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 1 35250457 35250457 C T exonic GJB3 NA nonsynonymous SNV GJB3:NM_001005752:exon2:c.C94T:p.R32W,GJB3:NM_024009:exon2:c.C94T:p.R32W exonic ENSG00000188910 NA nonsynonymous SNV ENSG00000188910:ENST00000373362:exon2:c.C94T:p.R32W,ENSG00000188910:ENST00000373366:exon2:c.C94T:p.R32W Score=480;Name=lod=119 NA 1p34.3 Score=937;Name=V$NRF2_01 NA Name=6 NA rs1805063 0.01 0.01 0.013 0.0129792 0.0378 NA 0.0202 0.0008 0.0123 0.03 NA 0.02 NA 0.0242 0.031 0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.955 H -6.43 D 0.469 D 0.981 D 0.367 2.89 15.63 5.85 2.771 1.086 19.788 2.890415 2.890415 0 0.030698 0.008171 NA 0.014 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039325.1;CLNDSDB=.;CLNDSDBID=. 23.2406354 2 18 61654247 61654247 G T exonic SERPINB8 NA nonsynonymous SNV SERPINB8:NM_001276490:exon6:c.G314T:p.G105V,SERPINB8:NM_002640:exon7:c.G860T:p.G287V,SERPINB8:NM_198833:exon7:c.G860T:p.G287V exonic ENSG00000166401 NA nonsynonymous SNV ENSG00000166401:ENST00000542677:exon6:c.G314T:p.G105V,ENSG00000166401:ENST00000353706:exon7:c.G860T:p.G287V,ENSG00000166401:ENST00000397985:exon7:c.G860T:p.G287V Score=374;Name=lod=44 NA 18q22.1 NA Name=NRSF Name=5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 1.0 D 0.999 D 0.000 D 1.000 D 4.535 H 0.86 T 1.084 D 0.940 D 0.946 4.747 26.5 5.65 2.941 9.555 18.891 4.746886 4.746886 0 NA NA NA NA NA 22.3333334 3 12 54422504 54422504 C T exonic HOXC6 NA nonsynonymous SNV HOXC6:NM_004503:exon1:c.C199T:p.R67W exonic ENSG00000197757 NA nonsynonymous SNV ENSG00000197757:ENST00000243108:exon1:c.C199T:p.R67W Score=884;Name=lod=5239 NA 12q13.13 Score=972;Name=V$AP2GAMMA_01 Name=ZNF263,SUZ12 Name=8 NA rs144307645 0.0046 0.0046 0.003 0.00339457 0.0109 NA 0.0014 NA 0.0051 0.01 NA NA NA 0.0117 0.015 0.19 T 0.997 D 0.885 P 0.000 D 1.000 D 2.98 M -3.11 D 0.545 D 0.779 D 0.465 3.689 18.74 5.54 2.884 5.671 18.419 3.68911 3.68911 0 0.015465 0.004085 NA 0.007 NA 21.7952684 4 1 155264120 155264120 C G exonic PKLR NA nonsynonymous SNV PKLR:NM_000298:exon7:c.G1022C:p.G341A,PKLR:NM_181871:exon7:c.G929C:p.G310A exonic ENSG00000143627 NA nonsynonymous SNV ENSG00000143627:ENST00000342741:exon7:c.G1022C:p.G341A,ENSG00000143627:ENST00000392414:exon7:c.G929C:p.G310A Score=487;Name=lod=127 NA 1q22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02 D 1.0 D 0.998 D 0.000 D 1.000 D 3.015 M -7.15 D 0.962 D 0.993 D 0.97 4.83 27.4 4.94 2.723 7.562 16.046 4.829821 4.829821 0.02 NA NA NA NA NA 21.3333334 4 4 187205402 187205402 A G exonic F11 NA nonsynonymous SNV F11:NM_000128:exon11:c.A1292G:p.H431R exonic ENSG00000088926 NA nonsynonymous SNV ENSG00000088926:ENST00000264692:exon11:c.A1136G:p.H379R,ENSG00000088926:ENST00000403665:exon11:c.A1292G:p.H431R Score=410;Name=lod=62 NA 4q35.2 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 0.971 D 0.000 D 1.000 D 3.7 H -3.77 D 1.090 D 0.942 D 0.919 2.592 14.63 4.97 2.066 8.306 13.371 2.592061 2.592061 0 NA NA NA NA NA 21.3333334 4 9 131696121 131696121 G A exonic PHYHD1 NA nonsynonymous SNV PHYHD1:NM_001100877:exon3:c.G253A:p.V85I,PHYHD1:NM_001100876:exon5:c.G253A:p.V85I,PHYHD1:NM_174933:exon5:c.G253A:p.V85I exonic ENSG00000175287 NA nonsynonymous SNV ENSG00000175287:ENST00000421063:exon3:c.G253A:p.V85I,ENSG00000175287:ENST00000426694:exon4:c.G253A:p.V85I,ENSG00000175287:ENST00000308941:exon5:c.G253A:p.V85I,ENSG00000175287:ENST00000353176:exon5:c.G253A:p.V85I,ENSG00000175287:ENST00000372592:exon5:c.G253A:p.V85I,ENSG00000175287:ENST00000412476:exon6:c.G253A:p.V85I Score=358;Name=lod=38 NA 9q34.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002471 NA 0.01 D 0.999 D 0.956 D 0.000 D 1.000 D 2.645 M -2.67 D 0.890 D 0.850 D 0.452 5.099 31 5.2 2.423 6.774 17.336 5.099453 5.099453 0.03 NA NA NA NA NA 21.3333087 5 5 150947891 150947891 C G exonic FAT2 NA nonsynonymous SNV FAT2:NM_001447:exon1:c.G602C:p.G201A exonic ENSG00000086570 NA nonsynonymous SNV ENSG00000086570:ENST00000261800:exon1:c.G602C:p.G201A Score=309;Name=lod=24 NA 5q33.1 Score=961;Name=V$ZIC1_01 NA NA NA rs11739693 0.0018 0.0018 NA 0.00219649 0.007 NA NA NA 0.0041 0.01 NA NA NA 0.0051 0.01 0.02 D 1.0 D 1.0 D 0.000 D 1.000 D 3.835 H -2.84 D 0.880 D 0.873 D 0.896 4.235 22 5.51 2.595 7.755 19.416 4.235011 4.235011 0 0.003372 0.000454 NA NA NA 21.3178614 6 13 20797025 20797025 A T exonic GJB6 NA nonsynonymous SNV GJB6:NM_001110221:exon3:c.T595A:p.S199T,GJB6:NM_006783:exon3:c.T595A:p.S199T,GJB6:NM_001110220:exon4:c.T595A:p.S199T,GJB6:NM_001110219:exon5:c.T595A:p.S199T exonic ENSG00000121742 NA nonsynonymous SNV ENSG00000121742:ENST00000241124:exon3:c.T595A:p.S199T,ENSG00000121742:ENST00000400065:exon3:c.T595A:p.S199T,ENSG00000121742:ENST00000400066:exon4:c.T595A:p.S199T,ENSG00000121742:ENST00000356192:exon5:c.T595A:p.S199T Score=289;Name=lod=20 NA 13q12.11 NA NA NA NA rs111033338 0.0027 0.0027 NA 0.00179712 0.008 NA 0.0014 NA NA 0.01 NA NA NA 0.0047 0.01 0.02 D 1.0 D 0.998 D 0.000 D 1.000 D 2.305 M -3.92 D 0.869 D 0.886 D 0.774 2.575 14.57 5.61 2.120 6.249 15.792 2.57468 2.57468 0 0.006395 0.000227 NA NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038709.1;CLNDSDB=.;CLNDSDBID=. 21.3142384 6 12 53586536 53586536 C T exonic ITGB7 NA nonsynonymous SNV ITGB7:NM_000889:exon13:c.G1885A:p.G629S exonic ENSG00000139626 NA nonsynonymous SNV ENSG00000139626:ENST00000267082:exon13:c.G1885A:p.G629S,ENSG00000139626:ENST00000422257:exon13:c.G1885A:p.G629S Score=336;Name=lod=31 NA 12q13.13 NA Name=Pol2,Pol2-4H8 Name=3 NA rs61754162 0.01 0.01 0.004 0.00878594 0.0089 NA 0.0245 0.0015 0.0164 0.01 NA 0.04 0.0041 0.0082 0.04 0.18 T 1.0 D 0.98 D 0.001 D 1.000 D 2.205 M -3.52 D 0.317 D 0.679 D 0.61 3.16 16.57 5.13 2.579 1.984 17.828 3.160414 3.160414 0.03 0.002907 0.000681 ID=COSM191134;OCCURENCE=1(large_intestine) 0.007 NA 21.3133264 7 11 134128923 134128923 C G exonic ACAD8 NA nonsynonymous SNV ACAD8:NM_014384:exon5:c.C512G:p.S171C exonic ENSG00000151498 NA nonsynonymous SNV ENSG00000151498:ENST00000374752:exon2:c.C131G:p.S44C,ENSG00000151498:ENST00000537423:exon4:c.C281G:p.S94C,ENSG00000151498:ENST00000543332:exon4:c.C218G:p.S73C,ENSG00000151498:ENST00000281182:exon5:c.C512G:p.S171C Score=399;Name=lod=56 NA 11q25 NA NA NA NA rs113488591 0.01 0.01 0.004 0.00678914 0.0199 NA 0.0144 0.0023 0.001 0.02 NA 0.01 NA 0.0143 0.022 0.01 D 1.0 D 0.981 D 0.000 D 1.000 D 3.295 M -5.46 D 0.685 D 0.959 D 0.603 4.454 23.8 4.82 1.421 7.385 14.765 4.453578 4.453578 0 0.022108 0.008632 NA 0.007 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000081621.1;CLNDSDB=.;CLNDSDBID=. 21.2770254 8 19 18897440 18897440 T C exonic COMP NA nonsynonymous SNV COMP:NM_000095:exon11:c.A1156G:p.N386D exonic ENSG00000105664 NA nonsynonymous SNV ENSG00000105664:ENST00000425807:exon10:c.A997G:p.N333D,ENSG00000105664:ENST00000542601:exon10:c.A1057G:p.N353D,ENSG00000105664:ENST00000222271:exon11:c.A1156G:p.N386D Score=399;Name=lod=56 NA 19p13.11 NA NA Name=9 NA rs61739916 0.02 0.02 0.014 0.0209665 0.0487 NA 0.0259 NA 0.0389 0.05 NA 0.02 NA 0.0338 0.05 0.01 D 1.0 D 1.0 D 0.000 U 1.000 D 3.9 H -5.85 D 0.182 D 0.929 D 0.228 3.679 18.69 3.35 1.409 7.702 10.717 3.678556 3.678556 0.01 0.047326 0.013618 NA 0.08 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome|Multiple_epiphyseal_dysplasia_1;CLNREVSTAT=single|single;CLNACC=RCV000033879.2|RCV000055747.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|GeneReviews:MedGen:OMIM;CLNDSDBID=NBK1487:C0410538:177170:ORPHA750:22567005|NBK1123:C1838280:132400 21.2035074 9 1 156848918 156848918 C T exonic NTRK1 NA nonsynonymous SNV NTRK1:NM_001012331:exon14:c.C1792T:p.H598Y,NTRK1:NM_001007792:exon15:c.C1702T:p.H568Y,NTRK1:NM_002529:exon15:c.C1810T:p.H604Y exonic ENSG00000198400 NA nonsynonymous SNV ENSG00000198400:ENST00000358660:exon14:c.C1801T:p.H601Y,ENSG00000198400:ENST00000368196:exon14:c.C1792T:p.H598Y,ENSG00000198400:ENST00000392302:exon15:c.C1702T:p.H568Y,ENSG00000198400:ENST00000524377:exon15:c.C1810T:p.H604Y Score=505;Name=lod=150 NA 1q23.1 Score=813;Name=V$ER_Q6 NA NA NA rs6336 0.02 0.02 0.021 0.024361 0.0408 NA 0.0288 0.0038 0.0573 0.04 NA 0.03 NA 0.0425 0.06 0 D 0.999 D 0.981 D 0.000 D 1.000 A 0.985 L -1.68 D 0.178 D 0.529 D 0.745 4.323 22.7 4.37 2.432 7.568 15.985 4.323291 4.323291 0 0.060465 0.011802 NA 0.014 CLINSIG=pathogenic|pathogenic|non-pathogenic;CLNDBN=Familial_medullary_thyroid_carcinoma|Hereditary_insensitivity_to_pain_with_anhidrosis|Hereditary_insensitivity_to_pain_with_anhidrosis;CLNREVSTAT=single|single|single;CLNACC=RCV000013100.21|RCV000030667.21|RCV000030674.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1257:C1833921:155240:ORPHA653|NBK1769:C0020074:256800:ORPHA642:62985007|NBK1769:C0020074:256800:ORPHA642:62985007 21.1895684 10 9 2718712 2718712 C A exonic KCNV2 NA nonsynonymous SNV KCNV2:NM_133497:exon1:c.C973A:p.P325T exonic ENSG00000168263 NA nonsynonymous SNV ENSG00000168263:ENST00000382082:exon1:c.C973A:p.P325T Score=304;Name=lod=23 NA 9p24.2 NA NA Name=4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 0.966 D 0.796 P 0.000 D 1.000 D 1.84 L -4.44 D 1.053 D 0.919 D 0.939 3.462 17.73 5.22 2.434 6.081 18.807 3.462296 3.462296 0.07 NA NA NA NA NA 20.8333334 11 2 44513202 44513202 T C exonic SLC3A1 NA nonsynonymous SNV SLC3A1:NM_000341:exon4:c.T797C:p.F266S exonic ENSG00000138079 NA nonsynonymous SNV ENSG00000138079:ENST00000427285:exon2:c.T131C:p.F44S,ENSG00000138079:ENST00000260649:exon4:c.T797C:p.F266S,ENSG00000138079:ENST00000409229:exon4:c.T797C:p.F266S,ENSG00000138079:ENST00000409387:exon4:c.T797C:p.F266S,ENSG00000138079:ENST00000409741:exon4:c.T797C:p.F266S,ENSG00000138079:ENST00000410056:exon4:c.T797C:p.F266S Score=547;Name=lod=223 NA 2p21 Score=856;Name=V$MEIS1AHOXA9_01 NA NA NA rs141587158 0.0014 0.0014 0.002 0.00139776 0.004 NA 0.0029 NA 0.001 0.0026 NA 0.0028 NA 0.0029 0.0047 0.01 D 0.988 D 0.776 P 0.000 D 1.000 D 2.345 M -4.76 D 1.068 D 0.969 D 0.821 3.455 17.7 3.68 1.865 1.998 10.682 3.454847 3.454847 0 0.004651 0.000454 NA NA NA 20.8217824 12 17 59534904 59534904 G C exonic TBX4 NA nonsynonymous SNV TBX4:NM_018488:exon2:c.G193C:p.E65Q exonic ENSG00000121075 NA nonsynonymous SNV ENSG00000121075:ENST00000240335:exon2:c.G193C:p.E65Q,ENSG00000121075:ENST00000393853:exon3:c.G193C:p.E65Q Score=622;Name=lod=450 NA 17q23.2 NA Name=SUZ12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA . . 0.996 D 0.924 D 0.000 D 1.000 D 0 N -2.15 D 0.102 D 0.573 D 0.521 5.393 34 5.63 2.654 9.238 18.262 5.392607 5.392607 0.01 NA NA NA NA NA 20.3333334 12 8 17722223 17722223 C T exonic FGL1 NA nonsynonymous SNV FGL1:NM_004467:exon8:c.G817A:p.G273S,FGL1:NM_147203:exon8:c.G817A:p.G273S,FGL1:NM_201552:exon9:c.G817A:p.G273S,FGL1:NM_201553:exon9:c.G817A:p.G273S exonic ENSG00000104760 NA nonsynonymous SNV ENSG00000104760:ENST00000522444:exon7:c.G817A:p.G273S,ENSG00000104760:ENST00000381840:exon8:c.G817A:p.G273S,ENSG00000104760:ENST00000427924:exon8:c.G817A:p.G273S,ENSG00000104760:ENST00000518650:exon8:c.G817A:p.G273S,ENSG00000104760:ENST00000381841:exon9:c.G817A:p.G273S,ENSG00000104760:ENST00000398054:exon9:c.G817A:p.G273S,ENSG00000104760:ENST00000398056:exon10:c.G817A:p.G273S Score=304;Name=lod=23 NA 8p22 NA Name=CTCF_(SC-5916),Znf143_(16618-1-AP),RFX5_(N-494),CTCF_(C-20),USF-1,CTCF,SMC3_(ab9263),Rad21 Name=113 NA rs368911782 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003342 0.0001 0.02 D 1.0 D 1.0 D 0.000 D 1.000 D 1.775 L -1.29 T 0.317 D 0.651 D 0.818 4.218 21.9 5.58 2.793 7.458 19.966 4.217879 4.217879 0 0.000116 0 NA NA NA 20.333184 12 15 80855492 80855492 T A exonic ARNT2 NA nonsynonymous SNV ARNT2:NM_014862:exon12:c.T1228A:p.W410R exonic ENSG00000172379 NA nonsynonymous SNV ENSG00000172379:ENST00000303329:exon12:c.T1228A:p.W410R,ENSG00000172379:ENST00000527771:exon12:c.T1195A:p.W399R,ENSG00000172379:ENST00000533983:exon13:c.T1195A:p.W399R Score=568;Name=lod=272 NA 15q25.1 Score=917;Name=V$P300_01 Name=ZNF263 NA Score=68;Name=838929_0_+_68 rs150964641 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0002 0 D 0.997 D 0.967 D 0.000 D 1.000 D 2.72 M 2.26 T -0.845 T 0.130 T 0.992 4.255 22.2 4.26 1.803 7.495 13.566 4.254555 4.254555 0 0.000233 0.000227 NA NA NA 20.3329004 12 16 72993159 72993159 A G exonic ZFHX3 NA nonsynonymous SNV ZFHX3:NM_006885:exon2:c.T886C:p.S296P exonic ENSG00000140836 NA nonsynonymous SNV ENSG00000140836:ENST00000268489:exon2:c.T886C:p.S296P Score=796;Name=lod=2291 NA 16q22.3 NA NA NA NA rs200949296 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0003 0 D 0.999 D 0.993 D 0.001 D 1.000 D 2.285 M -2.28 D 0.688 D 0.765 D 0.902 2.093 12.95 4.51 1.814 8.851 14.127 2.092882 2.092882 NA 0.000349 0 NA NA NA 20.3328844 12 3 125877290 125877290 G A exonic ALDH1L1 NA nonsynonymous SNV ALDH1L1:NM_001270364:exon3:c.C350T:p.P117L,ALDH1L1:NM_001270365:exon3:c.C320T:p.P107L,ALDH1L1:NM_012190:exon3:c.C320T:p.P107L exonic ENSG00000144908 NA nonsynonymous SNV ENSG00000144908:ENST00000273450:exon3:c.C350T:p.P117L,ENSG00000144908:ENST00000393431:exon3:c.C320T:p.P107L,ENSG00000144908:ENST00000393434:exon3:c.C320T:p.P107L,ENSG00000144908:ENST00000452905:exon3:c.C320T:p.P107L,ENSG00000144908:ENST00000460368:exon3:c.C320T:p.P107L,ENSG00000144908:ENST00000472186:exon3:c.C320T:p.P107L,ENSG00000144908:ENST00000488356:exon3:c.C320T:p.P107L,ENSG00000144908:ENST00000490367:exon3:c.C320T:p.P107L Score=549;Name=lod=228 NA 3q21.3 NA NA NA NA rs149080804 0.0009 0.0009 0.002 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0008 0.0026 0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.95 H -1.97 D 0.927 D 0.836 D 0.872 4.275 22.3 4.84 2.525 9.327 15.449 4.275434 4.275434 0 0.001047 0.000227 NA NA NA 20.3294864 13 12 57569339 57569339 G A exonic LRP1 NA nonsynonymous SNV LRP1:NM_002332:exon23:c.G3644A:p.G1215E exonic ENSG00000123384 NA nonsynonymous SNV ENSG00000123384:ENST00000243077:exon23:c.G3644A:p.G1215E Score=502;Name=lod=146 NA 12q13.3 Score=754;Name=V$HEN1_02 NA Name=133 NA rs35890409 0.0023 0.0023 0.003 0.00179712 0.005 NA 0.0029 0.0008 0.001 0.004 NA 0.0028 0.002 0.0035 0.0045 1 T 1.0 D 0.998 D 0.000 D 1.000 D 1.525 L -3.96 D 0.658 D 0.877 D 0.587 3.324 17.18 3.94 2.537 3.214 15.302 3.323544 3.323544 0.1 0.004535 0.001589 NA NA NA 20.3202984 13 1 11856378 11856378 G A exonic MTHFR NA nonsynonymous SNV MTHFR:NM_005957:exon5:c.C665T:p.A222V exonic ENSG00000177000 NA nonsynonymous SNV ENSG00000177000:ENST00000376592:exon4:c.C665T:p.A222V,ENSG00000177000:ENST00000376583:exon5:c.C788T:p.A263V,ENSG00000177000:ENST00000376590:exon5:c.C665T:p.A222V,ENSG00000177000:ENST00000376585:exon6:c.C788T:p.A263V Score=483;Name=lod=122 Name=Homocysteine levels 1p36.22 NA Name=eGFP-HDAC8,CEBPB,Pol2 Name=4 NA rs1801133 0.32 0.32 0.321 0.245407 0.3648 0.2956 0.4741 0.09 0.1186 0.35 0.37 0.49 0.11 0.3037 0.49 0.05 D 0.999 D 0.987 D 0.000 D 0.000 P 2.425 M -4.03 D -1.455 T 0.000 T 0.955 4.211 21.9 5.08 2.514 9.044 17.432 4.210837 4.210837 0 0.34686 0.121652 ID=COSM146404;OCCURENCE=1(stomach) 0.304 CLINSIG=non-pathogenic;CLNDBN=MTHFR_deficiency\x2c_thermolabile_type;CLNREVSTAT=single;CLNACC=RCV000003697.3;CLNDSDB=MedGen;CLNDSDBID=C1856059 20.3179734 13 2 27461368 27461368 T C exonic CAD NA nonsynonymous SNV CAD:NM_004341:exon31:c.T4930C:p.F1644L exonic ENSG00000084774 NA nonsynonymous SNV ENSG00000084774:ENST00000403525:exon30:c.T4741C:p.F1581L,ENSG00000084774:ENST00000264705:exon31:c.T4930C:p.F1644L Score=467;Name=lod=105 NA 2p23.3 Score=979;Name=V$MYOD_01 NA NA NA rs144692793 0.0018 0.0018 NA 0.00219649 0.005 NA 0.0072 NA 0.001 0.004 NA 0.0028 NA 0.0045 0.0078 0.03 D 0.997 D 0.989 D 0.000 D 1.000 D 0.675 N -4.69 D 0.879 D 0.873 D 0.637 4.9 28.2 4.94 1.860 7.632 13.448 4.900327 4.900327 0.02 0.007791 0.001362 NA NA NA 20.3160424 14 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 15 2 218758200 218758200 T G exonic TNS1 NA nonsynonymous SNV TNS1:NM_022648:exon8:c.A304C:p.N102H exonic ENSG00000079308 NA nonsynonymous SNV ENSG00000079308:ENST00000310858:exon5:c.A397C:p.N133H,ENSG00000079308:ENST00000413554:exon5:c.A508C:p.N170H,ENSG00000079308:ENST00000419504:exon7:c.A304C:p.N102H,ENSG00000079308:ENST00000430930:exon7:c.A304C:p.N102H,ENSG00000079308:ENST00000171887:exon8:c.A304C:p.N102H,ENSG00000079308:ENST00000413280:exon8:c.A304C:p.N102H,ENSG00000079308:ENST00000446903:exon10:c.A679C:p.N227H Score=414;Name=lod=64 NA 2q35 Score=848;Name=V$HAND1E47_01 NA NA NA rs61745748 0.01 0.01 0.006 0.0125799 0.0199 NA 0.0086 0.0023 0.0348 0.03 NA 0.01 0.01 0.0233 0.03 0.01 D 1.0 D 0.999 D 0.000 D 1.000 D 1.555 L -5.03 D 0.589 D 0.881 D 0.205 3.653 18.57 5.09 2.142 6.097 14.694 3.652558 3.652558 0 0.022093 0.004312 NA 0.007 NA 20.2680404 15 18 64172434 64172434 C G exonic CDH19 NA nonsynonymous SNV CDH19:NM_021153:exon12:c.G1934C:p.G645A exonic ENSG00000071991 NA nonsynonymous SNV ENSG00000071991:ENST00000262150:exon12:c.G1934C:p.G645A Score=482;Name=lod=121 NA 18q22.1 NA NA NA NA rs55874520 0.01 0.01 0.007 0.00698882 0.0258 NA 0.0101 0.0015 NA 0.03 NA 0.01 NA 0.0161 0.03 0 D 0.999 D 0.993 D 0.000 D 1.000 D 3.235 M -2.0 D 0.426 D 0.608 D 0.218 3.917 19.92 5.18 2.564 7.284 19.069 3.917129 3.917129 0 0.025465 0.005901 NA NA NA 20.2659684 16 16 2003016 2003016 G A exonic RPL3L NA nonsynonymous SNV RPL3L:NM_005061:exon3:c.C224T:p.A75V exonic ENSG00000140986 NA nonsynonymous SNV ENSG00000140986:ENST00000268661:exon3:c.C224T:p.A75V,ENSG00000140986:ENST00000565426:exon3:c.C68T:p.A23V Score=514;Name=lod=163 NA 16p13.3 Score=748;Name=V$PAX4_04 Name=Egr-1,ZBTB7A_(SC-34508),CTCF,CTCF_(SC-5916) Name=3 NA rs140185678 0.01 0.01 0.01 0.00599042 0.0229 NA 0.0029 0.0015 0.0031 0.03 NA 0.0028 0.002 0.027 0.034 0.01 D 1.0 D 0.976 D 0.000 D 1.000 D 3.945 H 0.84 T -0.066 T 0.226 T 0.598 3.635 18.49 5.28 2.479 9.395 17.900 3.635449 3.635449 0.01 0.033488 0.005912 NA NA NA 20.2499454 17 1 11106666 11106666 T C exonic MASP2 NA nonsynonymous SNV MASP2:NM_006610:exon3:c.A359G:p.D120G,MASP2:NM_139208:exon3:c.A359G:p.D120G exonic ENSG00000009724 NA nonsynonymous SNV ENSG00000009724:ENST00000400897:exon3:c.A359G:p.D120G,ENSG00000009724:ENST00000400898:exon3:c.A359G:p.D120G Score=502;Name=lod=146 NA 1p36.22 Score=973;Name=V$EN1_01 NA Name=4 NA rs72550870 0.02 0.02 0.014 0.0119808 0.0388 NA 0.0231 0.0008 0.0041 0.04 NA 0.02 NA 0.0225 0.04 0 D 0.996 D 0.972 D 0.000 D 1.000 A 3.19 M 1.1 T -0.375 T 0.104 T 0.97 4.552 24.6 4.77 1.772 7.628 13.272 4.551799 4.551799 0 0.028837 0.005901 ID=COSM1320150;OCCURENCE=1(ovary) 0.014 CLINSIG=pathogenic;CLNDBN=MASP2_deficiency;CLNREVSTAT=single;CLNACC=RCV000005520.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3151085:613791 20.2431964 18 10 26434455 26434455 G T exonic MYO3A NA nonsynonymous SNV MYO3A:NM_017433:exon22:c.G2497T:p.A833S exonic ENSG00000095777 NA nonsynonymous SNV ENSG00000095777:ENST00000265944:exon22:c.G2497T:p.A833S Score=569;Name=lod=274 NA 10p12.1 Score=838;Name=V$OCT1_02 NA NA NA rs33947968 0.04 0.04 0.036 0.0327476 0.0964 0.001 0.049 0.0076 0.0225 0.09 NA 0.05 0.01 0.0645 0.093 0.01 D 1.0 D 0.998 D 0.000 D 1.000 D 3.675 H -3.08 D -0.177 T 0.342 T 0.376 5.203 33 5.72 2.703 9.869 19.88 5.203455 5.203455 0 0.093256 0.020427 NA 0.08 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039030.1;CLNDSDB=.;CLNDSDBID=. 20.0791774 19 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$YY1_02 NA NA NA rs73979896 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4643 0.11 0.02 D 0.984 D 0.435 B 0.000 D 1.000 D 2.34 M -3.76 D 0.890 D 0.851 D 0.905 4.568 24.8 5.32 2.496 7.680 18.998 4.568141 4.568141 0.04 NA NA NA 0.101 NA 19.8690334 20 17 1383868 1383868 C T exonic MYO1C NA nonsynonymous SNV MYO1C:NM_001080779:exon7:c.G859A:p.V287I,MYO1C:NM_001080950:exon7:c.G802A:p.V268I,MYO1C:NM_033375:exon7:c.G754A:p.V252I exonic ENSG00000197879 NA nonsynonymous SNV ENSG00000197879:ENST00000359786:exon7:c.G859A:p.V287I,ENSG00000197879:ENST00000361007:exon7:c.G754A:p.V252I,ENSG00000197879:ENST00000438665:exon7:c.G802A:p.V268I,ENSG00000197879:ENST00000545534:exon7:c.G787A:p.V263I,ENSG00000197879:ENST00000570984:exon7:c.G754A:p.V252I,ENSG00000197879:ENST00000575158:exon7:c.G754A:p.V252I Score=423;Name=lod=70 NA 17p13.3 NA NA NA NA rs117696188 0.0014 0.0014 0 0.000798722 0.003 NA 0.0014 NA NA 0.004 NA NA NA 0.0021 0.011 0.01 D 0.983 D 0.793 P 0.000 D 0.999 D 2.185 M -2.24 D 0.469 D 0.698 D 0.536 3.507 17.92 4.49 1.282 4.676 11.873 3.506553 3.506553 0.01 0.004419 0.001135 NA 0.007 NA 19.8238144 21 1 156347131 156347131 G A exonic RHBG NA nonsynonymous SNV RHBG:NM_020407:exon2:c.G227A:p.G76D,RHBG:NM_001256395:exon3:c.G20A:p.G7D,RHBG:NM_001256396:exon3:c.G137A:p.G46D exonic ENSG00000132677 NA stopgain ENSG00000132677:ENST00000446171:exon3:c.G300A:p.W100X Score=624;Name=lod=460 NA 1q22 Score=833;Name=V$HNF4_01_B NA NA NA rs2245623 0.28 0.28 0.278 0.270567 0.4563 0.1012 0.2781 0.1936 0.3528 0.46 0.1 0.3 0.19 0.374 0.46 0 D 1.0 D 1.0 D 0.000 D 0.000 P 3.555 H -1.51 D 0.705 D 0.739 D 0.81 5.389 34 4.86 2.512 9.395 16.719 5.389342 5.389342 0 0.447326 0.225374 NA 0.21 NA 19.3890407 22 1 231398511 231398511 A T exonic GNPAT NA nonsynonymous SNV GNPAT:NM_014236:exon4:c.A481T:p.S161C exonic ENSG00000116906 NA nonsynonymous SNV ENSG00000116906:ENST00000366646:exon3:c.A298T:p.S100C,ENSG00000116906:ENST00000436239:exon3:c.A298T:p.S100C,ENSG00000116906:ENST00000366647:exon4:c.A481T:p.S161C,ENSG00000116906:ENST00000416000:exon4:c.A451T:p.S151C Score=563;Name=lod=259 NA 1q42.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 T 1.0 D 0.996 D 0.000 D 1.000 D 0.485 N -3.21 D 0.279 D 0.749 D 0.888 4.501 24.2 5.65 2.163 9.339 15.884 4.500972 4.500972 0 NA NA NA NA NA 19.3333334 22 8 100994274 100994274 A G exonic RGS22 NA nonsynonymous SNV RGS22:NM_015668:exon22:c.T3251C:p.I1084T exonic ENSG00000132554 NA nonsynonymous SNV ENSG00000132554:ENST00000523287:exon20:c.T2708C:p.I903T,ENSG00000132554:ENST00000360863:exon22:c.T3251C:p.I1084T,ENSG00000132554:ENST00000523437:exon22:c.T3215C:p.I1072T Score=628;Name=lod=476 NA 8q22.2 Score=889;Name=V$LHX3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 0.999 D 0.996 D 0.000 D 0.985 D 2.045 M 1.55 T -0.731 T 0.185 T 0.987 4.106 21.2 5.18 1.936 8.701 15.018 4.106271 4.106271 0 NA NA NA NA NA 19.3333334 22 11 68566802 68566802 G A exonic CPT1A NA nonsynonymous SNV CPT1A:NM_001031847:exon6:c.C577T:p.L193F,CPT1A:NM_001876:exon6:c.C577T:p.L193F exonic ENSG00000110090 NA nonsynonymous SNV ENSG00000110090:ENST00000539743:exon5:c.C577T:p.L193F,ENSG00000110090:ENST00000540367:exon5:c.C577T:p.L193F,ENSG00000110090:ENST00000265641:exon6:c.C577T:p.L193F,ENSG00000110090:ENST00000376618:exon6:c.C577T:p.L193F Score=289;Name=lod=20 NA 11q13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14 T 0.915 P 0.622 P 0.000 D 1.000 D 2.425 M -2.82 D 0.636 D 0.771 D 0.764 4.527 24.4 4.66 2.143 9.356 17.551 4.527305 4.527305 0 NA NA NA NA NA 19.3333334 22 20 40045902 40045902 C T exonic CHD6 NA nonsynonymous SNV CHD6:NM_032221:exon32:c.G6215A:p.R2072Q exonic ENSG00000124177 NA nonsynonymous SNV ENSG00000124177:ENST00000373233:exon32:c.G6215A:p.R2072Q Score=284;Name=lod=19 NA 20q12 NA NA NA NA rs181643165 0 0 NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0004 0.011 0.34 T 0.999 D 0.978 D 0.000 D 1.000 D 2.095 M -2.06 D 0.303 D 0.725 D 0.504 3.186 16.66 5.44 2.702 5.431 19.623 3.185763 3.185763 0.28 0.000233 0 NA 0.007 NA 19.3327004 22 17 34862932 34862932 C T exonic MYO19 NA nonsynonymous SNV MYO19:NM_001163735:exon18:c.G1514A:p.R505H exonic ENSG00000141140 NA nonsynonymous SNV ENSG00000141140:ENST00000431794:exon17:c.G1514A:p.R505H,ENSG00000141140:ENST00000586908:exon17:c.G1514A:p.R505H Score=352;Name=lod=36 NA 17q12 Score=837;Name=V$HAND1E47_01 NA NA NA rs201468610 NA NA NA 0.000599042 NA NA 0.0043 NA NA NA NA NA NA 0.0003 0.0006 0 D 1.0 D 0.997 D . . 1.000 D 2.56 M -2.21 D 0.528 D 0.754 D 0.73 4.532 24.4 3.27 0.788 3.484 9.143 4.532307 4.532307 0 0.000558 0 NA NA NA 19.3324754 22 7 128494922 128494922 G A exonic FLNC NA nonsynonymous SNV FLNC:NM_001127487:exon41:c.G6992A:p.R2331H,FLNC:NM_001458:exon42:c.G7091A:p.R2364H exonic ENSG00000128591 NA nonsynonymous SNV ENSG00000128591:ENST00000346177:exon41:c.G6992A:p.R2331H,ENSG00000128591:ENST00000325888:exon42:c.G7091A:p.R2364H Score=540;Name=lod=209 NA 7q32.1 NA NA NA NA rs201672146 NA NA NA 0.000599042 0.002 NA NA 0.0008 NA NA NA NA NA 0.0019 0.0024 0.03 D 1.0 D 0.998 D 0.000 D 0.999 D 0.455 N -1.93 D 0.219 D 0.574 D 0.329 1.931 12.41 5.29 2.451 3.211 12.74 1.930544 1.930544 0.3 0.002384 0.001243 ID=COSM1085386;OCCURENCE=1(endometrium) NA NA 19.3270494 23 5 179321458 179321458 C T exonic TBC1D9B NA nonsynonymous SNV TBC1D9B:NM_015043:exon4:c.G505A:p.V169M,TBC1D9B:NM_198868:exon4:c.G505A:p.V169M exonic ENSG00000197226 NA nonsynonymous SNV ENSG00000197226:ENST00000355235:exon4:c.G505A:p.V169M,ENSG00000197226:ENST00000356834:exon4:c.G505A:p.V169M Score=632;Name=lod=493 NA 5q35.3 Score=807;Name=V$AHRARNT_02 NA NA NA rs141539662 0.0027 0.0027 0.002 0.00119808 0.006 NA NA NA NA 0.01 NA NA NA 0.0018 0.01 0.08 T 1.0 D 1.0 D 0.000 D 1.000 D 1.445 L -2.3 D 0.396 D 0.654 D 0.748 4.678 25.8 4.84 2.526 7.576 18.198 4.67834 4.67834 0 0.001163 0.000227 NA NA NA 19.3243704 23 7 72745738 72745738 C T exonic FKBP6 NA nonsynonymous SNV FKBP6:NM_001135211:exon5:c.C532T:p.R178C,FKBP6:NM_003602:exon5:c.C547T:p.R183C exonic ENSG00000077800 NA nonsynonymous SNV ENSG00000077800:ENST00000413573:exon4:c.C457T:p.R153C,ENSG00000077800:ENST00000252037:exon5:c.C547T:p.R183C,ENSG00000077800:ENST00000429879:exon5:c.C547T:p.R183C,ENSG00000077800:ENST00000431982:exon5:c.C532T:p.R178C Score=489;Name=lod=130 NA 7q11.23 Score=764;Name=V$E2F_01 NA NA NA rs147213094 0.0009 0.0009 0.002 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0032 0.0041 0 D 1.0 D 0.939 D 0.002 N 1.000 D 2.16 M -0.88 T 0.019 D 0.502 D 0.864 3.856 19.59 5.46 2.573 2.353 8.638 3.855933 3.855933 0 0.004148 0.000269 NA NA NA 19.3239854 23 19 11097098 11097098 C T exonic SMARCA4 NA nonsynonymous SNV SMARCA4:NM_001128845:exon3:c.C589T:p.P197S,SMARCA4:NM_001128846:exon3:c.C589T:p.P197S,SMARCA4:NM_001128847:exon3:c.C589T:p.P197S,SMARCA4:NM_001128848:exon3:c.C589T:p.P197S,SMARCA4:NM_001128849:exon4:c.C589T:p.P197S,SMARCA4:NM_003072:exon4:c.C589T:p.P197S,SMARCA4:NM_001128844:exon5:c.C589T:p.P197S exonic ENSG00000127616 NA nonsynonymous SNV ENSG00000127616:ENST00000413806:exon3:c.C589T:p.P197S,ENSG00000127616:ENST00000450717:exon3:c.C589T:p.P197S,ENSG00000127616:ENST00000344626:exon4:c.C589T:p.P197S,ENSG00000127616:ENST00000358026:exon4:c.C589T:p.P197S,ENSG00000127616:ENST00000590574:exon4:c.C589T:p.P197S,ENSG00000127616:ENST00000429416:exon5:c.C589T:p.P197S,ENSG00000127616:ENST00000444061:exon5:c.C589T:p.P197S,ENSG00000127616:ENST00000541122:exon5:c.C589T:p.P197S,ENSG00000127616:ENST00000589677:exon5:c.C589T:p.P197S Score=598;Name=lod=360 NA 19p13.2 NA Name=CTCF NA NA rs200664441 NA NA NA 0.00139776 0.003 NA 0.0014 NA 0.0031 NA NA NA NA 0.0057 0.0013 0.36 T 0.997 D 0.992 D 0.000 D 1.000 D 1.18 L -2.35 D 0.313 D 0.708 D 0.568 4.095 21.1 4.32 2.244 7.510 15.759 4.095485 4.095485 0.3 0.001286 0.000228 ID=COSM30574;OCCURENCE=1(breast) NA NA 19.3233474 23 12 96371731 96371731 C T exonic HAL NA nonsynonymous SNV HAL:NM_001258333:exon17:c.G1021A:p.V341M,HAL:NM_001258334:exon18:c.G1645A:p.V549M,HAL:NM_002108:exon18:c.G1645A:p.V549M exonic ENSG00000084110 NA nonsynonymous SNV ENSG00000084110:ENST00000541929:exon17:c.G1021A:p.V341M,ENSG00000084110:ENST00000261208:exon18:c.G1645A:p.V549M,ENSG00000084110:ENST00000538703:exon18:c.G1645A:p.V549M Score=544;Name=lod=216 NA 12q23.1 Score=971;Name=V$USF_C NA NA NA rs61937878 0.0018 0.0018 0.001 0.000998403 0.004 NA 0.0014 NA NA 0.01 NA NA NA 0.0018 0.01 0 D 1.0 D 0.998 D 0.000 D 1.000 D 3.045 M -1.17 T 0.304 D 0.584 D 0.699 2.804 15.34 3.93 0.793 4.695 12.309 2.804313 2.804313 0 0.005 0.001135 NA NA NA 19.3225334 23 5 140773812 140773812 G A exonic PCDHGA8 NA nonsynonymous SNV PCDHGA8:NM_014004:exon1:c.G1432A:p.D478N,PCDHGA8:NM_032088:exon1:c.G1432A:p.D478N exonic ENSG00000253767 NA nonsynonymous SNV ENSG00000253767:ENST00000398604:exon1:c.G1432A:p.D478N Score=333;Name=lod=30 NA 5q31.3 Score=807;Name=V$COMP1_01 NA NA NA rs144796076 0.0032 0.0032 0.005 0.00199681 0.007 NA 0.0029 NA 0.001 0.01 NA 0.01 NA 0.0021 0.011 0 D 1.0 D 1.0 D 0.006 U 1.000 D 5.12 H -0.85 T 0.879 D 0.745 D 0.309 3.173 16.62 5.06 2.366 9.595 18.078 3.173397 3.173397 0 0.003073 0.000951 NA 0.007 NA 19.3211604 24 17 10415269 10415269 A G exonic MYH1 NA nonsynonymous SNV MYH1:NM_005963:exon14:c.T1303C:p.Y435H exonic ENSG00000109061 NA nonsynonymous SNV ENSG00000109061:ENST00000226207:exon14:c.T1303C:p.Y435H Score=678;Name=lod=762 NA 17p13.1 NA NA NA NA rs117790102 0.01 0.01 0.007 0.00359425 0.0139 NA 0.0043 NA 0.001 0.01 NA 0.01 NA 0.0127 0.015 0 D 0.998 D 0.992 D 0.032 U 1.000 D 4.055 H -2.44 D 0.884 D 0.852 D 0.34 4.256 22.2 5.73 2.308 9.184 16.312 4.256498 4.256498 0 0.014884 0.001362 NA NA NA 19.2918494 25 9 101797330 101797330 C T exonic COL15A1 NA nonsynonymous SNV COL15A1:NM_001855:exon18:c.C2114T:p.P705L exonic ENSG00000204291 NA nonsynonymous SNV ENSG00000204291:ENST00000375001:exon18:c.C2114T:p.P705L Score=428;Name=lod=73 NA 9q22.33 Score=797;Name=V$OLF1_01 NA NA NA rs41308900 0.01 0.01 0.008 0.00678914 0.0169 NA 0.0173 NA 0.0051 0.02 NA 0.01 NA 0.0159 0.021 0.12 T 0.999 D 0.929 D 0.005 N 0.999 D 2.86 M -4.51 D 0.709 D 0.905 D 0.23 2.455 14.17 4.78 1.368 2.526 12.010 2.454734 2.454734 0.05 0.021047 0.003404 NA 0.051 NA 19.2794864 25 15 65677446 65677446 C A exonic IGDCC4 NA nonsynonymous SNV IGDCC4:NM_020962:exon19:c.G3188T:p.W1063L exonic ENSG00000103742 NA nonsynonymous SNV ENSG00000103742:ENST00000352385:exon19:c.G3188T:p.W1063L Score=383;Name=lod=48 NA 15q22.31 Score=815;Name=V$ARP1_01 Name=AP-2gamma,ZNF263,SMC3_(ab9263),YY1_(C-20),Rad21,TAF1,HMGN3,Pol2-4H8,CTCF_(SC-5916),ELF1_(SC-631),Pol2,TAF7_(SQ-8),CTCF Name=84 NA rs116928937 0.01 0.01 0.008 0.0131789 0.0209 0.005 0.0187 0.0008 0.0266 0.03 0.01 0.01 NA 0.0212 0.03 0.01 D 1.0 D 0.996 D 0.000 D 0.997 D 1.735 L -0.57 T -0.296 T 0.246 T 0.353 3.5 17.89 5.23 2.444 4.319 15.937 3.500252 3.500252 0 0.012286 0.001578 NA NA NA 19.2789474 26 16 1997004 1997004 C T exonic RPL3L NA nonsynonymous SNV RPL3L:NM_005061:exon6:c.G784A:p.V262M exonic ENSG00000140986 NA nonsynonymous SNV ENSG00000140986:ENST00000268661:exon6:c.G784A:p.V262M Score=420;Name=lod=68 NA 16p13.3 Score=819;Name=V$MYOGNF1_01 NA NA NA rs113956264 0.02 0.02 0.016 0.0211661 0.0288 0.0248 0.0231 0.003 0.0327 0.03 0.02 0.02 0.002 0.0255 0.033 0 D 1.0 D 0.986 D 0.000 D 1.000 D 3.455 M -0.12 T 0.028 D 0.301 T 0.612 3.391 17.44 4.92 2.423 7.729 17.476 3.390711 3.390711 0 0.027332 0.004775 NA 0.065 NA 19.2517014 26 9 108363426 108363426 C T exonic FKTN NA nonsynonymous SNV FKTN:NM_006731:exon4:c.C166T:p.R56C,FKTN:NM_001079802:exon5:c.C166T:p.R56C,FKTN:NM_001198963:exon5:c.C166T:p.R56C exonic ENSG00000106692 NA nonsynonymous SNV ENSG00000106692:ENST00000357998:exon3:c.C166T:p.R56C,ENSG00000106692:ENST00000223528:exon4:c.C166T:p.R56C,ENSG00000106692:ENST00000374705:exon4:c.C97T:p.R33C,ENSG00000106692:ENST00000540160:exon4:c.C166T:p.R56C,ENSG00000106692:ENST00000448551:exon5:c.C166T:p.R56C,ENSG00000106692:ENST00000602661:exon5:c.C166T:p.R56C Score=589;Name=lod=329 NA 9q31.2 NA NA NA NA rs41277797 0.02 0.02 0.011 0.0103834 0.0318 NA 0.0245 0.0015 0.001 0.03 NA 0.03 NA 0.0235 0.03 . . 1.0 D 0.917 D 0.000 D 1.000 D 1.7 L -1.64 D 0.176 D 0.549 D 0.502 3.836 19.48 5.65 2.668 2.471 13.651 3.835546 3.835546 0 0.028282 0.005684 NA 0.007 CLINSIG=other|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000079431.3|RCV000125123.1;CLNDSDB=.|.;CLNDSDBID=.|. 19.2497514 27 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 28 10 54531242 54531242 G A exonic MBL2 NA nonsynonymous SNV MBL2:NM_000242:exon1:c.C154T:p.R52C exonic ENSG00000165471 NA nonsynonymous SNV ENSG00000165471:ENST00000373968:exon1:c.C154T:p.R52C Score=399;Name=lod=56 NA 10q21.1 NA NA NA NA rs5030737 0.03 0.03 0.026 0.0271565 0.0596 0.001 0.0331 0.0015 0.0511 0.07 NA 0.03 0.002 0.0569 0.07 0.01 D 1.0 D 0.977 D 0.033 N 0.993 A 3.335 M -3.2 D 0.062 D 0.432 T 0.403 3.353 17.29 3.07 1.263 1.121 9.112 3.352757 3.352757 0 0.069302 0.011802 NA 0.022 CLINSIG=pathogenic;CLNDBN=Mannose-binding_protein_deficiency;CLNREVSTAT=single;CLNACC=RCV000015426.24;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1835140:614372 19.1475314 29 7 20687604 20687604 A G exonic ABCB5 NA nonsynonymous SNV ABCB5:NM_001163941:exon11:c.A1109G:p.D370G exonic ENSG00000004846 NA nonsynonymous SNV ENSG00000004846:ENST00000404938:exon11:c.A1109G:p.D370G Score=503;Name=lod=148 NA 7p21.1 Score=856;Name=V$CDP_02 Name=CEBPB NA NA rs61732039 0.06 0.06 0.059 0.0451278 0.1441 NA 0.0591 0.0083 0.0297 0.14 NA 0.06 0.01 0.1118 0.14 0.01 D 1.0 D 0.998 D . . 1.000 D 2.64 M -2.4 D -0.823 T 0.032 T 0.091 3.553 18.12 4.15 1.108 6.314 10.393 3.553314 3.553314 0 0.134395 0.02838 NA 0.014 NA 18.9430384 30 12 41946539 41946539 G A exonic PDZRN4 NA nonsynonymous SNV PDZRN4:NM_013377:exon4:c.G511A:p.G171S,PDZRN4:NM_001164595:exon6:c.G1285A:p.G429S exonic ENSG00000165966 NA nonsynonymous SNV ENSG00000165966:ENST00000539469:exon4:c.G511A:p.G171S,ENSG00000165966:ENST00000298919:exon6:c.G505A:p.G169S,ENSG00000165966:ENST00000402685:exon6:c.G1285A:p.G429S Score=503;Name=lod=147 NA 12q12 Score=887;Name=V$TATA_01 Name=c-Fos Name=38 NA rs285584 0.16 0.16 0.161 0.166733 0.159 0.1081 0.1196 0.2557 0.1483 0.16 0.11 0.12 0.23 0.165 0.24 0 D 0.999 D 0.955 D 0.000 D 0.000 P 1.93 M 0.44 T -1.192 T 0.000 T 0.69 5.461 35 5.04 2.715 6.547 19.268 5.461185 5.461185 0.01 0.161279 0.239446 NA 0.246 NA 18.8480544 31 11 78433746 78433746 G A exonic TENM4 NA nonsynonymous SNV TENM4:NM_001098816:exon24:c.C3767T:p.P1256L exonic ENSG00000149256 NA nonsynonymous SNV ENSG00000149256:ENST00000278550:exon24:c.C3767T:p.P1256L Score=586;Name=lod=321 NA 11q14.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA . . 0.518 P 0.115 B 0.000 D 1.000 D 2.08 M -2.58 D 0.134 D 0.625 D 0.586 4.131 21.3 5.64 2.937 9.397 19.895 4.131477 4.131477 0.03 NA NA NA NA NA 18.8333334 31 17 61497577 61497577 G A exonic TANC2 NA nonsynonymous SNV TANC2:NM_025185:exon25:c.G4234A:p.E1412K exonic ENSG00000170921 NA nonsynonymous SNV ENSG00000170921:ENST00000424789:exon25:c.G4234A:p.E1412K,ENSG00000170921:ENST00000389520:exon26:c.G4264A:p.E1422K Score=604;Name=lod=381 NA 17q23.3 NA Name=ZBTB7A_(SC-34508) Name=3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA 0.03 D 0.992 D 0.905 P 0.000 D 1.000 D 0.345 N -0.44 T -0.430 T 0.283 T 0.779 4.742 26.5 4.39 1.217 9.476 15.073 4.741708 4.741708 0 NA NA NA NA NA 18.8333334 31 18 21119949 21119949 T A exonic NPC1 NA nonsynonymous SNV NPC1:NM_000271:exon18:c.A2621T:p.D874V exonic ENSG00000141458 NA nonsynonymous SNV ENSG00000141458:ENST00000412552:exon11:c.A1667T:p.D556V,ENSG00000141458:ENST00000269228:exon18:c.A2621T:p.D874V Score=363;Name=lod=40 NA 18q11.2 NA NA NA NA rs372030650 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003308 0.0001 0.02 D 0.431 B 0.482 P 0.000 D 1.000 D 3.055 M -3.36 D 0.919 D 0.873 D 0.923 2.862 15.53 5.67 2.281 6.140 16.201 2.861763 2.861763 0.01 0.000116 0 NA NA NA 18.8331843 31 16 24372717 24372717 G A exonic CACNG3 NA nonsynonymous SNV CACNG3:NM_006539:exon4:c.G481A:p.A161T exonic ENSG00000006116 NA nonsynonymous SNV ENSG00000006116:ENST00000005284:exon4:c.G481A:p.A161T Score=567;Name=lod=269 NA 16p12.1 NA NA NA NA rs140935639 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004188 0.0002 0.61 T 0.99 D 0.782 P 0.000 D 0.999 D 2.175 M -2.51 D 0.351 D 0.728 D 0.322 0.837 8.379 4.96 2.274 4.886 16.81 0.837053 NA 0.22 0.000233 0.000228 ID=COSM1563172;OCCURENCE=1(large_intestine) NA NA 18.8330585 31 3 33156020 33156020 C G exonic CRTAP NA nonsynonymous SNV CRTAP:NM_006371:exon1:c.C451G:p.L151V exonic ENSG00000170275 NA nonsynonymous SNV ENSG00000170275:ENST00000320954:exon1:c.C451G:p.L151V,ENSG00000170275:ENST00000449224:exon1:c.C451G:p.L151V Score=592;Name=lod=341 NA 3p22.3 NA Name=TCF4,c-Myc,IRF1,THAP1_(SC-98174),Pol2(b),AP-2gamma,TBP,CCNT2,AP-2alpha,ZBTB7A_(SC-34508),GTF2F1_(RAP-74),Pol2,E2F6_(H-50),TAF1,HMGN3,NFKB,Pol2-4H8,ELF1_(SC-631),HEY1,ETS1 Name=148 NA rs202118861 0.0027 0.0027 NA 0.000199681 0.001 NA NA NA NA 0.0013 0.01 NA 0.0041 0.0006 0.01 0 D 0.993 D 0.775 P 0.000 D 1.000 D 2.99 M 0.1 T -0.128 T 0.305 T 0.775 4.92 28.4 4.18 2.328 3.618 16.629 4.92035 4.92035 0 NA NA NA NA NA 18.8317334 32 3 54925426 54925426 C T exonic CACNA2D3 NA nonsynonymous SNV CACNA2D3:NM_018398:exon25:c.C2195T:p.T732M exonic ENSG00000157445 NA nonsynonymous SNV ENSG00000157445:ENST00000490478:exon24:c.C1913T:p.T638M,ENSG00000157445:ENST00000288197:exon25:c.C2195T:p.T732M,ENSG00000157445:ENST00000474759:exon25:c.C2195T:p.T732M,ENSG00000157445:ENST00000415676:exon26:c.C2195T:p.T732M Score=403;Name=lod=58 NA 3p14.3 Score=782;Name=V$AHRARNT_02 Name=BAF170 Name=27 NA rs112362995 0.01 0.01 0.003 0.00379393 0.0159 NA 0.0014 0.0015 NA 0.01 NA 0.0028 0.002 0.0076 0.011 0 D 0.998 D 0.899 P 0.000 D 1.000 D 1.61 L 1.58 T -0.957 T 0.114 T 0.397 4.674 25.8 5.54 2.604 7.487 17.659 4.674368 4.674368 0.01 0.011122 0.002132 NA NA NA 18.7987114 33 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=HDAC2_(SC-6296),HEY1 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 33 6 44198362 44198362 T C exonic SLC29A1 NA nonsynonymous SNV SLC29A1:NM_001078174:exon7:c.T647C:p.I216T,SLC29A1:NM_001078176:exon7:c.T647C:p.I216T,SLC29A1:NM_004955:exon7:c.T647C:p.I216T,SLC29A1:NM_001078175:exon8:c.T647C:p.I216T,SLC29A1:NM_001078177:exon8:c.T647C:p.I216T exonic ENSG00000112759 NA nonsynonymous SNV ENSG00000112759:ENST00000371708:exon6:c.T647C:p.I216T,ENSG00000112759:ENST00000371713:exon7:c.T647C:p.I216T,ENSG00000112759:ENST00000371755:exon7:c.T647C:p.I216T,ENSG00000112759:ENST00000393844:exon7:c.T647C:p.I216T,ENSG00000112759:ENST00000427851:exon7:c.T647C:p.I216T,ENSG00000112759:ENST00000313248:exon8:c.T884C:p.I295T,ENSG00000112759:ENST00000371724:exon8:c.T647C:p.I216T,ENSG00000112759:ENST00000371731:exon8:c.T647C:p.I216T,ENSG00000112759:ENST00000371740:exon8:c.T647C:p.I216T,ENSG00000112759:ENST00000393841:exon8:c.T647C:p.I216T Score=284;Name=lod=19 NA 6p21.1 NA NA NA NA rs45573936 0.01 0.01 0.007 0.00798722 0.0139 NA 0.0086 0.0038 0.0153 0.02 NA 0.0028 0.01 0.0192 0.03 0.13 T 0.988 D 0.828 P 0.000 D 0.999 D 2.15 M -1.56 D 0.137 D 0.566 D 0.137 3.031 16.11 5.52 2.091 4.516 14.23 3.030796 3.030796 0.15 0.029767 0.004085 NA NA NA 18.7704664 33 6 117083172 117083172 C T exonic FAM162B NA nonsynonymous SNV FAM162B:NM_001085480:exon3:c.G358A:p.A120T exonic ENSG00000183807 NA nonsynonymous SNV ENSG00000183807:ENST00000368557:exon3:c.G358A:p.A120T Score=569;Name=lod=273 NA 6q22.1 NA Name=TAL1_(SC-12984),SRF,GATA2_(CG2-96) Name=4 NA rs41306045 0.02 0.02 0.016 0.0213658 0.0239 0.006 0.013 0.0129 0.0521 0.03 0.0035 0.02 0.01 0.021 0.033 0.01 D 0.98 D 0.563 P 0.000 D 0.996 D 2.045 M 1.18 T -1.019 T 0.077 T 0.128 3.278 17.01 3.61 1.247 5.202 11.726 3.278155 3.278155 0.02 0.018905 0.014921 NA 0.022 NA 18.7695284 34 12 121622304 121622304 A C exonic P2RX7 NA nonsynonymous SNV P2RX7:NM_002562:exon13:c.A1487C:p.E496A exonic ENSG00000089041 NA nonsynonymous SNV ENSG00000089041:ENST00000541446:exon11:c.A620C:p.E207A,ENSG00000089041:ENST00000328963:exon12:c.A977C:p.E326A,ENSG00000089041:ENST00000546057:exon13:c.A1487C:p.E496A,ENSG00000089041:ENST00000535250:exon14:c.A1217C:p.E406A Score=428;Name=lod=73 Name=Chronic obstructive pulmonary disease-related biomarkers 12q24.31 Score=833;Name=V$OLF1_01 NA Name=11 NA rs3751143 0.19 0.19 0.18 0.207468 0.2087 0.2669 0.1916 0.0847 0.3221 0.2 0.26 0.21 0.09 0.1903 0.26 0 D 0.998 D 0.995 D 0.000 D 0.000 P 2.52 M 4.32 T -1.050 T 0.000 T 0.7 4.607 25.1 5.21 1.967 6.490 12.446 4.606826 4.606826 0.01 0.184884 0.089877 NA 0.159 NA 18.7494494 35 15 83781599 83781599 T G exonic TM6SF1 NA nonsynonymous SNV TM6SF1:NM_001144903:exon2:c.T143G:p.L48R,TM6SF1:NM_023003:exon2:c.T143G:p.L48R exonic ENSG00000136404 NA nonsynonymous SNV ENSG00000136404:ENST00000258909:exon2:c.T143G:p.L48R,ENSG00000136404:ENST00000322019:exon2:c.T143G:p.L48R,ENSG00000136404:ENST00000379384:exon2:c.T143G:p.L48R,ENSG00000136404:ENST00000379386:exon2:c.T143G:p.L48R,ENSG00000136404:ENST00000379390:exon2:c.T143G:p.L48R,ENSG00000136404:ENST00000565774:exon2:c.T143G:p.L48R Score=295;Name=lod=21 NA 15q25.2 Score=894;Name=V$NF1_Q6 Name=GATA-2,CTCF,c-Jun,c-Fos Name=84 NA rs79470022 0.03 0.03 NA 0.0231629 0.0616 NA 0.0418 0.0008 0.0245 0.05 NA 0.05 0.002 0.0456 0.05 0 D 0.989 D 0.804 P 0.008 N 1.000 D 1.955 M 0.46 T -0.828 T 0.061 T 0.841 4.646 25.5 5.6 2.127 6.096 14.762 4.64556 4.64556 0 NA NA NA NA NA 18.7261334 36 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$NMYC_01 Name=c-Myc,CTCF,CTCF_(SC-5916) Name=21 NA rs1800437 0.18 0.18 0.165 0.161142 0.2137 0.2073 0.1268 0.1233 0.135 0.21 0.22 0.14 0.13 0.2019 0.22 0.07 T 1.0 D 0.999 D 0.000 D 0.021 P 2.545 M 0.9 T -1.097 T 0.000 T 0.134 4.468 23.9 3.14 0.954 3.265 11.062 4.46782 4.46782 0.01 0.203488 0.113482 NA 0.167 NA 18.7142454 37 1 162367103 162367103 G T exonic SH2D1B NA nonsynonymous SNV SH2D1B:NM_053282:exon4:c.C366A:p.N122K exonic ENSG00000198574 NA nonsynonymous SNV ENSG00000198574:ENST00000359567:exon3:c.C201A:p.N67K,ENSG00000198574:ENST00000367929:exon4:c.C366A:p.N122K Score=278;Name=lod=18 NA 1q23.3 NA Name=CCNT2,ZBTB7A_(SC-34508),PU.1,TAL1_(SC-12984),HMGN3,eGFP-JunB,E2F6_(H-50),CTCF,GATA-2 NA NA rs34001279 0.1 0.1 0.084 0.113618 0.1193 0.1409 0.1744 0.0318 0.1472 0.11 0.14 0.12 0.03 0.1071 0.14 0 D 0.987 D 0.832 P . . 0.628 D 1.735 L -1.53 D 0.167 D 0.604 D 0.127 2.316 13.7 3.47 1.189 1.311 8.159 2.316269 2.316269 0.01 0.113605 0.039265 NA 0.051 NA 18.4933284 38 1 14109319 14109319 G A exonic PRDM2 NA nonsynonymous SNV PRDM2:NM_001007257:exon3:c.G4426A:p.D1476N,PRDM2:NM_012231:exon8:c.G5029A:p.D1677N,PRDM2:NM_015866:exon8:c.G5029A:p.D1677N exonic ENSG00000116731 NA nonsynonymous SNV ENSG00000116731:ENST00000413440:exon3:c.G4426A:p.D1476N,ENSG00000116731:ENST00000343137:exon4:c.G4426A:p.D1476N,ENSG00000116731:ENST00000235372:exon8:c.G5029A:p.D1677N,ENSG00000116731:ENST00000311066:exon8:c.G5029A:p.D1677N Score=509;Name=lod=156 NA 1p36.21 Score=875;Name=V$NKX22_01 NA Name=2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17 T 0.999 D 0.943 D 0.000 D 1.000 D 0 N 4.61 T -0.640 T 0.013 T 0.151 3.396 17.47 6.07 2.884 9.148 19.208 3.396467 3.396467 0.24 NA NA NA NA NA 18.3333334 38 11 78433753 78433753 T C exonic TENM4 NA nonsynonymous SNV TENM4:NM_001098816:exon24:c.A3760G:p.I1254V exonic ENSG00000149256 NA nonsynonymous SNV ENSG00000149256:ENST00000278550:exon24:c.A3760G:p.I1254V Score=586;Name=lod=321 NA 11q14.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA . . 0.913 P 0.891 P 0.000 D 1.000 D 0.935 L -2.66 D 0.430 D 0.727 D 0.57 4.662 25.7 5.64 2.367 7.659 16.024 4.662226 4.662226 0.07 NA NA NA NA NA 18.3333334 38 15 66735693 66735693 G T exonic MAP2K1 NA nonsynonymous SNV MAP2K1:NM_002755:exon4:c.G514T:p.A172S exonic ENSG00000169032 NA nonsynonymous SNV ENSG00000169032:ENST00000307102:exon4:c.G514T:p.A172S Score=620;Name=lod=441 NA 15q22.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25 T 0.688 P 0.491 P 0.000 D 1.000 D 0.825 L -3.14 D 0.290 D 0.699 D 0.725 5.256 33 6.03 2.861 9.751 20.557 5.255805 5.255805 0.07 NA NA NA NA NA 18.3333334 38 3 138023785 138023785 C T exonic NME9 NA nonsynonymous SNV NME9:NM_178130:exon10:c.G538A:p.V180M exonic ENSG00000181322 NA nonsynonymous SNV ENSG00000181322:ENST00000317876:exon7:c.G538A:p.V180M,ENSG00000181322:ENST00000341790:exon7:c.G532A:p.V178M,ENSG00000181322:ENST00000484930:exon8:c.G532A:p.V178M,ENSG00000181322:ENST00000536478:exon8:c.G538A:p.V180M,ENSG00000181322:ENST00000333911:exon9:c.G721A:p.V241M,ENSG00000181322:ENST00000383180:exon10:c.G538A:p.V180M Score=295;Name=lod=21 NA 3q22.3 Score=919;Name=V$AP1FJ_Q2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002472 NA 0.01 D 1.0 D 0.997 D 0.000 D 1.000 D . . 0.33 T -0.173 T 0.407 T 0.699 3.133 16.47 5.44 2.562 5.686 16.744 3.133496 3.133496 0 NA NA NA NA NA 18.3333087 38 3 58191244 58191244 G A exonic DNASE1L3 NA nonsynonymous SNV DNASE1L3:NM_004944:exon3:c.C274T:p.R92W exonic ENSG00000163687 NA nonsynonymous SNV ENSG00000163687:ENST00000394549:exon3:c.C274T:p.R92W,ENSG00000163687:ENST00000461914:exon4:c.C274T:p.R92W,ENSG00000163687:ENST00000318316:exon5:c.C274T:p.R92W,ENSG00000163687:ENST00000460422:exon5:c.C274T:p.R92W,ENSG00000163687:ENST00000483681:exon5:c.C274T:p.R92W Score=458;Name=lod=97 NA 3p14.3 NA NA NA NA rs141477807 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0001 0.0013 0.03 D 1.0 D 1.0 D 0.000 D 1.000 D 3.285 M 0.26 T 0.066 D 0.475 T 0.965 3.965 20.3 5.77 2.728 1.145 14.289 3.965382 3.965382 0.01 0.000814 0 NA NA NA 18.3314194 38 1 155260382 155260382 C T exonic PKLR NA nonsynonymous SNV PKLR:NM_000298:exon11:c.G1706A:p.R569Q,PKLR:NM_181871:exon11:c.G1613A:p.R538Q exonic ENSG00000143627 NA nonsynonymous SNV ENSG00000143627:ENST00000342741:exon11:c.G1706A:p.R569Q,ENSG00000143627:ENST00000392414:exon11:c.G1613A:p.R538Q Score=594;Name=lod=347 NA 1q22 NA NA NA NA rs61755431 0.0014 0.0014 0.001 0.000599042 0.003 NA NA NA NA 0.004 NA NA NA 0.001 0.004 0.05 D 0.982 D 0.428 B 0.000 D 1.000 D 1.845 L -5.52 D 0.903 D 0.897 D 0.749 3.934 20.1 4.54 2.513 4.705 8.703 3.934272 3.934272 0.04 0.001628 0 NA NA NA 18.3277054 38 10 22019855 22019855 G A exonic MLLT10 NA nonsynonymous SNV MLLT10:NM_001195626:exon16:c.G2090A:p.R697H,MLLT10:NM_004641:exon18:c.G2138A:p.R713H exonic ENSG00000078403 NA nonsynonymous SNV ENSG00000078403:ENST00000438473:exon10:c.G1067A:p.R356H,ENSG00000078403:ENST00000377059:exon16:c.G2090A:p.R697H,ENSG00000078403:ENST00000307729:exon17:c.G2090A:p.R697H,ENSG00000078403:ENST00000446906:exon17:c.G2090A:p.R697H,ENSG00000078403:ENST00000377072:exon18:c.G2138A:p.R713H Score=691;Name=lod=861 NA 10p12.31 Score=804;Name=V$IRF7_01 NA Name=2 NA rs142554860 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0026 0.0036 0.29 T 0.257 B 0.039 B 0.000 D 1.000 D 1.78 L -3.61 D 0.343 D 0.739 D 0.849 3.062 16.22 5.63 2.642 7.058 13.918 3.062228 3.062228 0.02 0.003605 0 NA NA NA 18.3271284 39 X 106016268 106016268 A T exonic RNF128 NA nonsynonymous SNV RNF128:NM_024539:exon2:c.A532T:p.N178Y,RNF128:NM_194463:exon2:c.A610T:p.N204Y exonic ENSG00000133135 NA nonsynonymous SNV ENSG00000133135:ENST00000255499:exon2:c.A610T:p.N204Y,ENSG00000133135:ENST00000324342:exon2:c.A532T:p.N178Y,ENSG00000133135:ENST00000418562:exon3:c.A451T:p.N151Y Score=655;Name=lod=610 NA Xq22.3 Score=802;Name=V$HNF1_C NA NA NA rs56121637 0.0018 0.0018 NA NA NA NA NA NA NA 0.01 NA NA NA 0.0058 0.01 0 D 1.0 D 0.989 D 0.000 D 1.000 D 2.165 M 2.79 T -0.720 T 0.165 T 0.855 3.826 19.43 5.83 1.953 5.982 13.854 3.826298 3.826298 0 0.008918 0.001304 NA NA NA 18.3186154 39 1 94517254 94517254 C G exonic ABCA4 NA nonsynonymous SNV ABCA4:NM_000350:exon17:c.G2588C:p.G863A exonic ENSG00000198691 NA nonsynonymous SNV ENSG00000198691:ENST00000535735:exon16:c.G2366C:p.G789A,ENSG00000198691:ENST00000370225:exon17:c.G2588C:p.G863A Score=538;Name=lod=205 NA 1p22.1 NA NA NA NA rs76157638 0.0005 0.0005 NA 0.00119808 0.003 NA NA 0.0008 0.002 0.0013 NA NA NA 0.0051 0.0067 0.01 D 0.864 P 0.466 P 0.000 D 1.000 A 2.94 M -1.04 T 0.063 D 0.437 T 0.851 4.46 23.8 4.9 1.455 6.798 15.279 4.460092 4.460092 0 0.006744 0.00227 ID=COSM328066;OCCURENCE=1(pancreas) NA CLINSIG=pathogenic|pathogenic|untested;CLNDBN=Stargardt_disease_1|Cone-rod_dystrophy_3|not_provided;CLNREVSTAT=single|single|not;CLNACC=RCV000008328.1|RCV000008329.1|RCV000085494.1;CLNDSDB=MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|.;CLNDSDBID=C1855465:248200:ORPHA827|C1858806:604116:ORPHA1872|. 18.3184894 40 2 179400130 179400130 G A exonic TTN NA nonsynonymous SNV TTN:NM_003319:exon186:c.C74017T:p.R24673C,TTN:NM_133432:exon187:c.C74392T:p.R24798C,TTN:NM_133437:exon187:c.C74593T:p.R24865C,TTN:NM_133378:exon307:c.C93508T:p.R31170C,TTN:NM_001256850:exon308:c.C96289T:p.R32097C,TTN:NM_001267550:exon358:c.C101212T:p.R33738C exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000460472:exon186:c.C74017T:p.R24673C,ENSG00000155657:ENST00000342175:exon187:c.C74593T:p.R24865C,ENSG00000155657:ENST00000359218:exon187:c.C74392T:p.R24798C,ENSG00000155657:ENST00000342992:exon307:c.C93508T:p.R31170C,ENSG00000155657:ENST00000591111:exon308:c.C96289T:p.R32097C,ENSG00000155657:ENST00000589042:exon358:c.C101212T:p.R33738C Score=600;Name=lod=367 NA 2q31.2 Score=749;Name=V$STAT5A_02 NA NA NA rs56273463 0.0046 0.0046 0 0.00279553 0.005 NA 0.0115 NA 0.001 0.01 NA 0.01 NA 0.0056 0.01 0 D 1.0 D 0.998 D . . 1.000 D 2.18 M 0.35 T -0.405 T 0.287 T 0.505 3.712 18.85 5.52 2.754 7.867 19.811 3.711552 3.711552 NA 0.009761 0.002302 NA NA CLINSIG=probable-non-pathogenic|other;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|mult;CLNACC=RCV000040902.1|RCV000118798.2;CLNDSDB=.|.;CLNDSDBID=.|. 18.3129724 40 1 32158076 32158076 T C exonic COL16A1 NA nonsynonymous SNV COL16A1:NM_001856:exon16:c.A1193G:p.K398R exonic ENSG00000084636 NA nonsynonymous SNV ENSG00000084636:ENST00000373667:exon8:c.A350G:p.K117R,ENSG00000084636:ENST00000271069:exon16:c.A1193G:p.K398R,ENSG00000084636:ENST00000373668:exon16:c.A1193G:p.K398R,ENSG00000084636:ENST00000373672:exon16:c.A1193G:p.K398R Score=349;Name=lod=35 NA 1p35.2 NA NA NA NA rs115606583 0.0037 0.0037 0.004 0.00279553 0.007 NA 0.0086 NA 0.001 0.004 NA 0.01 NA 0.0051 0.033 0.44 T 1.0 D 1.0 D 0.000 D 1.000 D 0.45 N -3.76 D 0.360 D 0.740 D 0.224 2.119 13.04 4.53 1.816 1.756 8.593 2.119163 2.119163 0.25 0.008704 0.002039 NA 0.029 NA 18.3125294 41 1 55064970 55064970 C T exonic ACOT11 NA nonsynonymous SNV ACOT11:NM_015547:exon8:c.C766T:p.R256W,ACOT11:NM_147161:exon8:c.C766T:p.R256W exonic ENSG00000162390 NA nonsynonymous SNV ENSG00000162390:ENST00000343744:exon8:c.C766T:p.R256W,ENSG00000162390:ENST00000371316:exon8:c.C766T:p.R256W Score=425;Name=lod=71 NA 1p32.3 Score=852;Name=V$ZID_01 NA NA NA rs148238018 0.01 0.01 NA 0.00359425 0.0109 NA 0.0072 NA 0.002 0.01 0.0035 0.01 0.01 0.0133 0.02 0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.55 H 1.82 T -0.430 T 0.152 T 0.502 4.898 28.2 5.27 2.456 7.545 18.886 4.898406 4.898406 0 0.020233 0.003631 NA NA NA 18.2889004 42 20 35509130 35509130 T G exonic TLDC2 NA nonsynonymous SNV TLDC2:NM_080628:exon4:c.T415G:p.F139V exonic ENSG00000101342 NA nonsynonymous SNV ENSG00000101342:ENST00000217320:exon4:c.T415G:p.F139V,ENSG00000101342:ENST00000602922:exon4:c.T415G:p.F139V Score=439;Name=lod=81 NA 20q11.23 Score=731;Name=V$PAX4_04 NA NA NA rs41305821 0.01 0.01 0.01 0.00838658 0.0169 NA 0.0043 0.0008 0.0215 0.02 NA 0.01 NA 0.0188 0.023 0 D 1.0 D 0.993 D 0.000 D 1.000 D 3.32 M 0.18 T -0.119 T 0.296 T 0.342 4.397 23.3 4.9 1.839 6.368 12.045 4.397308 4.397308 0 0.022791 0.004993 ID=COSM1411556;OCCURENCE=1(large_intestine) 0.007 NA 18.2748424 43 1 40703244 40703244 G A exonic RLF NA nonsynonymous SNV RLF:NM_012421:exon8:c.G2870A:p.G957D exonic ENSG00000117000 NA nonsynonymous SNV ENSG00000117000:ENST00000372771:exon8:c.G2870A:p.G957D Score=601;Name=lod=368 NA 1p34.2 Score=1000;Name=V$AML1_01 NA Name=2 NA rs35042446 0.01 0.01 0.013 0.00938498 0.0288 NA 0.0144 NA 0.0082 0.03 NA 0.02 NA 0.0228 0.032 0.01 D 1.0 D 1.0 D 0.000 D 1.000 D 0.975 L 1.12 T -0.904 T 0.086 T 0.349 3.664 18.62 6.06 2.882 7.397 20.621 3.663764 3.663764 0 0.032326 0.005447 NA 0.007 NA 18.2494074 44 16 57693498 57693498 T C exonic GPR56 NA nonsynonymous SNV GPR56:NM_001145773:exon11:c.T1475C:p.M492T,GPR56:NM_201525:exon11:c.T1460C:p.M487T,GPR56:NM_001145770:exon12:c.T1460C:p.M487T,GPR56:NM_001145771:exon12:c.T1478C:p.M493T,GPR56:NM_001145772:exon12:c.T1460C:p.M487T,GPR56:NM_001145774:exon12:c.T1460C:p.M487T,GPR56:NM_005682:exon12:c.T1478C:p.M493T,GPR56:NM_201524:exon12:c.T1460C:p.M487T exonic ENSG00000205336 NA nonsynonymous SNV ENSG00000205336:ENST00000379694:exon10:c.T968C:p.M323T,ENSG00000205336:ENST00000379696:exon11:c.T1478C:p.M493T,ENSG00000205336:ENST00000388812:exon11:c.T1478C:p.M493T,ENSG00000205336:ENST00000456916:exon11:c.T1478C:p.M493T,ENSG00000205336:ENST00000544297:exon11:c.T935C:p.M312T,ENSG00000205336:ENST00000562631:exon11:c.T1460C:p.M487T,ENSG00000205336:ENST00000568909:exon11:c.T1478C:p.M493T,ENSG00000205336:ENST00000388813:exon12:c.T1460C:p.M487T,ENSG00000205336:ENST00000538815:exon12:c.T1460C:p.M487T,ENSG00000205336:ENST00000540164:exon12:c.T1460C:p.M487T,ENSG00000205336:ENST00000562558:exon12:c.T1460C:p.M487T,ENSG00000205336:ENST00000567835:exon12:c.T1478C:p.M493T,ENSG00000205336:ENST00000568908:exon12:c.T1460C:p.M487T Score=550;Name=lod=229 NA 16q21 Score=772;Name=V$PAX5_01 NA NA NA rs17379472 0.02 0.02 0.003 0.0169728 0.0358 NA 0.0533 0.0008 0.0112 0.03 NA 0.04 NA 0.032 0.04 0.01 D 0.997 D 0.967 D 0.000 D 1.000 D 2.61 M 0.63 T -0.627 T 0.103 T 0.852 4.2 21.8 4.9 1.836 7.481 13.715 4.200316 4.200316 0 0.034767 0.006142 NA 0.007 NA 18.2307664 45 1 224482084 224482084 C T exonic NVL NA nonsynonymous SNV NVL:NM_001243146:exon10:c.G643A:p.V215I,NVL:NM_001243147:exon11:c.G937A:p.V313I,NVL:NM_206840:exon11:c.G892A:p.V298I,NVL:NM_002533:exon12:c.G1210A:p.V404I exonic ENSG00000143748 NA nonsynonymous SNV ENSG00000143748:ENST00000340871:exon10:c.G643A:p.V215I,ENSG00000143748:ENST00000482491:exon10:c.G382A:p.V128I,ENSG00000143748:ENST00000361463:exon11:c.G892A:p.V298I,ENSG00000143748:ENST00000391875:exon11:c.G892A:p.V298I,ENSG00000143748:ENST00000469075:exon11:c.G937A:p.V313I,ENSG00000143748:ENST00000281701:exon12:c.G1210A:p.V404I Score=545;Name=lod=219 NA 1q42.11 NA NA NA NA rs34631151 0.02 0.02 0.016 0.0167732 0.0427 NA 0.0187 0.0015 0.0266 0.04 NA 0.02 0.002 0.0334 0.045 0.08 T 0.998 D 0.951 D 0.000 D 1.000 D 1.05 L -3.41 D 0.220 D 0.514 D 0.203 5.035 29.8 4.74 1.532 5.856 14.878 5.035457 5.035457 0 0.044767 0.008625 NA 0.014 NA 18.2124664 45 11 59481119 59481119 G T exonic OR10V1 NA nonsynonymous SNV OR10V1:NM_001005324:exon1:c.C200A:p.A67E exonic ENSG00000172289 NA nonsynonymous SNV ENSG00000172289:ENST00000307552:exon1:c.C200A:p.A67E Score=397;Name=lod=55 NA 11q12.1 Score=735;Name=V$LUN1_01 NA NA NA rs74398490 0.03 0.03 0.023 0.0285543 0.0457 0.0317 0.0144 0.0287 0.0174 0.05 0.01 0.01 0.03 0.0356 0.065 0 D 1.0 D 0.999 D 0.000 D 1.000 D 3.06 M 4.03 T -1.183 T 0.010 T 0.316 2.981 15.94 4.36 2.453 4.903 14.970 2.981346 2.981346 0 0.042957 0.026124 NA 0.043 NA 18.2090764 46 1 171162583 171162583 T C exonic FMO2 NA nonsynonymous SNV FMO2:NM_001460:exon3:c.T242C:p.F81S exonic ENSG00000094963 NA nonsynonymous SNV ENSG00000094963:ENST00000209929:exon3:c.T242C:p.F81S,ENSG00000094963:ENST00000441535:exon3:c.T242C:p.F81S Score=630;Name=lod=485 NA 1q24.3 Score=914;Name=V$MYB_Q6 NA NA NA rs2020860 0.09 0.09 0.099 0.103035 0.0447 0.002 0.0476 0.298 0.0429 0.04 NA 0.05 0.32 0.0605 0.32 0 D 0.999 D 0.991 D 0.000 D 0.003 P 3.97 H 0.15 T 0.326 D 0.489 T 0.336 4.324 22.7 5.44 2.062 2.960 15.165 4.324261 4.324261 0 0.047558 0.243985 NA 0.058 NA 18.1805754 46 12 69744014 69744014 C A exonic LYZ NA nonsynonymous SNV LYZ:NM_000239:exon2:c.C263A:p.T88N exonic ENSG00000090382 NA nonsynonymous SNV ENSG00000090382:ENST00000261267:exon2:c.C263A:p.T88N,ENSG00000090382:ENST00000548839:exon2:c.C263A:p.T88N,ENSG00000090382:ENST00000549690:exon2:c.C263A:p.T88N Score=389;Name=lod=51 NA 12q15 NA Name=HEY1 Name=5 NA rs1800973 0.02 0.02 0.016 0.0145767 0.0437 NA 0.0288 0.0008 0.0082 0.04 NA 0.04 0.0041 0.0427 0.07 . . 0.977 D 0.982 D 0.000 D 1.000 D 2.54 M -0.49 T -0.537 T 0.103 T 0.205 2.728 15.08 5.94 2.820 2.441 17.867 2.728201 2.728201 0.01 0.069767 0.01271 NA 0.014 NA 18.1771664 47 19 46133256 46133256 G A exonic EML2 NA nonsynonymous SNV EML2:NM_012155:exon7:c.C559T:p.L187F,EML2:NM_001193268:exon10:c.C1162T:p.L388F,EML2:NM_001193269:exon10:c.C1000T:p.L334F exonic ENSG00000125746 NA nonsynonymous SNV ENSG00000125746:ENST00000592853:exon2:c.C160T:p.L54F,ENSG00000125746:ENST00000586770:exon6:c.C493T:p.L165F,ENSG00000125746:ENST00000245925:exon7:c.C559T:p.L187F,ENSG00000125746:ENST00000588308:exon7:c.C559T:p.L187F,ENSG00000125746:ENST00000589876:exon7:c.C559T:p.L187F,ENSG00000125746:ENST00000399594:exon10:c.C1033T:p.L345F,ENSG00000125746:ENST00000536630:exon10:c.C1000T:p.L334F,ENSG00000125746:ENST00000587152:exon10:c.C1162T:p.L388F Score=468;Name=lod=106 NA 19q13.32 Score=845;Name=V$USF_01 NA Name=6 NA rs7252175 0.12 0.12 0.122 0.129193 0.1083 0.1032 0.1297 0.1626 0.1319 0.1 0.09 0.13 0.19 0.1254 0.19 0 D 1.0 D 0.999 D 0.000 D 0.000 P 3.39 M 4.77 T -1.012 T 0.001 T 0.383 3.311 17.13 4.74 2.491 4.183 15.269 3.311155 3.311155 0 0.132674 0.152973 NA 0.072 NA 17.9669594 48 6 123122464 123122464 C T exonic SMPDL3A NA nonsynonymous SNV SMPDL3A:NM_006714:exon4:c.C481T:p.P161S exonic ENSG00000172594 NA nonsynonymous SNV ENSG00000172594:ENST00000539041:exon3:c.C88T:p.P30S,ENSG00000172594:ENST00000368440:exon4:c.C481T:p.P161S Score=414;Name=lod=64 NA 6q22.31 NA NA Name=13 NA rs28385609 0.08 0.08 0.076 0.100639 0.1372 0.0248 0.0749 0.0507 0.227 0.15 0.02 0.07 0.05 0.1349 0.15 0.2 T 1.0 D 1.0 D 0.000 D 0.000 P 1.685 L -1.84 D 0.187 D 0.676 D 0.494 3.255 16.92 5.72 2.857 6.514 20.241 3.255243 3.255243 0 0.145698 0.046074 NA 0.08 NA 17.9155354 49 2 211060050 211060050 T G exonic ACADL NA nonsynonymous SNV ACADL:NM_001608:exon9:c.A997C:p.K333Q exonic ENSG00000115361 NA nonsynonymous SNV ENSG00000115361:ENST00000233710:exon9:c.A997C:p.K333Q Score=519;Name=lod=171 Name=Metabolite levels 2q34 Score=793;Name=V$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 50 19 54973653 54973653 C T exonic LENG9 NA nonsynonymous SNV LENG9:NM_198988:exon1:c.G1123A:p.E375K exonic ENSG00000182909 NA nonsynonymous SNV ENSG00000182909:ENST00000333834:exon1:c.G1123A:p.E375K Score=272;Name=lod=17 NA 19q13.42 NA Name=AP-2gamma,Max,Pol2-4H8,Pol2 Name=8 NA rs35752413 0.0041 0.0041 NA 0.00259585 0.008 NA 0.0072 NA NA 0.01 NA 0.01 NA 0.0063 0.01 0.02 D 0.99 D 0.823 P 0.000 U 0.916 D 2.045 M -0.12 T -0.440 T 0.244 T 0.666 2.878 15.59 3.48 1.024 3.057 8.930 2.877636 2.877636 0.01 0.009809 0.002729 NA NA NA 17.8092244 51 20 47989527 47989527 C T exonic KCNB1 NA nonsynonymous SNV KCNB1:NM_004975:exon2:c.G2570A:p.S857N exonic ENSG00000158445 NA nonsynonymous SNV ENSG00000158445:ENST00000371741:exon2:c.G2570A:p.S857N Score=444;Name=lod=85 NA 20q13.13 NA NA NA NA rs34280195 0.0046 0.0046 0.002 0.00539137 0.0129 NA 0.0101 NA 0.0072 0.01 NA 0.01 NA 0.0115 0.011 0 D 0.985 D 0.711 P 0.902 N 0.772 D 1.935 M -4.79 D 0.720 D 0.903 D 0.013 1.998 12.64 3.11 0.709 1.808 9.000 1.99825 1.99825 0 0.010465 0.001816 NA 0.007 NA 17.7984684 52 X 2836184 2836184 C T exonic ARSD NA nonsynonymous SNV ARSD:NM_001669:exon5:c.G524A:p.G175D exonic ENSG00000006756 NA nonsynonymous SNV ENSG00000006756:ENST00000381154:exon5:c.G524A:p.G175D Score=483;Name=lod=123 NA Xp22.33 NA Name=ZBTB7A_(SC-34508),CCNT2,HMGN3 NA NA rs73632976 0.08 0.08 0.17568 NA NA NA NA NA NA 0.07 0.07 0.09 0.11 0.0427 0.11 0.01 D 0.983 D 0.883 P 0.000 U 0.000 P 3.97 H -3.76 D -0.140 T 0.511 D 0.845 4.433 23.6 3.47 1.394 4.701 14.531 4.432561 4.432561 0 NA NA ID=COSM1636496;OCCURENCE=1(liver) NA NA 17.7906334 53 2 209179939 209179939 A G exonic PIKFYVE NA nonsynonymous SNV PIKFYVE:NM_015040:exon15:c.A1849G:p.M617V exonic ENSG00000115020 NA nonsynonymous SNV ENSG00000115020:ENST00000452564:exon14:c.A1681G:p.M561V,ENSG00000115020:ENST00000264380:exon15:c.A1849G:p.M617V Score=641;Name=lod=535 NA 2q34 NA Name=CTCF,CTCF_(C-20) Name=59 Score=112;Name=1357482_1_-_112 rs16840913 0.02 0.02 0.026 0.028155 0.0308 NA 0.0144 0.0651 0.0143 0.03 NA 0.01 0.05 0.0248 0.052 0.34 T 0.932 P 0.949 D 0.000 D 1.000 D 0.755 N -1.12 T -0.680 T 0.120 T 0.699 3.27 16.98 4.49 1.083 9.287 11.725 3.270494 3.270494 0.28 0.028488 0.051975 NA 0.029 NA 17.7492454 54 2 20133221 20133221 C T exonic WDR35 NA nonsynonymous SNV WDR35:NM_020779:exon22:c.G2599A:p.A867T,WDR35:NM_001006657:exon23:c.G2632A:p.A878T exonic ENSG00000118965 NA nonsynonymous SNV ENSG00000118965:ENST00000281405:exon22:c.G2599A:p.A867T,ENSG00000118965:ENST00000345530:exon23:c.G2632A:p.A878T Score=520;Name=lod=173 NA 2p24.1 NA Name=GATA3_(SC-268),ERalpha_a,p300_(N-15),GR,JunD,Pol2(b),c-Fos,PU.1,p300,Pol2,FOXA1_(C-20),GATA-2,c-Jun Name=118 NA rs2293669 0.05 0.05 0.044 0.0419329 0.0666 0.0298 0.0403 0.0439 0.0276 0.07 0.02 0.05 0.05 0.0545 0.079 0.32 T 0.978 D 0.632 P 0.000 D 1.000 D 2.53 M 1.88 T -1.148 T 0.009 T 0.273 5.369 34 5.29 2.635 5.610 18.270 5.368739 5.368739 0.01 0.078605 0.036995 NA 0.072 NA 17.6336284 55 1 109440215 109440215 G A exonic GPSM2 NA nonsynonymous SNV GPSM2:NM_013296:exon4:c.G380A:p.R127Q exonic ENSG00000121957 NA nonsynonymous SNV ENSG00000121957:ENST00000264126:exon4:c.G380A:p.R127Q,ENSG00000121957:ENST00000435987:exon4:c.G380A:p.R127Q,ENSG00000121957:ENST00000406462:exon5:c.G380A:p.R127Q Score=488;Name=lod=128 NA 1p13.3 Score=848;Name=V$CEBP_C NA NA NA rs41279678 0.08 0.08 0.093 0.0688898 0.0984 0.002 0.0447 0.1218 0.0532 0.1 0.0017 0.06 0.14 0.0865 0.14 0.4 T 0.933 P 0.242 B 0.000 D 0.000 P 1.86 L -3.35 D 0.103 D 0.586 D 0.355 4.603 25.1 5.01 1.489 8.031 16.513 4.603107 4.603107 0 0.09814 0.097821 NA 0.094 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038784.1;CLNDSDB=.;CLNDSDBID=. 17.5502934 56 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=NRSF,eGFP-JunD,c-Fos,JunD,GATA-2,HA-E2F1,CTCF,c-Jun 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 57 16 3432993 3432993 G C exonic ZSCAN32 NA nonsynonymous SNV ZSCAN32:NM_017810:exon6:c.C1317G:p.H439Q exonic ENSG00000140987 NA nonsynonymous SNV ENSG00000140987:ENST00000439568:exon3:c.C1086G:p.H362Q,ENSG00000140987:ENST00000304926:exon6:c.C1317G:p.H439Q,ENSG00000140987:ENST00000396846:exon6:c.C1953G:p.H651Q,ENSG00000140987:ENST00000396852:exon7:c.C1953G:p.H651Q Score=352;Name=lod=36 NA 16p13.3 NA Name=SETDB1,KAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 1.0 D 0.997 D . . 1.000 N 3.85 H -2.18 D 0.016 D 0.807 D 0.412 1.442 10.76 -0.52 0.041 -0.350 2.933 1.441527 1.441527 0 NA NA NA NA NA 17.3333334 57 X 48920046 48920046 C T exonic CCDC120 NA nonsynonymous SNV CCDC120:NM_001163321:exon4:c.C202T:p.R68W,CCDC120:NM_001163322:exon4:c.C61T:p.R21W,CCDC120:NM_001163323:exon4:c.C61T:p.R21W,CCDC120:NM_001271835:exon4:c.C97T:p.R33W,CCDC120:NM_001271836:exon4:c.C97T:p.R33W,CCDC120:NM_033626:exon4:c.C97T:p.R33W exonic ENSG00000147144 NA nonsynonymous SNV ENSG00000147144:ENST00000376396:exon4:c.C97T:p.R33W,ENSG00000147144:ENST00000422185:exon4:c.C97T:p.R33W,ENSG00000147144:ENST00000496529:exon4:c.C97T:p.R33W,ENSG00000147144:ENST00000536628:exon4:c.C61T:p.R21W,ENSG00000147144:ENST00000597275:exon4:c.C97T:p.R33W,ENSG00000147144:ENST00000603906:exon4:c.C179T:p.A60V,ENSG00000147144:ENST00000603986:exon4:c.C202T:p.R68W Score=524;Name=lod=179 NA Xp11.23 Score=803;Name=V$ER_Q6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA 0.03 D 1.0 D 0.993 D 0.000 D 0.733 D 1.445 L . . -0.340 T 0.296 T 0.619 3.603 18.34 2.8 0.137 1.040 13.416 3.603058 3.603058 0.02 NA NA NA NA NA 17.3333334 57 22 50885800 50885800 G A exonic SBF1 NA nonsynonymous SNV SBF1:NM_002972:exon40:c.C5534T:p.T1845M exonic ENSG00000100241 NA nonsynonymous SNV ENSG00000100241:ENST00000348911:exon39:c.C5459T:p.T1820M,ENSG00000100241:ENST00000390679:exon39:c.C5456T:p.T1819M,ENSG00000100241:ENST00000380817:exon40:c.C5534T:p.T1845M Score=557;Name=lod=245 NA 22q13.33 Score=903;Name=V$USF_02 NA NA NA rs374954381 NA NA NA 0.000199681 NA 0.001 NA NA NA NA NA NA NA 0.00004145 0.0002 0.21 T 0.999 D 0.93 D 0.000 D 0.999 D 2.135 M 2.68 T -1.123 T 0.074 T 0.437 2.777 15.25 3.22 1.818 6.010 10.060 2.777424 2.777424 0.03 0 0.00023 NA NA NA 17.333292 57 11 111637064 111637064 C G exonic PPP2R1B NA nonsynonymous SNV PPP2R1B:NM_001177562:exon1:c.G22C:p.G8R,PPP2R1B:NM_001177563:exon1:c.G22C:p.G8R,PPP2R1B:NM_002716:exon1:c.G22C:p.G8R,PPP2R1B:NM_181699:exon1:c.G22C:p.G8R,PPP2R1B:NM_181700:exon1:c.G22C:p.G8R exonic ENSG00000137713 NA nonsynonymous SNV ENSG00000137713:ENST00000311129:exon1:c.G22C:p.G8R,ENSG00000137713:ENST00000341980:exon1:c.G22C:p.G8R,ENSG00000137713:ENST00000393055:exon1:c.G22C:p.G8R,ENSG00000137713:ENST00000426998:exon1:c.G22C:p.G8R,ENSG00000137713:ENST00000527614:exon1:c.G22C:p.G8R,ENSG00000137713:ENST00000534500:exon1:c.G22C:p.G8R,ENSG00000137713:ENST00000534521:exon1:c.G22C:p.G8R NA NA 11q23.1 Score=817;Name=V$HEN1_01 Name=TBP,YY1,YY1_(C-20),TAF1,Pol2-4H8,Pol2,E2F6_(H-50) Name=148 NA rs142771326 0.0009 0.0009 NA 0.000798722 NA NA 0.0014 0.0023 NA NA NA 0.0028 0.002 0.0002 0.0028 0.01 D 0.999 D 0.995 D 0.650 N 0.615 D 1.5 L . . -0.509 T 0.280 T 0.255 3.792 19.25 4.31 1.175 1.546 12.022 3.791643 3.791643 0 0 0.001363 NA NA NA 17.3331334 57 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$ZIC3_01 NA NA NA rs1042602 0.18 0.18 0.171 0.123403 0.3718 0.001 0.2378 0.0121 0.0634 0.37 0.0017 0.31 0.01 0.2518 0.38 . . 0.997 D 0.974 D 0.000 D 1.000 P 2.135 M -5.1 D -1.784 T 0.000 T 0.455 3.276 17 6.07 2.885 4.436 15.385 3.27596 3.27596 0.07 0.376716 0.075647 ID=COSM430000;OCCURENCE=1(breast) 0.232 CLINSIG=other|non-pathogenic|untested;CLNDBN=Skin/hair/eye_pigmentation\x2c_variation_in\x2c_3|Oculocutaneous_albinism_type_1A|not_provided;CLNREVSTAT=single|single|not;CLNACC=RCV000003977.4|RCV000055807.1|RCV000085955.1;CLNDSDB=MedGen:OMIM|GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT|.;CLNDSDBID=C2677190:601800|NBK1166:C0268494:203100:ORPHA352731:ORPHA79431:6483008|. 17.3330174 58 3 140409837 140409837 G A exonic TRIM42 NA nonsynonymous SNV TRIM42:NM_152616:exon4:c.G1888A:p.V630M exonic ENSG00000155890 NA nonsynonymous SNV ENSG00000155890:ENST00000286349:exon4:c.G1888A:p.V630M Score=532;Name=lod=193 NA 3q23 Score=783;Name=V$HTF_01 NA NA NA rs79845561 0.0032 0.0032 0.002 0.00199681 0.003 NA 0.0058 0.0023 NA 0.01 NA 0.01 NA 0.0032 0.01 0 D 1.0 D 0.999 D 0.000 D 0.885 D 0.695 N 0.38 T -0.600 T 0.174 T 0.846 4.14 21.4 5.82 2.754 4.171 15.601 4.139553 4.139553 0.01 0.005 0.000681 NA NA NA 17.3221334 58 9 95179071 95179071 G A exonic OMD NA nonsynonymous SNV OMD:NM_005014:exon2:c.C770T:p.P257L exonic ENSG00000127083 NA nonsynonymous SNV ENSG00000127083:ENST00000375550:exon2:c.C770T:p.P257L Score=358;Name=lod=38 NA 9q22.31 Score=870;Name=V$OCT1_06 NA NA NA rs34607425 0.0037 0.0037 NA 0.00159744 0.006 NA NA 0.0015 NA 0.01 NA NA 0.0041 0.0024 0.01 0.03 D 0.993 D 0.913 D 0.002 N 1.000 D 2.1 M 0.26 T -0.458 T 0.263 T 0.558 4.186 21.7 4.5 2.735 6.342 15.364 4.186066 4.186066 0 0.004071 0.000455 NA NA NA 17.3208624 58 2 48809609 48809609 C G exonic STON1,STON1-GTF2A1L NA nonsynonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.C1837G:p.P613A,STON1-GTF2A1L:NM_001198593:exon2:c.C1837G:p.P613A,STON1:NM_006873:exon2:c.C1837G:p.P613A,STON1-GTF2A1L:NM_172311:exon2:c.C1837G:p.P613A,STON1:NM_001198595:exon3:c.C1837G:p.P613A exonic ENSG00000068781,ENSG00000243244 NA nonsynonymous SNV ENSG00000068781:ENST00000309827:exon1:c.C1837G:p.P613A,ENSG00000243244:ENST00000309835:exon1:c.C1837G:p.P613A,ENSG00000068781:ENST00000394751:exon1:c.C1837G:p.P613A,ENSG00000243244:ENST00000444932:exon1:c.C175G:p.P59A,ENSG00000068781:ENST00000394754:exon2:c.C1837G:p.P613A,ENSG00000068781:ENST00000402114:exon2:c.C1837G:p.P613A,ENSG00000243244:ENST00000404752:exon2:c.C1837G:p.P613A,ENSG00000068781:ENST00000405008:exon2:c.C1837G:p.P613A,ENSG00000243244:ENST00000406226:exon3:c.C1837G:p.P613A Score=474;Name=lod=113 NA 2p16.3 Score=901;Name=V$MEIS1_01 NA NA NA rs149692974 0.0023 0.0023 NA 0.00139776 0.007 NA NA NA NA 0.01 NA NA NA 0.0042 0.01 0.01 D 0.999 D 0.961 D 0.000 D 1.000 D 1.84 L 2.01 T -1.101 T 0.086 T 0.698 3.164 16.59 5.65 2.941 3.884 14.091 3.164393 3.164393 0 0.003953 0.000908 NA NA NA 17.3181804 58 8 21996199 21996199 G A exonic REEP4 NA nonsynonymous SNV REEP4:NM_025232:exon7:c.C661T:p.R221C exonic ENSG00000168476 NA nonsynonymous SNV ENSG00000168476:ENST00000306306:exon7:c.C661T:p.R221C Score=403;Name=lod=58 NA 8p21.3 NA Name=ZNF263 NA NA rs117450750 0.0023 0.0023 NA 0.00359425 0.005 NA 0.0058 NA 0.0092 0.0026 NA 0.01 NA 0.0055 0.01 0.01 D 0.004 B 0.001 B 0.000 D 1.000 D 1.935 M -2.44 D -0.169 T 0.478 T 0.458 3.455 17.7 4.13 1.116 2.044 6.406 3.454751 3.454751 0 0.005698 0.001589 NA NA NA 17.3171354 59 2 189861933 189861933 C A exonic COL3A1 NA nonsynonymous SNV COL3A1:NM_000090:exon25:c.C1804A:p.P602T exonic ENSG00000168542 NA nonsynonymous SNV ENSG00000168542:ENST00000304636:exon25:c.C1804A:p.P602T,ENSG00000168542:ENST00000317840:exon25:c.C1804A:p.P602T Score=439;Name=lod=81 NA 2q32.2 NA NA NA NA rs35795890 0.01 0.01 0.006 0.00459265 0.0119 NA 0.0086 0.003 0.001 0.01 NA 0.0028 0.0041 0.0044 0.01 0.13 T 0.5 P 0.491 P 0.000 D 1.000 D 1.61 L -3.21 D 0.468 D 0.750 D 0.464 2.708 15.02 6.03 2.868 3.704 20.155 2.707917 2.707917 0.18 0.006163 0.002951 NA NA NA 17.3108704 60 10 18828486 18828486 C G exonic CACNB2 NA nonsynonymous SNV CACNB2:NM_000724:exon13:c.C1651G:p.R551G,CACNB2:NM_201570:exon13:c.C1672G:p.R558G,CACNB2:NM_201590:exon13:c.C1654G:p.R552G,CACNB2:NM_001167945:exon14:c.C1618G:p.R540G,CACNB2:NM_201571:exon14:c.C1732G:p.R578G,CACNB2:NM_201572:exon14:c.C1660G:p.R554G,CACNB2:NM_201593:exon14:c.C1702G:p.R568G,CACNB2:NM_201596:exon14:c.C1816G:p.R606G,CACNB2:NM_201597:exon14:c.C1744G:p.R582G exonic ENSG00000165995 NA nonsynonymous SNV ENSG00000165995:ENST00000377328:exon7:c.C1066G:p.R356G,ENSG00000165995:ENST00000377315:exon13:c.C1672G:p.R558G,ENSG00000165995:ENST00000377319:exon13:c.C1537G:p.R513G,ENSG00000165995:ENST00000377329:exon13:c.C1654G:p.R552G,ENSG00000165995:ENST00000396576:exon13:c.C1651G:p.R551G,ENSG00000165995:ENST00000282343:exon14:c.C1732G:p.R578G,ENSG00000165995:ENST00000324631:exon14:c.C1816G:p.R606G,ENSG00000165995:ENST00000352115:exon14:c.C1744G:p.R582G,ENSG00000165995:ENST00000377331:exon14:c.C1660G:p.R554G Score=395;Name=lod=54 NA 10p12.31 NA NA NA NA rs61733968 0.01 0.01 NA 0.00439297 0.0139 NA 0.0101 0.0008 NA 0.02 NA 0.01 0.002 0.0092 0.02 0 D 0.999 D 0.963 D 0.001 D 1.000 D 1.65 L 1.97 T 0.105 D 0.473 T 0.433 3.172 16.61 5.91 2.813 4.984 15.647 3.171739 3.171739 0.01 0.016977 0.004085 NA NA NA 17.2932564 60 12 48538908 48538908 G A exonic PFKM NA nonsynonymous SNV PFKM:NM_001166688:exon20:c.G2087A:p.R696H,PFKM:NM_000289:exon21:c.G2087A:p.R696H,PFKM:NM_001166687:exon21:c.G2087A:p.R696H,PFKM:NM_001166686:exon23:c.G2300A:p.R767H exonic ENSG00000152556 NA nonsynonymous SNV ENSG00000152556:ENST00000395233:exon20:c.G1994A:p.R665H,ENSG00000152556:ENST00000547587:exon20:c.G2087A:p.R696H,ENSG00000152556:ENST00000551804:exon20:c.G1994A:p.R665H,ENSG00000152556:ENST00000312352:exon21:c.G2087A:p.R696H,ENSG00000152556:ENST00000359794:exon21:c.G2087A:p.R696H,ENSG00000152556:ENST00000340802:exon23:c.G2300A:p.R767H Score=585;Name=lod=319 NA 12q13.11 Score=988;Name=V$EN1_01 NA NA NA rs41291971 0.01 0.01 0.006 0.00379393 0.0149 NA 0.0014 0.0008 0.002 0.02 NA 0.0028 0.002 0.0097 0.02 0.18 T 0.995 D 0.944 D 0.000 D 1.000 D 1.965 M -1.43 T -0.053 T 0.454 T 0.769 4.549 24.6 5.05 2.793 9.317 18.590 4.54941 4.54941 0.03 0.016395 0.003858 ID=COSM1476583,COSM431170;OCCURENCE=1(breast) 0.007 NA 17.2923384 61 1 220193423 220193423 T C exonic EPRS NA nonsynonymous SNV EPRS:NM_004446:exon10:c.A1256G:p.Y419C exonic ENSG00000136628 NA nonsynonymous SNV ENSG00000136628:ENST00000366923:exon10:c.A1256G:p.Y419C Score=592;Name=lod=341 NA 1q41 NA NA NA NA rs114015346 0.01 0.01 0.006 0.00439297 0.0129 NA 0.0058 0.0008 0.0041 0.01 NA 0.0028 0.002 0.0152 0.022 0.02 D 0.998 D 0.933 D 0.000 D 1.000 D 3.04 M 1.85 T -0.775 T 0.105 T 0.4 4.168 21.6 4.68 1.009 5.769 12.337 4.167726 4.167726 0 0.02186 0.003177 NA 0.014 NA 17.2833734 61 16 14042077 14042077 A G exonic ERCC4 NA nonsynonymous SNV ERCC4:NM_005236:exon11:c.A2624G:p.E875G exonic ENSG00000175595 NA nonsynonymous SNV ENSG00000175595:ENST00000311895:exon11:c.A2624G:p.E875G Score=289;Name=lod=20 NA 16p13.12 NA NA NA NA rs1800124 0.01 0.01 0.008 0.00579073 0.0199 NA 0.0043 0.0008 0.0051 0.02 NA 0.01 0.002 0.0131 0.02 0 D 0.937 P 0.585 P 0.000 D 1.000 D 2.715 M 2.44 T -1.045 T 0.050 T 0.252 4.589 25 6.16 2.367 8.711 15.987 4.588915 4.588915 0 0.017442 0.004324 NA 0.007 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116989.3;CLNDSDB=.;CLNDSDBID=. 17.2828914 61 21 15873026 15873026 T C exonic SAMSN1 NA nonsynonymous SNV SAMSN1:NM_022136:exon6:c.A592G:p.T198A,SAMSN1:NM_001256370:exon7:c.A796G:p.T266A exonic ENSG00000155307 NA nonsynonymous SNV ENSG00000155307:ENST00000400564:exon2:c.A88G:p.T30A,ENSG00000155307:ENST00000400566:exon6:c.A592G:p.T198A,ENSG00000155307:ENST00000285670:exon7:c.A796G:p.T266A Score=573;Name=lod=285 NA 21q11.2 Score=836;Name=V$FAC1_01 NA NA NA rs62227165 0.01 0.01 0.003 0.00599042 0.0149 NA 0.0202 0.0008 NA 0.02 NA 0.02 NA 0.0132 0.025 0.04 D 0.998 D 0.994 D 0.000 D 0.998 D 0.635 N 3.22 T -1.010 T 0.066 T 0.133 4.169 21.6 5.77 2.194 4.226 16.090 4.169451 4.169451 0.02 0.024738 0.005685 NA NA NA 17.2804954 61 6 28499567 28499567 T C exonic GPX5 NA nonsynonymous SNV GPX5:NM_001509:exon3:c.T254C:p.L85P exonic ENSG00000224586 NA nonsynonymous SNV ENSG00000224586:ENST00000412168:exon3:c.T254C:p.L85P Score=461;Name=lod=100 NA 6p22.1 NA Name=CTCF,SMC3_(ab9263),Rad21 NA NA rs58554303 0.01 0.01 0.01 0.0061901 0.0199 0.005 0.0029 0.0008 0.0031 0.02 0.0017 0.0028 NA 0.0164 0.022 0.01 D 1.0 D 1.0 D 0.000 D 1.000 D 4.575 H 2.43 T -0.804 T 0.142 T 0.45 2.966 15.89 2.71 0.855 4.991 6.218 2.965781 2.965781 0.02 0.021744 0.007263 NA 0.007 NA 17.2752894 62 5 66460390 66460390 G A exonic MAST4 NA nonsynonymous SNV MAST4:NM_015183:exon28:c.G4816A:p.V1606I,MAST4:NM_001164664:exon29:c.G5383A:p.V1795I exonic ENSG00000069020 NA nonsynonymous SNV ENSG00000069020:ENST00000261569:exon26:c.G4801A:p.V1601I,ENSG00000069020:ENST00000403666:exon28:c.G4816A:p.V1606I,ENSG00000069020:ENST00000405643:exon28:c.G4846A:p.V1616I,ENSG00000069020:ENST00000403625:exon29:c.G5383A:p.V1795I,ENSG00000069020:ENST00000404260:exon29:c.G5392A:p.V1798I Score=369;Name=lod=42 NA 5q12.3 Score=768;Name=V$PAX5_02 NA NA NA rs17221458 0.01 0.01 0.003 0.00978435 0.0239 NA 0.0173 0.0015 0.0112 0.02 NA 0.02 0.0041 0.0188 0.021 0.01 D 0.999 D 0.994 D 0.000 D 1.000 D 1.04 L -0.54 T -0.267 T 0.274 T 0.134 4.958 28.9 5.14 2.659 7.297 18.805 4.95834 4.95834 0 0.021145 0.003846 NA 0.007 NA 17.2694884 63 12 51208122 51208122 C G exonic ATF1 NA nonsynonymous SNV ATF1:NM_005171:exon6:c.C571G:p.P191A exonic ENSG00000123268 NA nonsynonymous SNV ENSG00000123268:ENST00000539132:exon5:c.C166G:p.P56A,ENSG00000123268:ENST00000262053:exon6:c.C571G:p.P191A,ENSG00000123268:ENST00000552487:exon6:c.C571G:p.P191A Score=487;Name=lod=127 NA 12q13.12 NA NA NA NA rs2230674 0.01 0.01 0.007 0.0091853 0.0258 NA 0.0187 NA 0.0072 0.03 NA 0.02 NA 0.025 0.031 0.03 D 0.999 D 0.994 D 0.000 D 1.000 D 2.175 M 0.21 T -0.359 T 0.214 T 0.227 2.77 15.22 4.79 2.375 4.463 18.211 2.770176 2.770176 0.03 0.030814 0.006355 NA 0.007 NA 17.2517194 64 16 84270743 84270743 G A exonic KCNG4 NA nonsynonymous SNV KCNG4:NM_172347:exon2:c.C349T:p.P117S exonic ENSG00000168418 NA nonsynonymous SNV ENSG00000168418:ENST00000308251:exon2:c.C349T:p.P117S,ENSG00000168418:ENST00000568181:exon2:c.C349T:p.P117S Score=603;Name=lod=376 NA 16q24.1 Score=797;Name=V$LUN1_01 NA NA NA rs3803641 0.09 0.09 0.07 0.0980431 0.0268 0.2163 0.1254 0.0598 0.0818 0.03 0.21 0.09 0.06 0.0542 0.21 0 D 1.0 D 1.0 D 0.000 D 0.000 P 2.36 M -1.2 T -1.145 T 0.001 T 0.506 4.943 28.7 5.12 2.374 7.574 17.548 4.942666 4.942666 0.05 0.011395 0.041591 NA 0.036 NA 17.2409384 65 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 65 9 124103523 124103523 A G exonic STOM NA nonsynonymous SNV STOM:NM_198194:exon3:c.T329C:p.M110T,STOM:NM_004099:exon7:c.T824C:p.M275T exonic ENSG00000148175 NA nonsynonymous SNV ENSG00000148175:ENST00000347359:exon3:c.T329C:p.M110T,ENSG00000148175:ENST00000286713:exon7:c.T824C:p.M275T,ENSG00000148175:ENST00000538954:exon8:c.T671C:p.M224T Score=514;Name=lod=164 NA 9q33.2 NA NA NA NA rs41273438 0.02 0.02 0.019 0.019369 0.0368 NA 0.0216 0.0045 0.0399 0.04 NA 0.02 0.01 0.0288 0.04 0.02 D 0.115 B 0.322 B 0.000 D 1.000 D 1.53 L -4.51 D 0.507 D 0.870 D 0.296 3.13 16.46 4.86 2.032 8.856 13.796 3.130373 3.130373 0 0.039535 0.009079 NA 0.007 NA 17.2281984 66 6 129807629 129807629 C T exonic LAMA2 NA nonsynonymous SNV LAMA2:NM_001079823:exon55:c.C7748T:p.A2583V,LAMA2:NM_000426:exon56:c.C7760T:p.A2587V exonic ENSG00000196569 NA nonsynonymous SNV ENSG00000196569:ENST00000421865:exon56:c.C7760T:p.A2587V Score=501;Name=lod=145 NA 6q22.33 Score=886;Name=V$HLF_01 NA Name=7 NA rs2229848 0.6 0.6 0.586 0.583866 0.7177 0.6369 0.6239 0.41 0.5982 0.71 0.59 0.64 0.43 0.6678 0.73 . . 0.998 D 0.965 D 0.000 D 0.000 P 2.32 M -1.2 T 0.056 D 0.584 D 0.862 5.106 32 5.6 2.793 4.499 19.974 5.106118 5.106118 0.24 0.726512 0.46709 ID=COSM1440401;OCCURENCE=1(large_intestine) 0.536 NA 17.2213214 67 11 60197299 60197299 G A exonic MS4A5 NA nonsynonymous SNV MS4A5:NM_023945:exon1:c.G152A:p.G51E exonic ENSG00000166930 NA nonsynonymous SNV ENSG00000166930:ENST00000300190:exon1:c.G152A:p.G51E,ENSG00000166930:ENST00000531403:exon1:c.G152A:p.G51E,ENSG00000166930:ENST00000533885:exon1:c.G152A:p.G51E Score=371;Name=lod=43 NA 11q12.2 NA NA NA NA rs34169848 0.02 0.02 0.02 0.0159744 0.0507 NA 0.0259 0.0008 0.0102 0.04 NA 0.02 0.002 0.0364 0.059 0 D 1.0 D 1.0 D 0.000 D 0.961 D 2.93 M 2.9 T -1.099 T 0.014 T 0.797 2.666 14.87 4.66 2.578 3.950 13.245 2.665848 2.665848 0 0.05907 0.013164 NA 0.036 NA 17.1871634 68 6 73904557 73904557 C T exonic KCNQ5 NA nonsynonymous SNV KCNQ5:NM_001160134:exon12:c.C1889T:p.P630L,KCNQ5:NM_001160130:exon13:c.C2192T:p.P731L,KCNQ5:NM_001160132:exon14:c.C2249T:p.P750L,KCNQ5:NM_019842:exon14:c.C2219T:p.P740L,KCNQ5:NM_001160133:exon15:c.C2276T:p.P759L exonic ENSG00000185760 NA nonsynonymous SNV ENSG00000185760:ENST00000414165:exon12:c.C1889T:p.P630L,ENSG00000185760:ENST00000403813:exon13:c.C2192T:p.P731L,ENSG00000185760:ENST00000370398:exon14:c.C2219T:p.P740L,ENSG00000185760:ENST00000402622:exon14:c.C2249T:p.P750L,ENSG00000185760:ENST00000342056:exon15:c.C2276T:p.P759L,ENSG00000185760:ENST00000355194:exon15:c.C2219T:p.P740L,ENSG00000185760:ENST00000355635:exon15:c.C2222T:p.P741L Score=544;Name=lod=216 NA 6q13 Score=791;Name=V$ROAZ_01 NA NA NA rs61743058 0.02 0.02 0.03 0.0173722 0.0527 0.002 0.0303 0.0008 0.0102 0.05 NA 0.03 0.002 0.0373 0.059 0 D 0.075 B 0.055 B 0.503 N 1.000 D 0.69 N -5.8 D 0.643 D 0.916 D 0.068 2.954 15.85 5.32 2.486 3.072 18.988 2.953963 2.953963 0 0.059302 0.007944 NA 0.036 NA 17.1840314 68 2 75720372 75720372 C T exonic EVA1A NA nonsynonymous SNV EVA1A:NM_001135032:exon4:c.G449A:p.R150H,EVA1A:NM_032181:exon4:c.G449A:p.R150H exonic ENSG00000115363 NA nonsynonymous SNV ENSG00000115363:ENST00000410010:exon2:c.G413A:p.R138H,ENSG00000115363:ENST00000233712:exon4:c.G449A:p.R150H,ENSG00000115363:ENST00000393913:exon4:c.G449A:p.R150H,ENSG00000115363:ENST00000410071:exon4:c.G449A:p.R150H,ENSG00000115363:ENST00000410113:exon5:c.G449A:p.R150H Score=505;Name=lod=151 NA 2p12 NA Name=HA-E2F1 NA NA rs11126472 0.04 0.04 0.034 0.0441294 0.0547 0.001 0.036 0.0764 0.0399 0.05 NA 0.04 0.07 0.0459 0.07 0.15 T 1.0 D 0.999 D 0.000 D 1.000 D 2.4 M 0.68 T -0.909 T 0.038 T 0.298 4.732 26.4 4.79 2.573 7.663 16.139 4.732446 4.732446 0.01 0.050944 0.06398 NA 0.043 NA 17.1817894 69 8 10396056 10396056 G C exonic PRSS55 NA nonsynonymous SNV PRSS55:NM_198464:exon5:c.G812C:p.S271T exonic ENSG00000184647 NA nonsynonymous SNV ENSG00000184647:ENST00000328655:exon5:c.G812C:p.S271T Score=493;Name=lod=135 NA 8p23.1 NA NA NA NA rs61743179 0.06 0.06 0.078 0.0682907 0.0616 0.001 0.0504 0.1808 0.0051 0.06 0.0017 0.05 0.15 0.0626 0.18 0 D 1.0 D 0.998 D 0.001 D 0.000 P 2.825 M -3.92 D -1.158 T 0.024 T 0.384 3.711 18.85 4.2 2.324 6.673 12.211 3.711347 3.711347 0 0.062674 0.184067 NA 0.065 NA 17.1464594 70 18 21424991 21424991 C A exonic LAMA3 NA nonsynonymous SNV LAMA3:NM_001127717:exon30:c.C3622A:p.P1208T,LAMA3:NM_198129:exon30:c.C3622A:p.P1208T exonic ENSG00000053747 NA nonsynonymous SNV ENSG00000053747:ENST00000313654:exon30:c.C3622A:p.P1208T,ENSG00000053747:ENST00000399516:exon30:c.C3622A:p.P1208T Score=484;Name=lod=124 NA 18q11.2 NA NA Name=63 NA rs17202961 0.04 0.04 0.033 0.0465256 0.0726 0.0516 0.0403 0.0015 0.0798 0.07 0.04 0.04 NA 0.064 0.07 0 D 1.0 D 0.968 D . . 1.000 D 2.865 M 1.74 T -0.949 T 0.024 T 0.301 3.084 16.3 5.46 2.740 5.565 19.685 3.084349 3.084349 0 0.064422 0.013691 NA 0.022 NA 17.1323114 71 14 59950676 59950676 A C exonic L3HYPDH NA nonsynonymous SNV L3HYPDH:NM_144581:exon1:c.T359G:p.L120R exonic ENSG00000126790 NA nonsynonymous SNV ENSG00000126790:ENST00000247194:exon1:c.T359G:p.L120R Score=440;Name=lod=82 NA 14q23.1 NA Name=EBF1_(C-8),CTCF_(SC-5916),Pol2-4H8,ZEB1_(SC-25388),CTCF_(C-20),TAF1,Znf143_(16618-1-AP),HEY1,HNF4G_(SC-6558),HA-E2F1,Pol2,FOXA1_(C-20),E2F6,E2F6_(H-50),CTCF,HDAC2_(SC-6296),PAX5-N19,CTCFL_(SC-98982),ZNF263,GR,c-Myc,PAX5-C20 Name=128 NA rs34741399 0.04 0.04 0.027 0.0235623 0.0736 NA 0.0519 0.0015 0.0061 0.07 NA 0.07 0.002 0.0787 0.07 0 D 0.883 P 0.601 P 0.000 D 1.000 D 1.23 L 2.07 T -1.199 T 0.006 T 0.183 2.852 15.5 5.1 2.039 8.399 11.785 2.851546 2.851546 0 0.06097 0.014178 NA 0.007 NA 17.1200634 72 6 48036327 48036327 A C exonic PTCHD4 NA nonsynonymous SNV PTCHD4:NM_001013732:exon1:c.T65G:p.V22G,PTCHD4:NM_207499:exon1:c.T65G:p.V22G exonic ENSG00000244694 NA nonsynonymous SNV ENSG00000244694:ENST00000339488:exon1:c.T65G:p.V22G,ENSG00000244694:ENST00000543600:exon1:c.T14G:p.V5G Score=869;Name=lod=4547 NA 6p12.3 Score=1000;Name=V$MYOD_Q6 Name=USF-1,TBP Name=34 NA rs200176519 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2458 NA 0.08 T 0.141 B 0.063 B 0.000 D 1.000 D 2.045 M 0.33 T -0.019 T 0.587 D 0.737 1.444 10.77 3.36 0.596 3.290 8.071 1.44363 1.44363 0.01 NA NA NA NA NA 17.0875334 73 21 31538692 31538692 C T exonic CLDN17 NA nonsynonymous SNV CLDN17:NM_012131:exon1:c.G244A:p.A82T exonic ENSG00000156282 NA nonsynonymous SNV ENSG00000156282:ENST00000286808:exon1:c.G244A:p.A82T Score=272;Name=lod=17 NA 21q22.11 Score=775;Name=V$PAX6_01 NA NA NA rs35531957 0.1 0.1 0.09 0.101238 0.1014 0.2143 0.0937 0.0129 0.1094 0.1 0.18 0.11 0.01 0.0944 0.18 0.04 D 0.997 D 0.978 D 0.000 N 0.000 P 2.34 M -2.66 D -1.012 T 0.011 T 0.225 5.306 34 5.22 2.885 7.545 18.951 5.305744 5.305744 0.01 0.08814 0.030413 NA 0.072 NA 17.0493934 74 6 50683009 50683009 T C exonic TFAP2D NA nonsynonymous SNV TFAP2D:NM_172238:exon2:c.T220C:p.F74L exonic ENSG00000008197 NA nonsynonymous SNV ENSG00000008197:ENST00000008391:exon2:c.T220C:p.F74L Score=860;Name=lod=4160 NA 6p12.3 Score=807;Name=V$GRE_C NA Name=4 NA rs78648104 0.09 0.09 0.086 0.0794728 0.1173 0.1815 0.0274 0.0045 0.0736 0.12 0.19 0.02 NA 0.09 0.19 0.24 T 0.805 P 0.827 P 0.002 N 0.000 P 0 N -4.18 D 0.694 D 0.768 D 0.424 1.745 11.8 5.07 2.022 7.816 15.124 1.745353 1.745353 0.1 0.087442 0.018611 NA 0.051 NA 17.0385914 75 12 52713088 52713088 G A exonic KRT83 NA nonsynonymous SNV KRT83:NM_002282:exon2:c.C445T:p.R149C exonic ENSG00000170523 NA nonsynonymous SNV ENSG00000170523:ENST00000293670:exon2:c.C445T:p.R149C Score=633;Name=lod=498 NA 12q13.13 NA Name=SMC3_(ab9263),Rad21,CTCF_(SC-5916),CTCF Name=17 NA rs2857663 0.1 0.1 0.113 0.127796 0.1034 0.0804 0.0576 0.1589 0.2096 0.1 0.07 0.08 0.16 0.119 0.16 0.01 D 0.067 B 0.077 B 0.048 U 1.000 D 3.115 M -2.54 D -0.757 T 0.010 T 0.306 3.343 17.25 4.39 2.157 9.621 12.453 3.342823 3.342823 0.01 0.111977 0.146164 NA 0.203 NA 16.9989564 76 16 58768129 58768129 C A exonic GOT2 NA nonsynonymous SNV GOT2:NM_002080:exon1:c.G4T:p.A2S exonic ENSG00000125166 NA nonsynonymous SNV ENSG00000125166:ENST00000245206:exon1:c.G4T:p.A2S,ENSG00000125166:ENST00000434819:exon1:c.G4T:p.A2S,ENSG00000125166:ENST00000568368:exon1:c.G4T:p.A2S Score=429;Name=lod=74 NA 16q21 Score=802;Name=V$YY1_02 Name=ZNF263,GTF2F1_(RAP-74),TBP,PU.1,E2F4,NRSF,TCF4,c-Myc,Oct-2,HEY1,HMGN3,TAF1,NFKB,Pol2-4H8,GABP,Ini1,POU2F2,CTCF,Pol2,Pol2(phosphoS2) 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 76 12 53165949 53165949 C T exonic KRT76 NA nonsynonymous SNV KRT76:NM_015848:exon5:c.G1066A:p.E356K exonic ENSG00000185069 NA nonsynonymous SNV ENSG00000185069:ENST00000332411:exon5:c.G1066A:p.E356K Score=366;Name=lod=41 NA 12q13.13 NA NA NA NA rs12296548 0.1 0.1 0.094 0.13778 0.1014 0.0972 0.0965 0.0817 0.3221 0.09 0.11 0.12 0.09 0.1355 0.12 0.01 D 1.0 D 0.995 D 0.000 D 0.000 P 3.07 M -2.99 D -0.589 T 0.119 T 0.349 4.18 21.6 4.42 2.398 6.020 17.898 4.179986 4.179986 0.01 0.121279 0.108034 NA 0.036 NA 16.9751544 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 78 3 69082708 69082708 C G exonic TMF1 NA nonsynonymous SNV TMF1:NM_007114:exon10:c.G2392C:p.D798H exonic ENSG00000144747 NA nonsynonymous SNV ENSG00000144747:ENST00000398559:exon10:c.G2392C:p.D798H,ENSG00000144747:ENST00000543976:exon10:c.G2401C:p.D801H Score=559;Name=lod=250 NA 3p14.1 NA Name=GATA-2 Name=85 NA rs1532918 0.07 0.07 0.076 0.0569089 0.1521 0.001 0.0764 0.0113 0.0644 0.16 NA 0.08 0.01 0.1063 0.16 0.01 D 1.0 D 0.995 D 0.000 D 0.000 P 1.87 L 2.15 T -1.265 T 0.001 T 0.695 4.791 27 5.83 2.770 7.786 20.134 4.790972 4.790972 0.02 0.148725 0.023587 NA 0.138 NA 16.9262084 79 14 88442712 88442712 C T exonic GALC NA nonsynonymous SNV GALC:NM_001201401:exon6:c.G673A:p.D225N,GALC:NM_000153:exon7:c.G742A:p.D248N,GALC:NM_001201402:exon7:c.G664A:p.D222N exonic ENSG00000054983 NA nonsynonymous SNV ENSG00000054983:ENST00000555000:exon2:c.G109A:p.D37N,ENSG00000054983:ENST00000393568:exon6:c.G673A:p.D225N,ENSG00000054983:ENST00000261304:exon7:c.G742A:p.D248N,ENSG00000054983:ENST00000393569:exon7:c.G664A:p.D222N,ENSG00000054983:ENST00000544807:exon7:c.G574A:p.D192N Score=451;Name=lod=91 NA 14q31.3 Score=802;Name=V$PBX1_02 NA NA NA rs34362748 0.09 0.09 0.072 0.0794728 0.159 0.005 0.1657 0.0174 0.0971 0.17 0.0035 0.15 0.02 0.1244 0.17 0.11 T 0.83 P 0.532 P 0.000 D 0.000 P 3.005 M -6.7 D -1.382 T 0.144 T 0.145 3.203 16.73 5.32 2.467 5.296 11.966 3.2028 3.2028 0.01 0.152053 0.044393 NA 0.058 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078206.1;CLNDSDB=.;CLNDSDBID=. 16.8978804 80 16 420140 420140 G A exonic MRPL28 NA nonsynonymous SNV MRPL28:NM_006428:exon2:c.C79T:p.H27Y exonic ENSG00000086504 NA nonsynonymous SNV ENSG00000086504:ENST00000199706:exon2:c.C79T:p.H27Y,ENSG00000086504:ENST00000389675:exon2:c.C79T:p.H27Y,ENSG00000086504:ENST00000441883:exon2:c.C79T:p.H27Y,ENSG00000086504:ENST00000447696:exon2:c.C79T:p.H27Y,ENSG00000086504:ENST00000450882:exon2:c.C79T:p.H27Y Score=329;Name=lod=29 NA 16p13.3 NA Name=E2F6_(H-50),Egr-1,ZBTB7A_(SC-34508) Name=10 NA rs3194151 0.1 0.1 0.113 0.112819 0.163 0.1508 0.085 0.0151 0.1738 0.15 0.12 0.09 0.01 0.1627 0.17 0.07 T 1.0 D 0.982 D 0.000 D 0.000 P 3.13 M 1.83 T -1.050 T 0.001 T 0.432 2.88 15.59 4.71 2.175 5.096 13.098 2.880014 2.880014 0.01 0.169695 0.038955 NA 0.116 NA 16.8379384 81 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 81 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 81 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=HA-E2F1,ZNF263,c-Myc 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 81 12 55886507 55886507 A G exonic OR6C68 NA nonsynonymous SNV OR6C68:NM_001005519:exon1:c.A346G:p.M116V exonic ENSG00000205327 NA nonsynonymous SNV ENSG00000205327:ENST00000379662:exon1:c.A361G:p.M121V,ENSG00000205327:ENST00000548615:exon1:c.A346G:p.M116V Score=374;Name=lod=44 NA 12q13.2 NA NA NA NA rs141646704 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004118 0.0005 0.01 D 0.968 D 0.619 P 0.000 D 0.991 D 3.95 H 5.46 T -1.113 T 0.016 T 0.627 2.408 14.01 4.77 2.138 8.166 14.446 2.408291 2.408291 0.01 0.000116 0.000454 NA NA NA 16.8331762 81 12 52579259 52579259 C T exonic KRT80 NA nonsynonymous SNV KRT80:NM_001081492:exon2:c.G413A:p.R138Q,KRT80:NM_182507:exon2:c.G413A:p.R138Q exonic ENSG00000167767 NA nonsynonymous SNV ENSG00000167767:ENST00000313234:exon2:c.G413A:p.R138Q,ENSG00000167767:ENST00000394815:exon2:c.G413A:p.R138Q Score=456;Name=lod=95 NA 12q13.13 Score=824;Name=V$AP4_01 NA Name=4 NA rs140425330 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004951 0.0001 0.02 D 0.909 P 0.197 B 0.046 N 0.801 D -0.39 N -2.34 D -0.194 T 0.305 T 0.146 3.123 16.44 3.95 1.270 1.267 11.971 3.123499 3.123499 0.06 0.000116 0 NA NA NA 16.8331679 81 17 7849130 7849130 G A exonic CNTROB NA nonsynonymous SNV CNTROB:NM_001037144:exon13:c.G1819A:p.V607M,CNTROB:NM_053051:exon13:c.G1819A:p.V607M exonic ENSG00000170037 NA nonsynonymous SNV ENSG00000170037:ENST00000380262:exon13:c.G1819A:p.V607M,ENSG00000170037:ENST00000563694:exon13:c.G1819A:p.V607M,ENSG00000170037:ENST00000565740:exon13:c.G1819A:p.V607M Score=376;Name=lod=45 NA 17p13.1 Score=796;Name=V$ARP1_01 NA NA NA rs201982090 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0002 0 D 0.998 D 0.897 P 0.000 D 1.000 D 0.895 L 0.86 T -0.891 T 0.149 T 0.78 3.865 19.64 3.48 1.304 3.205 6.241 3.864913 3.864913 0 0 0.000227 ID=COSM985731;OCCURENCE=1(endometrium) NA NA 16.8331334 81 3 169099171 169099171 T G exonic MECOM NA nonsynonymous SNV MECOM:NM_004991:exon2:c.A179C:p.E60A exonic ENSG00000085276 NA nonsynonymous SNV ENSG00000085276:ENST00000494292:exon2:c.A179C:p.E60A,ENSG00000085276:ENST00000486748:exon3:c.A251C:p.E84A Score=668;Name=lod=694 NA 3q26.2 Score=863;Name=V$SPZ1_01 NA NA NA rs369826375 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006631 0.0002 0.01 D 0.99 D 0.766 P 0.002 N 1.000 D 2.095 M 0.81 T -0.686 T 0.215 T 0.501 2.976 15.92 4.77 1.084 7.367 11.905 2.975977 2.975977 NA 0.000242 0 NA NA NA 16.8330251 81 5 16681986 16681986 C T exonic MYO10 NA nonsynonymous SNV MYO10:NM_012334:exon31:c.G4183A:p.V1395M exonic ENSG00000145555 NA nonsynonymous SNV ENSG00000145555:ENST00000274203:exon13:c.G2254A:p.V752M,ENSG00000145555:ENST00000427430:exon13:c.G2254A:p.V752M,ENSG00000145555:ENST00000505695:exon13:c.G2200A:p.V734M,ENSG00000145555:ENST00000515803:exon13:c.G2200A:p.V734M,ENSG00000145555:ENST00000513610:exon31:c.G4183A:p.V1395M Score=519;Name=lod=172 NA 5p15.1 NA NA NA NA rs180896948 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0004 0.0028 0.05 D 0.998 D 0.885 P . . 1.000 D 1.82 L -0.89 T 0.007 D 0.526 D 0.67 3.557 18.14 5.74 2.706 2.228 19.902 3.55711 3.55711 0.02 0.000831 0.000238 NA NA NA 16.8321024 81 17 3916824 3916824 C T exonic ZZEF1 NA nonsynonymous SNV ZZEF1:NM_015113:exon52:c.G8498A:p.G2833D exonic ENSG00000074755 NA nonsynonymous SNV ENSG00000074755:ENST00000381638:exon52:c.G8498A:p.G2833D Score=525;Name=lod=181 NA 17p13.2 Score=900;Name=V$SPZ1_01 NA NA NA rs147838442 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0005 0.0013 0.02 D 0.995 D 0.871 P 0.000 D 1.000 D 0.895 L 1.97 T -1.114 T 0.091 T 0.762 5.382 34 5.92 2.804 7.298 20.321 5.381883 5.381883 0.1 0.001047 0.000454 NA NA NA 16.8307864 81 20 3128854 3128854 A G exonic FASTKD5 NA nonsynonymous SNV FASTKD5:NM_021826:exon2:c.T863C:p.I288T exonic ENSG00000215251 NA nonsynonymous SNV ENSG00000215251:ENST00000380266:exon2:c.T863C:p.I288T Score=564;Name=lod=261 NA 20p13 Score=846;Name=V$CART1_01 NA NA NA rs2422857 0.0005 0.0005 NA 0.000599042 0.003 NA NA NA NA 0.0013 NA NA NA 0.0011 0.0026 0.03 D 0.997 D 0.879 P 0.000 D 1.000 D 1.1 L 2.14 T -1.093 T 0.089 T 0.653 3.313 17.14 5.67 2.157 8.603 15.908 3.313086 3.313086 0 0.002558 0.000908 NA NA NA 16.8266754 82 15 41679685 41679685 G C exonic NDUFAF1 NA nonsynonymous SNV NDUFAF1:NM_016013:exon5:c.C941G:p.A314G exonic ENSG00000137806 NA nonsynonymous SNV ENSG00000137806:ENST00000260361:exon5:c.C941G:p.A314G Score=539;Name=lod=207 NA 15q15.1 Score=895;Name=V$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 82 3 37670679 37670679 G A exonic ITGA9 NA nonsynonymous SNV ITGA9:NM_002207:exon16:c.G1691A:p.R564Q exonic ENSG00000144668 NA nonsynonymous SNV ENSG00000144668:ENST00000264741:exon16:c.G1691A:p.R564Q,ENSG00000144668:ENST00000422441:exon16:c.G1691A:p.R564Q Score=462;Name=lod=101 NA 3p22.2 NA Name=KAP1 Name=39 NA rs61751189 0.0009 0.0009 0 0.000998403 0.003 NA 0.0014 NA 0.001 0.0013 NA 0.0028 NA 0.0035 0.007 0.1 T 0.996 D 0.842 P 0.000 D 0.999 D 1.87 L 0.88 T -0.842 T 0.156 T 0.452 4.998 29.3 5.44 2.545 4.367 18.054 4.997512 4.997512 0.01 0.006977 0.000681 NA NA NA 16.8198564 83 19 12786449 12786449 G A exonic WDR83 NA nonsynonymous SNV WDR83:NM_032332:exon9:c.G911A:p.R304Q,WDR83:NM_001099737:exon11:c.G911A:p.R304Q exonic ENSG00000123154 NA nonsynonymous SNV ENSG00000123154:ENST00000242796:exon9:c.G911A:p.R304Q,ENSG00000123154:ENST00000418543:exon11:c.G911A:p.R304Q Score=497;Name=lod=139 NA 19p13.2 Score=708;Name=V$HOX13_01 Name=Pol2-4H8,Pol2 Name=3 NA rs35092999 0.01 0.01 0.006 0.00938498 0.006 NA 0.0533 NA 0.0041 0.01 NA 0.04 NA 0.0158 0.04 0.11 T 0.645 P 0.058 B 0.000 D 0.969 D 1.5 L 0.94 T -1.075 T 0.026 T 0.394 1.899 12.31 5.88 2.790 6.934 18.992 1.898534 1.898534 0.25 0.007907 0.000681 ID=COSM330364;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 16.8036264 84 8 124449466 124449466 C T exonic WDYHV1 NA nonsynonymous SNV WDYHV1:NM_018024:exon5:c.C400T:p.R134C exonic ENSG00000156795 NA nonsynonymous SNV ENSG00000156795:ENST00000287387:exon5:c.C400T:p.R134C,ENSG00000156795:ENST00000523356:exon5:c.C400T:p.R134C,ENSG00000156795:ENST00000523984:exon5:c.C220T:p.R74C Score=459;Name=lod=98 NA 8q24.13 Score=776;Name=V$AHRARNT_02 Name=c-Fos,c-Jun Name=38 NA rs3824250 0.39 0.39 0.372 0.410343 0.3121 0.5863 0.3919 0.3427 0.4346 0.31 0.57 0.38 0.28 0.3797 0.57 0.04 D 0.99 D 0.659 P 0.000 D 0.000 P 1.5 L 2.24 T -0.919 T 0.000 T 0.342 3.447 17.67 5.48 2.567 2.593 13.822 3.447205 3.447205 0.12 0.351977 0.363141 NA 0.304 NA 16.7895564 85 11 4870269 4870269 A T exonic OR51S1 NA nonsynonymous SNV OR51S1:NM_001004758:exon1:c.T170A:p.I57N exonic ENSG00000176922 NA nonsynonymous SNV ENSG00000176922:ENST00000322101:exon1:c.T170A:p.I57N NA NA 11p15.4 Score=886;Name=V$PAX4_02 Name=CTCF NA NA rs12417164 0.11 0.11 0.108 0.142772 0.1998 0.0308 0.1297 0.0666 0.3119 0.19 0.03 0.14 0.06 0.1795 0.19 0 D 0.999 D 0.985 D 0.001 D 0.000 P 3.555 H 3.06 T -1.085 T 0.000 T 0.332 2.408 14.01 4.85 2.031 4.873 13.409 2.407778 2.407778 0 0.193811 0.089732 NA 0.138 NA 16.7602224 86 2 111562875 111562875 C T exonic ACOXL NA nonsynonymous SNV ACOXL:NM_001142807:exon9:c.C656T:p.S219L exonic ENSG00000153093 NA nonsynonymous SNV ENSG00000153093:ENST00000417074:exon3:c.C170T:p.S57L,ENSG00000153093:ENST00000340561:exon9:c.C656T:p.S219L,ENSG00000153093:ENST00000389811:exon9:c.C656T:p.S219L,ENSG00000153093:ENST00000439055:exon9:c.C656T:p.S219L Score=243;Name=lod=13 NA 2q13 NA Name=NFKB NA NA rs77331476 0.01 0.01 0.008 0.0107827 0.0298 NA 0.0245 0.003 0.0031 0.03 NA 0.02 NA 0.0218 0.035 0.01 D 0.996 D 0.732 P 0.000 N 0.949 D 1.76 L 1.82 T 0.214 D 0.499 T 0.407 1.42 10.69 4.94 1.471 2.615 12.792 1.420145 1.420145 0 0.035 0.008852 NA NA NA 16.7467334 87 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 88 16 50745926 50745926 C T exonic NOD2 NA nonsynonymous SNV NOD2:NM_022162:exon4:c.C2104T:p.R702W exonic ENSG00000167207 NA nonsynonymous SNV ENSG00000167207:ENST00000300589:exon4:c.C2104T:p.R702W NA NA 16q12.1 Score=767;Name=V$PAX5_02 Name=NRSF Name=11 NA rs2066844 0.02 0.02 0.029 0.014377 0.0507 NA 0.0245 0.0023 0.001 0.05 NA 0.03 0.0041 0.0227 0.05 0.01 D 0.999 D 0.901 P 0.993 N 1.000 N 2.32 M -0.62 T -0.855 T 0.138 T 0.219 3.578 18.23 3.66 1.421 0.500 6.914 3.57849 3.57849 0 0.043488 0.008197 NA 0.014 CLINSIG=other;CLNDBN=Inflammatory_bowel_disease_1\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000004957.1;CLNDSDB=.;CLNDSDBID=. 16.7164454 89 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$EGR1_01 Name=Egr-1 NA NA rs35813871 0.13 0.13 0.122 0.100439 0.2157 0.001 0.1499 0.0862 0.0685 0.22 NA 0.17 0.12 0.1691 0.23 0 D 0.999 D 0.951 D . . 0.062 P 0.895 L 0.25 T -1.116 T 0.000 T 0.639 2.46 14.19 5.51 2.738 5.619 19.784 2.460217 2.460217 0 0.234535 0.102133 NA 0.13 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040075.2|RCV000125850.1;CLNDSDB=.|.;CLNDSDBID=.|. 16.7139984 90 1 55266797 55266797 G C exonic TTC22 NA nonsynonymous SNV TTC22:NM_001114108:exon1:c.C40G:p.L14V,TTC22:NM_017904:exon1:c.C40G:p.L14V exonic ENSG00000006555 NA nonsynonymous SNV ENSG00000006555:ENST00000371274:exon1:c.C40G:p.L14V,ENSG00000006555:ENST00000371276:exon1:c.C40G:p.L14V Score=492;Name=lod=133 NA 1p32.3 NA Name=Pol2,YY1_(C-20) NA NA rs671108 0.2 0.2 0.148 0.153554 0.2356 0.2639 0.2334 0.0265 0.0706 0.22 0.27 0.24 0.05 0.1988 0.27 0.05 D 0.999 D 0.994 D 0.000 D 0.000 P 1.905 M 0.17 T -1.148 T 0.000 T 0.181 2.975 15.92 4.13 2.279 2.057 15.674 2.974554 2.974554 0 0.202309 0.057149 NA 0.087 NA 16.6966244 91 11 55703011 55703011 G A exonic OR5I1 NA nonsynonymous SNV OR5I1:NM_006637:exon1:c.C866T:p.P289L exonic ENSG00000167825 NA nonsynonymous SNV ENSG00000167825:ENST00000301532:exon1:c.C866T:p.P289L Score=321;Name=lod=27 NA 11q12.1 NA NA NA NA rs61995929 0.03 0.03 0.026 0.0201677 0.0577 NA 0.036 0.0045 0.0123 0.05 NA 0.05 0.01 0.0412 0.053 0.01 D 0.977 D 0.46 P 0.000 D 1.000 D 4.135 H -0.04 T -0.190 T 0.119 T 0.476 2.25 13.48 4.78 2.339 4.095 15.667 2.250236 2.250236 0 0.053097 0.009773 NA NA NA 16.6813364 91 8 98656966 98656966 G T exonic MTDH NA nonsynonymous SNV MTDH:NM_178812:exon1:c.G232T:p.A78S exonic ENSG00000147649 NA nonsynonymous SNV ENSG00000147649:ENST00000336273:exon1:c.G232T:p.A78S,ENSG00000147649:ENST00000519934:exon1:c.G163T:p.A55S Score=519;Name=lod=171 NA 8q22.1 Score=741;Name=V$MYOGNF1_01 Name=TAF7_(SQ-8) Name=148 NA rs17854373 0.03 0.03 0.024 0.0247604 0.0547 NA 0.0274 0.0008 0.0501 0.06 NA 0.04 NA 0.0543 0.06 0.17 T 0.995 D 0.888 P 0.042 N 0.991 D 1.04 L 2.88 T -1.164 T 0.007 T 0.177 4.661 25.7 5.48 2.567 3.476 17.133 4.660641 4.660641 0.12 0.049058 0.010199 ID=COSM454990;OCCURENCE=1(breast) 0.058 NA 16.6752754 92 22 43568512 43568512 C T exonic TTLL12 NA nonsynonymous SNV TTLL12:NM_015140:exon10:c.G1390A:p.V464M exonic ENSG00000100304 NA nonsynonymous SNV ENSG00000100304:ENST00000216129:exon10:c.G1390A:p.V464M Score=409;Name=lod=61 NA 22q13.2 Score=788;Name=V$HTF_01 NA NA NA rs34074034 0.2 0.2 0.202 0.202476 0.2465 0.2351 0.1643 0.0598 0.3436 0.26 0.23 0.19 0.08 0.2297 0.26 0 D 0.999 D 0.986 D 0.000 D 0.000 P 2.585 M 3.12 T -1.153 T 0.000 T 0.198 4.265 22.3 5.31 2.466 5.546 18.968 4.264974 4.264974 0 0.237558 0.087381 NA 0.159 NA 16.6195754 93 11 57958497 57958497 T C exonic OR9Q2 NA nonsynonymous SNV OR9Q2:NM_001005283:exon1:c.T535C:p.C179R exonic ENSG00000186513 NA nonsynonymous SNV ENSG00000186513:ENST00000311591:exon1:c.T535C:p.C179R Score=395;Name=lod=54 NA 11q12.1 Score=828;Name=V$ATF_01 NA NA NA rs34337292 0.22 0.22 0.187 0.203874 0.2406 0.0734 0.2939 0.2806 0.1329 0.24 0.09 0.29 0.28 0.2396 0.29 0 D 0.993 D 0.936 D 0.000 D 0.000 P 4.04 H 0.02 T -1.137 T 0.000 T 0.46 3.741 19 5.08 2.264 4.986 14.467 3.741288 3.741288 0 0.262104 0.282826 NA 0.232 NA 16.5910294 94 22 50546666 50546666 C T exonic MOV10L1 NA nonsynonymous SNV MOV10L1:NM_001164104:exon4:c.C544T:p.R182C,MOV10L1:NM_001164105:exon4:c.C484T:p.R162C,MOV10L1:NM_018995:exon4:c.C544T:p.R182C exonic ENSG00000073146 NA nonsynonymous SNV ENSG00000073146:ENST00000262794:exon4:c.C544T:p.R182C,ENSG00000073146:ENST00000395858:exon4:c.C544T:p.R182C,ENSG00000073146:ENST00000540615:exon4:c.C484T:p.R162C,ENSG00000073146:ENST00000545383:exon5:c.C544T:p.R182C Score=426;Name=lod=72 NA 22q13.33 Score=849;Name=V$HMX1_01 NA NA NA rs3810971 0.24 0.24 0.196 0.246805 0.2346 0.248 0.3833 0.1225 0.3292 0.23 0.31 0.34 0.11 0.2855 0.34 0 D 1.0 D 0.96 D 0.000 D 0.000 P 2.215 M 0.91 T -1.018 T 0.000 T 0.497 3.57 18.2 4.2 2.480 2.470 10.401 3.570145 3.570145 0 0.238605 0.150931 NA 0.188 NA 16.5746284 95 11 8751889 8751889 C G exonic ST5 NA nonsynonymous SNV ST5:NM_213618:exon3:c.G948C:p.K316N,ST5:NM_005418:exon6:c.G948C:p.K316N exonic ENSG00000166444 NA nonsynonymous SNV ENSG00000166444:ENST00000313726:exon3:c.G948C:p.K316N,ENSG00000166444:ENST00000357665:exon4:c.G948C:p.K316N,ENSG00000166444:ENST00000534127:exon6:c.G948C:p.K316N Score=564;Name=lod=262 NA 11p15.4 Score=810;Name=V$IRF1_01 Name=ELF1_(SC-631),CTCF,SMC3_(ab9263),CTCFL_(SC-98982),Egr-1 NA NA rs3794153 0.32 0.32 0.29 0.280152 0.4354 0.3472 0.4539 0.0159 0.2853 0.43 0.4 0.36 0.03 0.4004 0.44 0.01 D 0.998 D 0.852 P 0.000 D 0.000 P 2.045 M 2.92 T -0.938 T 0.000 T 0.169 4.745 26.5 6.17 2.941 2.756 20.879 4.744853 4.744853 0 0.438709 0.090743 NA 0.319 NA 16.5588244 96 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 97 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 98 12 18649057 18649057 C T exonic PIK3C2G NA nonsynonymous SNV PIK3C2G:NM_004570:exon20:c.C2732T:p.P911L exonic ENSG00000139144 NA nonsynonymous SNV ENSG00000139144:ENST00000266497:exon19:c.C2732T:p.P911L,ENSG00000139144:ENST00000433979:exon20:c.C2732T:p.P911L,ENSG00000139144:ENST00000538779:exon20:c.C2855T:p.P952L Score=601;Name=lod=371 NA 12p12.3 NA NA NA NA rs12312266 0.32 0.32 0.315 0.374401 0.2425 0.3046 0.366 0.5008 0.4172 0.23 0.31 0.36 0.44 0.356 0.44 0.04 D 1.0 D 0.985 D 0.000 D 0.000 P 2.415 M -1.55 D -1.157 T 0.000 T 0.677 4.499 24.1 4.37 2.724 5.384 16.723 4.49889 4.49889 0 0.22562 0.444353 NA 0.406 NA 16.5092134 99 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 99 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$GATA1_04 NA NA NA rs2185913 0.24 0.24 0.231 0.203474 0.3012 0.3343 0.245 0.0182 0.1892 0.29 0.35 0.28 0.03 0.2598 0.35 0.02 D 1.0 D 1.0 D 0.000 D 0.000 P 2.44 M 2.32 T -1.062 T 0.000 T 0.478 4.513 24.3 6.17 2.371 7.283 16.822 4.512888 4.512888 0.02 0.292093 0.058103 ID=COSM147049;OCCURENCE=1(stomach) 0.174 NA 16.4802404 100 11 5510688 5510688 T C exonic OR52D1 NA nonsynonymous SNV OR52D1:NM_001005163:exon1:c.T752C:p.I251T exonic ENSG00000181609 NA nonsynonymous SNV ENSG00000181609:ENST00000322641:exon1:c.T752C:p.I251T Score=278;Name=lod=18 NA 11p15.4 NA Name=Pol2(b) NA NA rs7101919 0.18 0.18 0.165 0.154353 0.3111 0.0397 0.2767 0.0567 0.1564 0.31 0.05 0.27 0.09 0.2611 0.32 0 D 1.0 D 0.99 D 0.000 D 0.000 P 3.255 M 8.52 T -0.783 T 0.000 T 0.231 3.455 17.7 5.58 2.343 2.095 14.723 3.454892 3.454892 0 0.321969 0.096547 NA 0.275 NA 16.4391644 100 9 32480251 32480251 A T exonic DDX58 NA nonsynonymous SNV DDX58:NM_014314:exon12:c.T1740A:p.D580E exonic ENSG00000107201 NA nonsynonymous SNV ENSG00000107201:ENST00000379868:exon11:c.T1131A:p.D377E,ENSG00000107201:ENST00000379882:exon11:c.T1605A:p.D535E,ENSG00000107201:ENST00000545044:exon11:c.T1131A:p.D377E,ENSG00000107201:ENST00000379883:exon12:c.T1740A:p.D580E,ENSG00000107201:ENST00000542096:exon13:c.T1527A:p.D509E Score=414;Name=lod=64 NA 9p21.1 Score=752;Name=V$STAT5A_02 NA Name=4 NA rs17217280 0.08 0.08 0.072 0.0567093 0.1362 0.0129 0.1009 0.0068 0.0562 0.14 0.02 0.13 0.01 0.1107 0.15 0.42 T 0.973 D 0.766 P 0.000 D 0.007 P 2.435 M 1.02 T -1.054 T 0.001 T 0.319 4.172 21.6 4.67 2.051 1.645 13.795 4.172154 4.172154 0.03 0.147442 0.032229 NA 0.123 NA 16.4389914 100 3 58109162 58109162 G A exonic FLNB NA nonsynonymous SNV FLNB:NM_001164317:exon21:c.G3469A:p.D1157N,FLNB:NM_001164318:exon21:c.G3469A:p.D1157N,FLNB:NM_001164319:exon21:c.G3469A:p.D1157N,FLNB:NM_001457:exon21:c.G3469A:p.D1157N exonic ENSG00000136068 NA nonsynonymous SNV ENSG00000136068:ENST00000419752:exon20:c.G2962A:p.D988N,ENSG00000136068:ENST00000493452:exon20:c.G2962A:p.D988N,ENSG00000136068:ENST00000295956:exon21:c.G3469A:p.D1157N,ENSG00000136068:ENST00000348383:exon21:c.G3469A:p.D1157N,ENSG00000136068:ENST00000357272:exon21:c.G3469A:p.D1157N,ENSG00000136068:ENST00000358537:exon21:c.G3469A:p.D1157N,ENSG00000136068:ENST00000429972:exon21:c.G3469A:p.D1157N,ENSG00000136068:ENST00000490882:exon21:c.G3469A:p.D1157N Score=391;Name=lod=52 NA 3p14.3 NA Name=ZNF274 NA NA rs1131356 0.51 0.51 0.489 0.546126 0.2803 0.9187 0.4726 0.4758 0.5828 0.27 0.91 0.4 0.47 0.3732 0.91 0.06 T 1.0 D 0.999 D 0.000 D 0.000 P 2.105 M -1.96 D -0.962 T 0.000 T 0.082 3.725 18.92 5.08 1.537 9.869 15.223 3.725331 3.725331 0.01 0.243837 0.411484 NA 0.457 NA 16.4359964 101 19 36342212 36342212 C T exonic NPHS1 NA nonsynonymous SNV NPHS1:NM_004646:exon3:c.G349A:p.E117K exonic ENSG00000161270 NA nonsynonymous SNV ENSG00000161270:ENST00000353632:exon3:c.G349A:p.E117K,ENSG00000161270:ENST00000378910:exon3:c.G349A:p.E117K Score=295;Name=lod=21 NA 19q13.12 Score=760;Name=V$PAX5_01 Name=JunD,Rad21,ELF1_(SC-631),CTCF_(SC-5916),CTCF,Pol2 Name=13 NA rs3814995 0.34 0.34 0.304 0.291933 0.3111 0.5982 0.3444 0.056 0.2382 0.32 0.63 0.28 0.07 0.3148 0.63 0.91 T 0.999 D 0.973 D 0.000 D 0.000 P 1.22 L -0.18 T -1.004 T 0.000 T 0.327 3.691 18.75 5.92 2.828 2.555 17.896 3.690627 3.690627 0.05 0.305581 0.09192 NA 0.275 NA 16.4018524 102 3 48682480 48682480 C A exonic CELSR3 NA nonsynonymous SNV CELSR3:NM_001407:exon25:c.G7960T:p.A2654S exonic ENSG00000008300 NA nonsynonymous SNV ENSG00000008300:ENST00000164024:exon25:c.G7960T:p.A2654S,ENSG00000008300:ENST00000544264:exon26:c.G7975T:p.A2659S Score=478;Name=lod=117 NA 3p21.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07 T 1.0 D 0.998 D . . 1.000 D 3.585 H 1.25 T -0.166 T 0.336 T 0.799 5.056 30 5.15 2.402 7.465 18.621 5.055848 5.055848 0.01 NA NA NA NA NA 16.3333334 102 17 66872692 66872692 A G exonic ABCA8 NA nonsynonymous SNV ABCA8:NM_007168:exon33:c.T4159C:p.C1387R exonic ENSG00000141338 NA nonsynonymous SNV ENSG00000141338:ENST00000269080:exon33:c.T4159C:p.C1387R,ENSG00000141338:ENST00000430352:exon33:c.T4279C:p.C1427R,ENSG00000141338:ENST00000586539:exon35:c.T4279C:p.C1427R Score=415;Name=lod=65 NA 17q24.2 Score=746;Name=V$NRSF_01 NA NA NA rs201426674 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01 D 1.0 D 0.996 D 0.000 D 1.000 D 1.845 L 0.52 T -0.650 T 0.261 T 0.791 2.149 13.14 2.72 0.622 5.688 8.861 2.149109 2.149109 0.01 NA NA NA NA NA 16.3333334 102 6 56497826 56497826 T C exonic DST NA nonsynonymous SNV DST:NM_001723:exon14:c.A2020G:p.M674V,DST:NM_015548:exon14:c.A2020G:p.M674V,DST:NM_183380:exon24:c.A2998G:p.M1000V,DST:NM_001144770:exon25:c.A3118G:p.M1040V,DST:NM_001144769:exon27:c.A3532G:p.M1178V exonic ENSG00000151914 NA nonsynonymous SNV ENSG00000151914:ENST00000244364:exon14:c.A2020G:p.M674V,ENSG00000151914:ENST00000370765:exon14:c.A2020G:p.M674V,ENSG00000151914:ENST00000439203:exon14:c.A2020G:p.M674V,ENSG00000151914:ENST00000446842:exon14:c.A2020G:p.M674V,ENSG00000151914:ENST00000518935:exon14:c.A2020G:p.M674V,ENSG00000151914:ENST00000312431:exon24:c.A2998G:p.M1000V,ENSG00000151914:ENST00000361203:exon24:c.A2998G:p.M1000V,ENSG00000151914:ENST00000370769:exon24:c.A2998G:p.M1000V,ENSG00000151914:ENST00000370788:exon24:c.A2998G:p.M1000V,ENSG00000151914:ENST00000421834:exon24:c.A2998G:p.M1000V,ENSG00000151914:ENST00000520645:exon25:c.A3118G:p.M1040V,ENSG00000151914:ENST00000370754:exon27:c.A3532G:p.M1178V Score=657;Name=lod=624 NA 6p12.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002474 NA 0.18 T 0.865 P 0.824 P 0.000 D 0.817 N 1.87 L 0.81 T 0.074 D 0.532 D 0.759 2.585 14.61 5.69 2.305 3.685 8.088 2.58542 2.58542 0.03 NA NA NA NA NA 16.3333087 102 21 41455898 41455898 T C exonic DSCAM NA nonsynonymous SNV DSCAM:NM_001271534:exon24:c.A4168G:p.T1390A,DSCAM:NM_001389:exon24:c.A4168G:p.T1390A exonic ENSG00000171587 NA nonsynonymous SNV ENSG00000171587:ENST00000404019:exon20:c.A3424G:p.T1142A,ENSG00000171587:ENST00000400454:exon24:c.A4168G:p.T1390A Score=433;Name=lod=77 NA 21q22.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009978 NA 0.43 T 0.997 D 0.992 D 0.000 D 1.000 D 0.52 N 0.43 T -0.840 T 0.201 T 0.698 4.218 21.9 5.47 2.072 7.916 15.568 4.217631 4.217631 0.01 NA NA NA NA NA 16.3332336 102 10 1405261 1405261 G A exonic ADARB2 NA nonsynonymous SNV ADARB2:NM_018702:exon3:c.C1039T:p.H347Y exonic ENSG00000185736 NA nonsynonymous SNV ENSG00000185736:ENST00000381312:exon3:c.C1039T:p.H347Y Score=539;Name=lod=207 NA 10p15.3 Score=816;Name=V$RFX1_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 NA 0.36 T 0.148 B 0.171 B 0.000 D 1.000 D 1.955 M 1.95 T -1.089 T 0.072 T 0.328 0.228 5.231 5.24 2.445 7.431 18.851 0.228146 NA 0.59 NA NA NA NA NA 16.3332334 102 7 150389678 150389678 T C exonic GIMAP2 NA nonsynonymous SNV GIMAP2:NM_015660:exon3:c.T304C:p.S102P exonic ENSG00000106560 NA nonsynonymous SNV ENSG00000106560:ENST00000223293:exon3:c.T304C:p.S102P NA NA 7q36.1 NA Name=CTCF Name=2 NA rs368046535 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002474 0.0001 0.01 D 1.0 D 0.998 D 0.001 D 0.863 N 3.64 H 0.01 T -0.286 T 0.492 T 0.709 2.681 14.93 2.93 1.613 0.704 7.665 2.681434 2.681434 0 0.000116 0 NA NA NA 16.3331927 102 9 116053252 116053252 C T exonic PRPF4 NA nonsynonymous SNV PRPF4:NM_001244926:exon13:c.C1328T:p.T443I,PRPF4:NM_004697:exon13:c.C1331T:p.T444I exonic ENSG00000136875 NA nonsynonymous SNV ENSG00000136875:ENST00000374198:exon13:c.C1331T:p.T444I,ENSG00000136875:ENST00000374199:exon13:c.C1328T:p.T443I Score=525;Name=lod=181 NA 9q32 NA NA NA NA rs199753287 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 0.0001 0.02 D 0.999 D 0.987 D 0.000 D 1.000 D 1.515 L 0.13 T -0.450 T 0.331 T 0.866 4.786 26.9 5.82 2.752 7.109 17.255 4.786227 4.786227 0.01 0.000116 0 NA NA NA 16.3329174 102 15 30025358 30025358 G C exonic TJP1 NA nonsynonymous SNV TJP1:NM_003257:exon13:c.C1676G:p.A559G,TJP1:NM_175610:exon13:c.C1676G:p.A559G exonic ENSG00000104067 NA nonsynonymous SNV ENSG00000104067:ENST00000346128:exon13:c.C1676G:p.A559G,ENSG00000104067:ENST00000356107:exon13:c.C1676G:p.A559G,ENSG00000104067:ENST00000545208:exon13:c.C1676G:p.A559G,ENSG00000104067:ENST00000400011:exon14:c.C1688G:p.A563G Score=426;Name=lod=72 NA 15q13.1 NA NA NA NA rs201315605 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0001 0.011 . . 1.0 D 0.999 D 0.000 D 1.000 D 3.235 M 3.83 T -1.081 T 0.067 T 0.827 5.139 32 5.54 2.751 9.813 19.834 5.139271 5.139271 0.01 0.000244 0.000534 NA 0.007 NA 16.3319894 102 19 10106260 10106260 G A exonic COL5A3 NA nonsynonymous SNV COL5A3:NM_015719:exon16:c.C1567T:p.P523S exonic ENSG00000080573 NA nonsynonymous SNV ENSG00000080573:ENST00000264828:exon16:c.C1567T:p.P523S Score=463;Name=lod=102 NA 19p13.2 NA NA NA NA rs146164473 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0008 0.0009 0.13 T 0.805 P 0.575 P 0.184 N 0.802 D 2.335 M -4.06 D 0.981 D 0.877 D 0.351 3.2 16.71 4.01 1.252 0.372 11.330 3.199847 3.199847 0.21 0.00093 0.000454 NA NA NA 16.3316034 102 16 15729650 15729650 C T exonic KIAA0430 NA nonsynonymous SNV KIAA0430:NM_001184998:exon3:c.G694A:p.G232R,KIAA0430:NM_001184999:exon3:c.G694A:p.G232R,KIAA0430:NM_014647:exon3:c.G694A:p.G232R exonic ENSG00000166783 NA nonsynonymous SNV ENSG00000166783:ENST00000552553:exon2:c.G694A:p.G232R,ENSG00000166783:ENST00000344181:exon3:c.G160A:p.G54R,ENSG00000166783:ENST00000396368:exon3:c.G694A:p.G232R,ENSG00000166783:ENST00000540441:exon3:c.G694A:p.G232R,ENSG00000166783:ENST00000548025:exon3:c.G694A:p.G232R,ENSG00000166783:ENST00000551742:exon3:c.G694A:p.G232R,ENSG00000166783:ENST00000602337:exon3:c.G694A:p.G232R Score=532;Name=lod=193 NA 16p13.11 NA NA NA NA rs192438053 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0004 0.0013 0.01 D 0.999 D 0.913 D 0.001 D 1.000 D 1.79 L . . -0.189 T 0.399 T 0.753 4.869 27.9 5.91 2.793 2.857 20.299 4.869432 4.869432 0.01 0.000603 0.000254 NA NA NA 16.3313304 102 6 39859415 39859415 A G exonic DAAM2 NA nonsynonymous SNV DAAM2:NM_001201427:exon19:c.A2258G:p.D753G,DAAM2:NM_015345:exon19:c.A2258G:p.D753G exonic ENSG00000146122 NA nonsynonymous SNV ENSG00000146122:ENST00000274867:exon19:c.A2258G:p.D753G,ENSG00000146122:ENST00000398904:exon19:c.A2258G:p.D753G,ENSG00000146122:ENST00000538976:exon19:c.A2258G:p.D753G Score=526;Name=lod=183 NA 6p21.2 Score=785;Name=V$COMP1_01 NA NA NA rs200287086 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0017 0.0019 0.26 T 0.858 P 0.687 P 0.000 D 1.000 D 2.215 M -0.02 T -0.684 T 0.246 T 0.645 2.466 14.2 5.41 2.272 7.053 14.566 2.46585 2.46585 0.31 0.00191 0.000493 NA NA NA 16.3287234 102 8 17611809 17611809 G C exonic MTUS1 NA nonsynonymous SNV MTUS1:NM_001001924:exon2:c.C1508G:p.P503R,MTUS1:NM_001001925:exon2:c.C1508G:p.P503R exonic ENSG00000129422 NA nonsynonymous SNV ENSG00000129422:ENST00000519263:exon1:c.C1508G:p.P503R,ENSG00000129422:ENST00000262102:exon2:c.C1508G:p.P503R,ENSG00000129422:ENST00000381862:exon2:c.C1508G:p.P503R,ENSG00000129422:ENST00000381869:exon2:c.C1508G:p.P503R Score=512;Name=lod=160 NA 8p22 NA NA NA NA rs187072799 0.0018 0.0018 NA 0.00179712 0.002 NA 0.0101 NA NA NA NA 0.01 NA 0.0011 0.01 0 D 1.0 D 1.0 D 0.000 D 1.000 D 1.1 L 0.77 T -0.420 T 0.279 T 0.97 3.66 18.61 5.2 2.878 6.393 18.893 3.660187 3.660187 0 0.001574 0.000261 NA NA NA 16.3286594 102 10 31810679 31810679 A G exonic ZEB1 NA nonsynonymous SNV ZEB1:NM_001174093:exon6:c.A2356G:p.T786A,ZEB1:NM_001174095:exon6:c.A2215G:p.T739A,ZEB1:NM_001128128:exon7:c.A2368G:p.T790A,ZEB1:NM_001174094:exon7:c.A2365G:p.T789A,ZEB1:NM_001174096:exon7:c.A2419G:p.T807A,ZEB1:NM_030751:exon7:c.A2416G:p.T806A exonic ENSG00000148516 NA nonsynonymous SNV ENSG00000148516:ENST00000542815:exon6:c.A2215G:p.T739A,ENSG00000148516:ENST00000560721:exon6:c.A2356G:p.T786A,ENSG00000148516:ENST00000320985:exon7:c.A2416G:p.T806A,ENSG00000148516:ENST00000361642:exon7:c.A2419G:p.T807A,ENSG00000148516:ENST00000446923:exon7:c.A2368G:p.T790A Score=736;Name=lod=1301 NA 10p11.22 NA Name=CEBPB,FOXA1_(SC-101058) NA NA rs141194628 0.0014 0.0014 NA 0.00119808 0.002 NA 0.0029 NA 0.002 0.0026 NA 0.0028 NA 0.0025 0.0028 0.21 T 0.996 D 0.987 D 0.000 D 1.000 D 1.95 M 3.13 T -1.168 T 0.063 T 0.175 0.757 8.008 3.19 0.457 2.268 10.307 0.756835 NA 0.86 0.002442 0 NA NA NA 16.3263914 103 15 92690379 92690379 A G exonic SLCO3A1 NA nonsynonymous SNV SLCO3A1:NM_001145044:exon8:c.A1678G:p.I560V,SLCO3A1:NM_013272:exon8:c.A1678G:p.I560V exonic ENSG00000176463 NA nonsynonymous SNV ENSG00000176463:ENST00000318445:exon8:c.A1678G:p.I560V,ENSG00000176463:ENST00000424469:exon8:c.A1678G:p.I560V Score=525;Name=lod=182 NA 15q26.1 NA NA NA Score=108;Name=853106_0_-_108 rs141187463 0.0009 0.0009 NA 0.00119808 0.003 NA NA NA 0.0031 0.0026 NA NA NA 0.0022 0.0034 1 T 0.991 D 0.978 D 0.000 D 1.000 D 0.465 N 1.21 T -1.047 T 0.109 T 0.631 2.72 15.06 6.03 2.308 8.740 16.558 2.72046 2.72046 0.16 0.003374 0.00091 NA NA NA 16.3247594 103 17 29161517 29161517 G A exonic ATAD5 NA nonsynonymous SNV ATAD5:NM_024857:exon2:c.G418A:p.D140N exonic ENSG00000176208 NA nonsynonymous SNV ENSG00000176208:ENST00000321990:exon2:c.G418A:p.D140N,ENSG00000176208:ENST00000578295:exon2:c.G418A:p.D140N Score=340;Name=lod=32 NA 17q11.2 NA NA NA NA rs147909444 0.0014 0.0014 NA 0.000599042 0.003 NA NA NA NA 0.004 NA NA NA 0.0028 0.011 0 D 0.999 D 0.937 D 0.129 N 0.682 D 1.955 M 2.25 T -0.917 T 0.103 T 0.07 0.666 7.566 5.77 2.885 2.620 14.526 0.665682 NA 0 0.00419 0.001589 NA 0.007 NA 16.3233434 103 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$PAX4_01 Name=c-Myc NA NA rs12960 0.12 0.12 0.099 0.105831 0.166 0.131 0.1124 0.0098 0.1431 0.17 0.13 0.12 0.02 0.1509 0.19 0.42 T 0.818 P 0.258 B 0.000 D 0.000 P 0.505 N -1.69 D -1.051 T 0.001 T 0.289 4.264 22.2 5.21 2.423 9.423 17.776 4.264034 4.264034 0.05 0.193882 0.037534 NA 0.087 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118410.2;CLNDSDB=.;CLNDSDBID=. 16.3225514 103 17 69519 69519 T C exonic RPH3AL NA nonsynonymous SNV RPH3AL:NM_001190413:exon6:c.A535G:p.S179G,RPH3AL:NM_001190411:exon7:c.A622G:p.S208G,RPH3AL:NM_001190412:exon7:c.A535G:p.S179G,RPH3AL:NM_006987:exon8:c.A622G:p.S208G exonic ENSG00000181031 NA nonsynonymous SNV ENSG00000181031:ENST00000536489:exon6:c.A535G:p.S179G,ENSG00000181031:ENST00000323434:exon7:c.A535G:p.S179G,ENSG00000181031:ENST00000331302:exon8:c.A622G:p.S208G Score=437;Name=lod=80 NA 17p13.3 Score=741;Name=V$MEF2_04 NA NA NA rs144069985 0.0027 0.0027 0.002 0.00159744 0.005 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.0029 0.01 0.47 T 0.974 D 0.969 D 0.000 D 0.606 N 2.075 M . . -0.761 T 0.164 T 0.288 3.076 16.27 3.53 1.856 2.408 8.752 3.076204 3.076204 0 0.004186 0.000908 NA NA NA 16.3212474 103 17 72367973 72367973 T C exonic GPR142 NA nonsynonymous SNV GPR142:NM_181790:exon4:c.T623C:p.V208A exonic ENSG00000257008 NA nonsynonymous SNV ENSG00000257008:ENST00000335666:exon4:c.T623C:p.V208A Score=556;Name=lod=243 NA 17q25.1 NA NA NA NA rs148514779 0.0027 0.0027 NA 0.00159744 0.005 NA 0.0029 0.0008 NA 0.01 NA 0.01 NA 0.0028 0.01 0.01 D 0.983 D 0.933 D 0.000 D 0.995 D 1.5 L 1.15 T -0.879 T 0.124 T 0.723 4.616 25.2 4.99 2.188 5.848 14.435 4.615913 4.615913 0.03 0.005349 0.001135 NA NA NA 16.3201844 103 18 29101156 29101156 T G exonic DSG2 NA nonsynonymous SNV DSG2:NM_001943:exon5:c.T473G:p.V158G exonic ENSG00000046604 NA nonsynonymous SNV ENSG00000046604:ENST00000261590:exon5:c.T473G:p.V158G,ENSG00000046604:ENST00000585206:exon5:c.T473G:p.V158G Score=387;Name=lod=50 NA 18q12.1 Score=880;Name=V$FREAC4_01 NA NA NA rs191143292 0.0023 0.0023 NA 0.00139776 0.005 NA 0.0014 NA 0.001 0.01 NA 0.0028 NA 0.0054 0.01 0.01 D 0.05 B 0.03 B 0.003 U 1.000 D 3.32 M 0.02 T -0.566 T 0.226 T 0.793 0.322 5.746 3.16 0.974 3.088 8.751 0.322092 NA 0.01 0.007881 0.002403 ID=COSM1580808;OCCURENCE=3(haematopoietic_and_lymphoid_tissue) NA CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000037307.1|RCV000124794.1;CLNDSDB=.|.;CLNDSDBID=.|. 16.3150524 104 12 121416650 121416650 A C exonic HNF1A NA nonsynonymous SNV HNF1A:NM_000545:exon1:c.A79C:p.I27L exonic ENSG00000135100 NA nonsynonymous SNV ENSG00000135100:ENST00000257555:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000400024:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000402929:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000538646:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000540108:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000541395:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000541924:exon1:c.A79C:p.I27L,ENSG00000135100:ENST00000544413:exon1:c.A79C:p.I27L Score=479;Name=lod=118 Name=LDL cholesterol,Gamma gluatamyl transferase levels,Cholesterol, total 12q24.31 Score=755;Name=V$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 105 1 978762 978762 G A exonic AGRN NA nonsynonymous SNV AGRN:NM_198576:exon8:c.G1528A:p.G510S exonic ENSG00000188157 NA nonsynonymous SNV ENSG00000188157:ENST00000379370:exon8:c.G1528A:p.G510S Score=381;Name=lod=47 NA 1p36.33 Score=962;Name=V$MSX1_01 NA NA NA rs138288952 0.0027 0.0027 NA 0.00299521 0.0099 NA 0.0043 0.0015 NA 0.01 NA 0.01 NA 0.0083 0.013 0.51 T 0.991 D 0.949 D 0.000 D 1.000 D 0.49 N 3.85 T -0.773 T 0.014 T 0.185 3.177 16.63 4.76 2.195 3.205 17.782 3.177402 3.177402 0.22 0.012567 0.002505 NA NA NA 16.3025664 105 14 72054708 72054708 G A exonic SIPA1L1 NA nonsynonymous SNV SIPA1L1:NM_015556:exon2:c.G119A:p.R40Q exonic ENSG00000197555 NA nonsynonymous SNV ENSG00000197555:ENST00000358550:exon2:c.G119A:p.R40Q,ENSG00000197555:ENST00000381232:exon2:c.G119A:p.R40Q,ENSG00000197555:ENST00000555818:exon2:c.G119A:p.R40Q Score=509;Name=lod=156 NA 14q24.2 Score=985;Name=V$STAT3_02 NA NA NA rs78621209 0.01 0.01 0.012 0.00419329 0.0129 NA 0.0029 0.0008 0.0051 0.02 NA 0.0028 NA 0.0083 0.02 0.29 T 0.997 D 0.968 D 0.000 D 1.000 D 1.59 L -1.1 T -0.252 T 0.390 T 0.711 4.154 21.5 5.48 2.722 7.841 19.711 4.153911 4.153911 0.14 0.010814 0.001589 NA NA NA 16.3013194 105 6 78172750 78172750 A C exonic HTR1B NA nonsynonymous SNV HTR1B:NM_000863:exon1:c.T371G:p.F124C exonic ENSG00000135312 NA nonsynonymous SNV ENSG00000135312:ENST00000369947:exon1:c.T371G:p.F124C Score=591;Name=lod=335 NA 6q14.1 NA NA Name=58 NA rs130060 0.01 0.01 0.008 0.00339457 0.0129 NA 0.0029 0.0008 0.001 0.01 NA 0.01 NA 0.0093 0.013 . . 0.666 P 0.518 P 0.001 D 1.000 D 1.94 M 1.09 T -1.028 T 0.103 T 0.242 3.524 17.99 5.27 2.216 9.037 14.522 3.524107 3.524107 0 0.013488 0.003631 NA NA NA 16.2976454 106 17 33430313 33430313 T C exonic RAD51D NA nonsynonymous SNV RAD51D:NM_133629:exon5:c.A362G:p.E121G,RAD51D:NM_001142571:exon8:c.A758G:p.E253G,RAD51D:NM_002878:exon8:c.A698G:p.E233G exonic ENSG00000185379,ENSG00000267618 NA nonsynonymous SNV ENSG00000267618:ENST00000593039:exon4:c.A221G:p.E74G,ENSG00000185379:ENST00000335858:exon5:c.A362G:p.E121G,ENSG00000267618:ENST00000591723:exon5:c.A167G:p.E56G,ENSG00000185379:ENST00000587405:exon6:c.A341G:p.E114G,ENSG00000185379:ENST00000360276:exon7:c.A563G:p.E188G,ENSG00000185379:ENST00000460118:exon7:c.A341G:p.E114G,ENSG00000267618:ENST00000592181:exon7:c.A341G:p.E114G,ENSG00000185379:ENST00000345365:exon8:c.A698G:p.E233G,ENSG00000185379:ENST00000590016:exon8:c.A758G:p.E253G,ENSG00000185379:ENST00000592577:exon8:c.A704G:p.E235G,ENSG00000185379:ENST00000394589:exon9:c.A698G:p.E233G Score=558;Name=lod=248 NA 17q12 Score=714;Name=V$NRSF_01 NA NA NA rs28363284 0.01 0.01 NA 0.00439297 0.0109 NA 0.013 NA 0.002 0.01 NA 0.01 NA 0.0114 0.017 0.38 T 1.0 D 0.999 D 0.000 D 1.000 D 1.665 L 1.04 T -0.561 T 0.245 T 0.304 2.096 12.96 4.92 2.072 2.369 13.512 2.095698 2.095698 0.01 0.01686 0.004539 NA 0.014 NA 16.2941734 106 8 143816828 143816828 G A exonic THEM6 NA nonsynonymous SNV THEM6:NM_016647:exon2:c.G598A:p.G200R exonic ENSG00000130193 NA nonsynonymous SNV ENSG00000130193:ENST00000336138:exon2:c.G598A:p.G200R Score=325;Name=lod=28 NA 8q24.3 NA NA NA NA rs11540544 0.0027 0.0027 0.005 0.00219649 0.008 NA 0.0029 NA 0.001 0.01 NA NA NA 0.0194 0.013 0.05 D 1.0 D 1.0 D 0.000 D 1.000 D 1.67 L 0.93 T -0.814 T 0.152 T 0.323 1.492 10.94 4.07 2.104 2.712 11.646 1.491689 1.491689 0.02 0.012704 0.001366 NA NA NA 16.2932294 106 10 100017453 100017453 T G exonic LOXL4 NA nonsynonymous SNV LOXL4:NM_032211:exon8:c.A1214C:p.D405A exonic ENSG00000138131 NA nonsynonymous SNV ENSG00000138131:ENST00000260702:exon8:c.A1214C:p.D405A Score=420;Name=lod=68 NA 10q24.2 Score=847;Name=V$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 106 11 114393652 114393652 C T exonic NXPE1 NA nonsynonymous SNV NXPE1:NM_152315:exon5:c.G631A:p.G211R exonic ENSG00000095110 NA nonsynonymous SNV ENSG00000095110:ENST00000536271:exon3:c.G205A:p.G69R,ENSG00000095110:ENST00000424269:exon4:c.G1057A:p.G353R,ENSG00000095110:ENST00000251921:exon5:c.G631A:p.G211R Score=479;Name=lod=118 NA 11q23.2 NA NA Name=5 NA rs10891692 0.4 0.4 0.364 0.372204 0.337 0.6687 0.3069 0.2534 0.3098 0.33 0.66 0.3 0.25 0.3598 0.66 0 D 1.0 D 1.0 D 0.000 D 0.000 P 3.435 M -0.73 T -0.857 T 0.000 T 0.559 4.332 22.8 4.46 2.408 5.585 15.419 4.332185 4.332185 0 0.344856 0.27124 ID=COSM1179754;OCCURENCE=1(prostate) 0.428 NA 16.2916774 106 5 137522945 137522945 C T exonic KIF20A NA nonsynonymous SNV KIF20A:NM_005733:exon19:c.C2516T:p.P839L exonic ENSG00000112984 NA nonsynonymous SNV ENSG00000112984:ENST00000394894:exon19:c.C2516T:p.P839L,ENSG00000112984:ENST00000508792:exon20:c.C2462T:p.P821L Score=695;Name=lod=894 NA 5q31.2 NA NA NA NA rs3172747 0.01 0.01 0.006 0.00539137 0.0169 NA 0.0115 NA 0.002 0.01 NA 0.01 NA 0.0109 0.016 0.01 D 1.0 D 0.997 D 0.001 D 1.000 D 1.7 L -0.46 T -0.190 T 0.339 T 0.252 5.02 29.6 5.53 2.763 2.269 19.841 5.020329 5.020329 0.06 0.015814 0.002497 NA 0.007 NA 16.2897194 106 7 93540153 93540153 G C exonic GNGT1 NA nonsynonymous SNV GNGT1:NM_021955:exon3:c.G148C:p.E50Q exonic ENSG00000127928 NA nonsynonymous SNV ENSG00000127928:ENST00000429473:exon2:c.G148C:p.E50Q,ENSG00000127928:ENST00000248572:exon3:c.G148C:p.E50Q Score=284;Name=lod=19 NA 7q21.3 NA Name=c-Jun,CEBPB,c-Fos,STAT3,p300_(N-15) Name=92 NA rs17243826 NA NA 0.043 0.0427316 0.0229 NA 0.0259 0.1301 0.001 NA NA NA NA 0.0214 0.065 0.11 T 0.643 P 0.571 P 0.000 D 1.000 D . . 1.9 T -1.090 T 0.113 T 0.236 3.633 18.48 5.6 2.809 6.792 18.759 3.632547 3.632547 0.04 NA NA NA 0.051 NA 16.2890334 107 12 131311749 131311749 A C exonic STX2 NA nonsynonymous SNV STX2:NM_001980:exon2:c.T94G:p.F32V,STX2:NM_194356:exon2:c.T94G:p.F32V exonic ENSG00000111450 NA nonsynonymous SNV ENSG00000111450:ENST00000261653:exon2:c.T94G:p.F32V,ENSG00000111450:ENST00000392373:exon2:c.T94G:p.F32V Score=472;Name=lod=110 NA 12q24.33 NA NA NA NA rs137928907 0.01 0.01 0.004 0.00499201 0.0169 NA 0.0043 0.0015 0.0031 0.02 NA 0.01 0.002 0.0145 0.025 0.06 T 0.993 D 0.941 D 0.000 D 1.000 D 2.925 M 1.63 T -0.788 T 0.087 T 0.538 2.295 13.63 4.65 1.743 5.647 12.074 2.295038 2.295038 0 0.025465 0.005674 NA 0.014 NA 16.2764684 108 16 30569349 30569349 C T exonic ZNF764 NA nonsynonymous SNV ZNF764:NM_001172679:exon1:c.G155A:p.R52Q,ZNF764:NM_033410:exon1:c.G155A:p.R52Q exonic ENSG00000169951,ENSG00000260869 NA nonsynonymous SNV ENSG00000169951:ENST00000252797:exon1:c.G155A:p.R52Q,ENSG00000169951:ENST00000395091:exon1:c.G155A:p.R52Q,ENSG00000260869:ENST00000568114:exon1:c.G155A:p.R52Q Score=490;Name=lod=131 NA 16p11.2 Score=800;Name=V$PAX6_01 Name=CtBP2,CTCF,Pol2 Name=9 NA rs61744716 0.01 0.01 0.01 0.0091853 0.0239 NA 0.0187 0.0015 0.0072 0.02 NA 0.01 NA 0.0224 0.022 0.01 D 1.0 D 0.968 D 0.005 N 0.986 N 2.395 M 4.24 T -1.117 T 0.014 T 0.128 5.216 33 2.39 0.593 -0.042 7.226 5.21636 5.21636 0 0.021643 0.003414 NA 0.08 NA 16.2653904 109 22 24487739 24487739 G A exonic CABIN1 NA nonsynonymous SNV CABIN1:NM_001201429:exon23:c.G3578A:p.R1193H,CABIN1:NM_001199281:exon24:c.G3728A:p.R1243H,CABIN1:NM_012295:exon24:c.G3728A:p.R1243H exonic ENSG00000099991 NA nonsynonymous SNV ENSG00000099991:ENST00000405822:exon23:c.G3578A:p.R1193H,ENSG00000099991:ENST00000263119:exon24:c.G3728A:p.R1243H,ENSG00000099991:ENST00000398319:exon24:c.G3728A:p.R1243H Score=546;Name=lod=220 NA 22q11.23 NA Name=Pol2,CTCF,E2F6_(H-50),GATA-1 NA NA rs117908385 0.01 0.01 0.009 0.00798722 0.0328 NA 0.0072 0.0015 NA 0.04 NA 0.0028 0.002 0.0178 0.04 0.07 T 1.0 D 0.938 D 0.000 D 1.000 D 1.78 L 1.54 T -1.040 T 0.049 T 0.386 5.483 35 5.04 2.531 7.918 17.821 5.482768 5.482768 0.01 0.01814 0.002951 NA NA NA 16.2645934 109 1 55134585 55134585 A G exonic MROH7 NA nonsynonymous SNV MROH7:NM_001039464:exon5:c.A1364G:p.K455R exonic ENSG00000184313,ENSG00000271723 NA nonsynonymous SNV ENSG00000184313:ENST00000409996:exon3:c.A68G:p.K23R,ENSG00000184313:ENST00000438846:exon3:c.A1364G:p.K455R,ENSG00000184313:ENST00000440217:exon3:c.A68G:p.K23R,ENSG00000184313:ENST00000545244:exon3:c.A68G:p.K23R,ENSG00000184313:ENST00000413188:exon4:c.A1364G:p.K455R,ENSG00000184313:ENST00000422659:exon4:c.A1364G:p.K455R,ENSG00000184313:ENST00000339553:exon5:c.A1364G:p.K455R,ENSG00000184313:ENST00000395690:exon5:c.A1364G:p.K455R,ENSG00000271723:ENST00000414150:exon5:c.A1364G:p.K455R,ENSG00000184313:ENST00000421030:exon5:c.A1364G:p.K455R,ENSG00000184313:ENST00000440047:exon5:c.A1364G:p.K455R,ENSG00000271723:ENST00000606515:exon5:c.A1364G:p.K455R,ENSG00000271723:ENST00000425300:exon6:c.A1439G:p.K480R Score=321;Name=lod=27 NA 1p32.3 NA Name=CTCF NA NA rs2304314 0.03 0.03 0.027 0.0327476 0.0308 0.0179 0.0375 0.0408 0.0358 0.03 0.02 0.04 0.05 0.0242 0.05 0.02 D 0.998 D 0.973 D 0.014 N 1.000 D 1.795 L 3.25 T -1.219 T 0.010 T 0.199 1.553 11.15 4.17 2.009 2.591 9.376 1.55313 1.55313 0 0.022379 0.0309 NA 0.014 NA 16.2559544 110 19 44223113 44223113 G A exonic IRGC NA nonsynonymous SNV IRGC:NM_019612:exon2:c.G403A:p.D135N exonic ENSG00000124449 NA nonsynonymous SNV ENSG00000124449:ENST00000244314:exon2:c.G403A:p.D135N,ENSG00000124449:ENST00000596627:exon2:c.G514A:p.D172N Score=389;Name=lod=51 NA 19q13.31 NA NA NA NA rs11555891 0.05 0.05 0.043 0.0509185 0.0249 0.1379 0.0202 0.0106 0.0644 0.02 0.13 0.01 0.01 0.0429 0.13 0.01 D 0.985 D 0.911 D 0.000 D 0.001 P 2.15 M 0.85 T -1.000 T 0.004 T 0.066 4.713 26.2 4.67 2.709 5.623 13.029 4.713096 4.713096 0 0.018967 0.012035 NA 0.072 NA 16.2465664 111 12 122622795 122622795 A G exonic MLXIP NA nonsynonymous SNV MLXIP:NM_014938:exon13:c.A2209G:p.M737V exonic ENSG00000175727 NA nonsynonymous SNV ENSG00000175727:ENST00000366272:exon4:c.A622G:p.M208V,ENSG00000175727:ENST00000538698:exon5:c.A1030G:p.M344V,ENSG00000175727:ENST00000319080:exon13:c.A2209G:p.M737V Score=591;Name=lod=337 NA 12q24.31 NA NA Name=4 NA rs74580294 0.02 0.02 0.011 0.00898562 0.0348 NA 0.0086 NA 0.0041 0.04 NA 0.01 NA 0.0286 0.042 0.71 T 0.013 B 0.03 B 0.000 D 1.000 D . . -4.54 D 0.152 D 0.497 T 0.197 2.652 14.83 5.15 1.945 3.923 13.546 2.6524 2.6524 0.93 0.041569 0.008506 NA 0.014 NA 16.2283644 111 1 226125385 226125385 G A exonic LEFTY2 NA nonsynonymous SNV LEFTY2:NM_003240:exon4:c.C857T:p.P286L,LEFTY2:NM_001172425:exon5:c.C755T:p.P252L exonic ENSG00000143768 NA nonsynonymous SNV ENSG00000143768:ENST00000366820:exon4:c.C857T:p.P286L,ENSG00000143768:ENST00000420304:exon5:c.C755T:p.P252L Score=503;Name=lod=148 NA 1q42.12 Score=732;Name=V$HOX13_01 NA NA NA rs2295418 0.04 0.04 0.025 0.0511182 0.0308 0.1052 0.0504 0.0008 0.0849 0.04 0.09 0.04 0.002 0.0424 0.09 0 D 1.0 D 1.0 D 0.000 N 0.000 P 2.25 M -0.04 T -0.636 T 0.032 T 0.098 3.166 16.59 4.18 1.271 8.729 13.559 3.166005 3.166005 0.01 0.03407 0.01044 NA 0.007 NA 16.2260634 112 21 15524921 15524921 C T exonic LIPI NA nonsynonymous SNV LIPI:NM_198996:exon8:c.G1154A:p.G385E exonic ENSG00000188992 NA nonsynonymous SNV ENSG00000188992:ENST00000344577:exon8:c.G1154A:p.G385E,ENSG00000188992:ENST00000536861:exon8:c.G1091A:p.G364E Score=243;Name=lod=13 NA 21q11.2 NA NA NA NA rs74369337 0.09 0.09 0.08 0.0942492 0.0199 0.25 0.1297 0.0068 0.1033 0.02 0.25 0.12 0.01 0.0711 0.25 0.13 T 0.998 D 0.939 D 0.000 D 0.991 P 2.085 M -2.4 D -1.300 T 0.001 T 0.518 4.459 23.8 5.16 2.779 1.928 14.869 4.45891 4.45891 0 0.019435 0.007062 NA 0.036 NA 16.2228984 112 3 113737568 113737568 G A exonic KIAA1407 NA nonsynonymous SNV KIAA1407:NM_020817:exon8:c.C1120T:p.R374W exonic ENSG00000163617 NA nonsynonymous SNV ENSG00000163617:ENST00000491000:exon7:c.C1081T:p.R361W,ENSG00000163617:ENST00000295878:exon8:c.C1120T:p.R374W,ENSG00000163617:ENST00000545063:exon8:c.C613T:p.R205W Score=363;Name=lod=40 NA 3q13.31 NA NA NA NA rs17603649 0.02 0.02 0.015 0.0133786 0.0408 NA 0.0245 0.0023 0.0061 0.04 NA 0.03 NA 0.0295 0.042 0 D 1.0 D 0.977 D 0.005 N 1.000 D 2.175 M 0.9 T -0.574 T 0.129 T 0.462 3.906 19.86 4.83 2.726 2.287 15.597 3.905878 3.905878 0 0.042093 0.007263 NA 0.007 NA 16.2209404 112 1 25572984 25572984 T G exonic C1orf63 NA nonsynonymous SNV C1orf63:NM_020317:exon2:c.A471C:p.R157S exonic ENSG00000117616 NA nonsynonymous SNV ENSG00000117616:ENST00000243189:exon2:c.A471C:p.R157S,ENSG00000117616:ENST00000417642:exon2:c.A450C:p.R150S,ENSG00000117616:ENST00000431849:exon2:c.A471C:p.R157S,ENSG00000117616:ENST00000473314:exon2:c.A471C:p.R157S,ENSG00000117616:ENST00000568254:exon2:c.A471C:p.R157S NA NA 1p36.11 NA Name=ZNF263,Sin3Ak-20 Name=7 NA rs34484514 0.02 0.02 0.012 0.0153754 0.0427 NA 0.0072 NA 0.0297 0.04 NA 0.01 NA 0.0344 0.04 0 D 0.999 D 0.994 D 0.001 D 1.000 N 2.095 M 0.11 T -0.583 T 0.132 T 0.282 4.867 27.8 -4.75 -0.868 -1.805 13.205 4.867085 4.867085 0 0.039884 0.006128 NA NA NA 16.2163494 113 6 116950734 116950734 G A exonic RSPH4A NA nonsynonymous SNV RSPH4A:NM_001010892:exon4:c.G1667A:p.R556H exonic ENSG00000111834 NA nonsynonymous SNV ENSG00000111834:ENST00000368580:exon3:c.G926A:p.R309H,ENSG00000111834:ENST00000229554:exon4:c.G1667A:p.R556H Score=497;Name=lod=139 NA 6q22.1 Score=859;Name=V$S8_01 Name=PU.1 Name=4 NA rs6927567 0.21 0.21 0.242 0.204872 0.2157 0.2857 0.2089 0.1089 0.2372 0.22 0.29 0.2 0.11 0.2135 0.29 0.05 D 0.798 P 0.229 B 0.000 N 0.000 P 3.24 M 1.16 T -0.839 T 0.085 T 0.507 4.027 20.7 5.2 1.582 5.660 13.128 4.027171 4.027171 0 0.195233 0.120064 NA 0.217 NA 16.2089004 113 19 51850290 51850290 G A exonic ETFB NA nonsynonymous SNV ETFB:NM_001014763:exon4:c.C734T:p.T245M,ETFB:NM_001985:exon5:c.C461T:p.T154M exonic ENSG00000105379 NA nonsynonymous SNV ENSG00000105379:ENST00000354232:exon4:c.C734T:p.T245M,ENSG00000105379:ENST00000596253:exon4:c.C302T:p.T101M,ENSG00000105379:ENST00000309244:exon5:c.C461T:p.T154M Score=481;Name=lod=120 NA 19q13.41 Score=863;Name=V$SREBP1_01 Name=Pol2 NA NA rs1130426 0.46 0.46 0.448 0.419728 0.5686 0.2887 0.451 0.472 0.3088 0.56 0.29 0.49 0.49 0.498 0.56 0.03 D 0.999 D 0.835 P 0.003 N 0.023 P 1.745 L -1.68 D -0.891 T 0.000 T 0.199 4.229 22 5.2 2.573 3.682 11.654 4.229291 4.229291 0.03 0.558721 0.508852 NA 0.493 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079961.1;CLNDSDB=.;CLNDSDBID=. 16.2080124 114 12 93139348 93139348 A G exonic PLEKHG7 NA nonsynonymous SNV PLEKHG7:NM_001004330:exon5:c.A296G:p.D99G exonic ENSG00000187510 NA nonsynonymous SNV ENSG00000187510:ENST00000344636:exon5:c.A296G:p.D99G,ENSG00000187510:ENST00000549856:exon8:c.A296G:p.D99G Score=529;Name=lod=189 NA 12q22 NA NA NA NA rs17790310 0.02 0.02 0.018 0.0177716 0.0447 NA 0.0274 0.0023 0.0225 0.04 NA 0.04 0.0041 0.0327 0.059 0.35 T 1.0 D 0.993 D 0.000 D 1.000 D 2.215 M -0.08 T -0.752 T 0.078 T 0.276 4.215 21.9 5.21 2.087 8.162 15.038 4.215419 4.215419 0 0.058488 0.012256 NA 0.029 NA 16.1974454 114 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 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 116 2 209108317 209108317 C T exonic IDH1 NA nonsynonymous SNV IDH1:NM_005896:exon6:c.G532A:p.V178I exonic ENSG00000138413 NA nonsynonymous SNV ENSG00000138413:ENST00000345146:exon6:c.G532A:p.V178I,ENSG00000138413:ENST00000415913:exon6:c.G532A:p.V178I,ENSG00000138413:ENST00000446179:exon6:c.G532A:p.V178I Score=556;Name=lod=242 NA 2q34 Score=834;Name=V$RFX1_02 NA NA NA rs34218846 0.04 0.04 0.036 0.0493211 0.0477 0.0069 0.0447 0.0893 0.044 0.04 0.0035 0.04 0.08 0.05 0.081 0.13 T 0.992 D 0.984 D 0.000 D 1.000 D 1.705 L -1.08 T -0.586 T 0.083 T 0.21 3.968 20.3 5.52 2.762 6.126 19.797 3.968029 3.968029 0.08 0.05314 0.080799 ID=COSM97131;OCCURENCE=8(thyroid),1(large_intestine) 0.051 NA 16.1824934 117 2 98809432 98809432 T C exonic VWA3B NA nonsynonymous SNV VWA3B:NM_144992:exon11:c.T1538C:p.I513T exonic ENSG00000168658 NA nonsynonymous SNV ENSG00000168658:ENST00000451075:exon10:c.T1088C:p.I363T,ENSG00000168658:ENST00000433678:exon11:c.T1538C:p.I513T,ENSG00000168658:ENST00000435344:exon11:c.T1538C:p.I513T,ENSG00000168658:ENST00000477737:exon11:c.T1538C:p.I513T Score=361;Name=lod=39 NA 2q11.2 NA NA NA NA rs74735968 0.03 0.03 0.023 0.0167732 0.0666 NA 0.0115 NA 0.0092 0.08 NA 0.01 NA 0.0444 0.08 0 D 1.0 D 1.0 D 0.000 D 0.581 N 2.74 M 1.64 T -0.290 T 0.151 T 0.559 2.823 15.4 5.5 2.096 5.140 14.590 2.822694 2.822694 0 0.057332 0.014623 NA 0.022 NA 16.1650014 118 3 133475812 133475812 G A exonic TF NA nonsynonymous SNV TF:NM_001063:exon7:c.G829A:p.G277S exonic ENSG00000091513 NA nonsynonymous SNV ENSG00000091513:ENST00000485977:exon3:c.G194A:p.R65Q,ENSG00000091513:ENST00000264998:exon6:c.G448A:p.G150S,ENSG00000091513:ENST00000402696:exon7:c.G829A:p.G277S Score=333;Name=lod=30 Name=Alcohol consumption 3q22.1 NA NA NA NA rs1799899 0.04 0.04 0.03 0.0305511 0.0706 NA 0.0389 0.0015 0.0542 0.08 NA 0.05 0.01 0.0532 0.08 0.06 T 0.999 D 0.974 D 0.001 N 0.890 D 1.825 L 1.37 T -0.994 T 0.014 T 0.542 1.709 11.67 4.58 1.537 2.834 13.114 1.70919 1.70919 0.05 0.047558 0.009986 NA 0.022 CLINSIG=unknown;CLNDBN=Iron_deficiency_anemia;CLNREVSTAT=single;CLNACC=RCV000013457.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0162316:87522002 16.1619754 119 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 120 3 120500093 120500093 C T exonic GTF2E1 NA nonsynonymous SNV GTF2E1:NM_005513:exon5:c.C1096T:p.P366S exonic ENSG00000153767 NA nonsynonymous SNV ENSG00000153767:ENST00000283875:exon5:c.C1096T:p.P366S Score=522;Name=lod=177 NA 3q13.33 NA Name=PU.1,c-Fos,Egr-1,PAX5-N19,SP1,SRF,BATF,Oct-2,YY1_(C-20),PAX5-C20,MEF2A,Pol2-4H8,EBF1_(C-8),BCL11A,NFKB,IRF4_(M-17),c-Jun,ELF1_(SC-631),Pol2,POU2F2,TCF12,p300 Name=108 NA rs3732401 0.19 0.19 0.154 0.168131 0.0388 0.4851 0.3343 0.0091 0.0716 0.04 0.48 0.29 0.02 0.1132 0.48 0.76 T 0.845 P 0.503 P 0.000 D 0.000 P 2.2 M 0.9 T -0.942 T 0.000 T 0.147 2.786 15.28 5.12 2.665 7.001 13.469 2.786165 2.786165 0.4 0.038837 0.01566 NA 0.152 NA 16.1424964 121 8 67796120 67796120 C G exonic MCMDC2 NA nonsynonymous SNV MCMDC2:NM_001136160:exon9:c.C964G:p.L322V,MCMDC2:NM_001136161:exon9:c.C964G:p.L322V,MCMDC2:NM_173518:exon9:c.C964G:p.L322V exonic ENSG00000178460 NA nonsynonymous SNV ENSG00000178460:ENST00000541540:exon7:c.C775G:p.L259V,ENSG00000178460:ENST00000313616:exon9:c.C964G:p.L322V,ENSG00000178460:ENST00000396592:exon9:c.C964G:p.L322V,ENSG00000178460:ENST00000422365:exon9:c.C964G:p.L322V,ENSG00000178460:ENST00000492775:exon9:c.C964G:p.L322V Score=565;Name=lod=263 NA 8q13.1 Score=886;Name=V$CEBPA_01 NA NA NA rs17332410 0.03 0.03 0.039 0.0221645 0.0785 0.001 0.0259 0.0045 0.0072 0.07 0.0017 0.03 0.01 0.0495 0.076 0.53 T 0.946 P 0.705 P 0.000 D 0.999 D 2.005 M 1.12 T -1.152 T 0.011 T 0.557 3.56 18.15 4.68 2.785 1.131 11.620 3.560263 3.560263 0 0.075814 0.018838 NA 0.007 NA 16.1295194 122 6 30652781 30652781 C T exonic PPP1R18 NA nonsynonymous SNV PPP1R18:NM_133471:exon1:c.G1015A:p.G339R,PPP1R18:NM_001134870:exon2:c.G1015A:p.G339R exonic ENSG00000146112 NA nonsynonymous SNV ENSG00000146112:ENST00000274853:exon1:c.G1015A:p.G339R,ENSG00000146112:ENST00000399199:exon2:c.G1015A:p.G339R Score=428;Name=lod=73 NA 6p21.33 NA Name=Pol2,NFKB Name=85 NA rs9262143 0.04 0.04 0.037 0.019369 0.0795 NA 0.0202 0.0023 NA 0.09 NA 0.03 0.0041 0.0594 0.1 0.3 T 0.999 D 0.927 D 0.069 N 0.950 D 0.975 L 0.51 T -0.928 T 0.164 T 0.264 4.007 20.5 5.1 2.369 3.624 17.266 4.006971 4.006971 0.07 0.103649 0.018802 NA 0.094 NA 16.0907844 122 17 1943880 1943880 C G exonic DPH1 NA nonsynonymous SNV DPH1:NM_001383:exon9:c.C1003G:p.L335V exonic ENSG00000108963 NA nonsynonymous SNV ENSG00000108963:ENST00000570477:exon8:c.C763G:p.L255V,ENSG00000108963:ENST00000263083:exon9:c.C1003G:p.L335V Score=272;Name=lod=17 NA 17p13.3 NA NA Name=3 NA rs35394823 0.04 0.04 0.024 0.0451278 0.0765 0.001 0.0951 0.0061 0.0757 0.07 NA 0.08 0.01 0.0803 0.088 0.03 D 0.77 P 0.593 P 0.000 D 0.000 P 2.69 M 0.94 T -0.894 T 0.011 T 0.321 2.875 15.58 5.37 2.529 2.975 13.48 2.875311 2.875311 0.06 0.087946 0.019892 NA 0.058 NA 16.0885874 123 14 55448409 55448409 G C exonic WDHD1 NA nonsynonymous SNV WDHD1:NM_001008396:exon15:c.C1543G:p.P515A,WDHD1:NM_007086:exon16:c.C1912G:p.P638A exonic ENSG00000198554 NA nonsynonymous SNV ENSG00000198554:ENST00000359167:exon4:c.C466G:p.P156A,ENSG00000198554:ENST00000420358:exon15:c.C1543G:p.P515A,ENSG00000198554:ENST00000360586:exon16:c.C1912G:p.P638A,ENSG00000198554:ENST00000421192:exon16:c.C1543G:p.P515A Score=570;Name=lod=276 NA 14q22.2 Score=808;Name=V$FREAC3_01 NA NA NA rs61741224 0.05 0.05 0.035 0.028754 0.1113 NA 0.036 0.0023 0.0041 0.11 NA 0.04 NA 0.067 0.11 0.21 T 1.0 D 1.0 D 0.000 D 0.000 P 3.02 M 0.28 T -0.671 T 0.041 T 0.781 4.539 24.5 5.71 2.708 7.687 19.928 4.538803 4.538803 0 0.097326 0.018384 NA 0.014 NA 16.0577074 124 22 31535872 31535872 G C exonic PLA2G3 NA nonsynonymous SNV PLA2G3:NM_015715:exon1:c.C469G:p.L157V exonic ENSG00000100078 NA nonsynonymous SNV ENSG00000100078:ENST00000215885:exon1:c.C469G:p.L157V Score=432;Name=lod=76 NA 22q12.2 Score=770;Name=V$ROAZ_01 NA NA NA rs2074735 0.14 0.14 0.123 0.167332 0.0805 0.38 0.1239 0.0053 0.2873 0.09 0.36 0.11 0.0041 0.1256 0.36 0.06 T 0.999 D 0.984 D 0.000 D 0.000 P 2.72 M 1.52 T -1.015 T 0.000 T 0.311 4.248 22.1 4.16 1.184 2.777 10.882 4.247613 4.247613 0.03 0.073023 0.023604 NA 0.08 NA 16.0542104 125 12 98927830 98927830 C G exonic TMPO NA nonsynonymous SNV TMPO:NM_003276:exon4:c.C1795G:p.Q599E exonic ENSG00000120802 NA nonsynonymous SNV ENSG00000120802:ENST00000266732:exon4:c.C1795G:p.Q599E Score=500;Name=lod=143 NA 12q23.1 Score=813;Name=V$BACH1_01 Name=eGFP-JunD,CEBPB,CTCF,HNF4A,HNF4G_(SC-6558) Name=66 NA rs17459334 0.05 0.05 0.044 0.0589058 0.1093 0.001 0.0403 0.003 0.1554 0.11 NA 0.05 0.002 0.0875 0.11 0.14 T 0.919 P 0.45 P 0.054 N 0.000 P 0.695 N 0.24 T -1.063 T 0.004 T 0.218 2.464 14.2 5.96 2.832 2.147 15.922 2.463925 2.463925 0 0.096512 0.021562 NA 0.13 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000037747.1|RCV000125552.1;CLNDSDB=.|.;CLNDSDBID=.|. 16.0400214 126 2 242371101 242371101 C T exonic FARP2 NA nonsynonymous SNV FARP2:NM_014808:exon9:c.C779T:p.T260I exonic ENSG00000006607 NA nonsynonymous SNV ENSG00000006607:ENST00000264042:exon9:c.C779T:p.T260I,ENSG00000006607:ENST00000373287:exon9:c.C779T:p.T260I,ENSG00000006607:ENST00000545004:exon9:c.C779T:p.T260I Score=558;Name=lod=246 Name=Chronic lymphocytic leukemia 2q37.3 NA NA NA NA rs757978 0.08 0.08 0.093 0.0804712 0.0974 0.0238 0.0807 0.1082 0.0838 0.1 0.03 0.06 0.1 0.0931 0.11 0.28 T 1.0 D 1.0 D 0.000 D 0.000 P 1.575 L -2.22 D -0.625 T 0.057 T 0.49 4.076 21 4.79 2.382 5.828 18.256 4.075661 4.075661 0 0.111744 0.096686 NA 0.065 NA 16.0310894 126 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 126 10 81926702 81926702 G A exonic ANXA11 NA nonsynonymous SNV ANXA11:NM_001157:exon6:c.C688T:p.R230C,ANXA11:NM_145868:exon7:c.C688T:p.R230C,ANXA11:NM_145869:exon8:c.C688T:p.R230C exonic ENSG00000122359 NA nonsynonymous SNV ENSG00000122359:ENST00000265447:exon6:c.C688T:p.R230C,ENSG00000122359:ENST00000372231:exon6:c.C688T:p.R230C,ENSG00000122359:ENST00000360615:exon7:c.C688T:p.R230C,ENSG00000122359:ENST00000422982:exon7:c.C688T:p.R230C,ENSG00000122359:ENST00000438331:exon8:c.C688T:p.R230C,ENSG00000122359:ENST00000535999:exon8:c.C688T:p.R230C,ENSG00000122359:ENST00000537102:exon8:c.C589T:p.R197C Score=579;Name=lod=301 NA 10q22.3 Score=846;Name=V$OLF1_01 NA NA NA rs1049550 0.42 0.42 0.412 0.392173 0.4503 0.6429 0.4654 0.1551 0.3425 0.44 0.65 0.42 0.15 0.447 0.65 0.01 D 1.0 D 0.998 D 0.000 D 0.000 P 3.89 H 2.64 T -0.929 T 0.000 T 0.588 4.489 24.1 4.35 1.360 7.474 9.180 4.488911 4.488911 0 0.409419 0.202224 NA 0.283 NA 16.0266144 127 10 7622009 7622009 G A exonic ITIH5 NA nonsynonymous SNV ITIH5:NM_032817:exon5:c.C485T:p.A162V,ITIH5:NM_001001851:exon9:c.C1127T:p.A376V,ITIH5:NM_030569:exon9:c.C1127T:p.A376V exonic ENSG00000123243 NA nonsynonymous SNV ENSG00000123243:ENST00000298441:exon5:c.C485T:p.A162V,ENSG00000123243:ENST00000256861:exon9:c.C1127T:p.A376V,ENSG00000123243:ENST00000397145:exon9:c.C1127T:p.A376V,ENSG00000123243:ENST00000397146:exon9:c.C1127T:p.A376V,ENSG00000123243:ENST00000446830:exon9:c.C473T:p.A158V Score=502;Name=lod=146 NA 10p14 NA NA NA NA rs41298373 0.06 0.06 0.049 0.0593051 0.1113 0.004 0.1052 0.0144 0.091 0.1 0.01 0.11 0.01 0.1104 0.11 0 D 1.0 D 0.999 D 0.000 D 0.002 P . . -2.54 D -0.517 T 0.092 T 0.679 3.549 18.1 5.23 2.443 5.883 14.407 3.54907 3.54907 0.01 0.107907 0.023377 NA 0.058 NA 16.0037264 127 6 38821025 38821025 C T exonic DNAH8 NA stopgain DNAH8:NM_001206927:exon41:c.C5635T:p.Q1879X exonic ENSG00000124721 NA stopgain ENSG00000124721:ENST00000441566:exon37:c.C4984T:p.Q1662X,ENSG00000124721:ENST00000359357:exon39:c.C4984T:p.Q1662X,ENSG00000124721:ENST00000327475:exon40:c.C5599T:p.Q1867X,ENSG00000124721:ENST00000449981:exon41:c.C5635T:p.Q1879X Score=399;Name=lod=56 NA 6p21.2 NA Name=MafK_(ab50322) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01 D . . . . 0.009 N 1.000 A . . . . . . . . . 13.229 47 5.69 2.683 2.139 13.067 13.228716 13.228716 0.16 NA NA NA NA NA 16 127 3 100074068 100074068 C T exonic NIT2 NA stopgain NIT2:NM_020202:exon10:c.C787T:p.Q263X exonic ENSG00000114021 NA stopgain ENSG00000114021:ENST00000394140:exon10:c.C787T:p.Q263X Score=387;Name=lod=50 NA 3q12.2 NA Name=GATA-1 NA NA rs201668326 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA NA 0.0013 0.03 D . . . . 0.000 D 1.000 D . . . . . . . . . 4.526 24.4 5.78 2.733 6.800 20.012 4.525802 4.525802 0.06 NA NA NA NA NA 15.999 128 1 151011325 151011325 C T exonic BNIPL NA nonsynonymous SNV BNIPL:NM_001159642:exon4:c.C10T:p.R4C,BNIPL:NM_138278:exon4:c.C256T:p.R86C exonic ENSG00000163141 NA nonsynonymous SNV ENSG00000163141:ENST00000485855:exon1:c.C10T:p.R4C,ENSG00000163141:ENST00000392802:exon2:c.C10T:p.R4C,ENSG00000163141:ENST00000295294:exon4:c.C10T:p.R4C,ENSG00000163141:ENST00000368931:exon4:c.C256T:p.R86C Score=423;Name=lod=70 NA 1q21.3 Score=843;Name=V$EGR1_01 NA NA NA rs61751619 0.06 0.06 0.054 0.0473243 0.1352 NA 0.0648 0.003 0.0532 0.14 NA 0.07 NA 0.101 0.14 0 D 1.0 D 0.95 D 0.023 N 0.001 P 2.47 M 1.13 T -0.433 T 0.280 T 0.361 3.994 20.5 5.15 2.677 3.894 14.012 3.994232 3.994232 0 0.141977 0.03064 NA 0.116 NA 15.9551564 129 5 13737444 13737444 G A exonic DNAH5 NA nonsynonymous SNV DNAH5:NM_001369:exon66:c.C11372T:p.T3791I exonic ENSG00000039139 NA nonsynonymous SNV ENSG00000039139:ENST00000265104:exon66:c.C11372T:p.T3791I Score=462;Name=lod=101 NA 5p15.2 NA NA NA NA rs17263496 0.09 0.09 0.064 0.0656949 0.1521 0.0476 0.085 0.0204 0.0429 0.14 0.04 0.11 0.03 0.1012 0.14 0 D 0.994 D 0.987 D 0.000 D 0.000 P 3.02 M 0.56 T -0.928 T 0.006 T 0.346 4.779 26.9 5.44 2.573 7.951 19.267 4.77854 4.77854 0 0.126977 0.03064 NA 0.058 NA 15.9530564 130 20 31660543 31660543 C T exonic BPIFB3 NA nonsynonymous SNV BPIFB3:NM_182658:exon14:c.C1345T:p.P449S exonic ENSG00000186190 NA nonsynonymous SNV ENSG00000186190:ENST00000375494:exon14:c.C1345T:p.P449S Score=423;Name=lod=70 NA 20q11.21 NA NA NA NA rs378098 0.14 0.14 0.134 0.133986 0.1322 0.0476 0.0951 0.2784 0.0573 0.14 0.05 0.11 0.25 0.1209 0.25 0.01 D 1.0 D 0.999 D 0.000 D 0.003 P 2.71 M 2.97 T -1.091 T 0.000 T 0.473 2.711 15.03 4.64 2.389 3.272 12.849 2.711412 2.711412 0 0.146628 0.242851 NA 0.152 NA 15.9336054 130 14 57075920 57075920 G T exonic TMEM260 NA nonsynonymous SNV TMEM260:NM_017799:exon6:c.G733T:p.A245S exonic ENSG00000070269 NA nonsynonymous SNV ENSG00000070269:ENST00000261556:exon6:c.G733T:p.A245S,ENSG00000070269:ENST00000538838:exon6:c.G733T:p.A245S,ENSG00000070269:ENST00000539559:exon6:c.G733T:p.A245S,ENSG00000070269:ENST00000556422:exon6:c.G265T:p.A89S Score=389;Name=lod=51 NA 14q22.3 NA Name=KAP1 NA NA rs17776256 0.1 0.1 0.099 0.108826 0.1521 0.004 0.098 0.1324 0.1483 0.15 0.0017 0.12 0.12 0.1181 0.15 0.22 T 1.0 D 0.999 D 0.000 D 0.000 P 2.215 M 1.47 T -1.210 T 0.002 T 0.391 4.69 25.9 6.06 2.880 9.730 20.640 4.690097 4.690097 0.06 0.130349 0.124603 NA 0.152 NA 15.9327844 131 18 580623 580623 T C exonic CETN1 NA nonsynonymous SNV CETN1:NM_004066:exon1:c.T215C:p.M72T exonic ENSG00000177143 NA nonsynonymous SNV ENSG00000177143:ENST00000327228:exon1:c.T215C:p.M72T Score=535;Name=lod=199 NA 18p11.32 NA NA NA NA rs61734344 0.17 0.17 0.168 0.179712 0.1292 0.244 0.1239 0.2322 0.1339 0.13 0.18 0.12 0.26 0.1416 0.26 0 D 0.97 D 0.997 D 0.000 D 0.000 P 2.52 M 1.1 T -1.116 T 0.000 T 0.35 2.721 15.06 5.2 2.324 7.846 13.362 2.720817 2.720817 NA 0.145814 0.206537 NA 0.123 NA 15.9167194 132 12 21028208 21028208 G C exonic SLCO1B3 NA nonsynonymous SNV SLCO1B3:NM_019844:exon9:c.G767C:p.G256A exonic ENSG00000111700,ENSG00000257046 NA nonsynonymous SNV ENSG00000111700:ENST00000544370:exon3:c.G239C:p.G80A,ENSG00000257046:ENST00000540229:exon7:c.G767C:p.G256A,ENSG00000111700:ENST00000553473:exon7:c.G767C:p.G256A,ENSG00000111700:ENST00000261196:exon8:c.G767C:p.G256A,ENSG00000111700:ENST00000540853:exon8:c.G767C:p.G256A,ENSG00000111700:ENST00000381545:exon9:c.G767C:p.G256A Score=492;Name=lod=133 NA 12p12.2 NA NA NA NA rs60140950 0.08 0.08 0.066 0.0656949 0.169 0.003 0.1081 0.0076 0.0726 0.17 0.0017 0.11 0.0041 0.1132 0.17 0 D 0.998 D 0.99 D 0.000 D 0.000 P 3.4 M -1.43 T -0.893 T 0.008 T 0.495 2.781 15.26 3.92 2.034 7.370 13.854 2.781309 2.781309 0 0.156279 0.032456 NA 0.123 NA 15.8948544 132 5 34004707 34004707 C T exonic AMACR NA nonsynonymous SNV AMACR:NM_001167595:exon3:c.G524A:p.G175D,AMACR:NM_014324:exon3:c.G524A:p.G175D exonic ENSG00000242110 NA nonsynonymous SNV ENSG00000242110:ENST00000335606:exon3:c.G524A:p.G175D,ENSG00000242110:ENST00000382085:exon3:c.G524A:p.G175D,ENSG00000242110:ENST00000502637:exon3:c.G524A:p.G175D Score=574;Name=lod=286 NA 5p13.2 Score=778;Name=V$HTF_01 NA NA NA rs10941112 0.35 0.35 0.317 0.252596 0.504 0.3472 0.4006 0.0242 0.1002 0.51 0.35 0.44 0.03 0.4108 0.52 0.05 D 0.931 P 0.798 P 0.000 D 0.000 P 4.33 H -0.66 T -1.012 T 0.000 T 0.506 5.478 35 5.92 2.809 4.414 20.321 5.477865 5.477865 0.08 0.524884 0.109623 NA 0.362 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116321.2;CLNDSDB=.;CLNDSDBID=. 15.8936494 132 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 132 3 122354792 122354792 G A exonic PARP15 NA nonsynonymous SNV PARP15:NM_152615:exon8:c.G1180A:p.G394R,PARP15:NM_001113523:exon12:c.G1882A:p.G628R exonic ENSG00000173200 NA nonsynonymous SNV ENSG00000173200:ENST00000493645:exon7:c.G973A:p.G325R,ENSG00000173200:ENST00000310366:exon8:c.G1180A:p.G394R,ENSG00000173200:ENST00000483793:exon9:c.G1297A:p.G433R,ENSG00000173200:ENST00000464300:exon12:c.G1882A:p.G628R Score=284;Name=lod=19 NA 3q21.1 NA NA Name=49 NA rs12489170 0.23 0.23 0.226 0.221645 0.1322 0.4881 0.2478 0.0983 0.1871 0.13 0.49 0.23 0.1 0.1805 0.49 0.03 D 1.0 D 1.0 D . . 0.000 P 3.435 M 2.34 T -0.903 T 0.000 T 0.448 4.031 20.7 3.99 2.058 9.647 14.800 4.030508 4.030508 0 0.132326 0.115978 NA 0.123 NA 15.8883074 133 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 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 134 5 35965970 35965970 A C exonic UGT3A1 NA nonsynonymous SNV UGT3A1:NM_152404:exon4:c.T361G:p.C121G,UGT3A1:NM_001171873:exon5:c.T199G:p.C67G exonic ENSG00000145626 NA nonsynonymous SNV ENSG00000145626:ENST00000507113:exon3:c.T259G:p.C87G,ENSG00000145626:ENST00000274278:exon4:c.T361G:p.C121G,ENSG00000145626:ENST00000503189:exon4:c.T361G:p.C121G,ENSG00000145626:ENST00000333811:exon5:c.T199G:p.C67G Score=251;Name=lod=14 NA 5p13.2 NA NA NA NA rs3756669 0.18 0.18 0.173 0.212859 0.1392 0.3849 0.2233 0.0166 0.3691 0.14 0.35 0.18 0.02 0.1941 0.35 0 D 1.0 D 1.0 D 0.000 D 0.009 P 3.465 M -1.23 T -1.230 T 0.000 T 0.336 3.304 17.1 3.0 1.318 1.899 10.794 3.30397 3.30397 0 0.139781 0.035649 NA 0.159 NA 15.8602524 134 6 38951998 38951998 C T exonic DNAH8 NA nonsynonymous SNV DNAH8:NM_001206927:exon87:c.C12968T:p.T4323M exonic ENSG00000124721 NA nonsynonymous SNV ENSG00000124721:ENST00000441566:exon82:c.C12209T:p.T4070M,ENSG00000124721:ENST00000359357:exon85:c.C12317T:p.T4106M,ENSG00000124721:ENST00000327475:exon86:c.C12932T:p.T4311M Score=383;Name=lod=48 NA 6p21.2 NA NA NA NA rs1537232 0.18 0.18 0.162 0.171526 0.167 0.3462 0.1182 0.0477 0.2014 0.18 0.34 0.11 0.05 0.1596 0.34 0.01 D 1.0 D 0.996 D 0.000 D 0.000 P 3.405 M 2.96 T -0.850 T 0.116 T 0.419 3.96 20.3 6.02 2.865 5.884 20.541 3.959637 3.959637 0 0.147093 0.066954 NA 0.196 NA 15.8596404 135 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=USF-1,USF2,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 135 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 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 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 137 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 137 6 146351069 146351069 G A exonic GRM1 NA nonsynonymous SNV GRM1:NM_000838:exon2:c.G416A:p.R139Q,GRM1:NM_001114329:exon2:c.G416A:p.R139Q exonic ENSG00000152822 NA nonsynonymous SNV ENSG00000152822:ENST00000282753:exon1:c.G416A:p.R139Q,ENSG00000152822:ENST00000355289:exon1:c.G416A:p.R139Q,ENSG00000152822:ENST00000507907:exon1:c.G416A:p.R139Q,ENSG00000152822:ENST00000361719:exon2:c.G416A:p.R139Q,ENSG00000152822:ENST00000392299:exon2:c.G416A:p.R139Q,ENSG00000152822:ENST00000492807:exon2:c.G416A:p.R139Q Score=383;Name=lod=48 NA 6q24.3 NA Name=GATA-2 NA NA rs140910734 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003295 0.0001 0.29 T 0.91 P 0.221 B 0.000 D 1.000 D 0.79 N -1.63 D -0.560 T 0.260 T 0.343 3.967 20.3 5.69 2.679 7.690 19.801 3.967147 3.967147 0.1 0.000116 0 NA NA NA 15.8331844 137 9 112687354 112687354 C T exonic PALM2,PALM2-AKAP2 NA nonsynonymous SNV PALM2-AKAP2:NM_007203:exon5:c.C386T:p.T129M,PALM2:NM_053016:exon5:c.C386T:p.T129M,PALM2-AKAP2:NM_147150:exon5:c.C386T:p.T129M,PALM2:NM_001037293:exon6:c.C392T:p.T131M exonic ENSG00000157654,ENSG00000241978,ENSG00000243444 NA nonsynonymous SNV ENSG00000157654:ENST00000302798:exon5:c.C386T:p.T129M,ENSG00000243444:ENST00000314527:exon5:c.C386T:p.T129M,ENSG00000157654:ENST00000374530:exon5:c.C386T:p.T129M,ENSG00000157654:ENST00000413420:exon5:c.C386T:p.T129M,ENSG00000243444:ENST00000483909:exon5:c.C386T:p.T129M,ENSG00000243444:ENST00000497711:exon5:c.C344T:p.T115M,ENSG00000241978:ENST00000510514:exon5:c.C386T:p.T129M,ENSG00000241978:ENST00000555236:exon5:c.C386T:p.T129M,ENSG00000243444:ENST00000374531:exon6:c.C392T:p.T131M,ENSG00000243444:ENST00000448454:exon6:c.C392T:p.T131M Score=440;Name=lod=82 NA 9q31.3 Score=705;Name=V$HOX13_01 NA Name=2 NA rs150674445 NA NA NA 0.000599042 NA NA NA NA 0.0031 NA NA NA NA 0.0003 0.011 0 D 0.979 D 0.498 P 0.580 N 1.000 N 0.46 N 2.26 T -1.071 T 0.060 T 0.372 3.197 16.71 4.46 2.695 1.159 11.200 3.197353 3.197353 0.05 0.000465 0 ID=COSM283686,COSM283685;OCCURENCE=1(large_intestine) 0.007 NA 15.8325684 137 18 76873346 76873346 G A exonic ATP9B NA nonsynonymous SNV ATP9B:NM_198531:exon4:c.G550A:p.A184T exonic ENSG00000166377 NA nonsynonymous SNV ENSG00000166377:ENST00000586672:exon3:c.G376A:p.A126T,ENSG00000166377:ENST00000307671:exon4:c.G550A:p.A184T,ENSG00000166377:ENST00000426216:exon4:c.G550A:p.A184T,ENSG00000166377:ENST00000458297:exon4:c.G394A:p.A132T,ENSG00000166377:ENST00000586366:exon4:c.G550A:p.A184T,ENSG00000166377:ENST00000586722:exon4:c.G550A:p.A184T Score=704;Name=lod=968 NA 18q23 Score=961;Name=V$HOXA3_01 NA NA NA rs145161958 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0007 0.0028 0.01 D 0.696 P 0.373 B 0.000 N 1.000 D 1.965 M 0.09 T -0.140 T 0.422 T 0.557 4.301 22.5 4.99 1.489 7.168 14.729 4.300742 4.300742 0.01 0.000582 0.000908 NA NA NA 15.8320514 137 9 35675799 35675799 C A exonic CA9 NA nonsynonymous SNV CA9:NM_001216:exon3:c.C475A:p.R159S exonic ENSG00000107159 NA nonsynonymous SNV ENSG00000107159:ENST00000378357:exon3:c.C475A:p.R159S Score=371;Name=lod=43 NA 9p13.3 NA Name=YY1_(C-20),CTCF Name=35 NA rs184826298 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001 0.0012 0.23 T 0.964 D 0.766 P 0.106 N 1.000 D 0.4 N -0.2 T -0.738 T 0.191 T 0.645 1.951 12.48 4.05 1.306 1.635 9.196 1.95115 1.95115 0.23 0.001224 0.000256 NA NA NA 15.8311094 137 17 72916365 72916365 C T exonic USH1G NA nonsynonymous SNV USH1G:NM_173477:exon2:c.G566A:p.R189Q exonic ENSG00000182040 NA nonsynonymous SNV ENSG00000182040:ENST00000319642:exon2:c.G566A:p.R189Q Score=805;Name=lod=2484 NA 17q25.1 Score=855;Name=V$ZID_01 NA NA NA rs201644674 0.0005 0.0005 NA 0.000599042 0.001 NA NA 0.0008 0.001 0.0013 NA NA NA 0.0023 0.0019 0.59 T 0.897 P 0.162 B 0.000 D 0.571 D 1.59 L -0.51 T -0.768 T 0.164 T 0.177 0.209 5.125 2.82 0.950 1.821 5.725 0.208728 NA 0.4 0.001876 0.000228 NA NA CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041422.1;CLNDSDB=.;CLNDSDBID=. 15.8281574 137 15 74219582 74219582 G A exonic LOXL1 NA nonsynonymous SNV LOXL1:NM_005576:exon1:c.G458A:p.G153D exonic ENSG00000129038 NA nonsynonymous SNV ENSG00000129038:ENST00000261921:exon1:c.G458A:p.G153D,ENSG00000129038:ENST00000566011:exon1:c.G458A:p.G153D Score=614;Name=lod=419 Name=Glaucoma (exfoliation) 15q24.1 Score=929;Name=V$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 138 X 19379640 19379640 G C exonic MAP3K15 NA nonsynonymous SNV MAP3K15:NM_001001671:exon27:c.C3751G:p.Q1251E exonic ENSG00000180815 NA nonsynonymous SNV ENSG00000180815:ENST00000359173:exon24:c.C2056G:p.Q686E,ENSG00000180815:ENST00000469203:exon25:c.C3247G:p.Q1083E,ENSG00000180815:ENST00000338883:exon27:c.C3751G:p.Q1251E Score=329;Name=lod=29 NA Xp22.12 NA NA NA NA rs15943 0.0024 0.0024 0.0055 NA NA NA NA NA NA 0.01 NA NA NA 0.0036 0.01 0.38 T 0.928 P 0.433 B 0.000 U 1.000 D 2.34 M -2.29 D -0.029 T 0.520 D 0.248 2.595 14.64 5.04 1.235 5.569 13.958 2.595173 2.595173 0.27 0.007729 0.001304 NA NA NA 15.8220044 139 22 20043504 20043504 G A exonic TANGO2 NA nonsynonymous SNV TANGO2:NM_152906:exon6:c.G419A:p.R140Q exonic ENSG00000183597 NA nonsynonymous SNV ENSG00000183597:ENST00000420290:exon4:c.G125A:p.R42Q,ENSG00000183597:ENST00000444651:exon4:c.G304A:p.E102K,ENSG00000183597:ENST00000399807:exon5:c.G427A:p.E143K,ENSG00000183597:ENST00000430807:exon5:c.G304A:p.E102K,ENSG00000183597:ENST00000434570:exon5:c.G542A:p.R181Q,ENSG00000183597:ENST00000456048:exon5:c.G434A:p.R145Q,ENSG00000183597:ENST00000327374:exon6:c.G419A:p.R140Q,ENSG00000183597:ENST00000401833:exon6:c.G542A:p.R181Q,ENSG00000183597:ENST00000434168:exon6:c.G419A:p.R140Q,ENSG00000183597:ENST00000450664:exon6:c.G419A:p.R140Q,ENSG00000183597:ENST00000447208:exon7:c.G419A:p.R140Q Score=444;Name=lod=85 NA 22q11.21 Score=831;Name=V$RFX1_02 NA NA NA rs142442293 0.0032 0.0032 0.003 0.00199681 0.007 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.0069 0.01 0.2 T 0.86 P 0.243 B 0.000 D 1.000 D 2.795 M 1.93 T -1.001 T 0.057 T 0.649 3.377 17.39 4.52 2.499 2.511 12.943 3.377251 3.377251 0 0.007674 0.001816 NA NA NA 15.8117594 139 11 47640429 47640429 G C exonic MTCH2 NA nonsynonymous SNV MTCH2:NM_014342:exon13:c.C868G:p.P290A exonic ENSG00000109919 NA nonsynonymous SNV ENSG00000109919:ENST00000542981:exon12:c.C424G:p.P142A,ENSG00000109919:ENST00000302503:exon13:c.C868G:p.P290A Score=687;Name=lod=823 NA 11p11.2 Score=901;Name=V$HSF1_01 NA NA NA rs1064608 0.28 0.28 0.249 0.257388 0.3539 0.2768 0.4035 0.0454 0.3211 0.36 0.33 0.36 0.06 0.3187 0.36 0.02 D 0.98 D 0.881 P 0.000 D 0.000 P 1.98 M -0.55 T -1.259 T 0.000 T 0.388 4.119 21.2 5.13 2.387 6.708 15.526 4.119413 4.119413 0.05 0.351675 0.097001 ID=COSM147185;OCCURENCE=1(stomach) 0.319 NA 15.8090584 139 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 11 78449583 78449583 G A exonic TENM4 NA nonsynonymous SNV TENM4:NM_001098816:exon20:c.C2789T:p.T930I exonic ENSG00000149256 NA nonsynonymous SNV ENSG00000149256:ENST00000278550:exon20:c.C2789T:p.T930I Score=554;Name=lod=238 NA 11q14.1 Score=922;Name=V$CREBP1CJUN_01 NA NA NA rs76283314 0.0041 0.0041 0.004 0.00359425 0.0119 NA 0.0072 NA 0.001 0.01 NA 0.01 NA 0.0076 0.011 . . 0.651 P 0.198 B 0.000 D 1.000 D 2.81 M 2.53 T -1.063 T 0.044 T 0.35 4.119 21.2 5.08 2.793 9.601 19.033 4.119092 4.119092 0 0.011189 0.002025 NA NA NA 15.8026444 140 20 33872215 33872215 C A exonic EIF6 NA nonsynonymous SNV EIF6:NM_181468:exon1:c.G76T:p.V26L,EIF6:NM_001267810:exon2:c.G76T:p.V26L,EIF6:NM_002212:exon2:c.G76T:p.V26L,EIF6:NM_181466:exon2:c.G76T:p.V26L exonic ENSG00000242372 NA nonsynonymous SNV ENSG00000242372:ENST00000374436:exon1:c.G76T:p.V26L,ENSG00000242372:ENST00000440766:exon1:c.G76T:p.V26L,ENSG00000242372:ENST00000374443:exon2:c.G76T:p.V26L,ENSG00000242372:ENST00000374450:exon2:c.G76T:p.V26L,ENSG00000242372:ENST00000415116:exon2:c.G76T:p.V26L,ENSG00000242372:ENST00000447927:exon2:c.G76T:p.V26L,ENSG00000242372:ENST00000456600:exon2:c.G76T:p.V26L Score=616;Name=lod=427 NA 20q11.22 NA Name=AP-2gamma NA NA rs1802241 0.01 0.01 0.004 0.00359425 0.0149 NA 0.0029 0.0008 NA 0.01 NA 0.01 0.002 0.007 0.015 0.08 T 0.497 P 0.134 B 0.000 D 1.000 D 2.32 M . . -0.815 T 0.106 T 0.472 5.3 34 3.95 1.427 5.216 12.450 5.299778 5.299778 0 0.015144 0.003653 NA 0.007 NA 15.7962894 140 5 33951693 33951693 C G exonic SLC45A2 NA nonsynonymous SNV SLC45A2:NM_001012509:exon5:c.G1122C:p.L374F,SLC45A2:NM_016180:exon5:c.G1122C:p.L374F exonic ENSG00000164175 NA nonsynonymous SNV ENSG00000164175:ENST00000342059:exon4:c.G945C:p.L315F,ENSG00000164175:ENST00000510600:exon4:c.G597C:p.L199F,ENSG00000164175:ENST00000296589:exon5:c.G1122C:p.L374F,ENSG00000164175:ENST00000345083:exon5:c.G798C:p.L266F,ENSG00000164175:ENST00000382102:exon5:c.G1122C:p.L374F Score=467;Name=lod=105 Name=Eye color,Skin pigmentation,Hair color 5p13.2 Score=863;Name=V$MRF2_01 NA NA NA rs16891982 0.44 0.44 0.413 0.27496 0.9384 0.006 0.464 0.0356 0.0593 0.97 0.01 0.55 0.05 0.6403 0.97 0.09 T 0.995 D 0.97 D 0.000 D 0.000 P 2.885 M -1.61 D -0.961 T 0.000 T 0.712 4.143 21.4 4.32 0.917 1.486 13.001 4.142807 4.142807 0.01 0.959186 0.184748 NA 0.449 CLINSIG=pathogenic|other;CLNDBN=Skin/hair/eye_pigmentation\x2c_variation_in\x2c_5|Malignant_melanoma_of_skin;CLNREVSTAT=single|single;CLNACC=RCV000004763.2|RCV000022392.1;CLNDSDB=MedGen:OMIM|MedGen:OMIM:SNOMED_CT;CLNDSDBID=C2673584:227240|C0151779:155600:93655004 15.7954474 141 11 47464284 47464284 C T exonic RAPSN NA nonsynonymous SNV RAPSN:NM_005055:exon3:c.G614A:p.R205Q,RAPSN:NM_032645:exon3:c.G614A:p.R205Q exonic ENSG00000165917 NA nonsynonymous SNV ENSG00000165917:ENST00000298854:exon3:c.G614A:p.R205Q,ENSG00000165917:ENST00000352508:exon3:c.G614A:p.R205Q,ENSG00000165917:ENST00000529341:exon3:c.G614A:p.R205Q Score=630;Name=lod=484 NA 11p11.2 Score=868;Name=V$NF1_Q6 NA NA NA rs34625105 0.01 0.01 0.004 0.0107827 0.0119 NA 0.0504 0.0008 0.0061 0.01 NA 0.03 NA 0.0152 0.03 0.38 T 0.74 P 0.238 B 0.000 D 1.000 D 1.845 L 1.19 T 0.105 D 0.484 T 0.62 4.75 26.6 5.09 2.538 7.133 18.852 4.7503 4.7503 0.04 0.015472 0.004089 NA NA NA 15.7907614 141 11 44331509 44331509 C G exonic ALX4 NA nonsynonymous SNV ALX4:NM_021926:exon1:c.G104C:p.R35T exonic ENSG00000052850 NA nonsynonymous SNV ENSG00000052850:ENST00000329255:exon1:c.G104C:p.R35T Score=699;Name=lod=924 NA 11p11.2 Score=960;Name=V$NFKAPPAB_01 Name=ZNF263,SUZ12,Nrf1 Name=60 NA rs3824915 0.42 0.42 0.376 0.472644 0.4682 0.5079 0.3833 0.2443 0.8129 0.49 0.49 0.38 0.26 0.5914 0.49 0.01 D 0.437 B 0.115 B 0.000 D 0.000 P 1.04 L -4.01 D -1.149 T 0.000 T 0.277 4.901 28.2 4.61 2.108 5.269 17.476 4.901377 4.901377 0 0.48732 0.300909 NA 0.391 NA 15.7864134 142 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 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 143 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 144 9 124088908 124088908 C G exonic GSN NA nonsynonymous SNV GSN:NM_000177:exon12:c.C1688G:p.T563S,GSN:NM_001127662:exon12:c.C1535G:p.T512S,GSN:NM_001258029:exon12:c.C1586G:p.T529S,GSN:NM_001258030:exon12:c.C1559G:p.T520S,GSN:NM_198252:exon13:c.C1535G:p.T512S,GSN:NM_001127663:exon14:c.C1643G:p.T548S,GSN:NM_001127664:exon14:c.C1535G:p.T512S,GSN:NM_001127665:exon14:c.C1535G:p.T512S,GSN:NM_001127666:exon14:c.C1568G:p.T523S,GSN:NM_001127667:exon14:c.C1568G:p.T523S exonic ENSG00000148180 NA nonsynonymous SNV ENSG00000148180:ENST00000373807:exon8:c.C881G:p.T294S,ENSG00000148180:ENST00000373808:exon12:c.C1535G:p.T512S,ENSG00000148180:ENST00000373818:exon12:c.C1688G:p.T563S,ENSG00000148180:ENST00000545652:exon12:c.C1559G:p.T520S,ENSG00000148180:ENST00000341272:exon13:c.C1535G:p.T512S,ENSG00000148180:ENST00000394353:exon14:c.C1568G:p.T523S,ENSG00000148180:ENST00000412819:exon14:c.C1535G:p.T512S,ENSG00000148180:ENST00000436847:exon14:c.C1568G:p.T523S,ENSG00000148180:ENST00000449733:exon14:c.C1535G:p.T512S,ENSG00000148180:ENST00000373823:exon20:c.C1535G:p.T512S Score=572;Name=lod=282 NA 9q33.2 NA NA Name=103 NA rs77681311 0.02 0.02 0.024 0.023762 0.0308 NA 0.0202 0.0265 0.0399 0.03 NA 0.02 0.02 0.0342 0.032 0.16 T 0.471 P 0.227 B 0.000 D 1.000 D 2.85 M 1.89 T -1.095 T 0.034 T 0.334 3.033 16.12 4.22 1.119 2.987 9.532 3.032917 3.032917 0.01 0.031432 0.032031 NA 0.014 NA 15.7369014 145 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 146 9 107361129 107361129 C T exonic OR13C5 NA nonsynonymous SNV OR13C5:NM_001004482:exon1:c.G566A:p.C189Y exonic ENSG00000255800 NA nonsynonymous SNV ENSG00000255800:ENST00000374779:exon1:c.G566A:p.C189Y Score=265;Name=lod=16 NA 9q31.1 Score=885;Name=V$CP2_01 NA NA NA rs4117966 0.32 0.32 0.333 0.363419 0.1789 0.5645 0.2133 0.3994 0.4039 0.17 0.56 0.2 0.35 0.2652 0.56 0 D 1.0 D 1.0 D 0.001 U 0.073 P 3.935 H 7.26 T -1.052 T 0.000 T 0.147 3.767 19.12 4.17 2.169 2.706 14.052 3.766581 3.766581 0 0.193023 0.355651 NA 0.406 NA 15.6962104 147 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=GATA2_(CG2-96),TAL1_(SC-12984) 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 147 1 47834209 47834209 G T exonic CMPK1 NA nonsynonymous SNV CMPK1:NM_016308:exon2:c.G240T:p.Q80H exonic ENSG00000162368 NA nonsynonymous SNV ENSG00000162368:ENST00000371871:exon2:c.G240T:p.Q80H,ENSG00000162368:ENST00000371873:exon2:c.G240T:p.Q80H Score=685;Name=lod=813 NA 1p33 Score=847;Name=V$HAND1E47_01 NA NA NA rs35687416 0.06 0.06 0.038 0.0507188 0.0487 0.127 0.0951 0.0008 0.0102 0.05 0.11 0.08 NA 0.0445 0.11 0 D 0.866 P 0.279 B 0.000 D 0.000 P 2.15 M -1.08 T -0.750 T 0.013 T 0.094 3.037 16.13 4.35 1.209 2.251 10.187 3.037139 3.037139 0 0.048256 0.009759 ID=COSM146504;OCCURENCE=1(stomach) 0.007 NA 15.6918774 147 14 22038562 22038562 T C exonic OR10G3 NA nonsynonymous SNV OR10G3:NM_001005465:exon1:c.A314G:p.Y105C exonic ENSG00000169208 NA nonsynonymous SNV ENSG00000169208:ENST00000303532:exon1:c.A314G:p.Y105C Score=420;Name=lod=68 NA 14q11.2 NA NA NA NA rs45612332 0.02 0.02 0.024 0.0161741 0.0517 0.001 0.0187 0.0038 0.0102 0.05 0.0017 0.03 0.01 0.0373 0.057 0.05 D 0.996 D 0.827 P 0.000 D 0.586 D 1.2 L 4.95 T -0.908 T 0.001 T 0.327 3.004 16.02 4.57 1.816 2.287 10.616 3.00423 3.00423 0 0.057093 0.01271 NA 0.007 NA 15.6872404 148 22 30888527 30888527 C T exonic SEC14L4 NA nonsynonymous SNV SEC14L4:NM_001161368:exon8:c.G598A:p.V200M,SEC14L4:NM_174977:exon8:c.G598A:p.V200M exonic ENSG00000133488 NA nonsynonymous SNV ENSG00000133488:ENST00000255858:exon8:c.G598A:p.V200M,ENSG00000133488:ENST00000381982:exon8:c.G598A:p.V200M,ENSG00000133488:ENST00000392772:exon8:c.G436A:p.V146M,ENSG00000133488:ENST00000540456:exon9:c.G553A:p.V185M Score=569;Name=lod=275 NA 22q12.2 Score=831;Name=V$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 149 8 117783914 117783914 A C exonic UTP23 NA nonsynonymous SNV UTP23:NM_032334:exon3:c.A583C:p.K195Q exonic ENSG00000147679 NA nonsynonymous SNV ENSG00000147679:ENST00000309822:exon3:c.A583C:p.K195Q Score=415;Name=lod=65 NA 8q24.11 NA NA NA NA rs1133950 0.07 0.07 0.062 0.0742812 0.0606 NA 0.0519 0.1392 0.093 0.06 NA 0.07 0.15 0.0574 0.15 0.01 D 0.979 D 0.655 P 0.000 D 0.000 P 2.64 M 1.6 T -1.088 T 0.001 T 0.112 3.98 20.4 5.57 2.134 8.561 15.734 3.979594 3.979594 0.03 0.040465 0.106673 NA 0.116 NA 15.6748684 149 12 52284668 52284668 C A exonic ANKRD33 NA nonsynonymous SNV ANKRD33:NM_001130015:exon5:c.C563A:p.T188N,ANKRD33:NM_182608:exon5:c.C938A:p.T313N exonic ENSG00000167612 NA nonsynonymous SNV ENSG00000167612:ENST00000538991:exon4:c.C356A:p.T119N,ENSG00000167612:ENST00000301190:exon5:c.C938A:p.T313N,ENSG00000167612:ENST00000340970:exon5:c.C563A:p.T188N Score=510;Name=lod=158 NA 12q13.13 NA NA NA NA rs12368048 0.17 0.17 0.16 0.165136 0.2326 0.1677 0.1196 0.0885 0.229 0.25 0.17 0.14 0.09 0.2012 0.25 0.01 D 0.998 D 0.952 D 0.000 D 0.000 P 2.345 M 1.7 T -1.147 T 0.000 T 0.302 4.429 23.5 4.7 2.601 5.042 15.02 4.429357 4.429357 0 0.228023 0.096686 NA 0.196 NA 15.6715104 150 17 30692396 30692396 G T exonic ZNF207 NA nonsynonymous SNV ZNF207:NM_003457:exon7:c.G670T:p.A224S,ZNF207:NM_001032293:exon8:c.G718T:p.A240S,ZNF207:NM_001098507:exon8:c.G718T:p.A240S exonic ENSG00000010244 NA nonsynonymous SNV ENSG00000010244:ENST00000321233:exon7:c.G670T:p.A224S,ENSG00000010244:ENST00000341711:exon7:c.G421T:p.A141S,ENSG00000010244:ENST00000394670:exon8:c.G718T:p.A240S,ENSG00000010244:ENST00000394673:exon8:c.G718T:p.A240S,ENSG00000010244:ENST00000394679:exon8:c.G556T:p.A186S,ENSG00000010244:ENST00000577908:exon8:c.G718T:p.A240S,ENSG00000010244:ENST00000342555:exon9:c.G727T:p.A243S Score=588;Name=lod=328 NA 17q11.2 Score=885;Name=V$AP1_01 NA Name=4 NA rs3795244 0.05 0.05 0.048 0.0467252 0.0686 0.0466 0.0317 0.0113 0.0828 0.07 0.04 0.04 0.03 0.0562 0.087 0.41 T 0.748 P 0.303 B 0.000 D 1.000 D 1.59 L 0.85 T -1.133 T 0.014 T 0.246 3.764 19.11 5.87 2.784 4.767 20.212 3.763833 3.763833 0.09 0.061395 0.015207 NA 0.109 NA 15.6471384 150 15 76017452 76017452 C T exonic ODF3L1 NA nonsynonymous SNV ODF3L1:NM_175881:exon2:c.C122T:p.P41L exonic ENSG00000182950 NA nonsynonymous SNV ENSG00000182950:ENST00000332145:exon2:c.C122T:p.P41L Score=329;Name=lod=29 NA 15q24.2 NA NA NA NA rs55905564 0.17 0.17 0.152 0.138379 0.2386 0.1032 0.1628 0.1104 0.092 0.23 0.12 0.17 0.11 0.1984 0.25 0 D 1.0 D 1.0 D 0.000 D 0.000 P 3.15 M 0.03 T -1.135 T 0.000 T 0.334 3.265 16.95 5.28 2.479 4.735 14.396 3.264521 3.264521 0 0.250349 0.127447 NA 0.058 NA 15.6459844 151 18 61654463 61654463 A G exonic SERPINB8 NA nonsynonymous SNV SERPINB8:NM_001276490:exon6:c.A530G:p.H177R,SERPINB8:NM_002640:exon7:c.A1076G:p.H359R,SERPINB8:NM_198833:exon7:c.A1076G:p.H359R exonic ENSG00000166401 NA nonsynonymous SNV ENSG00000166401:ENST00000542677:exon6:c.A530G:p.H177R,ENSG00000166401:ENST00000353706:exon7:c.A1076G:p.H359R,ENSG00000166401:ENST00000397985:exon7:c.A1076G:p.H359R Score=295;Name=lod=21 NA 18q22.1 Score=862;Name=V$MRF2_01 NA NA NA rs3826616 0.55 0.55 0.505 0.548522 0.5427 0.5446 0.6744 0.3782 0.6994 0.57 0.56 0.64 0.44 0.5834 0.64 0 D 0.998 D 0.98 D 0.000 D 0.000 P 2.97 M 2.72 T -0.890 T 0.000 T 0.568 3.237 16.85 5.65 2.371 9.044 15.210 3.236928 3.236928 0 0.580116 0.425329 NA 0.551 NA 15.6271174 152 7 100371479 100371479 G C exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA nonsynonymous SNV ENSG00000146839:ENST00000538115:exon31:c.G5768C:p.R1923P,ENSG00000146839:ENST00000542585:exon31:c.G5768C:p.R1923P,ENSG00000146839:ENST00000546213:exon31:c.G1301C:p.R434P,ENSG00000146839:ENST00000546292:exon31:c.G5768C:p.R1923P Score=259;Name=lod=15 NA 7q22.1 NA NA NA NA rs71555302 NA NA NA 0.00938498 0.0288 NA 0.0086 NA 0.0123 NA NA NA NA 0.0261 0.011 0.03 D 0.998 D 0.939 D 0.034 N 0.996 N 1.795 L 2.47 T 0.076 D 0.759 D . 2.828 15.42 3.4 1.104 1.055 8.520 2.828383 2.828383 NA NA NA NA 0.007 NA 15.6117667 153 12 52981442 52981442 C A exonic KRT72 NA nonsynonymous SNV KRT72:NM_001146226:exon6:c.G1157T:p.R386L,KRT72:NM_001146225:exon7:c.G1283T:p.R428L,KRT72:NM_080747:exon7:c.G1283T:p.R428L exonic ENSG00000170486 NA nonsynonymous SNV ENSG00000170486:ENST00000354310:exon6:c.G1157T:p.R386L,ENSG00000170486:ENST00000293745:exon7:c.G1283T:p.R428L,ENSG00000170486:ENST00000537672:exon7:c.G1283T:p.R428L,ENSG00000170486:ENST00000398066:exon8:c.G719T:p.R240L Score=586;Name=lod=320 NA 12q13.13 NA Name=CTCF_(SC-5916),CTCF NA NA rs11170183 0.15 0.15 0.14 0.178115 0.2416 0.0655 0.1527 0.0968 0.3569 0.26 0.07 0.14 0.11 0.2345 0.26 0 D 0.029 B 0.076 B 0.000 D 0.088 P 4.76 H -3.51 D -0.903 T 0.001 T 0.687 3.539 18.06 4.03 1.383 4.630 14.110 3.5392 3.5392 0.01 0.25593 0.138221 NA 0.138 NA 15.6013034 154 15 80263217 80263217 C T exonic BCL2A1 NA nonsynonymous SNV BCL2A1:NM_001114735:exon1:c.G245A:p.G82D,BCL2A1:NM_004049:exon1:c.G245A:p.G82D exonic ENSG00000140379 NA nonsynonymous SNV ENSG00000140379:ENST00000267953:exon1:c.G245A:p.G82D,ENSG00000140379:ENST00000335661:exon1:c.G245A:p.G82D Score=391;Name=lod=52 NA 15q25.1 NA Name=Pol2-4H8 NA NA rs3826007 0.19 0.19 0.191 0.203474 0.2545 0.2063 0.1599 0.0703 0.3589 0.25 0.22 0.19 0.06 0.2344 0.25 0.01 D 1.0 D 1.0 D 0.212 N 0.000 P 2.875 M 0.58 T -0.962 T 0.000 T 0.312 3.063 16.22 5.63 2.652 4.115 17.890 3.062546 3.062546 0.04 0.254186 0.092147 NA 0.203 NA 15.5902474 155 1 220331205 220331205 C G exonic RAB3GAP2 NA nonsynonymous SNV RAB3GAP2:NM_012414:exon30:c.G3275C:p.S1092T exonic ENSG00000118873 NA nonsynonymous SNV ENSG00000118873:ENST00000358951:exon30:c.G3275C:p.S1092T Score=480;Name=lod=119 NA 1q41 NA NA Name=18 NA rs2289189 0.06 0.06 0.041 0.0603035 0.0885 0.0486 0.0519 0.0076 0.1207 0.09 0.06 0.07 0.01 0.0895 0.094 0.17 T 0.989 D 0.856 P 0.000 D 0.000 P 1.75 L 1.13 T -1.156 T 0.012 T 0.189 5.018 29.6 5.59 2.642 7.430 19.589 5.018157 5.018157 0.49 0.093605 0.021562 NA 0.058 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000118106.2|RCV000127677.1;CLNDSDB=.|.;CLNDSDBID=.|. 15.5617284 155 5 178409927 178409927 G A exonic GRM6 NA nonsynonymous SNV GRM6:NM_000843:exon9:c.C2420T:p.A807V exonic ENSG00000113262 NA nonsynonymous SNV ENSG00000113262:ENST00000231188:exon9:c.C2420T:p.A807V,ENSG00000113262:ENST00000517717:exon10:c.C2420T:p.A807V Score=462;Name=lod=101 NA 5q35.3 Score=803;Name=V$CEBP_C NA NA NA rs17078874 0.05 0.05 0.052 0.0397364 0.1054 NA 0.0605 0.0144 0.0327 0.1 NA 0.07 0.02 0.0716 0.1 0.19 T 0.566 P 0.292 B . . 0.000 P 2.51 M -2.38 D -0.461 T 0.065 T 0.315 4.719 26.2 4.79 2.387 9.661 15.715 4.718944 4.718944 0 0.09686 0.024966 NA 0.036 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086049.2;CLNDSDB=.;CLNDSDBID=. 15.5594734 156 5 71739602 71739602 G C exonic ZNF366 NA nonsynonymous SNV ZNF366:NM_152625:exon5:c.C2216G:p.A739G exonic ENSG00000178175 NA nonsynonymous SNV ENSG00000178175:ENST00000318442:exon5:c.C2216G:p.A739G Score=616;Name=lod=426 NA 5q13.2 Score=822;Name=V$OCT1_04 NA NA NA rs13188519 0.06 0.06 0.06 0.072484 0.0964 0.0714 0.0389 0.0605 0.089 0.1 0.03 0.04 0.06 0.0932 0.11 0.04 D 0.546 P 0.141 B 0.001 D 0.539 D 0.895 L 2.89 T -1.089 T 0.001 T 0.093 3.216 16.77 5.87 2.941 4.660 16.112 3.215688 3.215688 0.02 0.107841 0.059186 NA 0.087 NA 15.5358924 157 17 79612633 79612633 T C exonic TSPAN10 NA unknown UNKNOWN exonic ENSG00000182612 NA nonsynonymous SNV ENSG00000182612:ENST00000328585:exon2:c.T652C:p.Y218H Score=445;Name=lod=86 NA 17q25.3 NA NA NA NA rs34379910 0.09 0.09 0.103 0.0848642 0.0437 0.2163 0.0331 0.0537 0.0706 0.04 0.21 0.04 0.08 0.0537 0.21 0.03 D 1.0 D 1.0 D 0.000 D 0.000 P 2.915 M -1.44 T -1.120 T 0.002 T 0.599 3.934 20.1 4.15 1.747 6.998 13.304 3.933772 3.933772 0.05 0.037658 0.038091 NA 0.072 NA 15.5316087 157 8 124658214 124658214 C T exonic KLHL38 NA nonsynonymous SNV KLHL38:NM_001081675:exon3:c.G1511A:p.C504Y exonic ENSG00000175946 NA nonsynonymous SNV ENSG00000175946:ENST00000325995:exon3:c.G1511A:p.C504Y Score=539;Name=lod=207 NA 8q24.13 NA NA NA NA rs11779866 0.05 0.05 0.043 0.0385383 0.1153 NA 0.0706 0.0053 0.0215 0.11 NA 0.07 0.01 0.0786 0.11 0.01 D 0.99 D 0.825 P 0.000 D 0.000 P 1.95 M -1.14 T -0.751 T 0.028 T 0.35 3.618 18.41 5.18 2.426 5.920 18.693 3.617684 3.617684 0 0.114276 0.019895 NA 0.029 NA 15.5251574 158 20 56138621 56138621 A G exonic PCK1 NA nonsynonymous SNV PCK1:NM_002591:exon6:c.A799G:p.I267V exonic ENSG00000124253 NA nonsynonymous SNV ENSG00000124253:ENST00000535860:exon4:c.A403G:p.I135V,ENSG00000124253:ENST00000319441:exon6:c.A799G:p.I267V Score=444;Name=lod=85 NA 20q13.31 NA NA NA NA rs8192708 0.07 0.07 0.063 0.0577077 0.1203 0.001 0.0922 0.0408 0.0501 0.12 NA 0.11 0.04 0.0926 0.13 0.02 D 0.992 D 0.882 P 0.000 D 0.000 P 3.215 M 3.29 T -1.131 T 0.001 T 0.267 2.929 15.76 5.43 2.072 8.832 15.496 2.929262 2.929262 0.02 0.126628 0.044258 NA 0.08 NA 15.4938054 158 11 5344681 5344681 G A exonic OR51B2 NA nonsynonymous SNV OR51B2:NM_033180:exon1:c.C847T:p.P283S exonic ENSG00000184881 NA nonsynonymous SNV ENSG00000184881:ENST00000328813:exon1:c.C847T:p.P283S Score=321;Name=lod=27 NA 11p15.4 Score=741;Name=V$HOX13_01 NA NA NA rs11036815 0.26 0.26 0.267 0.264776 0.2853 0.2173 0.2954 0.2897 0.2372 0.27 0.2 0.28 0.32 0.2721 0.32 0.01 D 1.0 D 1.0 D 0.002 U 0.000 P 3.015 M 8.08 T -0.721 T 0.000 T 0.342 4.162 21.5 4.38 2.306 2.460 15.860 4.162103 4.162103 0.01 0.287293 0.300545 NA 0.304 NA 15.4886404 159 1 247614896 247614896 A C exonic OR2B11 NA nonsynonymous SNV OR2B11:NM_001004492:exon1:c.T389G:p.I130S exonic ENSG00000177535 NA nonsynonymous SNV ENSG00000177535:ENST00000318749:exon1:c.T389G:p.I130S Score=510;Name=lod=158 NA 1q44 Score=911;Name=V$TAL1ALPHAE47_01 NA NA NA rs11583410 0.37 0.37 0.369 0.369609 0.4742 0.4474 0.3401 0.1165 0.545 0.46 0.49 0.33 0.12 0.4321 0.49 0 D 0.998 D 0.905 P 0.000 D 0.010 P 4.52 H 0.26 T -0.959 T 0.000 T 0.422 3.783 19.21 4.96 2.219 6.292 12.924 3.783249 3.783249 0 0.462093 0.165456 NA 0.442 NA 15.4649404 160 17 7761512 7761512 C A exonic CYB5D1 NA nonsynonymous SNV CYB5D1:NM_144607:exon1:c.C60A:p.F20L exonic ENSG00000182224 NA nonsynonymous SNV ENSG00000182224:ENST00000332439:exon1:c.C60A:p.F20L,ENSG00000182224:ENST00000570446:exon1:c.C60A:p.F20L,ENSG00000182224:ENST00000571846:exon1:c.C60A:p.F20L Score=412;Name=lod=63 NA 17p13.1 NA Name=GATA-1 Name=95 NA rs12453250 0.19 0.19 0.171 0.25639 0.0934 0.2728 0.2867 0.3472 0.2628 0.08 0.23 0.23 0.26 0.1741 0.3 0.03 D 0.964 D 0.665 P 0.000 D 0.000 P 1.205 L -1.57 D -1.111 T 0.000 T 0.227 3.641 18.52 1.28 0.139 1.582 9.384 3.640753 3.640753 0.02 0.111395 0.302315 NA 0.181 NA 15.4544384 160 17 4352636 4352636 G A exonic SPNS3 NA nonsynonymous SNV SPNS3:NM_182538:exon7:c.G877A:p.G293R exonic ENSG00000182557 NA nonsynonymous SNV ENSG00000182557:ENST00000333476:exon6:c.G496A:p.G166R,ENSG00000182557:ENST00000355530:exon7:c.G877A:p.G293R Score=272;Name=lod=17 NA 17p13.2 Score=799;Name=V$MYCMAX_03 NA NA NA rs34457931 0.09 0.09 0.073 0.0960463 0.1372 0.0694 0.1138 0.0159 0.1769 0.13 0.07 0.14 0.01 0.1226 0.14 0.23 T 0.987 D 0.629 P 0.000 D 0.188 P 2.155 M -0.58 T -0.966 T 0.004 T 0.268 2.573 14.56 2.94 1.253 3.821 5.894 2.572599 2.572599 0.05 0.122674 0.033818 NA 0.116 NA 15.4508594 160 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 160 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 161 17 56271094 56271094 G C exonic EPX NA nonsynonymous SNV EPX:NM_000502:exon4:c.G366C:p.Q122H exonic ENSG00000121053 NA nonsynonymous SNV ENSG00000121053:ENST00000225371:exon4:c.G366C:p.Q122H Score=410;Name=lod=62 NA 17q22 Score=920;Name=V$LMO2COM_01 NA NA NA rs11652709 0.21 0.21 0.218 0.213658 0.3091 0.0923 0.1873 0.2073 0.2679 0.32 0.08 0.19 0.22 0.2876 0.32 0.53 T 1.0 D 0.999 D 0.000 D 0.321 P 2.56 M -0.55 T -0.963 T 0.000 T 0.107 1.629 11.4 3.62 1.058 2.524 7.658 1.628503 1.628503 0.05 0.317558 0.242851 NA 0.116 NA 15.4190754 161 5 96124330 96124330 T C exonic ERAP1 NA nonsynonymous SNV ERAP1:NM_001040458:exon11:c.A1583G:p.K528R,ERAP1:NM_001198541:exon11:c.A1583G:p.K528R,ERAP1:NM_016442:exon11:c.A1583G:p.K528R exonic ENSG00000164307 NA nonsynonymous SNV ENSG00000164307:ENST00000296754:exon11:c.A1583G:p.K528R,ENSG00000164307:ENST00000443439:exon11:c.A1583G:p.K528R Score=497;Name=lod=139 Name=Ankylosing spondylitis 5q15 NA NA Name=62 NA rs30187 0.59 0.59 0.598 0.596246 0.6501 0.5466 0.5951 0.5976 0.591 0.66 0.51 0.58 0.58 0.6211 0.66 0.39 T 0.998 D 0.967 D 0.000 D 0.001 P 2.8 M 3.58 T -1.002 T 0.000 T 0.384 4.012 20.6 6.17 2.371 7.362 16.484 4.012271 4.012271 0.1 0.643372 0.596686 NA 0.522 NA 15.4187614 162 2 27260469 27260469 G A exonic TMEM214 NA nonsynonymous SNV TMEM214:NM_001083590:exon8:c.G916A:p.V306M,TMEM214:NM_017727:exon9:c.G1051A:p.V351M exonic ENSG00000119777 NA nonsynonymous SNV ENSG00000119777:ENST00000435172:exon7:c.G565A:p.V189M,ENSG00000119777:ENST00000404032:exon8:c.G916A:p.V306M,ENSG00000119777:ENST00000238788:exon9:c.G1051A:p.V351M,ENSG00000119777:ENST00000321326:exon9:c.G1051A:p.V351M Score=586;Name=lod=320 NA 2p23.3 Score=737;Name=V$MYOGNF1_01 NA NA NA rs1124649 0.28 0.28 0.256 0.303115 0.3091 0.0655 0.4006 0.4478 0.2771 0.29 0.06 0.39 0.42 0.3161 0.42 0.07 T 1.0 D 0.995 D 0.000 D 0.000 P 2.255 M 0.51 T -1.026 T 0.000 T 0.38 3.916 19.92 5.69 2.700 9.222 17.591 3.915582 3.915582 0.01 0.30649 0.41519 NA 0.268 NA 15.4016434 163 5 68695940 68695940 T G exonic RAD17 NA nonsynonymous SNV RAD17:NM_133339:exon14:c.T1670G:p.L557R,RAD17:NM_133340:exon14:c.T1142G:p.L381R,RAD17:NM_133341:exon14:c.T1379G:p.L460R,RAD17:NM_002873:exon15:c.T1637G:p.L546R,RAD17:NM_133344:exon15:c.T1637G:p.L546R,RAD17:NM_133342:exon16:c.T1637G:p.L546R,RAD17:NM_133343:exon16:c.T1637G:p.L546R,RAD17:NM_133338:exon17:c.T1637G:p.L546R exonic ENSG00000152942 NA nonsynonymous SNV ENSG00000152942:ENST00000513214:exon5:c.T494G:p.L165R,ENSG00000152942:ENST00000282891:exon14:c.T1379G:p.L460R,ENSG00000152942:ENST00000358030:exon14:c.T1142G:p.L381R,ENSG00000152942:ENST00000380774:exon14:c.T1670G:p.L557R,ENSG00000152942:ENST00000305138:exon15:c.T1637G:p.L546R,ENSG00000152942:ENST00000345306:exon15:c.T1637G:p.L546R,ENSG00000152942:ENST00000521422:exon15:c.T1142G:p.L381R,ENSG00000152942:ENST00000354312:exon16:c.T1637G:p.L546R,ENSG00000152942:ENST00000361732:exon16:c.T1637G:p.L546R,ENSG00000152942:ENST00000509734:exon16:c.T1670G:p.L557R,ENSG00000152942:ENST00000354868:exon17:c.T1637G:p.L546R Score=603;Name=lod=375 NA 5q13.2 NA NA NA NA rs1045051 0.26 0.26 0.207 0.254792 0.3231 0.3155 0.3012 0.0446 0.3732 0.31 0.34 0.27 0.06 0.2992 0.34 0 D 1.0 D 1.0 D 0.000 D 0.000 P 2.05 M 1.79 T -1.039 T 0.000 T 0.695 4.291 22.4 5.73 2.203 7.248 15.060 4.29121 4.29121 0 0.321744 0.083976 NA 0.225 NA 15.3892894 164 8 110413762 110413762 T C exonic PKHD1L1 NA nonsynonymous SNV PKHD1L1:NM_177531:exon14:c.T1318C:p.Y440H exonic ENSG00000205038 NA nonsynonymous SNV ENSG00000205038:ENST00000378402:exon14:c.T1318C:p.Y440H Score=576;Name=lod=291 NA 8q23.1 Score=768;Name=V$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 165 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 166 1 54272121 54272121 T C exonic TMEM48 NA nonsynonymous SNV TMEM48:NM_001168551:exon9:c.A841G:p.S281G,TMEM48:NM_018087:exon9:c.A961G:p.S321G exonic ENSG00000058804 NA nonsynonymous SNV ENSG00000058804:ENST00000234725:exon8:c.A616G:p.S206G,ENSG00000058804:ENST00000371429:exon9:c.A961G:p.S321G,ENSG00000058804:ENST00000540001:exon9:c.A961G:p.S321G Score=455;Name=lod=94 NA 1p32.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18 T 0.923 P 0.519 P 0.000 D 1.000 D 1.795 L 0.85 T -0.743 T 0.144 T 0.258 2.977 15.93 3.89 2.124 2.712 10.742 2.977191 2.977191 0.05 NA NA NA NA NA 15.3333334 166 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$FAC1_01 Name=KAP1 Name=134 NA rs2147326 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.5 0.5 1 T 0.763 P 0.311 B . . 1.000 D 1.7 L 2.72 T -1.113 T 0.015 T 0.327 0.892 8.625 5.53 2.100 3.061 13.604 0.89225 NA 1 NA NA NA 0.5 NA 15.3333334 166 17 19813277 19813277 G T exonic AKAP10 NA nonsynonymous SNV AKAP10:NM_007202:exon13:c.C1849A:p.Q617K exonic ENSG00000108599 NA nonsynonymous SNV ENSG00000108599:ENST00000583951:exon3:c.C160A:p.Q54K,ENSG00000108599:ENST00000395536:exon12:c.C1675A:p.Q559K,ENSG00000108599:ENST00000225737:exon13:c.C1849A:p.Q617K Score=567;Name=lod=270 NA 17p11.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.89 T 0.924 P 0.9 P 0.000 D 0.918 D 1.05 L 1.63 T -1.078 T 0.105 T 0.553 0.826 8.329 5.48 2.584 7.501 16.515 0.826017 NA 0.55 NA NA NA NA NA 15.3333334 166 6 31749884 31749884 G A exonic VARS NA nonsynonymous SNV VARS:NM_006295:exon18:c.C2221T:p.P741S exonic ENSG00000204394 NA nonsynonymous SNV ENSG00000204394:ENST00000375663:exon18:c.C2221T:p.P741S Score=336;Name=lod=31 NA 6p21.33 Score=875;Name=V$NFE2_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008315 NA 0.03 D 0.001 B 0.005 B 0.000 N 1.000 D 0.665 N 1.39 T -1.092 T 0.032 T 0.164 0.336 5.82 4.37 1.218 4.752 11.410 0.335583 NA 0.18 NA NA NA NA NA 15.3333251 166 1 40562894 40562894 C A exonic PPT1 NA nonsynonymous SNV PPT1:NM_000310:exon1:c.G17T:p.C6F,PPT1:NM_001142604:exon1:c.G17T:p.C6F exonic ENSG00000131238 NA nonsynonymous SNV ENSG00000131238:ENST00000372779:exon1:c.G17T:p.C6F,ENSG00000131238:ENST00000433473:exon1:c.G17T:p.C6F,ENSG00000131238:ENST00000449045:exon1:c.G17T:p.C6F,ENSG00000131238:ENST00000527107:exon1:c.G17T:p.C6F,ENSG00000131238:ENST00000527311:exon1:c.G17T:p.C6F,ENSG00000131238:ENST00000529905:exon1:c.G17T:p.C6F,ENSG00000131238:ENST00000530704:exon1:c.G17T:p.C6F NA NA 1p34.2 NA Name=Pol2(phosphoS2),USF-1,ZBTB33,YY1_(C-20),Max,USF2,Pol2,TCF4,CHD2_(N-1250),HA-E2F1,Nrf1,IRF1,c-Myc,USF1_(SC-8983),Oct-2,E2F4,FOSL1_(SC-183),Ini1,SETDB1,Sin3Ak-20,E2F6_(H-50),PAX5-C20,Mxi1_(bHLH),E2F6,STAT3,POU2F2,TBP,NFKB,HMGN3,TAF1,Pol2(b),Pol2-4H8,BRCA1_(C-1863),YY1,KAP1,HEY1,BCLAF1_(M33-P5B11),E2F1,ATF3 Name=134 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008381 NA 0.6 T 0.0 B 0.0 B 0.132 N 1.000 N 0.895 L -3.22 D -0.040 T 0.711 D 0.182 0.64 7.44 -8.87 -3.145 -2.446 10.315 0.640489 NA 0 NA NA NA NA NA 15.333325 166 15 91454691 91454691 C A exonic MAN2A2 NA nonsynonymous SNV MAN2A2:NM_006122:exon13:c.C2020A:p.R674S exonic ENSG00000196547 NA nonsynonymous SNV ENSG00000196547:ENST00000431652:exon6:c.C544A:p.R182S,ENSG00000196547:ENST00000557865:exon8:c.C949A:p.R317S,ENSG00000196547:ENST00000360468:exon13:c.C2020A:p.R674S,ENSG00000196547:ENST00000558161:exon14:c.C2020A:p.R674S,ENSG00000196547:ENST00000559717:exon14:c.C2020A:p.R674S,ENSG00000196547:ENST00000560451:exon14:c.C2020A:p.R674S Score=321;Name=lod=27 NA 15q26.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001649 NA 0.5 T 0.12 B 0.111 B 0.000 D 1.000 D 2.175 M -1.16 T -0.616 T 0.357 T 0.82 2.399 13.98 4.56 1.345 1.790 8.121 2.399094 2.399094 0.05 NA NA NA NA NA 15.3333169 166 15 22864369 22864369 G A exonic TUBGCP5 NA nonsynonymous SNV TUBGCP5:NM_001102610:exon16:c.G2327A:p.R776H,TUBGCP5:NM_052903:exon16:c.G2327A:p.R776H exonic ENSG00000153575 NA nonsynonymous SNV ENSG00000153575:ENST00000283645:exon16:c.G2327A:p.R776H,ENSG00000153575:ENST00000453949:exon16:c.G2327A:p.R776H Score=336;Name=lod=31 NA 15q11.2 Score=787;Name=V$CMYB_01 NA NA NA rs138440581 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0002 0.06 T 1.0 D 0.994 D 0.000 D 1.000 D 1.5 L 3.1 T -1.178 T 0.046 T 0.232 3.89 19.77 3.11 0.809 5.281 9.999 3.88977 3.88977 0.02 0.000233 0.000227 NA NA NA 15.3329004 166 20 18297336 18297336 G A exonic ZNF133 NA nonsynonymous SNV ZNF133:NM_001083330:exon4:c.G1838A:p.G613D,ZNF133:NM_003434:exon7:c.G1838A:p.G613D exonic ENSG00000125846 NA nonsynonymous SNV ENSG00000125846:ENST00000538547:exon2:c.G1556A:p.G519D,ENSG00000125846:ENST00000535822:exon3:c.G1556A:p.G519D,ENSG00000125846:ENST00000316358:exon4:c.G1841A:p.G614D,ENSG00000125846:ENST00000396026:exon5:c.G1850A:p.G617D,ENSG00000125846:ENST00000401790:exon5:c.G1841A:p.G614D,ENSG00000125846:ENST00000402618:exon5:c.G1652A:p.G551D,ENSG00000125846:ENST00000377671:exon7:c.G1838A:p.G613D Score=321;Name=lod=27 NA 20p11.23 NA NA NA NA rs374733106 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0003 0.05 D 0.997 D 0.969 D 0.014 N 0.991 D 1.005 L 2.24 T -1.126 T 0.075 T 0.471 2.414 14.03 4.35 2.722 2.439 15.176 2.414341 2.414341 0.01 0.000349 0 NA NA NA 15.3327844 166 1 16260606 16260606 G A exonic SPEN NA nonsynonymous SNV SPEN:NM_015001:exon11:c.G7871A:p.R2624Q exonic ENSG00000065526 NA nonsynonymous SNV ENSG00000065526:ENST00000375759:exon11:c.G7871A:p.R2624Q Score=550;Name=lod=229 NA 1p36.13 Score=966;Name=V$CETS1P54_01 NA NA NA rs200512596 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 0.0003 0.31 T 1.0 D 0.994 D . . 1.000 D 1.895 L 2.35 T -1.094 T 0.110 T 0.615 3.516 17.96 5.24 2.449 7.266 18.818 3.5161 3.5161 0.03 0.000349 0 NA NA NA 15.3326844 166 1 17297252 17297252 A C exonic CROCC NA nonsynonymous SNV CROCC:NM_014675:exon35:c.A5774C:p.Q1925P exonic ENSG00000058453 NA nonsynonymous SNV ENSG00000058453:ENST00000375541:exon35:c.A5774C:p.Q1925P Score=549;Name=lod=227 NA 1p36.13 NA NA NA NA rs140590876 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0006 0.13 T 0.999 D 0.99 D . . 0.947 D 2.25 M 2.72 T -1.024 T 0.092 T 0.566 3.476 17.79 4.6 1.847 2.253 12.282 3.475847 3.475847 0 0.000582 0 NA NA NA 15.3325514 166 14 21859687 21859687 G A exonic CHD8 NA nonsynonymous SNV CHD8:NM_001170629:exon35:c.C7000T:p.R2334W,CHD8:NM_020920:exon36:c.C6163T:p.R2055W exonic ENSG00000100888 NA nonsynonymous SNV ENSG00000100888:ENST00000399982:exon35:c.C7000T:p.R2334W,ENSG00000100888:ENST00000430710:exon36:c.C6163T:p.R2055W,ENSG00000100888:ENST00000557364:exon36:c.C7000T:p.R2334W Score=731;Name=lod=1248 NA 14q11.2 NA NA NA NA rs75084078 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.00001677 0.0013 0 D 1.0 D 0.965 D 0.001 N 1.000 D 1.385 L 0.8 T -0.668 T 0.241 T 0.805 4.046 20.8 5.42 2.819 3.077 18.153 4.046078 4.046078 0 NA NA NA NA NA 15.3323166 166 1 144931087 144931087 T C exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.A622G:p.T208A exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000313431:exon1:c.A622G:p.T208A,ENSG00000178104:ENST00000529945:exon1:c.A622G:p.T208A Score=612;Name=lod=408 NA 1q21.1 NA Name=KAP1,YY1_(C-20) Name=134 NA rs41315684 0.16 0.16 0.11 NA NA NA NA NA NA 0.24 0.12 0.23 0.02 0.2456 0.26 0.54 T 0.958 D 0.827 P . . 1.000 D 1.5 L 2.73 T -1.059 T 0.030 T 0.135 1.557 11.16 4.95 1.856 2.884 12.559 1.557414 1.557414 0.19 0.257326 0.08443 NA 0.159 NA 15.3304074 166 12 110034320 110034320 G A exonic MVK NA nonsynonymous SNV MVK:NM_000431:exon11:c.G1129A:p.V377I,MVK:NM_001114185:exon11:c.G1129A:p.V377I exonic ENSG00000110921 NA nonsynonymous SNV ENSG00000110921:ENST00000539696:exon5:c.G286A:p.V96I,ENSG00000110921:ENST00000541384:exon8:c.G547A:p.V183I,ENSG00000110921:ENST00000539575:exon9:c.G973A:p.V325I,ENSG00000110921:ENST00000392727:exon10:c.G973A:p.V325I,ENSG00000110921:ENST00000228510:exon11:c.G1129A:p.V377I Score=284;Name=lod=19 NA 12q24.11 NA NA NA NA rs28934897 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0014 0.0022 0.13 T 0.45 B 0.15 B 0.000 N 1.000 A 0.205 N -3.42 D 0.071 D 0.580 D 0.758 2.154 13.16 3.17 0.489 4.723 7.539 2.15397 2.15397 0.07 0.002209 0.000681 ID=COSM1239505;OCCURENCE=1(oesophagus) NA CLINSIG=pathogenic;CLNDBN=Hyperimmunoglobulin_D_with_periodic_fever;CLNREVSTAT=single;CLNACC=RCV000012705.14;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C0398691:260920:ORPHA343:234538002 15.3297244 166 20 43723573 43723573 C T exonic KCNS1 NA nonsynonymous SNV KCNS1:NM_002251:exon5:c.G1519A:p.G507R exonic ENSG00000124134 NA nonsynonymous SNV ENSG00000124134:ENST00000537075:exon4:c.G1519A:p.G507R,ENSG00000124134:ENST00000306117:exon5:c.G1519A:p.G507R Score=349;Name=lod=35 NA 20q13.12 NA NA NA NA rs142180542 NA NA NA 0.000399361 0.002 NA NA NA NA NA NA NA NA 0.0005 0.0012 0.44 T 0.242 B 0.144 B 0.197 N 0.999 D 0.55 N -4.02 D 0.378 D 0.762 D 0.543 3.18 16.64 5.67 2.677 1.601 16.938 3.180431 3.180431 0.14 0.001163 0 NA NA NA 15.3296704 166 12 2968090 2968090 G C exonic FOXM1 NA nonsynonymous SNV FOXM1:NM_001243088:exon8:c.C1961G:p.P654R,FOXM1:NM_001243089:exon8:c.C1958G:p.P653R,FOXM1:NM_202003:exon8:c.C1961G:p.P654R,FOXM1:NM_021953:exon9:c.C2006G:p.P669R,FOXM1:NM_202002:exon10:c.C2120G:p.P707R exonic ENSG00000111206 NA nonsynonymous SNV ENSG00000111206:ENST00000361953:exon8:c.C1961G:p.P654R,ENSG00000111206:ENST00000359843:exon9:c.C2006G:p.P669R,ENSG00000111206:ENST00000342628:exon10:c.C2120G:p.P707R Score=468;Name=lod=106 NA 12p13.33 NA Name=ZNF263,Pol2 NA NA rs28919869 0.01 0.01 0.01 0.0171725 NA NA 0.0058 0.059 0.0041 NA NA 0.01 0.06 0.0049 0.06 0.01 D 0.828 P 0.555 P 0.001 D 1.000 N 0.69 N -3.01 D -0.493 T 0.178 T 0.158 1.59 11.27 3.58 0.849 4.757 8.895 1.59031 1.59031 0.01 0.000233 0.047662 NA 0.036 NA 15.3282004 166 18 29412105 29412105 A C exonic TRAPPC8 NA nonsynonymous SNV TRAPPC8:NM_014939:exon28:c.T4015G:p.S1339A exonic ENSG00000153339 NA nonsynonymous SNV ENSG00000153339:ENST00000581057:exon2:c.T181G:p.S61A,ENSG00000153339:ENST00000283351:exon28:c.T4015G:p.S1339A,ENSG00000153339:ENST00000582539:exon28:c.T3853G:p.S1285A Score=621;Name=lod=445 NA 18q12.1 NA NA NA NA rs150996649 0.0014 0.0014 NA 0.000998403 0.003 NA 0.0014 NA 0.001 0.0026 NA 0.0028 NA 0.0012 0.0028 0.53 T 0.917 P 0.656 P 0.000 D 1.000 D 2.075 M 2.29 T -1.093 T 0.073 T 0.519 2.313 13.69 5.61 2.140 5.970 15.802 2.312728 2.312728 0.23 0.002094 0.000227 NA NA NA 15.3270394 166 2 242157241 242157241 G A exonic ANO7 NA nonsynonymous SNV ANO7:NM_001001891:exon20:c.G2275A:p.A759T exonic ENSG00000146205 NA nonsynonymous SNV ENSG00000146205:ENST00000274979:exon20:c.G2275A:p.A759T,ENSG00000146205:ENST00000402430:exon20:c.G2272A:p.A758T Score=598;Name=lod=360 NA 2q37.3 Score=862;Name=V$E2F_03 Name=Pol2,TCF12,E2F6,E2F6_(H-50),TAF1,ZEB1_(SC-25388),Pol2-4H8,HEY1,Sin3Ak-20,PAX5-C20 Name=130 NA rs76832527 0.12 0.12 0.084 0.110823 0.172 0.1131 0.1758 0.0174 0.1258 0.15 0.11 0.19 0.02 0.1625 0.19 0.05 D 0.759 P 0.272 B 0.001 N 0.000 P 1.625 L -0.25 T -1.011 T 0.001 T 0.272 4.334 22.8 2.84 1.305 8.276 13.564 4.333562 4.333562 0.06 0.172844 0.049222 NA 0.058 NA 15.3259894 166 10 127737958 127737958 T C exonic ADAM12 NA nonsynonymous SNV ADAM12:NM_003474:exon16:c.A1790G:p.N597S,ADAM12:NM_021641:exon16:c.A1790G:p.N597S exonic ENSG00000148848 NA nonsynonymous SNV ENSG00000148848:ENST00000368676:exon16:c.A1790G:p.N597S,ENSG00000148848:ENST00000368679:exon16:c.A1790G:p.N597S Score=474;Name=lod=113 NA 10q26.2 NA NA NA NA rs77297117 0.01 0.01 0.003 0.00239617 0.003 NA NA NA 0.0092 0.01 0.01 0.01 0.01 0.0021 0.01 0.14 T 1.0 D 0.999 D 0.000 D 1.000 D 1.67 L 2.01 T -1.081 T 0.086 T 0.149 4.768 26.8 5.2 2.180 7.868 15.233 4.768404 4.768404 0.08 0.002674 0.000227 NA NA NA 15.3255594 167 16 24815534 24815534 A G exonic TNRC6A NA nonsynonymous SNV TNRC6A:NM_014494:exon12:c.A3731G:p.H1244R exonic ENSG00000090905 NA nonsynonymous SNV ENSG00000090905:ENST00000450465:exon6:c.A710G:p.H237R,ENSG00000090905:ENST00000315183:exon12:c.A3731G:p.H1244R,ENSG00000090905:ENST00000395799:exon12:c.A3731G:p.H1244R Score=686;Name=lod=819 NA 16p12.1 Score=884;Name=V$CDP_02 NA NA NA rs146427035 0.0014 0.0014 NA 0.000399361 0.001 NA NA 0.0008 NA 0.0013 NA NA 0.0041 0.003 0.0066 1 T 0.915 P 0.477 P 0.000 D 1.000 D -0.695 N 3.56 T -0.867 T 0.006 T 0.645 0.52 6.817 6.08 2.333 2.926 12.491 0.519862 NA 1 0.006628 0.001593 NA NA NA 15.3227054 167 4 89625388 89625388 A T exonic HERC3 NA nonsynonymous SNV HERC3:NM_001271602:exon23:c.A2443T:p.M815L,HERC3:NM_014606:exon24:c.A2797T:p.M933L exonic ENSG00000138641 NA nonsynonymous SNV ENSG00000138641:ENST00000543130:exon12:c.A1129T:p.M377L,ENSG00000138641:ENST00000264345:exon22:c.A2797T:p.M933L,ENSG00000138641:ENST00000402738:exon24:c.A2797T:p.M933L Score=637;Name=lod=516 NA 4q22.1 NA NA NA NA rs61750820 0.0027 0.0027 0.002 0.00119808 0.005 NA NA 0.0008 NA 0.01 NA NA NA 0.002 0.01 1 T 0.997 D 0.99 D 0.000 D 1.000 D -0.11 N 0.98 T -1.037 T 0.075 T 0.855 3.685 18.72 5.26 2.207 9.139 15.353 3.684615 3.684615 0.02 0.004651 0.000681 NA NA NA 15.3216824 167 8 33318891 33318891 T C exonic FUT10 NA nonsynonymous SNV FUT10:NM_032664:exon2:c.A80G:p.Q27R exonic ENSG00000172728 NA nonsynonymous SNV ENSG00000172728:ENST00000327671:exon2:c.A80G:p.Q27R Score=389;Name=lod=51 NA 8p12 Score=845;Name=V$PAX3_01 NA NA NA rs144327642 0.0009 0.0009 NA 0.000998403 0.004 NA NA NA 0.001 0.0026 NA NA NA 0.0035 0.0047 0.34 T 0.782 P 0.475 P 0.002 N 1.000 D 2.075 M 1.9 T -1.047 T 0.114 T 0.778 4.09 21.1 5.79 2.236 4.627 12.575 4.090169 4.090169 0 0.004651 0.000908 NA NA NA 15.3211824 167 8 86049708 86049708 T C exonic LRRCC1 NA nonsynonymous SNV LRRCC1:NM_033402:exon15:c.T2339C:p.L780P exonic ENSG00000133739 NA nonsynonymous SNV ENSG00000133739:ENST00000414626:exon14:c.T2279C:p.L760P,ENSG00000133739:ENST00000360375:exon15:c.T2339C:p.L780P NA NA 8q21.2 NA NA Name=5 NA rs147274148 0.0018 0.0018 0.004 0.000998403 0.005 NA NA NA NA 0.01 NA NA NA 0.0038 0.011 0.01 D 0.999 D 0.958 D 0.138 N 1.000 D 1.67 L 0.75 T -0.738 T 0.184 T 0.795 2.06 12.84 4.72 1.022 7.036 12.345 2.060017 2.060017 0 0.005531 0.000551 NA 0.007 NA 15.3190024 168 1 155206037 155206037 G A exonic GBA NA nonsynonymous SNV GBA:NM_001171811:exon7:c.C962T:p.T321M,GBA:NM_001171812:exon7:c.C1076T:p.T359M,GBA:NM_000157:exon8:c.C1223T:p.T408M,GBA:NM_001005741:exon9:c.C1223T:p.T408M,GBA:NM_001005742:exon9:c.C1223T:p.T408M exonic ENSG00000177628 NA nonsynonymous SNV ENSG00000177628:ENST00000536770:exon6:c.C884T:p.T295M,ENSG00000177628:ENST00000427500:exon7:c.C1076T:p.T359M,ENSG00000177628:ENST00000428024:exon7:c.C962T:p.T321M,ENSG00000177628:ENST00000368373:exon8:c.C1223T:p.T408M,ENSG00000177628:ENST00000327247:exon9:c.C1223T:p.T408M Score=608;Name=lod=396 NA 1q22 NA NA NA NA rs75548401 0.0032 0.0032 0.002 0.00179712 0.006 NA 0.0029 NA 0.001 0.01 NA 0.01 NA 0.0066 0.01 0.12 T 0.275 B 0.113 B 0.006 N 0.596 N 1.5 L -5.71 D 0.902 D 0.879 D 0.773 1.628 11.4 3.57 1.973 1.878 10.786 1.628207 1.628207 0.08 0.007209 0.001135 NA NA CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000079335.1;CLNDSDB=.;CLNDSDBID=. 15.3135244 168 2 187702100 187702100 G T exonic ZSWIM2 NA nonsynonymous SNV ZSWIM2:NM_182521:exon5:c.C676A:p.L226M exonic ENSG00000163012 NA nonsynonymous SNV ENSG00000163012:ENST00000295131:exon5:c.C676A:p.L226M NA NA 2q32.1 NA NA NA NA rs112852209 0.0037 0.0037 0.002 0.00758786 0.007 NA 0.0101 NA 0.0245 0.01 NA 0.01 NA 0.0063 0.011 0.04 D 0.998 D 0.956 D 0.026 N 1.000 N 2.08 M -2.35 D -0.039 T 0.672 D 0.25 2.74 15.12 2.77 0.283 2.820 8.823 2.739708 2.739708 0.04 0.007442 0.000908 NA 0.007 NA 15.3125914 168 21 43161252 43161252 G A exonic RIPK4 NA nonsynonymous SNV RIPK4:NM_020639:exon8:c.C2101T:p.P701S exonic ENSG00000183421 NA nonsynonymous SNV ENSG00000183421:ENST00000332512:exon8:c.C2101T:p.P701S,ENSG00000183421:ENST00000542057:exon8:c.C1912T:p.P638S,ENSG00000183421:ENST00000544709:exon8:c.C1912T:p.P638S,ENSG00000183421:ENST00000352483:exon9:c.C2245T:p.P749S Score=309;Name=lod=24 NA 21q22.3 NA NA NA NA rs35537517 0.0032 0.0032 NA 0.00279553 0.005 NA 0.0058 NA 0.0051 0.004 NA 0.01 NA 0.0057 0.01 0.7 T 1.0 D 0.998 D 0.000 D 0.890 D -0.625 N 2.48 T -0.975 T 0.021 T 0.149 0.644 7.458 4.61 2.116 5.937 11.722 0.644084 NA 0.14 0.010119 0.000908 NA NA NA 15.3125144 168 3 131100956 131100956 C G exonic NUDT16 NA nonsynonymous SNV NUDT16:NM_001171905:exon2:c.C67G:p.L23V,NUDT16:NM_001171906:exon2:c.C205G:p.L69V,NUDT16:NM_152395:exon2:c.C205G:p.L69V exonic ENSG00000198585 NA nonsynonymous SNV ENSG00000198585:ENST00000359850:exon2:c.C106G:p.L36V,ENSG00000198585:ENST00000502852:exon2:c.C205G:p.L69V,ENSG00000198585:ENST00000521288:exon2:c.C205G:p.L69V,ENSG00000198585:ENST00000537561:exon2:c.C67G:p.L23V Score=501;Name=lod=145 NA 3q22.1 NA Name=E2F6_(H-50),CTCF,E2F6,c-Myc Name=11 NA rs150437674 0.01 0.01 NA 0.00359425 0.008 NA 0.0086 0.0008 0.0031 0.01 NA 0.01 NA 0.0077 0.011 0.01 D 1.0 D 0.997 D 0.001 N 0.998 D 1.225 L 3.12 T -1.124 T 0.058 T 0.132 3.781 19.2 1.8 0.341 1.763 7.342 3.781117 3.781117 0.01 0.010584 0.002272 NA 0.007 NA 15.3070494 169 2 219561254 219561254 G A exonic STK36 NA nonsynonymous SNV STK36:NM_015690:exon22:c.G2516A:p.R839Q exonic ENSG00000163482 NA nonsynonymous SNV ENSG00000163482:ENST00000295709:exon22:c.G2516A:p.R839Q,ENSG00000163482:ENST00000440309:exon22:c.G2516A:p.R839Q Score=374;Name=lod=44 NA 2q35 Score=884;Name=V$AP1_01 NA NA NA rs13023540 0.01 0.01 0.003 0.00499201 0.0129 0.001 0.0058 NA 0.0072 0.01 0.0017 0.01 NA 0.008 0.01 0.23 T 0.964 D 0.289 B 0.001 D 1.000 D 0.55 N -0.46 T -0.971 T 0.103 T 0.284 3.399 17.47 4.55 1.527 2.720 9.378 3.398669 3.398669 0.14 0.009884 0.000454 NA NA NA 15.3025494 169 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 169 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 169 6 29627222 29627222 C A exonic MOG NA nonsynonymous SNV MOG:NM_001008228:exon2:c.C215A:p.P72H,MOG:NM_001008229:exon2:c.C215A:p.P72H,MOG:NM_002433:exon2:c.C215A:p.P72H,MOG:NM_206809:exon2:c.C215A:p.P72H,MOG:NM_206810:exon2:c.C215A:p.P72H,MOG:NM_206811:exon2:c.C215A:p.P72H,MOG:NM_206812:exon2:c.C215A:p.P72H exonic ENSG00000204655 NA nonsynonymous SNV ENSG00000204655:ENST00000376891:exon2:c.C215A:p.P72H,ENSG00000204655:ENST00000376894:exon2:c.C215A:p.P72H,ENSG00000204655:ENST00000376898:exon2:c.C215A:p.P72H,ENSG00000204655:ENST00000376902:exon2:c.C215A:p.P72H,ENSG00000204655:ENST00000376917:exon2:c.C215A:p.P72H,ENSG00000204655:ENST00000396701:exon2:c.C215A:p.P72H,ENSG00000204655:ENST00000396704:exon2:c.C215A:p.P72H,ENSG00000204655:ENST00000416766:exon2:c.C215A:p.P72H,ENSG00000204655:ENST00000431798:exon2:c.C215A:p.P72H,ENSG00000204655:ENST00000494692:exon2:c.C215A:p.P72H,ENSG00000204655:ENST00000533330:exon2:c.C215A:p.P72H Score=329;Name=lod=29 NA 6p22.1 NA NA NA NA rs138169338 0.01 0.01 NA 0.0163738 0.007 0.002 0.0418 NA 0.045 0.01 0.0035 0.04 NA 0.022 0.04 0.21 T 1.0 D 1.0 D 0.000 D 1.000 D -0.04 N 1.67 T -1.001 T 0.054 T 0.627 3.644 18.53 4.84 1.394 3.932 14.495 3.644117 3.644117 0 0.00849 0.003309 ID=COSM228993;OCCURENCE=1(skin) NA NA 15.2958434 170 18 29782953 29782953 A G exonic MEP1B NA nonsynonymous SNV MEP1B:NM_005925:exon6:c.A348G:p.I116M exonic ENSG00000141434 NA nonsynonymous SNV ENSG00000141434:ENST00000269202:exon6:c.A348G:p.I116M,ENSG00000141434:ENST00000581184:exon6:c.A252G:p.I84M,ENSG00000141434:ENST00000581447:exon6:c.A348G:p.I116M Score=515;Name=lod=165 NA 18q12.1 NA NA NA NA rs71361372 0.01 0.01 0.005 0.0071885 0.0129 NA 0.0086 0.0015 0.0153 0.01 NA 0.01 NA 0.0155 0.017 0 D 1.0 D 0.995 D 0.000 D 1.000 D 3.26 M -0.51 T -0.120 T 0.368 T 0.65 3.685 18.72 1.22 0.376 1.052 8.245 3.684857 3.684857 0 0.017103 0.003421 NA NA NA 15.2878304 170 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 170 7 20762646 20762646 G T exonic ABCB5 NA nonsynonymous SNV ABCB5:NM_178559:exon12:c.G1094T:p.G365V,ABCB5:NM_001163941:exon21:c.G2429T:p.G810V exonic ENSG00000004846 NA nonsynonymous SNV ENSG00000004846:ENST00000258738:exon12:c.G1094T:p.G365V,ENSG00000004846:ENST00000404938:exon21:c.G2429T:p.G810V Score=409;Name=lod=61 NA 7p21.1 NA NA NA NA rs62453384 0.24 0.24 0.221 0.232228 0.3608 0.1855 0.1945 0.1142 0.3344 0.34 0.2 0.23 0.11 0.3049 0.38 0 D 1.0 D 0.994 D 0.010 N 0.000 P 3.195 M -2.75 D -1.525 T 0.000 T 0.424 3.371 17.37 3.84 1.318 3.961 12.634 3.371456 3.371456 0 0.380116 0.140944 NA 0.225 NA 15.2875174 170 1 59002282 59002282 A C exonic OMA1 NA nonsynonymous SNV OMA1:NM_145243:exon3:c.T632G:p.F211C exonic ENSG00000162600 NA nonsynonymous SNV ENSG00000162600:ENST00000358603:exon3:c.T632G:p.F211C,ENSG00000162600:ENST00000371226:exon3:c.T632G:p.F211C,ENSG00000162600:ENST00000419242:exon3:c.T632G:p.F211C,ENSG00000162600:ENST00000426139:exon3:c.T632G:p.F211C,ENSG00000162600:ENST00000456980:exon3:c.T632G:p.F211C Score=503;Name=lod=148 NA 1p32.1 NA NA NA NA rs17117699 0.04 0.04 0.042 0.0447284 0.0089 0.1359 0.0115 0.0083 0.0603 0.01 0.14 0.01 0.002 0.0262 0.14 0.01 D 0.999 D 0.936 D 0.000 D 0.000 P 1.7 L 2.3 T -1.105 T 0.003 T 0.476 4.055 20.8 5.49 2.310 5.570 15.778 4.055318 4.055318 0 0.012093 0.009759 NA 0.036 NA 15.2861404 171 11 123810492 123810492 A C exonic OR4D5 NA nonsynonymous SNV OR4D5:NM_001001965:exon1:c.A169C:p.T57P exonic ENSG00000171014 NA nonsynonymous SNV ENSG00000171014:ENST00000307033:exon1:c.A169C:p.T57P Score=471;Name=lod=109 NA 11q24.1 NA NA NA NA rs77776318 0.01 0.01 0.009 0.00698882 0.0219 NA 0.013 0.003 NA 0.02 NA 0.02 0.002 0.0141 0.021 0 D 0.997 D 0.964 D 0.000 D 0.948 N 3.25 M 7.73 T -1.068 T 0.002 T 0.33 3.042 16.15 4.08 1.988 0.743 10.773 3.041534 3.041534 0 0.0214 0.003179 NA 0.007 NA 15.2759334 172 14 104618742 104618742 C G exonic KIF26A NA nonsynonymous SNV KIF26A:NM_015656:exon3:c.C679G:p.L227V exonic ENSG00000066735 NA nonsynonymous SNV ENSG00000066735:ENST00000315264:exon2:c.C262G:p.L88V,ENSG00000066735:ENST00000423312:exon3:c.C679G:p.L227V Score=548;Name=lod=226 NA 14q32.33 Score=792;Name=V$OLF1_01 NA NA NA rs45472297 0.01 0.01 0.011 0.00878594 0.0199 0.001 0.0072 0.0008 0.0174 0.02 0.0035 0.01 0.01 0.0272 0.02 0.04 D 0.999 D 0.987 D . . 0.634 D 1.59 L -1.66 D -0.033 T 0.414 T 0.119 3.67 18.65 -0.024 -0.059 1.407 9.373 3.66995 3.66995 0.09 0.012647 0.003027 NA NA NA 15.2735864 172 2 165381542 165381542 C A exonic GRB14 NA nonsynonymous SNV GRB14:NM_004490:exon5:c.G650T:p.G217V exonic ENSG00000115290 NA nonsynonymous SNV ENSG00000115290:ENST00000543549:exon4:c.G389T:p.G130V,ENSG00000115290:ENST00000263915:exon5:c.G650T:p.G217V,ENSG00000115290:ENST00000446413:exon5:c.G515T:p.G172V Score=569;Name=lod=273 NA 2q24.3 NA NA NA NA rs34570870 0.01 0.01 0.009 0.00658946 0.0219 NA 0.0072 0.0015 0.0041 0.02 NA 0.01 NA 0.0158 0.023 0.02 D 0.399 B 0.266 B 0.000 D 1.000 D 2.125 M 1.91 T -1.052 T 0.062 T 0.359 3.569 18.19 6.01 2.850 4.611 16.938 3.569319 3.569319 0.01 0.022685 0.003406 NA NA NA 15.2729484 172 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=NFKB,BCL11A,BATF 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 173 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 173 2 189940142 189940142 T G exonic COL5A2 NA nonsynonymous SNV COL5A2:NM_000393:exon17:c.A1081C:p.M361L exonic ENSG00000204262 NA nonsynonymous SNV ENSG00000204262:ENST00000374866:exon17:c.A1081C:p.M361L Score=470;Name=lod=108 NA 2q32.2 Score=840;Name=V$STAT5B_01 NA NA NA rs76148000 0.01 0.01 0.01 0.00998403 0.0239 NA 0.0231 0.0008 0.0092 0.03 NA 0.03 0.002 0.0183 0.03 . . 0.0 B 0.0 B 0.000 D 0.525 D -0.825 N -3.34 D -0.419 T 0.225 T 0.095 1.791 11.95 5.17 2.079 2.269 10.621 1.790889 1.790889 0.38 0.028146 0.005674 NA 0.014 NA 15.2629874 173 5 127685135 127685135 C T exonic FBN2 NA nonsynonymous SNV FBN2:NM_001999:exon23:c.G2893A:p.V965I exonic ENSG00000138829 NA nonsynonymous SNV ENSG00000138829:ENST00000508989:exon22:c.G2794A:p.V932I,ENSG00000138829:ENST00000262464:exon23:c.G2893A:p.V965I,ENSG00000138829:ENST00000508053:exon29:c.G2893A:p.V965I Score=621;Name=lod=445 NA 5q23.3 Score=830;Name=V$ATF_01 Name=FOXA1_(C-20),STAT3,AP-2gamma Name=50 NA rs154001 0.73 0.73 0.724 0.73103 0.67 0.9167 0.7565 0.5991 0.7628 0.68 0.92 0.71 0.6 0.7234 0.92 0.34 T 0.118 B 0.073 B 0.000 D 0.000 P 0.335 N -3.01 D -0.947 T 0.000 T 0.356 2.187 13.27 3.32 1.365 3.884 13.229 2.186853 2.186853 0.3 0.679767 0.62778 NA 0.746 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117020.1|RCV000125040.1;CLNDSDB=.|.;CLNDSDBID=.|. 15.2601664 173 2 241468875 241468875 C T exonic ANKMY1 NA nonsynonymous SNV ANKMY1:NM_016552:exon4:c.G265A:p.D89N exonic ENSG00000144504 NA nonsynonymous SNV ENSG00000144504:ENST00000272972:exon4:c.G265A:p.D89N,ENSG00000144504:ENST00000418708:exon4:c.G265A:p.D89N,ENSG00000144504:ENST00000391987:exon5:c.G265A:p.D89N,ENSG00000144504:ENST00000401804:exon5:c.G532A:p.D178N Score=445;Name=lod=86 NA 2q37.3 NA NA NA NA rs35278753 0.01 0.01 0.014 0.00938498 0.0268 NA 0.0144 0.0015 0.0082 0.03 NA 0.02 0.002 0.0186 0.043 0.15 T 0.999 D 0.909 D 0.000 D 1.000 D 1.345 L 0.31 T -0.912 T 0.099 T 0.085 3.836 19.48 4.91 2.445 6.097 15.944 3.836396 3.836396 0.27 0.028256 0.004085 NA 0.029 NA 15.2596774 173 3 113115543 113115543 C G exonic WDR52 NA nonsynonymous SNV WDR52:NM_001164496:exon14:c.G1601C:p.G534A,WDR52:NM_018338:exon14:c.G1601C:p.G534A exonic ENSG00000206530 NA nonsynonymous SNV ENSG00000206530:ENST00000295868:exon14:c.G1601C:p.G534A,ENSG00000206530:ENST00000393845:exon14:c.G1601C:p.G534A Score=451;Name=lod=91 NA 3q13.2 NA NA NA NA rs77501585 0.01 0.01 0.007 0.00998403 0.0199 NA 0.0187 0.0023 0.0143 0.02 NA 0.03 NA 0.0238 0.031 0.07 T 1.0 D 0.999 D . . 1.000 D 2.11 M 3.07 T -0.268 T 0.286 T 0.595 4.615 25.2 5.49 2.746 6.521 19.330 4.614913 4.614913 0 0.031279 0.009079 NA NA NA 15.2583544 174 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 174 1 53712727 53712727 C T exonic LRP8 NA nonsynonymous SNV LRP8:NM_017522:exon16:c.G2066A:p.R689Q,LRP8:NM_033300:exon17:c.G2345A:p.R782Q,LRP8:NM_001018054:exon18:c.G2678A:p.R893Q,LRP8:NM_004631:exon19:c.G2855A:p.R952Q exonic ENSG00000157193 NA nonsynonymous SNV ENSG00000157193:ENST00000354412:exon16:c.G2066A:p.R689Q,ENSG00000157193:ENST00000465675:exon16:c.G1337A:p.R446Q,ENSG00000157193:ENST00000347547:exon17:c.G2345A:p.R782Q,ENSG00000157193:ENST00000371454:exon18:c.G2678A:p.R893Q,ENSG00000157193:ENST00000306052:exon19:c.G2855A:p.R952Q Score=617;Name=lod=431 NA 1p32.3 NA NA NA NA rs5174 0.18 0.18 0.181 0.144369 0.3956 0.0327 0.1772 0.0166 0.1503 0.39 0.03 0.19 0.03 0.2953 0.4 0.05 D 1.0 D 0.996 D . . 0.000 P 0.55 N -2.75 D -1.204 T 0.000 T 0.609 5.046 29.9 5.43 2.550 7.102 17.432 5.045892 5.045892 0.05 0.395465 0.082842 NA 0.297 CLINSIG=other;CLNDBN=Myocardial_infarction_1;CLNREVSTAT=single;CLNACC=RCV000007411.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1838021:608446 15.2469684 174 2 120129841 120129841 A G exonic DBI NA nonsynonymous SNV DBI:NM_001079862:exon4:c.A211G:p.M71V,DBI:NM_001079863:exon4:c.A214G:p.M72V,DBI:NM_001178017:exon4:c.A394G:p.M132V,DBI:NM_001178043:exon4:c.A241G:p.M81V,DBI:NM_001178041:exon5:c.A337G:p.M113V,DBI:NM_001178042:exon5:c.A262G:p.M88V,DBI:NM_020548:exon5:c.A262G:p.M88V exonic ENSG00000155368 NA nonsynonymous SNV ENSG00000155368:ENST00000355857:exon4:c.A211G:p.M71V,ENSG00000155368:ENST00000393103:exon4:c.A214G:p.M72V,ENSG00000155368:ENST00000542275:exon4:c.A394G:p.M132V,ENSG00000155368:ENST00000311521:exon5:c.A262G:p.M88V,ENSG00000155368:ENST00000409094:exon5:c.A262G:p.M88V,ENSG00000155368:ENST00000535617:exon5:c.A337G:p.M113V,ENSG00000155368:ENST00000535757:exon5:c.A262G:p.M88V Score=468;Name=lod=106 NA 2q14.2 NA NA NA NA rs8192506 0.01 0.01 0.013 0.00898562 0.0258 NA 0.0202 0.0008 0.0041 0.03 NA 0.02 0.002 0.025 0.036 0.03 D 0.108 B 0.093 B 0.000 D 1.000 D 4.135 H 1.79 T -0.957 T 0.038 T 0.253 2.678 14.92 4.39 1.110 3.428 8.181 2.678113 2.678113 0.04 0.036163 0.005447 NA 0.014 NA 15.2463704 175 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 176 8 130789767 130789767 G A exonic GSDMC NA nonsynonymous SNV GSDMC:NM_031415:exon2:c.C67T:p.P23S exonic ENSG00000147697 NA nonsynonymous SNV ENSG00000147697:ENST00000276708:exon2:c.C67T:p.P23S NA NA 8q24.21 NA NA NA NA rs10090835 0.02 0.02 0.02 0.0135783 0.0398 NA 0.0231 0.0053 0.0051 0.04 NA 0.02 0.01 0.0328 0.05 0.02 D 1.0 D 1.0 D 0.000 D 1.000 N 2.49 M 0.95 T -1.008 T 0.058 T 0.29 2.925 15.75 4.01 2.251 2.220 11.813 2.925135 2.925135 0 0.049767 0.008625 NA NA NA 15.2109664 176 3 183908982 183908982 C T exonic ABCF3 NA nonsynonymous SNV ABCF3:NM_018358:exon16:c.C1508T:p.P503L exonic ENSG00000161204 NA nonsynonymous SNV ENSG00000161204:ENST00000292808:exon16:c.C1490T:p.P497L,ENSG00000161204:ENST00000429586:exon16:c.C1508T:p.P503L Score=278;Name=lod=18 NA 3q27.1 NA NA NA NA rs11706273 0.03 0.03 0.024 0.0255591 0.0497 NA 0.0403 0.003 0.047 0.05 NA 0.05 0.0041 0.03 0.05 0.05 D 0.188 B 0.017 B 0.000 D 1.000 D 1.635 L -3.02 D -0.191 T 0.282 T 0.409 2.519 14.38 5.74 2.703 3.692 18.923 2.519024 2.519024 0.03 0.042907 0.009759 NA 0.029 NA 15.2107264 177 4 38987965 38987965 C T exonic TMEM156 NA nonsynonymous SNV TMEM156:NM_024943:exon5:c.G814A:p.V272I exonic ENSG00000121895 NA nonsynonymous SNV ENSG00000121895:ENST00000381938:exon5:c.G814A:p.V272I NA NA 4p14 NA Name=PU.1,NFKB,p300,FOXA1_(SC-101058),FOXA1_(C-20) Name=33 NA rs75988651 0.02 0.02 0.018 0.0151757 0.0477 NA 0.0216 0.0045 0.0072 0.05 NA 0.03 0.0041 0.0324 0.052 0.28 T 0.998 D 0.941 D 0.007 N 0.995 D 1.795 L 1.69 T -1.197 T 0.025 T 0.099 3.066 16.23 5.08 2.804 3.303 14.166 3.065636 3.065636 0.1 0.052209 0.007944 NA 0.029 NA 15.2010244 177 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$OCT1_06 Name=USF-1,Egr-1 Name=7 NA rs3815803 0.53 0.53 0.546 0.536941 0.5537 0.3929 0.3718 0.767 0.4744 0.56 0.37 0.41 0.73 0.5209 0.74 0.46 T 0.767 P 0.262 B 0.000 D 0.512 P 1.92 M 0.29 T -0.948 T 0.000 T 0.375 1.189 9.832 3.28 1.046 1.893 7.458 1.188593 NA 0.12 0.558256 0.742721 ID=COSM148088;OCCURENCE=1(stomach) 0.58 NA 15.2004774 177 12 6078424 6078424 A T exonic VWF NA nonsynonymous SNV VWF:NM_000552:exon45:c.T7682A:p.F2561Y exonic ENSG00000110799 NA nonsynonymous SNV ENSG00000110799:ENST00000261405:exon45:c.T7682A:p.F2561Y Score=399;Name=lod=56 NA 12p13.31 NA NA Name=3 NA rs35335161 0.03 0.03 0.017 0.0195687 0.0517 0.001 0.0346 0.0151 0.001 0.05 NA 0.03 0.01 0.0388 0.05 0.47 T 0.107 B 0.021 B 0.000 D 1.000 D 2.135 M 1.19 T -1.097 T 0.016 T 0.222 1.542 11.11 4.87 2.047 1.992 7.917 1.542155 1.542155 0.25 0.04593 0.023377 NA 0.022 NA 15.1969034 178 6 42196127 42196127 C T exonic TRERF1 NA nonsynonymous SNV TRERF1:NM_033502:exon18:c.G3559A:p.D1187N exonic ENSG00000124496 NA nonsynonymous SNV ENSG00000124496:ENST00000340840:exon16:c.G3346A:p.D1116N,ENSG00000124496:ENST00000354325:exon16:c.G3310A:p.D1104N,ENSG00000124496:ENST00000372917:exon17:c.G3346A:p.D1116N,ENSG00000124496:ENST00000372922:exon18:c.G3559A:p.D1187N,ENSG00000124496:ENST00000541110:exon18:c.G3619A:p.D1207N Score=455;Name=lod=94 NA 6p21.1 NA NA NA NA rs11751765 0.03 0.03 0.023 0.0173722 0.0547 NA 0.0403 0.0015 0.002 0.06 NA 0.03 NA 0.0376 0.06 0.21 T 0.999 D 0.964 D 0.000 D 0.998 D 0.805 L 2.55 T -1.096 T 0.041 T 0.078 4.252 22.2 4.9 1.454 3.793 15.028 4.252281 4.252281 0 0.051279 0.011121 NA 0.007 NA 15.1897544 178 17 46688135 46688135 G A exonic HOXB7 NA nonsynonymous SNV HOXB7:NM_004502:exon1:c.C146T:p.A49V exonic ENSG00000260027 NA nonsynonymous SNV ENSG00000260027:ENST00000239165:exon1:c.C146T:p.A49V Score=498;Name=lod=141 NA 17q21.32 Score=710;Name=V$P53_01 Name=E2F6_(H-50),Pol2,HA-E2F1,BAF170,YY1_(C-20),CCNT2 NA NA rs79247310 0.1 0.1 0.079 0.0856629 0.0497 0.2341 0.0216 0.0469 0.0675 0.05 0.26 0.02 0.04 0.0661 0.26 0.03 D 0.063 B 0.026 B 0.005 N 0.481 P 2.535 M 1.37 T -1.055 T 0.000 T 0.16 3.19 16.68 4.26 2.207 1.156 14.628 3.190187 3.190187 0.06 0.028293 0.040248 NA 0.029 NA 15.1892404 179 6 158910698 158910698 G A exonic TULP4 NA nonsynonymous SNV TULP4:NM_001007466:exon9:c.G1565A:p.S522N,TULP4:NM_020245:exon9:c.G1565A:p.S522N exonic ENSG00000130338 NA nonsynonymous SNV ENSG00000130338:ENST00000367094:exon9:c.G1565A:p.S522N,ENSG00000130338:ENST00000367097:exon9:c.G1565A:p.S522N Score=628;Name=lod=477 NA 6q25.3 Score=791;Name=V$BACH1_01 NA Name=3 NA rs12206717 0.03 0.03 0.022 0.0317492 0.0527 0.001 0.0476 0.0038 0.0685 0.05 NA 0.06 0.01 0.0466 0.06 0.44 T 0.007 B 0.009 B 0.000 D 1.000 D -0.41 N 0.85 T -1.046 T 0.064 T 0.025 2.908 15.69 5.57 2.614 4.954 19.542 2.908482 2.908482 0.28 0.059186 0.016341 NA 0.029 NA 15.1748474 179 2 58316814 58316814 A G exonic VRK2 NA nonsynonymous SNV VRK2:NM_001130480:exon7:c.A499G:p.I167V,VRK2:NM_001130481:exon7:c.A499G:p.I167V,VRK2:NM_001130482:exon7:c.A430G:p.I144V,VRK2:NM_001130483:exon7:c.A499G:p.I167V,VRK2:NM_006296:exon7:c.A499G:p.I167V exonic ENSG00000028116 NA nonsynonymous SNV ENSG00000028116:ENST00000340157:exon7:c.A499G:p.I167V,ENSG00000028116:ENST00000412104:exon7:c.A499G:p.I167V,ENSG00000028116:ENST00000440705:exon7:c.A430G:p.I144V,ENSG00000028116:ENST00000417641:exon9:c.A499G:p.I167V,ENSG00000028116:ENST00000435505:exon10:c.A499G:p.I167V Score=600;Name=lod=366 NA 2p16.1 Score=906;Name=V$TATA_01 NA NA NA rs1051061 0.34 0.34 0.305 0.301917 0.3966 0.4117 0.3703 0.0651 0.363 0.4 0.43 0.4 0.09 0.3576 0.43 0.09 T 0.997 D 0.994 D 0.000 D 0.001 P 2.305 M 1.65 T -0.936 T 0.000 T 0.314 4.022 20.6 5.67 2.150 3.798 14.879 4.021668 4.021668 0.06 0.404496 0.106446 NA 0.225 NA 15.1746374 179 12 49314994 49314994 A G exonic CCDC65 NA nonsynonymous SNV CCDC65:NM_033124:exon8:c.A1223G:p.Y408C exonic ENSG00000139537 NA nonsynonymous SNV ENSG00000139537:ENST00000552942:exon6:c.A914G:p.Y305C,ENSG00000139537:ENST00000266984:exon8:c.A1223G:p.Y408C,ENSG00000139537:ENST00000320516:exon8:c.A1223G:p.Y408C Score=536;Name=lod=202 NA 12q13.12 NA Name=Pol2 NA NA rs4760600 0.36 0.36 0.321 0.308107 0.4095 0.4444 0.4942 0.1014 0.2106 0.4 0.46 0.44 0.1 0.3692 0.46 0.06 T 1.0 D 0.996 D 0.000 D 0.000 P 2.585 M 4.31 T -0.932 T 0.000 T 0.565 3.679 18.69 4.47 1.029 3.979 11.262 3.678629 3.678629 0 0.382209 0.157739 NA 0.232 NA 15.1724244 179 17 56584205 56584205 A C exonic MTMR4 NA nonsynonymous SNV MTMR4:NM_004687:exon10:c.T890G:p.V297G exonic ENSG00000108389 NA nonsynonymous SNV ENSG00000108389:ENST00000323456:exon10:c.T890G:p.V297G,ENSG00000108389:ENST00000579925:exon10:c.T890G:p.V297G Score=409;Name=lod=61 Name=Dental caries 17q22 NA NA Name=11 NA rs2302189 0.41 0.41 0.379 0.397165 0.3688 0.5298 0.5591 0.2451 0.3804 0.37 0.53 0.53 0.23 0.418 0.53 0.28 T 0.891 P 0.628 P 0.000 D 0.000 P 1.745 L -3.1 D -1.043 T 0.000 T 0.362 3.143 16.51 4.55 1.091 3.781 10.854 3.143399 3.143399 0.31 0.376279 0.278711 NA 0.341 NA 15.1702544 180 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 180 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 181 6 4087949 4087949 A T exonic C6orf201 NA nonsynonymous SNV C6orf201:NM_001085401:exon2:c.A74T:p.D25V exonic ENSG00000185689 NA nonsynonymous SNV ENSG00000185689:ENST00000430835:exon1:c.A74T:p.D25V,ENSG00000185689:ENST00000436110:exon1:c.A74T:p.D25V,ENSG00000185689:ENST00000451679:exon1:c.A74T:p.D25V,ENSG00000185689:ENST00000380175:exon2:c.A74T:p.D25V Score=243;Name=lod=13 NA 6p25.2 NA NA NA NA rs13200786 0.04 0.04 0.035 0.0473243 0.0626 0.001 0.0216 0.0794 0.0542 0.06 NA 0.02 0.07 0.0581 0.077 0 D 1.0 D 0.998 D 0.000 D 1.000 D 0.895 L 1.32 T -1.034 T 0.078 T 0.394 3.333 17.22 3.07 0.757 3.615 7.774 3.332943 3.332943 0 0.066304 0.076742 NA 0.043 NA 15.1463294 182 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 182 9 138377498 138377498 G T exonic PPP1R26 NA nonsynonymous SNV PPP1R26:NM_014811:exon4:c.G1142T:p.R381L exonic ENSG00000196422 NA nonsynonymous SNV ENSG00000196422:ENST00000605660:exon1:c.G1142T:p.R381L,ENSG00000196422:ENST00000401470:exon3:c.G1142T:p.R381L,ENSG00000196422:ENST00000604351:exon3:c.G1142T:p.R381L,ENSG00000196422:ENST00000356818:exon4:c.G1142T:p.R381L,ENSG00000196422:ENST00000605286:exon4:c.G1142T:p.R381L Score=523;Name=lod=178 NA 9q34.3 NA NA NA NA rs34151777 0.04 0.04 0.036 0.0227636 0.0746 NA 0.0476 0.003 0.002 0.08 NA 0.05 0.002 0.0489 0.08 0 D 1.0 D 0.999 D 0.002 N 0.002 P 2.085 M 2.3 T -1.132 T 0.009 T 0.238 3.516 17.96 4.92 2.262 2.336 17.114 3.515599 3.515599 0 0.067442 0.011348 NA 0.094 NA 15.1423914 182 3 14724345 14724345 G A exonic C3orf20 NA nonsynonymous SNV C3orf20:NM_032137:exon3:c.G125A:p.G42D exonic ENSG00000131379 NA nonsynonymous SNV ENSG00000131379:ENST00000253697:exon3:c.G125A:p.G42D Score=466;Name=lod=104 NA 3p25.1 NA NA NA NA rs17040154 0.06 0.06 0.051 0.0597045 0.0676 0.0823 0.098 0.0008 0.0808 0.06 0.08 0.09 NA 0.066 0.09 0 D 1.0 D 0.999 D 0.000 D 0.000 P 1.1 L 1.81 T -1.113 T 0.006 T 0.347 4.117 21.2 5.28 2.465 5.001 15.838 4.116651 4.116651 0 0.058605 0.014753 NA 0.022 NA 15.1411284 182 4 103188709 103188709 C T exonic SLC39A8 NA nonsynonymous SNV SLC39A8:NM_001135148:exon7:c.G970A:p.A324T,SLC39A8:NM_022154:exon7:c.G1171A:p.A391T,SLC39A8:NM_001135146:exon8:c.G1171A:p.A391T,SLC39A8:NM_001135147:exon8:c.G1171A:p.A391T exonic ENSG00000138821 NA nonsynonymous SNV ENSG00000138821:ENST00000394833:exon7:c.G1171A:p.A391T,ENSG00000138821:ENST00000356736:exon8:c.G1171A:p.A391T,ENSG00000138821:ENST00000424970:exon8:c.G1171A:p.A391T Score=523;Name=lod=178 Name=Diastolic blood pressure,Hypertension,Systolic blood pressure,Blood pressure,HDL cholesterol,Body mass index 4q24 NA NA NA NA rs13107325 0.03 0.03 0.037 0.0235623 0.0795 NA 0.0504 0.0023 NA 0.08 NA 0.04 0.002 0.0424 0.08 0.16 T 0.888 P 0.679 P 0.000 D 1.000 D 1.59 L 0.92 T -1.190 T 0.011 T 0.131 3.624 18.44 4.43 2.483 1.769 12.395 3.624463 3.624463 0.01 0.075698 0.015433 NA 0.014 NA 15.1357354 183 X 48317386 48317386 A G exonic SLC38A5 NA nonsynonymous SNV SLC38A5:NM_033518:exon17:c.T1352C:p.M451T exonic ENSG00000017483 NA nonsynonymous SNV ENSG00000017483:ENST00000376875:exon13:c.T1199C:p.M400T,ENSG00000017483:ENST00000376876:exon16:c.T1352C:p.M451T,ENSG00000017483:ENST00000317669:exon17:c.T1352C:p.M451T Score=516;Name=lod=166 NA Xp11.23 NA NA Name=7 NA rs17281188 0.09 0.09 0.07234 NA NA NA NA NA NA 0.07 0.08 0.19 0.04 0.1291 0.19 0.21 T 0.998 D 0.98 D 0.000 D 0.000 P 3.09 M 4.26 T -1.097 T 0.001 T 0.309 2.258 13.51 3.88 0.570 8.322 8.550 2.257794 2.257794 0.06 0.074427 0.032368 NA 0.051 NA 15.1298064 183 5 96513471 96513471 G C exonic RIOK2 NA nonsynonymous SNV RIOK2:NM_001159749:exon3:c.C287G:p.S96C,RIOK2:NM_018343:exon3:c.C287G:p.S96C exonic ENSG00000058729 NA nonsynonymous SNV ENSG00000058729:ENST00000283109:exon3:c.C287G:p.S96C,ENSG00000058729:ENST00000508447:exon3:c.C287G:p.S96C Score=662;Name=lod=651 NA 5q15 NA NA NA NA rs2544773 0.36 0.36 0.304 0.341254 0.4095 0.4782 0.4308 0.0749 0.4264 0.42 0.44 0.42 0.11 0.3972 0.44 0 D 1.0 D 0.984 D 0.000 D 0.000 P 3.295 M 3.49 T -0.977 T 0.000 T 0.448 4.786 26.9 5.7 2.683 9.230 19.433 4.78584 4.78584 0 0.397442 0.132547 NA 0.348 NA 15.1291914 183 10 99439556 99439556 A C exonic AVPI1 NA nonsynonymous SNV AVPI1:NM_021732:exon2:c.T107G:p.L36R exonic ENSG00000119986 NA nonsynonymous SNV ENSG00000119986:ENST00000370626:exon2:c.T107G:p.L36R Score=458;Name=lod=97 NA 10q24.2 NA NA NA NA rs11556392 0.04 0.04 0.034 0.0477236 0.0606 0.0714 0.0303 0.0023 0.0838 0.06 0.06 0.04 0.0041 0.0678 0.078 0.01 D 1.0 D 0.999 D . . 1.000 D 1.5 L 1.44 T -1.143 T 0.011 T 0.291 4.256 22.2 5.09 2.131 6.553 13.984 4.256234 4.256234 0 0.077791 0.017022 ID=COSM1162384;OCCURENCE=1(pancreas) 0.014 NA 15.1271424 184 9 140358581 140358581 C T exonic PNPLA7 NA nonsynonymous SNV PNPLA7:NM_152286:exon27:c.G3148A:p.D1050N,PNPLA7:NM_001098537:exon28:c.G3223A:p.D1075N exonic ENSG00000130653 NA nonsynonymous SNV ENSG00000130653:ENST00000371457:exon17:c.G1966A:p.D656N,ENSG00000130653:ENST00000277531:exon27:c.G3148A:p.D1050N,ENSG00000130653:ENST00000434090:exon27:c.G3121A:p.D1041N,ENSG00000130653:ENST00000406427:exon28:c.G3223A:p.D1075N Score=363;Name=lod=40 NA 9q34.3 NA NA NA NA rs4962237 0.05 0.05 0.037 0.0447284 0.0765 0.004 0.0274 0.0673 0.0358 0.07 0.01 0.04 0.06 0.064 0.072 0.37 T 1.0 D 0.99 D 0.000 D 1.000 D 0.99 L -0.84 T -0.773 T 0.062 T 0.246 2.932 15.77 3.86 1.855 7.419 15.136 2.931663 2.931663 0.22 0.07186 0.064004 NA 0.007 NA 15.1209734 185 2 43452618 43452618 C T exonic ZFP36L2 NA nonsynonymous SNV ZFP36L2:NM_006887:exon2:c.G325A:p.G109S exonic ENSG00000152518 NA nonsynonymous SNV ENSG00000152518:ENST00000282388:exon2:c.G325A:p.G109S Score=625;Name=lod=463 NA 2p21 Score=825;Name=V$ATF_01 Name=CCNT2,Pol2 Name=138 NA rs11675632 0.05 0.05 0.042 0.0706869 0.0676 0.003 0.036 0.0552 0.1892 0.07 0.01 0.04 0.07 0.0845 0.07 0.71 T 0.047 B 0.013 B 0.001 D 1.000 D 0.585 N 0.89 T -1.092 T 0.005 T 0.063 4.009 20.5 3.24 0.527 -0.959 6.861 4.009224 4.009224 0.16 0.069318 0.048564 NA 0.029 NA 15.1119154 185 17 37224211 37224211 C T exonic PLXDC1 NA nonsynonymous SNV PLXDC1:NM_020405:exon14:c.G1385A:p.R462H exonic ENSG00000161381 NA nonsynonymous SNV ENSG00000161381:ENST00000444911:exon13:c.G1265A:p.R422H,ENSG00000161381:ENST00000315392:exon14:c.G1385A:p.R462H Score=480;Name=lod=119 NA 17q12 Score=848;Name=V$CREBP1_Q2 NA NA NA rs75117355 0.09 0.09 0.077 0.0714856 0.0746 0.1349 0.1124 0.0182 0.046 0.08 0.13 0.13 0.02 0.0759 0.13 0.09 T 1.0 D 0.994 D 0.004 N 0.000 P 1.975 M 1.79 T -1.194 T 0.002 T 0.43 4.859 27.7 5.27 2.632 4.971 15.959 4.859336 4.859336 0.21 0.074302 0.025647 NA 0.072 NA 15.1085314 185 17 7529902 7529902 G A exonic SAT2 NA nonsynonymous SNV SAT2:NM_133491:exon6:c.C376T:p.R126C exonic ENSG00000141504 NA nonsynonymous SNV ENSG00000141504:ENST00000573566:exon5:c.C274T:p.R92C,ENSG00000141504:ENST00000269298:exon6:c.C376T:p.R126C Score=391;Name=lod=52 NA 17p13.1 NA NA NA NA rs13894 0.06 0.06 0.059 0.076278 0.0815 0.0437 0.0562 0.0787 0.1155 0.08 0.04 0.06 0.06 0.0725 0.08 0 D 1.0 D 0.984 D 0.000 D 0.000 P 1.57 L 0.91 T -0.891 T 0.015 T 0.418 4.134 21.3 4.23 1.419 1.850 9.666 4.134125 4.134125 0 0.072093 0.073309 NA 0.051 NA 15.1072404 186 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 187 1 17266536 17266536 G C exonic CROCC NA nonsynonymous SNV CROCC:NM_014675:exon13:c.G1756C:p.D586H exonic ENSG00000058453 NA nonsynonymous SNV ENSG00000058453:ENST00000375541:exon13:c.G1756C:p.D586H Score=374;Name=lod=44 NA 1p36.13 NA NA NA NA rs9435714 0.24 0.24 0.218 NA NA NA NA NA NA 0.25 0.36 0.22 0.1 0.2566 0.36 0.09 T 1.0 D 0.974 D . . 0.990 D 2.36 M 2.82 T -0.955 T 0.000 T 0.531 2.782 15.26 4.08 1.432 5.471 11.879 2.782176 2.782176 0 NA NA NA 0.101 NA 15.0767334 188 20 31671619 31671619 G T exonic BPIFB4 NA nonsynonymous SNV BPIFB4:NM_182519:exon3:c.G616T:p.G206W exonic ENSG00000186191 NA nonsynonymous SNV ENSG00000186191:ENST00000375483:exon3:c.G616T:p.G206W Score=464;Name=lod=103 NA 20q11.21 NA NA NA NA rs2424943 0.07 0.07 0.068 0.0632987 0.0905 0.0466 0.0533 0.0666 0.0552 0.09 0.05 0.06 0.05 0.0785 0.1 0 D 1.0 D 0.999 D 0.000 D 0.081 P 1.65 L 5.03 T -0.975 T 0.000 T 0.239 3.003 16.01 3.21 1.791 4.879 10.050 3.002716 3.002716 0.01 0.103958 0.070032 NA 0.065 NA 15.0603754 188 3 196050834 196050834 C T exonic TM4SF19 NA nonsynonymous SNV TM4SF19:NM_001204898:exon4:c.G406A:p.V136I,TM4SF19:NM_138461:exon5:c.G484A:p.V162I exonic ENSG00000145107 NA nonsynonymous SNV ENSG00000145107:ENST00000454715:exon4:c.G406A:p.V136I,ENSG00000145107:ENST00000273695:exon5:c.G484A:p.V162I,ENSG00000145107:ENST00000442633:exon5:c.G484A:p.V162I Score=423;Name=lod=70 NA 3q29 NA Name=Rad21,CTCF_(SC-5916),CTCF,USF1_(SC-8983),USF-1 Name=51 NA rs35643777 0.06 0.06 0.054 0.0483227 0.1074 NA 0.072 0.053 0.0143 0.11 NA 0.08 0.04 0.0719 0.11 0.24 T 0.999 D 0.992 D 0.001 D 0.000 P . . 1.53 T -1.038 T 0.004 T . 2.341 13.79 4.26 1.170 0.551 9.852 2.340852 2.340852 0.43 0.098837 0.064231 NA 0.036 NA 15.0551964 189 7 48081095 48081095 G T exonic C7orf57 NA nonsynonymous SNV C7orf57:NM_001100159:exon3:c.G220T:p.A74S exonic ENSG00000164746 NA nonsynonymous SNV ENSG00000164746:ENST00000348904:exon3:c.G220T:p.A74S,ENSG00000164746:ENST00000420324:exon3:c.G355T:p.A119S,ENSG00000164746:ENST00000430738:exon3:c.G355T:p.A119S,ENSG00000164746:ENST00000539619:exon3:c.G220T:p.A74S Score=352;Name=lod=36 NA 7p12.3 NA NA NA NA rs10951942 0.36 0.36 0.348 0.357428 0.4513 0.3294 0.3559 0.2383 0.4519 0.44 0.37 0.35 0.25 0.4035 0.44 0 D 0.989 D 0.962 D 0.000 D 0.000 P 2.32 M 0.93 T -0.977 T 0.000 T 0.502 3.621 18.43 5.69 2.670 6.127 17.297 3.621309 3.621309 0.05 0.428156 0.231053 NA 0.297 NA 15.0503774 189 21 16339172 16339172 G C exonic NRIP1 NA nonsynonymous SNV NRIP1:NM_003489:exon4:c.C1342G:p.R448G exonic ENSG00000180530 NA nonsynonymous SNV ENSG00000180530:ENST00000400199:exon3:c.C1342G:p.R448G,ENSG00000180530:ENST00000400202:exon3:c.C1342G:p.R448G,ENSG00000180530:ENST00000318948:exon4:c.C1342G:p.R448G Score=603;Name=lod=378 NA 21q11.2 NA NA NA NA rs2229742 0.05 0.05 0.045 0.038738 0.0984 NA 0.0562 0.0038 0.0521 0.1 NA 0.06 0.01 0.0805 0.1 0.1 T 0.999 D 0.964 D 0.000 D 1.000 D 1.795 L 2.11 T -1.229 T 0.004 T 0.322 2.799 15.32 5.16 1.494 2.239 14.515 2.799433 2.799433 0.05 0.104419 0.01793 NA 0.022 NA 15.0500144 190 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,CTCF_(SC-5916),YY1_(C-20),Rad21,SMC3_(ab9263) 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 191 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 192 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 192 11 68512543 68512543 A G exonic MTL5 NA nonsynonymous SNV MTL5:NM_001039656:exon4:c.T667C:p.C223R,MTL5:NM_004923:exon4:c.T667C:p.C223R exonic ENSG00000132749 NA nonsynonymous SNV ENSG00000132749:ENST00000255087:exon4:c.T667C:p.C223R,ENSG00000132749:ENST00000443940:exon4:c.T667C:p.C223R,ENSG00000132749:ENST00000544963:exon4:c.T667C:p.C223R Score=496;Name=lod=138 NA 11q13.3 Score=732;Name=V$MEF2_04 NA NA NA rs12365708 0.07 0.07 0.066 0.0471246 0.1193 0.0188 0.0706 0.0204 0.0215 0.12 0.03 0.07 0.02 0.0864 0.12 0.2 T 1.0 D 0.999 D 0.000 D 0.000 P 1.04 L 0.75 T -0.923 T 0.009 T 0.558 2.413 14.03 5.35 2.006 1.869 13.567 2.413044 2.413044 0 0.105288 0.031591 NA 0.043 NA 15.0223454 192 12 100708367 100708367 C T exonic SCYL2 NA nonsynonymous SNV SCYL2:NM_017988:exon8:c.C1070T:p.P357L exonic ENSG00000136021 NA nonsynonymous SNV ENSG00000136021:ENST00000360820:exon8:c.C1070T:p.P357L,ENSG00000136021:ENST00000549687:exon8:c.C1070T:p.P357L Score=685;Name=lod=807 NA 12q23.1 NA NA NA NA rs33968174 0.05 0.05 0.046 0.0353435 0.1103 NA 0.0461 0.0061 0.0266 0.11 NA 0.06 0.01 0.0838 0.12 0.83 T 0.996 D 0.919 D 0.000 D 1.000 D 1.725 L 1.52 T -1.129 T 0.003 T 0.659 4.998 29.3 5.43 2.721 7.568 19.617 4.997584 4.997584 0.01 0.119386 0.019746 NA 0.13 NA 15.0198474 192 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 192 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 193 1 62257036 62257036 A C exonic INADL NA nonsynonymous SNV INADL:NM_176877:exon9:c.A1085C:p.E362A exonic ENSG00000132849 NA nonsynonymous SNV ENSG00000132849:ENST00000316485:exon9:c.A1085C:p.E362A,ENSG00000132849:ENST00000371158:exon9:c.A1085C:p.E362A Score=499;Name=lod=142 NA 1p31.3 NA NA NA NA rs1286823 0.06 0.06 0.052 0.0461262 0.1243 0.0248 0.0634 0.0061 0.0297 0.12 0.02 0.09 0.01 0.0798 0.12 0.04 D 0.972 D 0.926 D 0.000 D 0.000 P 0.895 L 2.18 T -1.090 T 0.001 T 0.167 1.931 12.41 5.17 2.173 6.050 10.415 1.930837 1.930837 0.01 0.115 0.021788 NA 0.029 NA 15.0142334 193 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 193 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 193 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 193 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 194 17 56598991 56598991 T A exonic SEPT4 NA nonsynonymous SNV SEPT4:NM_001198713:exon8:c.A908T:p.E303V,SEPT4:NM_001256822:exon8:c.A491T:p.E164V,SEPT4:NM_004574:exon8:c.A932T:p.E311V,SEPT4:NM_080416:exon8:c.A875T:p.E292V,SEPT4:NM_001256782:exon9:c.A977T:p.E326V exonic ENSG00000108387 NA nonsynonymous SNV ENSG00000108387:ENST00000579371:exon7:c.A635T:p.E212V,ENSG00000108387:ENST00000580844:exon7:c.A635T:p.E212V,ENSG00000108387:ENST00000317256:exon8:c.A875T:p.E292V,ENSG00000108387:ENST00000317268:exon8:c.A932T:p.E311V,ENSG00000108387:ENST00000393086:exon8:c.A875T:p.E292V,ENSG00000108387:ENST00000412945:exon8:c.A908T:p.E303V,ENSG00000108387:ENST00000583114:exon8:c.A491T:p.E164V,ENSG00000108387:ENST00000457347:exon9:c.A977T:p.E326V Score=662;Name=lod=652 NA 17q22 Score=845;Name=V$CDP_02 NA NA NA rs17741424 0.05 0.05 0.053 0.0435304 0.1243 NA 0.0533 0.0045 0.0511 0.11 NA 0.07 0.0041 0.086 0.12 0.03 D 0.905 P 0.743 P 0.000 D 0.000 P 1.255 L 1.23 T -1.087 T 0.002 T 0.558 0.918 8.736 5.59 2.116 5.151 13.705 0.917894 NA 0.03 0.120581 0.022923 ID=COSM1579559;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.007 NA 15.0024524 194 3 72971366 72971366 G A exonic GXYLT2 NA stopgain GXYLT2:NM_001080393:exon3:c.G480A:p.W160X exonic ENSG00000172986 NA stopgain ENSG00000172986:ENST00000498315:exon2:c.G102A:p.W34X,ENSG00000172986:ENST00000389617:exon3:c.G480A:p.W160X Score=425;Name=lod=71 NA 3p13 NA NA NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA NA NA 1 T . . . . 0.000 D 1.000 A . . . . . . . . . 8.818 41 5.78 2.735 8.769 19.632 8.817791 8.817791 0 NA NA NA NA NA 14.999 194 1 16532498 16532498 G A exonic ARHGEF19 NA nonsynonymous SNV ARHGEF19:NM_153213:exon8:c.C1379T:p.P460L exonic ENSG00000142632 NA nonsynonymous SNV ENSG00000142632:ENST00000441785:exon2:c.C428T:p.P143L,ENSG00000142632:ENST00000270747:exon8:c.C1379T:p.P460L,ENSG00000142632:ENST00000421561:exon8:c.C1379T:p.P460L Score=419;Name=lod=67 NA 1p36.13 NA NA NA NA rs41269185 0.05 0.05 0.047 0.0365415 0.1034 NA 0.062 0.0038 0.0317 0.1 NA 0.08 0.01 0.1135 0.12 0.02 D 0.999 D 0.983 D 0.000 D 0.000 P 1.54 L 2.17 T -1.030 T 0.005 T 0.298 4.014 20.6 4.66 2.129 8.216 15.048 4.013593 4.013593 0.01 0.119679 0.022923 NA 0.109 NA 14.9967544 195 17 29167653 29167653 A C exonic ATAD5 NA nonsynonymous SNV ATAD5:NM_024857:exon4:c.A2095C:p.N699H exonic ENSG00000176208 NA nonsynonymous SNV ENSG00000176208:ENST00000321990:exon4:c.A2095C:p.N699H,ENSG00000176208:ENST00000578295:exon4:c.A2095C:p.N699H Score=452;Name=lod=92 NA 17q11.2 NA NA NA NA rs3764421 0.13 0.13 0.112 0.144169 0.1074 0.1359 0.1859 0.0711 0.2597 0.09 0.16 0.18 0.09 0.1322 0.18 0.01 D 0.998 D 0.939 D 0.813 N 0.080 P 1.905 M 2.94 T -1.127 T 0.000 T 0.081 2.039 12.78 5.9 2.260 4.491 16.316 2.039141 2.039141 0 0.103488 0.072628 ID=COSM436300;OCCURENCE=1(breast) 0.138 NA 14.9902454 195 6 146007332 146007332 C T exonic EPM2A NA synonymous SNV EPM2A:NM_001018041:exon2:c.G402A:p.G134G,EPM2A:NM_005670:exon2:c.G402A:p.G134G exonic ENSG00000112425 NA synonymous SNV ENSG00000112425:ENST00000367519:exon2:c.G402A:p.G134G Score=585;Name=lod=317 NA 6q24.3 NA NA NA NA rs35230590 0.14 0.14 0.103 0.122005 0.2266 0.0089 0.3314 0.0008 0.1462 0.23 0.0035 0.36 0.002 0.2051 0.36 0.02 D . . . . 0.000 D 0.000 P . . -3.06 D 0.869 D 0.857 D . 1.16 9.721 3.81 1.357 0.678 10.780 1.159735 NA NA 0.247326 0.0463 NA 0.246 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116986.2;CLNDSDB=.;CLNDSDBID=. 14.9876406 196 2 242407588 242407588 G A exonic FARP2 NA nonsynonymous SNV FARP2:NM_014808:exon18:c.G1927A:p.V643I exonic ENSG00000006607 NA nonsynonymous SNV ENSG00000006607:ENST00000264042:exon18:c.G1927A:p.V643I Score=378;Name=lod=46 NA 2q37.3 Score=748;Name=V$EVI1_01 NA NA NA rs41342147 0.08 0.08 0.097 0.0842652 0.1153 0.0258 0.0893 0.0938 0.0961 0.12 0.04 0.08 0.09 0.1034 0.13 0.61 T 0.999 D 0.997 D 0.000 D 0.000 P 0.96 L -0.04 T -1.052 T 0.005 T 0.189 4.129 21.3 4.96 2.290 9.096 18.238 4.129199 4.129199 0.38 0.132558 0.085338 NA 0.065 NA 14.9820754 196 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$GATA1_03 NA NA NA rs4736794 0.16 0.16 0.152 0.159744 0.1014 0.3343 0.2118 0.0227 0.1881 0.1 0.36 0.19 0.02 0.1603 0.36 . . 0.999 D 0.996 D 0.000 D 0.016 P 1.14 L 0.99 T -0.965 T 0.000 T 0.177 4.057 20.8 5.29 2.009 6.903 11.640 4.056992 4.056992 NA 0.094937 0.030472 NA 0.159 NA 14.9766964 197 10 129350856 129350856 G C exonic NPS NA nonsynonymous SNV NPS:NM_001030013:exon3:c.G223C:p.V75L exonic ENSG00000214285 NA nonsynonymous SNV ENSG00000214285:ENST00000398023:exon3:c.G223C:p.V75L Score=503;Name=lod=148 NA 10q26.2 NA Name=STAT3 NA NA rs4751440 0.05 0.05 0.049 0.0421326 0.1243 NA 0.0461 0.0053 0.0481 0.13 NA 0.06 0.0041 0.0957 0.14 0 D 1.0 D 0.996 D 0.014 U 0.003 P . . 0.27 T -0.966 T 0.006 T 0.388 4.521 24.3 5.47 2.578 4.581 19.326 4.520777 4.520777 0 0.139532 0.022043 NA 0.065 NA 14.9738014 197 13 31480720 31480720 G A exonic MEDAG NA nonsynonymous SNV MEDAG:NM_032849:exon1:c.G68A:p.R23H exonic ENSG00000102802 NA nonsynonymous SNV ENSG00000102802:ENST00000380482:exon1:c.G68A:p.R23H Score=562;Name=lod=256 NA 13q12.3 Score=811;Name=V$OLF1_01 NA Name=9 NA rs71436423 0.06 0.06 0.068 0.048123 0.1262 0.002 0.0663 0.0303 0.0266 0.12 0.0017 0.07 0.05 0.1137 0.12 0.06 T 0.999 D 0.991 D 0.021 N 0.100 P 0.695 N 0.75 T -1.025 T 0.004 T 0.166 4.607 25.1 4.9 2.272 3.137 14.971 4.606995 4.606995 0.04 0.122828 0.034667 ID=COSM432293;OCCURENCE=1(breast) NA NA 14.9706054 198 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$ELK1_02 Name=HEY1,HA-E2F1,CCNT2 Name=136 NA rs59332477 0.42 0.42 0.394 0.376597 0.4583 0.3819 0.5202 0.3495 0.2219 0.47 0.4 0.46 0.33 0.4683 0.47 0.43 T 1.0 D 0.997 D . . 0.000 P 1.27 L -0.24 T -0.929 T 0.000 T 0.174 4.252 22.2 4.61 2.390 3.585 14.290 4.252406 4.252406 0.17 0.445586 0.365784 NA 0.37 NA 14.9611474 199 21 34059352 34059352 T C exonic SYNJ1 NA nonsynonymous SNV SYNJ1:NM_001160302:exon8:c.A884G:p.K295R,SYNJ1:NM_001160306:exon8:c.A884G:p.K295R,SYNJ1:NM_003895:exon8:c.A1001G:p.K334R,SYNJ1:NM_203446:exon8:c.A1001G:p.K334R exonic ENSG00000159082 NA nonsynonymous SNV ENSG00000159082:ENST00000322229:exon7:c.A884G:p.K295R,ENSG00000159082:ENST00000357345:exon8:c.A884G:p.K295R,ENSG00000159082:ENST00000382491:exon8:c.A884G:p.K295R,ENSG00000159082:ENST00000382499:exon8:c.A1001G:p.K334R,ENSG00000159082:ENST00000429236:exon8:c.A884G:p.K295R,ENSG00000159082:ENST00000433931:exon8:c.A1001G:p.K334R Score=643;Name=lod=548 NA 21q22.11 Score=873;Name=V$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 199 4 843508 843508 C T exonic GAK NA nonsynonymous SNV GAK:NM_005255:exon28:c.G3889A:p.D1297N exonic ENSG00000178950 NA nonsynonymous SNV ENSG00000178950:ENST00000511163:exon25:c.G3652A:p.D1218N,ENSG00000178950:ENST00000314167:exon28:c.G3889A:p.D1297N Score=611;Name=lod=405 NA 4p16.3 NA NA Name=3 NA rs1134921 0.11 0.11 0.096 0.0842652 0.1223 0.1319 0.1715 0.0053 0.0409 0.12 0.16 0.18 0.01 0.1282 0.18 0.14 T 1.0 D 1.0 D 0.000 D 0.000 P 1.18 L 1.56 T -1.106 T 0.001 T 0.107 3.627 18.45 4.76 2.167 7.295 15.271 3.627461 3.627461 0.01 0.129302 0.025193 NA 0.123 NA 14.9535314 199 3 12962074 12962074 G A exonic IQSEC1 NA nonsynonymous SNV IQSEC1:NM_001134382:exon6:c.C1876T:p.P626S,IQSEC1:NM_014869:exon6:c.C1918T:p.P640S exonic ENSG00000144711 NA nonsynonymous SNV ENSG00000144711:ENST00000273221:exon6:c.C1918T:p.P640S,ENSG00000144711:ENST00000429247:exon6:c.C1876T:p.P626S Score=532;Name=lod=194 NA 3p25.2 NA NA NA NA rs35319679 0.11 0.11 0.105 0.0798722 0.1362 0.1627 0.0865 0.0091 0.0276 0.12 0.2 0.1 0.0041 0.1125 0.2 0.03 D 0.993 D 0.951 D 0.000 D 0.000 P . . 0.36 T -1.153 T 0.001 T 0.459 4.682 25.9 4.59 2.104 6.629 17.373 4.682337 4.682337 0.01 0.135349 0.037222 NA 0.101 NA 14.9492844 200 17 27438469 27438469 G A exonic MYO18A NA nonsynonymous SNV MYO18A:NM_078471:exon17:c.C2873T:p.A958V,MYO18A:NM_203318:exon17:c.C2873T:p.A958V exonic ENSG00000196535 NA nonsynonymous SNV ENSG00000196535:ENST00000354329:exon16:c.C2873T:p.A958V,ENSG00000196535:ENST00000527372:exon17:c.C2873T:p.A958V,ENSG00000196535:ENST00000531253:exon17:c.C2873T:p.A958V,ENSG00000196535:ENST00000533112:exon17:c.C2873T:p.A958V Score=548;Name=lod=224 NA 17q11.2 Score=811;Name=V$BRN2_01 NA NA NA rs8076604 0.53 0.53 0.514 0.528355 0.4523 0.8671 0.4107 0.4009 0.5133 0.45 0.84 0.41 0.4 0.4925 0.84 0.76 T 1.0 D 0.997 D 0.000 D 0.000 P 0.655 N -2.1 D -0.904 T 0.000 T 0.541 5.372 34 5.29 2.468 9.359 18.933 5.372198 5.372198 0 0.445891 0.410237 NA 0.623 NA 14.9426424 200 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 200 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 200 9 140100317 140100317 C G exonic NDOR1 NA nonsynonymous SNV NDOR1:NM_001144026:exon1:c.C88G:p.R30G,NDOR1:NM_001144027:exon1:c.C88G:p.R30G,NDOR1:NM_001144028:exon1:c.C88G:p.R30G,NDOR1:NM_014434:exon1:c.C88G:p.R30G exonic ENSG00000188566 NA nonsynonymous SNV ENSG00000188566:ENST00000344894:exon1:c.C88G:p.R30G,ENSG00000188566:ENST00000371521:exon1:c.C88G:p.R30G,ENSG00000188566:ENST00000427047:exon1:c.C88G:p.R30G,ENSG00000188566:ENST00000458322:exon1:c.C88G:p.R30G Score=450;Name=lod=90 NA 9q34.3 Score=909;Name=V$AP2_Q6 Name=HEY1,TAF1,Pol2-4H8,Pol2,HA-E2F1,TBP NA NA rs113809617 0.14 0.14 0.113 0.141973 0.1392 0.1935 0.1354 0.0749 0.1871 0.15 0.2 0.12 0.09 0.1391 0.2 0.06 T 0.437 B 0.382 B 0.000 D 0.001 P 2.08 M -0.73 T -1.031 T 0.001 T 0.217 4.121 21.2 3.93 1.025 1.712 8.691 4.120832 4.120832 0.09 0.115771 0.086597 ID=COSM1235562,COSM1235563;OCCURENCE=3(haematopoietic_and_lymphoid_tissue) 0.058 NA 14.9392624 200 10 69959242 69959242 C A exonic MYPN NA nonsynonymous SNV MYPN:NM_032578:exon17:c.C3403A:p.P1135T,MYPN:NM_001256267:exon18:c.C3403A:p.P1135T,MYPN:NM_001256268:exon21:c.C2521A:p.P841T exonic ENSG00000138347 NA nonsynonymous SNV ENSG00000138347:ENST00000354393:exon17:c.C2578A:p.P860T,ENSG00000138347:ENST00000358913:exon17:c.C3403A:p.P1135T,ENSG00000138347:ENST00000540630:exon17:c.C3403A:p.P1135T Score=519;Name=lod=171 NA 10q21.3 Score=816;Name=V$PAX3_01 NA NA NA rs7079481 0.36 0.36 0.346 0.340256 0.4841 0.2391 0.402 0.2163 0.4202 0.48 0.26 0.43 0.24 0.4323 0.48 . . 1.0 D 1.0 D 0.000 D 0.000 P 1.06 L -0.65 T -0.935 T 0.000 T 0.56 4.791 27 5.38 2.813 7.595 19.331 4.791076 4.791076 0 0.478605 0.263958 NA 0.326 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000024493.2;CLNDSDB=.;CLNDSDBID=. 14.9383284 200 6 33153528 33153528 C T exonic COL11A2 NA nonsynonymous SNV COL11A2:NM_080680:exon6:c.G826A:p.E276K exonic ENSG00000204248 NA nonsynonymous SNV ENSG00000204248:ENST00000341947:exon6:c.G826A:p.E276K,ENSG00000204248:ENST00000357486:exon6:c.G826A:p.E276K,ENSG00000204248:ENST00000374712:exon6:c.G826A:p.E276K,ENSG00000204248:ENST00000395197:exon6:c.G826A:p.E276K,ENSG00000204248:ENST00000457788:exon6:c.G826A:p.E276K Score=512;Name=lod=160 NA 6p21.32 Score=788;Name=V$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 201 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$LYF1_01 NA NA NA rs78124913 0.13 0.13 0.127 0.122604 0.1481 0.2083 0.1369 0.0098 0.1503 0.15 0.21 0.14 0.01 0.1309 0.21 0.38 T 0.75 P 0.473 P 0.000 D 0.000 P 1.1 L -2.33 D -1.097 T 0.001 T 0.366 3.135 16.48 4.88 1.827 9.283 13.682 3.135052 3.135052 0.22 0.124186 0.03064 ID=COSM150386;OCCURENCE=1(stomach) 0.065 NA 14.9301474 202 2 228135631 228135631 C T exonic COL4A3 NA nonsynonymous SNV COL4A3:NM_000091:exon25:c.C1721T:p.P574L exonic ENSG00000169031 NA nonsynonymous SNV ENSG00000169031:ENST00000396578:exon25:c.C1721T:p.P574L NA NA 2q36.3 NA NA NA NA rs28381984 0.39 0.39 0.362 0.39996 0.4732 0.4752 0.4409 0.152 0.5532 0.46 0.47 0.44 0.16 0.4694 0.47 0.04 D 1.0 D 1.0 D 0.001 D 0.000 P 2.36 M -3.16 D -1.332 T 0.000 T 0.277 3.793 19.26 5.8 2.740 2.193 16.968 3.793365 3.793365 0 0.470186 0.210328 NA 0.471 NA 14.9205474 203 2 21250914 21250914 G A exonic APOB NA nonsynonymous SNV APOB:NM_000384:exon14:c.C1853T:p.A618V exonic ENSG00000084674 NA nonsynonymous SNV ENSG00000084674:ENST00000233242:exon14:c.C1853T:p.A618V,ENSG00000084674:ENST00000399256:exon14:c.C1853T:p.A618V Score=355;Name=lod=37 NA 2p24.1 NA NA NA NA rs679899 0.49 0.49 0.475 0.485024 0.4742 0.8641 0.3919 0.1301 0.6513 0.49 0.84 0.4 0.15 0.4857 0.84 0.23 T 1.0 D 0.998 D 0.000 D 0.000 P 2.205 M -0.62 T -0.928 T 0.000 T 0.792 4.994 29.3 5.73 2.882 6.554 20.289 4.993916 4.993916 0 0.462209 0.176804 NA 0.406 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116384.2;CLNDSDB=.;CLNDSDBID=. 14.9112244 203 18 334742 334742 C T exonic COLEC12 NA nonsynonymous SNV COLEC12:NM_130386:exon6:c.G1816A:p.G606S exonic ENSG00000158270 NA nonsynonymous SNV ENSG00000158270:ENST00000400256:exon6:c.G1816A:p.G606S Score=363;Name=lod=40 NA 18p11.32 Score=878;Name=V$NCX_01 NA NA NA rs2305027 0.41 0.41 0.408 0.367612 0.493 0.4563 0.3473 0.2572 0.3108 0.49 0.41 0.33 0.33 0.4353 0.5 . . 1.0 D 0.998 D 0.000 D 0.000 P 1.905 M 2.35 T -0.898 T 0.000 T 0.168 3.157 16.56 4.5 1.232 5.137 14.448 3.156627 3.156627 NA 0.495814 0.289378 NA 0.5 NA 14.9092194 203 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$ER_Q6 NA NA NA rs235768 0.76 0.76 0.773 0.766773 0.6223 0.8284 0.7291 0.9803 0.59 0.63 0.8 0.69 0.98 0.6743 0.98 0.01 D 0.978 D 0.871 P 0.000 D 0.000 P 2.855 M -0.45 T -1.044 T 0.000 T 0.329 2.955 15.85 5.72 2.319 4.861 16.363 2.955336 2.955336 0 0.627674 0.927793 NA 0.674 NA 14.9090594 203 6 32811629 32811629 G T exonic PSMB8 NA nonsynonymous SNV PSMB8:NM_148919:exon1:c.C145A:p.Q49K exonic ENSG00000204264 NA nonsynonymous SNV ENSG00000204264:ENST00000374882:exon1:c.C145A:p.Q49K,ENSG00000204264:ENST00000395339:exon1:c.C145A:p.Q49K Score=454;Name=lod=93 NA 6p21.32 Score=854;Name=V$OLF1_01 Name=Pol2,Pol2-4H8,RFX5_(N-494) NA NA rs2071543 0.14 0.14 0.119 0.151957 0.1471 0.1677 0.1888 0.0961 0.1902 0.15 0.17 0.17 0.08 0.1453 0.17 0.26 T 0.226 B 0.092 B 0.000 D 0.000 P 2.125 M 1.88 T -1.074 T 0.064 T 0.249 3.403 17.49 5.64 2.817 4.246 15.554 3.403017 3.403017 0.05 0.133493 0.115639 NA 0.152 NA 14.9074404 204 22 23482483 23482483 G A exonic RTDR1 NA nonsynonymous SNV RTDR1:NM_014433:exon2:c.C125T:p.T42M exonic ENSG00000100218 NA nonsynonymous SNV ENSG00000100218:ENST00000452757:exon1:c.C5T:p.T2M,ENSG00000100218:ENST00000216036:exon2:c.C125T:p.T42M,ENSG00000100218:ENST00000406876:exon2:c.C125T:p.T42M Score=284;Name=lod=19 NA 22q11.22 NA Name=PAX5-N19,PAX5-C20 NA NA rs35211242 0.08 0.08 0.082 0.0824681 0.1471 0.0387 0.0879 0.0182 0.1442 0.15 0.04 0.09 0.01 0.126 0.16 0.09 T 1.0 D 0.999 D 0.001 N 0.004 P 2.425 M 2.19 T -1.026 T 0.002 T 0.524 2.218 13.37 3.89 1.214 2.293 10.896 2.218034 2.218034 0 0.155814 0.036087 NA 0.13 NA 14.9044194 205 12 21331549 21331549 T C exonic SLCO1B1 NA nonsynonymous SNV SLCO1B1:NM_006446:exon6:c.T521C:p.V174A exonic ENSG00000134538 NA nonsynonymous SNV ENSG00000134538:ENST00000256958:exon6:c.T521C:p.V174A NA Name=Bilirubin levels,Sex hormone-binding globulin levels,Response to statin therapy 12p12.1 NA NA NA NA rs4149056 0.12 0.12 0.1 0.0876597 0.161 0.123 0.134 0.0136 0.0429 0.17 0.13 0.14 0.03 0.1294 0.17 0 D 1.0 D 0.996 D 0.001 N 1.000 P 3.35 M 0.95 T -0.941 T 0.001 T 0.192 1.924 12.39 3.62 1.641 7.326 12.676 1.923669 1.923669 0 0.155349 0.036087 NA 0.08 NA 14.8875844 206 5 34008100 34008100 C T exonic AMACR NA nonsynonymous SNV AMACR:NM_001167595:exon1:c.G25A:p.V9M,AMACR:NM_014324:exon1:c.G25A:p.V9M,AMACR:NM_203382:exon1:c.G25A:p.V9M exonic ENSG00000242110 NA nonsynonymous SNV ENSG00000242110:ENST00000335606:exon1:c.G25A:p.V9M,ENSG00000242110:ENST00000382072:exon1:c.G25A:p.V9M,ENSG00000242110:ENST00000382085:exon1:c.G25A:p.V9M,ENSG00000242110:ENST00000441713:exon1:c.G25A:p.V9M,ENSG00000242110:ENST00000502637:exon1:c.G25A:p.V9M,ENSG00000242110:ENST00000506639:exon1:c.G25A:p.V9M NA NA 5p13.2 NA Name=Pol2(phosphoS2),Pol2,CTCF,E2F6_(H-50),Brg1,Pol2-4H8,NFKB,TAF1,HMGN3,STAT1,HEY1,c-Myc,YY1_(C-20),NRSF,BAF170,Sin3Ak-20,SETDB1,CCNT2,TBP,Pol2(b),BAF155 Name=148 NA rs3195676 0.38 0.38 0.411 0.286941 0.505 0.3542 0.4078 0.1415 0.1043 0.52 0.35 0.45 0.15 0.4227 0.52 0.03 D 0.888 P 0.579 P 0.172 N 0.000 P 3.375 M 0.32 T -0.902 T 0.000 T 0.163 3.338 17.23 -9.44 -3.351 -1.233 14.296 3.337535 3.337535 0.07 0.523787 0.209854 ID=COSM449566;OCCURENCE=3(breast) 0.399 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116320.2;CLNDSDB=.;CLNDSDBID=. 14.8818464 207 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 207 6 31632134 31632134 C A exonic GPANK1 NA nonsynonymous SNV GPANK1:NM_033177:exon2:c.G122T:p.R41L,GPANK1:NM_001199237:exon3:c.G122T:p.R41L,GPANK1:NM_001199238:exon3:c.G122T:p.R41L,GPANK1:NM_001199239:exon3:c.G122T:p.R41L,GPANK1:NM_001199240:exon3:c.G122T:p.R41L exonic ENSG00000204438 NA nonsynonymous SNV ENSG00000204438:ENST00000375896:exon2:c.G122T:p.R41L,ENSG00000204438:ENST00000375893:exon3:c.G122T:p.R41L,ENSG00000204438:ENST00000375895:exon3:c.G122T:p.R41L,ENSG00000204438:ENST00000375900:exon3:c.G122T:p.R41L,ENSG00000204438:ENST00000375906:exon3:c.G122T:p.R41L,ENSG00000204438:ENST00000445768:exon3:c.G122T:p.R41L,ENSG00000204438:ENST00000456540:exon3:c.G122T:p.R41L,ENSG00000204438:ENST00000458083:exon3:c.G122T:p.R41L Score=466;Name=lod=104 NA 6p21.33 NA Name=HNF4A_(H-171),HNF4G_(SC-6558) NA NA rs3130618 0.13 0.13 0.148 0.133387 0.1461 0.0714 0.0793 0.2126 0.1155 0.15 0.06 0.08 0.23 0.1501 0.23 0.08 T 1.0 D 0.997 D 0.000 D 0.000 P 1.04 L 2.66 T -0.668 T 0.221 T 0.507 3.122 16.43 5.18 2.415 3.194 16.189 3.12188 3.12188 0.14 0.179186 0.199955 ID=COSM1443317;OCCURENCE=1(large_intestine) 0.159 NA 14.8579474 208 19 55598724 55598724 A G exonic EPS8L1 NA nonsynonymous SNV EPS8L1:NM_017729:exon14:c.A1625G:p.K542R,EPS8L1:NM_133180:exon19:c.A2006G:p.K669R exonic ENSG00000131037 NA nonsynonymous SNV ENSG00000131037:ENST00000588359:exon8:c.A1064G:p.K355R,ENSG00000131037:ENST00000245618:exon14:c.A1625G:p.K542R,ENSG00000131037:ENST00000540810:exon17:c.A1814G:p.K605R,ENSG00000131037:ENST00000201647:exon19:c.A2006G:p.K669R Score=494;Name=lod=136 NA 19q13.42 Score=826;Name=V$AP4_01 Name=Pol2 NA NA rs1054940 0.45 0.45 0.459 0.467652 0.506 0.4514 0.4597 0.3419 0.6207 0.5 0.45 0.47 0.35 0.4983 0.5 0.22 T 1.0 D 0.998 D 0.000 D 0.000 P 1.71 L 1.81 T -0.883 T 0.000 T 0.171 4.868 27.8 4.02 1.768 5.360 11.493 4.868341 4.868341 0.07 0.493484 0.36149 ID=COSM1481526,COSM440334;OCCURENCE=1(breast) 0.326 NA 14.8355494 209 6 136599393 136599393 G C exonic BCLAF1 NA nonsynonymous SNV BCLAF1:NM_001077440:exon4:c.C620G:p.S207C,BCLAF1:NM_001077441:exon4:c.C626G:p.S209C,BCLAF1:NM_014739:exon4:c.C626G:p.S209C exonic ENSG00000029363 NA nonsynonymous SNV ENSG00000029363:ENST00000392348:exon2:c.C620G:p.S207C,ENSG00000029363:ENST00000353331:exon4:c.C620G:p.S207C,ENSG00000029363:ENST00000527536:exon4:c.C626G:p.S209C,ENSG00000029363:ENST00000527613:exon4:c.C626G:p.S209C,ENSG00000029363:ENST00000527759:exon4:c.C620G:p.S207C,ENSG00000029363:ENST00000529826:exon4:c.C626G:p.S209C,ENSG00000029363:ENST00000530429:exon4:c.C620G:p.S207C,ENSG00000029363:ENST00000530767:exon4:c.C626G:p.S209C,ENSG00000029363:ENST00000531224:exon4:c.C626G:p.S209C,ENSG00000029363:ENST00000532384:exon4:c.C626G:p.S209C,ENSG00000029363:ENST00000534269:exon4:c.C620G:p.S207C Score=810;Name=lod=2601 NA 6q23.3 Score=731;Name=V$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 209 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 209 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 209 17 73753098 73753098 G A exonic ITGB4 NA nonsynonymous SNV ITGB4:NM_001005619:exon37:c.G5077A:p.V1693M,ITGB4:NM_001005731:exon37:c.G4918A:p.V1640M,ITGB4:NM_000213:exon38:c.G5128A:p.V1710M exonic ENSG00000132470 NA nonsynonymous SNV ENSG00000132470:ENST00000449880:exon37:c.G5077A:p.V1693M,ENSG00000132470:ENST00000450894:exon37:c.G4918A:p.V1640M,ENSG00000132470:ENST00000579662:exon37:c.G4918A:p.V1640M,ENSG00000132470:ENST00000200181:exon38:c.G5128A:p.V1710M,ENSG00000132470:ENST00000339591:exon38:c.G5077A:p.V1693M Score=554;Name=lod=238 NA 17q25.1 Score=935;Name=V$HSF1_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005018 NA 0.12 T 0.97 D 0.665 P 0.003 N 1.000 D 0.79 N 0.43 T -0.972 T 0.134 T 0.361 1.915 12.36 2.98 1.242 0.637 8.479 1.915243 1.915243 0 NA NA NA NA NA 14.8332832 209 2 204001482 204001482 A G exonic NBEAL1 NA nonsynonymous SNV NBEAL1:NM_001114132:exon28:c.A4463G:p.D1488G exonic ENSG00000144426 NA nonsynonymous SNV ENSG00000144426:ENST00000449802:exon28:c.A4463G:p.D1488G Score=632;Name=lod=492 NA 2q33.2 NA NA NA NA rs182954834 0.0009 0.0009 NA 0.000199681 NA NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.00005823 0.0028 0.23 T 0.976 D 0.612 P 0.588 N 1.000 D 2.16 M 0.43 T -0.820 T 0.233 T 0.398 3.763 19.11 4.78 1.052 6.905 13.064 3.763236 3.763236 0.03 NA NA NA NA NA 14.8332752 209 9 119413896 119413896 T C exonic ASTN2 NA nonsynonymous SNV ASTN2:NM_001184734:exon2:c.A139G:p.K47E,ASTN2:NM_001184735:exon2:c.A139G:p.K47E,ASTN2:NM_198186:exon2:c.A286G:p.K96E,ASTN2:NM_198187:exon2:c.A139G:p.K47E,ASTN2:NM_198188:exon2:c.A139G:p.K47E,ASTN2:NM_014010:exon16:c.A2830G:p.K944E exonic ENSG00000148219 NA nonsynonymous SNV ENSG00000148219:ENST00000288520:exon2:c.A286G:p.K96E,ENSG00000148219:ENST00000341734:exon2:c.A139G:p.K47E,ENSG00000148219:ENST00000358637:exon2:c.A139G:p.K47E,ENSG00000148219:ENST00000373986:exon15:c.A2152G:p.K718E,ENSG00000148219:ENST00000361209:exon16:c.A2830G:p.K944E,ENSG00000148219:ENST00000361477:exon16:c.A139G:p.K47E,ENSG00000148219:ENST00000313400:exon17:c.A2983G:p.K995E,ENSG00000148219:ENST00000373996:exon17:c.A2971G:p.K991E Score=611;Name=lod=405 NA 9q33.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009064 NA . . 0.774 P 0.164 B 0.000 D 0.998 D 0.895 L 1.41 T -1.104 T 0.051 T 0.3 3.369 17.36 5.48 2.085 5.350 15.233 3.369129 3.369129 0.18 NA NA NA NA NA 14.8332428 209 10 79616564 79616564 G A exonic DLG5 NA nonsynonymous SNV DLG5:NM_004747:exon3:c.C460T:p.R154W exonic ENSG00000151208 NA nonsynonymous SNV ENSG00000151208:ENST00000372388:exon3:c.C460T:p.R154W,ENSG00000151208:ENST00000372391:exon3:c.C460T:p.R154W,ENSG00000151208:ENST00000468332:exon3:c.C235T:p.R79W Score=529;Name=lod=188 NA 10q22.3 NA NA NA NA rs111767303 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006634 0.0001 0 D 0.999 D 0.906 P 0.004 N 0.977 N 2.08 M 0.53 T -0.486 T 0.294 T 0.534 2.875 15.58 3.27 1.230 4.594 15.916 2.875328 2.875328 0 0.000116 0 NA NA NA 14.8331511 209 9 136277979 136277979 G A exonic REXO4 NA nonsynonymous SNV REXO4:NM_020385:exon3:c.C635T:p.A212V exonic ENSG00000148300 NA nonsynonymous SNV ENSG00000148300:ENST00000371942:exon3:c.C635T:p.A212V,ENSG00000148300:ENST00000445916:exon3:c.C356T:p.A119V,ENSG00000148300:ENST00000453165:exon3:c.C590T:p.A197V Score=409;Name=lod=61 NA 9q34.2 NA NA NA NA rs139090649 NA NA NA 0.000998403 NA NA NA NA 0.0051 NA NA NA NA 0.0008 0.0001 0.12 T 0.816 P 0.085 B 0.000 D 1.000 D 2.165 M 2.01 T -0.981 T 0.076 T 0.718 4.094 21.1 5.13 2.395 7.099 17.557 4.09406 4.09406 0 0.000116 0 NA NA NA 14.8324174 209 11 111707001 111707001 T C exonic ALG9 NA nonsynonymous SNV ALG9:NM_001077691:exon13:c.A976G:p.I326V,ALG9:NM_001077692:exon13:c.A955G:p.I319V,ALG9:NM_001077690:exon14:c.A1468G:p.I490V,ALG9:NM_024740:exon14:c.A1489G:p.I497V exonic ENSG00000086848 NA nonsynonymous SNV ENSG00000086848:ENST00000398006:exon13:c.A955G:p.I319V,ENSG00000086848:ENST00000531154:exon13:c.A976G:p.I326V Score=648;Name=lod=576 NA 11q23.1 NA NA Name=26 NA rs138584071 0.0005 0.0005 0.001 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0001 0.0013 0.78 T 0.504 P 0.138 B 0.000 D 1.000 D 1.12 L -0.99 T -0.726 T 0.236 T 0.445 2.625 14.74 5.2 2.090 7.974 15.354 2.624975 2.624975 0.02 0.000122 0.000269 ID=COSM1193264,COSM1193263,COSM1193262;OCCURENCE=1(lung) NA NA 14.8321114 209 4 120422407 120422407 T G exonic PDE5A NA nonsynonymous SNV PDE5A:NM_001083:exon20:c.A2408C:p.D803A,PDE5A:NM_033430:exon20:c.A2282C:p.D761A,PDE5A:NM_033437:exon20:c.A2252C:p.D751A exonic ENSG00000138735 NA nonsynonymous SNV ENSG00000138735:ENST00000264805:exon20:c.A2282C:p.D761A,ENSG00000138735:ENST00000354960:exon20:c.A2408C:p.D803A,ENSG00000138735:ENST00000394439:exon20:c.A2252C:p.D751A Score=634;Name=lod=501 NA 4q26 NA NA NA NA rs149385790 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001 0.0009 0.49 T 0.992 D 0.618 P 0.000 D 1.000 D 0.27 N -1.46 T -0.937 T 0.140 T 0.939 2.74 15.12 5.29 2.005 7.304 15.215 2.739808 2.739808 0.53 0.00093 0 NA NA NA 14.8314034 209 1 228109247 228109247 C T exonic WNT9A NA nonsynonymous SNV WNT9A:NM_003395:exon4:c.G1070A:p.R357H exonic ENSG00000143816 NA nonsynonymous SNV ENSG00000143816:ENST00000272164:exon4:c.G1070A:p.R357H Score=333;Name=lod=30 NA 1q42.13 NA NA NA NA rs145836311 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0011 0.002 0.35 T 0.985 D 0.806 P 0.000 D 0.998 D 1.375 L -1.02 T -0.390 T 0.419 T 0.604 4.393 23.2 4.64 2.414 1.420 10.293 4.392902 4.392902 NA 0.001977 0.000227 NA NA NA 14.8292564 209 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 209 20 23375624 23375624 T C exonic NAPB NA nonsynonymous SNV NAPB:NM_022080:exon5:c.A355G:p.I119V exonic ENSG00000125814 NA nonsynonymous SNV ENSG00000125814:ENST00000398425:exon4:c.A73G:p.I25V,ENSG00000125814:ENST00000432543:exon4:c.A238G:p.I80V,ENSG00000125814:ENST00000377026:exon5:c.A355G:p.I119V Score=562;Name=lod=257 NA 20p11.21 NA NA NA NA rs117825139 0.0009 0.0009 0.001 0.000599042 0.002 NA NA NA 0.001 0.0026 NA NA NA 0.0016 0.0026 0.16 T 0.575 P 0.406 B 0.000 D 1.000 D 2.615 M 1.58 T -0.923 T 0.135 T 0.489 2.635 14.77 5.46 2.074 7.921 14.710 2.635159 2.635159 0.05 0.002326 0.000681 NA NA NA 14.8274074 210 20 17956347 17956347 C T exonic MGME1 NA nonsynonymous SNV MGME1:NM_052865:exon3:c.C532T:p.R178W exonic ENSG00000125871 NA nonsynonymous SNV ENSG00000125871:ENST00000377709:exon3:c.C292T:p.R98W,ENSG00000125871:ENST00000377710:exon3:c.C532T:p.R178W Score=401;Name=lod=57 NA 20p11.23 NA NA NA NA rs143417446 0.0027 0.0027 0.001 0.00219649 0.007 NA 0.0043 NA 0.001 0.01 NA 0.0028 NA 0.0042 0.01 0.01 D 0.996 D 0.663 P 0.535 N 1.000 D 1.04 L 0.9 T -1.033 T 0.092 T 0.176 3.811 19.35 4.55 1.318 5.528 11.489 3.811327 3.811327 0.02 0.004186 0.001135 NA NA NA 14.8179474 211 1 36225948 36225948 T C exonic CLSPN NA nonsynonymous SNV CLSPN:NM_001190481:exon8:c.A1574G:p.N525S,CLSPN:NM_022111:exon8:c.A1574G:p.N525S exonic ENSG00000092853 NA nonsynonymous SNV ENSG00000092853:ENST00000251195:exon8:c.A1574G:p.N525S,ENSG00000092853:ENST00000318121:exon8:c.A1574G:p.N525S,ENSG00000092853:ENST00000373220:exon8:c.A1574G:p.N525S,ENSG00000092853:ENST00000520551:exon8:c.A1574G:p.N525S Score=564;Name=lod=262 NA 1p34.3 NA NA NA NA rs7537203 0.46 0.46 0.458 0.453674 0.1352 0.7401 0.4323 0.674 0.2035 0.13 0.78 0.4 0.64 0.2718 0.78 0.13 T 0.999 D 0.994 D 0.000 D 0.015 P 2.215 M 1.73 T -1.044 T 0.000 T 0.083 3.836 19.48 5.08 1.907 3.600 13.406 3.835941 3.835941 0.05 0.133488 0.591693 NA 0.319 NA 14.7928454 211 12 109623516 109623516 G A exonic ACACB NA nonsynonymous SNV ACACB:NM_001093:exon11:c.G1951A:p.A651T exonic ENSG00000076555 NA nonsynonymous SNV ENSG00000076555:ENST00000377848:exon11:c.G1951A:p.A651T,ENSG00000076555:ENST00000377854:exon11:c.G1951A:p.A651T,ENSG00000076555:ENST00000338432:exon12:c.G1951A:p.A651T Score=534;Name=lod=197 NA 12q24.11 Score=834;Name=V$HTF_01 NA NA NA rs2300455 0.16 0.16 0.151 0.159545 0.1581 0.2639 0.1571 0.0159 0.2495 0.16 0.28 0.19 0.02 0.1889 0.28 0.07 T 1.0 D 0.999 D 0.000 N 0.000 P 1.8 L -1.67 D -1.256 T 0.000 T 0.206 4.264 22.2 4.44 1.402 8.003 14.252 4.264058 4.264058 0 0.19814 0.044939 ID=COSM1358579;OCCURENCE=1(large_intestine) 0.159 NA 14.7881934 212 14 20665790 20665790 T A exonic OR11G2 NA nonsynonymous SNV OR11G2:NM_001005503:exon1:c.T296A:p.I99N exonic ENSG00000196832 NA nonsynonymous SNV ENSG00000196832:ENST00000357366:exon1:c.T296A:p.I99N Score=541;Name=lod=210 NA 14q11.2 Score=845;Name=V$ELK1_01 Name=PU.1 Name=5 NA rs4981822 0.48 0.48 0.468 0.442692 0.5378 0.5109 0.4582 0.2844 0.4775 0.53 0.52 0.51 0.34 0.4943 0.53 0.01 D 0.913 P 0.56 P 0.084 U 0.468 P 1.39 L 7.24 T -1.112 T 0.000 T 0.184 3.778 19.18 4.67 1.955 4.834 13.230 3.777865 3.777865 0 0.518256 0.328416 NA 0.457 NA 14.7829774 212 1 21042033 21042033 T C exonic KIF17 NA nonsynonymous SNV KIF17:NM_001122819:exon2:c.A331G:p.R111G,KIF17:NM_020816:exon2:c.A331G:p.R111G exonic ENSG00000117245 NA nonsynonymous SNV ENSG00000117245:ENST00000247986:exon2:c.A331G:p.R111G,ENSG00000117245:ENST00000375044:exon2:c.A31G:p.R11G,ENSG00000117245:ENST00000400463:exon2:c.A331G:p.R111G Score=284;Name=lod=19 NA 1p36.12 NA NA NA NA rs35835983 0.01 0.01 0.005 0.00658946 0.0249 NA 0.0058 0.0015 0.002 0.03 NA 0.01 0.002 0.0136 0.03 0 D 0.983 D 0.77 P 0.069 U 0.989 D 2.91 M -0.94 T -0.394 T 0.251 T 0.254 3.008 16.03 2.27 0.245 1.358 6.448 3.008129 3.008129 0.01 0.015698 0.00227 NA 0.007 NA 14.7791354 213 1 145583938 145583938 C G exonic PIAS3 NA nonsynonymous SNV PIAS3:NM_006099:exon10:c.C1169G:p.S390C exonic ENSG00000131788 NA nonsynonymous SNV ENSG00000131788:ENST00000393045:exon10:c.C1169G:p.S390C,ENSG00000131788:ENST00000369298:exon11:c.C1064G:p.S355C Score=695;Name=lod=887 NA 1q21.1 NA NA NA NA rs17354559 0.01 0.01 0.007 0.00658946 0.0229 NA 0.0086 NA 0.0041 0.02 NA 0.01 NA 0.0137 0.025 0.06 T 0.992 D 0.751 P 0.001 D 1.000 D 1.675 L 1.37 T -1.053 T 0.112 T 0.188 2.844 15.47 5.54 2.884 1.653 17.027 2.844267 2.844267 0.11 0.024884 0.003631 NA NA NA 14.7718494 213 1 203028371 203028371 G T exonic PPFIA4 NA nonsynonymous SNV PPFIA4:NM_015053:exon7:c.G955T:p.A319S exonic ENSG00000143847 NA nonsynonymous SNV ENSG00000143847:ENST00000272198:exon7:c.G955T:p.A319S,ENSG00000143847:ENST00000599966:exon7:c.G955T:p.A319S,ENSG00000143847:ENST00000414050:exon14:c.G1594T:p.A532S,ENSG00000143847:ENST00000367240:exon19:c.G2410T:p.A804S,ENSG00000143847:ENST00000295706:exon24:c.G955T:p.A319S,ENSG00000143847:ENST00000447715:exon25:c.G2407T:p.A803S Score=556;Name=lod=243 NA 1q32.1 Score=852;Name=V$GATA1_03 NA NA NA rs61732315 0.12 0.12 0.09 0.121805 0.1759 0.1577 0.1196 0.0129 0.1779 0.19 0.12 0.1 0.02 0.2219 0.19 0.1 T 0.905 P 0.826 P 0.000 D 0.000 P 2.045 M 2.17 T -1.116 T 0.000 T 0.294 3.894 19.8 4.83 2.495 7.834 11.567 3.89408 3.89408 0.06 0.167762 0.039391 NA 0.196 NA 14.7677714 214 16 75563330 75563330 G A exonic CHST5 NA nonsynonymous SNV CHST5:NM_024533:exon3:c.C953T:p.T318M exonic ENSG00000135702 NA nonsynonymous SNV ENSG00000135702:ENST00000541075:exon2:c.C971T:p.T324M,ENSG00000135702:ENST00000336257:exon3:c.C953T:p.T318M Score=289;Name=lod=20 NA 16q23.1 NA NA NA NA rs3826107 0.16 0.16 0.156 0.142971 0.2048 0.2073 0.1398 0.1104 0.0593 0.19 0.17 0.18 0.1 0.1679 0.2 0.1 T 0.999 D 0.986 D 0.000 D 0.000 P 2.61 M 1.79 T -1.085 T 0.000 T 0.237 2.242 13.45 2.84 1.583 6.063 12.663 2.242109 2.242109 0.02 0.197791 0.122157 ID=COSM435778;OCCURENCE=2(breast) 0.08 NA 14.7628424 214 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 214 19 2098063 2098063 A T exonic IZUMO4 NA nonsynonymous SNV IZUMO4:NM_001031735:exon5:c.A410T:p.Y137F,IZUMO4:NM_001039846:exon5:c.A410T:p.Y137F exonic ENSG00000099840 NA nonsynonymous SNV ENSG00000099840:ENST00000395301:exon5:c.A410T:p.Y137F,ENSG00000099840:ENST00000395307:exon5:c.A410T:p.Y137F Score=415;Name=lod=65 NA 19p13.3 NA NA NA NA rs45506200 0.01 0.01 0.012 0.0107827 0.0298 NA 0.0187 0.0023 0.0082 0.03 NA 0.02 NA 0.0167 0.03 0 D 0.994 D 0.824 P 0.003 N 1.000 D 0.805 L 1.93 T -1.136 T 0.023 T 0.283 3.028 16.1 2.67 1.617 1.815 4.932 3.028079 3.028079 0 0.028953 0.004766 NA 0.014 NA 14.7578804 214 4 148560193 148560193 C T exonic PRMT10 NA nonsynonymous SNV PRMT10:NM_138364:exon11:c.G2240A:p.C747Y exonic ENSG00000164169 NA nonsynonymous SNV ENSG00000164169:ENST00000541232:exon10:c.G1901A:p.C634Y,ENSG00000164169:ENST00000322396:exon11:c.G2240A:p.C747Y Score=317;Name=lod=26 NA 4q31.23 NA NA Name=39 NA rs11557361 0.01 0.01 0.016 0.0081869 0.0338 NA 0.0101 NA NA 0.04 NA 0.01 NA 0.016 0.04 1 T 0.947 P 0.382 B 0.000 D 1.000 D 1.7 L 1.41 T -1.073 T 0.017 T 0.811 0.944 8.851 5.25 2.428 5.321 13.186 0.944484 NA 0.26 0.028488 0.004766 NA NA NA 14.7550454 215 6 155451352 155451352 G A exonic TIAM2 NA nonsynonymous SNV TIAM2:NM_012454:exon3:c.G995A:p.R332H exonic ENSG00000146426 NA nonsynonymous SNV ENSG00000146426:ENST00000360366:exon1:c.G995A:p.R332H,ENSG00000146426:ENST00000529824:exon1:c.G995A:p.R332H,ENSG00000146426:ENST00000318981:exon3:c.G995A:p.R332H,ENSG00000146426:ENST00000456144:exon3:c.G995A:p.R332H,ENSG00000146426:ENST00000528535:exon4:c.G995A:p.R332H,ENSG00000146426:ENST00000461783:exon6:c.G995A:p.R332H Score=389;Name=lod=51 NA 6q25.2 NA NA NA NA rs931312 0.2 0.2 0.189 0.235224 0.175 0.3026 0.2464 0.0711 0.4417 0.16 0.34 0.24 0.08 0.2218 0.34 0.16 T 1.0 D 0.991 D 0.000 D 0.000 P 2.19 M 3.24 T -1.156 T 0.047 T 0.767 2.757 15.18 4.99 2.489 7.136 16.852 2.757389 2.757389 0.02 0.182209 0.112574 NA 0.123 NA 14.7543244 215 10 101667814 101667814 A G exonic DNMBP NA nonsynonymous SNV DNMBP:NM_015221:exon6:c.T2492C:p.M831T exonic ENSG00000107554 NA nonsynonymous SNV ENSG00000107554:ENST00000422692:exon3:c.T356C:p.M119T,ENSG00000107554:ENST00000543621:exon3:c.T230C:p.M77T,ENSG00000107554:ENST00000324109:exon6:c.T2492C:p.M831T,ENSG00000107554:ENST00000342239:exon6:c.T2492C:p.M831T Score=569;Name=lod=275 NA 10q24.2 Score=857;Name=V$OCT1_02 NA NA NA rs17854134 0.01 0.01 0.011 0.00878594 0.0278 NA 0.0072 0.0008 0.0102 0.03 NA 0.01 NA 0.0228 0.032 0.45 T 0.673 P 0.396 B 0.000 D 1.000 D 0.235 N 0.03 T -0.988 T 0.062 T 0.56 3.123 16.44 5.99 2.291 7.443 16.494 3.123449 3.123449 0.01 0.03186 0.007036 NA NA NA 14.7508734 215 1 6046264 6046264 G A exonic NPHP4 NA nonsynonymous SNV NPHP4:NM_015102:exon2:c.C86T:p.T29M exonic ENSG00000131697 NA nonsynonymous SNV ENSG00000131697:ENST00000378156:exon2:c.C86T:p.T29M,ENSG00000131697:ENST00000378169:exon2:c.C86T:p.T29M,ENSG00000131697:ENST00000489180:exon2:c.C86T:p.T29M NA NA 1p36.31 Score=781;Name=V$HTF_01 NA Name=2 NA rs12142270 0.04 0.04 0.041 0.0383387 0.0268 0.001 0.0086 0.0983 0.0286 0.03 0.0017 0.01 0.11 0.0323 0.11 0.02 D 0.992 D 0.59 P 0.104 N 1.000 N 1.39 L -2.25 D -0.953 T 0.027 T 0.259 2.013 12.69 3.77 1.408 0.670 9.094 2.013098 2.013098 0.01 0.025102 0.078125 NA 0.014 NA 14.7491314 216 10 91405044 91405044 C T exonic PANK1 NA nonsynonymous SNV PANK1:NM_148977:exon1:c.G16A:p.G6S exonic ENSG00000152782 NA nonsynonymous SNV ENSG00000152782:ENST00000307534:exon1:c.G16A:p.G6S Score=586;Name=lod=322 NA 10q23.31 NA Name=Nrf1,TCF4,YY1_(C-20),CEBPB,TBP,E2F6_(H-50),TAF7_(SQ-8),HA-E2F1,Pol2,Pol2(phosphoS2),HEY1,Pol2-4H8,TAF1,NFKB Name=148 NA rs61853459 0.03 0.03 0.037 0.0469249 0.0258 0.0069 0.0187 0.0968 0.0624 0.02 0.0035 0.02 0.09 0.0351 0.09 0.69 T 0.572 P 0.047 B 0.679 N 1.000 D -0.345 N -6.39 D 0.230 D 0.232 T 0.124 3.613 18.39 2.02 0.603 -0.164 6.126 3.613066 3.613066 0 0.028537 0.05589 NA 0.051 NA 14.7438964 216 12 122674780 122674780 C A exonic LRRC43 NA nonsynonymous SNV LRRC43:NM_001098519:exon5:c.C766A:p.Q256K,LRRC43:NM_152759:exon5:c.C211A:p.Q71K exonic ENSG00000158113 NA nonsynonymous SNV ENSG00000158113:ENST00000339777:exon5:c.C766A:p.Q256K,ENSG00000158113:ENST00000425921:exon5:c.C211A:p.Q71K,ENSG00000158113:ENST00000537729:exon5:c.C211A:p.Q71K Score=514;Name=lod=164 NA 12q24.31 NA NA NA NA rs11060094 0.14 0.14 0.12 0.133986 0.2038 0.0357 0.2666 0.0953 0.1217 0.19 0.03 0.27 0.1 0.1789 0.27 0.1 T 0.982 D 0.968 D 0.000 D 0.030 P 1.945 M 1.91 T -1.139 T 0.000 T 0.298 4.269 22.3 4.95 2.309 4.532 17.807 4.268532 4.268532 0.07 0.207022 0.100507 NA 0.196 NA 14.7436114 216 20 61598731 61598731 C T exonic SLC17A9 NA nonsynonymous SNV SLC17A9:NM_022082:exon13:c.C1190T:p.T397M exonic ENSG00000101194 NA nonsynonymous SNV ENSG00000101194:ENST00000370351:exon13:c.C1190T:p.T397M,ENSG00000101194:ENST00000370349:exon14:c.C1172T:p.T391M Score=423;Name=lod=70 NA 20q13.33 NA NA NA NA rs7271712 0.05 0.05 0.046 0.0417332 0.0378 NA 0.0663 0.0923 0.0031 0.04 NA 0.06 0.1 0.0265 0.1 0.04 D 0.994 D 0.788 P 0.000 N 1.000 D 2.35 M 0.18 T -1.052 T 0.013 T 0.132 2.906 15.68 2.6 0.451 2.977 9.720 2.906278 2.906278 0 0.028201 0.083088 NA 0.08 NA 14.7408324 216 12 1910786 1910786 C T exonic CACNA2D4 NA nonsynonymous SNV CACNA2D4:NM_172364:exon30:c.G2746A:p.D916N exonic ENSG00000151062 NA nonsynonymous SNV ENSG00000151062:ENST00000538450:exon3:c.G136A:p.D46N,ENSG00000151062:ENST00000538027:exon4:c.G181A:p.D61N,ENSG00000151062:ENST00000587995:exon29:c.G2671A:p.D891N,ENSG00000151062:ENST00000382722:exon30:c.G2746A:p.D916N,ENSG00000151062:ENST00000585708:exon30:c.G2554A:p.D852N,ENSG00000151062:ENST00000586184:exon30:c.G2746A:p.D916N,ENSG00000151062:ENST00000588077:exon30:c.G2554A:p.D852N Score=459;Name=lod=98 NA 12p13.33 NA NA NA NA rs62621429 0.02 0.02 0.011 0.0105831 0.0308 NA 0.0187 0.0015 0.0072 0.03 NA 0.03 0.002 0.0395 0.03 0.31 T 0.973 D 0.848 P 0.000 N 1.000 D 1.805 L -1.64 D -0.269 T 0.333 T 0.132 3.391 17.44 4.69 1.358 5.693 11.504 3.39138 3.39138 0.2 0.026461 0.005167 NA 0.014 NA 14.7365724 217 11 5842356 5842356 A G exonic OR52N2 NA nonsynonymous SNV OR52N2:NM_001005174:exon1:c.A791G:p.H264R exonic ENSG00000180988 NA nonsynonymous SNV ENSG00000180988:ENST00000317037:exon1:c.A791G:p.H264R Score=278;Name=lod=18 NA 11p15.4 NA NA NA NA rs8181512 0.47 0.47 0.451 0.454273 0.5368 0.4692 0.4813 0.3411 0.4877 0.54 0.48 0.5 0.33 0.5121 0.55 0 D 0.991 D 0.984 D 0.000 D 0.000 P 3.16 M 8.75 T -0.997 T 0.000 T 0.319 2.553 14.5 6.09 2.336 4.960 15.492 2.552601 2.552601 0.01 0.553422 0.374602 NA 0.457 NA 14.7310114 217 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 218 14 23375564 23375564 G A exonic RBM23 NA nonsynonymous SNV RBM23:NM_001077352:exon4:c.C193T:p.R65W,RBM23:NM_018107:exon4:c.C193T:p.R65W,RBM23:NM_001077351:exon5:c.C241T:p.R81W exonic ENSG00000100461 NA nonsynonymous SNV ENSG00000100461:ENST00000346528:exon4:c.C193T:p.R65W,ENSG00000100461:ENST00000399922:exon4:c.C193T:p.R65W,ENSG00000100461:ENST00000359890:exon5:c.C241T:p.R81W,ENSG00000100461:ENST00000554256:exon5:c.C241T:p.R81W,ENSG00000100461:ENST00000555676:exon5:c.C193T:p.R65W,ENSG00000100461:ENST00000557464:exon5:c.C193T:p.R65W,ENSG00000100461:ENST00000557549:exon5:c.C193T:p.R65W,ENSG00000100461:ENST00000557571:exon5:c.C193T:p.R65W,ENSG00000100461:ENST00000556862:exon6:c.C241T:p.R81W Score=409;Name=lod=61 NA 14q11.2 NA NA NA NA rs72681969 0.02 0.02 NA 0.014377 0.0437 NA 0.0259 0.003 0.0061 0.04 NA 0.02 0.01 0.0281 0.04 0 D 0.999 D 0.861 P 0.010 N 1.000 D 1.04 L 3.34 T -0.287 T 0.204 T 0.341 4.171 21.6 4.83 2.398 2.301 15.184 4.170582 4.170582 0 0.037729 0.010669 NA 0.014 NA 14.7238044 218 20 31607551 31607551 G C exonic BPIFB2 NA nonsynonymous SNV BPIFB2:NM_025227:exon11:c.G1075C:p.D359H exonic ENSG00000078898 NA nonsynonymous SNV ENSG00000078898:ENST00000170150:exon11:c.G1075C:p.D359H Score=422;Name=lod=69 NA 20q11.21 NA Name=CTCF NA NA rs61734341 0.01 0.01 0.014 0.00938498 0.0328 NA 0.0058 0.0008 0.0092 0.03 NA 0.01 NA 0.0297 0.051 0.04 D 0.989 D 0.866 P 0.015 N 0.912 D 2.25 M 3.12 T -1.157 T 0.009 T 0.276 3.22 16.79 2.82 0.539 0.222 7.76 3.220116 3.220116 0.02 0.050814 0.011575 NA 0.007 NA 14.7200194 218 5 75996909 75996909 G A exonic IQGAP2 NA nonsynonymous SNV IQGAP2:NM_006633:exon34:c.G4376A:p.R1459Q exonic ENSG00000145703 NA nonsynonymous SNV ENSG00000145703:ENST00000396234:exon22:c.G2864A:p.R955Q,ENSG00000145703:ENST00000502745:exon22:c.G2864A:p.R955Q,ENSG00000145703:ENST00000379730:exon33:c.G2882A:p.R961Q,ENSG00000145703:ENST00000274364:exon34:c.G4376A:p.R1459Q Score=425;Name=lod=71 NA 5q13.3 NA NA NA NA rs34592828 0.02 0.02 0.012 0.0139776 0.0447 NA 0.0231 0.0008 0.0082 0.04 NA 0.02 0.002 0.0259 0.043 0.09 T 0.769 P 0.322 B 0.000 D 1.000 D 2.395 M 0.96 T -0.979 T 0.041 T 0.656 4.059 20.9 4.58 2.717 6.295 15.147 4.059023 4.059023 0.15 0.043023 0.008398 NA 0.014 NA 14.7197104 218 2 21249716 21249716 C T exonic APOB NA nonsynonymous SNV APOB:NM_000384:exon15:c.G2188A:p.V730I exonic ENSG00000084674 NA nonsynonymous SNV ENSG00000084674:ENST00000233242:exon15:c.G2188A:p.V730I,ENSG00000084674:ENST00000399256:exon15:c.G2188A:p.V730I Score=393;Name=lod=53 NA 2p24.1 NA Name=FOXA1_(C-20),Pol2,HEY1 NA NA rs12691202 0.02 0.02 0.02 0.0141773 0.0537 NA 0.0216 0.0008 0.001 0.05 NA 0.02 0.002 0.025 0.05 0.09 T 0.568 P 0.214 B 0.009 N 0.982 D 2.52 M 2.16 T -1.135 T 0.013 T 0.057 3.107 16.38 3.89 0.870 2.804 12.403 3.107203 3.107203 0.04 0.035116 0.006582 NA 0.007 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116385.2;CLNDSDB=.;CLNDSDBID=. 14.7195174 218 11 10647995 10647995 G A exonic MRVI1 NA nonsynonymous SNV MRVI1:NM_001098579:exon8:c.C862T:p.L288F,MRVI1:NM_001100163:exon9:c.C613T:p.L205F,MRVI1:NM_130385:exon9:c.C886T:p.L296F exonic ENSG00000072952 NA nonsynonymous SNV ENSG00000072952:ENST00000421747:exon8:c.C859T:p.L287F,ENSG00000072952:ENST00000436272:exon8:c.C805T:p.L269F,ENSG00000072952:ENST00000531107:exon8:c.C862T:p.L288F,ENSG00000072952:ENST00000547195:exon8:c.C613T:p.L205F,ENSG00000072952:ENST00000552103:exon8:c.C613T:p.L205F,ENSG00000072952:ENST00000423302:exon9:c.C886T:p.L296F,ENSG00000072952:ENST00000527509:exon9:c.C613T:p.L205F Score=489;Name=lod=130 NA 11p15.4 NA NA NA NA rs35468145 0.02 0.02 0.009 0.0249601 0.0378 0.0069 0.0259 0.003 0.0593 0.04 0.01 0.04 0.002 0.0384 0.04 0.18 T 0.985 D 0.775 P 0.096 N 1.000 D 1.995 M 2.96 T -1.221 T 0.022 T 0.172 2.998 16 5.56 2.630 2.303 14.763 2.998059 2.998059 0.02 0.039913 0.00747 NA 0.007 NA 14.7172204 218 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 219 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 219 3 194080916 194080916 G A exonic LRRC15 NA nonsynonymous SNV LRRC15:NM_130830:exon2:c.C857T:p.P286L,LRRC15:NM_001135057:exon3:c.C875T:p.P292L exonic ENSG00000172061 NA nonsynonymous SNV ENSG00000172061:ENST00000347624:exon2:c.C857T:p.P286L,ENSG00000172061:ENST00000439944:exon2:c.C875T:p.P292L,ENSG00000172061:ENST00000428839:exon3:c.C875T:p.P292L Score=284;Name=lod=19 NA 3q29 Score=855;Name=V$STAT5A_02 NA NA NA rs13070515 0.14 0.14 0.143 0.116813 0.2107 0.0685 0.1052 0.093 0.1104 0.23 0.08 0.12 0.09 0.1874 0.23 0.18 T 1.0 D 0.977 D . . 0.000 P 2.355 M 2.83 T -1.102 T 0.000 T 0.391 3.869 19.66 5.15 2.566 6.486 15.376 3.868769 3.868769 0.01 0.234186 0.098048 NA 0.159 NA 14.7010474 219 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 220 1 156848946 156848946 G T exonic NTRK1 NA nonsynonymous SNV NTRK1:NM_001012331:exon14:c.G1820T:p.G607V,NTRK1:NM_001007792:exon15:c.G1730T:p.G577V,NTRK1:NM_002529:exon15:c.G1838T:p.G613V exonic ENSG00000198400 NA nonsynonymous SNV ENSG00000198400:ENST00000358660:exon14:c.G1829T:p.G610V,ENSG00000198400:ENST00000368196:exon14:c.G1820T:p.G607V,ENSG00000198400:ENST00000392302:exon15:c.G1730T:p.G577V,ENSG00000198400:ENST00000524377:exon15:c.G1838T:p.G613V Score=505;Name=lod=150 NA 1q23.1 NA NA NA NA rs6339 0.02 0.02 0.017 0.0229633 0.0378 NA 0.0288 0.0015 0.0562 0.04 NA 0.03 NA 0.0424 0.06 0.13 T 0.573 P 0.186 B 0.350 N 1.000 A 1.165 L -2.4 D -0.584 T 0.333 T 0.492 2.905 15.68 3.44 2.432 3.522 4.986 2.904594 2.904594 0.01 0.060349 0.011575 NA 0.014 CLINSIG=pathogenic|pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Familial_medullary_thyroid_carcinoma|Hereditary_insensitivity_to_pain_with_anhidrosis|Hereditary_insensitivity_to_pain_with_anhidrosis|not_provided;CLNREVSTAT=single|single|single|single;CLNACC=RCV000013101.15|RCV000030667.21|RCV000031916.1|RCV000127263.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1257:C1833921:155240:ORPHA653|NBK1769:C0020074:256800:ORPHA642:62985007|NBK1769:C0020074:256800:ORPHA642:62985007|. 14.6927844 220 17 3195503 3195503 C T exonic OR3A1 NA nonsynonymous SNV OR3A1:NM_002550:exon1:c.G374A:p.R125Q exonic ENSG00000180090 NA nonsynonymous SNV ENSG00000180090:ENST00000323404:exon1:c.G374A:p.R125Q Score=541;Name=lod=210 NA 17p13.3 NA NA NA NA rs703903 0.59 0.59 0.513 0.55012 0.5427 0.9266 0.5447 0.2451 0.5859 0.54 0.96 0.57 0.25 0.5614 0.96 0 D 1.0 D 0.975 D 0.001 D 0.001 P 3.165 M -1.06 T -0.966 T 0.000 T 0.512 5.418 35 5.31 2.753 4.592 17.710 5.417656 5.417656 0 0.537209 0.307989 NA 0.514 NA 14.6920244 220 1 26673076 26673076 G A exonic AIM1L NA nonsynonymous SNV AIM1L:NM_001039775:exon2:c.C73T:p.R25W exonic ENSG00000176092 NA nonsynonymous SNV ENSG00000176092:ENST00000475866:exon2:c.C73T:p.R25W Score=440;Name=lod=82 NA 1p36.11 Score=741;Name=V$TCF11MAFG_01 Name=PU.1 NA NA rs11247924 0.17 0.17 0.167 0.179513 0.1918 0.1458 0.1931 0.1505 0.2311 0.17 0.18 0.2 0.14 0.2614 0.2 0.04 D 1.0 D 0.994 D . . 0.000 P 0.895 L 1.97 T -1.061 T 0.000 T 0.272 3.724 18.91 3.01 1.096 0.700 9.806 3.724308 3.724308 NA 0.194072 0.13804 NA 0.167 NA 14.6860614 220 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 221 7 72985148 72985148 C T exonic TBL2 NA nonsynonymous SNV TBL2:NM_012453:exon7:c.G1033A:p.V345I exonic ENSG00000106638 NA nonsynonymous SNV ENSG00000106638:ENST00000305632:exon7:c.G1033A:p.V345I,ENSG00000106638:ENST00000432538:exon7:c.G925A:p.V309I Score=507;Name=lod=153 NA 7q11.23 NA NA NA NA rs35607697 0.02 0.02 0.023 0.0157748 0.0567 NA 0.0216 0.0015 0.0051 0.05 NA 0.03 NA 0.04 0.052 0.29 T 0.969 D 0.585 P 0.000 D 1.000 D 1.07 L 1.6 T -1.169 T 0.014 T 0.192 3.756 19.07 5.1 1.538 5.786 12.973 3.755919 3.755919 0.26 0.052093 0.009305 NA 0.014 NA 14.6845404 221 20 24964558 24964558 T C exonic APMAP NA nonsynonymous SNV APMAP:NM_020531:exon2:c.A193G:p.I65V exonic ENSG00000101474 NA nonsynonymous SNV ENSG00000101474:ENST00000217456:exon2:c.A193G:p.I65V,ENSG00000101474:ENST00000447138:exon2:c.A193G:p.I65V Score=426;Name=lod=72 NA 20p11.21 NA NA NA NA rs12242 0.03 0.03 0.019 0.0167732 0.0567 NA 0.0245 0.0038 0.0051 0.06 NA 0.02 0.01 0.043 0.06 0.37 T 0.966 D 0.493 P 0.000 D 1.000 D 1.765 L 1.87 T -1.151 T 0.012 T 0.187 3.668 18.64 5.93 2.271 5.378 12.772 3.667973 3.667973 0.14 0.056977 0.008625 NA 0.101 NA 14.6766564 222 X 108708552 108708552 A G exonic GUCY2F NA nonsynonymous SNV GUCY2F:NM_001522:exon3:c.T851C:p.L284P exonic ENSG00000101890 NA nonsynonymous SNV ENSG00000101890:ENST00000218006:exon3:c.T851C:p.L284P Score=593;Name=lod=344 NA Xq23 NA NA NA NA rs12008095 0.19 0.19 0.18124 NA NA NA NA NA NA 0.41 0.04 0.22 0.02 0.2969 0.41 0.21 T 0.943 P 0.841 P 0.000 D 0.000 P 2.455 M -1.77 D -1.168 T 0.000 T 0.311 3.579 18.24 3.94 1.764 8.579 10.183 3.579314 3.579314 0 0.367122 0.071186 NA 0.152 NA 14.6693114 222 22 36684354 36684354 T C exonic MYH9 NA nonsynonymous SNV MYH9:NM_002473:exon34:c.A4876G:p.I1626V exonic ENSG00000100345 NA nonsynonymous SNV ENSG00000100345:ENST00000216181:exon34:c.A4876G:p.I1626V Score=576;Name=lod=293 NA 22q12.3 NA Name=ZEB1_(SC-25388) Name=16 NA rs2269529 0.28 0.28 0.243 0.294129 0.2078 0.5952 0.2118 0.0431 0.4703 0.19 0.62 0.22 0.09 0.2584 0.62 0.04 D 0.042 B 0.041 B 0.000 N 0.000 P 0.645 N -1.05 T -0.911 T 0.000 T 0.044 0.253 5.367 4.47 1.013 4.186 11.675 0.25298 NA 0.02 0.19814 0.072401 NA 0.188 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=MYH9_related_disorders|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000032225.1|RCV000037563.1;CLNDSDB=GeneReviews:MedGen|.;CLNDSDBID=NBK2689:CN073381|. 14.6689934 222 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 222 1 881918 881918 G A exonic NOC2L NA nonsynonymous SNV NOC2L:NM_015658:exon15:c.C1667T:p.S556L exonic ENSG00000188976 NA nonsynonymous SNV ENSG00000188976:ENST00000327044:exon15:c.C1667T:p.S556L Score=624;Name=lod=456 NA 1p36.33 NA NA NA NA rs35471880 0.03 0.03 0.019 0.029353 0.0567 NA 0.0259 0.0038 0.0685 0.06 NA 0.03 0.01 0.047 0.062 0.03 D 0.81 P 0.183 B 0.000 D 0.999 D 1.655 L 0.92 T -1.137 T 0.012 T 0.163 2.503 14.33 4.09 1.097 7.449 12.671 2.503226 2.503226 0.05 0.061628 0.01498 NA 0.007 NA 14.6680054 223 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 223 2 74274329 74274329 C T exonic TET3 NA nonsynonymous SNV TET3:NM_144993:exon1:c.C880T:p.P294S exonic ENSG00000187605 NA nonsynonymous SNV ENSG00000187605:ENST00000409262:exon1:c.C880T:p.P294S,ENSG00000187605:ENST00000305799:exon3:c.C1006T:p.P336S Score=265;Name=lod=16 NA 2p13.1 Score=781;Name=V$PPARG_03 NA NA NA rs61741171 0.03 0.03 0.026 0.024361 0.0755 NA 0.049 0.0015 0.0102 0.07 NA 0.05 NA 0.0428 0.07 0.18 T 0.976 D 0.761 P . . 0.998 D 0.345 N 2.56 T -1.156 T 0.009 T 0.109 1.995 12.63 5.84 2.768 2.996 18.899 1.995278 1.995278 0.19 0.057163 0.010659 NA 0.007 NA 14.6578704 224 9 73150984 73150984 C T exonic TRPM3 NA nonsynonymous SNV TRPM3:NM_206944:exon24:c.G4520A:p.R1507Q,TRPM3:NM_001007471:exon25:c.G5009A:p.R1670Q,TRPM3:NM_020952:exon25:c.G4550A:p.R1517Q,TRPM3:NM_206945:exon25:c.G4556A:p.R1519Q,TRPM3:NM_206947:exon25:c.G4595A:p.R1532Q,TRPM3:NM_024971:exon26:c.G4586A:p.R1529Q,TRPM3:NM_206946:exon26:c.G4625A:p.R1542Q exonic ENSG00000083067 NA nonsynonymous SNV ENSG00000083067:ENST00000358082:exon23:c.G4595A:p.R1532Q,ENSG00000083067:ENST00000396280:exon23:c.G4556A:p.R1519Q,ENSG00000083067:ENST00000396285:exon23:c.G4586A:p.R1529Q,ENSG00000083067:ENST00000396292:exon24:c.G4625A:p.R1542Q,ENSG00000083067:ENST00000408909:exon24:c.G4586A:p.R1529Q,ENSG00000083067:ENST00000357533:exon25:c.G5021A:p.R1674Q,ENSG00000083067:ENST00000360823:exon25:c.G4595A:p.R1532Q,ENSG00000083067:ENST00000377110:exon25:c.G5009A:p.R1670Q,ENSG00000083067:ENST00000377105:exon26:c.G4586A:p.R1529Q,ENSG00000083067:ENST00000377106:exon26:c.G4625A:p.R1542Q,ENSG00000083067:ENST00000423814:exon26:c.G5090A:p.R1697Q Score=642;Name=lod=540 NA 9q21.12 Score=796;Name=V$STAT5A_02 NA NA Score=68;Name=2428685_0_+_68 rs6560142 0.64 0.64 0.628 0.600839 0.5835 0.7937 0.5764 0.6278 0.4008 0.59 0.81 0.54 0.61 0.5787 0.81 0.25 T 0.998 D 0.986 D 0.000 D 0.000 P 0.695 N 0.36 T -0.995 T 0.000 T 0.741 4.765 26.7 5.77 2.729 7.487 19.998 4.765198 4.765198 0.16 0.551279 0.620744 NA 0.659 NA 14.6198544 224 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 225 9 131909736 131909736 C T exonic PPP2R4 NA nonsynonymous SNV PPP2R4:NM_001271832:exon9:c.C878T:p.S293L,PPP2R4:NM_178003:exon9:c.C839T:p.S280L,PPP2R4:NM_001193397:exon10:c.C860T:p.S287L,PPP2R4:NM_178000:exon10:c.C965T:p.S322L,PPP2R4:NM_021131:exon11:c.C965T:p.S322L,PPP2R4:NM_178001:exon11:c.C1070T:p.S357L exonic ENSG00000119383 NA nonsynonymous SNV ENSG00000119383:ENST00000414510:exon3:c.C179T:p.S60L,ENSG00000119383:ENST00000419582:exon3:c.C179T:p.S60L,ENSG00000119383:ENST00000423100:exon3:c.C179T:p.S60L,ENSG00000119383:ENST00000432651:exon3:c.C179T:p.S60L,ENSG00000119383:ENST00000434095:exon3:c.C179T:p.S60L,ENSG00000119383:ENST00000435132:exon3:c.C179T:p.S60L,ENSG00000119383:ENST00000347048:exon4:c.C308T:p.S103L,ENSG00000119383:ENST00000355007:exon9:c.C839T:p.S280L,ENSG00000119383:ENST00000357197:exon9:c.C878T:p.S293L,ENSG00000119383:ENST00000348141:exon10:c.C983T:p.S328L,ENSG00000119383:ENST00000393370:exon10:c.C965T:p.S322L,ENSG00000119383:ENST00000337738:exon11:c.C1070T:p.S357L,ENSG00000119383:ENST00000358994:exon11:c.C965T:p.S322L Score=243;Name=lod=13 NA 9q34.11 NA NA NA NA rs2480452 0.08 0.08 0.067 0.0792732 0.0666 0.1855 0.0375 0.0015 0.1176 0.06 0.19 0.05 0.0041 0.0808 0.19 0.03 D 0.994 D 0.788 P 0.003 N 0.000 P 1.955 M 1.94 T -1.099 T 0.000 T 0.162 5.642 36 4.26 1.168 4.088 12.751 5.642491 5.642491 0.01 0.07407 0.019746 NA 0.036 NA 14.6118634 225 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 225 6 143825104 143825104 G T exonic FUCA2 NA nonsynonymous SNV FUCA2:NM_032020:exon3:c.C698A:p.A233E exonic ENSG00000001036 NA nonsynonymous SNV ENSG00000001036:ENST00000002165:exon3:c.C698A:p.A233E Score=272;Name=lod=17 NA 6q24.2 NA NA NA NA rs11155297 0.13 0.13 0.12 0.0890575 0.2724 0.002 0.1268 0.0144 0.0644 0.28 0.0035 0.16 0.02 0.1855 0.28 0.5 T 0.999 D 0.995 D 0.000 D 0.000 P 2.525 M 0.47 T -0.700 T 0.216 T 0.307 2.698 14.98 3.81 1.346 7.638 11.825 2.698181 2.698181 0 0.265349 0.047435 ID=COSM1440900;OCCURENCE=1(large_intestine) 0.152 NA 14.6100844 225 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 225 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 225 4 77660299 77660299 T G exonic SHROOM3 NA nonsynonymous SNV SHROOM3:NM_020859:exon5:c.T973G:p.S325A exonic ENSG00000138771 NA nonsynonymous SNV ENSG00000138771:ENST00000296043:exon5:c.T973G:p.S325A Score=462;Name=lod=101 NA 4q21.1 Score=860;Name=V$ARP1_01 NA NA NA rs61999292 0.04 0.04 0.024 0.033147 0.0716 0.001 0.0548 0.0045 0.0501 0.08 NA 0.07 0.002 0.0631 0.093 0.23 T 0.952 P 0.444 B 0.000 D 0.765 N 1.955 M 0.91 T -1.111 T 0.006 T 0.063 2.141 13.12 3.75 1.168 2.673 10.162 2.141129 2.141129 0.5 0.092907 0.016568 NA NA NA 14.6057264 226 16 84256103 84256103 C T exonic KCNG4 NA nonsynonymous SNV KCNG4:NM_172347:exon3:c.G1280A:p.R427H exonic ENSG00000168418 NA nonsynonymous SNV ENSG00000168418:ENST00000308251:exon3:c.G1280A:p.R427H Score=552;Name=lod=234 NA 16q24.1 NA NA NA NA rs35649980 0.07 0.07 0.06 0.0640974 0.0855 0.1002 0.0375 0.0159 0.089 0.08 0.1 0.06 0.02 0.0757 0.1 0.05 D 0.891 P 0.382 B 0.000 D 1.000 D 0.915 L 0.91 T -1.178 T 0.004 T 0.343 4.771 26.8 5.61 2.631 4.934 18.627 4.7712 4.7712 NA 0.075465 0.023636 NA 0.065 NA 14.5966684 227 19 56467375 56467375 C T exonic NLRP8 NA nonsynonymous SNV NLRP8:NM_176811:exon3:c.C1951T:p.R651W exonic ENSG00000179709 NA nonsynonymous SNV ENSG00000179709:ENST00000291971:exon3:c.C1951T:p.R651W,ENSG00000179709:ENST00000590542:exon3:c.C1951T:p.R651W NA NA 19q13.43 NA Name=FOXA1_(C-20) Name=5 NA rs41481648 0.08 0.08 0.08 0.0958466 0.0825 0.0685 0.0605 0.1309 0.1155 0.07 0.07 0.07 0.13 0.0899 0.13 0.01 D 0.999 D 0.804 P . . 1.000 P 1.245 L -2.36 D -0.660 T 0.017 T 0.144 1.475 10.88 -3.03 -0.773 -1.670 6.628 1.474675 1.474675 0.05 0.080814 0.116205 NA 0.058 NA 14.5801194 228 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 228 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 229 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 230 11 8933064 8933064 G A exonic AKIP1 NA nonsynonymous SNV AKIP1:NM_001206646:exon2:c.G68A:p.R23K,AKIP1:NM_001206647:exon2:c.G68A:p.R23K,AKIP1:NM_001206648:exon2:c.G68A:p.R23K,AKIP1:NM_020642:exon2:c.G68A:p.R23K exonic ENSG00000166452 NA nonsynonymous SNV ENSG00000166452:ENST00000396648:exon1:c.G68A:p.R23K,ENSG00000166452:ENST00000525005:exon1:c.G68A:p.R23K,ENSG00000166452:ENST00000529876:exon1:c.G68A:p.R23K,ENSG00000166452:ENST00000529942:exon1:c.G53A:p.R18K,ENSG00000166452:ENST00000534147:exon1:c.G68A:p.R23K,ENSG00000166452:ENST00000299576:exon2:c.G68A:p.R23K,ENSG00000166452:ENST00000309357:exon2:c.G68A:p.R23K,ENSG00000166452:ENST00000309377:exon2:c.G68A:p.R23K,ENSG00000166452:ENST00000524577:exon2:c.G68A:p.R23K,ENSG00000166452:ENST00000534506:exon2:c.G68A:p.R23K Score=352;Name=lod=36 NA 11p15.4 NA Name=AP-2gamma,TAF1,Ini1,Pol2 Name=71 NA rs1133833 0.14 0.14 0.134 0.120607 0.2724 0.003 0.2104 0.0121 0.1687 0.28 0.0035 0.25 0.02 0.2509 0.28 0.12 T 0.996 D 0.987 D 0.084 N 0.991 P 2.3 M 1.53 T -1.080 T 0.000 T 0.262 2.719 15.05 2.09 0.793 1.461 4.590 2.718545 2.718545 0.11 0.256634 0.048864 NA 0.138 NA 14.5533994 230 4 88583135 88583135 A T exonic DMP1 NA nonsynonymous SNV DMP1:NM_001079911:exon5:c.A157T:p.S53C,DMP1:NM_004407:exon6:c.A205T:p.S69C exonic ENSG00000152592 NA nonsynonymous SNV ENSG00000152592:ENST00000282479:exon5:c.A157T:p.S53C,ENSG00000152592:ENST00000339673:exon6:c.A205T:p.S69C Score=304;Name=lod=23 NA 4q22.1 NA NA NA NA rs10019009 0.31 0.31 0.286 0.288938 0.2326 0.4256 0.3285 0.2625 0.2137 0.24 0.42 0.35 0.27 0.2813 0.42 0 D 1.0 D 0.966 D 0.000 D 0.818 P 1.7 L 0.37 T -0.951 T 0.000 T 0.193 2.133 13.09 4.14 2.045 2.418 9.467 2.132536 2.132536 0 0.266163 0.295506 NA 0.319 NA 14.5532704 230 22 50656428 50656428 G A exonic TUBGCP6 NA nonsynonymous SNV TUBGCP6:NM_020461:exon24:c.C5287T:p.R1763W exonic ENSG00000128159 NA nonsynonymous SNV ENSG00000128159:ENST00000425018:exon9:c.C1294T:p.R432W,ENSG00000128159:ENST00000248846:exon24:c.C5287T:p.R1763W Score=317;Name=lod=26 NA 22q13.33 Score=811;Name=V$MIF1_01 NA NA NA rs35381394 0.05 0.05 0.033 0.0439297 0.0974 0.004 0.0865 0.0068 0.0501 0.1 0.0017 0.07 0.02 0.0874 0.1 0.19 T 0.999 D 0.893 P 0.191 N 1.000 D 0 N 3.04 T -1.031 T 0.003 T 0.15 3.346 17.27 4.65 2.126 6.646 17.510 3.346269 3.346269 0 0.101031 0.024659 NA 0.043 NA 14.5475024 231 7 92733766 92733766 C A exonic SAMD9 NA nonsynonymous SNV SAMD9:NM_001193307:exon2:c.G1645T:p.V549L,SAMD9:NM_017654:exon3:c.G1645T:p.V549L exonic ENSG00000205413 NA nonsynonymous SNV ENSG00000205413:ENST00000446617:exon2:c.G1645T:p.V549L,ENSG00000205413:ENST00000379958:exon3:c.G1645T:p.V549L Score=265;Name=lod=16 NA 7q21.2 NA NA NA NA rs10279499 0.12 0.12 0.11 0.096845 0.0974 0.1359 0.0994 0.1195 0.0235 0.09 0.16 0.1 0.11 0.0908 0.16 0.01 D 0.982 D 0.489 P 0.000 U 0.265 P 2.32 M 2.29 T -1.058 T 0.000 T 0.215 1.149 9.68 3.37 1.147 3.695 11.089 1.14894 NA 0.01 0.102233 0.131866 NA 0.072 NA 14.5429004 232 11 5364450 5364450 A G exonic OR51B5 NA nonsynonymous SNV OR51B5:NM_001005567:exon5:c.T305C:p.I102T exonic ENSG00000242180 NA nonsynonymous SNV ENSG00000242180:ENST00000300773:exon1:c.T305C:p.I102T Score=259;Name=lod=15 NA 11p15.4 NA NA NA NA rs11036912 0.33 0.33 0.298 0.325679 0.4404 0.1796 0.4035 0.2595 0.3926 0.44 0.16 0.42 0.27 0.4139 0.45 0 D 0.991 D 0.881 P 0.000 D 0.000 P 2.78 M 3.99 T -0.910 T 0.000 T 0.256 3.514 17.95 4.76 2.017 2.296 13.295 3.513868 3.513868 0 0.447172 0.279191 NA 0.362 NA 14.5318614 232 1 156526387 156526387 C G exonic IQGAP3 NA nonsynonymous SNV IQGAP3:NM_178229:exon12:c.G1228C:p.V410L exonic ENSG00000183856 NA nonsynonymous SNV ENSG00000183856:ENST00000491900:exon11:c.G1099C:p.V367L,ENSG00000183856:ENST00000361170:exon12:c.G1228C:p.V410L Score=387;Name=lod=50 NA 1q23.1 Score=811;Name=V$HEN1_01 NA NA NA rs11264498 0.47 0.47 0.427 0.378195 0.6272 0.4286 0.5519 0.1407 0.2679 0.63 0.46 0.57 0.17 0.5376 0.64 0.01 D 0.994 D 0.97 D 0.000 D 0.000 P 1.805 L 2.62 T -1.148 T 0.066 T 0.326 4.362 23 5.54 2.589 5.769 18.056 4.361937 4.361937 0 0.638372 0.237177 NA 0.312 NA 14.5301614 233 3 38357961 38357961 C G exonic SLC22A14 NA nonsynonymous SNV SLC22A14:NM_004803:exon9:c.C1679G:p.P560R exonic ENSG00000144671 NA nonsynonymous SNV ENSG00000144671:ENST00000273173:exon9:c.C1679G:p.P560R,ENSG00000144671:ENST00000448498:exon10:c.C1679G:p.P560R NA NA 3p22.2 Score=969;Name=V$AREB6_04 NA NA NA rs240033 0.26 0.26 0.234 0.25599 0.2535 0.2599 0.2767 0.2504 0.2474 0.25 0.28 0.31 0.23 0.2725 0.32 0.03 D 1.0 D 0.999 D 0.000 D 1.000 P 2.94 M -1.32 T -1.143 T 0.000 T 0.345 1.949 12.47 2.39 0.699 2.693 6.019 1.948947 1.948947 0.1 0.283256 0.267817 NA 0.326 NA 14.5240774 233 7 100771717 100771717 G A exonic SERPINE1 NA nonsynonymous SNV SERPINE1:NM_000602:exon2:c.G43A:p.A15T exonic ENSG00000106366 NA nonsynonymous SNV ENSG00000106366:ENST00000223095:exon2:c.G43A:p.A15T,ENSG00000106366:ENST00000445463:exon2:c.G43A:p.A15T Score=361;Name=lod=39 NA 7q22.1 NA Name=Pol2(b),Pol2 Name=31 NA rs6092 0.07 0.07 0.073 0.0714856 0.0984 0.0972 0.0807 0.0023 0.1043 0.09 0.1 0.09 0.0041 0.0964 0.12 0.27 T 0.562 P 0.275 B 0.165 N 0.999 P 0 N -1.83 D -0.906 T 0.008 T 0.346 1.451 10.79 3.88 2.622 0.686 9.671 1.450758 1.450758 0.4 0.117209 0.022923 NA 0.13 CLINSIG=pathogenic;CLNDBN=Plasminogen_activator_inhibitor_type_1_deficiency;CLNREVSTAT=single;CLNACC=RCV000014541.23;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C2750067:613329:ORPHA465 14.5213244 233 3 129284818 129284818 A C exonic PLXND1 NA nonsynonymous SNV PLXND1:NM_015103:exon24:c.T4234G:p.L1412V exonic ENSG00000004399 NA nonsynonymous SNV ENSG00000004399:ENST00000324093:exon24:c.T4234G:p.L1412V,ENSG00000004399:ENST00000393239:exon24:c.T4234G:p.L1412V Score=533;Name=lod=196 NA 3q22.1 NA NA NA NA rs2625973 0.19 0.19 0.191 0.176717 0.3072 0.003 0.1859 0.2171 0.1605 0.3 0.0017 0.23 0.21 0.2239 0.3 0.01 D 1.0 D 0.998 D 0.000 D 0.000 P 2.215 M 2.34 T -1.040 T 0.000 T 0.382 2.191 13.28 2.2 0.500 1.715 9.437 2.191443 2.191443 0.16 0.282093 0.223332 NA 0.348 NA 14.5201404 233 6 41895150 41895150 G A exonic BYSL NA nonsynonymous SNV BYSL:NM_004053:exon2:c.G307A:p.E103K exonic ENSG00000112578 NA nonsynonymous SNV ENSG00000112578:ENST00000230340:exon2:c.G307A:p.E103K,ENSG00000112578:ENST00000489290:exon2:c.G307A:p.E103K Score=525;Name=lod=181 NA 6p21.1 NA NA NA NA rs2296916 0.08 0.08 0.085 0.0758786 0.0974 0.1478 0.0389 0.0038 0.1033 0.11 0.15 0.04 0.01 0.1079 0.15 0.02 D 0.856 P 0.161 B 0.000 D 0.000 P 2.275 M 1.98 T -1.016 T 0.035 T 0.244 5.362 34 4.62 2.124 9.177 17.072 5.361981 5.361981 0.03 0.108488 0.017249 NA 0.029 NA 14.5195454 234 6 74155346 74155346 G T exonic MB21D1 NA nonsynonymous SNV MB21D1:NM_138441:exon2:c.C782A:p.P261H exonic ENSG00000164430 NA nonsynonymous SNV ENSG00000164430:ENST00000370315:exon2:c.C782A:p.P261H,ENSG00000164430:ENST00000370318:exon2:c.C782A:p.P261H Score=309;Name=lod=24 NA 6q13 NA NA NA NA rs610913 0.51 0.51 0.506 0.502796 0.6441 0.502 0.389 0.3691 0.6196 0.63 0.52 0.43 0.39 0.5605 0.63 0.01 D 1.0 D 0.988 D 0.001 D 0.481 P 2.43 M 3.18 T -1.151 T 0.046 T 0.317 1.834 12.09 5.09 2.525 1.979 11.490 1.833903 1.833903 0.01 0.621304 0.401591 NA 0.645 NA 14.5074294 235 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=ZNF274,Pol2,TAF1,CtBP2,CCNT2,TBP,SUZ12 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 235 22 51009953 51009953 C T exonic CPT1B NA nonsynonymous SNV CPT1B:NM_001145134:exon13:c.G1489A:p.E497K,CPT1B:NM_001145137:exon13:c.G1591A:p.E531K,CPT1B:NM_001145135:exon14:c.G1591A:p.E531K,CPT1B:NM_001145136:exon14:c.G1348A:p.E450K,CPT1B:NM_004377:exon14:c.G1591A:p.E531K,CPT1B:NM_152245:exon14:c.G1591A:p.E531K,CPT1B:NM_152246:exon14:c.G1591A:p.E531K exonic ENSG00000205560 NA nonsynonymous SNV ENSG00000205560:ENST00000405237:exon13:c.G1591A:p.E531K,ENSG00000205560:ENST00000457250:exon13:c.G1489A:p.E497K,ENSG00000205560:ENST00000312108:exon14:c.G1591A:p.E531K,ENSG00000205560:ENST00000360719:exon14:c.G1591A:p.E531K,ENSG00000205560:ENST00000395650:exon14:c.G1591A:p.E531K,ENSG00000205560:ENST00000440709:exon14:c.G1348A:p.E450K,ENSG00000205560:ENST00000434492:exon16:c.G976A:p.E326K Score=358;Name=lod=38 NA 22q13.33 NA NA NA NA rs470117 0.38 0.38 0.348 0.334864 0.4602 0.4593 0.4352 0.0915 0.3354 0.45 0.47 0.43 0.12 0.4204 0.47 0.15 T 0.966 D 0.503 P 0.000 D 0.000 P 2.155 M -2.46 D -1.118 T 0.000 T 0.541 3.386 17.42 5.31 2.768 2.827 16.511 3.385632 3.385632 0.05 0.457558 0.156378 NA 0.435 NA 14.4951754 236 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=Acenocoumarol maintenance dosage,Metabolite levels,Warfarin maintenance dose,Response to Vitamin E supplementation,Vitamin E 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 236 11 67402362 67402362 T G exonic TBX10 NA nonsynonymous SNV TBX10:NM_005995:exon3:c.A302C:p.K101T exonic ENSG00000167800 NA nonsynonymous SNV ENSG00000167800:ENST00000335385:exon3:c.A302C:p.K101T Score=529;Name=lod=189 NA 11q13.2 Score=845;Name=V$GATA1_02 NA NA NA rs3758938 0.24 0.24 0.203 0.217252 0.3042 0.131 0.4236 0.1626 0.1442 0.3 0.12 0.39 0.18 0.2569 0.39 0 D 0.999 D 0.986 D 0.000 D 0.074 P 1.605 L -2.3 D -1.097 T 0.000 T 0.293 2.237 13.44 1.7 0.039 7.595 8.572 2.237093 2.237093 0 0.293433 0.173864 NA 0.304 NA 14.4788004 236 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 237 11 68831364 68831364 G A exonic TPCN2 NA nonsynonymous SNV TPCN2:NM_139075:exon7:c.G655A:p.V219I exonic ENSG00000162341 NA nonsynonymous SNV ENSG00000162341:ENST00000294309:exon7:c.G655A:p.V219I,ENSG00000162341:ENST00000542467:exon7:c.G655A:p.V219I Score=349;Name=lod=35 NA 11q13.3 NA NA NA NA rs72928978 0.07 0.07 0.063 0.0397364 0.1402 0.005 0.0418 0.0045 0.0184 0.16 0.0017 0.06 0.01 0.0997 0.16 0.48 T 0.993 D 0.769 P 0.000 D 0.000 P 1.885 L -5.18 D -0.796 T 0.061 T 0.223 3.995 20.5 4.6 2.123 7.798 17.018 3.994884 3.994884 0.02 0.118537 0.022045 NA 0.072 NA 14.4748964 237 11 61908440 61908440 T C exonic INCENP NA nonsynonymous SNV INCENP:NM_001040694:exon10:c.T1517C:p.M506T,INCENP:NM_020238:exon10:c.T1517C:p.M506T exonic ENSG00000149503 NA nonsynonymous SNV ENSG00000149503:ENST00000278849:exon10:c.T1517C:p.M506T,ENSG00000149503:ENST00000394818:exon10:c.T1517C:p.M506T Score=509;Name=lod=156 NA 11q12.3 Score=864;Name=V$TAL1BETAITF2_01 NA NA NA rs2277283 0.2 0.2 0.199 0.170327 0.3002 0.0744 0.1916 0.1498 0.1483 0.32 0.07 0.22 0.16 0.2489 0.32 0.21 T 0.999 D 0.99 D 0.000 D 0.000 P 1.79 L 1.05 T -1.040 T 0.000 T 0.321 2.803 15.33 5.46 2.081 6.826 13.501 2.802715 2.802715 0 0.310537 0.176431 NA 0.181 NA 14.4736964 237 11 34969112 34969112 A G exonic PDHX NA nonsynonymous SNV PDHX:NM_001135024:exon3:c.A256G:p.T86A,PDHX:NM_001166158:exon3:c.A301G:p.T101A,PDHX:NM_003477:exon3:c.A301G:p.T101A exonic ENSG00000110435 NA nonsynonymous SNV ENSG00000110435:ENST00000533262:exon2:c.A220G:p.T74A,ENSG00000110435:ENST00000227868:exon3:c.A301G:p.T101A,ENSG00000110435:ENST00000430469:exon3:c.A301G:p.T101A,ENSG00000110435:ENST00000448838:exon3:c.A256G:p.T86A,ENSG00000110435:ENST00000533550:exon3:c.A121G:p.T41A Score=500;Name=lod=143 NA 11p13 Score=830;Name=V$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 237 4 126372742 126372742 G A exonic FAT4 NA nonsynonymous SNV FAT4:NM_024582:exon9:c.G10571A:p.G3524D exonic ENSG00000196159 NA nonsynonymous SNV ENSG00000196159:ENST00000335110:exon9:c.G5465A:p.G1822D,ENSG00000196159:ENST00000394329:exon9:c.G10571A:p.G3524D Score=358;Name=lod=38 NA 4q28.1 NA NA NA NA rs1567047 0.26 0.26 0.233 0.230631 0.2952 0.3909 0.2522 0.0242 0.2628 0.29 0.39 0.3 0.03 0.2673 0.39 0.02 D 1.0 D 1.0 D 0.005 U 0.000 P 2.38 M 0.59 T -1.086 T 0.000 T 0.389 4.436 23.6 5.77 2.724 9.666 19.998 4.435957 4.435957 0.06 0.299767 0.066273 NA 0.13 NA 14.4710664 238 2 237103697 237103697 G T exonic ASB18 NA nonsynonymous SNV ASB18:NM_212556:exon6:c.C1219A:p.H407N exonic ENSG00000182177 NA nonsynonymous SNV ENSG00000182177:ENST00000330842:exon5:c.C1132A:p.H378N,ENSG00000182177:ENST00000409749:exon6:c.C1219A:p.H407N Score=284;Name=lod=19 NA 2q37.2 NA NA NA NA rs10177957 0.09 0.09 0.087 0.108427 0.1352 0.002 0.0735 0.1732 0.1278 0.14 NA 0.09 0.13 0.1228 0.16 0.03 D 0.964 D 0.71 P . . 0.000 P 2.63 M 1.15 T -1.028 T 0.001 T 0.177 3.561 18.15 3.73 2.411 3.588 11.276 3.561021 3.561021 0 0.114306 0.156621 NA 0.13 NA 14.4610274 238 3 37053568 37053568 A G exonic MLH1 NA nonsynonymous SNV MLH1:NM_000249:exon8:c.A655G:p.I219V,MLH1:NM_001167617:exon8:c.A361G:p.I121V,MLH1:NM_001258271:exon8:c.A655G:p.I219V exonic ENSG00000076242 NA nonsynonymous SNV ENSG00000076242:ENST00000231790:exon8:c.A655G:p.I219V,ENSG00000076242:ENST00000435176:exon8:c.A361G:p.I121V Score=558;Name=lod=247 NA 3p22.2 Score=906;Name=V$YY1_01 NA NA NA rs1799977 0.17 0.17 0.159 0.129593 0.325 0.0258 0.1686 0.0386 0.1309 0.34 0.03 0.2 0.06 0.2325 0.34 0.62 T 0.018 B 0.074 B 0.000 D 0.000 P 0.78 N -1.74 D -1.077 T 0.000 T 0.517 2.408 14.01 4.61 2.209 2.446 7.484 2.408011 2.408011 0.27 0.320233 0.092147 ID=COSM1131469;OCCURENCE=1(prostate) 0.217 CLINSIG=non-pathogenic;CLNDBN=Lynch_syndrome,Lynch_syndrome|not_provided|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=exp,exp|single|mult|single;CLNACC=RCV000075795.1,RCV000030230.2|RCV000034548.1|RCV000035355.3|RCV000131385.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT,GeneReviews:MedGen:SNOMED_CT|.|.|MedGen;CLNDSDBID=NBK1211:C0009405:315058005,NBK1211:C0009405:315058005|.|.|C0027672 14.4556004 239 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 240 1 203194186 203194186 C T exonic CHIT1 NA nonsynonymous SNV CHIT1:NM_001270509:exon4:c.G304A:p.G102S,CHIT1:NM_003465:exon4:c.G304A:p.G102S exonic ENSG00000133063 NA nonsynonymous SNV ENSG00000133063:ENST00000367229:exon4:c.G304A:p.G102S,ENSG00000133063:ENST00000491855:exon4:c.G304A:p.G102S,ENSG00000133063:ENST00000503786:exon4:c.G304A:p.G102S Score=444;Name=lod=85 NA 1q32.1 NA NA NA NA rs2297950 0.3 0.3 0.292 0.290935 0.3231 0.2847 0.3271 0.2738 0.2618 0.32 0.3 0.29 0.29 0.3023 0.32 0 D 1.0 D 0.999 D 0.000 D 0.000 P 1.715 L 3.81 T -0.942 T 0.000 T 0.68 3.985 20.4 2.59 0.319 4.997 7.755 3.985328 3.985328 0 0.293256 0.269632 ID=COSM146738;OCCURENCE=1(stomach) 0.239 CLINSIG=pathogenic;CLNDBN=Chitotriosidase_deficiency;CLNREVSTAT=single;CLNACC=RCV000010134.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3279902:614122 14.4146774 240 3 161221705 161221705 A C exonic OTOL1 NA nonsynonymous SNV OTOL1:NM_001080440:exon4:c.A1409C:p.E470A exonic ENSG00000182447 NA nonsynonymous SNV ENSG00000182447:ENST00000327928:exon4:c.A1409C:p.E470A Score=539;Name=lod=206 NA 3q26.1 Score=973;Name=V$NFAT_Q6 NA NA NA rs3921595 0.43 0.43 0.448 0.492612 0.4662 0.2708 0.4222 0.6475 0.589 0.45 0.24 0.44 0.6 0.4824 0.66 0.02 D 0.979 D 0.628 P 0.000 D 0.902 P 1.445 L -2.75 D -0.934 T 0.000 T 0.167 2.517 14.38 2.86 0.323 5.600 8.76 2.516747 2.516747 0.03 0.470876 0.601686 NA 0.587 NA 14.4138574 241 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 242 7 113518434 113518434 C A exonic PPP1R3A NA nonsynonymous SNV PPP1R3A:NM_002711:exon4:c.G2713T:p.D905Y exonic ENSG00000154415 NA nonsynonymous SNV ENSG00000154415:ENST00000284601:exon4:c.G2713T:p.D905Y Score=272;Name=lod=17 NA 7q31.1 NA NA NA NA rs1799999 0.29 0.29 0.254 0.308706 0.1153 0.6409 0.2046 0.1793 0.4141 0.12 0.69 0.22 0.15 0.2191 0.69 0.01 D 0.976 D 0.72 P 0.025 N 0.836 P 1.78 L 2.05 T -0.998 T 0.000 T 0.447 1.893 12.29 5.64 2.646 3.209 11.640 1.893032 1.893032 0 0.104908 0.194734 NA 0.196 CLINSIG=other;CLNDBN=Insulin_resistance\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000009243.1;CLNDSDB=MedGen;CLNDSDBID=C1852091 14.3940254 243 11 56128081 56128081 A G exonic OR8J1 NA nonsynonymous SNV OR8J1:NM_001005205:exon1:c.A359G:p.Y120C exonic ENSG00000172487 NA nonsynonymous SNV ENSG00000172487:ENST00000303039:exon1:c.A359G:p.Y120C Score=503;Name=lod=147 NA 11q12.1 Score=848;Name=V$HNF4_01_B NA NA NA rs10896290 0.24 0.24 0.255 0.220248 0.328 0.1369 0.1873 0.2542 0.1728 0.34 0.15 0.19 0.23 0.2798 0.34 0.01 D 0.108 B 0.109 B 0.000 D 0.590 P 3.185 M 7.03 T -0.963 T 0.000 T 0.388 1.863 12.19 4.76 1.910 3.624 13.374 1.863321 1.863321 0.03 0.342062 0.281236 ID=COSM1180651;OCCURENCE=1(upper_aerodigestive_tract) 0.203 NA 14.3834714 244 16 57949224 57949224 G T exonic CNGB1 NA nonsynonymous SNV CNGB1:NM_001297:exon23:c.C2233A:p.L745I exonic ENSG00000070729 NA nonsynonymous SNV ENSG00000070729:ENST00000251102:exon23:c.C2233A:p.L745I,ENSG00000070729:ENST00000564448:exon23:c.C2215A:p.L739I Score=440;Name=lod=82 NA 16q21 NA NA NA NA rs10459809 0.11 0.11 0.104 0.0922524 0.17 0.0139 0.1066 0.1036 0.0675 0.18 0.01 0.13 0.09 0.1351 0.18 0.33 T 0.46 P 0.298 B 0.000 D 0.000 P 1.48 L -4.22 D -0.886 T 0.013 T 0.353 2.095 12.96 5.56 2.608 6.299 18.513 2.095322 2.095322 0.21 0.154952 0.10647 NA 0.072 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079630.1|RCV000086948.1;CLNDSDB=.|.;CLNDSDBID=.|. 14.3732814 245 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 245 12 52866060 52866060 C T exonic KRT6C NA nonsynonymous SNV KRT6C:NM_173086:exon2:c.G545A:p.R182Q exonic ENSG00000170465 NA nonsynonymous SNV ENSG00000170465:ENST00000252250:exon2:c.G545A:p.R182Q Score=363;Name=lod=40 NA 12q13.13 NA NA NA NA rs11608915 0.38 0.38 0.347 0.400559 0.4682 0.506 0.3271 0.1997 0.546 0.47 0.42 0.33 0.23 0.5144 0.49 0.03 D 0.998 D 0.899 P 0.000 D 0.002 P 2.93 M -2.97 D -1.273 T 0.000 T 0.273 3.412 17.53 2.12 0.814 5.704 11.195 3.412329 3.412329 0.05 0.491739 0.253975 NA 0.232 NA 14.3589944 246 5 76171252 76171252 A C exonic S100Z NA nonsynonymous SNV S100Z:NM_130772:exon3:c.A68C:p.E23A exonic ENSG00000171643 NA nonsynonymous SNV ENSG00000171643:ENST00000317593:exon3:c.A68C:p.E23A,ENSG00000171643:ENST00000513010:exon3:c.A68C:p.E23A Score=462;Name=lod=101 NA 5q13.3 NA Name=IRF4_(M-17),JunD,PU.1 Name=67 NA rs1320308 0.62 0.62 0.577 0.552716 0.6958 0.5615 0.6628 0.5741 0.2894 0.69 0.51 0.69 0.58 0.6166 0.69 0.08 T 1.0 D 0.986 D 0.000 D 0.000 P . . 2.7 T -1.003 T 0.000 T 0.12 3.312 17.13 5.58 2.118 5.881 15.418 3.311833 3.311833 0.02 0.675271 0.5727 NA 0.478 NA 14.3456624 246 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 247 12 53189696 53189696 C G exonic KRT3 NA nonsynonymous SNV KRT3:NM_057088:exon1:c.G131C:p.G44A exonic ENSG00000186442 NA nonsynonymous SNV ENSG00000186442:ENST00000309505:exon1:c.G131C:p.G44A,ENSG00000186442:ENST00000417996:exon1:c.G131C:p.G44A Score=243;Name=lod=13 NA 12q13.13 NA NA NA NA rs28721426 0.15 0.15 0.167 0.138379 0.163 0.002 0.1167 0.2943 0.0583 0.16 NA 0.12 0.3 0.1478 0.3 0.21 T 0.998 D 0.89 P 0.000 D 0.282 P 0.86 L -3.28 D -1.319 T 0.000 T 0.193 0.873 8.538 4.94 2.460 4.308 16.049 0.872561 NA 0.17 0.179344 0.266228 NA 0.188 NA 14.3431894 247 15 65235776 65235776 A G exonic ANKDD1A NA nonsynonymous SNV ANKDD1A:NM_182703:exon11:c.A1063G:p.K355E exonic ENSG00000166839 NA nonsynonymous SNV ENSG00000166839:ENST00000395723:exon8:c.A790G:p.K264E,ENSG00000166839:ENST00000487867:exon8:c.A790G:p.K264E,ENSG00000166839:ENST00000357698:exon11:c.A1063G:p.K355E,ENSG00000166839:ENST00000380230:exon11:c.A1063G:p.K355E,ENSG00000166839:ENST00000395720:exon11:c.A1063G:p.K355E Score=429;Name=lod=74 NA 15q22.31 Score=968;Name=V$GATA6_01 NA NA NA rs34988193 0.22 0.22 0.203 0.246206 0.336 0.127 0.232 0.1263 0.4489 0.32 0.13 0.23 0.15 0.3165 0.35 0.2 T 0.999 D 0.958 D 0.000 D 0.000 P 1.16 L 2.38 T -0.921 T 0.000 T 0.484 4.071 20.9 4.27 1.046 8.227 11.473 4.071106 4.071106 0.01 0.345545 0.171889 ID=COSM1129152;OCCURENCE=1(prostate) 0.152 NA 14.3352884 248 5 137500665 137500665 G A exonic BRD8 NA nonsynonymous SNV BRD8:NM_001164326:exon12:c.C1478T:p.T493M,BRD8:NM_139199:exon12:c.C1469T:p.T490M,BRD8:NM_006696:exon13:c.C1688T:p.T563M exonic ENSG00000112983 NA nonsynonymous SNV ENSG00000112983:ENST00000506167:exon2:c.C425T:p.T142M,ENSG00000112983:ENST00000455658:exon11:c.C1346T:p.T449M,ENSG00000112983:ENST00000254900:exon12:c.C1469T:p.T490M,ENSG00000112983:ENST00000402931:exon12:c.C1469T:p.T490M,ENSG00000112983:ENST00000411594:exon12:c.C1478T:p.T493M,ENSG00000112983:ENST00000418329:exon12:c.C1463T:p.T488M,ENSG00000112983:ENST00000230901:exon13:c.C1688T:p.T563M,ENSG00000112983:ENST00000454473:exon13:c.C1556T:p.T519M Score=533;Name=lod=195 NA 5q31.2 Score=862;Name=V$STAT5A_01 NA NA NA rs11750814 0.1 0.1 0.106 0.116613 0.173 0.0159 0.098 0.0582 0.2546 0.18 0.01 0.1 0.06 0.152 0.18 0.03 D 0.993 D 0.459 P 0.128 N 0.009 P 0 N 1.88 T -1.052 T 0.000 T 0.161 3.526 18 5.55 2.894 4.899 18.684 3.525817 3.525817 0.01 0.173953 0.082388 NA 0.196 NA 14.3343804 248 4 99325652 99325652 G C exonic RAP1GDS1 NA nonsynonymous SNV RAP1GDS1:NM_001100430:exon5:c.G389C:p.S130T,RAP1GDS1:NM_001100428:exon6:c.G518C:p.S173T,RAP1GDS1:NM_001100429:exon6:c.G515C:p.S172T,RAP1GDS1:NM_001100426:exon7:c.G665C:p.S222T,RAP1GDS1:NM_001100427:exon7:c.G662C:p.S221T,RAP1GDS1:NM_021159:exon7:c.G665C:p.S222T exonic ENSG00000138698 NA nonsynonymous SNV ENSG00000138698:ENST00000264572:exon5:c.G389C:p.S130T,ENSG00000138698:ENST00000514122:exon5:c.G389C:p.S130T,ENSG00000138698:ENST00000380158:exon6:c.G518C:p.S173T,ENSG00000138698:ENST00000408900:exon6:c.G515C:p.S172T,ENSG00000138698:ENST00000339360:exon7:c.G665C:p.S222T,ENSG00000138698:ENST00000408927:exon7:c.G662C:p.S221T,ENSG00000138698:ENST00000453712:exon7:c.G665C:p.S222T Score=687;Name=lod=823 NA 4q23 Score=892;Name=V$FOXD3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48 T 0.224 B 0.076 B 0.003 N 0.987 D 0.69 N 1.06 T -1.067 T 0.059 T 0.26 1.891 12.28 4.85 2.741 4.579 7.001 1.891107 1.891107 0.22 NA NA NA NA NA 14.3333334 248 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 248 17 80011813 80011813 C A exonic GPS1 NA nonsynonymous SNV GPS1:NM_004127:exon3:c.C196A:p.H66N,GPS1:NM_212492:exon3:c.C316A:p.H106N exonic ENSG00000169727 NA nonsynonymous SNV ENSG00000169727:ENST00000306823:exon3:c.C196A:p.H66N,ENSG00000169727:ENST00000392358:exon3:c.C316A:p.H106N,ENSG00000169727:ENST00000578552:exon3:c.C196A:p.H66N,ENSG00000169727:ENST00000580716:exon3:c.C148A:p.H50N,ENSG00000169727:ENST00000582327:exon3:c.C148A:p.H50N,ENSG00000169727:ENST00000583009:exon3:c.C316A:p.H106N,ENSG00000169727:ENST00000585084:exon3:c.C148A:p.H50N,ENSG00000169727:ENST00000320548:exon4:c.C148A:p.H50N,ENSG00000169727:ENST00000355130:exon4:c.C316A:p.H106N,ENSG00000169727:ENST00000581418:exon4:c.C148A:p.H50N,ENSG00000169727:ENST00000581578:exon4:c.C148A:p.H50N,ENSG00000169727:ENST00000583641:exon4:c.C400A:p.H134N,ENSG00000169727:ENST00000583885:exon4:c.C397A:p.H133N,ENSG00000169727:ENST00000583961:exon4:c.C316A:p.H106N Score=663;Name=lod=662 NA 17q25.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.34 T 0.905 P 0.561 P . . 0.992 D 1.375 L . . -0.817 T 0.203 T 0.329 2.857 15.52 4.47 2.278 6.934 17.295 2.857426 2.857426 0.16 NA NA NA NA NA 14.3333334 248 1 202731846 202731846 G T exonic KDM5B NA nonsynonymous SNV KDM5B:NM_006618:exon7:c.C899A:p.S300Y exonic ENSG00000117139 NA nonsynonymous SNV ENSG00000117139:ENST00000235790:exon7:c.C425A:p.S142Y,ENSG00000117139:ENST00000367265:exon7:c.C899A:p.S300Y,ENSG00000117139:ENST00000367264:exon8:c.C1007A:p.S336Y Score=507;Name=lod=154 NA 1q32.1 NA NA NA NA rs373039357 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008239 0.0002 0.03 D 0.001 B 0.004 B 0.684 N 0.734 N 1.39 L -1.82 D -0.226 T 0.567 D 0.117 -0.376 2.23 5.46 2.554 4.619 17.493 -0.376324 NA 0.13 0 0.000227 NA NA NA 14.3333252 248 2 220161785 220161785 G C exonic PTPRN NA nonsynonymous SNV PTPRN:NM_001199763:exon14:c.C2071G:p.Q691E,PTPRN:NM_001199764:exon15:c.C1888G:p.Q630E,PTPRN:NM_002846:exon15:c.C2158G:p.Q720E exonic ENSG00000054356 NA nonsynonymous SNV ENSG00000054356:ENST00000409251:exon14:c.C2071G:p.Q691E,ENSG00000054356:ENST00000295718:exon15:c.C2158G:p.Q720E,ENSG00000054356:ENST00000423636:exon15:c.C1888G:p.Q630E Score=619;Name=lod=439 NA 2q35 NA NA Name=2 NA rs200950374 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00007424 NA 0.22 T 0.074 B 0.037 B 0.000 D 1.000 D 0.345 N 2.57 T -1.032 T 0.024 T 0.668 2.664 14.87 4.31 2.224 9.095 16.592 2.663613 2.663613 0 NA NA NA NA NA 14.3332592 248 1 16464653 16464653 G C exonic EPHA2 NA nonsynonymous SNV EPHA2:NM_004431:exon5:c.C1007G:p.T336R exonic ENSG00000142627 NA nonsynonymous SNV ENSG00000142627:ENST00000358432:exon5:c.C1007G:p.T336R Score=401;Name=lod=57 NA 1p36.13 NA NA NA NA rs146085387 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0005 0 D 0.938 P 0.589 P 0.010 N 1.000 D 1.185 L 0.39 T -0.766 T 0.175 T 0.708 2.984 15.95 4.97 2.488 1.108 16.109 2.983626 2.983626 0 0.000465 0 NA NA NA 14.3327684 248 14 72055745 72055745 A G exonic SIPA1L1 NA nonsynonymous SNV SIPA1L1:NM_015556:exon2:c.A1156G:p.M386V exonic ENSG00000197555 NA nonsynonymous SNV ENSG00000197555:ENST00000358550:exon2:c.A1156G:p.M386V,ENSG00000197555:ENST00000381232:exon2:c.A1156G:p.M386V,ENSG00000197555:ENST00000555818:exon2:c.A1156G:p.M386V Score=443;Name=lod=84 NA 14q24.2 NA NA Name=3 NA rs147454458 0.0014 0.0014 0.003 0.00139776 NA 0.001 NA 0.003 0.002 NA NA NA 0.01 0.0006 0.01 0.52 T 0.017 B 0.037 B 0.000 D 1.000 D 0.69 N -0.89 T -0.802 T 0.189 T 0.495 1.369 10.5 6.07 2.326 3.885 16.641 1.368782 1.368782 0.1 0.000233 0.001135 NA NA NA 14.3325004 248 6 29408571 29408571 G T exonic OR10C1 NA nonsynonymous SNV OR10C1:NM_013941:exon1:c.G779T:p.R260L exonic ENSG00000206474 NA nonsynonymous SNV ENSG00000206474:ENST00000444197:exon1:c.G779T:p.R260L Score=325;Name=lod=28 NA 6p22.1 NA NA NA NA rs145984332 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0004 0.0006 0.03 D 1.0 D 0.996 D 0.026 N 1.000 N 2.335 M 1.24 T -1.012 T 0.139 T 0.443 2.951 15.84 3.35 1.716 -0.150 12.275 2.951306 2.951306 0 0.000554 0.000331 NA NA NA 14.3323794 248 7 151800292 151800292 A G exonic GALNT11 NA nonsynonymous SNV GALNT11:NM_022087:exon4:c.A515G:p.H172R exonic ENSG00000178234 NA nonsynonymous SNV ENSG00000178234:ENST00000422997:exon3:c.A391G:p.T131A,ENSG00000178234:ENST00000447778:exon3:c.A391G:p.T131A,ENSG00000178234:ENST00000452146:exon3:c.A272G:p.H91R,ENSG00000178234:ENST00000320311:exon4:c.A515G:p.H172R,ENSG00000178234:ENST00000419245:exon4:c.A515G:p.H172R,ENSG00000178234:ENST00000430044:exon4:c.A515G:p.H172R,ENSG00000178234:ENST00000415421:exon5:c.A515G:p.H172R,ENSG00000178234:ENST00000434507:exon6:c.A515G:p.H172R Score=474;Name=lod=113 NA 7q36.1 NA NA NA NA rs56099066 0 0 0.001 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0002 0.0008 0.07 T 0.998 D 0.959 D 0.000 D 1.000 N 1.99 M 0.39 T -0.896 T 0.185 T 0.888 4.143 21.4 3.85 0.754 9.262 10.530 4.143273 4.143273 0 0.000814 0 NA NA NA 14.3313194 248 16 88713236 88713236 A G exonic CYBA NA nonsynonymous SNV CYBA:NM_000101:exon4:c.T214C:p.Y72H exonic ENSG00000051523 NA nonsynonymous SNV ENSG00000051523:ENST00000261623:exon4:c.T214C:p.Y72H,ENSG00000051523:ENST00000566229:exon4:c.T203C:p.V68A,ENSG00000051523:ENST00000567174:exon4:c.T214C:p.Y72H,ENSG00000051523:ENST00000568278:exon4:c.T214C:p.Y72H,ENSG00000051523:ENST00000569359:exon4:c.T214C:p.Y72H Score=414;Name=lod=64 NA 16q24.3 NA Name=Pol2-4H8,EBF NA NA rs4673 0.7 0.7 0.686 0.664337 0.6581 0.9157 0.6931 0.4917 0.6247 0.66 0.94 0.65 0.5 0.6908 0.94 0.45 T 1.0 D 0.999 D 0.000 N 0.046 P 2.47 M -2.1 D -0.917 T 0.000 T 0.556 2.226 13.4 3.46 0.616 4.415 8.066 2.225798 2.225798 0.41 0.656512 0.55323 NA 0.558 CLINSIG=non-pathogenic;CLNDBN=CYBA_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000002351.1;CLNDSDB=.;CLNDSDBID=. 14.3279214 249 1 171168584 171168584 C T exonic FMO2 NA nonsynonymous SNV FMO2:NM_001460:exon5:c.C584T:p.S195L exonic ENSG00000094963 NA nonsynonymous SNV ENSG00000094963:ENST00000209929:exon5:c.C584T:p.S195L,ENSG00000094963:ENST00000441535:exon5:c.C584T:p.S195L Score=407;Name=lod=60 NA 1q24.3 Score=871;Name=V$IRF7_01 NA NA NA rs2020862 0.36 0.36 0.418 0.472843 0.2962 0.5456 0.4827 0.5265 0.5 0.25 0.48 0.38 0.39 0.396 0.49 0 D 0.238 B 0.366 B 0.000 D 0.000 P 4.705 H 0.18 T -0.027 T 0.470 T 0.36 4.283 22.4 6.17 2.941 5.980 19.651 4.283324 4.283324 0 0.320116 0.493418 ID=COSM146682;OCCURENCE=1(stomach) NA NA 14.3210174 249 11 6023762 6023762 C T exonic OR56A4 NA nonsynonymous SNV OR56A4:NM_001005179:exon1:c.G617A:p.R206Q exonic ENSG00000183389 NA nonsynonymous SNV ENSG00000183389:ENST00000330728:exon1:c.G617A:p.R206Q NA NA 11p15.4 NA NA Name=8 NA rs17809527 0.0018 0.0018 0.002 0.00119808 0.005 NA 0.0014 NA NA 0.004 NA 0.0028 NA 0.0027 0.0048 0 D 0.875 P 0.499 P 0.004 U 0.949 N 3.015 M 1.2 T -0.830 T 0.145 T 0.244 2.17 13.21 3.59 1.981 2.639 8.353 2.170136 2.170136 0.01 0.004772 0.000909 NA NA NA 14.3208614 249 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=E2F6_(H-50),CTCF,Znf143_(16618-1-AP),CTCF_(C-20),CTCF_(SC-5916),Max,Rad21,c-Myc,CTCFL_(SC-98982),SMC3_(ab9263) 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 249 12 21624546 21624546 C G exonic RECQL NA nonsynonymous SNV RECQL:NM_002907:exon13:c.G1483C:p.D495H,RECQL:NM_032941:exon14:c.G1483C:p.D495H exonic ENSG00000004700 NA nonsynonymous SNV ENSG00000004700:ENST00000444129:exon13:c.G1483C:p.D495H,ENSG00000004700:ENST00000421138:exon14:c.G1483C:p.D495H Score=349;Name=lod=35 NA 12p12.1 NA NA NA NA rs6499 0.0032 0.0032 NA 0.00179712 0.006 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.0039 0.01 0.07 T 0.056 B 0.05 B 0.001 D 1.000 D 2.38 M 0.96 T -0.919 T 0.121 T 0.549 3.014 16.05 5.52 2.878 5.171 19.636 3.014338 3.014338 0.08 0.004884 0.001135 NA NA NA 14.3185494 249 7 82764393 82764393 C T exonic PCLO NA nonsynonymous SNV PCLO:NM_014510:exon3:c.G2473A:p.A825T,PCLO:NM_033026:exon3:c.G2473A:p.A825T exonic ENSG00000186472 NA nonsynonymous SNV ENSG00000186472:ENST00000333891:exon3:c.G2473A:p.A825T,ENSG00000186472:ENST00000423517:exon3:c.G2473A:p.A825T Score=449;Name=lod=89 NA 7q21.11 Score=724;Name=V$P53_01 NA NA NA rs61730164 0.01 0.01 NA 0.00239617 0.008 0.001 0.0029 NA 0.001 0.01 0.0017 0.01 NA 0.0056 0.01 0 D 0.091 B 0.027 B . . 1.000 D 0.895 L 2.36 T -1.082 T 0.022 T 0.059 2.195 13.3 3.65 2.799 1.278 8.755 2.194596 2.194596 0.02 0.002807 0.000535 NA NA NA 14.3169264 249 7 81588616 81588616 T G exonic CACNA2D1 NA nonsynonymous SNV CACNA2D1:NM_000722:exon38:c.A3134C:p.D1045A exonic ENSG00000153956 NA nonsynonymous SNV ENSG00000153956:ENST00000535308:exon10:c.A770C:p.D257A,ENSG00000153956:ENST00000356253:exon38:c.A3170C:p.D1057A,ENSG00000153956:ENST00000356860:exon38:c.A3134C:p.D1045A Score=624;Name=lod=458 NA 7q21.11 NA NA NA NA rs35131433 0.0032 0.0032 0.01 0.00179712 0.008 NA 0.0014 NA NA 0.01 NA NA NA 0.0028 0.011 0.23 T 0.423 B 0.228 B 0.000 D 1.000 D 2.19 M 0.09 T -0.785 T 0.174 T 0.757 2.854 15.51 5.84 2.227 5.653 16.213 2.854325 2.854325 0.08 0.006395 0.002497 NA 0.014 NA 14.3161384 250 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 250 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 250 10 13239651 13239651 A G exonic MCM10 NA nonsynonymous SNV MCM10:NM_018518:exon15:c.A2003G:p.K668R,MCM10:NM_182751:exon15:c.A2006G:p.K669R exonic ENSG00000065328 NA nonsynonymous SNV ENSG00000065328:ENST00000378694:exon14:c.A2003G:p.K668R,ENSG00000065328:ENST00000378714:exon15:c.A2003G:p.K668R,ENSG00000065328:ENST00000484800:exon15:c.A2006G:p.K669R Score=461;Name=lod=100 NA 10p13 Score=860;Name=V$COUP_01 NA NA NA rs2274110 0.12 0.12 0.082 0.109225 0.1948 0.1002 0.134 0.0129 0.1431 0.19 0.09 0.15 0.02 0.1418 0.19 0.16 T 0.98 D 0.85 P 0.000 D 0.000 P 1.84 L 2.2 T -1.141 T 0.000 T 0.152 4.705 26.1 5.33 2.145 7.021 15.624 4.704765 4.704765 0.07 0.186628 0.038811 ID=COSM146882;OCCURENCE=1(stomach) 0.138 NA 14.3101054 250 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 251 12 133257837 133257837 C A exonic POLE NA nonsynonymous SNV POLE:NM_006231:exon2:c.G91T:p.A31S exonic ENSG00000177084 NA nonsynonymous SNV ENSG00000177084:ENST00000320574:exon2:c.G91T:p.A31S,ENSG00000177084:ENST00000535270:exon2:c.G91T:p.A31S,ENSG00000177084:ENST00000537064:exon2:c.G91T:p.A31S Score=524;Name=lod=180 NA 12q24.33 Score=833;Name=V$PAX4_01 NA NA NA rs34047482 0.01 0.01 0.004 0.00878594 0.0129 NA 0.0331 NA 0.0082 0.01 NA 0.04 NA 0.0122 0.04 0.52 T 0.035 B 0.047 B 0.000 D 1.000 D 1.555 L 4.22 T -0.911 T 0.004 T 0.397 2.107 13 4.83 2.395 7.322 17.888 2.107027 2.107027 0.48 0.021977 0.004312 NA 0.072 NA 14.2862564 252 4 57843114 57843114 C G exonic NOA1 NA nonsynonymous SNV NOA1:NM_032313:exon1:c.G638C:p.G213A exonic ENSG00000084092 NA nonsynonymous SNV ENSG00000084092:ENST00000264230:exon1:c.G638C:p.G213A Score=445;Name=lod=86 NA 4q12 NA Name=Pol2,CTCF,CTCF_(SC-5916),c-Myc Name=34 NA rs200929636 0.01 0.01 NA 0.00638978 0.0209 NA 0.0058 0.0008 0.0061 0.03 NA 0.01 NA 0.0155 0.03 0.36 T 0.435 B 0.057 B 0.107 N 0.994 D 1.32 L 1.52 T -1.099 T 0.019 T 0.049 0.21 5.13 4.52 1.206 0.973 8.477 0.209587 NA 0.29 0.012836 0.002101 NA 0.007 NA 14.2840974 252 11 6340416 6340416 G A exonic PRKCDBP NA nonsynonymous SNV PRKCDBP:NM_145040:exon2:c.C763T:p.L255F exonic ENSG00000170955 NA nonsynonymous SNV ENSG00000170955:ENST00000303927:exon2:c.C763T:p.L255F,ENSG00000170955:ENST00000530979:exon3:c.C859T:p.L287F NA NA 11p15.4 NA Name=AP-2alpha,AP-2gamma,TBP,Pol2-4H8,TAF1,Pol2 Name=51 NA rs12294600 0.05 0.05 0.067 0.0561102 0.0129 NA 0.0216 0.1831 0.0112 0.01 NA 0.03 0.19 0.0267 0.19 0 D 0.852 P 0.452 P 0.780 N 0.989 P 0.805 L 1.2 T -1.081 T 0.000 T 0.192 2.531 14.42 5.12 2.401 3.170 14.066 2.53127 2.53127 0 0.012337 0.175829 NA 0.043 NA 14.2813964 252 19 7573098 7573098 T A exonic C19orf45 NA nonsynonymous SNV C19orf45:NM_198534:exon9:c.T1300A:p.Y434N exonic ENSG00000198723 NA nonsynonymous SNV ENSG00000198723:ENST00000361664:exon9:c.T1300A:p.Y434N Score=346;Name=lod=34 NA 19p13.2 Score=917;Name=V$MSX1_01 Name=Pol2,Pol2-4H8,c-Jun,eGFP-JunD,FOSL1_(SC-183),eGFP-FOS,c-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 252 3 19575232 19575232 C T exonic KCNH8 NA nonsynonymous SNV KCNH8:NM_144633:exon16:c.C2965T:p.P989S exonic ENSG00000183960 NA nonsynonymous SNV ENSG00000183960:ENST00000328405:exon16:c.C2965T:p.P989S Score=317;Name=lod=26 NA 3p24.3 NA NA NA NA rs34561654 0.01 0.01 0.008 0.00638978 0.0209 NA 0.0072 0.0015 0.0041 0.02 NA 0.01 0.0041 0.0131 0.02 . . 0.0 B 0.001 B 0.135 U 1.000 D 0.44 N -4.77 D 0.008 D 0.620 D 0.023 -1.029 0.22 3.09 1.048 0.860 2.446 -1.029365 NA 0.51 0.020233 0.004766 NA 0.007 NA 14.2791004 253 17 3101578 3101578 G T exonic OR1A2 NA nonsynonymous SNV OR1A2:NM_012352:exon1:c.G766T:p.G256C exonic ENSG00000172150 NA nonsynonymous SNV ENSG00000172150:ENST00000381951:exon1:c.G766T:p.G256C Score=259;Name=lod=15 NA 17p13.3 Score=688;Name=V$P53_01 NA NA NA rs2241091 0.33 0.33 0.275 0.28155 0.3509 0.5595 0.2853 0.0318 0.2587 0.35 0.55 0.33 0.03 0.3404 0.55 0 D 1.0 D 0.999 D 0.000 D 0.985 P 1.595 L 8.71 T -1.124 T 0.000 T 0.268 2.292 13.62 3.02 1.030 0.125 3.797 2.292025 2.292025 0.03 0.369535 0.094644 NA 0.29 NA 14.2724984 253 17 72540936 72540936 G A exonic CD300C NA nonsynonymous SNV CD300C:NM_006678:exon2:c.C212T:p.T71I exonic ENSG00000167850 NA nonsynonymous SNV ENSG00000167850:ENST00000330793:exon2:c.C212T:p.T71I NA NA 17q25.1 NA NA NA NA rs11870245 0.08 0.08 0.099 0.0990415 0.0119 NA 0.0389 0.3185 0.0368 0.01 NA 0.03 0.32 0.0395 0.32 0.03 D 1.0 D 0.996 D 0.010 N 1.000 P 2.79 M 3.63 T -0.998 T 0.000 T 0.192 2.558 14.51 3.36 1.147 2.711 8.908 2.557814 2.557814 0 0.01593 0.25261 NA 0.123 NA 14.2660034 254 11 85420401 85420401 G A exonic SYTL2 NA nonsynonymous SNV SYTL2:NM_032379:exon3:c.C299T:p.A100V,SYTL2:NM_206930:exon3:c.C266T:p.A89V,SYTL2:NM_001162952:exon4:c.C179T:p.A60V,SYTL2:NM_206928:exon6:c.C2939T:p.A980V,SYTL2:NM_206929:exon6:c.C299T:p.A100V,SYTL2:NM_206927:exon7:c.C2987T:p.A996V,SYTL2:NM_001162951:exon12:c.C1973T:p.A658V,SYTL2:NM_001162953:exon12:c.C1976T:p.A659V,SYTL2:NM_032943:exon13:c.C1901T:p.A634V exonic ENSG00000137501 NA nonsynonymous SNV ENSG00000137501:ENST00000389958:exon3:c.C266T:p.A89V,ENSG00000137501:ENST00000525702:exon3:c.C299T:p.A100V,ENSG00000137501:ENST00000529534:exon4:c.C299T:p.A100V,ENSG00000137501:ENST00000532995:exon4:c.C179T:p.A60V,ENSG00000137501:ENST00000533057:exon4:c.C71T:p.A24V,ENSG00000137501:ENST00000526999:exon5:c.C299T:p.A100V,ENSG00000137501:ENST00000527794:exon5:c.C179T:p.A60V,ENSG00000137501:ENST00000533892:exon5:c.C179T:p.A60V,ENSG00000137501:ENST00000359152:exon6:c.C4511T:p.A1504V,ENSG00000137501:ENST00000525423:exon6:c.C2939T:p.A980V,ENSG00000137501:ENST00000529581:exon6:c.C299T:p.A100V,ENSG00000137501:ENST00000530351:exon6:c.C1124T:p.A375V,ENSG00000137501:ENST00000354566:exon7:c.C2987T:p.A996V,ENSG00000137501:ENST00000524452:exon12:c.C1901T:p.A634V,ENSG00000137501:ENST00000528231:exon12:c.C1973T:p.A658V,ENSG00000137501:ENST00000316356:exon13:c.C1976T:p.A659V,ENSG00000137501:ENST00000389960:exon13:c.C1901T:p.A634V,ENSG00000137501:ENST00000527523:exon13:c.C1877T:p.A626V Score=573;Name=lod=283 NA 11q14.1 NA NA NA NA rs61740616 0.02 0.02 0.011 0.0135783 0.0239 0.004 0.0375 0.0008 0.0133 0.03 0.01 0.04 0.002 0.0248 0.04 . . 0.999 D 0.955 D 0.000 N 1.000 D 0.645 N -0.36 T -0.736 T 0.105 T 0.369 3.204 16.73 5.27 1.643 3.862 15.895 3.203882 3.203882 0.17 0.023261 0.004539 NA 0.007 NA 14.2613724 254 11 108409784 108409784 T A exonic EXPH5 NA nonsynonymous SNV EXPH5:NM_015065:exon3:c.A410T:p.E137V exonic ENSG00000110723 NA nonsynonymous SNV ENSG00000110723:ENST00000265843:exon3:c.A410T:p.E137V,ENSG00000110723:ENST00000428840:exon3:c.A182T:p.E61V,ENSG00000110723:ENST00000526312:exon3:c.A182T:p.E61V,ENSG00000110723:ENST00000531386:exon3:c.A182T:p.E61V,ENSG00000110723:ENST00000525344:exon4:c.A389T:p.E130V Score=399;Name=lod=56 NA 11q22.3 NA NA NA NA rs2640785 0.29 0.29 0.256 0.252396 0.17 0.5804 0.3501 0.0393 0.2178 0.18 0.62 0.31 0.06 0.2322 0.62 0 D 0.989 D 0.836 P 0.036 N 0.000 P 2.125 M 3.92 T -0.888 T 0.000 T 0.553 4.323 22.7 4.99 2.012 4.094 11.385 4.322784 4.322784 0 0.170079 0.063835 NA 0.174 NA 14.2610544 254 16 4445327 4445327 C T exonic CORO7,CORO7-PAM16 NA nonsynonymous SNV CORO7:NM_001201473:exon5:c.G323A:p.R108Q,CORO7:NM_001201472:exon7:c.G524A:p.R175Q,CORO7-PAM16:NM_001201479:exon7:c.G578A:p.R193Q,CORO7:NM_024535:exon7:c.G578A:p.R193Q exonic ENSG00000103426,ENSG00000262246 NA nonsynonymous SNV ENSG00000262246:ENST00000423908:exon2:c.G74A:p.R25Q,ENSG00000262246:ENST00000572044:exon2:c.G74A:p.R25Q,ENSG00000262246:ENST00000572549:exon2:c.G113A:p.R38Q,ENSG00000262246:ENST00000574311:exon2:c.G74A:p.R25Q,ENSG00000262246:ENST00000570645:exon5:c.G79A:p.G27R,ENSG00000262246:ENST00000571052:exon5:c.G79A:p.G27R,ENSG00000262246:ENST00000574025:exon5:c.G323A:p.R108Q,ENSG00000262246:ENST00000576437:exon5:c.G79A:p.G27R,ENSG00000262246:ENST00000251166:exon7:c.G578A:p.R193Q,ENSG00000262246:ENST00000537233:exon7:c.G524A:p.R175Q,ENSG00000262246:ENST00000571756:exon7:c.G517A:p.G173R,ENSG00000103426:ENST00000572467:exon7:c.G578A:p.R193Q,ENSG00000262246:ENST00000575850:exon7:c.G617A:p.R206Q,ENSG00000262246:ENST00000575038:exon8:c.G517A:p.G173R,ENSG00000103426:ENST00000575334:exon8:c.G578A:p.R193Q Score=428;Name=lod=73 NA 16p13.3 Score=883;Name=V$COUP_01 NA NA NA rs3747579 0.59 0.59 0.584 0.507388 0.7097 0.7817 0.5836 0.1172 0.4898 0.73 0.82 0.6 0.12 0.6499 0.82 0.04 D 0.998 D 0.988 D 0.043 N 0.000 P 2.75 M 4.88 T -0.967 T 0.000 T 0.574 3.487 17.84 4.17 2.135 1.096 11.864 3.487498 3.487498 0.04 0.715581 0.218707 ID=COSM435259;OCCURENCE=1(breast) 0.536 NA 14.2581524 255 16 27784497 27784497 G A exonic KIAA0556 NA nonsynonymous SNV KIAA0556:NM_015202:exon23:c.G4276A:p.E1426K exonic ENSG00000047578 NA nonsynonymous SNV ENSG00000047578:ENST00000261588:exon23:c.G4276A:p.E1426K Score=259;Name=lod=15 NA 16p12.1 NA NA NA NA rs117316062 0.01 0.01 0.018 0.00938498 0.0278 NA 0.0231 NA 0.0031 0.03 NA 0.02 NA 0.0213 0.03 0.38 T 0.865 P 0.488 P 0.000 D 0.998 D 1.555 L 2.55 T -1.113 T 0.017 T 0.172 2.601 14.66 4.89 2.254 5.062 17.655 2.600602 2.600602 NA 0.029419 0.007283 NA 0.022 NA 14.2548144 255 1 52838992 52838992 A G exonic ORC1 NA nonsynonymous SNV ORC1:NM_001190818:exon17:c.T2447C:p.M816T,ORC1:NM_001190819:exon17:c.T2432C:p.M811T,ORC1:NM_004153:exon17:c.T2447C:p.M816T exonic ENSG00000085840 NA nonsynonymous SNV ENSG00000085840:ENST00000371566:exon17:c.T2447C:p.M816T,ENSG00000085840:ENST00000371568:exon17:c.T2447C:p.M816T Score=458;Name=lod=97 NA 1p32.3 Score=868;Name=V$ATF6_01 NA NA NA rs34521609 0.01 0.01 0.007 0.00938498 0.0348 NA 0.0086 0.003 0.002 0.03 NA 0.01 0.0041 0.0205 0.03 0.58 T 0.025 B 0.05 B 0.007 N 0.987 D 0 N 1.1 T -1.081 T 0.022 T 0.124 1.379 10.54 5.18 2.162 8.155 15.179 1.378824 1.378824 0.02 0.024651 0.003858 NA NA CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117877.2;CLNDSDB=.;CLNDSDBID=. 14.2533824 255 9 126128253 126128253 G C exonic CRB2 NA nonsynonymous SNV CRB2:NM_173689:exon3:c.G476C:p.G159A exonic ENSG00000148204 NA nonsynonymous SNV ENSG00000148204:ENST00000359999:exon3:c.G476C:p.G159A,ENSG00000148204:ENST00000373631:exon3:c.G476C:p.G159A Score=527;Name=lod=185 NA 9q33.3 Score=781;Name=V$AHRARNT_02 NA NA NA rs1105222 0.32 0.32 0.319 0.315895 0.3728 0.3889 0.3314 0.1989 0.3292 0.38 0.34 0.37 0.18 0.3435 0.38 0.65 T 0.762 P 0.509 P 0.000 D 0.000 P 0.885 L -3.97 D -1.133 T 0.000 T 0.25 2.915 15.71 4.79 2.186 1.278 11.265 2.914538 2.914538 0.61 0.364252 0.206472 ID=COSM455327;OCCURENCE=1(breast) 0.196 NA 14.2527814 255 1 161130701 161130701 C T exonic USP21 NA nonsynonymous SNV USP21:NM_012475:exon2:c.C271T:p.P91S,USP21:NM_001014443:exon3:c.C271T:p.P91S exonic ENSG00000143258 NA nonsynonymous SNV ENSG00000143258:ENST00000289865:exon2:c.C271T:p.P91S,ENSG00000143258:ENST00000368001:exon2:c.C271T:p.P91S,ENSG00000143258:ENST00000368002:exon3:c.C271T:p.P91S Score=692;Name=lod=864 NA 1q23.3 NA NA NA NA rs34779722 0.01 0.01 0.012 0.00958466 0.0288 NA 0.0144 0.0015 0.0072 0.03 NA 0.01 NA 0.0213 0.033 0.09 T 1.0 D 0.992 D . . 0.974 D 0.345 N 0.84 T -0.873 T 0.129 T 0.262 4.038 20.7 5.14 2.666 4.503 17.538 4.037834 4.037834 0.01 0.030465 0.00749 NA 0.072 NA 14.2527684 255 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 256 11 5372856 5372856 A G exonic OR51B6 NA nonsynonymous SNV OR51B6:NM_001004750:exon1:c.A119G:p.N40S exonic ENSG00000176239 NA nonsynonymous SNV ENSG00000176239:ENST00000380219:exon1:c.A119G:p.N40S Score=369;Name=lod=42 NA 11p15.4 NA NA NA NA rs4910756 0.15 0.15 0.139 0.150759 0.2147 0.0188 0.1556 0.2254 0.1166 0.21 0.01 0.16 0.2 0.1667 0.21 0.01 D 0.494 P 0.35 B 0.000 D 0.000 P 3.885 H -0.94 T -0.975 T 0.001 T 0.285 3.584 18.26 4.02 0.978 6.909 9.858 3.584023 3.584023 0.01 0.212241 0.19741 NA 0.203 NA 14.2396924 256 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 256 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 257 12 120313953 120313953 C T exonic CIT NA nonsynonymous SNV CIT:NM_001206999:exon2:c.G20A:p.G7E,CIT:NM_007174:exon2:c.G20A:p.G7E exonic ENSG00000122966 NA nonsynonymous SNV ENSG00000122966:ENST00000261833:exon2:c.G20A:p.G7E,ENSG00000122966:ENST00000392521:exon2:c.G20A:p.G7E Score=454;Name=lod=93 NA 12q24.23 Score=926;Name=V$YY1_01 NA NA NA rs36054900 0.02 0.02 0.017 0.0111821 0.0368 NA 0.0159 0.0015 0.0061 0.04 NA 0.01 0.01 0.023 0.043 0.01 D 0.041 B 0.034 B 0.027 N 1.000 D 0.805 L -0.08 T -0.983 T 0.053 T 0.218 3.47 17.76 5.68 2.687 3.818 17.974 3.469508 3.469508 0.01 0.043256 0.009986 NA NA NA 14.2302774 258 1 22852880 22852880 G C exonic ZBTB40 NA nonsynonymous SNV ZBTB40:NM_014870:exon18:c.G3711C:p.E1237D,ZBTB40:NM_001083621:exon19:c.G3711C:p.E1237D exonic ENSG00000184677 NA nonsynonymous SNV ENSG00000184677:ENST00000374651:exon16:c.G3375C:p.E1125D,ENSG00000184677:ENST00000375647:exon18:c.G3711C:p.E1237D,ENSG00000184677:ENST00000404138:exon19:c.G3711C:p.E1237D Score=369;Name=lod=42 NA 1p36.12 Score=966;Name=V$CEBP_01 NA NA NA rs45502998 0.02 0.02 0.014 0.0263578 0.0368 NA 0.0187 0.0015 0.0818 0.04 NA 0.03 0.0041 0.0362 0.04 0.12 T 0.884 P 0.507 P 0.000 D 0.747 D 0.975 L 2.99 T -1.031 T 0.007 T 0.076 2.726 15.08 3.74 0.678 1.652 7.607 2.726291 2.726291 0.04 0.035349 0.007036 NA 0.014 NA 14.2249844 258 6 88140811 88140811 C A exonic C6orf165 NA nonsynonymous SNV C6orf165:NM_001031743:exon10:c.C1220A:p.A407E exonic ENSG00000213204,ENSG00000272514 NA nonsynonymous SNV ENSG00000272514:ENST00000369562:exon10:c.C1220A:p.A407E,ENSG00000213204:ENST00000507897:exon10:c.C1220A:p.A407E Score=567;Name=lod=268 NA 6q15 NA NA NA NA rs117649467 0.02 0.02 0.008 0.0217652 0.0427 NA 0.0159 0.0015 0.0542 0.04 NA 0.01 NA 0.0338 0.054 0.69 T 0.042 B 0.026 B 0.000 D 1.000 D 2.075 M 1.52 T -1.085 T 0.035 T 0.275 2.079 12.91 5.51 2.589 1.522 9.101 2.079236 2.079236 0.12 0.036977 0.006128 NA 0.043 NA 14.2198564 259 11 6913290 6913290 A G exonic OR2D2 NA nonsynonymous SNV OR2D2:NM_003700:exon1:c.T442C:p.S148P exonic ENSG00000166368 NA nonsynonymous SNV ENSG00000166368:ENST00000299459:exon1:c.T442C:p.S148P Score=336;Name=lod=31 NA 11p15.4 NA NA NA NA rs1965209 0.15 0.15 0.136 0.148762 0.1918 0.1399 0.2637 0.0333 0.1881 0.19 0.14 0.24 0.04 0.203 0.24 0 D 0.993 D 0.876 P 0.027 N 0.810 P 2.225 M 1.11 T -1.113 T 0.000 T 0.326 2.799 15.32 5.12 2.291 3.944 13.229 2.798883 2.798883 0.02 0.223929 0.061336 NA 0.167 NA 14.2146044 259 7 150739054 150739054 G A exonic ABCB8 NA nonsynonymous SNV ABCB8:NM_007188:exon14:c.G1624A:p.V542I exonic ENSG00000197150 NA nonsynonymous SNV ENSG00000197150:ENST00000542328:exon13:c.G1360A:p.V454I,ENSG00000197150:ENST00000358849:exon14:c.G1624A:p.V542I,ENSG00000197150:ENST00000498578:exon14:c.G1624A:p.V542I,ENSG00000197150:ENST00000297504:exon15:c.G1675A:p.V559I Score=481;Name=lod=120 NA 7q36.1 NA NA NA NA rs56198402 0.03 0.03 0.033 0.0265575 0.0447 0.0208 0.0476 0.0008 0.0337 0.05 0.02 0.05 NA 0.0371 0.05 0.3 T 0.115 B 0.106 B 0.000 D 1.000 D 0.065 N -2.7 D -0.615 T 0.136 T 0.209 1.399 10.61 3.83 2.456 5.412 11.024 1.399063 1.399063 0.42 0.040465 0.007717 NA 0.051 NA 14.2110684 259 7 45016621 45016621 C T exonic MYO1G NA nonsynonymous SNV MYO1G:NM_033054:exon2:c.G145A:p.V49M exonic ENSG00000136286 NA nonsynonymous SNV ENSG00000136286:ENST00000258787:exon2:c.G145A:p.V49M,ENSG00000136286:ENST00000464434:exon2:c.G145A:p.V49M Score=529;Name=lod=189 NA 7p13 Score=810;Name=V$TAXCREB_01 NA NA NA rs61739531 0.16 0.16 0.141 0.136981 0.2296 0.0952 0.1859 0.1293 0.0603 0.24 0.09 0.19 0.12 0.1826 0.24 0.19 T 0.987 D 0.73 P 0.005 N 0.000 P 1.615 L -2.76 D -1.179 T 0.001 T 0.298 2.972 15.91 3.93 2.199 3.760 9.758 2.971733 2.971733 0.14 0.212674 0.14798 NA 0.116 NA 14.2084594 259 9 8518052 8518052 G C exonic PTPRD NA nonsynonymous SNV PTPRD:NM_001171025:exon8:c.C1309G:p.Q437E,PTPRD:NM_001040712:exon9:c.C1330G:p.Q444E,PTPRD:NM_130393:exon9:c.C1321G:p.Q441E,PTPRD:NM_130391:exon10:c.C1339G:p.Q447E,PTPRD:NM_130392:exon10:c.C1339G:p.Q447E,PTPRD:NM_002839:exon21:c.C1339G:p.Q447E exonic ENSG00000153707 NA nonsynonymous SNV ENSG00000153707:ENST00000358503:exon7:c.C1300G:p.Q434E,ENSG00000153707:ENST00000360074:exon7:c.C1300G:p.Q434E,ENSG00000153707:ENST00000397606:exon8:c.C1309G:p.Q437E,ENSG00000153707:ENST00000397617:exon8:c.C1309G:p.Q437E,ENSG00000153707:ENST00000537002:exon8:c.C1330G:p.Q444E,ENSG00000153707:ENST00000397611:exon9:c.C1330G:p.Q444E,ENSG00000153707:ENST00000355233:exon10:c.C1339G:p.Q447E,ENSG00000153707:ENST00000356435:exon10:c.C1339G:p.Q447E,ENSG00000153707:ENST00000486161:exon10:c.C1339G:p.Q447E,ENSG00000153707:ENST00000540109:exon10:c.C1339G:p.Q447E,ENSG00000153707:ENST00000381196:exon18:c.C1339G:p.Q447E Score=475;Name=lod=114 NA 9p24.1 NA NA NA NA rs10977171 0.05 0.05 0.05 0.0509185 0.0348 0.121 0.0504 0.0015 0.0624 0.03 0.13 0.04 0.002 0.0461 0.13 . . 0.991 D 0.993 D 0.000 D 0.000 P 1.16 L -0.44 T -1.022 T 0.007 T 0.684 0.314 5.702 5.31 2.484 9.807 18.979 0.314073 NA 0.29 0.044767 0.008171 ID=COSM150577;OCCURENCE=1(stomach) 0.036 NA 14.2076664 260 5 79361265 79361265 G C exonic THBS4 NA nonsynonymous SNV THBS4:NM_003248:exon9:c.G1159C:p.A387P exonic ENSG00000113296 NA nonsynonymous SNV ENSG00000113296:ENST00000350881:exon9:c.G1159C:p.A387P,ENSG00000113296:ENST00000511733:exon9:c.G886C:p.A296P Score=361;Name=lod=39 NA 5q14.1 NA NA Name=2 NA rs1866389 0.14 0.14 0.128 0.125799 0.2326 0.0506 0.1311 0.0688 0.1667 0.23 0.06 0.16 0.06 0.1783 0.23 0.8 T 0.568 P 0.352 B 0.000 D 0.114 P -1.06 N -3.0 D -0.903 T 0.000 T 0.184 2.535 14.44 5.19 2.711 2.875 15.989 2.535439 2.535439 0.01 0.221279 0.09941 NA 0.203 NA 14.2011544 260 20 5556512 5556512 G A exonic GPCPD1 NA nonsynonymous SNV GPCPD1:NM_019593:exon9:c.C818T:p.T273I exonic ENSG00000125772 NA nonsynonymous SNV ENSG00000125772:ENST00000379019:exon9:c.C818T:p.T273I Score=631;Name=lod=490 NA 20p12.3 NA NA NA NA rs2273373 0.11 0.11 0.108 0.10603 0.0318 0.1022 0.0648 0.2322 0.045 0.03 0.11 0.06 0.26 0.0612 0.26 0.19 T 1.0 D 0.963 D 0.000 D 0.000 P 0.975 L 0.71 T -1.150 T 0.000 T 0.305 4.235 22 5.62 2.634 7.855 19.644 4.234783 4.234783 0.22 0.04407 0.209941 NA 0.152 NA 14.1962634 260 8 11710888 11710888 G C exonic CTSB NA nonsynonymous SNV CTSB:NM_001908:exon2:c.C76G:p.L26V,CTSB:NM_147781:exon3:c.C76G:p.L26V,CTSB:NM_147782:exon3:c.C76G:p.L26V,CTSB:NM_147783:exon3:c.C76G:p.L26V,CTSB:NM_147780:exon4:c.C76G:p.L26V exonic ENSG00000164733 NA nonsynonymous SNV ENSG00000164733:ENST00000415599:exon1:c.C76G:p.L26V,ENSG00000164733:ENST00000353047:exon2:c.C76G:p.L26V,ENSG00000164733:ENST00000434271:exon2:c.C76G:p.L26V,ENSG00000164733:ENST00000524654:exon2:c.C76G:p.L26V,ENSG00000164733:ENST00000526195:exon2:c.C76G:p.L26V,ENSG00000164733:ENST00000527243:exon2:c.C76G:p.L26V,ENSG00000164733:ENST00000530296:exon2:c.C76G:p.L26V,ENSG00000164733:ENST00000530640:exon2:c.C76G:p.L26V,ENSG00000164733:ENST00000533572:exon2:c.C76G:p.L26V,ENSG00000164733:ENST00000534149:exon2:c.C76G:p.L26V,ENSG00000164733:ENST00000534382:exon2:c.C76G:p.L26V,ENSG00000164733:ENST00000534636:exon2:c.C76G:p.L26V,ENSG00000164733:ENST00000345125:exon3:c.C76G:p.L26V,ENSG00000164733:ENST00000453527:exon3:c.C76G:p.L26V,ENSG00000164733:ENST00000526645:exon3:c.C76G:p.L26V,ENSG00000164733:ENST00000528965:exon3:c.C76G:p.L26V,ENSG00000164733:ENST00000531089:exon3:c.C76G:p.L26V,ENSG00000164733:ENST00000531502:exon3:c.C76G:p.L26V,ENSG00000164733:ENST00000531551:exon3:c.C76G:p.L26V,ENSG00000164733:ENST00000533455:exon3:c.C76G:p.L26V,ENSG00000164733:ENST00000534510:exon3:c.C76G:p.L26V,ENSG00000164733:ENST00000505496:exon4:c.C76G:p.L26V,ENSG00000164733:ENST00000524500:exon4:c.C76G:p.L26V,ENSG00000164733:ENST00000527215:exon4:c.C76G:p.L26V,ENSG00000164733:ENST00000532656:exon4:c.C76G:p.L26V Score=333;Name=lod=30 NA 8p23.1 NA Name=Rad21,c-Myc,TCF4,FOXA2_(SC-6554),Sin3Ak-20,CEBPB,FOXA1_(SC-101058),FOSL2,FOXA1_(C-20),Pol2,USF2,USF-1,CTCF,HDAC2_(SC-6296),p300 Name=26 NA rs12338 0.4 0.4 0.382 0.395966 0.3827 0.5149 0.3905 0.3298 0.3804 0.39 0.5 0.38 0.33 0.3807 0.5 0.01 D 0.01 B 0.017 B 0.000 D 0.000 P 3.63 H -0.15 T -1.005 T 0.000 T 0.597 2.155 13.16 2.39 0.192 1.474 4.816 2.154838 2.154838 0.03 0.374651 0.338402 NA 0.355 NA 14.1952824 261 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 261 14 50074520 50074520 C T exonic LRR1 NA nonsynonymous SNV LRR1:NM_152329:exon3:c.C685T:p.R229W exonic ENSG00000165501 NA nonsynonymous SNV ENSG00000165501:ENST00000298288:exon3:c.C685T:p.R229W Score=451;Name=lod=91 NA 14q21.3 Score=761;Name=V$PAX5_02 NA NA NA rs7148147 0.19 0.19 0.186 0.172324 0.2296 0.0268 0.3156 0.2625 0.0399 0.22 0.05 0.29 0.24 0.1927 0.29 0.07 T 0.99 D 0.745 P 0.042 N 0.000 P 2.76 M 2.05 T -1.025 T 0.000 T 0.168 4.058 20.8 5.1 1.571 4.636 11.575 4.057746 4.057746 0.07 0.218605 0.255107 NA 0.188 NA 14.1924284 261 X 132437337 132437337 G A exonic GPC4 NA nonsynonymous SNV GPC4:NM_001448:exon8:c.C1325T:p.A442V exonic ENSG00000076716 NA nonsynonymous SNV ENSG00000076716:ENST00000370828:exon8:c.C1325T:p.A442V,ENSG00000076716:ENST00000535467:exon8:c.C1115T:p.A372V Score=513;Name=lod=162 NA Xq26.2 Score=902;Name=V$CEBPA_01 NA NA NA rs1048369 0.39 0.39 0.41733 NA NA NA NA NA NA 0.27 0.42 0.27 0.64 0.349 0.64 0.03 D 0.902 P 0.411 B 0.000 N 0.000 P 2.21 M 0.67 T -0.913 T 0.000 T 0.081 3.836 19.48 4.72 1.052 6.803 11.904 3.835502 3.835502 0.03 0.295184 0.597132 NA 0.319 NA 14.1891494 262 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 262 4 76878716 76878716 G C exonic SDAD1 NA nonsynonymous SNV SDAD1:NM_018115:exon19:c.C1724G:p.S575C exonic ENSG00000198301 NA nonsynonymous SNV ENSG00000198301:ENST00000395711:exon18:c.C1613G:p.S538C,ENSG00000198301:ENST00000356260:exon19:c.C1724G:p.S575C Score=468;Name=lod=106 NA 4q21.1 Score=985;Name=V$STAT1_03 NA NA NA rs2242471 0.25 0.25 0.252 0.278954 0.4225 0.0734 0.2089 0.2368 0.4499 0.43 0.06 0.23 0.22 0.341 0.43 0.04 D 0.941 P 0.612 P 0.000 D 0.776 P 1.445 L 1.89 T -1.153 T 0.000 T 0.065 3.509 17.93 5.15 2.581 3.973 16.483 3.50948 3.50948 0.06 0.391279 0.250567 NA 0.399 NA 14.1785544 262 6 110760008 110760008 A G exonic SLC22A16 NA nonsynonymous SNV SLC22A16:NM_033125:exon5:c.T1226C:p.M409T exonic ENSG00000004809 NA nonsynonymous SNV ENSG00000004809:ENST00000451557:exon4:c.T977C:p.M326T,ENSG00000004809:ENST00000368919:exon5:c.T1226C:p.M409T,ENSG00000004809:ENST00000434949:exon5:c.T716C:p.M239T,ENSG00000004809:ENST00000439654:exon5:c.T1226C:p.M409T,ENSG00000004809:ENST00000330550:exon6:c.T1124C:p.M375T Score=284;Name=lod=19 NA 6q21 NA NA NA NA rs12210538 0.11 0.11 0.096 0.0914537 0.2445 NA 0.1527 0.0121 0.092 0.25 NA 0.14 0.02 0.1679 0.25 0.07 T 0.959 D 0.783 P 0.000 D 0.000 P 2.14 M -0.81 T -0.138 T 0.405 T 0.513 3.58 18.24 4.98 1.877 6.101 14.667 3.580325 3.580325 0.02 0.24314 0.051067 NA 0.123 NA 14.1777934 262 3 49138810 49138810 T C exonic QARS NA nonsynonymous SNV QARS:NM_001272073:exon10:c.A821G:p.N274S,QARS:NM_005051:exon10:c.A854G:p.N285S exonic ENSG00000172053 NA nonsynonymous SNV ENSG00000172053:ENST00000306125:exon10:c.A854G:p.N285S,ENSG00000172053:ENST00000414533:exon10:c.A821G:p.N274S Score=634;Name=lod=503 NA 3p21.31 NA NA NA NA rs11539148 0.02 0.02 0.02 0.0163738 0.0596 0.001 0.0202 0.0015 0.0051 0.05 0.0017 0.02 0.0041 0.0391 0.057 0.65 T 0.054 B 0.172 B 0.000 D 1.000 D 2.41 M 2.01 T -1.108 T 0.009 T 0.182 3.106 16.38 4.57 0.996 5.780 11.541 3.106334 3.106334 0.03 0.057209 0.014072 NA 0.014 NA 14.1774244 262 17 64208285 64208285 C G exonic APOH NA nonsynonymous SNV APOH:NM_000042:exon8:c.G1004C:p.W335S exonic ENSG00000091583 NA nonsynonymous SNV ENSG00000091583:ENST00000205948:exon8:c.G1004C:p.W335S Score=452;Name=lod=92 NA 17q24.2 NA NA NA NA rs1801690 0.04 0.04 0.04 0.0365415 0.0567 0.0546 0.0288 0.0023 0.0491 0.06 0.07 0.04 0.002 0.0488 0.07 0.49 T 0.999 D 0.954 D 0.010 N 0.000 P 2.3 M 1.96 T -1.109 T 0.013 T 0.379 3.31 17.13 5.7 2.679 3.506 15.345 3.310302 3.310302 0.04 0.051279 0.008625 NA 0.036 NA 14.1765544 262 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 263 6 12296255 12296255 G T exonic EDN1 NA nonsynonymous SNV EDN1:NM_001168319:exon5:c.G591T:p.K197N,EDN1:NM_001955:exon5:c.G594T:p.K198N exonic ENSG00000078401 NA nonsynonymous SNV ENSG00000078401:ENST00000379375:exon5:c.G594T:p.K198N Score=381;Name=lod=47 Name=Circulating vasoactive peptide levels 6p24.1 NA Name=Pol2,CTCF Name=116 NA rs5370 0.21 0.21 0.227 0.247404 0.2127 0.2857 0.147 0.1619 0.4305 0.21 0.28 0.17 0.14 0.2345 0.28 0.08 T 0.454 P 0.071 B 0.082 N 0.998 P 1.15 L -1.87 D -0.893 T 0.230 T 0.116 0.692 7.695 2.18 0.116 0.049 9.471 0.691892 NA 0.09 0.211279 0.196323 ID=COSM150053;OCCURENCE=1(stomach) 0.145 CLINSIG=other;CLNDBN=High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_7;CLNREVSTAT=single;CLNACC=RCV000018132.1;CLNDSDB=.;CLNDSDBID=. 14.1748544 263 1 22181895 22181895 C T exonic HSPG2 NA nonsynonymous SNV HSPG2:NM_005529:exon47:c.G5899A:p.V1967I exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000374695:exon47:c.G5899A:p.V1967I Score=381;Name=lod=47 NA 1p36.12 NA NA NA NA rs2229475 0.02 0.02 0.019 0.0347444 0.0497 NA 0.0245 0.0015 0.1074 0.05 NA 0.03 0.0041 0.0536 0.057 0.12 T 0.998 D 0.995 D 0.003 N 0.994 D 1.315 L -0.47 T -0.638 T 0.090 T 0.153 3.147 16.52 5.12 2.399 1.829 16.043 3.146828 3.146828 0.2 0.056512 0.009305 NA 0.029 NA 14.1735214 263 18 28737407 28737407 G A exonic DSC1 NA nonsynonymous SNV DSC1:NM_004948:exon3:c.C278T:p.S93F,DSC1:NM_024421:exon3:c.C278T:p.S93F exonic ENSG00000134765 NA nonsynonymous SNV ENSG00000134765:ENST00000257197:exon3:c.C278T:p.S93F,ENSG00000134765:ENST00000257198:exon3:c.C278T:p.S93F Score=300;Name=lod=22 NA 18q12.1 NA Name=ERalpha_a,KAP1 Name=26 NA rs35338395 0.03 0.03 0.021 0.0207668 0.0676 NA 0.0418 0.0008 0.0061 0.07 NA 0.04 NA 0.0387 0.07 0.11 T 0.012 B 0.018 B 0.024 N 0.980 D 2.19 M 1.01 T -1.103 T 0.011 T 0.086 1.394 10.6 2.8 0.363 1.175 6.590 1.394435 1.394435 0 0.060581 0.013618 NA 0.029 NA 14.1664524 263 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 264 2 215674224 215674224 G A exonic BARD1 NA nonsynonymous SNV BARD1:NM_000465:exon1:c.C70T:p.P24S exonic ENSG00000138376 NA nonsynonymous SNV ENSG00000138376:ENST00000260947:exon1:c.C70T:p.P24S,ENSG00000138376:ENST00000421162:exon1:c.C70T:p.P24S,ENSG00000138376:ENST00000455743:exon1:c.C70T:p.P24S Score=333;Name=lod=30 NA 2q35 Score=770;Name=V$AHRARNT_02 Name=PAX5-N19,YY1,YY1_(C-20),Sin3Ak-20,PAX5-C20,Pol2-4H8,EBF1_(C-8),ELF1_(SC-631),Pol2,HA-E2F1,E2F6 Name=2 NA rs1048108 0.35 0.35 0.313 0.33127 0.3946 0.3313 0.4006 0.1929 0.4039 0.41 0.35 0.42 0.19 0.4377 0.42 0.22 T 0.002 B 0.005 B 0.000 D 0.000 P 0.41 N -0.72 T -1.043 T 0.000 T 0.109 2.657 14.84 3.1 2.221 0.968 5.315 2.656841 2.656841 0 0.347388 0.215251 ID=COSM1482743,COSM442275;OCCURENCE=2(breast) 0.167 NA 14.1536454 264 11 4945229 4945229 G A exonic OR51G1 NA nonsynonymous SNV OR51G1:NM_001005237:exon1:c.C341T:p.S114L exonic ENSG00000176879 NA nonsynonymous SNV ENSG00000176879:ENST00000321961:exon1:c.C341T:p.S114L NA NA 11p15.4 Score=919;Name=V$AP1_Q6 NA NA NA rs10836954 0.08 0.08 0.077 0.0722843 0.0666 0.2202 0.0187 0.0129 0.044 0.07 0.22 0.02 0.01 0.0639 0.22 0 D 1.0 D 0.999 D 0.002 U 1.000 P 2.475 M 2.17 T -1.097 T 0.000 T 0.218 1.253 10.08 4.2 2.169 0.823 11.335 1.253026 1.253026 0 0.052932 0.015448 NA 0.029 NA 14.1499014 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(phosphoS2),Pol2,Pol2-4H8 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 3 52797634 52797634 G C exonic NEK4 NA nonsynonymous SNV NEK4:NM_001193533:exon4:c.C406G:p.P136A,NEK4:NM_003157:exon5:c.C673G:p.P225A exonic ENSG00000114904 NA nonsynonymous SNV ENSG00000114904:ENST00000461689:exon4:c.C406G:p.P136A,ENSG00000114904:ENST00000535191:exon4:c.C406G:p.P136A,ENSG00000114904:ENST00000233027:exon5:c.C673G:p.P225A,ENSG00000114904:ENST00000383721:exon5:c.C673G:p.P225A Score=639;Name=lod=525 NA 3p21.1 NA Name=c-Jun,PRDM1_(Val90),GATA-1,GATA-2,CEBPB,c-Fos,JunD,p300_(N-15),STAT3 Name=61 NA rs1029871 0.39 0.39 0.368 0.30631 0.4175 0.4246 0.4553 0.1278 0.2055 0.42 0.49 0.47 0.14 0.3727 0.49 0.05 D 0.955 P 0.843 P 0.001 N 0.000 P 1.46 L 1.79 T -0.903 T 0.000 T 0.264 4.984 29.2 5.93 2.810 7.529 20.342 4.983685 4.983685 0.03 0.403372 0.151611 NA 0.217 NA 14.1397614 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 266 16 84256619 84256619 C T exonic KCNG4 NA nonsynonymous SNV KCNG4:NM_172347:exon3:c.G764A:p.C255Y exonic ENSG00000168418 NA nonsynonymous SNV ENSG00000168418:ENST00000308251:exon3:c.G764A:p.C255Y Score=524;Name=lod=179 NA 16q24.1 NA NA NA NA rs17736370 0.09 0.09 0.115 0.0976438 0.0676 0.0833 0.1037 0.1293 0.0961 0.06 0.08 0.09 0.15 0.077 0.15 0.14 T 0.124 B 0.052 B 0.000 D 0.000 P 2.74 M -4.05 D -0.579 T 0.041 T 0.674 1.687 11.6 5.5 2.574 7.818 18.391 1.686549 1.686549 NA 0.062558 0.101591 ID=COSM1600028;OCCURENCE=2(central_nervous_system) 0.123 NA 14.1261754 267 9 71865988 71865988 C T exonic TJP2 NA nonsynonymous SNV TJP2:NM_001170415:exon20:c.C2930T:p.S977F,TJP2:NM_001170416:exon21:c.C3122T:p.S1041F,TJP2:NM_004817:exon21:c.C3029T:p.S1010F exonic ENSG00000119139 NA nonsynonymous SNV ENSG00000119139:ENST00000535702:exon20:c.C2930T:p.S977F,ENSG00000119139:ENST00000377245:exon21:c.C3029T:p.S1010F,ENSG00000119139:ENST00000539225:exon21:c.C3122T:p.S1041F Score=325;Name=lod=28 NA 9q21.11 NA NA NA NA rs41277907 0.04 0.04 0.025 0.0393371 0.0785 0.002 0.049 0.0083 0.0726 0.08 0.0017 0.06 0.002 0.0638 0.08 0.02 D 0.001 B 0.007 B 0.956 N 1.000 D 1.15 L 2.93 T -0.993 T 0.003 T 0.281 1.863 12.19 5.58 2.628 2.013 19.554 1.86317 1.86317 0.01 0.078256 0.022015 NA 0.007 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038252.1;CLNDSDB=.;CLNDSDBID=. 14.1127774 267 15 42681199 42681199 G A exonic CAPN3 NA nonsynonymous SNV CAPN3:NM_000070:exon5:c.G706A:p.A236T,CAPN3:NM_024344:exon5:c.G706A:p.A236T,CAPN3:NM_173087:exon5:c.G706A:p.A236T exonic ENSG00000092529 NA nonsynonymous SNV ENSG00000092529:ENST00000318023:exon5:c.G706A:p.A236T,ENSG00000092529:ENST00000349748:exon5:c.G706A:p.A236T,ENSG00000092529:ENST00000357568:exon5:c.G706A:p.A236T,ENSG00000092529:ENST00000397163:exon5:c.G706A:p.A236T,ENSG00000092529:ENST00000356316:exon9:c.G445A:p.A149T Score=648;Name=lod=572 NA 15q15.1 Score=862;Name=V$SREBP1_02 NA NA NA rs1801449 0.22 0.22 0.253 0.270168 0.0477 0.1121 0.0922 0.7458 0.1452 0.05 0.09 0.12 0.72 0.1238 0.72 1 T 0.001 B 0.005 B 0.000 N 0.000 P -0.155 N -2.35 D -0.964 T 0.000 T 0.204 2.536 14.44 5.41 1.082 7.222 11.489 2.53587 2.53587 1 0.049663 0.621198 NA 0.232 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078102.2;CLNDSDB=.;CLNDSDBID=. 14.1121704 267 3 58552329 58552329 C G exonic FAM107A NA nonsynonymous SNV FAM107A:NM_001076778:exon4:c.G421C:p.E141Q,FAM107A:NM_007177:exon5:c.G421C:p.E141Q exonic ENSG00000168309 NA nonsynonymous SNV ENSG00000168309:ENST00000360997:exon4:c.G421C:p.E141Q,ENSG00000168309:ENST00000447756:exon4:c.G505C:p.E169Q,ENSG00000168309:ENST00000394481:exon5:c.G421C:p.E141Q,ENSG00000168309:ENST00000474531:exon5:c.G514C:p.E172Q Score=278;Name=lod=18 NA 3p14.3 NA NA NA NA rs11539086 0.1 0.1 0.082 0.108826 0.0736 0.004 0.1095 0.2579 0.0511 0.07 0.01 0.1 0.24 0.0858 0.24 0.18 T 0.998 D 0.986 D 0.000 D 0.000 P 1.43 L 1.24 T -1.188 T 0.000 T 0.045 3.93 20 5.07 2.509 4.727 18.421 3.929709 3.929709 0.03 0.066047 0.222878 NA 0.094 NA 14.1078864 268 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$YY1_02 Name=SUZ12 Name=9 NA rs8192562 0.04 0.04 0.023 0.0299521 0.0944 NA 0.0418 0.003 0.0225 0.08 NA 0.06 0.01 0.056 0.08 0.59 T 0.0 B 0.001 B 0.013 N 0.765 N -0.895 N -2.71 D -0.908 T 0.026 T 0.011 1.228 9.981 1.46 1.050 1.396 4.556 1.228068 NA 0.36 0.078953 0.014753 NA 0.014 NA 14.1039804 268 7 143657427 143657427 C T exonic OR2F1 NA nonsynonymous SNV OR2F1:NM_012369:exon1:c.C364T:p.R122C exonic ENSG00000213215 NA nonsynonymous SNV ENSG00000213215:ENST00000392899:exon1:c.C364T:p.R122C Score=503;Name=lod=148 NA 7q35 NA NA NA NA rs2072164 0.12 0.12 0.091 0.114417 0.0706 0.1617 0.1744 0.0908 0.1002 0.08 0.18 0.16 0.09 0.1013 0.18 0 D 0.014 B 0.01 B 0.000 D 0.000 P 3.01 M -1.09 T -0.866 T 0.002 T 0.261 2.542 14.46 4.53 1.513 2.186 12.137 2.542464 2.542464 0.02 0.062791 0.084203 NA 0.058 NA 14.0986424 269 17 7735934 7735934 G A exonic DNAH2 NA nonsynonymous SNV DNAH2:NM_020877:exon82:c.G12764A:p.R4255Q exonic ENSG00000183914 NA nonsynonymous SNV ENSG00000183914:ENST00000389173:exon82:c.G12764A:p.R4255Q,ENSG00000183914:ENST00000572933:exon83:c.G12764A:p.R4255Q Score=466;Name=lod=104 NA 17p13.1 Score=789;Name=V$PPARG_03 NA NA NA rs61745181 0.09 0.09 0.069 0.114816 0.0616 0.1409 0.2478 0.0038 0.1984 0.06 0.14 0.19 0.01 0.1078 0.19 0.59 T 0.955 P 0.658 P 0.000 D 0.000 P 1.645 L 3.14 T -0.878 T 0.000 T 0.302 4.642 25.5 5.41 2.546 6.481 17.973 4.642337 4.642337 0.15 0.07593 0.022469 NA 0.058 NA 14.0880034 270 1 176833497 176833497 G C exonic ASTN1 NA nonsynonymous SNV ASTN1:NM_004319:exon23:c.C3808G:p.R1270G exonic ENSG00000152092 NA nonsynonymous SNV ENSG00000152092:ENST00000361833:exon23:c.C3808G:p.R1270G,ENSG00000152092:ENST00000367654:exon23:c.C3832G:p.R1278G Score=621;Name=lod=445 NA 1q25.2 Score=786;Name=V$HEN1_01 NA NA NA rs12118933 0.06 0.06 0.045 0.0419329 0.1103 0.0308 0.0576 0.0053 0.0215 0.1 0.02 0.09 0.01 0.0616 0.1 0.01 D 0.369 B 0.182 B 0.000 D 0.000 P 0.55 N 2.84 T -0.986 T 0.001 T 0.426 3.778 19.18 4.61 2.282 7.037 17.415 3.777808 3.777808 0.01 0.088023 0.016795 NA 0.007 NA 14.0734104 270 1 247769752 247769752 A G exonic OR2G3 NA nonsynonymous SNV OR2G3:NM_001001914:exon1:c.A865G:p.I289V exonic ENSG00000177476 NA nonsynonymous SNV ENSG00000177476:ENST00000320002:exon1:c.A865G:p.I289V Score=309;Name=lod=24 NA 1q44 NA NA NA NA rs61730407 0.37 0.37 0.343 0.338059 0.4394 0.4325 0.3127 0.2307 0.2996 0.43 0.43 0.37 0.21 0.3979 0.43 0.02 D 0.992 D 0.994 D 0.002 U 1.000 P 2.83 M 0.68 T -0.969 T 0.000 T 0.118 2.631 14.76 3.65 1.648 0.983 10.591 2.630914 2.630914 0.05 0.423953 0.2399 NA 0.283 NA 14.0720804 270 5 150436503 150436503 G C exonic TNIP1 NA nonsynonymous SNV TNIP1:NM_001252386:exon5:c.C292G:p.P98A,TNIP1:NM_001258455:exon5:c.C451G:p.P151A,TNIP1:NM_001258456:exon5:c.C451G:p.P151A,TNIP1:NM_001252385:exon6:c.C451G:p.P151A,TNIP1:NM_001252390:exon6:c.C451G:p.P151A,TNIP1:NM_001252391:exon6:c.C451G:p.P151A,TNIP1:NM_001252392:exon6:c.C451G:p.P151A,TNIP1:NM_001252393:exon6:c.C451G:p.P151A,TNIP1:NM_001258454:exon6:c.C451G:p.P151A,TNIP1:NM_006058:exon6:c.C451G:p.P151A exonic ENSG00000145901 NA nonsynonymous SNV ENSG00000145901:ENST00000519339:exon4:c.C292G:p.P98A,ENSG00000145901:ENST00000520931:exon5:c.C292G:p.P98A,ENSG00000145901:ENST00000522100:exon5:c.C292G:p.P98A,ENSG00000145901:ENST00000523200:exon5:c.C451G:p.P151A,ENSG00000145901:ENST00000524280:exon5:c.C451G:p.P151A,ENSG00000145901:ENST00000315050:exon6:c.C451G:p.P151A,ENSG00000145901:ENST00000389378:exon6:c.C451G:p.P151A,ENSG00000145901:ENST00000518977:exon6:c.C451G:p.P151A,ENSG00000145901:ENST00000521591:exon6:c.C451G:p.P151A,ENSG00000145901:ENST00000522226:exon6:c.C451G:p.P151A,ENSG00000145901:ENST00000523338:exon6:c.C451G:p.P151A Score=369;Name=lod=42 NA 5q33.1 NA NA NA NA rs2233290 0.1 0.1 0.097 0.0952476 0.0825 0.003 0.0908 0.2133 0.047 0.08 0.0017 0.1 0.22 0.0904 0.22 0.17 T 1.0 D 0.997 D 0.000 N 0.000 P 2.36 M 2.43 T -1.135 T 0.000 T 0.249 2.748 15.15 4.14 1.209 6.324 15.586 2.74846 2.74846 0.24 0.088359 0.180145 ID=COSM330482;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.101 NA 14.0720744 270 21 45733867 45733867 A T exonic PFKL NA nonsynonymous SNV PFKL:NM_002626:exon7:c.A710T:p.D237V exonic ENSG00000141959 NA nonsynonymous SNV ENSG00000141959:ENST00000349048:exon7:c.A710T:p.D237V,ENSG00000141959:ENST00000403390:exon8:c.A851T:p.D284V Score=520;Name=lod=173 NA 21q22.3 Score=799;Name=V$CMYB_01 NA NA NA rs1057037 0.07 0.07 0.067 0.0784744 0.0795 0.0099 0.0677 0.1089 0.1145 0.08 0.01 0.09 0.11 0.0998 0.11 0.24 T 0.91 P 0.682 P 0.000 D 0.000 P 0.065 N -1.4 T -0.819 T 0.012 T 0.154 2.459 14.18 4.64 1.736 8.885 13.080 2.458818 2.458818 0.21 0.082227 0.1041 NA 0.167 NA 14.0718064 271 1 236749649 236749649 T C exonic HEATR1 NA nonsynonymous SNV HEATR1:NM_018072:exon15:c.A1819G:p.M607V exonic ENSG00000119285 NA nonsynonymous SNV ENSG00000119285:ENST00000366581:exon15:c.A1819G:p.M607V,ENSG00000119285:ENST00000366582:exon15:c.A1819G:p.M607V Score=325;Name=lod=28 NA 1q43 Score=912;Name=V$TATA_01 NA NA NA rs2794763 0.44 0.44 0.407 0.36901 0.6223 0.4712 0.464 0.0348 0.3875 0.62 0.49 0.5 0.06 0.5368 0.62 0.04 D 0.584 P 0.055 B 0.000 D 0.000 P 2.045 M 0.63 T -0.940 T 0.000 T 0.458 1.508 10.99 5.42 2.180 4.261 15.755 1.507829 1.507829 0.01 0.62468 0.127326 NA 0.42 NA 14.0495534 271 3 193171979 193171979 T A exonic ATP13A4 NA nonsynonymous SNV ATP13A4:NM_032279:exon17:c.A1938T:p.E646D exonic ENSG00000127249 NA nonsynonymous SNV ENSG00000127249:ENST00000342695:exon17:c.A1938T:p.E646D,ENSG00000127249:ENST00000392443:exon17:c.A1881T:p.E627D Score=509;Name=lod=156 NA 3q29 NA NA NA NA rs35424709 0.06 0.06 0.041 0.0573083 0.0964 0.0377 0.0749 0.0166 0.0798 0.09 0.03 0.08 0.02 0.0855 0.11 0.04 D 0.975 D 0.928 D 0.000 D 0.000 P 2.035 M -0.5 T -0.752 T 0.017 T 0.518 3.94 20.1 2.49 0.172 0.070 9.273 3.940319 3.940319 0.03 0.106163 0.033137 NA 0.029 NA 14.0452704 272 3 122003769 122003769 A G exonic CASR NA nonsynonymous SNV CASR:NM_000388:exon7:c.A2968G:p.R990G,CASR:NM_001178065:exon7:c.A2998G:p.R1000G exonic ENSG00000036828 NA nonsynonymous SNV ENSG00000036828:ENST00000296154:exon6:c.A2968G:p.R990G,ENSG00000036828:ENST00000490131:exon7:c.A2968G:p.R990G,ENSG00000036828:ENST00000498619:exon7:c.A2998G:p.R1000G Score=321;Name=lod=27 NA 3q21.1 NA NA NA NA rs1042636 0.21 0.21 0.179 0.20647 0.0736 0.5198 0.1988 0.0303 0.2638 0.08 0.55 0.17 0.03 0.1451 0.55 0 D 0.319 B 0.051 B 0.000 D 0.015 P 0.805 L -2.52 D -0.936 T 0.000 T 0.434 1.469 10.86 3.26 1.004 2.918 11.867 1.469071 1.469071 0 0.07314 0.042896 NA 0.094 NA 14.0414934 273 1 159799910 159799910 G A exonic SLAMF8 NA nonsynonymous SNV SLAMF8:NM_020125:exon2:c.G295A:p.G99S exonic ENSG00000158714 NA nonsynonymous SNV ENSG00000158714:ENST00000289707:exon2:c.G295A:p.G99S Score=409;Name=lod=61 NA 1q23.2 NA NA NA NA rs34687326 0.05 0.05 0.046 0.0307508 0.1054 NA 0.0389 0.003 0.0174 0.11 NA 0.05 0.002 0.08 0.12 0.06 T 1.0 D 0.998 D 0.000 D 0.000 P 1.04 L 0.65 T -0.870 T 0.140 T 0.307 4.365 23 4.44 2.296 4.543 12.426 4.365236 4.365236 0 0.122674 0.0202 NA 0.036 NA 14.0252594 274 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=Pol2,E2F6,CTCF,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 275 14 21993638 21993638 G C exonic SALL2 NA nonsynonymous SNV SALL2:NM_005407:exon2:c.C224G:p.S75C exonic ENSG00000165821 NA nonsynonymous SNV ENSG00000165821:ENST00000317492:exon2:c.C224G:p.S75C,ENSG00000165821:ENST00000327430:exon2:c.C224G:p.S75C,ENSG00000165821:ENST00000450879:exon2:c.C218G:p.S73C,ENSG00000165821:ENST00000537235:exon2:c.C218G:p.S73C,ENSG00000165821:ENST00000538754:exon2:c.C218G:p.S73C,ENSG00000165821:ENST00000541965:exon2:c.C38G:p.S13C Score=464;Name=lod=103 NA 14q11.2 NA NA NA NA rs2242527 0.08 0.08 0.077 0.0734824 0.1153 0.0069 0.0576 0.118 0.0501 0.12 0.01 0.07 0.11 0.0921 0.12 0.02 D 1.0 D 0.995 D 0.002 N 0.063 P 1.735 L 3.55 T -0.988 T 0.004 T 0.256 2.611 14.69 4.36 2.296 2.781 8.149 2.610559 2.610559 0 0.111512 0.111666 NA 0.152 NA 14.0144214 276 16 89985844 89985844 G T exonic MC1R NA nonsynonymous SNV MC1R:NM_002386:exon1:c.G178T:p.V60L exonic ENSG00000198211,ENSG00000258839 NA nonsynonymous SNV ENSG00000258839:ENST00000555147:exon1:c.G178T:p.V60L,ENSG00000198211:ENST00000556922:exon1:c.G178T:p.V60L,ENSG00000258839:ENST00000555427:exon3:c.G178T:p.V60L Score=410;Name=lod=62 NA 16q24.3 NA NA NA NA rs1805005 0.05 0.05 0.054 0.0353435 0.1123 NA 0.072 0.0053 0.0072 0.11 NA 0.07 0.01 0.0832 0.13 . . 0.988 D 0.951 D 0.004 U 0.008 P 1.275 L -0.5 T -0.990 T 0.008 T 0.424 2.658 14.85 4.86 2.255 2.424 16.975 2.65814 2.65814 0 0.133419 0.022612 NA 0.022 CLINSIG=pathogenic;CLNDBN=Skin/hair/eye_pigmentation_2\x2c_blond_hair/fair_skin;CLNREVSTAT=single;CLNACC=RCV000015384.24;CLNDSDB=.;CLNDSDBID=. 14.0044144 276 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 277 6 88125542 88125542 G A exonic C6orf165 NA nonsynonymous SNV C6orf165:NM_001031743:exon5:c.G422A:p.R141H exonic ENSG00000213204,ENSG00000272514 NA nonsynonymous SNV ENSG00000272514:ENST00000369562:exon5:c.G422A:p.R141H,ENSG00000272514:ENST00000480123:exon5:c.G422A:p.R141H,ENSG00000213204:ENST00000507897:exon5:c.G422A:p.R141H Score=607;Name=lod=390 NA 6q15 NA NA NA NA rs61731441 0.1 0.1 0.083 0.106629 0.1203 0.1042 0.0706 0.1051 0.1227 0.12 0.1 0.08 0.1 0.1087 0.12 0.53 T 1.0 D 0.944 D 0.000 D 0.586 P 1.63 L 1.55 T -1.115 T 0.100 T 0.27 2.949 15.83 5.6 2.640 3.124 19.203 2.949349 2.949349 0.07 0.109651 0.116205 NA 0.08 NA 13.9946824 277 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 278 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 278 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=Fasting insulin-related traits (interaction with BMI),Type 2 diabetes 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 55081694 55081694 A G exonic DDX4 NA nonsynonymous SNV DDX4:NM_001166534:exon6:c.A412G:p.I138V,DDX4:NM_001142549:exon12:c.A757G:p.I253V,DDX4:NM_001166533:exon12:c.A799G:p.I267V,DDX4:NM_024415:exon13:c.A859G:p.I287V exonic ENSG00000152670 NA nonsynonymous SNV ENSG00000152670:ENST00000511853:exon6:c.A412G:p.I138V,ENSG00000152670:ENST00000354991:exon11:c.A757G:p.I253V,ENSG00000152670:ENST00000353507:exon12:c.A757G:p.I253V,ENSG00000152670:ENST00000506511:exon12:c.A799G:p.I267V,ENSG00000152670:ENST00000514278:exon12:c.A799G:p.I267V,ENSG00000152670:ENST00000505374:exon13:c.A859G:p.I287V Score=445;Name=lod=86 NA 5q11.2 Score=808;Name=V$CDPCR3_01 NA NA NA rs2305123 0.11 0.11 0.095 0.0994409 0.1252 0.1617 0.1167 0.0287 0.092 0.14 0.13 0.09 0.04 0.1108 0.14 0.04 D 0.387 B 0.149 B 0.000 D 0.000 P 1.41 L 0.99 T -1.051 T 0.001 T 0.258 3.04 16.14 5.03 1.905 3.827 10.707 3.039979 3.039979 0.03 0.119186 0.046074 NA 0.058 NA 13.9781474 279 3 49721532 49721532 G A exonic MST1 NA nonsynonymous SNV MST1:NM_020998:exon18:c.C2107T:p.R703C exonic ENSG00000173531 NA nonsynonymous SNV ENSG00000173531:ENST00000449682:exon18:c.C2107T:p.R703C NA Name=Primary sclerosing cholangitis,Crohn's disease,Ulcerative colitis,Inflammatory bowel disease 3p21.31 Score=761;Name=V$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 12 133428242 133428242 G A exonic CHFR NA nonsynonymous SNV CHFR:NM_001161347:exon10:c.C1214T:p.A405V,CHFR:NM_001161344:exon12:c.C1490T:p.A497V,CHFR:NM_001161345:exon12:c.C1487T:p.A496V,CHFR:NM_001161346:exon12:c.C1454T:p.A485V,CHFR:NM_018223:exon12:c.C1367T:p.A456V exonic ENSG00000072609 NA nonsynonymous SNV ENSG00000072609:ENST00000537522:exon4:c.C356T:p.A119V,ENSG00000072609:ENST00000443047:exon10:c.C1214T:p.A405V,ENSG00000072609:ENST00000315585:exon12:c.C1367T:p.A456V,ENSG00000072609:ENST00000432561:exon12:c.C1490T:p.A497V,ENSG00000072609:ENST00000450056:exon12:c.C1454T:p.A485V,ENSG00000072609:ENST00000266880:exon13:c.C1487T:p.A496V Score=415;Name=lod=65 NA 12q24.33 NA NA NA NA rs2306541 0.24 0.24 0.244 0.254792 0.2783 0.1925 0.2752 0.1952 0.3609 0.26 0.19 0.29 0.25 0.2803 0.31 0.36 T 0.983 D 0.743 P 0.000 D 0.000 P 2.08 M 1.39 T -1.093 T 0.000 T 0.727 4.086 21 6.08 2.894 8.783 20.663 4.085944 4.085944 0.13 0.307558 0.221743 ID=COSM1180449,COSM1180448;OCCURENCE=1(prostate) 0.348 NA 13.9671754 280 12 48272895 48272895 A G exonic VDR NA nonsynonymous SNV VDR:NM_000376:exon3:c.T2C:p.M1T,VDR:NM_001017536:exon3:c.T152C:p.M51T,VDR:NM_001017535:exon4:c.T2C:p.M1T exonic ENSG00000111424 NA nonsynonymous SNV ENSG00000111424:ENST00000547065:exon2:c.T2C:p.M1T,ENSG00000111424:ENST00000550314:exon2:c.T2C:p.M1T,ENSG00000111424:ENST00000395324:exon3:c.T2C:p.M1T,ENSG00000111424:ENST00000546653:exon3:c.T2C:p.M1T,ENSG00000111424:ENST00000549336:exon3:c.T2C:p.M1T,ENSG00000111424:ENST00000550325:exon3:c.T152C:p.M51T,ENSG00000111424:ENST00000229022:exon4:c.T2C:p.M1T,ENSG00000111424:ENST00000548664:exon4:c.T2C:p.M1T Score=425;Name=lod=71 NA 12q13.11 Score=734;Name=V$MYOGNF1_01 NA NA NA rs2228570 0.65 0.65 0.663 0.671526 0.6223 0.5823 0.5173 0.8109 0.7352 0.6 0.62 0.57 0.83 0.6376 0.83 0 D 0.993 D 0.848 P 0.000 D 0.000 P . . -2.88 D -0.925 T 0.000 T 0.307 3.377 17.39 2.89 0.944 4.298 9.950 3.376748 3.376748 0 0.61407 0.78847 NA 0.601 NA 13.9593634 280 17 73512884 73512884 T G exonic TSEN54 NA nonsynonymous SNV TSEN54:NM_207346:exon2:c.T114G:p.H38Q exonic ENSG00000182173 NA nonsynonymous SNV ENSG00000182173:ENST00000583818:exon1:c.T9G:p.H3Q,ENSG00000182173:ENST00000333213:exon2:c.T114G:p.H38Q Score=579;Name=lod=302 NA 17q25.1 Score=795;Name=V$OLF1_01 NA Name=16 NA rs8079373 0.16 0.16 0.144 0.163139 0.1421 0.0298 0.1066 0.351 0.1084 0.14 0.03 0.15 0.37 0.137 0.37 0.1 T 0.997 D 0.918 D 0.003 N 0.017 P 0.805 L 0.45 T -0.995 T 0.000 T 0.212 3.146 16.52 2.93 0.724 0.700 7.747 3.146141 3.146141 0.05 0.098927 0.231002 NA 0.014 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000082835.1|RCV000125719.1;CLNDSDB=.|.;CLNDSDBID=.|. 13.9553064 281 4 184618936 184618936 G C exonic TRAPPC11 NA nonsynonymous SNV TRAPPC11:NM_021942:exon25:c.G2799C:p.Q933H,TRAPPC11:NM_199053:exon25:c.G2799C:p.Q933H exonic ENSG00000168538 NA nonsynonymous SNV ENSG00000168538:ENST00000512476:exon14:c.G1617C:p.Q539H,ENSG00000168538:ENST00000334690:exon25:c.G2799C:p.Q933H,ENSG00000168538:ENST00000357207:exon25:c.G2799C:p.Q933H Score=405;Name=lod=59 NA 4q35.1 NA NA NA NA rs62617790 0.13 0.13 0.118 0.137979 0.1262 0.2054 0.0634 0.0348 0.273 0.13 0.25 0.07 0.04 0.1371 0.25 0.13 T 0.999 D 0.998 D 0.000 D 0.000 P 1.87 L . . -1.116 T 0.000 T 0.366 3.626 18.45 4.67 1.409 2.609 11.98 3.62608 3.62608 0.01 0.121279 0.048116 ID=COSM149767;OCCURENCE=1(stomach) 0.145 NA 13.9487544 282 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 282 11 60531346 60531346 T G exonic MS4A15 NA nonsynonymous SNV MS4A15:NM_001098835:exon2:c.T140G:p.L47R exonic ENSG00000166961 NA nonsynonymous SNV ENSG00000166961:ENST00000405633:exon2:c.T140G:p.L47R,ENSG00000166961:ENST00000429322:exon2:c.T140G:p.L47R,ENSG00000166961:ENST00000528170:exon2:c.T140G:p.L47R Score=243;Name=lod=13 NA 11q12.2 Score=741;Name=V$ROAZ_01 Name=ZEB1_(SC-25388),CTCF_(C-20),CTCF Name=4 NA rs1032939 0.43 0.43 0.36 0.40595 0.4841 0.628 0.4769 0.0628 0.5102 0.49 0.65 0.46 0.08 0.4597 0.65 0.53 T 0.999 D 0.996 D . . 0.000 P 0.895 L 2.77 T -1.020 T 0.000 T 0.359 0.889 8.61 4.08 0.806 1.528 7.988 0.888974 NA 0.26 0.458343 0.14261 NA 0.391 NA 13.9311904 282 10 50122109 50122109 C T exonic LRRC18 NA nonsynonymous SNV LRRC18:NM_001006939:exon1:c.G92A:p.R31H exonic ENSG00000165383 NA nonsynonymous SNV ENSG00000165383:ENST00000374160:exon1:c.G92A:p.R31H,ENSG00000165383:ENST00000298124:exon2:c.G92A:p.R31H Score=289;Name=lod=20 NA 10q11.23 NA NA NA NA rs17772611 0.11 0.11 0.105 0.112819 0.1441 0.002 0.0951 0.1437 0.1656 0.15 0.0017 0.12 0.15 0.119 0.15 . . 1.0 D 1.0 D 0.000 D 0.000 P 0.385 N 0.68 T -1.107 T 0.001 T 0.543 5.265 33 6.06 2.880 7.677 20.640 5.264929 5.264929 0.01 0.139651 0.141625 ID=COSM1348019;OCCURENCE=1(large_intestine) 0.152 NA 13.9305824 282 15 54003091 54003091 G A exonic WDR72 NA nonsynonymous SNV WDR72:NM_182758:exon9:c.C917T:p.P306L exonic ENSG00000166415 NA nonsynonymous SNV ENSG00000166415:ENST00000559418:exon8:c.C953T:p.P318L,ENSG00000166415:ENST00000360509:exon9:c.C917T:p.P306L,ENSG00000166415:ENST00000396328:exon9:c.C917T:p.P306L,ENSG00000166415:ENST00000557913:exon9:c.C914T:p.P305L,ENSG00000166415:ENST00000560036:exon10:c.C917T:p.P306L Score=582;Name=lod=310 NA 15q21.3 NA NA NA NA rs551225 0.32 0.32 0.318 0.320887 0.494 0.2014 0.3156 0.1626 0.4836 0.49 0.21 0.36 0.14 0.4113 0.5 0.04 D 1.0 D 0.984 D 0.000 D 0.000 P 1.4 L 2.24 T -0.868 T 0.000 T 0.811 4.028 20.7 5.58 2.778 6.344 18.919 4.027819 4.027819 0.03 0.501281 0.216272 NA 0.275 NA 13.9267524 283 18 2595443 2595443 G T exonic NDC80 NA nonsynonymous SNV NDC80:NM_006101:exon11:c.G1044T:p.E348D exonic ENSG00000080986 NA nonsynonymous SNV ENSG00000080986:ENST00000261597:exon11:c.G1044T:p.E348D Score=439;Name=lod=81 NA 18p11.32 NA NA NA NA rs12456560 0.12 0.12 0.09 0.0926518 0.1491 0.0923 0.1758 0.0242 0.0685 0.15 0.12 0.15 0.03 0.1305 0.15 0.1 T 0.999 D 0.967 D 0.000 D 0.000 P 2.045 M -0.09 T -0.967 T 0.003 T 0.261 3.212 16.76 2.8 0.704 4.342 10.391 3.212324 3.212324 NA 0.129419 0.042896 NA 0.051 NA 13.9243144 283 8 87235273 87235273 C T exonic SLC7A13 NA nonsynonymous SNV SLC7A13:NM_138817:exon2:c.G745A:p.V249M exonic ENSG00000164893 NA nonsynonymous SNV ENSG00000164893:ENST00000297524:exon2:c.G745A:p.V249M,ENSG00000164893:ENST00000419776:exon2:c.G718A:p.V240M NA NA 8q21.3 NA NA NA NA rs2976189 0.1 0.1 0.105 0.0958466 0.1491 0.0179 0.0749 0.1286 0.092 0.16 0.0017 0.09 0.14 0.1167 0.16 0 D 1.0 D 0.998 D 0.002 N 1.000 P 3.385 M -2.89 D -0.776 T 0.028 T 0.228 2.925 15.75 2.49 1.038 0.698 7.804 2.925452 2.925452 0 0.15 0.142533 NA 0.123 NA 13.9175334 283 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,CTCF_(SC-5916),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 283 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),TBP,HNF4A,HEY1,HNF4G_(SC-6558),TAF1,Pol2 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 284 3 58118555 58118555 G A exonic FLNB NA nonsynonymous SNV FLNB:NM_001164318:exon26:c.G4411A:p.V1471M,FLNB:NM_001164319:exon26:c.G4411A:p.V1471M,FLNB:NM_001457:exon26:c.G4411A:p.V1471M,FLNB:NM_001164317:exon27:c.G4504A:p.V1502M exonic ENSG00000136068 NA nonsynonymous SNV ENSG00000136068:ENST00000419752:exon25:c.G3904A:p.V1302M,ENSG00000136068:ENST00000493452:exon25:c.G3904A:p.V1302M,ENSG00000136068:ENST00000295956:exon26:c.G4411A:p.V1471M,ENSG00000136068:ENST00000348383:exon26:c.G4411A:p.V1471M,ENSG00000136068:ENST00000357272:exon26:c.G4411A:p.V1471M,ENSG00000136068:ENST00000358537:exon26:c.G4411A:p.V1471M,ENSG00000136068:ENST00000429972:exon26:c.G4411A:p.V1471M,ENSG00000136068:ENST00000490882:exon27:c.G4504A:p.V1502M Score=460;Name=lod=99 NA 3p14.3 NA Name=MafK_(ab50322) NA NA rs12632456 0.56 0.56 0.58 0.608227 0.2833 0.9692 0.4813 0.6422 0.6145 0.28 0.97 0.42 0.64 0.3952 0.97 0.09 T 0.877 P 0.423 B 0.001 D 0.012 P 2.66 M -2.37 D -0.985 T 0.000 T 0.138 3.592 18.29 2.75 0.228 2.951 5.588 3.592206 3.592206 0 0.245233 0.583976 NA 0.5 NA 13.9096004 285 22 24179922 24179922 G C exonic DERL3 NA nonsynonymous SNV DERL3:NM_001002862:exon5:c.C447G:p.F149L,DERL3:NM_001135751:exon5:c.C447G:p.F149L,DERL3:NM_198440:exon5:c.C447G:p.F149L exonic ENSG00000099958 NA nonsynonymous SNV ENSG00000099958:ENST00000318109:exon5:c.C447G:p.F149L,ENSG00000099958:ENST00000406855:exon5:c.C447G:p.F149L,ENSG00000099958:ENST00000476077:exon5:c.C447G:p.F149L Score=479;Name=lod=118 NA 22q11.23 NA NA NA NA rs3177243 0.15 0.15 0.147 0.127396 0.1431 0.0159 0.1427 0.2648 0.0297 0.15 0.02 0.15 0.28 0.135 0.28 0.05 D 0.329 B 0.246 B 0.000 D 0.000 P 2.29 M 1.54 T -1.062 T 0.000 T 0.517 4.152 21.5 5.27 2.655 3.908 18.322 4.152228 4.152228 0.02 0.158953 0.255107 ID=COSM1130487;OCCURENCE=1(prostate) 0.159 NA 13.8962804 286 5 140572763 140572763 C G exonic PCDHB10 NA nonsynonymous SNV PCDHB10:NM_018930:exon1:c.C638G:p.T213R exonic ENSG00000120324 NA nonsynonymous SNV ENSG00000120324:ENST00000239446:exon1:c.C638G:p.T213R Score=289;Name=lod=20 NA 5q31.3 NA NA NA NA rs2907323 0.1 0.1 0.075 0.096845 0.1431 0.0933 0.0879 0.0166 0.1677 0.15 0.09 0.11 0.02 0.1401 0.16 0 D 0.977 D 0.934 D . . 0.230 P 2.55 M 4.1 T -1.086 T 0.000 T 0.26 2.378 13.91 3.41 1.930 -0.561 6.831 2.378234 2.378234 0 0.163372 0.048343 NA 0.065 NA 13.8867614 287 11 27362359 27362359 T G exonic CCDC34 NA nonsynonymous SNV CCDC34:NM_030771:exon5:c.A791C:p.E264A exonic ENSG00000109881 NA nonsynonymous SNV ENSG00000109881:ENST00000328697:exon5:c.A791C:p.E264A Score=604;Name=lod=380 NA 11p14.1 Score=838;Name=V$TST1_01 NA NA NA rs17244028 0.2 0.2 0.188 0.161342 0.34 0.0734 0.2637 0.056 0.138 0.34 0.07 0.28 0.07 0.2625 0.35 0.1 T 0.957 D 0.86 P 0.000 D 0.000 P 1.56 L 1.81 T -0.931 T 0.000 T 0.216 2.368 13.88 5.92 2.266 3.873 11.224 2.367807 2.367807 0.01 0.352291 0.108765 NA 0.13 NA 13.8785424 287 10 115381747 115381747 G A exonic NRAP NA nonsynonymous SNV NRAP:NM_006175:exon23:c.C2545T:p.R849C,NRAP:NM_001261463:exon24:c.C2650T:p.R884C,NRAP:NM_198060:exon24:c.C2650T:p.R884C exonic ENSG00000197893 NA nonsynonymous SNV ENSG00000197893:ENST00000360478:exon23:c.C2545T:p.R849C,ENSG00000197893:ENST00000369360:exon23:c.C2569T:p.R857C,ENSG00000197893:ENST00000359988:exon24:c.C2650T:p.R884C,ENSG00000197893:ENST00000369358:exon24:c.C2674T:p.R892C Score=439;Name=lod=81 NA 10q25.3 NA NA NA NA rs868738 0.24 0.24 0.212 0.209465 0.3211 0.1786 0.4409 0.0446 0.1851 0.33 0.17 0.4 0.06 0.2988 0.4 0.01 D 0.986 D 0.761 P 0.000 D 0.000 P 0.805 L 1.15 T -0.934 T 0.000 T 0.281 4.187 21.7 5.08 1.529 4.833 8.356 4.187415 4.187415 0.03 0.337674 0.103268 ID=COSM147047;OCCURENCE=1(stomach),1(large_intestine) 0.239 NA 13.8757594 287 11 123624658 123624658 G T exonic OR6X1 NA nonsynonymous SNV OR6X1:NM_001005188:exon1:c.C569A:p.T190N exonic ENSG00000221931 NA nonsynonymous SNV ENSG00000221931:ENST00000327930:exon1:c.C569A:p.T190N Score=284;Name=lod=19 NA 11q24.1 Score=866;Name=V$YY1_01 NA NA NA rs12364099 0.09 0.09 0.089 0.077476 0.1799 0.0238 0.0937 0.0219 0.091 0.17 0.02 0.09 0.02 0.1219 0.17 0 D 0.029 B 0.041 B . . 0.893 P 2.72 M 8.42 T -1.020 T 0.000 T 0.033 1.894 12.29 3.46 1.080 1.523 11.570 1.894437 1.894437 0.01 0.156083 0.042461 NA 0.065 NA 13.8754504 288 4 155241572 155241572 G A exonic DCHS2 NA nonsynonymous SNV DCHS2:NM_017639:exon14:c.C3614T:p.S1205L exonic ENSG00000197410 NA nonsynonymous SNV ENSG00000197410:ENST00000357232:exon14:c.C3614T:p.S1205L Score=403;Name=lod=58 NA 4q31.3 NA Name=JunD NA NA rs11935573 0.27 0.27 0.266 0.262979 0.3161 0.3552 0.2997 0.0613 0.3599 0.33 0.37 0.32 0.05 0.3185 0.37 0.06 T 0.998 D 0.891 P 0.143 N 0.000 P 2.33 M 0.95 T -1.010 T 0.000 T 0.368 4.548 24.6 5.56 2.619 4.281 14.384 4.548489 4.548489 0 0.324651 0.10463 ID=COSM149748;OCCURENCE=1(stomach),1(prostate) 0.239 NA 13.8740824 289 10 11789382 11789382 G A exonic ECHDC3 NA nonsynonymous SNV ECHDC3:NM_024693:exon2:c.G205A:p.A69T exonic ENSG00000134463 NA nonsynonymous SNV ENSG00000134463:ENST00000379215:exon2:c.G205A:p.A69T,ENSG00000134463:ENST00000420401:exon2:c.G364A:p.A122T Score=410;Name=lod=62 NA 10p14 NA Name=GR Name=26 NA rs4750090 0.93 0.93 0.914 0.913538 0.997 1 0.9741 0.6891 0.999 1 1 0.98 0.71 0.9744 1 0.06 T 0.989 D 0.846 P 0.000 D 0.000 P 3.06 M 0.44 T -1.025 T 0.000 T 0.785 5.176 32 5.53 2.596 6.391 18.433 5.175724 5.175724 0.15 0.997907 0.740581 NA 0.891 NA 13.8640264 290 14 24679877 24679877 C T exonic CHMP4A NA nonsynonymous SNV CHMP4A:NM_014169:exon4:c.G586A:p.G196R exonic ENSG00000100926,ENSG00000254505,ENSG00000254692 NA nonsynonymous SNV ENSG00000254505:ENST00000347519:exon4:c.G586A:p.G196R,ENSG00000254692:ENST00000530611:exon4:c.G457A:p.G153R,ENSG00000254505:ENST00000533011:exon4:c.G487A:p.G163R,ENSG00000100926:ENST00000556387:exon4:c.G457A:p.G153R Score=561;Name=lod=253 NA 14q12 NA NA NA NA rs2295322 0.38 0.38 0.362 0.351238 0.504 0.2361 0.6196 0.2489 0.2607 0.48 0.2 0.62 0.28 0.4591 0.62 0.01 D 0.969 D 0.949 D 0.011 N 0.000 P 3.735 H -0.68 T -0.911 T 0.000 T 0.368 4.367 23 4.3 1.392 5.529 10.695 4.367327 4.367327 0.02 0.516628 0.279165 NA 0.457 NA 13.8536054 290 1 86900372 86900372 C G exonic CLCA2 NA nonsynonymous SNV CLCA2:NM_006536:exon6:c.C916G:p.Q306E exonic ENSG00000137975 NA nonsynonymous SNV ENSG00000137975:ENST00000370565:exon6:c.C916G:p.Q306E Score=300;Name=lod=22 NA 1p22.3 NA NA NA NA rs17409304 0.25 0.25 0.221 0.234824 0.3449 0.1796 0.3228 0.1513 0.229 0.35 0.15 0.32 0.15 0.2977 0.35 0.06 T 0.976 D 0.523 P 0.000 D 0.007 P 2.815 M 3.87 T -1.097 T 0.018 T 0.114 4.445 23.7 5.21 2.941 3.913 16.064 4.445471 4.445471 0.03 0.340233 0.170222 NA 0.268 NA 13.8505004 290 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 291 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 291 17 7385454 7385454 G A exonic SLC35G6 NA nonsynonymous SNV SLC35G6:NM_001102614:exon2:c.G151A:p.A51T exonic ENSG00000259224 NA nonsynonymous SNV ENSG00000259224:ENST00000412468:exon2:c.G151A:p.A51T Score=609;Name=lod=397 NA 17p13.1 Score=765;Name=V$MYOGNF1_01 NA NA NA rs3760422 0.18 0.18 0.119 0.185304 0.161 0.1935 0.2392 0.1165 0.2566 0.16 0.21 0.25 0.11 0.1828 0.25 0.37 T 0.999 D 0.997 D . . 0.000 P 0.695 N 1.64 T -1.035 T 0.000 T 0.145 1.678 11.57 4.04 1.959 2.163 11.403 1.678465 1.678465 0.57 0.147476 0.133227 NA 0.072 NA 13.8420574 292 1 186321242 186321242 C T exonic TPR NA nonsynonymous SNV TPR:NM_003292:exon19:c.G2335A:p.V779I exonic ENSG00000047410 NA nonsynonymous SNV ENSG00000047410:ENST00000367478:exon19:c.G2335A:p.V779I Score=654;Name=lod=609 NA 1q31.1 Score=771;Name=V$EVI1_01 NA NA NA rs61744267 0.11 0.11 0.101 0.0870607 0.1849 0.0714 0.121 0.0234 0.0644 0.2 0.06 0.12 0.01 0.1333 0.2 0.41 T 0.985 D 0.437 B 0.001 D 0.000 P 1.7 L 1.83 T -1.045 T 0.000 T 0.111 4.422 23.5 5.75 2.711 4.876 19.544 4.421789 4.421789 0.06 0.180511 0.052442 ID=COSM146711,COSM328079;OCCURENCE=1(stomach),1(pancreas) 0.043 NA 13.8346224 292 6 28478555 28478555 A T exonic GPX6 NA unknown UNKNOWN exonic ENSG00000198704 NA unknown UNKNOWN Score=478;Name=lod=117 NA 6p22.1 Score=793;Name=V$SRF_C NA NA NA rs35062161 0.04 0.04 0.029 0.0321486 0.0586 0.003 0.0317 0.0416 0.0225 0.06 0.0035 0.02 0.06 0.0459 0.062 0.2 T 0.992 D 0.945 D 0.094 N 0.995 D 1.63 L 3.82 T -0.956 T 0.016 T 0.089 2.542 14.46 4.12 2.067 7.539 11.740 2.542253 2.542253 0 0.06202 0.039742 NA 0.043 NA 13.83348 292 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 292 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 292 7 44578740 44578740 C G exonic NPC1L1 NA nonsynonymous SNV NPC1L1:NM_001101648:exon2:c.G1256C:p.S419T,NPC1L1:NM_013389:exon2:c.G1256C:p.S419T exonic ENSG00000015520 NA nonsynonymous SNV ENSG00000015520:ENST00000289547:exon2:c.G1256C:p.S419T,ENSG00000015520:ENST00000381160:exon2:c.G1256C:p.S419T,ENSG00000015520:ENST00000423141:exon2:c.G1256C:p.S419T,ENSG00000015520:ENST00000546276:exon2:c.G1256C:p.S419T NA NA 7p13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71 T 0.763 P 0.229 B 0.002 N 1.000 N 1.735 L -2.37 D -0.463 T 0.515 D 0.168 0.25 5.348 4.15 1.094 2.225 11.909 0.249596 NA 0.97 NA NA NA NA NA 13.8333334 292 15 40018945 40018945 C A exonic FSIP1 NA nonsynonymous SNV FSIP1:NM_152597:exon9:c.G895T:p.D299Y exonic ENSG00000150667 NA nonsynonymous SNV ENSG00000150667:ENST00000350221:exon9:c.G895T:p.D299Y NA NA 15q14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003336 NA . . 0.994 D 0.808 P 0.000 D 1.000 N 2.175 M 1.65 T -1.032 T 0.120 T 0.597 1.136 9.629 2.7 0.866 1.024 6.509 1.135829 NA 0.02 NA NA NA NA NA 13.8333 292 12 39726179 39726179 T C exonic KIF21A NA nonsynonymous SNV KIF21A:NM_001173465:exon19:c.A2780G:p.K927R,KIF21A:NM_001173463:exon20:c.A2849G:p.K950R,KIF21A:NM_017641:exon20:c.A2849G:p.K950R,KIF21A:NM_001173464:exon21:c.A2888G:p.K963R exonic ENSG00000139116 NA nonsynonymous SNV ENSG00000139116:ENST00000551264:exon1:c.A32G:p.K11R,ENSG00000139116:ENST00000541463:exon19:c.A2780G:p.K927R,ENSG00000139116:ENST00000361961:exon20:c.A2849G:p.K950R,ENSG00000139116:ENST00000544797:exon20:c.A2849G:p.K950R,ENSG00000139116:ENST00000361418:exon21:c.A2888G:p.K963R,ENSG00000139116:ENST00000395670:exon21:c.A2888G:p.K963R Score=550;Name=lod=230 NA 12q12 NA NA NA NA rs370441394 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003297 0.0002 0.28 T 0.988 D 0.717 P 0.001 N 0.976 D 1.555 L 0.28 T -0.723 T 0.221 T 0.334 2.449 14.15 4.53 0.985 4.893 11.332 2.449259 2.449259 0.59 0.000233 0 NA NA NA 13.8330674 292 19 35435059 35435059 G A exonic ZNF30 NA nonsynonymous SNV ZNF30:NM_001099437:exon5:c.G1192A:p.E398K,ZNF30:NM_001099438:exon5:c.G1192A:p.E398K,ZNF30:NM_194325:exon5:c.G1189A:p.E397K exonic ENSG00000168661 NA nonsynonymous SNV ENSG00000168661:ENST00000303586:exon5:c.G1192A:p.E398K,ENSG00000168661:ENST00000439785:exon5:c.G1192A:p.E398K,ENSG00000168661:ENST00000601142:exon5:c.G1189A:p.E397K,ENSG00000168661:ENST00000426813:exon6:c.G946A:p.E316K Score=336;Name=lod=31 NA 19q13.11 NA Name=SETDB1,ZNF274 Name=5 NA rs199540599 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005791 0.0005 0.02 D 0.992 D 0.681 P . . 0.991 N 1 L 1.86 T -1.054 T 0.064 T 0.127 3.361 17.33 1.0 0.205 5.892 8.138 3.361323 3.361323 0.02 0.000465 0.000227 NA NA NA 13.8328105 292 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 292 11 5758062 5758062 T C exonic OR56B1 NA nonsynonymous SNV OR56B1:NM_001005180:exon1:c.T316C:p.C106R exonic ENSG00000181023 NA nonsynonymous SNV ENSG00000181023:ENST00000317121:exon1:c.T316C:p.C106R Score=414;Name=lod=64 NA 11p15.4 Score=793;Name=V$GFI1_01 NA NA NA rs7397032 0.73 0.73 0.74 0.739617 0.833 0.748 0.6571 0.6611 0.7996 0.84 0.74 0.67 0.62 0.8171 0.86 0.01 D 1.0 D 0.999 D 0.000 U 0.000 P 4 H 6.67 T -1.016 T 0.000 T 0.492 3.591 18.29 4.78 1.060 5.965 10.239 3.591444 3.591444 0.01 0.85804 0.677192 NA 0.761 NA 13.8251934 293 1 33236255 33236255 G A exonic KIAA1522 NA nonsynonymous SNV KIAA1522:NM_001198972:exon6:c.G1298A:p.R433H,KIAA1522:NM_020888:exon6:c.G1475A:p.R492H exonic ENSG00000162522 NA nonsynonymous SNV ENSG00000162522:ENST00000373480:exon6:c.G1298A:p.R433H,ENSG00000162522:ENST00000373481:exon6:c.G1331A:p.R444H,ENSG00000162522:ENST00000401073:exon6:c.G1475A:p.R492H NA NA 1p35.1 Score=732;Name=V$PAX4_04 NA NA NA rs116386430 0.0009 0.0009 0.001 0.00139776 0.004 NA NA NA 0.0031 0.0026 NA NA NA 0.003 0.0032 0.04 D 0.956 P 0.301 B 0.000 D 1.000 N 1.7 L 2.53 T -1.043 T 0.033 T 0.688 2.762 15.2 3.62 2.225 2.814 12.297 2.762329 2.762329 0.03 0.003214 0.000241 NA NA NA 13.8231194 293 15 63889941 63889941 A G exonic FBXL22 NA nonsynonymous SNV FBXL22:NM_203373:exon1:c.A350G:p.D117G exonic ENSG00000197361 NA nonsynonymous SNV ENSG00000197361:ENST00000360587:exon1:c.A350G:p.D117G,ENSG00000197361:ENST00000534939:exon1:c.A350G:p.D117G,ENSG00000197361:ENST00000539570:exon1:c.A332G:p.D111G,ENSG00000197361:ENST00000560325:exon1:c.A41G:p.D14G Score=448;Name=lod=88 NA 15q22.31 NA NA Name=74 NA rs139954123 0.0027 0.0027 0.004 0.00139776 0.007 NA NA NA NA 0.01 NA NA NA 0.0023 0.01 0.07 T 0.664 P 0.201 B 0.227 N 0.561 D 1.245 L 1.48 T -0.974 T 0.044 T 0.27 3.089 16.32 4.58 2.179 2.582 11.278 3.088963 3.088963 0.06 0.002442 0.000454 NA NA NA 13.8215914 293 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 294 19 3179884 3179884 G T exonic S1PR4 NA nonsynonymous SNV S1PR4:NM_003775:exon1:c.G1094T:p.R365L exonic ENSG00000125910 NA nonsynonymous SNV ENSG00000125910:ENST00000246115:exon1:c.G1094T:p.R365L NA NA 19p13.3 NA Name=NRSF Name=6 NA rs3746072 0.01 0.01 0.009 0.00758786 0.004 0.0188 0.0072 NA 0.0102 0.01 0.02 0.01 NA 0.0073 0.022 0.52 T 0.956 P 0.421 B 0.430 N 1.000 N 0.895 L -1.51 D -0.848 T 0.191 T 0.518 0.576 7.111 3.94 2.053 1.196 11.574 0.576106 NA 0.12 0.007233 0.000927 NA 0.014 NA 13.8148004 294 17 19474875 19474875 C T exonic SLC47A1 NA nonsynonymous SNV SLC47A1:NM_018242:exon15:c.C1394T:p.A465V exonic ENSG00000142494 NA nonsynonymous SNV ENSG00000142494:ENST00000270570:exon15:c.C1394T:p.A465V,ENSG00000142494:ENST00000395585:exon15:c.C1394T:p.A465V,ENSG00000142494:ENST00000457293:exon15:c.C1394T:p.A465V Score=409;Name=lod=61 NA 17p11.2 NA NA NA NA rs111653425 0.0037 0.0037 0.003 0.00219649 0.007 NA 0.0043 NA 0.001 0.01 NA 0.01 NA 0.0064 0.01 0.56 T 0.729 P 0.413 B 0.001 D 1.000 D 1.335 L 1.48 T -1.124 T 0.049 T 0.343 2.507 14.34 5.4 2.539 2.731 10.160 2.506541 2.506541 0.17 0.007907 0.003858 NA NA NA 13.8120264 294 19 57058998 57058998 C G exonic ZFP28 NA nonsynonymous SNV ZFP28:NM_020828:exon3:c.C422G:p.S141W exonic ENSG00000196867 NA nonsynonymous SNV ENSG00000196867:ENST00000301318:exon3:c.C422G:p.S141W,ENSG00000196867:ENST00000589836:exon3:c.C311G:p.S104W,ENSG00000196867:ENST00000591844:exon3:c.C422G:p.S141W NA NA 19q13.43 NA Name=CTCF,Rad21,SMC3_(ab9263) Name=3 NA rs34136271 0.12 0.12 0.106 0.116414 0.1779 0.0675 0.1441 0.0567 0.1646 0.18 0.08 0.18 0.05 0.156 0.19 0.02 D 0.99 D 0.923 D 0.006 N 1.000 P 2.44 M 3.95 T -1.060 T 0.000 T 0.392 2.727 15.08 1.65 0.403 1.402 7.827 2.726692 2.726692 0.05 0.188953 0.078529 NA 0.101 NA 13.8104804 294 14 77793207 77793207 G A exonic GSTZ1 NA nonsynonymous SNV GSTZ1:NM_145870:exon3:c.G94A:p.E32K,GSTZ1:NM_145871:exon3:c.G94A:p.E32K exonic ENSG00000100577 NA nonsynonymous SNV ENSG00000100577:ENST00000216465:exon3:c.G94A:p.E32K,ENSG00000100577:ENST00000349555:exon3:c.G94A:p.E32K,ENSG00000100577:ENST00000553586:exon3:c.G97A:p.E33K,ENSG00000100577:ENST00000554279:exon3:c.G94A:p.E32K,ENSG00000100577:ENST00000556627:exon3:c.G94A:p.E32K Score=346;Name=lod=34 NA 14q24.3 NA NA NA NA rs7975 0.34 0.34 0.34 0.311502 0.3231 0.4683 0.2118 0.3011 0.2229 0.34 0.48 0.22 0.26 0.3748 0.48 0.02 D 0.996 D 0.905 P 0.000 D 0.000 P . . 2.26 T -0.898 T 0.000 T 0.254 3.547 18.09 5.57 2.614 7.442 16.458 3.546893 3.546893 0.04 0.327209 0.294825 NA 0.326 NA 13.8082244 295 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=Pol2,BAF155 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 295 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=CTCF,Rad21 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 295 18 34273279 34273279 C G exonic FHOD3 NA nonsynonymous SNV FHOD3:NM_025135:exon14:c.C1604G:p.A535G exonic ENSG00000134775 NA nonsynonymous SNV ENSG00000134775:ENST00000359247:exon13:c.C1553G:p.A518G,ENSG00000134775:ENST00000445677:exon13:c.C1490G:p.A497G,ENSG00000134775:ENST00000257209:exon14:c.C1604G:p.A535G,ENSG00000134775:ENST00000590592:exon17:c.C2129G:p.A710G Score=289;Name=lod=20 NA 18q12.2 NA NA NA NA rs61735993 0.12 0.12 0.101 0.0902556 0.2187 0.001 0.1196 0.0635 0.0654 0.21 0.0017 0.15 0.07 0.1358 0.21 0.05 D 0.994 D 0.97 D 0.006 N 0.000 P 1.78 L 2.01 T -1.099 T 0.000 T 0.047 2.072 12.88 4.69 1.336 5.271 11.351 2.071754 2.071754 0 0.181047 0.072628 NA 0.21 NA 13.7977864 296 19 38896204 38896204 T G exonic FAM98C NA nonsynonymous SNV FAM98C:NM_174905:exon6:c.T679G:p.C227G exonic ENSG00000130244 NA nonsynonymous SNV ENSG00000130244:ENST00000343358:exon5:c.T601G:p.C201G,ENSG00000130244:ENST00000252530:exon6:c.T679G:p.C227G Score=371;Name=lod=43 NA 19q13.2 Score=841;Name=V$CREBP1_Q2 NA NA NA rs117354953 0.01 0.01 0.008 0.00479233 0.0169 NA 0.0058 0.0008 0.002 0.02 0.0017 0.01 0.0041 0.0095 0.022 0.27 T 0.902 P 0.268 B 0.267 N 1.000 D 2.475 M 0.89 T -1.050 T 0.062 T 0.116 2.259 13.51 3.99 0.738 2.019 8.856 2.259355 2.259355 0 0.014785 0.002741 NA 0.014 NA 13.7921484 296 7 151680072 151680072 T C exonic GALNTL5 NA nonsynonymous SNV GALNTL5:NM_145292:exon4:c.T370C:p.C124R exonic ENSG00000106648 NA nonsynonymous SNV ENSG00000106648:ENST00000392800:exon4:c.T370C:p.C124R,ENSG00000106648:ENST00000431418:exon5:c.T370C:p.C124R Score=300;Name=lod=22 NA 7q36.1 NA NA NA NA rs6960270 0.83 0.83 0.805 0.801118 0.8449 0.8403 0.8602 0.739 0.7577 0.86 0.8 0.86 0.78 0.8414 0.86 0 D 1.0 D 0.997 D 0.000 D 0.000 P 2.89 M 0.32 T -1.019 T 0.000 T 0.316 3.978 20.4 4.65 2.056 3.525 12.349 3.97756 3.97756 0.01 0.855814 0.748071 NA 0.812 NA 13.7912194 296 4 62758491 62758491 G A exonic LPHN3 NA nonsynonymous SNV LPHN3:NM_015236:exon7:c.G1394A:p.R465Q exonic ENSG00000150471 NA nonsynonymous SNV ENSG00000150471:ENST00000504896:exon7:c.G1394A:p.R465Q,ENSG00000150471:ENST00000506700:exon7:c.G1394A:p.R465Q,ENSG00000150471:ENST00000508946:exon7:c.G1394A:p.R465Q,ENSG00000150471:ENST00000514157:exon7:c.G1394A:p.R465Q,ENSG00000150471:ENST00000514996:exon7:c.G1394A:p.R465Q,ENSG00000150471:ENST00000545650:exon7:c.G1394A:p.R465Q,ENSG00000150471:ENST00000506720:exon8:c.G1598A:p.R533Q,ENSG00000150471:ENST00000506746:exon8:c.G1598A:p.R533Q,ENSG00000150471:ENST00000507164:exon8:c.G1598A:p.R533Q,ENSG00000150471:ENST00000507625:exon8:c.G1598A:p.R533Q,ENSG00000150471:ENST00000508693:exon8:c.G1598A:p.R533Q,ENSG00000150471:ENST00000509896:exon8:c.G1598A:p.R533Q,ENSG00000150471:ENST00000511324:exon8:c.G1598A:p.R533Q,ENSG00000150471:ENST00000512091:exon9:c.G1394A:p.R465Q,ENSG00000150471:ENST00000514591:exon9:c.G1394A:p.R465Q Score=446;Name=lod=87 NA 4q13.1 Score=966;Name=V$AREB6_04 NA NA NA rs35106420 0.01 0.01 0.004 0.00579073 0.0159 0.001 0.0014 NA 0.0112 0.01 0.0017 NA NA 0.0118 0.015 0.59 T 0.951 P 0.284 B 0.003 N 0.928 D 0.695 N -0.25 T -0.914 T 0.085 T 0.309 2.04 12.78 4.98 1.451 4.674 16.027 2.040446 2.040446 0.28 0.015213 0.002957 ID=COSM1495849,COSM1495848,COSM1495847;OCCURENCE=1(kidney) NA NA 13.7904204 296 14 23829490 23829490 C T exonic EFS NA nonsynonymous SNV EFS:NM_001277174:exon2:c.G19A:p.V7M,EFS:NM_032459:exon2:c.G19A:p.V7M,EFS:NM_005864:exon3:c.G298A:p.V100M exonic ENSG00000100842 NA nonsynonymous SNV ENSG00000100842:ENST00000351354:exon2:c.G19A:p.V7M,ENSG00000100842:ENST00000429593:exon2:c.G19A:p.V7M,ENSG00000100842:ENST00000216733:exon3:c.G298A:p.V100M Score=289;Name=lod=20 NA 14q11.2 NA NA NA NA rs2231801 0.01 0.01 0.005 0.00359425 0.0109 NA 0.0058 0.0015 0.001 0.01 NA 0.01 0.002 0.0125 0.022 0.16 T 0.773 P 0.428 B 0.001 N 0.550 D 2.045 M 0.21 T -0.573 T 0.123 T 0.228 2.725 15.07 4.42 1.460 2.185 12.681 2.725086 2.725086 0 0.019884 0.001816 NA 0.014 NA 13.7900494 296 1 171755182 171755182 G A exonic METTL13 NA nonsynonymous SNV METTL13:NM_001007239:exon3:c.G609A:p.M203I,METTL13:NM_014955:exon3:c.G819A:p.M273I,METTL13:NM_015935:exon3:c.G1077A:p.M359I exonic ENSG00000010165 NA nonsynonymous SNV ENSG00000010165:ENST00000361735:exon3:c.G1077A:p.M359I,ENSG00000010165:ENST00000362019:exon3:c.G819A:p.M273I,ENSG00000010165:ENST00000367737:exon3:c.G609A:p.M203I,ENSG00000010165:ENST00000458517:exon4:c.G1074A:p.M358I Score=473;Name=lod=112 NA 1q24.3 Score=935;Name=V$TCF11_01 NA Name=10 NA rs2232819 0.13 0.13 0.121 0.105032 0.1968 0.1329 0.1138 0.0212 0.089 0.21 0.13 0.12 0.03 0.1531 0.21 0.25 T 0.826 P 0.491 P 0.004 N 0.000 P 1.7 L 1.0 T -1.075 T 0.094 T 0.138 3.121 16.43 5.36 2.793 9.463 18.032 3.120562 3.120562 0.01 0.195 0.046981 ID=COSM146686;OCCURENCE=1(stomach) 0.145 NA 13.7884334 296 6 31602967 31602967 G A exonic PRRC2A NA nonsynonymous SNV PRRC2A:NM_004638:exon22:c.G5219A:p.R1740H,PRRC2A:NM_080686:exon22:c.G5219A:p.R1740H exonic ENSG00000204469 NA nonsynonymous SNV ENSG00000204469:ENST00000376007:exon22:c.G5219A:p.R1740H,ENSG00000204469:ENST00000376033:exon22:c.G5219A:p.R1740H Score=554;Name=lod=237 Name=Schizophrenia,Menopause (age at onset) 6p21.33 NA NA NA NA rs1046089 0.39 0.39 0.392 0.390176 0.3449 0.3512 0.3646 0.5431 0.2883 0.36 0.35 0.35 0.53 0.3573 0.53 0 D 0.957 D 0.513 P 0.005 N 0.042 P 1.1 L 4.66 T -0.732 T 0.005 T 0.176 2.822 15.4 5.51 2.873 3.354 16.451 2.82206 2.82206 0 0.345465 0.509532 NA 0.355 NA 13.7856684 297 21 45220483 45220483 A G exonic RRP1 NA nonsynonymous SNV RRP1:NM_003683:exon10:c.A977G:p.K326R exonic ENSG00000160214 NA nonsynonymous SNV ENSG00000160214:ENST00000497547:exon10:c.A977G:p.K326R Score=477;Name=lod=116 NA 21q22.3 NA NA NA NA rs915770 0.23 0.23 0.224 0.261581 0.1581 0.2292 0.3012 0.3366 0.272 0.15 0.23 0.24 0.33 0.2167 0.33 0 D 1.0 D 0.996 D 0.032 N 0.003 P 1.66 L 5.16 T -0.793 T 0.000 T 0.091 3.509 17.93 5.2 1.964 1.606 11.493 3.509174 3.509174 0.33 0.17633 0.309002 ID=COSM149240;OCCURENCE=1(stomach) 0.239 NA 13.7822034 297 5 160042903 160042903 G T exonic ATP10B NA nonsynonymous SNV ATP10B:NM_025153:exon17:c.C2595A:p.N865K exonic ENSG00000118322 NA nonsynonymous SNV ENSG00000118322:ENST00000520108:exon6:c.C1419A:p.N473K,ENSG00000118322:ENST00000327245:exon17:c.C2595A:p.N865K Score=435;Name=lod=78 NA 5q34 NA NA NA NA rs61734665 0.01 0.01 0.005 0.00938498 0.0189 NA 0.0144 0.0015 0.0164 0.01 NA 0.01 NA 0.0152 0.023 . . 0.989 D 0.902 P 0.000 D 0.995 D 2.015 M 1.88 T -0.922 T 0.116 T 0.2 3.816 19.38 0.907 0.079 2.262 8.841 3.815599 3.815599 0.01 0.022997 0.004124 NA NA NA 13.7762364 297 17 11865462 11865462 G A exonic DNAH9 NA nonsynonymous SNV DNAH9:NM_004662:exon14:c.G2058A:p.M686I,DNAH9:NM_001372:exon68:c.G13122A:p.M4374I exonic ENSG00000007174 NA nonsynonymous SNV ENSG00000007174:ENST00000396001:exon14:c.G2058A:p.M686I,ENSG00000007174:ENST00000454412:exon67:c.G12894A:p.M4298I,ENSG00000007174:ENST00000262442:exon68:c.G13122A:p.M4374I Score=470;Name=lod=108 NA 17p12 Score=936;Name=V$GATA2_01 NA NA NA rs1990236 0.18 0.18 0.176 0.160144 0.1948 0.1815 0.2392 0.1021 0.1247 0.22 0.18 0.24 0.08 0.1841 0.24 0.04 D 0.35 B 0.35 B 0.000 D 0.000 P 1.265 L 3.09 T -0.911 T 0.000 T 0.176 2.725 15.07 4.05 2.618 6.366 13.894 2.725497 2.725497 0.02 0.178837 0.125965 NA 0.159 NA 13.7755964 298 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$NKX3A_01 NA NA NA rs2074469 0.18 0.18 0.162 0.178714 0.1839 0.249 0.245 0.0756 0.1933 0.19 0.24 0.24 0.07 0.19 0.24 0.07 T 0.997 D 0.995 D 0.002 U 0.000 P 2.05 M 6.65 T -0.668 T 0.003 T 0.133 2.177 13.24 3.6 1.634 0.455 12.35 2.177007 2.177007 NA 0.187846 0.083388 NA 0.152 NA 13.7715874 298 21 19169155 19169155 G C exonic C21orf91 NA nonsynonymous SNV C21orf91:NM_001100420:exon3:c.C408G:p.D136E,C21orf91:NM_001100421:exon3:c.C408G:p.D136E,C21orf91:NM_017447:exon3:c.C408G:p.D136E exonic ENSG00000154642 NA nonsynonymous SNV ENSG00000154642:ENST00000284881:exon3:c.C408G:p.D136E,ENSG00000154642:ENST00000400558:exon3:c.C408G:p.D136E,ENSG00000154642:ENST00000400559:exon3:c.C408G:p.D136E,ENSG00000154642:ENST00000405964:exon3:c.C408G:p.D136E Score=502;Name=lod=146 NA 21q21.1 Score=738;Name=V$PAX4_04 Name=FOXA2_(SC-6554),FOXA1_(SC-101058) NA NA rs1047978 0.3 0.3 0.279 0.260583 0.3996 0.3383 0.3112 0.0431 0.2955 0.4 0.37 0.33 0.05 0.319 0.4 . . 0.957 D 0.545 P 0.000 D 0.000 P 2.135 M 1.83 T -0.919 T 0.000 T 0.148 3.565 18.17 3.36 0.924 0.841 9.608 3.565398 3.565398 0.05 0.343635 0.070685 NA 0.254 NA 13.7710984 298 9 116082647 116082647 C G exonic WDR31 NA nonsynonymous SNV WDR31:NM_001012361:exon9:c.G770C:p.C257S,WDR31:NM_145241:exon9:c.G767C:p.C256S exonic ENSG00000148225 NA nonsynonymous SNV ENSG00000148225:ENST00000374195:exon8:c.G395C:p.C132S,ENSG00000148225:ENST00000341761:exon9:c.G767C:p.C256S,ENSG00000148225:ENST00000374193:exon9:c.G770C:p.C257S Score=540;Name=lod=209 NA 9q32 NA NA NA NA rs41307479 0.1 0.1 0.082 0.101837 0.1879 0.0456 0.0922 0.0098 0.2025 0.2 0.04 0.12 0.01 0.1703 0.21 0.73 T 0.946 P 0.67 P 0.000 D 0.000 P 2.56 M 3.4 T -0.925 T 0.000 T 0.348 4.21 21.9 5.84 2.762 5.162 16.215 4.210103 4.210103 0.01 0.208953 0.046074 NA 0.116 NA 13.7661804 299 19 11358799 11358799 G A exonic DOCK6 NA nonsynonymous SNV DOCK6:NM_020812:exon7:c.C749T:p.P250L exonic ENSG00000130158 NA nonsynonymous SNV ENSG00000130158:ENST00000294618:exon7:c.C749T:p.P250L Score=259;Name=lod=15 NA 19p13.2 NA NA NA NA rs12978266 0.54 0.54 0.495 0.519569 0.7316 0.5367 0.634 0.118 0.7454 0.74 0.55 0.65 0.13 0.6466 0.74 0.01 D 0.982 D 0.839 P 0.000 D 0.000 P 2.175 M 2.35 T -1.052 T 0.000 T 0.324 3.479 17.8 5.05 2.343 7.197 15.901 3.479027 3.479027 0 0.701017 0.236082 NA 0.435 NA 13.7541164 299 16 4933939 4933939 G C exonic PPL NA nonsynonymous SNV PPL:NM_002705:exon22:c.C4717G:p.Q1573E exonic ENSG00000118898 NA nonsynonymous SNV ENSG00000118898:ENST00000592772:exon10:c.C2980G:p.Q994E,ENSG00000118898:ENST00000345988:exon22:c.C4717G:p.Q1573E,ENSG00000118898:ENST00000590782:exon22:c.C4711G:p.Q1571E Score=417;Name=lod=66 NA 16p13.3 NA NA NA NA rs2037912 0.45 0.45 0.424 0.402756 0.5318 0.6518 0.4712 0.0303 0.4683 0.54 0.66 0.46 0.04 0.5034 0.66 1 T 0.994 D 0.977 D 0.000 D 0.000 P 2.14 M 0.9 T -1.006 T 0.000 T 0.274 3.47 17.76 5.83 2.769 9.428 20.118 3.46961 3.46961 0.21 0.552093 0.11675 NA 0.507 NA 13.7460404 300 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=CTCF,ZNF263,Max,c-Myc 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 300 9 113192279 113192279 A T exonic SVEP1 NA nonsynonymous SNV SVEP1:NM_153366:exon34:c.T5536A:p.S1846T exonic ENSG00000165124 NA nonsynonymous SNV ENSG00000165124:ENST00000374469:exon34:c.T5467A:p.S1823T,ENSG00000165124:ENST00000401783:exon34:c.T5536A:p.S1846T Score=376;Name=lod=45 NA 9q31.3 NA NA NA NA rs142508835 0.01 0.01 0.007 0.0091853 0.0308 0.001 0.0014 0.0015 0.0112 0.03 0.0017 NA 0.0041 0.0278 0.037 0.64 T 0.709 P 0.133 B 0.000 D 1.000 D 1.69 L 1.9 T -1.093 T 0.013 T 0.081 1.115 9.548 4.96 2.208 6.918 13.646 1.115084 NA 0.83 0.037082 0.006775 NA 0.072 NA 13.7376514 301 11 17519742 17519742 C G exonic USH1C NA nonsynonymous SNV USH1C:NM_005709:exon19:c.G1557C:p.E519D,USH1C:NM_153676:exon24:c.G2457C:p.E819D exonic ENSG00000006611 NA nonsynonymous SNV ENSG00000006611:ENST00000527020:exon18:c.G1500C:p.E500D,ENSG00000006611:ENST00000527720:exon18:c.G1464C:p.E488D,ENSG00000006611:ENST00000318024:exon19:c.G1557C:p.E519D,ENSG00000006611:ENST00000005226:exon24:c.G2457C:p.E819D Score=487;Name=lod=127 NA 11p15.1 Score=693;Name=V$PPARG_02 Name=Max,Rad21,CEBPB,SMC3_(ab9263),USF-1,USF2,CTCF Name=17 NA rs1064074 0.43 0.43 0.434 0.420927 0.5636 0.3026 0.3718 0.4168 0.4366 0.56 0.28 0.4 0.44 0.4875 0.56 0.28 T 0.046 B 0.061 B 0.000 D 0.875 P 0 N 1.69 T -0.959 T 0.000 T 0.167 2.835 15.44 3.37 1.218 0.600 11.099 2.834873 2.834873 0.06 0.559399 0.428636 NA 0.507 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041279.1;CLNDSDB=.;CLNDSDBID=. 13.7228344 301 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 302 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 302 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 302 12 55886489 55886489 T A exonic OR6C68 NA nonsynonymous SNV OR6C68:NM_001005519:exon1:c.T328A:p.F110I exonic ENSG00000205327 NA nonsynonymous SNV ENSG00000205327:ENST00000379662:exon1:c.T343A:p.F115I,ENSG00000205327:ENST00000548615:exon1:c.T328A:p.F110I Score=278;Name=lod=18 NA 12q13.2 NA NA NA NA rs7304753 0.28 0.28 0.243 0.263778 0.1918 0.4931 0.1945 0.2156 0.2157 0.2 0.49 0.2 0.21 0.2231 0.49 0 D 0.999 D 0.964 D 0.000 D 0.965 P 1.1 L 5.65 T -0.823 T 0.000 T 0.15 2.584 14.6 4.77 2.138 0.026 14.446 2.583592 2.583592 0.01 0.208605 0.218339 NA 0.29 NA 13.7098284 303 3 50597092 50597092 G A exonic C3orf18 NA nonsynonymous SNV C3orf18:NM_001171740:exon5:c.C485T:p.A162V,C3orf18:NM_001171741:exon5:c.C485T:p.A162V,C3orf18:NM_001171743:exon5:c.C425T:p.A142V,C3orf18:NM_016210:exon6:c.C485T:p.A162V exonic ENSG00000088543 NA nonsynonymous SNV ENSG00000088543:ENST00000422619:exon3:c.C329T:p.A110V,ENSG00000088543:ENST00000426034:exon5:c.C485T:p.A162V,ENSG00000088543:ENST00000441239:exon5:c.C425T:p.A142V,ENSG00000088543:ENST00000449241:exon5:c.C485T:p.A162V,ENSG00000088543:ENST00000357203:exon6:c.C485T:p.A162V Score=482;Name=lod=121 NA 3p21.31 Score=864;Name=V$NGFIC_01 NA NA NA rs1034405 0.83 0.83 0.816 0.832668 0.8847 0.9365 0.8415 0.6445 0.9202 0.88 0.92 0.84 0.62 0.8753 0.92 0 D 1.0 D 0.998 D 0.000 D 0.000 P 0.695 N 1.05 T -1.053 T 0.000 T 0.571 4.918 28.4 5.06 2.362 6.262 16.217 4.917691 4.917691 0 0.871249 0.693166 NA 0.71 NA 13.7020844 303 2 228758554 228758554 A T exonic DAW1 NA nonsynonymous SNV DAW1:NM_178821:exon5:c.A361T:p.T121S exonic ENSG00000123977 NA nonsynonymous SNV ENSG00000123977:ENST00000309931:exon5:c.A361T:p.T121S,ENSG00000123977:ENST00000373666:exon5:c.A361T:p.T121S,ENSG00000123977:ENST00000545118:exon6:c.A316T:p.T106S Score=471;Name=lod=109 NA 2q36.3 Score=782;Name=V$ER_Q6 NA NA NA rs1715828 0.15 0.15 0.123 0.138978 0.2425 0.005 0.134 0.1452 0.1656 0.25 0.0035 0.16 0.16 0.1833 0.25 0.19 T 0.646 P 0.497 P 0.000 D 0.000 P 0.945 L 1.6 T -1.139 T 0.000 T 0.372 4.462 23.8 5.74 2.174 8.194 14.864 4.462288 4.462288 0 0.206512 0.159782 NA 0.138 NA 13.7010214 303 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 304 11 63072310 63072310 C T exonic SLC22A10 NA nonsynonymous SNV SLC22A10:NM_001039752:exon9:c.C1547T:p.P516L exonic ENSG00000184999 NA nonsynonymous SNV ENSG00000184999:ENST00000332793:exon9:c.C1547T:p.P516L Score=278;Name=lod=18 NA 11q12.3 NA NA NA NA rs1201559 0.48 0.48 0.434 0.437899 0.5586 0.4702 0.5043 0.2769 0.4509 0.58 0.42 0.6 0.29 0.519 0.6 0.01 D 1.0 D 0.999 D 0.000 U 0.000 P 3.81 H -1.25 T -0.947 T 0.000 T 0.218 3.316 17.15 2.73 1.566 4.196 11.365 3.316435 3.316435 0 0.568226 0.294256 NA 0.449 NA 13.6875074 304 11 48286256 48286256 C T exonic OR4X1 NA nonsynonymous SNV OR4X1:NM_001004726:exon1:c.C844T:p.P282S exonic ENSG00000176567 NA nonsynonymous SNV ENSG00000176567:ENST00000320048:exon1:c.C844T:p.P282S Score=346;Name=lod=34 NA 11p11.2 NA NA NA NA rs10838852 0.46 0.46 0.419 0.384185 0.5696 0.3829 0.5807 0.1641 0.3528 0.58 0.44 0.58 0.21 0.5123 0.58 0 D 1.0 D 0.999 D . . 0.727 P 4.2 H -0.04 T -0.899 T 0.000 T 0.323 2.284 13.59 4.29 2.368 4.351 14.616 2.283838 2.283838 0.01 0.566426 0.217856 NA 0.341 NA 13.6850074 305 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 305 11 121000774 121000774 T C exonic TECTA NA nonsynonymous SNV TECTA:NM_005422:exon9:c.T2795C:p.V932A exonic ENSG00000109927 NA nonsynonymous SNV ENSG00000109927:ENST00000264037:exon9:c.T2795C:p.V932A,ENSG00000109927:ENST00000392793:exon10:c.T2795C:p.V932A Score=422;Name=lod=69 NA 11q23.3 NA Name=Pol2-4H8 Name=3 NA rs520805 0.23 0.23 0.203 0.215655 0.2286 0.2381 0.2205 0.2035 0.1922 0.22 0.29 0.21 0.19 0.2141 0.29 0.53 T 0.003 B 0.003 B 0.000 N 0.223 P 1.135 L -0.99 T -1.075 T 0.000 T 0.148 0.013 4.083 4.65 1.026 2.885 11.707 0.01333 NA 0.75 0.210398 0.174989 NA 0.196 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038487.1;CLNDSDB=.;CLNDSDBID=. 13.6802354 306 21 10942923 10942923 G A exonic TPTE NA nonsynonymous SNV TPTE:NM_199260:exon10:c.C550T:p.R184W,TPTE:NM_199259:exon11:c.C610T:p.R204W,TPTE:NM_199261:exon12:c.C664T:p.R222W exonic ENSG00000166157 NA nonsynonymous SNV ENSG00000166157:ENST00000342420:exon10:c.C550T:p.R184W,ENSG00000166157:ENST00000298232:exon11:c.C610T:p.R204W,ENSG00000166157:ENST00000361285:exon12:c.C664T:p.R222W Score=518;Name=lod=170 NA 21p11.1 NA NA NA NA rs76723236 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1584 0.087 0.01 D 0.976 D 0.707 P 0.000 U 1.000 N 0.345 N -4.39 D 0.230 D 0.774 D 0.262 1.11 9.529 -0.258 -0.070 0.502 4.295 1.110372 NA 0.01 NA NA NA 0.101 NA 13.6749334 306 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 306 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 307 11 20065673 20065673 G T exonic NAV2 NA nonsynonymous SNV NAV2:NM_001111019:exon4:c.G312T:p.E104D,NAV2:NM_001111018:exon13:c.G2862T:p.E954D,NAV2:NM_145117:exon13:c.G3054T:p.E1018D,NAV2:NM_182964:exon13:c.G3054T:p.E1018D,NAV2:NM_001244963:exon14:c.G3123T:p.E1041D exonic ENSG00000166833 NA nonsynonymous SNV ENSG00000166833:ENST00000311043:exon3:c.G312T:p.E104D,ENSG00000166833:ENST00000525322:exon3:c.G312T:p.E104D,ENSG00000166833:ENST00000530408:exon4:c.G312T:p.E104D,ENSG00000166833:ENST00000533917:exon4:c.G312T:p.E104D,ENSG00000166833:ENST00000349880:exon13:c.G3054T:p.E1018D,ENSG00000166833:ENST00000360655:exon13:c.G2862T:p.E954D,ENSG00000166833:ENST00000396085:exon13:c.G3054T:p.E1018D,ENSG00000166833:ENST00000396087:exon14:c.G3123T:p.E1041D,ENSG00000166833:ENST00000527559:exon15:c.G2910T:p.E970D,ENSG00000166833:ENST00000540292:exon15:c.G2916T:p.E972D Score=409;Name=lod=61 NA 11p15.1 NA NA NA NA rs3802799 0.26 0.26 0.234 0.270367 0.2227 0.4504 0.2709 0.0242 0.4663 0.23 0.49 0.28 0.02 0.2505 0.49 . . 0.999 D 0.993 D 0.000 D 0.000 P 0.695 N 1.68 T -0.921 T 0.000 T 0.626 2.421 14.05 4.5 1.169 2.664 10.797 2.420641 2.420641 0.64 0.195698 0.054017 NA 0.13 NA 13.6644354 307 5 118513876 118513876 G A exonic DMXL1 NA nonsynonymous SNV DMXL1:NM_005509:exon28:c.G7072A:p.A2358T exonic ENSG00000172869 NA nonsynonymous SNV ENSG00000172869:ENST00000311085:exon28:c.G7072A:p.A2358T,ENSG00000172869:ENST00000539542:exon28:c.G7072A:p.A2358T Score=596;Name=lod=352 NA 5q23.1 NA NA NA NA rs79460759 0.03 0.03 0.02 0.0301518 0.0606 0.0109 0.0317 0.0038 0.0532 0.06 0.01 0.04 0.01 0.0496 0.061 0.63 T 0.629 P 0.109 B 0.000 D 1.000 D 1.21 L 2.95 T -0.956 T 0.003 T 0.668 1.638 11.43 5.72 2.717 5.876 19.896 1.637933 1.637933 0.52 0.060698 0.012262 NA 0.022 NA 13.6624354 307 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 308 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 308 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 309 7 100371473 100371473 C T exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA nonsynonymous SNV ENSG00000146839:ENST00000538115:exon30:c.C5764T:p.R1922C,ENSG00000146839:ENST00000542585:exon30:c.C5764T:p.R1922C,ENSG00000146839:ENST00000546213:exon30:c.C1297T:p.R433C,ENSG00000146839:ENST00000546292:exon30:c.C5764T:p.R1922C Score=259;Name=lod=15 NA 7q22.1 NA NA NA NA rs314299 NA NA NA 0.237021 0.5099 0.0327 0.2752 0.1293 0.2853 NA NA NA NA 0.5146 0.25 0.04 D 1.0 D 0.947 D 0.570 N 0.991 P 2.34 M 2.42 T 0.189 D 0.621 D 0.587 2.978 15.93 2.64 0.550 0.305 9.925 2.978348 2.978348 NA NA NA ID=COSM1446677,COSM1446675,COSM1446676;OCCURENCE=1(large_intestine) 0.312 NA 13.6421667 310 9 138516119 138516119 G A exonic GLT6D1 NA nonsynonymous SNV GLT6D1:NM_182974:exon5:c.C655T:p.P219S exonic ENSG00000204007 NA nonsynonymous SNV ENSG00000204007:ENST00000371763:exon5:c.C655T:p.P219S Score=284;Name=lod=19 NA 9q34.3 NA NA NA NA rs17040344 0.03 0.03 0.042 0.0349441 0.0656 NA 0.0389 0.0166 0.0613 0.06 NA 0.04 0.02 0.0621 0.075 0.1 T 0.997 D 0.878 P 0.010 N 0.997 N 2.395 M 4.89 T -1.040 T 0.001 T 0.065 2.031 12.75 2.6 1.072 2.316 9.395 2.030604 2.030604 0.01 0.074976 0.026042 NA 0.036 NA 13.6306574 310 11 87908502 87908502 G A exonic RAB38 NA synonymous SNV RAB38:NM_022337:exon1:c.C51T:p.D17D exonic ENSG00000123892 NA synonymous SNV ENSG00000123892:ENST00000243662:exon1:c.C51T:p.D17D Score=706;Name=lod=988 NA 11q14.2 NA Name=TAF1,Pol2-4H8,Pol2,ZNF263,PAX5-C20 Name=68 NA rs36074402 0.01 0.01 0.01 0.00579073 0.0139 NA 0.0115 0.0008 0.0061 0.02 NA 0.01 0.002 0.01 0.02 . . . . . . . . 1.000 D . . . . -0.669 T 0.183 T . 1.6 11.31 4.19 1.378 2.521 13.712 1.600127 1.600127 NA 0.013492 0.002272 NA 0.007 NA 13.6292746 310 9 18829952 18829952 A G exonic ADAMTSL1 NA nonsynonymous SNV ADAMTSL1:NM_001040272:exon23:c.A4226G:p.D1409G exonic ENSG00000178031 NA nonsynonymous SNV ENSG00000178031:ENST00000380538:exon1:c.A32G:p.D11G,ENSG00000178031:ENST00000380545:exon2:c.A329G:p.D110G,ENSG00000178031:ENST00000388710:exon2:c.A329G:p.D110G,ENSG00000178031:ENST00000542621:exon2:c.A329G:p.D110G,ENSG00000178031:ENST00000380548:exon23:c.A4226G:p.D1409G Score=557;Name=lod=245 NA 9p22.1 Score=887;Name=V$STAT5A_01 Name=p300 Name=39 NA rs41304755 0.13 0.13 0.103 0.109425 0.2465 0.0139 0.2003 0.0129 0.1329 0.25 0.01 0.2 0.01 0.2162 0.25 0.29 T 0.201 B 0.089 B 0.039 N 0.000 P 1.24 L -0.24 T -1.076 T 0.000 T 0.426 1.822 12.05 4.48 2.225 2.508 6.098 1.822179 1.822179 0.11 0.242446 0.042579 NA 0.08 NA 13.6281874 311 1 223954080 223954080 A C exonic CAPN2 NA nonsynonymous SNV CAPN2:NM_001146068:exon16:c.A1468C:p.K490Q,CAPN2:NM_001748:exon16:c.A1702C:p.K568Q exonic ENSG00000162909 NA nonsynonymous SNV ENSG00000162909:ENST00000295006:exon16:c.A1702C:p.K568Q,ENSG00000162909:ENST00000433674:exon16:c.A1468C:p.K490Q Score=439;Name=lod=81 NA 1q41 NA NA NA NA rs17599 0.21 0.21 0.196 0.207268 0.2425 0.2698 0.2493 0.0983 0.2239 0.25 0.23 0.25 0.1 0.2276 0.25 0.04 D 0.022 B 0.083 B 0.000 D 0.000 P 2.385 M 1.43 T -1.077 T 0.000 T 0.141 3.133 16.47 5.47 2.069 7.158 15.547 3.132564 3.132564 0.01 0.244651 0.125738 ID=COSM146791;OCCURENCE=1(stomach) 0.152 NA 13.6185824 311 1 86173943 86173943 C T exonic ZNHIT6 NA nonsynonymous SNV ZNHIT6:NM_001170670:exon1:c.G25A:p.G9R,ZNHIT6:NM_017953:exon1:c.G25A:p.G9R exonic ENSG00000117174 NA nonsynonymous SNV ENSG00000117174:ENST00000370574:exon1:c.G25A:p.G9R,ENSG00000117174:ENST00000431532:exon1:c.G25A:p.G9R NA NA 1p22.3 NA Name=Mxi1_(bHLH),Sin3Ak-20,Max,Pol2,KAP1,ZNF263,Pol2-4H8,Pol2(b) Name=148 NA rs17399721 0.03 0.03 0.025 0.0247604 0.0755 NA 0.0447 0.0061 0.0092 0.08 NA 0.03 0.01 0.0591 0.082 0.01 D 0.906 P 0.276 B 0.765 N 1.000 N 0.695 N 0.92 T -1.089 T 0.046 T 0.086 2.538 14.45 3.81 2.438 3.940 11.495 2.538124 2.538124 0.05 0.081744 0.017703 NA 0.007 NA 13.6169894 312 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 312 9 131019738 131019738 T C exonic GOLGA2 NA nonsynonymous SNV GOLGA2:NM_004486:exon25:c.A2704G:p.R902G exonic ENSG00000167110 NA nonsynonymous SNV ENSG00000167110:ENST00000421699:exon25:c.A2704G:p.R902G Score=333;Name=lod=30 NA 9q34.11 NA NA NA NA rs2240961 0.14 0.14 0.122 0.163738 0.0586 0.1954 0.1412 0.2368 0.1564 0.06 0.2 0.12 0.24 0.1058 0.24 0.01 D 0.983 D 0.79 P 0.000 D 0.359 P 1.7 L 1.69 T -1.076 T 0.000 T 0.068 3.572 18.2 3.62 0.647 3.762 11.425 3.571833 3.571833 0 0.056163 0.228098 NA 0.065 NA 13.6127704 312 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 313 11 5373311 5373311 T C exonic OR51B6 NA nonsynonymous SNV OR51B6:NM_001004750:exon1:c.T574C:p.F192L exonic ENSG00000176239 NA nonsynonymous SNV ENSG00000176239:ENST00000380219:exon1:c.T574C:p.F192L Score=441;Name=lod=83 NA 11p15.4 NA NA NA NA rs5006883 0.22 0.22 0.156 0.234026 0.2644 0.0863 0.2349 0.3275 0.228 0.25 0.05 0.25 0.33 0.2393 0.33 0.16 T 1.0 D 0.999 D 0.000 D 0.000 P 1.42 L 9.02 T -0.902 T 0.000 T 0.267 2.678 14.91 5.15 2.157 -1.108 5.361 2.677503 2.677503 0.19 0.224692 0.221036 NA 0.203 NA 13.6049414 313 6 166780349 166780349 G T exonic MPC1 NA unknown UNKNOWN exonic ENSG00000060762 NA nonsynonymous SNV ENSG00000060762:ENST00000341756:exon3:c.C106A:p.L36I,ENSG00000060762:ENST00000360961:exon3:c.C106A:p.L36I Score=620;Name=lod=442 NA 6q27 Score=885;Name=V$NFKB_C NA NA Score=52;Name=2136182_0_-_52 rs11557064 0.01 0.01 0.007 0.00778754 0.0179 NA 0.0245 0.0023 0.001 0.01 NA 0.03 0.002 0.0167 0.03 1 T 0.006 B 0.058 B 0.000 N 1.000 D -0.63 N -1.19 T -0.888 T 0.098 T . 1.764 11.86 5.84 2.754 8.724 17.636 1.763727 1.763727 0.7 0.029302 0.004993 NA 0.014 NA 13.6027647 313 12 133357412 133357412 T C exonic GOLGA3 NA nonsynonymous SNV GOLGA3:NM_005895:exon18:c.A3554G:p.K1185R exonic ENSG00000090615 NA nonsynonymous SNV ENSG00000090615:ENST00000450791:exon17:c.A3554G:p.K1185R,ENSG00000090615:ENST00000204726:exon18:c.A3554G:p.K1185R,ENSG00000090615:ENST00000456883:exon18:c.A3554G:p.K1185R Score=333;Name=lod=30 NA 12q24.33 NA NA NA NA rs2291260 0.27 0.27 0.264 0.306709 0.2187 0.2877 0.2493 0.3328 0.4223 0.21 0.28 0.26 0.36 0.2687 0.36 0.2 T 1.0 D 0.999 D 0.000 D 0.000 P 1.7 L 1.48 T -0.985 T 0.000 T 0.113 3.012 16.05 5.61 2.123 3.103 15.449 3.01194 3.01194 0.2 0.243605 0.329551 ID=COSM1128641;OCCURENCE=1(prostate) 0.319 NA 13.6023284 313 9 138440554 138440554 G C exonic OBP2A NA nonsynonymous SNV OBP2A:NM_014582:exon5:c.G389C:p.G130A exonic ENSG00000122136 NA nonsynonymous SNV ENSG00000122136:ENST00000342114:exon4:c.G320C:p.G107A,ENSG00000122136:ENST00000340780:exon5:c.G454C:p.V152L,ENSG00000122136:ENST00000371776:exon5:c.G389C:p.G130A,ENSG00000122136:ENST00000471886:exon5:c.G438C:p.R146S,ENSG00000122136:ENST00000539850:exon5:c.G389C:p.G130A Score=243;Name=lod=13 NA 9q34.3 NA NA NA NA rs55695858 0.19 0.19 0.17 0.173522 0.2525 0.1567 0.1369 0.1286 0.1963 0.26 0.15 0.17 0.14 0.2202 0.26 0.16 T 0.999 D 0.998 D . . 0.999 P 2.645 M 3.14 T -1.046 T 0.000 T 0.312 2.686 14.94 2.49 1.711 1.149 8.655 2.685917 2.685917 0.39 0.264535 0.150023 NA 0.174 NA 13.5960984 314 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 314 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 314 7 95034775 95034775 G C exonic PON2 NA nonsynonymous SNV PON2:NM_000305:exon9:c.C932G:p.S311C,PON2:NM_001018161:exon9:c.C896G:p.S299C exonic ENSG00000105854 NA nonsynonymous SNV ENSG00000105854:ENST00000222572:exon9:c.C932G:p.S311C,ENSG00000105854:ENST00000433091:exon9:c.C896G:p.S299C,ENSG00000105854:ENST00000536183:exon9:c.C995G:p.S332C Score=517;Name=lod=169 NA 7q21.3 NA NA NA NA rs7493 0.26 0.26 0.25 0.283347 0.2485 0.1885 0.2334 0.3321 0.3865 0.25 0.18 0.24 0.36 0.271 0.36 0.04 D 0.013 B 0.008 B 0.000 D 0.001 P . . 0.69 T -0.995 T 0.000 T 0.274 1.921 12.38 3.7 1.303 9.118 12.995 1.920948 1.920948 0.04 0.228023 0.283704 NA 0.246 CLINSIG=non-pathogenic;CLNDBN=PARAOXONASE_2_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000007500.1;CLNDSDB=.;CLNDSDBID=. 13.5858104 315 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=CTCF,p300,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 315 12 10150961 10150961 G A exonic CLEC1B NA nonsynonymous SNV CLEC1B:NM_016509:exon2:c.C83T:p.S28F exonic ENSG00000165682 NA nonsynonymous SNV ENSG00000165682:ENST00000298527:exon2:c.C83T:p.S28F NA NA 12p13.2 Score=815;Name=V$PAX2_01 NA NA NA rs2273987 0.1 0.1 0.078 0.0898562 0.0865 0.1706 0.0504 0.0522 0.089 0.08 0.2 0.04 0.05 0.0838 0.2 0.16 T 0.989 D 0.817 P 0.092 N 0.000 P 2.35 M 4.81 T -0.891 T 0.000 T 0.13 2.328 13.74 4.37 1.968 4.546 12.395 2.328352 2.328352 0.03 0.081097 0.050428 ID=COSM147432;OCCURENCE=1(stomach) 0.058 NA 13.5819364 316 5 147286054 147286054 G A exonic C5orf46 NA nonsynonymous SNV C5orf46:NM_206966:exon1:c.C11T:p.S4L exonic ENSG00000178776 NA nonsynonymous SNV ENSG00000178776:ENST00000318315:exon1:c.C11T:p.S4L,ENSG00000178776:ENST00000515291:exon1:c.C11T:p.S4L Score=355;Name=lod=37 NA 5q32 NA Name=JunD,TBP,CEBPB,GATA3_(SC-268),STAT3,c-Jun Name=78 NA rs2250145 0.51 0.51 0.482 0.48103 0.6163 0.619 0.4741 0.1846 0.6053 0.62 0.63 0.51 0.18 0.56 0.63 . . 1.0 D 0.998 D 0.001 N 0.379 P . . 0.37 T -0.835 T 0.000 T 0.371 3.259 16.93 4.88 2.721 4.186 13.750 3.259231 3.259231 0 0.584884 0.22719 NA 0.391 NA 13.5721494 316 14 31819047 31819047 C T exonic HEATR5A NA nonsynonymous SNV HEATR5A:NM_015473:exon18:c.G2656A:p.V886M exonic ENSG00000129493 NA nonsynonymous SNV ENSG00000129493:ENST00000439727:exon12:c.G1777A:p.V593M,ENSG00000129493:ENST00000389961:exon17:c.G2638A:p.V880M,ENSG00000129493:ENST00000404677:exon17:c.G2656A:p.V886M,ENSG00000129493:ENST00000439348:exon17:c.G2638A:p.V880M,ENSG00000129493:ENST00000543095:exon18:c.G2656A:p.V886M Score=613;Name=lod=412 NA 14q12 NA NA NA NA rs3736918 0.82 0.82 0.815 0.805112 0.9513 0.7897 0.7522 0.6604 0.9039 0.95 0.81 0.76 0.68 0.8821 0.95 0.02 D 1.0 D 0.999 D 0.000 D 0.000 P 2.56 M 3.21 T -1.076 T 0.000 T 0.673 4.793 27 5.48 2.587 7.384 19.359 4.793262 4.793262 0.02 0.930063 0.696381 NA 0.79 NA 13.5698704 316 11 5373562 5373562 C A exonic OR51B6 NA nonsynonymous SNV OR51B6:NM_001004750:exon1:c.C825A:p.S275R exonic ENSG00000176239 NA nonsynonymous SNV ENSG00000176239:ENST00000380219:exon1:c.C825A:p.S275R Score=346;Name=lod=34 NA 11p15.4 NA NA NA NA rs5024042 0.22 0.22 0.217 0.232428 0.2644 0.0863 0.2349 0.326 0.2219 0.25 0.05 0.25 0.32 0.2381 0.32 0.01 D 1.0 D 1.0 D 0.000 D 0.000 P 3.145 M 8.4 T -0.919 T 0.000 T 0.271 2.73 15.09 2.3 0.347 -0.398 9.058 2.730424 2.730424 0.03 0.264138 0.292367 NA 0.239 NA 13.5666954 316 1 38185723 38185723 C T exonic EPHA10 NA nonsynonymous SNV EPHA10:NM_001099439:exon14:c.G2420A:p.R807Q exonic ENSG00000183317 NA nonsynonymous SNV ENSG00000183317:ENST00000534097:exon8:c.G920A:p.R307Q,ENSG00000183317:ENST00000330210:exon10:c.G905A:p.R302Q,ENSG00000183317:ENST00000373048:exon14:c.G2420A:p.R807Q,ENSG00000183317:ENST00000427468:exon14:c.G2420A:p.R807Q Score=472;Name=lod=111 NA 1p34.3 NA NA NA NA rs6670599 0.06 0.06 0.05 0.0447284 0.1083 0.0278 0.0447 0.0174 0.0337 0.1 0.02 0.05 0.03 0.066 0.1 0 D 0.985 D 0.566 P 0.004 N 0.000 P 0.54 N 0.02 T -0.958 T 0.006 T 0.242 4.28 22.4 4.66 2.312 4.890 7.130 4.280186 4.280186 0 0.092588 0.031264 NA 0.109 NA 13.5664454 316 11 5373006 5373006 T C exonic OR51B6 NA nonsynonymous SNV OR51B6:NM_001004750:exon1:c.T269C:p.I90T exonic ENSG00000176239 NA nonsynonymous SNV ENSG00000176239:ENST00000380219:exon1:c.T269C:p.I90T Score=265;Name=lod=16 NA 11p15.4 NA NA NA NA rs7483122 0.22 0.22 0.208 0.234026 0.2644 0.0863 0.2349 0.3275 0.228 0.25 0.05 0.25 0.33 0.2396 0.33 0.02 D 0.447 B 0.178 B 0.000 D 0.000 P 3.9 H 6.27 T -1.046 T 0.000 T 0.433 2.192 13.29 5.01 2.103 4.774 13.684 2.191954 2.191954 0.01 0.263905 0.294866 NA 0.239 NA 13.5654284 317 10 102295836 102295836 C G exonic HIF1AN NA nonsynonymous SNV HIF1AN:NM_017902:exon1:c.C121G:p.P41A exonic ENSG00000166135 NA nonsynonymous SNV ENSG00000166135:ENST00000299163:exon1:c.C121G:p.P41A Score=522;Name=lod=176 NA 10q24.31 NA Name=TAF1,NFKB,Pol2-4H8,HEY1,GATA-1,Pol2,Pol2(phosphoS2),ELK4,YY1,YY1_(C-20),Sin3Ak-20 Name=6 NA rs2295778 0.2 0.2 0.161 0.180711 0.2694 0.253 0.2147 0.0182 0.2106 0.27 0.24 0.23 0.02 0.2539 0.27 0.15 T 0.002 B 0.0 B 0.000 D 0.003 P 1.04 L -0.48 T -1.102 T 0.000 T 0.145 1.497 10.95 4.13 2.646 2.861 15.762 1.496867 1.496867 0.41 0.256311 0.049749 ID=COSM426936;OCCURENCE=1(breast) 0.152 NA 13.5537224 317 16 48265777 48265777 C T exonic ABCC11 NA nonsynonymous SNV ABCC11:NM_033151:exon1:c.G56A:p.R19H,ABCC11:NM_032583:exon2:c.G56A:p.R19H,ABCC11:NM_145186:exon2:c.G56A:p.R19H exonic ENSG00000121270 NA nonsynonymous SNV ENSG00000121270:ENST00000394747:exon1:c.G56A:p.R19H,ENSG00000121270:ENST00000353782:exon2:c.G56A:p.R19H,ENSG00000121270:ENST00000356608:exon2:c.G56A:p.R19H,ENSG00000121270:ENST00000394748:exon2:c.G56A:p.R19H,ENSG00000121270:ENST00000537808:exon2:c.G56A:p.R19H,ENSG00000121270:ENST00000569991:exon2:c.G56A:p.R19H Score=265;Name=lod=16 NA 16q12.1 NA Name=STAT1,CTCF Name=107 NA rs16945988 0.11 0.11 0.112 0.110024 0.1014 0.0188 0.0893 0.2458 0.044 0.1 0.01 0.1 0.23 0.0934 0.23 0.13 T 0.825 P 0.121 B 0.002 N 1.000 P 0 N -2.8 D -1.031 T 0.000 T 0.183 1.4 10.62 4.11 0.827 2.218 9.210 1.400285 1.400285 0 0.086279 0.209318 NA 0.152 NA 13.5522544 317 1 232568041 232568041 G A exonic SIPA1L2 NA nonsynonymous SNV SIPA1L2:NM_020808:exon14:c.C4208T:p.S1403L exonic ENSG00000116991 NA nonsynonymous SNV ENSG00000116991:ENST00000308942:exon8:c.C1430T:p.S477L,ENSG00000116991:ENST00000262861:exon14:c.C4208T:p.S1403L,ENSG00000116991:ENST00000366630:exon15:c.C4208T:p.S1403L Score=460;Name=lod=99 NA 1q42.2 NA NA NA NA rs1547742 0.07 0.07 0.053 0.0621006 0.0994 0.0397 0.1311 0.0129 0.0644 0.1 0.04 0.13 0.02 0.0895 0.13 0.01 D 0.991 D 0.452 P 0.171 N 0.071 P 1.61 L 2.66 T -0.860 T 0.007 T 0.38 3.207 16.74 5.01 1.515 4.530 14.954 3.206872 3.206872 0.01 0.097148 0.030507 ID=COSM1340113;OCCURENCE=1(large_intestine) 0.065 NA 13.5472854 318 19 49869051 49869051 T G exonic DKKL1 NA nonsynonymous SNV DKKL1:NM_001197302:exon4:c.T101G:p.M34R,DKKL1:NM_014419:exon4:c.T326G:p.M109R exonic ENSG00000104901 NA nonsynonymous SNV ENSG00000104901:ENST00000221498:exon4:c.T326G:p.M109R,ENSG00000104901:ENST00000596402:exon4:c.T101G:p.M34R,ENSG00000104901:ENST00000597873:exon4:c.T101G:p.M34R Score=321;Name=lod=27 Name=Multiple sclerosis 19q13.33 Score=786;Name=V$MYOGNF1_01 NA NA NA rs2303759 0.27 0.27 0.277 0.318291 0.2396 0.3373 0.2464 0.292 0.4663 0.24 0.33 0.25 0.27 0.2947 0.37 0.01 D 0.378 B 0.101 B 0.195 N 0.000 P 0 N 2.73 T -0.940 T 0.000 T 0.187 1.504 10.98 4.35 1.980 3.671 10.128 1.504113 1.504113 0 0.264884 0.287335 NA 0.341 NA 13.5341494 318 9 107267304 107267304 C T exonic OR13F1 NA nonsynonymous SNV OR13F1:NM_001004485:exon1:c.C761T:p.T254M exonic ENSG00000186881 NA nonsynonymous SNV ENSG00000186881:ENST00000334726:exon1:c.C761T:p.T254M Score=346;Name=lod=34 NA 9q31.1 NA NA NA NA rs7030820 0.54 0.54 0.52 0.530351 0.6173 0.4296 0.5821 0.5424 0.4918 0.62 0.42 0.56 0.53 0.5771 0.62 0.02 D 0.999 D 0.947 D 0.003 N 0.991 P 2.995 M 8.27 T -1.171 T 0.000 T 0.147 2.957 15.86 3.41 1.415 1.929 10.596 2.956984 2.956984 0.01 0.604884 0.523377 NA 0.551 NA 13.5340494 318 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$AP1FJ_Q2 Name=c-Myc,ERalpha_a,AP-2gamma Name=14 NA rs2295795 0.24 0.24 0.217 0.201478 0.2704 0.3383 0.268 0.0197 0.1881 0.26 0.37 0.28 0.02 0.2498 0.37 0.25 T 0.002 B 0.001 B 0.010 N 0.000 P 1.7 L 2.71 T -0.915 T 0.000 T 0.356 2.999 16 4.92 1.466 7.695 16.389 2.999336 2.999336 0.2 0.28 0.06355 NA 0.188 NA 13.5331334 319 5 134364518 134364518 C G exonic PITX1 NA nonsynonymous SNV PITX1:NM_002653:exon3:c.G896C:p.G299A exonic ENSG00000069011 NA nonsynonymous SNV ENSG00000069011:ENST00000265340:exon3:c.G896C:p.G299A,ENSG00000069011:ENST00000506438:exon4:c.G896C:p.G299A Score=765;Name=lod=1710 NA 5q31.1 NA Name=USF-1,Max,SUZ12 Name=21 NA rs479632 0.32 0.32 0.324 0.319888 0.2704 0.4762 0.3271 0.1339 0.456 0.28 0.49 0.3 0.18 0.3001 0.49 0.69 T 0.147 B 0.06 B 0.001 N 0.000 P -0.405 N -2.45 D -1.046 T 0.000 T 0.089 1.483 10.9 4.32 1.954 7.423 15.794 1.482622 1.482622 1 0.247907 0.15547 NA 0.116 NA 13.5149264 319 5 72419267 72419267 T C exonic TMEM171 NA nonsynonymous SNV TMEM171:NM_001161342:exon2:c.T67C:p.F23L,TMEM171:NM_173490:exon2:c.T67C:p.F23L exonic ENSG00000157111 NA nonsynonymous SNV ENSG00000157111:ENST00000287773:exon2:c.T67C:p.F23L,ENSG00000157111:ENST00000454765:exon2:c.T67C:p.F23L Score=412;Name=lod=63 NA 5q13.2 NA NA Name=4 NA rs638333 0.21 0.21 0.175 0.16893 0.2883 0.0962 0.3458 0.0855 0.1084 0.29 0.12 0.34 0.1 0.2496 0.34 0.02 D 0.087 B 0.027 B 0.000 N 0.004 P 2.32 M 1.38 T -1.029 T 0.000 T 0.171 4.257 22.2 5.09 1.922 5.398 14.870 4.257271 4.257271 0 0.283372 0.116205 NA 0.123 NA 13.5120614 319 10 95441272 95441272 G A exonic FRA10AC1 NA nonsynonymous SNV FRA10AC1:NM_145246:exon11:c.C752T:p.S251F exonic ENSG00000148690 NA nonsynonymous SNV ENSG00000148690:ENST00000359204:exon11:c.C752T:p.S251F,ENSG00000148690:ENST00000371430:exon11:c.C752T:p.S251F,ENSG00000148690:ENST00000394100:exon11:c.C752T:p.S251F,ENSG00000148690:ENST00000536233:exon11:c.C752T:p.S251F Score=403;Name=lod=58 NA 10q23.33 Score=851;Name=V$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 319 2 179558366 179558366 T C exonic TTN NA nonsynonymous SNV TTN:NM_133378:exon116:c.A27832G:p.I9278V,TTN:NM_001256850:exon117:c.A30613G:p.I10205V,TTN:NM_001267550:exon119:c.A31564G:p.I10522V exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000414766:exon13:c.A1198G:p.I400V,ENSG00000155657:ENST00000342992:exon116:c.A27832G:p.I9278V,ENSG00000155657:ENST00000591111:exon117:c.A30613G:p.I10205V,ENSG00000155657:ENST00000589042:exon119:c.A31564G:p.I10522V Score=482;Name=lod=121 NA 2q31.2 Score=762;Name=V$HTF_01 NA NA NA rs2042995 0.42 0.42 0.414 0.477835 0.2455 0.5685 0.4193 0.5877 0.5164 0.24 0.53 0.37 0.58 0.3536 0.58 0 D . . . . . . 0.000 P -1.095 N 0.18 T -1.002 T 0.000 T 0.149 -0.73 0.877 5.85 1.498 1.140 9.311 -0.730053 NA 1 0.228593 0.558873 NA 0.428 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040122.2|RCV000125754.1;CLNDSDB=.|.;CLNDSDBID=.|. 13.5056404 320 11 62951221 62951221 C G exonic SLC22A25 NA nonsynonymous SNV SLC22A25:NM_199352:exon5:c.G899C:p.R300T exonic ENSG00000196600 NA stoploss ENSG00000196600:ENST00000525295:exon2:c.G471C:p.X157Y Score=251;Name=lod=14 NA 11q12.3 NA NA NA NA rs11231397 0.4 0.4 0.395 0.420327 0.3946 0.5317 0.4438 0.2617 0.5297 0.38 0.58 0.37 0.24 0.4066 0.58 0.03 D 0.996 D 0.944 D 0.060 N 0.007 P 2.955 M 0.27 T -0.931 T 0.000 T 0.396 -0.531 1.583 -3.87 -1.156 -0.657 3.297 -0.531111 NA 0.03 0.376891 0.296683 NA 0.399 NA 13.4885757 320 2 63176139 63176139 A C exonic EHBP1 NA nonsynonymous SNV EHBP1:NM_001142614:exon12:c.A2158C:p.K720Q,EHBP1:NM_001142615:exon13:c.A2158C:p.K720Q,EHBP1:NM_001142616:exon13:c.A2158C:p.K720Q,EHBP1:NM_015252:exon14:c.A2263C:p.K755Q exonic ENSG00000115504 NA nonsynonymous SNV ENSG00000115504:ENST00000405289:exon12:c.A2158C:p.K720Q,ENSG00000115504:ENST00000354487:exon13:c.A2158C:p.K720Q,ENSG00000115504:ENST00000405015:exon13:c.A2158C:p.K720Q,ENSG00000115504:ENST00000431489:exon13:c.A2158C:p.K720Q,ENSG00000115504:ENST00000263991:exon14:c.A2263C:p.K755Q Score=265;Name=lod=16 NA 2p15 NA NA NA NA rs17432615 0.07 0.07 0.062 0.0613019 0.1083 0.0347 0.0764 0.0219 0.0828 0.12 0.03 0.07 0.02 0.106 0.13 0.39 T 0.977 D 0.854 P 0.000 D 0.315 P 1.845 L -0.88 T -0.987 T 0.010 T 0.138 3.478 17.8 6.03 2.308 6.179 16.558 3.478474 3.478474 0.02 0.133171 0.03951 NA 0.152 NA 13.4858624 321 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 321 2 173339808 173339808 G A exonic ITGA6 NA nonsynonymous SNV ITGA6:NM_000210:exon7:c.G1138A:p.A380T,ITGA6:NM_001079818:exon7:c.G1138A:p.A380T exonic ENSG00000091409 NA nonsynonymous SNV ENSG00000091409:ENST00000264107:exon7:c.G1138A:p.A380T,ENSG00000091409:ENST00000343713:exon7:c.G1123A:p.A375T,ENSG00000091409:ENST00000409080:exon7:c.G1138A:p.A380T,ENSG00000091409:ENST00000409532:exon7:c.G781A:p.A261T,ENSG00000091409:ENST00000458358:exon7:c.G1123A:p.A375T,ENSG00000091409:ENST00000264106:exon8:c.G1255A:p.A419T,ENSG00000091409:ENST00000375221:exon8:c.G1255A:p.A419T,ENSG00000091409:ENST00000442250:exon8:c.G1255A:p.A419T Score=655;Name=lod=615 NA 2q31.1 Score=731;Name=V$MEF2_04 NA NA NA rs11895564 0.24 0.24 0.246 0.251597 0.2793 0.0933 0.2248 0.3253 0.3057 0.28 0.09 0.27 0.33 0.281 0.34 . . 0.858 P 0.834 P 0.000 D 0.000 P 1.775 L -0.7 T -1.136 T 0.000 T 0.357 4.069 20.9 4.46 1.225 3.120 13.351 4.068903 4.068903 0.11 0.297674 0.34158 NA 0.355 NA 13.4753594 322 6 34831856 34831856 T C exonic UHRF1BP1 NA nonsynonymous SNV UHRF1BP1:NM_017754:exon15:c.T3293C:p.M1098T exonic ENSG00000065060 NA nonsynonymous SNV ENSG00000065060:ENST00000192788:exon15:c.T3293C:p.M1098T,ENSG00000065060:ENST00000452449:exon15:c.T3293C:p.M1098T Score=481;Name=lod=120 NA 6p21.31 NA NA NA NA rs13205210 0.14 0.14 0.143 0.14377 0.1352 0.1339 0.1081 0.2133 0.0941 0.12 0.13 0.12 0.21 0.1138 0.22 0 D 0.835 P 0.42 B 0.000 D 0.000 P 0.55 N 2.24 T -1.091 T 0.021 T 0.652 4.166 21.5 6.04 2.317 6.833 15.147 4.165605 4.165605 0 0.111191 0.193244 NA 0.174 NA 13.4731424 322 9 6328947 6328947 T C exonic TPD52L3 NA nonsynonymous SNV TPD52L3:NM_001001874:exon1:c.T352C:p.F118L,TPD52L3:NM_001001875:exon1:c.T352C:p.F118L,TPD52L3:NM_033516:exon1:c.T352C:p.F118L exonic ENSG00000170777 NA nonsynonymous SNV ENSG00000170777:ENST00000314556:exon1:c.T352C:p.F118L,ENSG00000170777:ENST00000344545:exon1:c.T352C:p.F118L,ENSG00000170777:ENST00000381428:exon1:c.T352C:p.F118L Score=391;Name=lod=52 NA 9p24.1 NA NA NA NA rs3847262 0.94 0.94 0.935 0.922524 0.9662 0.999 0.9395 0.7821 0.9765 0.97 1 0.95 0.8 0.9499 1 0.05 D 0.999 D 0.991 D 0.000 D 0.000 P 2.67 M 1.11 T -1.088 T 0.000 T 0.621 4.316 22.6 4.41 2.006 3.691 10.222 4.316141 4.316141 0.05 0.946744 0.824557 NA 0.804 NA 13.4704894 323 12 52788928 52788928 G A exonic KRT82 NA nonsynonymous SNV KRT82:NM_033033:exon9:c.C1373T:p.T458M exonic ENSG00000161850 NA nonsynonymous SNV ENSG00000161850:ENST00000257974:exon9:c.C1373T:p.T458M NA NA 12q13.13 Score=840;Name=V$AHRARNT_01 NA NA NA rs2658658 0.32 0.32 0.322 0.338658 0.4702 0.0645 0.3746 0.3374 0.4622 0.47 0.06 0.39 0.35 0.4221 0.48 0.01 D 0.999 D 0.854 P 0.022 N 1.000 P 0 N -1.64 D -0.973 T 0.000 T 0.113 1.345 10.42 3.84 1.137 2.017 7.932 1.344757 1.344757 0.03 0.477326 0.364049 NA 0.391 NA 13.4637074 323 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 323 12 80765800 80765800 A G exonic OTOGL NA nonsynonymous SNV OTOGL:NM_173591:exon56:c.A6710G:p.N2237S exonic ENSG00000165899 NA nonsynonymous SNV ENSG00000165899:ENST00000546620:exon10:c.A767G:p.N256S,ENSG00000165899:ENST00000458043:exon56:c.A6710G:p.N2237S,ENSG00000165899:ENST00000547103:exon56:c.A6674G:p.N2225S Score=445;Name=lod=86 NA 12q21.31 NA NA NA NA rs1551122 0.51 0.51 0.491 0.484026 0.6461 0.7024 0.4798 0.1051 0.6074 0.64 0.68 0.49 0.14 0.5893 0.68 0.34 T 0.995 D 0.91 D 0.000 D 0.000 P 2.14 M 2.38 T -0.987 T 0.000 T 0.074 3.789 19.24 5.98 2.289 5.331 16.143 3.789085 3.789085 0.12 0.64073 0.215161 NA 0.522 NA 13.4572034 323 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 324 19 8168545 8168545 C T exonic FBN3 NA nonsynonymous SNV FBN3:NM_032447:exon38:c.G4840A:p.G1614S exonic ENSG00000142449 NA nonsynonymous SNV ENSG00000142449:ENST00000270509:exon38:c.G4840A:p.G1614S,ENSG00000142449:ENST00000600128:exon39:c.G4840A:p.G1614S,ENSG00000142449:ENST00000601739:exon39:c.G4840A:p.G1614S Score=648;Name=lod=576 NA 19p13.2 NA NA NA NA rs33967815 0.16 0.16 0.163 0.13778 0.2952 0.0476 0.1888 0.0507 0.1503 0.29 0.05 0.22 0.06 0.2471 0.34 0.36 T 1.0 D 0.999 D 0.000 U 0.000 P 0.955 L -2.88 D -1.232 T 0.000 T 0.147 3.611 18.38 3.61 1.724 5.475 15.606 3.610916 3.610916 0.02 0.337209 0.085565 NA 0.174 NA 13.4538244 324 8 72977703 72977703 C T exonic TRPA1 NA nonsynonymous SNV TRPA1:NM_007332:exon4:c.G535A:p.E179K exonic ENSG00000104321 NA nonsynonymous SNV ENSG00000104321:ENST00000523582:exon1:c.G91A:p.E31K,ENSG00000104321:ENST00000262209:exon4:c.G535A:p.E179K Score=410;Name=lod=62 NA 8q13.3 NA NA NA NA rs920829 0.21 0.21 0.22 0.19988 0.1272 0.2847 0.0793 0.295 0.1442 0.13 0.29 0.1 0.32 0.1443 0.32 0.27 T 0.994 D 0.739 P 0.000 D 0.000 P 1.64 L -0.33 T -1.158 T 0.000 T 0.8 4.869 27.9 5.39 2.689 6.718 19.524 4.869104 4.869104 0.07 0.109004 0.277702 NA 0.181 NA 13.4528294 324 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 324 1 46195375 46195375 T C exonic IPP NA nonsynonymous SNV IPP:NM_001145349:exon4:c.A791G:p.K264R,IPP:NM_005897:exon4:c.A791G:p.K264R exonic ENSG00000197429 NA nonsynonymous SNV ENSG00000197429:ENST00000359942:exon4:c.A791G:p.K264R,ENSG00000197429:ENST00000396478:exon4:c.A791G:p.K264R Score=669;Name=lod=695 NA 1p34.1 Score=837;Name=V$OCT1_01 NA NA NA rs28375469 0.3 0.3 0.298 0.314896 0.2833 0.3135 0.3473 0.2504 0.4131 0.29 0.32 0.31 0.26 0.304 0.36 0.04 D 0.006 B 0.005 B 0.000 D 0.000 P 0 N -0.63 T -1.089 T 0.000 T 0.205 3.122 16.43 5.81 2.226 7.623 16.167 3.121918 3.121918 0.19 0.296047 0.246936 ID=COSM146501;OCCURENCE=1(stomach) 0.399 NA 13.4499864 324 3 69230061 69230061 G A exonic FRMD4B NA nonsynonymous SNV FRMD4B:NM_015123:exon21:c.C2840T:p.S947L exonic ENSG00000114541 NA nonsynonymous SNV ENSG00000114541:ENST00000478263:exon11:c.C1796T:p.S599L,ENSG00000114541:ENST00000398540:exon21:c.C2840T:p.S947L,ENSG00000114541:ENST00000542259:exon22:c.C2678T:p.S893L Score=462;Name=lod=101 NA 3p14.1 NA NA NA NA rs9831516 0.8 0.8 0.799 0.770367 0.9901 0.6419 0.8847 0.6082 0.8149 0.99 0.65 0.9 0.63 0.9032 0.99 0.28 T 1.0 D 0.994 D 0.000 D 0.000 P 2.135 M -2.17 D -0.908 T 0.000 T 0.613 3.177 16.63 5.83 2.757 9.476 20.114 3.176909 3.176909 0.57 0.99278 0.651515 NA 0.833 NA 13.4472534 325 19 8486884 8486884 G A exonic MARCH2 NA nonsynonymous SNV MARCH2:NM_001005415:exon2:c.G160A:p.A54T,MARCH2:NM_001005416:exon2:c.G160A:p.A54T,MARCH2:NM_016496:exon3:c.G160A:p.A54T exonic ENSG00000099785 NA nonsynonymous SNV ENSG00000099785:ENST00000215555:exon2:c.G160A:p.A54T,ENSG00000099785:ENST00000381035:exon2:c.G160A:p.A54T,ENSG00000099785:ENST00000602117:exon2:c.G160A:p.A54T,ENSG00000099785:ENST00000393944:exon3:c.G160A:p.A54T,ENSG00000099785:ENST00000595142:exon3:c.G160A:p.A54T,ENSG00000099785:ENST00000595213:exon3:c.G160A:p.A54T,ENSG00000099785:ENST00000601724:exon3:c.G160A:p.A54T Score=445;Name=lod=86 NA 19p13.2 NA Name=Pol2 Name=4 NA rs1133893 0.22 0.22 0.192 0.198882 0.2922 0.2381 0.2723 0.0348 0.2321 0.29 0.22 0.3 0.04 0.2743 0.33 0.58 T 0.297 B 0.172 B 0.000 D 0.000 P 1.645 L 2.46 T -0.921 T 0.000 T 0.188 2.697 14.98 4.6 1.362 4.156 14.724 2.696507 2.696507 0.52 0.333953 0.095325 ID=COSM440684;OCCURENCE=1(breast) 0.319 NA 13.4328804 325 22 45728370 45728370 G A exonic FAM118A NA nonsynonymous SNV FAM118A:NM_017911:exon6:c.G716A:p.R239H,FAM118A:NM_001104595:exon7:c.G716A:p.R239H exonic ENSG00000100376 NA nonsynonymous SNV ENSG00000100376:ENST00000405548:exon3:c.G170A:p.R57H,ENSG00000100376:ENST00000441876:exon6:c.G716A:p.R239H,ENSG00000100376:ENST00000216214:exon7:c.G716A:p.R239H Score=265;Name=lod=16 NA 22q13.31 NA NA NA NA rs6007594 0.48 0.48 0.504 0.525559 0.2724 0.5218 0.3905 0.8411 0.4591 0.26 0.52 0.41 0.83 0.3602 0.83 0.11 T 0.999 D 0.934 D 0.000 D 0.000 P 0.755 N 1.58 T -1.110 T 0.000 T 0.345 3.981 20.4 5.8 2.743 5.769 12.948 3.981425 3.981425 0.2 0.271047 0.743078 ID=COSM149314;OCCURENCE=1(stomach) 0.5 NA 13.4296864 325 7 25194753 25194753 C T exonic C7orf31 NA nonsynonymous SNV C7orf31:NM_138811:exon6:c.G472A:p.A158T exonic ENSG00000153790 NA nonsynonymous SNV ENSG00000153790:ENST00000283905:exon6:c.G472A:p.A158T,ENSG00000153790:ENST00000409280:exon6:c.G472A:p.A158T Score=346;Name=lod=34 NA 7p15.3 NA NA NA NA rs12535348 0.28 0.28 0.271 0.28135 0.4891 0.1567 0.3919 0.0484 0.4325 0.47 0.14 0.41 0.05 0.416 0.5 0.08 T 0.992 D 0.752 P 0.001 D 0.343 P 2.095 M 2.98 T -0.897 T 0.000 T 0.325 2.851 15.5 4.58 1.293 1.734 11.843 2.850917 2.850917 0.12 0.499186 0.11507 ID=COSM150253;OCCURENCE=1(stomach),1(large_intestine) 0.355 NA 13.4290474 325 11 122646967 122646967 G A exonic UBASH3B NA nonsynonymous SNV UBASH3B:NM_032873:exon2:c.G202A:p.A68T exonic ENSG00000154127 NA nonsynonymous SNV ENSG00000154127:ENST00000284273:exon2:c.G202A:p.A68T Score=613;Name=lod=415 NA 11q24.1 Score=788;Name=V$ARNT_02 NA NA NA rs12790613 0.21 0.21 0.181 0.195687 0.3111 0.1726 0.3069 0.0325 0.2423 0.29 0.19 0.31 0.04 0.2727 0.32 0.44 T 0.875 P 0.665 P 0.000 D 0.000 P 1.855 L 1.94 T -0.929 T 0.000 T 0.209 3.48 17.81 4.23 1.176 6.092 13.640 3.480055 3.480055 0.09 0.32054 0.085377 ID=COSM147340;OCCURENCE=1(stomach) 0.232 NA 13.4289934 326 3 130284284 130284284 G A exonic COL6A6 NA nonsynonymous SNV COL6A6:NM_001102608:exon3:c.G1108A:p.A370T exonic ENSG00000206384 NA nonsynonymous SNV ENSG00000206384:ENST00000358511:exon3:c.G1108A:p.A370T,ENSG00000206384:ENST00000453409:exon3:c.G1108A:p.A370T Score=289;Name=lod=20 NA 3q22.1 NA Name=CTCF NA NA rs9830253 0.58 0.58 0.541 0.51897 0.8221 0.4435 0.7522 0.1354 0.638 0.84 0.46 0.77 0.18 0.7424 0.84 0.26 T 0.998 D 0.886 P 0.001 D 0.026 P 2.575 M -1.36 T -0.903 T 0.000 T 0.2 2.846 15.48 4.08 2.492 3.264 8.037 2.845762 2.845762 0.1 0.844471 0.292195 NA 0.536 NA 13.4243624 326 12 53165940 53165940 C T exonic KRT76 NA nonsynonymous SNV KRT76:NM_015848:exon5:c.G1075A:p.A359T exonic ENSG00000185069 NA nonsynonymous SNV ENSG00000185069:ENST00000332411:exon5:c.G1075A:p.A359T Score=475;Name=lod=114 NA 12q13.13 NA NA NA NA rs6580904 0.65 0.65 0.649 0.600839 0.8499 0.5516 0.6801 0.4576 0.5327 0.86 0.55 0.68 0.43 0.7306 0.86 0.03 D 0.986 D 0.771 P 0.000 D 0.012 P 2.05 M -2.25 D -0.925 T 0.000 T 0.193 2.371 13.89 4.42 2.398 0.647 14.703 2.370905 2.370905 0.11 0.82907 0.468679 ID=COSM1179681;OCCURENCE=1(liver),1(prostate) 0.739 NA 13.4237634 326 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 327 6 117086378 117086378 C A exonic FAM162B NA nonsynonymous SNV FAM162B:NM_001085480:exon2:c.G213T:p.Q71H exonic ENSG00000183807 NA nonsynonymous SNV ENSG00000183807:ENST00000368557:exon2:c.G213T:p.Q71H NA Name=Telomere length 6q22.1 NA NA Name=32 NA rs654128 0.1 0.1 0.096 0.0856629 0.1491 0.0655 0.1182 0.0787 0.0276 0.14 0.05 0.13 0.08 0.1176 0.16 0.11 T 0.971 D 0.75 P 0.025 N 1.000 P 1.265 L 1.48 T -1.046 T 0.038 T 0.109 1.506 10.99 -7.29 -1.544 -2.282 11.314 1.505972 1.505972 0.07 0.158252 0.093909 NA 0.116 NA 13.4083814 328 19 15198631 15198631 A C exonic OR1I1 NA nonsynonymous SNV OR1I1:NM_001004713:exon1:c.A755C:p.Y252S exonic ENSG00000094661 NA nonsynonymous SNV ENSG00000094661:ENST00000209540:exon1:c.A755C:p.Y252S Score=374;Name=lod=44 NA 19p13.12 Score=830;Name=V$GR_Q6 NA NA NA rs8105737 0.5 0.5 0.5 0.490815 0.659 0.3849 0.5533 0.354 0.5675 0.65 0.4 0.57 0.35 0.6064 0.67 0.02 D 0.999 D 0.979 D 0.012 U 0.630 P 3.785 H 1.02 T -0.911 T 0.000 T 0.176 1.319 10.32 3.59 0.809 1.274 8.490 1.318584 1.318584 0 0.674302 0.391966 NA 0.5 NA 13.3936314 328 19 19017862 19017862 G A exonic COPE NA nonsynonymous SNV COPE:NM_007263:exon4:c.C350T:p.T117I,COPE:NM_199444:exon4:c.C350T:p.T117I exonic ENSG00000105669 NA nonsynonymous SNV ENSG00000105669:ENST00000262812:exon4:c.C350T:p.T117I,ENSG00000105669:ENST00000349893:exon4:c.C350T:p.T117I,ENSG00000105669:ENST00000600932:exon4:c.C350T:p.T117I Score=573;Name=lod=285 NA 19p13.11 Score=838;Name=V$MRF2_01 NA NA NA rs10330 0.18 0.18 0.184 0.207867 0.1332 0.0754 0.1239 0.413 0.2035 0.13 0.1 0.14 0.39 0.1906 0.39 0.27 T 0.564 P 0.14 B 0.000 D 0.000 P 1.79 L 2.33 T -0.928 T 0.000 T 0.267 2.455 14.17 4.76 2.190 5.207 16.346 2.455055 2.455055 0.21 0.116771 0.357629 NA 0.246 NA 13.3927624 328 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 329 4 187630590 187630590 G A exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon2:c.C392T:p.A131V exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon2:c.C392T:p.A131V,ENSG00000083857:ENST00000509647:exon2:c.C392T:p.A131V Score=376;Name=lod=45 NA 4q35.2 NA NA NA NA rs3733415 0.22 0.22 0.232 0.261382 0.1302 0.2768 0.1239 0.3994 0.2914 0.12 0.28 0.15 0.37 0.1798 0.37 0.01 D 0.904 P 0.273 B 0.001 N 0.003 P 2.425 M 0.21 T -1.016 T 0.000 T 0.326 2.563 14.53 5.2 2.704 6.182 18.505 2.563244 2.563244 0.01 0.138843 0.338811 NA 0.333 NA 13.3844904 329 12 14587301 14587301 A G exonic ATF7IP NA nonsynonymous SNV ATF7IP:NM_018179:exon3:c.A1589G:p.K530R exonic ENSG00000171681 NA nonsynonymous SNV ENSG00000171681:ENST00000540793:exon2:c.A1589G:p.K530R,ENSG00000171681:ENST00000261168:exon3:c.A1589G:p.K530R,ENSG00000171681:ENST00000536444:exon3:c.A1586G:p.K529R,ENSG00000171681:ENST00000543189:exon3:c.A1586G:p.K529R,ENSG00000171681:ENST00000544627:exon3:c.A1613G:p.K538R Score=428;Name=lod=73 Name=Prostate-specific antigen levels 12p13.1 NA NA NA NA rs3213764 0.47 0.47 0.453 0.439497 0.496 0.6181 0.3674 0.2852 0.4571 0.5 0.62 0.41 0.31 0.4714 0.62 0.05 D 0.988 D 0.831 P 0.044 N 0.027 P 1.7 L 2.03 T -0.964 T 0.000 T 0.174 3.832 19.46 4.43 1.935 2.126 10.634 3.832458 3.832458 0 0.486512 0.297322 ID=COSM1128636;OCCURENCE=1(prostate) 0.457 NA 13.3794214 330 3 57303684 57303684 A G exonic APPL1 NA nonsynonymous SNV APPL1:NM_012096:exon22:c.A2099G:p.E700G exonic ENSG00000157500 NA nonsynonymous SNV ENSG00000157500:ENST00000288266:exon22:c.A2099G:p.E700G Score=689;Name=lod=844 NA 3p14.3 Score=990;Name=V$LYF1_01 NA NA NA rs11544593 0.09 0.09 0.062 0.0726837 0.159 0.004 0.1282 0.0068 0.1043 0.17 0.0035 0.15 0.02 0.1298 0.17 0.09 T 0.455 P 0.111 B 0.000 D 0.000 P 0.895 L 2.69 T -0.973 T 0.000 T 0.174 1.671 11.55 5.65 2.272 8.689 16.161 1.671067 1.671067 0 0.17093 0.04335 NA 0.08 NA 13.3736034 330 12 3782647 3782647 A T exonic EFCAB4B NA nonsynonymous SNV EFCAB4B:NM_001144958:exon7:c.T636A:p.H212Q,EFCAB4B:NM_032680:exon7:c.T636A:p.H212Q exonic ENSG00000130038 NA nonsynonymous SNV ENSG00000130038:ENST00000252322:exon7:c.T636A:p.H212Q,ENSG00000130038:ENST00000440314:exon7:c.T636A:p.H212Q,ENSG00000130038:ENST00000444507:exon7:c.T636A:p.H212Q Score=529;Name=lod=188 NA 12p13.32 NA NA NA NA rs36030417 0.15 0.15 0.131 0.170727 0.1471 0.127 0.2363 0.115 0.2689 0.14 0.15 0.24 0.11 0.1719 0.24 0.59 T 0.974 D 0.601 P 0.001 D 0.995 P 1.895 L 2.7 T -1.097 T 0.000 T 0.153 1.512 11.01 -8.51 -2.641 -3.808 9.652 1.511825 1.511825 0.4 0.142674 0.12483 NA 0.181 NA 13.3716594 331 1 236700857 236700857 C T exonic LGALS8 NA nonsynonymous SNV LGALS8:NM_201544:exon3:c.C106T:p.R36C,LGALS8:NM_006499:exon4:c.C106T:p.R36C,LGALS8:NM_201543:exon4:c.C106T:p.R36C,LGALS8:NM_201545:exon4:c.C106T:p.R36C exonic ENSG00000116977 NA nonsynonymous SNV ENSG00000116977:ENST00000525042:exon2:c.C106T:p.R36C,ENSG00000116977:ENST00000238181:exon3:c.C106T:p.R36C,ENSG00000116977:ENST00000323938:exon3:c.C106T:p.R36C,ENSG00000116977:ENST00000366584:exon3:c.C106T:p.R36C,ENSG00000116977:ENST00000416919:exon3:c.C106T:p.R36C,ENSG00000116977:ENST00000442397:exon3:c.C106T:p.R36C,ENSG00000116977:ENST00000526634:exon3:c.C106T:p.R36C,ENSG00000116977:ENST00000527974:exon3:c.C106T:p.R36C,ENSG00000116977:ENST00000341872:exon4:c.C106T:p.R36C,ENSG00000116977:ENST00000352231:exon4:c.C106T:p.R36C,ENSG00000116977:ENST00000430527:exon4:c.C106T:p.R36C,ENSG00000116977:ENST00000450372:exon4:c.C106T:p.R36C,ENSG00000116977:ENST00000481485:exon4:c.C106T:p.R36C,ENSG00000116977:ENST00000529489:exon4:c.C106T:p.R36C,ENSG00000116977:ENST00000454943:exon5:c.C106T:p.R36C,ENSG00000116977:ENST00000406509:exon6:c.C106T:p.R36C,ENSG00000116977:ENST00000526589:exon6:c.C106T:p.R36C Score=346;Name=lod=34 NA 1q43 Score=694;Name=V$P53_01 Name=MafK_(ab50322) NA NA rs1041935 0.56 0.56 0.53 0.5 0.6759 0.4762 0.5072 0.4455 0.4121 0.68 0.49 0.54 0.47 0.6105 0.68 0.08 T 0.42 B 0.065 B 0.000 D 0.000 P 2.415 M 3.36 T -1.013 T 0.000 T 0.359 3.163 16.58 5.45 2.837 7.146 19.471 3.163472 3.163472 0.09 0.682326 0.493418 ID=COSM146351;OCCURENCE=1(stomach) 0.522 NA 13.3646074 332 17 7490810 7490810 G A exonic MPDU1 NA nonsynonymous SNV MPDU1:NM_004870:exon7:c.G685A:p.A229T exonic ENSG00000129255 NA nonsynonymous SNV ENSG00000129255:ENST00000250124:exon7:c.G685A:p.A229T Score=571;Name=lod=278 NA 17p13.1 NA Name=CTCF Name=93 NA rs10852891 0.16 0.16 0.154 0.15615 0.159 0.1567 0.121 0.1611 0.1708 0.16 0.18 0.12 0.17 0.154 0.2 0.2 T 0.602 P 0.043 B . . 0.000 P 1.975 M -0.91 T -1.090 T 0.000 T 0.067 2.885 15.61 2.12 0.827 0.870 5.550 2.885117 2.885117 0.09 0.167326 0.176577 NA 0.138 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081188.1;CLNDSDB=.;CLNDSDBID=. 13.3530074 332 5 150946773 150946773 G A exonic FAT2 NA nonsynonymous SNV FAT2:NM_001447:exon1:c.C1720T:p.R574C exonic ENSG00000086570 NA nonsynonymous SNV ENSG00000086570:ENST00000261800:exon1:c.C1720T:p.R574C Score=265;Name=lod=16 NA 5q33.1 NA NA NA NA rs1432862 0.44 0.44 0.422 0.417931 0.4901 0.3562 0.4524 0.4365 0.3579 0.49 0.35 0.45 0.48 0.4673 0.52 0.02 D 0.99 D 0.659 P 0.551 N 0.008 P 1.935 M 0.72 T -0.915 T 0.000 T 0.126 2.023 12.72 4.33 1.148 6.638 15.660 2.022637 2.022637 0.02 0.523372 0.439401 NA 0.428 NA 13.3525614 332 12 53442956 53442956 G C exonic TENC1 NA nonsynonymous SNV TENC1:NM_015319:exon1:c.G29C:p.R10T exonic ENSG00000111077 NA nonsynonymous SNV ENSG00000111077:ENST00000314276:exon1:c.G29C:p.R10T Score=295;Name=lod=21 NA 12q13.13 Score=964;Name=V$LYF1_01 Name=Pol2,p300,CtBP2,GR Name=94 NA rs12369033 0.41 0.41 0.387 0.373403 0.7237 0.1329 0.4452 0.1868 0.4622 0.71 0.14 0.49 0.21 0.5647 0.71 0.1 T 0.13 B 0.052 B 0.472 N 0.000 P . . -3.4 D -0.941 T 0.000 T 0.045 1.138 9.637 2.75 1.118 1.397 6.914 1.137981 NA 0 0.699651 0.254199 NA 0.522 NA 13.3452824 333 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 333 1 64643277 64643277 C T exonic ROR1 NA nonsynonymous SNV ROR1:NM_005012:exon9:c.C1553T:p.T518M exonic ENSG00000185483 NA nonsynonymous SNV ENSG00000185483:ENST00000371079:exon9:c.C1553T:p.T518M Score=524;Name=lod=180 NA 1p31.3 Score=840;Name=V$AP4_01 NA NA NA rs7527017 0.28 0.28 0.274 0.243211 0.3549 0.3115 0.2968 0.0416 0.2924 0.38 0.34 0.34 0.04 0.3043 0.38 0.07 T 0.788 P 0.532 P 0.019 N 0.000 P 0.485 N -1.68 D -0.285 T 0.323 T 0.134 2.411 14.02 5.04 1.475 1.785 17.008 2.410795 2.410795 0.07 0.332209 0.078529 NA 0.319 NA 13.3419244 333 8 65493429 65493429 T G exonic BHLHE22 NA nonsynonymous SNV BHLHE22:NM_152414:exon1:c.T82G:p.S28A exonic ENSG00000180828 NA nonsynonymous SNV ENSG00000180828:ENST00000321870:exon1:c.T82G:p.S28A Score=750;Name=lod=1487 NA 8q12.3 Score=772;Name=V$PAX5_01 Name=TBP,Pol2 Name=16 NA rs7016250 0.5 0.5 0.455 0.528754 0.326 0.5546 0.4452 0.77 0.4438 0.32 0.59 0.42 0.75 0.4174 0.75 1 T 0.0 B 0.0 B 0.003 N 1.000 P -0.145 N -3.45 D -0.944 T 0.000 T 0.022 -1.437 0.02 2.5 0.272 3.146 7.316 -1.436684 NA 1 0.253332 0.647783 NA NA NA 13.3366014 334 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 334 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 334 17 21318698 21318698 C T exonic KCNJ12,KCNJ18 NA nonsynonymous SNV KCNJ18:NM_001194958:exon3:c.C44T:p.S15L,KCNJ12:NM_021012:exon3:c.C44T:p.S15L exonic ENSG00000184185 NA nonsynonymous SNV ENSG00000184185:ENST00000331718:exon3:c.C44T:p.S15L,ENSG00000184185:ENST00000583088:exon3:c.C44T:p.S15L Score=514;Name=lod=164 NA 17p11.2 NA NA NA NA rs1657738 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4992 0.5 0.12 T 0.88 P 0.179 B 0.000 D 1.000 D 1.735 L 1.3 T -0.798 T 0.000 T 0.334 3.254 16.91 4.37 1.257 5.954 13.641 3.253602 3.253602 0.06 NA NA ID=COSM436188;OCCURENCE=1(breast) 0.145 NA 13.3341334 334 7 23775477 23775477 G T exonic STK31 NA nonsynonymous SNV STK31:NM_001260504:exon7:c.G735T:p.K245N,STK31:NM_001260505:exon7:c.G804T:p.K268N,STK31:NM_031414:exon7:c.G804T:p.K268N,STK31:NM_032944:exon7:c.G735T:p.K245N exonic ENSG00000196335 NA nonsynonymous SNV ENSG00000196335:ENST00000354639:exon7:c.G735T:p.K245N,ENSG00000196335:ENST00000355870:exon7:c.G804T:p.K268N,ENSG00000196335:ENST00000428484:exon7:c.G735T:p.K245N,ENSG00000196335:ENST00000433467:exon7:c.G804T:p.K268N NA NA 7p15.3 NA NA NA NA rs10264967 0.11 0.11 0.104 0.0896565 0.173 0.0308 0.1196 0.0772 0.0603 0.17 0.03 0.15 0.09 0.1382 0.19 0.06 T 0.988 D 0.737 P 0.000 D 0.797 P 1.935 M 2.06 T -1.092 T 0.000 T 0.224 2.071 12.88 4.71 2.332 3.548 11.185 2.070656 2.070656 0.06 0.188605 0.091693 NA 0.072 NA 13.3335284 334 1 65099841 65099841 A G exonic CACHD1 NA nonsynonymous SNV CACHD1:NM_020925:exon7:c.A751G:p.S251G exonic ENSG00000158966 NA nonsynonymous SNV ENSG00000158966:ENST00000290039:exon7:c.A751G:p.S251G,ENSG00000158966:ENST00000371073:exon7:c.A904G:p.S302G Score=376;Name=lod=45 NA 1p31.3 Score=888;Name=V$GATA1_05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14 T 0.0 B 0.0 B 0.000 N 1.000 D 0.55 N 1.94 T -1.030 T 0.012 T 0.203 0.935 8.811 3.58 0.487 3.090 5.642 0.935157 NA 0.35 NA NA NA NA NA 13.3333334 334 1 144922583 144922583 G A exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002811:exon3:c.C1313T:p.S438L,PDE4DIP:NM_001002812:exon7:c.C824T:p.S275L,PDE4DIP:NM_001198834:exon7:c.C824T:p.S275L,PDE4DIP:NM_014644:exon7:c.C824T:p.S275L,PDE4DIP:NM_001198832:exon10:c.C1022T:p.S341L exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000313431:exon3:c.C1313T:p.S438L,ENSG00000178104:ENST00000479408:exon3:c.C185T:p.S62L,ENSG00000178104:ENST00000529945:exon3:c.C1313T:p.S438L,ENSG00000178104:ENST00000369349:exon7:c.C824T:p.S275L,ENSG00000178104:ENST00000369351:exon7:c.C824T:p.S275L,ENSG00000178104:ENST00000369354:exon7:c.C824T:p.S275L,ENSG00000178104:ENST00000369356:exon7:c.C824T:p.S275L,ENSG00000178104:ENST00000313382:exon10:c.C1022T:p.S341L,ENSG00000178104:ENST00000369359:exon10:c.C1235T:p.S412L,ENSG00000178104:ENST00000530740:exon10:c.C1235T:p.S412L Score=471;Name=lod=109 NA 1q21.1 Score=874;Name=V$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 334 17 61417560 61417560 G T exonic TANC2 NA nonsynonymous SNV TANC2:NM_025185:exon10:c.G1452T:p.Q484H exonic ENSG00000170921 NA nonsynonymous SNV ENSG00000170921:ENST00000389520:exon10:c.G1452T:p.Q484H,ENSG00000170921:ENST00000424789:exon10:c.G1452T:p.Q484H Score=371;Name=lod=43 NA 17q23.3 Score=917;Name=V$TGIF_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008282 NA 0.05 D 0.074 B 0.085 B 0.000 D 0.985 D 1.04 L -0.39 T -0.900 T 0.171 T 0.192 2.024 12.72 1.65 0.587 0.703 6.912 2.023554 2.023554 0.01 NA NA NA NA NA 13.3333251 334 14 78399644 78399644 C A exonic ADCK1 NA nonsynonymous SNV ADCK1:NM_001142545:exon10:c.C1278A:p.N426K,ADCK1:NM_020421:exon11:c.C1482A:p.N494K exonic ENSG00000063761 NA nonsynonymous SNV ENSG00000063761:ENST00000341211:exon10:c.C1278A:p.N426K,ENSG00000063761:ENST00000238561:exon11:c.C1482A:p.N494K Score=387;Name=lod=50 NA 14q24.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002471 NA 0.9 T 0.019 B 0.037 B 0.247 N 1.000 D 1.845 L 1.25 T -0.909 T 0.191 T 0.285 0.501 6.719 4.7 1.376 1.669 12.743 0.501376 NA 0.07 NA NA NA NA NA 13.3333087 334 8 8235578 8235578 C T exonic SGK223 NA nonsynonymous SNV SGK223:NM_001080826:exon2:c.G341A:p.R114K exonic ENSG00000182319 NA nonsynonymous SNV ENSG00000182319:ENST00000330777:exon2:c.G341A:p.R114K,ENSG00000182319:ENST00000520004:exon3:c.G341A:p.R114K Score=385;Name=lod=49 NA 8p23.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 NA 0.76 T 0.026 B 0.006 B 0.000 D 0.961 N 1.155 L 0.48 T -1.054 T 0.103 T 0.241 1.937 12.43 4.22 2.786 2.182 12.678 1.936636 1.936636 0.62 NA NA NA NA NA 13.3332334 334 4 8583046 8583046 C T exonic GPR78 NA nonsynonymous SNV GPR78:NM_080819:exon1:c.C337T:p.R113C exonic ENSG00000155269 NA nonsynonymous SNV ENSG00000155269:ENST00000382487:exon1:c.C337T:p.R113C,ENSG00000155269:ENST00000514302:exon2:c.C337T:p.R113C Score=591;Name=lod=337 NA 4p16.1 NA NA NA NA rs376622641 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003094 0.0001 0.01 D 0.999 D 0.953 D 0.000 U 0.923 D 1.15 L 0.95 T -0.932 T 0.125 T 0.216 2.05 12.81 -0.758 -0.513 2.767 4.464 2.050454 2.050454 0.02 0.000118 0 NA NA NA 13.3331845 334 3 127337927 127337927 A G exonic MCM2 NA nonsynonymous SNV MCM2:NM_004526:exon13:c.A2071G:p.K691E exonic ENSG00000073111 NA nonsynonymous SNV ENSG00000073111:ENST00000265056:exon13:c.A2071G:p.K691E Score=548;Name=lod=224 NA 3q21.3 NA NA NA NA rs150514271 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0002 0.89 T 0.355 B 0.115 B 0.000 D 1.000 D -0.455 N 3.39 T -0.922 T 0.009 T 0.25 1.342 10.41 5.46 2.072 8.622 15.515 1.341691 1.341691 0.68 0.000233 0 NA NA NA 13.3330004 334 5 70307189 70307189 G A exonic NAIP NA nonsynonymous SNV NAIP:NM_004536:exon5:c.C581T:p.T194M exonic ENSG00000249437 NA nonsynonymous SNV ENSG00000249437:ENST00000194097:exon3:c.C581T:p.T194M,ENSG00000249437:ENST00000508426:exon3:c.C581T:p.T194M,ENSG00000249437:ENST00000517649:exon5:c.C581T:p.T194M Score=569;Name=lod=273 NA 5q13.2 Score=681;Name=V$PPARG_02 Name=FOXA2_(SC-6554),FOXA1_(C-20),FOXA1_(SC-101058) Name=3 NA rs201023314 0.0005 0.0005 NA 0.000399361 NA NA 0.0029 NA NA NA NA 0.0028 NA 0.0002 0.0028 0.09 T 1.0 D 1.0 D . . 0.999 N 1.31 L -0.68 T -0.610 T 0.398 T 0.248 2.052 12.82 1.09 0.274 -0.092 10.447 2.052315 2.052315 0.01 0.000233 0 NA NA NA 13.3329004 334 19 44739712 44739712 G C exonic ZNF227 NA nonsynonymous SNV ZNF227:NM_182490:exon6:c.G1129C:p.E377Q exonic ENSG00000131115 NA nonsynonymous SNV ENSG00000131115:ENST00000391961:exon4:c.G976C:p.E326Q,ENSG00000131115:ENST00000589005:exon5:c.G976C:p.E326Q,ENSG00000131115:ENST00000313040:exon6:c.G1129C:p.E377Q Score=387;Name=lod=50 NA 19q13.31 NA NA NA NA rs149831526 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0003 0 D 0.996 D 0.934 D . . 1.000 D 1.48 L 1.77 T -1.055 T 0.092 T 0.12 3.709 18.84 1.28 0.480 3.066 6.077 3.709054 3.709054 0 0.000349 0 NA NA NA 13.3328844 334 1 32207720 32207720 G A exonic BAI2 NA nonsynonymous SNV BAI2:NM_001703:exon8:c.C1351T:p.P451S exonic ENSG00000121753 NA nonsynonymous SNV ENSG00000121753:ENST00000440175:exon3:c.C277T:p.P93S,ENSG00000121753:ENST00000420125:exon4:c.C1165T:p.P389S,ENSG00000121753:ENST00000398538:exon5:c.C1315T:p.P439S,ENSG00000121753:ENST00000398542:exon5:c.C1150T:p.P384S,ENSG00000121753:ENST00000398547:exon5:c.C1150T:p.P384S,ENSG00000121753:ENST00000398556:exon5:c.C1195T:p.P399S,ENSG00000121753:ENST00000533175:exon5:c.C1288T:p.P430S,ENSG00000121753:ENST00000527361:exon6:c.C1351T:p.P451S,ENSG00000121753:ENST00000257070:exon8:c.C1351T:p.P451S,ENSG00000121753:ENST00000373655:exon8:c.C1351T:p.P451S,ENSG00000121753:ENST00000373658:exon8:c.C1351T:p.P451S Score=477;Name=lod=116 NA 1p35.2 Score=787;Name=V$PAX5_01 NA NA NA rs139751061 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0005 0.34 T 0.356 B 0.247 B 0.002 N 0.980 D 1.815 L 0.77 T -0.901 T 0.146 T 0.344 2.35 13.82 4.1 2.283 3.791 15.639 2.349901 2.349901 0.09 0.000465 0.000454 NA NA NA 13.3326684 334 11 76954833 76954833 G A exonic GDPD4 NA nonsynonymous SNV GDPD4:NM_182833:exon12:c.C1147T:p.H383Y exonic ENSG00000178795 NA nonsynonymous SNV ENSG00000178795:ENST00000315938:exon12:c.C1147T:p.H383Y,ENSG00000178795:ENST00000376217:exon12:c.C1147T:p.H383Y Score=366;Name=lod=41 NA 11q13.5 Score=943;Name=V$USF_C NA NA NA rs11237146 0.22 0.22 0.2 0.242212 0.3608 0.256 0.1873 0.0257 0.4376 0.34 0.23 0.2 0.03 0.2981 0.34 0.2 T 0.952 P 0.536 P 0.019 N 0.867 P 1.935 M 2.82 T -0.874 T 0.000 T 0.083 2.582 14.59 3.34 1.112 3.107 10.971 2.581875 2.581875 0.07 0.342148 0.082045 NA 0.13 NA 13.3322854 334 12 116457069 116457069 C T exonic MED13L NA nonsynonymous SNV MED13L:NM_015335:exon7:c.G969A:p.M323I exonic ENSG00000123066 NA nonsynonymous SNV ENSG00000123066:ENST00000281928:exon7:c.G969A:p.M323I Score=547;Name=lod=222 NA 12q24.21 NA NA NA NA rs141207031 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.00007434 0.0005 0.19 T 0.004 B 0.008 B 0.000 D 0.999 D 1.04 L -0.97 T -0.732 T 0.258 T 0.335 3.055 16.2 4.28 1.417 3.256 13.663 3.054593 3.054593 0.14 0 0.000454 NA NA NA 13.3322591 334 20 36842049 36842049 G A exonic KIAA1755 NA nonsynonymous SNV KIAA1755:NM_001029864:exon14:c.C2998T:p.R1000C exonic ENSG00000149633 NA nonsynonymous SNV ENSG00000149633:ENST00000279024:exon14:c.C2998T:p.R1000C Score=433;Name=lod=77 NA 20q11.23 NA Name=ERalpha_a NA NA rs199872523 0.0005 0.0005 NA 0.00139776 0.001 NA NA NA 0.0061 0.0013 NA NA NA 0.0006 0.0013 0.1 T 0.163 B 0.021 B 0.021 N 0.608 D 1.4 L 3.37 T -1.062 T 0.014 T 0.658 2.131 13.08 3.04 1.380 1.369 4.942 2.131238 2.131238 0.12 NA NA NA NA NA 13.3317334 334 16 31391381 31391381 G A exonic ITGAX NA nonsynonymous SNV ITGAX:NM_000887:exon26:c.G3055A:p.V1019M exonic ENSG00000140678 NA nonsynonymous SNV ENSG00000140678:ENST00000268296:exon26:c.G3055A:p.V1019M,ENSG00000140678:ENST00000562522:exon26:c.G3055A:p.V1019M Score=346;Name=lod=34 NA 16p11.2 Score=845;Name=V$AHRARNT_01 NA NA NA rs142434946 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0004 0.0015 0.11 T 0.885 P 0.508 P . . 0.918 N 1.81 L 0.91 T -0.987 T 0.128 T 0.46 1.655 11.49 3.32 1.105 1.434 10.143 1.655413 1.655413 0.11 0.001512 0 NA NA NA 13.3314214 334 2 227915832 227915832 G A exonic COL4A4 NA nonsynonymous SNV COL4A4:NM_000092:exon33:c.C3011T:p.P1004L exonic ENSG00000081052 NA nonsynonymous SNV ENSG00000081052:ENST00000329662:exon33:c.C3011T:p.P1004L,ENSG00000081052:ENST00000396625:exon33:c.C3011T:p.P1004L Score=352;Name=lod=36 NA 2q36.3 NA NA NA NA rs1800517 0.51 0.51 0.51 0.547324 0.494 0.4821 0.5173 0.587 0.637 0.5 0.48 0.51 0.56 0.5205 0.58 0.05 D 0.634 P 0.2 B . . 0.000 P 2.53 M -4.09 D -1.162 T 0.000 T 0.275 1.845 12.13 4.64 1.336 4.358 12.480 1.84521 1.84521 0 0.489294 0.582406 NA 0.529 NA 13.3295394 334 16 28550174 28550174 C T exonic NUPR1 NA nonsynonymous SNV NUPR1:NM_001042483:exon1:c.G55A:p.D19N,NUPR1:NM_012385:exon1:c.G55A:p.D19N exonic ENSG00000176046 NA nonsynonymous SNV ENSG00000176046:ENST00000324873:exon1:c.G55A:p.D19N,ENSG00000176046:ENST00000395641:exon1:c.G55A:p.D19N,ENSG00000176046:ENST00000567646:exon1:c.G55A:p.D19N Score=289;Name=lod=20 NA 16p11.2 NA Name=Pol2 NA NA rs144175749 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0009 0.0034 0.41 T 0.013 B 0.021 B 0.170 N 0.855 D . . . . -0.937 T 0.124 T 0.08 3.932 20.1 4.49 1.434 1.928 10.267 3.932193 3.932193 0 0.003372 0.000228 NA NA NA 13.3290614 334 15 43712823 43712823 C T exonic TP53BP1 NA nonsynonymous SNV TP53BP1:NM_001141979:exon21:c.G4361A:p.R1454Q,TP53BP1:NM_001141980:exon21:c.G4361A:p.R1454Q,TP53BP1:NM_005657:exon21:c.G4346A:p.R1449Q exonic ENSG00000067369 NA nonsynonymous SNV ENSG00000067369:ENST00000382039:exon20:c.G4211A:p.R1404Q,ENSG00000067369:ENST00000263801:exon21:c.G4346A:p.R1449Q,ENSG00000067369:ENST00000382044:exon21:c.G4361A:p.R1454Q,ENSG00000067369:ENST00000450115:exon21:c.G4361A:p.R1454Q NA NA 15q15.3 NA NA Name=5 NA rs28903077 0.0009 0.0009 0.001 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0009 0.0026 0.42 T 0.999 D 0.978 D 0.018 N 1.000 N 0.895 L 3.73 T -0.986 T 0.027 T 0.333 3.667 18.64 5.45 2.717 4.145 14.178 3.666759 3.666759 0.02 0.001978 0 NA NA NA 13.3284554 335 14 64687258 64687258 A T exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_182910:exon4:c.A488T:p.Q163L,SYNE2:NM_182913:exon6:c.A866T:p.Q289L,SYNE2:NM_015180:exon110:c.A19895T:p.Q6632L,SYNE2:NM_182914:exon111:c.A19964T:p.Q6655L exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000441438:exon4:c.A488T:p.Q163L,ENSG00000054654:ENST00000458046:exon6:c.A866T:p.Q289L,ENSG00000054654:ENST00000554805:exon9:c.A1244T:p.Q415L,ENSG00000054654:ENST00000555022:exon11:c.A1529T:p.Q510L,ENSG00000054654:ENST00000394768:exon58:c.A9050T:p.Q3017L,ENSG00000054654:ENST00000555002:exon62:c.A9866T:p.Q3289L,ENSG00000054654:ENST00000344113:exon110:c.A19895T:p.Q6632L,ENSG00000054654:ENST00000554584:exon110:c.A19643T:p.Q6548L,ENSG00000054654:ENST00000357395:exon111:c.A9050T:p.Q3017L,ENSG00000054654:ENST00000358025:exon111:c.A19964T:p.Q6655L NA NA 14q23.2 NA Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194) Name=21 NA rs149978500 0.0014 0.0014 0.001 0.00139776 0.004 NA 0.0029 NA 0.001 0.0026 NA 0.0028 NA 0.0022 0.011 0 D 0.313 B 0.292 B 0.819 N 1.000 D 1.95 M 0.55 T -0.893 T 0.176 T 0.29 0.461 6.504 2.37 0.147 0.924 4.714 0.461194 NA 0 0.002674 0.000681 NA 0.007 NA 13.3244594 335 1 22160001 22160001 C T exonic HSPG2 NA nonsynonymous SNV HSPG2:NM_005529:exon79:c.G10937A:p.R3646H exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000374695:exon79:c.G10937A:p.R3646H Score=487;Name=lod=127 NA 1p36.12 Score=851;Name=V$CMYB_01 NA NA NA rs112062179 NA NA NA 0.000599042 0.002 NA NA NA 0.001 NA NA NA NA 0.0035 0.0049 0.12 T 1.0 D 0.999 D 0.034 N 0.757 D 1.28 L -1.25 T -0.101 T 0.460 T 0.106 3.163 16.58 2.11 0.457 0.849 8.825 3.163064 3.163064 0.17 0.004884 0.000454 NA NA NA 13.3229494 335 1 203152801 203152801 T C exonic CHI3L1 NA nonsynonymous SNV CHI3L1:NM_001276:exon5:c.A433G:p.R145G exonic ENSG00000133048 NA nonsynonymous SNV ENSG00000133048:ENST00000255409:exon5:c.A433G:p.R145G Score=383;Name=lod=48 NA 1q32.1 NA NA NA NA rs880633 0.37 0.37 0.331 0.373003 0.5417 0.3839 0.3343 0.1747 0.4836 0.53 0.36 0.36 0.17 0.4553 0.53 0 D 0.849 P 0.219 B 0.000 D 0.173 P 2.235 M 3.44 T -0.958 T 0.000 T 0.186 1.907 12.34 5.69 2.153 1.716 13.900 1.907189 1.907189 0 0.514186 0.2197 NA 0.399 NA 13.3221474 335 6 29408600 29408600 G T exonic OR10C1 NA nonsynonymous SNV OR10C1:NM_013941:exon1:c.G808T:p.D270Y exonic ENSG00000206474 NA nonsynonymous SNV ENSG00000206474:ENST00000444197:exon1:c.G808T:p.D270Y NA NA 6p22.1 NA NA NA NA rs72482089 0.0032 0.0032 0 0.00279553 0.005 NA 0.013 NA NA 0.01 NA 0.01 NA 0.0037 0.01 0.01 D 1.0 D 1.0 D 0.001 N 0.797 N 3.27 M 8.42 T -1.020 T 0.001 T 0.672 2.716 15.04 3.54 1.812 0.248 8.931 2.715895 2.715895 0 0.002584 0.000993 NA NA NA 13.3220494 335 15 34649336 34649336 G A exonic NUTM1 NA nonsynonymous SNV NUTM1:NM_175741:exon7:c.G3043A:p.E1015K exonic ENSG00000184507 NA nonsynonymous SNV ENSG00000184507:ENST00000333756:exon7:c.G3043A:p.E1015K,ENSG00000184507:ENST00000438749:exon7:c.G3097A:p.E1033K,ENSG00000184507:ENST00000537011:exon8:c.G3127A:p.E1043K Score=444;Name=lod=85 NA 15q14 NA NA NA NA rs149177074 0.0023 0.0023 0.003 0.00159744 0.006 NA 0.0029 NA NA 0.004 NA 0.01 NA 0.0023 0.01 0.02 D 0.232 B 0.076 B 0.209 N 0.587 D 1.9 L 2.62 T -1.064 T 0.028 T 0.304 2.923 15.74 4.28 1.422 1.928 9.617 2.923315 2.923315 0.14 0.003606 0.000909 ID=COSM1235970;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 13.3214274 335 18 21057228 21057228 C T exonic RIOK3 NA nonsynonymous SNV RIOK3:NM_003831:exon11:c.C1340T:p.S447L exonic ENSG00000101782 NA nonsynonymous SNV ENSG00000101782:ENST00000577250:exon1:c.C77T:p.S26L,ENSG00000101782:ENST00000339486:exon11:c.C1340T:p.S447L,ENSG00000101782:ENST00000577501:exon11:c.C1340T:p.S447L,ENSG00000101782:ENST00000581585:exon11:c.C1292T:p.S431L Score=594;Name=lod=345 NA 18q11.2 NA NA NA NA rs56282762 0.0023 0.0023 0.003 0.00119808 0.005 NA 0.0014 NA NA 0.01 NA 0.0028 NA 0.0037 0.01 0.32 T 0.92 P 0.557 P 0.001 N 1.000 D 1.255 L 3.29 T -1.075 T 0.020 T 0.69 4.061 20.9 5.96 2.843 7.222 20.477 4.060653 4.060653 0.01 0.006279 0.001135 ID=COSM1388009;OCCURENCE=1(kidney),1(large_intestine) NA NA 13.3183544 335 20 62328267 62328267 C T exonic TNFRSF6B NA synonymous SNV TNFRSF6B:NM_003823:exon1:c.C147T:p.C49C exonic ENSG00000026036,ENSG00000243509,ENSG00000258366 NA nonsynonymous SNV ENSG00000026036:ENST00000482936:exon35:c.C4054T:p.R1352C,ENSG00000258366:ENST00000318100:exon36:c.C4054T:p.R1352C NA NA 20q13.33 NA Name=Pol2 Name=86 NA rs2257440 0.29 0.29 0.221 0.263778 0.2038 0.6478 0.2637 0.0242 0.2536 0.22 0.65 0.2 0.03 0.2564 0.65 0.01 D . . . . 0.003 N 0.605 P . . -1.71 D -0.898 T 0.000 T . 1.092 9.458 -8.12 -1.993 -1.308 18.880 1.092457 NA 0.14 0.222677 0.068664 NA 0.13 NA 13.317123 335 13 46543092 46543092 C T exonic ZC3H13 NA nonsynonymous SNV ZC3H13:NM_015070:exon14:c.G3587A:p.R1196Q exonic ENSG00000123200 NA nonsynonymous SNV ENSG00000123200:ENST00000378921:exon1:c.G455A:p.R152Q,ENSG00000123200:ENST00000242848:exon14:c.G3587A:p.R1196Q,ENSG00000123200:ENST00000282007:exon14:c.G3587A:p.R1196Q Score=451;Name=lod=91 NA 13q14.13 NA NA NA NA rs143879310 0.0027 0.0027 0.002 0.00219649 0.005 NA 0.0014 NA 0.0051 0.01 NA 0.0028 NA 0.0048 0.022 0.24 T 0.226 B 0.053 B 0.000 D 1.000 D 0.255 N 2.56 T -1.079 T 0.030 T 0.2 3.658 18.6 5.49 2.739 5.060 13.015 3.65812 3.65812 0.04 0.00686 0.001135 NA 0.014 NA 13.3166734 336 1 46032307 46032307 G A exonic AKR1A1 NA nonsynonymous SNV AKR1A1:NM_153326:exon3:c.G151A:p.G51S,AKR1A1:NM_001202413:exon4:c.G151A:p.G51S,AKR1A1:NM_006066:exon4:c.G151A:p.G51S,AKR1A1:NM_001202414:exon5:c.G151A:p.G51S exonic ENSG00000117448 NA nonsynonymous SNV ENSG00000117448:ENST00000351829:exon3:c.G151A:p.G51S,ENSG00000117448:ENST00000372070:exon4:c.G151A:p.G51S,ENSG00000117448:ENST00000434299:exon5:c.G151A:p.G51S Score=556;Name=lod=243 NA 1p34.1 NA NA NA NA rs61751012 0.0046 0.0046 0.001 0.00399361 0.0109 NA 0.0043 NA 0.0061 0.01 NA 0.0028 NA 0.0071 0.01 0.19 T 0.075 B 0.097 B 0.000 N 1.000 D 2.5 M 0.81 T -0.914 T 0.118 T 0.34 2.723 15.07 5.21 1.607 5.401 8.333 2.723262 2.723262 0.21 0.009884 0.000681 NA NA NA 13.3054494 337 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 337 12 49430947 49430947 T C exonic MLL2 NA nonsynonymous SNV MLL2:NM_003482:exon34:c.A10192G:p.M3398V exonic ENSG00000167548 NA nonsynonymous SNV ENSG00000167548:ENST00000301067:exon34:c.A10192G:p.M3398V Score=462;Name=lod=101 NA 12q13.12 NA NA NA NA rs75937132 0.01 0.01 0.004 0.00379393 0.0139 NA 0.0043 0.0015 NA 0.01 NA 0.01 0.002 0.01 0.012 0 D 0.0 B 0.0 B 0.011 N 0.954 N 1.585 L -1.37 T -0.593 T 0.294 T 0.167 0.826 8.33 4.32 1.024 2.253 9.556 0.826276 NA NA 0.011939 0.001197 NA NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080098.2;CLNDSDB=.;CLNDSDBID=. 13.2974944 338 2 85554080 85554080 G A exonic TGOLN2 NA nonsynonymous SNV TGOLN2:NM_001206841:exon2:c.C775T:p.R259W,TGOLN2:NM_006464:exon2:c.C775T:p.R259W exonic ENSG00000152291 NA nonsynonymous SNV ENSG00000152291:ENST00000377386:exon2:c.C775T:p.R259W,ENSG00000152291:ENST00000409015:exon2:c.C775T:p.R259W,ENSG00000152291:ENST00000409232:exon2:c.C775T:p.R259W,ENSG00000152291:ENST00000444342:exon2:c.C775T:p.R259W NA NA 2p11.2 NA Name=TAF1 Name=78 NA rs4247303 0.57 0.57 0.539 0.579673 0.4881 0.8671 0.6787 0.3419 0.6288 0.49 0.85 0.63 0.35 0.5586 0.85 0.01 D 0.999 D 0.844 P . . 1.000 P 1.245 L 2.84 T -0.807 T 0.000 T 0.085 1.236 10.02 -3.74 -3.248 -2.303 0.942 1.236273 1.236273 0.03 0.493718 0.357143 ID=COSM1409767;OCCURENCE=1(large_intestine) 0.471 NA 13.2929154 338 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 338 11 1262189 1262189 C T exonic MUC5B NA nonsynonymous SNV MUC5B:NM_002458:exon31:c.C4079T:p.T1360M exonic ENSG00000117983 NA nonsynonymous SNV ENSG00000117983:ENST00000447027:exon31:c.C4088T:p.T1363M,ENSG00000117983:ENST00000529681:exon31:c.C4079T:p.T1360M Score=300;Name=lod=22 NA 11p15.5 NA NA NA NA rs12363494 0.01 0.01 0.01 0.00599042 0.0179 NA 0.013 0.0015 0.001 0.02 NA 0.02 0.002 0.0112 0.02 0 D 1.0 D 0.993 D . . 0.588 N 2.96 M 2.02 T -0.708 T 0.090 T 0.204 1.072 9.375 2.87 0.790 0.836 12.674 1.07159 NA NA 0.014797 0.001705 NA NA NA 13.2894364 338 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 338 20 41420095 41420095 T C exonic PTPRT NA nonsynonymous SNV PTPRT:NM_007050:exon3:c.A226G:p.M76V,PTPRT:NM_133170:exon3:c.A226G:p.M76V exonic ENSG00000196090 NA nonsynonymous SNV ENSG00000196090:ENST00000356100:exon3:c.A226G:p.M76V,ENSG00000196090:ENST00000373184:exon3:c.A226G:p.M76V,ENSG00000196090:ENST00000373187:exon3:c.A226G:p.M76V,ENSG00000196090:ENST00000373190:exon3:c.A226G:p.M76V,ENSG00000196090:ENST00000373193:exon3:c.A226G:p.M76V,ENSG00000196090:ENST00000373198:exon3:c.A226G:p.M76V,ENSG00000196090:ENST00000373201:exon3:c.A226G:p.M76V Score=551;Name=lod=232 NA 20q12 NA NA NA NA rs17811401 0.01 0.01 0.006 0.0107827 0.0169 NA 0.0043 0.0015 0.0327 0.01 NA 0.01 0.002 0.0169 0.012 0.16 T 0.0 B 0.006 B 0.000 D 0.976 D 1.295 L 4.57 T -0.869 T 0.006 T 0.163 1.192 9.847 5.54 2.107 2.111 10.088 1.192493 NA 0.21 0.012009 0.002111 NA 0.007 NA 13.2875244 338 5 5303424 5303424 G A exonic ADAMTS16 NA nonsynonymous SNV ADAMTS16:NM_139056:exon19:c.G2833A:p.G945R exonic ENSG00000145536 NA nonsynonymous SNV ENSG00000145536:ENST00000274181:exon19:c.G2833A:p.G945R NA NA 5p15.32 Score=779;Name=V$PAX5_02 NA NA NA rs34586473 0.01 0.01 0.003 0.00439297 0.0129 NA 0.0043 0.0008 0.0051 0.01 NA NA 0.0041 0.0152 0.019 0.36 T 0.997 D 0.958 D 0.030 N 1.000 N 2.03 M 0.63 T -0.997 T 0.105 T 0.121 1.954 12.49 2.27 1.110 0.736 3.131 1.954061 1.954061 0 0.018793 0.004181 NA NA NA 13.2864404 338 5 71756896 71756896 T C exonic ZNF366 NA nonsynonymous SNV ZNF366:NM_152625:exon2:c.A428G:p.E143G exonic ENSG00000178175 NA nonsynonymous SNV ENSG00000178175:ENST00000318442:exon2:c.A428G:p.E143G Score=528;Name=lod=186 NA 5q13.2 NA NA NA NA rs143061545 0.01 0.01 0.007 0.00599042 0.0179 NA 0.0029 NA 0.0102 0.02 NA NA NA 0.0118 0.02 0.35 T 0.016 B 0.007 B 0.000 D 0.974 D 0.975 L 0.89 T -1.081 T 0.041 T 0.096 2.597 14.65 4.75 2.270 2.237 12.286 2.59749 2.59749 0.01 0.017326 0.003858 NA NA NA 13.2863074 338 18 8825946 8825946 G A exonic SOGA2 NA nonsynonymous SNV SOGA2:NM_015210:exon15:c.G4438A:p.G1480S exonic ENSG00000168502 NA nonsynonymous SNV ENSG00000168502:ENST00000518815:exon9:c.G2413A:p.G805S,ENSG00000168502:ENST00000306329:exon13:c.G5395A:p.G1799S,ENSG00000168502:ENST00000517570:exon13:c.G4315A:p.G1439S,ENSG00000168502:ENST00000400050:exon14:c.G4315A:p.G1439S,ENSG00000168502:ENST00000359865:exon15:c.G4438A:p.G1480S,ENSG00000168502:ENST00000306285:exon16:c.G2413A:p.G805S Score=355;Name=lod=37 NA 18p11.22 Score=895;Name=V$NF1_Q6 NA NA NA rs72942342 0.01 0.01 0.008 0.00339457 0.0119 NA 0.0072 NA NA 0.02 NA 0.01 0.002 0.0158 0.02 0.02 D 0.052 B 0.041 B 0.162 N 0.979 N 2.135 M 2.14 T -0.988 T 0.066 T 0.14 0.799 8.203 3.53 0.534 3.647 10.548 0.79864 NA NA 0.019772 0.003404 NA 0.007 NA 13.2858614 338 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$ELK1_01 Name=SUZ12 Name=16 NA rs2229940 0.34 0.34 0.334 0.300719 0.3668 0.3879 0.2968 0.2526 0.2106 0.37 0.37 0.3 0.28 0.3144 0.37 0.09 T 0.091 B 0.103 B 0.108 N 0.808 P 0.695 N -1.56 D -1.052 T 0.000 T 0.206 2.179 13.24 2.98 0.588 2.533 6.801 2.178732 2.178732 0.01 0.366744 0.256922 ID=COSM1131120;OCCURENCE=1(prostate) 0.326 NA 13.2853894 339 3 37366459 37366459 C A exonic GOLGA4 NA nonsynonymous SNV GOLGA4:NM_002078:exon14:c.C3082A:p.Q1028K,GOLGA4:NM_001172713:exon15:c.C3148A:p.Q1050K exonic ENSG00000144674 NA nonsynonymous SNV ENSG00000144674:ENST00000437131:exon12:c.C2695A:p.Q899K,ENSG00000144674:ENST00000361924:exon14:c.C3082A:p.Q1028K,ENSG00000144674:ENST00000356847:exon15:c.C3148A:p.Q1050K Score=458;Name=lod=97 NA 3p22.2 NA NA Name=66 NA rs11718848 0.24 0.24 0.23 0.195887 0.3579 0.0764 0.2983 0.1392 0.1564 0.37 0.09 0.35 0.13 0.3028 0.39 0.55 T 0.993 D 0.915 D 0.004 N 0.000 P 1.735 L 1.66 T -0.955 T 0.000 T 0.146 3.592 18.29 5.28 2.484 4.763 18.915 3.59161 3.59161 0.03 0.389458 0.185059 NA 0.304 NA 13.2831754 339 17 8700982 8700982 C T exonic MFSD6L NA nonsynonymous SNV MFSD6L:NM_152599:exon1:c.G1457A:p.R486H exonic ENSG00000185156 NA nonsynonymous SNV ENSG00000185156:ENST00000329805:exon1:c.G1457A:p.R486H Score=366;Name=lod=41 NA 17p13.1 NA NA NA NA rs2242373 0.18 0.18 0.205 0.19988 0.1759 0.1915 0.1182 0.2156 0.2699 0.17 0.18 0.14 0.22 0.1855 0.22 0.16 T 0.995 D 0.684 P 0.038 N 0.830 P 1.5 L -3.48 D -1.260 T 0.002 T 0.076 3.204 16.73 4.9 2.531 4.132 17.013 3.204461 3.204461 0.18 0.188953 0.208579 NA 0.217 NA 13.2829804 339 12 4702211 4702211 A T exonic DYRK4 NA nonsynonymous SNV DYRK4:NM_003845:exon4:c.A162T:p.Q54H exonic ENSG00000010219 NA nonsynonymous SNV ENSG00000010219:ENST00000010132:exon3:c.A162T:p.Q54H,ENSG00000010219:ENST00000543431:exon3:c.A162T:p.Q54H,ENSG00000010219:ENST00000540757:exon4:c.A162T:p.Q54H,ENSG00000010219:ENST00000542744:exon6:c.A507T:p.Q169H Score=480;Name=lod=119 NA 12p13.32 Score=827;Name=V$IRF2_01 NA NA NA rs55825154 0.01 0.01 0.006 0.00678914 0.0199 NA 0.0115 0.0038 0.001 0.02 NA 0.02 0.0041 0.0142 0.023 0.82 T 0.135 B 0.053 B 0.000 D 1.000 D 0.98 L -0.06 T -1.070 T 0.064 T 0.165 0.5 6.711 3.78 0.916 1.857 6.355 0.499809 NA 0.62 0.022791 0.004766 NA 0.022 NA 13.2764424 340 6 33384473 33384473 C T exonic CUTA NA nonsynonymous SNV CUTA:NM_015921:exon5:c.G425A:p.R142H,CUTA:NM_001014433:exon6:c.G551A:p.R184H,CUTA:NM_001014837:exon6:c.G425A:p.R142H,CUTA:NM_001014838:exon6:c.G425A:p.R142H,CUTA:NM_001014840:exon6:c.G494A:p.R165H exonic ENSG00000112514 NA nonsynonymous SNV ENSG00000112514:ENST00000440279:exon5:c.G425A:p.R142H,ENSG00000112514:ENST00000374496:exon6:c.G425A:p.R142H,ENSG00000112514:ENST00000374500:exon6:c.G551A:p.R184H,ENSG00000112514:ENST00000488034:exon6:c.G494A:p.R165H,ENSG00000112514:ENST00000607266:exon6:c.G425A:p.R142H NA NA 6p21.32 Score=793;Name=V$COMP1_01 Name=NFKB,Pol2-4H8,Pol2,TBP,PAX5-N19,ZBTB33 Name=18 NA rs41267649 0.01 0.01 0.008 0.00559105 0.0189 NA 0.0101 0.0008 0.001 0.02 NA 0.02 NA 0.0203 0.022 0.18 T 0.001 B 0.003 B 0.273 N 0.999 N 0.375 N . . -1.033 T 0.022 T 0.061 0.631 7.391 -5.17 -1.162 -1.933 13.762 0.630765 NA 0.23 0.022209 0.006809 NA NA NA 13.2719244 340 19 651684 651684 C T exonic RNF126 NA nonsynonymous SNV RNF126:NM_194460:exon4:c.G370A:p.A124T exonic ENSG00000070423 NA nonsynonymous SNV ENSG00000070423:ENST00000292363:exon4:c.G370A:p.A124T,ENSG00000070423:ENST00000592418:exon4:c.G271A:p.A91T,ENSG00000070423:ENST00000606702:exon4:c.G337A:p.A113T,ENSG00000070423:ENST00000606896:exon4:c.G325A:p.A109T Score=545;Name=lod=219 NA 19p13.3 NA NA NA NA rs61754469 0.01 0.01 0.005 0.00678914 0.0268 0.001 NA 0.0008 0.0051 0.02 NA 0.0028 NA 0.0199 0.02 0.4 T 0.078 B 0.016 B 0.000 D 1.000 D 1.735 L 2.52 T -1.070 T 0.016 T 0.149 3.3 17.09 3.39 0.972 5.622 9.859 3.300166 3.300166 0.2 0.018806 0.004608 NA NA NA 13.2678274 340 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 341 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 341 19 38572894 38572894 C T exonic SIPA1L3 NA nonsynonymous SNV SIPA1L3:NM_015073:exon3:c.C689T:p.P230L exonic ENSG00000105738 NA nonsynonymous SNV ENSG00000105738:ENST00000222345:exon3:c.C689T:p.P230L Score=466;Name=lod=104 NA 19q13.13 Score=679;Name=V$BRACH_01 NA NA NA rs45572940 0.01 0.01 0.017 0.0071885 0.0239 NA 0.0115 0.0008 0.0031 0.03 NA 0.01 0.002 0.0239 0.043 0.46 T 0.27 B 0.23 B 0.005 N 1.000 D 1.15 L -1.01 T -0.705 T 0.163 T 0.138 3.431 17.61 5.48 2.584 3.182 18.127 3.431445 3.431445 0.31 0.030419 0.005629 NA 0.058 NA 13.2551144 342 1 237048500 237048500 A G exonic MTR NA nonsynonymous SNV MTR:NM_000254:exon26:c.A2756G:p.D919G exonic ENSG00000116984 NA nonsynonymous SNV ENSG00000116984:ENST00000366576:exon13:c.A1418G:p.D473G,ENSG00000116984:ENST00000535889:exon25:c.A2603G:p.D868G,ENSG00000116984:ENST00000366577:exon26:c.A2756G:p.D919G Score=584;Name=lod=314 NA 1q43 NA NA NA NA rs1805087 0.19 0.19 0.187 0.218251 0.173 0.1052 0.1772 0.2844 0.3211 0.17 0.13 0.19 0.31 0.2091 0.31 0.04 D 0.586 P 0.21 B 0.000 D 0.000 P 0.88 L -0.62 T -1.079 T 0.000 T 0.554 2.51 14.35 5.99 2.291 8.545 16.494 2.51022 2.51022 0.1 0.197907 0.264185 NA 0.152 NA 13.2533264 343 12 109017266 109017266 G A exonic SELPLG NA nonsynonymous SNV SELPLG:NM_001206609:exon2:c.C866T:p.S289F,SELPLG:NM_003006:exon2:c.C818T:p.S273F exonic ENSG00000110876 NA nonsynonymous SNV ENSG00000110876:ENST00000228463:exon2:c.C866T:p.S289F,ENSG00000110876:ENST00000550948:exon2:c.C818T:p.S273F,ENSG00000110876:ENST00000388962:exon3:c.C788T:p.S263F NA NA 12q24.11 NA Name=Egr-1,BAF155,FOSL1_(SC-183) NA NA rs61729674 0.06 0.06 0.051 0.0888578 0.0278 0.002 0.0274 0.2458 0.0726 0.02 0.0017 0.03 0.2 0.0425 0.22 0.09 T 0.999 D 0.967 D 0.032 N 1.000 P 1.83 L 1.5 T -1.098 T 0.000 T 0.045 2.256 13.5 2.59 1.059 1.780 6.676 2.255765 2.255765 0.01 0.018488 0.220381 NA NA NA 13.2445454 343 X 153689893 153689893 G A exonic PLXNA3 NA nonsynonymous SNV PLXNA3:NM_017514:exon3:c.G1049A:p.R350Q exonic ENSG00000130827 NA nonsynonymous SNV ENSG00000130827:ENST00000369682:exon3:c.G1049A:p.R350Q Score=500;Name=lod=144 NA Xq28 Score=855;Name=V$E2F_03 NA NA NA rs35285799 0.02 0.02 0.0326 NA NA NA NA NA NA 0.05 NA 0.03 0.01 0.0356 0.056 0.1 T 0.231 B 0.104 B 0.000 D 0.009 P 0.455 N 2.87 T -1.039 T 0.002 T 0.172 3.086 16.3 4.22 1.121 3.197 8.130 3.085515 3.085515 0.14 0.056365 0.00887 NA 0.014 NA 13.2413684 343 1 247267269 247267269 C T exonic ZNF669 NA nonsynonymous SNV ZNF669:NM_024804:exon1:c.G233A:p.C78Y exonic ENSG00000188295 NA nonsynonymous SNV ENSG00000188295:ENST00000343381:exon1:c.G233A:p.C78Y,ENSG00000188295:ENST00000358785:exon1:c.G233A:p.C78Y,ENSG00000188295:ENST00000476158:exon1:c.G233A:p.C78Y Score=259;Name=lod=15 NA 1q44 NA Name=TAF1,GABP,ETS1 Name=7 NA rs61730460 0.02 0.02 0.021 0.0111821 0.0388 NA 0.0159 0.0023 0.0031 0.05 NA 0.02 0.01 0.0338 0.05 0.02 D 0.0 B 0.0 B . . 1.000 N 0 N 4.8 T -0.943 T 0.002 T 0.214 0.058 4.317 -0.684 -1.676 -0.974 3.325 0.058107 NA 0.03 0.022405 0.003393 NA 0.007 NA 13.2383284 344 4 154631587 154631587 C G exonic RNF175 NA nonsynonymous SNV RNF175:NM_173662:exon9:c.G921C:p.L307F exonic ENSG00000145428 NA nonsynonymous SNV ENSG00000145428:ENST00000347063:exon9:c.G921C:p.L307F Score=572;Name=lod=281 NA 4q31.3 Score=894;Name=V$RFX1_01 NA NA NA rs1337 0.1 0.1 0.083 0.0796725 0.1889 0.004 0.147 0.0053 0.0982 0.21 0.0017 0.15 0.002 0.2115 0.21 0.17 T 0.985 D 0.728 P 0.001 N 0.000 P 2.58 M 1.54 T -1.098 T 0.000 T 0.212 3.378 17.39 2.52 0.720 1.070 3.972 3.378453 3.378453 0.13 0.199323 0.036902 NA 0.181 NA 13.2336104 344 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$ZID_01 NA NA NA rs3754415 0.24 0.24 0.243 0.227037 0.2127 0.3393 0.2032 0.1694 0.2209 0.22 0.33 0.22 0.18 0.2073 0.33 0.06 T 0.946 P 0.224 B 0.000 D 0.418 P 0.805 L 1.24 T -0.958 T 0.000 T 0.149 4.025 20.6 4.6 2.374 2.942 9.190 4.025053 4.025053 0.05 0.181893 0.176162 ID=COSM425466;OCCURENCE=1(breast) 0.326 NA 13.2314404 344 11 59190120 59190120 A G exonic OR5A2 NA nonsynonymous SNV OR5A2:NM_001001954:exon1:c.T307C:p.F103L exonic ENSG00000172324 NA nonsynonymous SNV ENSG00000172324:ENST00000302040:exon1:c.T307C:p.F103L NA NA 11q12.1 NA NA NA NA rs17153691 0.05 0.05 0.03 0.0449281 0.0258 0.0615 0.0951 0.0023 0.0695 0.03 0.08 0.09 0.0041 0.0447 0.09 0.15 T 0.999 D 0.997 D 0.003 U 1.000 P 2.295 M 7.57 T -0.368 T 0.000 T 0.143 4.169 21.6 5.47 2.212 4.339 13.787 4.169148 4.169148 0.01 0.031898 0.007497 NA 0.014 NA 13.2309354 344 16 58743454 58743454 A C exonic GOT2 NA nonsynonymous SNV GOT2:NM_002080:exon9:c.T1037G:p.V346G exonic ENSG00000125166 NA nonsynonymous SNV ENSG00000125166:ENST00000434819:exon8:c.T908G:p.V303G,ENSG00000125166:ENST00000245206:exon9:c.T1037G:p.V346G Score=501;Name=lod=145 NA 16q21 Score=796;Name=V$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 345 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 345 19 8808373 8808373 G T exonic ACTL9 NA nonsynonymous SNV ACTL9:NM_178525:exon1:c.C679A:p.H227N exonic ENSG00000181786 NA nonsynonymous SNV ENSG00000181786:ENST00000324436:exon1:c.C679A:p.H227N Score=399;Name=lod=56 NA 19p13.2 Score=812;Name=V$AHRARNT_02 NA NA NA rs4804079 0.58 0.58 0.603 0.60004 0.5427 0.6825 0.5159 0.5726 0.6708 0.53 0.67 0.54 0.6 0.5524 0.67 0 D 0.98 D 0.871 P 0.119 N 0.395 P 0.965 L 3.15 T -1.092 T 0.000 T 0.053 1.769 11.88 4.55 2.531 1.603 6.655 1.76943 1.76943 0.51 0.51593 0.551521 NA 0.558 NA 13.2223034 345 4 5785442 5785442 G A exonic EVC NA nonsynonymous SNV EVC:NM_153717:exon12:c.G1727A:p.R576Q exonic ENSG00000072840 NA nonsynonymous SNV ENSG00000072840:ENST00000264956:exon12:c.G1727A:p.R576Q,ENSG00000072840:ENST00000382674:exon12:c.G1727A:p.R576Q Score=317;Name=lod=26 NA 4p16.2 NA NA NA NA rs1383180 0.34 0.34 0.321 0.301518 0.3996 0.3254 0.4726 0.1793 0.2198 0.4 0.3 0.46 0.19 0.3472 0.46 0.13 T 1.0 D 0.995 D 0.025 N 0.000 P 2.045 M 0.47 T -0.928 T 0.000 T 0.103 3.249 16.9 4.1 1.085 4.544 8.837 3.248776 3.248776 0.21 0.364535 0.197685 NA 0.254 NA 13.2219984 345 10 123903133 123903133 G A exonic TACC2 NA nonsynonymous SNV TACC2:NM_206862:exon7:c.G5746A:p.E1916K exonic ENSG00000138162 NA nonsynonymous SNV ENSG00000138162:ENST00000334433:exon6:c.G5746A:p.E1916K,ENSG00000138162:ENST00000369005:exon7:c.G5746A:p.E1916K NA NA 10q26.13 NA Name=Max,CEBPB Name=15 NA rs12765679 0.12 0.12 0.116 0.0904553 0.2286 NA 0.1138 0.0688 0.0542 0.24 NA 0.15 0.06 0.1615 0.24 0.01 D 0.58 P 0.254 B 0.200 N 1.000 P 0.975 L 0.37 T -1.058 T 0.000 T 0.074 2.413 14.03 3.53 1.209 2.480 10.604 2.413032 2.413032 0 0.224302 0.081934 NA 0.101 NA 13.2189314 345 1 158735595 158735595 C T exonic OR6N1 NA nonsynonymous SNV OR6N1:NM_001005185:exon1:c.G878A:p.R293H exonic ENSG00000197403 NA nonsynonymous SNV ENSG00000197403:ENST00000335094:exon1:c.G878A:p.R293H Score=488;Name=lod=128 NA 1q23.1 Score=938;Name=V$CEBPB_02 Name=CEBPB NA NA rs857824 0.71 0.71 0.697 0.667931 0.7217 0.6171 0.7839 0.7784 0.4335 0.73 0.6 0.79 0.76 0.6795 0.79 0.02 D 0.217 B 0.041 B 0.006 N 0.627 P 3.22 M 1.01 T -0.932 T 0.085 T 0.129 2.402 13.99 4.01 1.279 1.872 8.738 2.401976 2.401976 0.04 0.716628 0.779619 ID=COSM1179737;OCCURENCE=1(prostate) 0.587 NA 13.2155054 346 11 5411398 5411398 T G exonic OR51M1 NA nonsynonymous SNV OR51M1:NM_001004756:exon1:c.T770G:p.L257R exonic ENSG00000184698 NA nonsynonymous SNV ENSG00000184698:ENST00000328611:exon1:c.T770G:p.L257R Score=369;Name=lod=42 NA 11p15.4 NA NA NA NA rs2736531 0.33 0.33 0.314 0.360423 0.3767 0.3145 0.3228 0.3419 0.4427 0.35 0.3 0.35 0.32 0.3688 0.37 0 D 0.922 P 0.866 P 0.134 U 0.000 P 2.095 M 0.71 T -1.025 T 0.000 T 0.359 3.653 18.57 5.24 2.207 4.461 14.097 3.653476 3.653476 0.01 0.373511 0.328565 NA 0.312 NA 13.2143224 346 10 103298099 103298099 G T exonic BTRC NA nonsynonymous SNV BTRC:NM_001256856:exon12:c.G1549T:p.A517S,BTRC:NM_003939:exon12:c.G1519T:p.A507S,BTRC:NM_033637:exon13:c.G1627T:p.A543S exonic ENSG00000166167 NA nonsynonymous SNV ENSG00000166167:ENST00000393441:exon12:c.G1504T:p.A502S,ENSG00000166167:ENST00000408038:exon12:c.G1519T:p.A507S,ENSG00000166167:ENST00000370187:exon13:c.G1627T:p.A543S Score=482;Name=lod=121 NA 10q24.32 NA NA NA NA rs4151060 0.02 0.02 0.019 0.013778 0.0447 NA 0.0187 0.0061 0.0031 0.04 NA 0.02 0.01 0.0286 0.048 0.51 T 0.01 B 0.038 B 0.000 D 1.000 D -0.125 N 1.33 T -1.064 T 0.022 T 0.202 2.732 15.1 5.86 2.777 9.442 20.186 2.73202 2.73202 0.52 0.047791 0.011348 NA NA NA 13.2122424 346 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 346 2 38537579 38537579 T C exonic ATL2 NA nonsynonymous SNV ATL2:NM_001135673:exon8:c.A815G:p.N272S,ATL2:NM_022374:exon8:c.A815G:p.N272S exonic ENSG00000119787 NA nonsynonymous SNV ENSG00000119787:ENST00000449130:exon4:c.A269G:p.N90S,ENSG00000119787:ENST00000402054:exon7:c.A302G:p.N101S,ENSG00000119787:ENST00000406122:exon7:c.A302G:p.N101S,ENSG00000119787:ENST00000539122:exon7:c.A302G:p.N101S,ENSG00000119787:ENST00000546051:exon7:c.A302G:p.N101S,ENSG00000119787:ENST00000332337:exon8:c.A761G:p.N254S,ENSG00000119787:ENST00000378954:exon8:c.A815G:p.N272S,ENSG00000119787:ENST00000419554:exon8:c.A815G:p.N272S,ENSG00000119787:ENST00000452935:exon8:c.A761G:p.N254S Score=499;Name=lod=142 NA 2p22.2 NA NA NA NA rs34873284 0.02 0.02 0.011 0.014377 0.0398 NA 0.0216 0.0045 0.0112 0.04 NA 0.01 0.01 0.033 0.049 0.13 T 0.021 B 0.006 B 0.000 D 1.000 D 1.49 L -0.84 T -0.842 T 0.071 T 0.056 2.946 15.82 5.11 1.917 6.134 14.098 2.945674 2.945674 0.11 0.048837 0.010894 NA 0.043 NA 13.2116964 346 11 65404018 65404018 G A exonic PCNXL3 NA nonsynonymous SNV PCNXL3:NM_032223:exon34:c.G5750A:p.R1917Q exonic ENSG00000197136 NA nonsynonymous SNV ENSG00000197136:ENST00000355703:exon34:c.G5750A:p.R1917Q Score=510;Name=lod=157 NA 11q13.1 Score=797;Name=V$PAX4_01 Name=GATA-1,CCNT2 NA NA rs77200859 0.03 0.03 0.019 0.0471246 0.0338 0.0635 0.0115 NA 0.1329 0.04 0.07 0.01 NA 0.0575 0.07 0.59 T 0.017 B 0.002 B 0.019 N 0.981 N 0.695 N 3.23 T -0.982 T 0.002 T 0.051 2.618 14.71 2.54 1.169 2.673 5.705 2.617598 2.617598 0.12 0.035661 0.010445 NA 0.029 NA 13.2063724 346 14 53619500 53619500 C G exonic DDHD1 NA nonsynonymous SNV DDHD1:NM_001160147:exon1:c.G317C:p.G106A,DDHD1:NM_001160148:exon1:c.G317C:p.G106A,DDHD1:NM_030637:exon1:c.G317C:p.G106A exonic ENSG00000100523 NA nonsynonymous SNV ENSG00000100523:ENST00000323669:exon1:c.G317C:p.G106A,ENSG00000100523:ENST00000357758:exon1:c.G317C:p.G106A,ENSG00000100523:ENST00000395606:exon1:c.G317C:p.G106A Score=552;Name=lod=233 NA 14q22.1 NA NA NA NA rs117525276 0.07 0.07 0.023 0.0722843 0.0318 0.123 0.1412 0.031 0.0685 0.03 0.12 0.13 0.03 0.0649 0.13 0.33 T 1.0 D 0.996 D 0.432 N 0.694 P 0.69 N . . -1.080 T 0.002 T 0.065 2.858 15.52 3.77 1.914 2.008 10.758 2.857904 2.857904 0.04 0.030677 0.021045 NA NA NA 13.2059564 347 12 52992812 52992812 T C exonic KRT72 NA nonsynonymous SNV KRT72:NM_001146225:exon2:c.A511G:p.N171D,KRT72:NM_001146226:exon2:c.A511G:p.N171D,KRT72:NM_080747:exon2:c.A511G:p.N171D exonic ENSG00000170486 NA nonsynonymous SNV ENSG00000170486:ENST00000293745:exon2:c.A511G:p.N171D,ENSG00000170486:ENST00000354310:exon2:c.A511G:p.N171D,ENSG00000170486:ENST00000537672:exon2:c.A511G:p.N171D Score=321;Name=lod=27 NA 12q13.13 Score=876;Name=V$ZID_01 NA NA NA rs11170187 0.36 0.36 0.365 0.372204 0.3638 0.5655 0.2406 0.1906 0.5204 0.38 0.54 0.23 0.21 0.3869 0.54 0.03 D 0.012 B 0.042 B 0.076 N 0.000 P 2.725 M -0.59 T -0.965 T 0.000 T 0.102 2.978 15.93 4.08 1.065 2.780 8.680 2.978363 2.978363 0.05 0.381628 0.258511 NA 0.239 NA 13.2010054 347 16 31473275 31473275 A G exonic ARMC5 NA nonsynonymous SNV ARMC5:NM_001105247:exon2:c.A508G:p.I170V,ARMC5:NM_024742:exon2:c.A508G:p.I170V exonic ENSG00000140691 NA nonsynonymous SNV ENSG00000140691:ENST00000268314:exon2:c.A508G:p.I170V,ENSG00000140691:ENST00000412665:exon2:c.A16G:p.I6V,ENSG00000140691:ENST00000457010:exon2:c.A508G:p.I170V,ENSG00000140691:ENST00000538189:exon3:c.A604G:p.I202V,ENSG00000140691:ENST00000563544:exon3:c.A508G:p.I170V,ENSG00000140691:ENST00000408912:exon4:c.A793G:p.I265V Score=612;Name=lod=409 NA 16p11.2 NA NA NA NA rs35923277 0.02 0.02 0.021 0.0233626 0.0567 NA 0.0202 0.0023 0.044 0.06 NA 0.01 0.01 0.0347 0.06 0.66 T 0.725 P 0.696 P 0.000 D 0.840 N 1.56 L 1.14 T -1.090 T 0.020 T 0.284 2.839 15.46 4.15 1.762 4.176 11.209 2.838937 2.838937 0 0.04605 0.008675 NA 0.022 NA 13.1958834 348 5 7520881 7520881 G T exonic ADCY2 NA nonsynonymous SNV ADCY2:NM_020546:exon3:c.G439T:p.V147L exonic ENSG00000078295 NA nonsynonymous SNV ENSG00000078295:ENST00000338316:exon3:c.G439T:p.V147L Score=585;Name=lod=317 NA 5p15.31 NA NA NA NA rs13166360 0.11 0.11 0.114 0.0916534 0.2117 NA 0.0994 0.0545 0.1074 0.22 NA 0.11 0.06 0.182 0.25 0.06 T 0.598 P 0.26 B 0.000 D 0.000 P 1.995 M -1.0 T -1.130 T 0.000 T 0.203 4.073 20.9 5.45 2.545 5.996 16.452 4.072518 4.072518 0.01 0.248721 0.088516 NA 0.08 NA 13.1909124 348 1 183532580 183532580 G T exonic NCF2 NA nonsynonymous SNV NCF2:NM_001190789:exon10:c.C924A:p.H308Q,NCF2:NM_001190794:exon11:c.C1032A:p.H344Q,NCF2:NM_000433:exon12:c.C1167A:p.H389Q,NCF2:NM_001127651:exon13:c.C1167A:p.H389Q exonic ENSG00000116701 NA nonsynonymous SNV ENSG00000116701:ENST00000420553:exon4:c.C120A:p.H40Q,ENSG00000116701:ENST00000419402:exon6:c.C384A:p.H128Q,ENSG00000116701:ENST00000418089:exon10:c.C924A:p.H308Q,ENSG00000116701:ENST00000413720:exon11:c.C1032A:p.H344Q,ENSG00000116701:ENST00000367535:exon12:c.C1167A:p.H389Q,ENSG00000116701:ENST00000367536:exon13:c.C1167A:p.H389Q Score=295;Name=lod=21 NA 1q25.3 Score=832;Name=V$GR_Q6 NA NA NA rs17849502 0.03 0.03 0.027 0.0181709 0.0596 NA 0.0245 NA 0.0143 0.06 NA 0.02 NA 0.0343 0.06 0.58 T 1.0 D 0.998 D 0.007 N 1.000 N 2.44 M 2.05 T -1.060 T 0.015 T 0.293 3.299 17.08 1.72 0.364 1.629 10.473 3.298941 3.298941 0.05 0.050233 0.011121 ID=COSM1178273;OCCURENCE=1(prostate) 0.007 NA 13.1892004 348 1 179631242 179631242 G A exonic TDRD5 NA nonsynonymous SNV TDRD5:NM_001199092:exon11:c.G829A:p.E277K,TDRD5:NM_001199091:exon14:c.G2164A:p.E722K,TDRD5:NM_173533:exon14:c.G2164A:p.E722K,TDRD5:NM_001199085:exon15:c.G2326A:p.E776K,TDRD5:NM_001199089:exon15:c.G2326A:p.E776K exonic ENSG00000162782 NA nonsynonymous SNV ENSG00000162782:ENST00000417329:exon6:c.G694A:p.E232K,ENSG00000162782:ENST00000294848:exon14:c.G2164A:p.E722K,ENSG00000162782:ENST00000367614:exon14:c.G2164A:p.E722K,ENSG00000162782:ENST00000444136:exon15:c.G2326A:p.E776K Score=534;Name=lod=197 NA 1q25.2 NA NA NA NA rs35448215 0.12 0.12 0.108 0.101837 0.2117 0.0456 0.098 0.0129 0.1697 0.23 0.05 0.12 0.03 0.1981 0.24 0.55 T 0.973 D 0.587 P 0.141 N 0.971 P 2.095 M 2.63 T -1.053 T 0.000 T 0.19 3.805 19.32 4.49 2.699 3.036 9.396 3.805193 3.805193 0.02 0.236047 0.044031 ID=COSM146701;OCCURENCE=1(stomach) 0.159 NA 13.1874864 349 17 56585872 56585872 G C exonic MTMR4 NA nonsynonymous SNV MTMR4:NM_004687:exon7:c.C508G:p.L170V exonic ENSG00000108389 NA nonsynonymous SNV ENSG00000108389:ENST00000583656:exon6:c.C550G:p.L184V,ENSG00000108389:ENST00000323456:exon7:c.C508G:p.L170V,ENSG00000108389:ENST00000579925:exon7:c.C508G:p.L170V Score=556;Name=lod=242 NA 17q22 Score=813;Name=V$HNF4_01_B NA NA NA rs3744108 0.4 0.4 0.377 0.394968 0.3648 0.5188 0.5591 0.2481 0.3804 0.37 0.52 0.53 0.23 0.4093 0.53 0.21 T 0.25 B 0.1 B 0.000 D 0.001 P 0.675 N -3.1 D -0.971 T 0.000 T 0.223 1.896 12.3 5.11 1.585 1.698 8.487 1.896361 1.896361 0.42 0.374651 0.28325 NA 0.362 NA 13.1845824 349 2 136393658 136393658 A G exonic R3HDM1 NA nonsynonymous SNV R3HDM1:NM_015361:exon11:c.A808G:p.M270V exonic ENSG00000048991 NA nonsynonymous SNV ENSG00000048991:ENST00000410054:exon8:c.A640G:p.M214V,ENSG00000048991:ENST00000329971:exon9:c.A676G:p.M226V,ENSG00000048991:ENST00000409478:exon9:c.A676G:p.M226V,ENSG00000048991:ENST00000264160:exon11:c.A808G:p.M270V,ENSG00000048991:ENST00000409606:exon11:c.A808G:p.M270V Score=635;Name=lod=506 NA 2q21.3 NA NA NA NA rs961360 0.31 0.31 0.309 0.309305 0.2336 0.4702 0.2666 0.2511 0.3303 0.23 0.48 0.28 0.28 0.2402 0.48 . . 0.932 P 0.949 D 0.000 D 0.011 P 0.345 N 1.04 T -0.894 T 0.000 T 0.246 1.256 10.09 5.58 2.243 6.932 16.033 1.255536 1.255536 0.36 0.175349 0.199047 NA 0.232 NA 13.1841844 349 11 133714522 133714522 G A exonic SPATA19 NA nonsynonymous SNV SPATA19:NM_174927:exon3:c.C149T:p.A50V exonic ENSG00000166118 NA nonsynonymous SNV ENSG00000166118:ENST00000299140:exon3:c.C149T:p.A50V,ENSG00000166118:ENST00000532889:exon3:c.C149T:p.A50V Score=426;Name=lod=72 NA 11q25 NA NA NA NA rs2282602 0.36 0.36 0.344 0.339457 0.3926 0.6022 0.317 0.1044 0.3476 0.39 0.58 0.33 0.1 0.3825 0.58 0.07 T 0.999 D 0.994 D 0.000 D 0.025 P 1.04 L 0.45 T -0.879 T 0.000 T 0.363 3.991 20.4 5.02 2.493 3.306 14.193 3.990884 3.990884 0.11 0.374215 0.168333 NA 0.297 NA 13.1840184 349 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 349 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 350 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 350 16 87445839 87445839 C T exonic ZCCHC14 NA nonsynonymous SNV ZCCHC14:NM_015144:exon12:c.G2077A:p.V693M exonic ENSG00000140948 NA nonsynonymous SNV ENSG00000140948:ENST00000268616:exon12:c.G2077A:p.V693M,ENSG00000140948:ENST00000568020:exon12:c.G2077A:p.V693M Score=452;Name=lod=92 NA 16q24.2 Score=960;Name=V$AP2REP_01 NA NA NA rs3748400 0.46 0.46 0.458 0.461462 0.7594 0.3115 0.5259 0.1135 0.7342 0.75 0.29 0.56 0.13 0.6463 0.76 0.16 T 1.0 D 0.997 D 0.000 D 0.235 P 0.625 N 1.77 T -1.103 T 0.000 T 0.209 3.179 16.64 4.51 1.107 1.327 12.129 3.179118 3.179118 0.04 0.760819 0.240783 NA 0.333 NA 13.1668144 350 20 30818850 30818850 C T exonic POFUT1 NA nonsynonymous SNV POFUT1:NM_015352:exon6:c.C964T:p.L322F exonic ENSG00000101346 NA nonsynonymous SNV ENSG00000101346:ENST00000539210:exon3:c.C331T:p.L111F,ENSG00000101346:ENST00000375749:exon6:c.C964T:p.L322F Score=474;Name=lod=113 NA 20q11.21 NA NA NA NA rs17268666 0.03 0.03 0.027 0.0197684 0.0716 NA 0.0317 0.0015 0.0031 0.07 NA 0.04 NA 0.0391 0.07 0.7 T 0.003 B 0.006 B 0.000 D 1.000 D 1.04 L 1.41 T -1.091 T 0.004 T 0.067 1.732 11.75 3.34 1.215 1.201 9.367 1.732117 1.732117 0.5 0.056279 0.013164 NA 0.014 NA 13.1663544 351 6 36269725 36269725 A G exonic PNPLA1 NA nonsynonymous SNV PNPLA1:NM_001145716:exon6:c.A605G:p.E202G,PNPLA1:NM_001145717:exon6:c.A863G:p.E288G,PNPLA1:NM_173676:exon6:c.A578G:p.E193G exonic ENSG00000180316 NA nonsynonymous SNV ENSG00000180316:ENST00000312917:exon6:c.A605G:p.E202G,ENSG00000180316:ENST00000388715:exon6:c.A578G:p.E193G,ENSG00000180316:ENST00000394571:exon6:c.A863G:p.E288G,ENSG00000180316:ENST00000457797:exon6:c.A866G:p.E289G NA NA 6p21.31 Score=884;Name=V$NF1_Q6 NA Name=20 NA rs34598813 0.07 0.07 0.071 0.0784744 0.0437 0.0813 0.0346 0.1331 0.0685 0.05 0.08 0.04 0.12 0.0661 0.13 0.02 D 0.925 P 0.621 P 0.340 N 1.000 P 1.04 L 1.45 T -1.105 T 0.050 T 0.158 3.239 16.86 3.02 0.336 1.272 9.690 3.238826 3.238826 NA 0.059186 0.121198 NA 0.094 NA 13.1643474 351 6 46632594 46632594 T C exonic SLC25A27 NA nonsynonymous SNV SLC25A27:NM_001204051:exon5:c.T590C:p.I197T,SLC25A27:NM_001204052:exon5:c.T590C:p.I197T,SLC25A27:NM_004277:exon5:c.T590C:p.I197T exonic ENSG00000153291 NA nonsynonymous SNV ENSG00000153291:ENST00000603486:exon3:c.T380C:p.I127T,ENSG00000153291:ENST00000371347:exon5:c.T590C:p.I197T,ENSG00000153291:ENST00000411689:exon5:c.T590C:p.I197T,ENSG00000153291:ENST00000452689:exon6:c.T332C:p.I111T Score=599;Name=lod=364 NA 6p12.3 Score=785;Name=V$CDP_01 NA NA NA rs35884480 0.03 0.03 0.024 0.029353 0.0577 NA 0.036 0.0038 0.0603 0.06 NA 0.05 0.01 0.0486 0.064 0.21 T 0.051 B 0.06 B 0.004 N 0.955 D 0.72 N -1.41 T -0.769 T 0.202 T 0.53 2.25 13.48 5.13 1.929 5.876 12.905 2.250203 2.250203 0.06 0.063721 0.010787 NA 0.014 NA 13.1633124 351 1 247752161 247752161 T C exonic OR2G2 NA nonsynonymous SNV OR2G2:NM_001001915:exon1:c.T500C:p.L167P exonic ENSG00000177489 NA nonsynonymous SNV ENSG00000177489:ENST00000320065:exon1:c.T500C:p.L167P Score=329;Name=lod=29 NA 1q44 NA NA NA NA rs10925085 0.35 0.35 0.329 0.307508 0.4125 0.5228 0.3501 0.0582 0.2843 0.41 0.53 0.35 0.06 0.3623 0.53 0 D 0.999 D 0.99 D 0.009 U 0.726 P 2.865 M 8.48 T -1.097 T 0.000 T 0.385 2.655 14.84 4.29 1.789 0.342 11.468 2.655025 2.655025 0 0.402791 0.105538 NA 0.297 NA 13.1557424 351 7 45217015 45217015 T C exonic RAMP3 NA nonsynonymous SNV RAMP3:NM_005856:exon2:c.T166C:p.W56R exonic ENSG00000122679 NA nonsynonymous SNV ENSG00000122679:ENST00000242249:exon2:c.T166C:p.W56R,ENSG00000122679:ENST00000481345:exon2:c.T166C:p.W56R,ENSG00000122679:ENST00000496212:exon2:c.T166C:p.W56R Score=393;Name=lod=53 NA 7p13 Score=931;Name=V$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 351 16 77775672 77775672 A G exonic NUDT7 NA nonsynonymous SNV NUDT7:NM_001243661:exon3:c.A383G:p.E128G,NUDT7:NM_001105663:exon4:c.A542G:p.E181G,NUDT7:NM_001243660:exon4:c.A497G:p.E166G exonic ENSG00000140876 NA nonsynonymous SNV ENSG00000140876:ENST00000437314:exon3:c.A383G:p.E128G,ENSG00000140876:ENST00000268533:exon4:c.A542G:p.E181G Score=272;Name=lod=17 NA 16q23.1 NA NA NA NA rs16946429 0.09 0.09 0.08 0.0824681 0.0557 0.1458 0.1744 0.0408 0.0358 0.05 0.14 0.15 0.04 0.0651 0.15 0.09 T 0.999 D 0.974 D 0.006 N 0.000 P 2.175 M 0.86 T -1.020 T 0.002 T 0.088 2.213 13.36 4.45 0.938 2.655 10.322 2.212544 2.212544 0.02 0.05746 0.047248 NA 0.072 NA 13.1550734 352 3 23848835 23848835 A C exonic UBE2E1 NA nonsynonymous SNV UBE2E1:NM_003341:exon2:c.A75C:p.E25D,UBE2E1:NM_182666:exon2:c.A75C:p.E25D exonic ENSG00000170142 NA nonsynonymous SNV ENSG00000170142:ENST00000442670:exon1:c.A75C:p.E25D,ENSG00000170142:ENST00000306627:exon2:c.A75C:p.E25D,ENSG00000170142:ENST00000346855:exon2:c.A75C:p.E25D Score=675;Name=lod=738 NA 3p24.3 NA Name=Pol2 Name=118 NA rs36060625 0.04 0.04 0.028 0.0407348 0.0586 0.001 0.147 0.0008 0.0419 0.06 NA 0.11 0.0041 0.0619 0.11 0.42 T 0.002 B 0.004 B 0.001 N 1.000 D 0 N 1.5 T -1.140 T 0.003 T 0.096 0.477 6.591 3.31 0.814 2.315 5.934 0.477351 NA 0.37 0.060349 0.01566 NA 0.094 NA 13.1524844 353 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 353 16 85834818 85834818 G A exonic COX4I1 NA nonsynonymous SNV COX4I1:NM_001861:exon2:c.G7A:p.A3T exonic ENSG00000131143 NA nonsynonymous SNV ENSG00000131143:ENST00000564903:exon1:c.G7A:p.A3T,ENSG00000131143:ENST00000253452:exon2:c.G7A:p.A3T,ENSG00000131143:ENST00000561569:exon2:c.G7A:p.A3T,ENSG00000131143:ENST00000562336:exon2:c.G7A:p.A3T,ENSG00000131143:ENST00000564544:exon2:c.G7A:p.A3T,ENSG00000131143:ENST00000565078:exon2:c.G7A:p.A3T,ENSG00000131143:ENST00000566115:exon2:c.G7A:p.A3T,ENSG00000131143:ENST00000568794:exon2:c.G7A:p.A3T Score=454;Name=lod=93 NA 16q24.1 Score=888;Name=V$FOXD3_01 NA NA NA rs11557187 0.14 0.14 0.129 0.130591 0.0477 0.3085 0.0793 0.1188 0.0849 0.05 0.29 0.08 0.12 0.0906 0.29 0.61 T 0.18 B 0.03 B 0.000 D 0.000 P 1.16 L 0.7 T -1.001 T 0.000 T 0.369 3.026 16.09 3.41 1.261 2.920 6.352 3.025693 3.025693 0.06 0.056047 0.104413 NA 0.051 NA 13.1389864 353 3 37574951 37574951 G A exonic ITGA9 NA nonsynonymous SNV ITGA9:NM_002207:exon14:c.G1520A:p.G507E exonic ENSG00000144668 NA nonsynonymous SNV ENSG00000144668:ENST00000264741:exon14:c.G1520A:p.G507E,ENSG00000144668:ENST00000422441:exon14:c.G1520A:p.G507E Score=395;Name=lod=54 NA 3p22.2 Score=768;Name=V$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 354 2 234229320 234229320 A G exonic SAG NA nonsynonymous SNV SAG:NM_000541:exon5:c.A226G:p.I76V exonic ENSG00000130561 NA nonsynonymous SNV ENSG00000130561:ENST00000409110:exon5:c.A226G:p.I76V,ENSG00000130561:ENST00000447536:exon5:c.A226G:p.I76V Score=547;Name=lod=223 NA 2q37.1 NA NA NA NA rs7565275 0.06 0.06 0.049 0.0744808 0.0517 0.0298 0.0403 0.1142 0.1145 0.06 0.03 0.04 0.12 0.0954 0.12 0.08 T 0.74 P 0.802 P 0.000 D 0.000 P 1.6 L 1.57 T -1.095 T 0.003 T 0.071 2.565 14.54 4.46 2.003 2.276 14.225 2.565381 2.565381 0.02 0.051243 0.091596 NA 0.167 NA 13.1349904 354 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 354 6 6152140 6152140 C T exonic F13A1 NA nonsynonymous SNV F13A1:NM_000129:exon14:c.G1951A:p.V651I exonic ENSG00000124491 NA nonsynonymous SNV ENSG00000124491:ENST00000264870:exon14:c.G1951A:p.V651I Score=454;Name=lod=93 NA 6p25.1 Score=756;Name=V$PAX6_01 NA NA NA rs5987 0.07 0.07 0.069 0.0722843 0.0746 0.0903 0.0504 0.034 0.1186 0.07 0.1 0.05 0.03 0.0676 0.1 0.86 T 0.285 B 0.291 B 0.000 D 0.000 P 0.94 L -0.54 T -1.018 T 0.118 T 0.093 0.36 5.956 5.37 2.788 1.433 9.927 0.360336 NA 0.25 0.059302 0.030413 NA 0.072 NA 13.1318314 355 1 153277423 153277423 C T exonic PGLYRP3 NA nonsynonymous SNV PGLYRP3:NM_052891:exon3:c.G376A:p.G126S exonic ENSG00000159527 NA nonsynonymous SNV ENSG00000159527:ENST00000290722:exon3:c.G376A:p.G126S Score=295;Name=lod=21 NA 1q21.3 Score=878;Name=V$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 355 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 355 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 355 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 356 21 40720494 40720494 C T exonic HMGN1 NA nonsynonymous SNV HMGN1:NM_004965:exon2:c.G25A:p.A9T exonic ENSG00000205581 NA nonsynonymous SNV ENSG00000205581:ENST00000288344:exon2:c.G25A:p.A9T,ENSG00000205581:ENST00000380747:exon2:c.G73A:p.A25T,ENSG00000205581:ENST00000380748:exon2:c.G25A:p.A9T,ENSG00000205581:ENST00000380749:exon2:c.G25A:p.A9T,ENSG00000205581:ENST00000419378:exon2:c.G25A:p.A9T,ENSG00000205581:ENST00000431390:exon2:c.G25A:p.A9T,ENSG00000205581:ENST00000436324:exon2:c.G25A:p.A9T,ENSG00000205581:ENST00000443046:exon2:c.G25A:p.A9T Score=259;Name=lod=15 NA 21q22.2 NA Name=E2F1,TAF1,NFKB,Pol2-4H8,Pol2,HA-E2F1,TBP,YY1,BRCA1_(C-1863),E2F4 Name=116 NA rs34613278 0.05 0.05 0.041 0.0591054 0.0636 0.0149 0.0706 0.0817 0.0613 0.06 0.01 0.09 0.06 0.0841 0.09 0.75 T 0.004 B 0.004 B . . 1.000 D 0.96 L . . -1.134 T 0.006 T 0.05 1.621 11.38 3.24 0.711 2.858 10.670 1.621432 1.621432 0.31 0.073308 0.083717 NA 0.109 NA 13.1123254 356 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 356 16 84256422 84256422 C T exonic KCNG4 NA nonsynonymous SNV KCNG4:NM_172347:exon3:c.G961A:p.E321K exonic ENSG00000168418 NA nonsynonymous SNV ENSG00000168418:ENST00000308251:exon3:c.G961A:p.E321K Score=272;Name=lod=17 NA 16q24.1 Score=797;Name=V$OLF1_01 NA NA NA rs4782905 0.05 0.05 0.045 0.0503195 0.0835 0.0317 0.036 0.0219 0.0838 0.08 0.04 0.05 0.02 0.0712 0.08 0.63 T 0.083 B 0.036 B 0.099 N 1.000 D -0.09 N -4.02 D -0.818 T 0.148 T 0.148 1.358 10.47 4.66 1.362 0.458 13.758 1.35795 1.35795 NA 0.072226 0.024091 NA 0.058 NA 13.1064074 357 5 149006726 149006726 A C exonic ARHGEF37 NA nonsynonymous SNV ARHGEF37:NM_001001669:exon11:c.A1552C:p.S518R exonic ENSG00000183111 NA nonsynonymous SNV ENSG00000183111:ENST00000333677:exon11:c.A1552C:p.S518R Score=498;Name=lod=141 NA 5q32 NA NA NA NA rs7732714 0.12 0.12 0.14 0.128594 0.0626 0.0843 0.049 0.2723 0.1043 0.07 0.1 0.06 0.27 0.0953 0.27 0.01 D 0.906 P 0.72 P 0.000 D 0.169 P 1.87 L 0.97 T -1.085 T 0.000 T 0.066 3.951 20.2 3.93 0.766 4.111 11.816 3.951467 3.951467 0.06 0.073974 0.223598 ID=COSM149985;OCCURENCE=1(stomach) 0.109 NA 13.1014594 358 2 160599717 160599717 C G exonic MARCH7 NA nonsynonymous SNV MARCH7:NM_022826:exon3:c.C299G:p.T100S exonic ENSG00000136536 NA nonsynonymous SNV ENSG00000136536:ENST00000409591:exon2:c.C185G:p.T62S,ENSG00000136536:ENST00000259050:exon3:c.C299G:p.T100S,ENSG00000136536:ENST00000539065:exon3:c.C299G:p.T100S,ENSG00000136536:ENST00000421037:exon4:c.C299G:p.T100S,ENSG00000136536:ENST00000409175:exon5:c.C299G:p.T100S Score=622;Name=lod=450 NA 2q24.2 NA NA NA NA rs17813964 0.05 0.05 0.042 0.0383387 0.0865 0.0238 0.0447 0.0038 0.046 0.09 0.02 0.05 0.01 0.0681 0.09 0.67 T 0.996 D 0.98 D 0.059 N 0.939 N 1.265 L 2.73 T -1.050 T 0.012 T 0.143 2.462 14.19 5.54 2.607 5.019 17.673 2.462449 2.462449 0.32 0.084884 0.015887 NA 0.022 NA 13.0938494 358 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=JunD,c-Jun,CCNT2,CEBPB,NF-YB,GABP,SP2_(SC-643),CTCF_(SC-5916),eGFP-JunD,E2F4,E2F6,CTCF,E2F6_(H-50),Max,USF-1,c-Myc,TAL1_(SC-12984),CHD2_(N-1250) 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 359 17 5058808 5058808 G A exonic USP6 NA nonsynonymous SNV USP6:NM_004505:exon23:c.G2735A:p.R912Q exonic ENSG00000129204 NA nonsynonymous SNV ENSG00000129204:ENST00000250066:exon23:c.G2735A:p.R912Q,ENSG00000129204:ENST00000304328:exon24:c.G1784A:p.R595Q,ENSG00000129204:ENST00000574788:exon31:c.G2735A:p.R912Q Score=687;Name=lod=828 NA 17p13.2 Score=799;Name=V$STAT1_01 NA NA NA rs9899177 0.4 0.4 0.361 0.337061 0.6034 0.1706 0.6052 0.1936 0.2382 0.59 0.16 0.61 0.22 0.5087 0.64 0.79 T 0.999 D 0.876 P 0.000 D 0.000 P 1.75 L 2.99 T -1.109 T 0.000 T 0.481 3.402 17.49 2.91 1.614 6.359 11.623 3.402406 3.402406 0.35 0.636512 0.293236 NA 0.471 NA 13.0847214 359 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 359 5 16769273 16769273 G A exonic MYO10 NA nonsynonymous SNV MYO10:NM_012334:exon10:c.C970T:p.R324W exonic ENSG00000145555 NA nonsynonymous SNV ENSG00000145555:ENST00000513610:exon10:c.C970T:p.R324W,ENSG00000145555:ENST00000513882:exon10:c.C1003T:p.R335W Score=343;Name=lod=33 NA 5p15.1 Score=881;Name=V$ELK1_01 NA NA NA rs11750538 0.51 0.51 0.501 0.48123 0.5984 0.5357 0.4006 0.3396 0.5532 0.6 0.55 0.47 0.35 0.5558 0.6 0.12 T 0.989 D 0.72 P . . 0.000 P 1.085 L -2.39 D -0.928 T 0.000 T 0.439 0.948 8.864 4.82 1.359 2.849 13.502 0.947529 NA 0.1 0.598283 0.387962 NA 0.543 NA 13.0808504 359 11 100061865 100061865 A G exonic CNTN5 NA nonsynonymous SNV CNTN5:NM_175566:exon11:c.A1366G:p.I456V,CNTN5:NM_001243270:exon13:c.A1588G:p.I530V,CNTN5:NM_001243271:exon14:c.A1588G:p.I530V,CNTN5:NM_014361:exon14:c.A1588G:p.I530V exonic ENSG00000149972 NA nonsynonymous SNV ENSG00000149972:ENST00000418526:exon11:c.A1366G:p.I456V,ENSG00000149972:ENST00000279463:exon12:c.A1588G:p.I530V,ENSG00000149972:ENST00000528682:exon13:c.A1588G:p.I530V,ENSG00000149972:ENST00000524871:exon14:c.A1588G:p.I530V,ENSG00000149972:ENST00000527185:exon14:c.A1588G:p.I530V Score=583;Name=lod=311 NA 11q22.1 NA NA NA NA rs11223168 0.08 0.08 0.081 0.0710863 0.1004 0.0645 0.0677 0.0885 0.0266 0.1 0.04 0.08 0.1 0.0713 0.11 0.41 T 0.001 B 0.007 B 0.000 D 0.696 D 0.13 N -0.11 T -1.073 T 0.003 T 0.351 0.574 7.102 4.39 2.225 1.263 7.331 0.574204 NA 0.24 0.084952 0.112859 NA 0.072 NA 13.0766814 360 11 123777502 123777502 C T exonic OR8D4 NA nonsynonymous SNV OR8D4:NM_001005197:exon1:c.C364T:p.R122C exonic ENSG00000181518 NA nonsynonymous SNV ENSG00000181518:ENST00000321355:exon1:c.C364T:p.R122C Score=441;Name=lod=83 NA 11q24.1 NA NA NA NA rs61907183 0.07 0.07 0.062 0.0477236 0.1054 0.0089 0.0447 0.0469 0.0317 0.11 0.01 0.05 0.08 0.0716 0.11 0.02 D 0.258 B 0.032 B 0.005 N 0.020 P 2.35 M -1.09 T -0.731 T 0.013 T 0.264 1.417 10.68 3.81 1.423 1.561 9.601 1.41721 1.41721 0.01 0.085369 0.052906 NA 0.065 NA 13.0709644 361 11 73020846 73020846 G T exonic ARHGEF17 NA nonsynonymous SNV ARHGEF17:NM_014786:exon1:c.G1163T:p.R388L exonic ENSG00000110237 NA nonsynonymous SNV ENSG00000110237:ENST00000263674:exon1:c.G1163T:p.R388L Score=336;Name=lod=31 NA 11q13.4 Score=823;Name=V$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 361 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 361 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 362 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,Pol2,POU2F2,Oct-2 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 362 12 108051406 108051406 G A exonic BTBD11 NA nonsynonymous SNV BTBD11:NM_001017523:exon15:c.G1837A:p.G613S,BTBD11:NM_001018072:exon17:c.G3226A:p.G1076S exonic ENSG00000151136 NA nonsynonymous SNV ENSG00000151136:ENST00000494235:exon7:c.G463A:p.G155S,ENSG00000151136:ENST00000357167:exon15:c.G1837A:p.G613S,ENSG00000151136:ENST00000420571:exon15:c.G2869A:p.G957S,ENSG00000151136:ENST00000280758:exon17:c.G3226A:p.G1076S Score=605;Name=lod=385 NA 12q23.3 Score=810;Name=V$GRE_C NA NA NA rs12303478 0.08 0.08 0.084 0.104832 0.0964 0.001 0.0692 0.1989 0.1186 0.09 0.0017 0.09 0.16 0.0892 0.16 0.33 T 0.123 B 0.008 B 0.000 D 0.000 P 1.445 L 1.46 T -1.113 T 0.001 T 0.154 3.032 16.12 5.6 2.644 3.360 19.630 3.031635 3.031635 0.22 0.093953 0.16364 NA 0.174 NA 13.0537804 362 15 100692953 100692953 G A exonic ADAMTS17 NA nonsynonymous SNV ADAMTS17:NM_139057:exon10:c.C1337T:p.T446I exonic ENSG00000140470 NA nonsynonymous SNV ENSG00000140470:ENST00000268070:exon10:c.C1337T:p.T446I Score=517;Name=lod=169 NA 15q26.3 Score=716;Name=V$NRSF_01 NA NA NA rs72755233 0.05 0.05 0.039 0.0305511 0.1044 NA 0.0447 0.0045 0.0112 0.11 NA 0.05 0.01 0.0726 0.11 0.23 T 0.213 B 0.09 B 0.059 N 0.881 D 0.97 L 4.0 T -0.760 T 0.000 T 0.09 1.357 10.46 4.6 2.633 1.450 13.026 1.357425 1.357425 0.05 0.10314 0.017022 NA 0.123 NA 13.0531934 362 2 132241704 132241704 C T exonic MZT2A NA nonsynonymous SNV MZT2A:NM_001085365:exon3:c.G407A:p.R136H exonic ENSG00000173272 NA nonsynonymous SNV ENSG00000173272:ENST00000309451:exon3:c.G407A:p.R136H Score=493;Name=lod=135 NA 2q21.1 NA NA NA NA rs11553182 0.15 0.15 0.172 0.167931 0.0924 0.004 0.1037 0.4607 0.0644 0.08 0.0035 0.11 0.48 0.102 0.48 0.1 T 0.072 B 0.012 B 0.000 D 0.002 P 1.955 M 0.85 T -0.932 T 0.000 T 0.171 2.104 12.99 2.4 1.337 3.776 10.509 2.104319 2.104319 0.15 0.0913 0.398182 NA 0.196 NA 13.0476334 362 13 36202269 36202269 A G exonic NBEA NA nonsynonymous SNV NBEA:NM_001204197:exon9:c.A880G:p.I294V,NBEA:NM_015678:exon49:c.A7501G:p.I2501V exonic ENSG00000172915 NA nonsynonymous SNV ENSG00000172915:ENST00000379922:exon3:c.A172G:p.I58V,ENSG00000172915:ENST00000537702:exon9:c.A880G:p.I294V,ENSG00000172915:ENST00000379939:exon48:c.A7492G:p.I2498V,ENSG00000172915:ENST00000400445:exon49:c.A7501G:p.I2501V,ENSG00000172915:ENST00000540320:exon49:c.A7501G:p.I2501V,ENSG00000172915:ENST00000310336:exon50:c.A7501G:p.I2501V Score=673;Name=lod=725 NA 13q13.3 Score=811;Name=V$COMP1_01 NA NA NA rs11538677 0.05 0.05 0.04 0.0301518 0.1083 0.001 0.0303 0.0038 0.0153 0.11 0.0035 0.03 0.002 0.0748 0.11 0.09 T 0.907 P 0.73 P 0.000 N 1.000 D 1.495 L -1.44 T -0.966 T 0.020 T 0.189 4.046 20.8 3.18 0.422 6.211 9.882 4.045513 4.045513 0.01 0.10339 0.018763 NA 0.08 NA 13.0468434 363 13 25029218 25029218 C T exonic PARP4 NA nonsynonymous SNV PARP4:NM_006437:exon22:c.G2695A:p.A899T exonic ENSG00000102699 NA nonsynonymous SNV ENSG00000102699:ENST00000381989:exon22:c.G2695A:p.A899T Score=336;Name=lod=31 NA 13q12.12 NA NA NA NA rs2275660 0.66 0.66 0.637 0.654153 0.7763 0.6498 0.8098 0.4463 0.7035 0.77 0.63 0.79 0.45 0.742 0.79 0.12 T 1.0 D 0.999 D 0.000 D 0.000 P 2.02 M 3.11 T -1.128 T 0.000 T 0.229 3.303 17.1 4.72 2.481 5.868 15.285 3.303185 3.303185 0.1 0.770116 0.501816 NA 0.543 NA 13.0449174 363 6 42891022 42891022 G A exonic PTCRA NA nonsynonymous SNV PTCRA:NM_001243168:exon2:c.G316A:p.V106I,PTCRA:NM_138296:exon2:c.G316A:p.V106I,PTCRA:NM_001243169:exon3:c.G241A:p.V81I exonic ENSG00000171611 NA nonsynonymous SNV ENSG00000171611:ENST00000304672:exon2:c.G316A:p.V106I,ENSG00000171611:ENST00000441198:exon3:c.G241A:p.V81I Score=358;Name=lod=38 NA 6p21.1 NA NA NA NA rs9471966 0.23 0.23 0.257 0.240415 0.2893 0.0238 0.2133 0.3994 0.2178 0.28 0.03 0.23 0.41 0.2383 0.41 0.07 T 0.995 D 0.894 P 0.001 D 0.000 P 1.1 L 0.58 T -0.864 T 0.141 T 0.104 4.363 23 4.82 2.668 3.635 9.602 4.362653 4.362653 0.1 0.264884 0.345438 NA 0.254 NA 13.0408494 363 5 125887715 125887715 T G exonic ALDH7A1 NA nonsynonymous SNV ALDH7A1:NM_001202404:exon12:c.A1204C:p.K402Q,ALDH7A1:NM_001182:exon14:c.A1315C:p.K439Q,ALDH7A1:NM_001201377:exon14:c.A1231C:p.K411Q exonic ENSG00000164904 NA nonsynonymous SNV ENSG00000164904:ENST00000447989:exon12:c.A1204C:p.K402Q,ENSG00000164904:ENST00000553117:exon12:c.A1123C:p.K375Q,ENSG00000164904:ENST00000409134:exon14:c.A1315C:p.K439Q Score=556;Name=lod=242 NA 5q23.2 Score=750;Name=V$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 364 2 10717806 10717806 C T exonic NOL10 NA nonsynonymous SNV NOL10:NM_001261392:exon19:c.G1825A:p.D609N,NOL10:NM_001261394:exon19:c.G1753A:p.D585N,NOL10:NM_024894:exon20:c.G1903A:p.D635N exonic ENSG00000115761 NA nonsynonymous SNV ENSG00000115761:ENST00000345985:exon19:c.G1753A:p.D585N,ENSG00000115761:ENST00000538384:exon19:c.G1825A:p.D609N,ENSG00000115761:ENST00000542668:exon19:c.G1753A:p.D585N,ENSG00000115761:ENST00000381685:exon20:c.G1903A:p.D635N Score=463;Name=lod=102 NA 2p25.1 NA NA NA NA rs2287059 0.17 0.17 0.157 0.133387 0.2744 0.128 0.1844 0.0113 0.1227 0.27 0.13 0.21 0.02 0.23 0.3 0.51 T 0.5 P 0.174 B 0.000 D 0.000 P 2.075 M 2.28 T -1.010 T 0.000 T 0.129 2.774 15.24 5.99 2.840 4.025 20.478 2.773842 2.773842 NA 0.303837 0.059237 NA 0.174 NA 13.0250964 365 10 115392919 115392919 T A exonic NRAP NA nonsynonymous SNV NRAP:NM_006175:exon15:c.A1451T:p.N484I,NRAP:NM_001261463:exon16:c.A1556T:p.N519I,NRAP:NM_198060:exon16:c.A1556T:p.N519I exonic ENSG00000197893 NA nonsynonymous SNV ENSG00000197893:ENST00000360478:exon15:c.A1451T:p.N484I,ENSG00000197893:ENST00000369360:exon15:c.A1451T:p.N484I,ENSG00000197893:ENST00000359988:exon16:c.A1556T:p.N519I,ENSG00000197893:ENST00000369358:exon16:c.A1556T:p.N519I Score=483;Name=lod=122 NA 10q25.3 NA NA NA NA rs2270182 0.26 0.26 0.247 0.258786 0.2714 0.1915 0.2248 0.3336 0.2382 0.29 0.2 0.21 0.31 0.2638 0.35 0.19 T 0.958 D 0.783 P 0.000 D 0.353 P 0.46 N 0.84 T -0.966 T 0.000 T 0.368 3.344 17.26 5.67 2.159 2.477 11.435 3.344359 3.344359 0.03 0.277093 0.353155 NA 0.239 NA 13.0210404 365 13 77574983 77574983 A G exonic CLN5 NA nonsynonymous SNV CLN5:NM_006493:exon4:c.A1103G:p.K368R exonic ENSG00000102805 NA nonsynonymous SNV ENSG00000102805:ENST00000377453:exon4:c.A1103G:p.K368R Score=355;Name=lod=37 NA 13q22.3 NA NA Name=42 NA rs1800209 0.25 0.25 0.274 0.244609 0.0974 0.2798 0.2003 0.472 0.0838 0.1 0.3 0.17 0.48 0.1417 0.48 1 T 0.0 B 0.001 B 0.000 N 0.000 P -1.255 N -2.34 D -0.988 T 0.000 T 0.054 -0.357 2.317 5.0 0.839 3.797 7.212 -0.356551 NA 0.88 0.078678 0.401952 NA 0.297 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116751.2;CLNDSDB=.;CLNDSDBID=. 13.0155554 366 1 40773123 40773123 G C exonic COL9A2 NA nonsynonymous SNV COL9A2:NM_001852:exon19:c.C1003G:p.L335V exonic ENSG00000049089 NA nonsynonymous SNV ENSG00000049089:ENST00000372748:exon19:c.C1003G:p.L335V Score=431;Name=lod=75 NA 1p34.2 Score=807;Name=V$CDPCR3_01 Name=ELF1_(SC-631),CEBPB NA NA rs2228567 0.08 0.08 0.085 0.0846645 0.0974 0.1052 0.0836 0.0514 0.0961 0.1 0.09 0.07 0.07 0.1077 0.11 0.35 T 0.822 P 0.552 P 0.023 N 0.654 P 0.685 N -3.24 D -0.627 T 0.040 T 0.12 1.725 11.73 3.0 0.829 0.345 8.241 1.724854 1.724854 0.24 0.113256 0.073763 ID=COSM329270;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.217 NA 13.0149774 366 16 30566747 30566747 G A exonic ZNF764 NA nonsynonymous SNV ZNF764:NM_001172679:exon3:c.C992T:p.A331V,ZNF764:NM_033410:exon3:c.C995T:p.A332V exonic ENSG00000169951 NA nonsynonymous SNV ENSG00000169951:ENST00000252797:exon3:c.C995T:p.A332V,ENSG00000169951:ENST00000395091:exon3:c.C992T:p.A331V Score=355;Name=lod=37 NA 16p11.2 Score=915;Name=V$AP2_Q6 NA NA NA rs17850402 0.05 0.05 0.046 0.0477236 0.1034 NA 0.098 0.0068 0.0593 0.09 NA 0.11 0.01 0.118 0.11 0.38 T 1.0 D 0.967 D 0.033 N 1.000 N -0.285 N 2.23 T -1.032 T 0.001 T 0.04 3.402 17.49 2.04 0.410 -2.379 8.222 3.401988 3.401988 0.07 0.098755 0.01721 NA 0.138 NA 13.0131784 366 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$CHOP_01 NA NA NA rs2236225 0.35 0.35 0.304 0.341853 0.4294 0.1984 0.5447 0.1581 0.5041 0.43 0.23 0.53 0.21 0.4354 0.53 0.15 T 0.33 B 0.026 B 0.000 D 0.000 P 1.02 L 1.98 T -0.909 T 0.000 T 0.398 2.668 14.88 4.97 2.941 5.247 5.933 2.667518 2.667518 0.09 0.457442 0.214026 NA 0.428 CLINSIG=other;CLNDBN=Neural_tube_defects\x2c_folate-sensitive\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000014603.1;CLNDSDB=.;CLNDSDBID=. 13.0110914 366 1 207074905 207074905 T C exonic IL24 NA nonsynonymous SNV IL24:NM_001185156:exon5:c.T373C:p.Y125H,IL24:NM_006850:exon5:c.T370C:p.Y124H exonic ENSG00000162892 NA nonsynonymous SNV ENSG00000162892:ENST00000294984:exon5:c.T370C:p.Y124H,ENSG00000162892:ENST00000391929:exon5:c.T373C:p.Y125H Score=300;Name=lod=22 NA 1q32.1 NA NA NA NA rs1150258 0.36 0.36 0.353 0.315695 0.4533 0.2123 0.438 0.2905 0.228 0.45 0.23 0.5 0.3 0.3976 0.5 0.13 T 1.0 D 0.999 D 0.000 D 0.000 P 2.14 M 2.25 T -0.915 T 0.000 T 0.225 2.461 14.19 2.38 0.322 1.076 3.697 2.460607 2.460607 NA 0.471512 0.295733 NA 0.478 NA 13.0109214 367 1 111854895 111854895 G A exonic CHIA NA nonsynonymous SNV CHIA:NM_201653:exon4:c.G139A:p.D47N exonic ENSG00000134216 NA nonsynonymous SNV ENSG00000134216:ENST00000343320:exon3:c.G139A:p.D47N,ENSG00000134216:ENST00000369740:exon4:c.G139A:p.D47N Score=514;Name=lod=164 NA 1p13.2 Score=854;Name=V$COUP_01 NA NA NA rs41282494 0.1 0.1 0.117 0.107827 0.1093 NA 0.0821 0.2103 0.0971 0.12 NA 0.1 0.21 0.107 0.21 0.13 T 0.944 P 0.504 P 0.001 N 0.000 P 1.985 M 3.29 T -0.995 T 0.012 T 0.117 3.557 18.14 3.22 0.662 4.098 9.990 3.556625 3.556625 0.09 0.116425 0.183511 NA 0.094 NA 13.0006084 368 9 140317999 140317999 C G exonic NOXA1 NA nonsynonymous SNV NOXA1:NM_001256067:exon1:c.C18G:p.D6E,NOXA1:NM_001256068:exon1:c.C18G:p.D6E,NOXA1:NM_006647:exon1:c.C18G:p.D6E exonic ENSG00000188747 NA nonsynonymous SNV ENSG00000188747:ENST00000341349:exon1:c.C18G:p.D6E,ENSG00000188747:ENST00000392815:exon1:c.C18G:p.D6E NA NA 9q34.3 Score=774;Name=V$HEN1_01 Name=Pol2-4H8,Pol2,HA-E2F1 NA NA rs112864733 0.07 0.07 0.06 0.0555112 0.1213 0.005 0.049 0.0401 0.0654 0.13 0.01 0.06 0.04 0.1365 0.13 1 T 0.907 P 0.59 P 0.000 D 1.000 P 0.805 L -1.91 D -0.648 T 0.007 T 0.059 2.587 14.61 -2.81 -0.407 -0.046 5.957 2.587081 2.587081 0.48 0.080667 0.033839 ID=COSM1580241;OCCURENCE=1(central_nervous_system) NA NA 12.9948664 368 10 115644040 115644040 G A exonic NHLRC2 NA nonsynonymous SNV NHLRC2:NM_198514:exon5:c.G940A:p.V314I exonic ENSG00000196865 NA nonsynonymous SNV ENSG00000196865:ENST00000369301:exon5:c.G940A:p.V314I Score=407;Name=lod=60 NA 10q25.3 NA NA NA NA rs7913176 0.24 0.24 0.206 0.223442 0.2932 0.3125 0.2291 0.121 0.1943 0.29 0.31 0.2 0.12 0.272 0.31 0.79 T 0.552 P 0.064 B 0.000 D 0.059 P 1.085 L -2.59 D -0.986 T 0.000 T 0.064 2.338 13.78 5.03 2.345 2.574 16.589 2.338147 2.338147 0.43 0.281628 0.155243 ID=COSM427091;OCCURENCE=1(breast) 0.188 NA 12.9865054 369 14 74876355 74876355 G C exonic SYNDIG1L NA nonsynonymous SNV SYNDIG1L:NM_001105579:exon2:c.C93G:p.S31R exonic ENSG00000183379 NA nonsynonymous SNV ENSG00000183379:ENST00000554823:exon1:c.C93G:p.S31R,ENSG00000183379:ENST00000331628:exon2:c.C93G:p.S31R,ENSG00000183379:ENST00000554953:exon2:c.C93G:p.S31R Score=437;Name=lod=80 NA 14q24.3 NA NA NA NA rs61734850 0.13 0.13 0.104 0.104034 0.1203 0.0813 0.1945 0.0983 0.0542 0.13 0.1 0.17 0.12 0.1179 0.17 0.01 D 0.232 B 0.147 B 0.009 N 0.732 P 0.55 N -3.69 D -0.726 T 0.007 T 0.072 1.117 9.554 3.46 2.298 1.104 9.878 1.116787 NA 0.03 0.111071 0.102372 NA 0.167 NA 12.9840624 369 4 17829990 17829990 G C exonic NCAPG NA nonsynonymous SNV NCAPG:NM_022346:exon12:c.G1743C:p.M581I exonic ENSG00000109805 NA nonsynonymous SNV ENSG00000109805:ENST00000510063:exon4:c.G438C:p.M146I,ENSG00000109805:ENST00000251496:exon12:c.G1743C:p.M581I Score=500;Name=lod=143 NA 4p15.31 Score=815;Name=V$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 369 17 73567846 73567846 C T exonic LLGL2 NA nonsynonymous SNV LLGL2:NM_001031803:exon18:c.C2275T:p.P759S,LLGL2:NM_004524:exon18:c.C2275T:p.P759S exonic ENSG00000073350 NA nonsynonymous SNV ENSG00000073350:ENST00000167462:exon18:c.C2275T:p.P759S,ENSG00000073350:ENST00000392550:exon18:c.C2275T:p.P759S,ENSG00000073350:ENST00000577200:exon18:c.C2275T:p.P759S Score=420;Name=lod=68 NA 17q25.1 Score=694;Name=V$P53_01 NA NA NA rs1661715 0.33 0.33 0.348 0.309904 0.2823 0.1508 0.2435 0.5915 0.1687 0.29 0.14 0.24 0.65 0.2769 0.65 0.24 T 0.57 P 0.313 B 0.000 D 0.000 P 1.79 L 3.26 T -1.082 T 0.000 T 0.19 2.04 12.78 4.41 1.245 2.448 10.960 2.039977 2.039977 0.69 0.295719 0.554294 ID=COSM437389,COSM1480007;OCCURENCE=2(breast),1(large_intestine) 0.348 NA 12.9784144 369 19 46141845 46141845 T C exonic EML2 NA nonsynonymous SNV EML2:NM_012155:exon3:c.A97G:p.M33V,EML2:NM_001193268:exon6:c.A700G:p.M234V,EML2:NM_001193269:exon6:c.A538G:p.M180V exonic ENSG00000125746 NA nonsynonymous SNV ENSG00000125746:ENST00000590018:exon1:c.A31G:p.M11V,ENSG00000125746:ENST00000586770:exon2:c.A31G:p.M11V,ENSG00000125746:ENST00000245925:exon3:c.A97G:p.M33V,ENSG00000125746:ENST00000588308:exon3:c.A97G:p.M33V,ENSG00000125746:ENST00000589876:exon3:c.A97G:p.M33V,ENSG00000125746:ENST00000590043:exon3:c.A31G:p.M11V,ENSG00000125746:ENST00000591721:exon3:c.A31G:p.M11V,ENSG00000125746:ENST00000593255:exon3:c.A31G:p.M11V,ENSG00000125746:ENST00000399594:exon6:c.A571G:p.M191V,ENSG00000125746:ENST00000536630:exon6:c.A538G:p.M180V,ENSG00000125746:ENST00000587152:exon6:c.A700G:p.M234V Score=407;Name=lod=60 NA 19q13.32 NA Name=Pol2 Name=85 NA rs12151009 0.08 0.08 0.075 0.0860623 0.1103 0.1032 0.1196 0.0061 0.1278 0.1 0.09 0.12 0.01 0.114 0.13 0.02 D 0.061 B 0.102 B 0.078 N 1.000 P 0.69 N 1.7 T -1.041 T 0.000 T 0.036 2.74 15.12 -4.54 -0.283 1.910 3.801 2.739504 2.739504 0.01 0.132326 0.02769 NA 0.036 NA 12.9767074 370 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 370 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 371 2 174820750 174820750 T C exonic SP3 NA nonsynonymous SNV SP3:NM_001017371:exon2:c.A286G:p.T96A,SP3:NM_001172712:exon4:c.A481G:p.T161A,SP3:NM_003111:exon4:c.A490G:p.T164A exonic ENSG00000172845 NA nonsynonymous SNV ENSG00000172845:ENST00000418194:exon2:c.A286G:p.T96A,ENSG00000172845:ENST00000455789:exon3:c.A331G:p.T111A,ENSG00000172845:ENST00000310015:exon4:c.A490G:p.T164A Score=922;Name=lod=7458 NA 2q31.1 NA Name=MafK_(ab50322),MafK_(SC-477) NA NA rs1047640 0.15 0.15 0.141 0.128794 0.1183 0.3413 0.0922 0.0061 0.1125 0.13 0.35 0.08 0.01 0.1322 0.35 1 T 0.001 B 0.002 B 0.000 D 0.018 P 1.1 L 3.65 T -0.925 T 0.000 T 0.174 1.212 9.922 5.95 2.272 3.075 16.407 1.212478 NA 0.79 0.119651 0.026101 ID=COSM148990;OCCURENCE=1(stomach) 0.051 NA 12.9631824 372 6 24551664 24551664 T C exonic KIAA0319 NA nonsynonymous SNV KIAA0319:NM_001252328:exon16:c.A1271G:p.Y424C,KIAA0319:NM_001168376:exon19:c.A2903G:p.Y968C,KIAA0319:NM_001168375:exon20:c.A3038G:p.Y1013C,KIAA0319:NM_014809:exon20:c.A3038G:p.Y1013C,KIAA0319:NM_001168374:exon21:c.A3011G:p.Y1004C exonic ENSG00000137261 NA nonsynonymous SNV ENSG00000137261:ENST00000430948:exon19:c.A2903G:p.Y968C,ENSG00000137261:ENST00000378214:exon20:c.A3038G:p.Y1013C,ENSG00000137261:ENST00000543707:exon20:c.A3038G:p.Y1013C,ENSG00000137261:ENST00000535378:exon21:c.A3011G:p.Y1004C Score=572;Name=lod=282 NA 6p22.3 Score=936;Name=V$HOXA3_01 Name=MafK_(ab50322),MafK_(SC-477) NA NA rs807534 0.1 0.1 0.097 0.096845 0.1272 0.0764 0.0922 0.0832 0.1084 0.13 0.07 0.11 0.09 0.1201 0.13 0.18 T 1.0 D 0.939 D 0.022 N 0.000 P 1.52 L 3.23 T -1.067 T 0.021 T 0.394 2.686 14.94 0.197 0.216 1.674 10.401 2.686305 2.686305 0.17 0.133605 0.09419 NA 0.152 NA 12.9524284 372 4 95496882 95496882 C T exonic PDLIM5 NA nonsynonymous SNV PDLIM5:NM_001256428:exon4:c.C41T:p.S14F,PDLIM5:NM_006457:exon5:c.C407T:p.S136F exonic ENSG00000163110 NA nonsynonymous SNV ENSG00000163110:ENST00000542407:exon4:c.C41T:p.S14F,ENSG00000163110:ENST00000317968:exon5:c.C407T:p.S136F Score=638;Name=lod=524 NA 4q22.3 Score=758;Name=V$MYOGNF1_01 NA NA NA rs2452600 0.28 0.28 0.273 0.224641 0.3121 0.378 0.2378 0.1051 0.1288 0.31 0.42 0.23 0.09 0.262 0.42 0.05 D 0.93 P 0.38 B 0.014 N 0.000 P 1.39 L 0.58 T -0.928 T 0.000 T 0.318 4.042 20.8 4.39 2.590 2.262 13.598 4.042342 4.042342 0.04 0.310233 0.134816 NA 0.29 NA 12.9490004 372 4 3015553 3015553 G A exonic GRK4 NA nonsynonymous SNV GRK4:NM_001004056:exon7:c.G643A:p.V215I,GRK4:NM_001004057:exon8:c.G739A:p.V247I,GRK4:NM_182982:exon8:c.G739A:p.V247I exonic ENSG00000125388 NA nonsynonymous SNV ENSG00000125388:ENST00000345167:exon7:c.G643A:p.V215I,ENSG00000125388:ENST00000398051:exon7:c.G643A:p.V215I,ENSG00000125388:ENST00000398052:exon8:c.G739A:p.V247I,ENSG00000125388:ENST00000504933:exon8:c.G739A:p.V247I Score=679;Name=lod=766 NA 4p16.3 NA Name=IRF4_(M-17) NA NA rs1140085 0.07 0.07 0.052 0.0433307 0.1541 0.001 0.0576 0.0053 0.0143 0.16 NA 0.07 0.01 0.1005 0.16 0.56 T 0.918 P 0.528 P 0.000 U 0.000 P -0.28 N 2.27 T -0.903 T 0.000 T 0.252 1.925 12.4 4.76 2.199 7.688 16.826 1.925259 1.925259 0.28 0.131512 0.029505 ID=COSM447778;OCCURENCE=1(breast) 0.051 NA 12.9472214 372 1 41485902 41485902 C G exonic SLFNL1 NA nonsynonymous SNV SLFNL1:NM_144990:exon2:c.G431C:p.R144T,SLFNL1:NM_001168247:exon3:c.G431C:p.R144T exonic ENSG00000171790 NA nonsynonymous SNV ENSG00000171790:ENST00000359345:exon1:c.G431C:p.R144T,ENSG00000171790:ENST00000372613:exon1:c.G431C:p.R144T,ENSG00000171790:ENST00000302946:exon2:c.G431C:p.R144T,ENSG00000171790:ENST00000372611:exon3:c.G431C:p.R144T,ENSG00000171790:ENST00000397197:exon3:c.G431C:p.R144T,ENSG00000171790:ENST00000439569:exon3:c.G431C:p.R144T Score=272;Name=lod=17 NA 1p34.2 Score=851;Name=V$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 373 19 57646393 57646393 T A exonic ZIM3 NA stopgain ZIM3:NM_052882:exon5:c.A1312T:p.K438X exonic ENSG00000141946 NA stopgain ENSG00000141946:ENST00000269834:exon5:c.A1312T:p.K438X NA NA 19q13.43 Score=882;Name=V$TATA_01 NA NA NA rs111350153 0.01 0.01 0.005 0.00698882 0.0199 0.001 0.0058 0.0015 0.0082 0.02 NA NA 0.0041 0.0156 0.021 0.19 T . . . . . . 1.000 D . . . . . . . . . 6.39 37 -3.67 -1.122 -1.786 5.017 6.389581 6.389581 0.01 0.021047 0.004993 NA 0.007 NA 12.943453 373 22 44286950 44286950 G A exonic PNPLA5 NA nonsynonymous SNV PNPLA5:NM_138814:exon2:c.C418T:p.L140F exonic ENSG00000100341 NA nonsynonymous SNV ENSG00000100341:ENST00000216177:exon2:c.C418T:p.L140F,ENSG00000100341:ENST00000438734:exon2:c.C418T:p.L140F,ENSG00000100341:ENST00000597664:exon2:c.C418T:p.L140F Score=431;Name=lod=75 NA 22q13.31 NA NA Name=6 NA rs2071883 0.24 0.24 0.214 0.240016 0.1004 0.4851 0.2478 0.1944 0.1871 0.11 0.49 0.2 0.18 0.1918 0.49 0.04 D 0.125 B 0.085 B 0.033 N 0.000 P 2.085 M -1.58 D -1.000 T 0.000 T 0.475 1.683 11.59 -0.542 -0.076 1.909 4.334 1.68258 1.68258 0.04 0.098628 0.168409 NA 0.123 NA 12.9425054 374 11 65408937 65408937 C T exonic SIPA1 NA nonsynonymous SNV SIPA1:NM_006747:exon2:c.C545T:p.S182F,SIPA1:NM_153253:exon2:c.C545T:p.S182F exonic ENSG00000213445 NA nonsynonymous SNV ENSG00000213445:ENST00000394227:exon1:c.C545T:p.S182F,ENSG00000213445:ENST00000394224:exon2:c.C545T:p.S182F,ENSG00000213445:ENST00000527525:exon2:c.C545T:p.S182F,ENSG00000213445:ENST00000534313:exon2:c.C545T:p.S182F NA NA 11q13.1 Score=1000;Name=V$MZF1_01 NA NA NA rs3741378 0.23 0.23 0.235 0.209665 0.1312 0.3522 0.1412 0.3048 0.0634 0.13 0.35 0.14 0.32 0.1494 0.35 0.01 D 0.32 B 0.192 B 0.726 U 1.000 P 1.735 L -1.69 D -1.092 T 0.000 T 0.174 1.758 11.84 2.65 1.071 1.961 12.281 1.758463 1.758463 0 0.131022 0.265227 NA 0.188 NA 12.9217114 374 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 375 12 122353796 122353796 A G exonic PSMD9 NA nonsynonymous SNV PSMD9:NM_001261400:exon3:c.A275G:p.E92G,PSMD9:NM_002813:exon5:c.A590G:p.E197G exonic ENSG00000110801,ENSG00000256950 NA nonsynonymous SNV ENSG00000256950:ENST00000542602:exon3:c.A275G:p.E92G,ENSG00000110801:ENST00000544724:exon3:c.A323G:p.E108G,ENSG00000110801:ENST00000261817:exon5:c.A587G:p.E196G,ENSG00000110801:ENST00000541212:exon5:c.A590G:p.E197G Score=389;Name=lod=51 NA 12q24.31 NA NA Name=53 NA rs14259 0.31 0.31 0.245 0.285343 0.3131 0.4812 0.3602 0.0454 0.3262 0.32 0.5 0.34 0.05 0.3214 0.5 0.16 T 0.601 P 0.312 B 0.000 D 0.000 P 1.49 L 2.24 T -0.904 T 0.000 T 0.2 3.174 16.62 5.31 2.012 2.324 12.676 3.174136 3.174136 0.09 0.284651 0.074217 NA 0.232 NA 12.9141824 375 11 108464209 108464209 T C exonic EXPH5 NA nonsynonymous SNV EXPH5:NM_015065:exon1:c.A55G:p.R19G exonic ENSG00000110723 NA nonsynonymous SNV ENSG00000110723:ENST00000265843:exon1:c.A55G:p.R19G,ENSG00000110723:ENST00000525344:exon2:c.A34G:p.R12G Score=533;Name=lod=195 NA 11q22.3 NA Name=TAF1,Pol2-4H8,HEY1,KAP1,Pol2,HA-E2F1,CTCF,Pol2(b),TBP,CEBPB Name=141 NA rs2640738 0.42 0.42 0.373 0.388179 0.495 0.3839 0.562 0.2012 0.4121 0.49 0.43 0.52 0.23 0.4514 0.52 0.02 D 0.998 D 0.948 D 0.004 N 0.000 P 1.5 L 4.26 T -0.929 T 0.000 T 0.411 3.738 18.98 2.85 0.298 0.817 5.986 3.737521 3.737521 0.01 0.476617 0.252612 ID=COSM147323;OCCURENCE=1(stomach) 0.283 NA 12.9103164 376 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 376 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 376 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 376 1 230895340 230895340 C A exonic CAPN9 NA nonsynonymous SNV CAPN9:NM_006615:exon3:c.C366A:p.S122R,CAPN9:NM_016452:exon3:c.C366A:p.S122R exonic ENSG00000135773 NA nonsynonymous SNV ENSG00000135773:ENST00000271971:exon3:c.C366A:p.S122R,ENSG00000135773:ENST00000354537:exon3:c.C366A:p.S122R Score=428;Name=lod=73 NA 1q42.2 NA NA NA NA rs28359608 0.13 0.13 0.131 0.154752 0.1451 0.0764 0.0648 0.174 0.2832 0.16 0.09 0.07 0.2 0.1536 0.2 0 D 0.8 P 0.549 P 0.043 N 0.000 P 3.45 M -2.48 D -0.858 T 0.003 T 0.106 2.672 14.9 -1.09 -0.026 1.710 4.613 2.672015 2.672015 0 0.13907 0.167499 NA 0.116 NA 12.8955634 377 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 377 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 377 10 126714714 126714714 G C exonic CTBP2 NA nonsynonymous SNV CTBP2:NM_022802:exon1:c.C1615G:p.Q539E exonic ENSG00000175029 NA nonsynonymous SNV ENSG00000175029:ENST00000309035:exon1:c.C1615G:p.Q539E Score=479;Name=lod=118 NA 10q26.13 Score=870;Name=V$E47_01 NA NA NA rs2946994 0.47 0.47 0.454 0.467652 0.4761 0.6607 0.3357 0.3744 0.4796 0.48 0.62 0.34 0.39 0.4852 0.62 0.09 T 0.925 P 0.513 P 0.547 N 0.000 P . . -1.72 D -0.902 T 0.000 T 0.243 3.464 17.74 5.29 2.642 9.729 19.323 3.464348 3.464348 0.1 0.495698 0.384703 ID=COSM1346598;OCCURENCE=1(large_intestine) 0.42 NA 12.8763354 378 1 236717926 236717926 T C exonic HEATR1 NA nonsynonymous SNV HEATR1:NM_018072:exon42:c.A6050G:p.E2017G exonic ENSG00000119285 NA nonsynonymous SNV ENSG00000119285:ENST00000366581:exon41:c.A5807G:p.E1936G,ENSG00000119285:ENST00000366582:exon42:c.A6050G:p.E2017G Score=520;Name=lod=173 NA 1q43 NA NA NA NA rs2275687 0.55 0.55 0.533 0.484824 0.6759 0.4772 0.5086 0.3865 0.4121 0.68 0.49 0.54 0.41 0.6056 0.68 0.23 T 0.996 D 0.873 P 0.000 D 0.000 P 2.26 M -0.29 T -0.855 T 0.000 T 0.298 3.565 18.17 5.65 2.371 7.298 16.040 3.565349 3.565349 0.03 0.682674 0.442805 NA 0.609 NA 12.8691594 378 2 198950240 198950240 G A exonic PLCL1 NA nonsynonymous SNV PLCL1:NM_006226:exon2:c.G1999A:p.V667I exonic ENSG00000115896 NA nonsynonymous SNV ENSG00000115896:ENST00000437704:exon1:c.G1705A:p.V569I,ENSG00000115896:ENST00000428675:exon2:c.G1999A:p.V667I,ENSG00000115896:ENST00000487695:exon2:c.G1777A:p.V593I Score=603;Name=lod=378 NA 2q33.1 NA NA NA NA rs1064213 0.36 0.36 0.344 0.379393 0.5239 0.2133 0.402 0.2421 0.5716 0.53 0.24 0.4 0.22 0.4477 0.53 . . 1.0 D 0.995 D 0.001 N 0.000 P 2.865 M -0.02 T -0.928 T 0.000 T 0.304 3.953 20.2 5.36 2.793 9.643 19.291 3.953478 3.953478 0.01 0.493369 0.297776 NA 0.406 NA 12.8683644 378 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 379 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 380 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$PAX3_01 NA NA NA rs11749126 0.08 0.08 0.087 0.0708866 0.163 0.002 0.1009 0.0083 0.1104 0.16 NA 0.12 0.02 0.1357 0.18 . . 0.058 B 0.022 B 0.000 D 0.000 P 0.985 L 0.19 T -1.088 T 0.000 T 0.289 2.357 13.84 4.29 2.166 4.259 14.489 2.356939 2.356939 0.29 0.18407 0.039946 NA 0.029 NA 12.8505634 380 10 46999484 46999484 G T exonic GPRIN2 NA nonsynonymous SNV GPRIN2:NM_014696:exon3:c.G604T:p.G202W exonic ENSG00000204175 NA nonsynonymous SNV ENSG00000204175:ENST00000374314:exon1:c.G604T:p.G202W,ENSG00000204175:ENST00000374317:exon3:c.G604T:p.G202W NA NA 10q11.22 NA NA NA NA rs11204658 0.47 0.47 0.416 NA NA NA NA NA NA 0.49 0.49 0.49 0.39 0.4828 0.49 0.04 D 0.999 D 0.988 D 0.380 N 1.000 N 1.61 L 3.88 T -0.957 T 0.000 T 0.46 1.634 11.42 5.11 2.564 1.454 14.413 1.633532 1.633532 0.02 NA NA NA 0.333 NA 12.8505334 380 X 106396402 106396402 A G exonic NUP62CL NA nonsynonymous SNV NUP62CL:NM_017681:exon7:c.T530C:p.I177T exonic ENSG00000198088 NA nonsynonymous SNV ENSG00000198088:ENST00000372466:exon7:c.T530C:p.I177T NA NA Xq22.3 Score=828;Name=V$E4BP4_01 Name=p300_(F-4),USF-1,TAL1_(SC-12984) Name=2 NA rs1298577 0.44 0.44 0.46184 NA NA NA NA NA NA 0.2 0.48 0.39 0.82 0.3013 0.82 . . 0.0 B 0.0 B 0.000 N 0.000 P -0.83 N 0.8 T -1.006 T 0.000 T 0.347 -0.672 1.065 -4.01 -2.277 1.926 9.035 -0.671578 NA 0.4 0.182224 0.752542 NA 0.377 NA 12.8498094 380 3 9426224 9426224 G A exonic THUMPD3 NA nonsynonymous SNV THUMPD3:NM_001114092:exon10:c.G1376A:p.R459Q,THUMPD3:NM_015453:exon10:c.G1376A:p.R459Q exonic ENSG00000134077 NA nonsynonymous SNV ENSG00000134077:ENST00000345094:exon10:c.G1376A:p.R459Q,ENSG00000134077:ENST00000452837:exon10:c.G1376A:p.R459Q,ENSG00000134077:ENST00000515662:exon10:c.G1376A:p.R459Q Score=439;Name=lod=81 NA 3p25.3 NA NA Name=63 NA rs1129174 0.13 0.13 0.108 0.104832 0.1879 0.0605 0.2248 0.0401 0.0675 0.19 0.08 0.23 0.05 0.1481 0.23 0.26 T 0.056 B 0.022 B 0.000 D 0.758 P -0.175 N 0.97 T -1.041 T 0.000 T 0.16 2.424 14.07 4.8 1.415 5.388 14.284 2.424325 2.424325 0.2 0.14814 0.065819 ID=COSM1425728;OCCURENCE=1(large_intestine) 0.072 NA 12.8491934 380 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 381 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 382 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$YY1_01 NA NA NA rs34105301 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4995 0.5 0.05 D 0.266 B 0.056 B 0.001 N 1.000 N 2.555 M 1.02 T -1.097 T 0.000 T 0.715 1.507 10.99 5.47 2.087 1.894 11.148 1.50703 1.50703 0.09 NA NA NA 0.42 NA 12.8338334 382 12 48137441 48137441 C T exonic RAPGEF3 NA nonsynonymous SNV RAPGEF3:NM_001098532:exon17:c.G1571A:p.R524Q,RAPGEF3:NM_001098531:exon18:c.G1697A:p.R566Q,RAPGEF3:NM_006105:exon18:c.G1571A:p.R524Q exonic ENSG00000079337 NA nonsynonymous SNV ENSG00000079337:ENST00000171000:exon18:c.G1571A:p.R524Q,ENSG00000079337:ENST00000405493:exon18:c.G1571A:p.R524Q,ENSG00000079337:ENST00000449771:exon18:c.G1697A:p.R566Q,ENSG00000079337:ENST00000549151:exon18:c.G1571A:p.R524Q,ENSG00000079337:ENST00000389212:exon19:c.G1697A:p.R566Q Score=432;Name=lod=76 NA 12q13.11 NA Name=ZNF274 NA NA rs202109036 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0003 0.06 T 0.766 P 0.238 B 0.000 D 1.000 N 0.805 L -0.28 T -0.897 T 0.177 T 0.298 2.022 12.72 3.42 0.313 2.565 15.097 2.021768 2.021768 0.34 0.000349 0 NA NA NA 12.8327844 382 8 23004486 23004486 G A exonic TNFRSF10D NA nonsynonymous SNV TNFRSF10D:NM_003840:exon4:c.C470T:p.T157M exonic ENSG00000173530 NA nonsynonymous SNV ENSG00000173530:ENST00000312584:exon4:c.C470T:p.T157M NA NA 8p21.3 NA NA NA NA rs149074636 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0015 0.0013 0 D 0.828 P 0.058 B 0.861 U 1.000 N 0.55 N -2.81 D -0.544 T 0.422 T 0.163 0.165 4.888 -3.87 -1.398 -1.516 10.621 0.164961 NA 0 0.001279 0.000227 NA NA NA 12.8305544 382 10 1230968 1230968 C T exonic ADARB2 NA nonsynonymous SNV ADARB2:NM_018702:exon9:c.G1876A:p.A626T exonic ENSG00000185736 NA nonsynonymous SNV ENSG00000185736:ENST00000381310:exon2:c.G403A:p.A135T,ENSG00000185736:ENST00000381305:exon3:c.G82A:p.A28T,ENSG00000185736:ENST00000381312:exon9:c.G1876A:p.A626T Score=278;Name=lod=18 NA 10p15.3 Score=893;Name=V$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 382 21 45217936 45217936 C T exonic RRP1 NA nonsynonymous SNV RRP1:NM_003683:exon8:c.C766T:p.R256C exonic ENSG00000160214 NA nonsynonymous SNV ENSG00000160214:ENST00000497547:exon8:c.C766T:p.R256C NA NA 21q22.3 NA NA NA NA rs200937759 NA NA NA 0.00299521 NA NA 0.0014 0.0008 0.0133 NA NA NA NA 0.0027 0.0033 0 D 0.993 D 0.619 P 0.003 N 1.000 N 1.04 L 1.45 T -0.896 T 0.062 T 0.09 1.788 11.94 -7.63 -1.901 -1.304 2.199 1.788307 1.788307 0.04 0.00331 0.00047 NA NA NA 12.8273234 383 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 383 6 130154667 130154667 T C exonic TMEM244 NA nonsynonymous SNV TMEM244:NM_001010876:exon4:c.A257G:p.E86G exonic ENSG00000203756 NA nonsynonymous SNV ENSG00000203756:ENST00000368143:exon4:c.A257G:p.E86G,ENSG00000203756:ENST00000438392:exon5:c.A257G:p.E86G Score=506;Name=lod=152 NA 6q22.33 NA NA Name=3 NA rs9492393 0.33 0.33 0.325 0.374201 0.3161 0.2252 0.2666 0.4924 0.5041 0.32 0.22 0.3 0.49 0.3505 0.49 0.17 T 0.996 D 0.833 P 0.000 D 0.124 P 1.735 L 0.95 T -1.009 T 0.098 T 0.415 3.712 18.85 3.34 0.661 4.306 10.367 3.711909 3.711909 0.03 0.342907 0.450068 NA 0.283 NA 12.8238264 383 12 2968169 2968169 A G exonic FOXM1 NA nonsynonymous SNV FOXM1:NM_001243088:exon8:c.T1882C:p.S628P,FOXM1:NM_001243089:exon8:c.T1879C:p.S627P,FOXM1:NM_202003:exon8:c.T1882C:p.S628P,FOXM1:NM_021953:exon9:c.T1927C:p.S643P,FOXM1:NM_202002:exon10:c.T2041C:p.S681P exonic ENSG00000111206 NA nonsynonymous SNV ENSG00000111206:ENST00000361953:exon8:c.T1882C:p.S628P,ENSG00000111206:ENST00000359843:exon9:c.T1927C:p.S643P,ENSG00000111206:ENST00000342628:exon10:c.T2041C:p.S681P Score=436;Name=lod=79 NA 12p13.33 Score=798;Name=V$ROAZ_01 Name=ZNF263,Pol2 NA NA rs3742076 0.29 0.29 0.279 0.307708 0.164 0.2341 0.2723 0.5817 0.1861 0.15 0.26 0.27 0.56 0.2085 0.56 0.91 T 0.0 B 0.0 B 0.000 N 0.000 P -2.175 N -2.7 D -0.946 T 0.000 T 0.031 -1.502 0.017 3.4 0.579 3.722 9.710 -1.501525 NA 1 0.137907 0.464124 ID=COSM430996;OCCURENCE=2(breast) 0.297 NA 12.8229264 383 8 144620660 144620660 G A exonic ZC3H3 NA nonsynonymous SNV ZC3H3:NM_015117:exon2:c.C877T:p.R293W exonic ENSG00000014164 NA nonsynonymous SNV ENSG00000014164:ENST00000262577:exon2:c.C877T:p.R293W NA NA 8q24.3 Score=943;Name=V$P53_02 NA NA NA rs143014673 0.0018 0.0018 NA 0.00119808 0.003 NA 0.0014 NA 0.002 0.004 NA 0.0028 NA 0.0046 0.0042 0 D 0.999 D 0.791 P 0.082 N 1.000 N 1.995 M 3.68 T -1.100 T 0.029 T 0.466 3.164 16.58 2.29 0.626 0.945 9.165 3.164251 3.164251 0 0.004188 0.000681 NA NA NA 12.8215454 383 16 320583 320583 C T exonic RGS11 NA nonsynonymous SNV RGS11:NM_003834:exon15:c.G1082A:p.R361H,RGS11:NM_183337:exon15:c.G1145A:p.R382H exonic ENSG00000076344 NA nonsynonymous SNV ENSG00000076344:ENST00000359740:exon14:c.G1112A:p.R371H,ENSG00000076344:ENST00000316163:exon15:c.G1082A:p.R361H,ENSG00000076344:ENST00000397770:exon15:c.G1145A:p.R382H NA NA 16p13.3 Score=809;Name=V$TAXCREB_02 NA NA NA rs72765828 0.0032 0.0032 NA 0.00159744 0.008 NA NA NA NA 0.01 NA NA NA 0.0021 0.01 0 D 0.975 D 0.659 P 0.235 N 1.000 N 0.55 N 4.54 T -0.938 T 0.005 T 0.055 2.981 15.94 -2.8 -0.585 -1.027 5.277 2.981064 2.981064 0.01 0.001977 0.000455 NA 0.036 NA 12.8212564 383 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 383 12 4737404 4737404 C T exonic AKAP3 NA nonsynonymous SNV AKAP3:NM_006422:exon4:c.G664A:p.E222K exonic ENSG00000111254 NA nonsynonymous SNV ENSG00000111254:ENST00000228850:exon4:c.G664A:p.E222K,ENSG00000111254:ENST00000545990:exon5:c.G664A:p.E222K Score=300;Name=lod=22 NA 12p13.32 NA NA NA NA rs71579261 0.0018 0.0018 NA 0.000599042 0.003 NA NA NA NA 0.01 NA NA NA 0.0039 0.01 0.04 D 0.611 P 0.272 B 0.002 N 1.000 N 2.08 M 3.12 T -1.103 T 0.021 T 0.48 2.125 13.06 5.26 2.592 0.744 10.301 2.125448 2.125448 0 0.006744 0.001362 NA NA NA 12.8196894 384 11 103158278 103158278 C T exonic DYNC2H1 NA nonsynonymous SNV DYNC2H1:NM_001377:exon75:c.C11039T:p.A3680V,DYNC2H1:NM_001080463:exon76:c.C11060T:p.A3687V exonic ENSG00000187240 NA nonsynonymous SNV ENSG00000187240:ENST00000528670:exon3:c.C218T:p.A73V,ENSG00000187240:ENST00000375735:exon75:c.C11039T:p.A3680V,ENSG00000187240:ENST00000398093:exon76:c.C11060T:p.A3687V Score=557;Name=lod=244 NA 11q22.3 NA NA NA NA rs10895391 0.28 0.28 0.286 0.286342 0.338 0.3016 0.2464 0.1725 0.3998 0.34 0.27 0.28 0.18 0.3329 0.35 0.12 T 0.882 P 0.278 B 0.000 D 0.000 P 1.95 M 2.93 T -0.848 T 0.000 T 0.722 4.207 21.8 5.79 2.746 6.123 19.626 4.207195 4.207195 0.02 0.352111 0.203511 NA 0.275 NA 12.8103224 384 17 73518203 73518203 G C exonic TSEN54 NA nonsynonymous SNV TSEN54:NM_207346:exon8:c.G1041C:p.K347N exonic ENSG00000182173 NA nonsynonymous SNV ENSG00000182173:ENST00000333213:exon8:c.G1041C:p.K347N Score=444;Name=lod=85 NA 17q25.1 NA NA NA NA rs9911502 0.47 0.47 0.453 0.444688 0.6829 0.4425 0.4251 0.1286 0.6431 0.7 0.46 0.45 0.13 0.6414 0.7 0.07 T 0.969 D 0.642 P 0.000 D 0.001 P 1.935 M 0.18 T -0.942 T 0.000 T 0.081 2.164 13.19 4.5 1.299 3.630 13.893 2.164337 2.164337 0.08 0.698716 0.230347 ID=COSM437385;OCCURENCE=1(breast) 0.391 NA 12.8103174 384 9 32550896 32550896 G C exonic TOPORS NA nonsynonymous SNV TOPORS:NM_005802:exon2:c.C74G:p.S25W exonic ENSG00000197579 NA nonsynonymous SNV ENSG00000197579:ENST00000360538:exon2:c.C74G:p.S25W NA NA 9p21.1 NA Name=Pol2,CHD2_(N-1250),HA-E2F1,CTCF,CTCF_(C-20),TAF1,Pol2-4H8,HEY1,YY1_(C-20),ZBTB33,TCF4,Sin3Ak-20,TBP,TR4,Egr-1,BRCA1_(C-1863),CEBPB Name=148 NA rs61758066 0.0046 0.0046 0.003 0.00339457 0.0089 NA 0.0058 0.0023 0.001 0.01 NA 0.0028 0.0041 0.0085 0.022 0.02 D 0.687 P 0.176 B 0.508 N 0.998 N 0 N 2.47 T -1.042 T 0.015 T 0.266 2.787 15.28 3.43 1.369 0.410 9.370 2.786747 2.786747 0.02 0.009229 0.001138 NA 0.014 NA 12.8067044 385 14 55618524 55618524 C G exonic DLGAP5 NA nonsynonymous SNV DLGAP5:NM_001146015:exon17:c.G2257C:p.E753Q,DLGAP5:NM_014750:exon17:c.G2257C:p.E753Q exonic ENSG00000126787 NA nonsynonymous SNV ENSG00000126787:ENST00000247191:exon17:c.G2257C:p.E753Q,ENSG00000126787:ENST00000395425:exon17:c.G2257C:p.E753Q Score=284;Name=lod=19 NA 14q22.3 NA NA Name=15 NA rs35954941 0.01 0.01 0.01 0.0131789 0.0089 NA 0.0086 0.0265 0.0164 0.01 NA 0.01 0.03 0.0101 0.03 0.06 T 0.996 D 0.852 P 0.002 N 0.999 N 0.895 L 1.47 T -0.997 T 0.047 T 0.031 2.02 12.71 2.58 0.564 1.088 10.505 2.019702 2.019702 0 0.010237 0.019982 NA 0.007 NA 12.8040964 385 6 152469188 152469188 C G exonic SYNE1 NA nonsynonymous SNV SYNE1:NM_033071:exon136:c.G24755C:p.G8252A,SYNE1:NM_182961:exon137:c.G24968C:p.G8323A exonic ENSG00000131018 NA nonsynonymous SNV ENSG00000131018:ENST00000354674:exon8:c.G1433C:p.G478A,ENSG00000131018:ENST00000539504:exon8:c.G1433C:p.G478A,ENSG00000131018:ENST00000367257:exon17:c.G2906C:p.G969A,ENSG00000131018:ENST00000367251:exon22:c.G3734C:p.G1245A,ENSG00000131018:ENST00000356820:exon52:c.G8540C:p.G2847A,ENSG00000131018:ENST00000423061:exon136:c.G24755C:p.G8252A,ENSG00000131018:ENST00000265368:exon137:c.G24968C:p.G8323A,ENSG00000131018:ENST00000367255:exon137:c.G24968C:p.G8323A,ENSG00000131018:ENST00000448038:exon137:c.G24755C:p.G8252A,ENSG00000131018:ENST00000341594:exon138:c.G23804C:p.G7935A Score=395;Name=lod=54 NA 6q25.1 NA NA NA NA rs2252755 0.37 0.37 0.353 0.399361 0.333 0.2986 0.5115 0.4576 0.4131 0.31 0.27 0.52 0.44 0.3592 0.52 0.33 T 0.696 P 0.338 B 0.001 D 0.000 P 0.12 N 5.02 T -1.079 T 0.051 T 0.165 -1.031 0.218 5.34 2.516 2.665 19.033 -1.031183 NA 0.83 0.337326 0.444394 NA 0.225 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118468.2;CLNDSDB=.;CLNDSDBID=. 12.8038074 385 12 101761753 101761753 A G exonic UTP20 NA nonsynonymous SNV UTP20:NM_014503:exon48:c.A6383G:p.K2128R exonic ENSG00000120800 NA nonsynonymous SNV ENSG00000120800:ENST00000261637:exon48:c.A6383G:p.K2128R Score=444;Name=lod=85 NA 12q23.2 NA NA NA NA rs117476305 0.01 0.01 0.004 0.00299521 0.0099 NA 0.0043 NA 0.002 0.01 NA 0.01 NA 0.0095 0.011 0.34 T 0.717 P 0.194 B 0.000 D 1.000 D 1.63 L -0.15 T -0.964 T 0.124 T 0.081 2.424 14.07 4.44 0.942 5.758 11.504 2.424265 2.424265 0 0.011512 0.000681 NA 0.022 NA 12.8024214 385 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 385 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$ROAZ_01 NA NA NA rs2230429 0.41 0.41 0.383 0.298722 0.339 0.6766 0.3184 0.1014 0.1207 0.35 0.74 0.36 0.13 0.3313 0.74 0 D 0.996 D 0.727 P . . 0.900 P 1.88 L 1.35 T -1.032 T 0.000 T 0.389 2.682 14.93 4.03 1.952 0.907 13.447 2.681501 2.681501 0.01 0.365465 0.155894 NA 0.312 NA 12.7975684 385 6 80228535 80228535 T G exonic LCA5 NA nonsynonymous SNV LCA5:NM_001122769:exon2:c.A77C:p.D26A,LCA5:NM_181714:exon3:c.A77C:p.D26A exonic ENSG00000135338 NA nonsynonymous SNV ENSG00000135338:ENST00000467898:exon1:c.A77C:p.D26A,ENSG00000135338:ENST00000369846:exon2:c.A77C:p.D26A,ENSG00000135338:ENST00000392959:exon3:c.A77C:p.D26A Score=349;Name=lod=35 NA 6q14.1 NA Name=GATA-1 NA NA rs34068461 0.17 0.17 0.15 0.173123 0.173 0.2192 0.2334 0.0741 0.2168 0.16 0.23 0.23 0.09 0.1835 0.23 0.03 D 0.047 B 0.046 B 0.300 N 0.122 P 1.845 L -0.0 T -0.939 T 0.120 T 0.068 3.32 17.17 4.09 0.986 2.917 10.295 3.320429 3.320429 0 0.181279 0.076714 NA 0.232 NA 12.7955544 386 14 105415745 105415745 C G exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.G6043C:p.A2015P exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.G6043C:p.A2015P NA NA 14q32.33 Score=805;Name=V$ROAZ_01 NA NA NA rs117379881 0.27 0.27 0.198 0.277157 0.5477 0.0813 0.3573 0.0734 0.4192 0.51 0.05 0.34 0.1 0.4482 0.55 0.28 T 0.999 D 0.953 D . . 1.000 P 2.045 M 5.55 T -1.038 T 0.000 T 0.069 1.021 9.172 -5.67 -1.107 -2.139 7.274 1.02144 NA 0.27 0.549889 0.146967 NA 0.13 NA 12.7875444 387 6 31122500 31122500 G A exonic CCHCR1 NA nonsynonymous SNV CCHCR1:NM_001105563:exon4:c.C466T:p.R156W,CCHCR1:NM_001105564:exon4:c.C574T:p.R192W,CCHCR1:NM_019052:exon4:c.C307T:p.R103W exonic ENSG00000204536 NA nonsynonymous SNV ENSG00000204536:ENST00000513222:exon3:c.C229T:p.R77W,ENSG00000204536:ENST00000376266:exon4:c.C307T:p.R103W,ENSG00000204536:ENST00000396263:exon4:c.C307T:p.R103W,ENSG00000204536:ENST00000396268:exon4:c.C574T:p.R192W,ENSG00000204536:ENST00000426967:exon4:c.C601T:p.R201W,ENSG00000204536:ENST00000448141:exon4:c.C199T:p.R67W,ENSG00000204536:ENST00000448162:exon4:c.C307T:p.R103W,ENSG00000204536:ENST00000451521:exon4:c.C466T:p.R156W,ENSG00000204536:ENST00000502557:exon4:c.C307T:p.R103W,ENSG00000204536:ENST00000503420:exon4:c.C199T:p.R67W,ENSG00000204536:ENST00000503934:exon4:c.C307T:p.R103W,ENSG00000204536:ENST00000507751:exon4:c.C307T:p.R103W,ENSG00000204536:ENST00000508683:exon4:c.C199T:p.R67W,ENSG00000204536:ENST00000455279:exon5:c.C307T:p.R103W,ENSG00000204536:ENST00000507829:exon5:c.C307T:p.R103W Score=483;Name=lod=122 NA 6p21.33 NA NA NA NA rs130065 0.12 0.12 0.144 0.119409 0.1918 0.0387 0.0793 0.1241 0.1503 0.2 0.05 0.07 0.13 0.1517 0.2 0.04 D 0.197 B 0.06 B 0.073 N 0.117 P 2.125 M 3.2 T -1.090 T 0.014 T 0.365 3.551 18.11 4.37 2.510 1.439 9.598 3.550954 3.550954 0.04 0.205024 0.136032 NA 0.159 NA 12.7848094 387 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$GATA_C NA NA NA rs17127950 0.19 0.19 0.196 0.186502 0.1829 0.0933 0.1455 0.2844 0.183 0.19 0.13 0.16 0.27 0.1772 0.27 0.01 D 0.019 B 0.033 B 0.006 N 0.921 P 2.42 M 3.42 T -1.014 T 0.000 T 0.037 0.688 7.674 3.53 0.480 3.218 7.826 0.687645 NA 0.01 0.190161 0.245459 NA 0.196 NA 12.7830724 387 19 21606429 21606429 G T exonic ZNF493 NA nonsynonymous SNV ZNF493:NM_175910:exon2:c.G584T:p.C195F,ZNF493:NM_001076678:exon4:c.G968T:p.C323F exonic ENSG00000196268 NA nonsynonymous SNV ENSG00000196268:ENST00000355504:exon2:c.G584T:p.C195F,ENSG00000196268:ENST00000392288:exon4:c.G968T:p.C323F NA NA 19p12 NA Name=ZNF274 NA NA rs4621113 0.59 0.59 0.563 0.58766 0.5 0.6319 0.5476 0.6589 0.5644 0.49 0.66 0.56 0.68 0.536 0.68 0 D 1.0 D 1.0 D . . 0.000 P 3.495 M -1.94 D -0.915 T 0.000 T 0.099 0.336 5.82 0.985 0.399 6.598 8.758 0.335504 NA 0 0.516651 0.626876 NA 0.435 NA 12.7806824 387 16 58713798 58713798 G A exonic SLC38A7 NA nonsynonymous SNV SLC38A7:NM_018231:exon3:c.C233T:p.T78I exonic ENSG00000103042 NA nonsynonymous SNV ENSG00000103042:ENST00000562397:exon2:c.C233T:p.T78I,ENSG00000103042:ENST00000564100:exon2:c.C233T:p.T78I,ENSG00000103042:ENST00000564391:exon2:c.C233T:p.T78I,ENSG00000103042:ENST00000566598:exon2:c.C233T:p.T78I,ENSG00000103042:ENST00000570101:exon2:c.C233T:p.T78I,ENSG00000103042:ENST00000219320:exon3:c.C233T:p.T78I,ENSG00000103042:ENST00000563196:exon3:c.C233T:p.T78I Score=422;Name=lod=69 NA 16q21 Score=891;Name=V$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 388 15 56923895 56923895 C A exonic ZNF280D NA nonsynonymous SNV ZNF280D:NM_001002843:exon21:c.G2702T:p.G901V,ZNF280D:NM_017661:exon22:c.G2741T:p.G914V exonic ENSG00000137871 NA nonsynonymous SNV ENSG00000137871:ENST00000559237:exon21:c.G2702T:p.G901V,ENSG00000137871:ENST00000267807:exon22:c.G2741T:p.G914V Score=606;Name=lod=387 NA 15q21.3 NA NA NA NA rs61741526 0.01 0.01 0.005 0.00698882 0.0239 NA 0.0043 0.0015 0.0061 0.02 NA 0.01 NA 0.0161 0.024 0 D 0.981 D 0.77 P 0.000 N 1.000 D 0.805 L 3.58 T -1.072 T 0.012 T 0.39 2.994 15.98 1.7 0.060 2.215 7.420 2.993983 2.993983 0 0.023649 0.005931 NA 0.007 NA 12.7696844 389 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 389 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 390 17 56386732 56386732 C T exonic BZRAP1 NA nonsynonymous SNV BZRAP1:NM_024418:exon21:c.G3721A:p.D1241N,BZRAP1:NM_001261835:exon22:c.G3901A:p.D1301N,BZRAP1:NM_004758:exon22:c.G3901A:p.D1301N exonic ENSG00000005379 NA nonsynonymous SNV ENSG00000005379:ENST00000268893:exon21:c.G3721A:p.D1241N,ENSG00000005379:ENST00000343736:exon22:c.G3901A:p.D1301N,ENSG00000005379:ENST00000355701:exon22:c.G3901A:p.D1301N Score=259;Name=lod=15 NA 17q22 NA NA NA NA rs61741210 0.01 0.01 0.016 0.0155751 0.0328 NA 0.013 0.0008 0.0358 0.04 NA 0.01 NA 0.0232 0.04 0.53 T 0.943 P 0.341 B 0.001 N 0.981 N 1.845 L -2.26 D -0.494 T 0.227 T 0.028 2.599 14.65 5.59 2.643 2.225 16.328 2.599495 2.599495 0 0.02593 0.005677 NA 0.014 NA 12.7514034 391 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=PAX5-N19,MEF2A,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 391 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 391 5 140168151 140168151 G T exonic PCDHA1 NA nonsynonymous SNV PCDHA1:NM_018900:exon1:c.G2276T:p.C759F,PCDHA1:NM_031410:exon1:c.G2276T:p.C759F exonic ENSG00000204970 NA nonsynonymous SNV ENSG00000204970:ENST00000378133:exon1:c.G2276T:p.C759F,ENSG00000204970:ENST00000504120:exon1:c.G2276T:p.C759F Score=309;Name=lod=24 NA 5q31.3 Score=781;Name=V$PAX5_02 NA NA NA rs2240695 0.53 0.53 0.515 0.524161 0.5368 0.5317 0.5879 0.4758 0.5235 0.53 0.54 0.53 0.51 0.5252 0.54 0.01 D 0.169 B 0.067 B 0.019 U 0.000 P 3.25 M 2.49 T -0.944 T 0.000 T 0.194 1.328 10.36 4.34 2.145 2.645 10.595 1.328001 1.328001 0.02 0.527907 0.492964 NA 0.478 NA 12.7434264 391 5 140181734 140181734 A G exonic PCDHA3 NA nonsynonymous SNV PCDHA3:NM_018906:exon1:c.A952G:p.I318V,PCDHA3:NM_031497:exon1:c.A952G:p.I318V exonic ENSG00000255408 NA nonsynonymous SNV ENSG00000255408:ENST00000522353:exon1:c.A952G:p.I318V,ENSG00000255408:ENST00000532566:exon1:c.A952G:p.I318V Score=352;Name=lod=36 NA 5q31.3 NA Name=MafK_(ab50322) NA NA rs3733708 0.53 0.53 0.525 0.525359 0.5378 0.5317 0.5893 0.4788 0.5235 0.54 0.54 0.54 0.51 0.5249 0.54 0 D 0.517 P 0.651 P 0.001 U 0.000 P 2.235 M 0.66 T -0.848 T 0.000 T 0.067 2.455 14.17 3.54 1.925 -0.509 10.542 2.454859 2.454859 0 0.527907 0.495915 NA 0.5 NA 12.7427264 391 10 47087501 47087501 C T exonic NPY4R NA nonsynonymous SNV NPY4R:NM_005972:exon3:c.C718T:p.R240C exonic ENSG00000204174 NA nonsynonymous SNV ENSG00000204174:ENST00000395716:exon2:c.C718T:p.R240C,ENSG00000204174:ENST00000374312:exon3:c.C718T:p.R240C Score=500;Name=lod=143 NA 10q11.22 NA NA NA NA rs3824733 0.3 0.3 0.231 NA NA NA NA NA NA 0.29 0.47 0.32 0.09 0.3072 0.47 0.19 T 0.068 B 0.089 B 0.000 D 1.000 D 1.61 L 1.15 T -0.834 T 0.000 T 0.16 1.667 11.53 4.21 1.307 4.530 11.575 1.666627 1.666627 0.16 0.284884 0.120064 NA 0.21 NA 12.7412494 391 17 7230845 7230845 G T exonic NEURL4 NA nonsynonymous SNV NEURL4:NM_001005408:exon2:c.C641A:p.P214H,NEURL4:NM_032442:exon2:c.C641A:p.P214H exonic ENSG00000215041 NA nonsynonymous SNV ENSG00000215041:ENST00000315614:exon2:c.C641A:p.P214H,ENSG00000215041:ENST00000399464:exon2:c.C641A:p.P214H,ENSG00000215041:ENST00000570460:exon2:c.C641A:p.P214H Score=478;Name=lod=117 NA 17p13.1 NA NA NA NA rs11655578 0.13 0.13 0.1 0.134784 0.1928 0.1081 0.1902 0.0038 0.2403 0.19 0.12 0.2 0.01 0.1901 0.21 0.11 T 1.0 D 0.996 D 0.005 N 0.033 P 1.15 L 1.43 T -1.147 T 0.000 T 0.373 3.51 17.94 5.49 2.735 3.356 15.22 3.51041 3.51041 0.04 0.212074 0.043077 NA 0.123 NA 12.7383594 392 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 392 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 393 1 21795388 21795388 A G exonic NBPF3 NA nonsynonymous SNV NBPF3:NM_001256416:exon3:c.A341G:p.Y114C,NBPF3:NM_032264:exon3:c.A341G:p.Y114C exonic ENSG00000142794 NA nonsynonymous SNV ENSG00000142794:ENST00000318249:exon3:c.A341G:p.Y114C,ENSG00000142794:ENST00000342104:exon3:c.A341G:p.Y114C,ENSG00000142794:ENST00000318220:exon6:c.A173G:p.Y58C,ENSG00000142794:ENST00000434838:exon7:c.A173G:p.Y58C NA NA 1p36.12 NA Name=CTCF,FOXA2_(SC-6554),Rad21,ELF1_(SC-631),SMC3_(ab9263),CTCF_(C-20),CTCF_(SC-5916) Name=62 NA rs1827293 0.46 0.46 0.439 0.423922 0.5417 0.5804 0.4755 0.1445 0.4826 0.54 0.56 0.52 0.18 0.5182 0.56 0 D 1.0 D 0.998 D . . 1.000 P 2.195 M 3.69 T -0.903 T 0.000 T 0.371 1.323 10.34 -2.16 -0.776 -0.056 1.989 1.323132 1.323132 0 0.553023 0.220154 ID=COSM425331;OCCURENCE=1(breast) 0.399 NA 12.7204104 393 4 49063872 49063872 C A exonic CWH43 NA nonsynonymous SNV CWH43:NM_025087:exon16:c.C2065A:p.H689N exonic ENSG00000109182 NA nonsynonymous SNV ENSG00000109182:ENST00000226432:exon16:c.C2065A:p.H689N,ENSG00000109182:ENST00000513409:exon16:c.C1984A:p.H662N Score=530;Name=lod=190 NA 4p11 Score=820;Name=V$OCT_C NA NA NA rs1051447 0.55 0.55 0.48 0.476637 0.7475 0.3681 0.7536 0.1967 0.4918 0.76 0.4 0.78 0.22 0.6524 0.78 . . 0.961 D 0.691 P 0.004 N 0.084 P 2.045 M 1.55 T -1.000 T 0.000 T 0.177 2.519 14.38 4.59 2.838 3.679 13.203 2.51852 2.51852 0.02 0.713359 0.275767 NA 0.464 NA 12.7200744 393 5 135288632 135288632 A G exonic LECT2 NA nonsynonymous SNV LECT2:NM_002302:exon2:c.T71C:p.I24T exonic ENSG00000145826 NA nonsynonymous SNV ENSG00000145826:ENST00000274507:exon2:c.T71C:p.I24T,ENSG00000145826:ENST00000514447:exon2:c.T71C:p.I24T,ENSG00000145826:ENST00000522943:exon2:c.T71C:p.I24T NA NA 5q31.1 NA Name=CEBPB,HNF4A_(H-171) NA NA rs62623707 0.02 0.02 0.017 0.0131789 0.0437 0.001 0.0187 0.0015 0.0061 0.04 NA 0.02 NA 0.0298 0.044 0 D 0.682 P 0.261 B 0.021 N 1.000 N 1.7 L 3.0 T -1.110 T 0.009 T 0.245 3.66 18.61 5.96 2.284 4.994 12.837 3.660276 3.660276 0.01 0.043721 0.011802 ID=COSM1179695;OCCURENCE=1(prostate) NA NA 12.7161124 394 10 102269206 102269206 A G exonic SEC31B NA nonsynonymous SNV SEC31B:NM_015490:exon4:c.T266C:p.V89A exonic ENSG00000075826 NA nonsynonymous SNV ENSG00000075826:ENST00000469546:exon3:c.T266C:p.V89A,ENSG00000075826:ENST00000370329:exon4:c.T266C:p.V89A,ENSG00000075826:ENST00000370345:exon4:c.T266C:p.V89A,ENSG00000075826:ENST00000451524:exon4:c.T266C:p.V89A,ENSG00000075826:ENST00000462434:exon4:c.T266C:p.V89A Score=547;Name=lod=222 NA 10q24.31 Score=820;Name=V$MEF2_01 NA Name=10 NA rs3763695 0.18 0.18 0.176 0.185304 0.1909 0.1319 0.1844 0.1997 0.2157 0.21 0.16 0.2 0.14 0.2097 0.22 0.83 T 0.0 B 0.002 B 0.000 N 0.000 P -1.42 N 1.83 T -1.000 T 0.000 T 0.069 1.232 9.995 5.36 1.419 5.183 7.501 1.231922 NA 0.22 0.219651 0.194281 NA 0.094 NA 12.7130824 394 21 47704896 47704896 G A exonic MCM3AP NA nonsynonymous SNV MCM3AP:NM_003906:exon1:c.C305T:p.S102L exonic ENSG00000160294 NA nonsynonymous SNV ENSG00000160294:ENST00000291688:exon1:c.C305T:p.S102L,ENSG00000160294:ENST00000397708:exon2:c.C305T:p.S102L Score=284;Name=lod=19 NA 21q22.3 NA Name=PU.1,NFKB NA NA rs9975588 0.26 0.26 0.256 0.248602 0.4085 0.1488 0.232 0.1982 0.2669 0.4 0.13 0.28 0.21 0.3241 0.4 0.02 D 0.844 P 0.313 B 0.007 N 0.561 P 0.895 L 2.16 T -0.909 T 0.000 T 0.137 3.683 18.71 4.59 2.561 4.224 12.426 3.682683 3.682683 0.01 0.391977 0.213345 NA 0.333 NA 12.7087564 395 12 121600253 121600253 T C exonic P2RX7 NA nonsynonymous SNV P2RX7:NM_002562:exon5:c.T463C:p.Y155H exonic ENSG00000089041 NA nonsynonymous SNV ENSG00000089041:ENST00000377162:exon5:c.T463C:p.Y155H,ENSG00000089041:ENST00000535600:exon5:c.T463C:p.Y155H,ENSG00000089041:ENST00000541564:exon5:c.T463C:p.Y155H,ENSG00000089041:ENST00000546057:exon5:c.T463C:p.Y155H,ENSG00000089041:ENST00000535250:exon6:c.T193C:p.Y65H NA NA 12q24.31 NA NA NA NA rs208294 0.54 0.54 0.579 0.529952 0.5557 0.4137 0.3905 0.6944 0.5 0.56 0.41 0.42 0.75 0.5243 0.75 0.12 T 0.997 D 0.949 D 0.000 D 0.000 P 2.545 M 3.65 T -1.111 T 0.000 T 0.602 3.369 17.36 5.58 2.121 6.416 13.689 3.368779 3.368779 0.05 0.553605 0.69133 NA 0.565 NA 12.6997284 395 19 11618630 11618630 G A exonic ECSIT NA nonsynonymous SNV ECSIT:NM_001142465:exon4:c.C190T:p.R64C,ECSIT:NM_016581:exon6:c.C832T:p.R278C exonic ENSG00000130159 NA nonsynonymous SNV ENSG00000130159:ENST00000417981:exon4:c.C190T:p.R64C,ENSG00000130159:ENST00000585318:exon5:c.C484T:p.R162C,ENSG00000130159:ENST00000270517:exon6:c.C832T:p.R278C Score=472;Name=lod=111 NA 19p13.2 Score=810;Name=V$ER_Q6 NA NA NA rs34803265 0.04 0.04 NA 0.023762 0.0835 NA 0.036 0.0023 0.0072 0.09 NA 0.03 0.002 0.0503 0.09 0.08 T 0.999 D 0.736 P 0.015 N 0.000 P 0.97 L 0.89 T -1.034 T 0.007 T 0.335 2.464 14.2 4.83 2.216 0.913 12.602 2.463549 2.463549 0.01 NA NA NA 0.036 NA 12.6995334 395 6 51491884 51491884 T C exonic PKHD1 NA nonsynonymous SNV PKHD1:NM_138694:exon66:c.A11696G:p.Q3899R exonic ENSG00000170927 NA nonsynonymous SNV ENSG00000170927:ENST00000371117:exon66:c.A11696G:p.Q3899R Score=251;Name=lod=14 NA 6p12.3 NA NA NA NA rs4715227 0.54 0.54 0.534 0.553315 0.5358 0.5813 0.5937 0.4569 0.6442 0.55 0.58 0.59 0.45 0.555 0.6 0.02 D 0.295 B 0.134 B 0.469 N 0.000 P 1.845 L -2.3 D -0.438 T 0.392 T 0.065 1.237 10.02 3.99 1.048 1.965 8.238 1.237296 1.237296 0.08 0.545349 0.481162 NA 0.514 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082522.1;CLNDSDB=.;CLNDSDBID=. 12.6971844 396 2 55436934 55436934 G A exonic CLHC1 NA nonsynonymous SNV CLHC1:NM_001135598:exon4:c.C167T:p.A56V,CLHC1:NM_152385:exon6:c.C533T:p.A178V exonic ENSG00000162994 NA nonsynonymous SNV ENSG00000162994:ENST00000406076:exon4:c.C167T:p.A56V,ENSG00000162994:ENST00000407122:exon5:c.C533T:p.A178V,ENSG00000162994:ENST00000401408:exon6:c.C533T:p.A178V Score=278;Name=lod=18 NA 2p16.1 NA NA NA NA rs9677948 0.21 0.21 0.226 0.210264 0.2137 0.0853 0.1715 0.3699 0.1472 0.21 0.08 0.17 0.4 0.2075 0.4 0.24 T 0.953 P 0.556 P 0.052 N 0.000 P 1.935 M 2.15 T -0.912 T 0.000 T 0.062 3.768 19.13 3.33 1.195 2.381 5.118 3.767599 3.767599 0.06 0.219339 0.359737 NA 0.254 NA 12.6927944 396 16 78420775 78420775 G A exonic WWOX NA nonsynonymous SNV WWOX:NM_016373:exon6:c.G535A:p.A179T exonic ENSG00000186153 NA nonsynonymous SNV ENSG00000186153:ENST00000408984:exon6:c.G535A:p.A179T,ENSG00000186153:ENST00000566780:exon6:c.G535A:p.A179T Score=686;Name=lod=818 NA 16q23.1 Score=779;Name=V$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 396 1 55119534 55119534 C T exonic MROH7 NA nonsynonymous SNV MROH7:NM_001039464:exon3:c.C935T:p.S312F exonic ENSG00000184313,ENSG00000271723 NA nonsynonymous SNV ENSG00000184313:ENST00000438846:exon1:c.C935T:p.S312F,ENSG00000184313:ENST00000413188:exon2:c.C935T:p.S312F,ENSG00000184313:ENST00000422659:exon2:c.C935T:p.S312F,ENSG00000184313:ENST00000339553:exon3:c.C935T:p.S312F,ENSG00000184313:ENST00000395690:exon3:c.C935T:p.S312F,ENSG00000271723:ENST00000414150:exon3:c.C935T:p.S312F,ENSG00000184313:ENST00000421030:exon3:c.C935T:p.S312F,ENSG00000271723:ENST00000425300:exon3:c.C935T:p.S312F,ENSG00000184313:ENST00000440047:exon3:c.C935T:p.S312F,ENSG00000271723:ENST00000606515:exon3:c.C935T:p.S312F NA NA 1p32.3 NA NA NA NA rs17399810 0.12 0.12 0.13 0.102835 0.2237 0.002 0.1369 0.0855 0.0818 0.23 0.0017 0.17 0.08 0.1782 0.24 0.03 D 1.0 D 0.994 D 0.520 N 0.014 P 0.895 L 3.47 T -0.920 T 0.000 T 0.151 2.752 15.16 3.89 2.471 1.680 11.667 2.751855 2.751855 0 0.238906 0.113552 NA 0.138 NA 12.6925274 396 6 46620252 46620252 C G exonic CYP39A1 NA nonsynonymous SNV CYP39A1:NM_016593:exon1:c.G68C:p.R23P exonic ENSG00000146233 NA nonsynonymous SNV ENSG00000146233:ENST00000275016:exon1:c.G68C:p.R23P NA NA 6p12.3 Score=821;Name=V$OCT1_04 Name=Pol2(b) NA NA rs12192544 0.14 0.14 0.127 0.142772 0.2087 0.1319 0.1441 0.0182 0.2536 0.21 0.12 0.17 0.03 0.2025 0.23 0.34 T 0.961 D 0.41 B 0.936 N 1.000 P 1.995 M -1.01 T -0.885 T 0.244 T 0.203 3.088 16.31 3.36 1.345 0.391 9.704 3.087548 3.087548 0.14 0.230233 0.051975 NA 0.181 NA 12.6919004 396 7 44530193 44530193 T G exonic NUDCD3 NA nonsynonymous SNV NUDCD3:NM_015332:exon1:c.A7C:p.T3P exonic ENSG00000015676 NA nonsynonymous SNV ENSG00000015676:ENST00000355451:exon1:c.A7C:p.T3P Score=395;Name=lod=54 NA 7p13 NA Name=GTF2F1_(RAP-74),TBP,CCNT2,Pol2(b),ELK4,NANOG_(SC-33759),YY1,Sin3Ak-20,THAP1_(SC-98174),NRSF,Mxi1_(bHLH),YY1_(C-20),TCF4,Max,SRF,c-Myc,ETS1,ELF1_(SC-631),HEY1,KAP1,BCLAF1_(M33-P5B11),TAF1,HMGN3,GABP,Pol2-4H8,TAF7_(SQ-8),CTCF,E2F6_(H-50),E2F6,USF-1,Pol2(phosphoS2),Pol2,HA-E2F1,USF1_(SC-8983) Name=148 NA rs307007 0.16 0.16 0.158 0.164137 0.1928 0.005 0.1427 0.3041 0.1247 0.18 0.01 0.17 0.31 0.234 0.31 0.84 T 0.0 B 0.0 B 0.001 N 1.000 P -0.69 N 0.59 T -1.010 T 0.000 T 0.047 -1.214 0.066 4.44 1.208 1.408 7.881 -1.213676 NA 1 0.215519 0.281697 NA 0.159 NA 12.6910144 396 4 6303354 6303354 G A exonic WFS1 NA nonsynonymous SNV WFS1:NM_001145853:exon8:c.G1832A:p.R611H,WFS1:NM_006005:exon8:c.G1832A:p.R611H exonic ENSG00000109501 NA nonsynonymous SNV ENSG00000109501:ENST00000226760:exon8:c.G1832A:p.R611H,ENSG00000109501:ENST00000503569:exon8:c.G1832A:p.R611H Score=378;Name=lod=46 NA 4p16.1 NA NA NA NA rs734312 0.52 0.52 0.5 0.469249 0.5626 0.8105 0.5476 0.0318 0.5573 0.56 0.84 0.56 0.06 0.5367 0.84 0.1 T 0.146 B 0.04 B 0.000 N 0.001 P 2.52 M -3.25 D -0.912 T 0.000 T 0.38 0.681 7.64 4.57 1.295 4.704 13.257 0.68075 NA 0.02 0.54686 0.116886 ID=COSM149634;OCCURENCE=1(stomach) 0.406 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000038646.4;CLNDSDB=.;CLNDSDBID=. 12.6871734 396 14 94935901 94935901 G C exonic SERPINA9 NA nonsynonymous SNV SERPINA9:NM_175739:exon2:c.C331G:p.Q111E exonic ENSG00000170054 NA nonsynonymous SNV ENSG00000170054:ENST00000337425:exon2:c.C331G:p.Q111E,ENSG00000170054:ENST00000380365:exon2:c.C277G:p.Q93E,ENSG00000170054:ENST00000448305:exon2:c.C37G:p.Q13E,ENSG00000170054:ENST00000538527:exon2:c.C413G:p.P138R,ENSG00000170054:ENST00000546329:exon2:c.C223G:p.Q75E Score=343;Name=lod=33 NA 14q32.13 NA NA NA NA rs12879019 0.2 0.2 0.205 0.178315 0.2356 0.3472 0.1787 0.0106 0.1718 0.23 0.34 0.2 0.01 0.2073 0.34 1 T 0.907 P 0.73 P 0.001 U 0.000 P 1.695 L -2.37 D -0.866 T 0.000 T 0.357 1.441 10.76 4.12 2.014 4.681 13.386 1.441231 1.441231 0.18 0.204524 0.043091 NA 0.123 NA 12.6859094 397 6 51483961 51483961 T C exonic PKHD1 NA nonsynonymous SNV PKHD1:NM_138694:exon67:c.A12143G:p.Q4048R exonic ENSG00000170927 NA nonsynonymous SNV ENSG00000170927:ENST00000371117:exon67:c.A12143G:p.Q4048R Score=313;Name=lod=25 NA 6p12.3 NA NA Name=5 NA rs9381994 0.56 0.56 0.548 0.565695 0.5487 0.6131 0.6023 0.4546 0.6585 0.56 0.62 0.59 0.45 0.563 0.62 0.35 T 0.031 B 0.024 B 0.000 D 0.000 P 0.95 L -2.08 D -0.833 T 0.249 T 0.13 1.458 10.82 3.95 2.128 0.430 5.389 1.457689 1.457689 0.26 0.548721 0.481162 ID=COSM1445058;OCCURENCE=1(large_intestine) 0.514 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082526.1;CLNDSDB=.;CLNDSDBID=. 12.6729124 397 22 40283427 40283427 A G exonic ENTHD1 NA nonsynonymous SNV ENTHD1:NM_152512:exon2:c.T326C:p.I109T exonic ENSG00000176177 NA nonsynonymous SNV ENSG00000176177:ENST00000325157:exon2:c.T326C:p.I109T Score=624;Name=lod=457 NA 22q13.1 NA NA NA NA rs17319801 0.04 0.04 0.022 0.0471246 0.0646 0.001 0.1124 0.003 0.09 0.06 NA 0.1 0.002 0.0476 0.1 0.03 D 0.532 P 0.281 B 0.049 N 0.329 P 1.6 L 0.84 T -0.968 T 0.005 T 0.188 2.741 15.12 5.41 2.171 5.181 11.694 2.740547 2.740547 0.03 0.048372 0.013618 NA 0.094 NA 12.6727614 397 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 397 16 1962132 1962132 G A exonic HS3ST6 NA nonsynonymous SNV HS3ST6:NM_001009606:exon2:c.C395T:p.A132V exonic ENSG00000162040 NA nonsynonymous SNV ENSG00000162040:ENST00000293937:exon2:c.C488T:p.A163V,ENSG00000162040:ENST00000443547:exon2:c.C395T:p.A132V,ENSG00000162040:ENST00000454677:exon2:c.C539T:p.A180V Score=393;Name=lod=53 NA 16p13.3 Score=847;Name=V$E2F_03 NA NA NA rs8055325 0.44 0.44 0.44 0.47504 0.3867 0.498 0.3501 0.4418 0.6759 0.39 0.53 0.35 0.47 0.4302 0.53 0.6 T 0.712 P 0.446 B 0.000 D 0.000 P 0.64 N 0.41 T -0.958 T 0.000 T 0.113 2.5 14.32 3.87 1.035 4.707 11.930 2.499876 2.499876 0.44 0.345903 0.387774 NA 0.449 NA 12.6705304 397 1 62959955 62959955 T A exonic DOCK7 NA synonymous SNV DOCK7:NM_001272000:exon39:c.A5088T:p.V1696V,DOCK7:NM_001272001:exon39:c.A5088T:p.V1696V,DOCK7:NM_033407:exon39:c.A5115T:p.V1705V,DOCK7:NM_001271999:exon40:c.A5181T:p.V1727V exonic ENSG00000116641 NA synonymous SNV ENSG00000116641:ENST00000340370:exon39:c.A5115T:p.V1705V,ENSG00000116641:ENST00000251157:exon40:c.A5181T:p.V1727V Score=450;Name=lod=90 NA 1p31.3 NA NA NA Score=136;Name=74322_0_-_136 rs144604663 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 0.0006 . . . . . . . . 1.000 D . . . . -0.885 T 0.150 T . 0.052 4.286 -5.81 -1.013 -3.767 7.811 0.052201 NA NA 0.000581 0 NA NA NA 12.6657856 397 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 398 5 172750235 172750235 A G exonic STC2 NA synonymous SNV STC2:NM_003714:exon3:c.T493C:p.L165L exonic ENSG00000113739 NA synonymous SNV ENSG00000113739:ENST00000265087:exon3:c.T493C:p.L165L Score=432;Name=lod=76 NA 5q35.1 NA NA NA NA rs147265120 0.0018 0.0018 NA 0.000998403 0.005 NA NA NA NA 0.01 NA NA NA 0.0046 0.01 . . . . . . 0.000 D 1.000 D . . . . -0.517 T 0.193 T . 1.245 10.05 -8.01 -1.585 1.398 17.359 1.244957 1.244957 NA 0.005 0.000908 NA NA NA 12.6520666 398 6 6152137 6152137 C G exonic F13A1 NA nonsynonymous SNV F13A1:NM_000129:exon14:c.G1954C:p.E652Q exonic ENSG00000124491 NA nonsynonymous SNV ENSG00000124491:ENST00000264870:exon14:c.G1954C:p.E652Q Score=454;Name=lod=93 NA 6p25.1 Score=756;Name=V$PAX6_01 NA NA NA rs5988 0.19 0.19 0.174 0.19389 0.2406 0.0923 0.2046 0.2292 0.1953 0.22 0.1 0.25 0.19 0.2087 0.25 0.49 T . . . . 0.000 D 0.000 P . . -0.35 T -0.892 T 0.153 T 0.137 2.955 15.85 4.5 1.484 4.372 13.337 2.954677 2.954677 0.07 0.232907 0.199955 NA 0.246 NA 12.6511264 398 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 398 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 399 10 50824117 50824117 G A exonic CHAT NA nonsynonymous SNV CHAT:NM_001142933:exon2:c.G19A:p.D7N exonic ENSG00000070748 NA nonsynonymous SNV ENSG00000070748:ENST00000395562:exon2:c.G19A:p.D7N,ENSG00000070748:ENST00000466590:exon2:c.G335A:p.R112K NA NA 10q11.23 NA NA Name=4 NA rs1880676 0.15 0.15 0.136 0.161542 0.2316 0.1716 0.1686 0.0061 0.2843 0.22 0.16 0.21 0.01 0.2112 0.25 0 D . . . . . . 0.886 P . . -1.94 D -1.149 T 0.000 T 0.047 2.197 13.3 3.16 2.090 1.413 10.069 2.197365 2.197365 0 0.247767 0.050064 ID=COSM1582999;OCCURENCE=1(meninges) 0.188 NA 12.6427664 399 8 68536470 68536470 A G exonic CPA6 NA nonsynonymous SNV CPA6:NM_020361:exon2:c.T133C:p.F45L exonic ENSG00000165078 NA nonsynonymous SNV ENSG00000165078:ENST00000297770:exon2:c.T133C:p.F45L,ENSG00000165078:ENST00000479862:exon2:c.T133C:p.F45L,ENSG00000165078:ENST00000518549:exon2:c.T133C:p.F45L Score=441;Name=lod=83 NA 8q13.2 Score=898;Name=V$GATA_C NA NA NA rs10957393 0.22 0.22 0.219 0.232228 0.2227 0.0923 0.2421 0.3449 0.227 0.22 0.11 0.23 0.34 0.236 0.34 0.28 T 0.0 B 0.0 B 0.012 N 0.000 P -0.69 N 1.29 T -0.962 T 0.000 T 0.033 1.988 12.6 4.54 1.398 2.986 9.706 1.987604 1.987604 0.39 0.23552 0.319709 ID=COSM1179840;OCCURENCE=1(prostate) 0.261 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116825.2;CLNDSDB=.;CLNDSDBID=. 12.6391134 399 14 50788213 50788213 C T exonic ATP5S NA nonsynonymous SNV ATP5S:NM_001003803:exon2:c.C53T:p.P18L,ATP5S:NM_001003805:exon2:c.C53T:p.P18L,ATP5S:NM_015684:exon2:c.C53T:p.P18L exonic ENSG00000125375 NA nonsynonymous SNV ENSG00000125375:ENST00000245448:exon2:c.C53T:p.P18L,ENSG00000125375:ENST00000311459:exon2:c.C53T:p.P18L,ENSG00000125375:ENST00000426751:exon2:c.C53T:p.P18L Score=458;Name=lod=97 NA 14q21.3 Score=897;Name=V$CEBP_01 Name=eGFP-FOS,CEBPB,JunD,p300_(N-15),BATF,STAT3,eGFP-JunD,NFKB,c-Jun,GATA-1,KAP1,GATA-2,USF1_(SC-8983),USF-1,USF2,Pol2 Name=148 NA rs2275592 0.57 0.57 0.598 0.56889 0.5606 0.6171 0.5821 0.556 0.5358 0.56 0.6 0.56 0.54 0.57 0.6 1 T 0.0 B 0.0 B . . 0.000 P -2.05 N 1.79 T -0.927 T 0.000 T 0.034 0.318 5.722 5.56 1.049 2.614 10.313 0.317754 NA 1 0.564767 0.547889 ID=COSM147776;OCCURENCE=1(stomach) 0.449 NA 12.6379664 399 9 2718588 2718588 G A exonic KCNV2 NA synonymous SNV KCNV2:NM_133497:exon1:c.G849A:p.E283E exonic ENSG00000168263 NA synonymous SNV ENSG00000168263:ENST00000382082:exon1:c.G849A:p.E283E Score=516;Name=lod=167 NA 9p24.2 Score=711;Name=V$NRSF_01 NA NA NA rs17656693 0.0037 0.0037 NA 0.00299521 0.0109 NA 0.0043 NA 0.001 0.01 NA 0.01 NA 0.008 0.011 0.54 T . . . . . . 1.000 D . . . . -0.963 T 0.138 T . -0.351 2.34 4.16 1.135 4.030 13.484 -0.351393 NA 0.06 0.010487 0.000455 NA NA NA 12.6372796 399 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$PAX4_04 NA NA NA rs331510 0.2 0.2 0.173 0.220647 0.2416 0.2282 0.1441 0.115 0.3885 0.22 0.25 0.19 0.11 0.2259 0.25 0.01 D 0.067 B 0.034 B 0.001 D 1.000 P 2.57 M 8.9 T -0.990 T 0.000 T 0.177 0.284 5.539 2.18 0.661 -2.560 7.901 0.284441 NA 0.01 0.229874 0.130622 NA 0.138 NA 12.6359594 400 10 100189568 100189568 C A exonic HPS1 NA nonsynonymous SNV HPS1:NM_000195:exon9:c.G847T:p.G283W,HPS1:NM_182639:exon9:c.G847T:p.G283W exonic ENSG00000107521 NA nonsynonymous SNV ENSG00000107521:ENST00000325103:exon9:c.G847T:p.G283W,ENSG00000107521:ENST00000338546:exon9:c.G847T:p.G283W,ENSG00000107521:ENST00000361490:exon9:c.G847T:p.G283W NA NA 10q24.2 NA NA NA NA rs11592273 0.04 0.04 0.034 0.0255591 0.0726 NA 0.0331 0.0144 0.0133 0.08 NA 0.04 0.01 0.0513 0.08 0.07 T 0.99 D 0.795 P 0.002 N 1.000 N 0.69 N 1.54 T -0.984 T 0.008 T 0.125 1.819 12.04 -5.53 -1.507 -1.787 7.277 1.818877 1.818877 0.04 0.075814 0.030186 NA 0.022 CLINSIG=non-pathogenic;CLNDBN=Hermansky-Pudlak_syndrome_1;CLNREVSTAT=single;CLNACC=RCV000020198.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=NBK1287:C2931875:203300:ORPHA231500:ORPHA79430 12.6336194 400 13 21205192 21205192 G A exonic IFT88 NA nonsynonymous SNV IFT88:NM_006531:exon16:c.G1337A:p.S446N,IFT88:NM_175605:exon18:c.G1364A:p.S455N exonic ENSG00000032742 NA nonsynonymous SNV ENSG00000032742:ENST00000537103:exon15:c.G1280A:p.S427N,ENSG00000032742:ENST00000351808:exon16:c.G1337A:p.S446N,ENSG00000032742:ENST00000382778:exon17:c.G1364A:p.S455N,ENSG00000032742:ENST00000319980:exon18:c.G1364A:p.S455N Score=617;Name=lod=430 NA 13q12.11 Score=799;Name=V$FREAC4_01 NA NA NA rs9509307 0.75 0.75 0.726 0.764776 0.7217 0.994 0.7767 0.5151 0.9018 0.73 1 0.74 0.51 0.76 1 0.25 T 0.546 P 0.259 B 0.000 D 0.000 P 2.475 M 0.57 T -1.041 T 0.000 T 0.297 3.065 16.23 4.56 1.248 6.275 16.098 3.065141 3.065141 0.05 0.721163 0.535406 NA 0.71 NA 12.6304704 400 1 172410967 172410967 G A exonic PIGC NA nonsynonymous SNV PIGC:NM_002642:exon2:c.C796T:p.P266S,PIGC:NM_153747:exon2:c.C796T:p.P266S exonic ENSG00000135845 NA nonsynonymous SNV ENSG00000135845:ENST00000367728:exon1:c.C796T:p.P266S,ENSG00000135845:ENST00000258324:exon2:c.C796T:p.P266S,ENSG00000135845:ENST00000344529:exon2:c.C796T:p.P266S Score=630;Name=lod=485 NA 1q24.3 NA NA NA NA rs1063412 0.5 0.5 0.478 0.454273 0.5994 0.6597 0.536 0.0605 0.5675 0.61 0.66 0.57 0.1 0.5482 0.66 0.13 T 1.0 D 1.0 D 0.000 D 0.000 P 1.515 L 0.36 T -0.772 T 0.179 T 0.297 4.084 21 4.24 1.157 9.034 12.321 4.083615 4.083615 0 0.557326 0.150931 NA 0.471 NA 12.6284074 400 10 50824619 50824619 G A exonic CHAT NA nonsynonymous SNV CHAT:NM_001142929:exon2:c.G4A:p.A2T,CHAT:NM_020549:exon2:c.G358A:p.A120T,CHAT:NM_020984:exon2:c.G4A:p.A2T,CHAT:NM_020986:exon2:c.G4A:p.A2T,CHAT:NM_001142933:exon3:c.G112A:p.A38T,CHAT:NM_001142934:exon3:c.G4A:p.A2T,CHAT:NM_020985:exon3:c.G4A:p.A2T exonic ENSG00000070748 NA nonsynonymous SNV ENSG00000070748:ENST00000337653:exon2:c.G358A:p.A120T,ENSG00000070748:ENST00000339797:exon2:c.G4A:p.A2T,ENSG00000070748:ENST00000395559:exon2:c.G4A:p.A2T,ENSG00000070748:ENST00000455728:exon2:c.G4A:p.A2T,ENSG00000070748:ENST00000351556:exon3:c.G4A:p.A2T,ENSG00000070748:ENST00000395562:exon3:c.G112A:p.A38T NA NA 10q11.23 NA Name=CTCF NA NA rs3810950 0.15 0.15 0.144 0.160543 0.2316 0.1696 0.1671 0.0053 0.2832 0.22 0.15 0.21 0.01 0.2269 0.25 0.5 T 0.13 B 0.109 B 0.327 N 1.000 P 0 N -1.9 D -1.089 T 0.000 T 0.155 0.369 6.004 3.03 1.229 2.188 5.388 0.369097 NA 0.22 0.249302 0.051748 NA 0.188 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116697.1;CLNDSDB=.;CLNDSDBID=. 12.6255314 401 15 75130093 75130093 T C exonic ULK3 NA nonsynonymous SNV ULK3:NM_001099436:exon14:c.A1334G:p.K445R exonic ENSG00000140474 NA nonsynonymous SNV ENSG00000140474:ENST00000440863:exon14:c.A1334G:p.K445R,ENSG00000140474:ENST00000568667:exon14:c.A1367G:p.K456R Score=535;Name=lod=200 NA 15q24.1 NA Name=CTCF_(C-20),CTCF NA NA rs12898397 0.4 0.4 0.367 0.38738 0.5795 0.3403 0.5432 0.0915 0.5276 0.58 0.35 0.54 0.1 0.539 0.59 0.31 T 0.997 D 0.985 D . . 0.000 P 1.79 L 1.51 T -0.894 T 0.000 T 0.3 2.939 15.8 5.23 1.978 5.637 12.501 2.939286 2.939286 0.17 0.592218 0.16897 NA 0.464 NA 12.6226154 401 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 401 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$MYOD_01 NA NA NA rs33912345 0.39 0.39 0.354 0.341454 0.5974 0.2133 0.6599 0.0318 0.4029 0.61 0.24 0.6 0.04 0.5153 0.61 0.1 T 0.0 B 0.002 B 0.000 D 0.000 P -1.37 N -3.86 D -0.959 T 0.000 T 0.091 0.917 8.731 5.38 2.804 3.798 14.842 0.916682 NA 0.59 0.599093 0.116659 NA 0.42 NA 12.6215404 401 1 12389953 12389953 T C exonic VPS13D NA synonymous SNV VPS13D:NM_015378:exon37:c.T8265C:p.D2755D,VPS13D:NM_018156:exon37:c.T8265C:p.D2755D exonic ENSG00000048707 NA synonymous SNV ENSG00000048707:ENST00000356315:exon37:c.T8265C:p.D2755D,ENSG00000048707:ENST00000358136:exon37:c.T8265C:p.D2755D Score=560;Name=lod=251 NA 1p36.22 Score=684;Name=V$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 401 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 402 5 1467004 1467004 A G exonic LPCAT1 NA nonsynonymous SNV LPCAT1:NM_024830:exon13:c.T1280C:p.M427T exonic ENSG00000153395 NA nonsynonymous SNV ENSG00000153395:ENST00000283415:exon13:c.T1280C:p.M427T,ENSG00000153395:ENST00000475622:exon13:c.T1280C:p.M427T Score=397;Name=lod=55 NA 5p15.33 NA NA NA NA rs35452723 0.17 0.17 0.136 0.165535 0.2326 0.1319 0.2233 0.0393 0.2607 0.24 0.13 0.21 0.05 0.2355 0.26 0.11 T 0.063 B 0.028 B 0.000 D 0.000 P 2.48 M -0.27 T -1.068 T 0.000 T 0.822 2.299 13.64 4.47 1.793 5.569 12.033 2.298881 2.298881 0 0.258605 0.082161 NA 0.123 NA 12.6066284 403 1 159410340 159410340 T A exonic OR10J1 NA stopgain OR10J1:NM_012351:exon1:c.T792A:p.C264X exonic ENSG00000196184 NA stopgain ENSG00000196184:ENST00000423932:exon1:c.T792A:p.C264X Score=425;Name=lod=71 NA 1q23.2 NA NA NA NA rs12409540 0.08 0.08 0.065 0.0844649 0.1322 0.0278 0.1571 0.0265 0.1207 0.13 0.02 0.15 0.02 0.1235 0.15 1 T . . . . 0.000 D 0.000 P . . . . . . . . . 1.36 10.47 -3.64 -1.023 -4.237 7.016 1.36021 1.36021 NA 0.141163 0.040626 NA 0.087 NA 12.603137 403 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$NKX25_02 NA NA NA rs11205 0.41 0.41 0.384 0.40016 0.4125 0.4177 0.4683 0.4092 0.3088 0.44 0.37 0.45 0.37 0.411 0.45 0.17 T 0.791 P 0.332 B 0.000 D 0.000 P 0.885 L -1.4 T -0.983 T 0.000 T 0.329 2.588 14.61 5.39 2.050 3.836 14.383 2.58774 2.58774 0.08 0.40907 0.395322 ID=COSM1130959;OCCURENCE=1(prostate) 0.333 NA 12.6007634 403 1 40773149 40773149 T C exonic COL9A2 NA nonsynonymous SNV COL9A2:NM_001852:exon19:c.A977G:p.Q326R exonic ENSG00000049089 NA nonsynonymous SNV ENSG00000049089:ENST00000372748:exon19:c.A977G:p.Q326R Score=431;Name=lod=75 NA 1p34.2 Score=883;Name=V$ELK1_02 Name=CEBPB,ELF1_(SC-631) NA NA rs2228564 0.38 0.38 0.349 0.397364 0.2157 0.6171 0.4121 0.4183 0.319 0.22 0.6 0.35 0.42 0.3033 0.6 0.58 T 0.0 B 0.0 B 0.002 N 1.000 P -0.73 N -3.36 D -0.934 T 0.000 T 0.044 0.821 8.307 5.02 0.862 1.246 9.449 0.821154 NA 0.7 0.213953 0.403314 NA 0.268 NA 12.6003804 403 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 404 1 25570081 25570081 T C exonic C1orf63 NA nonsynonymous SNV C1orf63:NM_020317:exon4:c.A716G:p.E239G exonic ENSG00000117616 NA nonsynonymous SNV ENSG00000117616:ENST00000243189:exon4:c.A716G:p.E239G,ENSG00000117616:ENST00000417642:exon5:c.A719G:p.E240G NA Name=Erythrocyte sedimentation rate 1p36.11 NA NA Name=2 NA rs1043879 0.14 0.14 0.114 0.107827 0.2724 0.0327 0.2089 0.0129 0.0726 0.29 0.02 0.21 0.02 0.1996 0.29 0.04 D 0.087 B 0.063 B 0.290 N 0.000 P 1.59 L 1.41 T -1.036 T 0.000 T 0.198 0.936 8.815 3.97 0.969 1.995 8.521 0.936144 NA NA 0.26814 0.05379 NA 0.145 NA 12.5931934 404 11 55563900 55563900 T C exonic OR5D14 NA nonsynonymous SNV OR5D14:NM_001004735:exon1:c.T869C:p.L290P exonic ENSG00000186113 NA nonsynonymous SNV ENSG00000186113:ENST00000335605:exon1:c.T869C:p.L290P NA NA 11q11 NA NA NA NA rs297055 0.24 0.24 0.214 0.216853 0.2525 0.1458 0.1844 0.326 0.1288 0.26 0.15 0.18 0.35 0.2322 0.35 0 D 0.925 P 0.491 P 0.003 N 0.998 P 3.11 M 0.87 T -1.022 T 0.000 T 0.499 2.421 14.05 5.08 1.916 3.008 13.709 2.420915 2.420915 0.01 0.256518 0.321364 ID=COSM147204;OCCURENCE=1(stomach) 0.21 NA 12.5921154 404 9 123291036 123291036 C G exonic CDK5RAP2 NA nonsynonymous SNV CDK5RAP2:NM_001011649:exon9:c.G865C:p.E289Q,CDK5RAP2:NM_001272039:exon9:c.G865C:p.E289Q,CDK5RAP2:NM_018249:exon9:c.G865C:p.E289Q exonic ENSG00000136861 NA nonsynonymous SNV ENSG00000136861:ENST00000482047:exon3:c.G127C:p.E43Q,ENSG00000136861:ENST00000349780:exon9:c.G865C:p.E289Q,ENSG00000136861:ENST00000359309:exon9:c.G865C:p.E289Q,ENSG00000136861:ENST00000360190:exon9:c.G865C:p.E289Q,ENSG00000136861:ENST00000360822:exon9:c.G865C:p.E289Q,ENSG00000136861:ENST00000473282:exon9:c.G862C:p.E288Q,ENSG00000136861:ENST00000480112:exon9:c.G862C:p.E288Q Score=432;Name=lod=76 NA 9q33.2 NA NA NA NA rs4836822 0.82 0.82 0.806 0.801118 0.9374 0.7123 0.866 0.6808 0.8691 0.94 0.72 0.9 0.71 0.8772 0.94 0.15 T 0.901 P 0.665 P 0.000 D 0.004 P 2.075 M 3.78 T -1.097 T 0.000 T 0.154 1.694 11.62 3.97 1.121 2.527 12.220 1.694259 1.694259 0.26 0.928023 0.692919 NA 0.833 CLINSIG=non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_3;CLNREVSTAT=single;CLNACC=RCV000020847.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK9587:C1858108:604804:ORPHA2512 12.5907104 404 4 75675841 75675841 A T exonic BTC NA nonsynonymous SNV BTC:NM_001729:exon4:c.T370A:p.L124M exonic ENSG00000174808 NA nonsynonymous SNV ENSG00000174808:ENST00000395743:exon4:c.T370A:p.L124M Score=464;Name=lod=103 NA 4q13.3 NA NA NA NA rs11938093 0.18 0.18 0.177 0.19988 0.2555 0.0407 0.2003 0.2428 0.2485 0.24 0.02 0.22 0.23 0.2237 0.27 0.06 T 0.999 D 0.982 D 0.000 D 0.824 P 0.805 L 2.45 T -1.009 T 0.000 T 0.197 3.225 16.81 2.94 1.101 0.064 5.936 3.224906 3.224906 0.09 0.265349 0.270313 NA 0.261 NA 12.5887844 404 22 26854441 26854441 G A exonic HPS4 NA nonsynonymous SNV HPS4:NM_152841:exon10:c.C1801T:p.H601Y,HPS4:NM_022081:exon12:c.C1816T:p.H606Y exonic ENSG00000100099 NA nonsynonymous SNV ENSG00000100099:ENST00000402105:exon10:c.C1801T:p.H601Y,ENSG00000100099:ENST00000398141:exon11:c.C1855T:p.H619Y,ENSG00000100099:ENST00000336873:exon12:c.C1816T:p.H606Y,ENSG00000100099:ENST00000398145:exon12:c.C1816T:p.H606Y Score=343;Name=lod=33 NA 22q12.1 NA NA NA NA rs1894706 0.83 0.83 0.819 0.827476 0.9384 0.8046 0.7594 0.7451 0.8967 0.94 0.79 0.77 0.75 0.8818 0.94 0.08 T 1.0 D 0.999 D 0.000 D 0.012 P 2.36 M 1.94 T -1.099 T 0.000 T 0.369 3.975 20.3 4.7 2.437 8.282 16.825 3.974871 3.974871 0.09 0.927791 0.753972 NA 0.826 NA 12.5853424 405 19 55526373 55526373 G C exonic GP6 NA nonsynonymous SNV GP6:NM_001083899:exon8:c.C940G:p.P314A exonic ENSG00000088053 NA nonsynonymous SNV ENSG00000088053:ENST00000310373:exon8:c.C940G:p.P314A Score=272;Name=lod=17 NA 19q13.42 NA Name=Pol2,HA-E2F1,ELF1_(SC-631),GABP Name=20 NA rs2304166 0.42 0.42 0.379 0.384585 0.6093 0.2411 0.5663 0.2012 0.4202 0.6 0.22 0.59 0.27 0.5425 0.6 0.32 T 1.0 D 0.996 D . . 0.000 P . . 6.55 T -1.180 T 0.000 T 0.174 2.391 13.95 2.65 1.778 0.423 8.956 2.39103 2.39103 0.34 0.601144 0.241434 ID=COSM1396468;OCCURENCE=1(large_intestine) 0.406 NA 12.5803894 405 4 77660731 77660731 C G exonic SHROOM3 NA nonsynonymous SNV SHROOM3:NM_020859:exon5:c.C1405G:p.P469A exonic ENSG00000138771 NA nonsynonymous SNV ENSG00000138771:ENST00000296043:exon5:c.C1405G:p.P469A Score=405;Name=lod=59 NA 4q21.1 NA NA NA NA rs344141 0.47 0.47 0.451 0.438498 0.6064 0.2688 0.4856 0.4213 0.4305 0.61 0.27 0.52 0.47 0.5343 0.61 0.08 T 1.0 D 0.996 D 0.000 N 0.003 P 2.255 M 0.85 T -0.896 T 0.000 T 0.077 2.3 13.65 4.63 1.265 3.257 15.816 2.300121 2.300121 0.11 0.614186 0.44099 ID=COSM1431106;OCCURENCE=1(large_intestine) 0.42 NA 12.5784474 405 7 48089571 48089571 C A exonic C7orf57 NA nonsynonymous SNV C7orf57:NM_001267865:exon5:c.C236A:p.P79H,C7orf57:NM_001267866:exon5:c.C236A:p.P79H,C7orf57:NM_001100159:exon6:c.C602A:p.P201H exonic ENSG00000164746 NA nonsynonymous SNV ENSG00000164746:ENST00000435376:exon5:c.C236A:p.P79H,ENSG00000164746:ENST00000348904:exon6:c.C602A:p.P201H,ENSG00000164746:ENST00000420324:exon6:c.C737A:p.P246H,ENSG00000164746:ENST00000430738:exon6:c.C737A:p.P246H,ENSG00000164746:ENST00000539619:exon6:c.C602A:p.P201H NA NA 7p12.3 NA NA Name=7 NA rs2708890 0.84 0.84 0.834 0.821486 0.9543 0.746 0.8602 0.7761 0.7965 0.95 0.75 0.86 0.77 0.8707 0.95 0.1 T 1.0 D 0.976 D 0.000 D 0.000 P 2.3 M 0.48 T -1.081 T 0.000 T 0.277 1.941 12.45 4.54 1.299 3.697 10.134 1.941271 1.941271 0.2 0.930619 0.769269 NA 0.855 NA 12.5777144 405 5 422955 422955 C G exonic AHRR NA nonsynonymous SNV AHRR:NM_001242412:exon6:c.C565G:p.P189A,AHRR:NM_020731:exon6:c.C565G:p.P189A exonic ENSG00000063438 NA nonsynonymous SNV ENSG00000063438:ENST00000506456:exon2:c.C133G:p.P45A,ENSG00000063438:ENST00000512529:exon4:c.C103G:p.P35A,ENSG00000063438:ENST00000316418:exon6:c.C565G:p.P189A,ENSG00000063438:ENST00000505113:exon6:c.C565G:p.P189A Score=295;Name=lod=21 NA 5p15.33 NA NA NA NA rs2292596 0.31 0.31 0.279 NA NA NA NA NA NA 0.36 0.4 0.3 0.13 0.3802 0.4 0.4 T 0.932 P 0.647 P 0.000 D 0.000 P 2.175 M 2.24 T -0.931 T 0.000 T 0.269 0.095 4.514 3.08 0.450 1.157 4.648 0.095307 NA 0.27 0.377996 0.146637 ID=COSM1600015;OCCURENCE=2(central_nervous_system) 0.37 NA 12.5751374 406 7 135048804 135048804 C T exonic CNOT4 NA nonsynonymous SNV CNOT4:NM_001190849:exon11:c.G1633A:p.V545I,CNOT4:NM_001190850:exon11:c.G1642A:p.V548I exonic ENSG00000080802 NA nonsynonymous SNV ENSG00000080802:ENST00000451834:exon11:c.G1633A:p.V545I,ENSG00000080802:ENST00000541284:exon11:c.G1642A:p.V548I Score=798;Name=lod=2329 NA 7q33 NA NA NA Score=76;Name=2254432_0_-_76 rs3812265 0.32 0.32 0.302 0.273962 0.2455 0.5218 0.3199 0.1581 0.1718 0.26 0.51 0.33 0.2 0.2653 0.51 0.2 T 0.0 B 0.001 B 0.000 D 0.000 P 0.06 N 1.03 T -0.935 T 0.000 T 0.025 0.157 4.845 4.97 1.477 2.408 10.91 0.156993 NA 0.57 0.250126 0.200913 NA 0.181 NA 12.5724074 406 11 5345128 5345128 G A exonic OR51B2 NA nonsynonymous SNV OR51B2:NM_033180:exon1:c.C400T:p.L134F exonic ENSG00000184881 NA nonsynonymous SNV ENSG00000184881:ENST00000328813:exon1:c.C400T:p.L134F Score=304;Name=lod=23 NA 11p15.4 NA NA NA NA rs10837814 0.45 0.45 0.421 0.44349 0.6074 0.3224 0.4582 0.3427 0.5256 0.62 0.32 0.5 0.3 0.5445 0.62 0.01 D 0.991 D 0.918 D 0.329 U 0.000 P 2.965 M 1.92 T -0.937 T 0.000 T 0.261 1.76 11.84 3.35 1.009 0.525 12.223 1.760017 1.760017 0.01 0.612404 0.368923 NA 0.435 NA 12.5690294 406 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 406 11 5373251 5373251 C T exonic OR51B6 NA nonsynonymous SNV OR51B6:NM_001004750:exon1:c.C514T:p.L172F exonic ENSG00000176239 NA nonsynonymous SNV ENSG00000176239:ENST00000380219:exon1:c.C514T:p.L172F NA NA 11p15.4 NA NA NA NA rs5006884 0.22 0.22 0.22 0.233626 0.2644 0.0863 0.2349 0.326 0.228 0.25 0.05 0.25 0.32 0.2382 0.32 0.01 D 0.996 D 0.984 D 0.001 D 0.000 P 2.945 M 8.69 T -0.939 T 0.000 T 0.19 2.076 12.9 3.27 0.748 0.356 9.158 2.076062 2.076062 0.01 0.264138 0.291913 NA 0.239 NA 12.5665954 406 17 39983808 39983808 G C exonic NT5C3B NA nonsynonymous SNV NT5C3B:NM_052935:exon8:c.C638G:p.S213C exonic ENSG00000141698 NA nonsynonymous SNV ENSG00000141698:ENST00000415460:exon7:c.C548G:p.S183C,ENSG00000141698:ENST00000269534:exon8:c.C614G:p.S205C,ENSG00000141698:ENST00000435506:exon8:c.C638G:p.S213C Score=309;Name=lod=24 NA 17q21.2 NA NA NA NA rs1046404 0.77 0.77 0.765 0.786142 0.7296 0.8323 0.8646 0.7526 0.7863 0.72 0.83 0.84 0.75 0.777 0.84 0.16 T 0.991 D 0.852 P 0.000 D 0.000 P 1.8 L -1.57 D -0.902 T 0.000 T 0.309 4.713 26.2 5.07 2.638 7.741 18.245 4.713231 4.713231 0.02 0.760233 0.761235 NA 0.819 NA 12.5665004 407 1 158577109 158577109 A C exonic OR10Z1 NA nonsynonymous SNV OR10Z1:NM_001004478:exon1:c.A881C:p.N294T exonic ENSG00000198967 NA nonsynonymous SNV ENSG00000198967:ENST00000361284:exon1:c.A881C:p.N294T NA NA 1q23.1 NA NA NA NA rs857685 0.27 0.27 0.228 0.242212 0.2634 0.495 0.2983 0.0658 0.1585 0.27 0.44 0.28 0.08 0.2637 0.44 0 D 1.0 D 0.991 D 0.001 N 1.000 P 1.04 L 0.84 T -0.782 T 0.151 T 0.208 2.067 12.87 5.19 2.170 5.936 14.165 2.067421 2.067421 0 0.252326 0.098048 NA 0.203 NA 12.5539074 407 15 84639350 84639350 C T exonic ADAMTSL3 NA nonsynonymous SNV ADAMTSL3:NM_207517:exon20:c.C2605T:p.L869F exonic ENSG00000156218 NA nonsynonymous SNV ENSG00000156218:ENST00000286744:exon20:c.C2605T:p.L869F,ENSG00000156218:ENST00000567476:exon20:c.C2605T:p.L869F NA NA 15q25.2 NA Name=MafK_(ab50322) Name=16 NA rs2277849 0.29 0.29 0.298 0.260383 0.2714 0.3442 0.1571 0.3714 0.0859 0.29 0.35 0.18 0.32 0.246 0.35 0.06 T 0.794 P 0.5 P 0.677 N 1.000 P 1.445 L 0.04 T -1.037 T 0.000 T 0.029 3.81 19.35 2.38 1.043 1.014 8.073 3.810236 3.810236 0.06 0.263837 0.348842 ID=COSM147962;OCCURENCE=1(stomach) 0.326 NA 12.5520964 408 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 408 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 409 1 39352271 39352271 G T exonic RHBDL2 NA nonsynonymous SNV RHBDL2:NM_017821:exon8:c.C817A:p.L273M exonic ENSG00000158315 NA nonsynonymous SNV ENSG00000158315:ENST00000289248:exon8:c.C817A:p.L273M,ENSG00000158315:ENST00000372985:exon8:c.C1057A:p.L353M,ENSG00000158315:ENST00000372990:exon8:c.C817A:p.L273M,ENSG00000158315:ENST00000538156:exon8:c.C1018A:p.L340M Score=590;Name=lod=332 NA 1p34.3 NA NA NA NA rs2147914 0.35 0.35 0.317 0.310503 0.4513 0.2718 0.4798 0.1452 0.3088 0.45 0.29 0.47 0.15 0.3937 0.47 0.24 T 0.994 D 0.854 P 0.000 D 0.000 P 1.5 L 1.41 T -0.847 T 0.000 T 0.221 3.885 19.75 6.03 2.861 2.757 10.462 3.885071 3.885071 0.11 0.455233 0.187699 NA 0.239 NA 12.5331004 409 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 409 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$BACH2_01 NA NA NA rs2232816 0.34 0.34 0.321 0.306909 0.2445 0.5238 0.2867 0.2829 0.1943 0.24 0.53 0.29 0.3 0.2858 0.53 1 T 0.023 B 0.02 B 0.000 D 0.726 P -0.05 N 1.07 T -1.067 T 0.037 T 0.096 0.723 7.848 5.33 1.987 3.514 7.714 0.723345 NA 0.8 0.272093 0.309578 NA 0.362 NA 12.5309404 409 17 6441376 6441376 G A exonic PITPNM3 NA nonsynonymous SNV PITPNM3:NM_001165966:exon2:c.C49T:p.P17S,PITPNM3:NM_031220:exon2:c.C49T:p.P17S exonic ENSG00000091622 NA nonsynonymous SNV ENSG00000091622:ENST00000262483:exon2:c.C49T:p.P17S,ENSG00000091622:ENST00000421306:exon2:c.C49T:p.P17S Score=493;Name=lod=135 NA 17p13.2 Score=800;Name=V$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 409 19 6042059 6042059 C T exonic RFX2 NA nonsynonymous SNV RFX2:NM_000635:exon4:c.G256A:p.A86T,RFX2:NM_134433:exon4:c.G256A:p.A86T exonic ENSG00000087903 NA nonsynonymous SNV ENSG00000087903:ENST00000586302:exon3:c.G166A:p.A56T,ENSG00000087903:ENST00000592473:exon3:c.G121A:p.A41T,ENSG00000087903:ENST00000593241:exon3:c.G121A:p.A41T,ENSG00000087903:ENST00000303657:exon4:c.G256A:p.A86T,ENSG00000087903:ENST00000359161:exon4:c.G256A:p.A86T,ENSG00000087903:ENST00000592281:exon4:c.G256A:p.A86T,ENSG00000087903:ENST00000592546:exon4:c.G256A:p.A86T,ENSG00000087903:ENST00000587181:exon5:c.G256A:p.A86T,ENSG00000087903:ENST00000592883:exon5:c.G256A:p.A86T Score=565;Name=lod=264 NA 19p13.3 NA NA Name=3 NA rs2288846 0.2 0.2 0.204 0.225639 0.2783 0.2183 0.2161 0.1142 0.3364 0.28 0.19 0.21 0.1 0.254 0.28 0.45 T 0.003 B 0.02 B 0.001 D 0.028 P 0.06 N 1.57 T -0.972 T 0.000 T 0.061 1.738 11.77 4.37 2.268 2.297 10.274 1.737821 1.737821 0.39 0.272674 0.133 NA 0.29 NA 12.5283594 409 22 30901592 30901592 T C exonic SEC14L4 NA nonsynonymous SNV SEC14L4:NM_001161368:exon1:c.A7G:p.S3G,SEC14L4:NM_174977:exon1:c.A7G:p.S3G exonic ENSG00000133488 NA nonsynonymous SNV ENSG00000133488:ENST00000255858:exon1:c.A7G:p.S3G,ENSG00000133488:ENST00000320982:exon1:c.A7G:p.S3G,ENSG00000133488:ENST00000321205:exon1:c.A7G:p.S3G,ENSG00000133488:ENST00000381982:exon1:c.A7G:p.S3G Score=549;Name=lod=228 NA 22q12.2 NA Name=Pol2,Pol2-4H8,TAF1 Name=11 NA rs9608956 0.21 0.21 0.182 0.205272 0.2545 0.0397 0.2997 0.2716 0.1687 0.25 0.04 0.25 0.29 0.325 0.29 0.9 T 0.0 B 0.0 B 0.000 N 0.000 P -3.22 N 1.75 T -0.971 T 0.000 T 0.061 0.96 8.917 3.73 1.167 3.927 10.327 0.960179 NA 1 0.226437 0.233149 NA 0.123 NA 12.5273964 410 7 88964196 88964196 T A exonic ZNF804B NA nonsynonymous SNV ZNF804B:NM_181646:exon4:c.T1900A:p.F634I exonic ENSG00000182348 NA nonsynonymous SNV ENSG00000182348:ENST00000333190:exon4:c.T1900A:p.F634I Score=333;Name=lod=30 NA 7q21.13 NA Name=Rad21,CTCF Name=13 NA rs801840 0.49 0.49 0.508 0.520567 0.2346 0.7153 0.3415 0.7738 0.3988 0.24 0.68 0.36 0.76 0.3432 0.76 0.08 T 0.0 B 0.0 B 0.001 D 1.000 P -0.345 N 3.73 T -1.081 T 0.000 T 0.067 0.516 6.795 4.33 0.518 3.085 7.850 0.515659 NA 0.05 0.236744 0.683386 NA 0.435 NA 12.5187894 411 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 411 11 614318 614318 T C exonic IRF7 NA nonsynonymous SNV IRF7:NM_004031:exon4:c.A574G:p.K192E,IRF7:NM_001572:exon6:c.A535G:p.K179E,IRF7:NM_004029:exon6:c.A535G:p.K179E exonic ENSG00000185507 NA nonsynonymous SNV ENSG00000185507:ENST00000397566:exon4:c.A574G:p.K192E,ENSG00000185507:ENST00000330243:exon5:c.A574G:p.K192E,ENSG00000185507:ENST00000348655:exon5:c.A535G:p.K179E,ENSG00000185507:ENST00000525445:exon5:c.A217G:p.K73E,ENSG00000185507:ENST00000397570:exon6:c.A535G:p.K179E,ENSG00000185507:ENST00000397574:exon6:c.A535G:p.K179E NA NA 11p15.5 NA Name=Pol2-4H8 Name=8 NA rs1061502 0.28 0.28 0.267 0.275559 0.2674 0.0208 0.3026 0.5847 0.1094 0.26 0.01 0.34 0.57 0.2688 0.57 1 T 0.0 B 0.001 B . . 1.000 P 0 N -2.89 D -1.031 T 0.000 T 0.072 -1.919 0.008 -5.21 -2.239 -1.728 3.773 -1.918807 NA 0.66 0.291647 0.524113 NA 0.297 NA 12.5054864 412 17 39620565 39620565 C T exonic KRT32 NA nonsynonymous SNV KRT32:NM_002278:exon4:c.G839A:p.R280H exonic ENSG00000108759 NA nonsynonymous SNV ENSG00000108759:ENST00000225899:exon4:c.G839A:p.R280H Score=409;Name=lod=61 NA 17q21.2 NA Name=NRSF NA NA rs72830046 0.17 0.17 0.148 0.179513 0.2724 0.1141 0.196 0.0431 0.3241 0.26 0.1 0.23 0.05 0.2576 0.3 0.05 D 0.205 B 0.179 B 0.492 N 1.000 P 2.68 M -2.6 D -0.978 T 0.000 T 0.108 3.117 16.42 -2.66 -0.710 -0.526 4.826 3.117464 3.117464 0.05 0.303488 0.081026 NA 0.181 NA 12.4998454 413 11 99690376 99690376 C T exonic CNTN5 NA stopgain CNTN5:NM_001243270:exon3:c.C157T:p.R53X,CNTN5:NM_001243271:exon4:c.C157T:p.R53X,CNTN5:NM_014361:exon4:c.C157T:p.R53X exonic ENSG00000149972 NA stopgain ENSG00000149972:ENST00000279463:exon2:c.C157T:p.R53X,ENSG00000149972:ENST00000528682:exon3:c.C157T:p.R53X,ENSG00000149972:ENST00000524871:exon4:c.C157T:p.R53X,ENSG00000149972:ENST00000527185:exon4:c.C157T:p.R53X Score=300;Name=lod=22 NA 11q22.1 Score=840;Name=V$HAND1E47_01 NA NA NA rs12292659 NA NA 0.206 NA NA NA NA NA NA NA NA NA NA 0.263 0.24 1 T . . . . 0.002 N 0.000 P . . . . . . . . . 4.456 23.8 2.96 1.385 1.290 11.008 4.456071 4.456071 1 0.243596 0.216833 NA 0.007 NA 12.493404 413 1 93620393 93620393 G A exonic TMED5 NA nonsynonymous SNV TMED5:NM_016040:exon4:c.C524T:p.T175I exonic ENSG00000117500 NA nonsynonymous SNV ENSG00000117500:ENST00000370282:exon4:c.C524T:p.T175I Score=674;Name=lod=729 NA 1p22.1 NA NA NA NA rs1060622 0.51 0.51 0.456 0.490415 0.6302 0.6438 0.5836 0.0696 0.6912 0.63 0.66 0.59 0.09 0.5864 0.66 0.06 T 0.945 P 0.71 P 0.000 D 0.000 P 2.9 M 2.36 T -1.034 T 0.059 T 0.156 4.543 24.5 3.94 1.510 7.850 10.854 4.543293 4.543293 NA 0.62593 0.166591 NA 0.435 NA 12.4908034 413 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 414 3 31789582 31789582 T C exonic OSBPL10 NA nonsynonymous SNV OSBPL10:NM_001174060:exon4:c.A568G:p.N190D,OSBPL10:NM_017784:exon5:c.A760G:p.N254D exonic ENSG00000144645 NA nonsynonymous SNV ENSG00000144645:ENST00000428241:exon3:c.A184G:p.N62D,ENSG00000144645:ENST00000438237:exon4:c.A568G:p.N190D,ENSG00000144645:ENST00000396556:exon5:c.A760G:p.N254D Score=548;Name=lod=225 NA 3p23 NA NA NA NA rs2290532 0.46 0.46 0.418 0.427516 0.4404 0.7401 0.5576 0.0461 0.5153 0.45 0.78 0.52 0.05 0.4792 0.78 0.83 T 0.992 D 0.724 P 0.000 D 0.000 P 1.02 L 1.02 T -1.057 T 0.000 T 0.035 2.299 13.65 4.48 0.966 5.965 11.445 2.299228 2.299228 0.46 0.438837 0.115978 NA 0.471 NA 12.4748964 414 5 149776232 149776232 C T exonic TCOF1 NA nonsynonymous SNV TCOF1:NM_000356:exon23:c.C3938T:p.A1313V,TCOF1:NM_001135244:exon23:c.C4058T:p.A1353V,TCOF1:NM_001135245:exon23:c.C3941T:p.A1314V,TCOF1:NM_001195141:exon23:c.C4055T:p.A1352V,TCOF1:NM_001135243:exon24:c.C4169T:p.A1390V exonic ENSG00000070814 NA nonsynonymous SNV ENSG00000070814:ENST00000323668:exon23:c.C3938T:p.A1313V,ENSG00000070814:ENST00000427724:exon23:c.C4055T:p.A1352V,ENSG00000070814:ENST00000439160:exon23:c.C4058T:p.A1353V,ENSG00000070814:ENST00000445265:exon23:c.C3941T:p.A1314V,ENSG00000070814:ENST00000377797:exon24:c.C4172T:p.A1391V,ENSG00000070814:ENST00000504761:exon24:c.C4169T:p.A1390V,ENSG00000070814:ENST00000513346:exon24:c.C4169T:p.A1390V,ENSG00000070814:ENST00000451292:exon25:c.C4280T:p.A1427V NA NA 5q32 NA Name=Pol2-4H8 NA NA rs15251 0.22 0.22 0.198 0.224042 0.2972 0.2044 0.2305 0.0567 0.3906 0.3 0.22 0.24 0.06 0.2922 0.3 0.07 T 0.895 P 0.452 P 0.595 N 1.000 P 1.39 L -0.86 T -1.111 T 0.000 T 0.289 2.834 15.44 2.64 1.067 3.327 6.765 2.833743 2.833743 0.01 0.27314 0.087608 NA 0.29 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118615.2;CLNDSDB=.;CLNDSDBID=. 12.4707934 414 5 78326750 78326750 G C exonic DMGDH NA nonsynonymous SNV DMGDH:NM_013391:exon10:c.C1589G:p.A530G exonic ENSG00000132837 NA nonsynonymous SNV ENSG00000132837:ENST00000540686:exon5:c.C449G:p.A150G,ENSG00000132837:ENST00000380311:exon7:c.C986G:p.A329G,ENSG00000132837:ENST00000523732:exon7:c.C1106G:p.A369G,ENSG00000132837:ENST00000255189:exon10:c.C1589G:p.A530G Score=559;Name=lod=250 NA 5q14.1 NA Name=TCF4,FOXA2_(SC-6554),SP1,RXRA,ERalpha_a,TBP,CEBPB,HNF4A_(H-171),FOXA1_(C-20),FOXA1_(SC-101058),HDAC2_(SC-6296),p300,HNF4A,HEY1 Name=8 NA rs1805073 0.3 0.3 0.326 0.305911 0.2962 0.1399 0.1974 0.4985 0.3037 0.29 0.16 0.2 0.54 0.2808 0.54 1 T 0.001 B 0.001 B 0.000 N 0.964 P -1.17 N -1.34 T -0.978 T 0.000 T 0.148 0.862 8.492 5.86 1.498 6.012 17.248 0.862213 NA 1 0.28686 0.465048 NA 0.304 NA 12.4694734 414 19 15730502 15730502 C T exonic CYP4F8 NA unknown UNKNOWN ncRNA_exonic ENSG00000186526 NA NA NA Score=543;Name=lod=215 NA 19p13.12 NA NA NA NA rs61746468 NA NA NA 0.100839 0.2137 0.0397 0.1254 0.0484 0.1012 NA NA NA NA 0.1527 0.11 0.01 D 1.0 D 0.993 D 0.000 U . . . . . . -0.063 T 0.357 T . 2.109 13.01 2.97 1.680 3.539 11.734 2.108844 2.108844 0.01 NA NA NA 0.159 NA 12.4669333 414 11 117074109 117074109 G A exonic TAGLN NA synonymous SNV TAGLN:NM_001001522:exon3:c.G267A:p.K89K,TAGLN:NM_003186:exon3:c.G267A:p.K89K exonic ENSG00000149591 NA synonymous SNV ENSG00000149591:ENST00000532870:exon2:c.G267A:p.K89K,ENSG00000149591:ENST00000278968:exon3:c.G267A:p.K89K,ENSG00000149591:ENST00000392951:exon3:c.G267A:p.K89K,ENSG00000149591:ENST00000529792:exon3:c.G267A:p.K89K,ENSG00000149591:ENST00000530649:exon3:c.G267A:p.K89K,ENSG00000149591:ENST00000525531:exon4:c.G267A:p.K89K Score=592;Name=lod=340 NA 11q23.3 NA Name=Pol2 NA NA rs12970 0.07 0.07 0.053 0.0742812 0.0706 0.0823 0.0605 0.0507 0.1115 0.06 0.1 0.04 0.05 0.0704 0.1 . . . . . . . . 1.000 D . . . . -1.006 T 0.018 T . 1.231 9.991 4.84 2.666 2.647 17.473 1.230759 NA NA 0.059358 0.041118 NA 0.051 NA 12.4663086 415 19 11145691 11145691 C T exonic SMARCA4 NA synonymous SNV SMARCA4:NM_001128845:exon27:c.C3954T:p.D1318D,SMARCA4:NM_001128846:exon27:c.C3954T:p.D1318D,SMARCA4:NM_001128847:exon27:c.C3954T:p.D1318D,SMARCA4:NM_001128848:exon27:c.C3954T:p.D1318D,SMARCA4:NM_001128849:exon29:c.C4053T:p.D1351D,SMARCA4:NM_003072:exon29:c.C4053T:p.D1351D,SMARCA4:NM_001128844:exon30:c.C4053T:p.D1351D exonic ENSG00000127616 NA synonymous SNV ENSG00000127616:ENST00000538456:exon5:c.C594T:p.D198D,ENSG00000127616:ENST00000413806:exon27:c.C3954T:p.D1318D,ENSG00000127616:ENST00000450717:exon27:c.C3954T:p.D1318D,ENSG00000127616:ENST00000590574:exon28:c.C3954T:p.D1318D,ENSG00000127616:ENST00000344626:exon29:c.C4053T:p.D1351D,ENSG00000127616:ENST00000358026:exon29:c.C4053T:p.D1351D,ENSG00000127616:ENST00000444061:exon29:c.C3954T:p.D1318D,ENSG00000127616:ENST00000541122:exon29:c.C3954T:p.D1318D,ENSG00000127616:ENST00000589677:exon29:c.C3954T:p.D1318D,ENSG00000127616:ENST00000429416:exon30:c.C4053T:p.D1351D NA NA 19p13.2 Score=800;Name=V$PAX2_01 NA NA NA rs28997582 0.04 0.04 0.042 0.0471246 0.0666 0.0437 0.0346 0.0045 0.0971 0.07 0.03 0.04 0.01 0.0727 0.07 . . . . . . . . 1.000 D . . . . -0.429 T 0.035 T . -0.333 2.42 -8.82 -2.813 -2.503 19.977 -0.333256 NA NA 0.06314 0.012937 NA 0.029 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114305.1;CLNDSDB=.;CLNDSDBID=. 12.4642266 415 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 415 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 416 17 38457151 38457151 G A exonic CDC6 NA nonsynonymous SNV CDC6:NM_001254:exon10:c.G1321A:p.V441I exonic ENSG00000094804 NA nonsynonymous SNV ENSG00000094804:ENST00000209728:exon10:c.G1321A:p.V441I Score=468;Name=lod=106 NA 17q21.2 NA NA NA NA rs13706 0.28 0.28 0.285 0.279952 0.1113 0.3482 0.183 0.5348 0.1074 0.1 0.38 0.17 0.52 0.1585 0.52 0.5 T 0.838 P 0.444 B 0.000 N 0.006 P 1.71 L 0.64 T -0.891 T 0.000 T 0.074 3.824 19.42 3.82 1.539 4.003 10.430 3.823558 3.823558 0.02 0.110465 0.457104 NA 0.275 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116607.2;CLNDSDB=.;CLNDSDBID=. 12.4530684 416 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 417 20 20079360 20079360 A G exonic C20orf26 NA nonsynonymous SNV C20orf26:NM_001167816:exon7:c.A761G:p.H254R,C20orf26:NM_015585:exon8:c.A761G:p.H254R exonic ENSG00000089101 NA nonsynonymous SNV ENSG00000089101:ENST00000442372:exon2:c.A38G:p.H13R,ENSG00000089101:ENST00000472660:exon6:c.A449G:p.H150R,ENSG00000089101:ENST00000340348:exon7:c.A623G:p.H208R,ENSG00000089101:ENST00000451767:exon7:c.A761G:p.H254R,ENSG00000089101:ENST00000245957:exon8:c.A761G:p.H254R,ENSG00000089101:ENST00000377306:exon8:c.A761G:p.H254R Score=235;Name=lod=12 NA 20p11.23 NA NA NA NA rs6075614 0.06 0.06 0.052 0.0626997 0.1302 0.001 0.0648 0.0053 0.1329 0.14 0.0017 0.07 0.01 0.1125 0.15 0.82 T 0.993 D 0.812 P 0.129 N 0.000 P 0.665 N 1.63 T -1.123 T 0.001 T 0.48 -0.138 3.326 5.44 2.066 5.249 11.472 -0.137624 NA 0.24 0.146047 0.032456 NA 0.043 NA 12.4445864 417 1 17265560 17265560 C T exonic CROCC NA nonsynonymous SNV CROCC:NM_014675:exon12:c.C1531T:p.P511S exonic ENSG00000058453 NA nonsynonymous SNV ENSG00000058453:ENST00000375541:exon12:c.C1531T:p.P511S Score=410;Name=lod=62 NA 1p36.13 NA NA Name=9 NA rs9435793 0.36 0.36 0.35 NA NA NA NA NA NA 0.33 0.42 0.34 0.35 0.3898 0.42 0.81 T 0.634 P 0.367 B . . 0.888 N 0.695 N 3.0 T -0.958 T 0.000 T 0.196 1.533 11.08 4.42 2.702 1.779 8.338 1.532985 1.532985 0.33 NA NA ID=COSM424610;OCCURENCE=1(breast) 0.203 NA 12.4435334 417 12 113825679 113825679 C T exonic PLBD2 NA nonsynonymous SNV PLBD2:NM_001159727:exon10:c.C1474T:p.R492C,PLBD2:NM_173542:exon11:c.C1570T:p.R524C exonic ENSG00000151176 NA nonsynonymous SNV ENSG00000151176:ENST00000545182:exon10:c.C1474T:p.R492C,ENSG00000151176:ENST00000280800:exon11:c.C1570T:p.R524C Score=363;Name=lod=40 NA 12q24.13 NA NA NA NA rs12425042 0.08 0.08 0.078 0.0686901 0.1332 0.001 0.0836 0.0469 0.091 0.14 0.0017 0.09 0.05 0.1095 0.15 0.05 D 0.995 D 0.849 P 0.294 N 0.577 P 2.095 M 2.12 T -1.092 T 0.001 T 0.125 2.618 14.72 2.01 0.579 -0.094 8.280 2.618394 2.618394 0.13 0.147791 0.074444 NA 0.072 NA 12.4428424 417 2 152527572 152527572 C T exonic NEB NA nonsynonymous SNV NEB:NM_001164507:exon38:c.G4471A:p.V1491M,NEB:NM_001164508:exon38:c.G4471A:p.V1491M,NEB:NM_001271208:exon38:c.G4471A:p.V1491M,NEB:NM_004543:exon38:c.G4471A:p.V1491M exonic ENSG00000183091 NA nonsynonymous SNV ENSG00000183091:ENST00000603639:exon36:c.G4471A:p.V1491M,ENSG00000183091:ENST00000604864:exon36:c.G4471A:p.V1491M,ENSG00000183091:ENST00000172853:exon38:c.G4471A:p.V1491M,ENSG00000183091:ENST00000397345:exon38:c.G4471A:p.V1491M,ENSG00000183091:ENST00000409198:exon38:c.G4471A:p.V1491M,ENSG00000183091:ENST00000427231:exon38:c.G4471A:p.V1491M Score=466;Name=lod=104 NA 2q23.3 NA NA NA NA rs7426114 0.57 0.57 0.526 0.533147 0.8231 0.379 0.8357 0.1959 0.635 0.83 0.39 0.8 0.21 0.7386 0.83 0.05 D 0.82 P 0.42 B 0.000 D 0.000 P 1.675 L 3.31 T -1.161 T 0.000 T 0.318 4.27 22.3 5.42 2.691 2.696 14.785 4.27047 4.27047 0.01 0.832544 0.320265 NA 0.63 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081137.3;CLNDSDB=.;CLNDSDBID=. 12.4390894 417 17 74287204 74287204 C G exonic QRICH2 NA nonsynonymous SNV QRICH2:NM_032134:exon4:c.G3106C:p.E1036Q exonic ENSG00000129646 NA nonsynonymous SNV ENSG00000129646:ENST00000447564:exon1:c.G130C:p.E44Q,ENSG00000129646:ENST00000262765:exon4:c.G3106C:p.E1036Q Score=251;Name=lod=14 NA 17q25.1 NA NA NA NA rs2279052 0.41 0.41 0.433 0.415735 0.2753 0.5734 0.2939 0.5113 0.3548 0.26 0.58 0.28 0.54 0.332 0.58 0.12 T 0.972 D 0.932 D . . 0.912 P 0.625 N 2.7 T -0.895 T 0.000 T 0.286 1.529 11.06 5.54 2.610 3.799 14.997 1.528788 1.528788 0 0.287791 0.491829 NA 0.341 NA 12.4382424 417 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 418 2 166797646 166797646 C T exonic TTC21B NA nonsynonymous SNV TTC21B:NM_024753:exon6:c.G601A:p.V201M exonic ENSG00000123607 NA nonsynonymous SNV ENSG00000123607:ENST00000243344:exon6:c.G601A:p.V201M Score=531;Name=lod=191 NA 2q24.3 NA NA NA NA rs1432273 0.67 0.67 0.643 0.667332 0.6322 0.7986 0.7536 0.5454 0.6718 0.63 0.8 0.69 0.59 0.6568 0.8 0.03 D 0.992 D 0.95 D 0.001 N 0.000 P 2.28 M 0.73 T -0.975 T 0.000 T 0.123 3.394 17.45 2.52 0.311 0.677 3.784 3.393885 3.393885 0.01 0.610465 0.585565 NA 0.783 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000118729.2;CLNDSDB=.;CLNDSDBID=. 12.4338684 418 14 96010424 96010424 G A exonic GLRX5 NA nonsynonymous SNV GLRX5:NM_016417:exon2:c.G436A:p.A146T exonic ENSG00000182512 NA nonsynonymous SNV ENSG00000182512:ENST00000331334:exon2:c.G436A:p.A146T Score=343;Name=lod=33 NA 14q32.13 NA NA NA NA rs11628901 0.08 0.08 0.085 0.0830671 0.1362 0.0218 0.1153 0.0431 0.1227 0.14 0.02 0.09 0.05 0.1198 0.15 0.18 T 0.866 P 0.082 B 0.000 D 0.000 P 1.3 L 1.27 T -1.060 T 0.000 T 0.173 3.822 19.41 4.11 1.079 7.191 12.827 3.822386 3.822386 0.06 0.146628 0.057876 NA 0.13 NA 12.4307054 418 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$AHRARNT_02 NA NA NA rs2072788 0.38 0.38 0.366 0.395767 0.2634 0.755 0.3444 0.1959 0.4683 0.26 0.73 0.34 0.18 0.3755 0.73 1 T 0.149 B 0.095 B 0.001 D 1.000 P -0.73 N -1.72 D -0.947 T 0.000 T 0.217 -0.228 2.899 3.82 1.258 1.582 7.358 -0.228035 NA 1 0.268128 0.193616 NA 0.21 NA 12.4263054 419 14 20295834 20295834 T C exonic OR4N2 NA nonsynonymous SNV OR4N2:NM_001004723:exon1:c.T227C:p.I76T exonic ENSG00000176294 NA nonsynonymous SNV ENSG00000176294:ENST00000315947:exon1:c.T227C:p.I76T,ENSG00000176294:ENST00000568211:exon1:c.T227C:p.I76T,ENSG00000176294:ENST00000557677:exon2:c.T227C:p.I76T Score=385;Name=lod=49 NA 14q11.2 Score=719;Name=V$HOX13_01 Name=CTCF NA NA rs2801164 0.47 0.47 0.435 NA NA NA NA NA NA 0.45 0.42 0.44 0.6 0.4756 0.6 0.52 T 0.006 B 0.018 B 0.000 D 0.993 P -1.075 N 6.89 T -1.207 T 0.000 T 0.336 1.312 10.3 4.3 1.922 0.524 11.704 1.311947 1.311947 0.08 0.440088 0.556287 NA 0.326 NA 12.4176454 420 17 56332327 56332327 G A exonic LPO NA nonsynonymous SNV LPO:NM_001160102:exon7:c.G1012A:p.V338M,LPO:NM_006151:exon9:c.G1261A:p.V421M exonic ENSG00000167419 NA nonsynonymous SNV ENSG00000167419:ENST00000421678:exon7:c.G1012A:p.V338M,ENSG00000167419:ENST00000543544:exon8:c.G1084A:p.V362M,ENSG00000167419:ENST00000262290:exon9:c.G1261A:p.V421M,ENSG00000167419:ENST00000582328:exon9:c.G1012A:p.V338M NA NA 17q22 Score=899;Name=V$AREB6_01 Name=c-Myc,Rad21,CTCFL_(SC-98982),USF-1,CTCF Name=6 NA rs2301870 0.14 0.14 0.128 0.161342 0.1461 0.1151 0.0821 0.2526 0.1575 0.13 0.11 0.1 0.22 0.1371 0.22 0.83 T 0.642 P 0.223 B 0.304 N 1.000 P -0.12 N -0.29 T -1.098 T 0.000 T 0.036 1.497 10.95 -6.83 -1.086 -0.721 16.741 1.497075 1.497075 0.23 0.13593 0.223786 ID=COSM148305;OCCURENCE=1(stomach) 0.181 NA 12.4142034 420 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 420 19 9028373 9028373 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon11:c.C36419T:p.T12140M exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon11:c.C36419T:p.T12140M NA NA 19p13.2 NA NA NA NA rs56396897 0.24 0.24 0.25 0.214058 0.341 0.2381 0.2075 0.0545 0.2791 0.34 0.26 0.23 0.04 0.2647 0.34 0 D 1.0 D 0.998 D . . . . . . 1.07 T -1.035 T 0.000 T 0.117 1.593 11.28 2.63 1.757 2.623 8.891 1.593164 1.593164 NA 0.3163 0.104079 NA 0.232 NA 12.4113334 420 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 420 12 125453115 125453115 C T exonic DHX37 NA nonsynonymous SNV DHX37:NM_032656:exon10:c.G1373A:p.R458Q exonic ENSG00000150990 NA nonsynonymous SNV ENSG00000150990:ENST00000544745:exon7:c.G734A:p.R245Q,ENSG00000150990:ENST00000308736:exon10:c.G1373A:p.R458Q Score=559;Name=lod=250 NA 12q24.31 NA NA NA NA rs11057939 0.08 0.08 0.078 0.0537141 0.1581 NA 0.0994 0.0076 0.0317 0.16 NA 0.13 0.01 0.1094 0.16 0.07 T 0.794 P 0.154 B 0.000 D 0.000 P 1.71 L 2.58 T -1.007 T 0.000 T 0.385 3.565 18.17 4.6 2.263 4.311 17.377 3.565362 3.565362 0.05 0.157326 0.026555 NA 0.116 NA 12.4085074 420 15 101606889 101606889 G A exonic LRRK1 NA nonsynonymous SNV LRRK1:NM_024652:exon33:c.G5813A:p.G1938D exonic ENSG00000154237 NA nonsynonymous SNV ENSG00000154237:ENST00000388948:exon33:c.G5813A:p.G1938D,ENSG00000154237:ENST00000284395:exon34:c.G5804A:p.G1935D NA NA 15q26.3 NA NA NA NA rs2924835 0.23 0.23 0.229 0.272165 0.3201 0.3403 0.3559 0.0794 0.3538 0.25 0.31 0.26 0.08 0.3047 0.31 0.04 D 0.016 B 0.007 B 0.000 D 0.000 P 1.995 M -0.65 T -1.100 T 0.000 T 0.395 0.85 8.438 5.51 2.582 3.321 15.738 0.850072 NA 0.03 0.30154 0.100771 NA NA NA 12.4069934 420 1 144879090 144879090 T C exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon27:c.A4360G:p.K1454E,PDE4DIP:NM_014644:exon27:c.A4360G:p.K1454E,PDE4DIP:NM_001198832:exon30:c.A4228G:p.K1410E exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon27:c.A4360G:p.K1454E,ENSG00000178104:ENST00000369356:exon27:c.A4360G:p.K1454E,ENSG00000178104:ENST00000313382:exon30:c.A4228G:p.K1410E,ENSG00000178104:ENST00000369359:exon30:c.A4768G:p.K1590E,ENSG00000178104:ENST00000530740:exon30:c.A4768G:p.K1590E NA NA 1q21.1 NA NA NA NA rs1778120 0.27 0.27 0.187 NA NA NA NA NA NA 0.26 0.3 0.3 0.21 0.2947 0.3 0.11 T 0.996 D 0.895 P . . 0.975 D 1.52 L 4.75 T -0.782 T 0.008 T 0.304 2.471 14.22 5.29 2.232 1.133 11.540 2.470544 2.470544 0.03 0.132209 0.110077 NA 0.283 NA 12.4064244 421 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 421 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 422 7 23811800 23811800 G T exonic STK31 NA nonsynonymous SNV STK31:NM_001260504:exon15:c.G1799T:p.S600I,STK31:NM_001260505:exon15:c.G1868T:p.S623I,STK31:NM_031414:exon15:c.G1868T:p.S623I,STK31:NM_032944:exon15:c.G1799T:p.S600I exonic ENSG00000196335 NA nonsynonymous SNV ENSG00000196335:ENST00000354639:exon15:c.G1799T:p.S600I,ENSG00000196335:ENST00000355870:exon15:c.G1868T:p.S623I,ENSG00000196335:ENST00000428484:exon15:c.G1799T:p.S600I,ENSG00000196335:ENST00000433467:exon15:c.G1868T:p.S623I Score=606;Name=lod=386 NA 7p15.3 NA NA NA NA rs10247878 0.1 0.1 0.088 0.0744808 0.16 0.0476 0.0908 0.0431 0.045 0.16 0.04 0.13 0.05 0.1216 0.16 0.19 T 0.664 P 0.125 B 0.001 D 0.992 P 1.935 M 1.21 T -1.093 T 0.001 T 0.256 1.764 11.86 2.34 0.188 1.051 8.460 1.76399 1.76399 0.08 0.163484 0.059746 NA 0.087 NA 12.3882494 422 8 144946818 144946818 C T exonic EPPK1 NA nonsynonymous SNV EPPK1:NM_031308:exon1:c.G604A:p.D202N exonic ENSG00000227184 NA nonsynonymous SNV ENSG00000227184:ENST00000525985:exon2:c.G604A:p.D202N Score=422;Name=lod=69 NA 8q24.3 Score=877;Name=V$FAC1_01 NA NA NA rs13260439 0.32 0.32 0.308 0.296326 0.493 0.2371 0.4597 0.0242 0.407 0.5 0.25 0.44 0.04 0.4454 0.51 0.07 T 0.996 D 0.555 P . . 0.201 P . . -0.63 T -0.902 T 0.000 T 0.06 3.194 16.69 4.14 2.304 1.052 14.265 3.19413 3.19413 NA 0.507079 0.100696 NA 0.239 NA 12.3878544 423 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 423 13 50141345 50141345 G A exonic RCBTB1 NA nonsynonymous SNV RCBTB1:NM_018191:exon3:c.C71T:p.A24V exonic ENSG00000136144 NA nonsynonymous SNV ENSG00000136144:ENST00000258646:exon1:c.C71T:p.A24V,ENSG00000136144:ENST00000378302:exon3:c.C71T:p.A24V,ENSG00000136144:ENST00000546015:exon3:c.C71T:p.A24V Score=432;Name=lod=76 NA 13q14.2 NA NA NA NA rs4942848 0.59 0.59 0.56 0.526158 0.6561 0.6131 0.7305 0.3177 0.4397 0.67 0.64 0.68 0.33 0.6165 0.68 1 T 1.0 D 0.999 D 0.000 D 0.000 P 1.35 L 1.34 T -0.927 T 0.000 T 0.369 4.468 23.9 5.84 2.779 9.358 20.147 4.468169 4.468169 0.01 0.684535 0.376759 NA 0.413 NA 12.3761984 423 14 92441066 92441066 C T exonic TRIP11 NA nonsynonymous SNV TRIP11:NM_004239:exon19:c.G5479A:p.G1827S exonic ENSG00000100815 NA nonsynonymous SNV ENSG00000100815:ENST00000267622:exon19:c.G5479A:p.G1827S Score=455;Name=lod=94 NA 14q32.12 NA NA NA NA rs1051340 0.27 0.27 0.269 0.271366 0.3131 0.3065 0.1643 0.2095 0.3517 0.32 0.34 0.17 0.2 0.3155 0.34 0.05 D 0.973 D 0.351 B 0.000 D 0.001 P 0.805 L 3.52 T -0.973 T 0.000 T 0.299 3.434 17.62 3.9 0.770 2.209 12.367 3.433947 3.433947 0.04 0.329302 0.223105 NA 0.312 NA 12.3754314 424 11 60701136 60701136 C G exonic TMEM132A NA synonymous SNV TMEM132A:NM_017870:exon8:c.C1482G:p.P494P,TMEM132A:NM_178031:exon8:c.C1479G:p.P493P exonic ENSG00000006118 NA synonymous SNV ENSG00000006118:ENST00000005286:exon8:c.C1482G:p.P494P,ENSG00000006118:ENST00000453848:exon8:c.C1479G:p.P493P Score=489;Name=lod=129 NA 11q12.2 Score=865;Name=V$MAZR_01 NA NA NA rs9513 0.41 0.41 0.382 0.421126 0.4225 0.3165 0.4452 0.4713 0.4427 0.42 0.32 0.45 0.47 0.4523 0.5 0 D . . . . 0.000 D 0.000 P . . 1.6 T -0.966 T 0.000 T . -0.629 1.214 -3.54 -1.522 -2.894 7.829 -0.628838 NA NA 0.41978 0.45672 NA 0.478 NA 12.3720866 424 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 424 6 7247344 7247344 C A exonic RREB1 NA nonsynonymous SNV RREB1:NM_001003698:exon11:c.C4496A:p.S1499Y,RREB1:NM_001168344:exon11:c.C4496A:p.S1499Y,RREB1:NM_001003699:exon12:c.C4661A:p.S1554Y exonic ENSG00000124782 NA nonsynonymous SNV ENSG00000124782:ENST00000349384:exon11:c.C4496A:p.S1499Y,ENSG00000124782:ENST00000379933:exon11:c.C4496A:p.S1499Y,ENSG00000124782:ENST00000379938:exon12:c.C4661A:p.S1554Y Score=497;Name=lod=139 NA 6p24.3 Score=950;Name=V$LYF1_01 NA NA NA rs35742417 0.14 0.14 0.135 0.127396 0.161 0.0357 0.0908 0.239 0.0624 0.17 0.04 0.1 0.21 0.1418 0.21 0.15 T 0.547 P 0.26 B 0.562 N 0.998 P 1.245 L 3.12 T -0.932 T 0.008 T 0.044 1.731 11.75 3.42 1.215 2.107 4.320 1.731099 1.731099 0.01 0.160581 0.203586 ID=COSM150040;OCCURENCE=1(stomach) 0.101 NA 12.3699524 425 16 81249927 81249927 C T exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon2:c.G386A:p.G129D exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000337114:exon2:c.G386A:p.G129D,ENSG00000269323:ENST00000599697:exon2:c.G386A:p.G129D Score=340;Name=lod=32 NA 16q23.2 NA NA NA NA rs7185774 0.18 0.18 0.177 0.149361 0.3598 0.0089 0.2219 0.0598 0.1472 0.34 0.0035 0.29 0.06 0.2632 0.35 0.09 T 0.998 D 0.947 D 0.795 N 0.000 P . . 2.2 T -1.003 T 0.000 T 0.495 3.316 17.15 5.09 2.391 3.983 18.583 3.316419 3.316419 0.02 0.345524 0.115904 NA 0.174 NA 12.3648094 425 7 25182405 25182405 G T exonic C7orf31 NA nonsynonymous SNV C7orf31:NM_138811:exon8:c.C713A:p.P238Q exonic ENSG00000153790 NA nonsynonymous SNV ENSG00000153790:ENST00000283905:exon8:c.C713A:p.P238Q,ENSG00000153790:ENST00000409280:exon8:c.C713A:p.P238Q Score=467;Name=lod=105 NA 7p15.3 Score=772;Name=V$PAX4_04 NA NA NA rs11984293 0.21 0.21 0.231 0.208267 0.167 0.1587 0.1167 0.416 0.0859 0.17 0.16 0.13 0.4 0.1626 0.4 0.9 T 0.518 P 0.147 B 0.004 N 0.809 P 0.625 N 3.35 T -0.998 T 0.000 T 0.094 0.905 8.678 4.55 2.594 3.457 7.453 0.904534 NA 0.67 0.141744 0.390604 NA 0.167 NA 12.3619894 425 14 50298962 50298962 T A exonic NEMF NA nonsynonymous SNV NEMF:NM_004713:exon9:c.A769T:p.S257C exonic ENSG00000165525 NA nonsynonymous SNV ENSG00000165525:ENST00000545773:exon8:c.A643T:p.S215C,ENSG00000165525:ENST00000555970:exon8:c.A643T:p.S215C,ENSG00000165525:ENST00000298310:exon9:c.A769T:p.S257C,ENSG00000165525:ENST00000546046:exon9:c.A769T:p.S257C Score=603;Name=lod=377 NA 14q21.3 NA NA NA NA rs3100906 0.93 0.93 0.928 0.927316 0.996 0.9851 0.9769 0.7511 1 1 0.98 0.97 0.76 0.9782 1 0.1 T 0.999 D 0.976 D 0.000 D 0.000 P 2.71 M 0.94 T -1.076 T 0.000 T 0.784 4.242 22.1 5.33 2.017 4.464 14.460 4.241907 4.241907 0.14 0.99814 0.789832 NA 0.949 NA 12.3609934 425 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$CEBP_01 NA NA NA rs2230283 0.24 0.24 0.23 0.205272 0.3529 0.1369 0.2435 0.1536 0.1667 0.36 0.15 0.23 0.18 0.2766 0.36 0.06 T 0.88 P 0.794 P . . 0.000 P 1.89 L 1.41 T -1.066 T 0.000 T 0.181 4.431 23.6 5.93 2.814 7.429 19.338 4.430637 4.430637 0.07 0.342857 0.17863 ID=COSM1128449;OCCURENCE=1(prostate) 0.261 NA 12.3609764 425 19 15083693 15083693 C A exonic SLC1A6 NA synonymous SNV SLC1A6:NM_005071:exon1:c.G30T:p.L10L,SLC1A6:NM_001272088:exon2:c.G30T:p.L10L,SLC1A6:NM_001272087:exon4:c.G30T:p.L10L exonic ENSG00000105143 NA nonsynonymous SNV ENSG00000105143:ENST00000430939:exon2:c.G43T:p.A15S,ENSG00000105143:ENST00000599636:exon2:c.G43T:p.A15S Score=480;Name=lod=119 NA 19p13.12 Score=841;Name=V$GR_Q6 Name=E2F6 NA NA rs3746295 0.55 0.55 0.537 0.552117 0.5199 0.6567 0.4697 0.5091 0.5941 0.52 0.66 0.51 0.51 0.5873 0.66 0 D 0.018 B 0.011 B . . 0.000 P . . -0.8 T -0.904 T 0.000 T . 2.33 13.75 4.41 2.278 1.323 12.362 2.329945 2.329945 NA 0.532711 0.521012 ID=COSM438761;OCCURENCE=1(breast) 0.543 NA 12.360089 426 1 3428608 3428608 G A exonic MEGF6 NA nonsynonymous SNV MEGF6:NM_001409:exon8:c.C938T:p.A313V exonic ENSG00000162591 NA nonsynonymous SNV ENSG00000162591:ENST00000294599:exon5:c.C623T:p.A208V,ENSG00000162591:ENST00000356575:exon8:c.C938T:p.A313V,ENSG00000162591:ENST00000485002:exon8:c.C959T:p.A320V NA NA 1p36.32 Score=775;Name=V$AHR_01 NA NA NA rs11585362 0.28 0.28 0.283 0.255192 0.1501 0.4048 0.1945 0.3411 0.136 0.14 0.41 0.23 0.36 0.184 0.41 0.3 T 0.95 P 0.36 B 0.000 D 1.000 P 1.295 L -3.01 D -1.110 T 0.000 T 0.279 1.271 10.15 3.71 0.909 5.545 8.415 1.271169 1.271169 0.13 0.145858 0.304953 NA 0.486 NA 12.3533754 426 6 51875250 51875250 A C exonic PKHD1 NA nonsynonymous SNV PKHD1:NM_138694:exon35:c.T5608G:p.L1870V,PKHD1:NM_170724:exon35:c.T5608G:p.L1870V exonic ENSG00000170927 NA nonsynonymous SNV ENSG00000170927:ENST00000340994:exon35:c.T5608G:p.L1870V,ENSG00000170927:ENST00000371117:exon35:c.T5608G:p.L1870V Score=842;Name=lod=3528 NA 6p12.2 NA Name=GATA-2,p300 Name=3 NA rs2435322 0.97 0.97 0.967 0.955871 1 1 0.9914 0.8374 1 1 1 1 0.86 0.9872 1 1 T 0.0 B 0.0 B 0.000 N 0.995 P -1.04 N -1.58 D -0.947 T 0.115 T 0.021 -0.175 3.145 5.63 1.396 5.050 16.157 -0.175481 NA 1 0.99907 0.865638 NA 0.978 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082560.1;CLNDSDB=.;CLNDSDBID=. 12.3470634 427 14 63174960 63174960 C T exonic KCNH5 NA nonsynonymous SNV KCNH5:NM_139318:exon11:c.G2233A:p.A745T exonic ENSG00000140015 NA nonsynonymous SNV ENSG00000140015:ENST00000322893:exon11:c.G2233A:p.A745T Score=391;Name=lod=52 NA 14q23.2 NA NA NA NA rs4902176 0.25 0.25 0.216 0.221246 0.3479 0.1478 0.2997 0.1936 0.1483 0.33 0.15 0.33 0.2 0.2941 0.35 0.59 T 0.017 B 0.003 B 0.000 D 0.000 P 1.245 L -5.22 D -0.909 T 0.000 T 0.064 -0.23 2.888 5.52 2.611 3.750 19.456 -0.230279 NA 0.62 0.347093 0.205629 NA 0.326 NA 12.3442404 427 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 427 4 129043204 129043204 C G exonic LARP1B NA nonsynonymous SNV LARP1B:NM_018078:exon11:c.C1385G:p.P462R,LARP1B:NM_178043:exon11:c.C1385G:p.P462R exonic ENSG00000138709 NA nonsynonymous SNV ENSG00000138709:ENST00000264584:exon10:c.C1244G:p.P415R,ENSG00000138709:ENST00000508819:exon10:c.C1244G:p.P415R,ENSG00000138709:ENST00000326639:exon11:c.C1385G:p.P462R,ENSG00000138709:ENST00000427266:exon11:c.C1385G:p.P462R,ENSG00000138709:ENST00000441387:exon11:c.C1385G:p.P462R,ENSG00000138709:ENST00000512292:exon11:c.C1385G:p.P462R Score=664;Name=lod=665 NA 4q28.2 NA NA NA NA rs12508837 0.56 0.56 0.51 0.590256 0.6759 0.5288 0.696 0.3941 0.7556 0.68 0.46 0.68 0.4 0.6529 0.68 0.09 T 1.0 D 1.0 D 0.000 D 0.000 P 1.995 M 1.92 T -0.953 T 0.000 T 0.506 2.077 12.9 2.54 0.335 1.486 7.708 2.077054 2.077054 0.01 0.664884 0.455742 NA 0.543 NA 12.3396494 427 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 428 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 428 2 203820453 203820453 T C exonic ALS2CR8 NA nonsynonymous SNV ALS2CR8:NM_001104586:exon7:c.T614C:p.I205T,ALS2CR8:NM_024744:exon8:c.T614C:p.I205T exonic ENSG00000138380 NA nonsynonymous SNV ENSG00000138380:ENST00000414439:exon5:c.T308C:p.I103T,ENSG00000138380:ENST00000545253:exon5:c.T350C:p.I117T,ENSG00000138380:ENST00000422368:exon6:c.T524C:p.I175T,ENSG00000138380:ENST00000428585:exon6:c.T386C:p.I129T,ENSG00000138380:ENST00000434998:exon6:c.T308C:p.I103T,ENSG00000138380:ENST00000456821:exon6:c.T578C:p.I193T,ENSG00000138380:ENST00000457031:exon6:c.T524C:p.I175T,ENSG00000138380:ENST00000320443:exon7:c.T614C:p.I205T,ENSG00000138380:ENST00000402905:exon7:c.T614C:p.I205T,ENSG00000138380:ENST00000444724:exon7:c.T614C:p.I205T,ENSG00000138380:ENST00000545262:exon7:c.T386C:p.I129T,ENSG00000138380:ENST00000438828:exon8:c.T614C:p.I205T Score=552;Name=lod=233 NA 2q33.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.58 T 0.403 B 0.223 B 0.239 N 1.000 N -0.55 N . . -1.022 T 0.027 T 0.12 0.716 7.814 3.62 1.986 2.018 5.711 0.716246 NA 0.59 NA NA NA NA NA 12.3333334 428 4 83785582 83785582 T C exonic SEC31A NA nonsynonymous SNV SEC31A:NM_001191049:exon10:c.A1352G:p.N451S,SEC31A:NM_001077206:exon11:c.A1367G:p.N456S,SEC31A:NM_001077207:exon11:c.A1367G:p.N456S,SEC31A:NM_001077208:exon11:c.A1367G:p.N456S,SEC31A:NM_014933:exon11:c.A1367G:p.N456S,SEC31A:NM_016211:exon11:c.A1367G:p.N456S exonic ENSG00000138674 NA nonsynonymous SNV ENSG00000138674:ENST00000510167:exon1:c.A170G:p.N57S,ENSG00000138674:ENST00000264405:exon5:c.A683G:p.N228S,ENSG00000138674:ENST00000443462:exon10:c.A1352G:p.N451S,ENSG00000138674:ENST00000500777:exon10:c.A1367G:p.N456S,ENSG00000138674:ENST00000505472:exon10:c.A1367G:p.N456S,ENSG00000138674:ENST00000311785:exon11:c.A1367G:p.N456S,ENSG00000138674:ENST00000326950:exon11:c.A1367G:p.N456S,ENSG00000138674:ENST00000348405:exon11:c.A1367G:p.N456S,ENSG00000138674:ENST00000395310:exon11:c.A1367G:p.N456S,ENSG00000138674:ENST00000432794:exon11:c.A1367G:p.N456S,ENSG00000138674:ENST00000448323:exon11:c.A1367G:p.N456S,ENSG00000138674:ENST00000505984:exon11:c.A1367G:p.N456S,ENSG00000138674:ENST00000508479:exon11:c.A1367G:p.N456S,ENSG00000138674:ENST00000508502:exon11:c.A1367G:p.N456S,ENSG00000138674:ENST00000509142:exon11:c.A1367G:p.N456S,ENSG00000138674:ENST00000513858:exon11:c.A1367G:p.N456S,ENSG00000138674:ENST00000355196:exon13:c.A1367G:p.N456S NA NA 4q21.22 Score=800;Name=V$CDP_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.67 T 0.0 B 0.001 B 0.652 N 1.000 N -0.595 N 3.34 T -1.015 T 0.028 T 0.042 -2.094 0.006 -6.5 -3.442 -2.191 9.857 -2.094395 NA 0.72 NA NA NA NA NA 12.3333334 428 13 110839550 110839550 T G exonic COL4A1 NA nonsynonymous SNV COL4A1:NM_001845:exon25:c.A1663C:p.T555P exonic ENSG00000187498 NA nonsynonymous SNV ENSG00000187498:ENST00000375820:exon25:c.A1663C:p.T555P Score=389;Name=lod=51 NA 13q34 Score=891;Name=V$OCT1_06 NA Name=3 NA rs536174 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.135 N -3.22 D -0.915 T 0.000 T 0.217 -0.619 1.249 4.66 1.110 5.987 14.593 -0.619053 NA 1 NA NA NA 1 NA 12.3333334 428 17 36861983 36861983 T C exonic MLLT6 NA nonsynonymous SNV MLLT6:NM_005937:exon1:c.T98C:p.V33A exonic ENSG00000108292 NA nonsynonymous SNV ENSG00000108292:ENST00000325718:exon1:c.T98C:p.V33A,ENSG00000108292:ENST00000378137:exon1:c.T98C:p.V33A Score=676;Name=lod=748 NA 17q12 Score=879;Name=V$EGR3_01 Name=ZBTB7A_(SC-34508),Egr-1 Name=70 NA rs17855918 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.002 B 0.000 N 1.000 P -2.81 N -2.15 D -0.947 T 0.000 T 0.144 0.092 4.495 2.34 0.247 4.890 7.306 0.091752 NA 1 NA NA NA NA NA 12.3333334 428 X 82764042 82764042 G C exonic POU3F4 NA nonsynonymous SNV POU3F4:NM_000307:exon1:c.G710C:p.G237A exonic ENSG00000196767 NA nonsynonymous SNV ENSG00000196767:ENST00000373200:exon1:c.G710C:p.G237A Score=752;Name=lod=1515 NA Xq21.1 NA NA NA NA rs5921979 0.89 0.89 NA NA NA NA NA NA NA 0.87 0.92 0.93 0.86 1 0.93 1 T 0.0 B 0.0 B 0.000 N 0.979 P -2.595 N -1.51 D -0.923 T 0.000 T 0.316 0.005 4.042 5.07 1.057 5.871 14.777 0.00539 NA 1 NA NA ID=COSM1180653;OCCURENCE=1(upper_aerodigestive_tract) NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036257.1;CLNDSDB=.;CLNDSDBID=. 12.3333334 428 14 94088734 94088734 G A exonic UNC79 NA nonsynonymous SNV UNC79:NM_020818:exon30:c.G4624A:p.D1542N exonic ENSG00000133958 NA nonsynonymous SNV ENSG00000133958:ENST00000256339:exon30:c.G4624A:p.D1542N,ENSG00000133958:ENST00000393151:exon30:c.G5155A:p.D1719N,ENSG00000133958:ENST00000555664:exon30:c.G5155A:p.D1719N,ENSG00000133958:ENST00000553484:exon31:c.G5221A:p.D1741N Score=300;Name=lod=22 NA 14q32.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008273 NA 0.36 T 0.003 B 0.003 B 0.014 N 0.885 N 0.205 N 2.18 T -1.056 T 0.027 T 0.058 -0.411 2.082 5.06 2.351 4.029 9.266 -0.410584 NA 0.17 NA NA NA NA NA 12.3333251 428 7 69064806 69064806 A G exonic AUTS2 NA nonsynonymous SNV AUTS2:NM_001127231:exon1:c.A167G:p.K56R,AUTS2:NM_001127232:exon1:c.A167G:p.K56R,AUTS2:NM_015570:exon1:c.A167G:p.K56R exonic ENSG00000158321 NA nonsynonymous SNV ENSG00000158321:ENST00000342771:exon1:c.A167G:p.K56R,ENSG00000158321:ENST00000403018:exon1:c.A167G:p.K56R,ENSG00000158321:ENST00000406775:exon1:c.A167G:p.K56R Score=670;Name=lod=703 NA 7q11.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002327 NA . . 0.22 B 0.101 B 0.010 N 1.000 N 0.805 L 1.53 T -1.070 T 0.041 T 0.125 3.398 17.47 2.73 1.624 2.322 4.471 3.398368 3.398368 0.1 NA NA NA NA NA 12.3333101 428 20 62378405 62378405 C T exonic ZBTB46 NA nonsynonymous SNV ZBTB46:NM_025224:exon5:c.G1648A:p.E550K exonic ENSG00000130584 NA nonsynonymous SNV ENSG00000130584:ENST00000395104:exon4:c.G1648A:p.E550K,ENSG00000130584:ENST00000245663:exon5:c.G1648A:p.E550K,ENSG00000130584:ENST00000302995:exon5:c.G1648A:p.E550K Score=461;Name=lod=100 NA 20q13.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000261 NA 0.62 T 0.016 B 0.001 B 0.005 N 0.779 N 0.895 L 2.79 T -1.060 T 0.021 T 0.177 0.422 6.294 3.95 1.732 5.205 14.990 0.422292 NA 0.33 NA NA NA NA NA 12.3333073 428 1 27332521 27332521 C T exonic FAM46B NA nonsynonymous SNV FAM46B:NM_052943:exon2:c.G1192A:p.V398I exonic ENSG00000158246 NA nonsynonymous SNV ENSG00000158246:ENST00000289166:exon2:c.G1192A:p.V398I NA NA 1p36.11 NA Name=Pol2 Name=42 NA rs199549779 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001726 0.0001 0.16 T 0.0 B 0.001 B 0.148 N 1.000 N 1.42 L 1.93 T -1.072 T 0.035 T 0.043 -0.202 3.02 -5.78 -1.365 -1.191 4.164 -0.201923 NA 0.18 0.000116 0 NA NA NA 12.3332001 428 5 24511490 24511490 C T exonic CDH10 NA nonsynonymous SNV CDH10:NM_006727:exon6:c.G948A:p.M316I exonic ENSG00000040731 NA nonsynonymous SNV ENSG00000040731:ENST00000264463:exon6:c.G948A:p.M316I,ENSG00000040731:ENST00000510477:exon6:c.G948A:p.M316I Score=428;Name=lod=73 NA 5p14.2 NA NA NA NA rs145397210 NA NA NA 0.000399361 NA NA NA NA 0.002 NA NA NA NA 0.0002 0.0001 0.57 T 0.014 B 0.028 B 0.001 N 0.959 D 0.365 N 4.76 T -0.750 T 0.005 T 0.313 1.344 10.41 5.22 2.410 2.300 11.263 1.343513 1.343513 0.64 0.000116 0 NA NA NA 12.3330174 428 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 428 3 156413682 156413682 A C exonic TIPARP NA nonsynonymous SNV TIPARP:NM_001184717:exon4:c.A1115C:p.N372T,TIPARP:NM_001184718:exon4:c.A1115C:p.N372T,TIPARP:NM_015508:exon4:c.A1115C:p.N372T exonic ENSG00000163659 NA nonsynonymous SNV ENSG00000163659:ENST00000295924:exon4:c.A1115C:p.N372T,ENSG00000163659:ENST00000461166:exon4:c.A1115C:p.N372T,ENSG00000163659:ENST00000473702:exon4:c.A1115C:p.N372T,ENSG00000163659:ENST00000481853:exon4:c.A1115C:p.N372T,ENSG00000163659:ENST00000486483:exon4:c.A1115C:p.N372T,ENSG00000163659:ENST00000542783:exon4:c.A1115C:p.N372T Score=567;Name=lod=268 NA 3q25.31 NA NA NA NA rs143409745 0.0018 0.0018 NA 0.000998403 NA 0.001 0.0058 NA NA NA 0.0017 0.01 NA 0.0005 0.01 0.73 T 0.031 B 0.006 B 0.000 D 0.989 D 0 N 1.58 T -1.092 T 0.061 T 0.104 1.073 9.38 2.75 0.916 1.937 9.706 1.072822 NA 0.64 0.001744 0 NA NA NA 12.3310894 428 4 123207867 123207867 T G exonic KIAA1109 NA nonsynonymous SNV KIAA1109:NM_015312:exon51:c.T9209G:p.V3070G exonic ENSG00000138688 NA nonsynonymous SNV ENSG00000138688:ENST00000388738:exon51:c.T9209G:p.V3070G,ENSG00000138688:ENST00000455637:exon51:c.T9209G:p.V3070G,ENSG00000138688:ENST00000264501:exon53:c.T9209G:p.V3070G Score=638;Name=lod=520 NA 4q27 NA NA NA NA rs79067453 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.0014 0.0011 0.38 T 0.0 B 0.001 B 0.004 N 1.000 D -0.345 N 2.55 T -1.032 T 0.026 T 0.458 2.355 13.83 5.48 2.085 3.795 15.571 2.354926 2.354926 0.08 0.001093 0.000795 NA NA NA 12.3308404 428 22 50555686 50555686 A C exonic MOV10L1 NA nonsynonymous SNV MOV10L1:NM_001164104:exon9:c.A1360C:p.I454L,MOV10L1:NM_001164105:exon9:c.A1300C:p.I434L,MOV10L1:NM_018995:exon9:c.A1360C:p.I454L exonic ENSG00000073146 NA nonsynonymous SNV ENSG00000073146:ENST00000262794:exon9:c.A1360C:p.I454L,ENSG00000073146:ENST00000395858:exon9:c.A1360C:p.I454L,ENSG00000073146:ENST00000540615:exon9:c.A1300C:p.I434L,ENSG00000073146:ENST00000545383:exon10:c.A1360C:p.I454L NA NA 22q13.33 NA Name=GTF2B Name=2 NA rs760749 0.16 0.16 0.141 0.147963 0.1849 0.2391 0.1182 0.0212 0.2086 0.19 0.22 0.17 0.02 0.1575 0.22 0.97 T 0.472 P 0.082 B 0.000 D 0.000 P 0.975 L -1.28 T -0.953 T 0.000 T 0.345 0.517 6.8 5.76 2.193 0.754 10.326 0.516669 NA 0.64 0.161512 0.039719 NA 0.145 NA 12.3294214 428 16 2133726 2133726 C T exonic TSC2 NA nonsynonymous SNV TSC2:NM_001077183:exon31:c.C3713T:p.P1238L,TSC2:NM_001114382:exon32:c.C3845T:p.P1282L,TSC2:NM_000548:exon33:c.C3914T:p.P1305L exonic ENSG00000103197 NA nonsynonymous SNV ENSG00000103197:ENST00000382538:exon30:c.C3569T:p.P1190L,ENSG00000103197:ENST00000439673:exon30:c.C3605T:p.P1202L,ENSG00000103197:ENST00000401874:exon31:c.C3713T:p.P1238L,ENSG00000103197:ENST00000568454:exon31:c.C3746T:p.P1249L,ENSG00000103197:ENST00000350773:exon32:c.C3845T:p.P1282L,ENSG00000103197:ENST00000353929:exon32:c.C3785T:p.P1262L,ENSG00000103197:ENST00000219476:exon33:c.C3914T:p.P1305L NA NA 16p13.3 Score=902;Name=V$NFKAPPAB65_01 NA NA NA rs45517320 0.01 0.01 0 0.0091853 NA NA 0.0029 0.0333 NA NA NA 0.0028 0.02 0.0046 0.021 0.65 T 1.0 D 0.992 D 0.521 N 0.515 N 0.695 N -2.31 D -0.404 T 0.405 T 0.553 2.089 12.94 -0.89 0.219 0.467 4.912 2.089178 2.089178 0.01 0.000233 0.020833 NA NA CLINSIG=other|untested|probable-non-pathogenic|non-pathogenic;CLNDBN=not_provided|Tuberous_sclerosis_syndrome|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=mult|not|single|single;CLNACC=RCV000034654.4|RCV000054866.1|RCV000118705.3|RCV000130814.1;CLNDSDB=.|GeneReviews:MedGen:OMIM:SNOMED_CT|.|MedGen;CLNDSDBID=.|NBK1220:C0041341:191100:7199000|.|C0027672 12.3285004 428 10 53458646 53458646 A C exonic CSTF2T NA nonsynonymous SNV CSTF2T:NM_015235:exon1:c.T664G:p.C222G exonic ENSG00000177613 NA nonsynonymous SNV ENSG00000177613:ENST00000331173:exon1:c.T664G:p.C222G Score=417;Name=lod=66 NA 10q21.1 NA NA NA NA rs143249904 0.0009 0.0009 NA 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0014 0.0026 0.37 T 0.0 B 0.0 B 0.040 N 1.000 D 0 N 2.17 T -1.037 T 0.025 T 0.732 0.447 6.428 4.27 2.149 1.795 10.070 0.44713 NA 0.66 0.001744 0.000454 NA NA NA 12.3281894 429 17 2203175 2203175 C G exonic SMG6 NA nonsynonymous SNV SMG6:NM_017575:exon2:c.G872C:p.R291P exonic ENSG00000070366 NA nonsynonymous SNV ENSG00000070366:ENST00000263073:exon2:c.G872C:p.R291P,ENSG00000070366:ENST00000544865:exon2:c.G779C:p.R260P Score=346;Name=lod=34 NA 17p13.3 NA NA NA NA rs1885986 0.23 0.23 0.201 0.184704 0.3569 0.0893 0.4222 0.0318 0.1442 0.34 0.13 0.43 0.04 0.2929 0.43 0.06 T 0.998 D 0.921 D 0.004 N 0.000 P 0.895 L 2.89 T -0.817 T 0.000 T 0.777 2.872 15.57 5.35 2.490 3.931 19.057 2.871802 2.871802 0 0.359419 0.072855 NA 0.232 NA 12.3241144 429 16 4033436 4033436 T C exonic ADCY9 NA nonsynonymous SNV ADCY9:NM_001116:exon7:c.A2316G:p.I772M exonic ENSG00000162104 NA nonsynonymous SNV ENSG00000162104:ENST00000294016:exon7:c.A2316G:p.I772M NA NA 16p13.3 Score=786;Name=V$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 429 2 171572940 171572940 G A exonic SP5 NA nonsynonymous SNV SP5:NM_001003845:exon2:c.G223A:p.A75T exonic ENSG00000204335 NA nonsynonymous SNV ENSG00000204335:ENST00000375281:exon2:c.G223A:p.A75T Score=575;Name=lod=290 NA 2q31.1 Score=808;Name=V$PAX4_01 Name=SETDB1,Pol2,HEY1 Name=5 NA rs3749036 0.43 0.43 0.408 0.438299 0.3012 0.5962 0.4553 0.5113 0.3057 0.31 0.56 0.4 0.49 0.38 0.56 0.65 T 0.0 B 0.0 B 0.000 D 0.980 P -0.895 N 3.02 T -0.997 T 0.000 T 0.017 0.495 6.686 0.867 0.292 1.032 3.349 0.495106 NA 0.96 0.33011 0.483712 NA 0.065 NA 12.3220234 429 15 78466037 78466037 C G exonic ACSBG1 NA nonsynonymous SNV ACSBG1:NM_001199377:exon13:c.G1975C:p.E659Q,ACSBG1:NM_015162:exon13:c.G1987C:p.E663Q exonic ENSG00000103740 NA nonsynonymous SNV ENSG00000103740:ENST00000541759:exon9:c.G1261C:p.E421Q,ENSG00000103740:ENST00000560817:exon9:c.G1261C:p.E421Q,ENSG00000103740:ENST00000258873:exon13:c.G1987C:p.E663Q Score=358;Name=lod=38 NA 15q25.1 NA NA NA NA rs137988972 0.0018 0.0018 NA 0.00219649 0.003 NA 0.0029 0.0008 0.0051 0.004 NA NA 0.002 0.0034 0.011 0.77 T 0.003 B 0.006 B 0.002 N 0.998 D 1.445 L 2.8 T -1.076 T 0.019 T 0.129 2.341 13.79 4.42 1.476 4.783 15.347 2.341281 2.341281 0.4 0.005823 0.001138 NA 0.007 NA 12.3211104 429 4 106604164 106604164 C A exonic INTS12 NA nonsynonymous SNV INTS12:NM_001142471:exon7:c.G1115T:p.G372V,INTS12:NM_020395:exon8:c.G1115T:p.G372V exonic ENSG00000138785 NA nonsynonymous SNV ENSG00000138785:ENST00000451321:exon7:c.G1115T:p.G372V,ENSG00000138785:ENST00000340139:exon8:c.G1115T:p.G372V,ENSG00000138785:ENST00000394735:exon8:c.G1115T:p.G372V Score=597;Name=lod=355 NA 4q24 NA NA NA NA rs115302648 0.0023 0.0023 0.001 0.00119808 0.004 NA 0.0029 NA NA 0.004 NA 0.01 NA 0.0033 0.01 0.18 T 0.003 B 0.004 B 0.051 N 1.000 D 0.205 N 0.9 T -1.096 T 0.047 T 0.133 2.364 13.86 4.31 2.384 3.610 14.212 2.363723 2.363723 0.26 0.005 0.001589 NA NA NA 12.3210334 429 14 21972019 21972019 G A exonic METTL3 NA nonsynonymous SNV METTL3:NM_019852:exon2:c.C106T:p.R36W exonic ENSG00000165819 NA nonsynonymous SNV ENSG00000165819:ENST00000298717:exon2:c.C106T:p.R36W,ENSG00000165819:ENST00000537163:exon2:c.C106T:p.R36W,ENSG00000165819:ENST00000538267:exon2:c.C106T:p.R36W,ENSG00000165819:ENST00000543235:exon2:c.C106T:p.R36W,ENSG00000165819:ENST00000544248:exon2:c.C106T:p.R36W Score=538;Name=lod=204 NA 14q11.2 NA NA NA NA rs139460746 0.0027 0.0027 0.003 0.00119808 0.005 NA NA 0.0008 NA 0.01 NA NA 0.002 0.0027 0.01 . . 0.915 P 0.522 P 0.001 N 0.996 D 0 N 1.39 T -1.125 T 0.040 T 0.347 3.108 16.38 3.29 0.675 1.589 12.470 3.108202 3.108202 0.02 0.004767 0.000908 NA NA NA 12.3208664 429 4 55131118 55131118 C T exonic PDGFRA NA nonsynonymous SNV PDGFRA:NM_006206:exon5:c.C661T:p.L221F exonic ENSG00000134853 NA nonsynonymous SNV ENSG00000134853:ENST00000257290:exon5:c.C661T:p.L221F,ENSG00000134853:ENST00000509490:exon5:c.C661T:p.L221F NA NA 4q12 NA NA NA NA rs139913632 0.0023 0.0023 NA 0.00159744 0.004 NA NA NA 0.0041 0.01 NA NA NA 0.0038 0.011 0.04 D 0.358 B 0.246 B 0.270 U 1.000 N 0.69 N -0.93 T -0.643 T 0.271 T 0.101 2.009 12.67 4.38 2.470 1.090 17.459 2.008778 2.008778 0.05 0.004884 0.000227 NA 0.007 CLINSIG=unknown|untested;CLNDBN=not_provided|not_specified;CLNREVSTAT=single|not;CLNACC=RCV000034723.1|RCV000121797.1;CLNDSDB=.|.;CLNDSDBID=.|. 12.3206494 429 15 67528374 67528374 T G exonic AAGAB NA nonsynonymous SNV AAGAB:NM_001271885:exon4:c.A67C:p.I23L,AAGAB:NM_001271886:exon4:c.A67C:p.I23L,AAGAB:NM_024666:exon4:c.A394C:p.I132L exonic ENSG00000103591 NA nonsynonymous SNV ENSG00000103591:ENST00000261880:exon4:c.A394C:p.I132L,ENSG00000103591:ENST00000542650:exon4:c.A67C:p.I23L,ENSG00000103591:ENST00000560362:exon4:c.A67C:p.I23L,ENSG00000103591:ENST00000561452:exon4:c.A67C:p.I23L Score=578;Name=lod=299 NA 15q23 Score=871;Name=V$YY1_01 NA NA NA rs7173826 0.35 0.35 0.331 0.363419 0.331 0.6478 0.4179 0.0613 0.4734 0.34 0.63 0.38 0.05 0.3641 0.63 0.8 T 0.019 B 0.019 B 0.000 D 0.001 P 0.385 N 0.82 T -0.999 T 0.000 T 0.153 2.139 13.11 5.48 2.210 3.056 15.853 2.139046 2.139046 0.38 0.321281 0.105263 NA 0.297 NA 12.3169524 430 2 241569692 241569692 C T exonic GPR35 NA nonsynonymous SNV GPR35:NM_005301:exon2:c.C323T:p.T108M,GPR35:NM_001195381:exon6:c.C416T:p.T139M,GPR35:NM_001195382:exon6:c.C416T:p.T139M exonic ENSG00000178623 NA nonsynonymous SNV ENSG00000178623:ENST00000430267:exon1:c.C323T:p.T108M,ENSG00000178623:ENST00000407714:exon2:c.C323T:p.T108M,ENSG00000178623:ENST00000319838:exon6:c.C323T:p.T108M,ENSG00000178623:ENST00000403859:exon6:c.C323T:p.T108M,ENSG00000178623:ENST00000438013:exon6:c.C416T:p.T139M NA Name=Inflammatory bowel disease 2q37.3 NA NA NA NA rs3749171 0.16 0.16 0.149 0.150759 0.173 0.0863 0.1268 0.2209 0.1166 0.19 0.09 0.14 0.2 0.1754 0.23 0.02 D 0.984 D 0.477 P 0.273 N 1.000 P 1.745 L -0.8 T -0.774 T 0.000 T 0.087 0.71 7.781 -7.41 -1.845 -0.440 18.033 0.709551 NA 0.06 0.1719 0.225374 NA 0.188 NA 12.3130334 430 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 430 10 12595329 12595329 A G exonic CAMK1D NA nonsynonymous SNV CAMK1D:NM_020397:exon2:c.A198G:p.I66M,CAMK1D:NM_153498:exon2:c.A198G:p.I66M exonic ENSG00000183049 NA nonsynonymous SNV ENSG00000183049:ENST00000378845:exon2:c.A198G:p.I66M,ENSG00000183049:ENST00000378847:exon2:c.A198G:p.I66M Score=600;Name=lod=367 NA 10p13 NA NA NA NA rs34194224 0.0032 0.0032 0.003 0.00199681 0.007 NA 0.0014 0.0008 0.001 0.01 NA 0.0028 0.002 0.0071 0.012 0.1 T 0.086 B 0.068 B 0.000 D 0.988 D 0.915 L 0.99 T -1.073 T 0.035 T 0.357 2.277 13.57 -9.95 -1.916 -0.359 5.910 2.27668 2.27668 0.11 0.01186 0.002497 NA NA NA 12.3073734 430 6 136682172 136682172 G A exonic MAP7 NA nonsynonymous SNV MAP7:NM_001198617:exon10:c.C1390T:p.R464W,MAP7:NM_001198611:exon11:c.C1627T:p.R543W,MAP7:NM_001198616:exon11:c.C1561T:p.R521W,MAP7:NM_001198608:exon12:c.C1738T:p.R580W,MAP7:NM_001198609:exon12:c.C1762T:p.R588W,MAP7:NM_001198615:exon12:c.C1627T:p.R543W,MAP7:NM_001198618:exon12:c.C1234T:p.R412W,MAP7:NM_001198619:exon12:c.C1234T:p.R412W,MAP7:NM_003980:exon12:c.C1672T:p.R558W,MAP7:NM_001198614:exon13:c.C1738T:p.R580W exonic ENSG00000135525 NA nonsynonymous SNV ENSG00000135525:ENST00000438100:exon11:c.C1627T:p.R543W,ENSG00000135525:ENST00000354570:exon12:c.C1672T:p.R558W,ENSG00000135525:ENST00000432797:exon12:c.C1234T:p.R412W,ENSG00000135525:ENST00000544465:exon12:c.C1627T:p.R543W,ENSG00000135525:ENST00000454590:exon13:c.C1738T:p.R580W Score=358;Name=lod=38 NA 6q23.3 NA Name=ZNF263 NA NA rs2076190 0.75 0.75 0.736 0.771565 0.8459 0.6736 0.8026 0.7156 0.8497 0.85 0.67 0.78 0.68 0.831 0.85 0.07 T 0.999 D 0.88 P 0.059 N 0.016 P 2.595 M 1.76 T -0.965 T 0.092 T 0.406 2.539 14.45 2.78 0.988 1.543 10.923 2.539239 2.539239 0.11 0.849416 0.739521 NA 0.739 NA 12.3070174 430 X 1537881 1537881 C T exonic ASMTL NA nonsynonymous SNV ASMTL:NM_001173474:exon9:c.G1324A:p.V442M,ASMTL:NM_001173473:exon10:c.G1198A:p.V400M,ASMTL:NM_004192:exon10:c.G1372A:p.V458M exonic ENSG00000169093 NA nonsynonymous SNV ENSG00000169093:ENST00000381333:exon9:c.G1324A:p.V442M,ENSG00000169093:ENST00000416733:exon9:c.G1144A:p.V382M,ENSG00000169093:ENST00000381317:exon10:c.G1372A:p.V458M,ENSG00000169093:ENST00000534940:exon10:c.G1198A:p.V400M Score=432;Name=lod=76 NA Xp22.33 NA Name=Pol2-4H8,Pol2(phosphoS2) NA NA rs4503285 0.26 0.26 0.24006 NA NA NA NA NA NA 0.23 0.23 0.33 0.28 0.2727 0.33 0.02 D 0.985 D 0.509 P 0.010 U 1.000 N 1.965 M 0.94 T -1.002 T 0.000 T 0.14 0.348 5.889 0.547 -0.451 0.547 2.904 0.348066 NA 0.01 0.253809 0.26522 NA 0.239 NA 12.3068244 431 3 132218621 132218621 G A exonic DNAJC13 NA nonsynonymous SNV DNAJC13:NM_015268:exon38:c.G4385A:p.R1462H exonic ENSG00000138246 NA nonsynonymous SNV ENSG00000138246:ENST00000260818:exon38:c.G4385A:p.R1462H Score=621;Name=lod=446 NA 3q22.1 NA NA NA NA rs61748103 0.01 0.01 0.003 0.00559105 0.0109 NA 0.0029 0.0023 0.0123 0.02 NA 0.0028 0.0041 0.0091 0.02 0.22 T 0.0 B 0.0 B 0.000 D 0.708 D 0 N 2.25 T -1.035 T 0.010 T 0.125 1.395 10.6 3.37 0.671 2.696 6.941 1.395139 1.395139 0.16 0.01 0.000454 NA NA NA 12.3033334 431 11 870446 870446 G A exonic CHID1 NA nonsynonymous SNV CHID1:NM_001142677:exon10:c.C920T:p.A307V,CHID1:NM_001142675:exon11:c.C1013T:p.A338V,CHID1:NM_023947:exon11:c.C1013T:p.A338V,CHID1:NM_001142674:exon12:c.C1013T:p.A338V,CHID1:NM_001142676:exon12:c.C1088T:p.A363V exonic ENSG00000177830 NA nonsynonymous SNV ENSG00000177830:ENST00000532909:exon1:c.C41T:p.A14V,ENSG00000177830:ENST00000429789:exon10:c.C920T:p.A307V,ENSG00000177830:ENST00000323541:exon11:c.C1103T:p.A368V,ENSG00000177830:ENST00000323578:exon11:c.C1013T:p.A338V,ENSG00000177830:ENST00000449825:exon11:c.C1013T:p.A338V,ENSG00000177830:ENST00000454838:exon11:c.C1088T:p.A363V,ENSG00000177830:ENST00000436108:exon12:c.C1013T:p.A338V,ENSG00000177830:ENST00000528581:exon12:c.C1088T:p.A363V,ENSG00000177830:ENST00000336845:exon13:c.C1088T:p.A363V Score=457;Name=lod=96 NA 11p15.5 NA Name=CTCF NA NA rs6682 0.52 0.52 0.537 0.56889 0.4851 0.7639 0.4092 0.4077 0.7853 0.49 0.73 0.43 0.41 0.5466 0.73 0.24 T 0.661 P 0.363 B 0.027 N 0.014 P 2.215 M 1.83 T -1.006 T 0.000 T 0.303 2.909 15.69 3.99 1.935 2.460 11.920 2.90857 2.90857 0.21 0.498836 0.434151 NA 0.413 NA 12.3027974 431 5 56177443 56177443 G A exonic MAP3K1 NA nonsynonymous SNV MAP3K1:NM_005921:exon14:c.G2416A:p.D806N exonic ENSG00000095015 NA nonsynonymous SNV ENSG00000095015:ENST00000399503:exon14:c.G2416A:p.D806N Score=597;Name=lod=355 NA 5q11.2 NA NA NA NA rs702689 0.5 0.5 0.492 0.476438 0.7117 0.2431 0.4914 0.4622 0.4836 0.7 0.24 0.53 0.48 0.5984 0.72 0.36 T 0.999 D 0.915 D 0.000 D 0.000 P 1.265 L 0.82 T -0.975 T 0.000 T 0.088 2.295 13.63 5.56 2.778 8.102 19.881 2.295264 2.295264 0.24 0.720839 0.494635 NA 0.507 NA 12.3023944 431 12 101693534 101693534 C G exonic UTP20 NA nonsynonymous SNV UTP20:NM_014503:exon13:c.C1505G:p.S502C exonic ENSG00000120800 NA nonsynonymous SNV ENSG00000120800:ENST00000261637:exon13:c.C1505G:p.S502C NA NA 12q23.2 NA NA NA NA rs4764643 0.11 0.11 0.116 0.105631 0.1849 0.0288 0.1254 0.0439 0.1728 0.19 0.03 0.14 0.05 0.1578 0.19 0.08 T 0.976 D 0.602 P 0.000 D 0.971 P 1.1 L -0.28 T -1.153 T 0.001 T 0.164 2.278 13.57 5.75 2.716 2.834 18.121 2.277826 2.277826 0 0.18923 0.056514 NA 0.167 NA 12.3014034 431 16 22149688 22149688 T C exonic VWA3A NA nonsynonymous SNV VWA3A:NM_173615:exon22:c.T2147C:p.F716S exonic ENSG00000175267 NA nonsynonymous SNV ENSG00000175267:ENST00000563389:exon4:c.T293C:p.F98S,ENSG00000175267:ENST00000389398:exon22:c.T2147C:p.F716S,ENSG00000175267:ENST00000568328:exon23:c.T2210C:p.F737S Score=389;Name=lod=51 NA 16p12.2 NA NA NA NA rs145806753 0.0041 0.0041 0.002 0.00299521 0.0089 NA 0.0043 0.0008 0.002 0.01 NA 0.01 NA 0.0132 0.011 0.12 T 0.259 B 0.081 B 0.530 N 1.000 D 1.355 L 2.71 T -1.053 T 0.026 T 0.475 2.872 15.57 4.21 2.139 3.104 8.890 2.872183 2.872183 0.01 0.011494 0.00199 NA NA NA 12.2997394 432 8 25159885 25159885 G A exonic DOCK5 NA synonymous SNV DOCK5:NM_024940:exon10:c.G891A:p.V297V exonic ENSG00000147459 NA synonymous SNV ENSG00000147459:ENST00000276440:exon10:c.G891A:p.V297V,ENSG00000147459:ENST00000481100:exon10:c.G891A:p.V297V Score=549;Name=lod=227 NA 8p21.2 Score=834;Name=V$AHRARNT_01 NA NA NA rs907157 0.31 0.31 0.291 0.277955 0.498 0.244 0.3646 0.0514 0.3313 0.49 0.24 0.4 0.06 0.4083 0.49 0 D . . . . 0.000 D 0.000 P . . 2.21 T -0.901 T 0.000 T . 1.341 10.41 4.67 1.332 1.503 10.514 1.341314 1.341314 NA 0.467093 0.110077 NA 0.246 NA 12.2932736 432 5 639231 639231 C A exonic CEP72 NA nonsynonymous SNV CEP72:NM_018140:exon8:c.C1234A:p.P412T exonic ENSG00000112877 NA nonsynonymous SNV ENSG00000112877:ENST00000264935:exon8:c.C1234A:p.P412T NA NA 5p15.33 NA NA NA NA rs12522955 0.1 0.1 0.078 0.0904553 0.1928 0.0099 0.1138 0.0045 0.1677 0.2 0.01 0.14 0.0041 0.1489 0.2 0.76 T 0.987 D 0.755 P 0.013 N 0.998 P 2.015 M 1.44 T -1.041 T 0.000 T 0.084 1.314 10.31 3.58 1.171 1.019 8.978 1.314332 1.314332 0.18 0.198721 0.038357 NA 0.094 NA 12.2929124 432 6 29691582 29691582 C A exonic HLA-F NA nonsynonymous SNV HLA-F:NM_001098478:exon2:c.C212A:p.P71Q,HLA-F:NM_001098479:exon2:c.C212A:p.P71Q,HLA-F:NM_018950:exon2:c.C212A:p.P71Q exonic ENSG00000204642 NA nonsynonymous SNV ENSG00000204642:ENST00000259951:exon2:c.C212A:p.P71Q,ENSG00000204642:ENST00000334668:exon2:c.C212A:p.P71Q,ENSG00000204642:ENST00000414333:exon2:c.C212A:p.P71Q,ENSG00000204642:ENST00000434407:exon2:c.C212A:p.P71Q,ENSG00000204642:ENST00000376861:exon3:c.C212A:p.P71Q Score=304;Name=lod=23 NA 6p22.1 NA Name=Pol2-4H8,CTCF NA NA rs17875380 0.01 0.01 0.01 0.00379393 0.0159 NA NA NA 0.0031 0.02 NA NA 0.0041 0.0154 0.02 0 D 0.194 B 0.198 B 0.402 U 1.000 D 3.025 M 9.27 T -0.977 T 0.003 T 0.459 0.931 8.795 1.63 0.871 -0.216 6.582 0.931455 NA 0 0.012759 0.00365 NA NA NA 12.2892744 432 6 45290634 45290634 G A exonic SUPT3H NA nonsynonymous SNV SUPT3H:NM_181356:exon3:c.C20T:p.T7M exonic ENSG00000196284 NA nonsynonymous SNV ENSG00000196284:ENST00000371461:exon1:c.C20T:p.T7M,ENSG00000196284:ENST00000371460:exon3:c.C20T:p.T7M Score=745;Name=lod=1425 NA 6p21.1 NA NA NA NA rs9472463 0.01 0.01 0.008 0.00459265 0.0179 NA 0.0029 0.0008 0.002 0.02 NA 0.01 0.002 0.0119 0.02 0 D 0.005 B 0.01 B 0.191 N 1.000 N . . 0.8 T -1.034 T 0.053 T 0.027 2.574 14.57 4.34 1.293 2.849 8.330 2.574496 2.574496 0 0.015465 0.003631 NA NA NA 12.2880684 432 11 125871715 125871715 G A exonic CDON NA nonsynonymous SNV CDON:NM_001243597:exon11:c.C2057T:p.A686V,CDON:NM_016952:exon11:c.C2057T:p.A686V exonic ENSG00000064309 NA nonsynonymous SNV ENSG00000064309:ENST00000531738:exon2:c.C188T:p.A63V,ENSG00000064309:ENST00000263577:exon11:c.C2057T:p.A686V,ENSG00000064309:ENST00000392693:exon11:c.C2057T:p.A686V Score=412;Name=lod=63 NA 11q24.2 Score=850;Name=V$NGFIC_01 NA NA NA rs12274923 0.13 0.13 0.117 0.111222 0.1909 0.0546 0.1455 0.0628 0.1288 0.21 0.06 0.12 0.08 0.1631 0.21 0.29 T 0.969 D 0.829 P 0.002 N 0.126 P 0.975 L 0.16 T -1.093 T 0.000 T 0.146 3.151 16.54 2.78 0.404 1.470 10.766 3.151256 3.151256 0.09 0.192254 0.102453 NA 0.072 NA 12.2870794 432 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$MIF1_01 NA Name=77 NA rs35575210 0.13 0.13 0.109 0.132188 0.1899 0.1429 0.1354 0.0265 0.2025 0.19 0.12 0.16 0.02 0.1658 0.19 . . 0.496 P 0.178 B . . 0.000 P 1.795 L 2.01 T -1.025 T 0.000 T 0.2 3.718 18.88 4.43 0.908 1.178 6.56 3.717957 3.717957 0.01 0.191279 0.046527 NA 0.094 NA 12.2863544 432 6 129722453 129722453 C A exonic LAMA2 NA nonsynonymous SNV LAMA2:NM_000426:exon38:c.C5530A:p.R1844S,LAMA2:NM_001079823:exon38:c.C5530A:p.R1844S exonic ENSG00000196569 NA nonsynonymous SNV ENSG00000196569:ENST00000421865:exon38:c.C5530A:p.R1844S Score=429;Name=lod=74 NA 6q22.33 NA NA NA NA rs56173620 0.01 0.01 0.012 0.00499201 0.0199 NA 0.0043 NA 0.002 0.02 NA 0.0028 NA 0.0107 0.022 0.75 T 0.085 B 0.059 B 0.157 N 0.974 N 0.695 N 1.97 T -0.960 T 0.011 T 0.194 0.595 7.208 4.4 1.312 1.080 8.784 0.594825 NA 0.73 0.017093 0.004085 NA 0.08 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078779.3;CLNDSDB=.;CLNDSDBID=. 12.2856404 433 17 4457116 4457116 T C exonic MYBBP1A NA nonsynonymous SNV MYBBP1A:NM_001105538:exon5:c.A550G:p.I184V,MYBBP1A:NM_014520:exon5:c.A550G:p.I184V exonic ENSG00000132382 NA nonsynonymous SNV ENSG00000132382:ENST00000254718:exon5:c.A550G:p.I184V,ENSG00000132382:ENST00000381556:exon5:c.A550G:p.I184V Score=457;Name=lod=96 NA 17p13.2 Score=874;Name=V$ELK1_01 NA NA NA rs78557985 0.02 0.02 0.02 0.0189696 0.0199 0.001 0.0202 0.0439 0.002 0.02 NA 0.02 0.05 0.0167 0.055 0.35 T 0.012 B 0.057 B 0.000 N 0.782 N 1.995 M -0.28 T -0.945 T 0.052 T 0.149 0.686 7.665 3.52 0.164 3.370 10.069 0.685787 NA 0.11 0.016163 0.054698 NA 0.014 NA 12.2805704 433 20 139456 139456 G A exonic DEFB127 NA nonsynonymous SNV DEFB127:NM_139074:exon2:c.G91A:p.G31R exonic ENSG00000088782 NA nonsynonymous SNV ENSG00000088782:ENST00000382388:exon2:c.G91A:p.G31R NA NA 20p13 NA NA NA NA rs12624954 0.32 0.32 0.286 0.324281 0.3419 0.5446 0.3487 0.0424 0.4427 0.34 0.5 0.37 0.04 0.3603 0.5 0.05 D 1.0 D 1.0 D 0.005 N 1.000 P . . 0.01 T -0.908 T 0.000 T 0.327 1.29 10.22 3.12 2.059 3.236 9.978 1.289992 1.289992 0.15 0.351512 0.08965 NA 0.145 NA 12.2796214 434 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 434 15 41247859 41247859 A T exonic CHAC1 NA nonsynonymous SNV CHAC1:NM_024111:exon3:c.A682T:p.M228L,CHAC1:NM_001142776:exon4:c.A547T:p.M183L exonic ENSG00000128965 NA nonsynonymous SNV ENSG00000128965:ENST00000487220:exon2:c.A1T:p.M1L,ENSG00000128965:ENST00000446533:exon3:c.A682T:p.M228L,ENSG00000128965:ENST00000444189:exon4:c.A547T:p.M183L Score=565;Name=lod=264 NA 15q15.1 Score=725;Name=V$SEF1_C NA NA NA rs112036939 0.01 0.01 0.008 0.00698882 0.0219 NA 0.0144 0.0015 0.001 0.02 NA 0.02 0.002 0.0165 0.026 0.39 T 0.277 B 0.129 B 0.000 N 1.000 D 0.34 N 1.54 T -1.069 T 0.014 T 0.361 1.438 10.75 3.33 0.940 7.452 8.028 1.437504 1.437504 0.14 0.025814 0.004993 NA NA NA 12.2691194 434 1 117635413 117635413 A G exonic TTF2 NA nonsynonymous SNV TTF2:NM_003594:exon18:c.A2866G:p.S956G exonic ENSG00000116830 NA nonsynonymous SNV ENSG00000116830:ENST00000369466:exon18:c.A2866G:p.S956G Score=428;Name=lod=73 NA 1p13.1 NA NA Name=6 NA rs80076283 0.01 0.01 0.01 0.00878594 0.0239 NA 0.0072 NA 0.0153 0.03 NA 0.0028 NA 0.0173 0.03 0.18 T 0.09 B 0.021 B 0.013 N 0.590 D 1.995 M -0.96 T -1.025 T 0.151 T 0.042 1.206 9.898 1.51 0.092 2.188 6.575 1.206042 NA 0.21 0.026395 0.003631 NA 0.022 NA 12.2657384 435 5 16673975 16673975 C G exonic MYO10 NA nonsynonymous SNV MYO10:NM_012334:exon36:c.G4988C:p.S1663T exonic ENSG00000145555 NA nonsynonymous SNV ENSG00000145555:ENST00000274203:exon18:c.G3059C:p.S1020T,ENSG00000145555:ENST00000427430:exon18:c.G3059C:p.S1020T,ENSG00000145555:ENST00000505695:exon18:c.G3005C:p.S1002T,ENSG00000145555:ENST00000515803:exon18:c.G3005C:p.S1002T,ENSG00000145555:ENST00000513610:exon36:c.G4988C:p.S1663T Score=613;Name=lod=412 NA 5p15.1 Score=893;Name=V$STAT5A_01 NA Name=6 NA rs25901 0.79 0.79 0.778 0.823682 0.666 0.7708 0.8055 0.9849 0.8354 0.67 0.79 0.78 0.97 0.7407 0.97 1 T 0.001 B 0.006 B . . 0.000 P -0.22 N -2.88 D -0.921 T 0.000 T 0.037 0.967 8.947 5.41 1.291 8.033 16.411 0.967253 NA 1 0.669901 0.93447 NA 0.775 NA 12.2567324 435 7 5521468 5521468 G A exonic FBXL18 NA synonymous SNV FBXL18:NM_024963:exon5:c.C2095T:p.L699L exonic ENSG00000155034 NA synonymous SNV ENSG00000155034:ENST00000382368:exon5:c.C2095T:p.L699L Score=563;Name=lod=258 NA 7p22.1 NA NA Name=4 NA rs10951956 0.12 0.12 0.101 0.14996 0.1312 0.0387 0.1844 0.1339 0.2812 0.14 0.03 0.17 0.14 0.1477 0.17 0 D . . . . . . 0.000 P . . . . -1.029 T 0.001 T . 1.35 10.44 3.93 2.384 4.448 5.422 1.349523 1.349523 NA 0.131063 0.135539 NA 0.116 NA 12.2567036 435 8 25222165 25222165 A G exonic DOCK5 NA nonsynonymous SNV DOCK5:NM_024940:exon30:c.A3068G:p.Q1023R exonic ENSG00000147459 NA nonsynonymous SNV ENSG00000147459:ENST00000276440:exon30:c.A3068G:p.Q1023R Score=530;Name=lod=190 NA 8p21.2 Score=805;Name=V$PBX1_02 NA NA NA rs2271111 0.29 0.29 0.252 0.245607 0.3698 0.3562 0.304 0.0711 0.1984 0.38 0.33 0.33 0.08 0.3719 0.38 0.75 T 0.001 B 0.005 B 0.000 D 0.000 P 1.295 L 1.88 T -0.949 T 0.000 T 0.161 1.287 10.21 4.34 2.142 4.300 7.572 1.287145 1.287145 0.73 0.335581 0.110531 ID=COSM150472;OCCURENCE=1(stomach) 0.261 NA 12.2560524 435 21 45391272 45391272 C T exonic AGPAT3 NA nonsynonymous SNV AGPAT3:NM_001037553:exon6:c.C668T:p.A223V,AGPAT3:NM_020132:exon7:c.C668T:p.A223V exonic ENSG00000160216 NA nonsynonymous SNV ENSG00000160216:ENST00000327505:exon6:c.C668T:p.A223V,ENSG00000160216:ENST00000398063:exon6:c.C668T:p.A223V,ENSG00000160216:ENST00000422850:exon6:c.C668T:p.A223V,ENSG00000160216:ENST00000457068:exon6:c.C668T:p.A223V,ENSG00000160216:ENST00000546158:exon6:c.C668T:p.A223V,ENSG00000160216:ENST00000291572:exon7:c.C668T:p.A223V,ENSG00000160216:ENST00000398061:exon7:c.C668T:p.A223V,ENSG00000160216:ENST00000398058:exon8:c.C668T:p.A223V NA NA 21q22.3 NA NA Name=8 NA rs62229686 0.01 0.01 0.009 0.00858626 0.0268 NA 0.0058 0.0008 0.0112 0.02 NA 0.01 NA 0.0243 0.026 0.04 D 0.066 B 0.033 B 0.099 N 1.000 N 0.69 N 0.96 T -0.833 T 0.111 T 0.346 2.011 12.68 4.53 2.084 1.300 17.277 2.010823 2.010823 0.01 0.026512 0.004993 NA 0.007 NA 12.2557214 436 3 108188993 108188993 G A exonic MYH15 NA nonsynonymous SNV MYH15:NM_014981:exon15:c.C1510T:p.H504Y exonic ENSG00000144821 NA nonsynonymous SNV ENSG00000144821:ENST00000273353:exon15:c.C1510T:p.H504Y Score=586;Name=lod=320 NA 3q13.13 NA NA NA NA rs9868484 0.53 0.53 0.524 0.516374 0.7406 0.0218 0.572 0.6876 0.5245 0.76 0.01 0.63 0.71 0.6158 0.76 0 D 0.995 D 0.968 D . . 0.029 P 3.275 M -0.74 T -0.919 T 0.000 T 0.239 2.879 15.59 4.37 0.912 4.767 11.793 2.878614 2.878614 0 0.722521 0.686674 NA 0.551 NA 12.2544124 436 22 24226890 24226890 G A exonic SLC2A11 NA nonsynonymous SNV SLC2A11:NM_001024938:exon12:c.G1345A:p.A449T,SLC2A11:NM_001024939:exon12:c.G1354A:p.A452T,SLC2A11:NM_030807:exon13:c.G1366A:p.A456T exonic ENSG00000133460 NA nonsynonymous SNV ENSG00000133460:ENST00000316185:exon12:c.G1354A:p.A452T,ENSG00000133460:ENST00000345044:exon12:c.G1345A:p.A449T,ENSG00000133460:ENST00000398356:exon13:c.G1366A:p.A456T Score=251;Name=lod=14 NA 22q11.23 NA NA NA NA rs60699980 0.03 0.03 0.036 0.0297524 0.0318 NA 0.0418 0.062 0.0061 0.03 NA 0.04 0.08 0.0248 0.087 0.52 T 0.996 D 0.969 D 0.001 N 1.000 D 1.28 L -0.73 T -0.942 T 0.011 T 0.162 2.93 15.77 1.12 0.407 4.259 8.756 2.930418 2.930418 0.01 0.028721 0.046754 NA 0.058 NA 12.2480124 436 2 178417142 178417142 C T exonic TTC30B NA nonsynonymous SNV TTC30B:NM_152517:exon1:c.G350A:p.R117H exonic ENSG00000196659 NA nonsynonymous SNV ENSG00000196659:ENST00000408939:exon1:c.G350A:p.R117H Score=414;Name=lod=64 NA 2q31.2 NA Name=GATA-2,p300 Name=13 NA rs11694988 0.89 0.89 0.888 0.890575 0.8688 0.9742 0.9121 0.8306 0.8926 0.87 0.99 0.9 0.82 0.8632 0.99 0.12 T 0.944 P 0.416 B 0.000 D 0.001 P 0.755 N -1.21 T -0.995 T 0.000 T 0.252 3.054 16.19 4.3 2.376 3.109 15.472 3.054112 3.054112 0.02 0.854419 0.8468 NA 0.841 NA 12.2469144 436 15 40750740 40750740 A G exonic BAHD1 NA nonsynonymous SNV BAHD1:NM_014952:exon2:c.A77G:p.E26G exonic ENSG00000140320 NA nonsynonymous SNV ENSG00000140320:ENST00000560846:exon1:c.A77G:p.E26G,ENSG00000140320:ENST00000416165:exon2:c.A77G:p.E26G,ENSG00000140320:ENST00000561234:exon2:c.A77G:p.E26G Score=387;Name=lod=50 NA 15q15.1 NA NA NA NA rs3743143 0.05 0.05 0.039 0.0567093 0.0239 0.1399 0.0605 0.0008 0.0777 0.02 0.12 0.05 0.002 0.0425 0.12 0.01 D 0.001 B 0.004 B 0.055 N 0.175 P 0 N 2.0 T -1.097 T 0.001 T 0.331 3.332 17.21 5.14 2.155 2.493 8.418 3.331885 3.331885 0 0.020814 0.007263 NA 0.058 NA 12.2461194 437 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 437 3 9934753 9934753 A G exonic JAGN1 NA nonsynonymous SNV JAGN1:NM_032492:exon2:c.A244G:p.I82V exonic ENSG00000171135 NA nonsynonymous SNV ENSG00000171135:ENST00000307768:exon2:c.A244G:p.I82V Score=461;Name=lod=100 NA 3p25.3 NA Name=USF-1 NA NA rs35365817 0.02 0.02 0.011 0.0131789 0.0368 NA 0.0288 NA 0.0092 0.03 NA 0.03 NA 0.0231 0.035 0.11 T 0.078 B 0.091 B 0.012 N 0.999 D 2.075 M . . -1.010 T 0.076 T 0.049 2.085 12.93 -0.009 -0.231 2.581 5.783 2.084957 2.084957 0.29 0.034884 0.006128 NA 0.022 NA 12.2385494 437 19 52659872 52659872 T C exonic ZNF836 NA nonsynonymous SNV ZNF836:NM_001102657:exon5:c.A1064G:p.E355G exonic ENSG00000196267 NA nonsynonymous SNV ENSG00000196267:ENST00000322146:exon5:c.A1064G:p.E355G,ENSG00000196267:ENST00000597252:exon5:c.A1064G:p.E355G Score=369;Name=lod=42 NA 19q13.41 NA NA NA NA rs61739527 0.01 0.01 0.007 0.0129792 0.0328 NA 0.0159 0.0023 0.0184 0.03 NA 0.02 0.002 0.0257 0.036 0.01 D 0.999 D 0.961 D . . 0.999 N 1.91 M 1.66 T -1.087 T 0.038 T 0.072 1.525 11.05 1.05 0.099 0.903 6.080 1.52492 1.52492 0 0.036288 0.006148 NA 0.007 NA 12.2385454 438 7 6476104 6476104 G A exonic DAGLB NA nonsynonymous SNV DAGLB:NM_001142936:exon3:c.C308T:p.A103V,DAGLB:NM_139179:exon3:c.C308T:p.A103V exonic ENSG00000164535 NA nonsynonymous SNV ENSG00000164535:ENST00000297056:exon3:c.C308T:p.A103V,ENSG00000164535:ENST00000425398:exon3:c.C308T:p.A103V,ENSG00000164535:ENST00000432248:exon3:c.C308T:p.A103V,ENSG00000164535:ENST00000436575:exon3:c.C185T:p.A62V NA NA 7p22.1 NA Name=ELF1_(SC-631) Name=26 NA rs117103601 0.02 0.02 0.023 0.0155751 0.0398 NA 0.0317 NA 0.0164 0.04 NA 0.04 NA 0.0245 0.04 1 T 0.287 B 0.04 B 0.008 N 0.999 N 1.39 L 0.94 T -1.028 T 0.017 T 0.342 0.383 6.078 5.0 1.635 2.356 7.954 0.382635 NA 0.02 0.035 0.005901 ID=COSM1318969;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.065 NA 12.2340334 438 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 438 16 81209247 81209247 C T exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon15:c.G2546A:p.R849H exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000527937:exon3:c.G314A:p.R105H,ENSG00000166473:ENST00000531391:exon4:c.G491A:p.R164H,ENSG00000166473:ENST00000337114:exon15:c.G2546A:p.R849H,ENSG00000269323:ENST00000599697:exon15:c.G2546A:p.R849H NA NA 16q23.2 NA Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194) Name=85 NA rs1869349 0.02 0.02 0.021 0.0151757 0.0358 NA 0.0202 0.0015 0.0245 0.04 NA 0.02 NA 0.0277 0.04 0.15 T 0.015 B 0.007 B 0.211 N 1.000 N . . 1.54 T -1.037 T 0.040 T 0.37 1.677 11.57 -8.12 -2.256 -2.076 4.58 1.677121 1.677121 0.01 0.036096 0.007579 ID=COSM329530,COSM329531,COSM329529;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.065 NA 12.2337374 438 12 89745477 89745477 C A exonic DUSP6 NA nonsynonymous SNV DUSP6:NM_001946:exon1:c.G340T:p.V114L,DUSP6:NM_022652:exon1:c.G340T:p.V114L exonic ENSG00000139318 NA nonsynonymous SNV ENSG00000139318:ENST00000279488:exon1:c.G340T:p.V114L,ENSG00000139318:ENST00000308385:exon1:c.G340T:p.V114L,ENSG00000139318:ENST00000548755:exon2:c.G340T:p.V114L Score=625;Name=lod=462 NA 12q21.33 NA NA Name=32 NA rs2279574 0.51 0.51 0.478 0.466254 0.5557 0.5992 0.4784 0.2753 0.4867 0.57 0.62 0.5 0.29 0.5378 0.62 0.19 T 0.78 P 0.431 B 0.000 D 0.000 P 1.815 L 2.06 T -0.909 T 0.000 T 0.453 3.928 19.99 5.09 2.646 5.812 17.664 3.928481 3.928481 0.06 0.50792 0.282176 NA 0.413 NA 12.2319134 438 11 108032707 108032707 G T exonic NPAT NA nonsynonymous SNV NPAT:NM_002519:exon17:c.C3106A:p.L1036I exonic ENSG00000149308 NA nonsynonymous SNV ENSG00000149308:ENST00000278612:exon17:c.C3106A:p.L1036I NA NA 11q22.3 NA NA Name=7 NA rs35303872 0.03 0.03 0.013 0.0147764 0.0427 NA 0.0375 0.0023 0.002 0.04 NA 0.06 0.01 0.0221 0.06 0.31 T 0.867 P 0.544 P 0.028 N 0.996 N 2.075 M 3.66 T -1.009 T 0.003 T 0.117 1.412 10.66 4.93 1.471 0.460 7.592 1.411638 1.411638 0.04 0.037033 0.006233 NA 0.029 NA 12.2315004 438 7 138312122 138312122 A C exonic SVOPL NA nonsynonymous SNV SVOPL:NM_174959:exon8:c.T698G:p.F233C,SVOPL:NM_001139456:exon11:c.T1154G:p.F385C exonic ENSG00000157703 NA nonsynonymous SNV ENSG00000157703:ENST00000288513:exon7:c.T698G:p.F233C,ENSG00000157703:ENST00000441685:exon7:c.T413G:p.F138C,ENSG00000157703:ENST00000421622:exon8:c.T794G:p.F265C,ENSG00000157703:ENST00000436657:exon8:c.T698G:p.F233C,ENSG00000157703:ENST00000419765:exon11:c.T1154G:p.F385C Score=470;Name=lod=108 NA 7q34 NA NA NA NA rs2305816 0.52 0.52 0.505 0.476438 0.7416 0.3452 0.5187 0.3533 0.4755 0.74 0.31 0.54 0.39 0.6225 0.74 0.25 T 1.0 D 0.983 D 0.000 D 0.000 P 1.82 L -0.86 T -0.878 T 0.000 T 0.519 3.635 18.49 5.61 2.141 4.588 15.809 3.635035 3.635035 0 0.740116 0.40286 NA 0.507 NA 12.2291174 438 7 135269656 135269656 G A exonic NUP205 NA nonsynonymous SNV NUP205:NM_015135:exon8:c.G1119A:p.M373I exonic ENSG00000155561 NA nonsynonymous SNV ENSG00000155561:ENST00000285968:exon8:c.G1119A:p.M373I,ENSG00000155561:ENST00000440390:exon8:c.G501A:p.M167I Score=529;Name=lod=189 NA 7q33 Score=799;Name=V$OLF1_01 NA NA NA rs61459701 0.02 0.02 0.023 0.0351438 0.0467 0.003 0.049 0.0333 0.0491 0.03 0.0035 0.04 0.02 0.0331 0.04 0.4 T 0.0 B 0.0 B 0.000 D 1.000 N 0 N 1.59 T -1.035 T 0.007 T 0.047 1.699 11.64 -6.05 -0.903 -1.195 10.812 1.698742 1.698742 0.16 0.02593 0.024739 NA NA NA 12.2276034 438 7 5530954 5530954 G A exonic FBXL18 NA synonymous SNV FBXL18:NM_024963:exon4:c.C1908T:p.F636F exonic ENSG00000155034 NA synonymous SNV ENSG00000155034:ENST00000382368:exon4:c.C1908T:p.F636F,ENSG00000155034:ENST00000415009:exon4:c.C1908T:p.F636F,ENSG00000155034:ENST00000453700:exon4:c.C1908T:p.F636F Score=450;Name=lod=90 NA 7p22.1 Score=743;Name=V$MYOGNF1_01 NA NA NA rs11975313 0.15 0.15 0.137 0.179712 0.1392 0.0377 0.2061 0.2685 0.229 0.14 0.04 0.18 0.25 0.1703 0.25 0 D . . . . . . 0.000 P . . . . -1.050 T 0.000 T . -0.323 2.467 4.01 1.041 3.304 8.096 -0.32273 NA NA 0.129717 0.247637 NA 0.167 NA 12.2274496 439 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 439 11 67186271 67186271 C A exonic CARNS1 NA nonsynonymous SNV CARNS1:NM_020811:exon4:c.C40A:p.P14T,CARNS1:NM_001166222:exon5:c.C409A:p.P137T exonic ENSG00000172508 NA nonsynonymous SNV ENSG00000172508:ENST00000307823:exon4:c.C40A:p.P14T,ENSG00000172508:ENST00000445895:exon4:c.C409A:p.P137T,ENSG00000172508:ENST00000423745:exon5:c.C40A:p.P14T,ENSG00000172508:ENST00000531040:exon5:c.C409A:p.P137T Score=482;Name=lod=121 NA 11q13.2 NA NA NA NA rs868167 0.15 0.15 0.141 0.177117 0.005 0.0288 0.2983 0.4887 NA 0.01 0.03 0.22 0.46 0.1017 0.46 0.03 D 0.9 P 0.466 P . . 0.000 P 0.55 N 1.24 T -0.914 T 0.000 T 0.263 2.405 14 3.03 0.843 1.492 12.112 2.404566 2.404566 0 0.006547 0.376875 NA 0.167 NA 12.2200864 439 12 1137217 1137217 A G exonic ERC1 NA nonsynonymous SNV ERC1:NM_178039:exon2:c.A148G:p.S50G,ERC1:NM_178040:exon2:c.A148G:p.S50G exonic ENSG00000082805 NA nonsynonymous SNV ENSG00000082805:ENST00000355446:exon1:c.A148G:p.S50G,ENSG00000082805:ENST00000589028:exon1:c.A148G:p.S50G,ENSG00000082805:ENST00000347735:exon2:c.A148G:p.S50G,ENSG00000082805:ENST00000360905:exon2:c.A148G:p.S50G,ENSG00000082805:ENST00000397203:exon2:c.A148G:p.S50G,ENSG00000082805:ENST00000440394:exon2:c.A148G:p.S50G,ENSG00000082805:ENST00000543086:exon2:c.A148G:p.S50G,ENSG00000082805:ENST00000545318:exon2:c.A148G:p.S50G,ENSG00000082805:ENST00000545948:exon2:c.A148G:p.S50G,ENSG00000082805:ENST00000542302:exon3:c.A148G:p.S50G,ENSG00000082805:ENST00000546231:exon3:c.A148G:p.S50G,ENSG00000082805:ENST00000589132:exon3:c.A148G:p.S50G Score=663;Name=lod=660 NA 12p13.33 Score=1000;Name=V$AP2REP_01 NA NA NA rs35037408 0.02 0.02 0.019 0.0159744 0.0437 NA 0.0303 0.0015 0.0133 0.04 NA 0.04 0.0041 0.0268 0.043 0.3 T 0.0 B 0.0 B 0.000 N 0.936 D -0.55 N -2.35 D -0.930 T 0.104 T 0.087 2.311 13.69 -0.433 -0.077 2.889 9.979 2.311319 2.311319 0.18 0.042791 0.008398 NA 0.029 NA 12.2200424 439 2 200813126 200813126 T C exonic TYW5 NA nonsynonymous SNV TYW5:NM_001039693:exon2:c.A148G:p.S50G exonic ENSG00000162971 NA nonsynonymous SNV ENSG00000162971:ENST00000354611:exon2:c.A148G:p.S50G,ENSG00000162971:ENST00000441832:exon2:c.A148G:p.S50G,ENSG00000162971:ENST00000483328:exon2:c.A148G:p.S50G Score=475;Name=lod=114 NA 2q33.1 Score=852;Name=V$CEBP_C NA NA NA rs10497844 0.06 0.06 0.062 0.0748802 0.0258 0.1508 0.0893 0.0023 0.135 0.02 0.17 0.06 0.002 0.0559 0.17 0.37 T 0.2 B 0.052 B 0.013 U 0.000 P 2.175 M -0.57 T -1.012 T 0.001 T 0.232 1.666 11.53 4.94 2.066 0.606 14.750 1.666402 1.666402 0.03 0.03503 0.008971 NA 0.029 NA 12.2166034 439 1 180905263 180905263 C T exonic KIAA1614 NA nonsynonymous SNV KIAA1614:NM_020950:exon5:c.C2218T:p.R740W exonic ENSG00000135835 NA nonsynonymous SNV ENSG00000135835:ENST00000367587:exon2:c.C1081T:p.R361W,ENSG00000135835:ENST00000367588:exon5:c.C2218T:p.R740W NA NA 1q25.3 NA NA NA NA rs17302207 0.02 0.02 0.018 0.0233626 0.0358 NA 0.0692 0.003 0.0297 0.04 NA 0.04 0.01 0.0392 0.042 0.01 D 0.0 B 0.0 B 0.049 N 0.907 D 0.46 N 2.48 T -1.034 T 0.009 T 0.035 1.48 10.9 -8.65 -2.123 -3.418 5.955 1.480064 1.480064 0 0.041736 0.011166 NA 0.014 NA 12.2165974 439 11 34910397 34910397 C T exonic APIP NA nonsynonymous SNV APIP:NM_015957:exon4:c.G227A:p.C76Y exonic ENSG00000149089 NA nonsynonymous SNV ENSG00000149089:ENST00000532428:exon2:c.G86A:p.C29Y,ENSG00000149089:ENST00000395787:exon4:c.G227A:p.C76Y,ENSG00000149089:ENST00000278359:exon5:c.G278A:p.C93Y Score=592;Name=lod=338 NA 11p13 Score=933;Name=V$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 440 19 7992976 7992976 T C exonic TIMM44 NA nonsynonymous SNV TIMM44:NM_006351:exon11:c.A1114G:p.I372V exonic ENSG00000104980 NA nonsynonymous SNV ENSG00000104980:ENST00000270538:exon11:c.A1114G:p.I372V Score=483;Name=lod=122 NA 19p13.2 NA NA Name=4 NA rs11542187 0.02 0.02 0.02 0.0141773 0.0467 NA 0.0245 0.0008 0.0061 0.05 NA 0.03 NA 0.0308 0.05 0.18 T 0.002 B 0.012 B 0.000 N 1.000 D 1.71 L -1.28 T -0.880 T 0.085 T 0.143 0.571 7.084 2.55 0.191 3.409 6.007 0.570735 NA 0.13 0.044767 0.008398 NA NA NA 12.2110664 440 17 38175866 38175866 G A exonic MED24 NA synonymous SNV MED24:NM_001079518:exon25:c.C2847T:p.S949S,MED24:NM_001267797:exon25:c.C2847T:p.S949S,MED24:NM_014815:exon26:c.C2886T:p.S962S exonic ENSG00000008838 NA synonymous SNV ENSG00000008838:ENST00000422942:exon7:c.C795T:p.S265S,ENSG00000008838:ENST00000356271:exon25:c.C2847T:p.S949S,ENSG00000008838:ENST00000394126:exon25:c.C2961T:p.S987S,ENSG00000008838:ENST00000394127:exon25:c.C2847T:p.S949S,ENSG00000008838:ENST00000394128:exon26:c.C2886T:p.S962S,ENSG00000008838:ENST00000501516:exon26:c.C2943T:p.S981S Score=653;Name=lod=599 NA 17q21.1 NA Name=CTCF,c-Fos Name=3 NA rs11555254 0.12 0.12 0.128 0.111222 0.162 0.006 0.1225 0.1762 0.0716 0.17 0.01 0.13 0.18 0.1342 0.18 . . . . . . . . 0.000 P . . . . . . . . . 1.484 10.91 4.09 2.506 3.006 14.422 1.48446 1.48446 NA 0.163372 0.181117 NA 0.181 NA 12.2070946 441 1 147091972 147091972 C T exonic BCL9 NA nonsynonymous SNV BCL9:NM_004326:exon8:c.C2011T:p.P671S exonic ENSG00000116128 NA nonsynonymous SNV ENSG00000116128:ENST00000234739:exon8:c.C2011T:p.P671S Score=483;Name=lod=123 NA 1q21.2 Score=788;Name=V$MYCMAX_03 NA NA NA rs3820129 0.22 0.22 0.202 0.181909 0.4125 0.0982 0.2061 0.0227 0.229 0.43 0.08 0.25 0.02 0.3143 0.43 0.04 D 0.079 B 0.037 B 0.000 N 0.000 P 0.975 L 0.53 T -1.031 T 0.065 T 0.066 3.077 16.27 3.92 1.263 5.929 13.156 3.07706 3.07706 NA 0.401977 0.089424 NA 0.333 NA 12.2045564 441 14 31099738 31099738 A G exonic SCFD1 NA nonsynonymous SNV SCFD1:NM_016106:exon3:c.A188G:p.K63R exonic ENSG00000092108 NA nonsynonymous SNV ENSG00000092108:ENST00000311943:exon3:c.A188G:p.K63R,ENSG00000092108:ENST00000458591:exon3:c.A188G:p.K63R,ENSG00000092108:ENST00000555259:exon3:c.A188G:p.K63R,ENSG00000092108:ENST00000556768:exon3:c.A188G:p.K63R,ENSG00000092108:ENST00000557076:exon3:c.A113G:p.K38R,ENSG00000092108:ENST00000557713:exon3:c.A113G:p.K38R Score=655;Name=lod=611 NA 14q12 NA Name=MafK_(ab50322),MafF_(M8194),MafK_(SC-477) NA NA rs229150 0.56 0.56 0.593 0.577676 0.3608 0.7103 0.5029 0.7935 0.4254 0.34 0.71 0.47 0.79 0.4326 0.79 0.14 T 0.023 B 0.155 B 0.000 D 0.000 P 1.545 L 1.55 T -1.012 T 0.000 T 0.424 2.854 15.51 5.6 2.129 8.719 15.786 2.853519 2.853519 0.11 0.34194 0.708806 ID=COSM432987;OCCURENCE=1(breast) 0.507 NA 12.1979934 441 6 43418528 43418528 C T exonic DLK2 NA nonsynonymous SNV DLK2:NM_023932:exon6:c.G901A:p.G301R,DLK2:NM_206539:exon6:c.G901A:p.G301R exonic ENSG00000171462 NA nonsynonymous SNV ENSG00000171462:ENST00000357338:exon6:c.G901A:p.G301R,ENSG00000171462:ENST00000372485:exon6:c.G883A:p.G295R,ENSG00000171462:ENST00000372488:exon6:c.G901A:p.G301R,ENSG00000171462:ENST00000414245:exon6:c.G883A:p.G295R Score=329;Name=lod=29 NA 6p21.1 NA NA NA NA rs35192247 0.02 0.02 0.012 0.0199681 0.0507 NA 0.0202 0.0121 0.0194 0.05 NA 0.02 0.01 0.0358 0.051 0.39 T 0.011 B 0.009 B 0.003 N 1.000 D 0.805 L -2.52 D -0.751 T 0.290 T 0.479 2.655 14.84 3.3 0.546 2.096 9.114 2.65542 2.65542 0.08 0.050465 0.013391 NA 0.007 NA 12.1963684 442 16 57957216 57957216 A G exonic CNGB1 NA nonsynonymous SNV CNGB1:NM_001297:exon18:c.T1604C:p.V535A exonic ENSG00000070729 NA nonsynonymous SNV ENSG00000070729:ENST00000251102:exon18:c.T1604C:p.V535A,ENSG00000070729:ENST00000564448:exon18:c.T1586C:p.V529A NA NA 16q21 Score=848;Name=V$RFX1_01 NA NA NA rs12927214 0.05 0.05 0.039 0.0493211 0.0447 0.0139 0.049 0.0998 0.0225 0.04 0.01 0.07 0.09 0.0465 0.09 0.15 T 0.287 B 0.085 B 0.057 N 1.000 N 1.935 M 2.07 T -1.059 T 0.002 T 0.125 0.802 8.22 2.76 0.401 1.614 6.096 0.802301 NA 0.37 0.049928 0.086121 NA 0.014 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086947.1;CLNDSDB=.;CLNDSDBID=. 12.1922054 442 2 74489318 74489318 G A exonic SLC4A5 NA nonsynonymous SNV SLC4A5:NM_021196:exon6:c.C757T:p.H253Y,SLC4A5:NM_133478:exon11:c.C757T:p.H253Y exonic ENSG00000188687 NA nonsynonymous SNV ENSG00000188687:ENST00000357822:exon6:c.C757T:p.H253Y,ENSG00000188687:ENST00000358683:exon6:c.C565T:p.H189Y,ENSG00000188687:ENST00000377632:exon6:c.C757T:p.H253Y,ENSG00000188687:ENST00000425249:exon8:c.C757T:p.H253Y,ENSG00000188687:ENST00000359484:exon10:c.C565T:p.H189Y,ENSG00000188687:ENST00000346834:exon11:c.C757T:p.H253Y,ENSG00000188687:ENST00000377634:exon11:c.C757T:p.H253Y,ENSG00000188687:ENST00000394019:exon11:c.C757T:p.H253Y,ENSG00000188687:ENST00000423644:exon11:c.C757T:p.H253Y Score=355;Name=lod=37 NA 2p13.1 NA NA NA NA rs55651232 0.06 0.06 0.044 0.0505192 0.0417 0.1062 0.0346 0.0136 0.0634 0.04 0.13 0.03 0.02 0.0504 0.13 1 T 0.947 P 0.558 P 0.344 N 0.868 P 0.895 L -0.26 T -1.021 T 0.003 T 0.192 1.143 9.658 4.42 2.286 4.471 12.409 1.143298 NA 0.05 0.049535 0.014753 NA 0.109 NA 12.1916984 442 22 43623395 43623395 C G exonic SCUBE1 NA nonsynonymous SNV SCUBE1:NM_173050:exon10:c.G1192C:p.G398R exonic ENSG00000159307 NA nonsynonymous SNV ENSG00000159307:ENST00000360835:exon10:c.G1192C:p.G398R Score=497;Name=lod=140 NA 22q13.2 NA Name=Egr-1 Name=18 NA rs129415 0.7 0.7 0.711 0.736621 0.7237 0.5377 0.6527 0.9297 0.7536 0.72 0.52 0.65 0.91 0.7134 0.91 0.67 T 0.0 B 0.009 B 0.001 N 0.000 P 1.235 L -2.5 D -0.978 T 0.000 T 0.039 0.528 6.861 -7.04 -1.366 2.953 11.048 0.528224 NA 0.43 0.705116 0.902361 NA 0.826 NA 12.1911174 442 5 149772280 149772280 C G exonic TCOF1 NA nonsynonymous SNV TCOF1:NM_000356:exon21:c.C3296G:p.P1099R,TCOF1:NM_001135244:exon21:c.C3416G:p.P1139R,TCOF1:NM_001135245:exon21:c.C3299G:p.P1100R,TCOF1:NM_001195141:exon21:c.C3413G:p.P1138R,TCOF1:NM_001135243:exon22:c.C3527G:p.P1176R exonic ENSG00000070814 NA nonsynonymous SNV ENSG00000070814:ENST00000323668:exon21:c.C3296G:p.P1099R,ENSG00000070814:ENST00000427724:exon21:c.C3413G:p.P1138R,ENSG00000070814:ENST00000439160:exon21:c.C3416G:p.P1139R,ENSG00000070814:ENST00000445265:exon21:c.C3299G:p.P1100R,ENSG00000070814:ENST00000377797:exon22:c.C3530G:p.P1177R,ENSG00000070814:ENST00000504761:exon22:c.C3527G:p.P1176R,ENSG00000070814:ENST00000513346:exon22:c.C3527G:p.P1176R,ENSG00000070814:ENST00000451292:exon23:c.C3638G:p.P1213R NA NA 5q32 NA Name=Pol2-4H8 NA NA rs1136103 0.11 0.11 0.094 0.0814696 0.2396 0.001 0.1282 0.0076 0.0685 0.25 NA 0.12 0.01 0.1709 0.25 0.05 D 0.997 D 0.88 P 0.400 N 1.000 P 0.895 L 0.42 T -1.074 T 0.000 T 0.383 3.513 17.94 2.57 0.246 0.723 7.322 3.512605 3.512605 0.01 0.234651 0.04562 NA 0.174 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118612.2;CLNDSDB=.;CLNDSDBID=. 12.1881824 443 1 17660499 17660499 G C exonic PADI4 NA nonsynonymous SNV PADI4:NM_012387:exon3:c.G335C:p.G112A exonic ENSG00000159339 NA nonsynonymous SNV ENSG00000159339:ENST00000375448:exon3:c.G335C:p.G112A,ENSG00000159339:ENST00000375453:exon3:c.G335C:p.G112A Score=378;Name=lod=46 NA 1p36.13 Score=933;Name=V$PAX4_03 NA NA NA rs874881 0.51 0.51 0.499 0.521965 0.5537 0.5585 0.5403 0.4607 0.5215 0.54 0.55 0.51 0.41 0.5462 0.55 0.66 T 0.639 P 0.19 B 0.001 D 0.290 P 1.35 L 3.16 T -1.027 T 0.000 T 0.3 1.356 10.46 4.74 2.339 3.212 13.600 1.355764 1.355764 0.42 0.55093 0.486382 NA 0.435 NA 12.1825034 443 10 115805056 115805056 G C exonic ADRB1 NA nonsynonymous SNV ADRB1:NM_000684:exon1:c.G1165C:p.G389R exonic ENSG00000043591 NA nonsynonymous SNV ENSG00000043591:ENST00000369295:exon1:c.G1165C:p.G389R Score=747;Name=lod=1448 Name=Birth weight 10q25.3 Score=679;Name=V$P53_01 Name=Max,ELF1_(SC-631) Name=23 NA rs1801253 0.7 0.7 0.653 0.701677 0.6849 0.7877 0.8055 0.5703 0.7342 0.66 0.79 0.79 0.6 0.736 0.79 1 T . . . . 0.000 N 1.000 P . . 1.43 T -0.959 T 0.000 T 0.072 -2.005 0.007 1.68 0.214 1.478 7.000 -2.004737 NA 1 0.736429 0.627446 NA NA CLINSIG=drug-response;CLNDBN=Congestive_heart_failure_and_beta-blocker_response\x2c_modifier_of;CLNREVSTAT=single;CLNACC=RCV000019322.1;CLNDSDB=.;CLNDSDBID=. 12.1760044 443 19 4288332 4288332 A G exonic SHD NA nonsynonymous SNV SHD:NM_020209:exon5:c.A809G:p.N270S exonic ENSG00000105251 NA nonsynonymous SNV ENSG00000105251:ENST00000543264:exon5:c.A809G:p.N270S Score=586;Name=lod=321 NA 19p13.3 NA Name=eGFP-FOS,FOSL1_(SC-183),c-Jun Name=12 NA rs888930 0.46 0.46 0.458 0.484026 0.3787 0.3393 0.5591 0.6203 0.5041 0.38 0.35 0.54 0.67 0.412 0.67 1 T 0.0 B 0.001 B 0.001 N 1.000 P -0.65 N -2.33 D -0.949 T 0.000 T 0.013 0.556 7.008 3.99 0.738 5.276 9.405 0.556285 NA 1 0.366744 0.575125 ID=COSM148460;OCCURENCE=2(breast),1(stomach) 0.594 NA 12.1758894 443 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 443 1 43201614 43201614 C T exonic CLDN19 NA nonsynonymous SNV CLDN19:NM_001185117:exon3:c.G476A:p.R159Q exonic ENSG00000164007 NA nonsynonymous SNV ENSG00000164007:ENST00000539749:exon3:c.G476A:p.R159Q NA NA 1p34.2 NA NA NA NA rs9660973 0.04 0.04 0.051 0.0519169 0.0398 0.001 0.0389 0.1006 0.0603 0.04 NA 0.05 0.1 0.0772 0.1 0.01 D 0.003 B 0.001 B . . 0.985 N . . -2.15 D -0.901 T 0.019 T . 1.664 11.52 -8.62 -3.151 -2.658 2.721 1.664047 1.664047 NA 0.040966 0.090411 NA 0.051 NA 12.1753674 444 2 33764176 33764176 A G exonic RASGRP3 NA nonsynonymous SNV RASGRP3:NM_015376:exon11:c.A1174G:p.T392A,RASGRP3:NM_001139488:exon12:c.A1177G:p.T393A,RASGRP3:NM_170672:exon13:c.A1177G:p.T393A exonic ENSG00000152689 NA nonsynonymous SNV ENSG00000152689:ENST00000419772:exon3:c.A304G:p.T102A,ENSG00000152689:ENST00000407811:exon11:c.A1174G:p.T392A,ENSG00000152689:ENST00000403687:exon12:c.A1177G:p.T393A,ENSG00000152689:ENST00000402538:exon13:c.A1177G:p.T393A Score=459;Name=lod=98 NA 2p22.3 NA NA NA NA rs13388394 0.04 0.04 0.017 0.052516 0.0408 0.006 0.1585 0.0053 0.1012 0.04 0.01 0.12 0.01 0.0756 0.12 0.51 T 0.131 B 0.145 B 0.000 D 0.005 P 1.245 L 1.16 T -1.065 T 0.002 T 0.262 1.885 12.26 5.8 2.209 7.011 16.142 1.885066 1.885066 0.47 0.043011 0.011141 NA 0.043 NA 12.1739224 444 17 56492800 56492800 T C exonic RNF43 NA nonsynonymous SNV RNF43:NM_017763:exon2:c.A139G:p.I47V exonic ENSG00000108375 NA nonsynonymous SNV ENSG00000108375:ENST00000583753:exon1:c.A139G:p.I47V,ENSG00000108375:ENST00000584437:exon1:c.A139G:p.I47V,ENSG00000108375:ENST00000407977:exon2:c.A139G:p.I47V,ENSG00000108375:ENST00000500597:exon2:c.A139G:p.I47V,ENSG00000108375:ENST00000577716:exon2:c.A139G:p.I47V Score=678;Name=lod=762 NA 17q22 NA Name=Rad21,TCF4,Sin3Ak-20,TBP,Pol2,CTCF,EBF1_(C-8),TAF1,HEY1 Name=18 NA rs3744093 0.39 0.39 0.369 0.373802 0.3718 0.5258 0.5317 0.1694 0.3834 0.37 0.52 0.51 0.19 0.4048 0.52 0.49 T 0.002 B 0.003 B 0.069 N 0.000 P 0.345 N 3.24 T -0.954 T 0.000 T 0.057 0.992 9.051 3.19 0.973 1.086 6.236 0.992132 NA 0.97 0.385116 0.217431 NA 0.348 NA 12.1716174 444 16 77359919 77359919 A T exonic ADAMTS18 NA nonsynonymous SNV ADAMTS18:NM_199355:exon13:c.T1876A:p.L626I exonic ENSG00000140873 NA nonsynonymous SNV ENSG00000140873:ENST00000282849:exon13:c.T1876A:p.L626I Score=538;Name=lod=204 NA 16q23.1 NA NA NA NA rs11640912 0.47 0.47 0.418 0.439497 0.3618 0.8681 0.5562 0.146 0.3916 0.36 0.86 0.54 0.15 0.4263 0.86 0 D 0.015 B 0.006 B 0.000 D 1.000 P 1.015 L 3.89 T -1.056 T 0.000 T 0.039 3.138 16.49 4.83 1.087 4.234 8.640 3.137533 3.137533 0 0.376628 0.205869 NA 0.246 NA 12.1686054 444 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 445 11 7507182 7507182 A G exonic OLFML1 NA nonsynonymous SNV OLFML1:NM_198474:exon1:c.A76G:p.T26A exonic ENSG00000183801 NA nonsynonymous SNV ENSG00000183801:ENST00000329293:exon1:c.A76G:p.T26A,ENSG00000183801:ENST00000528758:exon1:c.A76G:p.T26A,ENSG00000183801:ENST00000534244:exon1:c.A76G:p.T26A,ENSG00000183801:ENST00000530135:exon2:c.A76G:p.T26A Score=363;Name=lod=40 NA 11p15.4 NA NA NA NA rs118163706 0.02 0.02 0.018 0.0159744 0.0517 NA 0.0115 0.0053 0.0133 0.05 NA 0.02 0.01 0.0502 0.069 1 T 0.0 B 0.0 B 0.003 N 1.000 N -1.995 N -2.15 D -0.963 T 0.020 T 0.192 0.306 5.656 5.59 1.377 1.491 10.703 0.305689 NA 1 0.069018 0.016129 NA 0.065 NA 12.1624154 445 15 55789910 55789910 C T exonic DYX1C1 NA nonsynonymous SNV DYX1C1:NM_001033559:exon3:c.G271A:p.V91I,DYX1C1:NM_001033560:exon3:c.G271A:p.V91I,DYX1C1:NM_130810:exon3:c.G271A:p.V91I exonic ENSG00000256061 NA nonsynonymous SNV ENSG00000256061:ENST00000448430:exon2:c.G271A:p.V91I,ENSG00000256061:ENST00000457155:exon2:c.G271A:p.V91I,ENSG00000256061:ENST00000524160:exon2:c.G271A:p.V91I,ENSG00000256061:ENST00000321149:exon3:c.G271A:p.V91I,ENSG00000256061:ENST00000348518:exon3:c.G271A:p.V91I,ENSG00000256061:ENST00000380679:exon3:c.G271A:p.V91I Score=371;Name=lod=43 NA 15q21.3 NA NA NA NA rs17819126 0.02 0.02 0.018 0.0219649 0.0596 NA 0.0245 0.0053 0.0266 0.05 NA 0.02 0.0041 0.0481 0.07 . . 0.015 B 0.018 B 0.008 U 0.657 D 0.55 N 1.57 T -1.058 T 0.004 T 0.184 1.365 10.49 4.72 2.450 1.565 10.073 1.364727 1.364727 0.27 0.070014 0.01368 NA 0.014 NA 12.1556194 446 1 234603322 234603322 A T exonic TARBP1 NA nonsynonymous SNV TARBP1:NM_005646:exon4:c.T1174A:p.S392T exonic ENSG00000059588 NA nonsynonymous SNV ENSG00000059588:ENST00000040877:exon4:c.T1174A:p.S392T Score=545;Name=lod=219 NA 1q42.2 NA Name=FOXA1_(C-20),GATA3_(SC-268) Name=5 NA rs60079444 0.14 0.14 0.124 0.167931 0.0358 0.2609 0.2147 0.0983 0.2689 0.04 0.27 0.21 0.1 0.106 0.27 0.58 T 0.0 B 0.0 B 0.004 N 1.000 P -1.245 N 3.55 T -0.937 T 0.000 T 0.023 -0.374 2.241 2.75 0.149 1.501 4.429 -0.373788 NA 0.46 0.03814 0.090331 NA 0.152 NA 12.1533934 446 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,CTCF_(SC-5916) 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 446 19 45150614 45150614 G A exonic PVR NA nonsynonymous SNV PVR:NM_001135768:exon2:c.G199A:p.A67T,PVR:NM_001135769:exon2:c.G199A:p.A67T,PVR:NM_001135770:exon2:c.G199A:p.A67T,PVR:NM_006505:exon2:c.G199A:p.A67T exonic ENSG00000073008 NA nonsynonymous SNV ENSG00000073008:ENST00000187830:exon2:c.G122A:p.G41D,ENSG00000073008:ENST00000344956:exon2:c.G199A:p.A67T,ENSG00000073008:ENST00000403059:exon2:c.G199A:p.A67T,ENSG00000073008:ENST00000406449:exon2:c.G199A:p.A67T,ENSG00000073008:ENST00000425690:exon2:c.G199A:p.A67T NA NA 19q13.31 NA Name=Pol2 Name=9 NA rs1058402 0.08 0.08 0.08 0.102236 0.0427 0.126 0.1023 0.0696 0.183 0.04 0.15 0.1 0.05 0.09 0.15 1 T 0.0 B 0.008 B 0.005 N 1.000 P -1.655 N -0.12 T -1.097 T 0.000 T 0.055 -0.364 2.285 -9.59 -1.950 -1.252 4.553 -0.363833 NA 1 0.048605 0.061961 NA 0.036 NA 12.1520284 446 5 148206440 148206440 G A exonic ADRB2 NA nonsynonymous SNV ADRB2:NM_000024:exon1:c.G46A:p.G16R exonic ENSG00000169252 NA nonsynonymous SNV ENSG00000169252:ENST00000305988:exon1:c.G46A:p.G16R NA NA 5q32 Score=825;Name=V$COMP1_01 NA Name=10 NA rs1042713 0.47 0.47 0.44 0.475639 0.3857 0.5486 0.4568 0.5204 0.4458 0.38 0.54 0.47 0.53 0.4204 0.54 0.46 T 0.043 B 0.032 B 0.749 N 1.000 P 0.695 N -0.17 T -0.920 T 0.000 T 0.326 0.58 7.133 3.73 2.583 1.131 8.214 0.580326 NA 0.16 0.377791 0.48729 NA 0.37 CLINSIG=other|other;CLNDBN=Asthma\x2c_nocturnal\x2c_susceptibility_to|Metabolic_syndrome\x2c_susceptibility_to;CLNREVSTAT=single|single;CLNACC=RCV000019316.1|RCV000019317.1;CLNDSDB=.|.;CLNDSDBID=.|. 12.1494424 446 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$HEN1_02 Name=Pol2,Pol2(b) Name=28 NA rs11549690 0.03 0.03 0.018 0.0209665 0.0646 NA 0.0476 0.003 0.0031 0.06 NA 0.05 NA 0.0506 0.073 0.01 D 0.083 B 0.026 B 0.351 N 0.969 N 0.975 L 1.88 T -1.084 T 0.009 T 0.413 0.907 8.688 1.97 0.688 1.659 8.363 0.906698 NA 0 0.073074 0.01522 NA 0.014 NA 12.1450594 447 17 15406197 15406197 A T exonic TVP23C NA nonsynonymous SNV TVP23C:NM_145301:exon6:c.T812A:p.L271Q exonic ENSG00000175106 NA nonsynonymous SNV ENSG00000175106:ENST00000225576:exon6:c.T812A:p.L271Q NA NA 17p12 Score=879;Name=V$HAND1E47_01 Name=CTCF_(SC-5916),Znf143_(16618-1-AP),CTCF,PU.1,SMC3_(ab9263),Rad21,YY1_(C-20) Name=135 NA rs12150518 0.04 0.04 0.032 0.0307508 0.0666 0.0218 0.0389 0.0038 0.0337 0.08 0.01 0.05 0.0041 0.0535 0.08 0 D 0.034 B 0.007 B . . 0.730 D 0 N 1.51 T -1.019 T 0.002 T 0.103 0.724 7.851 -1.86 -0.437 0.065 0.333 0.723912 NA 0 0.071395 0.014986 NA 0.022 NA 12.1418384 447 15 40914177 40914177 T C exonic CASC5 NA nonsynonymous SNV CASC5:NM_144508:exon10:c.T1715C:p.M572T,CASC5:NM_170589:exon11:c.T1793C:p.M598T exonic ENSG00000137812 NA nonsynonymous SNV ENSG00000137812:ENST00000399668:exon10:c.T1715C:p.M572T,ENSG00000137812:ENST00000346991:exon11:c.T1793C:p.M598T Score=397;Name=lod=55 NA 15q15.1 Score=796;Name=V$POU3F2_01 NA NA NA rs11858113 0.35 0.35 0.338 0.351438 0.3986 0.254 0.3285 0.3495 0.4223 0.42 0.25 0.34 0.36 0.3924 0.42 0.15 T 0.884 P 0.586 P 0.085 N 0.000 P 2.25 M 2.16 T -0.938 T 0.000 T 0.096 0.463 6.513 0.769 -0.322 1.324 6.548 0.462849 NA 0.21 0.402311 0.367647 NA 0.377 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116561.1;CLNDSDB=.;CLNDSDBID=. 12.1400224 447 11 18743180 18743180 C G exonic IGSF22 NA nonsynonymous SNV IGSF22:NM_173588:exon4:c.G280C:p.A94P exonic ENSG00000179057 NA nonsynonymous SNV ENSG00000179057:ENST00000319338:exon4:c.G280C:p.A94P,ENSG00000179057:ENST00000513874:exon4:c.G280C:p.A94P Score=381;Name=lod=47 NA 11p15.1 Score=880;Name=V$NFKAPPAB50_01 Name=CTCF,CTCF_(C-20),Rad21 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 447 3 52721305 52721305 G A exonic GNL3 NA nonsynonymous SNV GNL3:NM_014366:exon3:c.G116A:p.R39Q,GNL3:NM_206825:exon3:c.G80A:p.R27Q,GNL3:NM_206826:exon3:c.G80A:p.R27Q exonic ENSG00000163938 NA nonsynonymous SNV ENSG00000163938:ENST00000394799:exon3:c.G80A:p.R27Q,ENSG00000163938:ENST00000418458:exon3:c.G116A:p.R39Q,ENSG00000163938:ENST00000474423:exon3:c.G80A:p.R27Q,ENSG00000163938:ENST00000479230:exon3:c.G80A:p.R27Q,ENSG00000163938:ENST00000492349:exon3:c.G116A:p.R39Q Score=527;Name=lod=184 Name=Osteoarthritis 3p21.1 Score=878;Name=V$RORA1_01 Name=ZNF263 Name=3 NA rs11177 0.39 0.39 0.356 0.311901 0.4175 0.4236 0.4582 0.1467 0.2076 0.42 0.48 0.47 0.16 0.3749 0.48 0.53 T 0.064 B 0.015 B 0.002 N 0.695 P 0.69 N 0.99 T -0.901 T 0.000 T 0.191 2.361 13.85 1.92 0.346 2.766 8.986 2.361061 2.361061 0.12 0.402907 0.172719 NA 0.225 NA 12.1380264 447 2 179629461 179629461 C T exonic TTN NA nonsynonymous SNV TTN:NM_003319:exon41:c.G9643A:p.V3215M,TTN:NM_133432:exon41:c.G9643A:p.V3215M,TTN:NM_133437:exon41:c.G9643A:p.V3215M,TTN:NM_001256850:exon42:c.G9781A:p.V3261M,TTN:NM_001267550:exon42:c.G9781A:p.V3261M,TTN:NM_133378:exon42:c.G9781A:p.V3261M,TTN:NM_133379:exon42:c.G9781A:p.V3261M exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000342175:exon41:c.G9643A:p.V3215M,ENSG00000155657:ENST00000359218:exon41:c.G9643A:p.V3215M,ENSG00000155657:ENST00000460472:exon41:c.G9643A:p.V3215M,ENSG00000155657:ENST00000342992:exon42:c.G9781A:p.V3261M,ENSG00000155657:ENST00000360870:exon42:c.G9781A:p.V3261M,ENSG00000155657:ENST00000589042:exon42:c.G9781A:p.V3261M,ENSG00000155657:ENST00000591111:exon42:c.G9781A:p.V3261M Score=333;Name=lod=30 NA 2q31.2 NA NA NA NA rs2291311 0.84 0.84 0.846 0.804912 0.9145 0.7847 0.6671 0.8253 0.7832 0.92 0.78 0.77 0.84 0.85 0.93 0 D 0.999 D 0.871 P . . 0.999 P 1.49 L -0.25 T -1.065 T 0.000 T 0.334 2.152 13.15 4.82 1.423 1.093 11.614 2.152216 2.152216 0.24 0.932209 0.826827 NA 0.884 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040961.3|RCV000126041.1;CLNDSDB=.|.;CLNDSDBID=.|. 12.1366244 447 10 113935379 113935379 T C exonic GPAM NA nonsynonymous SNV GPAM:NM_001244949:exon6:c.A392G:p.E131G,GPAM:NM_020918:exon6:c.A392G:p.E131G exonic ENSG00000119927 NA nonsynonymous SNV ENSG00000119927:ENST00000348367:exon6:c.A392G:p.E131G,ENSG00000119927:ENST00000369425:exon6:c.A392G:p.E131G,ENSG00000119927:ENST00000423155:exon6:c.A392G:p.E131G Score=470;Name=lod=108 NA 10q25.2 NA NA NA NA rs10787428 0.55 0.55 0.556 0.554712 0.5437 0.6042 0.4582 0.528 0.6196 0.54 0.59 0.47 0.57 0.5667 0.59 0.13 T 0.457 P 0.081 B 0.000 D 0.000 P 1.935 M -0.51 T -0.903 T 0.000 T 0.119 3.584 18.26 5.11 1.929 7.129 13.501 3.584072 3.584072 0.01 0.587674 0.503858 NA 0.565 NA 12.1352594 448 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 448 17 79671714 79671714 T C exonic MRPL12 NA nonsynonymous SNV MRPL12:NM_002949:exon3:c.T313C:p.S105P exonic ENSG00000183048,ENSG00000262660,ENSG00000262814 NA nonsynonymous SNV ENSG00000262814:ENST00000333676:exon3:c.T313C:p.S105P,ENSG00000183048:ENST00000541223:exon3:c.T313C:p.S105P,ENSG00000262660:ENST00000571730:exon3:c.T313C:p.S105P Score=243;Name=lod=13 NA 17q25.3 NA NA Name=4 NA rs11546280 0.11 0.11 0.125 0.101438 0.0716 0.2242 0.0461 0.0726 0.0838 0.07 0.22 0.04 0.08 0.0716 0.22 0.89 T 0.0 B 0.0 B 0.002 N 0.000 P -1.59 N 1.02 T -1.027 T 0.000 T 0.059 -1.28 0.042 4.62 1.182 1.935 8.487 -1.279643 NA 0.3 0.061395 0.069905 NA 0.13 NA 12.1287384 449 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=Pol2-4H8,ELF1_(SC-631),Pol2 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 449 16 22137603 22137603 G A exonic VWA3A NA nonsynonymous SNV VWA3A:NM_173615:exon17:c.G1637A:p.C546Y exonic ENSG00000175267 NA nonsynonymous SNV ENSG00000175267:ENST00000389398:exon17:c.G1637A:p.C546Y,ENSG00000175267:ENST00000568328:exon18:c.G1700A:p.C567Y NA NA 16p12.2 NA Name=CTCF Name=3 NA rs55732851 0.1 0.1 0.097 0.0930511 0.0626 0.0506 0.0793 0.1914 0.045 0.06 0.03 0.09 0.23 0.0714 0.23 1 T 0.0 B 0.001 B 0.564 N 0.296 P 0.29 N 2.04 T -0.997 T 0.000 T 0.412 -2.287 0.004 -9.94 -2.453 -1.206 0.420 -2.287083 NA 0.39 0.076628 0.166254 NA 0.152 NA 12.1227054 449 13 61989175 61989175 G T exonic PCDH20 NA nonsynonymous SNV PCDH20:NM_022843:exon1:c.C117A:p.S39R exonic ENSG00000197991 NA nonsynonymous SNV ENSG00000197991:ENST00000409204:exon1:c.C117A:p.S39R,ENSG00000197991:ENST00000409186:exon4:c.C117A:p.S39R Score=493;Name=lod=134 NA 13q21.2 NA Name=Pol2 NA NA rs3812874 0.1 0.1 0.081 0.124401 0.0388 0.1865 0.1398 0.0522 0.2352 0.04 0.18 0.12 0.06 0.1241 0.18 0.36 T 0.01 B 0.021 B 0.061 N 0.891 P 0.895 L 0.49 T -1.080 T 0.000 T 0.29 2.339 13.78 4.02 1.571 1.238 5.991 2.338519 2.338519 0.02 0.048267 0.049932 NA 0.058 NA 12.1221664 449 16 11876203 11876203 T C exonic ZC3H7A NA nonsynonymous SNV ZC3H7A:NM_014153:exon2:c.A8G:p.N3S exonic ENSG00000122299 NA nonsynonymous SNV ENSG00000122299:ENST00000396516:exon1:c.A8G:p.N3S,ENSG00000122299:ENST00000355758:exon2:c.A8G:p.N3S,ENSG00000122299:ENST00000571198:exon2:c.A8G:p.N3S,ENSG00000122299:ENST00000572870:exon2:c.A8G:p.N3S,ENSG00000122299:ENST00000576018:exon2:c.A8G:p.N3S,ENSG00000122299:ENST00000572781:exon3:c.A8G:p.N3S,ENSG00000122299:ENST00000574995:exon3:c.A8G:p.N3S Score=618;Name=lod=435 NA 16p13.13 NA Name=BATF Name=3 NA rs1429077 0.06 0.06 0.06 0.058107 0.0845 NA 0.0634 0.0953 0.0368 0.08 NA 0.07 0.08 0.0597 0.11 1 T 0.0 B 0.0 B 0.001 N 0.000 P -0.41 N 2.97 T -0.985 T 0.000 T 0.091 -0.219 2.94 4.31 1.377 0.430 7.143 -0.219 NA 1 0.067326 0.104461 NA 0.072 NA 12.1218074 449 5 52229745 52229745 T G exonic ITGA1 NA nonsynonymous SNV ITGA1:NM_181501:exon23:c.T2883G:p.I961M exonic ENSG00000213949 NA nonsynonymous SNV ENSG00000213949:ENST00000282588:exon23:c.T2883G:p.I961M Score=472;Name=lod=110 NA 5q11.2 NA NA NA NA rs12520591 0.1 0.1 0.096 0.0966454 0.0606 0.1548 0.2709 0.0182 0.0562 0.06 0.16 0.19 0.02 0.0901 0.19 0.17 T 0.91 P 0.77 P 0.009 N 0.031 P 1.04 L 0.84 T -1.091 T 0.000 T 0.274 3.851 19.56 5.77 2.194 2.323 12.482 3.850523 3.850523 0.05 0.063099 0.031193 NA 0.08 NA 12.1195344 449 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 450 22 29837537 29837537 T C exonic RFPL1 NA nonsynonymous SNV RFPL1:NM_021026:exon2:c.T380C:p.M127T exonic ENSG00000128250 NA nonsynonymous SNV ENSG00000128250:ENST00000354373:exon2:c.T380C:p.M127T Score=313;Name=lod=25 NA 22q12.2 NA NA NA NA rs3804076 0.26 0.26 0.214 0.23103 0.4384 0.1091 0.4006 0.0356 0.2873 0.44 0.13 0.39 0.05 0.3468 0.44 0.04 D 0.982 D 0.998 D . . 0.990 P 2.965 M 2.87 T -0.959 T 0.000 T 0.123 2.677 14.91 1.1 0.744 3.478 6.312 2.67678 2.67678 0.04 0.434884 0.091466 ID=COSM1415507;OCCURENCE=1(large_intestine) 0.333 NA 12.1132494 450 19 16926067 16926067 A T UTR3 NWD1 NM_001007525:c.*217A>T NA NA exonic ENSG00000188039 NA nonsynonymous SNV ENSG00000188039:ENST00000339803:exon16:c.A4217T:p.D1406V,ENSG00000188039:ENST00000552788:exon18:c.A4622T:p.D1541V,ENSG00000188039:ENST00000523826:exon19:c.A4004T:p.D1335V,ENSG00000188039:ENST00000549814:exon19:c.A4496T:p.D1499V Score=243;Name=lod=13 NA 19p13.11 NA NA NA NA rs11671361 0.18 0.18 0.159 0.166334 0.2515 0.0933 0.3084 0.056 0.2025 0.26 0.11 0.29 0.06 0.2242 0.29 0.03 D 0.994 D 0.865 P . . 0.000 P . . 0.31 T -1.113 T 0.000 T 0.616 3.292 17.06 4.86 1.946 1.942 12.659 3.291878 3.291878 0 0.244767 0.092374 NA 0.094 NA 12.1128664 450 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 451 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 451 12 53091566 53091566 C A exonic KRT77 NA nonsynonymous SNV KRT77:NM_175078:exon2:c.G658T:p.G220C exonic ENSG00000189182 NA nonsynonymous SNV ENSG00000189182:ENST00000341809:exon2:c.G658T:p.G220C,ENSG00000189182:ENST00000553168:exon3:c.G743T:p.R248L NA NA 12q13.13 NA NA NA NA rs1567759 0.37 0.37 0.365 0.40655 0.4026 0.246 0.4121 0.4811 0.4714 0.41 0.22 0.38 0.46 0.408 0.46 0.05 D 0.999 D 0.976 D . . 0.967 P 1.39 L -2.43 D -1.048 T 0.000 T 0.123 2.351 13.82 -2.05 -0.220 -1.970 7.074 2.350744 2.350744 0.04 0.421512 0.451203 ID=COSM1362578;OCCURENCE=1(large_intestine) 0.377 NA 12.1012214 451 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 451 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 452 17 3981290 3981290 A G exonic ZZEF1 NA nonsynonymous SNV ZZEF1:NM_015113:exon19:c.T2876C:p.V959A exonic ENSG00000074755 NA nonsynonymous SNV ENSG00000074755:ENST00000381638:exon19:c.T2876C:p.V959A Score=610;Name=lod=401 NA 17p13.2 NA NA NA NA rs78806449 0.08 0.08 0.066 0.0814696 0.0875 0.0615 0.1297 0.0234 0.1401 0.09 0.06 0.12 0.04 0.0882 0.14 0.08 T 0.142 B 0.083 B 0.000 D 0.000 P 0.55 N 2.02 T -1.069 T 0.001 T 0.078 2.843 15.47 4.87 2.288 4.620 10.674 2.842637 2.842637 0.06 0.06907 0.032229 NA 0.109 NA 12.0885634 452 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 452 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$PPARG_01 NA NA NA rs1378739 0.66 0.66 0.664 0.657348 0.5686 0.7222 0.6484 0.7231 0.5992 0.55 0.72 0.67 0.76 0.5993 0.76 0 D 0.761 P 0.247 B 0.059 U 0.000 P 2.85 M 0.4 T -0.966 T 0.000 T 0.338 1.063 9.34 2.99 1.760 0.375 9.016 1.062863 NA 0 0.579921 0.699228 NA 0.659 NA 12.0855124 453 14 35230980 35230980 C T exonic BAZ1A NA nonsynonymous SNV BAZ1A:NM_182648:exon23:c.G4130A:p.R1377K,BAZ1A:NM_013448:exon24:c.G4226A:p.R1409K exonic ENSG00000198604 NA nonsynonymous SNV ENSG00000198604:ENST00000358716:exon23:c.G4130A:p.R1377K,ENSG00000198604:ENST00000382422:exon23:c.G4226A:p.R1409K,ENSG00000198604:ENST00000360310:exon24:c.G4226A:p.R1409K Score=535;Name=lod=199 NA 14q13.1 NA NA NA NA rs45620534 0.04 0.04 0.034 0.0385383 0.0805 NA 0.049 0.0023 0.0767 0.08 NA 0.05 0.0041 0.0768 0.092 0.34 T 0.018 B 0.016 B 0.005 N 0.827 D 0.425 N 0.18 T -1.067 T 0.006 T 0.091 2.283 13.59 5.06 1.520 3.149 11.078 2.282752 2.282752 0.32 0.092442 0.0202 NA 0.014 NA 12.0835914 453 11 66313203 66313203 T C exonic ZDHHC24 NA nonsynonymous SNV ZDHHC24:NM_207340:exon1:c.A272G:p.Q91R exonic ENSG00000174165 NA nonsynonymous SNV ENSG00000174165:ENST00000310442:exon1:c.A272G:p.Q91R,ENSG00000174165:ENST00000526986:exon1:c.A272G:p.Q91R,ENSG00000174165:ENST00000534073:exon1:c.A272G:p.Q91R Score=670;Name=lod=706 NA 11q13.2 Score=812;Name=V$AP4_01 NA Name=15 NA rs2305534 0.25 0.25 0.169 0.227835 0.2416 0.3165 0.17 0.1891 0.2157 0.26 0.31 0.21 0.18 0.3281 0.31 0.66 T 0.611 P 0.425 B 0.000 N 0.003 P 0.41 N 0.92 T -1.023 T 0.000 T 0.066 2.941 15.8 2.62 0.850 1.694 5.862 2.941012 2.941012 0.02 0.182141 0.132861 NA 0.109 NA 12.0814924 453 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,Pol2,Pol2-4H8,NFKB 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 453 7 48086077 48086077 C T exonic C7orf57 NA nonsynonymous SNV C7orf57:NM_001267865:exon4:c.C5T:p.P2L,C7orf57:NM_001267866:exon4:c.C5T:p.P2L,C7orf57:NM_001100159:exon5:c.C371T:p.P124L exonic ENSG00000164746 NA nonsynonymous SNV ENSG00000164746:ENST00000435376:exon4:c.C5T:p.P2L,ENSG00000164746:ENST00000348904:exon5:c.C371T:p.P124L,ENSG00000164746:ENST00000420324:exon5:c.C506T:p.P169L,ENSG00000164746:ENST00000430738:exon5:c.C506T:p.P169L,ENSG00000164746:ENST00000539619:exon5:c.C371T:p.P124L Score=458;Name=lod=97 NA 7p12.3 NA NA Name=7 NA rs2708912 0.84 0.84 0.841 0.821286 0.9543 0.745 0.8588 0.7693 0.8067 0.95 0.75 0.86 0.76 0.8717 0.95 0.08 T 0.858 P 0.275 B 0.000 D 0.000 P 2.57 M 0.97 T -1.059 T 0.000 T 0.704 4.251 22.2 5.34 2.643 4.818 16.886 4.2514 4.2514 0.22 0.928844 0.765089 NA 0.855 NA 12.0784894 453 7 30492237 30492237 C T exonic NOD1 NA nonsynonymous SNV NOD1:NM_006092:exon6:c.G796A:p.E266K exonic ENSG00000106100 NA nonsynonymous SNV ENSG00000106100:ENST00000222823:exon6:c.G796A:p.E266K,ENSG00000106100:ENST00000434755:exon6:c.G796A:p.E266K Score=548;Name=lod=224 NA 7p14.3 Score=794;Name=V$OLF1_01 NA NA NA rs2075820 0.3 0.3 0.293 0.33746 0.2326 0.3869 0.1758 0.4032 0.4202 0.22 0.37 0.21 0.4 0.2777 0.4 0.33 T 0.897 P 0.266 B 0.189 N 0.000 P 1.7 L -1.23 T -0.976 T 0.000 T 0.095 2.999 16 5.54 2.602 2.119 11.800 2.999294 2.999294 0.03 0.245349 0.379029 NA 0.246 NA 12.0776844 453 14 21623836 21623836 G A exonic OR5AU1 NA nonsynonymous SNV OR5AU1:NM_001004731:exon1:c.C349T:p.L117F exonic ENSG00000169327 NA nonsynonymous SNV ENSG00000169327:ENST00000304418:exon1:c.C349T:p.L117F Score=475;Name=lod=114 NA 14q11.2 NA NA NA NA rs4982419 0.65 0.65 0.66 0.664736 0.7624 0.4851 0.6916 0.6702 0.7229 0.75 0.47 0.72 0.66 0.7147 0.78 0.01 D 1.0 D 1.0 D . . 0.000 P 1.22 L 6.89 T -1.212 T 0.000 T 0.3 2.471 14.22 4.34 2.265 0.954 14.412 2.471261 2.471261 0.03 0.779767 0.665456 NA 0.674 NA 12.0764664 454 17 7735063 7735063 T G exonic DNAH2 NA nonsynonymous SNV DNAH2:NM_020877:exon81:c.T12696G:p.F4232L exonic ENSG00000183914 NA nonsynonymous SNV ENSG00000183914:ENST00000389173:exon81:c.T12696G:p.F4232L,ENSG00000183914:ENST00000572933:exon82:c.T12696G:p.F4232L Score=529;Name=lod=189 NA 17p13.1 NA NA NA NA rs57985356 0.12 0.12 0.1 0.150759 0.0626 0.2837 0.268 0.0045 0.2188 0.06 0.24 0.21 0.01 0.1227 0.24 . . 0.003 B 0.01 B 0.000 D 0.000 P 0.855 L 3.15 T -0.913 T 0.000 T 0.249 1.225 9.971 4.27 1.038 2.018 9.719 1.225367 NA 0.65 0.084651 0.02769 NA 0.08 NA 12.0633824 454 1 115829313 115829313 G A exonic NGF NA nonsynonymous SNV NGF:NM_002506:exon3:c.C104T:p.A35V exonic ENSG00000134259 NA nonsynonymous SNV ENSG00000134259:ENST00000369512:exon3:c.C104T:p.A35V Score=374;Name=lod=44 NA 1p13.2 Score=1000;Name=V$AP2REP_01 NA NA NA rs6330 0.31 0.31 0.27 0.247404 0.4563 0.1637 0.3228 0.1551 0.1902 0.47 0.15 0.39 0.16 0.3656 0.47 0.03 D 0.002 B 0.003 B 0.137 N 0.254 P 1.79 L 0.09 T -1.002 T 0.084 T 0.037 2.927 15.76 4.45 1.264 2.298 5.893 2.927347 2.927347 0.01 0.452326 0.206764 NA 0.42 NA 12.0591074 455 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$TCF11MAFG_01 NA NA NA rs12510688 0.09 0.09 0.066 0.0822684 0.0934 0.1181 0.1844 0.0038 0.0675 0.1 0.09 0.19 0.01 0.0966 0.19 0.02 D 0.202 B 0.19 B 0.007 N 0.001 P 0.07 N -1.29 T -1.019 T 0.001 T 0.402 3.678 18.69 3.42 0.873 5.565 9.622 3.678447 3.678447 0 0.089767 0.021788 NA 0.058 NA 12.0535664 455 1 15438990 15438990 G A exonic KAZN NA nonsynonymous SNV KAZN:NM_201628:exon14:c.G2116A:p.A706T exonic ENSG00000189337 NA nonsynonymous SNV ENSG00000189337:ENST00000376030:exon14:c.G2116A:p.A706T Score=300;Name=lod=22 NA 1p36.21 NA Name=USF2,USF-1,BATF,SP1,ZEB1_(SC-25388),NFKB,BCL11A,ELF1_(SC-631),KAP1,ZNF263 Name=83 NA rs10803354 0.46 0.46 0.433 0.442093 0.3966 0.6558 0.4438 0.264 0.5082 0.42 0.7 0.44 0.25 0.4799 0.7 0.17 T 0.001 B 0.002 B 0.118 N 0.000 P 0.345 N 2.24 T -1.025 T 0.000 T 0.054 2.04 12.78 3.61 1.333 1.505 6.379 2.040317 2.040317 0.02 0.404468 0.281888 NA 0.348 NA 12.0523654 455 11 60704213 60704213 C T exonic TMEM132A NA nonsynonymous SNV TMEM132A:NM_017870:exon11:c.C2909T:p.A970V,TMEM132A:NM_178031:exon11:c.C2906T:p.A969V exonic ENSG00000006118 NA nonsynonymous SNV ENSG00000006118:ENST00000005286:exon11:c.C2909T:p.A970V,ENSG00000006118:ENST00000453848:exon11:c.C2906T:p.A969V Score=439;Name=lod=81 NA 11q12.2 Score=829;Name=V$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 455 20 25434139 25434139 C T exonic NINL NA nonsynonymous SNV NINL:NM_025176:exon24:c.G4097A:p.R1366H exonic ENSG00000101004 NA nonsynonymous SNV ENSG00000101004:ENST00000422516:exon23:c.G3050A:p.R1017H,ENSG00000101004:ENST00000278886:exon24:c.G4097A:p.R1366H NA NA 20p11.21 NA NA NA NA rs17857107 0.07 0.07 0.078 0.0672923 0.0954 0.001 0.036 0.0983 0.0869 0.1 NA 0.05 0.11 0.0912 0.11 0.03 D 0.997 D 0.926 D 0.355 N 1.000 P 2.015 M 1.34 T -1.046 T 0.004 T 0.033 2.628 14.75 -2.27 -0.179 -0.130 1.612 2.628205 2.628205 0.02 0.098488 0.097821 ID=COSM443574;OCCURENCE=1(breast) 0.138 NA 12.0482454 456 6 79692751 79692751 G A exonic PHIP NA nonsynonymous SNV PHIP:NM_017934:exon23:c.C2621T:p.T874I exonic ENSG00000146247 NA nonsynonymous SNV ENSG00000146247:ENST00000275034:exon23:c.C2621T:p.T874I Score=669;Name=lod=699 NA 6q14.1 Score=762;Name=V$MEF2_04 NA NA NA rs11547228 0.07 0.07 0.063 0.0754792 0.1034 0.1121 0.0793 0.0091 0.0961 0.1 0.08 0.09 0.01 0.0861 0.15 . . 0.0 B 0.0 B 0.002 N 0.345 P 0.955 L 1.49 T -1.061 T 0.023 T 0.041 1.291 10.22 3.96 2.295 2.612 10.780 1.290529 1.290529 0.47 0.103837 0.025874 NA 0.152 NA 12.0399964 456 6 116325142 116325142 C T exonic FRK NA nonsynonymous SNV FRK:NM_002031:exon2:c.G364A:p.G122R exonic ENSG00000111816 NA nonsynonymous SNV ENSG00000111816:ENST00000606080:exon2:c.G364A:p.G122R Score=540;Name=lod=209 NA 6q22.1 NA Name=JunD,PU.1 Name=7 NA rs3756772 0.46 0.46 0.428 0.458866 0.4235 0.7857 0.438 0.177 0.5542 0.43 0.77 0.4 0.17 0.4556 0.77 0.18 T 0.0 B 0.0 B 0.028 N 0.000 P -0.245 N 1.75 T -1.012 T 0.011 T 0.038 1.263 10.12 4.8 1.084 2.306 7.436 1.26342 1.26342 0.17 0.414515 0.217885 NA 0.529 NA 12.0397184 456 13 28624294 28624294 G A exonic FLT3 NA nonsynonymous SNV FLT3:NM_004119:exon6:c.C680T:p.T227M exonic ENSG00000122025 NA nonsynonymous SNV ENSG00000122025:ENST00000241453:exon6:c.C680T:p.T227M,ENSG00000122025:ENST00000380982:exon6:c.C680T:p.T227M,ENSG00000122025:ENST00000380987:exon6:c.C680T:p.T227M,ENSG00000122025:ENST00000537084:exon6:c.C680T:p.T227M Score=496;Name=lod=138 NA 13q12.2 NA NA Name=6 NA rs1933437 0.57 0.57 0.554 0.558706 0.5805 0.7688 0.6066 0.2844 0.6564 0.58 0.75 0.61 0.3 0.5988 0.75 0.15 T 0.999 D 0.879 P 0.001 D 0.509 P 0.895 L -1.03 T -0.903 T 0.000 T 0.334 1.942 12.45 3.85 0.687 3.696 11.157 1.941805 1.941805 0 0.614884 0.343395 NA 0.486 NA 12.0391494 456 2 228855866 228855866 G C exonic SPHKAP NA nonsynonymous SNV SPHKAP:NM_030623:exon10:c.C4722G:p.S1574R,SPHKAP:NM_001142644:exon11:c.C4809G:p.S1603R exonic ENSG00000153820 NA nonsynonymous SNV ENSG00000153820:ENST00000344657:exon10:c.C4722G:p.S1574R,ENSG00000153820:ENST00000392056:exon11:c.C4809G:p.S1603R NA NA 2q36.3 Score=849;Name=V$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 456 12 51723499 51723499 T C exonic CELA1 NA nonsynonymous SNV CELA1:NM_001971:exon7:c.A728G:p.Q243R exonic ENSG00000139610 NA nonsynonymous SNV ENSG00000139610:ENST00000293636:exon7:c.A728G:p.Q243R Score=549;Name=lod=227 NA 12q13.13 NA NA NA NA rs17860364 0.11 0.11 0.092 0.0934505 0.1004 0.0992 0.0807 0.1301 0.0399 0.1 0.09 0.1 0.14 0.0913 0.14 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.64 N -2.74 D -0.854 T 0.003 T 0.094 0.783 8.131 5.41 1.449 3.041 13.700 0.782982 NA 1 0.10407 0.110985 NA 0.058 NA 12.0375634 456 12 95660182 95660182 A G exonic VEZT NA nonsynonymous SNV VEZT:NM_017599:exon5:c.A484G:p.T162A exonic ENSG00000028203 NA nonsynonymous SNV ENSG00000028203:ENST00000549002:exon4:c.A394G:p.T132A,ENSG00000028203:ENST00000436874:exon5:c.A484G:p.T162A,ENSG00000028203:ENST00000546445:exon5:c.A250G:p.T84A,ENSG00000028203:ENST00000261219:exon6:c.A340G:p.T114A,ENSG00000028203:ENST00000397792:exon6:c.A340G:p.T114A,ENSG00000028203:ENST00000551472:exon6:c.A541G:p.T181A Score=419;Name=lod=67 NA 12q22 Score=927;Name=V$MYCMAX_02 NA NA NA rs17855933 0.07 0.07 0.068 0.0722843 0.1074 0.001 0.0893 0.084 0.0818 0.11 0.0017 0.1 0.07 0.0857 0.11 0.37 T 0.002 B 0.004 B 0.002 N 0.666 P 0.205 N 0.99 T -1.090 T 0.001 T 0.216 -0.102 3.498 2.88 2.023 1.007 4.088 -0.102452 NA 0.16 0.104015 0.074435 NA 0.058 NA 12.0362184 457 5 122718736 122718736 G C exonic CEP120 NA nonsynonymous SNV CEP120:NM_001166226:exon12:c.C1726G:p.L576V,CEP120:NM_153223:exon13:c.C1804G:p.L602V exonic ENSG00000168944 NA nonsynonymous SNV ENSG00000168944:ENST00000306467:exon12:c.C1804G:p.L602V,ENSG00000168944:ENST00000306481:exon12:c.C1726G:p.L576V,ENSG00000168944:ENST00000508442:exon12:c.C1726G:p.L576V,ENSG00000168944:ENST00000328236:exon13:c.C1804G:p.L602V Score=410;Name=lod=62 NA 5q23.2 NA NA NA NA rs6595440 0.44 0.44 0.418 0.41234 0.4453 0.506 0.4078 0.2935 0.4458 0.48 0.52 0.4 0.3 0.428 0.52 0.01 D 1.0 D 0.999 D 0.000 N 0.000 P 2.25 M 0.14 T -0.910 T 0.000 T 0.196 3.002 16.01 1.93 0.058 2.765 6.920 3.00182 3.00182 0.01 0.426676 0.321591 NA 0.435 NA 12.0333574 457 6 31473957 31473957 C G exonic MICB NA nonsynonymous SNV MICB:NM_005931:exon3:c.C363G:p.I121M exonic ENSG00000204516 NA nonsynonymous SNV ENSG00000204516:ENST00000252229:exon3:c.C363G:p.I121M,ENSG00000204516:ENST00000538442:exon3:c.C267G:p.I89M NA NA 6p21.33 NA NA NA NA rs3134900 0.07 0.07 0.071 0.076877 0.0895 0.0685 0.0447 0.1188 0.0389 0.09 0.05 0.04 0.11 0.0926 0.12 0.04 D 0.999 D 0.998 D 0.225 U 1.000 P 2.125 M 5.61 T -0.899 T 0.005 T 0.067 0.927 8.773 1.44 0.543 -0.976 3.854 0.926504 NA 0.1 0.118096 0.123965 ID=COSM1286189;OCCURENCE=2(autonomic_ganglia) 0.123 NA 12.0331374 457 6 31601344 31601344 T C exonic PRRC2A NA nonsynonymous SNV PRRC2A:NM_004638:exon17:c.T4508C:p.L1503P,PRRC2A:NM_080686:exon17:c.T4508C:p.L1503P exonic ENSG00000204469 NA nonsynonymous SNV ENSG00000204469:ENST00000376007:exon17:c.T4508C:p.L1503P,ENSG00000204469:ENST00000376033:exon17:c.T4508C:p.L1503P Score=472;Name=lod=110 NA 6p21.33 Score=850;Name=V$IK1_01 Name=Pol2-4H8,Pol2 NA NA rs2272593 0.81 0.81 0.793 0.815296 0.7684 0.9732 0.8271 0.6831 0.8712 0.77 0.96 0.82 0.7 0.7893 0.96 0 D 0.0 B 0.0 B 0.027 N 0.760 P -0.55 N 4.73 T -0.883 T 0.001 T 0.063 1.132 9.614 5.41 1.536 1.656 11.690 1.131974 NA 0.08 0.742889 0.68634 NA 0.797 NA 12.0327444 457 11 94862577 94862577 G T exonic ENDOD1 NA nonsynonymous SNV ENDOD1:NM_015036:exon2:c.G1337T:p.G446V exonic ENSG00000149218 NA nonsynonymous SNV ENSG00000149218:ENST00000278505:exon2:c.G1337T:p.G446V NA NA 11q21 NA NA NA NA rs3740861 0.18 0.18 0.191 0.20008 0.2684 0.122 0.196 0.087 0.3661 0.27 0.12 0.19 0.11 0.2557 0.28 0.11 T 0.995 D 0.834 P 0.068 N 0.889 P 2.015 M 1.24 T -1.197 T 0.000 T 0.27 2.262 13.52 5.97 2.834 6.268 20.430 2.261585 2.261585 0.08 0.276669 0.119608 NA 0.246 NA 12.0325644 457 17 4463023 4463023 G A exonic GGT6 NA nonsynonymous SNV GGT6:NM_001122890:exon2:c.C173T:p.A58V,GGT6:NM_153338:exon2:c.C173T:p.A58V exonic ENSG00000167741 NA nonsynonymous SNV ENSG00000167741:ENST00000301395:exon2:c.C173T:p.A58V,ENSG00000167741:ENST00000381550:exon2:c.C173T:p.A58V,ENSG00000167741:ENST00000574154:exon2:c.C173T:p.A58V,ENSG00000167741:ENST00000574584:exon2:c.C173T:p.A58V Score=259;Name=lod=15 NA 17p13.2 NA NA NA NA rs11657054 0.76 0.76 0.739 0.755391 0.7674 0.8909 0.7896 0.6399 0.7352 0.77 0.88 0.79 0.6 0.7666 0.88 0.05 D 0.86 P 0.453 P 0.282 N 0.000 P 2.015 M 2.45 T -1.097 T 0.000 T 0.1 4.063 20.9 4.29 1.377 2.357 10.022 4.063155 4.063155 0 0.770962 0.689183 NA 0.71 NA 12.0283714 458 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 458 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 459 6 41900406 41900406 C T exonic BYSL NA nonsynonymous SNV BYSL:NM_004053:exon7:c.C1276T:p.P426S exonic ENSG00000112578 NA nonsynonymous SNV ENSG00000112578:ENST00000230340:exon7:c.C1276T:p.P426S NA NA 6p21.1 NA Name=Pol2-4H8 NA NA rs3828855 0.1 0.1 0.101 0.0954473 0.0974 0.1478 0.0447 0.0741 0.1043 0.11 0.15 0.04 0.08 0.1149 0.15 1 T 0.001 B 0.006 B 0.000 D 0.853 P -1.005 N 1.13 T -0.923 T 0.009 T 0.041 -1.575 0.014 4.77 2.664 1.558 2.074 -1.575042 NA 0.93 0.108721 0.082842 NA 0.043 NA 12.0123124 459 17 75398498 75398498 C T exonic SEPT9 NA nonsynonymous SNV SEPT9:NM_001113493:exon2:c.C413T:p.P138L,SEPT9:NM_006640:exon2:c.C380T:p.P127L,SEPT9:NM_001113491:exon3:c.C434T:p.P145L exonic ENSG00000184640 NA nonsynonymous SNV ENSG00000184640:ENST00000329047:exon2:c.C380T:p.P127L,ENSG00000184640:ENST00000423034:exon2:c.C413T:p.P138L,ENSG00000184640:ENST00000588575:exon2:c.C116T:p.P39L,ENSG00000184640:ENST00000589140:exon2:c.C389T:p.P130L,ENSG00000184640:ENST00000590294:exon2:c.C380T:p.P127L,ENSG00000184640:ENST00000590595:exon2:c.C116T:p.P39L,ENSG00000184640:ENST00000591198:exon2:c.C377T:p.P126L,ENSG00000184640:ENST00000427177:exon3:c.C434T:p.P145L Score=295;Name=lod=21 NA 17q25.3 NA NA NA NA rs34587622 0.06 0.06 0.062 0.0497204 0.1163 0.0119 0.085 0.0091 0.0501 0.1 0.02 0.09 0.02 0.0928 0.11 0.06 T 0.959 D 0.236 B 0.492 N 0.000 P 1.04 L 1.43 T -1.049 T 0.002 T 0.147 2.054 12.83 4.28 1.204 2.152 12.671 2.054286 2.054286 0.01 0.112012 0.023084 NA 0.072 NA 12.0122214 459 11 4928841 4928841 T C exonic OR51A7 NA nonsynonymous SNV OR51A7:NM_001004749:exon1:c.T242C:p.M81T exonic ENSG00000176895 NA nonsynonymous SNV ENSG00000176895:ENST00000359350:exon1:c.T242C:p.M81T Score=259;Name=lod=15 NA 11p15.4 NA NA NA NA rs7108225 0.06 0.06 0.059 0.0573083 0.1193 0.002 0.0663 0.0295 0.0818 0.11 0.0017 0.07 0.02 0.0861 0.12 0.26 T 0.114 B 0.137 B 0.000 D 1.000 N 1.805 L 3.36 T -1.012 T 0.000 T 0.164 1.9 12.31 3.86 2.098 1.307 9.981 1.899731 1.899731 0.05 0.120638 0.052476 ID=COSM429114;OCCURENCE=1(breast),2(large_intestine) 0.109 NA 12.0072954 459 3 138191232 138191232 G A exonic ESYT3 NA nonsynonymous SNV ESYT3:NM_031913:exon18:c.G1768A:p.G590R exonic ENSG00000158220 NA nonsynonymous SNV ENSG00000158220:ENST00000389567:exon18:c.G1768A:p.G590R Score=497;Name=lod=139 NA 3q22.3 NA Name=eGFP-JunD,c-Fos,GATA-2 Name=14 NA rs10935282 0.39 0.39 0.348 0.377995 0.4374 0.5347 0.5447 0.0514 0.4785 0.44 0.57 0.44 0.07 0.4437 0.57 0.54 T 0.218 B 0.035 B 0.068 N 0.000 P 1.61 L -0.51 T -0.947 T 0.000 T 0.268 1.262 10.11 4.45 2.304 1.950 14.617 1.26164 1.26164 0.67 0.445952 0.108367 NA 0.254 NA 12.0062814 459 11 4936608 4936608 C G exonic OR51G2 NA nonsynonymous SNV OR51G2:NM_001005238:exon1:c.G286C:p.E96Q exonic ENSG00000176893 NA nonsynonymous SNV ENSG00000176893:ENST00000322013:exon1:c.G286C:p.E96Q NA NA 11p15.4 Score=878;Name=V$MYCMAX_02 NA NA NA rs12419598 0.06 0.06 0.062 0.0521166 0.1223 0.002 0.072 0.0053 0.0808 0.12 0.0017 0.08 0.01 0.0854 0.12 0.04 D 0.381 B 0.179 B 0.186 N 0.998 N 2.06 M 6.64 T -0.904 T 0.000 T 0.043 0.478 6.592 5.47 2.847 -0.312 18.052 0.477565 NA 0.06 0.120289 0.028169 NA 0.101 NA 12.0053444 460 19 44610843 44610843 C T exonic ZNF224 NA nonsynonymous SNV ZNF224:NM_013398:exon6:c.C530T:p.T177M exonic ENSG00000267680 NA nonsynonymous SNV ENSG00000267680:ENST00000336976:exon6:c.C530T:p.T177M NA NA 19q13.31 NA NA NA NA rs72480796 0.09 0.09 0.074 0.0626997 0.1143 0.0992 0.0519 0.0061 0.0562 0.12 0.11 0.07 0.01 0.101 0.12 0.05 D 0.999 D 0.975 D . . 1.000 P 1.265 L 2.41 T -1.082 T 0.001 T 0.123 3.159 16.56 -6.48 -0.663 -4.625 2.578 3.158551 3.158551 0.05 0.12093 0.023377 NA 0.13 NA 11.9971034 461 2 238243464 238243464 C G exonic COL6A3 NA nonsynonymous SNV COL6A3:NM_057166:exon38:c.G7213C:p.A2405P,COL6A3:NM_057167:exon40:c.G8416C:p.A2806P,COL6A3:NM_004369:exon41:c.G9034C:p.A3012P exonic ENSG00000163359 NA nonsynonymous SNV ENSG00000163359:ENST00000472056:exon38:c.G7213C:p.A2405P,ENSG00000163359:ENST00000409809:exon39:c.G8416C:p.A2806P,ENSG00000163359:ENST00000346358:exon40:c.G8434C:p.A2812P,ENSG00000163359:ENST00000347401:exon40:c.G8431C:p.A2811P,ENSG00000163359:ENST00000353578:exon40:c.G8416C:p.A2806P,ENSG00000163359:ENST00000295550:exon41:c.G9034C:p.A3012P Score=371;Name=lod=43 NA 2q37.3 Score=830;Name=V$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 461 14 100613197 100613197 G A exonic DEGS2 NA synonymous SNV DEGS2:NM_206918:exon3:c.C873T:p.H291H exonic ENSG00000168350 NA nonsynonymous SNV ENSG00000168350:ENST00000553834:exon2:c.C130T:p.L44F Score=567;Name=lod=268 NA 14q32.2 Score=778;Name=V$PAX6_01 Name=CTCF NA NA rs140696950 0.0014 0.0014 NA 0.00279553 0.004 NA 0.0058 0.0008 0.0051 0.0013 NA 0.01 NA 0.0023 0.011 . . . . . . . . 1.000 N . . 0.35 T -1.020 T 0.099 T . 2.442 14.12 3.75 2.251 0.611 8.174 2.441563 2.441563 NA 0.002093 0.000908 NA 0.007 NA 11.991607 462 6 28872036 28872036 G A exonic TRIM27 NA synonymous SNV TRIM27:NM_006510:exon8:c.C1353T:p.N451N exonic ENSG00000204713 NA nonsynonymous SNV ENSG00000204713:ENST00000377194:exon9:c.C1073T:p.T358M Score=636;Name=lod=511 NA 6p22.1 NA NA NA NA rs41270608 0.01 0.01 0.007 0.00379393 0.0089 NA 0.0086 0.0023 0.001 0.01 NA 0.01 0.0041 0.0055 0.011 0 D 0.028 B 0.006 B . . 1.000 N . . 0.06 T -0.995 T 0.078 T . 3.219 16.78 -5.66 -1.550 -1.416 14.700 3.21859 3.21859 0 0.009413 0.002978 NA 0.007 NA 11.976187 463 15 51217361 51217361 T C exonic AP4E1 NA nonsynonymous SNV AP4E1:NM_001252127:exon5:c.T262C:p.C88R,AP4E1:NM_007347:exon5:c.T487C:p.C163R exonic ENSG00000081014 NA nonsynonymous SNV ENSG00000081014:ENST00000261842:exon5:c.T487C:p.C163R,ENSG00000081014:ENST00000558439:exon5:c.T487C:p.C163R,ENSG00000081014:ENST00000560508:exon5:c.T262C:p.C88R,ENSG00000081014:ENST00000561393:exon5:c.T262C:p.C88R,ENSG00000081014:ENST00000561441:exon5:c.T487C:p.C163R Score=620;Name=lod=440 NA 15q21.2 NA NA Name=3 NA rs2306331 0.48 0.48 0.474 0.440895 0.4662 0.625 0.389 0.379 0.3456 0.47 0.59 0.38 0.43 0.4351 0.59 1 T 0.0 B 0.0 B 0.001 N 0.921 P -1.65 N 2.75 T -0.961 T 0.000 T 0.113 0.624 7.355 5.53 1.348 3.863 8.749 0.623751 NA 1 0.457499 0.397313 NA 0.399 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116365.2;CLNDSDB=.;CLNDSDBID=. 11.9745344 463 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 463 16 81232275 81232275 G A exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon7:c.C1535T:p.P512L exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000337114:exon7:c.C1535T:p.P512L,ENSG00000269323:ENST00000599697:exon7:c.C1535T:p.P512L Score=259;Name=lod=15 NA 16q23.2 NA Name=ELF1_(SC-631) NA NA rs7205673 0.8 0.8 0.807 0.761182 0.7833 0.9514 0.7824 0.6331 0.7004 0.79 0.96 0.78 0.64 0.7877 0.96 0.06 T 1.0 D 0.947 D 0.029 N 0.000 P . . 4.95 T -1.047 T 0.000 T 0.415 1.872 12.22 5.08 2.371 1.925 14.122 1.872282 1.872282 0 0.792651 0.663828 NA 0.703 NA 11.9696824 463 14 31381351 31381351 T C exonic STRN3 NA nonsynonymous SNV STRN3:NM_014574:exon9:c.A1160G:p.N387S,STRN3:NM_001083893:exon11:c.A1412G:p.N471S exonic ENSG00000196792 NA nonsynonymous SNV ENSG00000196792:ENST00000355683:exon9:c.A1160G:p.N387S,ENSG00000196792:ENST00000357479:exon11:c.A1412G:p.N471S Score=744;Name=lod=1408 NA 14q12 NA NA NA NA rs2273171 0.43 0.43 0.404 0.388978 0.4632 0.4692 0.4553 0.3139 0.2843 0.47 0.44 0.46 0.34 0.4376 0.47 0.01 D 0.399 B 0.138 B 0.000 D 0.000 P 0.85 L 0.24 T -0.930 T 0.000 T 0.016 4.544 24.6 5.63 2.257 6.153 15.787 4.544097 4.544097 0.01 0.46314 0.343849 ID=COSM147761;OCCURENCE=1(stomach) 0.413 NA 11.9693934 463 13 76382100 76382100 C T exonic LMO7 NA nonsynonymous SNV LMO7:NM_015842:exon7:c.C982T:p.L328F exonic ENSG00000136153 NA nonsynonymous SNV ENSG00000136153:ENST00000465261:exon7:c.C982T:p.L328F,ENSG00000136153:ENST00000321797:exon8:c.C982T:p.L328F,ENSG00000136153:ENST00000357063:exon11:c.C1837T:p.L613F,ENSG00000136153:ENST00000377534:exon11:c.C1837T:p.L613F Score=387;Name=lod=50 NA 13q22.2 NA NA NA NA rs2241913 0.13 0.13 0.103 0.128594 0.1272 0.2252 0.2435 0.0083 0.1115 0.13 0.19 0.22 0.01 0.1334 0.22 0.06 T 0.246 B 0.066 B 0.000 D 0.000 P . . 0.51 T -1.059 T 0.000 T 0.223 3.773 19.16 4.83 1.536 4.505 9.982 3.773455 3.773455 0.03 0.104411 0.024554 NA 0.109 NA 11.9683224 464 2 159663599 159663599 T C exonic DAPL1 NA nonsynonymous SNV DAPL1:NM_001017920:exon3:c.T179C:p.L60P exonic ENSG00000163331 NA nonsynonymous SNV ENSG00000163331:ENST00000309950:exon3:c.T179C:p.L60P,ENSG00000163331:ENST00000409042:exon3:c.T179C:p.L60P Score=304;Name=lod=23 NA 2q24.1 NA NA Name=19 NA rs9869 0.58 0.58 0.579 0.590455 0.4284 0.8036 0.6182 0.5408 0.5849 0.43 0.83 0.55 0.56 0.5072 0.83 0.06 T 0.763 P 0.549 P 0.019 N 0.000 P 1.5 L 1.51 T -1.102 T 0.000 T 0.215 3.601 18.33 5.64 2.275 4.167 14.108 3.601118 3.601118 0.05 0.434302 0.549251 NA 0.551 NA 11.9634314 464 1 11090916 11090916 C A exonic MASP2 NA nonsynonymous SNV MASP2:NM_006610:exon9:c.G1111T:p.D371Y exonic ENSG00000009724 NA nonsynonymous SNV ENSG00000009724:ENST00000400897:exon9:c.G1111T:p.D371Y NA NA 1p36.22 NA Name=Pol2-4H8 Name=2 NA rs12711521 0.63 0.63 0.581 0.58127 0.8201 0.6657 0.7536 0.171 0.681 0.83 0.69 0.75 0.15 0.7359 0.83 0.04 D 0.748 P 0.566 P 0.005 N 0.000 P 3.02 M -0.28 T -1.010 T 0.000 T 0.296 2.44 14.12 3.5 0.645 0.999 10.583 2.439952 2.439952 0.04 0.814651 0.268951 NA 0.543 NA 11.9626824 464 1 112042787 112042787 T G exonic ADORA3 NA nonsynonymous SNV ADORA3:NM_000677:exon2:c.A742C:p.I248L exonic ENSG00000121933 NA nonsynonymous SNV ENSG00000121933:ENST00000241356:exon2:c.A742C:p.I248L Score=432;Name=lod=76 NA 1p13.2 NA NA NA NA rs35511654 0.08 0.08 0.074 0.0595048 0.1402 0.001 0.0836 0.0628 0.0153 0.15 0.0017 0.09 0.05 0.0947 0.15 0.14 T 0.993 D 0.928 D . . 0.000 P 1.14 L -0.84 T -0.494 T 0.301 T 0.231 3.642 18.52 3.86 0.834 3.192 10.992 3.642415 3.642415 0.01 0.136628 0.058103 NA 0.036 NA 11.9618054 464 12 113403675 113403675 C T exonic OAS3 NA stopgain OAS3:NM_006187:exon12:c.C2530T:p.R844X exonic ENSG00000111331 NA stopgain ENSG00000111331:ENST00000228928:exon12:c.C2530T:p.R844X Score=309;Name=lod=24 NA 12q24.13 NA NA NA NA rs61942233 0.01 0.01 0.012 0.00519169 0.0109 NA 0.0058 0.0015 0.0092 0.01 NA 0.01 0.0041 0.0113 0.017 1 T . . . . 0.492 U 1.000 D . . . . . . . . . 7.265 38 3.16 1.126 0.025 9.736 7.26451 7.26451 1 0.016846 0.004502 ID=COSM1561826;OCCURENCE=1(large_intestine) 0.014 NA 11.960954 465 1 167097567 167097567 G A exonic DUSP27 NA nonsynonymous SNV DUSP27:NM_001080426:exon5:c.G3199A:p.D1067N exonic ENSG00000198842 NA nonsynonymous SNV ENSG00000198842:ENST00000443333:exon5:c.G3199A:p.D1067N,ENSG00000198842:ENST00000271385:exon6:c.G3199A:p.D1067N,ENSG00000198842:ENST00000361200:exon6:c.G3199A:p.D1067N NA NA 1q24.1 Score=735;Name=V$PPARA_01 NA NA NA rs61748784 0.07 0.07 0.05 0.0527157 0.1441 0.001 0.0965 0.0061 0.044 0.13 NA 0.13 0.01 0.101 0.14 0.04 D 0.001 B 0.002 B 0.002 N 1.000 P 1.95 M 3.94 T -1.019 T 0.006 T 0.006 0.282 5.526 4.38 1.223 0.856 8.777 0.281911 NA 0.02 0.138605 0.025193 NA 0.072 NA 11.9496284 465 3 57542173 57542173 C T exonic PDE12 NA nonsynonymous SNV PDE12:NM_177966:exon1:c.C67T:p.R23W exonic ENSG00000174840 NA nonsynonymous SNV ENSG00000174840:ENST00000311180:exon1:c.C67T:p.R23W,ENSG00000174840:ENST00000487257:exon1:c.C67T:p.R23W NA NA 3p14.3 NA Name=TAF1,Pol2-4H8,HEY1,GATA-1,Pol2(phosphoS2),Pol2,Pol2(b),YY1,YY1_(C-20),Mxi1_(bHLH) Name=148 NA rs2241988 0.39 0.39 0.401 0.387979 0.4722 0.4306 0.451 0.1437 0.5429 0.47 0.42 0.47 0.15 0.4723 0.47 0.06 T 0.987 D 0.431 B 0.020 N 0.991 P 1.245 L 1.78 T -0.889 T 0.000 T 0.088 1.752 11.82 3.66 2.641 3.766 10.908 1.751894 1.751894 0.02 0.440634 0.182749 NA 0.377 NA 11.9481994 465 10 88722398 88722398 A T exonic SNCG NA nonsynonymous SNV SNCG:NM_003087:exon4:c.A329T:p.E110V exonic ENSG00000173267 NA stoploss ENSG00000173267:ENST00000348795:exon4:c.A381T:p.X127C NA NA 10q23.2 NA Name=PU.1 Name=2 NA rs9864 0.18 0.18 0.17 0.203674 0.2336 0.0635 0.2233 0.1679 0.3517 0.24 0.07 0.26 0.17 0.2377 0.28 0.2 T 0.174 B 0.114 B 0.813 N 1.000 P 0.755 N -1.87 D -1.006 T 0.000 T 0.109 0.362 5.966 2.63 0.791 1.097 7.157 0.362125 NA 0.14 0.249302 0.187018 NA 0.268 NA 11.9460647 466 10 69933969 69933969 G A exonic MYPN NA nonsynonymous SNV MYPN:NM_032578:exon11:c.G2120A:p.S707N,MYPN:NM_001256267:exon12:c.G2120A:p.S707N,MYPN:NM_001256268:exon15:c.G1238A:p.S413N exonic ENSG00000138347 NA nonsynonymous SNV ENSG00000138347:ENST00000354393:exon11:c.G1295A:p.S432N,ENSG00000138347:ENST00000358913:exon11:c.G2120A:p.S707N,ENSG00000138347:ENST00000540630:exon11:c.G2120A:p.S707N Score=313;Name=lod=25 NA 10q21.3 Score=771;Name=V$ARNT_02 Name=CTCF NA NA rs7916821 0.34 0.34 0.327 0.32508 0.4851 0.2163 0.4035 0.1762 0.4182 0.49 0.23 0.42 0.21 0.4258 0.49 . . 0.091 B 0.068 B 0.088 N 0.000 P 1.1 L 0.44 T -0.933 T 0.000 T 0.104 1.68 11.58 4.68 2.832 0.501 8.752 1.680407 1.680407 0.29 0.479767 0.221743 NA 0.275 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000024491.2;CLNDSDB=.;CLNDSDBID=. 11.9426664 466 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 466 19 52619065 52619065 T C exonic ZNF616 NA nonsynonymous SNV ZNF616:NM_178523:exon4:c.A1352G:p.H451R exonic ENSG00000204611 NA nonsynonymous SNV ENSG00000204611:ENST00000600228:exon4:c.A1352G:p.H451R NA NA 19q13.41 NA Name=SETDB1,ZNF274,KAP1 Name=7 NA rs3764537 0.29 0.29 0.293 0.366414 0.0954 0.2262 0.2579 0.7277 0.3783 0.08 0.24 0.27 0.68 0.2006 0.68 0.45 T 0.004 B 0.005 B . . 1.000 P 0.855 L . . -0.943 T 0.000 T 0.025 -1.64 0.013 -2.15 -2.083 -1.917 3.949 -1.6401 NA 0.37 0.099302 0.622333 NA 0.348 NA 11.9380314 467 10 104934709 104934709 T C exonic NT5C2 NA nonsynonymous SNV NT5C2:NM_001134373:exon2:c.A7G:p.T3A,NT5C2:NM_012229:exon3:c.A7G:p.T3A exonic ENSG00000076685 NA nonsynonymous SNV ENSG00000076685:ENST00000404739:exon1:c.A7G:p.T3A,ENSG00000076685:ENST00000343289:exon2:c.A7G:p.T3A,ENSG00000076685:ENST00000452156:exon2:c.A7G:p.T3A,ENSG00000076685:ENST00000461461:exon2:c.A7G:p.T3A,ENSG00000076685:ENST00000470299:exon2:c.A7G:p.T3A Score=594;Name=lod=347 NA 10q24.33 NA NA NA NA rs10883841 0.1 0.1 0.096 0.0766773 0.1382 0.1528 0.0735 0.0098 0.0276 0.15 0.11 0.09 0.01 0.1138 0.15 0.12 T 0.004 B 0.001 B 0.000 D 0.000 P 0.55 N 2.27 T -1.037 T 0.000 T 0.288 2.828 15.42 5.3 1.986 6.255 14.224 2.827812 2.827812 0.04 0.14907 0.034044 NA 0.058 NA 11.9322634 467 13 92345579 92345579 C T exonic GPC5 NA nonsynonymous SNV GPC5:NM_004466:exon3:c.C464T:p.A155V exonic ENSG00000179399 NA nonsynonymous SNV ENSG00000179399:ENST00000377067:exon3:c.C464T:p.A155V Score=443;Name=lod=84 NA 13q31.3 NA NA NA NA rs553717 0.17 0.17 0.174 0.196885 0.1481 0.2897 0.1513 0.1936 0.1881 0.12 0.29 0.12 0.16 0.1402 0.29 0.04 D 0.013 B 0.014 B 0.006 N 0.064 P 1.445 L 0.59 T -1.066 T 0.000 T 0.039 2.621 14.72 4.19 1.044 2.728 11.209 2.620512 2.620512 0.02 0.112791 0.186564 NA 0.348 NA 11.9322424 467 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$STAT3_01 NA NA NA rs230898 0.42 0.42 0.392 0.427516 0.4652 0.4732 0.3919 0.2927 0.5491 0.5 0.47 0.39 0.25 0.4566 0.5 0.61 T 0.001 B 0.004 B 0.000 D 0.128 P 0.65 N 4.34 T -0.938 T 0.000 T 0.336 1.833 12.09 5.43 2.549 5.786 14.451 1.832668 1.832668 0.28 0.481047 0.326146 NA 0.478 NA 11.9304864 467 10 70641860 70641860 T C exonic STOX1 NA nonsynonymous SNV STOX1:NM_001130159:exon2:c.T457C:p.Y153H,STOX1:NM_001130160:exon2:c.T457C:p.Y153H,STOX1:NM_001130161:exon2:c.T457C:p.Y153H,STOX1:NM_001130162:exon2:c.T127C:p.Y43H,STOX1:NM_152709:exon2:c.T457C:p.Y153H exonic ENSG00000165730 NA nonsynonymous SNV ENSG00000165730:ENST00000298596:exon2:c.T457C:p.Y153H,ENSG00000165730:ENST00000399162:exon2:c.T457C:p.Y153H,ENSG00000165730:ENST00000399165:exon2:c.T457C:p.Y153H,ENSG00000165730:ENST00000399169:exon2:c.T457C:p.Y153H,ENSG00000165730:ENST00000421961:exon2:c.T127C:p.Y43H Score=429;Name=lod=74 NA 10q22.1 Score=820;Name=V$HNF1_C NA NA NA rs1341667 0.63 0.63 0.606 0.61242 0.6412 0.9008 0.6081 0.3835 0.5982 0.65 0.9 0.55 0.35 0.6231 0.9 0.29 T 0.687 P 0.231 B 0.000 U 0.076 P 0.975 L -1.03 T -0.992 T 0.000 T 0.414 1.92 12.38 4.44 1.055 3.031 11.605 1.919961 1.919961 0.29 0.641685 0.416304 NA 0.565 CLINSIG=other;CLNDBN=Preeclampsia/eclampsia_4;CLNREVSTAT=single;CLNACC=RCV000001789.1;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C1836255:609404:ORPHA275555 11.9273484 467 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 467 11 6129837 6129837 C T exonic OR56B4 NA nonsynonymous SNV OR56B4:NM_001005181:exon1:c.C829T:p.P277S exonic ENSG00000180919 NA nonsynonymous SNV ENSG00000180919:ENST00000316529:exon1:c.C829T:p.P277S NA NA 11p15.4 NA NA NA NA rs1462983 0.49 0.49 0.451 0.503994 0.4463 0.8839 0.6023 0.1029 0.6442 0.44 0.86 0.53 0.12 0.5077 0.86 0.01 D 0.999 D 0.987 D 0.002 U 1.000 P 1.155 L 8.82 T -1.093 T 0.000 T 0.085 1.026 9.19 4.01 2.220 1.001 13.637 1.025691 NA 0.01 0.452863 0.17174 NA 0.442 NA 11.9264704 468 1 247614386 247614386 T C exonic OR2B11 NA nonsynonymous SNV OR2B11:NM_001004492:exon1:c.A899G:p.D300G exonic ENSG00000177535 NA nonsynonymous SNV ENSG00000177535:ENST00000318749:exon1:c.A899G:p.D300G Score=468;Name=lod=106 NA 1q44 NA NA NA NA rs12070953 0.12 0.12 0.118 0.112021 0.1352 0.001 0.1758 0.1967 0.0429 0.13 0.0017 0.18 0.22 0.1286 0.22 0 D 0.001 B 0.001 B 0.002 N 0.197 P 3.64 H 1.07 T -1.081 T 0.000 T 0.119 0.552 6.987 2.72 0.472 5.022 5.604 0.552289 NA 0.04 0.145233 0.199728 NA 0.094 NA 11.9243004 468 17 7155861 7155861 G A exonic ELP5 NA nonsynonymous SNV ELP5:NM_203414:exon1:c.G40A:p.E14K,ELP5:NM_015362:exon2:c.G40A:p.E14K,ELP5:NM_203413:exon2:c.G40A:p.E14K,ELP5:NM_203415:exon2:c.G40A:p.E14K exonic ENSG00000170291 NA nonsynonymous SNV ENSG00000170291:ENST00000396628:exon1:c.G40A:p.E14K,ENSG00000170291:ENST00000573657:exon1:c.G40A:p.E14K,ENSG00000170291:ENST00000574993:exon1:c.G40A:p.E14K,ENSG00000170291:ENST00000354429:exon2:c.G40A:p.E14K,ENSG00000170291:ENST00000356683:exon2:c.G40A:p.E14K,ENSG00000170291:ENST00000396627:exon2:c.G40A:p.E14K,ENSG00000170291:ENST00000570500:exon2:c.G40A:p.E14K,ENSG00000170291:ENST00000573513:exon2:c.G40A:p.E14K,ENSG00000170291:ENST00000573699:exon2:c.G40A:p.E14K,ENSG00000170291:ENST00000574255:exon2:c.G40A:p.E14K NA NA 17p13.1 NA Name=YY1_(C-20),Rad21,c-Myc,Oct-2,SRF,Sin3Ak-20,SIX5,PAX5-C20,TBP,ERRA,AP-2gamma,YY1,CEBPB,ZNF263,GR,JunD,SMC3_(ab9263),Pol2,TCF12,POU2F2,CTCF,CTCF_(C-20),ZEB1_(SC-25388),TAF1,Pol2-4H8,GABP,HEY1,KAP1,ELF1_(SC-631),ATF3 Name=139 NA rs2521988 0.07 0.07 0.08 0.0804712 0.1421 0.0367 0.049 0.0068 0.184 0.15 0.04 0.05 0.01 0.1322 0.15 0.27 T 0.0 B 0.0 B 0.000 N 1.000 P 0.55 N 1.49 T -1.097 T 0.000 T 0.396 -1.126 0.121 -6.95 -5.095 -3.798 1.568 -1.125829 NA 0.09 0.137558 0.027463 NA 0.051 NA 11.9214754 468 10 46143958 46143958 T G exonic ZFAND4 NA nonsynonymous SNV ZFAND4:NM_001128324:exon5:c.A353C:p.K118T,ZFAND4:NM_174890:exon5:c.A353C:p.K118T exonic ENSG00000172671 NA nonsynonymous SNV ENSG00000172671:ENST00000344646:exon5:c.A353C:p.K118T,ENSG00000172671:ENST00000374371:exon5:c.A353C:p.K118T,ENSG00000172671:ENST00000465407:exon5:c.A353C:p.K118T,ENSG00000172671:ENST00000374366:exon6:c.A131C:p.K44T Score=591;Name=lod=335 NA 10q11.22 NA NA NA NA rs17854567 0.09 0.09 0.081 0.0988419 0.1521 0.0317 0.2205 0.0068 0.1513 0.15 0.02 0.19 0.01 0.1338 0.19 0 D 0.094 B 0.014 B 0.036 N 0.000 P 0.345 N 1.96 T -1.098 T 0.000 T 0.197 3.113 16.4 5.78 2.198 4.665 14.066 3.113419 3.113419 0.02 0.127209 0.030186 NA 0.08 NA 11.9202244 468 14 44974966 44974966 G A exonic FSCB NA nonsynonymous SNV FSCB:NM_032135:exon1:c.C1225T:p.P409S exonic ENSG00000189139 NA nonsynonymous SNV ENSG00000189139:ENST00000340446:exon1:c.C1225T:p.P409S NA NA 14q21.2 NA Name=CTCF,Rad21 Name=5 NA rs1959379 0.25 0.25 0.242 0.271166 0.1193 0.3968 0.3055 0.2859 0.2536 0.11 0.39 0.27 0.28 0.1867 0.39 0.26 T 0.002 B 0.003 B . . 1.000 P 1.355 L 2.12 T -0.931 T 0.000 T 0.031 0.536 6.9 -8.33 -1.724 -2.632 3.309 0.535552 NA 0.7 0.108564 0.261255 NA 0.217 NA 11.9187694 468 13 21189941 21189941 G A exonic IFT88 NA nonsynonymous SNV IFT88:NM_006531:exon14:c.G1122A:p.M374I,IFT88:NM_175605:exon16:c.G1149A:p.M383I exonic ENSG00000032742 NA nonsynonymous SNV ENSG00000032742:ENST00000537103:exon13:c.G1065A:p.M355I,ENSG00000032742:ENST00000351808:exon14:c.G1122A:p.M374I,ENSG00000032742:ENST00000382778:exon15:c.G1149A:p.M383I,ENSG00000032742:ENST00000319980:exon16:c.G1149A:p.M383I Score=637;Name=lod=516 NA 13q12.11 NA NA NA NA rs2442455 0.13 0.13 0.124 0.129992 0.1382 NA 0.134 0.2776 0.0532 0.13 NA 0.15 0.28 0.1321 0.28 0.21 T 0.023 B 0.006 B 0.001 D 0.097 P 0.55 N 1.6 T -1.015 T 0.000 T 0.195 2.419 14.05 4.74 2.625 3.179 9.753 2.419414 2.419414 0.46 0.147114 0.248298 NA 0.145 NA 11.9159194 469 2 179644855 179644855 T C exonic TTN NA nonsynonymous SNV TTN:NM_003319:exon21:c.A3463G:p.K1155E,TTN:NM_133432:exon21:c.A3463G:p.K1155E,TTN:NM_133437:exon21:c.A3463G:p.K1155E,TTN:NM_001256850:exon22:c.A3601G:p.K1201E,TTN:NM_001267550:exon22:c.A3601G:p.K1201E,TTN:NM_133378:exon22:c.A3601G:p.K1201E,TTN:NM_133379:exon22:c.A3601G:p.K1201E exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000342175:exon21:c.A3463G:p.K1155E,ENSG00000155657:ENST00000359218:exon21:c.A3463G:p.K1155E,ENSG00000155657:ENST00000460472:exon21:c.A3463G:p.K1155E,ENSG00000155657:ENST00000342992:exon22:c.A3601G:p.K1201E,ENSG00000155657:ENST00000360870:exon22:c.A3601G:p.K1201E,ENSG00000155657:ENST00000589042:exon22:c.A3601G:p.K1201E,ENSG00000155657:ENST00000591111:exon22:c.A3601G:p.K1201E Score=596;Name=lod=354 NA 2q31.2 NA NA NA NA rs10497520 0.55 0.55 0.539 0.5002 0.8569 0.2173 0.5086 0.4077 0.544 0.87 0.2 0.6 0.43 0.6944 0.87 0 D 0.86 P 0.453 P . . 0.796 P 0.695 N 0.37 T -1.063 T 0.000 T 0.588 2.748 15.15 4.56 2.204 4.116 12.647 2.748077 2.748077 0.45 0.870233 0.470722 NA 0.609 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040243.2|RCV000126001.1;CLNDSDB=.|.;CLNDSDBID=.|. 11.9118004 469 12 661656 661656 A G exonic B4GALNT3 NA nonsynonymous SNV B4GALNT3:NM_173593:exon13:c.A1232G:p.K411R exonic ENSG00000139044 NA nonsynonymous SNV ENSG00000139044:ENST00000322843:exon11:c.A938G:p.K313R,ENSG00000139044:ENST00000266383:exon13:c.A1232G:p.K411R Score=487;Name=lod=127 NA 12p13.33 NA NA NA NA rs7298766 0.26 0.26 0.264 0.272165 0.329 0.1726 0.2349 0.3026 0.3016 0.31 0.15 0.28 0.31 0.2875 0.33 0.02 D 0.911 P 0.382 B 0.014 N 0.301 P 1.995 M 2.95 T -1.003 T 0.000 T 0.185 3.169 16.6 4.3 0.885 4.437 9.559 3.168671 3.168671 0.02 0.305581 0.331139 NA 0.326 NA 11.9112524 469 3 102181131 102181131 A G exonic ZPLD1 NA nonsynonymous SNV ZPLD1:NM_175056:exon6:c.A637G:p.T213A exonic ENSG00000170044 NA nonsynonymous SNV ENSG00000170044:ENST00000306176:exon6:c.A637G:p.T213A,ENSG00000170044:ENST00000466937:exon7:c.A589G:p.T197A,ENSG00000170044:ENST00000491959:exon13:c.A589G:p.T197A Score=522;Name=lod=177 NA 3q12.3 NA NA NA NA rs12054046 0.1 0.1 0.08 0.0960463 0.1372 0.0357 0.1585 0.0893 0.0808 0.14 0.03 0.16 0.08 0.1343 0.16 0.21 T 0.037 B 0.026 B 0.000 D 0.002 P 0.375 N -1.56 D -1.036 T 0.002 T 0.158 1.707 11.67 4.09 0.797 2.357 11.318 1.707151 1.707151 0.21 0.154455 0.091693 NA 0.087 NA 11.9073784 469 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=YY1_(C-20),TCF4,c-Myc,Sin3Ak-20,GR,Pol2,HA-E2F1,CTCF,NFKB,ELF1_(SC-631) 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 470 15 42150888 42150888 G A exonic SPTBN5 NA nonsynonymous SNV SPTBN5:NM_016642:exon49:c.C8138T:p.T2713I exonic ENSG00000137877 NA nonsynonymous SNV ENSG00000137877:ENST00000320955:exon49:c.C8138T:p.T2713I Score=313;Name=lod=25 NA 15q15.1 NA NA NA NA rs890503 0.21 0.21 0.224 0.226238 0.325 0.0357 0.2061 0.295 0.2423 0.31 0.02 0.21 0.27 0.2903 0.31 0.56 T 0.523 P 0.212 B 0.000 D 0.986 P 0.205 N 0.89 T -0.959 T 0.000 T 0.095 1.345 10.42 4.03 1.067 5.383 10.490 1.34544 1.34544 0.08 0.313527 0.308871 ID=COSM86376;OCCURENCE=1(ovary),1(prostate),1(lung) 0.232 NA 11.9045064 470 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 470 9 18777196 18777196 A C exonic ADAMTSL1 NA nonsynonymous SNV ADAMTSL1:NM_001040272:exon19:c.A2969C:p.E990A exonic ENSG00000178031 NA nonsynonymous SNV ENSG00000178031:ENST00000380548:exon19:c.A2969C:p.E990A Score=473;Name=lod=112 NA 9p22.1 NA NA NA NA rs41268983 0.1 0.1 0.094 0.091254 0.1431 0.122 0.0749 0.0113 0.1258 0.15 0.1 0.08 0.01 0.1375 0.15 0.48 T 0.952 P 0.53 P 0.575 N 0.000 P 0.345 N -0.04 T -1.057 T 0.001 T 0.247 1.821 12.05 5.75 2.199 4.474 16.049 1.82126 1.82126 0.14 0.154381 0.037731 NA 0.145 NA 11.8983524 470 12 122405912 122405912 G T exonic WDR66 NA nonsynonymous SNV WDR66:NM_001178003:exon17:c.G2608T:p.V870L,WDR66:NM_144668:exon17:c.G2608T:p.V870L exonic ENSG00000158023 NA nonsynonymous SNV ENSG00000158023:ENST00000288912:exon17:c.G2608T:p.V870L,ENSG00000158023:ENST00000397454:exon17:c.G2608T:p.V870L Score=397;Name=lod=55 NA 12q24.31 NA NA NA NA rs1169081 0.31 0.31 0.296 0.294329 0.3121 0.4702 0.3631 0.0877 0.3252 0.32 0.48 0.34 0.09 0.3246 0.48 . . 0.518 P 0.241 B 0.000 D 0.000 P 1.74 L 1.31 T -0.911 T 0.000 T 0.292 3.299 17.08 5.19 2.420 5.134 18.708 3.298504 3.298504 0.14 0.300992 0.11034 NA 0.239 NA 11.8956414 471 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$E47_01 NA NA NA rs2302234 0.38 0.38 0.352 0.357827 0.3121 0.5446 0.4481 0.2716 0.2648 0.3 0.53 0.43 0.27 0.3236 0.53 0.79 T 0.811 P 0.341 B 0.003 N 0.000 P 0.965 L . . -0.988 T 0.000 T 0.12 1.849 12.14 5.02 2.873 2.510 16.842 1.848673 1.848673 0.26 0.303023 0.274172 NA 0.413 NA 11.8946104 471 9 109689752 109689752 C T exonic ZNF462 NA nonsynonymous SNV ZNF462:NM_021224:exon3:c.C3559T:p.P1187S exonic ENSG00000148143 NA nonsynonymous SNV ENSG00000148143:ENST00000374686:exon1:c.C208T:p.P70S,ENSG00000148143:ENST00000441147:exon1:c.C94T:p.P32S,ENSG00000148143:ENST00000277225:exon3:c.C3559T:p.P1187S,ENSG00000148143:ENST00000457913:exon3:c.C3559T:p.P1187S Score=605;Name=lod=384 NA 9q31.2 NA NA NA NA rs3814541 0.1 0.1 0.091 0.103634 0.162 0.0794 0.0908 0.0151 0.1973 0.18 0.08 0.11 0.02 0.1331 0.18 0.14 T 0.062 B 0.046 B 0.000 D 0.000 P 1.87 L 3.93 T -1.000 T 0.000 T 0.078 1.335 10.38 5.37 2.513 3.028 13.411 1.33508 1.33508 0 0.145698 0.030413 NA 0.101 NA 11.8925354 471 7 121513561 121513561 T G exonic PTPRZ1 NA nonsynonymous SNV PTPRZ1:NM_001206838:exon1:c.T8G:p.I3S,PTPRZ1:NM_001206839:exon1:c.T8G:p.I3S,PTPRZ1:NM_002851:exon1:c.T8G:p.I3S exonic ENSG00000106278 NA nonsynonymous SNV ENSG00000106278:ENST00000393386:exon1:c.T8G:p.I3S,ENSG00000106278:ENST00000449182:exon1:c.T8G:p.I3S NA NA 7q31.32 Score=884;Name=V$OCT1_Q6 Name=ZNF263 Name=20 NA rs740965 0.16 0.16 0.145 0.16274 0.1243 0.3026 0.2305 0.0136 0.2117 0.11 0.31 0.2 0.02 0.1647 0.31 0 D 0.02 B 0.012 B 0.056 N 1.000 P 0.55 N 0.65 T -0.991 T 0.000 T 0.219 2.049 12.81 -2.66 -0.449 0.488 4.605 2.049157 2.049157 0 0.15314 0.043577 NA 0.123 NA 11.8911934 472 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$SEF1_C NA Name=11 Score=94;Name=2047481_0_+_94 rs2653349 0.87 0.87 0.87 0.878794 0.8161 0.9375 0.8761 0.8926 0.8661 0.81 0.94 0.87 0.88 0.8393 0.94 1 T 0.0 B 0.001 B 0.000 N 0.998 P -0.545 N 1.36 T -1.041 T 0.014 T 0.092 1.136 9.629 6.06 1.590 7.443 15.685 1.135918 NA 1 0.793605 0.884476 NA 0.891 NA 11.8843284 472 15 45444133 45444133 T C exonic DUOX1 NA nonsynonymous SNV DUOX1:NM_175940:exon24:c.T3076C:p.C1026R,DUOX1:NM_017434:exon25:c.T3076C:p.C1026R exonic ENSG00000137857 NA nonsynonymous SNV ENSG00000137857:ENST00000561166:exon14:c.T2014C:p.C672R,ENSG00000137857:ENST00000389037:exon24:c.T3076C:p.C1026R,ENSG00000137857:ENST00000321429:exon25:c.T3076C:p.C1026R Score=397;Name=lod=55 NA 15q21.1 Score=763;Name=V$MIF1_01 NA NA NA rs16939752 0.27 0.27 0.259 0.302915 0.1292 0.4167 0.1945 0.3245 0.4121 0.12 0.44 0.21 0.36 0.204 0.44 0.37 T 0.0 B 0.0 B 0.002 N 0.872 P -1.355 N -1.88 D -0.963 T 0.000 T 0.119 1.379 10.54 3.25 0.519 2.047 3.889 1.378582 1.378582 0.5 0.115868 0.267288 ID=COSM147896;OCCURENCE=1(stomach) 0.232 NA 11.8842654 472 15 84611367 84611367 G C exonic ADAMTSL3 NA nonsynonymous SNV ADAMTSL3:NM_207517:exon18:c.G2137C:p.G713R exonic ENSG00000156218 NA nonsynonymous SNV ENSG00000156218:ENST00000286744:exon18:c.G2137C:p.G713R,ENSG00000156218:ENST00000567476:exon18:c.G2137C:p.G713R Score=363;Name=lod=40 NA 15q25.2 NA Name=PAX5-C20 NA NA rs34047645 0.08 0.08 0.07 0.0541134 0.168 0.001 0.0879 0.0076 0.0307 0.17 NA 0.09 0.01 0.123 0.17 0.24 T 0.031 B 0.046 B 0.052 N 0.004 P 0.495 N 0.6 T -1.086 T 0.000 T 0.233 1.411 10.65 3.61 1.409 3.442 4.223 1.410885 1.410885 0.15 0.159186 0.036541 NA 0.065 NA 11.8831474 472 5 140589738 140589738 C T exonic PCDHB12 NA nonsynonymous SNV PCDHB12:NM_018932:exon1:c.C1259T:p.T420I exonic ENSG00000120328 NA nonsynonymous SNV ENSG00000120328:ENST00000239450:exon1:c.C1259T:p.T420I,ENSG00000120328:ENST00000541609:exon2:c.C248T:p.T83I Score=374;Name=lod=44 NA 5q31.3 NA NA NA NA rs2910327 0.12 0.12 0.105 0.120008 0.1412 0.0933 0.0937 0.1036 0.1667 0.15 0.09 0.12 0.1 0.1463 0.16 0 D 0.118 B 0.247 B . . 0.075 P 2.88 M 3.96 T -1.123 T 0.000 T 0.663 2.551 14.49 2.96 0.730 2.700 10.889 2.550541 2.550541 0 0.164186 0.118702 NA 0.109 NA 11.8816474 472 10 51827934 51827934 G A exonic FAM21A NA nonsynonymous SNV FAM21A:NM_001005751:exon2:c.G73A:p.V25M exonic ENSG00000099290 NA nonsynonymous SNV ENSG00000099290:ENST00000282633:exon2:c.G73A:p.V25M,ENSG00000099290:ENST00000314664:exon2:c.G73A:p.V25M,ENSG00000099290:ENST00000351071:exon2:c.G73A:p.V25M,ENSG00000099290:ENST00000434114:exon2:c.G73A:p.V25M Score=590;Name=lod=333 NA 10q11.23 Score=777;Name=V$PAX5_01 NA NA NA rs55875820 0.31 0.31 0.188 0.307508 0.5189 0.3304 0.3213 0.0681 0.3804 0.45 0.33 0.31 0.07 0.4623 0.47 0.01 D 0.288 B 0.188 B 0.001 D 0.000 P 1.85 L . . -0.916 T 0.000 T 0.125 2.291 13.62 1.65 1.523 2.625 6.653 2.291169 2.291169 0.07 0.471111 0.138636 ID=COSM427651;OCCURENCE=1(breast) 0.036 NA 11.8810224 472 1 26487940 26487940 A G exonic FAM110D NA nonsynonymous SNV FAM110D:NM_024869:exon2:c.A158G:p.H53R exonic ENSG00000197245 NA nonsynonymous SNV ENSG00000197245:ENST00000374268:exon2:c.A158G:p.H53R Score=414;Name=lod=64 NA 1p36.11 NA Name=Egr-1,E2F6_(H-50) NA NA rs3748856 0.23 0.23 0.193 0.1877 0.325 0.2718 0.2305 0.0401 0.1288 0.33 0.25 0.23 0.04 0.331 0.33 0.41 T 0.677 P 0.326 B 0.070 U 0.894 P 0.14 N 1.08 T -0.947 T 0.000 T 0.096 -0.519 1.632 4.42 1.993 1.046 13.078 -0.518641 NA 1 0.297195 0.069171 NA 0.174 NA 11.8801384 472 11 57995777 57995777 G A exonic OR10Q1 NA nonsynonymous SNV OR10Q1:NM_001004471:exon1:c.C571T:p.R191C exonic ENSG00000180475 NA nonsynonymous SNV ENSG00000180475:ENST00000316770:exon1:c.C571T:p.R191C NA NA 11q12.1 Score=775;Name=V$AHR_01 NA NA NA rs11229301 0.15 0.15 0.127 0.154952 0.163 0.123 0.1873 0.1513 0.1616 0.16 0.14 0.2 0.11 0.1519 0.2 0.01 D 0.241 B 0.094 B 0.001 D 1.000 P 2.515 M 8.65 T -0.975 T 0.000 T 0.269 0.359 5.949 1.43 0.113 -1.080 6.748 0.359011 NA 0.02 0.139581 0.141754 NA 0.138 NA 11.8788524 472 1 46827456 46827456 A G exonic NSUN4 NA nonsynonymous SNV NSUN4:NM_001256127:exon6:c.A946G:p.I316V,NSUN4:NM_001256128:exon6:c.A946G:p.I316V,NSUN4:NM_199044:exon6:c.A1093G:p.I365V exonic ENSG00000117481 NA nonsynonymous SNV ENSG00000117481:ENST00000474844:exon6:c.A1093G:p.I365V,ENSG00000117481:ENST00000537428:exon6:c.A946G:p.I316V,ENSG00000117481:ENST00000536062:exon7:c.A946G:p.I316V Score=493;Name=lod=134 NA 1p33 Score=854;Name=V$IK3_01 NA NA NA rs9865 0.16 0.16 0.144 0.203674 0.1501 0.2798 0.1254 0.0552 0.4366 0.13 0.3 0.14 0.04 0.1716 0.3 0.32 T 0.001 B 0.004 B 0.003 N 0.226 P 0.965 L 3.02 T -0.906 T 0.000 T 0.083 1.376 10.53 3.01 1.038 1.173 6.612 1.375749 1.375749 NA 0.134884 0.063777 NA 0.13 NA 11.8767494 472 19 7573287 7573287 C T exonic C19orf45 NA nonsynonymous SNV C19orf45:NM_198534:exon9:c.C1489T:p.P497S exonic ENSG00000198723 NA nonsynonymous SNV ENSG00000198723:ENST00000361664:exon9:c.C1489T:p.P497S NA NA 19p13.2 Score=812;Name=V$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 472 14 60585131 60585131 A G exonic PCNXL4 NA nonsynonymous SNV PCNXL4:NM_022495:exon6:c.A961G:p.K321E exonic ENSG00000126773 NA nonsynonymous SNV ENSG00000126773:ENST00000317623:exon6:c.A961G:p.K321E,ENSG00000126773:ENST00000404681:exon6:c.A1663G:p.K555E,ENSG00000126773:ENST00000406949:exon6:c.A961G:p.K321E,ENSG00000126773:ENST00000406854:exon7:c.A1663G:p.K555E Score=464;Name=lod=103 NA 14q23.1 NA NA NA NA rs308998 0.28 0.28 NA 0.341054 0.1183 0.3462 0.1398 0.5794 0.3855 0.11 0.34 0.15 0.55 0.2135 0.55 0.41 T 0.015 B 0.011 B . . 0.000 P 2.42 M 1.74 T -0.956 T 0.000 T 0.251 3.375 17.38 4.93 1.116 5.726 12.334 3.374655 3.374655 0.22 0.12538 0.486781 NA 0.225 NA 11.8761534 472 12 53681883 53681883 A T exonic ESPL1 NA nonsynonymous SNV ESPL1:NM_012291:exon19:c.A4304T:p.K1435M exonic ENSG00000135476 NA nonsynonymous SNV ENSG00000135476:ENST00000257934:exon19:c.A4304T:p.K1435M,ENSG00000135476:ENST00000552462:exon19:c.A4304T:p.K1435M Score=259;Name=lod=15 NA 12q13.13 NA Name=CTCF NA NA rs1110719 0.9 0.9 0.875 0.877995 0.997 1 0.9712 0.5552 1 1 1 0.97 0.58 0.9633 1 0.02 D 0.761 P 0.275 B 0.286 N 0.032 P 2.075 M 2.52 T -0.993 T 0.000 T 0.491 2.911 15.7 3.65 1.067 1.442 6.541 2.910732 2.910732 0.03 0.996977 0.611893 ID=COSM431383;OCCURENCE=1(breast) 0.862 NA 11.8760564 472 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 472 10 69926334 69926334 C G exonic MYPN NA nonsynonymous SNV MYPN:NM_032578:exon10:c.C1884G:p.F628L,MYPN:NM_001256267:exon11:c.C1884G:p.F628L,MYPN:NM_001256268:exon14:c.C1002G:p.F334L exonic ENSG00000138347 NA nonsynonymous SNV ENSG00000138347:ENST00000354393:exon10:c.C1059G:p.F353L,ENSG00000138347:ENST00000358913:exon10:c.C1884G:p.F628L,ENSG00000138347:ENST00000540630:exon10:c.C1884G:p.F628L Score=265;Name=lod=16 NA 10q21.3 NA NA NA NA rs10823148 0.34 0.34 0.328 0.316494 0.5099 0.2163 0.4049 0.1104 0.4366 0.51 0.22 0.43 0.13 0.4383 0.51 . . 0.005 B 0.009 B 0.000 D 0.000 P 0.69 N 0.57 T -0.929 T 0.000 T 0.218 -0.778 0.738 4.3 2.455 2.051 7.614 -0.777515 NA 0.29 0.509535 0.174308 NA 0.326 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000024497.2;CLNDSDB=.;CLNDSDBID=. 11.8755984 473 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 474 18 43252883 43252883 G A exonic SLC14A2 NA nonsynonymous SNV SLC14A2:NM_007163:exon17:c.G2248A:p.V750I,SLC14A2:NM_001242692:exon18:c.G2248A:p.V750I exonic ENSG00000132874 NA nonsynonymous SNV ENSG00000132874:ENST00000589658:exon6:c.G679A:p.V227I,ENSG00000132874:ENST00000255226:exon17:c.G2248A:p.V750I,ENSG00000132874:ENST00000586448:exon18:c.G2248A:p.V750I Score=483;Name=lod=122 NA 18q12.3 NA NA NA NA rs1123617 0.17 0.17 0.172 0.170327 0.1551 0.3115 0.1729 0.0658 0.18 0.15 0.29 0.17 0.08 0.1652 0.29 0.15 T 0.889 P 0.459 P 0.035 N 0.000 P 1.99 M 0.71 T -1.057 T 0.000 T 0.164 2.999 16 4.01 0.803 3.901 11.608 2.999037 2.999037 0.39 0.151744 0.087608 NA 0.312 NA 11.8612894 474 10 96493058 96493058 C T exonic CYP2C18 NA nonsynonymous SNV CYP2C18:NM_001128925:exon7:c.C977T:p.T326M,CYP2C18:NM_000772:exon8:c.C1154T:p.T385M exonic ENSG00000108242 NA nonsynonymous SNV ENSG00000108242:ENST00000339022:exon7:c.C977T:p.T326M,ENSG00000108242:ENST00000285979:exon8:c.C1154T:p.T385M NA NA 10q23.33 NA NA NA NA rs1126545 0.2 0.2 0.187 0.21885 0.1451 0.3135 0.1023 0.1611 0.3579 0.15 0.33 0.13 0.16 0.1837 0.33 0.02 D 1.0 D 0.975 D 0.000 N 0.000 P 3.225 M -0.8 T -1.083 T 0.000 T 0.058 1.877 12.24 0.102 -0.177 3.922 7.916 1.877472 1.877472 0 0.148256 0.16364 NA 0.196 NA 11.8562774 474 4 77053834 77053834 T C exonic NUP54 NA nonsynonymous SNV NUP54:NM_017426:exon6:c.A749G:p.N250S exonic ENSG00000138750 NA nonsynonymous SNV ENSG00000138750:ENST00000458189:exon5:c.A209G:p.N70S,ENSG00000138750:ENST00000514987:exon5:c.A605G:p.N202S,ENSG00000138750:ENST00000264883:exon6:c.A749G:p.N250S,ENSG00000138750:ENST00000342467:exon6:c.A209G:p.N70S Score=571;Name=lod=278 NA 4q21.1 NA NA NA NA rs61750814 0.15 0.15 0.146 0.141374 0.172 0.0278 0.2248 0.2156 0.0675 0.16 0.03 0.24 0.19 0.1496 0.24 0.39 T 0.138 B 0.033 B 0.000 D 0.000 P 1.295 L . . -1.081 T 0.000 T 0.058 1.901 12.31 5.46 2.087 5.857 15.541 1.900725 1.900725 0.25 0.156163 0.204267 NA 0.196 NA 11.8555704 475 17 71426670 71426670 G A exonic SDK2 NA synonymous SNV SDK2:NM_001144952:exon12:c.C1563T:p.H521H exonic ENSG00000069188 NA synonymous SNV ENSG00000069188:ENST00000388726:exon12:c.C1563T:p.H521H,ENSG00000069188:ENST00000392650:exon12:c.C1563T:p.H521H Score=599;Name=lod=362 NA 17q25.1 Score=762;Name=V$TAXCREB_02 Name=FOXA2_(SC-6554),FOXA1_(C-20),FOXA1_(SC-101058) Name=10 NA rs1105354 0.17 0.17 0.149 0.132588 0.2903 0.0655 0.1974 0.0431 0.1145 0.3 0.07 0.2 0.05 0.255 0.3 . . . . . . . . 0.000 P . . . . . . . . . -0.504 1.692 -5.92 -1.056 -0.479 13.517 -0.503757 NA NA 0.268721 0.083749 NA 0.094 NA 11.8526456 475 12 54109659 54109659 C T exonic CALCOCO1 NA nonsynonymous SNV CALCOCO1:NM_001143682:exon8:c.G923A:p.R308K,CALCOCO1:NM_020898:exon9:c.G1178A:p.R393K exonic ENSG00000012822 NA nonsynonymous SNV ENSG00000012822:ENST00000430117:exon8:c.G923A:p.R308K,ENSG00000012822:ENST00000262059:exon9:c.G1178A:p.R393K,ENSG00000012822:ENST00000548263:exon9:c.G1178A:p.R393K,ENSG00000012822:ENST00000550804:exon9:c.G1178A:p.R393K Score=519;Name=lod=171 NA 12q13.13 NA NA NA NA rs3741659 0.19 0.19 0.207 0.17492 0.17 0.2698 0.1354 0.1203 0.184 0.16 0.32 0.13 0.12 0.1731 0.32 0.48 T 0.219 B 0.054 B 0.000 D 0.791 P 0.405 N 3.04 T -0.889 T 0.000 T 0.141 2.154 13.16 4.91 2.713 2.970 7.543 2.154064 2.154064 0.39 0.138256 0.131866 NA 0.254 NA 11.8519774 476 14 35735967 35735967 A G exonic KIAA0391 NA nonsynonymous SNV KIAA0391:NM_001256681:exon4:c.A194G:p.N65S,KIAA0391:NM_001256678:exon5:c.A1262G:p.N421S,KIAA0391:NM_001256680:exon5:c.A194G:p.N65S,KIAA0391:NM_001256679:exon6:c.A1025G:p.N342S,KIAA0391:NM_014672:exon6:c.A1310G:p.N437S exonic ENSG00000100890,ENSG00000258790 NA nonsynonymous SNV ENSG00000100890:ENST00000557404:exon4:c.A194G:p.N65S,ENSG00000100890:ENST00000321130:exon5:c.A1262G:p.N421S,ENSG00000100890:ENST00000603544:exon5:c.A1262G:p.N421S,ENSG00000100890:ENST00000605870:exon5:c.A194G:p.N65S,ENSG00000100890:ENST00000250377:exon6:c.A1025G:p.N342S,ENSG00000100890:ENST00000534898:exon6:c.A1310G:p.N437S,ENSG00000258790:ENST00000557565:exon6:c.A1310G:p.N437S,ENSG00000100890:ENST00000604948:exon6:c.A1025G:p.N342S Score=369;Name=lod=42 NA 14q13.2 NA NA NA NA rs11156878 0.1 0.1 0.097 0.0974441 0.1879 0.0595 0.1268 0.0318 0.1115 0.17 0.05 0.14 0.04 0.1354 0.17 0.36 T 0.134 B 0.108 B 0.000 D 0.255 P 1.475 L 1.0 T -1.071 T 0.000 T 0.095 2.675 14.91 5.62 2.142 5.276 14.815 2.675032 2.675032 0.27 0.16814 0.060826 NA 0.072 NA 11.8418934 476 3 44948479 44948479 C T exonic TGM4 NA nonsynonymous SNV TGM4:NM_003241:exon10:c.C1114T:p.R372C exonic ENSG00000163810 NA nonsynonymous SNV ENSG00000163810:ENST00000296125:exon10:c.C1114T:p.R372C Score=272;Name=lod=17 NA 3p21.31 NA NA NA NA rs3749195 0.63 0.63 0.65 0.674521 0.4463 0.8869 0.5807 0.671 0.7618 0.46 0.89 0.55 0.65 0.5714 0.89 0 D 0.98 D 0.427 B 0.295 U 0.596 P 2.635 M 1.94 T -1.079 T 0.000 T 0.193 1.805 12 2.03 1.039 -0.551 9.088 1.805339 1.805339 0 0.473953 0.646391 NA 0.638 NA 11.8416804 476 14 93399101 93399101 C T exonic CHGA NA nonsynonymous SNV CHGA:NM_001275:exon7:c.C1195T:p.R399W exonic ENSG00000100604 NA nonsynonymous SNV ENSG00000100604:ENST00000334654:exon6:c.C742T:p.R248W,ENSG00000100604:ENST00000216492:exon7:c.C1195T:p.R399W NA NA 14q32.12 Score=778;Name=V$YY1_02 NA NA NA rs729940 0.15 0.15 0.093 0.124401 0.164 0.2004 0.2061 0.0121 0.0992 0.16 0.2 0.23 0.02 0.1883 0.23 0.04 D 1.0 D 0.971 D 0.674 N 1.000 P 2.175 M 4.62 T -0.926 T 0.000 T 0.064 2.13 13.08 1.2 0.327 0.516 6.236 2.129737 2.129737 0.03 0.140845 0.033992 NA 0.08 NA 11.8401884 477 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 477 17 56436109 56436109 C T exonic RNF43 NA nonsynonymous SNV RNF43:NM_017763:exon9:c.G1028A:p.R343H exonic ENSG00000108375 NA nonsynonymous SNV ENSG00000108375:ENST00000583753:exon7:c.G905A:p.R302H,ENSG00000108375:ENST00000500597:exon8:c.G905A:p.R302H,ENSG00000108375:ENST00000577625:exon8:c.G647A:p.R216H,ENSG00000108375:ENST00000581868:exon8:c.G647A:p.R216H,ENSG00000108375:ENST00000584437:exon8:c.G1028A:p.R343H,ENSG00000108375:ENST00000407977:exon9:c.G1028A:p.R343H,ENSG00000108375:ENST00000577716:exon9:c.G1028A:p.R343H Score=444;Name=lod=85 NA 17q22 NA NA NA NA rs34523089 0.08 0.08 0.074 0.0652955 0.163 0.001 0.1167 0.0091 0.0706 0.16 0.0017 0.12 0.01 0.1778 0.16 0.12 T 1.0 D 0.992 D 0.038 N 0.107 P 0.805 L 3.14 T -1.038 T 0.000 T 0.123 3.059 16.21 2.69 0.886 2.096 8.761 3.058842 3.058842 0.02 0.158545 0.036153 ID=COSM437002;OCCURENCE=1(breast) 0.043 NA 11.8339884 477 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 477 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 477 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=PAX5-C20,c-Myc,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 477 17 74300534 74300534 C T exonic QRICH2 NA nonsynonymous SNV QRICH2:NM_032134:exon3:c.G169A:p.E57K exonic ENSG00000129646 NA nonsynonymous SNV ENSG00000129646:ENST00000262765:exon3:c.G169A:p.E57K,ENSG00000129646:ENST00000524722:exon3:c.G169A:p.E57K Score=431;Name=lod=75 NA 17q25.1 NA NA NA NA rs72868914 0 0 NA NA NA NA NA NA NA NA NA NA NA 0.00005917 0.0001 0 D 0.539 P 0.17 B . . 0.996 N 0.805 L 2.08 T -1.041 T 0.034 T 0.273 2.386 13.94 3.05 0.647 3.502 6.897 2.386048 2.386048 0 0.000116 0 NA 0.007 NA 11.8331582 477 16 89776278 89776278 C T exonic VPS9D1 NA nonsynonymous SNV VPS9D1:NM_004913:exon11:c.G1295A:p.G432D exonic ENSG00000075399 NA nonsynonymous SNV ENSG00000075399:ENST00000561976:exon10:c.G1085A:p.G362D,ENSG00000075399:ENST00000389386:exon11:c.G1295A:p.G432D Score=463;Name=lod=102 NA 16q24.3 NA NA NA NA rs200733163 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009248 0.0002 0.41 T 0.501 P 0.086 B 0.031 N 0.979 N 1.79 L 1.55 T -1.052 T 0.058 T 0.326 1.568 11.2 4.31 1.231 2.304 8.178 1.567949 1.567949 0.47 0.000235 0 NA NA NA 11.8330059 477 11 60886423 60886423 C T exonic CD5 NA nonsynonymous SNV CD5:NM_014207:exon4:c.C437T:p.P146L exonic ENSG00000110448 NA nonsynonymous SNV ENSG00000110448:ENST00000347785:exon4:c.C437T:p.P146L,ENSG00000110448:ENST00000544014:exon4:c.C437T:p.P146L NA NA 11q12.2 Score=845;Name=V$RREB1_01 NA NA NA rs139537878 0.0005 0.0005 NA 0.000399361 0.002 NA NA NA NA 0.0013 NA NA NA 0.0004 0.0013 0.2 T 0.919 P 0.159 B 0.006 N 0.999 N 1.645 L 4.75 T -0.916 T 0.009 T 0.298 1.616 11.36 3.5 1.189 1.345 8.826 1.615734 1.615734 0.72 0.001047 0 NA NA NA 11.8298864 477 1 67109335 67109335 A G exonic SGIP1 NA nonsynonymous SNV SGIP1:NM_032291:exon7:c.A392G:p.K131R exonic ENSG00000118473 NA nonsynonymous SNV ENSG00000118473:ENST00000371035:exon5:c.A263G:p.K88R,ENSG00000118473:ENST00000371036:exon6:c.A317G:p.K106R,ENSG00000118473:ENST00000371037:exon7:c.A392G:p.K131R,ENSG00000118473:ENST00000371039:exon7:c.A320G:p.K107R,ENSG00000118473:ENST00000237247:exon8:c.A404G:p.K135R,ENSG00000118473:ENST00000424320:exon8:c.A392G:p.K131R Score=579;Name=lod=302 NA 1p31.3 NA NA NA NA rs7526812 0.26 0.26 0.248 0.282348 0.1402 0.2738 0.2867 0.4312 0.2331 0.14 0.31 0.2 0.44 0.2145 0.44 0.48 T 0.006 B 0.003 B 0.000 D 0.000 P 1.5 L 2.26 T -1.031 T 0.017 T 0.077 1.288 10.21 5.3 2.126 3.063 11.489 1.287897 1.287897 0.42 0.150814 0.365865 ID=COSM146539;OCCURENCE=1(stomach) 0.297 NA 11.8278194 477 9 138710347 138710347 C T exonic CAMSAP1 NA nonsynonymous SNV CAMSAP1:NM_015447:exon13:c.G4075A:p.G1359S exonic ENSG00000130559 NA nonsynonymous SNV ENSG00000130559:ENST00000312405:exon11:c.G3241A:p.G1081S,ENSG00000130559:ENST00000389532:exon13:c.G4075A:p.G1359S,ENSG00000130559:ENST00000409386:exon14:c.G4108A:p.G1370S NA NA 9q34.3 NA NA NA NA rs145211136 0.0018 0.0018 NA 0.000798722 0.004 NA NA NA NA 0.01 NA NA NA 0.0028 0.01 0 D 0.504 P 0.029 B 0.022 N 1.000 N 1.445 L 2.54 T -1.034 T 0.019 T 0.103 0.505 6.738 3.46 1.228 1.438 10.936 0.504922 NA 0.4 0.000233 0 NA NA NA 11.8263004 477 10 23482635 23482635 T C exonic PTF1A NA nonsynonymous SNV PTF1A:NM_178161:exon2:c.T787C:p.S263P exonic ENSG00000168267 NA nonsynonymous SNV ENSG00000168267:ENST00000376504:exon2:c.T787C:p.S263P Score=393;Name=lod=53 NA 10p12.2 NA NA NA NA rs7918487 0.62 0.62 0.568 0.624401 0.4742 0.869 0.6326 0.5983 0.5562 0.47 0.85 0.62 0.6 0.547 0.85 0.03 D 0.022 B 0.011 B 0.000 N 0.002 P 1.78 L -3.56 D -0.925 T 0.000 T 0.081 2.924 15.74 3.02 0.367 4.098 9.307 2.923725 2.923725 0 0.486163 0.558783 NA 0.587 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118082.2;CLNDSDB=.;CLNDSDBID=. 11.8259704 478 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 478 16 820944 820944 T A downstream MIR662 NA NA NA exonic ENSG00000162006 NA nonsynonymous SNV ENSG00000162006:ENST00000442466:exon12:c.A1388T:p.D463V,ENSG00000162006:ENST00000543963:exon12:c.A1538T:p.D513V,ENSG00000162006:ENST00000293892:exon13:c.A2441T:p.D814V Score=412;Name=lod=63 NA 16p13.3 NA NA NA NA rs12599363 0.25 0.25 0.243 0.253395 0.175 0.2659 0.2464 0.3714 0.1667 0.18 0.26 0.2 0.37 0.305 0.37 0.05 D 0.995 D 0.883 P 0.003 N 0.000 P . . 2.12 T -0.948 T 0.000 T 0.83 3.215 16.77 4.84 1.930 2.506 12.076 3.214605 3.214605 0 0.198864 0.296979 ID=COSM1609708;OCCURENCE=1(liver) 0.239 NA 11.821136 478 19 39971432 39971432 G C exonic TIMM50 NA nonsynonymous SNV TIMM50:NM_001001563:exon1:c.G248C:p.S83T exonic ENSG00000105197 NA nonsynonymous SNV ENSG00000105197:ENST00000314349:exon1:c.G248C:p.S83T NA NA 19q13.2 NA Name=YY1,NF-YB,c-Fos,AP-2alpha,CEBPB,ZBTB7A_(SC-34508),CCNT2,ERRA,TBP,Egr-1,AP-2gamma,GR,c-Myc,SP1,IRF1,Max,TCF4,ZBTB33,YY1_(C-20),Mxi1_(bHLH),NRSF,Sin3Ak-20,eGFP-JunD,E2F4,Pol2-4H8,SP2_(SC-643),HMGN3,TAF1,Znf143_(16618-1-AP),NFKB,HEY1,NF-YA,ELF1_(SC-631),USF1_(SC-8983),CHD2_(N-1250),HA-E2F1,Pol2,Pol2(phosphoS2),USF-1,E2F6,CTCF Name=148 NA rs2304220 0.13 0.13 0.129 0.141174 0.173 0.1121 0.1268 0.1626 0.1196 0.17 0.09 0.12 0.12 0.1753 0.17 . . 0.065 B 0.056 B 0.241 N 1.000 P . . . . -1.062 T 0.000 T 0.009 2.206 13.33 2.29 1.291 1.700 5.787 2.205918 2.205918 0.04 0.164957 0.154144 NA 0.109 NA 11.8200764 478 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 478 7 1028376 1028376 C T exonic CYP2W1 NA nonsynonymous SNV CYP2W1:NM_017781:exon9:c.C1391T:p.P464L exonic ENSG00000073067 NA nonsynonymous SNV ENSG00000073067:ENST00000415893:exon5:c.C826T:p.R276W,ENSG00000073067:ENST00000308919:exon9:c.C1391T:p.P464L NA NA 7p22.3 NA Name=E2F6_(H-50),CTCF Name=38 NA rs149976257 0.0032 0.0032 NA 0.00139776 0.003 NA 0.0014 0.0015 0.001 0.01 NA NA 0.01 0.0051 0.01 0.06 T 0.772 P 0.116 B 0.118 N 1.000 N 0.695 N -0.4 T -0.822 T 0.190 T 0.175 0.785 8.14 2.47 1.067 0.017 6.931 0.785111 NA 0.15 0.005716 0.002062 NA NA NA 11.8195174 478 10 25273744 25273744 T C exonic ENKUR NA nonsynonymous SNV ENKUR:NM_001270383:exon5:c.A499G:p.R167G,ENKUR:NM_145010:exon5:c.A685G:p.R229G exonic ENSG00000151023 NA nonsynonymous SNV ENSG00000151023:ENST00000331161:exon5:c.A685G:p.R229G,ENSG00000151023:ENST00000376363:exon5:c.A685G:p.R229G,ENSG00000151023:ENST00000496261:exon5:c.A685G:p.R229G Score=491;Name=lod=132 NA 10p12.1 NA NA NA NA rs33980615 0.0023 0.0023 NA 0.000998403 0.004 NA 0.0014 NA NA 0.01 NA 0.0028 NA 0.0045 0.01 0.19 T 0.772 P 0.428 B 0.024 N 0.853 N 1.28 L . . -0.999 T 0.076 T 0.177 2.578 14.58 5.25 2.102 1.425 11.740 2.578173 2.578173 0.01 0.006047 0.002043 NA NA NA 11.8187864 478 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 479 19 3179427 3179427 G A exonic S1PR4 NA nonsynonymous SNV S1PR4:NM_003775:exon1:c.G637A:p.A213T exonic ENSG00000125910 NA nonsynonymous SNV ENSG00000125910:ENST00000246115:exon1:c.G637A:p.A213T Score=313;Name=lod=25 NA 19p13.3 NA Name=ELF1_(SC-631),Pol2 Name=12 NA rs143964699 0.0032 0.0032 NA 0.00259585 0.008 NA 0.0043 NA 0.002 0.01 NA 0.01 NA 0.0064 0.01 0.69 T 0.676 P 0.202 B 0.075 N 0.817 N 0.46 N -0.63 T -0.979 T 0.087 T 0.089 -1.52 0.016 1.22 0.747 2.435 3.784 -1.519933 NA 1 0.00407 0.001589 NA NA NA 11.8148634 479 13 111082772 111082772 G T exonic COL4A2 NA nonsynonymous SNV COL4A2:NM_001846:exon9:c.G574T:p.V192F exonic ENSG00000134871 NA nonsynonymous SNV ENSG00000134871:ENST00000360467:exon9:c.G574T:p.V192F NA NA 13q34 NA NA NA NA rs62621885 0.01 0.01 NA 0.00898562 0.004 0.001 0.0346 0.0015 0.0143 0.004 NA 0.04 0.002 0.0095 0.04 0.04 D 0.846 P 0.351 B 0.095 N 1.000 N 1.28 L -3.25 D -0.383 T 0.310 T 0.434 0.868 8.517 3.1 1.170 0.542 6.417 0.867871 NA 0.58 0.007743 0.001109 NA NA NA 11.8120904 479 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 480 19 50412650 50412650 C T exonic NUP62 NA nonsynonymous SNV NUP62:NM_001193357:exon2:c.G415A:p.G139S,NUP62:NM_012346:exon2:c.G415A:p.G139S,NUP62:NM_153718:exon2:c.G415A:p.G139S,NUP62:NM_016553:exon3:c.G415A:p.G139S,NUP62:NM_153719:exon3:c.G415A:p.G139S exonic ENSG00000213024 NA nonsynonymous SNV ENSG00000213024:ENST00000413454:exon2:c.G415A:p.G139S,ENSG00000213024:ENST00000422090:exon2:c.G415A:p.G139S,ENSG00000213024:ENST00000596217:exon2:c.G415A:p.G139S,ENSG00000213024:ENST00000352066:exon3:c.G415A:p.G139S,ENSG00000213024:ENST00000597029:exon3:c.G415A:p.G139S,ENSG00000213024:ENST00000597723:exon3:c.G415A:p.G139S Score=313;Name=lod=25 NA 19q13.33 NA NA NA NA rs3745489 0.05 0.05 0.058 0.0473243 0.008 0.119 0.0231 0.0545 0.0215 0.01 0.11 0.01 0.08 0.0187 0.11 0.1 T 0.855 P 0.155 B 0.019 U 0.000 P 0.97 L 0.97 T -1.064 T 0.002 T 0.101 3.249 16.9 4.04 1.512 2.460 9.470 3.249286 3.249286 0.12 0.004535 0.044258 ID=COSM148689;OCCURENCE=1(stomach) 0.029 NA 11.8020984 480 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 480 3 137807259 137807259 G A exonic DZIP1L NA nonsynonymous SNV DZIP1L:NM_173543:exon6:c.C961T:p.R321W,DZIP1L:NM_001170538:exon7:c.C961T:p.R321W exonic ENSG00000158163 NA nonsynonymous SNV ENSG00000158163:ENST00000327532:exon6:c.C961T:p.R321W,ENSG00000158163:ENST00000469243:exon7:c.C961T:p.R321W Score=343;Name=lod=33 NA 3q22.3 NA NA NA NA rs2724693 0.56 0.56 0.495 0.536941 0.6869 0.6131 0.6859 0.1884 0.6697 0.68 0.63 0.65 0.24 0.6386 0.71 0.02 D 0.995 D 0.533 P 0.440 N 1.000 P 0 N 0.83 T -1.036 T 0.000 T 0.125 1.835 12.1 3.29 1.206 0.994 6.885 1.835476 1.835476 0.05 0.710465 0.29301 NA 0.529 NA 11.7973684 480 1 100598867 100598867 C T exonic TRMT13 NA nonsynonymous SNV TRMT13:NM_019083:exon1:c.C143T:p.A48V exonic ENSG00000122435 NA nonsynonymous SNV ENSG00000122435:ENST00000370139:exon1:c.C50T:p.A17V,ENSG00000122435:ENST00000370141:exon1:c.C143T:p.A48V,ENSG00000122435:ENST00000370143:exon1:c.C143T:p.A48V,ENSG00000122435:ENST00000482437:exon1:c.C143T:p.A48V Score=474;Name=lod=113 NA 1p21.2 NA Name=ETS1,TAF1,ELK4,Pol2-4H8,Sin3Ak-20,Mxi1_(bHLH),Max,Pol2,Pol2(phosphoS2) Name=49 NA rs687513 0.61 0.61 0.717 0.75639 0.8519 0.9286 0.8905 0.3752 0.9008 0.63 0.79 0.74 0.28 0.8403 0.85 0.31 T 0.327 B 0.055 B 0.001 D 0.602 P 1.32 L 0.85 T -1.073 T 0.046 T 0.159 3.209 16.75 4.99 2.588 1.090 8.404 3.209304 3.209304 0.03 0.845116 0.455969 NA NA NA 11.7960174 480 1 100598866 100598866 G A exonic TRMT13 NA nonsynonymous SNV TRMT13:NM_019083:exon1:c.G142A:p.A48T exonic ENSG00000122435 NA nonsynonymous SNV ENSG00000122435:ENST00000370139:exon1:c.G49A:p.A17T,ENSG00000122435:ENST00000370141:exon1:c.G142A:p.A48T,ENSG00000122435:ENST00000370143:exon1:c.G142A:p.A48T,ENSG00000122435:ENST00000482437:exon1:c.G142A:p.A48T Score=474;Name=lod=113 NA 1p21.2 NA Name=c-Myc,Max,Pol2,Pol2(phosphoS2),Mxi1_(bHLH),Sin3Ak-20,Pol2-4H8,ELK4,TAF1,ETS1 Name=49 NA rs472498 0.63 0.63 0.707 0.75639 0.8519 0.9286 0.8905 0.3752 0.9008 0.66 0.8 0.75 0.29 0.8402 0.85 0.53 T 0.196 B 0.04 B 0.001 D 0.806 P 0.975 L 0.87 T -1.080 T 0.037 T 0.185 3.297 17.08 4.07 1.308 2.196 10.376 3.297064 3.297064 0.05 0.845465 0.45665 NA NA NA 11.7957684 481 11 68846399 68846399 A T exonic TPCN2 NA nonsynonymous SNV TPCN2:NM_139075:exon16:c.A1450T:p.M484L exonic ENSG00000162341 NA nonsynonymous SNV ENSG00000162341:ENST00000294309:exon16:c.A1450T:p.M484L,ENSG00000162341:ENST00000542467:exon16:c.A1450T:p.M484L Score=458;Name=lod=97 Name=Blond vs. brown hair color 11q13.3 NA NA NA NA rs35264875 0.1 0.1 0.093 0.0996406 0.1988 0.0109 0.085 0.0212 0.2055 0.22 0.0017 0.1 0.04 0.1634 0.22 0.83 T 0.007 B 0.007 B 0.222 N 0.434 P 1.405 L -4.35 D -0.996 T 0.000 T 0.335 -0.641 1.17 -3.89 -0.538 0.673 10.134 -0.641124 NA 0.86 0.176525 0.035 NA 0.13 CLINSIG=pathogenic;CLNDBN=Skin/hair/eye_pigmentation\x2c_variation_in\x2c_10;CLNREVSTAT=single;CLNACC=RCV000000763.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2677088:612267 11.7946084 481 5 7870973 7870973 A G exonic MTRR NA nonsynonymous SNV MTRR:NM_002454:exon2:c.A66G:p.I22M,MTRR:NM_024010:exon2:c.A147G:p.I49M exonic ENSG00000124275 NA nonsynonymous SNV ENSG00000124275:ENST00000264668:exon2:c.A147G:p.I49M,ENSG00000124275:ENST00000341013:exon2:c.A66G:p.I22M,ENSG00000124275:ENST00000440940:exon2:c.A66G:p.I22M,ENSG00000124275:ENST00000502550:exon2:c.A66G:p.I22M,ENSG00000124275:ENST00000503550:exon2:c.A66G:p.I22M,ENSG00000124275:ENST00000506877:exon2:c.A66G:p.I22M,ENSG00000124275:ENST00000510279:exon2:c.A66G:p.I22M,ENSG00000124275:ENST00000512217:exon2:c.A66G:p.I22M,ENSG00000124275:ENST00000513439:exon2:c.A66G:p.I22M,ENSG00000124275:ENST00000514369:exon2:c.A66G:p.I22M NA NA 5p15.31 NA NA NA NA rs1801394 0.38 0.38 0.376 0.364217 0.5229 0.2629 0.281 0.2458 0.5245 0.54 0.26 0.32 0.29 0.473 0.55 0.02 D 1.0 D 0.99 D 0.000 D 0.996 P 2.18 M -1.04 T -0.905 T 0.000 T 0.642 3.115 16.41 0.334 -0.168 0.177 8.87 3.114507 3.114507 0.01 0.546047 0.269632 NA 0.333 CLINSIG=other|other|non-pathogenic;CLNDBN=Neural_tube_defects\x2c_folate-sensitive\x2c_susceptibility_to|Down_syndrome\x2c_susceptibility_to|not_provided;CLNREVSTAT=single|single|single;CLNACC=RCV000007444.1|RCV000007445.1|RCV000126873.1;CLNDSDB=.|.|.;CLNDSDBID=.|.|. 11.7913864 481 2 135893372 135893372 A G exonic RAB3GAP1 NA nonsynonymous SNV RAB3GAP1:NM_001172435:exon17:c.A1793G:p.N598S,RAB3GAP1:NM_012233:exon17:c.A1793G:p.N598S exonic ENSG00000115839 NA nonsynonymous SNV ENSG00000115839:ENST00000264158:exon17:c.A1793G:p.N598S,ENSG00000115839:ENST00000442034:exon17:c.A1793G:p.N598S,ENSG00000115839:ENST00000539493:exon19:c.A1661G:p.N554S Score=643;Name=lod=548 NA 2q21.3 NA NA NA NA rs10445686 0.22 0.22 0.206 0.214457 0.1909 0.3859 0.2003 0.0204 0.3344 0.19 0.42 0.2 0.03 0.2008 0.42 0.8 T 0.001 B 0.001 B 0.001 N 0.000 P 0.145 N 0.96 T -0.957 T 0.000 T 0.023 1.683 11.59 4.26 2.051 5.026 8.060 1.682973 1.682973 0.21 0.153953 0.031321 NA 0.138 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118091.2;CLNDSDB=.;CLNDSDBID=. 11.7876804 481 19 41383799 41383799 G A exonic CYP2A7 NA nonsynonymous SNV CYP2A7:NM_030589:exon5:c.C778T:p.R260C,CYP2A7:NM_000764:exon6:c.C931T:p.R311C exonic ENSG00000198077 NA nonsynonymous SNV ENSG00000198077:ENST00000291764:exon5:c.C778T:p.R260C,ENSG00000198077:ENST00000301146:exon6:c.C931T:p.R311C Score=387;Name=lod=50 NA 19q13.2 NA NA NA NA rs3869579 0.51 0.51 0.441 0.519169 0.5189 0.4405 0.6744 0.4251 0.6176 0.52 0.47 0.69 0.42 0.5226 0.69 0 D 1.0 D 1.0 D 0.000 U 0.068 P 1.89 L -0.38 T -0.887 T 0.000 T 0.288 1.549 11.13 2.18 1.215 0.766 11.450 1.548885 1.548885 0 0.506048 0.449387 NA 0.558 NA 11.7857854 482 14 20665840 20665840 G A exonic OR11G2 NA nonsynonymous SNV OR11G2:NM_001005503:exon1:c.G346A:p.V116I exonic ENSG00000196832 NA nonsynonymous SNV ENSG00000196832:ENST00000357366:exon1:c.G346A:p.V116I Score=541;Name=lod=210 NA 14q11.2 Score=833;Name=V$MRF2_01 Name=PU.1 Name=5 NA rs4981088 0.49 0.49 0.477 0.44988 0.5358 0.5437 0.4597 0.2844 0.4816 0.53 0.56 0.51 0.34 0.4968 0.56 0.18 T 0.185 B 0.164 B 0.001 U 0.999 P 1.225 L 4.98 T -0.959 T 0.000 T 0.093 1.92 12.38 4.67 2.414 0.267 16.503 1.919762 1.919762 0.14 0.518023 0.327735 NA 0.464 NA 11.7827104 482 4 84374480 84374480 C T exonic HELQ NA nonsynonymous SNV HELQ:NM_133636:exon2:c.G916A:p.V306I exonic ENSG00000163312 NA nonsynonymous SNV ENSG00000163312:ENST00000295488:exon2:c.G916A:p.V306I,ENSG00000163312:ENST00000508591:exon2:c.G916A:p.V306I,ENSG00000163312:ENST00000510985:exon2:c.G916A:p.V306I Score=511;Name=lod=159 Name=Upper aerodigestive tract cancers 4q21.23 Score=879;Name=V$AP1_01 NA Name=3 NA rs1494961 0.63 0.63 0.629 0.664537 0.4901 0.6776 0.6441 0.826 0.6268 0.49 0.65 0.61 0.82 0.5623 0.82 0.34 T 0.0 B 0.0 B 0.003 N 1.000 P -1.175 N 1.35 T -1.011 T 0.000 T 0.014 0.121 4.651 2.29 0.166 2.390 5.826 0.120977 NA 1 0.501279 0.776214 NA 0.565 NA 11.7796544 482 1 7880683 7880683 T G exonic PER3 NA nonsynonymous SNV PER3:NM_016831:exon15:c.T1916G:p.V639G exonic ENSG00000049246 NA nonsynonymous SNV ENSG00000049246:ENST00000361923:exon15:c.T1916G:p.V639G,ENSG00000049246:ENST00000377532:exon15:c.T1940G:p.V647G NA NA 1p36.23 NA NA NA NA rs10462020 0.12 0.12 0.085 0.120607 0.1968 0.0079 0.2133 0.0696 0.1616 0.18 0.01 0.17 0.1 0.1662 0.19 0 D 0.948 P 0.736 P 0.021 N 1.000 P 2.19 M 1.7 T -1.097 T 0.000 T 0.218 2.753 15.17 -6.91 -1.725 0.680 8.540 2.752957 2.752957 0.02 0.191047 0.096232 NA 0.065 NA 11.7792864 482 11 67079177 67079177 G A exonic SSH3 NA nonsynonymous SNV SSH3:NM_017857:exon14:c.G1799A:p.R600H exonic ENSG00000172830 NA nonsynonymous SNV ENSG00000172830:ENST00000308298:exon10:c.G1004A:p.R335H,ENSG00000172830:ENST00000308127:exon14:c.G1799A:p.R600H Score=489;Name=lod=130 NA 11q13.2 NA Name=CTCF NA NA rs1573536 0.06 0.06 0.038 0.0698882 0.004 0.0298 0.2651 0.0998 NA 0.004 0.02 0.2 0.1 0.0468 0.2 0.04 D 0.913 P 0.337 B 0.025 N 0.000 P 0.805 L 3.32 T -1.086 T 0.000 T 0.059 1.482 10.9 2.53 0.619 0.450 7.268 1.481567 1.481567 0.05 0.004307 0.0775 NA 0.065 NA 11.7782264 483 18 74580780 74580780 C T exonic ZNF236 NA nonsynonymous SNV ZNF236:NM_007345:exon4:c.C497T:p.S166L exonic ENSG00000130856 NA nonsynonymous SNV ENSG00000130856:ENST00000579322:exon3:c.C497T:p.S166L,ENSG00000130856:ENST00000253159:exon4:c.C497T:p.S166L,ENSG00000130856:ENST00000320610:exon4:c.C503T:p.S168L,ENSG00000130856:ENST00000543926:exon4:c.C497T:p.S166L NA NA 18q23 NA NA NA NA rs2276211 0.02 0.02 0.022 0.0167732 0.0258 0.0228 0.0245 0.0008 0.0174 0.02 0.03 0.02 0.002 0.0187 0.03 0.01 D 0.905 P 0.36 B 0.039 N 1.000 N 1.77 L 0.31 T -0.955 T 0.074 T 0.34 0.621 7.343 4.4 1.211 4.576 13.417 0.62139 NA 0.07 0.018256 0.003316 NA 0.014 NA 11.7705774 483 3 151090424 151090424 G A exonic MED12L NA nonsynonymous SNV MED12L:NM_053002:exon25:c.G3629A:p.R1210Q exonic ENSG00000144893 NA nonsynonymous SNV ENSG00000144893:ENST00000273432:exon23:c.G3209A:p.R1070Q,ENSG00000144893:ENST00000474524:exon25:c.G3629A:p.R1210Q NA NA 3q25.1 NA NA Name=15 NA rs3732765 0.23 0.23 0.185 0.203275 0.3807 0.1389 0.3055 0.0287 0.2505 0.38 0.13 0.33 0.03 0.306 0.38 0.2 T 0.828 P 0.403 B 0.000 D 0.000 P 0.55 N 0.44 T -0.973 T 0.000 T 0.106 1.426 10.71 4.95 2.788 3.813 11.070 1.425534 1.425534 NA 0.376163 0.081934 ID=COSM149499;OCCURENCE=1(stomach) 0.188 NA 11.7704704 483 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 483 19 4292841 4292841 C G exonic TMIGD2 NA nonsynonymous SNV TMIGD2:NM_001169126:exon5:c.G592C:p.A198P,TMIGD2:NM_144615:exon5:c.G604C:p.A202P exonic ENSG00000167664 NA nonsynonymous SNV ENSG00000167664:ENST00000600349:exon2:c.G88C:p.A30P,ENSG00000167664:ENST00000600114:exon4:c.G244C:p.A82P,ENSG00000167664:ENST00000301272:exon5:c.G604C:p.A202P,ENSG00000167664:ENST00000595645:exon5:c.G592C:p.A198P NA NA 19p13.3 NA NA NA NA rs28477168 0.19 0.19 0.135 0.186901 0.2008 0.1944 0.2579 0.1135 0.2137 0.21 0.18 0.27 0.13 0.1989 0.27 0 D 0.899 P 0.469 P . . 1.000 P 0.895 L 1.19 T -1.083 T 0.000 T 0.064 1.647 11.47 -5.28 -1.292 -2.034 5.114 1.647275 1.647275 0 0.167209 0.120517 NA 0.239 NA 11.7664244 483 17 4856580 4856580 T C exonic ENO3 NA nonsynonymous SNV ENO3:NM_001976:exon5:c.T254C:p.V85A,ENO3:NM_053013:exon5:c.T254C:p.V85A exonic ENSG00000108515 NA nonsynonymous SNV ENSG00000108515:ENST00000518175:exon4:c.T254C:p.V85A,ENSG00000108515:ENST00000323997:exon5:c.T254C:p.V85A,ENSG00000108515:ENST00000519602:exon5:c.T254C:p.V85A,ENSG00000108515:ENST00000520221:exon5:c.T254C:p.V85A,ENSG00000108515:ENST00000521811:exon5:c.T254C:p.V85A,ENSG00000108515:ENST00000522249:exon5:c.T254C:p.V85A,ENSG00000108515:ENST00000522301:exon5:c.T254C:p.V85A,ENSG00000108515:ENST00000522798:exon5:c.T254C:p.V85A Score=585;Name=lod=318 NA 17p13.2 Score=871;Name=V$FAC1_01 NA NA NA rs238239 0.35 0.35 0.318 0.303914 0.5437 0.1548 0.4481 0.1445 0.3241 0.55 0.14 0.49 0.17 0.4606 0.56 0.04 D 0.0 B 0.019 B . . 0.000 P . . 1.57 T -0.951 T 0.000 T 0.231 3.121 16.43 4.42 0.998 5.019 11.268 3.121456 3.121456 0.13 0.563372 0.229006 NA 0.413 NA 11.7656614 484 7 115624478 115624478 C G exonic TFEC NA nonsynonymous SNV TFEC:NM_001018058:exon2:c.G18C:p.Q6H,TFEC:NM_012252:exon2:c.G18C:p.Q6H exonic ENSG00000105967 NA nonsynonymous SNV ENSG00000105967:ENST00000265440:exon2:c.G18C:p.Q6H,ENSG00000105967:ENST00000320239:exon2:c.G18C:p.Q6H,ENSG00000105967:ENST00000393485:exon2:c.G18C:p.Q6H,ENSG00000105967:ENST00000484212:exon4:c.G288C:p.Q96H NA NA 7q31.2 NA NA NA NA rs35695387 0.01 0.01 0.01 0.0133786 0.0169 0.001 0.0101 0.0015 0.0409 0.02 NA 0.01 NA 0.021 0.031 0 D 0.993 D 0.79 P 0.000 D 0.899 N 0.345 N 2.46 T -1.097 T 0.016 T 0.093 1.748 11.8 2.05 0.191 0.385 5.281 1.747878 1.747878 0.01 0.030581 0.008171 ID=COSM1447429;OCCURENCE=1(large_intestine) 0.014 NA 11.7648524 484 18 28611061 28611061 A T exonic DSC3 NA nonsynonymous SNV DSC3:NM_001941:exon3:c.T232A:p.S78T,DSC3:NM_024423:exon3:c.T232A:p.S78T exonic ENSG00000134762 NA nonsynonymous SNV ENSG00000134762:ENST00000360428:exon3:c.T232A:p.S78T,ENSG00000134762:ENST00000434452:exon3:c.T232A:p.S78T NA NA 18q12.1 Score=775;Name=V$ER_Q6 Name=TAL1_(SC-12984) NA NA rs276937 0.43 0.43 0.419 0.434904 0.3549 0.6835 0.3401 0.3132 0.4928 0.34 0.69 0.35 0.32 0.3937 0.69 0.33 T 0.627 P 0.344 B . . 1.000 P 1.93 M 1.13 T -0.974 T 0.000 T 0.083 0.913 8.716 2.83 0.442 3.054 7.204 0.913305 NA 0.08 0.321395 0.332501 NA 0.391 NA 11.7633384 484 1 248551636 248551636 T G exonic OR2T6 NA nonsynonymous SNV OR2T6:NM_001005471:exon1:c.T727G:p.S243A exonic ENSG00000198104 NA nonsynonymous SNV ENSG00000198104:ENST00000355728:exon1:c.T727G:p.S243A NA NA 1q44 NA NA NA NA rs954475 0.33 0.33 0.333 0.369609 0.1769 0.4365 0.3127 0.4962 0.3681 0.19 0.42 0.26 0.49 0.2429 0.49 0 D 1.0 D 1.0 D 0.002 N 1.000 P 2.355 M 1.11 T -0.926 T 0.000 T 0.105 1.542 11.11 2.85 0.673 0.605 6.292 1.542475 1.542475 0 0.150814 0.435996 NA 0.232 NA 11.7627194 484 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 484 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 484 22 22893394 22893394 A T exonic PRAME NA nonsynonymous SNV PRAME:NM_206953:exon3:c.T139A:p.L47M,PRAME:NM_006115:exon4:c.T139A:p.L47M,PRAME:NM_206954:exon4:c.T139A:p.L47M,PRAME:NM_206955:exon4:c.T139A:p.L47M,PRAME:NM_206956:exon4:c.T139A:p.L47M exonic ENSG00000185686 NA nonsynonymous SNV ENSG00000185686:ENST00000424204:exon2:c.T91A:p.L31M,ENSG00000185686:ENST00000539862:exon2:c.T91A:p.L31M,ENSG00000185686:ENST00000403441:exon3:c.T139A:p.L47M,ENSG00000185686:ENST00000543184:exon3:c.T139A:p.L47M,ENSG00000185686:ENST00000398741:exon4:c.T139A:p.L47M,ENSG00000185686:ENST00000398743:exon4:c.T139A:p.L47M,ENSG00000185686:ENST00000402697:exon4:c.T139A:p.L47M,ENSG00000185686:ENST00000405655:exon4:c.T139A:p.L47M,ENSG00000185686:ENST00000406503:exon4:c.T139A:p.L47M,ENSG00000185686:ENST00000420709:exon4:c.T139A:p.L47M,ENSG00000185686:ENST00000439106:exon4:c.T139A:p.L47M NA NA 22q11.22 NA NA NA NA rs41310248 0.01 0.01 0.009 0.00638978 0.0209 NA 0.0072 0.0023 0.0031 0.03 NA 0.01 0.01 0.0209 0.034 0.06 T 0.967 D 0.77 P 0.234 N 1.000 N 1.65 L 3.56 T -0.989 T 0.033 T 0.282 2.244 13.46 -5.92 -1.139 -2.016 5.192 2.244046 2.244046 0.05 0.034419 0.006582 NA NA NA 11.7571144 484 7 5391702 5391702 C G exonic TNRC18 NA nonsynonymous SNV TNRC18:NM_001080495:exon17:c.G5218C:p.E1740Q exonic ENSG00000182095 NA nonsynonymous SNV ENSG00000182095:ENST00000440081:exon4:c.G688C:p.E230Q,ENSG00000182095:ENST00000399537:exon17:c.G5218C:p.E1740Q,ENSG00000182095:ENST00000430969:exon17:c.G5218C:p.E1740Q Score=439;Name=lod=81 NA 7p22.1 NA NA Name=5 NA rs3801048 0.18 0.18 0.179 0.189696 0.2147 0.0625 0.1844 0.2526 0.2137 0.22 0.05 0.17 0.26 0.1936 0.26 0.36 T 0.042 B 0.016 B 0.917 N 0.000 P 1.59 L 2.64 T -1.048 T 0.000 T 0.156 2.578 14.58 4.0 0.997 2.845 14.798 2.578239 2.578239 0.02 0.16904 0.248406 NA 0.304 NA 11.7559934 484 21 45503121 45503121 G A exonic TRAPPC10 NA nonsynonymous SNV TRAPPC10:NM_003274:exon14:c.G2176A:p.V726M exonic ENSG00000160218 NA nonsynonymous SNV ENSG00000160218:ENST00000291574:exon14:c.G2176A:p.V726M Score=371;Name=lod=43 NA 21q22.3 Score=1000;Name=V$USF_C Name=HA-E2F1,c-Myc Name=13 NA rs2071152 0.32 0.32 0.354 0.394169 0.1541 0.2976 0.3012 0.6664 0.4387 0.16 0.3 0.26 0.64 0.2611 0.64 0.17 T 0.024 B 0.009 B 0.044 N 0.000 P 0.145 N 1.91 T -0.980 T 0.000 T 0.024 0.182 4.979 -1.09 -0.108 1.941 6.640 0.181776 NA 0.14 0.162209 0.611893 NA 0.341 NA 11.7559244 485 7 23811795 23811795 T G exonic STK31 NA nonsynonymous SNV STK31:NM_001260504:exon15:c.T1794G:p.N598K,STK31:NM_001260505:exon15:c.T1863G:p.N621K,STK31:NM_031414:exon15:c.T1863G:p.N621K,STK31:NM_032944:exon15:c.T1794G:p.N598K exonic ENSG00000196335 NA nonsynonymous SNV ENSG00000196335:ENST00000354639:exon15:c.T1794G:p.N598K,ENSG00000196335:ENST00000355870:exon15:c.T1863G:p.N621K,ENSG00000196335:ENST00000428484:exon15:c.T1794G:p.N598K,ENSG00000196335:ENST00000433467:exon15:c.T1863G:p.N621K Score=606;Name=lod=386 NA 7p15.3 NA NA NA NA rs10263079 0.13 0.13 0.108 0.0966454 0.2117 0.0575 0.1297 0.0454 0.0644 0.22 0.05 0.17 0.06 0.155 0.22 0.08 T 0.956 P 0.468 P 0.000 D 0.140 P 1.995 M 1.29 T -1.105 T 0.000 T 0.179 3.408 17.51 1.51 0.024 1.330 8.699 3.408289 3.408289 0.06 0.21252 0.069287 NA 0.123 NA 11.7541134 485 11 5221645 5221645 C A exonic OR51V1 NA nonsynonymous SNV OR51V1:NM_001004760:exon1:c.G286T:p.G96W exonic ENSG00000176742 NA nonsynonymous SNV ENSG00000176742:ENST00000321255:exon1:c.G286T:p.G96W Score=278;Name=lod=18 NA 11p15.4 NA NA NA NA rs11512276 0.47 0.47 0.478 0.320887 0.4702 0.1677 0.4352 0.267 0.317 0.67 0.26 0.54 0.35 0.4047 0.71 0 D 1.0 D 0.999 D 0.059 N 0.998 P 2.805 M 5.33 T -1.055 T 0.000 T 0.305 2.206 13.33 3.64 0.897 0.474 5.075 2.205583 2.205583 0.09 0.705328 0.389596 NA 0.348 NA 11.7531054 485 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 485 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 485 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 486 5 140183058 140183058 G A exonic PCDHA3 NA nonsynonymous SNV PCDHA3:NM_018906:exon1:c.G2276A:p.C759Y,PCDHA3:NM_031497:exon1:c.G2276A:p.C759Y exonic ENSG00000255408 NA nonsynonymous SNV ENSG00000255408:ENST00000522353:exon1:c.G2276A:p.C759Y,ENSG00000255408:ENST00000532566:exon1:c.G2276A:p.C759Y Score=259;Name=lod=15 NA 5q31.3 Score=787;Name=V$PAX5_02 Name=Oct-2,PU.1,POU2F2 NA NA rs2240694 0.53 0.53 0.52 0.525359 0.5378 0.5317 0.5893 0.4788 0.5235 0.54 0.54 0.54 0.51 0.5249 0.54 0.01 D 0.035 B 0.042 B 0.087 U 0.000 P 3.08 M 2.49 T -0.978 T 0.000 T 0.155 1.836 12.1 3.26 0.828 . 13.870 1.836155 1.836155 0.01 0.527907 0.495915 NA 0.457 NA 11.7427264 486 11 62458275 62458275 T C exonic BSCL2 NA nonsynonymous SNV BSCL2:NM_001130702:exon8:c.A803G:p.K268R exonic ENSG00000168000 NA nonsynonymous SNV ENSG00000168000:ENST00000278893:exon8:c.A803G:p.K268R NA NA 11q12.3 NA NA NA NA rs6856 0.15 0.15 0.139 0.134984 0.1928 0.0853 0.1556 0.084 0.181 0.2 0.09 0.19 0.11 0.1784 0.22 0.05 D 0.0 B 0.0 B . . 1.000 P . . -2.65 D -1.051 T 0.001 T . 3.564 18.17 -3.94 -0.967 -0.325 6.268 3.563743 3.563743 0 0.219935 0.111717 NA 0.217 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116505.2;CLNDSDB=.;CLNDSDBID=. 11.7421984 486 9 34379692 34379692 C T exonic C9orf24 NA nonsynonymous SNV C9orf24:NM_147169:exon3:c.G182A:p.C61Y,C9orf24:NM_001252195:exon4:c.G341A:p.C114Y exonic ENSG00000164972 NA nonsynonymous SNV ENSG00000164972:ENST00000379124:exon3:c.G341A:p.C114Y,ENSG00000164972:ENST00000379126:exon3:c.G182A:p.C61Y,ENSG00000164972:ENST00000379127:exon4:c.G341A:p.C114Y Score=436;Name=lod=79 NA 9p13.3 NA Name=Pol2,CTCF,KAP1 NA NA rs3737242 0.14 0.14 0.138 0.141573 0.2087 0.0942 0.1657 0.0408 0.2403 0.21 0.11 0.17 0.03 0.1805 0.21 0.39 T 0.008 B 0.018 B . . 0.000 P . . 0.67 T -1.086 T 0.000 T . 3.942 20.2 3.82 2.627 2.351 10.413 3.94221 3.94221 0.41 0.202209 0.07172 NA 0.188 NA 11.7419244 486 9 34257095 34257095 G A exonic KIF24 NA nonsynonymous SNV KIF24:NM_194313:exon11:c.C2510T:p.S837F exonic ENSG00000186638 NA nonsynonymous SNV ENSG00000186638:ENST00000379174:exon7:c.C2108T:p.S703F,ENSG00000186638:ENST00000345050:exon8:c.C2108T:p.S703F,ENSG00000186638:ENST00000402558:exon10:c.C2510T:p.S837F,ENSG00000186638:ENST00000379166:exon11:c.C2510T:p.S837F NA NA 9p13.3 NA NA NA NA rs41274041 0.13 0.13 0.109 0.134984 0.2107 0.0516 0.17 0.0416 0.2444 0.22 0.06 0.17 0.03 0.1784 0.22 0.07 T 0.999 D 0.956 D 0.001 N 1.000 P 1.645 L 1.55 T -1.112 T 0.000 T 0.413 2.36 13.85 4.66 2.624 2.608 11.334 2.359768 2.359768 0.24 0.202326 0.07172 NA 0.167 NA 11.7419074 486 1 6614535 6614535 G A exonic NOL9 NA nonsynonymous SNV NOL9:NM_024654:exon1:c.C28T:p.R10W exonic ENSG00000162408 NA nonsynonymous SNV ENSG00000162408:ENST00000377705:exon1:c.C28T:p.R10W NA NA 1p36.31 NA Name=SP1,IRF1,CHD2_(N-1250),c-Myc,ZBTB33,YY1_(C-20),Pol2(phosphoS2),TCF4,Max,Pol2,CTCF,Mxi1_(bHLH),PAX5-C20,SIX5,E2F4,TAF7_(SQ-8),Sin3Ak-20,TCF12,GABP,Pol2-4H8,AP-2alpha,YY1,BRCA1_(C-1863),NFKB,AP-2gamma,CCNT2,TBP,TAF1,Pol2(b),PAX5-N19,HMGN3,BCLAF1_(M33-P5B11),ETS1,GTF2F1_(RAP-74),STAT1,ELF1_(SC-631),KAP1,ZNF263,HEY1 Name=148 NA rs4908923 0.75 0.75 0.75 0.722244 0.8608 0.7927 0.8473 0.4266 0.818 0.87 0.81 0.84 0.44 0.8446 0.89 0 D 1.0 D 0.925 D 0.092 N 1.000 P 0.805 L 1.96 T -1.090 T 0.000 T 0.238 3.545 18.08 2.15 1.112 0.459 6.737 3.544878 3.544878 0 0.886691 0.569606 NA 0.688 NA 11.7412424 486 15 65916527 65916527 A T exonic SLC24A1 NA nonsynonymous SNV SLC24A1:NM_004727:exon2:c.A109T:p.T37S exonic ENSG00000074621 NA nonsynonymous SNV ENSG00000074621:ENST00000399033:exon1:c.A109T:p.T37S,ENSG00000074621:ENST00000546330:exon1:c.A109T:p.T37S,ENSG00000074621:ENST00000261892:exon2:c.A109T:p.T37S,ENSG00000074621:ENST00000339868:exon2:c.A109T:p.T37S,ENSG00000074621:ENST00000544319:exon2:c.A109T:p.T37S,ENSG00000074621:ENST00000537259:exon4:c.A109T:p.T37S NA NA 15q22.31 Score=936;Name=V$GATA1_04 NA NA NA rs3743171 0.3 0.3 0.281 0.314497 0.17 0.7232 0.2017 0.1278 0.3742 0.17 0.69 0.22 0.1 0.2522 0.69 0.04 D 0.999 D 0.945 D 0.343 N 1.000 P 1.545 L -0.01 T -0.918 T 0.000 T 0.176 1.603 11.32 2.74 0.395 0.078 3.897 1.603239 1.603239 0 0.170339 0.136625 NA 0.297 NA 11.7407944 486 12 122295335 122295335 T C exonic HPD NA nonsynonymous SNV HPD:NM_002150:exon4:c.A97G:p.T33A exonic ENSG00000158104 NA nonsynonymous SNV ENSG00000158104:ENST00000289004:exon4:c.A97G:p.T33A Score=272;Name=lod=17 NA 12q24.31 NA Name=TCF4,FOXA2_(SC-6554),SP1,RXRA,CEBPB,ZBTB7A_(SC-34508),HNF4A_(H-171),FOSL2,p300,GABP,HNF4A,HNF4G_(SC-6558) Name=8 NA rs1154510 0.87 0.87 0.881 0.876398 0.8718 0.871 0.7522 0.9652 0.8548 0.88 0.83 0.8 0.95 0.8502 0.96 1 T . . . . 0.000 N 0.000 P . . -0.38 T -0.945 T 0.000 T 0.346 0.927 8.777 5.48 1.471 3.897 12.867 0.927324 NA 1 0.872674 0.955969 NA 0.862 CLINSIG=pathogenic;CLNDBN=4-Alpha-hydroxyphenylpyruvate_hydroxylase_deficiency;CLNREVSTAT=single;CLNACC=RCV000001643.1;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C2931042:140350:ORPHA2118 11.7386594 486 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 486 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 487 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 488 19 11617073 11617073 C T exonic ECSIT NA nonsynonymous SNV ECSIT:NM_001142465:exon6:c.G580A:p.E194K,ECSIT:NM_016581:exon8:c.G1222A:p.E408K exonic ENSG00000130159 NA nonsynonymous SNV ENSG00000130159:ENST00000417981:exon6:c.G580A:p.E194K,ENSG00000130159:ENST00000270517:exon8:c.G1222A:p.E408K NA NA 19p13.2 NA Name=Pol2,E2F6 Name=10 NA rs35513404 0.02 0.02 0.011 0.0131789 0.0477 NA 0.0159 0.0023 0.0041 0.05 NA 0.01 0.002 0.0261 0.05 0.66 T 0.903 P 0.406 B 0.494 N 0.984 N 1.87 L 1.48 T -1.095 T 0.015 T 0.24 2.782 15.26 4.53 2.650 0.234 12.599 2.781666 2.781666 0.11 0.034805 0.007058 NA 0.022 NA 11.7247284 488 5 140182101 140182101 G T exonic PCDHA3 NA nonsynonymous SNV PCDHA3:NM_018906:exon1:c.G1319T:p.S440I,PCDHA3:NM_031497:exon1:c.G1319T:p.S440I exonic ENSG00000255408 NA nonsynonymous SNV ENSG00000255408:ENST00000522353:exon1:c.G1319T:p.S440I,ENSG00000255408:ENST00000532566:exon1:c.G1319T:p.S440I Score=278;Name=lod=18 NA 5q31.3 Score=765;Name=V$YY1_02 Name=NRSF NA NA rs7701755 0.58 0.58 0.563 0.591454 0.5388 0.5327 0.6052 0.7194 0.5235 0.54 0.54 0.56 0.7 0.545 0.7 0.12 T 0.402 B 0.438 B 0.028 U 0.000 P 0.575 N 0.68 T -0.999 T 0.000 T 0.101 1.88 12.25 3.86 1.106 -1.041 10.185 1.880266 1.880266 0.01 0.527797 0.70404 ID=COSM1130916,COSM1130915;OCCURENCE=1(prostate) 0.587 NA 11.7217364 488 19 38056574 38056574 T A exonic ZNF571 NA nonsynonymous SNV ZNF571:NM_016536:exon4:c.A756T:p.E252D exonic ENSG00000180479 NA nonsynonymous SNV ENSG00000180479:ENST00000328550:exon4:c.A756T:p.E252D,ENSG00000180479:ENST00000451802:exon4:c.A756T:p.E252D,ENSG00000180479:ENST00000593133:exon4:c.A756T:p.E252D,ENSG00000180479:ENST00000358744:exon5:c.A756T:p.E252D Score=300;Name=lod=22 NA 19q13.12 NA Name=SETDB1,KAP1,ZNF274 NA NA rs28512414 0.36 0.36 0.353 0.368211 0.168 0.6528 0.2637 0.3555 0.3722 0.17 0.65 0.25 0.41 0.2613 0.65 0.07 T 0.003 B 0.031 B . . 0.000 P 1.685 L 1.97 T -0.977 T 0.000 T 0.052 2.214 13.36 3.87 1.604 -1.471 7.564 2.213757 2.213757 0.01 0.185478 0.315252 NA 0.297 NA 11.7185554 488 20 25059442 25059442 C T exonic VSX1 NA nonsynonymous SNV VSX1:NM_199425:exon3:c.G650A:p.R217H exonic ENSG00000100987 NA nonsynonymous SNV ENSG00000100987:ENST00000376707:exon3:c.G650A:p.R217H NA NA 20p11.21 NA NA Name=2 NA rs6138482 0.26 0.26 0.24 0.215655 0.2137 0.5268 0.2147 0.0098 0.1759 0.21 0.56 0.24 0.03 0.2063 0.56 0 D 0.008 B 0.001 B . . 1.000 P . . -3.21 D -0.960 T 0.000 T 0.073 1.577 11.23 -4.87 -1.182 -0.065 0.464 1.577349 1.577349 0.36 0.197674 0.04335 NA 0.152 NA 11.7156594 488 14 105411781 105411781 G A exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.C10007T:p.P3336L exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.C10007T:p.P3336L NA NA 14q32.33 Score=764;Name=V$ROAZ_01 NA NA NA rs10438247 0.51 0.51 0.522 0.538538 0.5318 0.4137 0.5101 0.5855 0.6309 0.53 0.39 0.54 0.61 0.5416 0.65 0.07 T 0.999 D 0.909 D . . 0.000 P 3.585 H 4.05 T -1.016 T 0.000 T 0.197 3.329 17.2 2.91 0.789 2.160 12.566 3.329313 3.329313 0.03 0.544394 0.653072 ID=COSM432734;OCCURENCE=1(breast) 0.471 NA 11.7155394 489 15 89804043 89804043 C T exonic FANCI NA nonsynonymous SNV FANCI:NM_001113378:exon4:c.C257T:p.A86V,FANCI:NM_018193:exon4:c.C257T:p.A86V exonic ENSG00000140525 NA nonsynonymous SNV ENSG00000140525:ENST00000300027:exon4:c.C257T:p.A86V,ENSG00000140525:ENST00000310775:exon4:c.C257T:p.A86V,ENSG00000140525:ENST00000447611:exon4:c.C257T:p.A86V,ENSG00000140525:ENST00000563250:exon4:c.C257T:p.A86V,ENSG00000140525:ENST00000565255:exon4:c.C257T:p.A86V,ENSG00000140525:ENST00000567891:exon4:c.C257T:p.A86V,ENSG00000140525:ENST00000564920:exon5:c.C257T:p.A86V,ENSG00000140525:ENST00000567996:exon6:c.C257T:p.A86V Score=582;Name=lod=309 NA 15q26.1 NA NA NA NA rs17803620 0.29 0.29 0.272 0.259784 0.3787 0.3036 0.3458 0.0393 0.3292 0.4 0.3 0.33 0.06 0.3569 0.4 0.77 T 0.746 P 0.062 B 0.000 D 0.000 P 1.175 L 0.95 T -0.962 T 0.000 T 0.405 2.866 15.55 4.45 2.534 1.970 9.614 2.866199 2.866199 0.67 0.384275 0.094773 NA 0.232 NA 11.7134584 489 12 55863224 55863224 C G exonic OR6C70 NA nonsynonymous SNV OR6C70:NM_001005499:exon1:c.G699C:p.K233N exonic ENSG00000184954 NA nonsynonymous SNV ENSG00000184954:ENST00000327335:exon1:c.G699C:p.K233N NA NA 12q13.2 NA NA NA NA rs60683621 0.27 0.27 0.263 0.26278 0.1918 0.4911 0.1945 0.2133 0.2157 0.2 0.48 0.2 0.21 0.223 0.48 0 D 0.045 B 0.071 B 0.010 N 1.000 P 2.515 M 8.68 T -0.833 T 0.000 T 0.042 -0.365 2.279 -5.23 -1.111 -1.281 6.995 -0.365261 NA 0.01 0.208721 0.216069 NA 0.29 NA 11.7098124 489 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=E2F6_(H-50),TBP 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 490 7 73249299 73249299 G C exonic WBSCR27 NA nonsynonymous SNV WBSCR27:NM_152559:exon6:c.C512G:p.S171W exonic ENSG00000165171 NA nonsynonymous SNV ENSG00000165171:ENST00000297873:exon6:c.C512G:p.S171W Score=459;Name=lod=98 NA 7q11.23 NA NA Name=3 NA rs13232463 0.61 0.61 0.596 0.58107 0.7256 0.5813 0.6124 0.4629 0.5695 0.73 0.57 0.6 0.46 0.664 0.74 0.18 T 0.993 D 0.804 P 0.709 N 0.008 P 1.04 L 1.36 T -1.041 T 0.000 T 0.138 2.605 14.67 5.09 2.413 1.649 14.159 2.604998 2.604998 0.19 0.742209 0.519519 NA 0.413 NA 11.7015244 490 15 89836228 89836228 G C exonic FANCI NA nonsynonymous SNV FANCI:NM_001113378:exon22:c.G2225C:p.C742S,FANCI:NM_018193:exon22:c.G2225C:p.C742S exonic ENSG00000140525 NA nonsynonymous SNV ENSG00000140525:ENST00000300027:exon22:c.G2225C:p.C742S,ENSG00000140525:ENST00000310775:exon22:c.G2225C:p.C742S,ENSG00000140525:ENST00000447611:exon22:c.G2225C:p.C742S Score=473;Name=lod=112 NA 15q26.1 Score=892;Name=V$FOXJ2_02 NA NA NA rs2283432 0.29 0.29 0.266 0.264976 0.3837 0.3135 0.3473 0.0393 0.3395 0.4 0.31 0.33 0.06 0.3623 0.4 0.4 T 0.661 P 0.137 B 0.000 N 0.000 P 1.39 L 1.63 T -0.901 T 0.000 T 0.303 1.945 12.46 4.89 2.793 4.932 3.907 1.945389 1.945389 0.63 0.389509 0.095271 ID=COSM1179764,COSM1179763;OCCURENCE=1(prostate) 0.232 NA 11.6978244 491 X 132438872 132438872 C A exonic GPC4 NA nonsynonymous SNV GPC4:NM_001448:exon7:c.G1173T:p.E391D exonic ENSG00000076716 NA nonsynonymous SNV ENSG00000076716:ENST00000370828:exon7:c.G1173T:p.E391D,ENSG00000076716:ENST00000535467:exon7:c.G963T:p.E321D Score=553;Name=lod=235 NA Xq26.2 Score=839;Name=V$ISRE_01 NA NA NA rs1129980 0.39 0.39 0.41653 NA NA NA NA NA NA 0.28 0.42 0.27 0.64 0.3483 0.64 0.37 T 0.104 B 0.12 B 0.000 D 0.007 P 1.355 L 0.66 T -0.927 T 0.000 T 0.178 1.808 12.01 3.36 0.948 0.974 7.203 1.808215 1.808215 0.31 0.295184 0.596871 NA 0.319 NA 11.6898494 491 17 48432324 48432324 G C exonic XYLT2 NA nonsynonymous SNV XYLT2:NM_022167:exon4:c.G914C:p.R305T exonic ENSG00000015532 NA nonsynonymous SNV ENSG00000015532:ENST00000017003:exon4:c.G914C:p.R305T,ENSG00000015532:ENST00000376550:exon4:c.G914C:p.R305T,ENSG00000015532:ENST00000507602:exon4:c.G914C:p.R305T Score=682;Name=lod=788 NA 17q21.33 NA NA NA NA rs12451299 0.14 0.14 0.112 0.13139 0.2127 0.0784 0.2795 0.0408 0.1196 0.21 0.08 0.25 0.04 0.2081 0.25 0.84 T 0.001 B 0.006 B 0.000 D 0.972 P -1.01 N 2.78 T -0.902 T 0.000 T 0.179 -0.258 2.759 3.57 2.399 2.212 3.235 -0.258362 NA 0.49 0.222907 0.074444 NA 0.239 NA 11.6896264 491 2 102968007 102968007 G A exonic IL1RL1 NA nonsynonymous SNV IL1RL1:NM_016232:exon11:c.G1297A:p.A433T exonic ENSG00000115602 NA nonsynonymous SNV ENSG00000115602:ENST00000233954:exon11:c.G1297A:p.A433T NA NA 2q12.1 NA Name=GATA-2 Name=9 NA rs4988956 0.4 0.4 0.415 0.385383 0.4046 0.126 0.2853 0.7542 0.2055 0.41 0.15 0.31 0.76 0.3514 0.76 0.08 T 0.693 P 0.201 B 0.030 N 1.000 P 2.095 M 3.15 T -1.097 T 0.000 T 0.024 1.729 11.74 2.35 0.186 1.282 6.596 1.729188 1.729188 0.14 0.38907 0.704721 NA 0.413 NA 11.6882634 491 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),GTF2B,TBP,HEY1,ZNF263 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 491 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=Max,c-Myc 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 491 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 491 11 92086513 92086513 C T exonic FAT3 NA nonsynonymous SNV FAT3:NM_001008781:exon1:c.C1235T:p.S412F exonic ENSG00000165323 NA nonsynonymous SNV ENSG00000165323:ENST00000298047:exon1:c.C1235T:p.S412F,ENSG00000165323:ENST00000409404:exon1:c.C1235T:p.S412F,ENSG00000165323:ENST00000525166:exon1:c.C785T:p.S262F,ENSG00000165323:ENST00000541502:exon1:c.C1235T:p.S412F Score=391;Name=lod=52 NA 11q14.3 NA NA NA NA rs10830902 0.05 0.05 0.056 0.0547125 0.0437 0.001 0.0389 0.1498 0.0041 0.04 NA 0.04 0.13 0.0467 0.14 0.08 T 0.651 P 0.277 B . . 0.009 P 1.39 L 0.12 T -1.039 T 0.002 T 0.215 2.462 14.19 4.7 1.342 2.069 8.609 2.461566 2.461566 0.02 0.055691 0.137588 NA 0.051 NA 11.6872424 491 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 492 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 492 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$STAT5A_01 NA NA NA rs2070325 0.47 0.47 0.42 0.465455 0.3797 0.7569 0.4611 0.2693 0.5215 0.39 0.76 0.43 0.29 0.4094 0.76 0.15 T 0.677 P 0.42 B 0.001 N 0.457 P 1.445 L 3.29 T -1.175 T 0.000 T 0.245 2.766 15.21 3.94 1.649 3.418 9.115 2.766176 2.766176 0.06 0.36186 0.266228 NA 0.435 NA 11.6823734 492 4 156289917 156289917 G A exonic MAP9 NA nonsynonymous SNV MAP9:NM_001039580:exon5:c.C529T:p.R177W exonic ENSG00000164114 NA nonsynonymous SNV ENSG00000164114:ENST00000379248:exon4:c.C310T:p.R104W,ENSG00000164114:ENST00000311277:exon5:c.C529T:p.R177W,ENSG00000164114:ENST00000424373:exon5:c.C529T:p.R177W,ENSG00000164114:ENST00000433024:exon5:c.C526T:p.R176W,ENSG00000164114:ENST00000515654:exon5:c.C529T:p.R177W Score=391;Name=lod=52 NA 4q32.1 NA NA NA NA rs3733391 0.16 0.16 0.156 0.169529 0.2406 0.2054 0.1282 0.0197 0.2914 0.22 0.21 0.14 0.02 0.2074 0.22 0.04 D 0.116 B 0.011 B 0.736 N 0.184 P 2.045 M 1.98 T -1.088 T 0.000 T 0.256 1.968 12.54 3.12 0.496 2.687 6.310 1.968422 1.968422 0.06 0.206628 0.051067 ID=COSM1428168;OCCURENCE=1(large_intestine) 0.123 NA 11.6787054 492 8 121013770 121013770 A G exonic DEPTOR NA nonsynonymous SNV DEPTOR:NM_022783:exon5:c.A611G:p.N204S exonic ENSG00000155792 NA nonsynonymous SNV ENSG00000155792:ENST00000523492:exon3:c.A308G:p.N103S,ENSG00000155792:ENST00000286234:exon5:c.A611G:p.N204S Score=483;Name=lod=122 NA 8q24.12 Score=759;Name=V$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 492 9 712156 712156 T G exonic KANK1 NA nonsynonymous SNV KANK1:NM_153186:exon2:c.T916G:p.S306A,KANK1:NM_015158:exon3:c.T1390G:p.S464A,KANK1:NM_001256877:exon4:c.T1390G:p.S464A,KANK1:NM_001256876:exon7:c.T1390G:p.S464A exonic ENSG00000107104 NA nonsynonymous SNV ENSG00000107104:ENST00000382293:exon2:c.T916G:p.S306A,ENSG00000107104:ENST00000382297:exon3:c.T1390G:p.S464A,ENSG00000107104:ENST00000382303:exon7:c.T1390G:p.S464A Score=393;Name=lod=53 NA 9p24.3 NA NA Name=6 NA rs912174 0.22 0.22 0.188 0.204473 0.2137 0.1935 0.3084 0.2534 0.0665 0.2 0.17 0.31 0.22 0.2189 0.31 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.215 N 1.48 T -0.952 T 0.000 T 0.068 -0.022 3.902 5.52 1.362 2.358 15.586 -0.021755 NA 1 0.223256 0.25488 ID=COSM150570;OCCURENCE=1(stomach) 0.188 NA 11.6774774 492 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 492 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=ELK4,c-Fos,ZNF263,Sin3Ak-20,Mxi1_(bHLH),SREBP1,ELF1_(SC-631),Pbx3,Pol2 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 492 19 36290977 36290977 C T exonic PRODH2 NA nonsynonymous SNV PRODH2:NM_021232:exon11:c.G1574A:p.R525Q exonic ENSG00000250799 NA nonsynonymous SNV ENSG00000250799:ENST00000301175:exon11:c.G1574A:p.R525Q Score=358;Name=lod=38 NA 19q13.12 NA NA NA NA rs3761097 0.07 0.07 0.058 0.0595048 0.0537 0.1567 0.0533 0.0204 0.0225 0.04 0.16 0.06 0.02 0.0557 0.16 0.02 D 0.553 P 0.047 B . . 0.000 P 3.005 M 1.46 T -1.091 T 0.000 T 0.115 4.065 20.9 3.15 0.820 0.702 9.672 4.064851 4.064851 0.01 0.048372 0.020427 ID=COSM1392976;OCCURENCE=2(large_intestine) 0.014 NA 11.6755614 493 1 215916563 215916563 G A exonic USH2A NA nonsynonymous SNV USH2A:NM_206933:exon59:c.C11504T:p.T3835I exonic ENSG00000042781 NA nonsynonymous SNV ENSG00000042781:ENST00000307340:exon59:c.C11504T:p.T3835I,ENSG00000042781:ENST00000366943:exon59:c.C11504T:p.T3835I Score=497;Name=lod=139 NA 1q41 NA NA NA NA rs11120616 0.18 0.18 0.14 0.144569 0.2346 0.0843 0.1931 0.149 0.0736 0.23 0.1 0.22 0.17 0.1918 0.23 0.21 T 0.055 B 0.055 B 0.926 N 0.000 P 1.04 L 0.35 T -1.119 T 0.000 T 0.136 2.036 12.76 4.94 2.706 1.348 11.574 2.036066 2.036066 0.05 0.23314 0.142533 ID=COSM146767;OCCURENCE=1(stomach) 0.138 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041698.1|RCV000126260.1;CLNDSDB=.|.;CLNDSDBID=.|. 11.6737934 493 1 171076966 171076966 G A exonic FMO3 NA nonsynonymous SNV FMO3:NM_001002294:exon4:c.G472A:p.E158K,FMO3:NM_006894:exon4:c.G472A:p.E158K exonic ENSG00000007933 NA nonsynonymous SNV ENSG00000007933:ENST00000538429:exon3:c.G283A:p.E95K,ENSG00000007933:ENST00000367755:exon4:c.G472A:p.E158K,ENSG00000007933:ENST00000392085:exon4:c.G472A:p.E158K,ENSG00000007933:ENST00000542847:exon5:c.G412A:p.E138K Score=460;Name=lod=99 NA 1q24.3 Score=748;Name=V$STAT5A_02 NA NA NA rs2266782 0.35 0.35 0.34 0.347843 0.3668 0.1905 0.3199 0.4955 0.3108 0.38 0.21 0.3 0.52 0.383 0.52 0.73 T 0.481 P 0.164 B 0.071 N 0.992 P 1.385 L 0.5 T -1.097 T 0.052 T 0.282 1.262 10.12 3.78 2.130 0.182 10.54 1.262427 1.262427 0.57 0.410465 0.465275 NA 0.428 CLINSIG=other|pathogenic;CLNDBN=Trimethylaminuria\x2c_mild|Trimethylaminuria;CLNREVSTAT=single|single;CLNACC=RCV000017711.1|RCV000020653.1;CLNDSDB=.|GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=.|NBK1103:C0342739:602079:237959005 11.6730684 494 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 494 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 494 9 78937974 78937974 C T exonic PCSK5 NA nonsynonymous SNV PCSK5:NM_001190482:exon31:c.C4028T:p.T1343M exonic ENSG00000099139 NA nonsynonymous SNV ENSG00000099139:ENST00000424854:exon25:c.C3128T:p.T1043M,ENSG00000099139:ENST00000545128:exon31:c.C4028T:p.T1343M Score=381;Name=lod=47 NA 9q21.13 Score=784;Name=V$PAX6_01 NA Name=4 NA rs3001772 0.47 0.47 0.486 0.489417 0.5487 0.2093 0.4337 0.6846 0.4928 0.55 0.19 0.45 0.66 0.579 0.66 0.16 T . . . . 0.020 N 0.000 P -0.42 N 1.54 T -1.065 T 0.000 T 0.074 1.306 10.28 5.65 0.976 1.767 10.917 1.305791 1.305791 0.44 0.544952 0.650114 NA 0.478 NA 11.6606814 494 7 158473458 158473458 C T exonic NCAPG2 NA synonymous SNV NCAPG2:NM_017760:exon10:c.G975A:p.E325E exonic ENSG00000146918 NA synonymous SNV ENSG00000146918:ENST00000275830:exon5:c.G351A:p.E117E,ENSG00000146918:ENST00000356309:exon10:c.G975A:p.E325E,ENSG00000146918:ENST00000409339:exon10:c.G975A:p.E325E,ENSG00000146918:ENST00000409423:exon11:c.G975A:p.E325E,ENSG00000146918:ENST00000432615:exon11:c.G975A:p.E325E,ENSG00000146918:ENST00000449727:exon11:c.G975A:p.E325E Score=495;Name=lod=137 NA 7q36.3 NA NA NA NA rs182403876 0.0041 0.0041 NA 0.0123802 NA 0.0179 0.0029 0.0053 0.0358 NA 0.01 0.0028 0.01 0.0074 0.011 . . . . . . . . 1.000 D . . . . -0.986 T 0.108 T . -0.782 0.726 3.02 1.333 1.201 4.339 -0.78174 NA NA 0.000246 0.005246 NA 0.007 NA 11.6590206 494 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 494 17 60814273 60814273 A G exonic MARCH10 NA nonsynonymous SNV MARCH10:NM_001100875:exon6:c.T956C:p.F319S,MARCH10:NM_152598:exon6:c.T956C:p.F319S exonic ENSG00000173838 NA nonsynonymous SNV ENSG00000173838:ENST00000580520:exon2:c.T560C:p.F187S,ENSG00000173838:ENST00000311269:exon6:c.T956C:p.F319S,ENSG00000173838:ENST00000456609:exon6:c.T956C:p.F319S,ENSG00000173838:ENST00000544856:exon7:c.T953C:p.F318S,ENSG00000173838:ENST00000583600:exon7:c.T1070C:p.F357S NA NA 17q23.2 NA NA NA NA rs9891498 0.3 0.3 0.254 0.271965 0.4215 0.2083 0.3876 0.1324 0.2904 0.42 0.2 0.41 0.13 0.3595 0.42 0.02 D 0.993 D 0.775 P 0.054 N 1.000 P 2.19 M 0.29 T -0.987 T 0.000 T 0.604 0.943 8.846 2.75 0.775 1.449 8.95 0.943485 NA 0 0.393721 0.18611 NA 0.217 NA 11.6586124 494 3 27472936 27472936 C T exonic SLC4A7 NA nonsynonymous SNV SLC4A7:NM_003615:exon7:c.G976A:p.E326K exonic ENSG00000033867 NA nonsynonymous SNV ENSG00000033867:ENST00000295736:exon7:c.G976A:p.E326K,ENSG00000033867:ENST00000425128:exon7:c.G952A:p.E318K,ENSG00000033867:ENST00000438530:exon7:c.G952A:p.E318K,ENSG00000033867:ENST00000440156:exon7:c.G964A:p.E322K,ENSG00000033867:ENST00000445684:exon7:c.G964A:p.E322K,ENSG00000033867:ENST00000446700:exon7:c.G952A:p.E318K,ENSG00000033867:ENST00000454389:exon7:c.G1003A:p.E335K Score=397;Name=lod=55 NA 3p24.1 NA Name=GATA3_(SC-268) NA NA rs3755652 0.13 0.13 0.122 0.129193 0.2266 0.0565 0.1643 0.0461 0.1912 0.22 0.03 0.19 0.04 0.1982 0.25 0.87 T 0.012 B 0.037 B 0.016 N 0.000 P 0.145 N 0.42 T -1.102 T 0.000 T 0.147 0.152 4.815 5.12 1.560 2.454 15.793 0.15153 NA 0.92 0.251047 0.08148 NA 0.094 NA 11.6574864 494 3 167184878 167184878 T C exonic SERPINI2 NA nonsynonymous SNV SERPINI2:NM_006217:exon3:c.A443G:p.E148G,SERPINI2:NM_001012303:exon4:c.A473G:p.E158G exonic ENSG00000114204 NA nonsynonymous SNV ENSG00000114204:ENST00000467583:exon2:c.A398G:p.E133G,ENSG00000114204:ENST00000471111:exon2:c.A443G:p.E148G,ENSG00000114204:ENST00000264677:exon3:c.A443G:p.E148G,ENSG00000114204:ENST00000461846:exon3:c.A443G:p.E148G,ENSG00000114204:ENST00000466903:exon4:c.A443G:p.E148G,ENSG00000114204:ENST00000476257:exon4:c.A443G:p.E148G Score=637;Name=lod=518 NA 3q26.1 NA NA Name=2 NA rs9841174 0.43 0.43 0.403 0.41254 0.4006 0.506 0.379 0.3737 0.4049 0.4 0.49 0.4 0.41 0.3971 0.49 0.07 T 0.722 P 0.438 B 0.037 N 0.996 P 1.34 L -1.89 D -0.999 T 0.000 T 0.266 2.984 15.95 3.34 0.452 2.515 10.059 2.984489 2.984489 0.34 0.379186 0.365411 NA 0.413 NA 11.6564474 495 16 84906098 84906098 C G exonic CRISPLD2 NA nonsynonymous SNV CRISPLD2:NM_031476:exon9:c.C965G:p.T322S exonic ENSG00000103196 NA nonsynonymous SNV ENSG00000103196:ENST00000563066:exon8:c.C494G:p.T165S,ENSG00000103196:ENST00000262424:exon9:c.C965G:p.T322S,ENSG00000103196:ENST00000564567:exon9:c.C965G:p.T322S,ENSG00000103196:ENST00000567845:exon9:c.C962G:p.T321S Score=349;Name=lod=35 NA 16q24.1 NA NA NA NA rs721005 0.47 0.47 0.499 0.485024 0.3857 0.6488 0.2911 0.5703 0.4407 0.37 0.66 0.29 0.55 0.408 0.66 0.79 T 0.46 P 0.284 B 0.000 N 0.000 P 0.67 N -2.44 D -0.985 T 0.000 T 0.396 -0.063 3.694 5.01 2.481 5.047 14.201 -0.062909 NA 0.61 0.388023 0.546385 ID=COSM148136;OCCURENCE=1(stomach) 0.478 NA 11.6516104 495 4 38051499 38051499 A G exonic TBC1D1 NA synonymous SNV TBC1D1:NM_001253912:exon11:c.A1890G:p.T630T,TBC1D1:NM_015173:exon11:c.A1890G:p.T630T exonic ENSG00000065882 NA synonymous SNV ENSG00000065882:ENST00000421339:exon2:c.A294G:p.T98T,ENSG00000065882:ENST00000446803:exon10:c.A1503G:p.T501T,ENSG00000065882:ENST00000261439:exon11:c.A1890G:p.T630T,ENSG00000065882:ENST00000508802:exon11:c.A1890G:p.T630T Score=554;Name=lod=238 NA 4p14 Score=840;Name=V$GR_Q6 NA NA NA rs140029744 0.0027 0.0027 0.002 0.00259585 0.0099 NA 0.0043 NA NA 0.01 NA NA NA 0.003 0.011 . . . . . . . . 1.000 D . . . . -0.964 T 0.142 T . 1.423 10.7 2.55 0.328 1.601 6.799 1.42341 1.42341 NA 0.00502 0.001369 NA 0.007 NA 11.6487466 496 1 1430985 1430985 C T exonic ATAD3B NA nonsynonymous SNV ATAD3B:NM_031921:exon16:c.C1735T:p.R579C exonic ENSG00000160072 NA nonsynonymous SNV ENSG00000160072:ENST00000308647:exon16:c.C1735T:p.R579C NA NA 1p36.33 NA NA NA NA rs139902189 0.08 0.08 0.072 0.0784744 0.0577 0.126 0.0908 0.0371 0.0982 0.06 0.13 0.11 0.04 0.076 0.13 0.02 D 0.99 D 0.556 P 0.732 U 1.000 P 1.1 L -3.31 D -0.688 T 0.024 T 0.136 1.373 10.52 0.203 0.070 -2.162 3.358 1.373408 1.373408 0 0.055866 0.03291 NA 0.058 NA 11.6437674 496 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 496 8 55539395 55539395 A T exonic RP1 NA nonsynonymous SNV RP1:NM_006269:exon4:c.A2953T:p.N985Y exonic ENSG00000104237 NA nonsynonymous SNV ENSG00000104237:ENST00000220676:exon4:c.A2953T:p.N985Y NA NA 8q12.1 NA NA NA NA rs2293869 0.26 0.26 0.245 0.25 0.4264 0.0675 0.2522 0.1952 0.3292 0.43 0.08 0.3 0.18 0.3475 0.43 0 D 0.981 D 0.819 P 0.038 N 1.000 P 1.995 M 0.46 T -0.963 T 0.000 T 0.251 1.354 10.45 1.94 0.093 1.592 5.951 1.354246 1.354246 0 0.416744 0.214253 NA 0.304 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Hypertriglyceridemia\x2c_susceptibility_to|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000006333.2|RCV000081369.1;CLNDSDB=.|.;CLNDSDBID=.|. 11.6426894 496 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 496 6 43273604 43273604 A G exonic CRIP3 NA nonsynonymous SNV CRIP3:NM_206922:exon8:c.T563C:p.I188T exonic ENSG00000146215 NA nonsynonymous SNV ENSG00000146215:ENST00000372569:exon8:c.T563C:p.I188T Score=569;Name=lod=275 NA 6p21.1 Score=768;Name=V$YY1_02 NA NA NA rs2242416 0.46 0.46 0.438 0.416933 0.5765 0.621 0.4035 0.0719 0.5184 0.58 0.65 0.43 0.06 0.5337 0.65 0.61 T 0.093 B 0.047 B . . 0.000 P . . -3.03 D -0.412 T 0.428 T 0.063 1.28 10.18 5.77 2.200 4.562 14.039 1.279807 1.279807 0.72 0.585681 0.160592 NA 0.377 NA 11.6374524 497 1 36807481 36807481 C T exonic STK40 NA nonsynonymous SNV STK40:NM_032017:exon12:c.G1183A:p.A395T exonic ENSG00000196182 NA nonsynonymous SNV ENSG00000196182:ENST00000373130:exon11:c.G1198A:p.A400T,ENSG00000196182:ENST00000373132:exon11:c.G1183A:p.A395T,ENSG00000196182:ENST00000373129:exon12:c.G1183A:p.A395T Score=539;Name=lod=207 NA 1p34.3 NA NA NA NA rs3795498 0.17 0.17 0.162 0.179113 0.2336 0.1429 0.1369 0.1672 0.2065 0.23 0.12 0.15 0.16 0.2128 0.25 0.25 T 0.04 B 0.005 B 0.000 D 0.000 P 0.345 N -0.02 T -1.106 T 0.000 T 0.061 3.555 18.13 5.11 2.370 5.664 17.506 3.554608 3.554608 0.16 0.25314 0.194734 ID=COSM330293,COSM330292;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.261 NA 11.6337934 497 17 46688256 46688256 T C exonic HOXB7 NA nonsynonymous SNV HOXB7:NM_004502:exon1:c.A25G:p.T9A exonic ENSG00000260027 NA nonsynonymous SNV ENSG00000260027:ENST00000239165:exon1:c.A25G:p.T9A Score=743;Name=lod=1389 NA 17q21.32 Score=874;Name=V$OCT1_05 Name=TBP,BAF170,USF2 Name=77 NA rs7406910 0.85 0.85 0.857 0.834265 0.9056 0.8562 0.8228 0.8094 0.7802 0.91 0.86 0.84 0.77 0.8795 0.92 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.47 N 1.84 T -0.970 T 0.000 T 0.025 0.406 6.205 4.26 1.024 3.598 12.054 0.406059 NA 1 0.915381 0.830093 NA 0.862 NA 11.6328524 497 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 497 14 81737076 81737076 A C exonic STON2 NA nonsynonymous SNV STON2:NM_033104:exon6:c.T2551G:p.S851A,STON2:NM_001256430:exon7:c.T2551G:p.S851A exonic ENSG00000140022 NA nonsynonymous SNV ENSG00000140022:ENST00000267540:exon5:c.T2551G:p.S851A,ENSG00000140022:ENST00000555447:exon7:c.T2551G:p.S851A Score=550;Name=lod=229 NA 14q31.1 NA NA NA NA rs2241621 0.44 0.44 0.446 0.432907 0.5944 0.378 0.4928 0.2201 0.5685 0.59 0.42 0.52 0.18 0.5224 0.59 0.17 T 0.997 D 0.992 D 0.000 D 0.001 P 1.73 L 2.06 T -0.942 T 0.000 T 0.505 3.025 16.09 4.41 0.900 3.301 11.853 3.024531 3.024531 0.03 0.589535 0.292102 NA 0.5 NA 11.6269984 498 1 221053545 221053545 T C exonic HLX NA nonsynonymous SNV HLX:NM_021958:exon1:c.T346C:p.S116P exonic ENSG00000136630 NA nonsynonymous SNV ENSG00000136630:ENST00000366903:exon1:c.T346C:p.S116P Score=366;Name=lod=41 NA 1q41 NA Name=SUZ12,CTCFL_(SC-98982),SMC3_(ab9263),CTCF Name=22 NA rs12141189 0.23 0.23 0.216 0.210863 0.2505 0.2252 0.2767 0.171 0.1626 0.26 0.22 0.29 0.18 0.2416 0.29 0.33 T 0.048 B 0.023 B 0.001 N 0.000 P 0.145 N 1.36 T -0.957 T 0.000 T 0.067 4.04 20.7 3.44 0.894 1.154 7.655 4.040183 4.040183 0.12 0.221911 0.192711 ID=COSM425363;OCCURENCE=1(breast) 0.268 NA 11.6193224 498 9 131285955 131285955 A G exonic GLE1 NA nonsynonymous SNV GLE1:NM_001003722:exon6:c.A727G:p.I243V,GLE1:NM_001499:exon6:c.A727G:p.I243V exonic ENSG00000119392 NA nonsynonymous SNV ENSG00000119392:ENST00000309971:exon6:c.A727G:p.I243V,ENSG00000119392:ENST00000372770:exon6:c.A727G:p.I243V NA NA 9q34.11 NA Name=CTCF Name=66 NA rs2275260 0.32 0.32 0.319 0.347444 0.2465 0.4782 0.2378 0.3767 0.3548 0.25 0.44 0.22 0.37 0.2679 0.44 0.31 T 0.0 B 0.001 B 0.558 N 0.007 P -0.69 N 0.47 T -0.941 T 0.000 T 0.006 -1.207 0.069 -2.42 -1.235 1.744 7.944 -1.206997 NA 0.63 0.201395 0.388334 NA 0.326 NA 11.6175384 499 15 45392075 45392075 G A exonic DUOX2 NA nonsynonymous SNV DUOX2:NM_014080:exon25:c.C3200T:p.S1067L exonic ENSG00000140279 NA nonsynonymous SNV ENSG00000140279:ENST00000389039:exon25:c.C3200T:p.S1067L,ENSG00000140279:ENST00000603300:exon25:c.C3200T:p.S1067L Score=449;Name=lod=89 NA 15q21.1 NA NA NA NA rs269868 0.76 0.76 0.729 0.720248 0.9304 0.9514 0.804 0.1604 0.9632 0.93 0.94 0.85 0.19 0.8644 0.94 0.03 D 0.025 B 0.02 B 0.000 D 0.000 P 2.125 M . . -0.941 T 0.000 T 0.142 3.41 17.52 5.6 2.653 7.934 18.606 3.410266 3.410266 0.05 0.924616 0.268881 NA 0.732 NA 11.6139174 499 X 38144822 38144822 C T exonic RPGR NA nonsynonymous SNV RPGR:NM_001034853:exon15:c.G3430A:p.V1144I exonic ENSG00000156313 NA nonsynonymous SNV ENSG00000156313:ENST00000378505:exon15:c.G3430A:p.V1144I Score=409;Name=lod=61 NA Xp11.4 NA NA NA NA rs12688514 0.15 0.15 0.15501 NA NA NA NA NA NA 0.08 0.38 0.17 0.0027 0.1376 0.38 0 D 0.799 P 0.12 B . . 0.000 P . . 0.52 T -1.072 T 0.000 T 0.051 1.438 10.75 2.72 0.649 2.037 7.241 1.437888 1.437888 0 0.086504 0.018262 NA 0.116 NA 11.6092294 499 11 61913196 61913196 G T exonic INCENP NA nonsynonymous SNV INCENP:NM_020238:exon13:c.G1920T:p.E640D,INCENP:NM_001040694:exon14:c.G1932T:p.E644D exonic ENSG00000149503 NA nonsynonymous SNV ENSG00000149503:ENST00000278849:exon13:c.G1920T:p.E640D,ENSG00000149503:ENST00000394818:exon14:c.G1932T:p.E644D Score=457;Name=lod=96 NA 11q12.3 Score=857;Name=V$ELK1_01 NA NA NA rs7129085 0.35 0.35 0.353 0.29393 0.6252 0.12 0.3444 0.1974 0.227 0.62 0.08 0.38 0.24 0.4805 0.62 0.09 T 1.0 D 0.996 D 0.000 D 0.175 P 1.625 L 2.17 T -0.935 T 0.000 T 0.098 2.39 13.95 0.398 0.281 1.144 8.874 2.390187 2.390187 0.06 0.620266 0.261078 NA 0.348 NA 11.6073674 500 6 28327371 28327371 G C exonic ZKSCAN3 NA nonsynonymous SNV ZKSCAN3:NM_024493:exon2:c.G8C:p.R3T,ZKSCAN3:NM_001242894:exon3:c.G8C:p.R3T exonic ENSG00000189298 NA nonsynonymous SNV ENSG00000189298:ENST00000252211:exon2:c.G8C:p.R3T,ENSG00000189298:ENST00000377255:exon3:c.G8C:p.R3T Score=284;Name=lod=19 NA 6p22.1 NA NA NA NA rs733743 0.12 0.12 0.102 0.10643 0.0775 0.2381 0.1153 0.0598 0.0573 0.08 0.24 0.1 0.07 0.0857 0.24 1 T 0.799 P 0.276 B . . 0.005 P 0.695 N 3.58 T -1.011 T 0.003 T 0.155 2.079 12.91 2.87 2.139 1.544 7.060 2.079483 2.079483 0.16 0.070349 0.060145 NA 0.065 NA 11.5997844 500 14 92548785 92548785 C T exonic ATXN3 NA nonsynonymous SNV ATXN3:NM_001164779:exon4:c.G271A:p.V91M,ATXN3:NM_001164780:exon5:c.G97A:p.V33M,ATXN3:NM_001127697:exon6:c.G481A:p.V161M,ATXN3:NM_001164781:exon6:c.G424A:p.V142M,ATXN3:NM_001127696:exon7:c.G589A:p.V197M,ATXN3:NM_030660:exon7:c.G469A:p.V157M,ATXN3:NM_004993:exon8:c.G634A:p.V212M exonic ENSG00000066427 NA nonsynonymous SNV ENSG00000066427:ENST00000557311:exon3:c.G97A:p.V33M,ENSG00000066427:ENST00000502250:exon5:c.G97A:p.V33M,ENSG00000066427:ENST00000506466:exon5:c.G436A:p.V146M,ENSG00000066427:ENST00000556220:exon5:c.G316A:p.V106M,ENSG00000066427:ENST00000557030:exon5:c.G436A:p.V146M,ENSG00000066427:ENST00000526872:exon6:c.G499A:p.V167M,ENSG00000066427:ENST00000553491:exon6:c.G481A:p.V161M,ENSG00000066427:ENST00000554672:exon6:c.G340A:p.V114M,ENSG00000066427:ENST00000555381:exon6:c.G424A:p.V142M,ENSG00000066427:ENST00000340660:exon7:c.G469A:p.V157M,ENSG00000066427:ENST00000429774:exon7:c.G589A:p.V197M,ENSG00000066427:ENST00000503767:exon7:c.G589A:p.V197M,ENSG00000066427:ENST00000393287:exon8:c.G634A:p.V212M,ENSG00000066427:ENST00000532032:exon8:c.G634A:p.V212M,ENSG00000066427:ENST00000545170:exon8:c.G634A:p.V212M,ENSG00000066427:ENST00000554592:exon8:c.G631A:p.V211M Score=412;Name=lod=63 NA 14q32.12 NA NA NA NA rs1048755 0.31 0.31 0.318 0.32508 0.2237 0.4405 0.1455 0.3767 0.3681 0.23 0.44 0.14 0.4 0.2714 0.44 0.18 T 0.125 B 0.087 B 0.088 N 0.992 P 0.895 L 2.18 T -0.913 T 0.000 T 0.417 2.203 13.32 3.26 1.243 2.237 11.607 2.203207 2.203207 0.05 0.242674 0.33182 NA 0.312 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116481.2;CLNDSDB=.;CLNDSDBID=. 11.5955594 501 3 52861211 52861211 A T exonic ITIH4 NA nonsynonymous SNV ITIH4:NM_001166449:exon3:c.T254A:p.I85N,ITIH4:NM_002218:exon3:c.T254A:p.I85N exonic ENSG00000055955 NA nonsynonymous SNV ENSG00000055955:ENST00000266041:exon3:c.T254A:p.I85N,ENSG00000055955:ENST00000346281:exon3:c.T254A:p.I85N,ENSG00000055955:ENST00000406595:exon3:c.T254A:p.I85N,ENSG00000055955:ENST00000485816:exon3:c.T254A:p.I85N Score=385;Name=lod=49 NA 3p21.1 NA NA NA NA rs13072536 0.29 0.29 0.257 0.245208 0.2584 0.3175 0.379 0.1997 0.1237 0.26 0.37 0.37 0.17 0.2478 0.37 0.19 T 0.979 D 0.917 D 0.122 N 0.000 P 1.2 L 1.94 T -0.941 T 0.000 T 0.107 2.799 15.32 3.03 0.363 2.393 6.909 2.798959 2.798959 0.02 0.23314 0.215388 NA 0.159 NA 11.5939934 501 4 151199080 151199080 G A exonic LRBA NA nonsynonymous SNV LRBA:NM_001199282:exon56:c.C8390T:p.S2797L,LRBA:NM_006726:exon57:c.C8426T:p.S2809L exonic ENSG00000198589 NA nonsynonymous SNV ENSG00000198589:ENST00000510413:exon56:c.C8390T:p.S2797L,ENSG00000198589:ENST00000535741:exon56:c.C8393T:p.S2798L,ENSG00000198589:ENST00000357115:exon57:c.C8426T:p.S2809L Score=475;Name=lod=114 NA 4q31.3 Score=938;Name=V$LMO2COM_01 NA NA NA rs2290846 0.19 0.19 0.175 0.142173 0.2704 0.2371 0.1326 0.0121 0.0951 0.27 0.26 0.17 0.02 0.2028 0.27 0.67 T 0.226 B 0.066 B 0.026 N 0.000 P 1.04 L 1.14 T -1.017 T 0.000 T 0.321 1.965 12.53 4.37 2.441 2.360 13.956 1.965397 1.965397 0.59 0.267674 0.053109 NA 0.261 NA 11.5924594 501 21 43413553 43413553 T G exonic ZBTB21 NA nonsynonymous SNV ZBTB21:NM_020727:exon2:c.A652C:p.K218Q,ZBTB21:NM_001098402:exon3:c.A652C:p.K218Q,ZBTB21:NM_001098403:exon3:c.A652C:p.K218Q exonic ENSG00000173276 NA nonsynonymous SNV ENSG00000173276:ENST00000398511:exon2:c.A652C:p.K218Q,ENSG00000173276:ENST00000310826:exon3:c.A652C:p.K218Q,ENSG00000173276:ENST00000398505:exon3:c.A652C:p.K218Q,ENSG00000173276:ENST00000398499:exon4:c.A652C:p.K218Q NA NA 21q22.3 Score=877;Name=V$OCT1_07 NA NA NA rs871546 0.17 0.17 0.179 0.175319 0.2634 0.0764 0.1297 0.1415 0.2648 0.28 0.07 0.15 0.12 0.2219 0.28 0.03 D 0.041 B 0.032 B 0.320 N 1.000 P 1.79 L 3.08 T -1.012 T 0.000 T 0.143 4.007 20.5 4.64 1.011 3.556 11.897 4.00678 4.00678 0.03 0.258372 0.165456 NA 0.188 NA 11.5896614 501 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 501 1 38023316 38023316 C T exonic DNALI1 NA nonsynonymous SNV DNALI1:NM_003462:exon2:c.C260T:p.A87V exonic ENSG00000163879 NA nonsynonymous SNV ENSG00000163879:ENST00000296218:exon2:c.C260T:p.A87V Score=588;Name=lod=326 NA 1p34.3 NA NA NA NA rs11749 0.24 0.24 0.193 0.204273 0.2535 0.3502 0.2046 0.0681 0.1871 0.25 0.38 0.23 0.07 0.236 0.38 0.32 T 0.749 P 0.492 P 0.002 N 0.000 P 0.205 N 0.97 T -0.909 T 0.000 T 0.197 4.347 22.9 5.76 2.725 3.974 17.450 4.346647 4.346647 0.11 0.257093 0.096913 NA 0.196 NA 11.5867404 501 7 95041016 95041016 G C exonic PON2 NA nonsynonymous SNV PON2:NM_000305:exon5:c.C443G:p.A148G,PON2:NM_001018161:exon5:c.C407G:p.A136G exonic ENSG00000105854 NA nonsynonymous SNV ENSG00000105854:ENST00000222572:exon5:c.C443G:p.A148G,ENSG00000105854:ENST00000433091:exon5:c.C407G:p.A136G,ENSG00000105854:ENST00000455123:exon5:c.C443G:p.A148G,ENSG00000105854:ENST00000536183:exon5:c.C506G:p.A169G Score=613;Name=lod=414 NA 7q21.3 NA NA NA NA rs12026 0.26 0.26 0.234 0.282149 0.2485 0.1885 0.232 0.3283 0.3865 0.25 0.18 0.24 0.35 0.271 0.35 1 T 0.009 B 0.007 B 0.001 D 0.984 P 0.55 N 2.27 T -0.966 T 0.000 T 0.091 0.633 7.402 2.55 0.452 5.652 8.399 0.633 NA 0.02 0.227907 0.282115 NA 0.239 CLINSIG=non-pathogenic;CLNDBN=PARAOXONASE_2_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000007501.1;CLNDSDB=.;CLNDSDBID=. 11.5859264 502 22 37462936 37462936 A G exonic TMPRSS6 NA nonsynonymous SNV TMPRSS6:NM_153609:exon17:c.T2207C:p.V736A exonic ENSG00000187045 NA nonsynonymous SNV ENSG00000187045:ENST00000346753:exon17:c.T2207C:p.V736A,ENSG00000187045:ENST00000406725:exon17:c.T2180C:p.V727A,ENSG00000187045:ENST00000381792:exon18:c.T2246C:p.V749A,ENSG00000187045:ENST00000406856:exon18:c.T2246C:p.V749A Score=517;Name=lod=169 Name=mean corpuscular hemoglobin concentration,Mean corpuscular volume,Red blood cell traits,Hematology traits,Glycated hemoglobin levels,Hepcidin levels,Hemoglobin,Mean corpuscular hemoglobin,Iron status biomarkers,Mean corpuscular hemoglobin concentration 22q12.3 NA NA NA NA rs855791 0.6 0.6 0.606 0.604633 0.6123 0.4345 0.487 0.8994 0.4571 0.6 0.44 0.49 0.87 0.573 0.87 0.39 T 0.0 B 0.0 B 0.000 N 0.000 P -0.4 N -2.27 D -0.945 T 0.000 T 0.062 2.198 13.3 4.72 0.980 4.736 9.466 2.197511 2.197511 0.72 0.564884 0.84158 ID=COSM149289;OCCURENCE=1(stomach) 0.623 NA 11.5831494 502 20 35731181 35731181 G C exonic MROH8 NA unknown UNKNOWN exonic ENSG00000101353 NA nonsynonymous SNV ENSG00000101353:ENST00000217333:exon20:c.C2525G:p.T842S,ENSG00000101353:ENST00000400441:exon24:c.C3038G:p.T1013S Score=433;Name=lod=77 NA 20q11.23 NA NA Name=4 NA rs117314541 0.01 0.01 0.009 0.0105831 0.0308 NA 0.0115 NA 0.0143 0.03 NA 0.01 NA 0.0222 0.032 0.07 T 0.07 B 0.025 B 0.007 N 0.997 N 0.345 N 1.43 T -0.994 T 0.056 T 0.327 1.594 11.29 5.57 2.614 4.382 15.043 1.594471 1.594471 0.07 0.031742 0.004687 NA NA NA 11.5819247 502 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 502 11 64789194 64789194 T C exonic ARL2 NA nonsynonymous SNV ARL2:NM_001199745:exon4:c.T341C:p.V114A,ARL2:NM_001667:exon5:c.T422C:p.V141A exonic ENSG00000213465 NA nonsynonymous SNV ENSG00000213465:ENST00000533729:exon4:c.T341C:p.V114A,ENSG00000213465:ENST00000246747:exon5:c.T422C:p.V141A,ENSG00000213465:ENST00000529384:exon5:c.T422C:p.V141A Score=583;Name=lod=312 NA 11q13.1 Score=872;Name=V$ZID_01 NA NA NA rs664226 0.48 0.48 0.508 0.457668 0.6064 0.1806 0.3905 0.7088 0.2986 0.6 0.16 0.45 0.67 0.5239 0.71 0.31 T 0.0 B 0.002 B 0.017 N 0.000 P -1.275 N -1.55 D -0.923 T 0.000 T 0.016 -0.27 2.707 3.5 1.136 2.192 8.155 -0.269614 NA 0.66 0.627561 0.706724 ID=COSM1132962;OCCURENCE=1(central_nervous_system) 0.493 NA 11.5754724 503 13 52523808 52523808 C T exonic ATP7B NA nonsynonymous SNV ATP7B:NM_000053:exon12:c.G2855A:p.R952K,ATP7B:NM_001243182:exon13:c.G2522A:p.R841K exonic ENSG00000123191 NA nonsynonymous SNV ENSG00000123191:ENST00000400370:exon4:c.G1565A:p.R522K,ENSG00000123191:ENST00000417240:exon6:c.G671A:p.R224K,ENSG00000123191:ENST00000448424:exon11:c.G2621A:p.R874K,ENSG00000123191:ENST00000242839:exon12:c.G2855A:p.R952K,ENSG00000123191:ENST00000418097:exon12:c.G2855A:p.R952K,ENSG00000123191:ENST00000400366:exon13:c.G2522A:p.R841K Score=574;Name=lod=287 NA 13q14.3 NA NA NA NA rs732774 0.52 0.52 0.507 0.53095 0.6034 0.4018 0.5836 0.5401 0.5399 0.59 0.4 0.6 0.5 0.5627 0.6 0.99 T 0.04 B 0.03 B 0.000 N 0.000 P -1.04 N -3.73 D -0.965 T 0.000 T 0.214 1.511 11 6.06 1.111 2.781 12.356 1.511456 1.511456 1 0.594608 0.521497 ID=COSM147691;OCCURENCE=1(stomach) 0.486 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Wilson's_disease|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000029357.1|RCV000078044.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009|. 11.5726254 503 22 50582626 50582626 A G exonic MOV10L1 NA nonsynonymous SNV MOV10L1:NM_001164104:exon18:c.A2459G:p.Q820R,MOV10L1:NM_001164105:exon18:c.A2399G:p.Q800R,MOV10L1:NM_018995:exon18:c.A2459G:p.Q820R exonic ENSG00000073146 NA nonsynonymous SNV ENSG00000073146:ENST00000262794:exon18:c.A2459G:p.Q820R,ENSG00000073146:ENST00000395858:exon18:c.A2459G:p.Q820R,ENSG00000073146:ENST00000540615:exon18:c.A2399G:p.Q800R,ENSG00000073146:ENST00000545383:exon19:c.A2459G:p.Q820R NA NA 22q13.33 Score=872;Name=V$ZID_01 Name=CTCFL_(SC-98982),CTCF_(SC-5916),CTCF,E2F6_(H-50) NA NA rs2272837 0.33 0.33 0.284 0.33746 0.2237 0.5734 0.402 0.1717 0.3896 0.23 0.6 0.35 0.16 0.3016 0.6 0.54 T 0.0 B 0.001 B 0.872 N 1.000 P -0.705 N -1.57 D -0.976 T 0.000 T 0.053 -0.572 1.424 -4.18 -0.519 1.697 8.685 -0.572018 NA 0.63 0.239767 0.193146 NA 0.232 NA 11.5682664 503 1 212985592 212985592 G A exonic;splicing TATDN3;TATDN3 NM_001042553:exon9:c.601-1G>A synonymous SNV TATDN3:NM_001146170:exon8:c.G540A:p.K180K,TATDN3:NM_001042552:exon9:c.G603A:p.K201K,TATDN3:NM_001146169:exon9:c.G624A:p.K208K,TATDN3:NM_001146171:exon9:c.G624A:p.K208K exonic;splicing ENSG00000203705;ENSG00000203705 ENST00000366973:exon9:c.601-1G>A,ENST00000526997:exon8:c.488-1G>A synonymous SNV ENSG00000203705:ENST00000527693:exon2:c.G36A:p.K12K,ENSG00000203705:ENST00000526641:exon8:c.G540A:p.K180K,ENSG00000203705:ENST00000366974:exon9:c.G603A:p.K201K,ENSG00000203705:ENST00000531963:exon9:c.G624A:p.K208K,ENSG00000203705:ENST00000532324:exon9:c.G624A:p.K208K Score=592;Name=lod=340 NA 1q32.3 NA NA NA NA rs78095001 0.02 0.02 0.016 0.0201677 0.0368 0.0119 0.0202 0.0008 0.0378 0.03 0.02 0.02 0.0041 0.0283 0.034 . . . . . . . . 1.000 D . . . . . . . . . 4.149 21.4 5.28 2.476 5.834 18.524 4.148633 4.148633 NA 0.033496 0.006815 NA 0.014 NA 11.5680706 503 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 503 4 78806415 78806415 C T exonic MRPL1 NA synonymous SNV MRPL1:NM_020236:exon4:c.C408T:p.N136N exonic ENSG00000169288 NA synonymous SNV ENSG00000169288:ENST00000315567:exon4:c.C408T:p.N136N Score=497;Name=lod=140 NA 4q21.1 NA NA NA NA rs74550505 0.01 0.01 0.01 0.0191693 0.0258 0.001 0.0259 0.0015 0.0501 0.03 0.0017 0.02 0.002 0.0322 0.041 . . . . . . . . 1.000 D . . . . -1.006 T 0.060 T . 0.07 4.379 3.43 1.155 2.838 7.861 0.069913 NA NA 0.041395 0.008171 NA 0.007 NA 11.5672716 504 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 505 7 25194665 25194665 G C exonic C7orf31 NA nonsynonymous SNV C7orf31:NM_138811:exon6:c.C560G:p.T187S exonic ENSG00000153790 NA nonsynonymous SNV ENSG00000153790:ENST00000283905:exon6:c.C560G:p.T187S,ENSG00000153790:ENST00000409280:exon6:c.C560G:p.T187S Score=289;Name=lod=20 NA 7p15.3 NA NA NA NA rs2523072 0.52 0.52 0.561 0.538339 0.6093 0.4206 0.5029 0.5855 0.5481 0.6 0.38 0.52 0.57 0.5624 0.61 0.77 T 0.994 D 0.922 D 0.005 N 0.695 P 1.725 L 2.87 T -1.083 T 0.000 T 0.222 2.481 14.26 5.36 2.523 2.267 14.589 2.48105 2.48105 0.59 0.607093 0.591239 NA 0.58 NA 11.5545404 505 6 29364615 29364615 G T exonic OR12D2 NA nonsynonymous SNV OR12D2:NM_013936:exon1:c.G139T:p.V47F exonic ENSG00000168787 NA nonsynonymous SNV ENSG00000168787:ENST00000383555:exon1:c.G139T:p.V47F NA NA 6p22.1 NA NA NA NA rs9257834 0.36 0.36 0.359 0.31889 0.4523 0.3641 0.3458 0.1921 0.2873 0.47 0.36 0.34 0.21 0.3857 0.47 0.01 D 0.991 D 0.873 P 0.000 D 0.997 P 2.885 M 3.91 T -1.112 T 0.019 T 0.284 1.402 10.62 3.19 0.897 -0.520 5.966 1.402237 1.402237 0.02 0.444998 0.221192 NA 0.29 NA 11.5503354 505 3 47459679 47459679 C T exonic SCAP NA nonsynonymous SNV SCAP:NM_012235:exon16:c.G2392A:p.V798I exonic ENSG00000114650 NA nonsynonymous SNV ENSG00000114650:ENST00000545718:exon11:c.G1216A:p.V406I,ENSG00000114650:ENST00000441517:exon13:c.G1627A:p.V543I,ENSG00000114650:ENST00000265565:exon16:c.G2392A:p.V798I Score=425;Name=lod=71 NA 3p21.31 NA Name=Pol2-4H8 NA NA rs12487736 0.48 0.48 0.491 0.452276 0.5905 0.4583 0.5245 0.233 0.5491 0.59 0.46 0.53 0.28 0.6294 0.59 1 T 0.008 B 0.007 B 0.000 D 0.018 P -0.755 N 2.2 T -0.903 T 0.000 T 0.082 -0.021 3.908 3.62 2.393 3.194 3.958 -0.020663 NA 1 0.568379 0.270929 NA 0.261 NA 11.5450544 506 16 15820863 15820863 C T exonic MYH11 NA nonsynonymous SNV MYH11:NM_002474:exon28:c.G3700A:p.A1234T,MYH11:NM_022844:exon28:c.G3700A:p.A1234T,MYH11:NM_001040113:exon29:c.G3721A:p.A1241T,MYH11:NM_001040114:exon29:c.G3721A:p.A1241T exonic ENSG00000133392 NA nonsynonymous SNV ENSG00000133392:ENST00000300036:exon28:c.G3700A:p.A1234T,ENSG00000133392:ENST00000338282:exon28:c.G3700A:p.A1234T,ENSG00000133392:ENST00000576790:exon28:c.G3700A:p.A1234T,ENSG00000133392:ENST00000396324:exon29:c.G3721A:p.A1241T,ENSG00000133392:ENST00000452625:exon29:c.G3721A:p.A1241T Score=541;Name=lod=210 NA 16p13.11 NA NA NA NA rs16967494 0.24 0.24 0.217 0.203874 0.2883 0.2728 0.2349 0.0575 0.2219 0.29 0.3 0.23 0.08 0.2457 0.3 0.01 D 0.053 B 0.025 B 0.000 D 0.021 P 0.28 N -1.15 T -1.088 T 0.000 T 0.065 1.365 10.49 4.68 2.311 0.783 12.121 1.365018 1.365018 0.39 0.261977 0.098771 NA 0.246 NA 11.5373564 507 11 56185327 56185327 T C exonic OR5R1 NA nonsynonymous SNV OR5R1:NM_001004744:exon1:c.A382G:p.S128G exonic ENSG00000174942 NA nonsynonymous SNV ENSG00000174942:ENST00000312253:exon1:c.A382G:p.S128G NA NA 11q12.1 Score=889;Name=V$TAL1BETAITF2_01 NA NA NA rs7933772 0.27 0.27 0.295 0.277756 0.2664 0.123 0.1816 0.5378 0.1656 0.27 0.14 0.17 0.51 0.2543 0.51 0.01 D 0.077 B 0.071 B 0.038 U 1.000 P 1.995 M 7.13 T -1.038 T 0.000 T 0.061 2.686 14.94 4.66 2.211 0.565 10.967 2.686423 2.686423 0.01 0.278696 0.500454 NA 0.283 NA 11.5339374 507 1 161751741 161751741 A G exonic ATF6 NA nonsynonymous SNV ATF6:NM_007348:exon3:c.A199G:p.M67V exonic ENSG00000118217 NA nonsynonymous SNV ENSG00000118217:ENST00000367942:exon3:c.A199G:p.M67V Score=523;Name=lod=178 NA 1q23.3 NA NA NA NA rs1058405 0.21 0.21 0.187 0.166933 0.2724 0.2629 0.17 0.0113 0.1677 0.27 0.3 0.2 0.02 0.236 0.3 0.31 T 0.049 B 0.039 B 0.000 D 0.046 P 1.67 L 2.55 T -1.043 T 0.014 T 0.322 1.019 9.163 3.83 2.023 2.129 8.448 1.019228 NA 0.58 0.291279 0.056741 NA 0.196 NA 11.5336544 507 2 43015704 43015704 T A exonic HAAO NA nonsynonymous SNV HAAO:NM_012205:exon2:c.A124T:p.T42S exonic ENSG00000162882 NA nonsynonymous SNV ENSG00000162882:ENST00000294973:exon2:c.A124T:p.T42S,ENSG00000162882:ENST00000431905:exon3:c.A22T:p.T8S Score=536;Name=lod=202 NA 2p21 Score=854;Name=V$MRF2_01 NA NA NA rs3816182 0.35 0.35 0.333 0.314696 0.2833 0.5794 0.2507 0.1838 0.2965 0.29 0.62 0.26 0.18 0.2845 0.62 0.81 T 0.001 B 0.002 B 0.659 N 0.999 P 0.755 N 1.59 T -0.955 T 0.000 T 0.284 0.456 6.474 4.34 2.065 1.565 9.314 0.455632 NA 0.74 0.23314 0.224921 NA 0.341 NA 11.5323934 507 21 44846016 44846016 C T exonic SIK1 NA nonsynonymous SNV SIK1:NM_173354:exon2:c.G43A:p.G15S exonic ENSG00000142178 NA nonsynonymous SNV ENSG00000142178:ENST00000270162:exon2:c.G43A:p.G15S NA NA 21q22.3 NA Name=Pol2(b),ZBTB7A_(SC-34508),CTCF,Pol2,HMGN3,EBF1_(C-8) Name=21 NA rs3746951 0.2 0.2 0.187 0.166534 0.2684 0.2153 0.2925 0.0129 0.1299 0.27 0.21 0.26 0.02 0.2813 0.27 0.74 T 0.007 B 0.001 B 0.087 N 1.000 P 0.55 N -0.52 T -1.082 T 0.000 T 0.046 1.063 9.34 2.39 1.506 1.484 5.022 1.062697 NA 0.2 0.257632 0.048358 NA 0.232 NA 11.5260014 508 17 3561396 3561396 C T exonic CTNS NA nonsynonymous SNV CTNS:NM_001031681:exon10:c.C779T:p.T260I,CTNS:NM_004937:exon10:c.C779T:p.T260I exonic ENSG00000040531 NA nonsynonymous SNV ENSG00000040531:ENST00000414524:exon7:c.C338T:p.T113I,ENSG00000040531:ENST00000441220:exon7:c.C455T:p.T152I,ENSG00000040531:ENST00000046640:exon10:c.C779T:p.T260I,ENSG00000040531:ENST00000381870:exon10:c.C779T:p.T260I Score=571;Name=lod=279 NA 17p13.2 Score=949;Name=V$MYCMAX_02 Name=Pol2 NA NA rs161400 0.84 0.84 0.803 0.818291 0.9414 0.9256 0.9179 0.5106 0.9264 0.95 0.94 0.92 0.5 0.9183 0.96 0.78 T 0.001 B 0.001 B 0.000 N 0.000 P -1.365 N -3.6 D -0.948 T 0.000 T 0.078 1.081 9.413 2.87 1.336 2.395 4.667 1.080957 NA 0.67 0.955581 0.59941 NA 0.768 NA 11.5180524 508 4 187516880 187516880 A G exonic FAT1 NA synonymous SNV FAT1:NM_005245:exon26:c.T13101C:p.S4367S exonic ENSG00000083857 NA synonymous SNV ENSG00000083857:ENST00000509927:exon1:c.T75C:p.S25S,ENSG00000083857:ENST00000441802:exon26:c.T13101C:p.S4367S Score=554;Name=lod=237 NA 4q35.2 Score=846;Name=V$CHOP_01 NA Name=2 NA rs1298865 0.53 0.53 0.519 0.491813 0.3698 0.5724 0.5317 0.7118 0.2086 0.38 0.62 0.53 0.66 0.4212 0.66 0 D . . . . 0.000 D 0.000 P . . . . -0.939 T 0.000 T . 1.39 10.58 -2.11 -0.690 -0.504 7.906 1.389809 1.389809 NA 0.360238 0.648349 NA 0.594 NA 11.5154286 509 17 38938591 38938591 C G exonic KRT27 NA nonsynonymous SNV KRT27:NM_181537:exon1:c.G155C:p.S52T exonic ENSG00000171446 NA nonsynonymous SNV ENSG00000171446:ENST00000301656:exon1:c.G155C:p.S52T Score=376;Name=lod=45 NA 17q21.2 NA NA NA NA rs2469826 0.31 0.31 0.284 0.308107 0.2773 0.2361 0.3977 0.3737 0.2618 0.27 0.27 0.37 0.39 0.2806 0.39 0.32 T 0.325 B 0.15 B 0.000 D 0.859 P 1.87 L -1.74 D -1.066 T 0.000 T 0.13 1.291 10.22 3.41 0.749 1.215 10.227 1.291162 1.291162 0.39 0.26093 0.361779 ID=COSM148267;OCCURENCE=1(stomach) 0.29 NA 11.5145034 509 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 510 16 16251599 16251599 C T exonic ABCC6 NA nonsynonymous SNV ABCC6:NM_001171:exon27:c.G3803A:p.R1268Q exonic ENSG00000091262 NA nonsynonymous SNV ENSG00000091262:ENST00000205557:exon27:c.G3803A:p.R1268Q Score=397;Name=lod=55 NA 16p13.11 Score=875;Name=V$STAT5A_01 NA NA NA rs2238472 0.19 0.19 0.167 0.18131 0.3012 0.125 0.2983 0.0673 0.1871 0.3 0.12 0.25 0.08 0.2446 0.3 0.35 T 0.106 B 0.007 B 0.018 N 0.000 P 0.54 N -2.69 D -1.113 T 0.000 T 0.182 1.734 11.76 2.01 0.191 -0.326 10.238 1.73406 1.73406 0.1 0.283372 0.107647 NA 0.152 CLINSIG=pathogenic|probable-non-pathogenic;CLNDBN=Pseudoxanthoma_elasticum|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000006948.1|RCV000132640.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1113:C0033847:264800:ORPHA758:252246005|. 11.5041614 510 17 71426656 71426656 G T exonic SDK2 NA nonsynonymous SNV SDK2:NM_001144952:exon12:c.C1577A:p.T526N exonic ENSG00000069188 NA nonsynonymous SNV ENSG00000069188:ENST00000388726:exon12:c.C1577A:p.T526N,ENSG00000069188:ENST00000392650:exon12:c.C1577A:p.T526N NA NA 17q25.1 NA Name=FOXA1_(C-20),FOXA1_(SC-101058),FOXA2_(SC-6554) Name=10 NA rs1105353 0.17 0.17 0.155 0.135383 0.2922 0.0704 0.1974 0.0431 0.1217 0.3 0.08 0.2 0.05 0.269 0.3 0.5 T 0.006 B 0.009 B 0.116 N 1.000 P 1.815 L -0.28 T -1.058 T 0.000 T 0.029 -0.44 1.954 3.89 1.887 2.817 6.844 -0.440461 NA 0.07 0.268837 0.083296 NA 0.094 NA 11.5032964 510 11 55433040 55433040 T C exonic OR4C6 NA nonsynonymous SNV OR4C6:NM_001004704:exon1:c.T398C:p.I133T exonic ENSG00000181903 NA nonsynonymous SNV ENSG00000181903:ENST00000314259:exon1:c.T398C:p.I133T Score=300;Name=lod=22 NA 11q11 NA NA NA NA rs11230600 0.28 0.28 0.259 0.252995 0.2843 0.3909 0.3242 0.1029 0.2311 0.29 0.37 0.35 0.1 0.2792 0.37 0.04 D 0.042 B 0.081 B 0.029 N 0.997 P 2 M 2.02 T -0.964 T 0.000 T 0.129 1.687 11.6 2.52 1.383 0.307 7.933 1.687192 1.687192 0.07 0.266643 0.128864 NA 0.225 NA 11.5031904 511 1 161696782 161696782 G C exonic FCRLB NA synonymous SNV FCRLB:NM_001002901:exon5:c.G864C:p.P288P exonic ENSG00000162746 NA nonsynonymous SNV ENSG00000162746:ENST00000367944:exon4:c.G739C:p.G247R,ENSG00000162746:ENST00000367945:exon4:c.G698C:p.R233P,ENSG00000162746:ENST00000336830:exon5:c.G760C:p.G254R,ENSG00000162746:ENST00000367946:exon5:c.G719C:p.R240P NA NA 1q23.3 Score=910;Name=V$PAX4_03 Name=NRSF,YY1,TBP,CCNT2,Egr-1,Pol2(b),CTCF,E2F6,HA-E2F1,Pol2,BCLAF1_(M33-P5B11),ETS1,HEY1,ELF1_(SC-631),Pol2-4H8,GABP,TAF1 Name=145 NA rs11585450 0.34 0.34 0.303 0.314497 0.5258 0.2629 0.3775 0.0552 0.456 0.51 0.31 0.42 0.06 0.49 0.51 0.23 T 0.337 B 0.086 B . . 0.000 P . . 4.37 T -1.036 T 0.002 T . 2.59 14.62 -6.55 -1.269 -2.565 14.880 2.590211 2.590211 0 0.489334 0.128493 NA 0.246 NA 11.494866 511 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=GR,ERalpha_a 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 511 6 116950833 116950833 T C exonic RSPH4A NA nonsynonymous SNV RSPH4A:NM_001010892:exon4:c.T1766C:p.L589P exonic ENSG00000111834 NA nonsynonymous SNV ENSG00000111834:ENST00000368580:exon3:c.T1025C:p.L342P,ENSG00000111834:ENST00000229554:exon4:c.T1766C:p.L589P Score=555;Name=lod=240 NA 6q22.1 Score=857;Name=V$ELK1_01 Name=PU.1 Name=4 NA rs784133 0.66 0.66 0.683 0.710064 0.6004 0.4921 0.6383 0.9675 0.7505 0.61 0.49 0.63 0.95 0.647 0.95 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.175 N 2.52 T -0.947 T 0.001 T 0.067 -0.709 0.943 4.96 0.838 3.305 10.807 -0.708895 NA 1 0.59314 0.905129 NA 0.696 NA 11.4927934 511 6 52701143 52701143 C T exonic GSTA5 NA nonsynonymous SNV GSTA5:NM_153699:exon4:c.G163A:p.V55I exonic ENSG00000182793 NA nonsynonymous SNV ENSG00000182793:ENST00000284562:exon4:c.G163A:p.V55I,ENSG00000182793:ENST00000370989:exon4:c.G163A:p.V55I Score=614;Name=lod=417 NA 6p12.2 NA NA NA NA rs2397118 0.91 0.91 0.909 0.888578 0.9473 0.8681 0.9654 0.854 0.8415 0.94 0.87 0.97 0.87 0.9306 0.97 0.04 D 0.32 B 0.295 B 0.000 D 0.039 P 2.485 M 2.94 T -1.125 T 0.024 T 0.045 2.89 15.63 2.63 1.456 4.168 10.674 2.890114 2.890114 0.02 0.96407 0.866546 NA 0.913 NA 11.4913634 511 19 9048170 9048170 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon5:c.C33461T:p.S11154F exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon5:c.C33461T:p.S11154F NA NA 19p13.2 NA NA NA NA rs10417600 0.19 0.19 0.181 0.189297 0.2813 0.0258 0.1988 0.1982 0.2444 0.28 0.02 0.21 0.21 0.2585 0.3 0 D 0.999 D 0.991 D . . . . 1.735 L 4.18 T -0.900 T 0.000 T 0.146 0.527 6.853 2.39 0.994 0.463 6.589 0.526597 NA 0 0.3023 0.196176 NA 0.268 NA 11.4912334 511 21 45528919 45528919 G A exonic PWP2 NA nonsynonymous SNV PWP2:NM_005049:exon2:c.G73A:p.D25N exonic ENSG00000241945 NA nonsynonymous SNV ENSG00000241945:ENST00000291576:exon2:c.G73A:p.D25N,ENSG00000241945:ENST00000456705:exon2:c.G73A:p.D25N Score=376;Name=lod=45 NA 21q22.3 Score=852;Name=V$OCT1_07 NA NA NA rs2020945 0.64 0.64 0.612 0.572085 0.8201 0.6994 0.6729 0.2466 0.5542 0.81 0.7 0.7 0.26 0.7156 0.81 0.12 T 0.696 P 0.059 B 0.000 D 0.001 P 1.385 L 1.06 T -1.010 T 0.000 T 0.082 3.789 19.24 3.87 1.135 7.217 13.315 3.788775 3.788775 0.06 0.807907 0.323423 NA 0.601 NA 11.4897264 511 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 511 14 73717720 73717720 G A exonic PAPLN NA nonsynonymous SNV PAPLN:NM_173462:exon7:c.G571A:p.A191T exonic ENSG00000100767 NA nonsynonymous SNV ENSG00000100767:ENST00000554301:exon6:c.G571A:p.A191T,ENSG00000100767:ENST00000555445:exon6:c.G571A:p.A191T,ENSG00000100767:ENST00000216658:exon7:c.G571A:p.A191T,ENSG00000100767:ENST00000340738:exon7:c.G571A:p.A191T,ENSG00000100767:ENST00000381166:exon7:c.G571A:p.A191T,ENSG00000100767:ENST00000427855:exon7:c.G571A:p.A191T,ENSG00000100767:ENST00000555123:exon7:c.G571A:p.A191T Score=456;Name=lod=95 NA 14q24.2 NA NA NA NA rs741842 0.07 0.07 0.061 0.04373 0.1183 0.0079 0.0533 0.0174 0.0327 0.14 0.01 0.06 0.01 0.0941 0.14 0.69 T 0.774 P 0.322 B . . 1.000 N -0.2 N 0.71 T -1.184 T 0.001 T 0.28 2.34 13.78 4.33 2.398 3.369 14.051 2.340269 2.340269 0.1 0.135698 0.033364 NA 0.022 NA 11.4852354 512 9 73150918 73150918 C T exonic TRPM3 NA nonsynonymous SNV TRPM3:NM_206944:exon24:c.G4586A:p.R1529K,TRPM3:NM_001007471:exon25:c.G5075A:p.R1692K,TRPM3:NM_020952:exon25:c.G4616A:p.R1539K,TRPM3:NM_206945:exon25:c.G4622A:p.R1541K,TRPM3:NM_206947:exon25:c.G4661A:p.R1554K,TRPM3:NM_024971:exon26:c.G4652A:p.R1551K,TRPM3:NM_206946:exon26:c.G4691A:p.R1564K exonic ENSG00000083067 NA nonsynonymous SNV ENSG00000083067:ENST00000358082:exon23:c.G4661A:p.R1554K,ENSG00000083067:ENST00000396280:exon23:c.G4622A:p.R1541K,ENSG00000083067:ENST00000396285:exon23:c.G4652A:p.R1551K,ENSG00000083067:ENST00000396292:exon24:c.G4691A:p.R1564K,ENSG00000083067:ENST00000408909:exon24:c.G4652A:p.R1551K,ENSG00000083067:ENST00000357533:exon25:c.G5087A:p.R1696K,ENSG00000083067:ENST00000360823:exon25:c.G4661A:p.R1554K,ENSG00000083067:ENST00000377110:exon25:c.G5075A:p.R1692K,ENSG00000083067:ENST00000377105:exon26:c.G4652A:p.R1551K,ENSG00000083067:ENST00000377106:exon26:c.G4691A:p.R1564K,ENSG00000083067:ENST00000423814:exon26:c.G5156A:p.R1719K Score=553;Name=lod=236 NA 9q21.12 NA NA NA NA rs41287373 0.21 0.21 0.186 0.207668 0.2803 0.1766 0.3228 0.0681 0.272 0.27 0.17 0.35 0.06 0.2663 0.35 0.38 T 0.001 B 0.002 B 0.000 D 0.000 P 0.205 N 0.74 T -0.971 T 0.000 T 0.136 2.202 13.32 5.57 2.619 5.745 19.540 2.202198 2.202198 0.15 0.301977 0.09941 NA 0.225 NA 11.4847564 512 2 170175334 170175334 T C exonic LRP2 NA nonsynonymous SNV LRP2:NM_004525:exon3:c.A248G:p.N83S exonic ENSG00000081479 NA nonsynonymous SNV ENSG00000081479:ENST00000263816:exon3:c.A248G:p.N83S,ENSG00000081479:ENST00000443831:exon3:c.A248G:p.N83S NA NA 2q31.1 Score=692;Name=V$BRACH_01 NA NA NA rs2229263 0.31 0.31 0.335 0.30631 0.2783 0.2758 0.2118 0.4818 0.1963 0.27 0.25 0.23 0.49 0.2783 0.49 . . 0.003 B 0.005 B 0.022 N 1.000 P -0.295 N -3.67 D -0.987 T 0.000 T 0.018 0.331 5.794 -6.27 -1.027 -0.760 2.145 0.330732 NA 0.81 0.293488 0.434635 NA 0.348 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117519.2;CLNDSDB=.;CLNDSDBID=. 11.4832454 512 8 67592152 67592152 T C exonic C8orf44 NA nonsynonymous SNV C8orf44:NM_019607:exon3:c.T443C:p.F148S exonic ENSG00000213865 NA nonsynonymous SNV ENSG00000213865:ENST00000519561:exon3:c.T443C:p.F148S,ENSG00000213865:ENST00000390159:exon4:c.T443C:p.F148S NA NA 8q13.1 NA Name=c-Fos,CEBPB,eGFP-FOS,JunD,MafK_(ab50322),eGFP-JunB,c-Jun Name=111 NA rs1057463 0.21 0.21 0.189 0.21845 0.2922 0.2401 0.2291 0.0514 0.3384 0.3 0.23 0.23 0.05 0.2655 0.3 0.48 T 0.713 P 0.522 P . . 1.000 P 0 N 1.12 T -0.998 T 0.000 T 0.27 2.602 14.66 2.84 0.893 1.327 6.239 2.60237 2.60237 0.43 0.294884 0.091466 NA 0.297 NA 11.4807494 512 5 148206473 148206473 G C exonic ADRB2 NA nonsynonymous SNV ADRB2:NM_000024:exon1:c.G79C:p.E27Q exonic ENSG00000169252 NA nonsynonymous SNV ENSG00000169252:ENST00000305988:exon1:c.G79C:p.E27Q NA NA 5q32 Score=791;Name=V$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 512 15 90800449 90800449 C T exonic TTLL13 NA nonsynonymous SNV TTLL13:NM_001029964:exon7:c.C785T:p.T262I exonic ENSG00000213471,ENSG00000261147 NA nonsynonymous SNV ENSG00000261147:ENST00000561573:exon5:c.C497T:p.T166I,ENSG00000213471:ENST00000339615:exon7:c.C785T:p.T262I,ENSG00000213471:ENST00000438251:exon7:c.C785T:p.T262I Score=592;Name=lod=339 NA 15q26.1 NA NA NA NA rs2063743 0.35 0.35 0.316 0.377196 0.2644 0.6925 0.4193 0.1074 0.5031 0.26 0.65 0.36 0.12 0.3303 0.65 0.05 D 0.001 B 0.009 B 0.001 N 1.000 P -1.695 N 3.57 T -1.030 T 0.000 T 0.086 2.55 14.49 5.89 1.059 5.862 11.418 2.550254 2.550254 0.09 0.26047 0.147112 NA 0.174 NA 11.4781634 513 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 513 19 9076728 9076728 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.G10718A:p.R3573H exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G10718A:p.R3573H NA NA 19p13.2 NA Name=Max,NRSF Name=4 NA rs2591594 0.25 0.25 0.24 0.248203 0.3121 0.249 0.2118 0.2005 0.272 0.31 0.21 0.24 0.22 0.2629 0.31 0 D 0.0 B 0.0 B . . . . 0 N 4.11 T -0.915 T 0.000 T 0.048 -0.638 1.183 -2.79 -1.341 -0.053 7.792 -0.637672 NA 0.18 0.288097 0.210974 NA 0.254 NA 11.4702364 513 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 513 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=CCNT2,TAL1_(SC-12984),KAP1,GATA-2,GATA2_(CG2-96),CTCF 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 513 17 39580739 39580739 C A exonic KRT37 NA nonsynonymous SNV KRT37:NM_003770:exon1:c.G37T:p.G13C exonic ENSG00000108417 NA nonsynonymous SNV ENSG00000108417:ENST00000225550:exon1:c.G37T:p.G13C NA NA 17q21.2 NA NA NA NA rs9910204 0.2 0.2 0.176 0.21905 0.2833 0.0843 0.2147 0.1505 0.3875 0.27 0.09 0.27 0.17 0.2764 0.31 0.15 T 0.975 D 0.423 B 0.026 N 1.000 P 0.695 N -1.75 D -1.119 T 0.000 T 0.209 2.062 12.85 4.0 1.955 1.771 12.269 2.061581 2.061581 0.59 0.308372 0.167272 ID=COSM436577;OCCURENCE=1(breast) 0.239 NA 11.4652614 514 17 66985992 66985992 T G exonic ABCA9 NA nonsynonymous SNV ABCA9:NM_080283:exon30:c.A3917C:p.K1306T exonic ENSG00000154258 NA nonsynonymous SNV ENSG00000154258:ENST00000453985:exon29:c.A3803C:p.K1268T,ENSG00000154258:ENST00000340001:exon30:c.A3917C:p.K1306T,ENSG00000154258:ENST00000370732:exon30:c.A3917C:p.K1306T Score=488;Name=lod=128 NA 17q24.2 NA NA NA NA rs2302294 0.43 0.43 0.384 0.413339 0.6541 0.3423 0.5476 0.0855 0.5869 0.66 0.33 0.53 0.11 0.5729 0.66 0.01 D 1.0 D 0.995 D 0.011 N 0.000 P 1.235 L 2.54 T -1.032 T 0.000 T 0.465 3.747 19.03 3.89 0.723 4.459 11.061 3.74704 3.74704 0.01 0.642442 0.173173 NA 0.413 NA 11.4638914 514 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 514 15 90796558 90796558 G A exonic TTLL13 NA nonsynonymous SNV TTLL13:NM_001029964:exon4:c.G376A:p.A126T exonic ENSG00000213471,ENSG00000261147 NA nonsynonymous SNV ENSG00000213471:ENST00000339615:exon4:c.G376A:p.A126T,ENSG00000213471:ENST00000438251:exon4:c.G376A:p.A126T,ENSG00000261147:ENST00000561573:exon4:c.G376A:p.A126T Score=426;Name=lod=72 NA 15q26.1 Score=850;Name=V$GRE_C NA NA NA rs12912620 0.36 0.36 0.33 0.395966 0.2654 0.6885 0.4265 0.1838 0.4939 0.26 0.64 0.38 0.18 0.3438 0.64 0.49 T 0.075 B 0.024 B 0.000 D 0.993 P 1.04 L 3.82 T -1.063 T 0.000 T 0.043 2.617 14.71 3.08 0.352 2.384 8.105 2.616673 2.616673 0.34 0.261052 0.191905 ID=COSM1599989;OCCURENCE=1(central_nervous_system) 0.203 NA 11.4630814 514 21 47423389 47423389 G A exonic COL6A1 NA nonsynonymous SNV COL6A1:NM_001848:exon35:c.G2549A:p.R850H exonic ENSG00000142156 NA nonsynonymous SNV ENSG00000142156:ENST00000361866:exon35:c.G2549A:p.R850H Score=524;Name=lod=179 NA 21q22.3 Score=835;Name=V$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 514 15 42168400 42168400 C T exonic SPTBN5 NA nonsynonymous SNV SPTBN5:NM_016642:exon21:c.G4034A:p.R1345H exonic ENSG00000137877 NA nonsynonymous SNV ENSG00000137877:ENST00000320955:exon21:c.G4034A:p.R1345H NA NA 15q15.1 NA NA Name=3 NA rs2290559 0.16 0.16 0.154 0.156949 0.3121 0.0476 0.1888 0.0461 0.2372 0.3 0.03 0.19 0.05 0.2487 0.31 0.01 D 0.948 P 0.493 P 0.428 N 1.000 P 0 N 0.77 T -0.986 T 0.000 T 0.101 3.301 17.09 3.0 0.562 4.573 14.227 3.300924 3.300924 0.14 0.309864 0.088345 NA 0.203 NA 11.4626694 514 19 44470420 44470420 T C exonic ZNF221 NA nonsynonymous SNV ZNF221:NM_013359:exon6:c.T766C:p.C256R exonic ENSG00000159905 NA nonsynonymous SNV ENSG00000159905:ENST00000587682:exon5:c.T766C:p.C256R,ENSG00000159905:ENST00000251269:exon6:c.T766C:p.C256R,ENSG00000159905:ENST00000592350:exon6:c.T766C:p.C256R NA NA 19q13.31 NA Name=SETDB1,KAP1 Name=9 NA rs439676 0.88 0.88 0.871 0.845048 0.9702 0.9841 0.9438 0.5454 0.908 0.96 0.98 0.93 0.59 0.9331 0.98 0.02 D 1.0 D 1.0 D . . 1.000 P 3.71 H -1.96 D -0.919 T 0.000 T 0.085 3.139 16.49 -0.025 -0.252 0.517 8.421 3.139189 3.139189 0.04 0.969419 0.620517 NA 0.855 NA 11.4606144 514 2 177016728 177016728 T C exonic HOXD4 NA nonsynonymous SNV HOXD4:NM_014621:exon1:c.T367C:p.S123P exonic ENSG00000170166 NA nonsynonymous SNV ENSG00000170166:ENST00000306324:exon1:c.T367C:p.S123P Score=583;Name=lod=312 NA 2q31.1 Score=822;Name=V$CMYB_01 NA Name=2 NA rs34727427 0.23 0.23 0.244 0.236422 0.3082 0.0228 0.1916 0.4054 0.1861 0.3 0.01 0.22 0.4 0.2642 0.4 0.56 T 0.0 B 0.0 B 0.195 N 0.000 P 0.145 N -2.85 D -1.067 T 0.000 T 0.016 0.492 6.67 2.91 0.784 0.663 8.922 0.492176 NA 0.21 0.302135 0.341733 NA 0.138 NA 11.4587984 514 19 7831628 7831628 G A exonic CLEC4M NA nonsynonymous SNV CLEC4M:NM_001144906:exon4:c.G463A:p.D155N,CLEC4M:NM_001144907:exon4:c.G670A:p.D224N,CLEC4M:NM_001144911:exon4:c.G787A:p.D263N,CLEC4M:NM_001144904:exon5:c.G718A:p.D240N,CLEC4M:NM_001144908:exon5:c.G595A:p.D199N,CLEC4M:NM_014257:exon5:c.G871A:p.D291N,CLEC4M:NM_001144905:exon6:c.G799A:p.D267N,CLEC4M:NM_001144909:exon6:c.G733A:p.D245N,CLEC4M:NM_001144910:exon6:c.G802A:p.D268N exonic ENSG00000104938 NA nonsynonymous SNV ENSG00000104938:ENST00000595496:exon4:c.G463A:p.D155N,ENSG00000104938:ENST00000595751:exon4:c.G787A:p.D263N,ENSG00000104938:ENST00000596363:exon4:c.G787A:p.D263N,ENSG00000104938:ENST00000596707:exon4:c.G670A:p.D224N,ENSG00000104938:ENST00000327325:exon5:c.G871A:p.D291N,ENSG00000104938:ENST00000334806:exon5:c.G718A:p.D240N,ENSG00000104938:ENST00000357361:exon5:c.G871A:p.D291N,ENSG00000104938:ENST00000359059:exon5:c.G670A:p.D224N,ENSG00000104938:ENST00000597522:exon5:c.G595A:p.D199N,ENSG00000104938:ENST00000248228:exon6:c.G805A:p.D269N,ENSG00000104938:ENST00000394122:exon7:c.G835A:p.D279N NA NA 19p13.2 Score=868;Name=V$CREB_Q4 NA NA NA rs2277998 0.2 0.2 0.175 0.177117 0.2962 0.1389 0.3573 0.0113 0.1902 0.3 0.15 0.3 0.02 0.2651 0.31 0.16 T 0.1 B 0.027 B . . 1.000 P 2.07 M 2.1 T -1.013 T 0.000 T 0.041 -0.14 3.314 -5.14 -3.295 -2.143 1.876 -0.140125 NA 0.11 0.314419 0.068543 ID=COSM1631161;OCCURENCE=1(liver) 0.21 NA 11.4576144 514 4 151207127 151207127 C T exonic LRBA NA nonsynonymous SNV LRBA:NM_001199282:exon54:c.G8074A:p.A2692T,LRBA:NM_006726:exon55:c.G8110A:p.A2704T exonic ENSG00000198589 NA nonsynonymous SNV ENSG00000198589:ENST00000510413:exon54:c.G8074A:p.A2692T,ENSG00000198589:ENST00000535741:exon54:c.G8077A:p.A2693T,ENSG00000198589:ENST00000357115:exon55:c.G8110A:p.A2704T NA NA 4q31.3 Score=874;Name=V$MYCMAX_02 NA NA NA rs3749574 0.21 0.21 0.187 0.162141 0.3022 0.2371 0.1556 0.0363 0.1155 0.3 0.26 0.2 0.03 0.2773 0.3 0.18 T 0.001 B 0.005 B 0.000 D 0.000 P 0.49 N 0.89 T -1.056 T 0.000 T 0.422 1.221 9.955 4.83 2.717 1.932 9.317 1.221347 NA 1 0.296977 0.07921 NA 0.268 NA 11.4568564 514 1 207646462 207646462 G A exonic CR2 NA nonsynonymous SNV CR2:NM_001006658:exon10:c.G1916A:p.S639N,CR2:NM_001877:exon10:c.G1916A:p.S639N exonic ENSG00000117322 NA nonsynonymous SNV ENSG00000117322:ENST00000367057:exon10:c.G1916A:p.S639N,ENSG00000117322:ENST00000367058:exon10:c.G1916A:p.S639N,ENSG00000117322:ENST00000367059:exon10:c.G1916A:p.S639N,ENSG00000117322:ENST00000458541:exon10:c.G1835A:p.S612N Score=410;Name=lod=62 NA 1q32.2 NA NA NA NA rs17615 0.27 0.27 0.283 0.258387 0.2913 0.1071 0.2017 0.4251 0.1953 0.3 0.11 0.25 0.42 0.2704 0.42 0.15 T 1.0 D 0.996 D . . 0.166 P 1.66 L -0.22 T -0.966 T 0.000 T 0.124 3.772 19.15 4.8 2.723 0.504 11.288 3.772477 3.772477 0.04 0.315581 0.379936 NA 0.297 NA 11.4560524 515 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 515 13 99064244 99064244 T C exonic FARP1 NA synonymous SNV FARP1:NM_005766:exon16:c.T1782C:p.F594F exonic ENSG00000152767 NA synonymous SNV ENSG00000152767:ENST00000319562:exon16:c.T1782C:p.F594F,ENSG00000152767:ENST00000376586:exon16:c.T1782C:p.F594F,ENSG00000152767:ENST00000595437:exon16:c.T1782C:p.F594F Score=521;Name=lod=175 NA 13q32.2 NA NA Name=23 NA rs11556829 0.04 0.04 0.027 0.0289537 0.0785 0.001 0.0259 0.0038 0.0429 0.09 0.0017 0.03 0.002 0.0614 0.09 0 D . . . . 0.000 D 1.000 D . . . . -0.925 T 0.019 T . 1.434 10.73 -0.59 -0.299 0.186 10.506 1.433796 1.433796 NA 0.077442 0.019746 NA NA NA 11.4493246 515 5 176916516 176916516 C T exonic PDLIM7 NA synonymous SNV PDLIM7:NM_005451:exon9:c.G747A:p.P249P,PDLIM7:NM_203352:exon9:c.G645A:p.P215P exonic ENSG00000196923 NA nonsynonymous SNV ENSG00000196923:ENST00000356618:exon8:c.G685A:p.G229S,ENSG00000196923:ENST00000393551:exon8:c.G685A:p.G229S Score=538;Name=lod=204 NA 5q35.3 Score=774;Name=V$PAX5_02 Name=CTCF,Pol2-4H8 Name=21 NA rs335462 0.44 0.44 0.437 0.4375 0.5278 0.3889 0.3761 0.3918 0.5 0.55 0.35 0.42 0.4 0.5012 0.55 0.33 T 0.003 B 0.01 B . . 0.000 P . . 2.47 T -0.938 T 0.000 T . 3.56 18.15 -10.5 -1.901 -5.689 3.114 3.560441 3.560441 0 0.524098 0.381202 ID=COSM449400;OCCURENCE=1(breast) 0.572 NA 11.446902 516 2 152536498 152536498 T A exonic NEB NA nonsynonymous SNV NEB:NM_001164507:exon31:c.A3081T:p.K1027N,NEB:NM_001164508:exon31:c.A3081T:p.K1027N,NEB:NM_001271208:exon31:c.A3081T:p.K1027N,NEB:NM_004543:exon31:c.A3081T:p.K1027N exonic ENSG00000183091 NA nonsynonymous SNV ENSG00000183091:ENST00000603639:exon29:c.A3081T:p.K1027N,ENSG00000183091:ENST00000604864:exon29:c.A3081T:p.K1027N,ENSG00000183091:ENST00000172853:exon31:c.A3081T:p.K1027N,ENSG00000183091:ENST00000397345:exon31:c.A3081T:p.K1027N,ENSG00000183091:ENST00000409198:exon31:c.A3081T:p.K1027N,ENSG00000183091:ENST00000427231:exon31:c.A3081T:p.K1027N Score=358;Name=lod=38 NA 2q23.3 Score=740;Name=V$PAX4_04 Name=Egr-1 NA NA rs6735208 0.62 0.62 0.589 0.583466 0.8121 0.4563 0.8703 0.3268 0.6227 0.82 0.47 0.83 0.33 0.7499 0.83 0.58 T 0.982 D 0.855 P 0.000 D 0.000 P 1.445 L 3.25 T -1.010 T 0.000 T 0.207 3.451 17.68 -1.62 -0.203 -0.418 10.153 3.450587 3.450587 0.22 0.826513 0.42703 NA 0.703 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081134.3;CLNDSDB=.;CLNDSDBID=. 11.4448204 516 5 55206444 55206444 G A exonic IL31RA NA nonsynonymous SNV IL31RA:NM_001242636:exon12:c.G1529A:p.S510N,IL31RA:NM_001242637:exon12:c.G1586A:p.S529N,IL31RA:NM_139017:exon12:c.G1586A:p.S529N,IL31RA:NM_001242639:exon13:c.G1160A:p.S387N,IL31RA:NM_001242638:exon14:c.G1529A:p.S510N exonic ENSG00000164509 NA nonsynonymous SNV ENSG00000164509:ENST00000354961:exon12:c.G1529A:p.S510N,ENSG00000164509:ENST00000359040:exon12:c.G1586A:p.S529N,ENSG00000164509:ENST00000447346:exon12:c.G1586A:p.S529N,ENSG00000164509:ENST00000490985:exon13:c.G1160A:p.S387N,ENSG00000164509:ENST00000396834:exon14:c.G1529A:p.S510N Score=426;Name=lod=72 NA 5q11.2 Score=890;Name=V$CP2_01 NA NA NA rs161704 0.31 0.31 0.344 0.309904 0.2962 0.3254 0.2176 0.3321 0.3436 0.31 0.36 0.23 0.3 0.3014 0.36 0.34 T 0.17 B 0.068 B 0.007 N 0.000 P 2.18 M 0.41 T -0.993 T 0.000 T 0.111 -0.027 3.877 3.33 1.521 0.168 6.205 -0.026766 NA 0.52 0.291047 0.342941 NA 0.268 NA 11.4446864 516 X 136113464 136113464 C A exonic GPR101 NA nonsynonymous SNV GPR101:NM_054021:exon1:c.G370T:p.V124L exonic ENSG00000165370 NA nonsynonymous SNV ENSG00000165370:ENST00000298110:exon1:c.G370T:p.V124L Score=374;Name=lod=44 NA Xq26.3 NA NA NA NA rs1190736 0.3 0.3 0.34102 NA NA NA NA NA NA 0.49 0.34 0.24 0.02 0.3799 0.51 0.25 T 0.898 P 0.674 P 0.009 N 0.002 P 1.155 L 1.71 T -0.875 T 0.000 T 0.391 1.946 12.46 4.14 2.081 2.797 12.334 1.945593 1.945593 0.17 0.509364 0.076662 NA 0.159 NA 11.4440694 516 17 59557600 59557600 C T exonic TBX4 NA nonsynonymous SNV TBX4:NM_018488:exon7:c.C941T:p.A314V exonic ENSG00000121075 NA nonsynonymous SNV ENSG00000121075:ENST00000240335:exon7:c.C941T:p.A314V,ENSG00000121075:ENST00000393853:exon8:c.C941T:p.A314V NA NA 17q23.2 NA NA NA NA rs3744438 0.17 0.17 0.196 0.213259 0.1213 0.1111 0.134 0.4402 0.1626 0.1 0.11 0.12 0.39 0.1454 0.41 . . 0.871 P 0.198 B 0.011 N 0.999 P 1.1 L -1.5 D -1.014 T 0.000 T 0.08 2.497 14.31 5.84 2.779 4.496 19.126 2.496648 2.496648 0.08 0.124419 0.413527 NA 0.21 NA 11.4422144 516 19 49438363 49438363 G A exonic DHDH NA nonsynonymous SNV DHDH:NM_014475:exon2:c.G197A:p.S66N exonic ENSG00000104808 NA nonsynonymous SNV ENSG00000104808:ENST00000221403:exon2:c.G197A:p.S66N,ENSG00000104808:ENST00000520557:exon2:c.G161A:p.S54N,ENSG00000104808:ENST00000522614:exon2:c.G197A:p.S66N,ENSG00000104808:ENST00000523250:exon2:c.G197A:p.S66N NA NA 19q13.33 NA Name=CTCF_(SC-5916),CTCF,Rad21 Name=7 NA rs2270941 0.47 0.47 0.496 0.511382 0.2535 0.5456 0.4308 0.7958 0.4141 0.27 0.53 0.39 0.75 0.4264 0.75 1 T 0.0 B 0.001 B 0.001 N 1.000 P -1.09 N 2.01 T -0.968 T 0.000 T 0.021 0.922 8.755 4.74 0.951 4.951 8.936 0.922187 NA 0.71 0.214635 0.701503 ID=COSM439936;OCCURENCE=1(breast) 0.435 NA 11.4387984 516 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 517 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,NRSF,TAF1,Pol2-4H8,HEY1,GATA-1,Pol2,POU2F2 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 517 10 76867899 76867899 T C exonic DUSP13 NA nonsynonymous SNV DUSP13:NM_001007271:exon2:c.A218G:p.K73R exonic ENSG00000079393 NA nonsynonymous SNV ENSG00000079393:ENST00000372702:exon2:c.A218G:p.K73R,ENSG00000079393:ENST00000479884:exon2:c.A218G:p.K73R Score=449;Name=lod=89 NA 10q22.2 NA NA NA NA rs7912300 0.45 0.45 0.408 0.453474 0.2823 0.6438 0.4452 0.5348 0.3292 0.3 0.63 0.37 0.52 0.351 0.63 0.14 T 0.003 B 0.005 B . . 0.000 P -0.075 N -2.01 D -0.912 T 0.000 T 0.069 4.482 24 4.93 1.312 5.371 12.549 4.482367 4.482367 NA 0.265554 0.486426 NA 0.478 NA 11.4344794 517 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 517 2 202252539 202252539 G A exonic TRAK2 NA nonsynonymous SNV TRAK2:NM_015049:exon13:c.C1583T:p.T528I exonic ENSG00000115993 NA nonsynonymous SNV ENSG00000115993:ENST00000332624:exon13:c.C1583T:p.T528I NA NA 2q33.1 NA NA NA NA rs2244438 0.29 0.29 0.253 0.239018 0.3141 0.2431 0.3905 0.2095 0.09 0.31 0.25 0.4 0.23 0.2836 0.4 0.01 D 0.082 B 0.03 B 0.110 N 0.411 P 2.045 M 0.9 T -0.992 T 0.000 T 0.055 0.861 8.488 4.07 1.334 1.979 10.478 0.861341 NA 0.01 0.304302 0.233091 NA 0.275 NA 11.4313314 517 12 48142636 48142636 C T exonic RAPGEF3 NA nonsynonymous SNV RAPGEF3:NM_001098532:exon10:c.G994A:p.G332S,RAPGEF3:NM_001098531:exon11:c.G1120A:p.G374S,RAPGEF3:NM_006105:exon11:c.G994A:p.G332S exonic ENSG00000079337 NA nonsynonymous SNV ENSG00000079337:ENST00000171000:exon11:c.G994A:p.G332S,ENSG00000079337:ENST00000395358:exon11:c.G1120A:p.G374S,ENSG00000079337:ENST00000405493:exon11:c.G994A:p.G332S,ENSG00000079337:ENST00000449771:exon11:c.G1120A:p.G374S,ENSG00000079337:ENST00000548919:exon11:c.G994A:p.G332S,ENSG00000079337:ENST00000549151:exon11:c.G994A:p.G332S,ENSG00000079337:ENST00000389212:exon12:c.G1120A:p.G374S NA NA 12q13.11 Score=801;Name=V$PAX4_01 NA NA NA rs12422983 0.1 0.1 0.102 0.0902556 0.1451 0.0298 0.1354 0.0998 0.0511 0.13 0.03 0.15 0.11 0.1172 0.15 0.19 T 0.993 D 0.709 P 0.698 N 1.000 P 0.55 N -0.26 T -1.061 T 0.002 T 0.191 1.021 9.169 3.3 1.349 0.404 5.771 1.020728 NA 0.03 0.145698 0.110758 NA 0.087 NA 11.4253354 518 6 44310854 44310854 G A exonic SPATS1 NA nonsynonymous SNV SPATS1:NM_145026:exon2:c.G22A:p.G8R exonic ENSG00000249481 NA nonsynonymous SNV ENSG00000249481:ENST00000288390:exon1:c.G22A:p.G8R,ENSG00000249481:ENST00000506468:exon1:c.G22A:p.G8R,ENSG00000249481:ENST00000323108:exon2:c.G22A:p.G8R,ENSG00000249481:ENST00000515220:exon2:c.G22A:p.G8R NA NA 6p21.1 NA NA NA NA rs10948132 0.37 0.37 0.313 0.354633 0.3022 0.6151 0.5058 0.0983 0.3793 0.32 0.61 0.47 0.09 0.3346 0.61 0 D 1.0 D 0.999 D 0.064 N 1.000 P 1.79 L 0.52 T -0.766 T 0.181 T 0.353 2.467 14.21 2.55 0.998 0.755 8.293 2.466907 2.466907 NA 0.281047 0.131412 NA 0.268 NA 11.4154864 519 3 44611896 44611896 A G exonic ZKSCAN7 NA nonsynonymous SNV ZKSCAN7:NM_018651:exon6:c.A1294G:p.T432A exonic ENSG00000196345 NA nonsynonymous SNV ENSG00000196345:ENST00000447279:exon5:c.A841G:p.T281A,ENSG00000196345:ENST00000273320:exon6:c.A1294G:p.T432A,ENSG00000196345:ENST00000426540:exon6:c.A1294G:p.T432A Score=321;Name=lod=27 NA 3p21.31 NA NA NA NA rs9835485 0.24 0.24 0.224 0.220048 0.335 0.001 0.1758 0.441 0.0603 0.31 0.0017 0.19 0.43 0.2616 0.43 0.02 D 0.074 B 0.043 B 0.075 N 0.000 P 1.165 L 5.49 T -0.922 T 0.000 T 0.077 1.384 10.56 3.04 1.782 1.749 7.228 1.383923 1.383923 0.14 0.321935 0.407357 ID=COSM1423245;OCCURENCE=1(large_intestine) 0.239 NA 11.4147984 520 11 46898771 46898771 T C exonic LRP4 NA nonsynonymous SNV LRP4:NM_002334:exon23:c.A3256G:p.I1086V exonic ENSG00000134569 NA nonsynonymous SNV ENSG00000134569:ENST00000378623:exon23:c.A3256G:p.I1086V Score=598;Name=lod=358 NA 11p11.2 Score=789;Name=V$CDPCR3_01 NA NA NA rs6485702 0.43 0.43 0.427 0.445887 0.6769 0.2927 0.572 0.1256 0.7096 0.66 0.31 0.53 0.13 0.5849 0.67 0.46 T 0.0 B 0.002 B 0.000 N 0.002 P 0 N -2.76 D -0.910 T 0.000 T 0.085 0.174 4.937 3.91 1.165 2.139 8.304 0.174078 NA 0.93 0.666783 0.221945 ID=COSM147182;OCCURENCE=1(stomach) 0.551 NA 11.4047504 520 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 520 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 520 1 169519049 169519049 T C exonic F5 NA nonsynonymous SNV F5:NM_000130:exon10:c.A1601G:p.Q534R exonic ENSG00000198734 NA nonsynonymous SNV ENSG00000198734:ENST00000367796:exon10:c.A1601G:p.Q534R,ENSG00000198734:ENST00000367797:exon10:c.A1601G:p.Q534R Score=432;Name=lod=76 NA 1q24.2 NA NA NA NA rs6025 0.99 0.99 0.994 0.99401 0.9881 1 0.9899 1 0.9888 0.99 1 0.99 1 0.9785 1 1 T . . . . 0.005 N 0.000 P . . -5.01 D -0.025 T 0.660 D 0.157 0.071 4.386 5.71 1.434 2.021 9.600 0.071163 NA 1 0.969884 0.995688 NA 1 CLINSIG=pathogenic|untested|other|other;CLNDBN=Thrombophilia_due_to_factor_V_Leiden|Ischemic_stroke\x2c_susceptibility_to|Budd-Chiari_syndrome\x2c_susceptibility_to|Recurrent_abortion;CLNREVSTAT=single|not|single|single;CLNACC=RCV000000674.1|RCV000000675.1|RCV000000676.1|RCV000023935.1;CLNDSDB=MedGen|.|.|MedGen:OMIM:SNOMED_CT;CLNDSDBID=C2674152|.|.|C0000809:614389:102878001 11.3968494 520 10 100144782 100144782 C T exonic PYROXD2 NA nonsynonymous SNV PYROXD2:NM_032709:exon15:c.G1597A:p.A533T exonic ENSG00000119943 NA nonsynonymous SNV ENSG00000119943:ENST00000370575:exon15:c.G1597A:p.A533T Score=553;Name=lod=236 NA 10q24.2 Score=703;Name=V$HOX13_01 NA NA NA rs2296441 0.36 0.36 0.345 0.404553 0.2634 0.4425 0.4121 0.3691 0.5532 0.26 0.47 0.4 0.36 0.371 0.47 0.55 T 0.117 B 0.01 B 0.000 D 0.000 P 0.825 L 0.81 T -0.937 T 0.000 T 0.201 1.483 10.91 5.16 2.394 0.920 8.143 1.48306 1.48306 0.72 0.303488 0.372674 NA 0.268 NA 11.3954454 521 19 2249477 2249477 G T exonic AMH NA nonsynonymous SNV AMH:NM_000479:exon1:c.G146T:p.S49I exonic ENSG00000104899 NA nonsynonymous SNV ENSG00000104899:ENST00000221496:exon1:c.G146T:p.S49I,ENSG00000104899:ENST00000592877:exon1:c.G146T:p.S49I NA NA 19p13.3 NA Name=CCNT2,AP-2gamma,Pol2-4H8,HMGN3 Name=9 NA rs10407022 0.67 0.67 0.697 0.675919 0.8201 0.5863 0.696 0.5227 0.8129 0.8 0.61 0.72 0.51 0.7876 0.83 0.04 D 0.838 P 0.367 B 0.383 U 1.000 P 0.805 L -1.76 D -0.951 T 0.000 T 0.104 1.981 12.58 2.69 0.554 2.143 10.918 1.981043 1.981043 0.04 0.831006 0.56051 NA 0.775 NA 11.3946274 521 2 196851911 196851911 G A exonic DNAH7 NA nonsynonymous SNV DNAH7:NM_018897:exon14:c.C1633T:p.R545C exonic ENSG00000118997 NA nonsynonymous SNV ENSG00000118997:ENST00000312428:exon14:c.C1633T:p.R545C Score=479;Name=lod=118 NA 2q32.3 NA NA NA NA rs10931715 0.55 0.55 0.529 0.540735 0.664 0.6359 0.6326 0.1664 0.7566 0.68 0.67 0.6 0.17 0.6312 0.68 0.18 T 0.014 B 0.007 B 0.000 D 0.000 P 2.32 M 1.92 T -0.992 T 0.000 T 0.298 2.126 13.06 4.86 1.398 3.997 9.738 2.12579 2.12579 0.2 0.644245 0.258583 NA 0.486 NA 11.3938884 521 2 71043461 71043461 C T exonic CLEC4F NA nonsynonymous SNV CLEC4F:NM_001258027:exon4:c.G1052A:p.R351H,CLEC4F:NM_173535:exon4:c.G1052A:p.R351H exonic ENSG00000152672 NA nonsynonymous SNV ENSG00000152672:ENST00000272367:exon4:c.G1052A:p.R351H,ENSG00000152672:ENST00000426626:exon4:c.G1052A:p.R351H NA NA 2p13.3 Score=818;Name=V$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 522 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 522 11 9769562 9769562 C G exonic SWAP70 NA nonsynonymous SNV SWAP70:NM_015055:exon10:c.C1513G:p.Q505E exonic ENSG00000133789 NA nonsynonymous SNV ENSG00000133789:ENST00000447399:exon9:c.C1339G:p.Q447E,ENSG00000133789:ENST00000318950:exon10:c.C1513G:p.Q505E Score=371;Name=lod=43 NA 11p15.4 NA NA Name=11 NA rs415895 0.55 0.55 0.525 0.520367 0.661 0.3899 0.5576 0.4871 0.5286 0.66 0.4 0.65 0.49 0.6214 0.67 1 T 0.118 B 0.016 B 0.000 D 0.022 P 0.895 L 2.45 T -0.971 T 0.000 T 0.107 1.008 9.116 5.72 2.703 5.743 19.880 1.007821 NA 1 0.669306 0.529759 NA 0.565 NA 11.3816274 522 5 150051958 150051958 T C exonic MYOZ3 NA nonsynonymous SNV MYOZ3:NM_001122853:exon6:c.T481C:p.S161P,MYOZ3:NM_133371:exon6:c.T481C:p.S161P exonic ENSG00000164591 NA nonsynonymous SNV ENSG00000164591:ENST00000520112:exon1:c.T230C:p.L77P,ENSG00000164591:ENST00000523553:exon2:c.T205C:p.S69P,ENSG00000164591:ENST00000297130:exon6:c.T481C:p.S161P,ENSG00000164591:ENST00000517768:exon6:c.T481C:p.S161P Score=518;Name=lod=170 NA 5q33.1 Score=972;Name=V$GATA2_01 Name=YY1_(C-20) Name=71 NA rs194134 0.99 0.99 0.996 0.994808 0.9811 1 0.9942 0.9992 0.998 0.99 1 1 1 0.9903 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.605 N 0.18 T -0.955 T 0.000 T 0.146 1.278 10.18 4.91 1.308 4.469 10.762 1.278277 1.278277 1 0.984767 0.996369 NA 0.993 NA 11.3771664 522 7 21924014 21924014 A G exonic DNAH11 NA nonsynonymous SNV DNAH11:NM_001277115:exon76:c.A12493G:p.M4165V exonic ENSG00000105877 NA nonsynonymous SNV ENSG00000105877:ENST00000409508:exon76:c.A12493G:p.M4165V,ENSG00000105877:ENST00000328843:exon77:c.A12514G:p.M4172V Score=527;Name=lod=184 NA 7p15.3 Score=801;Name=V$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 523 7 21893993 21893993 G T exonic DNAH11 NA nonsynonymous SNV DNAH11:NM_001277115:exon68:c.G11122T:p.V3708L exonic ENSG00000105877 NA nonsynonymous SNV ENSG00000105877:ENST00000607413:exon3:c.G232T:p.V78L,ENSG00000105877:ENST00000409508:exon68:c.G11122T:p.V3708L,ENSG00000105877:ENST00000328843:exon69:c.G11143T:p.V3715L Score=535;Name=lod=199 NA 7p15.3 NA NA NA NA rs4722064 0.51 0.51 0.493 0.459465 0.7087 0.3304 0.5375 0.3578 0.4182 0.72 0.3 0.55 0.37 0.5705 0.72 0.03 D . . . . 0.000 D 0.000 P . . 1.86 T -0.976 T 0.000 T 0.312 5.08 31 5.69 2.679 3.870 18.593 5.079839 5.079839 0.01 0.679218 0.420652 NA 0.551 NA 11.3749154 523 1 201052310 201052310 A T exonic CACNA1S NA nonsynonymous SNV CACNA1S:NM_000069:exon10:c.T1373A:p.L458H exonic ENSG00000081248 NA nonsynonymous SNV ENSG00000081248:ENST00000362061:exon10:c.T1373A:p.L458H,ENSG00000081248:ENST00000367338:exon10:c.T1373A:p.L458H NA NA 1q32.1 NA NA NA NA rs12742169 0.17 0.17 0.152 0.127196 0.34 0.001 0.2032 0.0257 0.1217 0.35 0.0017 0.27 0.04 0.2428 0.38 0.29 T 0.835 P 0.466 P 0.631 N 1.000 P 1.385 L -4.47 D -0.999 T 0.000 T 0.111 1.955 12.5 3.39 1.786 4.578 4.02 1.955446 1.955446 0.2 0.376163 0.076487 NA NA NA 11.3743704 523 11 46387868 46387868 A G exonic DGKZ NA nonsynonymous SNV DGKZ:NM_001105540:exon2:c.A62G:p.Q21R exonic ENSG00000149091 NA nonsynonymous SNV ENSG00000149091:ENST00000454345:exon2:c.A62G:p.Q21R Score=383;Name=lod=48 NA 11p11.2 Score=842;Name=V$AP4_01 NA NA NA rs1317826 0.4 0.4 0.393 0.435503 0.3111 0.1458 0.2493 0.9107 0.3517 0.31 0.17 0.26 0.91 0.3681 0.91 1 T 0.0 B 0.0 B 0.058 N 0.000 P -0.46 N -0.09 T -0.954 T 0.000 T 0.028 -0.347 2.36 4.53 1.049 3.832 13.060 -0.346808 NA 1 0.28066 0.742525 NA 0.399 NA 11.3734734 523 2 101624471 101624471 T C exonic TBC1D8 NA nonsynonymous SNV TBC1D8:NM_001102426:exon20:c.A3235G:p.R1079G exonic ENSG00000204634 NA nonsynonymous SNV ENSG00000204634:ENST00000376840:exon20:c.A3235G:p.R1079G,ENSG00000204634:ENST00000409318:exon20:c.A3280G:p.R1094G Score=491;Name=lod=132 NA 2q11.2 NA Name=Pol2(b),ZNF263,Pol2 Name=45 NA rs746924 0.54 0.54 0.509 0.514377 0.6819 0.2946 0.5706 0.4667 0.593 0.68 0.36 0.65 0.47 0.6101 0.68 0.53 T 0.0 B 0.0 B 0.001 N 0.000 P -0.605 N 4.09 T -1.113 T 0.000 T 0.083 -1.024 0.227 5.14 1.143 1.224 13.542 -1.023717 NA 0.81 0.668207 0.518645 NA 0.63 NA 11.3731264 523 3 44929287 44929287 G C exonic TGM4 NA nonsynonymous SNV TGM4:NM_003241:exon3:c.G300C:p.E100D exonic ENSG00000163810 NA nonsynonymous SNV ENSG00000163810:ENST00000296125:exon3:c.G300C:p.E100D NA NA 3p21.31 Score=894;Name=V$AREB6_02 NA NA NA rs2271087 0.42 0.42 0.398 0.427117 0.2873 0.8165 0.4251 0.1566 0.5368 0.29 0.85 0.38 0.16 0.3792 0.85 0.31 T 0.912 P 0.6 P 0.169 U 1.000 P 1.295 L -1.6 D -0.957 T 0.000 T 0.068 1.567 11.2 1.43 1.094 1.822 6.276 1.567273 1.567273 0 0.294302 0.17635 NA 0.428 NA 11.3725314 523 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 523 8 121061879 121061879 G A exonic DEPTOR NA nonsynonymous SNV DEPTOR:NM_022783:exon9:c.G1166A:p.S389N exonic ENSG00000155792 NA nonsynonymous SNV ENSG00000155792:ENST00000523492:exon7:c.G863A:p.S288N,ENSG00000155792:ENST00000286234:exon9:c.G1166A:p.S389N Score=550;Name=lod=229 NA 8q24.12 NA NA NA NA rs4871827 0.37 0.37 0.36 0.299521 0.331 0.5526 0.4784 0.1241 0.1166 0.33 0.57 0.48 0.13 0.3201 0.57 0.07 T 0.11 B 0.037 B 0.000 D 0.000 P 1.625 L 1.54 T -0.902 T 0.000 T 0.211 3.319 17.16 6.01 2.861 8.997 20.116 3.319471 3.319471 0.2 0.316977 0.149115 NA 0.399 NA 11.3652564 524 20 4680251 4680251 A G exonic PRNP NA nonsynonymous SNV PRNP:NM_000311:exon2:c.A385G:p.M129V,PRNP:NM_001080121:exon2:c.A385G:p.M129V,PRNP:NM_001080122:exon2:c.A385G:p.M129V,PRNP:NM_001080123:exon2:c.A385G:p.M129V,PRNP:NM_183079:exon2:c.A385G:p.M129V exonic ENSG00000171867 NA nonsynonymous SNV ENSG00000171867:ENST00000379440:exon2:c.A385G:p.M129V,ENSG00000171867:ENST00000424424:exon2:c.A385G:p.M129V,ENSG00000171867:ENST00000430350:exon2:c.A385G:p.M129V,ENSG00000171867:ENST00000457586:exon2:c.A385G:p.M129V Score=475;Name=lod=114 Name=Creutzfeldt-Jakob disease,Prion diseases 20p13 NA NA NA NA rs1799990 0.26 0.26 0.268 0.266573 0.325 0.0248 0.4063 0.3525 0.2403 0.33 0.02 0.39 0.35 0.3078 0.39 0.02 D 0.121 B 0.04 B 0.002 N 0.184 P 1.5 L -1.42 T -1.093 T 0.000 T 0.68 1.779 11.91 2.93 0.281 0.521 5.837 1.778679 1.778679 0 0.33593 0.341353 ID=COSM42856;OCCURENCE=1(skin),1(large_intestine),1(central_nervous_system) 0.304 CLINSIG=other|other|other|pathogenic|pathogenic|non-pathogenic|probable-non-pathogenic;CLNDBN=Prion_disease\x2c_susceptibility_to|Alzheimer_disease\x2c_early-onset\x2c_susceptibility_to|Aphasia\x2c_primary_progressive\x2c_susceptibility_to|Jakob-Creutzfeldt_disease|Fatal_familial_insomnia|Genetic_prion_diseases|not_specified;CLNREVSTAT=single|single|single|single|single|single|single;CLNACC=RCV000014331.3|RCV000014332.3|RCV000014333.3|RCV000014336.23|RCV000014337.23|RCV000020244.1|RCV000118064.2;CLNDSDB=.|.|.|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|GeneReviews:MedGen|.;CLNDSDBID=.|.|.|NBK1229:C0022336:123400:ORPHA204:792004|NBK1229:C0206042:600072:ORPHA466:83157008|NBK1229:C0162534|. 11.3646034 524 3 39180263 39180263 G A exonic TTC21A NA nonsynonymous SNV TTC21A:NM_001105513:exon28:c.G3803A:p.R1268K,TTC21A:NM_145755:exon29:c.G3947A:p.R1316K exonic ENSG00000168026 NA nonsynonymous SNV ENSG00000168026:ENST00000440121:exon28:c.G3803A:p.R1268K,ENSG00000168026:ENST00000301819:exon29:c.G3950A:p.R1317K,ENSG00000168026:ENST00000431162:exon29:c.G3947A:p.R1316K Score=550;Name=lod=230 NA 3p22.2 Score=878;Name=V$COUP_01 Name=BATF Name=9 NA rs704959 0.56 0.56 0.517 0.546126 0.666 0.7252 0.6571 0.1573 0.6851 0.67 0.71 0.63 0.17 0.645 0.71 0.97 T 0.0 B 0.002 B 0.007 N 0.998 P 0.69 N 0.32 T -0.924 T 0.000 T 0.032 1.459 10.82 4.41 1.226 0.882 4.388 1.459146 1.459146 0.68 0.659019 0.263383 NA 0.529 NA 11.3633144 524 3 113379865 113379865 G C exonic KIAA2018 NA nonsynonymous SNV KIAA2018:NM_001009899:exon7:c.C664G:p.P222A exonic ENSG00000176542 NA nonsynonymous SNV ENSG00000176542:ENST00000478658:exon5:c.C664G:p.P222A,ENSG00000176542:ENST00000316407:exon7:c.C664G:p.P222A Score=623;Name=lod=455 NA 3q13.2 Score=868;Name=V$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 524 18 60021761 60021761 C T exonic TNFRSF11A NA nonsynonymous SNV TNFRSF11A:NM_001270949:exon4:c.C421T:p.H141Y,TNFRSF11A:NM_001270950:exon4:c.C421T:p.H141Y,TNFRSF11A:NM_001270951:exon4:c.C421T:p.H141Y,TNFRSF11A:NM_003839:exon4:c.C421T:p.H141Y exonic ENSG00000141655 NA nonsynonymous SNV ENSG00000141655:ENST00000269485:exon4:c.C421T:p.H141Y,ENSG00000141655:ENST00000586569:exon4:c.C421T:p.H141Y Score=371;Name=lod=43 NA 18q21.33 NA NA NA NA rs35211496 0.08 0.08 0.08 0.0573083 0.174 0.001 0.0908 0.0038 0.044 0.16 0.0017 0.13 0.01 0.1211 0.18 . . 0.516 P 0.046 B 0.082 U 0.978 P 1.1 L 0.04 T -1.099 T 0.000 T 0.148 2.32 13.72 3.12 1.239 1.907 9.987 2.320014 2.320014 0.49 0.17869 0.034314 ID=COSM438291;OCCURENCE=1(breast) 0.022 NA 11.3595434 524 18 76753588 76753588 A G exonic SALL3 NA nonsynonymous SNV SALL3:NM_171999:exon2:c.A1597G:p.T533A exonic ENSG00000256463 NA nonsynonymous SNV ENSG00000256463:ENST00000536229:exon1:c.A1198G:p.T400A,ENSG00000256463:ENST00000537592:exon2:c.A1597G:p.T533A,ENSG00000256463:ENST00000575389:exon2:c.A1597G:p.T533A Score=383;Name=lod=48 NA 18q23 Score=845;Name=V$CMYB_01 NA NA NA rs7240860 0.75 0.75 0.72 0.71885 0.8459 0.9127 0.8242 0.3374 0.8292 0.83 0.93 0.85 0.32 0.7993 0.93 0.14 T 0.954 P 0.437 B 0.000 D 0.000 P 2.15 M 2.89 T -1.060 T 0.000 T 0.359 -0.104 3.488 2.73 0.267 4.407 8.142 -0.104379 NA 0.08 0.82983 0.418813 ID=COSM438398;OCCURENCE=1(breast) 0.558 NA 11.3583034 524 12 117693817 117693817 G A exonic NOS1 NA nonsynonymous SNV NOS1:NM_001204218:exon17:c.C2557T:p.P853S exonic ENSG00000089250 NA nonsynonymous SNV ENSG00000089250:ENST00000338101:exon16:c.C2557T:p.P853S Score=561;Name=lod=254 NA 12q24.22 Score=781;Name=V$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 525 12 120907271 120907271 G T exonic SRSF9 NA synonymous SNV SRSF9:NM_003769:exon1:c.C142A:p.R48R exonic ENSG00000111786 NA synonymous SNV ENSG00000111786:ENST00000229390:exon1:c.C142A:p.R48R,ENSG00000111786:ENST00000603963:exon1:c.C142A:p.R48R Score=652;Name=lod=596 NA 12q24.31 NA Name=Pol2-4H8,Pol2,Pol2(b),c-Myc Name=71 NA rs11548262 0.09 0.09 0.08 0.0738818 0.1074 0.0794 0.0879 0.0272 0.0869 0.12 0.08 0.09 0.06 0.0988 0.12 . . . . . . . . 0.000 P . . . . -1.027 T 0.004 T . 2.042 12.78 4.53 2.362 0.492 11.996 2.04178 2.04178 NA 0.106744 0.03064 ID=COSM1359373;OCCURENCE=1(large_intestine) NA NA 11.3537226 525 17 7329134 7329134 G A exonic C17orf74 NA nonsynonymous SNV C17orf74:NM_175734:exon1:c.G127A:p.V43M exonic ENSG00000184560 NA nonsynonymous SNV ENSG00000184560:ENST00000333870:exon1:c.G127A:p.V43M,ENSG00000184560:ENST00000574034:exon1:c.G127A:p.V43M NA NA 17p13.1 Score=896;Name=V$CDPCR3HD_01 Name=CEBPB NA NA rs72842820 0.1 0.1 0.107 0.115016 0.1511 0.002 0.0865 0.1369 0.1851 0.15 NA 0.08 0.16 0.1511 0.18 0.15 T 0.749 P 0.061 B 0.378 N 1.000 P 0.865 L 0.44 T -1.095 T 0.000 T 0.086 1.453 10.8 -3.82 -0.695 -1.738 10.288 1.453417 1.453417 NA 0.178849 0.131268 NA 0.116 NA 11.3522844 525 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 525 1 75097426 75097426 G C exonic C1orf173 NA nonsynonymous SNV C1orf173:NM_001002912:exon7:c.C790G:p.P264A exonic ENSG00000178965 NA nonsynonymous SNV ENSG00000178965:ENST00000420661:exon2:c.C199G:p.P67A,ENSG00000178965:ENST00000479666:exon2:c.C199G:p.P67A,ENSG00000178965:ENST00000326665:exon7:c.C790G:p.P264A Score=449;Name=lod=89 NA 1p31.1 NA NA NA NA rs11210490 0.34 0.34 0.32 0.320887 0.5268 0.1141 0.4741 0.2284 0.3384 0.51 0.11 0.49 0.24 0.4339 0.53 0.06 T 0.995 D 0.893 P . . 0.043 P 2.24 M 2.43 T -1.055 T 0.067 T 0.164 1.209 9.911 3.49 0.640 2.431 9.857 1.209431 NA 0 0.525465 0.317522 NA 0.37 NA 11.3471684 525 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-C20,PAX5-N19 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 525 21 15516948 15516948 C T exonic LIPI NA nonsynonymous SNV LIPI:NM_198996:exon9:c.G1354A:p.E452K exonic ENSG00000188992 NA nonsynonymous SNV ENSG00000188992:ENST00000344577:exon9:c.G1354A:p.E452K,ENSG00000188992:ENST00000536861:exon9:c.G1291A:p.E431K Score=446;Name=lod=87 NA 21q11.2 NA NA NA NA rs2822432 0.32 0.32 0.319 0.317292 0.33 0.0526 0.4006 0.5537 0.1984 0.34 0.06 0.4 0.54 0.3193 0.54 0.59 T 0.317 B 0.23 B 0.460 U 0.934 P 1.895 L -2.44 D -0.979 T 0.000 T 0.206 4.388 23.2 5.34 2.654 1.230 14.904 4.387982 4.387982 0.09 0.33791 0.532955 NA 0.326 NA 11.3461234 526 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 526 9 127618839 127618839 C G exonic WDR38 NA nonsynonymous SNV WDR38:NM_001276376:exon5:c.C431G:p.A144G,WDR38:NM_001045476:exon6:c.C578G:p.A193G,WDR38:NM_001276374:exon6:c.C578G:p.A193G,WDR38:NM_001276375:exon6:c.C545G:p.A182G exonic ENSG00000136918 NA nonsynonymous SNV ENSG00000136918:ENST00000373574:exon6:c.C578G:p.A193G Score=417;Name=lod=66 NA 9q33.3 Score=847;Name=V$RFX1_02 Name=Pol2(phosphoS2),Pol2,Pol2-4H8 Name=15 NA rs10760381 0.99 0.99 0.988 0.982029 1 1 0.9914 0.9365 1 1 1 0.99 0.95 0.9944 1 0.91 T 0.0 B 0.0 B 0.003 N 1.000 P 0.415 N 0.34 T -0.937 T 0.000 T 0.019 0.644 7.456 4.68 1.207 2.233 12.769 0.643604 NA 1 0.999523 0.938079 NA 0.993 NA 11.3394104 526 3 124839470 124839470 G A exonic SLC12A8 NA nonsynonymous SNV SLC12A8:NM_001195483:exon6:c.C797T:p.P266L,SLC12A8:NM_024628:exon7:c.C797T:p.P266L exonic ENSG00000221955 NA nonsynonymous SNV ENSG00000221955:ENST00000430155:exon1:c.C200T:p.P67L,ENSG00000221955:ENST00000479826:exon4:c.C443T:p.P148L,ENSG00000221955:ENST00000314584:exon6:c.C56T:p.P19L,ENSG00000221955:ENST00000393469:exon6:c.C797T:p.P266L,ENSG00000221955:ENST00000423114:exon7:c.C884T:p.P295L,ENSG00000221955:ENST00000469902:exon7:c.C797T:p.P266L Score=557;Name=lod=244 NA 3q21.2 NA Name=EBF1_(C-8),NFKB,EBF,PAX5-C20 Name=52 NA rs863642 0.98 0.98 0.98 0.984225 1 1 0.9928 0.944 1 1 1 0.99 0.94 0.9947 1 0.75 T 0.001 B 0.001 B . . 0.751 P -1.675 N -4.96 D -0.921 T 0.000 T 0.301 2.419 14.05 5.62 0.959 6.066 10.121 2.419064 2.419064 0.5 0.999758 0.943362 NA 0.949 NA 11.3388754 526 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 526 11 121437819 121437819 C G exonic SORL1 NA nonsynonymous SNV SORL1:NM_003105:exon22:c.C3220G:p.Q1074E exonic ENSG00000137642 NA nonsynonymous SNV ENSG00000137642:ENST00000525532:exon2:c.C52G:p.Q18E,ENSG00000137642:ENST00000260197:exon22:c.C3220G:p.Q1074E Score=485;Name=lod=125 NA 11q24.1 NA Name=PU.1 Name=3 NA rs1699107 0.99 0.99 0.982 0.984824 1 1 0.9957 0.9448 1 1 1 1 0.95 0.9949 1 1 T 0.0 B 0.0 B 0.145 N 0.000 P -0.755 N -2.49 D -0.939 T 0.000 T 0.08 -1.821 0.009 4.38 0.969 3.175 13.339 -1.820941 NA 0.47 0.999884 0.940309 NA 0.949 NA 11.3385494 526 1 248039451 248039451 C T exonic TRIM58 NA nonsynonymous SNV TRIM58:NM_015431:exon6:c.C1121T:p.T374M exonic ENSG00000162722 NA nonsynonymous SNV ENSG00000162722:ENST00000366481:exon6:c.C1121T:p.T374M NA Name=Red blood cell traits,Platelet counts 1q44 NA NA NA NA rs3811444 0.23 0.23 0.215 0.227436 0.3449 0.2292 0.2896 0.0401 0.3139 0.33 0.23 0.27 0.05 0.3049 0.35 0.22 T 0.999 D 0.964 D 0.027 N 1.000 P 2 M -0.4 T -1.046 T 0.000 T 0.104 0.245 5.325 2.21 0.697 0.168 4.515 0.245339 NA 0.24 0.345814 0.088743 ID=COSM146852;OCCURENCE=1(stomach),1(large_intestine) 0.203 NA 11.3377194 526 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 527 1 109704618 109704618 A G exonic KIAA1324 NA nonsynonymous SNV KIAA1324:NM_001267048:exon2:c.A256G:p.I86V,KIAA1324:NM_020775:exon2:c.A256G:p.I86V exonic ENSG00000116299 NA nonsynonymous SNV ENSG00000116299:ENST00000369939:exon2:c.A256G:p.I86V,ENSG00000116299:ENST00000457623:exon2:c.A256G:p.I86V,ENSG00000116299:ENST00000529753:exon2:c.A256G:p.I86V,ENSG00000116299:ENST00000526264:exon3:c.A256G:p.I86V,ENSG00000116299:ENST00000531664:exon3:c.A256G:p.I86V,ENSG00000116299:ENST00000533147:exon3:c.A256G:p.I86V,ENSG00000116299:ENST00000534476:exon3:c.A256G:p.I86V Score=547;Name=lod=223 NA 1p13.3 Score=777;Name=V$PAX2_01 Name=Pbx3 Name=115 NA rs678238 1 1 0.998 0.995607 1 0.999 0.9986 0.9849 1 1 1 1 1 0.9987 1 1 T 0.0 B 0.0 B 0.000 N 0.968 P -1.78 N 1.62 T -0.992 T 0.009 T 0.22 0.881 8.575 5.55 1.356 3.153 11.459 0.881009 NA 1 0.999884 0.986836 NA 1 NA 11.3347494 527 3 24006477 24006477 T A exonic NR1D2 NA nonsynonymous SNV NR1D2:NM_001145425:exon6:c.T931A:p.L311M,NR1D2:NM_005126:exon6:c.T1156A:p.L386M exonic ENSG00000174738 NA nonsynonymous SNV ENSG00000174738:ENST00000312521:exon6:c.T1156A:p.L386M Score=519;Name=lod=171 NA 3p24.2 NA NA Name=13 NA rs4858097 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 1 T 0.0 B 0.01 B 0.000 N 1.000 P -0.29 N -3.69 D -0.921 T 0.000 T 0.266 0.165 4.89 5.78 1.122 6.020 12.694 0.165419 NA 1 NA NA NA 0.986 NA 11.3334334 527 21 30257568 30257568 T C exonic N6AMT1 NA nonsynonymous SNV N6AMT1:NM_013240:exon1:c.A100G:p.N34D,N6AMT1:NM_182749:exon1:c.A100G:p.N34D exonic ENSG00000156239 NA nonsynonymous SNV ENSG00000156239:ENST00000303775:exon1:c.A100G:p.N34D,ENSG00000156239:ENST00000351429:exon1:c.A100G:p.N34D,ENSG00000156239:ENST00000460212:exon1:c.A100G:p.N34D Score=518;Name=lod=170 NA 21q21.3 NA Name=ATF3,GATA-1,BCLAF1_(M33-P5B11),HEY1,ELF1_(SC-631),STAT1,ETS1,Pol2-4H8,GABP,SP2_(SC-643),HMGN3,TAF1,E2F6,E2F6_(H-50),Ini1,HDAC2_(SC-6296),TAF7_(SQ-8),USF1_(SC-8983),HA-E2F1,Pol2,USF2,USF-1,Pol2(phosphoS2),ZNF263,GTF2F1_(RAP-74),STAT2,NANOG_(SC-33759),YY1,eGFP-NR4A1,ZBTB7A_(SC-34508),Pol2(b),CCNT2,TBP,Egr-1,STAT3,PAX5-C20,NRSF,Mxi1_(bHLH),THAP1_(SC-98174),FOSL1_(SC-183),Sin3Ak-20,SETDB1,eGFP-JunD,c-Myc,IRF1,SP1,Max,YY1_(C-20) Name=148 NA rs1997607 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.485 N 2.71 T -0.969 T 0.000 T 0.099 0.497 6.698 5.18 1.439 3.760 9.814 0.497497 NA 1 NA NA NA 1 NA 11.3334334 527 15 48807637 48807637 C T exonic FBN1 NA nonsynonymous SNV FBN1:NM_000138:exon12:c.G1415A:p.C472Y exonic ENSG00000166147 NA nonsynonymous SNV ENSG00000166147:ENST00000316623:exon12:c.G1415A:p.C472Y Score=637;Name=lod=515 NA 15q21.1 Score=764;Name=V$STAT1_01 NA NA NA rs4775765 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -4.395 N -2.08 D -0.879 T 0.000 T 0.383 0.761 8.028 5.93 1.083 5.964 11.444 0.761024 NA 1 NA NA NA 1 NA 11.3333334 527 17 42030743 42030743 G C exonic PYY NA nonsynonymous SNV PYY:NM_004160:exon5:c.C109G:p.R37G exonic ENSG00000131096 NA nonsynonymous SNV ENSG00000131096:ENST00000592796:exon2:c.C109G:p.R37G,ENSG00000131096:ENST00000360085:exon5:c.C109G:p.R37G NA NA 17q21.31 Score=809;Name=V$E2F_01 Name=TAF1 Name=5 NA rs229969 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B . . 1.000 P . . 1.61 T -0.955 T 0.000 T 0.175 -0.544 1.532 2.43 0.992 2.522 5.420 -0.544086 NA 1 NA NA NA 0.935 NA 11.3333334 527 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$RORA1_01 NA NA NA rs2425015 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.003 N 0.992 P -3.86 N -1.64 D -0.902 T 0.000 T 0.225 1.729 11.74 5.38 1.534 7.797 14.482 1.728772 1.728772 1 NA NA NA 1 NA 11.3333334 527 21 35467645 35467645 A G exonic SLC5A3 NA nonsynonymous SNV SLC5A3:NM_006933:exon2:c.A148G:p.T50A exonic ENSG00000198743 NA nonsynonymous SNV ENSG00000198743:ENST00000381151:exon2:c.A148G:p.T50A Score=694;Name=lod=882 NA 21q22.11 Score=864;Name=V$RORA1_01 NA NA NA rs8129891 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.17 T 0.0 B 0.0 B 0.000 N 0.000 P -1.575 N -2.22 D -0.902 T 0.000 T 0.07 2.066 12.86 6.11 1.615 5.337 14.460 2.065652 2.065652 0.82 NA NA NA 1 NA 11.3333334 527 X 77298857 77298857 G A exonic ATP7A NA nonsynonymous SNV ATP7A:NM_000052:exon21:c.G4048A:p.E1350K exonic ENSG00000165240 NA nonsynonymous SNV ENSG00000165240:ENST00000350425:exon8:c.G1057A:p.E353K,ENSG00000165240:ENST00000343533:exon20:c.G3814A:p.E1272K,ENSG00000165240:ENST00000341514:exon21:c.G4048A:p.E1350K Score=662;Name=lod=656 NA Xq21.1 NA NA NA NA rs4826245 1 1 1 NA NA NA NA NA NA 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.000 N 0.999 P -1.87 N -4.81 D -0.903 T 0.000 T 0.337 -0.394 2.155 5.21 0.631 7.078 10.279 -0.39354 NA 1 NA NA NA 0.739 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078036.1;CLNDSDB=.;CLNDSDBID=. 11.3333334 527 11 1082353 1082353 C T exonic MUC2 NA nonsynonymous SNV MUC2:NM_002457:exon14:c.C1808T:p.S603L exonic ENSG00000198788 NA nonsynonymous SNV ENSG00000198788:ENST00000359061:exon14:c.C1808T:p.S603L,ENSG00000198788:ENST00000441003:exon14:c.C1808T:p.S603L Score=369;Name=lod=42 NA 11p15.5 NA NA NA NA NA NA NA NA 0.000199681 NA NA NA 0.0008 NA NA NA NA NA 0.00004077 NA 0.22 T 0.581 P 0.459 P 0.878 N 1.000 N 1.43 L -1.16 T -0.700 T 0.384 T 0.225 1.467 10.85 2.82 0.622 0.868 7.328 1.466895 1.466895 0.24 NA NA NA NA NA 11.3332926 527 19 36674413 36674413 G A exonic ZNF565 NA nonsynonymous SNV ZNF565:NM_001042474:exon5:c.C455T:p.T152M,ZNF565:NM_152477:exon5:c.C455T:p.T152M exonic ENSG00000196357 NA nonsynonymous SNV ENSG00000196357:ENST00000591473:exon4:c.C260T:p.T87M,ENSG00000196357:ENST00000304116:exon5:c.C455T:p.T152M,ENSG00000196357:ENST00000355114:exon5:c.C575T:p.T192M,ENSG00000196357:ENST00000392173:exon5:c.C455T:p.T152M NA NA 19q13.12 NA NA Name=63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 NA 0.01 D 0.005 B 0.012 B 0.295 N 1.000 N 1.19 L 3.25 T -0.981 T 0.014 T 0.228 1.115 9.549 -3.03 -0.404 -0.590 1.269 1.115367 NA 0.02 NA NA NA NA NA 11.3331334 527 15 22853786 22853786 C T exonic TUBGCP5 NA nonsynonymous SNV TUBGCP5:NM_001102610:exon12:c.C1424T:p.T475M,TUBGCP5:NM_052903:exon12:c.C1424T:p.T475M exonic ENSG00000153575 NA nonsynonymous SNV ENSG00000153575:ENST00000283645:exon12:c.C1424T:p.T475M,ENSG00000153575:ENST00000453949:exon12:c.C1424T:p.T475M Score=436;Name=lod=79 NA 15q11.2 NA NA NA NA rs139868545 0.0005 0.0005 NA NA NA NA NA NA NA 0.0013 NA NA NA 0.0003 0.0013 0.42 T 0.921 P 0.5 P 0.002 N 0.755 D 0.69 N 3.35 T -0.881 T 0.014 T 0.348 1.85 12.15 1.58 0.041 1.557 8.458 1.850286 1.850286 0.22 0.000349 0.000227 NA NA NA 11.3326844 527 12 111353547 111353547 G T exonic MYL2 NA nonsynonymous SNV MYL2:NM_000432:exon3:c.C141A:p.N47K exonic ENSG00000111245 NA nonsynonymous SNV ENSG00000111245:ENST00000228841:exon3:c.C141A:p.N47K Score=599;Name=lod=363 NA 12q24.11 NA NA NA NA rs199474808 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0006 0.17 T 0.308 B 0.392 B 0.001 N 1.000 D 0.455 N -0.0 T -1.045 T 0.126 T 0.207 3.091 16.32 -5.06 -0.755 -0.764 6.905 3.091497 3.091497 0.04 0.000581 0 NA NA CLINSIG=probable-non-pathogenic;CLNDBN=not_specified,not_provided|not_specified;CLNREVSTAT=single,not|single;CLNACC=RCV000036382.1,RCV000024457.1|RCV000036381.1;CLNDSDB=.,.|.;CLNDSDBID=.,.|. 11.3325524 527 6 116574452 116574452 C T exonic TSPYL4 NA nonsynonymous SNV TSPYL4:NM_021648:exon1:c.G720A:p.M240I exonic ENSG00000187189 NA nonsynonymous SNV ENSG00000187189:ENST00000420283:exon1:c.G720A:p.M240I Score=541;Name=lod=210 NA 6q22.1 NA Name=E2F6 NA NA rs201915650 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0008 0.0008 0.06 T 0.036 B 0.105 B . . 0.867 N -1.15 N 1.85 T -0.977 T 0.011 T 0.573 2.728 15.08 3.98 2.514 0.625 9.994 2.728277 2.728277 0.01 0.000837 0.000251 NA NA NA 11.3316964 527 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 527 17 38955991 38955991 C T exonic KRT28 NA nonsynonymous SNV KRT28:NM_181535:exon1:c.G155A:p.G52D exonic ENSG00000173908 NA nonsynonymous SNV ENSG00000173908:ENST00000306658:exon1:c.G155A:p.G52D Score=295;Name=lod=21 NA 17q21.2 NA NA NA NA rs7209228 0.11 0.11 0.112 0.104034 0.1829 0.004 0.1124 0.1256 0.091 0.17 NA 0.13 0.13 0.1428 0.18 0.12 T 0.808 P 0.186 B 0.134 N 0.986 P 0.895 L -2.37 D -1.017 T 0.002 T 0.246 2.697 14.98 3.47 0.765 2.612 14.993 2.696528 2.696528 NA 0.176512 0.112574 NA 0.167 NA 11.3311214 527 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 527 2 65541063 65541063 C G exonic SPRED2 NA nonsynonymous SNV SPRED2:NM_001128210:exon6:c.G820C:p.G274R,SPRED2:NM_181784:exon6:c.G829C:p.G277R exonic ENSG00000198369 NA nonsynonymous SNV ENSG00000198369:ENST00000421087:exon3:c.G475C:p.G159R,ENSG00000198369:ENST00000356388:exon6:c.G829C:p.G277R,ENSG00000198369:ENST00000443619:exon6:c.G820C:p.G274R,ENSG00000198369:ENST00000452315:exon6:c.G874C:p.G292R NA NA 2p14 NA NA NA NA rs148120209 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0021 0.0042 0.5 T 0.905 P 0.626 P 0.000 D 1.000 N 1.735 L -0.08 T -0.641 T 0.387 T 0.329 2.121 13.05 4.74 1.363 0.797 8.734 2.120824 2.120824 0.11 0.004186 0.000454 NA NA NA 11.3260474 528 1 226055624 226055624 C T exonic TMEM63A NA nonsynonymous SNV TMEM63A:NM_014698:exon7:c.G478A:p.V160I exonic ENSG00000196187 NA nonsynonymous SNV ENSG00000196187:ENST00000366835:exon7:c.G478A:p.V160I Score=650;Name=lod=582 NA 1q42.12 Score=964;Name=V$TCF11_01 NA NA NA rs115600896 0.0023 0.0023 NA 0.00179712 0.003 NA 0.0058 0.0008 0.001 0.004 NA 0.0028 0.002 0.0027 0.005 1 T 0.001 B 0.009 B 0.000 N 1.000 D -0.115 N 0.95 T -1.049 T 0.030 T 0.052 -0.122 3.401 3.03 0.850 -0.167 9.466 -0.122278 NA 1 0.005 0.000227 NA NA NA 11.3226334 528 8 2037874 2037874 C T exonic MYOM2 NA nonsynonymous SNV MYOM2:NM_003970:exon15:c.C1688T:p.T563M exonic ENSG00000036448 NA nonsynonymous SNV ENSG00000036448:ENST00000262113:exon15:c.C1688T:p.T563M NA NA 8p23.3 NA Name=GATA-2,c-Myc,Max Name=8 NA rs61732774 0.0023 0.0023 0.003 0.00179712 0.004 NA NA NA 0.0051 0.01 NA 0.0028 NA 0.0028 0.01 0.14 T 0.06 B 0.031 B 0.048 N 0.699 D 1.21 L 0.64 T -1.008 T 0.066 T 0.518 0.442 6.4 0.766 0.058 1.188 8.727 0.441892 NA 0.14 0.00407 0.000908 NA NA NA 11.3224634 528 16 320629 320629 C T exonic RGS11 NA nonsynonymous SNV RGS11:NM_003834:exon15:c.G1036A:p.V346I,RGS11:NM_183337:exon15:c.G1099A:p.V367I exonic ENSG00000076344 NA nonsynonymous SNV ENSG00000076344:ENST00000359740:exon14:c.G1066A:p.V356I,ENSG00000076344:ENST00000316163:exon15:c.G1036A:p.V346I,ENSG00000076344:ENST00000397770:exon15:c.G1099A:p.V367I Score=496;Name=lod=138 NA 16p13.3 NA NA NA NA rs77654034 0.0032 0.0032 NA 0.00159744 0.008 NA NA NA NA 0.01 NA NA NA 0.0022 0.01 1 T 0.325 B 0.252 B 0.000 N 1.000 D 0.36 N 4.65 T -0.882 T 0.003 T 0.167 0.272 5.47 3.15 0.680 2.193 9.967 0.271703 NA 1 0.002093 0.000456 NA 0.036 NA 11.3210404 528 11 12316146 12316146 C A exonic MICALCL NA nonsynonymous SNV MICALCL:NM_032867:exon3:c.C1168A:p.P390T exonic ENSG00000133808 NA nonsynonymous SNV ENSG00000133808:ENST00000256186:exon3:c.C1168A:p.P390T NA NA 11p15.3 NA Name=ZNF263 NA NA rs35331235 0.0023 0.0023 NA 0.00199681 0.006 NA 0.0029 NA 0.002 0.004 NA 0.01 NA 0.0027 0.01 0.5 T 0.112 B 0.069 B 0.014 N 1.000 N 2.045 M 2.89 T -1.023 T 0.023 T 0.229 0.243 5.313 4.78 1.384 0.205 10.937 0.24319 NA 0.25 0.004631 0.001066 NA NA NA 11.3200024 528 13 52542680 52542680 A G exonic ATP7B NA nonsynonymous SNV ATP7B:NM_000053:exon4:c.T1607C:p.V536A,ATP7B:NM_001005918:exon4:c.T1607C:p.V536A,ATP7B:NM_001243182:exon5:c.T1274C:p.V425A exonic ENSG00000123191 NA nonsynonymous SNV ENSG00000123191:ENST00000242839:exon4:c.T1607C:p.V536A,ENSG00000123191:ENST00000344297:exon4:c.T1607C:p.V536A,ENSG00000123191:ENST00000418097:exon4:c.T1607C:p.V536A,ENSG00000123191:ENST00000448424:exon4:c.T1607C:p.V536A,ENSG00000123191:ENST00000400366:exon5:c.T1274C:p.V425A NA NA 13q14.3 NA NA NA NA rs138427376 0.0037 0.0037 0.004 0.00159744 0.008 NA NA NA NA 0.01 NA NA NA 0.003 0.01 0.1 T 0.176 B 0.105 B 0.767 N 0.570 N 0.99 L -1.96 D -0.436 T 0.341 T 0.652 0.789 8.157 1.67 1.002 1.237 6.637 0.7887 NA 0.07 0.003089 0.000474 NA NA CLINSIG=probable-pathogenic;CLNDBN=Wilson's_disease;CLNREVSTAT=single;CLNACC=RCV000029352.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009 11.3192444 528 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 528 14 45711988 45711988 C A exonic MIS18BP1 NA nonsynonymous SNV MIS18BP1:NM_018353:exon3:c.G634T:p.A212S exonic ENSG00000129534 NA nonsynonymous SNV ENSG00000129534:ENST00000310806:exon3:c.G634T:p.A212S,ENSG00000129534:ENST00000454990:exon3:c.G634T:p.A212S NA NA 14q21.2 NA NA Name=13 NA rs138267500 NA NA NA 0.00119808 0.005 NA 0.0014 NA NA NA NA NA NA 0.0037 0.0065 0.56 T 0.001 B 0.002 B 0.221 N 1.000 N 0.55 N 2.23 T -1.012 T 0.015 T 0.098 1.67 11.54 -7.89 -1.457 -1.097 5.236 1.670226 1.670226 0.72 0.006512 0.001135 NA NA NA 11.3181214 528 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 529 7 1608812 1608812 C G exonic PSMG3 NA nonsynonymous SNV PSMG3:NM_032302:exon1:c.G164C:p.S55T,PSMG3:NM_001134340:exon2:c.G164C:p.S55T exonic ENSG00000157778 NA nonsynonymous SNV ENSG00000157778:ENST00000288607:exon1:c.G164C:p.S55T,ENSG00000157778:ENST00000252329:exon2:c.G164C:p.S55T,ENSG00000157778:ENST00000404674:exon2:c.G164C:p.S55T NA NA 7p22.3 Score=954;Name=V$NFY_Q6 Name=Pol2,c-Myc,BRCA1_(C-1863),TBP Name=79 NA rs34407549 0.01 0.01 0.004 0.00279553 0.004 NA 0.0115 0.0008 0.001 0.01 NA 0.02 0.002 0.0061 0.02 0.16 T 0.0 B 0.0 B 0.131 N 1.000 N 2.045 M . . -1.027 T 0.056 T 0.057 -0.356 2.318 -0.55 -0.009 0.651 5.261 -0.35633 NA 0.09 0.009302 0.000908 NA NA NA 11.3139314 529 6 49412433 49412433 C T exonic MUT NA nonsynonymous SNV MUT:NM_000255:exon9:c.G1595A:p.R532H exonic ENSG00000146085 NA nonsynonymous SNV ENSG00000146085:ENST00000274813:exon9:c.G1595A:p.R532H NA NA 6p12.3 NA NA NA NA rs1141321 0.26 0.26 0.262 0.265575 0.331 0.2063 0.2104 0.174 0.4223 0.37 0.2 0.23 0.19 0.3226 0.37 0.13 T 0.225 B 0.214 B 0.011 N 1.000 P 2.43 M -4.84 D 0.580 D 0.861 D 0.112 0.772 8.081 1.44 0.310 -0.018 9.977 0.772374 NA 0.1 0.366047 0.210849 NA 0.21 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078440.1;CLNDSDB=.;CLNDSDBID=. 11.3136864 529 19 2422191 2422191 G A exonic TMPRSS9 NA nonsynonymous SNV TMPRSS9:NM_182973:exon13:c.G2392A:p.G798R exonic ENSG00000178297 NA nonsynonymous SNV ENSG00000178297:ENST00000332578:exon13:c.G2392A:p.G798R NA NA 19p13.3 Score=750;Name=V$STAT5A_02 Name=GATA-1 Name=4 NA rs34615361 0.0027 0.0027 0.005 0.00339457 0.0089 NA 0.0043 0.0008 0.0041 0.01 NA 0.0028 0.002 0.0055 0.011 0.31 T 0.017 B 0.011 B 0.919 N 1.000 N 0.895 L -2.31 D -0.764 T 0.338 T 0.057 -0.719 0.911 0.432 0.149 0.271 6.022 -0.719032 NA 0.25 0.006047 0.002724 NA 0.007 NA 11.3128864 529 19 19741292 19741292 C G exonic GMIP NA nonsynonymous SNV GMIP:NM_016573:exon20:c.G2527C:p.G843R exonic ENSG00000089639 NA nonsynonymous SNV ENSG00000089639:ENST00000445806:exon19:c.G2440C:p.G814R,ENSG00000089639:ENST00000587238:exon19:c.G2449C:p.G817R,ENSG00000089639:ENST00000203556:exon20:c.G2527C:p.G843R NA NA 19p13.11 Score=948;Name=V$GATA3_01 NA Name=2 NA rs138816376 0.0032 0.0032 0.001 0.00179712 0.0089 NA NA NA NA 0.01 NA NA NA 0.0048 0.01 0.42 T 0.002 B 0.002 B 0.827 N 1.000 N 0.55 N 2.05 T -1.007 T 0.024 T 0.119 0.163 4.878 2.88 1.234 0.209 7.437 0.163143 NA 0.48 0.007558 0.002043 NA NA NA 11.3120754 529 3 44692564 44692564 C G exonic ZNF35 NA nonsynonymous SNV ZNF35:NM_003420:exon2:c.C5G:p.T2S exonic ENSG00000169981 NA nonsynonymous SNV ENSG00000169981:ENST00000296092:exon2:c.C5G:p.T2S,ENSG00000169981:ENST00000396056:exon2:c.C5G:p.T2S,ENSG00000169981:ENST00000399560:exon2:c.C5G:p.T2S,ENSG00000169981:ENST00000415571:exon2:c.C5G:p.T2S,ENSG00000169981:ENST00000432115:exon2:c.C5G:p.T2S,ENSG00000169981:ENST00000453164:exon2:c.C5G:p.T2S Score=333;Name=lod=30 NA 3p21.31 NA NA NA NA rs2272044 0.31 0.31 0.275 0.315296 0.1402 0.7907 0.2983 0.0076 0.4335 0.15 0.81 0.27 0.01 0.2404 0.81 0 D 0.779 P 0.191 B . . 0.000 P 0.805 L 2.78 T -1.167 T 0.000 T 0.133 3.725 18.92 4.08 2.298 0.427 12.070 3.725294 3.725294 0 0.141977 0.038584 NA 0.159 NA 11.3107564 529 19 39876646 39876646 A G exonic PAF1 NA nonsynonymous SNV PAF1:NM_001256826:exon13:c.T1367C:p.I456T exonic ENSG00000006712 NA nonsynonymous SNV ENSG00000006712:ENST00000221266:exon12:c.T1298C:p.I433T,ENSG00000006712:ENST00000595564:exon13:c.T1367C:p.I456T Score=506;Name=lod=152 NA 19q13.2 Score=904;Name=V$MEIS1_01 NA NA NA rs145242944 0.0032 0.0032 0.003 0.00439297 0.005 NA 0.0086 NA 0.0112 0.01 NA 0.01 NA 0.0094 0.011 0 D 0.0 B 0.0 B . . 1.000 D . . . . -0.997 T 0.081 T . 0.761 8.028 -0.145 -0.060 0.074 0.942 0.761049 NA NA 0.011163 0.004766 NA NA NA 11.3077704 529 1 247267274 247267274 C A exonic ZNF669 NA nonsynonymous SNV ZNF669:NM_024804:exon1:c.G228T:p.E76D exonic ENSG00000188295 NA nonsynonymous SNV ENSG00000188295:ENST00000343381:exon1:c.G228T:p.E76D,ENSG00000188295:ENST00000358785:exon1:c.G228T:p.E76D,ENSG00000188295:ENST00000476158:exon1:c.G228T:p.E76D Score=259;Name=lod=15 NA 1q44 NA Name=PAX5-C20,GABP,TAF1,ETS1 Name=7 NA rs4925692 0.22 0.22 0.205 0.251597 0.332 0.123 0.2925 0.1172 0.454 0.33 0.12 0.3 0.12 0.3883 0.33 0.49 T 0.88 P 0.636 P . . 0.000 P 0.55 N 4.79 T -0.934 T 0.000 T 0.123 2.759 15.19 0.342 0.392 -1.229 2.763 2.758708 2.758708 0.22 0.305386 0.145433 NA 0.21 NA 11.3076474 529 11 66282095 66282095 G A exonic BBS1 NA synonymous SNV BBS1:NM_024649:exon4:c.G378A:p.L126L exonic ENSG00000174483,ENSG00000256349 NA nonsynonymous SNV ENSG00000174483:ENST00000537537:exon3:c.G89A:p.C30Y Score=503;Name=lod=147 NA 11q13.2 Score=855;Name=V$RORA2_01 NA NA NA rs2298806 0.23 0.23 0.204 0.211661 0.2396 0.3036 0.1614 0.1475 0.2106 0.26 0.3 0.2 0.12 0.2233 0.3 1 T . . . . . . 0.000 P . . -2.04 D -1.089 T 0.000 T . 0.826 8.328 2.16 0.261 1.113 4.619 0.825914 NA 0 0.230617 0.133182 ID=COSM147274;OCCURENCE=1(stomach) 0.203 NA 11.306483 529 2 86317012 86317012 C G exonic POLR1A NA nonsynonymous SNV POLR1A:NM_015425:exon4:c.G473C:p.R158P exonic ENSG00000068654 NA nonsynonymous SNV ENSG00000068654:ENST00000409024:exon2:c.G118C:p.G40R,ENSG00000068654:ENST00000424089:exon2:c.G118C:p.G40R,ENSG00000068654:ENST00000263857:exon4:c.G473C:p.R158P,ENSG00000068654:ENST00000409681:exon4:c.G473C:p.R158P Score=412;Name=lod=63 NA 2p11.2 NA NA NA NA rs146078741 0.01 0.01 0.003 0.00479233 0.0119 NA 0.0173 NA NA 0.01 NA 0.02 NA 0.0069 0.02 0.27 T 0.802 P 0.579 P 0.048 N 0.932 N 0.695 N 1.95 T -1.100 T 0.022 T 0.271 0.011 4.071 4.04 0.911 1.894 7.185 0.011112 NA 0.09 0.009009 0.001867 NA 0.007 NA 11.3055244 530 3 12861608 12861608 G A exonic CAND2 NA nonsynonymous SNV CAND2:NM_012298:exon9:c.G2689A:p.V897I,CAND2:NM_001162499:exon11:c.G2968A:p.V990I exonic ENSG00000144712 NA nonsynonymous SNV ENSG00000144712:ENST00000295989:exon9:c.G2689A:p.V897I,ENSG00000144712:ENST00000456430:exon11:c.G2968A:p.V990I Score=366;Name=lod=41 NA 3p25.2 NA NA NA NA rs3817121 0.14 0.14 0.099 0.13758 0.174 0.1151 0.2911 0.0257 0.1656 0.16 0.12 0.29 0.04 0.1795 0.29 0.15 T 0.821 P 0.288 B 0.004 N 0.000 P 1.755 L 1.8 T -0.958 T 0.000 T 0.244 3.887 19.76 5.09 2.391 5.587 15.982 3.88669 3.88669 0.05 0.174994 0.033765 NA 0.152 NA 11.3048394 530 2 75879359 75879359 G A exonic MRPL19 NA nonsynonymous SNV MRPL19:NM_014763:exon3:c.G313A:p.V105I exonic ENSG00000115364 NA nonsynonymous SNV ENSG00000115364:ENST00000476622:exon2:c.G19A:p.V7I,ENSG00000115364:ENST00000358788:exon3:c.G313A:p.V105I,ENSG00000115364:ENST00000393909:exon3:c.G313A:p.V105I,ENSG00000115364:ENST00000409374:exon3:c.G313A:p.V105I Score=576;Name=lod=293 NA 2p12 NA NA NA NA rs41382847 0.01 0.01 0.003 0.00698882 0.0149 NA 0.0115 0.0008 0.0112 0.01 NA 0.01 NA 0.0064 0.011 0.23 T 0.049 B 0.139 B 0.006 N 1.000 D 2.1 M . . -0.902 T 0.160 T 0.053 1.877 12.24 -0.463 -0.205 2.018 10.753 1.877138 1.877138 0.4 0.009118 0.000829 NA 0.007 NA 11.3029154 530 16 31343005 31343005 C T exonic ITGAM NA nonsynonymous SNV ITGAM:NM_000632:exon30:c.C3436T:p.P1146S,ITGAM:NM_001145808:exon30:c.C3439T:p.P1147S exonic ENSG00000169896 NA nonsynonymous SNV ENSG00000169896:ENST00000287497:exon30:c.C3436T:p.P1146S,ENSG00000169896:ENST00000544665:exon30:c.C3439T:p.P1147S NA NA 16p11.2 NA NA Name=12 NA rs1143678 0.13 0.13 0.115 0.169529 0.1809 0.0278 0.1282 0.2194 0.2658 0.18 0.0017 0.13 0.18 0.1989 0.19 0.17 T 0.722 P 0.231 B . . 1.000 P 1.59 L 0.29 T -1.099 T 0.000 T 0.072 1.521 11.04 3.25 1.075 1.952 7.047 1.52136 1.52136 0.12 0.152859 0.193689 NA 0.138 NA 11.3006744 530 8 97614661 97614661 T A exonic SDC2 NA nonsynonymous SNV SDC2:NM_002998:exon3:c.T211A:p.S71T exonic ENSG00000169439 NA nonsynonymous SNV ENSG00000169439:ENST00000518385:exon2:c.T103A:p.S35T,ENSG00000169439:ENST00000302190:exon3:c.T211A:p.S71T,ENSG00000169439:ENST00000519914:exon3:c.T124A:p.S42T,ENSG00000169439:ENST00000521590:exon3:c.T124A:p.S42T,ENSG00000169439:ENST00000522911:exon3:c.T124A:p.S42T,ENSG00000169439:ENST00000523877:exon3:c.T124A:p.S42T Score=376;Name=lod=45 NA 8q22.1 NA NA NA NA rs1042381 0.22 0.22 0.228 0.235623 0.17 0.2282 0.1643 0.385 0.1595 0.16 0.22 0.17 0.34 0.1849 0.38 0.59 T 0.722 P 0.393 B 0.009 N 0.024 P 1.78 L 1.02 T -0.947 T 0.000 T 0.302 2.793 15.3 3.79 2.025 2.297 6.651 2.793196 2.793196 0.52 0.182326 0.379936 ID=COSM150509;OCCURENCE=1(stomach) 0.377 NA 11.2961074 531 3 196807928 196807928 A C exonic DLG1 NA nonsynonymous SNV DLG1:NM_001204387:exon13:c.T1650G:p.D550E,DLG1:NM_001204388:exon13:c.T1650G:p.D550E,DLG1:NM_001204386:exon17:c.T1899G:p.D633E,DLG1:NM_001098424:exon18:c.T1998G:p.D666E,DLG1:NM_004087:exon18:c.T1998G:p.D666E exonic ENSG00000075711 NA nonsynonymous SNV ENSG00000075711:ENST00000443183:exon13:c.T1650G:p.D550E,ENSG00000075711:ENST00000452595:exon13:c.T1650G:p.D550E,ENSG00000075711:ENST00000422288:exon15:c.T1845G:p.D615E,ENSG00000075711:ENST00000314062:exon16:c.T1845G:p.D615E,ENSG00000075711:ENST00000450955:exon16:c.T1899G:p.D633E,ENSG00000075711:ENST00000357674:exon17:c.T1899G:p.D633E,ENSG00000075711:ENST00000392382:exon17:c.T1899G:p.D633E,ENSG00000075711:ENST00000346964:exon18:c.T1998G:p.D666E,ENSG00000075711:ENST00000419354:exon18:c.T1998G:p.D666E,ENSG00000075711:ENST00000448528:exon18:c.T1998G:p.D666E Score=622;Name=lod=451 NA 3q29 NA NA NA NA rs35430440 0.01 0.01 0.006 0.00559105 0.0199 NA 0.0115 NA NA 0.02 NA 0.02 NA 0.0073 0.02 0.97 T 0.004 B 0.02 B 0.002 N 0.985 D 0 N -1.6 D -0.903 T 0.118 T 0.029 2.048 12.81 2.47 0.308 0.265 4.871 2.048386 2.048386 0.09 0.013381 0.003404 NA 0.007 NA 11.2927524 531 16 52497872 52497872 C T exonic TOX3 NA nonsynonymous SNV TOX3:NM_001080430:exon3:c.G382A:p.V128M,TOX3:NM_001146188:exon4:c.G367A:p.V123M exonic ENSG00000103460 NA nonsynonymous SNV ENSG00000103460:ENST00000219746:exon3:c.G382A:p.V128M,ENSG00000103460:ENST00000563091:exon3:c.G274A:p.V92M,ENSG00000103460:ENST00000407228:exon4:c.G367A:p.V123M Score=670;Name=lod=705 NA 16q12.1 Score=873;Name=V$YY1_01 NA NA NA rs16951186 0.05 0.05 0.062 0.0611022 0.007 NA 0.0259 0.1974 0.0204 0.01 NA 0.03 0.18 0.0254 0.19 0.23 T 0.11 B 0.004 B 0.001 N 0.862 P 1.04 L 0.94 T -1.088 T 0.000 T 0.231 0.905 8.683 4.96 1.524 0.664 15.362 0.905489 NA 0.08 0.009702 0.191623 NA 0.094 NA 11.2912314 531 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=ZBTB7A_(SC-34508),Egr-1,E2F6,USF-1 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 531 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 531 8 124448736 124448736 A G exonic WDYHV1 NA nonsynonymous SNV WDYHV1:NM_018024:exon4:c.A278G:p.N93S exonic ENSG00000156795 NA nonsynonymous SNV ENSG00000156795:ENST00000287387:exon4:c.A278G:p.N93S,ENSG00000156795:ENST00000523356:exon4:c.A278G:p.N93S,ENSG00000156795:ENST00000523984:exon4:c.A98G:p.N33S Score=540;Name=lod=208 NA 8q24.13 Score=866;Name=V$POU6F1_01 NA Name=3 NA rs7014678 0.39 0.39 0.367 0.410144 0.3111 0.5863 0.3919 0.3427 0.4346 0.31 0.57 0.38 0.28 0.3797 0.57 1 T 0.0 B 0.001 B 0.000 N 0.000 P -0.59 N 2.4 T -0.919 T 0.000 T 0.043 -0.311 2.52 3.94 0.346 1.596 4.763 -0.310888 NA 1 0.352209 0.363141 ID=COSM150532;OCCURENCE=1(stomach) 0.297 NA 11.2903244 531 19 49573438 49573438 A G exonic KCNA7 NA nonsynonymous SNV KCNA7:NM_031886:exon2:c.T1253C:p.M418T exonic ENSG00000104848 NA nonsynonymous SNV ENSG00000104848:ENST00000221444:exon2:c.T1253C:p.M418T Score=417;Name=lod=66 NA 19q13.33 Score=740;Name=V$SEF1_C NA NA NA rs1017219 0.37 0.37 0.341 0.366014 0.328 0.3353 0.3213 0.4766 0.319 0.32 0.31 0.39 0.49 0.3678 0.49 0.37 T 0.0 B 0.0 B 0.741 N 1.000 P -1.65 N -4.39 D -0.998 T 0.000 T 0.089 -0.675 1.053 3.23 1.179 0.606 11.681 -0.675176 NA 0.8 0.347558 0.45892 NA 0.543 NA 11.2899754 531 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 531 19 6452423 6452423 C T exonic SLC25A23 NA nonsynonymous SNV SLC25A23:NM_024103:exon8:c.G971A:p.R324H exonic ENSG00000125648 NA nonsynonymous SNV ENSG00000125648:ENST00000301454:exon8:c.G971A:p.R324H,ENSG00000125648:ENST00000334510:exon8:c.G971A:p.R324H,ENSG00000125648:ENST00000264088:exon9:c.G1112A:p.R371H Score=409;Name=lod=61 NA 19p13.3 Score=777;Name=V$PAX5_02 NA NA NA rs61729423 0.0041 0.0041 NA 0.00998403 0.0099 NA 0.0029 0.0008 0.0378 0.01 NA 0.0028 NA 0.0157 0.018 0.1 T 0.003 B 0.005 B 0.002 N 1.000 D 0.84 L -1.29 T -0.817 T 0.157 T 0.194 3.137 16.49 -1.06 -0.042 1.625 9.681 3.136971 3.136971 0.05 0.018488 0.002497 NA NA NA 11.2892454 531 7 5540244 5540244 A C exonic FBXL18 NA nonsynonymous SNV FBXL18:NM_024963:exon3:c.T1656G:p.N552K exonic ENSG00000155034 NA nonsynonymous SNV ENSG00000155034:ENST00000382368:exon3:c.T1656G:p.N552K,ENSG00000155034:ENST00000415009:exon3:c.T1656G:p.N552K,ENSG00000155034:ENST00000453700:exon3:c.T1656G:p.N552K Score=491;Name=lod=132 NA 7p22.1 NA NA NA NA rs33941092 0.01 0.01 0.007 0.00379393 0.0139 NA 0.0043 0.0015 NA 0.01 NA 0.01 NA 0.0121 0.02 0.33 T 0.004 B 0.006 B 0.000 D 1.000 N 0.345 N 0.88 T -1.036 T 0.044 T 0.175 2.038 12.77 3.17 0.409 3.729 11.873 2.038281 2.038281 0.11 0.019952 0.004817 NA NA NA 11.2873814 531 6 71665982 71665982 G C exonic B3GAT2 NA nonsynonymous SNV B3GAT2:NM_080742:exon1:c.C151G:p.R51G exonic ENSG00000112309 NA nonsynonymous SNV ENSG00000112309:ENST00000230053:exon1:c.C151G:p.R51G Score=336;Name=lod=31 NA 6q13 NA NA NA NA rs200678168 0.0041 0.0041 NA 0.00419329 0.0129 NA 0.0043 0.0015 0.0031 0.01 NA 0.0028 0.002 0.0154 0.018 0.22 T 0.953 P 0.588 P 0.085 N 0.596 N 1.04 L -0.14 T -1.025 T 0.110 T 0.199 0.611 7.293 2.98 0.908 1.769 10.408 0.611369 NA 0.26 0.018287 0.004176 NA NA NA 11.2867464 532 12 55688894 55688894 T G exonic OR6C6 NA nonsynonymous SNV OR6C6:NM_001005493:exon1:c.A123C:p.L41F exonic ENSG00000188324 NA nonsynonymous SNV ENSG00000188324:ENST00000358433:exon1:c.A123C:p.L41F NA NA 12q13.2 NA NA NA NA rs117851256 0.01 0.01 0.005 0.00539137 0.0199 NA 0.0043 0.0015 0.002 0.02 NA 0.0028 NA 0.013 0.02 0.03 D 0.005 B 0.014 B 0.003 N 1.000 N 2.02 M 7.42 T -0.863 T 0.001 T 0.044 -0.162 3.209 -2.14 -0.244 -5.009 1.249 -0.161999 NA 0.03 0.017674 0.003858 NA NA NA 11.2827594 532 2 98409046 98409046 G A exonic TMEM131 NA nonsynonymous SNV TMEM131:NM_015348:exon31:c.C3947T:p.P1316L exonic ENSG00000075568 NA nonsynonymous SNV ENSG00000075568:ENST00000186436:exon31:c.C3947T:p.P1316L Score=449;Name=lod=89 NA 2q11.2 Score=709;Name=V$NRSF_01 NA NA NA rs12995673 0.19 0.19 0.146 0.147165 0.3917 0.0119 0.2046 0.0522 0.1227 0.41 0.01 0.21 0.05 0.2963 0.41 0.28 T 0.004 B 0.001 B 0.464 N 0.313 P 0.69 N 2.17 T -0.923 T 0.000 T 0.063 1.742 11.78 3.94 1.505 1.805 8.894 1.741897 1.741897 0.37 0.366171 0.097057 NA 0.116 NA 11.2791624 532 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=CTCF,Rad21 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 532 3 130947435 130947435 A T exonic NEK11 NA nonsynonymous SNV NEK11:NM_001146003:exon14:c.A1463T:p.E488V,NEK11:NM_024800:exon15:c.A1463T:p.E488V exonic ENSG00000114670 NA nonsynonymous SNV ENSG00000114670:ENST00000510769:exon11:c.A1148T:p.E383V,ENSG00000114670:ENST00000412440:exon12:c.A911T:p.E304V,ENSG00000114670:ENST00000508196:exon13:c.A1463T:p.E488V,ENSG00000114670:ENST00000429253:exon14:c.A1463T:p.E488V,ENSG00000114670:ENST00000510688:exon14:c.A1463T:p.E488V,ENSG00000114670:ENST00000383366:exon15:c.A1463T:p.E488V Score=470;Name=lod=108 NA 3q22.1 NA NA NA NA rs3738000 0.48 0.48 0.465 0.49401 0.7018 0.4058 0.5879 0.1838 0.7239 0.7 0.38 0.59 0.18 0.6455 0.71 0.07 T 1.0 D 0.999 D 0.066 N 0.000 P 1.735 L -0.73 T -0.868 T 0.000 T 0.483 3.468 17.75 5.67 2.144 5.115 13.427 3.467512 3.467512 0.16 0.708372 0.259873 NA 0.471 NA 11.2776614 532 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 532 4 96106322 96106322 A G exonic UNC5C NA nonsynonymous SNV UNC5C:NM_003728:exon13:c.T2162C:p.M721T exonic ENSG00000182168 NA nonsynonymous SNV ENSG00000182168:ENST00000453304:exon13:c.T2162C:p.M721T,ENSG00000182168:ENST00000513796:exon14:c.T2219C:p.M740T Score=510;Name=lod=157 NA 4q22.3 NA NA NA NA rs2289043 0.55 0.55 0.491 0.494609 0.7147 0.5694 0.7507 0.0923 0.5532 0.72 0.6 0.72 0.09 0.6409 0.72 0.01 D 0.189 B 0.039 B 0.000 D 0.000 P 1.5 L 0.84 T -0.952 T 0.000 T 0.227 2.719 15.05 4.71 2.251 6.106 11.416 2.718955 2.718955 0.01 0.702442 0.185202 NA 0.587 NA 11.2752914 533 6 47646748 47646748 T C exonic GPR111 NA nonsynonymous SNV GPR111:NM_153839:exon5:c.T145C:p.S49P exonic ENSG00000164393 NA nonsynonymous SNV ENSG00000164393:ENST00000398742:exon3:c.T145C:p.S49P,ENSG00000164393:ENST00000296862:exon4:c.T349C:p.S117P,ENSG00000164393:ENST00000507065:exon4:c.T145C:p.S49P,ENSG00000164393:ENST00000467205:exon5:c.T145C:p.S49P NA NA 6p12.3 NA NA NA NA rs13212023 0.1 0.1 0.095 0.0664936 0.2217 NA 0.1167 0.0106 0.0153 0.23 NA 0.11 0.01 0.1377 0.23 0.04 D 0.996 D 0.898 P 0.460 N 1.000 P 0.975 L 1.83 T -1.070 T 0.073 T 0.294 2.675 14.9 2.12 0.334 0.961 5.144 2.674804 2.674804 0 0.203526 0.040499 NA 0.181 NA 11.2704074 533 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 533 11 69063476 69063476 C T exonic MYEOV NA nonsynonymous SNV MYEOV:NM_138768:exon3:c.C559T:p.R187W exonic ENSG00000172927 NA nonsynonymous SNV ENSG00000172927:ENST00000535407:exon2:c.C385T:p.R129W,ENSG00000172927:ENST00000308946:exon3:c.C559T:p.R187W,ENSG00000172927:ENST00000441339:exon3:c.C559T:p.R187W NA NA 11q13.3 NA Name=Egr-1 NA NA rs116926312 0.02 0.02 0.018 0.0327476 0.0149 0.0565 0.0216 NA 0.0787 0.01 0.06 0.01 NA 0.0273 0.06 0 D 0.0 B 0.0 B . . 1.000 N 0 N 1.77 T -1.026 T 0.003 T 0.089 -1.993 0.007 -3.43 -4.464 -0.244 1.344 -1.992693 NA 0 0.021891 0.006591 NA 0.014 NA 11.2692424 533 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 533 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,Ini1,AP-2alpha 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 533 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 534 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 534 6 32122472 32122472 C A exonic PPT2 NA nonsynonymous SNV PPT2:NM_001204103:exon2:c.C101A:p.A34E,PPT2:NM_005155:exon2:c.C101A:p.A34E,PPT2:NM_138717:exon2:c.C119A:p.A40E exonic ENSG00000221988,ENSG00000258388 NA nonsynonymous SNV ENSG00000221988:ENST00000436118:exon1:c.C101A:p.A34E,ENSG00000258388:ENST00000583227:exon1:c.C101A:p.A34E,ENSG00000221988:ENST00000324816:exon2:c.C101A:p.A34E,ENSG00000221988:ENST00000361568:exon2:c.C119A:p.A40E,ENSG00000221988:ENST00000375137:exon2:c.C101A:p.A34E,ENSG00000221988:ENST00000375143:exon2:c.C101A:p.A34E,ENSG00000258388:ENST00000422437:exon2:c.C101A:p.A34E,ENSG00000221988:ENST00000424499:exon2:c.C101A:p.A34E,ENSG00000258388:ENST00000428388:exon2:c.C101A:p.A34E,ENSG00000221988:ENST00000445576:exon2:c.C101A:p.A34E,ENSG00000258388:ENST00000585246:exon2:c.C101A:p.A34E,ENSG00000221988:ENST00000395523:exon3:c.C101A:p.A34E,ENSG00000221988:ENST00000414204:exon3:c.C101A:p.A34E NA NA 6p21.32 NA Name=GATA2_(CG2-96),Pol2,CTCF,E2F6_(H-50),E2F6,HDAC2_(SC-6296),TCF12,Pol2-4H8,CTCF_(SC-5916),TAF1,HMGN3,CTCF_(C-20),ETS1,ELF1_(SC-631),HEY1,TAL1_(SC-12984),IRF1,c-Myc,Rad21,YY1_(C-20),Max,Sin3Ak-20,THAP1_(SC-98174),ZBTB7A_(SC-34508),YY1,Egr-1,TBP,CCNT2,Pol2(b),SMC3_(ab9263),CTCFL_(SC-98982),ZNF263 Name=114 NA rs3096696 0.14 0.14 0.163 0.15595 0.2018 0.0377 0.1023 0.2103 0.1953 0.2 0.04 0.09 0.21 0.1588 0.21 1 T 0.491 P 0.133 B 0.929 N 0.984 P 0.345 N 1.42 T -0.728 T 0.303 T 0.229 1.505 10.98 2.61 1.107 0.937 6.931 1.504887 1.504887 0.25 0.211119 0.190318 NA 0.181 NA 11.2616144 534 5 140530718 140530718 G T exonic PCDHB6 NA nonsynonymous SNV PCDHB6:NM_018939:exon1:c.G880T:p.A294S exonic ENSG00000113211 NA nonsynonymous SNV ENSG00000113211:ENST00000231136:exon1:c.G880T:p.A294S,ENSG00000113211:ENST00000543635:exon2:c.G472T:p.A158S NA NA 5q31.3 Score=894;Name=V$FOXJ2_01 Name=JunD NA NA rs35620136 0.01 0.01 0.009 0.0241613 0.0209 NA 0.0086 NA 0.0961 0.02 NA 0.01 NA 0.03 0.033 0.56 T 0.029 B 0.042 B . . 1.000 N -0.845 N 5.2 T -0.916 T 0.001 T 0.051 -0.377 2.229 -4.79 -0.768 -4.787 7.416 -0.376586 NA 0.39 0.023721 0.004539 NA 0.022 NA 11.2587124 534 14 22134018 22134018 C T exonic OR4E2 NA nonsynonymous SNV OR4E2:NM_001001912:exon1:c.C722T:p.S241L exonic ENSG00000221977 NA nonsynonymous SNV ENSG00000221977:ENST00000408935:exon1:c.C722T:p.S241L Score=432;Name=lod=76 NA 14q11.2 Score=832;Name=V$SREBP1_02 NA NA NA rs61732411 0.14 0.14 0.143 0.139577 0.2038 0.005 0.1628 0.2526 0.0429 0.19 0.0035 0.16 0.22 0.1647 0.23 0.06 T 0.497 P 0.16 B 0.119 U 0.971 P 1.855 L 1.29 T -1.063 T 0.000 T 0.198 1.928 12.41 4.79 1.534 0.099 13.030 1.928415 1.928415 0.01 0.207108 0.234949 NA 0.138 NA 11.2577254 534 17 39967442 39967442 T C exonic LEPREL4 NA nonsynonymous SNV LEPREL4:NM_006455:exon2:c.A557G:p.Q186R exonic ENSG00000141696 NA nonsynonymous SNV ENSG00000141696:ENST00000393928:exon2:c.A557G:p.Q186R,ENSG00000141696:ENST00000355468:exon3:c.A557G:p.Q186R Score=561;Name=lod=253 NA 17q21.2 NA Name=ZNF263 Name=4 NA rs13412 0.38 0.38 0.356 0.369209 0.3509 0.4544 0.451 0.2322 0.4274 0.35 0.5 0.44 0.25 0.3741 0.5 0.72 T 0.0 B 0.0 B 0.000 N 1.000 P -0.795 N 1.3 T -0.919 T 0.000 T 0.014 0.438 6.38 2.89 0.264 1.862 4.501 0.438174 NA 0.19 0.352442 0.254653 NA 0.297 NA 11.2558914 535 1 2526746 2526746 A G exonic MMEL1 NA nonsynonymous SNV MMEL1:NM_033467:exon16:c.T1553C:p.M518T exonic ENSG00000142606 NA nonsynonymous SNV ENSG00000142606:ENST00000502556:exon11:c.T1082C:p.M361T,ENSG00000142606:ENST00000504800:exon15:c.T1553C:p.M518T,ENSG00000142606:ENST00000288709:exon16:c.T1526C:p.M509T,ENSG00000142606:ENST00000378412:exon16:c.T1553C:p.M518T NA Name=Celiac disease 1p36.32 NA NA NA NA rs3748816 0.48 0.48 0.47 0.541334 0.332 0.5407 0.487 0.7284 0.5429 0.33 0.49 0.46 0.71 0.4142 0.71 0.77 T 0.0 B 0.0 B 0.090 N 1.000 P -1.495 N -1.51 D -1.028 T 0.000 T 0.038 -2.756 0 -5.48 -1.671 -3.199 2.161 -2.755514 NA 0.6 0.336279 0.681344 NA 0.522 NA 11.2508544 535 7 97852399 97852399 G A exonic TECPR1 NA nonsynonymous SNV TECPR1:NM_015395:exon21:c.C2831T:p.P944L exonic ENSG00000205356 NA nonsynonymous SNV ENSG00000205356:ENST00000379795:exon21:c.C2837T:p.P946L,ENSG00000205356:ENST00000447648:exon21:c.C2831T:p.P944L Score=289;Name=lod=20 NA 7q21.3 NA NA NA NA rs11762014 0.24 0.24 0.219 0.214257 0.1889 0.2609 0.2896 0.2368 0.1084 0.2 0.26 0.25 0.27 0.2383 0.27 0.47 T 0.663 P 0.036 B 0.010 N 0.000 P 1.245 L 1.55 T -0.953 T 0.000 T 0.085 0.412 6.236 4.05 2.561 1.236 12.353 0.411705 NA 0.26 0.155604 0.19476 ID=COSM453635;OCCURENCE=1(breast) 0.152 NA 11.2505294 535 1 203455902 203455902 A C exonic PRELP NA nonsynonymous SNV PRELP:NM_002725:exon3:c.A1042C:p.N348H,PRELP:NM_201348:exon3:c.A1042C:p.N348H exonic ENSG00000188783 NA nonsynonymous SNV ENSG00000188783:ENST00000343110:exon3:c.A1042C:p.N348H Score=521;Name=lod=174 NA 1q32.1 Score=836;Name=V$ARNT_01 NA NA NA rs9439 0.01 0.01 0.018 0.00938498 0.0328 NA 0.0115 0.003 0.002 0.03 NA 0.01 0.01 0.02 0.03 0.6 T 0.001 B 0.003 B 0.516 N 0.994 N 0.855 L 3.54 T -0.915 T 0.005 T 0.029 1.699 11.64 4.13 0.820 1.604 6.812 1.699407 1.699407 0.5 0.030349 0.00522 NA 0.007 NA 11.2501844 535 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 535 19 9071562 9071562 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.G15884A:p.G5295E exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G15884A:p.G5295E NA NA 19p13.2 NA NA NA NA rs116866749 0.02 0.02 0.013 0.0169728 0.0298 NA 0.0375 NA 0.0297 0.03 NA 0.04 NA 0.0272 0.04 0 D 0.041 B 0.004 B . . . . 0.345 N 1.95 T -1.001 T 0.006 T 0.065 -0.122 3.403 -3.88 -1.088 -2.548 0.438 -0.121812 NA 0 0.028507 0.008698 NA 0.014 NA 11.2478264 535 19 9068374 9068374 A G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.T19072C:p.S6358P exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.T19072C:p.S6358P NA NA 19p13.2 NA NA NA NA rs61732552 0.02 0.02 0.015 0.0181709 0.0298 NA 0.0403 NA 0.0337 0.03 NA 0.05 NA 0.0286 0.05 0 D 0.064 B 0.044 B . . . . 0 N 4.19 T -0.929 T 0.001 T 0.032 -0.273 2.691 -4.79 -3.689 -1.338 0.755 -0.273232 NA 0.03 0.02879 0.008421 NA 0.014 NA 11.2461434 535 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=Sin3Ak-20,HA-E2F1,YY1_(C-20),Pol2(phosphoS2),Pol2,ETS1,ZNF263,Pol2-4H8,ZBTB7A_(SC-34508),YY1,NFKB,TAF1 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 536 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 536 16 4942099 4942099 C T exonic PPL NA nonsynonymous SNV PPL:NM_002705:exon15:c.G1766A:p.R589Q exonic ENSG00000118898 NA nonsynonymous SNV ENSG00000118898:ENST00000345988:exon15:c.G1766A:p.R589Q,ENSG00000118898:ENST00000590782:exon15:c.G1760A:p.R587Q Score=490;Name=lod=131 NA 16p13.3 NA NA NA NA rs1049205 0.44 0.44 0.435 0.39976 0.5388 0.6399 0.4654 0.034 0.4571 0.54 0.65 0.45 0.05 0.502 0.65 0.56 T 0.76 P 0.115 B 0.000 D 0.046 P 1.39 L 1.25 T -0.954 T 0.000 T 0.122 2.534 14.43 5.35 2.519 5.278 6.972 2.534249 2.534249 0.38 0.552791 0.11675 ID=COSM435328;OCCURENCE=1(breast) 0.522 NA 11.2397424 536 19 17450016 17450016 T C exonic GTPBP3 NA nonsynonymous SNV GTPBP3:NM_133644:exon5:c.T845C:p.V282A,GTPBP3:NM_001128855:exon6:c.T749C:p.V250A,GTPBP3:NM_001195422:exon6:c.T815C:p.V272A,GTPBP3:NM_032620:exon6:c.T749C:p.V250A exonic ENSG00000130299 NA nonsynonymous SNV ENSG00000130299:ENST00000358792:exon5:c.T845C:p.V282A,ENSG00000130299:ENST00000594018:exon5:c.T676C:p.C226R,ENSG00000130299:ENST00000598493:exon5:c.T448C:p.C150R,ENSG00000130299:ENST00000324894:exon6:c.T749C:p.V250A,ENSG00000130299:ENST00000361619:exon6:c.T815C:p.V272A,ENSG00000130299:ENST00000600625:exon6:c.T749C:p.V250A Score=445;Name=lod=86 NA 19p13.11 NA Name=Egr-1 Name=23 NA rs3810206 0.6 0.6 0.61 0.622404 0.7217 0.2907 0.487 0.8669 0.6278 0.73 0.23 0.53 0.86 0.6645 0.86 0.29 T 0.01 B 0.028 B 0.000 N 0.666 P 0.51 N 1.54 T -1.045 T 0.000 T 0.062 0.213 5.15 3.76 1.021 1.929 6.120 0.213328 NA 0.5 0.707674 0.852474 NA 0.667 NA 11.2394594 536 19 14910210 14910210 C G exonic OR7C1 NA nonsynonymous SNV OR7C1:NM_198944:exon1:c.G739C:p.V247L exonic ENSG00000127530 NA nonsynonymous SNV ENSG00000127530:ENST00000248073:exon1:c.G739C:p.V247L NA NA 19p13.12 NA NA NA NA rs73004304 0.17 0.17 0.155 0.172923 0.2137 0.0486 0.2089 0.2337 0.1513 0.22 0.03 0.21 0.22 0.1798 0.24 0 D 0.971 D 0.777 P 0.007 U 1.000 P 3.95 H 8.53 T -0.976 T 0.000 T 0.072 2.731 15.09 1.43 0.335 1.003 7.014 2.73131 2.73131 0 0.201512 0.24217 NA 0.21 NA 11.2383214 536 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 537 19 6913707 6913707 C T exonic EMR1 NA nonsynonymous SNV EMR1:NM_001256254:exon8:c.C743T:p.T248M,EMR1:NM_001256255:exon8:c.C635T:p.T212M,EMR1:NM_001256252:exon10:c.C1010T:p.T337M,EMR1:NM_001256253:exon11:c.C1166T:p.T389M,EMR1:NM_001974:exon11:c.C1166T:p.T389M exonic ENSG00000174837 NA nonsynonymous SNV ENSG00000174837:ENST00000381407:exon8:c.C743T:p.T248M,ENSG00000174837:ENST00000450315:exon8:c.C635T:p.T212M,ENSG00000174837:ENST00000595026:exon8:c.C917T:p.T306M,ENSG00000174837:ENST00000381404:exon10:c.C1010T:p.T337M,ENSG00000174837:ENST00000250572:exon11:c.C1166T:p.T389M,ENSG00000174837:ENST00000312053:exon11:c.C1166T:p.T389M NA NA 19p13.2 NA NA NA NA rs466876 0.13 0.13 0.124 0.140775 0.1948 0.004 0.196 0.177 0.138 0.19 0.0035 0.19 0.13 0.1817 0.22 0.11 T 0.992 D 0.759 P . . 1.000 P 2.125 M 0.35 T -0.902 T 0.000 T 0.212 1.46 10.83 -9.66 -1.890 -0.390 4.571 1.459854 1.459854 0.05 0.222209 0.16818 NA 0.138 NA 11.2346244 537 2 166535883 166535883 G C exonic CSRNP3 NA nonsynonymous SNV CSRNP3:NM_024969:exon5:c.G1378C:p.V460L,CSRNP3:NM_001172173:exon7:c.G1378C:p.V460L exonic ENSG00000178662 NA nonsynonymous SNV ENSG00000178662:ENST00000342316:exon5:c.G1378C:p.V460L,ENSG00000178662:ENST00000409420:exon5:c.G1474C:p.V492L,ENSG00000178662:ENST00000314499:exon7:c.G1378C:p.V460L Score=559;Name=lod=249 NA 2q24.3 Score=849;Name=V$ISRE_01 NA NA NA rs61738743 0.05 0.05 0.049 0.0373403 0.0398 NA 0.0432 0.0787 0.0133 0.04 NA 0.05 0.1 0.0288 0.1 . . 0.022 B 0.015 B 0.033 N 0.064 P 0.805 L 0.77 T -1.070 T 0.003 T 0.305 2.695 14.97 4.09 0.829 4.282 12.128 2.695078 2.695078 0.19 0.031047 0.064004 NA 0.058 NA 11.2336864 537 1 27677409 27677409 G A exonic SYTL1 NA nonsynonymous SNV SYTL1:NM_001193308:exon11:c.G1130A:p.G377D,SYTL1:NM_032872:exon11:c.G1094A:p.G365D exonic ENSG00000142765 NA nonsynonymous SNV ENSG00000142765:ENST00000543823:exon10:c.G1130A:p.G377D,ENSG00000142765:ENST00000318074:exon11:c.G1094A:p.G365D Score=577;Name=lod=294 NA 1p36.11 NA Name=USF-1,Max,ZNF263 Name=6 NA rs113120872 0.02 0.02 0.016 0.0157748 0.0437 NA 0.0375 0.0015 0.0072 0.04 NA 0.03 0.0041 0.021 0.04 1 T 0.0 B 0.001 B 0.525 N 1.000 N -1.1 N 3.1 T -0.944 T 0.001 T 0.26 -0.034 3.842 -2.65 -0.287 -0.818 6.109 -0.033522 NA 0.6 0.036977 0.007036 NA 0.022 NA 11.2316564 537 2 196825238 196825238 C A exonic DNAH7 NA nonsynonymous SNV DNAH7:NM_018897:exon18:c.G2637T:p.M879I exonic ENSG00000118997 NA nonsynonymous SNV ENSG00000118997:ENST00000312428:exon18:c.G2637T:p.M879I NA NA 2q32.3 NA NA NA NA rs75001760 0.02 0.02 0.016 0.0123802 0.0348 NA 0.0202 0.003 0.0092 0.03 NA 0.02 0.01 0.0296 0.039 0.16 T 0.001 B 0.006 B 0.002 N 1.000 D 1.535 L 0.16 T -1.032 T 0.045 T 0.117 -0.018 3.922 4.75 1.347 2.392 11.374 -0.017861 NA 0.22 0.03892 0.007742 NA 0.014 NA 11.2300134 537 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$NFKB_C Name=NFKB NA NA rs1060878 0.29 0.29 0.263 0.310703 0.3837 0.1587 0.2839 0.2973 0.4294 0.38 0.17 0.28 0.32 0.3511 0.39 . . 0.0 B 0.001 B 0.003 N 1.000 P -2.56 N 1.91 T -0.949 T 0.000 T 0.155 -0.907 0.424 3.81 0.329 1.555 4.512 -0.907019 NA 1 0.369039 0.315168 NA 0.478 NA 11.2294944 537 1 149906413 149906413 T C exonic MTMR11 NA nonsynonymous SNV MTMR11:NM_181873:exon5:c.A259G:p.M87V,MTMR11:NM_001145862:exon6:c.A475G:p.M159V exonic ENSG00000014914 NA nonsynonymous SNV ENSG00000014914:ENST00000369140:exon5:c.A259G:p.M87V,ENSG00000014914:ENST00000361405:exon6:c.A475G:p.M159V,ENSG00000014914:ENST00000406732:exon6:c.A391G:p.M131V,ENSG00000014914:ENST00000439741:exon6:c.A475G:p.M159V Score=482;Name=lod=121 Name=Height 1q21.2 Score=821;Name=V$RFX1_02 NA NA NA rs11205303 0.26 0.26 0.246 0.228634 0.3688 0.2837 0.2637 0.0151 0.2914 0.38 0.31 0.27 0.02 0.3353 0.4 0.52 T 0.136 B 0.074 B 0.019 N 0.927 P 1.79 L -1.56 D -0.951 T 0.227 T 0.066 1.498 10.96 2.65 0.214 0.553 7.499 1.498377 1.498377 0.09 0.403837 0.086927 ID=COSM146598;OCCURENCE=1(stomach) 0.217 NA 11.2253964 538 9 399255 399255 G A exonic DOCK8 NA nonsynonymous SNV DOCK8:NM_001190458:exon24:c.G2930A:p.S977N,DOCK8:NM_001193536:exon25:c.G3026A:p.S1009N,DOCK8:NM_203447:exon26:c.G3230A:p.S1077N exonic ENSG00000107099 NA nonsynonymous SNV ENSG00000107099:ENST00000382331:exon12:c.G1136A:p.S379N,ENSG00000107099:ENST00000382329:exon13:c.G1631A:p.S544N,ENSG00000107099:ENST00000469391:exon24:c.G2930A:p.S977N,ENSG00000107099:ENST00000432829:exon26:c.G3026A:p.S1009N,ENSG00000107099:ENST00000453981:exon26:c.G3230A:p.S1077N Score=560;Name=lod=252 NA 9p24.3 Score=930;Name=V$AREB6_01 NA NA NA rs34627722 0.06 0.06 0.045 0.0611022 0.0338 NA 0.0865 0.1415 0.0256 0.04 NA 0.08 0.14 0.0444 0.14 0.48 T 0.0 B 0.001 B 0.000 N 1.000 N -0.135 N 2.12 T -0.950 T 0.000 T 0.048 2.082 12.92 3.69 0.173 4.343 7.283 2.081509 2.081509 0.21 0.032674 0.107354 NA 0.058 NA 11.2224594 538 9 124089692 124089692 C T exonic GSN NA nonsynonymous SNV GSN:NM_000177:exon13:c.C1847T:p.T616M,GSN:NM_001127662:exon13:c.C1694T:p.T565M,GSN:NM_001258029:exon13:c.C1745T:p.T582M,GSN:NM_001258030:exon13:c.C1718T:p.T573M,GSN:NM_198252:exon14:c.C1694T:p.T565M,GSN:NM_001127663:exon15:c.C1802T:p.T601M,GSN:NM_001127664:exon15:c.C1694T:p.T565M,GSN:NM_001127665:exon15:c.C1694T:p.T565M,GSN:NM_001127666:exon15:c.C1727T:p.T576M,GSN:NM_001127667:exon15:c.C1727T:p.T576M exonic ENSG00000148180 NA nonsynonymous SNV ENSG00000148180:ENST00000373806:exon2:c.C122T:p.T41M,ENSG00000148180:ENST00000373807:exon9:c.C1040T:p.T347M,ENSG00000148180:ENST00000373808:exon13:c.C1694T:p.T565M,ENSG00000148180:ENST00000373818:exon13:c.C1847T:p.T616M,ENSG00000148180:ENST00000545652:exon13:c.C1718T:p.T573M,ENSG00000148180:ENST00000341272:exon14:c.C1694T:p.T565M,ENSG00000148180:ENST00000394353:exon15:c.C1727T:p.T576M,ENSG00000148180:ENST00000412819:exon15:c.C1694T:p.T565M,ENSG00000148180:ENST00000436847:exon15:c.C1727T:p.T576M,ENSG00000148180:ENST00000449733:exon15:c.C1694T:p.T565M,ENSG00000148180:ENST00000373823:exon21:c.C1694T:p.T565M NA NA 9q33.2 Score=800;Name=V$PAX5_01 NA NA NA rs76463933 0.04 0.04 0.05 0.0555112 0.0308 NA 0.0303 0.1415 0.0399 0.03 NA 0.03 0.12 0.0479 0.13 0.01 D 0.968 D 0.404 B 0.049 N 1.000 N 1.24 L 0.48 T -1.117 T 0.001 T 0.122 2.742 15.13 2.16 0.134 0.669 4.970 2.74183 2.74183 0.05 0.033496 0.126645 NA 0.043 NA 11.2211374 538 7 135269655 135269655 T C exonic NUP205 NA nonsynonymous SNV NUP205:NM_015135:exon8:c.T1118C:p.M373T exonic ENSG00000155561 NA nonsynonymous SNV ENSG00000155561:ENST00000285968:exon8:c.T1118C:p.M373T,ENSG00000155561:ENST00000440390:exon8:c.T500C:p.M167T Score=529;Name=lod=189 NA 7q33 Score=799;Name=V$OLF1_01 NA NA NA rs58392569 0.04 0.04 0.039 0.0499201 0.0457 0.0516 0.0504 0.034 0.0736 0.03 0.05 0.04 0.02 0.0418 0.05 0.47 T 0.0 B 0.0 B 0.000 N 1.000 P -1.39 N 1.6 T -1.051 T 0.004 T 0.053 0.465 6.524 3.68 0.273 2.702 10.930 0.464871 NA 0.81 0.026279 0.024739 NA NA NA 11.2195544 539 1 85029077 85029077 C T exonic CTBS NA nonsynonymous SNV CTBS:NM_004388:exon6:c.G820A:p.V274I exonic ENSG00000117151 NA nonsynonymous SNV ENSG00000117151:ENST00000370630:exon6:c.G820A:p.V274I Score=483;Name=lod=122 NA 1p22.3 NA NA NA NA rs15911 0.13 0.13 0.106 0.148163 0.2038 0.0298 0.1254 0.1082 0.2832 0.21 0.04 0.16 0.1 0.1973 0.22 0.25 T 0.489 P 0.257 B 0.000 D 0.017 P 2.74 M 3.21 T -1.041 T 0.014 T 0.039 3.404 17.5 2.56 0.271 0.705 5.745 3.403971 3.403971 0.02 0.217492 0.128065 NA 0.145 NA 11.2147414 539 16 53341803 53341803 A G exonic CHD9 NA nonsynonymous SNV CHD9:NM_025134:exon33:c.A6991G:p.T2331A exonic ENSG00000177200 NA nonsynonymous SNV ENSG00000177200:ENST00000398510:exon32:c.A6991G:p.T2331A,ENSG00000177200:ENST00000447540:exon33:c.A6994G:p.T2332A,ENSG00000177200:ENST00000564845:exon33:c.A6991G:p.T2331A,ENSG00000177200:ENST00000566029:exon33:c.A6991G:p.T2331A Score=738;Name=lod=1331 NA 16q12.2 Score=833;Name=V$TAL1BETAE47_01 NA NA NA rs61747411 0.02 0.02 0.022 0.0151757 0.0487 NA 0.0216 0.0023 0.0092 0.04 NA 0.03 0.002 0.0296 0.043 0.68 T 0.119 B 0.046 B 0.485 N 1.000 N 0 N -1.93 D -0.930 T 0.069 T 0.024 1.572 11.21 -10.3 -1.752 0.063 4.878 1.57222 1.57222 0.45 0.042456 0.003066 NA 0.014 NA 11.2125774 539 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$PAX4_04 NA NA NA rs2291343 0.68 0.68 0.64 0.629593 0.7087 0.9196 0.7421 0.2814 0.6401 0.71 0.94 0.76 0.28 0.7023 0.94 1 T 0.022 B 0.027 B 0.000 D 0.000 P 0.11 N 0.77 T -0.952 T 0.000 T 0.058 1.639 11.44 5.37 2.044 3.177 15.355 1.639132 1.639132 0.54 0.71 0.35429 NA 0.543 NA 11.2123334 539 17 17907768 17907768 C T exonic LRRC48 NA nonsynonymous SNV LRRC48:NM_001130092:exon10:c.C1091T:p.A364V,LRRC48:NM_031294:exon10:c.C1091T:p.A364V,LRRC48:NM_001130090:exon11:c.C1091T:p.A364V,LRRC48:NM_001130091:exon11:c.C1091T:p.A364V exonic ENSG00000171962 NA nonsynonymous SNV ENSG00000171962:ENST00000399182:exon10:c.C1091T:p.A364V,ENSG00000171962:ENST00000399187:exon10:c.C1091T:p.A364V,ENSG00000171962:ENST00000313838:exon11:c.C1091T:p.A364V,ENSG00000171962:ENST00000411504:exon11:c.C1091T:p.A364V,ENSG00000171962:ENST00000584166:exon11:c.C1091T:p.A364V NA NA 17p11.2 NA NA Name=6 NA rs11656629 0.02 0.02 0.012 0.0169728 0.0427 0.001 0.0173 0.003 0.0256 0.04 NA 0.02 NA 0.0426 0.04 0.27 T 0.0 B 0.001 B 0.043 N 1.000 N -0.14 N 1.02 T -1.058 T 0.013 T 0.015 1.081 9.413 -5.88 -1.976 -1.466 7.893 1.08099 NA 0.3 0.03646 0.007699 NA 0.007 NA 11.2115734 539 6 112512905 112512905 G A exonic LAMA4 NA synonymous SNV LAMA4:NM_001105206:exon6:c.C651T:p.T217T,LAMA4:NM_001105207:exon6:c.C651T:p.T217T,LAMA4:NM_002290:exon6:c.C651T:p.T217T exonic ENSG00000112769 NA synonymous SNV ENSG00000112769:ENST00000424408:exon5:c.C651T:p.T217T,ENSG00000112769:ENST00000521398:exon5:c.C651T:p.T217T,ENSG00000112769:ENST00000230538:exon6:c.C651T:p.T217T,ENSG00000112769:ENST00000389463:exon6:c.C651T:p.T217T,ENSG00000112769:ENST00000522006:exon6:c.C651T:p.T217T NA NA 6q21 Score=822;Name=V$PAX4_01 Name=CEBPB NA NA rs2072021 0.28 0.28 0.299 0.316893 0.1352 0.2619 0.1816 0.6067 0.2648 0.13 0.29 0.19 0.55 0.1982 0.55 . . . . . . . . 0.000 P . . . . -1.067 T 0.008 T . 0.451 6.451 -11.4 -4.513 -4.439 1.834 0.451378 NA NA 0.12186 0.522242 NA 0.268 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000037397.1|RCV000126546.1;CLNDSDB=.|.;CLNDSDBID=.|. 11.2114066 539 14 105405599 105405599 G C exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.C16189G:p.P5397A exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000557457:exon3:c.C1183G:p.P395A,ENSG00000185567:ENST00000333244:exon7:c.C16189G:p.P5397A Score=251;Name=lod=14 NA 14q32.33 NA NA NA NA rs3742935 0.53 0.53 0.524 0.555112 0.5338 0.4117 0.5115 0.6437 0.636 0.53 0.39 0.55 0.66 0.5452 0.67 0.79 T 0.975 D 0.672 P 0.272 U 0.987 P 1.04 L 4.95 T -1.219 T 0.000 T 0.216 2.111 13.02 4.36 2.663 1.290 11.002 2.111375 2.111375 0.16 0.543054 0.673067 ID=COSM147857,COSM1128317;OCCURENCE=1(prostate),1(stomach) 0.601 NA 11.2112794 539 2 192701407 192701407 G C exonic SDPR NA nonsynonymous SNV SDPR:NM_004657:exon2:c.C520G:p.Q174E exonic ENSG00000168497 NA nonsynonymous SNV ENSG00000168497:ENST00000304141:exon2:c.C520G:p.Q174E Score=562;Name=lod=256 NA 2q32.3 NA NA Name=21 NA rs61735649 0.04 0.04 0.042 0.0413339 0.0368 NA 0.0331 0.0923 0.0256 0.04 NA 0.05 0.1 0.04 0.12 1 T 0.0 B 0.0 B 0.000 N 1.000 N -1.935 N 0.41 T -1.024 T 0.001 T 0.006 -0.753 0.808 4.28 0.780 1.337 10.705 -0.752994 NA 1 0.046555 0.065999 NA 0.087 NA 11.2099784 539 3 130718472 130718472 G A exonic ATP2C1 NA synonymous SNV ATP2C1:NM_001199182:exon25:c.G2583A:p.K861K,ATP2C1:NM_001001486:exon26:c.G2598A:p.K866K,ATP2C1:NM_001001487:exon26:c.G2598A:p.K866K,ATP2C1:NM_001199180:exon26:c.G2700A:p.K900K,ATP2C1:NM_001199181:exon26:c.G2700A:p.K900K,ATP2C1:NM_001199183:exon26:c.G2550A:p.K850K,ATP2C1:NM_001199184:exon26:c.G2550A:p.K850K,ATP2C1:NM_001199185:exon26:c.G2598A:p.K866K,ATP2C1:NM_014382:exon26:c.G2598A:p.K866K,ATP2C1:NM_001001485:exon27:c.G2598A:p.K866K,ATP2C1:NM_001199179:exon27:c.G2598A:p.K866K exonic ENSG00000017260 NA synonymous SNV ENSG00000017260:ENST00000504381:exon25:c.G2433A:p.K811K,ENSG00000017260:ENST00000533801:exon25:c.G2583A:p.K861K,ENSG00000017260:ENST00000328560:exon26:c.G2598A:p.K866K,ENSG00000017260:ENST00000359644:exon26:c.G2598A:p.K866K,ENSG00000017260:ENST00000393221:exon26:c.G2700A:p.K900K,ENSG00000017260:ENST00000422190:exon26:c.G2598A:p.K866K,ENSG00000017260:ENST00000428331:exon26:c.G2598A:p.K866K,ENSG00000017260:ENST00000504948:exon26:c.G2550A:p.K850K,ENSG00000017260:ENST00000505330:exon26:c.G2550A:p.K850K,ENSG00000017260:ENST00000507488:exon26:c.G2550A:p.K850K,ENSG00000017260:ENST00000513801:exon26:c.G2550A:p.K850K,ENSG00000017260:ENST00000508532:exon27:c.G2598A:p.K866K,ENSG00000017260:ENST00000510168:exon27:c.G2598A:p.K866K Score=553;Name=lod=235 NA 3q22.1 NA NA NA Score=100;Name=1637225_0_+_100 rs16835513 0.12 0.12 0.088 0.114617 0.1461 0.1597 0.1527 0.0045 0.1575 0.17 0.15 0.14 0.01 0.1558 0.17 . . . . . . . . 0.000 P . . . . -1.063 T 0.000 T . 0.868 8.516 3.84 1.287 1.041 7.242 0.867692 NA NA 0.157791 0.030413 NA 0.043 NA 11.2069756 540 18 658064 658064 G C exonic C18orf56 NA nonsynonymous SNV C18orf56:NM_001012716:exon1:c.C184G:p.R62G exonic ENSG00000176912 NA nonsynonymous SNV ENSG00000176912:ENST00000323813:exon1:c.C184G:p.R62G,ENSG00000176912:ENST00000585033:exon1:c.C184G:p.R62G NA NA 18p11.32 NA Name=BAF155,Pol2(b),Pol2,HEY1 Name=148 NA rs2853533 0.3 0.3 0.303 0.339058 0.1451 0.5476 0.2176 0.3759 0.3599 0.14 0.54 0.19 0.35 0.3546 0.54 0 D 0.974 D 0.681 P . . 1.000 P 0 N 0.49 T -0.934 T 0.000 T 0.078 0.869 8.524 1.7 0.615 0.132 8.025 0.869385 NA NA 0.129747 0.344765 NA 0.268 NA 11.2038864 540 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$GR_Q6 Name=Pol2 NA NA rs6504649 0.27 0.27 0.241 0.250998 0.4006 0.0962 0.2767 0.1989 0.3088 0.41 0.09 0.32 0.23 0.3324 0.41 0 D 0.025 B 0.036 B 0.018 N 0.998 P 0.345 N 3.69 T -0.908 T 0.000 T 0.184 0.282 5.524 1.87 0.273 3.021 5.830 0.281686 NA 0.01 0.397534 0.241489 ID=COSM1384191;OCCURENCE=1(large_intestine) 0.188 CLINSIG=other;CLNDBN=Pseudoxanthoma_elasticum\x2c_modifier_of_severity_of;CLNREVSTAT=single;CLNACC=RCV000002642.2;CLNDSDB=MedGen;CLNDSDBID=C1842481 11.2027994 540 17 44109474 44109474 G A exonic KANSL1 NA nonsynonymous SNV KANSL1:NM_001193466:exon14:c.C3029T:p.P1010L,KANSL1:NM_015443:exon14:c.C3029T:p.P1010L,KANSL1:NM_001193465:exon15:c.C3026T:p.P1009L exonic ENSG00000120071 NA nonsynonymous SNV ENSG00000120071:ENST00000575318:exon12:c.C2837T:p.P946L,ENSG00000120071:ENST00000393476:exon13:c.C911T:p.P304L,ENSG00000120071:ENST00000432791:exon13:c.C3029T:p.P1010L,ENSG00000120071:ENST00000262419:exon14:c.C3029T:p.P1010L,ENSG00000120071:ENST00000572904:exon14:c.C3029T:p.P1010L,ENSG00000120071:ENST00000574590:exon14:c.C3029T:p.P1010L Score=464;Name=lod=103 NA 17q21.31 Score=831;Name=V$CEBP_C NA NA NA rs7220988 0.25 0.25 0.232 0.312899 0.3579 0.1062 0.2651 0.2186 0.6411 0.35 0.09 0.29 0.22 0.3775 0.4 0.79 T 0.0 B 0.0 B 0.031 N 0.094 P -0.55 N 1.05 T -0.943 T 0.000 T 0.053 2.474 14.23 4.63 0.995 3.997 6.901 2.47436 2.47436 0.47 0.396744 0.248071 NA 0.181 NA 11.2011894 540 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 540 12 52986187 52986187 T C exonic KRT72 NA nonsynonymous SNV KRT72:NM_001146225:exon4:c.A791G:p.Y264C,KRT72:NM_001146226:exon4:c.A791G:p.Y264C,KRT72:NM_080747:exon4:c.A791G:p.Y264C exonic ENSG00000170486 NA nonsynonymous SNV ENSG00000170486:ENST00000293745:exon4:c.A791G:p.Y264C,ENSG00000170486:ENST00000354310:exon4:c.A791G:p.Y264C,ENSG00000170486:ENST00000537672:exon4:c.A791G:p.Y264C,ENSG00000170486:ENST00000398066:exon5:c.A227G:p.Y76C Score=435;Name=lod=78 NA 12q13.13 NA NA NA NA rs12833456 0.36 0.36 0.355 0.372804 0.3638 0.5675 0.2406 0.1914 0.5204 0.38 0.54 0.23 0.21 0.387 0.54 0.01 D 0.013 B 0.098 B 0.120 N 0.909 P 3.635 H -2.64 D -1.035 T 0.000 T 0.435 2.244 13.46 3.67 0.914 0.153 11.078 2.243523 2.243523 0.01 0.381512 0.258284 NA 0.239 NA 11.2010214 540 7 73249165 73249165 T A exonic WBSCR27 NA nonsynonymous SNV WBSCR27:NM_152559:exon6:c.A646T:p.R216W exonic ENSG00000165171 NA nonsynonymous SNV ENSG00000165171:ENST00000297873:exon6:c.A646T:p.R216W Score=235;Name=lod=12 NA 7q11.23 NA NA Name=3 NA rs13246460 0.61 0.61 0.591 0.58107 0.7256 0.5813 0.6124 0.4629 0.5695 0.73 0.57 0.6 0.46 0.6644 0.74 0.19 T 0.973 D 0.43 B 0.372 N 0.999 P 0.69 N -0.42 T -0.964 T 0.000 T 0.162 4.463 23.8 5.25 2.013 5.701 11.668 4.463481 4.463481 0.14 0.742326 0.519746 NA 0.435 NA 11.2010074 540 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 540 1 67833527 67833527 G C exonic IL12RB2 NA nonsynonymous SNV IL12RB2:NM_001258215:exon10:c.G1278C:p.Q426H,IL12RB2:NM_001258216:exon10:c.G1278C:p.Q426H,IL12RB2:NM_001559:exon10:c.G1278C:p.Q426H,IL12RB2:NM_001258214:exon11:c.G1278C:p.Q426H exonic ENSG00000081985 NA nonsynonymous SNV ENSG00000081985:ENST00000262345:exon10:c.G1278C:p.Q426H,ENSG00000081985:ENST00000371000:exon10:c.G1278C:p.Q426H,ENSG00000081985:ENST00000544434:exon10:c.G1278C:p.Q426H,ENSG00000081985:ENST00000541374:exon11:c.G1278C:p.Q426H Score=259;Name=lod=15 NA 1p31.3 Score=801;Name=V$OCT1_04 Name=CTCF,p300 Name=80 NA rs2307145 0.04 0.04 0.041 0.038738 0.0507 NA 0.0519 0.0734 0.0102 0.04 NA 0.06 0.09 0.0386 0.09 0.13 T 0.008 B 0.065 B 0.722 N 0.883 P 1.87 L 0.38 T -1.032 T 0.069 T 0.041 0.261 5.41 1.98 0.702 0.316 5.164 0.260863 NA 0.14 0.048488 0.078529 NA 0.058 NA 11.1955454 540 5 41042204 41042204 T A exonic MROH2B NA nonsynonymous SNV MROH2B:NM_173489:exon19:c.A1943T:p.D648V exonic ENSG00000171495 NA nonsynonymous SNV ENSG00000171495:ENST00000506092:exon9:c.A608T:p.D203V,ENSG00000171495:ENST00000399564:exon19:c.A1943T:p.D648V NA NA 5p13.1 NA NA NA NA rs16870720 0.09 0.09 0.08 0.0876597 0.0189 0.2063 0.111 0.0893 0.0174 0.02 0.24 0.06 0.07 0.1016 0.24 0.28 T 0.835 P 0.531 P 0.016 N 0.462 P 1.04 L 5.19 T -0.502 T 0.000 T 0.562 0.909 8.696 5.79 2.216 2.386 12.522 0.908558 NA 0 0.017499 0.099345 NA 0.051 NA 11.1953344 540 10 69934258 69934258 C G exonic MYPN NA nonsynonymous SNV MYPN:NM_032578:exon11:c.C2409G:p.S803R,MYPN:NM_001256267:exon12:c.C2409G:p.S803R,MYPN:NM_001256268:exon15:c.C1527G:p.S509R exonic ENSG00000138347 NA nonsynonymous SNV ENSG00000138347:ENST00000354393:exon11:c.C1584G:p.S528R,ENSG00000138347:ENST00000358913:exon11:c.C2409G:p.S803R,ENSG00000138347:ENST00000540630:exon11:c.C2409G:p.S803R NA NA 10q21.3 NA NA NA NA rs3814182 0.48 0.48 0.47 0.471446 0.5666 0.3512 0.4597 0.447 0.5389 0.57 0.34 0.5 0.49 0.5205 0.57 . . 0.879 P 0.417 B 0.001 D 0.001 P 1.445 L 0.38 T -1.073 T 0.000 T 0.386 2.04 12.78 -9.63 -1.913 -3.502 19.595 2.03969 2.03969 0.09 0.55093 0.468452 NA 0.522 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000024501.2;CLNDSDB=.;CLNDSDBID=. 11.1953034 540 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 541 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$SEF1_C NA Name=16 NA rs1718119 0.31 0.31 0.334 0.322484 0.3827 0.1419 0.2003 0.4599 0.3476 0.39 0.13 0.21 0.47 0.3582 0.47 1 T 0.001 B 0.0 B 0.044 N 0.000 P -2.095 N 3.88 T -0.964 T 0.000 T 0.399 0.482 6.616 5.62 0.980 0.672 7.451 0.482145 NA 1 0.397442 0.455515 ID=COSM430526;OCCURENCE=1(breast) 0.406 NA 11.1949914 541 11 56409010 56409010 A T exonic OR5AP2 NA nonsynonymous SNV OR5AP2:NM_001002925:exon1:c.T906A:p.D302E exonic ENSG00000172464 NA nonsynonymous SNV ENSG00000172464:ENST00000302981:exon1:c.T906A:p.D302E,ENSG00000172464:ENST00000544374:exon1:c.T909A:p.D303E Score=422;Name=lod=69 NA 11q12.1 NA NA NA NA rs61747872 0.03 0.03 0.023 0.0273562 0.0417 NA 0.0389 0.003 0.0654 0.04 NA 0.05 0.01 0.0459 0.051 1 T 0.001 B 0.006 B 0.000 D 0.975 N 1.01 L 1.26 T -1.031 T 0.010 T 0.087 -0.158 3.227 4.94 2.090 -0.351 10.34 -0.158206 NA 0.34 0.050861 0.00886 NA 0.007 NA 11.1948724 541 2 220420785 220420785 G A exonic OBSL1 NA synonymous SNV OBSL1:NM_001173431:exon14:c.C4566T:p.C1522C,OBSL1:NM_015311:exon14:c.C4566T:p.C1522C exonic ENSG00000124006 NA nonsynonymous SNV ENSG00000124006:ENST00000265318:exon13:c.C4166T:p.A1389V Score=599;Name=lod=361 NA 2q35 NA NA NA NA rs3087971 0.26 0.26 0.204 0.229233 0.2734 0.2837 0.2983 0.2224 0.0879 0.27 0.3 0.29 0.19 0.2548 0.3 0 D . . . . . . 0.000 P . . 0.43 T -0.959 T 0.000 T . -0.453 1.9 -6.84 -1.935 -2.148 14.848 -0.453356 NA 0 0.278369 0.223168 NA 0.145 NA 11.193431 541 19 1005230 1005230 C T exonic GRIN3B NA nonsynonymous SNV GRIN3B:NM_138690:exon3:c.C1730T:p.T577M exonic ENSG00000116032 NA nonsynonymous SNV ENSG00000116032:ENST00000234389:exon3:c.C1730T:p.T577M Score=589;Name=lod=330 NA 19p13.3 Score=800;Name=V$MYCMAX_01 Name=Pol2 NA NA rs2240158 0.33 0.33 0.324 0.345447 0.3847 0.1677 0.2493 0.5106 0.3333 0.39 0.14 0.29 0.49 0.3698 0.51 1 T 0.036 B 0.004 B 0.000 N 0.111 P -1.835 N 0.62 T -0.916 T 0.000 T 0.056 -0.209 2.989 4.53 0.618 4.157 9.111 -0.208614 NA 0.61 0.386512 0.505674 NA 0.377 NA 11.1923214 541 6 152658141 152658141 C A exonic SYNE1 NA nonsynonymous SNV SYNE1:NM_033071:exon75:c.G12150T:p.K4050N,SYNE1:NM_182961:exon76:c.G12363T:p.K4121N exonic ENSG00000131018 NA nonsynonymous SNV ENSG00000131018:ENST00000423061:exon75:c.G12150T:p.K4050N,ENSG00000131018:ENST00000265368:exon76:c.G12363T:p.K4121N,ENSG00000131018:ENST00000367255:exon76:c.G12363T:p.K4121N,ENSG00000131018:ENST00000448038:exon76:c.G12150T:p.K4050N,ENSG00000131018:ENST00000341594:exon78:c.G11958T:p.K3986N Score=410;Name=lod=62 NA 6q25.2 NA NA NA NA rs28385621 0.07 0.07 NA 0.0876597 0.0696 0.1171 0.062 0.0749 0.1115 0.05 0.12 0.06 0.06 0.0762 0.12 0.11 T 0.082 B 0.044 B 0.011 N 0.000 P 0.69 N 1.37 T -1.091 T 0.028 T 0.085 0.904 8.678 3.69 0.686 1.070 11.386 0.904487 NA 0.01 NA NA NA NA CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118440.2;CLNDSDB=.;CLNDSDBID=. 11.1875334 541 11 10673739 10673739 T C exonic MRVI1 NA nonsynonymous SNV MRVI1:NM_001098579:exon1:c.A31G:p.I11V exonic ENSG00000072952 NA nonsynonymous SNV ENSG00000072952:ENST00000421747:exon1:c.A31G:p.I11V,ENSG00000072952:ENST00000436272:exon1:c.A31G:p.I11V,ENSG00000072952:ENST00000531107:exon1:c.A31G:p.I11V Score=554;Name=lod=239 NA 11p15.4 Score=754;Name=V$MYOGNF1_01 Name=TCF4 Name=3 NA rs4909945 0.84 0.84 0.86 0.873802 0.6968 0.9692 0.8156 0.9788 0.8569 0.69 0.99 0.78 0.96 0.762 0.99 . . 0.0 B 0.001 B 0.813 N 0.000 P -0.205 N 2.87 T -1.018 T 0.000 T 0.048 -0.16 3.218 -2.56 -0.668 -1.191 11.718 -0.160191 NA 1 0.68847 0.94334 ID=COSM1350636;OCCURENCE=1(large_intestine) 0.848 NA 11.1860634 542 3 19924058 19924058 G A exonic EFHB NA nonsynonymous SNV EFHB:NM_144715:exon12:c.C2312T:p.T771I exonic ENSG00000163576 NA nonsynonymous SNV ENSG00000163576:ENST00000295824:exon12:c.C2312T:p.T771I,ENSG00000163576:ENST00000344838:exon14:c.C1922T:p.T641I Score=490;Name=lod=131 NA 3p24.3 NA NA NA NA rs76398910 0.01 0.01 0.014 0.0185703 0.0338 NA 0.0187 0.0023 0.044 0.03 NA 0.02 NA 0.062 0.053 . . 0.919 P 0.462 P 0.083 N 0.997 N 1.465 L 3.1 T -1.122 T 0.011 T 0.11 1.821 12.05 2.6 0.320 3.561 11.046 1.821397 1.821397 0.06 0.053023 0.01044 NA 0.014 NA 11.1845104 542 10 105205302 105205302 A C exonic PDCD11 NA nonsynonymous SNV PDCD11:NM_014976:exon36:c.A5612C:p.D1871A exonic ENSG00000148843 NA nonsynonymous SNV ENSG00000148843:ENST00000369797:exon36:c.A5612C:p.D1871A Score=289;Name=lod=20 NA 10q24.33 NA NA NA NA rs7831 0.34 0.34 0.337 0.375599 0.4006 0.3185 0.3775 0.2905 0.5225 0.39 0.31 0.36 0.27 0.3787 0.39 0 D 0.243 B 0.079 B 0.043 N 0.928 P 0 N 2.75 T -0.902 T 0.000 T 0.18 3.297 17.08 2.85 2.143 0.984 3.667 3.296773 3.296773 0 0.370465 0.294371 NA 0.304 NA 11.1835684 542 3 184428903 184428903 T G exonic MAGEF1 NA nonsynonymous SNV MAGEF1:NM_022149:exon1:c.A707C:p.E236A exonic ENSG00000177383 NA nonsynonymous SNV ENSG00000177383:ENST00000317897:exon1:c.A707C:p.E236A NA NA 3q27.1 NA Name=PU.1 Name=147 NA rs9872799 0.57 0.57 0.556 0.556709 0.7604 0.4365 0.4986 0.5091 0.5767 0.75 0.4 0.54 0.5 0.6446 0.75 0.26 T 0.988 D 0.926 D 0.000 D 1.000 P 1.385 L 3.48 T -0.980 T 0.000 T 0.101 2.541 14.46 -0.905 -0.213 1.259 4.218 2.540732 2.540732 0.1 0.745233 0.527916 NA 0.645 NA 11.1831004 542 17 19812541 19812541 T C exonic AKAP10 NA nonsynonymous SNV AKAP10:NM_007202:exon14:c.A1936G:p.I646V exonic ENSG00000108599 NA nonsynonymous SNV ENSG00000108599:ENST00000395536:exon13:c.A1762G:p.I588V,ENSG00000108599:ENST00000225737:exon14:c.A1936G:p.I646V Score=556;Name=lod=243 NA 17p11.2 NA NA NA NA rs203462 0.39 0.39 0.392 0.39397 0.3946 0.1895 0.4179 0.6248 0.2751 0.39 0.18 0.41 0.64 0.3737 0.64 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.085 N 2.01 T -0.969 T 0.000 T 0.245 0.428 6.323 5.88 1.505 4.154 12.685 0.427698 NA 0.87 0.383488 0.581026 NA 0.435 CLINSIG=other;CLNDBN=Cardiac_conduction_defect\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000005735.1;CLNDSDB=.;CLNDSDBID=. 11.1815454 542 19 48737706 48737706 A T exonic CARD8 NA nonsynonymous SNV CARD8:NM_001184900:exon3:c.T304A:p.F102I,CARD8:NM_001184901:exon3:c.T154A:p.F52I,CARD8:NM_001184903:exon4:c.T304A:p.F102I,CARD8:NM_014959:exon4:c.T154A:p.F52I,CARD8:NM_001184902:exon6:c.T304A:p.F102I exonic ENSG00000105483 NA stopgain ENSG00000105483:ENST00000359009:exon3:c.T30A:p.C10X NA NA 19q13.33 NA NA NA NA rs2043211 0.33 0.33 0.314 0.316494 0.332 0.5069 0.2709 0.1808 0.32 0.34 0.46 0.28 0.2 0.3264 0.46 0.05 D 0.662 P 0.05 B . . 0.000 P 0 N 2.53 T -0.928 T 0.000 T 0.064 3.187 16.67 -2.42 -2.374 -1.316 0.329 3.186927 3.186927 0 0.328953 0.208579 NA 0.275 NA 11.1793137 542 11 65403651 65403651 C A exonic PCNXL3 NA nonsynonymous SNV PCNXL3:NM_032223:exon33:c.C5466A:p.H1822Q exonic ENSG00000197136 NA nonsynonymous SNV ENSG00000197136:ENST00000355703:exon33:c.C5466A:p.H1822Q Score=426;Name=lod=72 NA 11q13.1 NA Name=E2F6_(H-50) NA NA rs7114037 0.02 0.02 0.02 0.013778 0.0497 NA 0.0187 0.0015 0.0041 0.04 NA 0.02 0.0041 0.0558 0.049 0.06 T 0.001 B 0.006 B 0.000 D 0.937 N -0.895 N 3.4 T -0.961 T 0.001 T 0.162 1.888 12.27 -3.95 -0.331 0.202 4.019 1.887915 1.887915 0.03 0.048743 0.009314 NA 0.058 NA 11.1790904 542 14 91642395 91642395 G A exonic C14orf159 NA nonsynonymous SNV C14orf159:NM_001102368:exon7:c.G725A:p.S242N,C14orf159:NM_024952:exon7:c.G710A:p.S237N,C14orf159:NM_001102367:exon8:c.G710A:p.S237N,C14orf159:NM_001102366:exon9:c.G710A:p.S237N,C14orf159:NM_001102369:exon9:c.G674A:p.S225N exonic ENSG00000133943 NA nonsynonymous SNV ENSG00000133943:ENST00000256324:exon7:c.G725A:p.S242N,ENSG00000133943:ENST00000428926:exon7:c.G710A:p.S237N,ENSG00000133943:ENST00000523771:exon7:c.G710A:p.S237N,ENSG00000133943:ENST00000412671:exon8:c.G725A:p.S242N,ENSG00000133943:ENST00000517518:exon8:c.G725A:p.S242N,ENSG00000133943:ENST00000522322:exon8:c.G710A:p.S237N,ENSG00000133943:ENST00000525393:exon8:c.G338A:p.S113N,ENSG00000133943:ENST00000520328:exon9:c.G674A:p.S225N,ENSG00000133943:ENST00000521077:exon9:c.G725A:p.S242N,ENSG00000133943:ENST00000523816:exon9:c.G710A:p.S237N,ENSG00000133943:ENST00000518868:exon10:c.G725A:p.S242N Score=401;Name=lod=57 NA 14q32.11 NA NA NA NA rs34302825 0.02 0.02 0.016 0.0249601 0.0557 NA 0.0461 0.0015 0.0358 0.05 NA 0.04 NA 0.0439 0.056 0.22 T 0.111 B 0.099 B 0.000 D 1.000 N 1.045 L 0.94 T -1.074 T 0.010 T 0.068 0.899 8.652 2.01 0.190 1.774 7.676 0.898523 NA 0.07 0.056047 0.010213 NA 0.022 NA 11.1776864 542 7 64439613 64439613 T G exonic ZNF117 NA nonsynonymous SNV ZNF117:NM_015852:exon4:c.A336C:p.K112N exonic ENSG00000152926 NA nonsynonymous SNV ENSG00000152926:ENST00000282869:exon4:c.A336C:p.K112N NA NA 7q11.21 NA Name=ZNF274 NA NA rs3807068 0.39 0.39 0.389 0.387181 0.4016 0.4058 0.2637 0.3964 0.4284 0.42 0.39 0.32 0.4 0.3784 0.42 0.35 T 0.996 D 0.979 D . . 1.000 P 1.13 L 5.17 T -0.909 T 0.000 T 0.024 0.879 8.568 -2.31 -0.188 -6.380 4.72 0.879357 NA 0.24 0.376623 0.374459 NA 0.37 NA 11.1767104 542 17 3486702 3486702 G A exonic TRPV1 NA nonsynonymous SNV TRPV1:NM_080706:exon8:c.C1406T:p.T469I,TRPV1:NM_018727:exon9:c.C1406T:p.T469I,TRPV1:NM_080705:exon9:c.C1406T:p.T469I,TRPV1:NM_080704:exon10:c.C1406T:p.T469I exonic ENSG00000196689,ENSG00000262304 NA nonsynonymous SNV ENSG00000196689:ENST00000310522:exon7:c.C1226T:p.T409I,ENSG00000196689:ENST00000174621:exon8:c.C1400T:p.T467I,ENSG00000196689:ENST00000399756:exon8:c.C1406T:p.T469I,ENSG00000196689:ENST00000576351:exon8:c.C1376T:p.T459I,ENSG00000196689:ENST00000399759:exon9:c.C1406T:p.T469I,ENSG00000196689:ENST00000425167:exon9:c.C1439T:p.T480I,ENSG00000196689:ENST00000571088:exon9:c.C1406T:p.T469I,ENSG00000262304:ENST00000572705:exon10:c.C1406T:p.T469I NA NA 17p13.2 NA NA NA NA rs224534 0.4 0.4 0.365 0.377995 0.3718 0.7679 0.353 0.0378 0.4601 0.38 0.75 0.38 0.05 0.4423 0.75 0.14 T 0.44 B 0.123 B 0.117 N 1.000 P 2.05 M -2.88 D -0.886 T 0.000 T 0.611 0.237 5.282 4.12 1.225 2.864 3.733 0.237389 NA 0.04 0.343569 0.085168 NA 0.246 NA 11.1756644 543 4 126412891 126412891 C T exonic FAT4 NA nonsynonymous SNV FAT4:NM_024582:exon17:c.C14914T:p.P4972S exonic ENSG00000196159 NA nonsynonymous SNV ENSG00000196159:ENST00000335110:exon15:c.C9637T:p.P3213S,ENSG00000196159:ENST00000394329:exon17:c.C14914T:p.P4972S Score=352;Name=lod=36 NA 4q28.1 Score=868;Name=V$SRF_Q6 NA NA NA rs1014867 0.07 0.07 0.067 0.0537141 0.0537 0.0605 0.0317 0.0719 0.0378 0.05 0.08 0.03 0.09 0.0543 0.09 0.23 T 0.001 B 0.002 B 0.330 U 1.000 P 0.46 N -0.69 T -1.012 T 0.011 T 0.052 -0.238 2.852 2.84 1.057 0.675 7.345 -0.238153 NA 0.57 0.052674 0.049705 NA 0.072 NA 11.1726594 543 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 543 11 59612859 59612859 T C exonic GIF NA nonsynonymous SNV GIF:NM_005142:exon1:c.A68G:p.Q23R exonic ENSG00000134812 NA nonsynonymous SNV ENSG00000134812:ENST00000257248:exon1:c.A68G:p.Q23R,ENSG00000134812:ENST00000525058:exon1:c.A68G:p.Q23R NA NA 11q12.1 NA NA NA NA rs35211634 0.08 0.08 0.083 0.102636 0.0567 0.0417 0.0331 0.2716 0.0337 0.06 0.02 0.03 0.24 0.0607 0.24 0.64 T 0.0 B 0.001 B 0.841 N 1.000 P -0.92 N 1.35 T -0.932 T 0.000 T 0.083 -0.349 2.352 -4.43 -1.452 -2.402 14.560 -0.34863 NA 0.97 0.048079 0.196729 NA 0.087 CLINSIG=other;CLNDBN=Intrinsic_factor_deficiency\x2c_congenital\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000001812.1;CLNDSDB=.;CLNDSDBID=. 11.1678544 543 17 1373518 1373518 T C exonic MYO1C NA nonsynonymous SNV MYO1C:NM_001080779:exon24:c.A2477G:p.Q826R,MYO1C:NM_001080950:exon24:c.A2420G:p.Q807R,MYO1C:NM_033375:exon24:c.A2372G:p.Q791R exonic ENSG00000197879 NA nonsynonymous SNV ENSG00000197879:ENST00000359786:exon24:c.A2477G:p.Q826R,ENSG00000197879:ENST00000361007:exon24:c.A2372G:p.Q791R,ENSG00000197879:ENST00000438665:exon24:c.A2420G:p.Q807R,ENSG00000197879:ENST00000545534:exon24:c.A2405G:p.Q802R,ENSG00000197879:ENST00000575158:exon24:c.A2372G:p.Q791R Score=559;Name=lod=250 NA 17p13.3 Score=913;Name=V$HSF1_01 NA NA NA rs9905106 0.66 0.66 0.669 0.711661 0.7008 0.4196 0.7017 0.9183 0.7515 0.68 0.4 0.71 0.9 0.7252 0.9 0.53 T 0.0 B 0.001 B 0.000 N 1.000 P -0.345 N -2.19 D -0.953 T 0.000 T 0.087 0.345 5.871 4.95 1.334 1.400 6.334 0.344923 NA 0.49 0.74142 0.885042 ID=COSM436052;OCCURENCE=2(breast) 0.623 NA 11.1659134 544 2 171225841 171225841 A G exonic MYO3B NA nonsynonymous SNV MYO3B:NM_001083615:exon9:c.A925G:p.K309E,MYO3B:NM_138995:exon9:c.A925G:p.K309E exonic ENSG00000071909 NA nonsynonymous SNV ENSG00000071909:ENST00000317935:exon9:c.A925G:p.K309E,ENSG00000071909:ENST00000334231:exon9:c.A952G:p.K318E,ENSG00000071909:ENST00000408978:exon9:c.A925G:p.K309E,ENSG00000071909:ENST00000409044:exon9:c.A925G:p.K309E,ENSG00000071909:ENST00000484338:exon9:c.A952G:p.K318E Score=497;Name=lod=139 NA 2q31.1 NA Name=MafK_(ab50322) NA NA rs4668246 0.32 0.32 0.321 0.302516 0.4056 0.4216 0.4164 0.0756 0.2996 0.4 0.39 0.35 0.1 0.3688 0.4 1 T 0.001 B 0.003 B 0.042 N 0.955 P 0.235 N -1.09 T -0.910 T 0.000 T 0.261 0.125 4.671 3.72 1.104 2.472 7.308 0.124723 NA 0.9 0.395128 0.110658 NA 0.217 NA 11.1638054 544 2 61483548 61483548 A T exonic USP34 NA nonsynonymous SNV USP34:NM_014709:exon48:c.T6192A:p.H2064Q exonic ENSG00000115464 NA nonsynonymous SNV ENSG00000115464:ENST00000453734:exon10:c.T1026A:p.H342Q,ENSG00000115464:ENST00000398571:exon48:c.T6192A:p.H2064Q Score=666;Name=lod=678 NA 2p15 NA NA NA NA rs72811482 0.03 0.03 0.023 0.0207668 0.0726 NA 0.0274 0.003 0.0082 0.07 NA 0.04 0.01 0.0413 0.07 1 T 0.0 B 0.0 B 0.000 D 0.932 D -1.56 N 3.46 T -0.902 T 0.000 T 0.141 -0.077 3.622 0.517 -0.138 1.121 5.771 -0.077426 NA 1 0.056888 0.012603 NA 0.109 NA 11.1625454 544 14 64469828 64469828 C T exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon30:c.C4177T:p.R1393W,SYNE2:NM_182914:exon30:c.C4177T:p.R1393W exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000554584:exon29:c.C4177T:p.R1393W,ENSG00000054654:ENST00000344113:exon30:c.C4177T:p.R1393W,ENSG00000054654:ENST00000358025:exon30:c.C4177T:p.R1393W NA NA 14q23.2 NA NA NA NA rs17751301 0.03 0.03 0.026 0.0255591 0.0477 NA 0.0836 0.0038 0.0174 0.05 0.0017 0.08 0.002 0.0564 0.08 0.03 D 0.002 B 0.001 B 0.007 N 1.000 N 1.1 L 0.79 T -1.056 T 0.008 T 0.152 -0.743 0.837 -3.22 -0.605 -1.053 2.748 -0.743245 NA 0.01 0.070697 0.013236 NA 0.029 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118537.1;CLNDSDB=.;CLNDSDBID=. 11.1585364 544 11 17414570 17414570 C T exonic ABCC8 NA nonsynonymous SNV ABCC8:NM_000352:exon39:c.G4714A:p.V1572I exonic ENSG00000006071 NA nonsynonymous SNV ENSG00000006071:ENST00000302539:exon39:c.G4717A:p.V1573I,ENSG00000006071:ENST00000389817:exon39:c.G4714A:p.V1572I Score=535;Name=lod=199 NA 11p15.1 Score=751;Name=V$NRSF_01 NA NA NA rs8192690 0.03 0.03 0.033 0.0311502 0.0527 0.001 0.0331 0.0272 0.044 0.05 0.0017 0.04 0.03 0.0562 0.066 0.86 T 0.005 B 0.002 B 0.001 N 0.999 D 0.435 N -2.66 D -0.886 T 0.060 T 0.022 0.368 6 1.28 0.227 0.663 8.346 0.368388 NA 0.34 0.065921 0.035 NA 0.007 NA 11.1585124 545 14 24909475 24909475 C G exonic SDR39U1 NA nonsynonymous SNV SDR39U1:NM_020195:exon6:c.G696C:p.L232F exonic ENSG00000100445 NA nonsynonymous SNV ENSG00000100445:ENST00000399390:exon3:c.G411C:p.L137F,ENSG00000100445:ENST00000555355:exon3:c.G321C:p.L107F,ENSG00000100445:ENST00000538105:exon4:c.G450C:p.L150F,ENSG00000100445:ENST00000553343:exon4:c.G378C:p.L126F,ENSG00000100445:ENST00000554698:exon4:c.G372C:p.L124F,ENSG00000100445:ENST00000555225:exon5:c.G195C:p.L65F,ENSG00000100445:ENST00000555365:exon5:c.G195C:p.L65F,ENSG00000100445:ENST00000556523:exon5:c.G195C:p.L65F,ENSG00000100445:ENST00000399395:exon6:c.G696C:p.L232F,ENSG00000100445:ENST00000553930:exon6:c.G321C:p.L107F Score=515;Name=lod=165 NA 14q12 NA Name=Pol2 Name=8 NA rs3211056 0.8 0.8 0.763 0.765176 0.9046 0.8393 0.8516 0.4667 0.8875 0.92 0.83 0.86 0.54 0.8623 0.92 0.28 T 0.457 P 0.191 B 0.000 D 0.000 P 1.365 L 1.61 T -1.042 T 0.000 T 0.457 0.624 7.357 3.83 1.202 0.694 7.111 0.623966 NA 0.57 0.913038 0.557171 NA 0.783 NA 11.1533954 545 2 133541107 133541107 T A exonic NCKAP5 NA nonsynonymous SNV NCKAP5:NM_207363:exon14:c.A3277T:p.N1093Y exonic ENSG00000176771 NA nonsynonymous SNV ENSG00000176771:ENST00000317721:exon12:c.A3277T:p.N1093Y,ENSG00000176771:ENST00000409261:exon14:c.A3277T:p.N1093Y NA NA 2q21.2 NA NA NA NA rs16841277 0.19 0.19 0.176 0.178514 0.2256 0.251 0.1888 0.0446 0.229 0.24 0.27 0.17 0.06 0.219 0.27 0.02 D 0.969 D 0.558 P 0.662 U 1.000 P 0.55 N 2.74 T -0.912 T 0.000 T 0.091 1.718 11.7 3.01 1.086 0.514 8.714 1.718039 1.718039 0.02 0.236905 0.070105 NA 0.254 NA 11.1518284 545 6 133035098 133035098 G A exonic VNN1 NA nonsynonymous SNV VNN1:NM_004666:exon1:c.C77T:p.T26I exonic ENSG00000112299 NA nonsynonymous SNV ENSG00000112299:ENST00000367928:exon1:c.C77T:p.T26I NA NA 6q23.2 NA Name=RFX5_(N-494),CEBPB Name=24 NA rs2294757 0.52 0.52 0.514 0.573682 0.3708 0.3819 0.5735 0.8971 0.5429 0.38 0.4 0.57 0.86 0.4478 0.86 1 T 0.0 B 0.0 B 0.010 N 1.000 P -0.89 N -2.03 D -1.032 T 0.068 T 0.029 -1.33 0.032 -3.64 -1.290 0.164 8.625 -1.330392 NA 1 0.36407 0.825919 NA 0.616 NA 11.1506634 545 10 27692279 27692279 A C exonic PTCHD3 NA nonsynonymous SNV PTCHD3:NM_001034842:exon3:c.T1219G:p.C407G exonic ENSG00000182077 NA nonsynonymous SNV ENSG00000182077:ENST00000438700:exon3:c.T1219G:p.C407G NA NA 10p12.1 NA NA NA NA rs2484180 0.46 0.46 0.433 0.431909 0.3907 0.5417 0.4107 0.4228 0.3885 0.39 0.6 0.42 0.44 0.3985 0.6 0.08 T 0.257 B 0.27 B 0.012 N 1.000 P 2.135 M -1.94 D -0.891 T 0.000 T 0.188 -0.142 3.305 2.92 1.720 2.048 5.108 -0.142081 NA NA 0.395 0.458466 NA 0.42 NA 11.1491334 545 8 38095662 38095662 C T exonic DDHD2 NA nonsynonymous SNV DDHD2:NM_001164232:exon5:c.C557T:p.T186M,DDHD2:NM_001164234:exon5:c.C557T:p.T186M,DDHD2:NM_015214:exon5:c.C557T:p.T186M exonic ENSG00000085788 NA nonsynonymous SNV ENSG00000085788:ENST00000397166:exon5:c.C557T:p.T186M,ENSG00000085788:ENST00000520272:exon5:c.C557T:p.T186M,ENSG00000085788:ENST00000532222:exon5:c.C557T:p.T186M NA NA 8p11.23 NA NA NA NA rs2306899 0.22 0.22 0.211 0.171725 0.2545 0.3194 0.2392 0.0227 0.0879 0.25 0.33 0.25 0.03 0.2003 0.33 0.08 T 0.863 P 0.302 B 0.017 N 1.000 P 1.59 L 1.43 T -0.978 T 0.000 T 0.214 1.739 11.77 5.03 1.510 1.292 9.795 1.738693 1.738693 0.01 0.229884 0.067408 NA 0.203 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116873.2;CLNDSDB=.;CLNDSDBID=. 11.1486494 545 3 51895693 51895693 G A exonic IQCF2 NA nonsynonymous SNV IQCF2:NM_203424:exon1:c.G11A:p.R4Q exonic ENSG00000184345 NA nonsynonymous SNV ENSG00000184345:ENST00000333127:exon1:c.G11A:p.R4Q NA NA 3p21.2 NA NA NA NA rs114750576 0.03 0.03 0.031 0.0203674 0.0676 NA 0.0375 0.0015 0.0061 0.08 NA 0.04 0.002 0.0481 0.08 0 D 0.01 B 0.002 B 0.060 N 1.000 N 0.46 N 1.49 T -1.057 T 0.003 T 0.08 2.032 12.75 -8.26 -2.014 -3.191 3.630 2.031615 2.031615 0.28 0.069884 0.01271 NA 0.014 NA 11.1477494 545 19 49878196 49878196 G A exonic DKKL1 NA nonsynonymous SNV DKKL1:NM_001197301:exon4:c.G547A:p.E183K,DKKL1:NM_001197302:exon5:c.G415A:p.E139K,DKKL1:NM_014419:exon5:c.G640A:p.E214K exonic ENSG00000104901 NA nonsynonymous SNV ENSG00000104901:ENST00000594268:exon2:c.G214A:p.E72K,ENSG00000104901:ENST00000597546:exon4:c.G547A:p.E183K,ENSG00000104901:ENST00000221498:exon5:c.G640A:p.E214K,ENSG00000104901:ENST00000597873:exon5:c.G415A:p.E139K NA NA 19q13.33 Score=729;Name=V$PAX4_04 NA NA NA rs2288481 0.22 0.22 0.224 0.258387 0.2068 0.3264 0.2003 0.1952 0.3681 0.2 0.31 0.2 0.17 0.2498 0.31 0 D 0.573 P 0.23 B 0.127 N 1.000 P 0.975 L 2.52 T -0.913 T 0.000 T 0.142 2.425 14.07 3.09 1.320 0.384 10.030 2.424616 2.424616 0 0.230116 0.201316 NA 0.268 NA 11.1466174 545 12 54911426 54911426 C T exonic NCKAP1L NA nonsynonymous SNV NCKAP1L:NM_001184976:exon12:c.C1055T:p.S352L,NCKAP1L:NM_005337:exon12:c.C1205T:p.S402L exonic ENSG00000123338 NA nonsynonymous SNV ENSG00000123338:ENST00000293373:exon12:c.C1205T:p.S402L,ENSG00000123338:ENST00000545638:exon12:c.C1055T:p.S352L,ENSG00000123338:ENST00000548221:exon12:c.C1205T:p.S402L Score=475;Name=lod=114 NA 12q13.2 Score=887;Name=V$NFE2_01 NA NA NA rs2270581 0.07 0.07 0.068 0.076278 0.0626 0.0675 0.1225 0.0877 0.0511 0.06 0.04 0.12 0.09 0.0625 0.12 0.26 T 0.003 B 0.002 B 0.962 N 0.041 P 0.345 N 1.48 T -1.034 T 0.001 T 0.084 2.477 14.24 3.82 0.684 1.326 7.995 2.477116 2.477116 0.03 0.062442 0.105538 ID=COSM147539;OCCURENCE=1(stomach) 0.138 NA 11.1457914 545 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 546 10 117849353 117849353 T C exonic GFRA1 NA nonsynonymous SNV GFRA1:NM_145793:exon7:c.A1081G:p.T361A,GFRA1:NM_001145453:exon8:c.A1081G:p.T361A,GFRA1:NM_005264:exon9:c.A1096G:p.T366A exonic ENSG00000151892 NA nonsynonymous SNV ENSG00000151892:ENST00000544592:exon5:c.A733G:p.T245A,ENSG00000151892:ENST00000369236:exon7:c.A1081G:p.T361A,ENSG00000151892:ENST00000439649:exon8:c.A1081G:p.T361A,ENSG00000151892:ENST00000355422:exon9:c.A1096G:p.T366A,ENSG00000151892:ENST00000369234:exon9:c.A1096G:p.T366A Score=620;Name=lod=443 NA 10q25.3 NA NA NA NA rs2072276 0.12 0.12 NA 0.115216 0.0855 0.1647 0.1282 0.0809 0.1319 0.08 0.18 0.14 0.09 0.1035 0.18 0.77 T 0.372 B 0.114 B 0.000 N 0.005 P 1.7 L 1.52 T -1.052 T 0.000 T 0.116 0.234 5.264 5.04 1.151 3.743 6.794 0.234096 NA 0.34 NA NA NA 0.101 NA 11.1443334 546 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 546 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$P53_02 Name=Pol2-4H8 NA NA rs9469 0.42 0.42 0.401 0.413139 0.3787 0.7232 0.4222 0.0809 0.5716 0.39 0.7 0.43 0.11 0.4128 0.7 0.16 T 0.006 B 0.004 B 0.001 N 0.000 P 0.665 N 1.4 T -1.003 T 0.000 T 0.193 0.874 8.546 4.18 0.832 3.130 10.349 0.874397 NA NA 0.398256 0.140263 NA 0.348 NA 11.1435774 546 1 36202585 36202585 G A exonic CLSPN NA nonsynonymous SNV CLSPN:NM_001190481:exon23:c.C3647T:p.S1216L,CLSPN:NM_022111:exon24:c.C3839T:p.S1280L exonic ENSG00000092853 NA nonsynonymous SNV ENSG00000092853:ENST00000373220:exon23:c.C3647T:p.S1216L,ENSG00000092853:ENST00000251195:exon24:c.C3839T:p.S1280L,ENSG00000092853:ENST00000318121:exon24:c.C3839T:p.S1280L,ENSG00000092853:ENST00000520551:exon24:c.C3680T:p.S1227L Score=641;Name=lod=535 NA 1p34.3 NA NA NA NA rs35490896 0.05 0.05 0.051 0.0503195 0.0686 0.001 0.0403 0.0817 0.047 0.07 0.0017 0.05 0.08 0.0563 0.082 0.05 D 0.007 B 0.022 B 0.007 N 0.831 N 1.155 L 1.72 T -1.108 T 0.004 T 0.157 3.079 16.28 4.27 0.886 3.342 12.711 3.079236 3.079236 0.03 0.064884 0.082161 NA 0.014 NA 11.1435494 546 3 47036756 47036756 C G exonic NBEAL2 NA nonsynonymous SNV NBEAL2:NM_015175:exon13:c.C1531G:p.R511G exonic ENSG00000160796 NA nonsynonymous SNV ENSG00000160796:ENST00000292309:exon13:c.C1531G:p.R511G,ENSG00000160796:ENST00000450053:exon13:c.C1531G:p.R511G Score=445;Name=lod=86 NA 3p21.31 Score=881;Name=V$NF1_Q6 NA NA NA rs11720139 0.31 0.31 0.31 0.316693 0.3936 0.3383 0.3141 0.2027 0.3712 0.39 0.33 0.29 0.18 0.4381 0.39 0.32 T 0.321 B 0.066 B 0.007 N 0.000 P 0.69 N 1.41 T -0.910 T 0.000 T 0.176 0.187 5.007 4.54 2.506 1.491 11.591 0.187024 NA 0.17 0.363515 0.20179 ID=COSM446600,COSM446599;OCCURENCE=2(breast) 0.196 NA 11.1381184 546 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=Pol2-4H8,TAF1,Pol2,Pol2(phosphoS2),TAF7_(SQ-8),ELK4,TBP,NRSF 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 546 10 37505192 37505192 C T exonic ANKRD30A NA nonsynonymous SNV ANKRD30A:NM_052997:exon32:c.C2785T:p.R929C exonic ENSG00000148513 NA nonsynonymous SNV ENSG00000148513:ENST00000361713:exon32:c.C2785T:p.R929C,ENSG00000148513:ENST00000602533:exon32:c.C2785T:p.R929C,ENSG00000148513:ENST00000374660:exon38:c.C3142T:p.R1048C NA NA 10p11.21 NA NA NA NA rs1200875 0.16 0.16 0.15 0.128994 0.2644 0.0843 0.2666 0.0174 0.089 0.26 0.09 0.26 0.02 0.201 0.26 0.01 D 0.762 P 0.015 B . . 1.000 P 0 N 2.29 T -0.954 T 0.000 T 0.074 -0.139 3.321 2.63 1.281 1.096 10.634 -0.138837 NA 0 0.232178 0.046281 NA 0.138 NA 11.1357554 546 12 657404 657404 G A exonic B4GALNT3 NA nonsynonymous SNV B4GALNT3:NM_173593:exon9:c.G794A:p.R265Q exonic ENSG00000139044 NA nonsynonymous SNV ENSG00000139044:ENST00000322843:exon7:c.G500A:p.R167Q,ENSG00000139044:ENST00000266383:exon9:c.G794A:p.R265Q Score=429;Name=lod=74 NA 12p13.33 Score=897;Name=V$CREL_01 NA NA NA rs11063529 0.19 0.19 0.193 0.179513 0.2525 0.1706 0.1254 0.1467 0.1963 0.24 0.15 0.17 0.18 0.2118 0.24 0.49 T 0.716 P 0.06 B 0.008 N 0.952 P 0.955 L 1.88 T -0.954 T 0.000 T 0.2 1.741 11.78 1.81 1.075 2.952 4.382 1.740922 1.740922 0.43 0.233721 0.170222 NA 0.174 NA 11.1353124 547 9 20953049 20953049 A G exonic FOCAD NA nonsynonymous SNV FOCAD:NM_017794:exon37:c.A4117G:p.T1373A exonic ENSG00000188352 NA nonsynonymous SNV ENSG00000188352:ENST00000605086:exon23:c.A2425G:p.T809A,ENSG00000188352:ENST00000338382:exon34:c.A4117G:p.T1373A,ENSG00000188352:ENST00000380249:exon37:c.A4117G:p.T1373A Score=636;Name=lod=511 NA 9p21.3 NA Name=GATA-2 NA NA rs3206852 0.35 0.35 0.337 0.335663 0.4006 0.4355 0.2695 0.2405 0.3415 0.41 0.4 0.28 0.28 0.3825 0.42 0.3 T 0.0 B 0.001 B 0.008 N 0.996 P 1.39 L 1.98 T -0.911 T 0.000 T 0.045 1.268 10.14 3.73 1.107 1.718 2.431 1.267734 1.267734 0.38 0.416047 0.285066 ID=COSM150587;OCCURENCE=1(stomach) 0.355 NA 11.1341864 547 5 176017639 176017639 C A exonic CDHR2 NA nonsynonymous SNV CDHR2:NM_001171976:exon28:c.C3490A:p.L1164M,CDHR2:NM_017675:exon28:c.C3490A:p.L1164M exonic ENSG00000074276 NA nonsynonymous SNV ENSG00000074276:ENST00000506348:exon27:c.C3490A:p.L1164M,ENSG00000074276:ENST00000261944:exon28:c.C3490A:p.L1164M,ENSG00000074276:ENST00000510636:exon28:c.C3490A:p.L1164M NA NA 5q35.2 Score=773;Name=V$NRSF_01 NA Name=6 NA rs17078347 0.24 0.24 0.202 0.238219 0.2356 0.4395 0.2161 0.0182 0.3466 0.23 0.45 0.2 0.03 0.2459 0.45 0.1 T 0.966 D 0.564 P . . 1.000 P 1.79 L 0.29 T -0.916 T 0.000 T 0.135 1.539 11.1 -1.36 0.033 -1.193 12.261 1.538851 1.538851 0.02 0.21907 0.049932 NA 0.159 NA 11.1327634 547 10 96741053 96741053 A C exonic CYP2C9 NA nonsynonymous SNV CYP2C9:NM_000771:exon7:c.A1075C:p.I359L exonic ENSG00000138109 NA nonsynonymous SNV ENSG00000138109:ENST00000260682:exon7:c.A1075C:p.I359L Score=546;Name=lod=220 Name=Warfarin maintenance dose 10q23.33 NA NA NA NA rs1057910 0.04 0.04 0.03 0.0485224 0.0726 0.0337 0.0375 0.0023 0.1094 0.06 0.04 0.06 0.01 0.0637 0.066 0.11 T 0.002 B 0.058 B 0.171 U 0.033 A 1.4 L -0.35 T -0.915 T 0.022 T 0.226 1.04 9.246 1.14 0.613 0.025 9.019 1.039575 NA 0.04 0.06593 0.014299 NA 0.014 CLINSIG=drug-response|drug-response|drug-response|drug-response;CLNDBN=Tolbutamide_poor_metabolizer|Warfarin_response|Phenytoin_response|Glipizide_poor_metabolizer;CLNREVSTAT=single|single|single|single;CLNACC=RCV000008916.1|RCV000008917.2|RCV000008918.2|RCV000008919.3;CLNDSDB=.|MedGen:OMIM|MedGen|.;CLNDSDBID=.|CN078029:122700|CN069167|. 11.1311034 547 15 75108636 75108636 G A exonic LMAN1L NA nonsynonymous SNV LMAN1L:NM_021819:exon2:c.G314A:p.R105Q exonic ENSG00000140506 NA nonsynonymous SNV ENSG00000140506:ENST00000309664:exon2:c.G314A:p.R105Q,ENSG00000140506:ENST00000379709:exon2:c.G314A:p.R105Q,ENSG00000140506:ENST00000562810:exon4:c.G182A:p.R61Q Score=445;Name=lod=86 NA 15q24.1 Score=859;Name=V$NFKAPPAB50_01 NA NA NA rs3803568 0.09 0.09 0.086 0.15615 0.0487 0.1746 0.1095 0.0499 0.4243 0.05 0.18 0.1 0.05 0.1171 0.18 0.03 D 0.413 B 0.058 B 0.593 N 0.938 P 1.52 L 0.08 T -1.095 T 0.000 T 0.143 2.003 12.65 2.3 0.687 -0.077 5.661 2.002706 2.002706 0.03 0.037942 0.043488 NA 0.036 NA 11.1295914 547 12 104139034 104139034 C A exonic STAB2 NA nonsynonymous SNV STAB2:NM_017564:exon57:c.C6115A:p.P2039T exonic ENSG00000136011 NA nonsynonymous SNV ENSG00000136011:ENST00000388887:exon57:c.C6115A:p.P2039T Score=371;Name=lod=43 Name=vWF and FVIII levels 12q23.3 NA NA NA NA rs7306642 0.08 0.08 0.077 0.0780751 0.0706 NA 0.0591 0.1861 0.0337 0.07 NA 0.07 0.18 0.0683 0.19 0.5 T 0.016 B 0.012 B 0.954 U 0.998 P 0.575 N 1.3 T -1.026 T 0.000 T 0.051 -0.855 0.538 3.39 0.885 2.209 11.591 -0.854803 NA 0.23 0.065349 0.188379 NA 0.022 NA 11.1290844 547 19 53057479 53057479 G A exonic ZNF808 NA nonsynonymous SNV ZNF808:NM_001039886:exon5:c.G1310A:p.S437N exonic ENSG00000198482 NA nonsynonymous SNV ENSG00000198482:ENST00000487863:exon3:c.G1103A:p.S368N,ENSG00000198482:ENST00000359798:exon5:c.G1310A:p.S437N NA NA 19q13.41 NA Name=KAP1,ZNF274 NA NA rs61746334 0.07 0.07 0.066 0.0692891 0.0706 0.0079 0.0648 0.1551 0.0184 0.07 0.01 0.07 0.15 0.0658 0.15 0.34 T 0.0 B 0.003 B . . 1.000 P 1.74 L 2.15 T -1.003 T 0.000 T 0.001 -1.703 0.011 -2.81 -4.610 -9.386 1.106 -1.702933 NA 0.69 0.069415 0.118895 NA 0.101 NA 11.1275184 548 6 51910905 51910905 T C exonic PKHD1 NA nonsynonymous SNV PKHD1:NM_138694:exon24:c.A2489G:p.N830S,PKHD1:NM_170724:exon24:c.A2489G:p.N830S exonic ENSG00000170927 NA nonsynonymous SNV ENSG00000170927:ENST00000340994:exon24:c.A2489G:p.N830S,ENSG00000170927:ENST00000371117:exon24:c.A2489G:p.N830S NA NA 6p12.2 NA NA NA NA rs62406032 0.06 0.06 0.062 0.0634984 0.0726 0.1032 0.036 0.0038 0.1135 0.07 0.09 0.04 0.0041 0.0679 0.09 0.06 T 0.041 B 0.011 B 0.082 N 1.000 P 2.2 M -2.03 D -0.602 T 0.362 T 0.008 0.156 4.839 3.67 0.544 0.919 4.923 0.155984 NA 0 0.068721 0.014072 ID=COSM150104;OCCURENCE=1(stomach) 0.051 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082541.1;CLNDSDB=.;CLNDSDBID=. 11.1241124 548 17 79639708 79639708 C T exonic CCDC137 NA nonsynonymous SNV CCDC137:NM_199287:exon6:c.C844T:p.R282W exonic ENSG00000185298 NA nonsynonymous SNV ENSG00000185298:ENST00000329214:exon6:c.C844T:p.R282W,ENSG00000185298:ENST00000575223:exon6:c.C844T:p.R282W,ENSG00000185298:ENST00000574107:exon7:c.C871T:p.R291W NA NA 17q25.3 NA NA NA NA rs11546631 0.14 0.14 0.136 0.131589 0.0596 0.2232 0.0519 0.1997 0.0757 0.06 0.22 0.05 0.23 0.1048 0.23 0.06 T 0.001 B 0.001 B 0.000 N 1.000 P 0.69 N -3.01 D -0.903 T 0.000 T 0.359 1.026 9.192 -7.84 -2.470 -3.437 1.241 1.026261 NA 0.02 0.045194 0.139599 NA 0.188 NA 11.1237394 548 9 107266844 107266844 A G exonic OR13F1 NA nonsynonymous SNV OR13F1:NM_001004485:exon1:c.A301G:p.M101V exonic ENSG00000186881 NA nonsynonymous SNV ENSG00000186881:ENST00000334726:exon1:c.A301G:p.M101V Score=366;Name=lod=41 NA 9q31.1 NA NA NA NA rs1403812 0.78 0.78 0.791 0.783946 0.7475 0.7827 0.7666 0.9062 0.6697 0.75 0.77 0.73 0.89 0.7407 0.89 0.04 D 0.079 B 0.034 B 0.001 N 0.995 P 2.06 M 4.5 T -1.052 T 0.000 T 0.14 1.423 10.7 3.1 0.964 1.133 4.709 1.422607 1.422607 0.01 0.725 0.86246 NA 0.768 NA 11.1201334 548 1 200017586 200017586 C G exonic NR5A2 NA synonymous SNV NR5A2:NM_001276464:exon4:c.C534G:p.P178P,NR5A2:NM_003822:exon4:c.C612G:p.P204P,NR5A2:NM_205860:exon5:c.C750G:p.P250P exonic ENSG00000116833 NA synonymous SNV ENSG00000116833:ENST00000236914:exon4:c.C612G:p.P204P,ENSG00000116833:ENST00000544748:exon4:c.C534G:p.P178P,ENSG00000116833:ENST00000367362:exon5:c.C750G:p.P250P Score=665;Name=lod=671 NA 1q32.1 NA Name=Pol2-4H8,TAF1,TCF12,POU5F1_(SC-9081),JunD,YY1,NANOG_(SC-33759),Sin3Ak-20,Max Name=3 NA rs2821368 0.21 0.21 0.213 0.230232 0.1799 0.0397 0.17 0.5189 0.1309 0.17 0.03 0.19 0.52 0.1886 0.52 . . . . . . 0.000 D 0.000 P . . -3.02 D -1.017 T 0.000 T . 0.941 8.838 -1.51 -0.453 0.008 8.109 0.941489 NA NA 0.17814 0.4798 NA 0.333 NA 11.1200266 548 6 152658142 152658142 T C exonic SYNE1 NA nonsynonymous SNV SYNE1:NM_033071:exon75:c.A12149G:p.K4050R,SYNE1:NM_182961:exon76:c.A12362G:p.K4121R exonic ENSG00000131018 NA nonsynonymous SNV ENSG00000131018:ENST00000423061:exon75:c.A12149G:p.K4050R,ENSG00000131018:ENST00000265368:exon76:c.A12362G:p.K4121R,ENSG00000131018:ENST00000367255:exon76:c.A12362G:p.K4121R,ENSG00000131018:ENST00000448038:exon76:c.A12149G:p.K4050R,ENSG00000131018:ENST00000341594:exon78:c.A11957G:p.K3986R Score=410;Name=lod=62 NA 6q25.2 Score=831;Name=V$CDC5_01 NA NA NA rs9479297 0.82 0.82 0.802 0.793131 0.7416 0.8631 0.7147 0.9569 0.6084 0.75 0.86 0.7 0.95 0.7547 0.95 1 T 0.0 B 0.0 B 0.011 N 0.000 P -0.97 N 1.37 T -0.969 T 0.009 T 0.03 1.01 9.124 4.48 1.330 1.431 9.174 1.009745 NA 0.86 0.719419 0.922379 NA 0.739 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118439.2;CLNDSDB=.;CLNDSDBID=. 11.1176144 548 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 548 8 2808730 2808730 T A exonic CSMD1 NA nonsynonymous SNV CSMD1:NM_033225:exon66:c.A10107T:p.Q3369H exonic ENSG00000183117 NA nonsynonymous SNV ENSG00000183117:ENST00000542608:exon63:c.A9576T:p.Q3192H,ENSG00000183117:ENST00000400186:exon64:c.A9579T:p.Q3193H,ENSG00000183117:ENST00000602723:exon64:c.A9579T:p.Q3193H,ENSG00000183117:ENST00000537824:exon66:c.A10107T:p.Q3369H,ENSG00000183117:ENST00000520002:exon67:c.A10110T:p.Q3370H,ENSG00000183117:ENST00000602557:exon67:c.A10110T:p.Q3370H Score=472;Name=lod=110 NA 8p23.2 NA NA NA NA rs34337712 0.03 0.03 0.026 0.0213658 0.0726 NA 0.0331 NA 0.0112 0.07 NA 0.04 NA 0.0689 0.076 0.13 T 0.021 B 0.027 B 0.000 D 1.000 D 1.04 L 1.77 T -0.956 T 0.009 T 0.231 1.724 11.72 -7.9 -0.678 -0.078 7.293 1.724179 1.724179 0.07 0.075658 0.015175 NA 0.029 NA 11.1161754 549 5 80409526 80409526 T C exonic RASGRF2 NA nonsynonymous SNV RASGRF2:NM_006909:exon15:c.T2257C:p.S753P exonic ENSG00000113319 NA nonsynonymous SNV ENSG00000113319:ENST00000265080:exon15:c.T2257C:p.S753P,ENSG00000113319:ENST00000503795:exon15:c.T2257C:p.S753P Score=523;Name=lod=178 NA 5q14.1 NA NA NA NA rs34193571 0.04 0.04 0.032 0.0513179 0.0726 0.0109 0.0663 0.0098 0.1166 0.06 0.01 0.06 0.02 0.0692 0.081 0.38 T 0.002 B 0.004 B 0.005 U 0.997 D 1.245 L -0.89 T -1.048 T 0.021 T 0.086 2.657 14.84 4.15 0.878 1.984 10.755 2.656523 2.656523 0.34 0.081279 0.019292 NA 0.036 NA 11.1102544 549 11 5444353 5444353 T C exonic OR51Q1 NA nonsynonymous SNV OR51Q1:NM_001004757:exon1:c.T923C:p.F308S exonic ENSG00000167360 NA nonsynonymous SNV ENSG00000167360:ENST00000300778:exon1:c.T923C:p.F308S NA NA 11p15.4 NA Name=JunD NA NA rs2647573 0.44 0.44 0.404 0.453674 0.3986 0.7024 0.3991 0.2799 0.5276 0.37 0.68 0.41 0.28 0.4361 0.68 0.04 D 0.094 B 0.031 B 0.096 N 0.830 P 0.58 N 1.21 T -0.988 T 0.000 T 0.166 1.807 12 5.0 2.133 1.616 12.321 1.807088 1.807088 0.1 0.39004 0.300772 NA 0.312 NA 11.1085934 549 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 550 17 48456193 48456193 T C exonic EME1 NA nonsynonymous SNV EME1:NM_001166131:exon5:c.T1049C:p.I350T,EME1:NM_152463:exon5:c.T1049C:p.I350T exonic ENSG00000154920 NA nonsynonymous SNV ENSG00000154920:ENST00000511648:exon4:c.T1049C:p.I350T,ENSG00000154920:ENST00000338165:exon5:c.T1049C:p.I350T,ENSG00000154920:ENST00000393271:exon5:c.T1049C:p.I350T NA NA 17q21.33 NA NA NA NA rs12450550 0.16 0.16 0.127 0.142572 0.2445 0.0804 0.2911 0.0416 0.1329 0.24 0.08 0.26 0.04 0.224 0.26 0.04 D 0.804 P 0.318 B 0.793 N 1.000 P 2.005 M 1.89 T -1.022 T 0.000 T 0.525 2.28 13.58 2.1 0.468 1.796 8.978 2.279564 2.279564 0.07 0.26093 0.081026 ID=COSM148297;OCCURENCE=1(stomach) 0.239 NA 11.1039034 550 11 59480969 59480969 A G exonic OR10V1 NA nonsynonymous SNV OR10V1:NM_001005324:exon1:c.T350C:p.V117A exonic ENSG00000172289 NA nonsynonymous SNV ENSG00000172289:ENST00000307552:exon1:c.T350C:p.V117A NA NA 11q12.1 Score=772;Name=V$PAX2_01 NA NA NA rs472177 0.16 0.16 0.151 0.186901 0.0636 0.0685 0.1787 0.4796 0.046 0.07 0.05 0.15 0.44 0.1045 0.44 1 T 0.0 B 0.0 B 0.000 N 0.038 P -1.795 N 5.04 T -0.997 T 0.000 T 0.044 -1.171 0.088 4.36 1.227 2.361 10.761 -1.171484 NA 1 0.061583 0.402544 NA 0.21 NA 11.1036504 550 17 3926110 3926110 C G exonic ZZEF1 NA nonsynonymous SNV ZZEF1:NM_015113:exon44:c.G7105C:p.E2369Q exonic ENSG00000074755 NA nonsynonymous SNV ENSG00000074755:ENST00000381638:exon44:c.G7105C:p.E2369Q Score=391;Name=lod=52 NA 17p13.2 NA NA NA NA rs711177 0.12 0.12 0.125 0.143371 0.0706 0.0724 0.1311 0.2504 0.1554 0.08 0.07 0.12 0.25 0.1037 0.27 0.14 T 0.18 B 0.044 B 0.000 N 0.000 P 0.55 N 1.71 T -0.969 T 0.000 T 0.176 3.872 19.67 4.97 1.472 3.495 11.065 3.871784 3.871784 0.17 0.057791 0.26759 NA 0.138 NA 11.1012424 550 11 71948536 71948536 C G exonic INPPL1 NA nonsynonymous SNV INPPL1:NM_001567:exon26:c.C3248G:p.A1083G exonic ENSG00000165458 NA nonsynonymous SNV ENSG00000165458:ENST00000541752:exon1:c.C287G:p.A96G,ENSG00000165458:ENST00000538751:exon25:c.C2522G:p.A841G,ENSG00000165458:ENST00000298229:exon26:c.C3248G:p.A1083G,ENSG00000165458:ENST00000541756:exon26:c.C2522G:p.A841G Score=539;Name=lod=206 NA 11q13.4 Score=811;Name=V$TAXCREB_01 NA Name=6 NA rs11548491 0.15 0.15 0.149 0.15655 0.0746 0.1498 0.1196 0.298 0.0828 0.07 0.12 0.15 0.29 0.0998 0.29 0.45 T 0.0 B 0.0 B 0.005 N 1.000 P 0 N 1.47 T -1.054 T 0.000 T 0.066 -0.363 2.288 2.62 0.594 0.104 9.149 -0.363144 NA 0.72 0.058364 0.252275 NA 0.167 NA 11.1005694 550 13 113479820 113479820 A G exonic ATP11A NA nonsynonymous SNV ATP11A:NM_015205:exon11:c.A949G:p.M317V,ATP11A:NM_032189:exon11:c.A949G:p.M317V exonic ENSG00000068650 NA nonsynonymous SNV ENSG00000068650:ENST00000283558:exon11:c.A949G:p.M317V,ENSG00000068650:ENST00000375630:exon11:c.A949G:p.M317V,ENSG00000068650:ENST00000375645:exon11:c.A949G:p.M317V,ENSG00000068650:ENST00000487903:exon11:c.A949G:p.M317V Score=479;Name=lod=118 NA 13q34 Score=694;Name=V$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 550 4 123150286 123150286 T C exonic KIAA1109 NA nonsynonymous SNV KIAA1109:NM_015312:exon23:c.T2933C:p.I978T exonic ENSG00000138688 NA nonsynonymous SNV ENSG00000138688:ENST00000449251:exon4:c.T428C:p.I143T,ENSG00000138688:ENST00000388738:exon23:c.T2933C:p.I978T,ENSG00000138688:ENST00000455637:exon23:c.T2933C:p.I978T,ENSG00000138688:ENST00000264501:exon25:c.T2933C:p.I978T Score=658;Name=lod=630 NA 4q27 NA NA NA NA rs6848868 0.05 0.05 0.039 0.0349441 0.0835 NA 0.0677 0.0295 0.0051 0.08 NA 0.08 0.04 0.0593 0.091 0.39 T 0.005 B 0.01 B 0.364 N 0.519 P 0.345 N 0.81 T -1.080 T 0.004 T 0.182 1.407 10.64 5.33 2.131 5.210 8.009 1.407193 1.407193 0.03 0.091109 0.039545 NA 0.029 NA 11.0994244 550 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 550 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 550 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 550 5 33535060 33535060 G A exonic ADAMTS12 NA nonsynonymous SNV ADAMTS12:NM_030955:exon23:c.C4484T:p.T1495I exonic ENSG00000151388 NA nonsynonymous SNV ENSG00000151388:ENST00000352040:exon21:c.C4229T:p.T1410I,ENSG00000151388:ENST00000504830:exon23:c.C4484T:p.T1495I Score=435;Name=lod=78 NA 5p13.3 NA NA NA NA rs25754 0.54 0.54 0.53 0.599641 0.3608 0.7688 0.4986 0.6498 0.6748 0.35 0.77 0.49 0.62 0.4902 0.77 0.38 T 0.129 B 0.067 B 0.006 N 0.000 P 2.32 M 0.65 T -0.943 T 0.000 T 0.31 2.013 12.69 4.1 2.470 0.983 8.619 2.013407 2.013407 0.41 0.386744 0.606673 NA 0.543 NA 11.0955894 550 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$MEIS1_01 NA NA NA rs4453725 0.31 0.31 0.301 0.317093 0.4185 0.2103 0.3818 0.2526 0.364 0.42 0.19 0.38 0.23 0.3928 0.43 0.01 D 0.039 B 0.019 B 0.865 N 0.000 P 0.345 N 0.01 T -0.987 T 0.000 T 0.275 -0.031 3.853 3.94 1.066 0.978 6.884 -0.031371 NA 0 0.42686 0.2803 ID=COSM1130747;OCCURENCE=1(prostate) 0.399 NA 11.0951734 551 22 50572473 50572473 G A exonic MOV10L1 NA nonsynonymous SNV MOV10L1:NM_001164104:exon14:c.G1948A:p.V650I,MOV10L1:NM_001164105:exon14:c.G1888A:p.V630I,MOV10L1:NM_018995:exon14:c.G1948A:p.V650I exonic ENSG00000073146 NA nonsynonymous SNV ENSG00000073146:ENST00000262794:exon14:c.G1948A:p.V650I,ENSG00000073146:ENST00000395858:exon14:c.G1948A:p.V650I,ENSG00000073146:ENST00000540615:exon14:c.G1888A:p.V630I,ENSG00000073146:ENST00000545383:exon15:c.G1948A:p.V650I NA NA 22q13.33 Score=916;Name=V$TCF11_01 NA NA NA rs2340601 0.24 0.24 0.216 0.248003 0.2356 0.254 0.3847 0.1218 0.3282 0.23 0.32 0.34 0.11 0.2647 0.34 0.27 T 0.903 P 0.232 B 0.002 N 0.000 P 0.895 L -1.38 T -1.097 T 0.000 T 0.174 2.518 14.38 5.78 2.730 4.303 19.631 2.518497 2.518497 0.49 0.238256 0.151384 ID=COSM149321;OCCURENCE=1(stomach) 0.188 NA 11.0947774 551 8 113241088 113241088 T G exonic CSMD3 NA nonsynonymous SNV CSMD3:NM_052900:exon68:c.A10354C:p.N3452H,CSMD3:NM_198123:exon70:c.A10861C:p.N3621H,CSMD3:NM_198124:exon71:c.A10741C:p.N3581H exonic ENSG00000164796 NA nonsynonymous SNV ENSG00000164796:ENST00000339701:exon55:c.A8671C:p.N2891H,ENSG00000164796:ENST00000352409:exon68:c.A10651C:p.N3551H,ENSG00000164796:ENST00000455883:exon68:c.A10354C:p.N3452H,ENSG00000164796:ENST00000297405:exon70:c.A10861C:p.N3621H,ENSG00000164796:ENST00000343508:exon71:c.A10741C:p.N3581H Score=708;Name=lod=1007 NA 8q23.3 NA NA NA NA rs1592624 0.69 0.69 0.705 0.71226 0.5676 0.7619 0.585 0.944 0.5869 0.54 0.73 0.63 0.93 0.6148 0.93 0.17 T 0.994 D 0.879 P 0.002 N 0.004 P 1.59 L 2.06 T -1.109 T 0.000 T 0.106 3.485 17.83 5.63 2.257 4.181 16.126 3.485126 3.485126 0.18 0.558529 0.880844 ID=COSM1166813,COSM1166814;OCCURENCE=1(ovary),1(large_intestine) 0.819 NA 11.0924044 551 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 551 9 139748483 139748483 G A exonic MAMDC4 NA nonsynonymous SNV MAMDC4:NM_206920:exon6:c.G625A:p.A209T exonic ENSG00000177943 NA nonsynonymous SNV ENSG00000177943:ENST00000317446:exon6:c.G625A:p.A209T,ENSG00000177943:ENST00000445819:exon6:c.G625A:p.A209T NA NA 9q34.3 NA Name=Rad21,CTCF_(C-20),CTCF Name=5 NA rs45449193 0.04 0.04 0.03 0.0399361 0.0885 0.001 0.0346 0.0008 0.0869 0.09 NA 0.04 NA 0.0695 0.09 0.45 T 0.001 B 0.002 B 0.686 N 1.000 N -0.35 N 4.45 T -1.017 T 0.001 T 0.297 -1.038 0.21 -5.55 -1.229 0.051 6.845 -1.03754 NA 1 0.086512 0.02089 NA 0.036 NA 11.0888214 551 1 3745924 3745924 G A exonic CEP104 NA nonsynonymous SNV CEP104:NM_014704:exon15:c.C2057T:p.A686V exonic ENSG00000116198 NA nonsynonymous SNV ENSG00000116198:ENST00000461667:exon1:c.C14T:p.A5V,ENSG00000116198:ENST00000378230:exon15:c.C2057T:p.A686V Score=393;Name=lod=53 NA 1p36.32 NA NA NA NA rs2275831 0.2 0.2 0.183 0.210463 0.0557 0.5208 0.1311 0.0802 0.2822 0.06 0.51 0.15 0.09 0.1428 0.51 0.3 T 0.061 B 0.019 B 0.019 N 0.000 P 1.155 L 1.05 T -0.916 T 0.000 T 0.082 0.645 7.46 4.39 1.208 2.063 7.149 0.644553 NA 0.45 0.046163 0.088289 NA 0.123 NA 11.0886704 551 6 32064726 32064726 T C exonic TNXB NA nonsynonymous SNV TNXB:NM_019105:exon3:c.A904G:p.T302A exonic ENSG00000168477 NA nonsynonymous SNV ENSG00000168477:ENST00000375244:exon3:c.A904G:p.T302A,ENSG00000168477:ENST00000375247:exon3:c.A904G:p.T302A,ENSG00000168477:ENST00000479795:exon3:c.A904G:p.T302A Score=309;Name=lod=24 NA 6p21.33 NA Name=CTCF,CTCF_(SC-5916) Name=7 NA rs1150752 0.03 0.03 0.032 0.01877 0.0755 NA 0.0216 0.0023 NA 0.08 NA 0.02 0.0041 0.065 0.11 0.38 T 0.018 B 0.016 B 0.720 N 1.000 N 1.685 L 0.0 T -1.038 T 0.064 T 0.044 0.231 5.247 -2.19 -0.427 -0.203 3.083 0.230987 NA 0.05 0.105708 0.021579 NA 0.087 NA 11.0871254 551 3 186459927 186459927 T C exonic KNG1 NA nonsynonymous SNV KNG1:NM_001102416:exon10:c.T1742C:p.I581T exonic ENSG00000113889 NA nonsynonymous SNV ENSG00000113889:ENST00000265023:exon10:c.T1742C:p.I581T Score=289;Name=lod=20 Name=Activated partial thromboplastin time 3q27.3 NA NA NA NA rs710446 0.42 0.42 0.402 0.415335 0.4175 0.2966 0.4654 0.5204 0.3579 0.42 0.29 0.5 0.52 0.4154 0.52 . . 0.0 B 0.0 B 0.005 N 0.000 P -1.7 N 2.75 T -0.982 T 0.000 T 0.045 -1.547 0.015 5.61 1.546 1.999 11.057 -1.546701 NA 1 0.413685 0.501274 ID=COSM149541;OCCURENCE=1(stomach) 0.493 NA 11.0867484 551 12 48596546 48596546 C T exonic OR10AD1 NA nonsynonymous SNV OR10AD1:NM_001004134:exon1:c.G530A:p.S177N exonic ENSG00000172640 NA nonsynonymous SNV ENSG00000172640:ENST00000310248:exon1:c.G530A:p.S177N Score=399;Name=lod=56 NA 12q13.11 NA NA NA NA rs75531856 0.05 0.05 0.04 0.0425319 0.0924 0.006 0.036 0.059 0.0112 0.09 0.01 0.02 0.04 0.0667 0.09 0.02 D 0.0 B 0.0 B 0.001 N 1.000 N -0.59 N 8.68 T -0.994 T 0.000 T 0.016 1.227 9.976 3.69 0.439 2.446 7.865 1.226799 NA 0.54 0.088605 0.062415 NA 0.043 NA 11.0856284 552 3 184801094 184801094 G A exonic C3orf70 NA nonsynonymous SNV C3orf70:NM_001025266:exon2:c.C454T:p.P152S exonic ENSG00000187068 NA nonsynonymous SNV ENSG00000187068:ENST00000335012:exon2:c.C454T:p.P152S NA NA 3q27.2 NA NA NA NA rs61740263 0.06 0.06 0.054 0.0632987 0.0865 0.0526 0.0634 0.0522 0.0654 0.1 0.04 0.07 0.03 0.0759 0.1 0.29 T 0.0 B 0.0 B 0.000 D 1.000 P 0.345 N . . -1.103 T 0.002 T 0.039 0.666 7.567 4.04 2.339 1.956 6.607 0.665885 NA 0.16 0.087907 0.063323 NA 0.051 NA 11.0830264 552 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 552 18 77097360 77097360 A T exonic ATP9B NA nonsynonymous SNV ATP9B:NM_198531:exon19:c.A2194T:p.M732L exonic ENSG00000166377 NA nonsynonymous SNV ENSG00000166377:ENST00000543761:exon3:c.A157T:p.M53L,ENSG00000166377:ENST00000307671:exon19:c.A2194T:p.M732L,ENSG00000166377:ENST00000426216:exon19:c.A2194T:p.M732L Score=554;Name=lod=239 NA 18q23 NA NA NA NA rs585033 0.04 0.04 0.027 0.0323482 0.1024 0.001 0.0562 0.003 0.0153 0.1 0.0017 0.06 0.002 0.0611 0.1 1 T 0.017 B 0.048 B 0.000 N 1.000 D -0.365 N 0.15 T -0.250 T 0.100 T 0.141 0.829 8.343 4.18 0.850 6.809 11.587 0.829243 NA 0.95 0.090349 0.022469 NA 0.058 NA 11.0794844 552 20 35749423 35749423 T C exonic MROH8 NA unknown UNKNOWN exonic ENSG00000101353 NA nonsynonymous SNV ENSG00000101353:ENST00000217333:exon12:c.A1480G:p.T494A,ENSG00000101353:ENST00000400441:exon16:c.A1993G:p.T665A,ENSG00000101353:ENST00000441008:exon18:c.A1951G:p.T651A Score=466;Name=lod=104 NA 20q11.23 NA NA NA NA rs113747754 0.01 0.01 0.011 0.0121805 0.0308 NA 0.0115 0.0053 0.0153 0.03 NA 0.01 0.01 0.0246 0.032 0.2 T 0.894 P 0.437 B 0.011 N 0.960 N 1.61 L 1.02 T -1.044 T 0.049 T 0.361 3.106 16.38 4.68 2.241 1.447 8.582 3.106229 3.106229 0.12 0.031876 0.010545 NA NA NA 11.0793907 552 1 177905469 177905469 C A exonic SEC16B NA nonsynonymous SNV SEC16B:NM_033127:exon20:c.G2535T:p.Q845H exonic ENSG00000120341 NA nonsynonymous SNV ENSG00000120341:ENST00000308284:exon20:c.G2535T:p.Q845H NA NA 1q25.2 NA NA NA NA rs7522194 0.2 0.2 0.195 0.195088 0.2624 0.1716 0.2349 0.1006 0.2495 0.26 0.2 0.23 0.1 0.2628 0.26 0.65 T 0.996 D 0.804 P 0.338 N 1.000 P 2.075 M 2.45 T -1.022 T 0.000 T 0.099 1.312 10.3 2.97 0.744 1.251 7.955 1.311719 1.311719 0.05 0.231981 0.12175 NA 0.283 NA 11.0761524 552 6 656343 656343 T C exonic HUS1B NA nonsynonymous SNV HUS1B:NM_148959:exon1:c.A602G:p.Q201R exonic ENSG00000188996 NA nonsynonymous SNV ENSG00000188996:ENST00000380907:exon1:c.A602G:p.Q201R NA NA 6p25.3 Score=802;Name=V$MEF2_02 NA NA NA rs17136239 0.09 0.09 0.092 0.117812 0.0825 0.1399 0.0821 0.0764 0.2127 0.08 0.15 0.08 0.07 0.0978 0.16 0.51 T 0.0 B 0.0 B 0.312 N 1.000 P 0 N 2.8 T -0.905 T 0.004 T 0.019 1.199 9.87 -7.2 -1.042 1.547 9.204 1.1988 NA 0.17 0.077674 0.091239 NA 0.13 NA 11.0753594 553 17 79612382 79612382 T C exonic TSPAN10 NA unknown UNKNOWN exonic ENSG00000182612 NA nonsynonymous SNV ENSG00000182612:ENST00000328585:exon2:c.T401C:p.V134A Score=374;Name=lod=44 NA 17q25.3 NA NA NA NA rs7210026 0.52 0.52 0.45 0.585064 0.2853 0.7798 0.6023 0.6437 0.6012 0.29 0.77 0.52 0.59 0.4688 0.77 0.06 T 0.757 P 0.429 B 0.000 D 0.000 P . . 3.07 T -1.191 T 0.000 T 0.174 2.546 14.47 4.15 1.747 5.365 13.304 2.545822 2.545822 0 0.340459 0.567393 NA 0.42 NA 11.0721077 554 1 38188740 38188740 C T exonic EPHA10 NA nonsynonymous SNV EPHA10:NM_001099439:exon10:c.G1933A:p.V645I exonic ENSG00000183317 NA nonsynonymous SNV ENSG00000183317:ENST00000534097:exon4:c.G433A:p.V145I,ENSG00000183317:ENST00000330210:exon6:c.G418A:p.V140I,ENSG00000183317:ENST00000437645:exon6:c.G607A:p.V203I,ENSG00000183317:ENST00000540011:exon6:c.G418A:p.V140I,ENSG00000183317:ENST00000373048:exon10:c.G1933A:p.V645I,ENSG00000183317:ENST00000427468:exon10:c.G1933A:p.V645I Score=522;Name=lod=176 NA 1p34.3 Score=838;Name=V$IRF1_01 NA NA NA rs12405650 0.06 0.06 0.056 0.0451278 0.1083 0.0278 0.0476 0.0174 0.0337 0.1 0.02 0.06 0.03 0.0667 0.1 1 T 0.0 B 0.002 B 0.920 N 0.000 P 0.015 N 3.08 T -1.035 T 0.003 T 0.209 -1.364 0.027 2.02 0.788 1.110 4.976 -1.363885 NA 1 0.09378 0.031754 NA 0.087 NA 11.0645534 554 17 73753503 73753503 T C exonic ITGB4 NA nonsynonymous SNV ITGB4:NM_001005619:exon39:c.T5285C:p.L1762P,ITGB4:NM_001005731:exon39:c.T5126C:p.L1709P,ITGB4:NM_000213:exon40:c.T5336C:p.L1779P exonic ENSG00000132470 NA nonsynonymous SNV ENSG00000132470:ENST00000449880:exon39:c.T5285C:p.L1762P,ENSG00000132470:ENST00000450894:exon39:c.T5126C:p.L1709P,ENSG00000132470:ENST00000579662:exon39:c.T5126C:p.L1709P,ENSG00000132470:ENST00000200181:exon40:c.T5336C:p.L1779P,ENSG00000132470:ENST00000339591:exon40:c.T5285C:p.L1762P Score=363;Name=lod=40 NA 17q25.1 NA NA NA NA rs871443 0.59 0.59 0.538 0.571486 0.7863 0.631 0.7594 0.1505 0.7249 0.79 0.59 0.76 0.15 0.7144 0.79 0.11 T 0.998 D 0.958 D 0.002 N 0.000 P 1.79 L -1.14 T -0.927 T 0.000 T 0.524 1.062 9.335 4.17 1.534 4.795 13.221 1.061595 NA 0 0.769186 0.2803 NA 0.594 NA 11.0634474 554 6 101296389 101296389 G A exonic ASCC3 NA nonsynonymous SNV ASCC3:NM_006828:exon4:c.C436T:p.L146F exonic ENSG00000112249 NA nonsynonymous SNV ENSG00000112249:ENST00000324723:exon4:c.C436T:p.L146F,ENSG00000112249:ENST00000369162:exon4:c.C436T:p.L146F,ENSG00000112249:ENST00000522650:exon4:c.C436T:p.L146F Score=366;Name=lod=41 NA 6q16.3 NA NA NA NA rs9390698 0.3 0.3 0.265 0.245407 0.4493 0.2331 0.415 0.0628 0.1748 0.46 0.27 0.36 0.07 0.3651 0.46 0.08 T 0.037 B 0.018 B 0.000 D 0.000 P 1.845 L 0.7 T -0.920 T 0.120 T 0.407 2.302 13.66 4.97 1.438 2.523 16.862 2.302375 2.302375 0.31 0.455814 0.144803 ID=COSM150148;OCCURENCE=1(stomach) 0.254 NA 11.0631194 554 14 20586042 20586042 G C exonic OR4K17 NA nonsynonymous SNV OR4K17:NM_001004715:exon1:c.G477C:p.K159N exonic ENSG00000176230 NA nonsynonymous SNV ENSG00000176230:ENST00000315543:exon1:c.G477C:p.K159N Score=484;Name=lod=124 NA 14q11.2 NA NA NA NA rs8005245 0.42 0.42 0.421 0.427516 0.4294 0.5437 0.4135 0.3268 0.4519 0.42 0.54 0.42 0.3 0.4258 0.54 0.01 D 0.997 D 0.928 D 0.466 U 0.974 P 1.225 L 7.58 T -1.065 T 0.000 T 0.065 2.287 13.61 1.95 0.511 -6.214 5.030 2.287217 2.287217 0.02 0.41686 0.362233 NA 0.355 NA 11.0612734 554 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 554 17 35984410 35984410 T C exonic DDX52 NA nonsynonymous SNV DDX52:NM_007010:exon9:c.A1207G:p.M403V exonic ENSG00000141141 NA nonsynonymous SNV ENSG00000141141:ENST00000349699:exon9:c.A1207G:p.M403V,ENSG00000141141:ENST00000394367:exon10:c.A883G:p.M295V Score=553;Name=lod=235 NA 17q12 NA NA Name=2 NA rs7216445 0.63 0.63 0.601 0.574481 0.7604 0.5605 0.7205 0.4002 0.5297 0.76 0.56 0.73 0.42 0.7145 0.8 0.18 T 0.004 B 0.009 B 0.000 D 0.001 P -0.605 N 3.73 T -1.097 T 0.000 T 0.296 1.932 12.42 4.73 1.027 3.268 11.056 1.93158 1.93158 0.34 0.802442 0.492056 NA 0.652 NA 11.0559914 554 12 52774235 52774235 A G exonic KRT84 NA nonsynonymous SNV KRT84:NM_033045:exon7:c.T1336C:p.C446R exonic ENSG00000161849 NA nonsynonymous SNV ENSG00000161849:ENST00000257951:exon7:c.T1336C:p.C446R Score=645;Name=lod=558 NA 12q13.13 Score=952;Name=V$AP4_Q6 Name=CTCF,CTCF_(C-20),CTCF_(SC-5916),ERalpha_a,c-Myc,Rad21 Name=61 NA rs951773 0.81 0.81 0.792 0.826478 0.7346 0.746 0.8545 0.9463 0.8221 0.73 0.8 0.83 0.91 0.7876 0.93 1 T 0.0 B 0.0 B 0.057 N 0.026 P -2.395 N -0.78 T -0.956 T 0.000 T 0.042 -0.131 3.357 4.04 0.674 1.129 7.821 -0.131357 NA 1 0.755233 0.929641 NA 0.638 NA 11.0559004 555 7 94043239 94043239 C G exonic COL1A2 NA nonsynonymous SNV COL1A2:NM_000089:exon28:c.C1645G:p.P549A exonic ENSG00000164692 NA nonsynonymous SNV ENSG00000164692:ENST00000297268:exon28:c.C1645G:p.P549A Score=530;Name=lod=190 NA 7q21.3 NA NA Name=7 NA rs42524 0.85 0.85 0.843 0.821685 0.7604 0.9067 0.8429 0.9092 0.6636 0.77 0.94 0.83 0.9 0.7693 0.94 0.81 T 0.0 B 0.0 B 0.000 N 1.000 P 1.87 L -4.05 D -0.903 T 0.000 T 0.126 0.307 5.666 5.66 1.557 1.248 17.206 0.307415 NA NA 0.748837 0.883114 NA 0.783 NA 11.0547964 555 20 20033367 20033367 C G exonic CRNKL1 NA nonsynonymous SNV CRNKL1:NM_016652:exon2:c.G103C:p.G35R exonic;splicing ENSG00000101343;ENSG00000101343 ENST00000490910:exon3:c.68-1G>C,ENST00000377327:exon3:c.68-1G>C nonsynonymous SNV ENSG00000101343:ENST00000377340:exon2:c.G103C:p.G35R NA NA 20p11.23 NA Name=GABP,Znf143_(16618-1-AP),KAP1,HA-E2F1,E2F6,CEBPB,c-Fos,YY1_(C-20),SIX5,Sin3Ak-20 Name=148 NA rs7508949 0.26 0.26 0.234 0.242412 0.4583 0.1141 0.3285 0.0537 0.3466 0.47 0.11 0.32 0.06 0.393 0.47 . . 0.0 B 0.0 B 0.000 N 0.997 P 0 N 1.25 T -1.022 T 0.000 T 0.012 -1.16 0.096 -9.94 -2.461 -2.877 5.258 -1.159844 NA 0 0.427653 0.127747 NA 0.297 NA 11.0543804 555 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 555 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 555 6 87967636 87967636 A G exonic ZNF292 NA nonsynonymous SNV ZNF292:NM_015021:exon8:c.A4289G:p.N1430S exonic ENSG00000188994 NA nonsynonymous SNV ENSG00000188994:ENST00000339907:exon8:c.A4274G:p.N1425S,ENSG00000188994:ENST00000369577:exon8:c.A4289G:p.N1430S Score=720;Name=lod=1129 NA 6q14.3 Score=835;Name=V$FREAC3_01 NA NA NA rs6941356 0.08 0.08 0.064 0.0844649 0.0954 0.1359 0.0548 0.0303 0.1145 0.1 0.12 0.07 0.03 0.0918 0.12 0.44 T 0.012 B 0.007 B 0.008 N 1.000 N 0.205 N 3.3 T -0.898 T 0.003 T 0.008 0.056 4.306 2.64 0.360 1.955 7.540 0.056132 NA 0.61 0.092852 0.038782 NA 0.036 NA 11.0532814 555 11 123848121 123848121 T C exonic OR10S1 NA nonsynonymous SNV OR10S1:NM_001004474:exon1:c.A278G:p.K93R exonic ENSG00000196248 NA nonsynonymous SNV ENSG00000196248:ENST00000531945:exon1:c.A278G:p.K93R Score=395;Name=lod=54 NA 11q24.1 Score=863;Name=V$COUP_01 NA NA NA rs17686210 0.21 0.21 0.207 0.180112 0.2903 0.1171 0.2161 0.1558 0.1391 0.27 0.13 0.24 0.16 0.2336 0.27 0.1 T 0.988 D 0.676 P 0.036 U 0.997 P 0.855 L 3.26 T -0.879 T 0.000 T 0.099 1.512 11 3.69 0.877 0.933 11.659 1.511627 1.511627 0.27 0.257851 0.167802 NA 0.145 NA 11.0515824 555 2 170010985 170010985 T C exonic LRP2 NA nonsynonymous SNV LRP2:NM_004525:exon66:c.A12280G:p.K4094E exonic ENSG00000081479 NA nonsynonymous SNV ENSG00000081479:ENST00000263816:exon66:c.A12280G:p.K4094E Score=343;Name=lod=33 NA 2q31.1 NA NA NA NA rs2075252 0.74 0.74 0.712 0.777955 0.7624 0.5208 0.7867 0.9168 0.865 0.78 0.5 0.8 0.93 0.7621 0.93 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.845 N -2.83 D -0.933 T 0.000 T 0.034 1.103 9.5 5.55 1.341 4.788 14.652 1.103012 NA 1 0.758372 0.885157 NA 0.819 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117508.2;CLNDSDB=.;CLNDSDBID=. 11.0504614 556 16 48250026 48250026 G T exonic ABCC11 NA nonsynonymous SNV ABCC11:NM_033151:exon6:c.C950A:p.A317E,ABCC11:NM_032583:exon7:c.C950A:p.A317E,ABCC11:NM_145186:exon7:c.C950A:p.A317E exonic ENSG00000121270 NA nonsynonymous SNV ENSG00000121270:ENST00000394747:exon6:c.C950A:p.A317E,ENSG00000121270:ENST00000353782:exon7:c.C950A:p.A317E,ENSG00000121270:ENST00000356608:exon7:c.C950A:p.A317E,ENSG00000121270:ENST00000394748:exon7:c.C950A:p.A317E,ENSG00000121270:ENST00000537808:exon7:c.C950A:p.A317E Score=300;Name=lod=22 NA 16q12.1 NA NA NA NA rs11863236 0.12 0.12 0.118 0.128994 0.1014 0.0446 0.0893 0.298 0.044 0.1 0.02 0.1 0.27 0.0989 0.27 0.2 T 0.0 B 0.0 B 0.001 N 1.000 P -1.39 N -3.08 D -1.018 T 0.000 T 0.167 -0.86 0.527 2.31 -0.053 1.236 5.846 -0.859672 NA 0.51 0.08814 0.251931 NA 0.145 NA 11.0448934 556 2 241401741 241401741 C T exonic GPC1 NA synonymous SNV GPC1:NM_002081:exon3:c.C459T:p.R153R exonic ENSG00000063660 NA synonymous SNV ENSG00000063660:ENST00000264039:exon3:c.C459T:p.R153R,ENSG00000063660:ENST00000426280:exon3:c.C309T:p.R103R Score=541;Name=lod=211 NA 2q37.3 NA NA NA NA rs1042829 0.14 0.14 0.139 0.151757 0.2018 0.0238 0.1412 0.2088 0.1626 0.21 0.01 0.16 0.19 0.2082 0.21 0.02 D . . . . 0.001 D 0.000 P . . 0.72 T -1.069 T 0.000 T . 1.14 9.646 -4.02 -0.567 -1.650 0.462 1.140218 NA NA 0.212322 0.179863 ID=COSM442611;OCCURENCE=1(breast) 0.145 NA 11.0443446 556 1 226352498 226352498 T G exonic ACBD3 NA nonsynonymous SNV ACBD3:NM_022735:exon3:c.A561C:p.E187D exonic ENSG00000182827 NA nonsynonymous SNV ENSG00000182827:ENST00000366812:exon3:c.A561C:p.E187D Score=558;Name=lod=247 NA 1q42.12 NA NA NA NA rs2306120 0.58 0.58 0.562 0.53115 0.6103 0.4504 0.6383 0.615 0.3436 0.63 0.46 0.62 0.61 0.5747 0.63 0.38 T 0.612 P 0.237 B 0.000 D 0.354 P 2.645 M 1.49 T -1.048 T 0.000 T 0.167 3.008 16.03 -6.12 -1.147 -0.049 19.101 3.007681 3.007681 NA 0.604651 0.587835 NA 0.493 NA 11.0436824 556 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 556 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 556 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$TCF11MAFG_01 NA NA NA rs362331 0.46 0.46 0.427 0.441294 0.4334 0.3859 0.4294 0.5862 0.319 0.44 0.38 0.44 0.57 0.4386 0.57 0.58 T 0.0 B 0.0 B 0.000 N 0.999 P -1.355 N 3.59 T -1.024 T 0.000 T 0.275 1.119 9.562 5.7 1.427 3.175 8.214 1.118641 NA 0.93 0.420295 0.565019 ID=COSM447793;OCCURENCE=1(breast) 0.536 NA 11.0410384 556 17 72346868 72346868 C T exonic KIF19 NA nonsynonymous SNV KIF19:NM_153209:exon12:c.C1411T:p.R471W exonic ENSG00000196169 NA nonsynonymous SNV ENSG00000196169:ENST00000551294:exon11:c.C1285T:p.R429W,ENSG00000196169:ENST00000389916:exon12:c.C1411T:p.R471W NA NA 17q25.1 Score=705;Name=V$HOX13_01 NA NA NA rs2382644 0.11 0.11 0.124 0.0972444 0.0954 0.2163 0.1009 0.0408 0.0501 0.1 0.19 0.1 0.05 0.1016 0.19 0.08 T 0.999 D 0.928 D . . 1.000 P 1.845 L -0.63 T -0.172 T 0.001 T 0.33 2.758 15.18 -11.5 -2.595 -0.597 22.657 2.757543 2.757543 0 0.096999 0.039265 NA 0.043 NA 11.0393344 556 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 556 6 31595882 31595882 C A exonic PRRC2A NA nonsynonymous SNV PRRC2A:NM_004638:exon12:c.C1631A:p.T544K,PRRC2A:NM_080686:exon12:c.C1631A:p.T544K exonic ENSG00000204469 NA nonsynonymous SNV ENSG00000204469:ENST00000376007:exon12:c.C1631A:p.T544K,ENSG00000204469:ENST00000376033:exon12:c.C1631A:p.T544K Score=602;Name=lod=373 NA 6p21.33 Score=747;Name=V$NRSF_01 Name=Pol2(b) NA NA rs1046080 0.81 0.81 0.791 0.815495 0.7674 0.9732 0.8184 0.674 0.8916 0.77 0.96 0.82 0.68 0.7879 0.96 0 D 0.0 B 0.0 B 0.000 N 1.000 P -1.1 N 3.01 T -0.958 T 0.004 T 0.048 1.185 9.816 4.62 0.914 1.656 4.941 1.184562 NA 0.92 0.742709 0.684315 NA 0.797 NA 11.0353244 557 19 10084292 10084292 C G exonic COL5A3 NA nonsynonymous SNV COL5A3:NM_015719:exon50:c.G3620C:p.R1207P exonic ENSG00000080573 NA nonsynonymous SNV ENSG00000080573:ENST00000264828:exon50:c.G3620C:p.R1207P Score=415;Name=lod=65 NA 19p13.2 NA NA NA NA rs2287813 0.47 0.47 0.489 0.483626 0.4304 0.3472 0.3199 0.7292 0.4632 0.43 0.38 0.35 0.73 0.4355 0.73 1 T 0.0 B 0.0 B 0.001 N 0.365 P -1 N -2.57 D -0.960 T 0.000 T 0.029 -0.254 2.777 4.95 1.226 3.938 13.569 -0.254454 NA 1 0.433372 0.683613 NA 0.391 NA 11.0340614 557 22 46682976 46682976 C T exonic TTC38 NA nonsynonymous SNV TTC38:NM_017931:exon10:c.C841T:p.P281S exonic ENSG00000075234 NA nonsynonymous SNV ENSG00000075234:ENST00000445282:exon9:c.C667T:p.P223S,ENSG00000075234:ENST00000381031:exon10:c.C841T:p.P281S Score=389;Name=lod=51 NA 22q13.31 NA NA NA NA rs55653327 0.05 0.05 0.048 0.0379393 0.1133 0.001 0.0562 0.003 0.0327 0.12 NA 0.07 NA 0.0859 0.12 0.73 T 0.366 B 0.208 B 0.001 N 0.000 P 1.74 L 0.88 T -0.911 T 0.007 T 0.216 3.284 17.03 4.7 2.153 4.894 16.226 3.284063 3.284063 0.26 0.10066 0.016588 NA 0.022 NA 11.0334734 557 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 557 1 92327045 92327045 G A exonic TGFBR3 NA nonsynonymous SNV TGFBR3:NM_001195683:exon2:c.C44T:p.S15F,TGFBR3:NM_003243:exon2:c.C44T:p.S15F,TGFBR3:NM_001195684:exon3:c.C44T:p.S15F exonic ENSG00000069702 NA nonsynonymous SNV ENSG00000069702:ENST00000525962:exon1:c.C44T:p.S15F,ENSG00000069702:ENST00000533089:exon1:c.C44T:p.S15F,ENSG00000069702:ENST00000212355:exon2:c.C44T:p.S15F,ENSG00000069702:ENST00000465892:exon2:c.C44T:p.S15F,ENSG00000069702:ENST00000532540:exon2:c.C44T:p.S15F,ENSG00000069702:ENST00000370399:exon3:c.C44T:p.S15F,ENSG00000069702:ENST00000417833:exon3:c.C44T:p.S15F Score=352;Name=lod=36 NA 1p22.1 NA NA NA NA rs1805110 0.2 0.2 0.202 0.185903 0.0845 0.37 0.1412 0.1755 0.1462 0.09 0.42 0.11 0.19 0.1308 0.42 0.7 T 0.4 B 0.181 B 0.368 N 0.575 P 0.345 N 1.47 T -1.065 T 0.027 T 0.442 -0.104 3.491 3.18 2.570 1.483 6.015 -0.103836 NA 0.12 0.084767 0.174989 ID=COSM146560;OCCURENCE=1(stomach) 0.181 NA 11.0332664 557 3 16327855 16327855 T G exonic OXNAD1 NA nonsynonymous SNV OXNAD1:NM_138381:exon5:c.T190G:p.S64A exonic ENSG00000154814 NA nonsynonymous SNV ENSG00000154814:ENST00000452581:exon4:c.T126G:p.C42W,ENSG00000154814:ENST00000544043:exon4:c.T244G:p.S82A,ENSG00000154814:ENST00000285083:exon5:c.T190G:p.S64A,ENSG00000154814:ENST00000435829:exon5:c.T244G:p.S82A,ENSG00000154814:ENST00000605932:exon5:c.T190G:p.S64A,ENSG00000154814:ENST00000606098:exon5:c.T190G:p.S64A Score=313;Name=lod=25 NA 3p25.1 NA Name=BATF,Pol2-4H8 Name=10 NA rs842274 0.42 0.42 0.361 0.433107 0.4334 0.4762 0.4712 0.3056 0.5337 0.42 0.5 0.47 0.28 0.4417 0.5 0.43 T 0.003 B 0.006 B 0.000 N 0.646 P 0.895 L 2.29 T -0.911 T 0.000 T 0.256 2.248 13.47 2.89 0.317 1.867 6.693 2.248105 2.248105 0.4 0.425 0.351112 NA 0.377 NA 11.0332334 557 19 9070402 9070402 G T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.C17044A:p.P5682T exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C17044A:p.P5682T NA NA 19p13.2 NA NA NA NA rs12150888 0.16 0.16 0.16 0.163538 0.2634 0.0089 0.2536 0.1142 0.2229 0.27 0.01 0.25 0.11 0.2454 0.29 0 D 0.998 D 0.839 P . . . . . . 1.33 T -1.074 T 0.000 T 0.006 -0.616 1.261 -2.48 -0.422 -2.309 0.903 -0.615735 NA 0 0.291637 0.129371 NA 0.13 NA 11.0328964 557 9 140127051 140127051 G A exonic SLC34A3 NA nonsynonymous SNV SLC34A3:NM_001177316:exon4:c.G200A:p.R67H,SLC34A3:NM_001177317:exon4:c.G200A:p.R67H,SLC34A3:NM_080877:exon4:c.G200A:p.R67H exonic ENSG00000198569 NA nonsynonymous SNV ENSG00000198569:ENST00000361134:exon4:c.G200A:p.R67H,ENSG00000198569:ENST00000538474:exon4:c.G200A:p.R67H NA NA 9q34.3 NA Name=E2F6_(H-50) Name=5 NA rs34372115 0.1 0.1 0.08 0.101038 0.1093 0.2004 0.0447 0.0045 0.1605 0.11 0.19 0.05 0.01 0.1025 0.19 0.62 T 0.007 B 0.002 B 0.455 N 1.000 P 0.205 N 1.44 T -1.029 T 0.000 T 0.054 0.282 5.524 -7.47 -2.569 0.079 6.853 0.281558 NA 0.61 0.089465 0.016386 NA 0.051 NA 11.0320684 557 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 557 11 73620537 73620537 C G exonic PAAF1 NA nonsynonymous SNV PAAF1:NM_001267806:exon7:c.C281G:p.A94G,PAAF1:NM_025155:exon7:c.C626G:p.A209G,PAAF1:NM_001267803:exon8:c.C575G:p.A192G,PAAF1:NM_001267804:exon8:c.C575G:p.A192G,PAAF1:NM_001267805:exon8:c.C575G:p.A192G exonic ENSG00000175575 NA nonsynonymous SNV ENSG00000175575:ENST00000544909:exon5:c.C629G:p.A210G,ENSG00000175575:ENST00000376384:exon6:c.C575G:p.A192G,ENSG00000175575:ENST00000546039:exon6:c.C218G:p.A73G,ENSG00000175575:ENST00000310571:exon7:c.C626G:p.A209G,ENSG00000175575:ENST00000535604:exon7:c.C281G:p.A94G,ENSG00000175575:ENST00000541951:exon7:c.C281G:p.A94G,ENSG00000175575:ENST00000542293:exon7:c.C281G:p.A94G,ENSG00000175575:ENST00000504441:exon8:c.C575G:p.A192G,ENSG00000175575:ENST00000536003:exon8:c.C575G:p.A192G,ENSG00000175575:ENST00000543814:exon8:c.C575G:p.A192G,ENSG00000175575:ENST00000544552:exon8:c.C575G:p.A192G Score=571;Name=lod=279 NA 11q13.4 NA NA NA NA rs3741138 0.12 0.12 0.104 0.121805 0.0984 0.1716 0.0778 0.1188 0.1299 0.09 0.18 0.11 0.11 0.1094 0.18 0.21 T 0.075 B 0.027 B 0.001 N 0.049 P 1.7 L 2.21 T -1.022 T 0.002 T 0.181 1.754 11.82 4.15 1.135 2.779 14.292 1.753587 1.753587 0.04 0.09795 0.101818 NA 0.138 NA 11.0275834 558 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 558 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 558 11 60610056 60610056 G C exonic CCDC86 NA nonsynonymous SNV CCDC86:NM_024098:exon1:c.G459C:p.Q153H exonic ENSG00000110104 NA nonsynonymous SNV ENSG00000110104:ENST00000227520:exon1:c.G459C:p.Q153H NA NA 11q12.2 NA NA NA NA rs2074421 0.09 0.09 0.075 0.0804712 0.1024 0.0496 0.196 0.0461 0.0542 0.11 0.06 0.16 0.05 0.1112 0.16 0.07 T 0.997 D 0.957 D 0.023 N 0.000 P 1.87 L 0.84 T -1.050 T 0.001 T 0.115 1.674 11.56 2.46 1.686 -0.240 11.047 1.673993 1.673993 0.02 0.102941 0.055556 NA 0.101 NA 11.0167924 558 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 559 9 134334588 134334588 A G exonic PRRC2B NA nonsynonymous SNV PRRC2B:NM_013318:exon10:c.A1249G:p.M417V exonic ENSG00000130723 NA nonsynonymous SNV ENSG00000130723:ENST00000357304:exon10:c.A1249G:p.M417V,ENSG00000130723:ENST00000458550:exon10:c.A1249G:p.M417V,ENSG00000130723:ENST00000405995:exon11:c.A1249G:p.M417V NA NA 9q34.13 Score=722;Name=V$NRSF_01 NA NA NA rs34553878 0.06 0.06 0.042 0.0583067 0.1153 0.006 0.0793 0.0257 0.0828 0.11 0.01 0.08 0.03 0.092 0.11 0.29 T 0.0 B 0.0 B 0.278 U 1.000 D 0.69 N 4.67 T -0.902 T 0.000 T 0.056 1.489 10.93 -11.2 -1.794 -1.201 0.542 1.489273 1.489273 0.29 0.1138 0.049113 NA 0.065 NA 11.0122334 559 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 559 4 109674116 109674116 A G exonic AGXT2L1 NA nonsynonymous SNV AGXT2L1:NM_001146627:exon5:c.T379C:p.S127P,AGXT2L1:NM_001146590:exon6:c.T535C:p.S179P,AGXT2L1:NM_031279:exon6:c.T553C:p.S185P exonic ENSG00000164089 NA nonsynonymous SNV ENSG00000164089:ENST00000512646:exon5:c.T379C:p.S127P,ENSG00000164089:ENST00000296486:exon6:c.T553C:p.S185P,ENSG00000164089:ENST00000411864:exon6:c.T535C:p.S179P,ENSG00000164089:ENST00000510706:exon6:c.T433C:p.S145P Score=541;Name=lod=211 NA 4q25 NA NA NA NA rs1377210 0.26 0.26 0.272 0.265375 0.0805 0.498 0.1499 0.2988 0.2526 0.08 0.52 0.12 0.32 0.1593 0.52 . . 0.0 B 0.0 B 0.000 N 0.997 P -1.305 N -2.16 D -0.969 T 0.000 T 0.052 -0.742 0.84 4.61 0.665 4.751 10.662 -0.742376 NA 0.83 0.088023 0.273264 NA 0.225 NA 11.0055104 560 17 40065774 40065774 T G exonic ACLY NA nonsynonymous SNV ACLY:NM_001096:exon5:c.A525C:p.E175D,ACLY:NM_198830:exon5:c.A525C:p.E175D exonic ENSG00000131473 NA nonsynonymous SNV ENSG00000131473:ENST00000352035:exon5:c.A525C:p.E175D,ENSG00000131473:ENST00000353196:exon5:c.A525C:p.E175D,ENSG00000131473:ENST00000393896:exon5:c.A525C:p.E175D,ENSG00000131473:ENST00000590151:exon5:c.A525C:p.E175D NA NA 17q21.2 Score=874;Name=V$EVI1_05 NA NA NA rs2304497 0.09 0.09 0.087 0.0940495 0.1143 0.0605 0.0519 0.1089 0.1176 0.12 0.07 0.06 0.11 0.1039 0.2 0.65 T 0.0 B 0.0 B 0.422 N 0.000 P -0.28 N -0.42 T -1.058 T 0.001 T 0.024 0.103 4.556 -7.37 -0.986 -1.122 5.213 0.103286 NA 0.62 0.110349 0.096005 NA 0.174 NA 11.0047844 560 2 227886773 227886773 A G exonic COL4A4 NA nonsynonymous SNV COL4A4:NM_000092:exon44:c.T4207C:p.S1403P exonic ENSG00000081052 NA nonsynonymous SNV ENSG00000081052:ENST00000329662:exon43:c.T4198C:p.S1400P,ENSG00000081052:ENST00000396625:exon44:c.T4207C:p.S1403P Score=383;Name=lod=48 NA 2q36.3 NA NA NA NA rs3752895 0.48 0.48 0.436 0.526158 0.4334 0.4058 0.4841 0.6891 0.5552 0.44 0.4 0.48 0.64 0.4763 0.64 0.61 T 0.0 B 0.0 B . . 1.000 P -0.835 N -2.57 D -0.950 T 0.000 T 0.109 -0.191 3.071 5.63 1.525 3.419 11.077 -0.19121 NA 0.49 0.419205 0.607581 NA 0.493 NA 11.0044284 560 15 38988815 38988815 C G exonic C15orf53 NA nonsynonymous SNV C15orf53:NM_207444:exon1:c.C7G:p.L3V exonic ENSG00000175779 NA nonsynonymous SNV ENSG00000175779:ENST00000318792:exon1:c.C7G:p.L3V NA NA 15q14 NA Name=NFKB Name=63 NA rs7165988 0.2 0.2 0.187 0.194089 0.2624 0.0992 0.2536 0.1755 0.2045 0.25 0.1 0.27 0.19 0.2637 0.3 0 D 0.969 D 0.685 P . . 1.000 P 0 N 1.09 T -0.999 T 0.000 T 0.046 0.445 6.416 -0.565 -0.065 -0.638 5.899 0.444857 NA NA 0.303002 0.208409 ID=COSM147873;OCCURENCE=1(stomach) 0.239 NA 11.0042314 560 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 560 3 183476685 183476685 G A exonic YEATS2 NA nonsynonymous SNV YEATS2:NM_018023:exon13:c.G1588A:p.V530I exonic ENSG00000163872 NA nonsynonymous SNV ENSG00000163872:ENST00000305135:exon13:c.G1588A:p.V530I Score=516;Name=lod=166 NA 3q27.1 NA NA NA NA rs262993 0.42 0.42 0.429 0.425719 0.4533 0.5188 0.4467 0.261 0.5092 0.44 0.54 0.45 0.24 0.4372 0.54 0.01 D 0.094 B 0.01 B 0.088 N 1.000 P 0 N 1.59 T -0.957 T 0.000 T 0.018 3.001 16.01 4.15 2.449 5.373 14.675 3.001348 3.001348 0.03 0.440666 0.284346 NA 0.601 NA 11.0021674 560 3 93768268 93768268 C G exonic ARL13B NA nonsynonymous SNV ARL13B:NM_144996:exon6:c.C722G:p.T241S,ARL13B:NM_001174151:exon7:c.C734G:p.T245S,ARL13B:NM_001174150:exon8:c.C1043G:p.T348S,ARL13B:NM_182896:exon8:c.C1043G:p.T348S exonic ENSG00000169379 NA nonsynonymous SNV ENSG00000169379:ENST00000303097:exon6:c.C722G:p.T241S,ENSG00000169379:ENST00000535334:exon7:c.C734G:p.T245S,ENSG00000169379:ENST00000539730:exon7:c.C206G:p.T69S,ENSG00000169379:ENST00000394222:exon8:c.C1043G:p.T348S,ENSG00000169379:ENST00000471138:exon8:c.C1043G:p.T348S Score=514;Name=lod=163 NA 3q11.1 NA NA NA NA rs33944211 0.07 0.07 0.072 0.0776757 0.1103 0.0863 0.0764 0.003 0.137 0.1 0.09 0.09 0.01 0.101 0.12 0.09 T 0.091 B 0.053 B 0.218 N 0.000 P 1.845 L 1.71 T -0.954 T 0.004 T 0.068 1.675 11.56 3.02 1.127 0.592 12.434 1.674564 1.674564 0.14 0.120116 0.022242 NA 0.094 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116417.2;CLNDSDB=.;CLNDSDBID=. 11.0019174 560 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=E2F1,c-Jun,HA-E2F1,TBP,BRCA1_(C-1863),p300_(N-15) 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 560 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=GR,MafK_(SC-477),ERalpha_a,MafF_(M8194),MafK_(ab50322) 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 560 1 4772717 4772717 G A exonic AJAP1 NA nonsynonymous SNV AJAP1:NM_001042478:exon2:c.G787A:p.G263R,AJAP1:NM_018836:exon2:c.G787A:p.G263R exonic ENSG00000196581 NA nonsynonymous SNV ENSG00000196581:ENST00000378190:exon2:c.G787A:p.G263R,ENSG00000196581:ENST00000378191:exon2:c.G787A:p.G263R Score=336;Name=lod=31 NA 1p36.32 NA NA NA NA rs242056 0.41 0.41 0.414 0.360823 0.6431 0.2728 0.3761 0.1664 0.4131 0.63 0.26 0.43 0.2 0.5284 0.67 0.32 T 0.999 D 0.892 P 0.004 N 0.829 P 0.55 N 0.9 T -1.012 T 0.000 T 0.13 1.268 10.14 4.76 2.179 3.781 13.265 1.268191 1.268191 0.29 0.665 0.248979 NA 0.522 NA 10.9968334 560 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 561 10 50901917 50901917 C A exonic C10orf53 NA stopgain C10orf53:NM_001042427:exon2:c.C195A:p.C65X,C10orf53:NM_182554:exon2:c.C195A:p.C65X exonic ENSG00000178645 NA stopgain ENSG00000178645:ENST00000374111:exon2:c.C195A:p.C65X,ENSG00000178645:ENST00000374112:exon2:c.C195A:p.C65X,ENSG00000178645:ENST00000374113:exon2:c.C195A:p.C65X,ENSG00000178645:ENST00000535836:exon2:c.C195A:p.C65X Score=385;Name=lod=49 NA 10q11.23 NA NA NA NA rs145689841 0.0009 0.0009 NA 0.000798722 0.002 NA NA 0.0008 0.001 0.0013 NA NA 0.002 0.0018 0.0022 1 T . . . . 0.000 D 1.000 A . . . . . . . . . 3.064 16.23 1.62 0.286 0.168 8.191 3.064415 3.064415 0 0.002209 0.000454 NA NA NA 10.993991 561 18 7008591 7008591 T C exonic LAMA1 NA nonsynonymous SNV LAMA1:NM_005559:exon28:c.A4018G:p.M1340V exonic ENSG00000101680 NA nonsynonymous SNV ENSG00000101680:ENST00000389658:exon28:c.A4018G:p.M1340V NA NA 18p11.31 Score=794;Name=V$CMYB_01 NA NA NA rs662471 0.2 0.2 0.2 0.187101 0.3012 0.0099 0.1945 0.2292 0.1902 0.3 0.01 0.23 0.22 0.2384 0.3 0.03 D 0.549 P 0.393 B 0.001 N 0.995 P 2.955 M 1.25 T -1.097 T 0.000 T 0.053 3.116 16.41 -7.83 -0.925 -0.035 5.113 3.115673 3.115673 NA 0.299767 0.243305 NA 0.167 NA 10.9939664 561 16 48174765 48174765 C A exonic ABCC12 NA stopgain ABCC12:NM_033226:exon4:c.G490T:p.G164X exonic ENSG00000140798 NA stopgain ENSG00000140798:ENST00000311303:exon4:c.G490T:p.G164X,ENSG00000140798:ENST00000416054:exon4:c.G490T:p.G164X,ENSG00000140798:ENST00000448542:exon4:c.G490T:p.G164X,ENSG00000140798:ENST00000497206:exon4:c.G490T:p.G164X,ENSG00000140798:ENST00000529504:exon4:c.G490T:p.G164X,ENSG00000140798:ENST00000532494:exon4:c.G490T:p.G164X,ENSG00000140798:ENST00000534418:exon4:c.G490T:p.G164X,ENSG00000140798:ENST00000533639:exon5:c.G490T:p.G164X,ENSG00000140798:ENST00000529084:exon6:c.G490T:p.G164X NA NA 16q12.1 NA NA NA NA rs141807269 NA NA NA 0.00119808 0.002 NA NA 0.0008 0.0031 NA NA NA NA 0.0032 0.002 0.35 T . . . . 0.005 N 1.000 A . . . . . . . . . 0.543 6.938 -5.7 -0.942 1.083 9.205 0.54275 NA 0.08 0.001977 0.000227 NA NA NA 10.992823 561 19 43269705 43269705 G A exonic PSG8 NA nonsynonymous SNV PSG8:NM_001130167:exon1:c.C29T:p.T10I,PSG8:NM_001130168:exon1:c.C29T:p.T10I,PSG8:NM_182707:exon1:c.C29T:p.T10I exonic ENSG00000124467 NA nonsynonymous SNV ENSG00000124467:ENST00000306511:exon1:c.C29T:p.T10I,ENSG00000124467:ENST00000404209:exon1:c.C29T:p.T10I,ENSG00000124467:ENST00000406636:exon1:c.C29T:p.T10I,ENSG00000124467:ENST00000478387:exon1:c.C29T:p.T10I NA NA 19q13.2 NA NA NA NA rs7245423 0.27 0.27 0.247 0.356829 0.3091 0.0913 0.2709 0.7315 0.2342 0.25 0.07 0.28 0.55 0.2997 0.57 0.05 D 0.987 D 0.81 P . . 1.000 P 1.7 L 3.3 T -0.919 T 0.000 T 0.089 0.269 5.454 -2.7 -2.180 -0.768 1.468 0.268926 NA 0.04 0.232743 0.573792 NA NA NA 10.9917904 561 20 10386013 10386013 C A exonic MKKS NA nonsynonymous SNV MKKS:NM_018848:exon6:c.G1595T:p.G532V,MKKS:NM_170784:exon6:c.G1595T:p.G532V exonic ENSG00000125863 NA nonsynonymous SNV ENSG00000125863:ENST00000347364:exon6:c.G1595T:p.G532V,ENSG00000125863:ENST00000399054:exon6:c.G1595T:p.G532V NA NA 20p12.2 NA Name=CTCF,Rad21 NA NA rs1545 0.17 0.17 0.163 0.192692 0.0875 0.256 0.1153 0.2148 0.2607 0.09 0.23 0.13 0.26 0.1437 0.26 0.04 D 0.142 B 0.059 B 0.357 N 1.000 P 1.79 L -2.65 D -1.020 T 0.000 T 0.103 0.93 8.788 -1.62 -0.485 -0.375 4.761 0.929785 NA 0.05 0.11186 0.171811 NA 0.152 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081972.1;CLNDSDB=.;CLNDSDBID=. 10.9902734 561 17 29161845 29161845 G A exonic ATAD5 NA nonsynonymous SNV ATAD5:NM_024857:exon2:c.G746A:p.R249K exonic ENSG00000176208 NA nonsynonymous SNV ENSG00000176208:ENST00000321990:exon2:c.G746A:p.R249K,ENSG00000176208:ENST00000578295:exon2:c.G746A:p.R249K NA NA 17q11.2 NA Name=GATA-1 NA NA rs17826219 0.13 0.13 0.107 0.144169 0.1074 0.1359 0.1859 0.0711 0.2597 0.09 0.16 0.18 0.09 0.1318 0.18 0.32 T 0.372 B 0.058 B 0.377 N 1.000 P 1.78 L 2.37 T -1.020 T 0.000 T 0.119 -0.327 2.45 3.3 1.378 2.594 7.933 -0.326665 NA 0.04 0.10407 0.073569 NA 0.138 NA 10.9900634 561 20 10386059 10386059 G A exonic MKKS NA nonsynonymous SNV MKKS:NM_018848:exon6:c.C1549T:p.R517C,MKKS:NM_170784:exon6:c.C1549T:p.R517C exonic ENSG00000125863 NA nonsynonymous SNV ENSG00000125863:ENST00000347364:exon6:c.C1549T:p.R517C,ENSG00000125863:ENST00000399054:exon6:c.C1549T:p.R517C NA NA 20p12.2 NA Name=Rad21,CTCF NA NA rs1547 0.17 0.17 0.176 0.195088 0.0875 0.2679 0.1153 0.2148 0.2607 0.09 0.24 0.13 0.26 0.1441 0.26 0.18 T 0.0 B 0.001 B 0.140 N 1.000 P 0.205 N -2.09 D -1.066 T 0.000 T 0.03 0.188 5.015 -2.76 -0.415 -0.074 9.489 0.188427 NA 0.18 0.11186 0.171811 ID=COSM149137;OCCURENCE=1(stomach) 0.152 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081971.1;CLNDSDB=.;CLNDSDBID=. 10.9898734 561 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 561 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 562 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 562 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 562 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 562 4 68995529 68995529 C T exonic TMPRSS11F NA nonsynonymous SNV TMPRSS11F:NM_207407:exon1:c.G10A:p.A4T exonic ENSG00000198092 NA nonsynonymous SNV ENSG00000198092:ENST00000356291:exon1:c.G10A:p.A4T Score=470;Name=lod=108 NA 4q13.2 Score=792;Name=V$HTF_01 Name=GATA3_(SC-268),eGFP-GATA2 NA NA rs10030708 0.33 0.33 0.329 0.328874 0.2793 0.4593 0.2061 0.3238 0.3395 0.29 0.48 0.21 0.29 0.2981 0.48 0.28 T 0.905 P 0.161 B 0.065 N 0.911 P 0 N -2.4 D -0.983 T 0.000 T 0.092 1.522 11.04 1.66 0.102 0.109 3.955 1.521943 1.521943 0.32 0.277674 0.367 NA 0.377 NA 10.9782594 562 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=SMC3_(ab9263),CTCF,Pol2 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 562 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 563 19 10224526 10224526 C T exonic P2RY11,PPAN-P2RY11 NA nonsynonymous SNV PPAN-P2RY11:NM_001198690:exon13:c.C1559T:p.P520L exonic ENSG00000130810,ENSG00000243207,ENSG00000244165 NA nonsynonymous SNV ENSG00000243207:ENST00000428358:exon13:c.C1559T:p.P520L Score=474;Name=lod=113 NA 19p13.2 NA Name=Pol2-4H8,Pol2 Name=38 NA rs3745600 0.38 0.38 0.355 0.365415 0.4901 0.3462 0.5144 0.149 0.4438 0.48 0.34 0.51 0.17 0.4194 0.51 0 D 0.0 B 0.002 B . . 0.000 P . . 1.39 T -0.895 T 0.000 T . 3.261 16.94 -4.37 -0.519 -0.364 3.546 3.261297 3.261297 0 0.452536 0.220608 NA 0.377 NA 10.9712974 563 14 55605036 55605036 A C exonic LGALS3 NA nonsynonymous SNV LGALS3:NM_001177388:exon3:c.A292C:p.T98P,LGALS3:NM_002306:exon3:c.A292C:p.T98P exonic ENSG00000131981 NA nonsynonymous SNV ENSG00000131981:ENST00000254301:exon3:c.A292C:p.T98P,ENSG00000131981:ENST00000554715:exon3:c.A292C:p.T98P Score=340;Name=lod=32 NA 14q22.3 NA Name=Rad21,CTCF,CTCF_(SC-5916) Name=12 NA rs4652 0.54 0.54 0.56 0.569688 0.4394 0.4127 0.389 0.9463 0.4847 0.44 0.43 0.41 0.93 0.4558 0.93 1 T 0.0 B 0.0 B 0.001 N 1.000 P -0.55 N 3.88 T -0.980 T 0.000 T 0.055 -1.239 0.055 3.29 0.174 1.335 8.468 -1.239258 NA 1 0.46706 0.857688 NA 0.558 NA 10.9710734 563 17 3526637 3526637 C T exonic SHPK NA nonsynonymous SNV SHPK:NM_013276:exon4:c.G643A:p.E215K exonic ENSG00000197417,ENSG00000262304 NA nonsynonymous SNV ENSG00000197417:ENST00000225519:exon4:c.G643A:p.E215K,ENSG00000262304:ENST00000572919:exon4:c.G643A:p.E215K Score=401;Name=lod=57 NA 17p13.2 NA NA NA NA rs150857 0.24 0.24 0.246 0.276957 0.1113 0.2361 0.1744 0.4962 0.2658 0.11 0.21 0.15 0.51 0.1579 0.51 0.07 T 0.282 B 0.243 B 0.013 N 0.797 P 1.765 L 0.75 T -0.873 T 0.000 T 0.121 1.938 12.44 4.12 2.562 2.415 15.477 1.93787 1.93787 0.04 0.096744 0.433954 NA 0.239 NA 10.9673894 563 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 564 1 108185309 108185309 G A exonic VAV3 NA nonsynonymous SNV VAV3:NM_001079874:exon3:c.C166T:p.P56S,VAV3:NM_006113:exon20:c.C1846T:p.P616S exonic ENSG00000134215 NA nonsynonymous SNV ENSG00000134215:ENST00000544443:exon2:c.C58T:p.P20S,ENSG00000134215:ENST00000415432:exon3:c.C166T:p.P56S,ENSG00000134215:ENST00000370056:exon20:c.C1846T:p.P616S,ENSG00000134215:ENST00000527011:exon20:c.C1846T:p.P616S Score=361;Name=lod=39 NA 1p13.3 NA NA NA NA rs12410676 0.12 0.12 0.12 0.141973 0.1093 0.2073 0.1599 0.0439 0.228 0.1 0.21 0.14 0.04 0.136 0.21 0.21 T 0.138 B 0.055 B 0.001 D 0.000 P 1.11 L 2.6 T -1.061 T 0.024 T 0.14 -1.67 0.012 3.79 0.760 2.877 7.840 -1.670431 NA 0.41 0.124302 0.067862 NA 0.116 NA 10.9637314 564 11 7949350 7949350 A G exonic OR10A6 NA nonsynonymous SNV OR10A6:NM_001004461:exon1:c.T860C:p.L287P exonic ENSG00000175393 NA nonsynonymous SNV ENSG00000175393:ENST00000309838:exon1:c.T860C:p.L287P Score=376;Name=lod=45 NA 11p15.4 NA Name=c-Jun,CEBPB Name=33 NA rs4758258 0.78 0.78 0.745 0.78774 0.7982 0.7619 0.8545 0.7504 0.8067 0.79 0.79 0.82 0.72 0.792 0.82 1 T 0.0 B 0.0 B 0.001 N 0.001 P -2.72 N 2.5 T -0.982 T 0.000 T 0.099 -1.579 0.014 4.43 1.229 7.045 10.677 -1.579196 NA 1 0.779912 0.737392 NA 0.855 NA 10.9632214 564 3 169098992 169098992 G A exonic MECOM NA nonsynonymous SNV MECOM:NM_004991:exon2:c.C358T:p.P120S exonic ENSG00000085276 NA nonsynonymous SNV ENSG00000085276:ENST00000494292:exon2:c.C358T:p.P120S Score=387;Name=lod=50 NA 3q26.2 NA NA NA NA rs7622799 0.16 0.16 0.138 0.152955 0.1233 0.1558 0.3329 0.1362 0.0757 0.13 0.16 0.25 0.12 0.1333 0.25 0.11 T 0.275 B 0.096 B 0.001 N 0.000 P 0.255 N -0.59 T -1.081 T 0.000 T 0.048 -0.554 1.493 4.52 1.252 2.496 13.237 -0.554124 NA NA 0.11352 0.12956 ID=COSM149513;OCCURENCE=1(stomach) 0.196 NA 10.9632134 564 21 30339234 30339234 T C exonic LTN1 NA nonsynonymous SNV LTN1:NM_015565:exon10:c.A1717G:p.S573G exonic ENSG00000198862 NA nonsynonymous SNV ENSG00000198862:ENST00000361371:exon10:c.A1579G:p.S527G,ENSG00000198862:ENST00000389194:exon10:c.A1717G:p.S573G,ENSG00000198862:ENST00000389195:exon10:c.A1717G:p.S573G NA NA 21q21.3 NA NA NA NA rs61735768 0.2 0.2 0.17 0.153554 0.1233 0.3839 0.2233 0.0424 0.0481 0.13 0.41 0.2 0.04 0.1332 0.41 0.03 D 0.0 B 0.001 B 0.002 N 1.000 P 0.345 N 2.19 T -0.954 T 0.000 T 0.123 1.815 12.03 4.83 2.145 1.358 10.160 1.814859 1.814859 0.01 0.113721 0.063096 ID=COSM149215;OCCURENCE=1(stomach) 0.094 NA 10.9631124 564 6 71238105 71238105 A G exonic FAM135A NA nonsynonymous SNV FAM135A:NM_001162529:exon14:c.A3725G:p.D1242G,FAM135A:NM_020819:exon15:c.A3086G:p.D1029G,FAM135A:NM_001105531:exon16:c.A3137G:p.D1046G exonic ENSG00000082269 NA nonsynonymous SNV ENSG00000082269:ENST00000505868:exon13:c.A3725G:p.D1242G,ENSG00000082269:ENST00000457062:exon15:c.A3086G:p.D1029G,ENSG00000082269:ENST00000361499:exon16:c.A3137G:p.D1046G,ENSG00000082269:ENST00000370479:exon16:c.A3086G:p.D1029G,ENSG00000082269:ENST00000418814:exon16:c.A3725G:p.D1242G,ENSG00000082269:ENST00000505769:exon16:c.A2465G:p.D822G Score=417;Name=lod=66 NA 6q13 NA NA NA NA rs2747701 0.36 0.36 0.353 0.339257 0.4761 0.5427 0.2507 0.0189 0.4847 0.48 0.53 0.27 0.02 0.415 0.53 0.04 D 0.305 B 0.157 B 0.000 N 0.000 P 2.075 M 2.16 T -1.098 T 0.036 T 0.088 1.872 12.22 3.77 0.843 6.153 10.304 1.872457 1.872457 0.01 0.481163 0.086473 NA 0.326 NA 10.9610704 564 1 207646923 207646923 G A exonic CR2 NA nonsynonymous SNV CR2:NM_001006658:exon11:c.G2012A:p.R671H exonic ENSG00000117322 NA nonsynonymous SNV ENSG00000117322:ENST00000367057:exon11:c.G2012A:p.R671H NA NA 1q32.2 NA NA NA NA rs17616 0.27 0.27 0.29 0.257588 0.2903 0.1071 0.2017 0.4228 0.1953 0.3 0.11 0.25 0.42 0.2686 0.42 0.16 T 0.992 D 0.674 P . . 1.000 P 0.95 L -0.12 T -1.097 T 0.000 T 0.033 3.698 18.79 -8.57 -1.688 -1.366 9.186 3.697997 3.697997 0.11 0.314767 0.379483 NA 0.297 NA 10.9596664 565 6 42666061 42666061 T C exonic PRPH2 NA nonsynonymous SNV PRPH2:NM_000322:exon3:c.A1013G:p.D338G exonic ENSG00000112619 NA nonsynonymous SNV ENSG00000112619:ENST00000230381:exon3:c.A1013G:p.D338G Score=243;Name=lod=13 NA 6p21.1 Score=844;Name=V$CREB_Q2 Name=CTCF NA NA rs434102 0.78 0.78 0.775 0.757388 0.7982 0.8462 0.7248 0.7042 0.7188 0.79 0.85 0.72 0.73 0.779 0.85 0.21 T . . . . 0.009 N 0.382 P . . 4.07 T -0.884 T 0.007 T 0.042 0.767 8.055 4.28 0.901 1.262 7.600 0.76675 NA 0.24 0.801163 0.729233 NA 0.819 CLINSIG=other;CLNDBN=not_provided;CLNREVSTAT=mult;CLNACC=RCV000127756.2;CLNDSDB=.;CLNDSDBID=. 10.9549704 565 9 2191309 2191309 C G exonic SMARCA2 NA nonsynonymous SNV SMARCA2:NM_139045:exon32:c.C4584G:p.D1528E,SMARCA2:NM_003070:exon33:c.C4638G:p.D1546E exonic ENSG00000080503 NA nonsynonymous SNV ENSG00000080503:ENST00000382183:exon6:c.C576G:p.D192E,ENSG00000080503:ENST00000302401:exon7:c.C702G:p.D234E,ENSG00000080503:ENST00000417599:exon7:c.C696G:p.D232E,ENSG00000080503:ENST00000324954:exon8:c.C576G:p.D192E,ENSG00000080503:ENST00000382185:exon8:c.C576G:p.D192E,ENSG00000080503:ENST00000382186:exon8:c.C630G:p.D210E,ENSG00000080503:ENST00000382194:exon31:c.C4584G:p.D1528E,ENSG00000080503:ENST00000357248:exon32:c.C4584G:p.D1528E,ENSG00000080503:ENST00000349721:exon33:c.C4638G:p.D1546E,ENSG00000080503:ENST00000382203:exon33:c.C4638G:p.D1546E Score=637;Name=lod=516 NA 9p24.3 Score=807;Name=V$HNF4_01_B NA NA NA rs2296212 0.18 0.18 0.155 0.223642 0.0984 0.2163 0.2061 0.3071 0.2597 0.09 0.2 0.19 0.29 0.1684 0.29 1 T 0.0 B 0.0 B 0.003 N 0.999 P -0.41 N 3.35 T -1.098 T 0.000 T 0.062 0.229 5.237 3.76 0.742 0.094 12.624 0.229183 NA 1 0.11186 0.269405 NA 0.101 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114292.2;CLNDSDB=.;CLNDSDBID=. 10.9546734 565 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 565 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 565 2 26741961 26741961 G A exonic OTOF NA nonsynonymous SNV OTOF:NM_194248:exon4:c.C244T:p.R82C exonic ENSG00000115155 NA nonsynonymous SNV ENSG00000115155:ENST00000272371:exon4:c.C244T:p.R82C,ENSG00000115155:ENST00000403946:exon4:c.C244T:p.R82C Score=578;Name=lod=299 NA 2p23.3 Score=847;Name=V$NFKB_Q6 NA NA Score=112;Name=1189727_0_+_112 rs13031859 0.28 0.28 0.24 0.269968 0.4642 0.0823 0.4986 0.0666 0.3763 0.45 0.1 0.48 0.09 0.435 0.48 0.07 T 0.002 B 0.006 B 0.000 N 0.000 P 0.57 N -0.63 T -0.934 T 0.000 T 0.09 1.434 10.73 1.2 0.253 1.149 8.963 1.433588 1.433588 0.13 0.485 0.139355 NA 0.275 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Deafness\x2c_autosomal_recessive_9|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000021048.1|RCV000041497.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.;CLNDSDBID=NBK1251:C1832828:601071:ORPHA90636|. 10.9491334 565 14 76156609 76156609 C T exonic TTLL5 NA nonsynonymous SNV TTLL5:NM_015072:exon6:c.C446T:p.A149V exonic ENSG00000119685 NA nonsynonymous SNV ENSG00000119685:ENST00000286650:exon6:c.C446T:p.A149V,ENSG00000119685:ENST00000298832:exon6:c.C446T:p.A149V,ENSG00000119685:ENST00000557636:exon6:c.C446T:p.A149V Score=613;Name=lod=415 NA 14q24.3 NA NA Name=33 NA rs2303345 0.44 0.44 0.376 0.394369 0.661 0.3552 0.5778 0.0242 0.5307 0.67 0.37 0.6 0.04 0.5742 0.67 0.28 T 0.664 P 0.326 B 0.004 N 0.000 P 1.025 L 4.01 T -1.099 T 0.000 T 0.297 2.533 14.43 5.26 2.442 4.849 9.179 2.533249 2.533249 0.31 0.651279 0.136178 NA 0.435 NA 10.9468544 565 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 565 8 95272605 95272605 G C exonic GEM NA nonsynonymous SNV GEM:NM_005261:exon2:c.C127G:p.R43G,GEM:NM_181702:exon2:c.C127G:p.R43G exonic ENSG00000164949 NA nonsynonymous SNV ENSG00000164949:ENST00000297596:exon2:c.C127G:p.R43G,ENSG00000164949:ENST00000396194:exon2:c.C127G:p.R43G,ENSG00000164949:ENST00000523433:exon2:c.C127G:p.R43G NA NA 8q22.1 NA NA Name=7 NA rs2170363 NA NA 0.097 0.112819 0.1183 0.1438 0.0576 0.0923 0.1421 NA NA NA NA 0.1266 0.14 0.5 T 0.0 B 0.0 B 0.442 N 1.000 P 1.39 L 1.51 T -1.024 T 0.002 T 0.408 0.154 4.826 5.28 2.469 7.430 18.930 0.153596 NA 0.46 0.142093 0.105084 NA 0.065 NA 10.9463404 565 7 48349647 48349647 C T exonic ABCA13 NA nonsynonymous SNV ABCA13:NM_152701:exon24:c.C9425T:p.A3142V exonic ENSG00000179869 NA nonsynonymous SNV ENSG00000179869:ENST00000435803:exon24:c.C9425T:p.A3142V NA NA 7p12.3 NA NA NA NA rs3931814 0.11 0.11 0.098 0.109625 0.1163 0.1022 0.1513 0.0408 0.1738 0.11 0.11 0.15 0.06 0.1298 0.15 0.36 T 0.001 B 0.001 B 0.284 N 1.000 P -0.205 N -1.97 D -1.041 T 0.003 T 0.056 1.608 11.33 -5.73 -1.034 -1.021 16.260 1.607817 1.607817 0.42 0.141897 0.051467 NA 0.08 NA 10.9453364 566 3 118866376 118866376 C T exonic C3orf30 NA nonsynonymous SNV C3orf30:NM_152539:exon1:c.C1340T:p.S447L exonic ENSG00000163424,ENSG00000251012 NA nonsynonymous SNV ENSG00000163424:ENST00000295622:exon1:c.C1340T:p.S447L,ENSG00000251012:ENST00000490594:exon1:c.C155T:p.S52L,ENSG00000163424:ENST00000494105:exon1:c.C1340T:p.S447L NA NA 3q13.32 NA NA NA NA rs56317615 0.22 0.22 0.207 0.180312 0.3221 0.2431 0.2435 0.0166 0.1462 0.3 0.25 0.27 0.02 0.2585 0.31 0.01 D 0.99 D 0.808 P 0.158 N 1.000 P 1.735 L 2.58 T -1.041 T 0.000 T 0.377 0.879 8.567 3.62 1.500 0.556 8.404 0.879199 NA 0.01 0.30814 0.066954 NA 0.261 NA 10.9445934 566 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 566 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 566 12 105583877 105583877 G A exonic APPL2 NA nonsynonymous SNV APPL2:NM_001251904:exon15:c.C1316T:p.A439V,APPL2:NM_001251905:exon15:c.C1169T:p.A390V,APPL2:NM_018171:exon15:c.C1298T:p.A433V exonic ENSG00000136044 NA nonsynonymous SNV ENSG00000136044:ENST00000258530:exon15:c.C1298T:p.A433V,ENSG00000136044:ENST00000539978:exon15:c.C1169T:p.A390V,ENSG00000136044:ENST00000551662:exon15:c.C1316T:p.A439V NA NA 12q23.3 Score=853;Name=V$RFX1_02 NA NA NA rs2272495 0.19 0.19 NA 0.1873 0.1869 0.2599 0.2464 0.1044 0.183 0.18 0.26 0.23 0.1 0.2028 0.26 0.24 T 0.043 B 0.054 B 0.065 N 1.000 P 0.69 N 2.71 T -1.005 T 0.000 T 0.206 1.981 12.58 4.51 2.557 1.438 8.502 1.98148 1.98148 0.26 NA NA NA 0.239 NA 10.9436334 566 3 192994543 192994543 A G exonic ATP13A5 NA nonsynonymous SNV ATP13A5:NM_198505:exon29:c.T3392C:p.V1131A exonic ENSG00000187527 NA nonsynonymous SNV ENSG00000187527:ENST00000342358:exon29:c.T3392C:p.V1131A Score=460;Name=lod=99 NA 3q29 Score=771;Name=V$MEF2_01 NA NA NA rs2271791 0.36 0.36 0.332 0.332268 0.4881 0.3621 0.438 0.1067 0.3712 0.5 0.35 0.41 0.14 0.4362 0.5 0.31 T 0.003 B 0.008 B 0.001 N 0.000 P 0.695 N 0.67 T -0.932 T 0.000 T 0.422 2.527 14.41 5.43 2.194 3.102 13.743 2.527006 2.527006 0.16 0.469419 0.173173 NA 0.261 NA 10.9396144 566 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 566 19 10415781 10415781 T C exonic ZGLP1 NA nonsynonymous SNV ZGLP1:NM_001103167:exon4:c.A802G:p.I268V exonic ENSG00000220201 NA nonsynonymous SNV ENSG00000220201:ENST00000403903:exon4:c.A802G:p.I268V,ENSG00000220201:ENST00000403352:exon6:c.A550G:p.I184V NA NA 19p13.2 NA NA NA NA rs2291473 0.09 0.09 0.085 0.111821 0.1332 0.1151 0.0591 0.0038 0.2699 0.14 0.12 0.07 0.01 0.139 0.14 1 T 0.0 B 0.0 B . . 1.000 P 0 N -4.58 D -0.525 T 0.014 T 0.021 -1.048 0.197 -9.24 -2.727 -4.119 5.654 -1.047724 NA 0 0.123337 0.026174 NA 0.058 NA 10.9377964 566 10 69933921 69933921 G A exonic MYPN NA nonsynonymous SNV MYPN:NM_032578:exon11:c.G2072A:p.S691N,MYPN:NM_001256267:exon12:c.G2072A:p.S691N,MYPN:NM_001256268:exon15:c.G1190A:p.S397N exonic ENSG00000138347 NA nonsynonymous SNV ENSG00000138347:ENST00000354393:exon11:c.G1247A:p.S416N,ENSG00000138347:ENST00000358913:exon11:c.G2072A:p.S691N,ENSG00000138347:ENST00000540630:exon11:c.G2072A:p.S691N Score=336;Name=lod=31 NA 10q21.3 NA Name=CTCF Name=4 NA rs10997975 0.36 0.36 0.349 0.335863 0.4851 0.2649 0.4035 0.1762 0.4233 0.49 0.28 0.42 0.2 0.4308 0.49 . . 0.0 B 0.0 B 0.063 N 0.914 P -1.15 N 0.42 T -0.916 T 0.000 T 0.013 -0.656 1.12 3.21 0.088 0.428 8.094 -0.65569 NA 0.62 0.48 0.221516 NA 0.275 CLINSIG=non-pathogenic;CLNDBN=not_provided,not_provided;CLNREVSTAT=single,not;CLNACC=RCV000024490.2,RCV000024523.1;CLNDSDB=.,.;CLNDSDBID=.,. 10.9374334 566 3 47958037 47958037 G T exonic MAP4 NA nonsynonymous SNV MAP4:NM_001134364:exon7:c.C1280A:p.S427Y,MAP4:NM_002375:exon7:c.C1280A:p.S427Y exonic ENSG00000047849 NA nonsynonymous SNV ENSG00000047849:ENST00000360240:exon7:c.C1280A:p.S427Y,ENSG00000047849:ENST00000395734:exon7:c.C1280A:p.S427Y,ENSG00000047849:ENST00000426837:exon8:c.C1331A:p.S444Y NA NA 3p21.31 NA NA NA NA rs1060407 0.23 0.23 0.225 0.251797 0.2992 0.2629 0.3458 0.1165 0.3078 0.29 0.23 0.3 0.09 0.2897 0.31 0 D 0.867 P 0.374 B . . 0.002 P 1.795 L 3.13 T -0.903 T 0.000 T 0.097 2.141 13.11 4.09 2.560 1.868 14.621 2.140525 2.140525 0 0.309302 0.134135 NA 0.232 NA 10.9351314 567 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 567 16 16278863 16278863 G T exonic ABCC6 NA nonsynonymous SNV ABCC6:NM_001171:exon15:c.C1896A:p.H632Q exonic ENSG00000091262 NA nonsynonymous SNV ENSG00000091262:ENST00000205557:exon15:c.C1896A:p.H632Q,ENSG00000091262:ENST00000456970:exon15:c.C1896A:p.H632Q NA NA 16p13.11 NA Name=CEBPB NA NA rs8058694 0.36 0.36 0.369 0.332668 0.4861 0.1627 0.4769 0.3245 0.2587 0.49 0.17 0.45 0.32 0.4152 0.5 0.33 T 0.001 B 0.001 B 0.736 N 1.000 P -0.86 N -2.6 D -1.004 T 0.000 T 0.278 1.09 9.447 -8.99 -1.176 -1.090 4.369 1.089665 NA 0.2 0.501512 0.358216 NA 0.333 NA 10.9305214 567 11 71548492 71548492 C T exonic DEFB108B NA nonsynonymous SNV DEFB108B:NM_001002035:exon2:c.C106T:p.R36W exonic ENSG00000184276 NA nonsynonymous SNV ENSG00000184276:ENST00000328698:exon2:c.C106T:p.R36W Score=265;Name=lod=16 NA 11q13.4 NA NA NA NA rs12793731 0.29 0.29 0.242 0.286741 0.4801 0.1706 0.2896 0.059 0.5133 0.49 0.16 0.35 0.08 0.4182 0.51 0.04 D 0.996 D 0.298 B 0.909 N 1.000 P . . 1.38 T -0.900 T 0.000 T 0.234 0.714 7.802 1.51 1.173 1.585 6.445 0.713786 NA 0 0.506056 0.138182 NA 0.022 NA 10.9289774 567 17 45360730 45360730 T C exonic ITGB3 NA nonsynonymous SNV ITGB3:NM_000212:exon3:c.T176C:p.L59P exonic ENSG00000259207,ENSG00000259753 NA nonsynonymous SNV ENSG00000259207:ENST00000435993:exon3:c.T35C:p.L12P,ENSG00000259207:ENST00000559488:exon3:c.T176C:p.L59P,ENSG00000259207:ENST00000571680:exon3:c.T176C:p.L59P NA NA 17q21.32 NA NA NA NA rs5918 0.09 0.09 0.094 0.0888578 0.1322 0.0089 0.1023 0.0915 0.1135 0.13 0.01 0.1 0.12 0.1235 0.15 0.43 T 0.003 B 0.005 B 0.880 N 1.000 P 1.355 L -3.04 D -0.903 T 0.007 T 0.087 0.492 6.67 -11.8 -3.995 -1.382 9.907 0.492238 NA 0.24 0.151744 0.106673 NA 0.065 CLINSIG=non-pathogenic|pathogenic|pathogenic|other|other;CLNDBN=PL(A1)/(A2)_ALLOANTIGEN_POLYMORPHISM|Thrombocytopenia\x2c_neonatal_alloimmune|Posttransfusion_purpura|Myocardial_infarction|Fracture\x2c_hip\x2c_susceptibility_to;CLNREVSTAT=single|single|single|single|single;CLNACC=RCV000014519.2|RCV000014520.19|RCV000014521.25|RCV000014522.2|RCV000014524.2;CLNDSDB=.|MedGen|MedGen|MedGen:SNOMED_CT|MedGen;CLNDSDBID=.|C0473780|C0398648|C0027051:22298006|C2674640 10.9258894 567 6 2749381 2749381 C T exonic MYLK4 NA nonsynonymous SNV MYLK4:NM_001012418:exon2:c.G148A:p.G50R exonic ENSG00000145949 NA nonsynonymous SNV ENSG00000145949:ENST00000268446:exon2:c.G148A:p.G50R,ENSG00000145949:ENST00000274643:exon2:c.G148A:p.G50R Score=371;Name=lod=43 NA 6p25.2 NA NA NA NA rs2296356 0.17 0.17 0.169 0.156949 0.1153 0.3194 0.2651 0.0325 0.1237 0.12 0.32 0.22 0.04 0.1558 0.32 0.18 T 0.017 B 0.008 B . . 0.941 P 0 N 0.11 T -1.069 T 0.075 T 0.486 1.269 10.14 4.79 1.398 2.859 13.894 1.269128 1.269128 0.02 0.136744 0.06128 NA 0.109 NA 10.9254894 567 1 247614407 247614407 G A exonic OR2B11 NA nonsynonymous SNV OR2B11:NM_001004492:exon1:c.C878T:p.T293I exonic ENSG00000177535 NA nonsynonymous SNV ENSG00000177535:ENST00000318749:exon1:c.C878T:p.T293I Score=468;Name=lod=106 NA 1q44 NA NA NA NA rs12065526 0.12 0.12 0.119 0.111821 0.1342 0.001 0.1758 0.1967 0.0429 0.13 0.0017 0.18 0.22 0.1286 0.22 1 T 0.0 B 0.0 B 0.000 N 0.996 P -4.12 N 2.05 T -0.985 T 0.000 T 0.088 -1.101 0.142 5.09 1.076 5.090 9.414 -1.100774 NA 1 0.145233 0.199728 NA 0.094 NA 10.9253004 567 17 29161202 29161202 A T exonic ATAD5 NA nonsynonymous SNV ATAD5:NM_024857:exon2:c.A103T:p.T35S exonic ENSG00000176208 NA nonsynonymous SNV ENSG00000176208:ENST00000321990:exon2:c.A103T:p.T35S,ENSG00000176208:ENST00000578295:exon2:c.A103T:p.T35S Score=376;Name=lod=45 NA 17q11.2 NA Name=MafK_(ab50322) NA NA rs9910051 0.24 0.24 0.249 0.287939 0.1163 0.1359 0.2305 0.5681 0.2832 0.1 0.16 0.22 0.55 0.1802 0.55 1 T 0.0 B 0.0 B 0.144 N 1.000 P -2.095 N 3.38 T -0.958 T 0.000 T 0.127 1.612 11.35 5.47 0.911 1.019 6.521 1.612102 1.612102 1 0.111654 0.476591 NA 0.304 NA 10.9251794 568 6 32303692 32303692 T A intronic C6orf10 NA NA NA exonic ENSG00000204296 NA nonsynonymous SNV ENSG00000204296:ENST00000375007:exon13:c.A442T:p.I148F,ENSG00000204296:ENST00000442822:exon13:c.A379T:p.I127F,ENSG00000204296:ENST00000447241:exon13:c.A448T:p.I150F,ENSG00000204296:ENST00000527965:exon13:c.A379T:p.I127F,ENSG00000204296:ENST00000375015:exon14:c.A400T:p.I134F,ENSG00000204296:ENST00000533191:exon14:c.A400T:p.I134F Score=397;Name=lod=55 NA 6p21.32 Score=922;Name=V$GATA_C NA NA NA rs1265754 0.03 0.03 0.037 0.019369 0.0785 NA 0.0187 0.0038 NA 0.08 NA 0.03 0.01 0.0603 0.1 0.14 T . . . . . . 0.944 N 1.24 L 3.46 T -0.946 T 0.009 T 0.49 1.479 10.89 2.96 1.614 0.964 7.748 1.478519 1.478519 0.19 0.10299 0.022171 NA 0.072 NA 10.9248767 568 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$OCT1_06 NA NA NA rs2062988 0.72 0.72 0.727 0.724042 0.8191 0.7054 0.6873 0.5545 0.9008 0.82 0.71 0.73 0.59 0.7788 0.82 0.22 T 0.0 B 0.001 B 0.000 N 0.608 P -1.3 N -2.85 D -1.044 T 0.000 T 0.353 0.86 8.483 5.48 1.336 7.152 14.857 0.860296 NA 1 0.814186 0.601226 NA 0.725 NA 10.9212474 568 10 73550117 73550117 C G exonic CDH23 NA nonsynonymous SNV CDH23:NM_022124:exon44:c.C5996G:p.T1999S exonic ENSG00000107736 NA nonsynonymous SNV ENSG00000107736:ENST00000224721:exon45:c.C6011G:p.T2004S Score=436;Name=lod=79 NA 10q22.1 NA NA NA NA rs11592462 0.33 0.33 0.337 0.345248 0.499 0.1597 0.317 0.2625 0.5102 0.5 0.17 0.37 0.23 0.4291 0.5 0.75 T 0.0 B 0.002 B 0.002 N 0.000 P -0.03 N . . -0.967 T 0.000 T 0.039 1.664 11.52 4.14 1.096 1.661 15.619 1.663782 1.663782 0.43 0.486098 0.270206 NA 0.261 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000039232.2;CLNDSDB=.;CLNDSDBID=. 10.9191354 568 20 55088404 55088404 A G exonic RTFDC1 NA nonsynonymous SNV RTFDC1:NM_016407:exon6:c.A511G:p.M171V exonic ENSG00000022277 NA nonsynonymous SNV ENSG00000022277:ENST00000023939:exon6:c.A511G:p.M171V,ENSG00000022277:ENST00000395881:exon6:c.A511G:p.M171V,ENSG00000022277:ENST00000357348:exon7:c.A601G:p.M201V,ENSG00000022277:ENST00000449062:exon7:c.A601G:p.M201V Score=517;Name=lod=169 NA 20q13.31 Score=784;Name=V$COMP1_01 Name=JunD Name=6 NA rs1059768 0.87 0.87 0.855 0.865216 0.8002 0.9911 0.8631 0.8699 0.7975 0.79 0.99 0.83 0.87 0.831 0.99 0.87 T 0.0 B 0.0 B 0.000 N 0.000 P -1.935 N 1.7 T -0.978 T 0.000 T 0.163 -0.296 2.589 4.67 0.740 1.467 7.623 -0.295598 NA 1 0.784186 0.858602 NA 0.819 NA 10.9179474 569 12 51737607 51737607 G A exonic CELA1 NA nonsynonymous SNV CELA1:NM_001971:exon3:c.C130T:p.R44W exonic ENSG00000139610 NA nonsynonymous SNV ENSG00000139610:ENST00000293636:exon3:c.C130T:p.R44W Score=506;Name=lod=152 NA 12q13.13 NA NA NA NA rs17860299 0.25 0.25 0.216 0.234625 0.1173 0.4038 0.3199 0.2133 0.1493 0.12 0.37 0.3 0.24 0.1982 0.37 1 T 0.0 B 0.0 B 0.009 N 1.000 P 0.44 N -2.49 D -1.083 T 0.000 T 0.131 0.669 7.581 4.89 0.825 6.842 10.138 0.668676 NA 1 0.107558 0.188606 ID=COSM147514;OCCURENCE=1(stomach) 0.13 NA 10.9102754 569 22 26159289 26159289 G A exonic MYO18B NA nonsynonymous SNV MYO18B:NM_032608:exon3:c.G131A:p.G44E exonic ENSG00000133454 NA nonsynonymous SNV ENSG00000133454:ENST00000539302:exon2:c.G131A:p.G44E,ENSG00000133454:ENST00000335473:exon3:c.G131A:p.G44E,ENSG00000133454:ENST00000407587:exon3:c.G131A:p.G44E,ENSG00000133454:ENST00000536101:exon3:c.G131A:p.G44E Score=393;Name=lod=53 Name=Mathematical ability in children with dyslexia 22q12.1 NA Name=c-Fos NA NA rs133885 0.68 0.68 0.706 0.701677 0.4374 0.8185 0.6585 0.9221 0.5859 0.44 0.84 0.65 0.89 0.5433 0.89 1 T 0.0 B 0.0 B 0.001 N 0.998 P -2.125 N -1.38 T -0.942 T 0.000 T 0.16 0.118 4.637 5.09 0.892 3.620 8.850 0.11845 NA 1 0.444242 0.845326 NA 0.688 NA 10.9083914 569 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 569 13 109777503 109777503 A G exonic MYO16 NA nonsynonymous SNV MYO16:NM_001198950:exon30:c.A3579G:p.I1193M,MYO16:NM_015011:exon30:c.A3513G:p.I1171M exonic ENSG00000041515 NA nonsynonymous SNV ENSG00000041515:ENST00000457511:exon18:c.A2049G:p.I683M,ENSG00000041515:ENST00000357550:exon29:c.A3513G:p.I1171M,ENSG00000041515:ENST00000356711:exon30:c.A3513G:p.I1171M Score=397;Name=lod=55 NA 13q33.3 NA NA NA NA rs157024 0.13 0.13 0.117 0.132788 0.1441 0.1141 0.1902 0.093 0.1534 0.14 0.13 0.16 0.09 0.1438 0.16 . . 0.0 B 0.0 B 0.037 N 0.000 P -0.55 N -3.73 D -0.896 T 0.005 T 0.056 -0.066 3.681 3.68 0.247 2.054 9.773 -0.065551 NA 1 0.138256 0.107581 NA 0.101 NA 10.9071774 569 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 570 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 570 18 9255982 9255982 A G exonic ANKRD12 NA nonsynonymous SNV ANKRD12:NM_001083625:exon8:c.A2648G:p.K883R,ANKRD12:NM_001204056:exon8:c.A2648G:p.K883R,ANKRD12:NM_015208:exon9:c.A2717G:p.K906R exonic ENSG00000101745 NA nonsynonymous SNV ENSG00000101745:ENST00000383440:exon8:c.A2648G:p.K883R,ENSG00000101745:ENST00000400020:exon8:c.A2648G:p.K883R,ENSG00000101745:ENST00000262126:exon9:c.A2717G:p.K906R Score=385;Name=lod=49 NA 18p11.22 NA NA NA NA rs4798791 0.58 0.58 0.531 0.613419 0.6581 0.6607 0.7104 0.3835 0.7607 0.65 0.63 0.66 0.38 0.6565 0.66 0.08 T 0.859 P 0.391 B 0.000 D 0.000 P 1.04 L 1.22 T -0.999 T 0.000 T 0.118 2.788 15.28 5.55 2.106 5.872 15.691 2.787958 2.787958 NA 0.615304 0.408636 NA 0.565 NA 10.9034294 570 5 1213668 1213668 G A exonic SLC6A19 NA nonsynonymous SNV SLC6A19:NM_001003841:exon5:c.G754A:p.V252I exonic ENSG00000174358 NA nonsynonymous SNV ENSG00000174358:ENST00000304460:exon5:c.G754A:p.V252I,ENSG00000174358:ENST00000515652:exon5:c.G662A:p.R221H Score=460;Name=lod=99 NA 5p15.33 NA NA NA NA rs7732589 0.19 0.19 0.179 0.194489 0.1292 0.1825 0.1383 0.3238 0.1391 0.14 0.18 0.15 0.31 0.1576 0.31 0.5 T 0.001 B 0.002 B 0.007 N 0.997 P -0.29 N -0.82 T -1.050 T 0.000 T 0.058 0.845 8.416 3.03 0.453 2.685 8.319 0.84539 NA 0.49 0.144336 0.29823 NA 0.174 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118391.2;CLNDSDB=.;CLNDSDBID=. 10.9021974 570 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 570 9 133927878 133927878 A G exonic LAMC3 NA nonsynonymous SNV LAMC3:NM_006059:exon10:c.A1631G:p.E544G exonic ENSG00000050555 NA nonsynonymous SNV ENSG00000050555:ENST00000361069:exon10:c.A1631G:p.E544G Score=443;Name=lod=84 NA 9q34.12 NA NA NA NA rs10901333 0.44 0.44 0.465 0.471246 0.497 0.4325 0.3314 0.5499 0.4775 0.47 0.4 0.34 0.52 0.4592 0.59 . . 0.022 B 0.071 B 0.000 D 0.152 P 1.78 L 1.13 T -0.926 T 0.000 T 0.184 1.691 11.61 4.25 0.859 1.458 6.624 1.691384 1.691384 0.16 0.478605 0.527009 NA 0.587 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117459.2;CLNDSDB=.;CLNDSDBID=. 10.8985284 570 16 69304048 69304048 A G exonic SNTB2 NA synonymous SNV SNTB2:NM_006750:exon4:c.A1008G:p.A336A exonic ENSG00000168807 NA nonsynonymous SNV ENSG00000168807:ENST00000467311:exon3:c.A797G:p.Q266R Score=510;Name=lod=157 NA 16q22.1 NA NA NA NA rs1136042 0.02 0.02 0.015 0.0165735 0.0338 NA 0.0403 0.0015 0.0194 0.04 NA 0.05 0.01 0.0313 0.05 . . . . . . . . 1.000 D . . . . -0.946 T 0.045 T . 2.837 15.45 5.99 2.291 0.004 7.227 2.836705 2.836705 NA 0.036395 0.008872 NA 0.065 NA 10.898505 570 1 24394811 24394811 A G exonic MYOM3 NA nonsynonymous SNV MYOM3:NM_152372:exon26:c.T3197C:p.I1066T exonic ENSG00000142661 NA nonsynonymous SNV ENSG00000142661:ENST00000329601:exon26:c.T3197C:p.I1066T,ENSG00000142661:ENST00000330966:exon26:c.T3200C:p.I1067T,ENSG00000142661:ENST00000374434:exon26:c.T3197C:p.I1066T Score=548;Name=lod=226 NA 1p36.11 NA NA NA NA rs12145360 0.16 0.16 0.147 0.196086 0.1372 0.1964 0.1427 0.2262 0.2536 0.13 0.19 0.14 0.18 0.1636 0.19 0.45 T 0.016 B 0.02 B 0.003 N 0.000 P 0.945 L 3.65 T -0.912 T 0.000 T 0.098 1.975 12.56 4.69 1.887 4.548 9.561 1.975219 1.975219 0.18 0.13431 0.178482 NA 0.21 NA 10.8982234 570 17 38855772 38855772 T C exonic KRT24 NA nonsynonymous SNV KRT24:NM_019016:exon6:c.A1285G:p.K429E exonic ENSG00000167916 NA nonsynonymous SNV ENSG00000167916:ENST00000264651:exon6:c.A1285G:p.K429E Score=596;Name=lod=351 NA 17q21.2 NA Name=p300,CTCF,GATA3_(SC-268) Name=4 NA rs2462961 0.55 0.55 0.484 0.580671 0.4692 0.5823 0.6787 0.6036 0.593 0.48 0.56 0.65 0.57 0.5219 0.65 0.84 T 0.0 B 0.0 B . . 1.000 P -0.91 N -2.23 D -0.950 T 0.000 T 0.03 -1.547 0.015 4.63 0.725 0.034 10.802 -1.546799 NA 0.32 0.444302 0.570132 NA 0.355 NA 10.8979314 570 3 184766301 184766301 T C exonic VPS8 NA nonsynonymous SNV VPS8:NM_001009921:exon46:c.T4091C:p.I1364T,VPS8:NM_015303:exon46:c.T4085C:p.I1362T exonic ENSG00000156931 NA nonsynonymous SNV ENSG00000156931:ENST00000446204:exon44:c.T3815C:p.I1272T,ENSG00000156931:ENST00000287546:exon46:c.T4091C:p.I1364T,ENSG00000156931:ENST00000436792:exon46:c.T4085C:p.I1362T,ENSG00000156931:ENST00000437079:exon47:c.T4091C:p.I1364T Score=449;Name=lod=89 NA 3q27.2 NA NA NA NA rs3821750 0.17 0.17 0.172 0.186502 0.1421 0.0536 0.1398 0.4062 0.1053 0.15 0.04 0.15 0.36 0.1443 0.36 0.73 T 0.014 B 0.025 B 0.089 N 0.000 P 0 N 2.29 T -0.925 T 0.000 T 0.109 2.267 13.54 4.89 1.079 1.538 8.061 2.266996 2.266996 0.06 0.151335 0.362272 NA 0.152 NA 10.8955984 570 3 14193889 14193889 C T exonic XPC NA synonymous SNV XPC:NM_001145769:exon11:c.G1950A:p.R650R,XPC:NM_004628:exon11:c.G2061A:p.R687R exonic ENSG00000154767 NA synonymous SNV ENSG00000154767:ENST00000285021:exon11:c.G2061A:p.R687R,ENSG00000154767:ENST00000449060:exon11:c.G1950A:p.R650R Score=519;Name=lod=172 NA 3p25.1 Score=912;Name=V$MAX_01 NA NA NA rs2227998 0.22 0.22 0.203 0.235423 0.2396 0.0327 0.2637 0.3343 0.2863 0.24 0.03 0.27 0.36 0.2734 0.36 . . . . . . . . 0.000 P . . . . -1.004 T 0.000 T . -0.093 3.544 5.05 2.342 2.326 13.399 -0.093045 NA NA 0.258424 0.280888 NA 0.188 NA 10.8952426 571 17 38028634 38028634 G T exonic ZPBP2 NA nonsynonymous SNV ZPBP2:NM_198844:exon4:c.G452T:p.S151I,ZPBP2:NM_199321:exon5:c.G518T:p.S173I exonic ENSG00000186075 NA nonsynonymous SNV ENSG00000186075:ENST00000583811:exon2:c.G164T:p.S55I,ENSG00000186075:ENST00000377940:exon4:c.G452T:p.S151I,ENSG00000186075:ENST00000348931:exon5:c.G518T:p.S173I Score=513;Name=lod=162 NA 17q12 Score=797;Name=V$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 571 9 117797597 117797597 T C exonic TNC NA synonymous SNV TNC:NM_002160:exon22:c.A5673G:p.R1891R exonic ENSG00000041982 NA synonymous SNV ENSG00000041982:ENST00000537320:exon14:c.A3762G:p.R1254R,ENSG00000041982:ENST00000345230:exon15:c.A3762G:p.R1254R,ENSG00000041982:ENST00000346706:exon16:c.A4035G:p.R1345R,ENSG00000041982:ENST00000535648:exon17:c.A4308G:p.R1436R,ENSG00000041982:ENST00000542877:exon17:c.A4584G:p.R1528R,ENSG00000041982:ENST00000340094:exon18:c.A4581G:p.R1527R,ENSG00000041982:ENST00000341037:exon19:c.A5127G:p.R1709R,ENSG00000041982:ENST00000423613:exon19:c.A4854G:p.R1618R,ENSG00000041982:ENST00000350763:exon22:c.A5673G:p.R1891R Score=448;Name=lod=88 NA 9q33.1 NA NA NA NA rs12347433 0.18 0.18 0.171 0.154353 0.2793 0.129 0.1484 0.0666 0.1748 0.28 0.15 0.13 0.08 0.227 0.28 0.1 T . . . . 0.000 D 0.000 P . . 0.4 T -1.023 T 0.000 T . 1.366 10.49 5.97 2.274 3.042 10.465 1.365894 1.365894 NA 0.268953 0.091693 ID=COSM150686;OCCURENCE=1(stomach) 0.145 NA 10.8914136 571 11 26586801 26586801 G A exonic MUC15 NA nonsynonymous SNV MUC15:NM_145650:exon2:c.C605T:p.T202I,MUC15:NM_001135091:exon3:c.C686T:p.T229I,MUC15:NM_001135092:exon3:c.C686T:p.T229I exonic ENSG00000169550 NA nonsynonymous SNV ENSG00000169550:ENST00000281268:exon2:c.C686T:p.T229I,ENSG00000169550:ENST00000436318:exon2:c.C686T:p.T229I,ENSG00000169550:ENST00000455601:exon2:c.C605T:p.T202I,ENSG00000169550:ENST00000527569:exon3:c.C686T:p.T229I,ENSG00000169550:ENST00000529533:exon3:c.C686T:p.T229I NA NA 11p14.2 Score=895;Name=V$GATA1_02 NA NA NA rs15783 0.57 0.57 0.521 0.5623 0.6581 0.4425 0.7421 0.4887 0.5593 0.65 0.42 0.7 0.51 0.639 0.7 0.03 D 0.844 P 0.432 B 0.021 N 1.000 P 1.445 L 1.56 T -1.009 T 0.000 T 0.252 2.32 13.71 2.12 1.060 1.067 4.199 2.319766 2.319766 0.07 0.648023 0.514753 ID=COSM1353293;OCCURENCE=1(large_intestine) 0.565 NA 10.8882104 572 9 109687403 109687403 A G exonic ZNF462 NA nonsynonymous SNV ZNF462:NM_021224:exon3:c.A1210G:p.M404V exonic ENSG00000148143 NA nonsynonymous SNV ENSG00000148143:ENST00000277225:exon3:c.A1210G:p.M404V,ENSG00000148143:ENST00000457913:exon3:c.A1210G:p.M404V Score=646;Name=lod=564 NA 9q31.2 Score=880;Name=V$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 572 14 64882380 64882380 A G exonic MTHFD1 NA nonsynonymous SNV MTHFD1:NM_005956:exon6:c.A401G:p.K134R exonic ENSG00000100714 NA nonsynonymous SNV ENSG00000100714:ENST00000555252:exon5:c.A341G:p.K114R,ENSG00000100714:ENST00000216605:exon6:c.A569G:p.K190R,ENSG00000100714:ENST00000545908:exon6:c.A569G:p.K190R,ENSG00000100714:ENST00000555709:exon6:c.A401G:p.K134R Score=539;Name=lod=207 NA 14q23.3 Score=908;Name=V$STAT_01 NA NA NA rs1950902 0.81 0.81 0.805 0.823482 0.7962 0.6448 0.9107 0.8616 0.9223 0.8 0.73 0.9 0.85 0.8331 0.9 0.76 T 0.009 B 0.017 B 0.000 D 0.000 P . . 0.48 T -1.004 T 0.000 T 0.39 1.841 12.12 5.06 2.032 8.820 15.128 1.841279 1.841279 0.74 0.82407 0.846119 ID=COSM1180585;OCCURENCE=1(upper_aerodigestive_tract) 0.812 NA 10.8799634 572 17 44248848 44248848 G A exonic KANSL1 NA nonsynonymous SNV KANSL1:NM_001193466:exon2:c.C662T:p.T221I,KANSL1:NM_015443:exon2:c.C662T:p.T221I,KANSL1:NM_001193465:exon3:c.C662T:p.T221I exonic ENSG00000120071 NA nonsynonymous SNV ENSG00000120071:ENST00000432791:exon1:c.C662T:p.T221I,ENSG00000120071:ENST00000575318:exon1:c.C662T:p.T221I,ENSG00000120071:ENST00000262419:exon2:c.C662T:p.T221I,ENSG00000120071:ENST00000572904:exon2:c.C662T:p.T221I,ENSG00000120071:ENST00000574590:exon2:c.C662T:p.T221I Score=699;Name=lod=924 NA 17q21.31 NA NA NA NA rs17662853 0.08 0.08 0.059 0.0605032 0.1779 0.002 0.0548 0.003 0.0818 0.19 NA 0.07 0.002 0.123 0.19 0.15 T 0.944 P 0.451 P 0.004 N 0.000 P 0.55 N 2.66 T -0.945 T 0.000 T 0.246 1.472 10.87 3.32 0.898 3.991 10.595 1.472307 1.472307 0.26 0.152791 0.032229 NA 0.08 NA 10.8796424 572 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=CTCF,Pol2 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 572 10 126714966 126714966 A G exonic CTBP2 NA nonsynonymous SNV CTBP2:NM_022802:exon1:c.T1363C:p.Y455H exonic ENSG00000175029 NA nonsynonymous SNV ENSG00000175029:ENST00000309035:exon1:c.T1363C:p.Y455H NA NA 10q26.13 NA NA NA NA rs3012075 0.46 0.46 0.455 0.447883 0.4811 0.6597 0.3343 0.298 0.4785 0.48 0.62 0.34 0.33 0.4791 0.62 0.03 D 0.001 B 0.003 B 0.077 N 0.000 P . . -1.7 D -0.944 T 0.000 T 0.13 2.508 14.35 4.04 1.829 4.895 12.024 2.507941 2.507941 0.05 0.497209 0.329169 NA 0.362 NA 10.8759244 572 22 18912677 18912677 C T exonic PRODH NA stopgain PRODH:NM_001195226:exon4:c.G230A:p.W77X,PRODH:NM_016335:exon5:c.G554A:p.W185X exonic ENSG00000100033 NA stopgain ENSG00000100033:ENST00000334029:exon4:c.G230A:p.W77X,ENSG00000100033:ENST00000357068:exon4:c.G554A:p.W185X,ENSG00000100033:ENST00000420436:exon4:c.G230A:p.W77X,ENSG00000100033:ENST00000450579:exon4:c.G77A:p.W26X NA NA 22q11.21 NA NA NA NA rs11913840 0.05 0.05 0.061 0.0563099 0.0477 0.0298 0.0476 0.121 0.0112 0.03 0.02 0.04 0.1 0.04 0.1 0.02 D . . . . 0.094 N 0.000 P . . . . . . . . . 1.645 11.46 -6.11 -1.080 -0.210 6.835 1.645458 1.645458 0.06 0.036395 0.100999 NA NA NA 10.875905 572 22 46787697 46787697 A G exonic CELSR1 NA nonsynonymous SNV CELSR1:NM_014246:exon15:c.T5981C:p.L1994P exonic ENSG00000075275 NA nonsynonymous SNV ENSG00000075275:ENST00000262738:exon15:c.T5981C:p.L1994P Score=461;Name=lod=100 NA 22q13.31 Score=728;Name=V$PAX4_04 NA NA NA rs6008795 0.18 0.18 0.178 0.198882 0.159 0.001 0.1153 0.475 0.1299 0.16 0.0017 0.12 0.46 0.1608 0.46 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.76 N -0.48 T -0.946 T 0.000 T 0.06 -1.661 0.012 3.5 0.379 6.135 10.520 -1.661256 NA 1 0.137791 0.39396 NA 0.167 NA 10.8757424 572 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 573 3 142178144 142178144 C T exonic ATR NA nonsynonymous SNV ATR:NM_001184:exon43:c.G7274A:p.R2425Q exonic ENSG00000175054 NA nonsynonymous SNV ENSG00000175054:ENST00000383101:exon42:c.G7082A:p.R2361Q,ENSG00000175054:ENST00000350721:exon43:c.G7274A:p.R2425Q Score=610;Name=lod=400 NA 3q23 NA NA Name=4 NA rs2229032 0.12 0.12 0.1 0.102236 0.172 0.1012 0.1037 0.0658 0.0798 0.17 0.11 0.11 0.05 0.1328 0.17 0.52 T 0.0 B 0.001 B 0.249 N 0.998 P 0.39 N -1.0 T -1.105 T 0.001 T 0.183 1.603 11.32 -9.12 -2.531 0.044 19.102 1.602569 1.602569 0.58 0.157791 0.088062 ID=COSM149485;OCCURENCE=1(stomach) 0.123 NA 10.8707424 573 1 236718620 236718620 T C exonic HEATR1 NA nonsynonymous SNV HEATR1:NM_018072:exon41:c.A5899G:p.N1967D exonic ENSG00000119285 NA nonsynonymous SNV ENSG00000119285:ENST00000366581:exon40:c.A5656G:p.N1886D,ENSG00000119285:ENST00000366582:exon41:c.A5899G:p.N1967D Score=605;Name=lod=382 NA 1q43 NA NA NA NA rs1126627 0.55 0.55 0.522 0.484824 0.6759 0.4782 0.5086 0.3858 0.4121 0.68 0.49 0.54 0.41 0.6058 0.68 0.21 T 0.465 P 0.115 B 0.000 D 0.000 P 0.55 N 0.99 T -1.018 T 0.000 T 0.043 0.611 7.291 5.3 2.225 2.398 15.408 0.611013 NA 0.43 0.682674 0.443032 NA 0.609 NA 10.8689594 573 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 573 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=GATA-1,eGFP-GATA2 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 574 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 574 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 574 3 46784467 46784467 G A exonic PRSS45 NA nonsynonymous SNV PRSS45:NM_199183:exon3:c.C389T:p.P130L exonic ENSG00000188086 NA nonsynonymous SNV ENSG00000188086:ENST00000442359:exon3:c.C389T:p.P130L NA NA 3p21.31 NA NA NA NA rs58943210 0.21 0.21 0.221 0.262979 0.1441 0.121 0.1844 0.528 0.229 0.15 0.11 0.16 0.47 0.1829 0.47 0.27 T 0.001 B 0.004 B 0.055 N 1.000 P . . -2.51 D -1.042 T 0.000 T 0.083 0.865 8.503 -4.4 -1.107 -1.748 6.078 0.864696 NA 0.24 0.143538 0.416008 NA 0.203 NA 10.8627954 574 17 1940232 1940232 A G exonic DPH1 NA nonsynonymous SNV DPH1:NM_001383:exon6:c.A677G:p.K226R exonic ENSG00000108963 NA nonsynonymous SNV ENSG00000108963:ENST00000570477:exon5:c.A437G:p.K146R,ENSG00000108963:ENST00000263083:exon6:c.A677G:p.K226R Score=385;Name=lod=49 NA 17p13.3 NA NA NA NA rs1131600 0.12 0.12 0.086 0.101438 0.1541 0.0565 0.2968 0.0098 0.0787 0.15 0.08 0.24 0.02 0.1543 0.24 0.39 T 0.0 B 0.005 B 0.063 N 0.909 P 0.605 N 0.95 T -1.012 T 0.000 T 0.144 0.946 8.856 4.63 0.989 1.942 8.338 0.945819 NA 0.15 0.162188 0.034008 ID=COSM436173;OCCURENCE=1(breast) 0.058 NA 10.8627454 574 1 19499560 19499560 T C exonic UBR4 NA nonsynonymous SNV UBR4:NM_020765:exon25:c.A3319G:p.T1107A exonic ENSG00000127481 NA nonsynonymous SNV ENSG00000127481:ENST00000375217:exon25:c.A3319G:p.T1107A,ENSG00000127481:ENST00000375226:exon25:c.A3319G:p.T1107A,ENSG00000127481:ENST00000375254:exon25:c.A3319G:p.T1107A,ENSG00000127481:ENST00000375267:exon25:c.A3319G:p.T1107A Score=571;Name=lod=279 NA 1p36.13 NA NA NA NA rs16862578 0.15 0.15 0.158 0.138578 0.164 0.0109 0.1671 0.2814 0.0307 0.16 0.01 0.19 0.27 0.1445 0.27 0.12 T 0.0 B 0.0 B 0.000 N 0.000 P -0.345 N 0.96 T -1.025 T 0.000 T 0.12 2.748 15.15 4.82 1.075 4.726 6.841 2.747935 2.747935 0.07 0.163605 0.250113 ID=COSM146428;OCCURENCE=1(stomach) 0.203 NA 10.8612284 574 8 41559609 41559609 G A exonic ANK1 NA synonymous SNV ANK1:NM_000037:exon21:c.C2349T:p.T783T,ANK1:NM_001142446:exon21:c.C2448T:p.T816T,ANK1:NM_020475:exon21:c.C2349T:p.T783T,ANK1:NM_020476:exon21:c.C2349T:p.T783T,ANK1:NM_020477:exon21:c.C2349T:p.T783T exonic ENSG00000029534 NA synonymous SNV ENSG00000029534:ENST00000265709:exon21:c.C2448T:p.T816T,ENSG00000029534:ENST00000289734:exon21:c.C2349T:p.T783T,ENSG00000029534:ENST00000347528:exon21:c.C2349T:p.T783T,ENSG00000029534:ENST00000352337:exon21:c.C2349T:p.T783T,ENSG00000029534:ENST00000379758:exon21:c.C2349T:p.T783T,ENSG00000029534:ENST00000396942:exon21:c.C2349T:p.T783T,ENSG00000029534:ENST00000396945:exon21:c.C2349T:p.T783T Score=444;Name=lod=85 NA 8p11.21 Score=784;Name=V$XBP1_01 NA Name=138 NA rs2304880 0.17 0.17 0.144 0.180711 0.2843 0.0794 0.2954 0.0159 0.32 0.29 0.06 0.28 0.02 0.2541 0.29 . . . . . . . . 0.000 P . . . . . . . . . -0.44 1.954 -2.95 -0.110 -1.166 3.017 -0.440462 NA NA 0.267674 0.056741 NA 0.101 NA 10.8605926 574 1 208391254 208391254 C T exonic PLXNA2 NA nonsynonymous SNV PLXNA2:NM_025179:exon2:c.G14A:p.R5Q exonic ENSG00000076356 NA nonsynonymous SNV ENSG00000076356:ENST00000367033:exon2:c.G14A:p.R5Q Score=423;Name=lod=70 NA 1q32.2 NA NA NA NA rs2782948 0.36 0.36 0.366 0.364617 0.3022 0.4018 0.3314 0.3601 0.4202 0.3 0.46 0.35 0.35 0.3521 0.46 0.02 D 0.883 P 0.174 B 0.180 N 0.850 P 0.55 N 5.56 T -0.902 T 0.000 T 0.16 1.97 12.54 5.5 2.588 0.519 13.682 1.969753 1.969753 0 0.323128 0.346244 ID=COSM1127155;OCCURENCE=1(prostate) 0.319 NA 10.8559054 574 6 129571330 129571330 G A exonic LAMA2 NA nonsynonymous SNV LAMA2:NM_000426:exon13:c.G1856A:p.R619H,LAMA2:NM_001079823:exon13:c.G1856A:p.R619H exonic ENSG00000196569 NA nonsynonymous SNV ENSG00000196569:ENST00000421865:exon13:c.G1856A:p.R619H NA NA 6q22.33 NA NA NA NA rs3816665 0.22 0.22 0.261 0.270966 0.1551 0.0843 0.134 0.5961 0.2403 0.16 0.08 0.13 0.55 0.1828 0.55 0.27 T 0.004 B 0.003 B 0.233 N 1.000 P 1.445 L 1.26 T -1.045 T 0.036 T 0.049 -0.582 1.385 -5.14 -1.322 -1.575 16.131 -0.58232 NA 0.3 0.14 0.522923 NA 0.355 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078752.2;CLNDSDB=.;CLNDSDBID=. 10.8554334 574 12 56351346 56351346 G A exonic PMEL NA synonymous SNV PMEL:NM_001200053:exon4:c.C483T:p.P161P,PMEL:NM_001200054:exon6:c.C741T:p.P247P,PMEL:NM_006928:exon7:c.C741T:p.P247P exonic ENSG00000185664 NA synonymous SNV ENSG00000185664:ENST00000550464:exon4:c.C483T:p.P161P,ENSG00000185664:ENST00000539511:exon5:c.C483T:p.P161P,ENSG00000185664:ENST00000546543:exon5:c.C594T:p.P198P,ENSG00000185664:ENST00000547137:exon5:c.C579T:p.P193P,ENSG00000185664:ENST00000449260:exon6:c.C741T:p.P247P,ENSG00000185664:ENST00000548747:exon6:c.C741T:p.P247P,ENSG00000185664:ENST00000360714:exon7:c.C741T:p.P247P,ENSG00000185664:ENST00000536427:exon7:c.C741T:p.P247P,ENSG00000185664:ENST00000548493:exon7:c.C741T:p.P247P,ENSG00000185664:ENST00000552882:exon7:c.C741T:p.P247P Score=605;Name=lod=383 NA 12q13.2 Score=775;Name=V$PPARG_03 NA NA NA rs1052165 0.19 0.19 0.184 0.213059 0.2734 0.2391 0.1686 0.0204 0.4162 0.27 0.22 0.17 0.04 0.2585 0.28 . . . . . . . . 0.000 P . . . . . . . . . 1.207 9.9 3.75 1.509 3.096 12.189 1.206517 NA NA 0.279651 0.060599 NA 0.254 NA 10.8551156 575 8 125463250 125463250 T C exonic TRMT12 NA nonsynonymous SNV TRMT12:NM_017956:exon1:c.T82C:p.W28R exonic ENSG00000183665 NA nonsynonymous SNV ENSG00000183665:ENST00000328599:exon1:c.T82C:p.W28R,ENSG00000183665:ENST00000522518:exon1:c.T82C:p.W28R Score=383;Name=lod=48 NA 8q24.13 NA Name=AP-2gamma,ELK4,Pol2,NFKB,Pol2-4H8 Name=3 NA rs3812475 0.55 0.55 0.52 0.571086 0.495 0.4415 0.4798 0.7814 0.5634 0.5 0.42 0.52 0.8 0.5124 0.8 1 T 0.0 B 0.0 B 0.024 N 1.000 P -2.045 N 1.13 T -0.963 T 0.000 T 0.054 -0.892 0.456 5.15 1.515 0.518 10.538 -0.891521 NA 1 0.471977 0.694734 NA 0.5 NA 10.8539564 575 1 48695081 48695081 G A exonic SLC5A9 NA nonsynonymous SNV SLC5A9:NM_001011547:exon4:c.G454A:p.V152M,SLC5A9:NM_001135181:exon5:c.G529A:p.V177M exonic ENSG00000117834 NA nonsynonymous SNV ENSG00000117834:ENST00000420136:exon4:c.G433A:p.V145M,ENSG00000117834:ENST00000425816:exon4:c.G454A:p.V152M,ENSG00000117834:ENST00000438567:exon4:c.G454A:p.V152M,ENSG00000117834:ENST00000236495:exon5:c.G529A:p.V177M,ENSG00000117834:ENST00000533824:exon5:c.G517A:p.V173M Score=638;Name=lod=523 NA 1p33 Score=877;Name=V$AREB6_03 NA NA NA rs212989 0.15 0.15 0.171 0.169329 0.161 0.0109 0.1225 0.3109 0.183 0.16 0.01 0.13 0.32 0.1621 0.32 0.21 T 0.095 B 0.111 B 0.000 D 0.174 P 0.68 N -2.49 D -1.090 T 0.000 T 0.35 2.096 12.97 1.73 0.439 0.864 3.579 2.096458 2.096458 0.2 0.156744 0.30345 NA 0.188 NA 10.8534894 575 20 368905 368905 A G exonic TRIB3 NA nonsynonymous SNV TRIB3:NM_021158:exon2:c.A251G:p.Q84R exonic ENSG00000101255 NA nonsynonymous SNV ENSG00000101255:ENST00000217233:exon2:c.A251G:p.Q84R,ENSG00000101255:ENST00000449710:exon2:c.A251G:p.Q84R,ENSG00000101255:ENST00000422053:exon3:c.A332G:p.Q111R Score=399;Name=lod=56 NA 20p13 NA NA NA NA rs2295490 0.15 0.15 0.171 0.199081 0.1441 0.1865 0.0836 0.1641 0.3978 0.14 0.22 0.09 0.15 0.1834 0.22 0.5 T 0.0 B 0.0 B 0.092 N 1.000 P -1.925 N 2.24 T -0.983 T 0.000 T 0.29 0.293 5.585 4.49 1.119 5.142 10.487 0.29277 NA 1 0.155188 0.160236 NA 0.101 NA 10.8506454 575 22 46787694 46787694 A G exonic CELSR1 NA nonsynonymous SNV CELSR1:NM_014246:exon15:c.T5984C:p.L1995P exonic ENSG00000075275 NA nonsynonymous SNV ENSG00000075275:ENST00000262738:exon15:c.T5984C:p.L1995P Score=461;Name=lod=100 NA 22q13.31 Score=728;Name=V$PAX4_04 NA NA NA rs6008794 0.25 0.25 0.269 0.27496 0.159 0.0129 0.1398 0.7413 0.1299 0.16 0.01 0.15 0.73 0.1857 0.73 0.56 T 0.0 B 0.001 B 0.019 N 0.007 P -0.855 N -0.33 T -0.949 T 0.000 T 0.053 -1.617 0.013 3.4 0.924 2.771 7.201 -1.617194 NA 0.65 0.140698 0.64941 NA 0.261 NA 10.8479354 575 17 4722876 4722876 G A exonic PLD2 NA nonsynonymous SNV PLD2:NM_002663:exon23:c.G2461A:p.G821S exonic ENSG00000129219 NA nonsynonymous SNV ENSG00000129219:ENST00000263088:exon23:c.G2461A:p.G821S Score=514;Name=lod=164 NA 17p13.2 Score=773;Name=V$STAT5A_02 NA NA NA rs3764897 0.18 0.18 0.175 0.183307 0.168 0.1071 0.1671 0.3033 0.1268 0.15 0.1 0.15 0.33 0.1598 0.33 0.41 T 0.0 B 0.0 B 0.000 N 0.000 P -2.045 N 3.34 T -0.955 T 0.000 T 0.362 1.669 11.54 3.82 0.645 3.580 7.585 1.668938 1.668938 0.43 0.158488 0.271902 NA 0.217 NA 10.8470454 575 2 30975961 30975961 G T exonic CAPN13 NA nonsynonymous SNV CAPN13:NM_144575:exon10:c.C1045A:p.Q349K exonic ENSG00000162949 NA nonsynonymous SNV ENSG00000162949:ENST00000295055:exon10:c.C1045A:p.Q349K,ENSG00000162949:ENST00000534090:exon10:c.C1045A:p.Q349K,ENSG00000162949:ENST00000458085:exon11:c.C1045A:p.Q349K NA NA 2p23.1 NA NA NA NA rs62142192 0.09 0.09 0.078 0.0565096 0.1779 NA 0.0836 0.0091 0.0348 0.19 NA 0.1 0.02 0.1214 0.19 0.05 D 0.316 B 0.081 B 0.000 N 1.000 P 1.7 L -2.2 D -0.979 T 0.002 T 0.185 -0.935 0.369 3.44 0.573 1.400 7.158 -0.935101 NA 0.31 0.187364 0.03405 NA 0.043 NA 10.8466694 575 4 70460328 70460328 C T exonic UGT2A1,UGT2A2 NA nonsynonymous SNV UGT2A2:NM_001105677:exon5:c.G1198A:p.V400I,UGT2A1:NM_001252274:exon6:c.G1669A:p.V557I,UGT2A1:NM_001252275:exon6:c.G1171A:p.V391I,UGT2A1:NM_006798:exon6:c.G1171A:p.V391I exonic ENSG00000173610,ENSG00000270386,ENSG00000271271 NA nonsynonymous SNV ENSG00000173610:ENST00000512704:exon4:c.G1039A:p.V347I,ENSG00000271271:ENST00000457664:exon5:c.G1198A:p.V400I,ENSG00000173610:ENST00000503640:exon5:c.G1171A:p.V391I,ENSG00000173610:ENST00000286604:exon6:c.G1171A:p.V391I,ENSG00000270386:ENST00000514019:exon6:c.G1669A:p.V557I NA NA 4q13.2 Score=917;Name=V$NFKAPPAB_01 Name=FOXA1_(SC-101058),FOXA1_(C-20),FOXA2_(SC-6554) Name=3 NA rs4148304 0.11 0.11 0.094 0.118411 0.17 0.0288 0.1513 0.1256 0.1247 0.17 0.01 0.14 0.09 0.1424 0.18 1 T 0.021 B 0.016 B 0.188 N . . -1.415 N 0.33 T -1.062 T 0.000 T 0.03 -0.953 0.337 -2.67 -0.819 0.340 7.051 -0.952667 NA 1 0.175116 0.102814 ID=COSM1131073,COSM1131072;OCCURENCE=1(prostate) 0.109 NA 10.8458174 575 16 1306681 1306681 G A exonic TPSD1 NA nonsynonymous SNV TPSD1:NM_012217:exon2:c.G247A:p.V83M exonic ENSG00000095917 NA nonsynonymous SNV ENSG00000095917:ENST00000211076:exon2:c.G247A:p.V83M,ENSG00000095917:ENST00000397534:exon3:c.G226A:p.V76M NA NA 16p13.3 NA NA NA NA rs1141967 0.45 0.45 0.418 0.441693 0.3221 0.7946 0.2983 0.326 0.4591 0.32 0.82 0.27 0.33 0.37 0.82 0.02 D 0.994 D 0.839 P 0.238 N 1.000 P 1.79 L -1.79 D -0.902 T 0.000 T 0.119 1.96 12.51 -2.38 -0.652 -0.832 1.012 1.95977 1.95977 0.01 0.295486 0.320828 NA 0.167 NA 10.8457474 575 1 108307727 108307727 T A exonic VAV3 NA nonsynonymous SNV VAV3:NM_006113:exon9:c.A892T:p.T298S exonic ENSG00000134215 NA nonsynonymous SNV ENSG00000134215:ENST00000370056:exon9:c.A892T:p.T298S,ENSG00000134215:ENST00000371846:exon9:c.A697T:p.T233S,ENSG00000134215:ENST00000527011:exon9:c.A892T:p.T298S Score=575;Name=lod=290 NA 1p13.3 Score=773;Name=V$EVI1_01 NA NA NA rs7528153 0.55 0.55 0.559 0.507788 0.7038 0.3879 0.4251 0.5862 0.3824 0.7 0.37 0.49 0.57 0.5883 0.7 0.69 T 0.566 P 0.338 B 0.000 D 0.000 P 0.925 L -0.26 T -1.046 T 0.081 T 0.097 0.813 8.268 4.5 0.946 1.315 6.565 0.812619 NA 0.51 0.695814 0.612574 NA 0.587 NA 10.8454194 576 20 15967390 15967390 C T exonic MACROD2 NA nonsynonymous SNV MACROD2:NM_001033087:exon10:c.C299T:p.T100M,MACROD2:NM_080676:exon14:c.C1004T:p.T335M exonic ENSG00000172264 NA nonsynonymous SNV ENSG00000172264:ENST00000378058:exon6:c.C299T:p.T100M,ENSG00000172264:ENST00000402914:exon10:c.C299T:p.T100M,ENSG00000172264:ENST00000217246:exon14:c.C1004T:p.T335M,ENSG00000172264:ENST00000310348:exon14:c.C1004T:p.T335M NA NA 20p12.1 NA NA Name=7 NA rs41275442 0.09 0.09 0.08 0.0766773 0.167 0.0238 0.121 0.0076 0.1002 0.17 0.01 0.14 0.01 0.1344 0.19 0.28 T 0.014 B 0.006 B 0.278 N 1.000 P 1.39 L 2.5 T -1.054 T 0.000 T 0.084 -0.006 3.983 -6.69 -1.070 -3.589 6.841 -0.005976 NA 0.02 0.187093 0.042896 NA 0.101 NA 10.8448404 576 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 576 17 76130575 76130575 A T exonic TMC8 NA nonsynonymous SNV TMC8:NM_152468:exon8:c.A917T:p.N306I exonic ENSG00000167895 NA nonsynonymous SNV ENSG00000167895:ENST00000589691:exon7:c.A248T:p.N83I,ENSG00000167895:ENST00000318430:exon8:c.A917T:p.N306I Score=272;Name=lod=17 NA 17q25.3 NA Name=Rad21,YY1_(C-20),FOXA2_(SC-6554),PAX5-C20,NANOG_(SC-33759),ZBTB7A_(SC-34508),TBP,CTCFL_(SC-98982),SMC3_(ab9263),FOXA1_(SC-101058),FOXA1_(C-20),E2F6_(H-50),CTCF,CTCF_(SC-5916),CTCF_(C-20),Znf143_(16618-1-AP),ELF1_(SC-631) Name=93 NA rs7208422 0.54 0.54 0.571 0.552316 0.4901 0.4236 0.5879 0.7126 0.5072 0.49 0.46 0.58 0.69 0.5148 0.69 0.56 T 0.0 B 0.0 B 0.000 N 1.000 P -2.075 N 0.26 T -0.941 T 0.000 T 0.093 -1.051 0.194 4.71 0.657 1.351 9.032 -1.051025 NA 0.93 0.489419 0.685656 NA 0.594 NA 10.8390144 576 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 576 7 23775454 23775454 G A exonic STK31 NA nonsynonymous SNV STK31:NM_001260504:exon7:c.G712A:p.E238K,STK31:NM_001260505:exon7:c.G781A:p.E261K,STK31:NM_031414:exon7:c.G781A:p.E261K,STK31:NM_032944:exon7:c.G712A:p.E238K exonic ENSG00000196335 NA nonsynonymous SNV ENSG00000196335:ENST00000354639:exon7:c.G712A:p.E238K,ENSG00000196335:ENST00000355870:exon7:c.G781A:p.E261K,ENSG00000196335:ENST00000428484:exon7:c.G712A:p.E238K,ENSG00000196335:ENST00000433467:exon7:c.G781A:p.E261K Score=251;Name=lod=14 NA 7p15.3 NA NA NA NA rs10264952 0.11 0.11 0.09 0.0844649 0.173 0.0308 0.1196 0.0582 0.0593 0.17 0.03 0.15 0.07 0.1354 0.19 0.2 T 0.057 B 0.031 B 0.032 N 0.956 P 0 N 1.98 T -1.019 T 0.000 T 0.112 1.182 9.806 5.16 2.557 4.713 10.031 1.181881 NA 0.23 0.188605 0.080118 NA 0.072 NA 10.8363284 576 2 218713282 218713282 G A exonic TNS1 NA nonsynonymous SNV TNS1:NM_022648:exon17:c.C1583T:p.T528I exonic ENSG00000079308 NA nonsynonymous SNV ENSG00000079308:ENST00000419504:exon16:c.C1583T:p.T528I,ENSG00000079308:ENST00000430930:exon16:c.C1583T:p.T528I,ENSG00000079308:ENST00000171887:exon17:c.C1583T:p.T528I,ENSG00000079308:ENST00000446903:exon19:c.C1958T:p.T653I Score=484;Name=lod=124 NA 2q35 NA NA NA NA rs3796033 0.38 0.38 0.402 0.413339 0.3459 0.2937 0.3055 0.5983 0.4325 0.33 0.31 0.3 0.62 0.3454 0.62 0.27 T 0.722 P 0.164 B 0.037 N 0.000 P 1.245 L -2.86 D -0.906 T 0.000 T 0.463 1.934 12.43 2.37 0.447 2.711 7.240 1.934427 1.934427 0.05 0.30593 0.539719 NA 0.536 NA 10.8361034 576 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 576 18 3126811 3126811 A G exonic MYOM1 NA nonsynonymous SNV MYOM1:NM_019856:exon18:c.T2591C:p.I864T,MYOM1:NM_003803:exon19:c.T2879C:p.I960T exonic ENSG00000101605 NA nonsynonymous SNV ENSG00000101605:ENST00000261606:exon18:c.T2591C:p.I864T,ENSG00000101605:ENST00000356443:exon19:c.T2879C:p.I960T,ENSG00000101605:ENST00000400569:exon19:c.T2879C:p.I960T Score=641;Name=lod=537 NA 18p11.31 Score=916;Name=V$GATA1_04 Name=STAT3,USF-1 Name=2 NA rs1071600 0.26 0.26 0.278 0.254393 0.1571 0.3204 0.1988 0.3177 0.2403 0.16 0.36 0.18 0.34 0.1997 0.36 0.63 T 0.0 B 0.002 B 0.002 N 1.000 P -1.025 N 0.57 T -0.949 T 0.000 T 0.012 -1.044 0.202 1.43 -0.028 0.450 7.397 -1.044108 NA NA 0.141532 0.260502 ID=COSM148375;OCCURENCE=1(stomach) 0.21 NA 10.8350014 577 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 577 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 577 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 577 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 577 17 33679559 33679559 G A exonic SLFN11 NA nonsynonymous SNV SLFN11:NM_152270:exon5:c.C2522T:p.A841V,SLFN11:NM_001104589:exon6:c.C2522T:p.A841V,SLFN11:NM_001104587:exon7:c.C2522T:p.A841V,SLFN11:NM_001104588:exon7:c.C2522T:p.A841V,SLFN11:NM_001104590:exon7:c.C2522T:p.A841V exonic ENSG00000172716 NA nonsynonymous SNV ENSG00000172716:ENST00000308377:exon5:c.C2522T:p.A841V,ENSG00000172716:ENST00000394566:exon7:c.C2522T:p.A841V NA NA 17q12 NA NA NA NA rs376285868 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 0.0002 0.01 D 0.963 D 0.574 P 0.180 N 1.000 N 1.285 L 4.36 T -0.937 T 0.009 T 0.047 2.736 15.11 1.79 0.372 -1.910 4.547 2.735506 2.735506 0 0.000233 0 NA NA NA 10.8328004 577 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 577 6 41303993 41303993 C T exonic NCR2 NA nonsynonymous SNV NCR2:NM_001199509:exon2:c.C221T:p.T74M,NCR2:NM_001199510:exon2:c.C221T:p.T74M,NCR2:NM_004828:exon2:c.C221T:p.T74M exonic ENSG00000096264 NA nonsynonymous SNV ENSG00000096264:ENST00000373083:exon2:c.C221T:p.T74M,ENSG00000096264:ENST00000373086:exon2:c.C221T:p.T74M,ENSG00000096264:ENST00000373089:exon2:c.C221T:p.T74M NA NA 6p21.1 NA NA NA NA rs61733061 NA NA NA 0.000399361 NA 0.001 NA NA 0.001 NA NA NA NA 0.0005 0.0005 0.09 T 0.991 D 0.683 P . . 1.000 N 0.75 N -0.26 T -1.040 T 0.096 T 0.158 1.885 12.26 -2.13 -0.357 -1.646 1.826 1.88478 1.88478 0.1 0.000465 0.000227 NA NA NA 10.8323684 577 20 9496716 9496716 C G exonic LAMP5 NA nonsynonymous SNV LAMP5:NM_012261:exon3:c.C307G:p.Q103E exonic ENSG00000125869 NA nonsynonymous SNV ENSG00000125869:ENST00000246070:exon3:c.C307G:p.Q103E Score=582;Name=lod=308 NA 20p12.2 NA NA NA NA rs2232264 0.23 0.23 0.275 0.246406 0.1382 0.131 0.2003 0.562 0.0828 0.14 0.15 0.2 0.51 0.1992 0.52 . . 0.0 B 0.0 B 0.000 N 0.000 P -0.895 N 1.51 T -0.934 T 0.000 T 0.066 0.309 5.673 6.01 1.573 6.363 17.541 0.308768 NA 1 0.165581 0.519746 ID=COSM1413351;OCCURENCE=1(large_intestine) 0.225 NA 10.8303524 577 11 6816872 6816872 G T exonic OR6A2 NA nonsynonymous SNV OR6A2:NM_003696:exon1:c.C68A:p.P23Q exonic ENSG00000184933 NA nonsynonymous SNV ENSG00000184933:ENST00000332601:exon1:c.C68A:p.P23Q NA NA 11p15.4 NA NA NA NA rs139474625 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001 0.0021 0.48 T 0.981 D 0.593 P 0.535 N 1.000 N -0.715 N 7.45 T -0.707 T 0.001 T 0.371 1.346 10.42 3.93 1.398 0.288 8.367 1.346235 1.346235 0.57 0.002095 0 NA NA NA 10.8302384 577 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 577 10 135237166 135237166 G A exonic SPRN NA nonsynonymous SNV SPRN:NM_001012508:exon2:c.C20T:p.T7M exonic ENSG00000203772 NA nonsynonymous SNV ENSG00000203772:ENST00000414069:exon2:c.C20T:p.T7M,ENSG00000203772:ENST00000541506:exon2:c.C20T:p.T7M NA NA 10q26.3 Score=814;Name=V$MYCMAX_01 Name=Pol2 Name=3 NA rs2492666 0.52 0.52 0.497 0.484026 0.671 0.628 0.5288 0.1762 0.5276 0.68 0.58 0.53 0.19 0.6539 0.68 0.02 D 0.576 P 0.096 B . . 1.000 P 2.045 M 0.57 T -0.954 T 0.000 T 0.102 2.36 13.85 1.2 0.248 0.844 7.140 2.360163 2.360163 NA 0.68207 0.330716 ID=COSM1316964;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.051 NA 10.8263634 577 19 46268902 46268902 C T exonic SIX5 NA nonsynonymous SNV SIX5:NM_175875:exon3:c.G2077A:p.V693M exonic ENSG00000177045 NA nonsynonymous SNV ENSG00000177045:ENST00000317578:exon3:c.G2077A:p.V693M NA NA 19q13.32 NA NA NA NA rs2341097 0.29 0.29 0.262 0.298123 0.3231 0.2937 0.2305 0.3298 0.2822 0.33 0.24 0.28 0.3 0.3206 0.36 0.04 D 0.63 P 0.169 B 0.663 N 0.997 P 0 N -2.82 D -1.097 T 0.000 T 0.139 1.253 10.08 3.14 2.199 0.682 9.094 1.253473 1.253473 0.08 0.363689 0.304585 ID=COSM439801;OCCURENCE=1(breast) 0.348 NA 10.8259444 577 19 16008388 16008388 A C exonic CYP4F2 NA nonsynonymous SNV CYP4F2:NM_001082:exon2:c.T34G:p.W12G exonic ENSG00000186115 NA nonsynonymous SNV ENSG00000186115:ENST00000586927:exon1:c.T34G:p.W12G,ENSG00000186115:ENST00000221700:exon2:c.T34G:p.W12G,ENSG00000186115:ENST00000592328:exon2:c.T34G:p.W12G NA NA 19p13.12 Score=777;Name=V$MYOGNF1_01 NA NA NA rs3093105 0.16 0.16 0.147 0.157149 0.1759 0.0585 0.1326 0.239 0.1462 0.16 0.07 0.18 0.24 0.1606 0.24 1 T 0.0 B 0.0 B 0.053 N 1.000 P -1.795 N -2.29 D -1.017 T 0.000 T 0.057 -1.719 0.011 -4.3 -1.196 -0.868 3.650 -1.718931 NA 0.98 0.170976 0.234893 NA 0.181 NA 10.8258574 578 10 49447720 49447720 G A exonic FRMPD2 NA nonsynonymous SNV FRMPD2:NM_001018071:exon7:c.C716T:p.T239M exonic ENSG00000170324 NA nonsynonymous SNV ENSG00000170324:ENST00000305531:exon5:c.C644T:p.T215M,ENSG00000170324:ENST00000407470:exon6:c.C623T:p.T208M,ENSG00000170324:ENST00000374201:exon7:c.C716T:p.T239M Score=355;Name=lod=37 NA 10q11.22 NA NA NA NA rs55802136 0.0014 0.0014 0.001 0.00239617 0.005 NA 0.0072 NA 0.002 0.0013 NA 0.01 NA 0.0031 0.01 0.02 D 0.938 P 0.281 B . . 0.963 N 1.995 M -0.12 T -0.940 T 0.136 T 0.071 0.823 8.314 1.98 0.209 0.804 7.217 0.822737 NA 0.01 0.00314 0.000227 NA 0.051 NA 10.8220934 578 5 149219653 149219653 G A exonic PPARGC1B NA nonsynonymous SNV PPARGC1B:NM_001172698:exon8:c.G2551A:p.A851T,PPARGC1B:NM_001172699:exon8:c.G2476A:p.A826T,PPARGC1B:NM_133263:exon9:c.G2668A:p.A890T exonic ENSG00000155846 NA nonsynonymous SNV ENSG00000155846:ENST00000360453:exon8:c.G2551A:p.A851T,ENSG00000155846:ENST00000403750:exon8:c.G2476A:p.A826T,ENSG00000155846:ENST00000309241:exon9:c.G2668A:p.A890T,ENSG00000155846:ENST00000394320:exon9:c.G2668A:p.A890T NA NA 5q32 Score=888;Name=V$OCT1_06 NA Name=34 NA rs150637009 0.0037 0.0037 0.002 0.00279553 0.004 NA 0.0144 NA NA 0.004 NA 0.01 NA 0.0097 0.01 0.58 T 0.981 D 0.581 P 0.165 N 1.000 N 1.355 L 0.98 T -1.029 T 0.067 T 0.297 0.922 8.753 1.76 0.528 0.803 5.332 0.921675 NA 0.15 0.000698 0.000908 NA NA NA 10.8189354 578 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 578 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 578 17 13980350 13980350 G A exonic COX10 NA nonsynonymous SNV COX10:NM_001303:exon3:c.G476A:p.R159Q exonic ENSG00000006695 NA nonsynonymous SNV ENSG00000006695:ENST00000261643:exon3:c.G476A:p.R159Q,ENSG00000006695:ENST00000429152:exon3:c.G476A:p.R159Q,ENSG00000006695:ENST00000536205:exon3:c.G25A:p.D9N,ENSG00000006695:ENST00000581931:exon3:c.G476A:p.R159Q Score=409;Name=lod=61 NA 17p12 NA NA NA NA rs2072279 0.49 0.49 0.485 0.463858 0.506 0.375 0.536 0.4433 0.4888 0.52 0.45 0.51 0.47 0.4945 0.52 0.67 T 0.011 B 0.008 B 0.001 N 0.000 P 2.33 M -0.16 T -0.932 T 0.000 T 0.728 3.227 16.81 5.49 2.741 7.163 17.932 3.226566 3.226566 NA 0.515581 0.441217 NA 0.406 NA 10.8172524 578 20 43378770 43378770 A G exonic KCNK15 NA nonsynonymous SNV KCNK15:NM_022358:exon2:c.A284G:p.E95G exonic ENSG00000124249 NA nonsynonymous SNV ENSG00000124249:ENST00000372861:exon2:c.A284G:p.E95G Score=576;Name=lod=291 NA 20q13.12 NA Name=CTCF NA NA rs1111032 0.6 0.6 0.566 0.606829 0.4811 0.6657 0.5043 0.7958 0.4928 0.49 0.64 0.52 0.79 0.5397 0.79 . . . . . . 0.000 N 0.083 P . . 4.58 T -1.256 T 0.000 T 0.066 0.021 4.125 4.14 0.966 6.507 12.133 0.021464 NA 1 0.496976 0.741035 NA 0.703 NA 10.8155574 579 3 133356790 133356790 G A exonic TOPBP1 NA nonsynonymous SNV TOPBP1:NM_007027:exon14:c.C2450T:p.S817L exonic ENSG00000163781 NA nonsynonymous SNV ENSG00000163781:ENST00000260810:exon14:c.C2450T:p.S817L Score=414;Name=lod=64 NA 3q22.1 NA NA NA NA rs17301766 0.1 0.1 0.103 0.0810703 0.1829 0.001 0.121 0.0681 0.0481 0.18 0.0017 0.14 0.07 0.1411 0.19 0.11 T 0.372 B 0.044 B 0.003 N 0.001 P 1.52 L 2.02 T -1.047 T 0.000 T 0.058 3.247 16.89 5.16 1.559 5.412 15.257 3.246578 3.246578 0.02 0.194923 0.072995 NA 0.08 NA 10.8144104 579 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 579 14 74514674 74514674 A T exonic CCDC176 NA nonsynonymous SNV CCDC176:NM_025057:exon7:c.A689T:p.D230V exonic ENSG00000119636 NA nonsynonymous SNV ENSG00000119636:ENST00000464394:exon6:c.A269T:p.D90V,ENSG00000119636:ENST00000394009:exon7:c.A689T:p.D230V Score=496;Name=lod=138 NA 14q24.3 Score=844;Name=V$FREAC2_01 NA NA NA rs3784038 0.6 0.6 0.598 0.631789 0.4751 0.8829 0.5274 0.5454 0.7249 0.48 0.88 0.5 0.53 0.5655 0.88 0.33 T 0.0 B 0.0 B 0.036 N 0.000 P -2.28 N 1.47 T -0.977 T 0.000 T 0.11 2.83 15.43 5.78 1.018 2.691 12.164 2.830233 2.830233 1 0.479062 0.558036 NA 0.58 NA 10.8136714 579 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 580 1 54606804 54606804 C T exonic CDCP2 NA nonsynonymous SNV CDCP2:NM_201546:exon3:c.G730A:p.G244R exonic ENSG00000157211 NA nonsynonymous SNV ENSG00000157211:ENST00000371330:exon3:c.G730A:p.G244R Score=494;Name=lod=136 NA 1p32.3 NA NA NA NA rs3766465 0.83 0.83 0.819 0.824081 0.8509 0.8681 0.7939 0.7723 0.8425 0.85 0.86 0.81 0.78 0.8286 0.86 0.12 T 0.999 D 0.934 D 0.011 N 0.000 P 1.24 L 2.32 T -1.107 T 0.000 T 0.215 5.276 33 5.57 2.619 7.769 19.547 5.276053 5.276053 0.07 0.849116 0.777475 NA 0.761 NA 10.8047174 580 6 35762937 35762937 G A exonic CLPS NA nonsynonymous SNV CLPS:NM_001252598:exon2:c.C202T:p.R68C,CLPS:NM_001832:exon3:c.C325T:p.R109C,CLPS:NM_001252597:exon4:c.C283T:p.R95C exonic ENSG00000137392 NA nonsynonymous SNV ENSG00000137392:ENST00000259938:exon3:c.C325T:p.R109C NA NA 6p21.31 NA NA NA NA rs41270082 0.0046 0.0046 0.004 0.00459265 0.0089 NA 0.0043 0.0008 0.0102 0.01 NA 0.0028 0.002 0.0116 0.011 0 D 0.996 D 0.556 P 0.058 N 1.000 N 1.935 M 0.96 T -1.032 T 0.048 T 0.076 2.764 15.21 -0.609 -0.530 0.164 1.160 2.764481 2.764481 0 0.011047 0.001589 NA NA NA 10.8017864 580 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$PPARG_03 Name=TBP,ZNF263,Sin3Ak-20,Pol2-4H8,TAF1,HEY1,KAP1,Pol2 NA NA rs3752536 0.8 0.8 0.792 0.8127 0.835 0.7123 0.8199 0.8253 0.8712 0.85 0.72 0.82 0.8 0.8476 0.88 . . 0.0 B 0.0 B 0.001 N 0.000 P -0.345 N . . -1.043 T 0.024 T 0.023 0.951 8.878 5.88 1.509 1.935 11.269 0.950939 NA 0.88 0.85093 0.8266 NA 0.906 NA 10.7998034 580 4 159601676 159601676 C T exonic ETFDH NA nonsynonymous SNV ETFDH:NM_004453:exon2:c.C92T:p.T31I exonic ENSG00000171503 NA nonsynonymous SNV ENSG00000171503:ENST00000511912:exon2:c.C92T:p.T31I Score=409;Name=lod=61 NA 4q32.1 NA NA NA NA rs11559290 0.72 0.72 0.693 0.672724 0.8638 0.9732 0.7378 0.1452 0.8333 0.86 0.97 0.78 0.18 0.8119 0.97 0.47 T 0.0 B 0.005 B 0.015 N 0.000 P 0.69 N -4.33 D -0.906 T 0.000 T 0.079 1.513 11.01 5.63 2.818 1.121 8.929 1.513167 1.513167 0.31 0.859967 0.259646 NA 0.623 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081080.1;CLNDSDB=.;CLNDSDBID=. 10.7976664 580 22 51117580 51117580 T C exonic SHANK3 NA nonsynonymous SNV SHANK3:NM_033517:exon6:c.T734C:p.I245T exonic ENSG00000251322 NA nonsynonymous SNV ENSG00000251322:ENST00000262795:exon6:c.T734C:p.I245T,ENSG00000251322:ENST00000414786:exon6:c.T734C:p.I245T,ENSG00000251322:ENST00000445220:exon6:c.T734C:p.I245T Score=649;Name=lod=577 NA 22q13.33 Score=725;Name=V$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 580 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$GATA1_01 NA NA NA rs455863 0.37 0.37 0.377 0.362021 0.5447 0.0933 0.4625 0.4054 0.3211 0.54 0.07 0.46 0.39 0.4609 0.54 0 D 0.0 B 0.0 B . . 0.000 P . . 1.52 T -0.993 T 0.000 T . -0.014 3.94 -9.87 -4.926 -5.110 6.235 -0.014333 NA 0 0.532442 0.415116 NA 0.254 NA 10.7952914 581 1 3389727 3389727 C T exonic ARHGEF16 NA nonsynonymous SNV ARHGEF16:NM_014448:exon7:c.C1108T:p.H370Y exonic ENSG00000130762 NA nonsynonymous SNV ENSG00000130762:ENST00000413250:exon2:c.C220T:p.H74Y,ENSG00000130762:ENST00000418137:exon2:c.C220T:p.H74Y,ENSG00000130762:ENST00000445297:exon3:c.C244T:p.H82Y,ENSG00000130762:ENST00000378371:exon4:c.C244T:p.H82Y,ENSG00000130762:ENST00000378373:exon5:c.C244T:p.H82Y,ENSG00000130762:ENST00000378378:exon7:c.C1108T:p.H370Y Score=417;Name=lod=66 NA 1p36.32 NA NA Name=7 NA rs2185639 0.69 0.69 0.671 0.684505 0.8638 0.6746 0.755 0.385 0.865 0.88 0.69 0.73 0.38 0.805 0.88 0.71 T 0.011 B 0.038 B 0.000 D 0.000 P 1.355 L 0.07 T -0.940 T 0.000 T 0.255 0.546 6.952 3.43 2.269 2.105 7.811 0.545543 NA 0.09 0.872209 0.468225 NA 0.565 NA 10.7923244 581 4 1374774 1374774 C T exonic UVSSA NA nonsynonymous SNV UVSSA:NM_020894:exon12:c.C1859T:p.P620L exonic ENSG00000163945 NA nonsynonymous SNV ENSG00000163945:ENST00000511563:exon5:c.C512T:p.P171L,ENSG00000163945:ENST00000512728:exon5:c.C512T:p.P171L,ENSG00000163945:ENST00000389851:exon12:c.C1859T:p.P620L,ENSG00000163945:ENST00000507531:exon12:c.C1859T:p.P620L,ENSG00000163945:ENST00000511216:exon12:c.C1859T:p.P620L NA NA 4p16.3 Score=672;Name=V$P53_01 NA NA NA rs28522910 0.71 0.71 0.656 0.696486 0.665 0.6984 0.7781 0.6997 0.6646 0.67 0.71 0.75 0.71 0.6946 0.75 0.01 D 0.67 P 0.035 B 0.007 N 0.001 P 1.895 L 1.35 T -1.015 T 0.000 T 0.2 1.778 11.9 4.56 2.093 5.173 14.483 1.777635 1.777635 0.02 0.681554 0.708504 NA 0.659 NA 10.7921794 581 4 47584046 47584046 G A exonic ATP10D NA nonsynonymous SNV ATP10D:NM_020453:exon21:c.G3718A:p.V1240I exonic ENSG00000145246 NA nonsynonymous SNV ENSG00000145246:ENST00000273859:exon21:c.G3718A:p.V1240I Score=574;Name=lod=288 NA 4p12 Score=806;Name=V$HNF1_C NA NA NA rs1058793 0.3 0.3 0.285 0.299521 0.16 0.5724 0.2493 0.3268 0.1605 0.15 0.55 0.23 0.3 0.2204 0.55 1 T 0.001 B 0.0 B 0.000 N 0.000 P -0.16 N 0.7 T -0.931 T 0.000 T 0.064 0.513 6.782 5.01 0.947 5.764 7.626 0.513172 NA 1 0.163721 0.293236 NA 0.232 NA 10.7892124 581 1 152329435 152329435 C T exonic FLG2 NA nonsynonymous SNV FLG2:NM_001014342:exon3:c.G827A:p.R276Q exonic ENSG00000143520 NA nonsynonymous SNV ENSG00000143520:ENST00000388718:exon3:c.G827A:p.R276Q NA NA 1q21.3 NA NA Name=3 NA rs2282303 0.32 0.32 0.305 0.348243 0.1441 0.502 0.4164 0.3631 0.3313 0.15 0.5 0.36 0.34 0.2407 0.5 0.68 T 0.005 B 0.0 B . . 1.000 P -0.49 N 5.81 T -1.090 T 0.000 T 0.028 -1.684 0.012 3.44 1.051 1.178 7.919 -1.684393 NA 0.85 0.160233 0.325919 NA 0.29 NA 10.7883004 581 11 5461991 5461991 C A exonic OR51I1 NA nonsynonymous SNV OR51I1:NM_001005288:exon1:c.G754T:p.A252S exonic ENSG00000167359 NA nonsynonymous SNV ENSG00000167359:ENST00000380211:exon1:c.G754T:p.A252S NA NA 11p15.4 Score=870;Name=V$TATA_01 Name=CTCF NA NA rs1498486 0.35 0.35 0.34 0.303315 0.5368 0.1319 0.464 0.1437 0.3415 0.58 0.14 0.43 0.21 0.462 0.58 0.02 D 0.904 P 0.5 P 0.000 D 1.000 P 1.68 L 8.65 T -1.289 T 0.000 T 0.149 3.04 16.14 1.46 0.682 -0.682 7.252 3.039566 3.039566 0 0.546428 0.202181 NA 0.428 NA 10.7881054 581 16 24888646 24888646 T C exonic SLC5A11 NA nonsynonymous SNV SLC5A11:NM_001258412:exon6:c.T335C:p.V112A,SLC5A11:NM_001258411:exon7:c.T440C:p.V147A,SLC5A11:NM_001258413:exon7:c.T353C:p.V118A,SLC5A11:NM_001258414:exon7:c.T353C:p.V118A,SLC5A11:NM_052944:exon7:c.T545C:p.V182A exonic ENSG00000158865 NA nonsynonymous SNV ENSG00000158865:ENST00000568579:exon5:c.T335C:p.V112A,ENSG00000158865:ENST00000539472:exon6:c.T353C:p.V118A,ENSG00000158865:ENST00000545376:exon6:c.T335C:p.V112A,ENSG00000158865:ENST00000567758:exon6:c.T440C:p.V147A,ENSG00000158865:ENST00000569071:exon6:c.T353C:p.V118A,ENSG00000158865:ENST00000347898:exon7:c.T545C:p.V182A,ENSG00000158865:ENST00000424767:exon7:c.T440C:p.V147A,ENSG00000158865:ENST00000449109:exon7:c.T353C:p.V118A,ENSG00000158865:ENST00000565769:exon7:c.T353C:p.V118A NA NA 16p12.1 NA NA NA NA rs11074656 0.22 0.22 0.219 0.178914 0.3787 0.0446 0.2305 0.1029 0.1779 0.39 0.06 0.27 0.12 0.2898 0.39 0.12 T 0.587 P 0.376 B 0.055 N 1.000 P 0.795 N -2.4 D -1.113 T 0.000 T 0.234 1.239 10.03 3.88 2.021 2.634 9.972 1.239429 1.239429 0.02 0.376744 0.148157 NA 0.239 NA 10.7880894 581 16 4476089 4476089 T C exonic DNAJA3 NA synonymous SNV DNAJA3:NM_001135110:exon1:c.T207C:p.L69L,DNAJA3:NM_005147:exon1:c.T207C:p.L69L exonic ENSG00000103423 NA nonsynonymous SNV ENSG00000103423:ENST00000431375:exon1:c.T97C:p.Y33H Score=508;Name=lod=155 NA 16p13.3 Score=923;Name=V$AREB6_01 Name=ZEB1_(SC-25388),Pol2,Sin3Ak-20 Name=12 NA rs1139652 0.7 0.7 0.687 0.641973 0.7386 0.7054 0.7118 0.5862 0.5031 0.73 0.75 0.75 0.56 0.7225 0.75 0 D 0.298 B 0.062 B . . 0.000 P . . 0.79 T -1.006 T 0.000 T . 2.122 13.05 4.5 0.885 0.090 8.501 2.122266 2.122266 NA 0.751047 0.609617 ID=COSM435261,COSM1478877;OCCURENCE=1(breast) 0.688 NA 10.787853 581 1 59004617 59004617 G A exonic OMA1 NA nonsynonymous SNV OMA1:NM_145243:exon2:c.C350T:p.P117L exonic ENSG00000162600 NA nonsynonymous SNV ENSG00000162600:ENST00000358603:exon2:c.C350T:p.P117L,ENSG00000162600:ENST00000371226:exon2:c.C350T:p.P117L,ENSG00000162600:ENST00000419242:exon2:c.C350T:p.P117L,ENSG00000162600:ENST00000426139:exon2:c.C350T:p.P117L,ENSG00000162600:ENST00000456980:exon2:c.C350T:p.P117L,ENSG00000162600:ENST00000453710:exon4:c.C350T:p.P117L NA NA 1p32.1 NA NA Name=2 NA rs17117720 0.04 0.04 0.041 0.0423323 0.0089 0.1359 0.0101 NA 0.0603 0.01 0.14 0.01 NA 0.0257 0.14 . . 0.952 P 0.436 B 0.057 N 1.000 P 1.78 L 2.47 T -1.074 T 0.001 T 0.262 1.189 9.835 4.04 2.775 -0.815 5.631 1.189472 NA 0.02 0.011977 0.002951 NA 0.036 NA 10.7867564 581 X 20071046 20071046 T C exonic MAP7D2 NA nonsynonymous SNV MAP7D2:NM_001168465:exon5:c.A545G:p.N182S,MAP7D2:NM_001168467:exon5:c.A413G:p.N138S,MAP7D2:NM_152780:exon5:c.A545G:p.N182S exonic ENSG00000184368 NA nonsynonymous SNV ENSG00000184368:ENST00000543767:exon3:c.A224G:p.N75S,ENSG00000184368:ENST00000379643:exon5:c.A545G:p.N182S,ENSG00000184368:ENST00000379651:exon5:c.A545G:p.N182S,ENSG00000184368:ENST00000452324:exon5:c.A413G:p.N138S Score=614;Name=lod=418 NA Xp22.12 Score=878;Name=V$FOXJ2_01 NA NA NA rs34519770 0.35 0.35 0.37281 NA NA NA NA NA NA 0.26 0.03 0.28 0.91 0.2794 0.91 1 T 0.001 B 0.007 B 0.000 N 0.000 P -0.735 N 4.06 T -1.006 T 0.000 T 0.025 0.137 4.736 2.93 -0.033 0.953 9.499 0.136847 NA 1 0.26843 0.833638 NA 0.261 NA 10.7855034 582 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=EBF,EBF1_(C-8),CTCF 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 582 11 5444136 5444136 C T exonic OR51Q1 NA stopgain OR51Q1:NM_001004757:exon1:c.C706T:p.R236X exonic ENSG00000167360 NA stopgain ENSG00000167360:ENST00000300778:exon1:c.C706T:p.R236X NA NA 11p15.4 NA Name=JunD NA NA rs2647574 0.44 0.44 0.416 0.453874 0.3986 0.7024 0.4006 0.2799 0.5276 0.37 0.69 0.41 0.28 0.4253 0.69 1 T . . . . 0.020 N 0.000 P . . . . . . . . . 0.984 9.017 -9.99 -1.753 -6.681 26.119 0.983956 NA 1 0.392367 0.30259 NA 0.312 NA 10.783733 582 8 17419461 17419461 G A exonic SLC7A2 NA nonsynonymous SNV SLC7A2:NM_001008539:exon10:c.G1513A:p.V505M,SLC7A2:NM_001164771:exon10:c.G1633A:p.V545M,SLC7A2:NM_003046:exon10:c.G1630A:p.V544M exonic ENSG00000003989 NA nonsynonymous SNV ENSG00000003989:ENST00000004531:exon10:c.G1633A:p.V545M,ENSG00000003989:ENST00000398090:exon10:c.G1630A:p.V544M,ENSG00000003989:ENST00000522656:exon10:c.G1513A:p.V505M,ENSG00000003989:ENST00000494857:exon11:c.G1513A:p.V505M,ENSG00000003989:ENST00000470360:exon12:c.G1630A:p.V544M NA NA 8p22 NA Name=Pol2 NA NA rs56335308 0.02 0.02 0.019 0.0167732 0.0109 0.0446 0.0115 0.0045 0.0143 0.01 0.05 0.01 0.01 0.0184 0.05 0.19 T 0.5 P 0.102 B 0.282 N 1.000 N 1.65 L -2.28 D -0.740 T 0.152 T 0.2 1.479 10.89 -3.61 -0.749 0.582 14.464 1.478727 1.478727 0.01 0.02593 0.009305 NA 0.014 NA 10.7781034 582 22 32811952 32811952 A G exonic BPIFC NA nonsynonymous SNV BPIFC:NM_174932:exon14:c.T1351C:p.S451P exonic ENSG00000184459 NA nonsynonymous SNV ENSG00000184459:ENST00000300399:exon14:c.T1351C:p.S451P,ENSG00000184459:ENST00000432451:exon14:c.T622C:p.S208P,ENSG00000184459:ENST00000534972:exon14:c.T523C:p.S175P,ENSG00000184459:ENST00000397452:exon15:c.T1351C:p.S451P Score=470;Name=lod=108 NA 22q12.3 Score=794;Name=V$COMP1_01 NA NA NA rs5998478 0.6 0.6 0.594 0.620807 0.4801 0.5565 0.5764 0.8737 0.5215 0.48 0.54 0.56 0.87 0.5549 0.87 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.005 N 4.9 T -1.010 T 0.000 T 0.141 0.435 6.362 5.5 1.470 3.469 10.873 0.434913 NA 1 0.520698 0.844984 ID=COSM444914;OCCURENCE=1(breast) 0.667 NA 10.7776354 582 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,TCF4,Rad21 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 582 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 582 1 55638075 55638075 G A exonic USP24 NA nonsynonymous SNV USP24:NM_015306:exon4:c.C677T:p.T226I exonic ENSG00000162402 NA nonsynonymous SNV ENSG00000162402:ENST00000407756:exon3:c.C341T:p.T114I,ENSG00000162402:ENST00000294383:exon4:c.C677T:p.T226I Score=529;Name=lod=189 NA 1p32.3 Score=799;Name=V$CDPCR3_01 Name=NRSF Name=10 NA rs1165222 0.9 0.9 0.899 0.907149 0.837 0.995 0.9164 0.8729 0.9284 0.83 1 0.9 0.89 0.8763 1 0.23 T 0.0 B 0.0 B 0.125 N 1.000 P -0.69 N 4.43 T -0.996 T 0.000 T 0.025 0.46 6.5 2.19 0.102 2.993 9.352 0.460362 NA 0.72 0.84401 0.865395 NA 0.899 NA 10.7760234 583 6 31122482 31122482 G A exonic CCHCR1 NA nonsynonymous SNV CCHCR1:NM_001105563:exon4:c.C484T:p.R162W,CCHCR1:NM_001105564:exon4:c.C592T:p.R198W,CCHCR1:NM_019052:exon4:c.C325T:p.R109W exonic ENSG00000204536 NA nonsynonymous SNV ENSG00000204536:ENST00000513222:exon3:c.C247T:p.R83W,ENSG00000204536:ENST00000376266:exon4:c.C325T:p.R109W,ENSG00000204536:ENST00000396263:exon4:c.C325T:p.R109W,ENSG00000204536:ENST00000396268:exon4:c.C592T:p.R198W,ENSG00000204536:ENST00000426967:exon4:c.C619T:p.R207W,ENSG00000204536:ENST00000448141:exon4:c.C217T:p.R73W,ENSG00000204536:ENST00000448162:exon4:c.C325T:p.R109W,ENSG00000204536:ENST00000451521:exon4:c.C484T:p.R162W,ENSG00000204536:ENST00000502557:exon4:c.C325T:p.R109W,ENSG00000204536:ENST00000503420:exon4:c.C217T:p.R73W,ENSG00000204536:ENST00000503934:exon4:c.C325T:p.R109W,ENSG00000204536:ENST00000507751:exon4:c.C325T:p.R109W,ENSG00000204536:ENST00000508683:exon4:c.C217T:p.R73W,ENSG00000204536:ENST00000455279:exon5:c.C325T:p.R109W,ENSG00000204536:ENST00000507829:exon5:c.C325T:p.R109W NA NA 6p21.33 NA NA NA NA rs130076 0.13 0.13 0.15 0.123403 0.1899 0.0387 0.0893 0.1293 0.1585 0.2 0.05 0.08 0.15 0.1584 0.21 0.07 T 0.096 B 0.027 B 0.300 N 1.000 P 1.95 M 3.42 T -1.073 T 0.013 T 0.371 2.741 15.13 5.33 2.510 1.616 14.564 2.740934 2.740934 0.07 0.210041 0.157266 NA 0.181 NA 10.7749924 583 19 21606719 21606719 C G exonic ZNF493 NA nonsynonymous SNV ZNF493:NM_175910:exon2:c.C874G:p.L292V,ZNF493:NM_001076678:exon4:c.C1258G:p.L420V exonic ENSG00000196268 NA nonsynonymous SNV ENSG00000196268:ENST00000355504:exon2:c.C874G:p.L292V,ENSG00000196268:ENST00000392288:exon4:c.C1258G:p.L420V NA NA 19p12 NA NA NA NA rs10414834 0.1 0.1 0.101 0.0904553 0.1998 0.0179 0.1023 0.0386 0.1145 0.19 0.03 0.13 0.04 0.1555 0.2 0.02 D 0.881 P 0.704 P . . 0.942 P 3.2 M 0.64 T -1.095 T 0.000 T 0.078 0.419 6.277 1.03 0.447 1.364 5.101 0.419191 NA 0 0.203471 0.065969 NA 0.159 NA 10.7745624 583 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 583 3 171969077 171969077 C G exonic FNDC3B NA nonsynonymous SNV FNDC3B:NM_001135095:exon6:c.C536G:p.T179S,FNDC3B:NM_022763:exon6:c.C536G:p.T179S exonic ENSG00000075420 NA nonsynonymous SNV ENSG00000075420:ENST00000443501:exon5:c.C455G:p.T152S,ENSG00000075420:ENST00000336824:exon6:c.C536G:p.T179S,ENSG00000075420:ENST00000415807:exon6:c.C536G:p.T179S,ENSG00000075420:ENST00000416957:exon6:c.C536G:p.T179S Score=636;Name=lod=512 Name=Height 3q26.31 NA NA NA NA rs7652177 0.61 0.61 0.621 0.644768 0.5169 0.5536 0.5634 0.9228 0.5521 0.51 0.51 0.58 0.91 0.5509 0.91 0.83 T 0.0 B 0.0 B 0.000 N 0.000 P -0.55 N 1.57 T -0.984 T 0.000 T 0.024 1.027 9.197 5.98 1.554 4.977 17.482 1.027387 NA 0.73 0.492558 0.852928 ID=COSM149516;OCCURENCE=1(stomach) 0.659 NA 10.7729754 583 12 108954862 108954862 G C exonic SART3 NA nonsynonymous SNV SART3:NM_014706:exon1:c.C69G:p.D23E exonic ENSG00000075856 NA nonsynonymous SNV ENSG00000075856:ENST00000228284:exon1:c.C69G:p.D23E,ENSG00000075856:ENST00000431469:exon1:c.C69G:p.D23E,ENSG00000075856:ENST00000546611:exon1:c.C69G:p.D23E,ENSG00000075856:ENST00000546728:exon1:c.C69G:p.D23E,ENSG00000075856:ENST00000546815:exon1:c.C69G:p.D23E,ENSG00000075856:ENST00000547528:exon1:c.C69G:p.D23E Score=321;Name=lod=27 NA 12q23.3 NA Name=Pol2,Pol2(phosphoS2),HA-E2F1,TAF7_(SQ-8),POU2F2,TAF1,NFKB,Pol2-4H8,HEY1,YY1_(C-20),Oct-2,c-Myc,Sin3Ak-20,E2F4,TBP,YY1,ZNF263 Name=148 NA rs2072579 0.24 0.24 0.197 0.250399 0.161 0.3819 0.389 0.1445 0.2515 0.15 0.37 0.35 0.16 0.2234 0.37 1 T 0.002 B 0.009 B 0.003 N 1.000 P -1.04 N 2.69 T -0.950 T 0.000 T 0.04 -0.664 1.09 3.15 0.789 -0.048 6.761 -0.664443 NA 1 0.178023 0.179301 NA 0.29 NA 10.7709104 583 16 89294439 89294439 G T exonic ZNF778 NA nonsynonymous SNV ZNF778:NM_182531:exon6:c.G1659T:p.Q553H,ZNF778:NM_001201407:exon7:c.G1743T:p.Q581H exonic ENSG00000170100 NA nonsynonymous SNV ENSG00000170100:ENST00000306502:exon5:c.G1533T:p.Q511H,ENSG00000170100:ENST00000433976:exon6:c.G1659T:p.Q553H Score=422;Name=lod=69 NA 16q24.3 NA Name=SETDB1 NA NA rs9921361 0.75 0.75 0.745 0.698083 0.8738 0.7113 0.8156 0.4932 0.6973 0.87 0.72 0.86 0.54 0.8071 0.88 0 D 0.002 B 0.001 B . . 1.000 P 0.865 L 2.2 T -1.008 T 0.000 T 0.032 1.757 11.83 -2.22 -1.827 -1.067 0.404 1.756903 1.756903 0.03 0.884129 0.575673 ID=COSM1380494;OCCURENCE=1(large_intestine) 0.703 NA 10.7683044 583 4 187158034 187158034 G A exonic KLKB1 NA nonsynonymous SNV KLKB1:NM_000892:exon5:c.G428A:p.S143N exonic ENSG00000164344 NA nonsynonymous SNV ENSG00000164344:ENST00000264690:exon5:c.G428A:p.S143N,ENSG00000164344:ENST00000446598:exon5:c.G314A:p.S105N,ENSG00000164344:ENST00000513864:exon5:c.G428A:p.S143N,ENSG00000164344:ENST00000414291:exon6:c.G314A:p.S105N,ENSG00000164344:ENST00000428196:exon6:c.G428A:p.S143N NA Name=Obesity-related traits 4q35.2 NA NA NA NA rs3733402 0.63 0.63 0.634 0.604633 0.5229 0.6825 0.5893 0.7753 0.3885 0.52 0.66 0.59 0.79 0.5365 0.79 1 T 0.0 B 0.001 B 0.000 N 1.000 P . . -2.33 D -1.014 T 0.000 T 0.108 -1.461 0.019 4.91 0.902 3.748 9.204 -1.460615 NA 1 0.506628 0.736496 ID=COSM149774;OCCURENCE=1(stomach) 0.601 CLINSIG=pathogenic;CLNDBN=Prekallikrein_deficiency;CLNREVSTAT=single;CLNACC=RCV000012817.23;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C0272339:612423:48976006 10.7673054 583 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 584 22 50470516 50470516 C T intergenic IL17REL,MLC1 dist=19461;dist=27304 NA NA exonic ENSG00000138892 NA nonsynonymous SNV ENSG00000138892:ENST00000440475:exon10:c.G1246A:p.A416T,ENSG00000138892:ENST00000266182:exon11:c.G1306A:p.A436T,ENSG00000138892:ENST00000433387:exon11:c.G1354A:p.A452T Score=552;Name=lod=234 NA 22q13.33 NA NA NA NA rs11101958 0.22 0.22 0.183 0.223642 0.2038 0.1825 0.317 0.2632 0.1667 0.2 0.17 0.28 0.25 0.194 0.28 0 D 0.931 P 0.403 B 0.000 D 0.617 P 1.755 L 3.38 T -0.915 T 0.000 T 0.507 2.874 15.57 2.9 0.262 2.570 11.032 2.873732 2.873732 0.01 0.172483 0.233667 NA 0.181 NA 10.7630504 584 15 86123364 86123364 G A exonic AKAP13 NA nonsynonymous SNV AKAP13:NM_006738:exon7:c.G2065A:p.E689K,AKAP13:NM_007200:exon7:c.G2065A:p.E689K exonic ENSG00000170776 NA nonsynonymous SNV ENSG00000170776:ENST00000361243:exon7:c.G2065A:p.E689K,ENSG00000170776:ENST00000394518:exon7:c.G2065A:p.E689K,ENSG00000170776:ENST00000559362:exon7:c.G2065A:p.E689K NA NA 15q25.3 NA Name=FOXA2_(SC-6554),GR,CTCF Name=12 NA rs7177107 0.09 0.09 0.089 0.0760783 0.1938 0.001 0.098 0.0091 0.1074 0.2 0.0017 0.1 0.02 0.1576 0.22 0.88 T 0.019 B 0.004 B . . 1.000 P -0.345 N 2.98 T -0.966 T 0.000 T 0.345 2.169 13.21 3.38 1.405 0.321 11.902 2.168651 2.168651 0 0.220284 0.048365 NA 0.072 NA 10.7616494 584 1 248550970 248550970 A G exonic OR2T6 NA nonsynonymous SNV OR2T6:NM_001005471:exon1:c.A61G:p.N21D exonic ENSG00000198104 NA nonsynonymous SNV ENSG00000198104:ENST00000355728:exon1:c.A61G:p.N21D NA NA 1q44 NA NA NA NA rs7417616 0.34 0.34 0.352 0.377396 0.1769 0.4375 0.3156 0.5234 0.3681 0.19 0.42 0.27 0.53 0.2454 0.53 0.03 D 0.0 B 0.0 B 0.265 N 1.000 P 0.6 N 4.09 T -0.953 T 0.000 T 0.018 1.75 11.81 -6.15 -1.171 -3.757 4.025 1.74987 1.74987 0.05 0.151047 0.454607 NA 0.246 NA 10.7599864 584 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 584 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 584 15 49293194 49293194 C A exonic SECISBP2L NA nonsynonymous SNV SECISBP2L:NM_014701:exon14:c.G1993T:p.V665L,SECISBP2L:NM_001193489:exon15:c.G2128T:p.V710L exonic ENSG00000138593 NA nonsynonymous SNV ENSG00000138593:ENST00000261847:exon14:c.G1993T:p.V665L,ENSG00000138593:ENST00000380927:exon15:c.G1414T:p.V472L,ENSG00000138593:ENST00000559471:exon15:c.G2128T:p.V710L Score=652;Name=lod=594 NA 15q21.1 NA NA NA NA rs11854184 0.1 0.1 0.101 0.076877 0.2018 0.003 0.1081 0.0408 0.0511 0.2 0.0035 0.12 0.05 0.1546 0.22 0.09 T 0.029 B 0.014 B 0.013 N 0.138 P 0.69 N 0.45 T -1.084 T 0.000 T 0.144 2.652 14.83 4.17 1.282 3.043 8.847 2.651974 2.651974 0.03 0.220838 0.062585 NA 0.116 NA 10.7560954 585 10 61868716 61868716 C A exonic ANK3 NA synonymous SNV ANK3:NM_001149:exon5:c.G447T:p.T149T,ANK3:NM_020987:exon27:c.G3045T:p.T1015T,ANK3:NM_001204403:exon28:c.G3027T:p.T1009T,ANK3:NM_001204404:exon28:c.G3048T:p.T1016T exonic ENSG00000151150 NA synonymous SNV ENSG00000151150:ENST00000355288:exon5:c.G447T:p.T149T,ENSG00000151150:ENST00000373815:exon5:c.G420T:p.T140T,ENSG00000151150:ENST00000513049:exon5:c.G420T:p.T140T,ENSG00000151150:ENST00000280772:exon27:c.G3045T:p.T1015T,ENSG00000151150:ENST00000373827:exon28:c.G3027T:p.T1009T,ENSG00000151150:ENST00000503366:exon28:c.G3048T:p.T1016T NA NA 10q21.2 Score=951;Name=V$PAX4_03 NA NA NA rs3750800 0.18 0.18 0.166 0.179113 0.3221 0.0704 0.2262 0.0272 0.316 0.31 0.07 0.27 0.04 0.264 0.33 . . . . . . . . 0.000 P . . . . -1.071 T 0.000 T . 0.281 5.518 -9.89 -2.001 -2.374 10.799 0.280589 NA NA 0.326395 0.070132 NA 0.167 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116332.2;CLNDSDB=.;CLNDSDBID=. 10.7541716 585 11 73681090 73681090 C T exonic DNAJB13 NA synonymous SNV DNAJB13:NM_153614:exon8:c.C882T:p.F294F exonic ENSG00000187726 NA synonymous SNV ENSG00000187726:ENST00000537753:exon5:c.C357T:p.F119F,ENSG00000187726:ENST00000543947:exon5:c.C357T:p.F119F,ENSG00000187726:ENST00000339764:exon8:c.C882T:p.F294F Score=523;Name=lod=178 NA 11q13.4 Score=740;Name=V$PAX4_04 Name=Pol2,ZNF274 NA NA rs2306819 0.27 0.27 0.27 0.252196 0.3161 0.1637 0.3847 0.2095 0.2413 0.33 0.16 0.36 0.22 0.2847 0.36 . . . . . . . . 0.000 P . . . . . . . . . 1.98 12.58 -6.43 -1.213 -0.949 10.275 1.979869 1.979869 NA 0.311787 0.217955 NA 0.21 NA 10.7540796 585 9 21970916 21970916 C T exonic CDKN2A NA nonsynonymous SNV CDKN2A:NM_000077:exon2:c.G442A:p.A148T,CDKN2A:NM_001195132:exon2:c.G442A:p.A148T exonic ENSG00000147889 NA nonsynonymous SNV ENSG00000147889:ENST00000578845:exon1:c.G289A:p.A97T,ENSG00000147889:ENST00000304494:exon2:c.G442A:p.A148T,ENSG00000147889:ENST00000446177:exon2:c.G442A:p.A148T,ENSG00000147889:ENST00000479692:exon2:c.G289A:p.A97T,ENSG00000147889:ENST00000497750:exon2:c.G289A:p.A97T,ENSG00000147889:ENST00000498124:exon2:c.G442A:p.A148T,ENSG00000147889:ENST00000498628:exon2:c.G289A:p.A97T,ENSG00000147889:ENST00000494262:exon3:c.G289A:p.A97T NA NA 9p21.3 NA Name=SUZ12 Name=5 NA rs3731249 0.01 0.01 0.017 0.00698882 0.0249 NA 0.0144 NA NA 0.03 NA 0.02 NA 0.0228 0.032 0.4 T 0.487 P 0.007 B . . 1.000 N 1.125 L -0.92 T -1.045 T 0.087 T 0.46 1.975 12.56 1.06 0.400 0.030 6.166 1.975321 1.975321 0 0.032093 0.003858 NA 0.007 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified|Hereditary_cutaneous_melanoma;CLNREVSTAT=mult|single|single;CLNACC=RCV000034482.2|RCV000078114.2|RCV000119155.1;CLNDSDB=.|.|MedGen;CLNDSDBID=.|.|C1512419 10.7535404 585 1 31349647 31349647 C T exonic SDC3 NA nonsynonymous SNV SDC3:NM_014654:exon3:c.G622A:p.V208I exonic ENSG00000162512 NA nonsynonymous SNV ENSG00000162512:ENST00000336798:exon1:c.G448A:p.V150I,ENSG00000162512:ENST00000339394:exon3:c.G622A:p.V208I NA NA 1p35.2 NA NA NA NA rs2491132 0.1 0.1 0.084 0.076278 0.2107 0.0347 0.1009 0.0091 0.0542 0.19 0.03 0.13 0.02 0.1599 0.21 0.25 T 0.002 B 0.001 B 0.716 N 1.000 P 0 N 1.99 T -0.956 T 0.000 T 0.022 -0.094 3.539 -8.71 -1.210 -2.237 6.035 -0.094098 NA 0.66 0.210863 0.041761 NA 0.203 CLINSIG=pathogenic;CLNDBN=Obesity\x2c_association_with;CLNREVSTAT=single;CLNACC=RCV000013593.16;CLNDSDB=.;CLNDSDBID=. 10.7518704 585 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 585 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 585 22 32871383 32871383 T G exonic FBXO7 NA nonsynonymous SNV FBXO7:NM_001033024:exon1:c.T35G:p.L12R exonic ENSG00000100225 NA nonsynonymous SNV ENSG00000100225:ENST00000382058:exon1:c.T35G:p.L12R,ENSG00000100225:ENST00000452138:exon1:c.T35G:p.L12R NA NA 22q12.3 NA Name=JunD,ZBTB7A_(SC-34508),c-Fos,YY1,TBP,Sin3Ak-20,HEY1,ELF1_(SC-631),Pol2-4H8,GABP,TAF1,Pol2,FOSL2 Name=136 NA rs8137714 0.18 0.18 0.172 0.154952 0.1928 0.1567 0.2161 0.1233 0.1135 0.2 0.17 0.23 0.11 0.1873 0.23 0.16 T 0.001 B 0.001 B . . 0.137 P 0 N 0.81 T -1.069 T 0.000 T 0.145 0.027 4.156 -6.13 -1.638 -0.257 0.584 0.027415 NA 0.12 0.204763 0.14769 ID=COSM444916;OCCURENCE=1(breast) 0.101 NA 10.7484704 585 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 585 17 56435885 56435885 G T exonic RNF43 NA nonsynonymous SNV RNF43:NM_017763:exon9:c.C1252A:p.L418M exonic ENSG00000108375 NA nonsynonymous SNV ENSG00000108375:ENST00000583753:exon7:c.C1129A:p.L377M,ENSG00000108375:ENST00000500597:exon8:c.C1129A:p.L377M,ENSG00000108375:ENST00000577625:exon8:c.C871A:p.L291M,ENSG00000108375:ENST00000581868:exon8:c.C871A:p.L291M,ENSG00000108375:ENST00000584437:exon8:c.C1252A:p.L418M,ENSG00000108375:ENST00000407977:exon9:c.C1252A:p.L418M,ENSG00000108375:ENST00000577716:exon9:c.C1252A:p.L418M NA NA 17q22 NA NA NA NA rs2526374 0.4 0.4 0.393 0.399561 0.329 0.4494 0.4669 0.4009 0.3712 0.33 0.45 0.45 0.4 0.3972 0.45 0.08 T 0.99 D 0.836 P 0.010 N 1.000 P 0.695 N 3.15 T -0.917 T 0.000 T 0.111 1.975 12.56 4.2 2.179 2.082 9.646 1.974857 1.974857 0 0.35907 0.402406 NA 0.333 NA 10.7480634 585 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$POU3F2_01 NA NA NA rs3824700 0.4 0.4 0.399 0.39357 0.5527 0.2937 0.3473 0.3116 0.4765 0.57 0.29 0.34 0.3 0.485 0.57 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.33 N -0.87 T -0.924 T 0.000 T 0.062 -0.156 3.24 5.56 0.949 4.608 6.739 -0.155574 NA 1 0.550116 0.367907 NA 0.457 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039050.1;CLNDSDB=.;CLNDSDBID=. 10.7455174 586 7 122078414 122078414 T G exonic CADPS2 NA synonymous SNV CADPS2:NM_001009571:exon16:c.A2448C:p.T816T,CADPS2:NM_001167940:exon17:c.A2457C:p.T819T,CADPS2:NM_017954:exon17:c.A2457C:p.T819T exonic ENSG00000081803 NA synonymous SNV ENSG00000081803:ENST00000313070:exon16:c.A2448C:p.T816T,ENSG00000081803:ENST00000334010:exon16:c.A2460C:p.T820T,ENSG00000081803:ENST00000412584:exon16:c.A2448C:p.T816T,ENSG00000081803:ENST00000449022:exon17:c.A2457C:p.T819T Score=762;Name=lod=1665 NA 7q31.32 Score=890;Name=V$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 586 11 57947163 57947163 G A exonic OR9Q1 NA nonsynonymous SNV OR9Q1:NM_001005212:exon3:c.G247A:p.A83T exonic ENSG00000186509 NA nonsynonymous SNV ENSG00000186509:ENST00000335397:exon3:c.G247A:p.A83T NA NA 11q12.1 Score=714;Name=V$NRSF_01 NA NA NA rs111629598 0.02 0.02 0.019 0.0141773 0.0348 NA 0.0216 0.0015 0.0194 0.04 NA 0.02 0.002 0.0283 0.04 0.15 T 0.839 P 0.169 B 0.115 N 0.998 N 1.135 L 7.57 T -0.642 T 0.000 T 0.089 0.889 8.61 4.84 2.680 0.459 13.251 0.888822 NA 0.14 0.032821 0.006361 NA 0.014 NA 10.7374124 586 X 65824986 65824986 C T exonic EDA2R NA nonsynonymous SNV EDA2R:NM_001242310:exon2:c.G170A:p.R57K,EDA2R:NM_001199687:exon3:c.G170A:p.R57K,EDA2R:NM_021783:exon3:c.G170A:p.R57K exonic ENSG00000131080 NA nonsynonymous SNV ENSG00000131080:ENST00000253392:exon2:c.G170A:p.R57K,ENSG00000131080:ENST00000396050:exon2:c.G170A:p.R57K,ENSG00000131080:ENST00000374719:exon3:c.G170A:p.R57K,ENSG00000131080:ENST00000450752:exon3:c.G170A:p.R57K,ENSG00000131080:ENST00000456230:exon3:c.G170A:p.R57K Score=563;Name=lod=258 NA Xq12 Score=837;Name=V$TAL1BETAE47_01 NA NA NA rs1385699 0.69 0.69 0.65262 NA NA NA NA NA NA 0.81 1 0.79 0.08 0.7988 1 1 T 0.427 B 0.126 B 0.024 N 0.000 P 0.35 N 2.13 T -0.868 T 0.000 T 0.062 0.661 7.543 4.04 1.841 3.661 12.700 0.661064 NA 0.91 0.797711 0.142634 NA 0.406 NA 10.7368224 587 10 88930249 88930249 A T exonic FAM35A NA nonsynonymous SNV FAM35A:NM_019054:exon5:c.A1648T:p.S550C exonic ENSG00000122376 NA nonsynonymous SNV ENSG00000122376:ENST00000298784:exon5:c.A1648T:p.S550C,ENSG00000122376:ENST00000298786:exon5:c.A1648T:p.S550C NA NA 10q23.2 NA NA NA NA rs11202365 0.26 0.26 0.267 0.275359 0.3638 0.1607 0.255 0.1785 0.4479 0.38 0.15 0.29 0.21 0.3463 0.39 0.04 D 0.995 D 0.785 P 0.362 N 1.000 P 1.04 L -0.13 T -0.930 T 0.000 T 0.222 1.727 11.73 2.92 0.630 1.260 4.882 1.727046 1.727046 0.02 0.388488 0.199955 NA 0.268 NA 10.7347454 587 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 587 17 8701799 8701799 G T exonic MFSD6L NA nonsynonymous SNV MFSD6L:NM_152599:exon1:c.C640A:p.P214T exonic ENSG00000185156 NA nonsynonymous SNV ENSG00000185156:ENST00000329805:exon1:c.C640A:p.P214T NA NA 17p13.1 NA NA NA NA rs17854013 0.26 0.26 0.255 0.26857 0.1889 0.4256 0.2147 0.2398 0.2658 0.18 0.44 0.22 0.21 0.219 0.44 0.66 T 0.922 P 0.598 P 0.107 N 1.000 P 1.39 L 0.94 T -0.963 T 0.000 T 0.035 0.969 8.956 3.89 1.257 1.414 12.075 0.969329 NA 0.37 0.191628 0.215615 NA 0.239 NA 10.7338054 587 10 72535007 72535007 C T exonic TBATA NA nonsynonymous SNV TBATA:NM_152710:exon8:c.G710A:p.R237Q exonic ENSG00000166220 NA nonsynonymous SNV ENSG00000166220:ENST00000299290:exon8:c.G710A:p.R237Q Score=363;Name=lod=40 NA 10q22.1 NA Name=p300,STAT3 Name=14 NA rs2254174 0.76 0.76 0.785 0.771565 0.8777 0.627 0.6888 0.7852 0.8517 0.87 0.6 0.74 0.81 0.8245 0.9 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.42 N 2.59 T -0.987 T 0.000 T 0.279 -0.274 2.689 5.33 0.977 2.959 8.355 -0.273611 NA 1 0.89814 0.79596 NA 0.841 NA 10.7329934 587 1 215960167 215960167 T G exonic USH2A NA nonsynonymous SNV USH2A:NM_206933:exon52:c.A10232C:p.E3411A exonic ENSG00000042781 NA nonsynonymous SNV ENSG00000042781:ENST00000307340:exon52:c.A10232C:p.E3411A,ENSG00000042781:ENST00000366943:exon52:c.A10232C:p.E3411A Score=243;Name=lod=13 NA 1q41 NA NA NA NA rs10864198 0.6 0.6 0.576 0.588658 0.5358 0.6518 0.4899 0.7057 0.4898 0.53 0.67 0.5 0.7 0.5469 0.7 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.24 N 3.21 T -0.970 T 0.000 T 0.156 -1.57 0.015 4.88 1.040 2.598 13.071 -1.570097 NA 1 0.518837 0.671584 NA 0.565 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000041665.2|RCV000126257.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.7317964 587 21 40549466 40549466 T C exonic PSMG1 NA synonymous SNV PSMG1:NM_203433:exon5:c.A624G:p.P208P,PSMG1:NM_001261824:exon6:c.A672G:p.P224P,PSMG1:NM_003720:exon6:c.A687G:p.P229P exonic ENSG00000183527 NA synonymous SNV ENSG00000183527:ENST00000380900:exon5:c.A624G:p.P208P,ENSG00000183527:ENST00000331573:exon6:c.A687G:p.P229P Score=289;Name=lod=20 NA 21q22.2 Score=950;Name=V$NFKB_C NA Name=3 NA rs14194 0.23 0.23 0.197 0.216254 0.3171 0.0446 0.2248 0.295 0.1769 0.32 0.05 0.25 0.28 0.273 0.35 . . . . . . . . 0.000 P . . . . -0.933 T 0.000 T . 0.767 8.054 -4.69 -1.025 -0.059 0.777 0.766614 NA NA 0.346395 0.302225 NA 0.283 NA 10.7301716 588 14 24901249 24901249 A C exonic KHNYN NA nonsynonymous SNV KHNYN:NM_015299:exon3:c.A782C:p.K261T exonic ENSG00000100441 NA nonsynonymous SNV ENSG00000100441:ENST00000251343:exon3:c.A782C:p.K261T,ENSG00000100441:ENST00000553935:exon3:c.A782C:p.K261T,ENSG00000100441:ENST00000556842:exon3:c.A782C:p.K261T NA NA 14q12 Score=949;Name=V$AREB6_04 Name=CTCF_(C-20),NFKB,BCLAF1_(M33-P5B11),ELF1_(SC-631),Pol2,Pol2(phosphoS2),CTCF,ZBTB7A_(SC-34508),CTCFL_(SC-98982),SMC3_(ab9263),ZNF263,Rad21 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 588 8 10466089 10466089 G C exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.C5519G:p.A1840G exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.C5519G:p.A1840G NA NA 8p23.1 NA NA NA NA rs77968698 0.02 0.02 0.022 0.0301518 0.0348 0.002 0.0159 0.0348 0.0583 0.03 0.0035 0.01 0.03 0.0349 0.04 0.17 T 0.982 D 0.624 P . . 1.000 N 0 N 3.05 T -0.969 T 0.004 T 0.034 1.439 10.75 3.44 1.450 0.060 6.699 1.439108 1.439108 0.13 0.039942 0.030117 NA 0.022 NA 10.7236914 588 22 19119751 19119751 C T exonic TSSK2 NA nonsynonymous SNV TSSK2:NM_053006:exon1:c.C839T:p.T280M exonic ENSG00000206203 NA nonsynonymous SNV ENSG00000206203:ENST00000399635:exon1:c.C839T:p.T280M Score=401;Name=lod=57 NA 22q11.21 Score=777;Name=V$HTF_01 NA NA NA rs1052763 0.24 0.24 0.243 0.277157 0.1948 0.2133 0.2233 0.3631 0.3497 0.2 0.21 0.23 0.36 0.2283 0.36 0.25 T 0.002 B 0.002 B 0.024 N 0.000 P -0.345 N -0.49 T -1.018 T 0.000 T 0.061 0.394 6.138 4.67 0.993 . 7.847 0.393751 NA 0.34 0.187791 0.318202 NA 0.254 NA 10.7224424 588 2 144899559 144899559 C A exonic GTDC1 NA nonsynonymous SNV GTDC1:NM_001006636:exon6:c.G411T:p.M137I,GTDC1:NM_001164629:exon6:c.G411T:p.M137I,GTDC1:NM_024659:exon6:c.G411T:p.M137I exonic ENSG00000121964 NA nonsynonymous SNV ENSG00000121964:ENST00000392871:exon4:c.G411T:p.M137I,ENSG00000121964:ENST00000463875:exon4:c.G24T:p.M8I,ENSG00000121964:ENST00000392869:exon5:c.G411T:p.M137I,ENSG00000121964:ENST00000409298:exon5:c.G411T:p.M137I,ENSG00000121964:ENST00000241391:exon6:c.G411T:p.M137I,ENSG00000121964:ENST00000344850:exon6:c.G411T:p.M137I,ENSG00000121964:ENST00000392867:exon6:c.G411T:p.M137I,ENSG00000121964:ENST00000409214:exon6:c.G411T:p.M137I,ENSG00000121964:ENST00000437114:exon6:c.G411T:p.M137I,ENSG00000121964:ENST00000542155:exon6:c.G411T:p.M137I Score=692;Name=lod=869 NA 2q22.3 Score=946;Name=V$NFAT_Q6 NA NA NA rs3731958 0.68 0.68 0.685 0.683706 0.5447 0.8413 0.7104 0.7443 0.5634 0.55 0.83 0.65 0.74 0.5781 0.83 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.875 N 1.78 T -0.943 T 0.000 T 0.187 0.255 5.38 4.9 1.134 1.888 13.011 0.255412 NA 1 0.489184 0.728325 NA 0.63 NA 10.7213494 588 1 158450314 158450314 A G exonic OR10R2 NA nonsynonymous SNV OR10R2:NM_001004472:exon1:c.A647G:p.E216G exonic ENSG00000198965 NA nonsynonymous SNV ENSG00000198965:ENST00000368152:exon1:c.A647G:p.E216G NA NA 1q23.1 NA NA NA NA rs6679056 0.55 0.55 0.52 0.496406 0.5577 0.5675 0.4424 0.4781 0.4233 0.57 0.61 0.45 0.5 0.5226 0.61 0.05 D 0.041 B 0.06 B . . 1.000 P 2.25 M 8.41 T -1.019 T 0.000 T 0.217 1.387 10.57 4.37 1.801 1.838 8.317 1.387362 1.387362 0.05 0.532791 0.48207 NA 0.522 NA 10.7202424 588 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 588 2 190445194 190445194 G C UTR5 SLC40A1 NM_014585:c.-8C>G NA NA UTR5 ENSG00000138449 ENST00000261024:c.-8C>G,ENST00000427241:c.-8C>G,ENST00000455320:c.-8C>G,ENST00000440626:c.-8C>G,ENST00000427419:c.-8C>G NA NA NA NA 2q32.2 NA Name=Pol2,E2F6_(H-50) Name=120 NA rs11568351 0.11 0.11 0.097 0.0950479 0.2266 0.0337 0.1095 0.0136 0.1227 0.22 0.03 0.12 0.02 0.1736 0.22 0 D . . . . . . 0.996 P . . . . -1.065 T 0.000 T . 1.871 12.21 2.97 1.239 1.204 6.763 1.870678 1.870678 0.84 0.217093 0.04857 NA 0.101 NA 10.7160404 589 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 589 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 589 4 3495095 3495095 G A exonic DOK7 NA nonsynonymous SNV DOK7:NM_001256896:exon4:c.G452A:p.G151D,DOK7:NM_173660:exon7:c.G1382A:p.G461D exonic ENSG00000175920 NA nonsynonymous SNV ENSG00000175920:ENST00000340083:exon7:c.G1382A:p.G461D,ENSG00000175920:ENST00000389653:exon7:c.G1382A:p.G461D NA NA 4p16.3 NA NA NA NA rs9684786 0.17 0.17 0.131 0.195487 0.1859 0.126 0.2536 0.1301 0.3241 0.19 0.1 0.25 0.14 0.252 0.25 0.08 T 0.728 P 0.447 P 0.003 N 0.993 P 1.87 L -0.05 T -1.101 T 0.000 T 0.236 1.709 11.67 2.59 0.667 2.742 11.252 1.708532 1.708532 0.01 0.184477 0.116241 NA 0.109 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116891.1;CLNDSDB=.;CLNDSDBID=. 10.7109564 589 10 102265183 102265183 G A exonic SEC31B NA nonsynonymous SNV SEC31B:NM_015490:exon10:c.C1114T:p.P372S exonic ENSG00000075826 NA nonsynonymous SNV ENSG00000075826:ENST00000370345:exon10:c.C1114T:p.P372S,ENSG00000075826:ENST00000451524:exon10:c.C1114T:p.P372S Score=559;Name=lod=250 NA 10q24.31 Score=846;Name=V$ZID_01 NA NA NA rs2295772 0.18 0.18 0.169 0.185104 0.1909 0.1319 0.1844 0.1997 0.2147 0.21 0.16 0.2 0.14 0.2124 0.22 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.24 N 0.74 T -1.024 T 0.000 T 0.118 0.161 4.865 3.47 0.123 2.770 1.708 0.160694 NA 1 0.220116 0.194734 NA 0.094 NA 10.7099174 589 11 3111866 3111866 C T exonic OSBPL5 NA nonsynonymous SNV OSBPL5:NM_001144063:exon19:c.G2116A:p.A706T,OSBPL5:NM_145638:exon19:c.G2116A:p.A706T,OSBPL5:NM_020896:exon20:c.G2320A:p.A774T exonic ENSG00000021762 NA nonsynonymous SNV ENSG00000021762:ENST00000478260:exon6:c.G682A:p.A228T,ENSG00000021762:ENST00000534454:exon9:c.G979A:p.A327T,ENSG00000021762:ENST00000542243:exon16:c.G1213A:p.A405T,ENSG00000021762:ENST00000525498:exon18:c.G2053A:p.A685T,ENSG00000021762:ENST00000348039:exon19:c.G2116A:p.A706T,ENSG00000021762:ENST00000389989:exon19:c.G2116A:p.A706T,ENSG00000021762:ENST00000263650:exon20:c.G2320A:p.A774T Score=559;Name=lod=249 NA 11p15.4 Score=802;Name=V$ER_Q6 NA NA NA rs2277301 0.15 0.15 0.152 0.166134 0.2296 0.0258 0.1052 0.1634 0.2924 0.24 0.03 0.14 0.15 0.2016 0.24 0.62 T 0.001 B 0.001 B 0.114 N 0.999 P -0.345 N 1.54 T -1.022 T 0.000 T 0.057 0.267 5.445 2.7 0.470 2.242 3.790 0.267206 NA 0.54 0.194044 0.155157 NA 0.101 NA 10.7080894 589 2 204154552 204154552 C T exonic CYP20A1 NA nonsynonymous SNV CYP20A1:NM_177538:exon10:c.C1036T:p.L346F exonic ENSG00000119004 NA nonsynonymous SNV ENSG00000119004:ENST00000356079:exon10:c.C1036T:p.L346F,ENSG00000119004:ENST00000429815:exon10:c.C1060T:p.L354F Score=614;Name=lod=419 NA 2q33.2 NA NA NA NA rs1048013 0.38 0.38 0.364 0.39996 0.5606 0.3194 0.4438 0.149 0.6258 0.54 0.28 0.51 0.17 0.5027 0.56 0.61 T 0.005 B 0.023 B 0.000 D 0.000 P 1.7 L -0.46 T -0.929 T 0.000 T 0.358 2.55 14.49 5.6 2.667 4.719 19.672 2.549672 2.549672 0.23 0.562442 0.222197 NA 0.391 NA 10.7075914 589 10 102269085 102269085 C A exonic SEC31B NA nonsynonymous SNV SEC31B:NM_015490:exon4:c.G387T:p.L129F exonic ENSG00000075826 NA nonsynonymous SNV ENSG00000075826:ENST00000469546:exon3:c.G387T:p.L129F,ENSG00000075826:ENST00000370329:exon4:c.G387T:p.L129F,ENSG00000075826:ENST00000370345:exon4:c.G387T:p.L129F,ENSG00000075826:ENST00000451524:exon4:c.G387T:p.L129F,ENSG00000075826:ENST00000462434:exon4:c.G387T:p.L129F Score=560;Name=lod=252 NA 10q24.31 NA Name=STAT3 Name=10 NA rs3793706 0.19 0.19 0.187 0.194089 0.1928 0.1319 0.1873 0.23 0.2157 0.21 0.16 0.2 0.18 0.2139 0.24 1 T 0.0 B 0.001 B 0.000 N 0.000 P -2.39 N 0.71 T -1.000 T 0.000 T 0.121 -0.092 3.549 4.77 0.501 0.670 1.367 -0.092094 NA 0.76 0.220814 0.240127 NA 0.116 NA 10.7058194 590 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 590 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=TBP,CCNT2,EBF,AP-2gamma,HA-E2F1,Pol2,Pol2-4H8,TAF1,HEY1,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 590 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 590 11 7673015 7673015 G A exonic PPFIBP2 NA synonymous SNV PPFIBP2:NM_001256569:exon19:c.G1947A:p.E649E,PPFIBP2:NM_001256568:exon20:c.G2040A:p.E680E,PPFIBP2:NM_003621:exon23:c.G2376A:p.E792E exonic ENSG00000166387 NA synonymous SNV ENSG00000166387:ENST00000530181:exon19:c.G1947A:p.E649E,ENSG00000166387:ENST00000528883:exon20:c.G2040A:p.E680E,ENSG00000166387:ENST00000533792:exon21:c.G1902A:p.E634E,ENSG00000166387:ENST00000299492:exon23:c.G2376A:p.E792E Score=608;Name=lod=396 NA 11p15.4 Score=807;Name=V$IRF2_01 Name=CTCF NA NA rs5864 0.66 0.66 0.648 0.660543 0.6392 0.6012 0.6138 0.7466 0.6605 0.65 0.63 0.63 0.75 0.6609 0.75 0.19 T . . . . 0.000 D 0.000 P . . . . -0.988 T 0.000 T . 0.835 8.368 2.16 -0.044 2.058 8.955 0.834661 NA NA 0.666899 0.734893 NA 0.623 NA 10.6996676 590 7 30795436 30795436 T G exonic INMT NA nonsynonymous SNV INMT:NM_001199219:exon3:c.T758G:p.F253C,INMT:NM_006774:exon3:c.T761G:p.F254C exonic ENSG00000241644 NA nonsynonymous SNV ENSG00000241644:ENST00000013222:exon3:c.T761G:p.F254C,ENSG00000241644:ENST00000409539:exon3:c.T758G:p.F253C NA NA 7p14.3 NA Name=p300,NRSF Name=54 NA rs4720015 0.81 0.81 0.778 0.773163 0.8986 0.8423 0.8963 0.5514 0.7853 0.9 0.82 0.88 0.59 0.8544 0.9 0.09 T 1.0 D 0.995 D 0.002 N 0.999 P 2.595 M 3.75 T -1.058 T 0.000 T 0.366 3.268 16.97 2.22 0.633 0.717 5.966 3.268417 3.268417 0.08 0.884651 0.593282 NA 0.768 NA 10.6956824 591 7 155531080 155531080 A G exonic RBM33 NA nonsynonymous SNV RBM33:NM_053043:exon11:c.A1720G:p.T574A exonic ENSG00000184863 NA nonsynonymous SNV ENSG00000184863:ENST00000401878:exon11:c.A1720G:p.T574A Score=259;Name=lod=15 NA 7q36.3 Score=784;Name=V$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 591 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 591 6 43184132 43184132 A C exonic CUL9 NA nonsynonymous SNV CUL9:NM_015089:exon31:c.A6173C:p.H2058P exonic ENSG00000112659 NA nonsynonymous SNV ENSG00000112659:ENST00000354495:exon29:c.A5843C:p.H1948P,ENSG00000112659:ENST00000252050:exon31:c.A6173C:p.H2058P,ENSG00000112659:ENST00000372647:exon31:c.A6089C:p.H2030P Score=304;Name=lod=23 NA 6p21.1 NA NA NA NA rs2273709 0.37 0.37 0.392 0.399361 0.174 0.4226 0.2233 0.7254 0.2914 0.18 0.41 0.23 0.72 0.2609 0.72 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.7 N 3.85 T -0.933 T 0.001 T 0.095 -1.547 0.015 5.7 1.430 2.797 10.902 -1.547485 NA 1 0.209651 0.661825 ID=COSM1444669;OCCURENCE=1(large_intestine) 0.449 NA 10.6887824 591 17 685640 685640 G T exonic RNMTL1 NA nonsynonymous SNV RNMTL1:NM_018146:exon1:c.G22T:p.A8S exonic ENSG00000171861 NA nonsynonymous SNV ENSG00000171861:ENST00000304478:exon1:c.G22T:p.A8S,ENSG00000171861:ENST00000574509:exon1:c.G22T:p.A8S NA NA 17p13.3 NA Name=FOSL2,USF2,Pol2,Pol2(phosphoS2),USF-1,CHD2_(N-1250),HA-E2F1,p300,TCF12,TAF7_(SQ-8),E2F6,POU2F2,CTCF,TAF1,RFX5_(N-494),NFKB,Znf143_(16618-1-AP),IRF4_(M-17),Pol2-4H8,ELF1_(SC-631),KAP1,HEY1,GRp20,ETS1,ATF3,E2F1,Max,ZBTB33,YY1_(C-20),Oct-2,c-Myc,SP1,SRF,Sin3Ak-20,SIX5,E2F4,Mxi1_(bHLH),NRSF,PAX5-C20,Pol2(b),TBP,CCNT2,YY1,BRCA1_(C-1863),ZBTB7A_(SC-34508),GR,ZNF263,MafK_(SC-477),GTF2F1_(RAP-74) Name=148 NA rs2273454 0.26 0.26 0.236 0.264177 0.1988 0.505 0.3314 0.0809 0.2832 0.21 0.44 0.3 0.09 0.2467 0.44 0.83 T 0.0 B 0.001 B 0.450 N 1.000 P 0 N 2.25 T -0.940 T 0.000 T 0.029 2.003 12.65 -8.41 -1.851 -0.782 1.984 2.002514 2.002514 0 0.199698 0.110531 NA 0.123 NA 10.6881354 591 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 592 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 592 7 156762224 156762224 G C exonic NOM1 NA nonsynonymous SNV NOM1:NM_138400:exon11:c.G2410C:p.V804L exonic ENSG00000146909 NA nonsynonymous SNV ENSG00000146909:ENST00000275820:exon11:c.G2410C:p.V804L Score=488;Name=lod=128 NA 7q36.3 NA NA NA NA rs2302443 0.46 0.46 0.474 0.457268 0.5706 0.2778 0.5274 0.469 0.4601 0.55 0.27 0.55 0.49 0.5091 0.57 0.74 T 0.025 B 0.026 B 0.000 D 0.001 P 1.395 L 2.66 T -0.913 T 0.000 T 0.045 1.294 10.23 4.52 2.532 1.076 3.830 1.294211 1.294211 NA 0.570116 0.475488 NA 0.667 NA 10.6835174 592 11 70118489 70118489 G A exonic PPFIA1 NA nonsynonymous SNV PPFIA1:NM_003626:exon2:c.G211A:p.V71I,PPFIA1:NM_177423:exon2:c.G211A:p.V71I exonic ENSG00000131626 NA nonsynonymous SNV ENSG00000131626:ENST00000532024:exon1:c.G211A:p.V71I,ENSG00000131626:ENST00000253925:exon2:c.G211A:p.V71I,ENSG00000131626:ENST00000389547:exon2:c.G211A:p.V71I,ENSG00000131626:ENST00000530746:exon2:c.G211A:p.V71I,ENSG00000131626:ENST00000532504:exon2:c.G211A:p.V71I Score=410;Name=lod=62 NA 11q13.3 NA NA NA NA rs546502 0.18 0.18 0.164 0.19369 0.2187 0.1052 0.2493 0.1543 0.273 0.21 0.1 0.25 0.16 0.2172 0.25 0.14 T 0.002 B 0.012 B 0.001 U 0.000 P 0.855 L 0.98 T -1.065 T 0.000 T 0.27 3.555 18.13 4.99 2.328 7.575 18.370 3.554908 3.554908 0.13 0.218211 0.143409 NA 0.145 NA 10.6792224 592 10 55755491 55755491 C T exonic PCDH15 NA nonsynonymous SNV PCDH15:NM_001142765:exon19:c.G2573A:p.R858Q,PCDH15:NM_001142767:exon20:c.G2675A:p.R892Q,PCDH15:NM_001142768:exon20:c.G2720A:p.R907Q,PCDH15:NM_001142773:exon20:c.G2720A:p.R907Q,PCDH15:NM_001142764:exon21:c.G2786A:p.R929Q,PCDH15:NM_001142766:exon21:c.G2786A:p.R929Q,PCDH15:NM_033056:exon21:c.G2786A:p.R929Q,PCDH15:NM_001142763:exon22:c.G2801A:p.R934Q exonic ENSG00000150275 NA nonsynonymous SNV ENSG00000150275:ENST00000409834:exon14:c.G1619A:p.R540Q,ENSG00000150275:ENST00000437009:exon19:c.G2573A:p.R858Q,ENSG00000150275:ENST00000395432:exon20:c.G2675A:p.R892Q,ENSG00000150275:ENST00000395433:exon20:c.G2720A:p.R907Q,ENSG00000150275:ENST00000320301:exon21:c.G2786A:p.R929Q,ENSG00000150275:ENST00000361849:exon21:c.G2786A:p.R929Q,ENSG00000150275:ENST00000373955:exon21:c.G2786A:p.R929Q,ENSG00000150275:ENST00000395430:exon21:c.G2786A:p.R929Q,ENSG00000150275:ENST00000395438:exon21:c.G2786A:p.R929Q,ENSG00000150275:ENST00000373965:exon22:c.G2807A:p.R936Q,ENSG00000150275:ENST00000395445:exon22:c.G2807A:p.R936Q,ENSG00000150275:ENST00000414778:exon23:c.G2801A:p.R934Q Score=340;Name=lod=32 NA 10q21.1 NA NA NA NA rs2135720 0.3 0.3 0.278 0.315296 0.1988 0.495 0.1859 0.2368 0.4479 0.21 0.54 0.18 0.24 0.2562 0.54 0.51 T 0.289 B 0.056 B . . 0.003 P -0.235 N 2.1 T -0.921 T 0.000 T 0.085 0.284 5.539 2.97 1.512 0.539 7.682 0.284333 NA 0.15 0.199884 0.233091 NA 0.174 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039715.1;CLNDSDB=.;CLNDSDBID=. 10.6784494 592 1 156354367 156354367 A G exonic RHBG NA nonsynonymous SNV RHBG:NM_020407:exon10:c.A1283G:p.H428R,RHBG:NM_001256395:exon11:c.A1076G:p.H359R,RHBG:NM_001256396:exon11:c.A1193G:p.H398R exonic ENSG00000132677 NA nonsynonymous SNV ENSG00000132677:ENST00000368246:exon10:c.A1280G:p.H427R Score=381;Name=lod=47 NA 1q22 NA NA NA NA rs6668857 0.72 0.72 0.737 0.733027 0.5149 0.8978 0.6686 0.8956 0.6135 0.52 0.88 0.66 0.9 0.6122 0.9 0 D . . . . . . 0.000 P . . 2.23 T -1.076 T 0.048 T 0.18 3.362 17.33 5.94 1.545 4.067 11.353 3.362164 3.362164 0.01 0.528807 0.84921 NA 0.804 NA 10.6774264 592 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 593 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 593 10 91468925 91468925 C G exonic KIF20B NA nonsynonymous SNV KIF20B:NM_016195:exon3:c.C149G:p.A50G exonic ENSG00000138182 NA nonsynonymous SNV ENSG00000138182:ENST00000260753:exon3:c.C149G:p.A50G,ENSG00000138182:ENST00000371728:exon3:c.C149G:p.A50G,ENSG00000138182:ENST00000394289:exon3:c.C149G:p.A50G,ENSG00000138182:ENST00000416354:exon3:c.C149G:p.A50G,ENSG00000138182:ENST00000447580:exon3:c.C149G:p.A50G Score=300;Name=lod=22 NA 10q23.31 Score=884;Name=V$FOXJ2_01 NA NA NA rs1129777 0.23 0.23 0.211 0.209065 0.2416 0.3621 0.2133 0.0492 0.2311 0.24 0.38 0.21 0.05 0.2204 0.38 0.41 T 0.918 P 0.504 P 0.658 N 0.780 P 0.895 L 2.29 T -1.067 T 0.000 T 0.1 2.653 14.83 -3.67 -0.240 0.276 0.439 2.652799 2.652799 0.16 0.200233 0.073536 NA 0.181 NA 10.6711004 593 1 215914826 215914826 T C exonic USH2A NA nonsynonymous SNV USH2A:NM_206933:exon60:c.A11602G:p.M3868V exonic ENSG00000042781 NA nonsynonymous SNV ENSG00000042781:ENST00000307340:exon60:c.A11602G:p.M3868V,ENSG00000042781:ENST00000366943:exon60:c.A11602G:p.M3868V NA NA 1q41 NA NA NA NA rs35309576 0.19 0.19 0.178 0.159345 0.2356 0.0843 0.196 0.2027 0.0736 0.23 0.1 0.22 0.23 0.196 0.23 0.36 T 0.0 B 0.0 B 0.917 N 1.000 P -0.09 N 2.69 T -0.919 T 0.000 T 0.064 0.27 5.46 -9.68 -1.693 -2.392 7.571 0.270032 NA 1 0.233256 0.189514 ID=COSM146766;OCCURENCE=1(stomach) 0.232 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041699.1|RCV000126261.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.6684774 593 19 49445817 49445817 T C exonic DHDH NA nonsynonymous SNV DHDH:NM_014475:exon5:c.T740C:p.V247A exonic ENSG00000104808 NA nonsynonymous SNV ENSG00000104808:ENST00000523250:exon3:c.T323C:p.V108A,ENSG00000104808:ENST00000221403:exon5:c.T740C:p.V247A Score=349;Name=lod=35 NA 19q13.33 Score=920;Name=V$AREB6_01 NA NA NA rs11666105 0.41 0.41 0.403 0.453474 0.2058 0.5704 0.2954 0.6967 0.3712 0.23 0.55 0.26 0.66 0.2877 0.66 0.09 T 0.0 B 0.002 B 0.001 N 0.001 P -0.38 N 1.9 T -0.999 T 0.000 T 0.035 -0.088 3.572 2.52 0.301 2.693 4.394 -0.087501 NA 0.16 0.17314 0.628688 NA 0.362 NA 10.6666934 593 3 46009864 46009864 C G exonic FYCO1 NA nonsynonymous SNV FYCO1:NM_024513:exon8:c.G962C:p.G321A exonic ENSG00000163820 NA nonsynonymous SNV ENSG00000163820:ENST00000535325:exon7:c.G962C:p.G321A,ENSG00000163820:ENST00000296137:exon8:c.G962C:p.G321A Score=325;Name=lod=28 NA 3p21.31 NA Name=CTCF Name=5 NA rs3733100 0.52 0.52 0.47 0.532947 0.5557 0.6667 0.6427 0.2095 0.7311 0.58 0.64 0.62 0.23 0.567 0.64 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.015 N 2.22 T -0.946 T 0.000 T 0.035 -1.152 0.101 3.84 0.750 1.625 7.651 -1.151688 NA 1 0.543953 0.246482 NA 0.442 NA 10.6666804 593 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 594 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 594 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 594 X 152482796 152482796 C T exonic MAGEA1 NA nonsynonymous SNV MAGEA1:NM_004988:exon3:c.G215A:p.R72Q exonic ENSG00000198681 NA nonsynonymous SNV ENSG00000198681:ENST00000356661:exon3:c.G215A:p.R72Q NA NA Xq28 NA NA NA NA rs2008144 0.21 0.21 0.19078 NA NA NA NA NA NA 0.04 0.43 0.27 0.17 0.1221 0.43 0.28 T 0.902 P 0.396 B 0.000 N 1.000 P 0.69 N 3.68 T -0.986 T 0.000 T 0.02 0.171 4.922 -2.38 -1.902 -2.253 0.432 0.171293 NA 0.19 0.048603 0.148892 NA 0.167 NA 10.6626304 594 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 594 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 594 9 96212813 96212813 C T exonic FAM120AOS NA nonsynonymous SNV FAM120AOS:NM_198841:exon2:c.G632A:p.S211N exonic ENSG00000188938 NA nonsynonymous SNV ENSG00000188938:ENST00000375412:exon2:c.G632A:p.S211N,ENSG00000188938:ENST00000423591:exon2:c.G86A:p.S29N,ENSG00000188938:ENST00000428378:exon2:c.G83A:p.S28N,ENSG00000188938:ENST00000476484:exon2:c.G86A:p.S29N NA NA 9q22.31 NA Name=E2F6_(H-50),Max,c-Myc Name=9 NA rs41274386 0.03 0.03 0.023 0.0239617 0.0487 0.0248 0.0303 0.0061 0.0174 0.05 0.02 0.04 0.01 0.0532 0.069 0 D 0.463 P 0.277 B . . 1.000 N 0 N 1.16 T -1.080 T 0.008 T 0.073 1.015 9.147 1.69 0.661 -0.248 6.791 1.015339 NA 0 0.069419 0.017022 NA 0.014 NA 10.6620144 594 3 46450070 46450070 T A exonic CCRL2 NA nonsynonymous SNV CCRL2:NM_001130910:exon2:c.T536A:p.F179Y,CCRL2:NM_003965:exon2:c.T500A:p.F167Y exonic ENSG00000121797 NA nonsynonymous SNV ENSG00000121797:ENST00000400882:exon1:c.T500A:p.F167Y,ENSG00000121797:ENST00000357392:exon2:c.T536A:p.F179Y,ENSG00000121797:ENST00000399036:exon2:c.T500A:p.F167Y,ENSG00000121797:ENST00000400880:exon2:c.T500A:p.F167Y,ENSG00000121797:ENST00000433848:exon3:c.T500A:p.F167Y NA NA 3p21.31 NA NA NA NA rs3204849 0.37 0.37 0.355 0.348842 0.3996 0.5615 0.379 0.0885 0.408 0.4 0.53 0.4 0.11 0.38 0.53 0 D 0.706 P 0.286 B 0.122 N 1.000 P 2.05 M 1.16 T -1.010 T 0.000 T 0.351 2.766 15.21 -7.81 -1.990 0.295 3.534 2.766215 2.766215 0.1 0.391908 0.127358 NA 0.283 NA 10.6618254 594 15 45404066 45404066 G A exonic DUOX2 NA nonsynonymous SNV DUOX2:NM_014080:exon5:c.C413T:p.P138L exonic ENSG00000140279 NA nonsynonymous SNV ENSG00000140279:ENST00000389039:exon5:c.C413T:p.P138L,ENSG00000140279:ENST00000603300:exon5:c.C413T:p.P138L Score=317;Name=lod=26 NA 15q21.1 Score=818;Name=V$MYCMAX_03 Name=SUZ12 NA NA rs2001616 0.78 0.78 0.754 0.759984 0.9115 0.9196 0.804 0.3555 0.955 0.92 0.9 0.85 0.39 0.8624 0.92 0.06 T 0.031 B 0.049 B 0.000 D 0.000 P 2.035 M . . -1.064 T 0.000 T 0.06 2.721 15.06 1.9 0.603 2.409 6.759 2.721245 2.721245 0.02 0.903094 0.430391 NA 0.797 NA 10.6563394 594 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 595 14 24909362 24909362 T C exonic SDR39U1 NA nonsynonymous SNV SDR39U1:NM_020195:exon6:c.A809G:p.Q270R exonic ENSG00000100445 NA nonsynonymous SNV ENSG00000100445:ENST00000399390:exon3:c.A524G:p.Q175R,ENSG00000100445:ENST00000538105:exon4:c.A563G:p.Q188R,ENSG00000100445:ENST00000553343:exon4:c.A491G:p.Q164R,ENSG00000100445:ENST00000554698:exon4:c.A485G:p.Q162R,ENSG00000100445:ENST00000555365:exon5:c.A308G:p.Q103R,ENSG00000100445:ENST00000399395:exon6:c.A809G:p.Q270R,ENSG00000100445:ENST00000553930:exon6:c.A434G:p.Q145R Score=381;Name=lod=47 NA 14q12 NA Name=Pol2 Name=8 NA rs1043831 0.8 0.8 0.768 0.765176 0.9046 0.8393 0.8516 0.4667 0.8875 0.92 0.83 0.86 0.54 0.8634 0.92 0.35 T 0.0 B 0.003 B 0.000 N 0.000 P -0.42 N 0.89 T -0.996 T 0.000 T 0.221 0.986 9.026 5.27 1.370 3.581 8.619 0.986019 NA 0.01 0.912548 0.554599 NA 0.783 NA 10.6527854 595 1 9009406 9009406 C T exonic CA6 NA nonsynonymous SNV CA6:NM_001215:exon2:c.C164T:p.T55M,CA6:NM_001270500:exon2:c.C164T:p.T55M exonic ENSG00000131686 NA nonsynonymous SNV ENSG00000131686:ENST00000319474:exon2:c.C164T:p.T55M,ENSG00000131686:ENST00000377436:exon2:c.C164T:p.T55M,ENSG00000131686:ENST00000377443:exon2:c.C164T:p.T55M,ENSG00000131686:ENST00000480186:exon2:c.C164T:p.T55M,ENSG00000131686:ENST00000549778:exon2:c.C164T:p.T55M NA NA 1p36.23 NA NA NA NA rs2274327 0.29 0.29 0.242 0.270168 0.4155 0.2431 0.3775 0.0809 0.3282 0.39 0.26 0.4 0.1 0.3544 0.41 0.05 D 0.987 D 0.715 P 0.734 N 1.000 P 0.93 L -0.32 T -1.028 T 0.000 T 0.365 3.056 16.2 -7.73 -1.540 -0.262 12.547 3.056074 3.056074 0.04 0.413837 0.144122 NA 0.225 NA 10.6495964 595 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 595 7 82785097 82785097 T C exonic PCLO NA nonsynonymous SNV PCLO:NM_014510:exon2:c.A860G:p.D287G,PCLO:NM_033026:exon2:c.A860G:p.D287G exonic ENSG00000186472 NA nonsynonymous SNV ENSG00000186472:ENST00000333891:exon2:c.A860G:p.D287G,ENSG00000186472:ENST00000423517:exon2:c.A860G:p.D287G Score=391;Name=lod=52 NA 7q21.11 NA NA NA NA rs61741659 0.17 0.17 0.161 0.153355 0.2664 0.0675 0.147 0.1225 0.1718 0.26 0.08 0.16 0.14 0.1909 0.26 0 D 0.021 B 0.013 B . . 0.000 P 0.805 L 2.08 T -1.009 T 0.000 T 0.243 0.904 8.676 4.08 0.819 2.445 9.685 0.903995 NA 0.52 0.227262 0.126628 NA 0.21 NA 10.6487714 595 17 3495374 3495374 G A exonic TRPV1 NA nonsynonymous SNV TRPV1:NM_080706:exon1:c.C271T:p.P91S,TRPV1:NM_018727:exon2:c.C271T:p.P91S,TRPV1:NM_080705:exon2:c.C271T:p.P91S,TRPV1:NM_080704:exon3:c.C271T:p.P91S exonic ENSG00000196689,ENSG00000262304 NA nonsynonymous SNV ENSG00000196689:ENST00000310522:exon1:c.C271T:p.P91S,ENSG00000196689:ENST00000399756:exon1:c.C271T:p.P91S,ENSG00000196689:ENST00000425167:exon1:c.C271T:p.P91S,ENSG00000196689:ENST00000576351:exon1:c.C271T:p.P91S,ENSG00000196689:ENST00000399759:exon2:c.C271T:p.P91S,ENSG00000196689:ENST00000571088:exon2:c.C271T:p.P91S,ENSG00000262304:ENST00000572705:exon3:c.C271T:p.P91S Score=333;Name=lod=30 NA 17p13.2 NA NA NA NA rs222749 0.1 0.1 0.079 0.0958466 0.0616 0.2401 0.1066 0.0023 0.1012 0.06 0.24 0.1 0.0041 0.0741 0.24 0.18 T 0.495 P 0.077 B 0.034 N 0.000 P 1.265 L 1.56 T -1.084 T 0.000 T 0.441 1.384 10.56 3.69 2.583 0.442 9.506 1.384333 1.384333 0.1 0.049365 0.009649 NA 0.051 NA 10.6482684 595 10 90512306 90512306 G C exonic LIPK NA nonsynonymous SNV LIPK:NM_001080518:exon9:c.G993C:p.M331I exonic ENSG00000204021 NA nonsynonymous SNV ENSG00000204021:ENST00000404190:exon9:c.G993C:p.M331I Score=300;Name=lod=22 NA 10q23.31 NA NA NA NA rs1214464 0.18 0.18 0.176 0.185104 0.2097 0.2877 0.2781 0.0068 0.229 0.2 0.29 0.22 0.01 0.2704 0.29 0.72 T 0.275 B 0.213 B 0.021 N 0.263 P 0.275 N 0.02 T -1.058 T 0.000 T 0.09 2.655 14.84 3.69 1.583 2.593 10.428 2.655169 2.655169 0.03 0.205331 0.048525 NA 0.094 NA 10.6479024 595 X 35821055 35821055 A G exonic MAGEB16 NA nonsynonymous SNV MAGEB16:NM_001099921:exon2:c.A742G:p.M248V exonic ENSG00000189023 NA nonsynonymous SNV ENSG00000189023:ENST00000399985:exon2:c.A742G:p.M248V,ENSG00000189023:ENST00000399988:exon2:c.A742G:p.M248V,ENSG00000189023:ENST00000399989:exon2:c.A742G:p.M248V,ENSG00000189023:ENST00000399987:exon3:c.A742G:p.M248V,ENSG00000189023:ENST00000399992:exon3:c.A838G:p.M280V NA NA Xp21.1 NA NA NA NA rs4829390 0.55 0.55 NA NA NA NA NA NA NA 0.48 0.66 0.54 0.53 0.5726 0.66 0 D 0.004 B 0.005 B 0.374 N 1.000 P -0.55 N 3.61 T -0.899 T 0.000 T 0.049 0.002 4.024 -6.12 -4.139 -1.986 7.410 0.00186 NA 0.01 0.114358 0.11265 NA NA NA 10.6463754 595 11 33596277 33596277 G A exonic KIAA1549L NA synonymous SNV KIAA1549L:NM_012194:exon9:c.G3369A:p.P1123P exonic ENSG00000110427 NA synonymous SNV ENSG00000110427:ENST00000265654:exon9:c.G3387A:p.P1129P,ENSG00000110427:ENST00000321505:exon9:c.G3369A:p.P1123P,ENSG00000110427:ENST00000389726:exon9:c.G3387A:p.P1129P NA NA 11p13 Score=824;Name=V$HNF4_01 NA NA NA rs139772715 0.0046 0.0046 0.003 0.00259585 0.008 NA 0.0029 0.0008 0.002 0.01 NA 0.01 0.002 0.0055 0.01 . . . . . . . . 1.000 D . . . . -0.757 T 0.117 T . 1.182 9.807 -9.29 -1.446 -0.341 10.538 1.182164 NA NA 0.007692 0.000751 NA NA NA 10.6454746 595 7 142919731 142919731 C A exonic TAS2R40 NA nonsynonymous SNV TAS2R40:NM_176882:exon1:c.C560A:p.S187Y exonic ENSG00000221937 NA nonsynonymous SNV ENSG00000221937:ENST00000408947:exon1:c.C560A:p.S187Y NA NA 7q34 NA NA NA NA rs10260248 0.07 0.07 0.066 0.081869 0.0577 0.0218 0.0692 0.1384 0.1012 0.05 0.02 0.09 0.14 0.0711 0.14 0.1 T 0.759 P 0.355 B 0.269 U 1.000 P 2.165 M 5.65 T -0.905 T 0.000 T 0.095 -1.244 0.053 2.07 1.149 -0.804 7.099 -1.244212 NA 0.35 0.059443 0.133947 NA 0.101 NA 10.6450904 596 8 21550800 21550800 A T exonic GFRA2 NA nonsynonymous SNV GFRA2:NM_001165039:exon7:c.T986A:p.L329Q,GFRA2:NM_001165038:exon8:c.T1070A:p.L357Q,GFRA2:NM_001495:exon9:c.T1385A:p.L462Q exonic ENSG00000168546 NA nonsynonymous SNV ENSG00000168546:ENST00000518077:exon7:c.T986A:p.L329Q,ENSG00000168546:ENST00000400782:exon8:c.T1070A:p.L357Q,ENSG00000168546:ENST00000517892:exon8:c.T1070A:p.L357Q,ENSG00000168546:ENST00000524240:exon9:c.T1385A:p.L462Q,ENSG00000168546:ENST00000517328:exon11:c.T1385A:p.L462Q Score=371;Name=lod=43 NA 8p21.3 NA NA NA NA rs1128397 0.38 0.38 0.396 0.372005 0.4026 0.4296 0.3228 0.3396 0.3599 0.41 0.44 0.31 0.34 0.3867 0.44 0.06 T 0.997 D 0.879 P 0.003 N 0.037 P 1.87 L 1.61 T -0.931 T 0.000 T 0.234 3.462 17.73 2.85 0.299 2.372 9.679 3.462459 3.462459 0.04 0.39921 0.333417 NA 0.377 NA 10.6448234 596 1 201184275 201184275 C T exonic IGFN1 NA synonymous SNV IGFN1:NM_001164586:exon14:c.C8988T:p.T2996T exonic ENSG00000163395 NA synonymous SNV ENSG00000163395:ENST00000295591:exon14:c.C468T:p.T156T,ENSG00000163395:ENST00000335211:exon14:c.C8988T:p.T2996T,ENSG00000163395:ENST00000437879:exon15:c.C1617T:p.T539T,ENSG00000163395:ENST00000451870:exon15:c.C1617T:p.T539T NA NA 1q32.1 Score=833;Name=V$ER_Q6 Name=ERalpha_a NA NA rs2275673 0.33 0.33 0.301 0.329872 0.3509 0.3452 0.3314 0.2383 0.4151 0.35 0.38 0.32 0.26 0.3371 0.38 . . . . . . . . 1.000 P . . . . -1.054 T 0.000 T . 0.552 6.988 -6.29 -2.397 -1.251 10.846 0.552422 NA NA 0.335465 0.266909 NA 0.254 NA 10.6432016 596 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$CEBP_C NA NA NA rs35819807 0.16 0.16 0.163 0.139976 0.2485 0.0367 0.1052 0.1626 0.1288 0.25 0.04 0.12 0.17 0.1953 0.25 0.28 T 0.009 B 0.004 B 0.426 N 1.000 P 0.41 N -5.58 D -0.394 T 0.001 T 0.032 1.057 9.316 -7.62 -1.025 0.188 6.958 1.056938 NA 0.1 0.246744 0.164094 NA 0.152 NA 10.6427894 596 5 34998877 34998877 C A exonic AGXT2 NA nonsynonymous SNV AGXT2:NM_031900:exon14:c.G1492T:p.V498L exonic ENSG00000113492 NA nonsynonymous SNV ENSG00000113492:ENST00000510428:exon12:c.G1267T:p.V423L,ENSG00000113492:ENST00000231420:exon14:c.G1492T:p.V498L Score=414;Name=lod=64 NA 5p13.2 Score=859;Name=V$NKX3A_01 NA NA NA rs16899974 0.24 0.24 0.241 0.235623 0.2266 0.4216 0.2608 0.0461 0.2914 0.22 0.42 0.26 0.04 0.2369 0.42 0.52 T 0.088 B 0.041 B 0.052 N 0.993 P 1.355 L 2.26 T -0.916 T 0.000 T 0.131 1.005 9.105 3.85 0.313 1.044 10.616 1.005038 NA 0.34 0.229302 0.075579 NA 0.225 NA 10.6405314 596 14 103576415 103576415 A G exonic EXOC3L4 NA nonsynonymous SNV EXOC3L4:NM_001077594:exon11:c.A2024G:p.Q675R exonic ENSG00000205436 NA nonsynonymous SNV ENSG00000205436:ENST00000380069:exon11:c.A2024G:p.Q675R NA NA 14q32.32 Score=849;Name=V$RFX1_02 Name=c-Fos,BAF155,eGFP-JunD,Ini1 Name=105 NA rs729184 0.75 0.75 0.748 0.771166 0.9155 0.7341 0.7363 0.6316 0.8742 0.91 0.71 0.71 0.6 0.8567 0.92 1 T 0.0 B 0.0 B 0.005 N 1.000 P -2.015 N 3.31 T -1.009 T 0.000 T 0.183 -1.466 0.019 4.05 1.085 2.005 8.074 -1.466122 NA 1 0.921392 0.695642 NA 0.457 NA 10.6397414 596 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 596 5 475104 475104 A G exonic SLC9A3 NA nonsynonymous SNV SLC9A3:NM_004174:exon16:c.T2395C:p.C799R exonic ENSG00000066230 NA nonsynonymous SNV ENSG00000066230:ENST00000264938:exon16:c.T2395C:p.C799R,ENSG00000066230:ENST00000514375:exon16:c.T2368C:p.C790R Score=403;Name=lod=58 NA 5p15.33 NA NA Name=36 NA rs2247114 0.75 0.75 0.757 NA NA NA NA NA NA 0.85 0.51 0.75 0.85 0.8253 0.87 1 T 0.0 B 0.0 B 0.474 N 0.161 P -2.16 N -0.3 T -0.960 T 0.000 T 0.022 -1.649 0.012 3.84 1.045 1.936 7.296 -1.648975 NA 1 0.869879 0.874148 NA 0.833 NA 10.6381544 596 11 1081112 1081112 G C exonic MUC2 NA nonsynonymous SNV MUC2:NM_002457:exon11:c.G1408C:p.E470Q exonic ENSG00000198788 NA nonsynonymous SNV ENSG00000198788:ENST00000359061:exon11:c.G1408C:p.E470Q,ENSG00000198788:ENST00000441003:exon11:c.G1408C:p.E470Q Score=272;Name=lod=17 NA 11p15.5 NA NA NA NA rs41345745 0.31 0.31 0.28 0.36222 0.2197 0.376 0.3617 0.4198 0.4172 0.21 0.39 0.29 0.38 0.274 0.39 0.52 T 0.315 B 0.378 B 0.371 N 1.000 P . . 0.26 T -0.958 T 0.000 T 0.065 0.975 8.98 2.82 1.958 2.410 12.341 0.975023 NA 0.36 0.202952 0.387437 NA 0.225 NA 10.6366814 597 6 153296370 153296370 G A exonic FBXO5 NA nonsynonymous SNV FBXO5:NM_001142522:exon2:c.C352T:p.L118F,FBXO5:NM_012177:exon2:c.C490T:p.L164F exonic ENSG00000112029 NA nonsynonymous SNV ENSG00000112029:ENST00000229758:exon2:c.C490T:p.L164F,ENSG00000112029:ENST00000367241:exon2:c.C352T:p.L118F NA NA 6q25.2 NA Name=FOXA1_(C-20) NA NA rs7763565 0.09 0.09 0.072 0.0954473 0.0517 0.0198 0.1988 0.1551 0.0644 0.06 0.03 0.17 0.14 0.0837 0.17 0.1 T 0.976 D 0.694 P 0.284 N 1.000 P 1.905 M 0.84 T -1.063 T 0.086 T 0.055 2.7 14.99 0.943 0.417 0.319 4.423 2.700064 2.700064 0.12 0.063837 0.138675 NA 0.101 NA 10.6340964 597 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 597 16 818559 818559 A G exonic MSLN NA nonsynonymous SNV MSLN:NM_013404:exon16:c.A1801G:p.M601V,MSLN:NM_001177355:exon17:c.A1777G:p.M593V,MSLN:NM_005823:exon17:c.A1777G:p.M593V exonic ENSG00000102854 NA nonsynonymous SNV ENSG00000102854:ENST00000561896:exon7:c.A889G:p.M297V,ENSG00000102854:ENST00000382862:exon16:c.A1801G:p.M601V,ENSG00000102854:ENST00000566549:exon16:c.A1777G:p.M593V,ENSG00000102854:ENST00000545450:exon17:c.A1777G:p.M593V,ENSG00000102854:ENST00000563941:exon17:c.A1777G:p.M593V NA NA 16p13.3 NA Name=Egr-1 Name=3 NA rs1135210 0.33 0.33 0.322 0.353435 0.1978 0.3115 0.2968 0.6059 0.2556 0.2 0.3 0.25 0.62 0.2771 0.62 0.7 T 0.0 B 0.0 B 0.462 N 1.000 P -1.61 N 3.04 T -0.947 T 0.000 T 0.223 -1.869 0.008 -6.54 -1.745 -0.235 3.218 -1.869221 NA 1 0.2251 0.509482 ID=COSM435843,COSM435842;OCCURENCE=1(breast) 0.297 NA 10.6333334 597 11 68704028 68704028 C T exonic IGHMBP2 NA nonsynonymous SNV IGHMBP2:NM_002180:exon13:c.C2080T:p.R694W exonic ENSG00000132740 NA nonsynonymous SNV ENSG00000132740:ENST00000255078:exon13:c.C2080T:p.R694W NA NA 11q13.3 NA NA NA NA rs2236654 0.17 0.17 0.179 0.132987 0.2644 0.0208 0.1902 0.149 0.0511 0.26 0.02 0.21 0.16 0.1896 0.26 0.02 D 0.013 B 0.003 B 0.000 N 0.393 P 1.59 L -2.72 D -0.964 T 0.000 T 0.109 2.845 15.48 3.53 1.982 0.198 11.100 2.845377 2.845377 0 0.248077 0.174091 NA 0.297 NA 10.6312564 597 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=HNF4G_(SC-6558),HEY1,Pol2-4H8,TCF12,Pol2,TBP 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 597 11 1081074 1081074 T C exonic MUC2 NA nonsynonymous SNV MUC2:NM_002457:exon11:c.T1370C:p.V457A exonic ENSG00000198788 NA nonsynonymous SNV ENSG00000198788:ENST00000359061:exon11:c.T1370C:p.V457A,ENSG00000198788:ENST00000441003:exon11:c.T1370C:p.V457A Score=355;Name=lod=37 NA 11p15.5 NA NA NA NA rs41411848 0.31 0.31 0.287 0.36262 0.2207 0.372 0.366 0.4206 0.4182 0.22 0.39 0.3 0.38 0.2765 0.39 0.17 T 0.41 B 0.349 B 0.024 U 0.712 P . . -0.16 T -0.958 T 0.000 T 0.047 0.877 8.556 2.25 1.441 2.109 7.978 0.876751 NA 0.06 0.205443 0.389934 NA 0.203 NA 10.6306904 597 1 144874815 144874815 T C exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon30:c.A4793G:p.H1598R,PDE4DIP:NM_014644:exon30:c.A4793G:p.H1598R,PDE4DIP:NM_001198832:exon33:c.A4661G:p.H1554R exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon30:c.A4793G:p.H1598R,ENSG00000178104:ENST00000369356:exon30:c.A4793G:p.H1598R,ENSG00000178104:ENST00000313382:exon33:c.A4661G:p.H1554R,ENSG00000178104:ENST00000369359:exon33:c.A5201G:p.H1734R,ENSG00000178104:ENST00000530740:exon33:c.A5201G:p.H1734R NA NA 1q21.1 Score=773;Name=V$PAX5_02 NA NA NA rs1778155 NA NA 0.32 NA NA NA NA NA NA NA NA NA NA 0.404 0.3 0.15 T 0.001 B 0.006 B . . 1.000 D 0.395 N 4.33 T -0.923 T 0.003 T 0.049 1.664 11.52 -6.68 -1.172 -0.066 16.709 1.664153 1.664153 0.09 0.303771 0.202905 NA 0.275 NA 10.6255624 598 21 34883618 34883618 T C exonic GART NA nonsynonymous SNV GART:NM_000819:exon17:c.A2255G:p.D752G,GART:NM_001136005:exon17:c.A2255G:p.D752G,GART:NM_001136006:exon17:c.A2255G:p.D752G exonic ENSG00000159131 NA nonsynonymous SNV ENSG00000159131:ENST00000543717:exon7:c.A911G:p.D304G,ENSG00000159131:ENST00000381815:exon17:c.A2255G:p.D752G,ENSG00000159131:ENST00000381831:exon17:c.A2255G:p.D752G,ENSG00000159131:ENST00000381839:exon17:c.A2255G:p.D752G Score=259;Name=lod=15 NA 21q22.11 NA Name=GATA-1 NA NA rs8971 0.17 0.17 0.143 0.152157 0.2694 0.1647 0.2262 0.0166 0.1493 0.25 0.15 0.25 0.02 0.2093 0.25 0.37 T 0.04 B 0.102 B 0.001 N 0.000 P 1.63 L 2.29 T -0.974 T 0.000 T 0.321 2.291 13.62 4.42 0.929 5.737 12.680 2.290807 2.290807 0.35 0.231744 0.060145 NA 0.072 NA 10.6228894 598 5 141244356 141244356 C T exonic PCDH1 NA nonsynonymous SNV PCDH1:NM_002587:exon3:c.G1540A:p.A514T,PCDH1:NM_032420:exon3:c.G1540A:p.A514T exonic ENSG00000156453 NA nonsynonymous SNV ENSG00000156453:ENST00000287008:exon3:c.G1540A:p.A514T,ENSG00000156453:ENST00000357517:exon3:c.G1573A:p.A525T,ENSG00000156453:ENST00000394536:exon3:c.G1540A:p.A514T,ENSG00000156453:ENST00000536585:exon3:c.G1474A:p.A492T,ENSG00000156453:ENST00000456271:exon4:c.G1504A:p.A502T Score=483;Name=lod=122 NA 5q31.3 NA NA NA NA rs3822357 0.09 0.09 0.082 0.0880591 0.0656 0.1379 0.147 0.025 0.1033 0.06 0.17 0.13 0.02 0.0867 0.17 0.39 T 0.938 P 0.325 B 0.003 N 0.000 P -0.3 N 4.03 T -1.075 T 0.000 T 0.039 1.843 12.12 3.87 0.696 1.269 9.532 1.843432 1.843432 0.12 0.060581 0.03586 NA 0.101 NA 10.6204524 598 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=Type 1 diabetes autoantibodies,Type 1 diabetes,Immunoglobulin A 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 599 14 50778816 50778816 A C exonic L2HGDH NA nonsynonymous SNV L2HGDH:NM_024884:exon1:c.T53G:p.L18R exonic ENSG00000087299 NA nonsynonymous SNV ENSG00000087299:ENST00000261699:exon1:c.T53G:p.L18R,ENSG00000087299:ENST00000267436:exon1:c.T53G:p.L18R,ENSG00000087299:ENST00000421284:exon1:c.T53G:p.L18R,ENSG00000087299:ENST00000554191:exon1:c.T53G:p.L18R,ENSG00000087299:ENST00000555423:exon1:c.T53G:p.L18R,ENSG00000087299:ENST00000555610:exon1:c.T53G:p.L18R NA NA 14q21.3 NA Name=HEY1,EBF1_(C-8),Pol2-4H8,TAF1,CTCF,Ini1,HA-E2F1,Pol2,ZNF263,AP-2alpha,CCNT2,TBP,AP-2gamma Name=42 NA rs2275591 0.57 0.57 0.517 0.572684 0.5596 0.6171 0.5865 0.5696 0.5348 0.56 0.6 0.56 0.54 0.5999 0.6 0.68 T 0.022 B 0.01 B 0.458 N 1.000 P 0 N -2.16 D -1.030 T 0.000 T 0.127 0.762 8.033 -2.22 -0.779 -4.010 3.870 0.762257 NA 0.59 0.563259 0.563042 ID=COSM433105;OCCURENCE=1(breast) 0.435 NA 10.6105744 599 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 599 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 599 19 10446568 10446568 T C exonic ICAM3 NA nonsynonymous SNV ICAM3:NM_002162:exon3:c.A428G:p.D143G exonic ENSG00000076662 NA nonsynonymous SNV ENSG00000076662:ENST00000160262:exon3:c.A428G:p.D143G,ENSG00000076662:ENST00000589261:exon3:c.A197G:p.D66G,ENSG00000076662:ENST00000590569:exon4:c.A395G:p.D132G NA NA 19p13.2 NA Name=CTCF Name=3 NA rs2304237 0.18 0.18 0.148 0.179513 0.2336 0.1131 0.1744 0.1407 0.2485 0.24 0.12 0.19 0.12 0.27 0.24 1 T 0.0 B 0.0 B 0.003 N 1.000 P -2.72 N 3.71 T -0.977 T 0.000 T 0.081 -0.177 3.139 4.98 1.249 0.596 9.930 -0.176746 NA 1 0.221304 0.163789 NA 0.333 NA 10.6084294 599 4 1701317 1701317 G A exonic SLBP NA synonymous SNV SLBP:NM_006527:exon5:c.C453T:p.Y151Y exonic ENSG00000163950 NA synonymous SNV ENSG00000163950:ENST00000429429:exon4:c.C336T:p.Y112Y,ENSG00000163950:ENST00000488267:exon4:c.C348T:p.Y116Y,ENSG00000163950:ENST00000318386:exon5:c.C474T:p.Y158Y,ENSG00000163950:ENST00000489418:exon5:c.C453T:p.Y151Y Score=589;Name=lod=330 Name=Height 4p16.3 NA NA Name=2 NA rs2247341 0.39 0.39 0.384 0.389577 0.332 0.6935 0.366 0.1263 0.5082 0.35 0.69 0.36 0.13 0.3847 0.69 . . . . . . . . 0.000 P . . . . -1.065 T 0.000 T . 1.257 10.1 -6.91 -0.982 -0.109 15.263 1.25705 1.25705 NA 0.343372 0.180436 NA 0.312 NA 10.6065946 599 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=Crohn's disease,Leprosy 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 599 3 17053613 17053613 C T exonic PLCL2 NA synonymous SNV PLCL2:NM_015184:exon2:c.C2397T:p.P799P exonic ENSG00000154822 NA synonymous SNV ENSG00000154822:ENST00000396755:exon2:c.C2397T:p.P799P,ENSG00000154822:ENST00000418129:exon2:c.C2397T:p.P799P,ENSG00000154822:ENST00000432376:exon2:c.C2397T:p.P799P Score=503;Name=lod=147 NA 3p24.3 Score=707;Name=V$HOX13_01 NA NA NA rs61751588 0.01 0.01 0.009 0.00678914 0.0258 NA 0.0043 0.0008 0.0041 0.03 NA 0.01 NA 0.0146 0.03 0.68 T . . . . 0.000 D 1.000 D . . 2.1 T -1.056 T 0.012 T . 1.048 9.281 -0.419 0.255 -0.009 9.175 1.048206 NA NA 0.020354 0.004312 NA NA NA 10.6059126 600 2 44028013 44028013 A T exonic DYNC2LI1 NA nonsynonymous SNV DYNC2LI1:NM_001193464:exon9:c.A691T:p.I231L,DYNC2LI1:NM_016008:exon9:c.A688T:p.I230L exonic ENSG00000138036 NA nonsynonymous SNV ENSG00000138036:ENST00000443170:exon8:c.A310T:p.I104L,ENSG00000138036:ENST00000260605:exon9:c.A688T:p.I230L,ENSG00000138036:ENST00000605786:exon9:c.A691T:p.I231L Score=582;Name=lod=308 NA 2p21 NA NA NA NA rs11556157 0.2 0.2 0.178 0.235024 0.2386 0.0258 0.1844 0.3427 0.3374 0.23 0.03 0.22 0.33 0.2457 0.33 1 T 0.001 B 0.002 B 0.002 N 0.000 P -0.235 N 3.46 T -0.893 T 0.000 T 0.287 0.731 7.886 3.94 0.952 2.364 8.725 0.731358 NA 0.98 0.244243 0.322969 NA 0.283 NA 10.6047904 600 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 600 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 600 12 120146026 120146026 A T exonic CIT NA synonymous SNV CIT:NM_007174:exon39:c.T5043A:p.I1681I,CIT:NM_001206999:exon40:c.T5169A:p.I1723I exonic ENSG00000122966 NA synonymous SNV ENSG00000122966:ENST00000261833:exon39:c.T5043A:p.I1681I,ENSG00000122966:ENST00000392521:exon40:c.T5169A:p.I1723I Score=540;Name=lod=209 NA 12q24.23 NA NA NA NA rs56167781 0.01 0.01 0.011 0.00579073 0.0219 NA 0.0043 0.0015 0.002 0.03 NA 0.01 0.01 0.0152 0.03 . . . . . . . . 1.000 D . . . . -0.765 T 0.072 T . 0.934 8.806 -7.84 -1.331 0.212 12.275 0.934048 NA NA 0.029302 0.007263 NA NA NA 10.6002646 600 17 54534634 54534634 G A exonic ANKFN1 NA nonsynonymous SNV ANKFN1:NM_153228:exon12:c.G1333A:p.V445I exonic ENSG00000153930 NA nonsynonymous SNV ENSG00000153930:ENST00000318698:exon12:c.G1333A:p.V445I,ENSG00000153930:ENST00000566473:exon12:c.G1333A:p.V445I Score=592;Name=lod=339 NA 17q22 Score=778;Name=V$MEF2_02 NA NA NA rs10852985 0.79 0.79 0.774 0.751597 0.7684 0.9732 0.8098 0.6029 0.6656 0.76 0.97 0.8 0.63 0.743 0.97 0.01 D 0.659 P 0.076 B 0.007 N 0.988 P 1.78 L 1.48 T -1.039 T 0.000 T 0.202 2.149 13.14 4.06 0.871 4.130 13.099 2.149307 2.149307 0.1 0.72429 0.640717 NA 0.848 NA 10.5976434 600 X 45051111 45051111 C T exonic CXorf36 NA nonsynonymous SNV CXorf36:NM_024689:exon2:c.G383A:p.R128K,CXorf36:NM_176819:exon2:c.G383A:p.R128K exonic ENSG00000147113 NA nonsynonymous SNV ENSG00000147113:ENST00000377934:exon2:c.G383A:p.R128K,ENSG00000147113:ENST00000398000:exon2:c.G383A:p.R128K Score=401;Name=lod=57 NA Xp11.3 NA NA Name=2 NA rs1132201 0.43 0.43 0.407 NA NA NA NA NA NA 0.33 0.77 0.46 0.19 0.4112 0.77 0.76 T 0.041 B 0.011 B 0.002 N 0.983 P 0.785 N 1.62 T -0.954 T 0.000 T 0.081 2.102 12.98 2.92 0.553 1.172 8.581 2.101528 2.101528 0.64 0.324762 0.201825 NA 0.254 NA 10.5973714 600 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 600 17 7760704 7760704 A G exonic LSMD1 NA nonsynonymous SNV LSMD1:NM_032356:exon1:c.T38C:p.L13P exonic ENSG00000183011 NA nonsynonymous SNV ENSG00000183011:ENST00000333775:exon1:c.T38C:p.L13P Score=567;Name=lod=269 NA 17p13.1 NA Name=YY1_(C-20),ZBTB33,Oct-2,SIX5,ERalpha_a,PAX5-C20,PAX5-N19,AP-2gamma,CtBP2,YY1,ZBTB7A_(SC-34508),Pol2,HA-E2F1,CHD2_(N-1250),POU2F2,TAF1,HMGN3,ZEB1_(SC-25388),Znf143_(16618-1-AP),NFKB,Pol2-4H8,ELF1_(SC-631),STAT1,HEY1,ETS1 Name=146 NA rs8522 0.4 0.4 0.357 0.436302 0.1948 0.7956 0.3905 0.388 0.4121 0.18 0.81 0.35 0.3 0.3241 0.81 0.64 T 0.0 B 0.0 B 0.030 N 0.000 P . . 0.46 T -0.992 T 0.000 T 0.024 -0.741 0.844 -5.02 -0.670 -0.339 3.836 -0.740751 NA 0.2 0.218837 0.350431 NA 0.312 NA 10.5955964 600 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 601 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 601 17 7606722 7606722 C G exonic WRAP53 NA nonsynonymous SNV WRAP53:NM_018081:exon10:c.C1565G:p.A522G,WRAP53:NM_001143990:exon11:c.C1565G:p.A522G,WRAP53:NM_001143991:exon11:c.C1565G:p.A522G,WRAP53:NM_001143992:exon11:c.C1565G:p.A522G exonic ENSG00000141499 NA nonsynonymous SNV ENSG00000141499:ENST00000534050:exon9:c.C1466G:p.A489G,ENSG00000141499:ENST00000316024:exon10:c.C1565G:p.A522G,ENSG00000141499:ENST00000396463:exon11:c.C1565G:p.A522G,ENSG00000141499:ENST00000431639:exon11:c.C1565G:p.A522G,ENSG00000141499:ENST00000457584:exon11:c.C1565G:p.A522G NA NA 17p13.1 Score=884;Name=V$MZF1_02 NA NA NA rs7640 0.43 0.43 0.416 0.511182 0.2336 0.4077 0.3069 0.9327 0.4785 0.23 0.38 0.27 0.91 0.3123 0.91 1 T 0.0 B 0.0 B 0.886 N 1.000 P -0.885 N 0.76 T -0.993 T 0.000 T 0.093 -1.279 0.042 -6.63 -1.379 -1.904 8.558 -1.279172 NA 0.9 0.194767 0.787562 ID=COSM148183;OCCURENCE=1(stomach) 0.377 NA 10.5926664 601 17 18221010 18221010 A G exonic SMCR8 NA nonsynonymous SNV SMCR8:NM_144775:exon1:c.A1907G:p.N636S exonic ENSG00000176994 NA nonsynonymous SNV ENSG00000176994:ENST00000406438:exon1:c.A1907G:p.N636S NA NA 17p11.2 NA Name=CTCF NA NA rs12449313 0.24 0.24 0.231 0.214657 0.2425 0.3185 0.2421 0.1452 0.1534 0.25 0.29 0.24 0.16 0.2438 0.29 0.6 T 0.0 B 0.0 B 0.486 N 1.000 P 0 N 1.15 T -0.997 T 0.000 T 0.022 -2.101 0.006 -7.65 -2.092 -1.038 20.899 -2.101022 NA 0 0.255465 0.155016 NA 0.232 NA 10.5915684 601 17 74475024 74475024 G A exonic RHBDF2 NA nonsynonymous SNV RHBDF2:NM_001005498:exon5:c.C536T:p.P179L,RHBDF2:NM_024599:exon6:c.C623T:p.P208L exonic ENSG00000129667 NA nonsynonymous SNV ENSG00000129667:ENST00000313080:exon6:c.C623T:p.P208L,ENSG00000129667:ENST00000389760:exon6:c.C536T:p.P179L,ENSG00000129667:ENST00000591885:exon6:c.C536T:p.P179L Score=432;Name=lod=76 NA 17q25.1 Score=797;Name=V$PAX5_02 NA NA NA rs3744045 0.8 0.8 0.755 0.765176 0.9245 0.9226 0.8646 0.4221 0.8323 0.92 0.9 0.87 0.43 0.8787 0.94 0.11 T 0.375 B 0.141 B 0.000 N 0.000 P 1.935 M -0.18 T -1.042 T 0.000 T 0.099 2.064 12.86 4.57 1.328 6.857 14.248 2.063869 2.063869 0.27 0.938953 0.514753 ID=COSM437441;OCCURENCE=1(breast) 0.732 NA 10.5911804 601 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 601 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 601 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 602 5 52096889 52096889 C A exonic PELO NA nonsynonymous SNV PELO:NM_015946:exon2:c.C661A:p.L221M exonic ENSG00000152684 NA nonsynonymous SNV ENSG00000152684:ENST00000274311:exon2:c.C661A:p.L221M Score=553;Name=lod=235 NA 5q11.2 NA Name=CTCF,USF2,TCF4 Name=141 NA rs1499280 0.9 0.9 0.913 0.899361 0.9264 0.8472 0.8977 0.9054 0.9182 0.92 0.84 0.91 0.91 0.9074 0.92 0.82 T 0.09 B 0.136 B 0.001 N 0.000 P -0.595 N 0.73 T -0.983 T 0.000 T 0.065 -0.434 1.982 5.25 1.023 2.870 11.210 -0.433787 NA 1 0.915349 0.8931 NA 0.92 NA 10.5841844 602 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 602 2 191064753 191064753 C T exonic C2orf88 NA nonsynonymous SNV C2orf88:NM_001042519:exon2:c.C167T:p.T56I,C2orf88:NM_001042520:exon2:c.C167T:p.T56I,C2orf88:NM_032321:exon2:c.C167T:p.T56I,C2orf88:NM_001042521:exon3:c.C167T:p.T56I exonic ENSG00000187699 NA nonsynonymous SNV ENSG00000187699:ENST00000340623:exon2:c.C167T:p.T56I,ENSG00000187699:ENST00000409545:exon2:c.C167T:p.T56I,ENSG00000187699:ENST00000409870:exon2:c.C167T:p.T56I,ENSG00000187699:ENST00000443551:exon2:c.C167T:p.T56I,ENSG00000187699:ENST00000396974:exon3:c.C167T:p.T56I NA NA 2q32.2 NA Name=PU.1 NA NA rs6753459 0.37 0.37 0.396 0.353634 0.2435 0.4355 0.2752 0.5008 0.2393 0.24 0.48 0.28 0.5 0.2706 0.5 . . 0.0 B 0.001 B 0.971 N 1.000 P . . 0.86 T -0.910 T 0.000 T 0.343 0.378 6.053 -3.0 -0.951 -1.449 8.761 0.378138 NA 0.28 0.237178 0.446943 NA 0.283 NA 10.5820554 602 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 602 20 43926573 43926573 C T exonic MATN4 NA nonsynonymous SNV MATN4:NM_030592:exon6:c.G1318A:p.G440S,MATN4:NM_030590:exon7:c.G1441A:p.G481S,MATN4:NM_003833:exon8:c.G1564A:p.G522S exonic ENSG00000124159 NA nonsynonymous SNV ENSG00000124159:ENST00000353917:exon6:c.G1318A:p.G440S,ENSG00000124159:ENST00000360607:exon7:c.G1441A:p.G481S,ENSG00000124159:ENST00000372753:exon7:c.G1117A:p.G373S,ENSG00000124159:ENST00000372756:exon7:c.G1564A:p.G522S,ENSG00000124159:ENST00000342716:exon8:c.G1564A:p.G522S,ENSG00000124159:ENST00000372751:exon8:c.G1117A:p.G373S,ENSG00000124159:ENST00000372754:exon8:c.G1687A:p.G563S,ENSG00000124159:ENST00000537548:exon9:c.G1564A:p.G522S Score=562;Name=lod=256 NA 20q13.12 NA NA NA NA rs2227275 0.25 0.25 0.264 0.21865 0.2773 0.1121 0.3415 0.261 0.1237 0.28 0.14 0.31 0.28 0.23 0.31 0.66 T 0.046 B 0.047 B 0.013 N 0.424 P 0.14 N -1.06 T -1.118 T 0.000 T 0.176 1.53 11.07 4.64 2.661 1.529 13.078 1.530132 1.530132 0.72 0.247209 0.254426 NA 0.312 NA 10.5788244 602 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 602 3 38768300 38768300 T C exonic SCN10A NA nonsynonymous SNV SCN10A:NM_006514:exon16:c.A2884G:p.I962V exonic ENSG00000185313 NA nonsynonymous SNV ENSG00000185313:ENST00000449082:exon16:c.A2884G:p.I962V NA NA 3p22.2 Score=1000;Name=V$AML1_01 NA NA NA rs57326399 0.23 0.23 0.209 0.210663 0.2545 0.373 0.1153 0.0862 0.2342 0.25 0.4 0.13 0.07 0.2409 0.4 0.09 T 0.437 B 0.17 B 0.000 N 1.000 P 0.345 N -1.77 D -1.095 T 0.000 T 0.05 1.245 10.05 -4.17 -0.612 0.052 6.362 1.245153 1.245153 NA 0.261977 0.109396 ID=COSM1131456;OCCURENCE=1(prostate) 0.152 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081421.1;CLNDSDB=.;CLNDSDBID=. 10.5759564 602 17 3324810 3324810 A G exonic OR3A3 NA nonsynonymous SNV OR3A3:NM_012373:exon1:c.A949G:p.K317E exonic ENSG00000159961 NA nonsynonymous SNV ENSG00000159961:ENST00000291231:exon1:c.A949G:p.K317E NA NA 17p13.2 NA NA NA NA rs227787 0.3 0.3 0.266 0.34405 0.2445 0.3819 0.4121 0.2337 0.5082 0.23 0.39 0.35 0.25 0.2905 0.39 0.04 D 0.005 B 0.01 B . . 1.000 P 0.725 N 1.08 T -0.956 T 0.000 T 0.085 1.147 9.673 2.01 1.387 1.921 4.398 1.147227 NA NA 0.222674 0.243078 NA 0.283 NA 10.5756594 602 1 248112809 248112809 A G exonic OR2L8 NA nonsynonymous SNV OR2L8:NM_001001963:exon1:c.A650G:p.Y217C exonic ENSG00000196936 NA nonsynonymous SNV ENSG00000196936:ENST00000357191:exon1:c.A650G:p.Y217C Score=235;Name=lod=12 NA 1q44 NA NA NA NA rs4925583 0.78 0.78 0.689 0.75599 0.9513 0.8829 0.9251 0.2753 0.954 0.96 0.86 0.94 0.28 0.8623 0.96 0.01 D 1.0 D 1.0 D 0.013 U 0.000 P 3.76 H 6.85 T -0.903 T 0.000 T 0.224 1.107 9.516 1.8 0.837 6.755 8.414 1.106945 NA 0.02 0.944651 0.380844 NA 0.623 NA 10.5750824 603 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=CEBPB,Pol2-4H8,Pol2 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 603 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 603 11 5373104 5373104 A G exonic OR51B6 NA nonsynonymous SNV OR51B6:NM_001004750:exon1:c.A367G:p.T123A exonic ENSG00000176239 NA nonsynonymous SNV ENSG00000176239:ENST00000380219:exon1:c.A367G:p.T123A Score=491;Name=lod=132 NA 11p15.4 NA NA NA NA rs5006889 0.22 0.22 0.172 0.233626 0.2644 0.0863 0.2349 0.326 0.228 0.25 0.05 0.25 0.32 0.237 0.32 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.785 N 1.84 T -0.938 T 0.000 T 0.094 -1.478 0.018 5.01 1.352 5.415 12.538 -1.478016 NA 1 0.260414 0.28328 NA 0.239 NA 10.5715194 603 10 43678796 43678796 C T exonic CSGALNACT2 NA nonsynonymous SNV CSGALNACT2:NM_018590:exon8:c.C1435T:p.P479S exonic ENSG00000169826 NA nonsynonymous SNV ENSG00000169826:ENST00000374466:exon8:c.C1435T:p.P479S Score=557;Name=lod=244 NA 10q11.21 NA NA NA NA rs2435381 0.18 0.18 0.158 0.158546 0.2644 0.1974 0.1945 0.0204 0.1708 0.25 0.2 0.22 0.03 0.2317 0.27 0.16 T 0.128 B 0.084 B 0.000 N 0.000 P 1.225 L 1.63 T -1.019 T 0.000 T 0.073 2.324 13.73 5.87 2.941 2.883 20.583 2.324034 2.324034 0.27 0.266628 0.069451 NA 0.239 NA 10.5706054 603 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 603 9 134401335 134401335 C T exonic UCK1 NA nonsynonymous SNV UCK1:NM_001135954:exon5:c.G538A:p.A180T exonic ENSG00000130717 NA nonsynonymous SNV ENSG00000130717:ENST00000372208:exon5:c.G538A:p.A180T Score=536;Name=lod=201 NA 9q34.13 Score=819;Name=V$SREBP1_02 NA NA NA rs2296957 0.82 0.82 0.801 0.811901 0.9215 0.9236 0.8127 0.5227 0.9744 0.94 0.92 0.85 0.52 0.8944 0.95 0 D 0.104 B 0.014 B . . 0.000 P . . . . -1.001 T 0.000 T . 1.785 11.93 -5.08 -1.075 -1.779 8.437 1.785333 1.785333 0 0.949302 0.598048 NA 0.804 NA 10.5681314 603 12 57870155 57870155 A C exonic ARHGAP9 NA nonsynonymous SNV ARHGAP9:NM_001080156:exon6:c.T556G:p.S186A,ARHGAP9:NM_001080157:exon7:c.T1108G:p.S370A,ARHGAP9:NM_032496:exon8:c.T1108G:p.S370A exonic ENSG00000123329 NA nonsynonymous SNV ENSG00000123329:ENST00000430041:exon6:c.T556G:p.S186A,ENSG00000123329:ENST00000548139:exon6:c.T556G:p.S186A,ENSG00000123329:ENST00000424809:exon7:c.T1108G:p.S370A,ENSG00000123329:ENST00000356411:exon8:c.T1108G:p.S370A,ENSG00000123329:ENST00000393791:exon8:c.T1108G:p.S370A,ENSG00000123329:ENST00000393797:exon11:c.T1321G:p.S441A,ENSG00000123329:ENST00000550288:exon11:c.T1345G:p.S449A NA NA 12q13.3 Score=774;Name=V$AHR_01 Name=CTCF_(C-20),CTCF_(SC-5916),EBF1_(C-8),CTCF,Pol2,Egr-1,TBP Name=15 NA rs11544238 0.42 0.42 0.424 0.370208 0.6243 0.3254 0.3919 0.1271 0.4683 0.62 0.35 0.43 0.16 0.5086 0.64 0.18 T 0.0 B 0.002 B 0.248 N 0.785 P 0.69 N 3.09 T -0.948 T 0.000 T 0.459 1.861 12.18 -3.35 -0.392 -0.078 2.205 1.86085 1.86085 0.2 0.635233 0.204721 NA 0.399 CLINSIG=unknown;CLNDBN=Coronary_artery_spasm_3\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000001248.4;CLNDSDB=.;CLNDSDBID=. 10.5652004 604 4 126239986 126239986 C T exonic FAT4 NA nonsynonymous SNV FAT4:NM_024582:exon1:c.C2420T:p.A807V exonic ENSG00000196159 NA nonsynonymous SNV ENSG00000196159:ENST00000394329:exon1:c.C2420T:p.A807V Score=557;Name=lod=245 NA 4q28.1 NA NA NA NA rs1039808 0.41 0.41 0.436 0.424121 0.4205 0.2252 0.4092 0.6142 0.3865 0.42 0.22 0.41 0.63 0.4222 0.63 0.09 T 0.575 P 0.253 B 0.004 U 0.000 P 1.175 L 4.63 T -1.062 T 0.000 T 0.09 2.256 13.5 5.13 2.396 3.596 18.603 2.255592 2.255592 0.14 0.426284 0.542243 NA 0.493 NA 10.5643494 604 3 44775962 44775962 A G exonic ZNF501 NA nonsynonymous SNV ZNF501:NM_001258280:exon3:c.A49G:p.M17V,ZNF501:NM_145044:exon3:c.A49G:p.M17V exonic ENSG00000186446 NA nonsynonymous SNV ENSG00000186446:ENST00000396048:exon3:c.A49G:p.M17V Score=333;Name=lod=30 NA 3p21.31 NA NA NA NA rs4682752 0.69 0.69 0.67 0.695288 0.5954 0.881 0.6643 0.6112 0.7423 0.6 0.9 0.68 0.59 0.6203 0.9 0.01 D 0.0 B 0.0 B . . 0.917 P 1.095 L 1.14 T -1.003 T 0.000 T 0.097 2.082 12.92 2.39 1.351 1.006 9.991 2.082127 2.082127 0.02 0.555556 0.633221 NA 0.703 NA 10.5620774 604 11 18633897 18633897 T C exonic SPTY2D1 NA nonsynonymous SNV SPTY2D1:NM_194285:exon4:c.A1850G:p.K617R exonic ENSG00000179119 NA nonsynonymous SNV ENSG00000179119:ENST00000336349:exon4:c.A1850G:p.K617R Score=567;Name=lod=268 NA 11p15.1 NA NA NA NA rs35411689 0.11 0.11 0.11 0.102636 0.0974 0.2232 0.0605 0.0091 0.1401 0.11 0.24 0.06 0.02 0.0938 0.24 0.31 T 0.465 P 0.166 B 0.000 N 0.001 P 1.38 L 0.84 T -1.042 T 0.000 T 0.054 2.797 15.32 3.67 0.514 2.257 10.296 2.797273 2.797273 0 0.083159 0.021373 ID=COSM147159;OCCURENCE=1(stomach) 0.058 NA 10.5589744 604 10 131959150 131959150 C T exonic GLRX3 NA nonsynonymous SNV GLRX3:NM_001199868:exon4:c.C367T:p.P123S,GLRX3:NM_006541:exon4:c.C367T:p.P123S exonic ENSG00000108010 NA nonsynonymous SNV ENSG00000108010:ENST00000331244:exon4:c.C367T:p.P123S,ENSG00000108010:ENST00000368644:exon4:c.C367T:p.P123S,ENSG00000108010:ENST00000481034:exon4:c.C367T:p.P123S NA NA 10q26.3 NA Name=CTCF,NFKB,CTCF_(C-20),Rad21 Name=20 NA rs2274217 0.18 0.18 0.14 0.191094 0.2853 0.1101 0.1282 0.1241 0.3129 0.28 0.1 0.15 0.13 0.2285 0.28 0.77 T 0.0 B 0.0 B 0.026 N 1.000 P 0 N 3.08 T -0.927 T 0.000 T 0.067 -0.389 2.176 4.39 2.284 0.666 10.995 -0.388811 NA 0.86 0.26093 0.13527 ID=COSM1346807,COSM1346808;OCCURENCE=1(large_intestine) 0.21 NA 10.5586034 604 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 604 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$PAX5_02 NA NA NA rs3732678 0.57 0.57 0.609 0.572284 0.6382 0.2897 0.4755 0.9713 0.3252 0.62 0.26 0.46 0.94 0.542 0.94 0.29 T 0.0 B 0.0 B 0.204 N 0.000 P -0.805 N -0.11 T -0.992 T 0.000 T 0.039 0.478 6.595 3.88 1.150 2.850 10.525 0.478073 NA 0.4 0.596667 0.905637 NA 0.659 NA 10.5564664 604 14 97321689 97321689 C T exonic VRK1 NA synonymous SNV VRK1:NM_003384:exon8:c.C705T:p.G235G exonic ENSG00000100749 NA synonymous SNV ENSG00000100749:ENST00000216639:exon8:c.C705T:p.G235G Score=551;Name=lod=232 NA 14q32.2 Score=810;Name=V$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 604 14 88651962 88651962 C T exonic KCNK10 NA nonsynonymous SNV KCNK10:NM_021161:exon7:c.G1534A:p.A512T,KCNK10:NM_138317:exon7:c.G1549A:p.A517T,KCNK10:NM_138318:exon7:c.G1549A:p.A517T exonic ENSG00000100433 NA nonsynonymous SNV ENSG00000100433:ENST00000312350:exon7:c.G1549A:p.A517T,ENSG00000100433:ENST00000319231:exon7:c.G1549A:p.A517T,ENSG00000100433:ENST00000340700:exon7:c.G1534A:p.A512T NA NA 14q31.3 NA NA NA NA rs17762463 0.14 0.14 0.135 0.102236 0.2942 0.0089 0.1412 0.0151 0.091 0.3 0.02 0.17 0.02 0.2068 0.3 0.03 D 0.043 B 0.01 B 0.150 N 1.000 P 0.69 N -2.75 D -1.042 T 0.000 T 0.158 0.551 6.98 3.49 0.657 2.380 12.417 0.550869 NA 0.02 0.276977 0.064685 NA 0.138 NA 10.5553564 605 14 21250124 21250124 G A exonic RNASE6 NA nonsynonymous SNV RNASE6:NM_005615:exon2:c.G266A:p.R89Q exonic ENSG00000169413 NA nonsynonymous SNV ENSG00000169413:ENST00000304677:exon2:c.G266A:p.R89Q NA NA 14q11.2 NA NA Name=7 NA rs1045922 0.26 0.26 0.243 0.304912 0.2485 0.4286 0.2983 0.1089 0.5051 0.24 0.4 0.27 0.11 0.2805 0.4 0.63 T 0.012 B 0.003 B 0.108 N 1.000 P 0.895 L -0.66 T -1.030 T 0.000 T 0.006 -0.263 2.735 -9.94 -3.814 -2.580 14.249 -0.263495 NA 0.41 0.249419 0.133 NA 0.261 NA 10.5549144 605 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$RFX1_01 Name=NRSF,CTCF NA NA rs4916589 0.65 0.65 0.674 0.632188 0.6034 0.7659 0.5692 0.6815 0.502 0.6 0.8 0.54 0.64 0.5911 0.8 0.61 T 0.0 B 0.0 B 0.103 N 0.002 P -1.65 N 0.04 T -0.954 T 0.000 T 0.046 -1.085 0.158 3.4 0.923 1.385 1.287 -1.08454 NA NA 0.584478 0.652973 NA 0.529 NA 10.5543554 605 6 49403282 49403282 T C exonic MUT NA nonsynonymous SNV MUT:NM_000255:exon12:c.A2011G:p.I671V exonic ENSG00000146085 NA nonsynonymous SNV ENSG00000146085:ENST00000274813:exon12:c.A2011G:p.I671V Score=472;Name=lod=111 NA 6p12.3 NA NA NA NA rs8589 0.52 0.52 0.521 0.549521 0.5875 0.4573 0.3876 0.5832 0.6748 0.62 0.41 0.42 0.58 0.5768 0.62 1 T 0.0 B 0.012 B 0.000 N 1.000 P -0.875 N -4.02 D -0.720 T 0.372 T 0.037 -0.132 3.355 4.92 0.811 3.829 12.107 -0.131658 NA 1 0.616744 0.587835 NA 0.493 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078444.1;CLNDSDB=.;CLNDSDBID=. 10.5522894 605 8 86351997 86351997 G A exonic CA3 NA nonsynonymous SNV CA3:NM_005181:exon2:c.G91A:p.V31I exonic ENSG00000164879 NA nonsynonymous SNV ENSG00000164879:ENST00000285381:exon2:c.G91A:p.V31I Score=445;Name=lod=86 NA 8q21.2 Score=847;Name=V$HAND1E47_01 NA NA NA rs20571 0.49 0.49 0.45 0.439497 0.6282 0.4474 0.5159 0.2837 0.3937 0.62 0.47 0.51 0.29 0.5481 0.62 1 T 0.0 B 0.0 B 0.000 N 0.981 P -1.53 N 2.01 T -0.941 T 0.000 T 0.079 0.347 5.881 4.66 1.032 4.497 11.040 0.346611 NA 1 0.607442 0.332274 NA 0.442 NA 10.5495914 605 2 169830328 169830328 A G exonic ABCB11 NA nonsynonymous SNV ABCB11:NM_003742:exon13:c.T1331C:p.V444A exonic ENSG00000073734 NA nonsynonymous SNV ENSG00000073734:ENST00000263817:exon13:c.T1331C:p.V444A Score=626;Name=lod=467 NA 2q31.1 NA NA NA NA rs2287622 0.59 0.59 0.637 0.588658 0.6044 0.6984 0.4524 0.5537 0.6033 0.59 0.7 0.5 0.54 0.5794 0.7 0.34 T 0.001 B 0.003 B 0.061 N 0.076 P -0.5 N -3.2 D -0.896 T 0.000 T 0.08 2.02 12.71 4.62 1.114 2.033 11.852 2.019565 2.019565 0.16 0.600365 0.585691 NA 0.659 NA 10.5491684 605 9 136270538 136270538 T G exonic C9orf96 NA nonsynonymous SNV C9orf96:NM_153710:exon18:c.T2036G:p.L679R exonic ENSG00000198870 NA nonsynonymous SNV ENSG00000198870:ENST00000371955:exon16:c.T635G:p.L212R,ENSG00000198870:ENST00000371957:exon18:c.T2036G:p.L679R NA NA 9q34.2 NA NA NA NA rs41302673 0.05 0.05 0.046 0.0373403 0.1014 NA 0.0677 0.0023 0.0358 0.1 NA 0.07 0.01 0.0843 0.1 0 D 0.718 P 0.154 B 0.003 U 1.000 N 0 N 0.56 T -1.010 T 0.005 T 0.157 1.435 10.74 -5.58 -0.816 -1.438 5.857 1.435227 1.435227 0 0.098953 0.015433 ID=COSM1489771;OCCURENCE=1(breast) 0.043 NA 10.5486804 605 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$TCF11_01 Name=Pol2-4H8 Name=77 NA rs6967117 0.95 0.95 0.945 0.960264 0.9245 1 0.9798 0.9198 0.9969 0.91 1 0.98 0.93 0.9366 1 1 T 0.0 B 0.0 B 0.017 N 1.000 P -1.955 N 0.14 T -0.961 T 0.000 T 0.056 -1.962 0.007 3.78 0.704 1.959 8.653 -1.962456 NA 1 0.926047 0.916704 NA 0.913 NA 10.5461864 606 2 170053505 170053505 C T exonic LRP2 NA nonsynonymous SNV LRP2:NM_004525:exon46:c.G8614A:p.A2872T exonic ENSG00000081479 NA nonsynonymous SNV ENSG00000081479:ENST00000263816:exon46:c.G8614A:p.A2872T NA NA 2q31.1 NA NA NA NA rs2228171 0.32 0.32 0.334 0.267971 0.2594 0.5268 0.196 0.1974 0.1564 0.28 0.55 0.2 0.22 0.2677 0.55 0.64 T 0.0 B 0.0 B 0.177 N 1.000 P -0.15 N -3.77 D -0.933 T 0.000 T 0.013 0.905 8.682 -10.7 -3.062 -2.346 3.939 0.905469 NA 1 0.262907 0.194054 NA 0.174 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117550.2;CLNDSDB=.;CLNDSDBID=. 10.5433264 606 5 55407542 55407542 C T exonic ANKRD55 NA nonsynonymous SNV ANKRD55:NM_024669:exon10:c.G1033A:p.V345M exonic ENSG00000164512 NA nonsynonymous SNV ENSG00000164512:ENST00000434982:exon2:c.G169A:p.V57M,ENSG00000164512:ENST00000504958:exon8:c.G904A:p.V302M,ENSG00000164512:ENST00000341048:exon10:c.G1033A:p.V345M Score=495;Name=lod=137 NA 5q11.2 NA Name=JunD NA NA rs321776 0.22 0.22 0.205 0.207867 0.2803 0.2927 0.1254 0.0658 0.2965 0.28 0.31 0.17 0.06 0.243 0.31 0.35 T 0.003 B 0.001 B 0.000 N 0.007 P -0.345 N 1.57 T -0.942 T 0.000 T 0.068 -1.993 0.007 -3.45 -1.167 -0.316 13.739 -1.993416 NA 1 0.268953 0.09714 NA 0.116 NA 10.5410804 606 18 43206985 43206985 A G exonic SLC14A2 NA nonsynonymous SNV SLC14A2:NM_007163:exon4:c.A394G:p.I132V,SLC14A2:NM_001242692:exon5:c.A394G:p.I132V exonic ENSG00000132874 NA nonsynonymous SNV ENSG00000132874:ENST00000255226:exon4:c.A394G:p.I132V,ENSG00000132874:ENST00000323329:exon4:c.A394G:p.I132V,ENSG00000132874:ENST00000586448:exon5:c.A394G:p.I132V Score=550;Name=lod=229 NA 18q12.3 Score=946;Name=V$FOXO4_01 NA Name=2 NA rs1484873 0.89 0.89 0.879 0.892971 0.9314 0.8532 0.8818 0.8714 0.9315 0.93 0.83 0.88 0.9 0.9136 0.95 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.295 N 0.88 T -0.951 T 0.000 T 0.068 0.936 8.813 5.22 1.452 7.110 14.165 0.935818 NA 1 0.948372 0.883341 NA 0.906 NA 10.5399614 606 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 607 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 607 5 95728898 95728898 C G exonic PCSK1 NA nonsynonymous SNV PCSK1:NM_001177876:exon8:c.G1139C:p.S380T,PCSK1:NM_000439:exon14:c.G2069C:p.S690T,PCSK1:NM_001177875:exon14:c.G1928C:p.S643T exonic ENSG00000175426 NA nonsynonymous SNV ENSG00000175426:ENST00000311106:exon14:c.G2069C:p.S690T,ENSG00000175426:ENST00000508626:exon14:c.G1928C:p.S643T Score=243;Name=lod=13 Name=Proinsulin levels 5q15 NA NA NA NA rs6235 0.25 0.25 0.225 0.24381 0.2594 0.3591 0.2305 0.1263 0.2771 0.27 0.34 0.23 0.1 0.2653 0.34 0.56 T 0.003 B 0.004 B 0.001 N 1.000 P 1.59 L -0.05 T -1.051 T 0.000 T 0.034 0.968 8.948 3.95 2.713 0.893 9.522 0.967513 NA 0.18 0.277791 0.159328 NA 0.203 NA 10.5308424 607 17 34328461 34328461 A G exonic CCL15 NA nonsynonymous SNV CCL15:NM_032965:exon1:c.T71C:p.I24T exonic ENSG00000161574,ENSG00000267596 NA nonsynonymous SNV ENSG00000267596:ENST00000354059:exon1:c.T71C:p.I24T,ENSG00000161574:ENST00000481427:exon1:c.T71C:p.I24T,ENSG00000161574:ENST00000495214:exon1:c.T71C:p.I24T NA NA 17q12 Score=884;Name=V$YY1_01 Name=SP1,TBP,Pol2,FOXA1_(SC-101058),HNF4G_(SC-6558),HEY1 Name=4 NA rs854625 0.78 0.78 0.759 0.749002 0.9642 0.6339 0.9078 0.5613 0.7873 0.96 0.66 0.91 0.55 0.8782 0.96 0.6 T 0.0 B 0.0 B 0.004 N 1.000 P -0.345 N 3.53 T -0.994 T 0.000 T 0.089 -2.106 0.006 -4.81 -1.807 -3.300 12.327 -2.106246 NA 0.38 0.960233 0.567408 NA 0.71 NA 10.5307004 607 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 607 11 613208 613208 T C exonic IRF7 NA nonsynonymous SNV IRF7:NM_004031:exon7:c.A1274G:p.Q425R,IRF7:NM_004029:exon8:c.A1148G:p.Q383R,IRF7:NM_001572:exon9:c.A1235G:p.Q412R exonic ENSG00000185507 NA nonsynonymous SNV ENSG00000185507:ENST00000348655:exon7:c.A1148G:p.Q383R,ENSG00000185507:ENST00000397562:exon7:c.A356G:p.Q119R,ENSG00000185507:ENST00000397566:exon7:c.A1274G:p.Q425R,ENSG00000185507:ENST00000330243:exon8:c.A1274G:p.Q425R,ENSG00000185507:ENST00000397570:exon8:c.A1148G:p.Q383R,ENSG00000185507:ENST00000525445:exon8:c.A917G:p.Q306R,ENSG00000185507:ENST00000397574:exon9:c.A1235G:p.Q412R NA NA 11p15.5 NA Name=Pol2-4H8 NA NA rs1131665 0.28 0.28 0.248 0.275559 0.2674 0.0208 0.3026 0.5847 0.1094 0.26 0.01 0.34 0.58 0.2541 0.58 0.79 T 0.002 B 0.003 B 0.271 N 1.000 P -0.32 N -3.28 D -1.021 T 0.000 T 0.04 -2.739 0 -5.89 -1.746 -0.583 12.654 -2.738933 NA 0.77 0.28608 0.508884 NA 0.232 NA 10.5257534 608 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 608 11 7721870 7721870 G A exonic OVCH2 NA nonsynonymous SNV OVCH2:NM_198185:exon7:c.C874T:p.P292S exonic ENSG00000183378 NA nonsynonymous SNV ENSG00000183378:ENST00000454689:exon7:c.C874T:p.P292S Score=514;Name=lod=164 NA 11p15.4 NA NA NA NA rs10839849 0.88 0.88 0.852 0.844449 0.9513 0.999 0.9063 0.5666 0.907 0.96 1 0.93 0.58 0.9156 1 0.7 T 0.013 B 0.018 B 0.000 D 0.998 P 0 N -3.08 D -0.958 T 0.000 T 0.182 0.182 4.98 3.71 1.372 1.670 5.347 0.182103 NA 0.94 0.945524 0.64856 NA 0.797 NA 10.5209094 608 16 53358439 53358439 A G exonic CHD9 NA nonsynonymous SNV CHD9:NM_025134:exon39:c.A8278G:p.T2760A exonic ENSG00000177200 NA nonsynonymous SNV ENSG00000177200:ENST00000398510:exon38:c.A8326G:p.T2776A,ENSG00000177200:ENST00000447540:exon39:c.A8281G:p.T2761A,ENSG00000177200:ENST00000564845:exon39:c.A8278G:p.T2760A,ENSG00000177200:ENST00000566029:exon39:c.A8278G:p.T2760A Score=642;Name=lod=540 NA 16q12.2 NA NA NA NA rs3743771 0.23 0.23 0.22 0.210663 0.2704 0.2341 0.1571 0.1309 0.271 0.28 0.24 0.19 0.16 0.2578 0.28 0.98 T 0.004 B 0.009 B 0.001 N 0.007 P 1.04 L -1.99 D -1.097 T 0.000 T 0.187 -0.646 1.152 3.22 0.457 2.344 9.856 -0.646382 NA 0.43 0.28492 0.151618 ID=COSM435387;OCCURENCE=1(breast) 0.196 NA 10.5202134 608 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 608 10 17636309 17636309 G A exonic PTPLA NA nonsynonymous SNV PTPLA:NM_014241:exon6:c.C679T:p.H227Y exonic ENSG00000165996 NA nonsynonymous SNV ENSG00000165996:ENST00000361271:exon6:c.C679T:p.H227Y Score=417;Name=lod=66 NA 10p12.33 NA NA NA NA rs1053926 0.2 0.2 0.209 0.198482 0.3022 0.0685 0.1744 0.2542 0.1677 0.28 0.05 0.2 0.25 0.2319 0.29 1 T 0.0 B 0.0 B 0.000 N 0.000 P -0.885 N 1.6 T -0.987 T 0.000 T 0.079 -0.729 0.881 5.72 1.099 3.798 9.278 -0.728885 NA 1 0.280042 0.253745 NA 0.312 NA 10.5191914 608 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 608 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 609 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 609 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 609 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 609 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 609 19 45912736 45912736 C A exonic CD3EAP NA nonsynonymous SNV CD3EAP:NM_012099:exon3:c.C1510A:p.Q504K exonic ENSG00000117877 NA nonsynonymous SNV ENSG00000117877:ENST00000309424:exon3:c.C1510A:p.Q504K,ENSG00000117877:ENST00000589804:exon3:c.C1516A:p.Q506K NA NA 19q13.32 NA Name=Pol2-4H8 Name=3 NA rs3212986 0.29 0.29 0.272 0.295128 0.2505 0.2986 0.3545 0.2912 0.3006 0.27 0.28 0.35 0.31 0.3237 0.35 1 T 0.001 B 0.0 B 0.645 N 1.000 P -0.55 N 3.03 T -0.910 T 0.000 T 0.026 -1.134 0.114 2.68 0.209 -1.397 5.643 -1.133957 NA 1 0.245919 0.291267 NA 0.348 NA 10.5132144 609 6 46684222 46684222 C T exonic PLA2G7 NA nonsynonymous SNV PLA2G7:NM_001168357:exon4:c.G275A:p.R92H,PLA2G7:NM_005084:exon4:c.G275A:p.R92H exonic ENSG00000146070 NA nonsynonymous SNV ENSG00000146070:ENST00000538237:exon3:c.G140A:p.R47H,ENSG00000146070:ENST00000274793:exon4:c.G275A:p.R92H,ENSG00000146070:ENST00000537365:exon4:c.G275A:p.R92H NA Name=Lipoprotein-associated phospholipase A2 activity and mass 6p12.3 NA NA NA NA rs1805017 0.25 0.25 0.234 0.317492 0.2555 0.2192 0.3746 0.2572 0.5235 0.26 0.2 0.35 0.23 0.3033 0.35 0.19 T 0.0 B 0.0 B 0.788 N 1.000 P -0.17 N 0.59 T -1.025 T 0.020 T 0.11 0.465 6.523 -10.0 -1.652 -2.392 5.623 0.464769 NA 0.68 0.261628 0.275987 ID=COSM451580;OCCURENCE=1(breast) 0.297 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000049573.1;CLNDSDB=.;CLNDSDBID=. 10.5129054 609 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 609 X 71401607 71401607 G A exonic PIN4 NA nonsynonymous SNV PIN4:NM_001170747:exon1:c.G47A:p.R16Q,PIN4:NM_006223:exon1:c.G47A:p.R16Q exonic ENSG00000102309 NA nonsynonymous SNV ENSG00000102309:ENST00000218432:exon1:c.G47A:p.R16Q,ENSG00000102309:ENST00000373662:exon1:c.G47A:p.R16Q,ENSG00000102309:ENST00000373669:exon1:c.G47A:p.R16Q,ENSG00000102309:ENST00000423432:exon1:c.G47A:p.R16Q NA NA Xq13.1 NA Name=HA-E2F1,Pol2(phosphoS2),Pol2,Pol2-4H8,TAF1,IRF3,HNF4G_(SC-6558),ELF1_(SC-631),HEY1,IRF1,SP1,c-Myc,YY1_(C-20),TCF4,Max,Sin3Ak-20,HNF4A_(H-171),YY1,TR4,TBP,ELK4 Name=148 NA rs6525589 0.76 0.76 0.77186 NA NA NA NA NA NA 0.97 0.57 0.82 0.6 0.864 0.97 1 T 0.0 B 0.0 B 0.055 N 1.000 P 0 N . . -0.981 T 0.000 T 0.009 1.648 11.47 -2.0 -0.975 -1.628 5.576 1.64772 1.64772 1 0.963139 0.630508 ID=COSM1469288;OCCURENCE=1(large_intestine) 0.638 NA 10.5061944 609 22 19868218 19868218 A G exonic TXNRD2 NA unknown UNKNOWN exonic ENSG00000184470 NA nonsynonymous SNV ENSG00000184470:ENST00000535882:exon13:c.T1106C:p.I369T,ENSG00000184470:ENST00000542719:exon13:c.T1019C:p.I340T Score=420;Name=lod=68 NA 22q11.21 Score=786;Name=V$CDPCR3_01 Name=ETS1,GABP NA NA rs1139793 0.74 0.74 0.76 0.718251 0.7217 0.623 0.6239 0.9516 0.5644 0.72 0.64 0.67 0.94 0.7012 0.94 0.15 T 0.0 B 0.0 B 0.000 N 0.000 P -1.14 N 0.55 T -0.981 T 0.000 T 0.111 1.752 11.82 5.38 1.437 5.302 13.614 1.751901 1.751901 0.24 0.737709 0.915689 NA 0.768 NA 10.5060577 610 11 59224885 59224885 G C exonic OR4D6 NA nonsynonymous SNV OR4D6:NM_001004708:exon1:c.G452C:p.S151T exonic ENSG00000166884 NA nonsynonymous SNV ENSG00000166884:ENST00000300127:exon1:c.G452C:p.S151T NA NA 11q12.1 Score=806;Name=V$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 610 14 21526079 21526079 C T exonic RNASE8 NA nonsynonymous SNV RNASE8:NM_138331:exon1:c.C28T:p.P10S exonic ENSG00000173431 NA nonsynonymous SNV ENSG00000173431:ENST00000308227:exon1:c.C28T:p.P10S NA NA 14q11.2 NA Name=CTCF,JunD Name=35 NA rs12437266 0.56 0.56 0.535 0.546326 0.6412 0.6151 0.5922 0.4024 0.5399 0.63 0.61 0.57 0.39 0.5769 0.63 0.09 T 0.018 B 0.017 B 0.862 N 1.000 P 1.83 L -1.14 T -0.944 T 0.000 T 0.013 1.737 11.77 -4.89 -1.275 -1.080 7.253 1.737464 1.737464 0.05 0.614767 0.418066 NA 0.464 NA 10.5004664 610 4 174239746 174239746 T C intronic GALNT7 NA NA NA exonic ENSG00000109586 NA unknown UNKNOWN NA NA 4q34.1 NA Name=JunD Name=137 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA . . . . . . . . 1.000 N . . . . -0.996 T 0.052 T . -0.212 2.974 -3.28 -0.533 -1.363 4.998 -0.211859 NA NA NA NA NA NA NA 10.5 610 3 11643465 11643465 T C exonic VGLL4 NA nonsynonymous SNV VGLL4:NM_001128219:exon2:c.A114G:p.I38M,VGLL4:NM_014667:exon3:c.A96G:p.I32M exonic ENSG00000144560 NA nonsynonymous SNV ENSG00000144560:ENST00000430365:exon2:c.A114G:p.I38M,ENSG00000144560:ENST00000273038:exon3:c.A96G:p.I32M,ENSG00000144560:ENST00000417206:exon3:c.A96G:p.I32M,ENSG00000144560:ENST00000418000:exon3:c.A96G:p.I32M,ENSG00000144560:ENST00000419541:exon3:c.A96G:p.I32M,ENSG00000144560:ENST00000445411:exon3:c.A96G:p.I32M,ENSG00000144560:ENST00000458499:exon3:c.A84G:p.I28M,ENSG00000144560:ENST00000404339:exon4:c.A111G:p.I37M Score=472;Name=lod=111 NA 3p25.3 NA Name=SP1,Oct-2,BATF,YY1_(C-20),PU.1,EBF,Egr-1,CHD2_(N-1250),POU2F2,TCF12,Pol2-4H8,BCL11A,EBF1_(C-8),RFX5_(N-494),TAF1,ELF1_(SC-631) Name=73 NA rs2276749 0.95 0.95 0.944 0.929513 0.9543 0.9444 0.8862 0.9955 0.8303 0.95 0.93 0.92 0.99 0.9276 0.99 1 T 0.002 B 0.001 B 0.000 N 0.000 P . . 1.01 T -0.924 T 0.000 T 0.202 0.662 7.548 5.33 1.253 4.566 14.227 0.662163 NA 1 0.951744 0.988879 NA 0.971 NA 10.4996894 610 19 37310344 37310344 T C exonic ZNF790 NA nonsynonymous SNV ZNF790:NM_001242800:exon5:c.A902G:p.Q301R,ZNF790:NM_001242801:exon5:c.A902G:p.Q301R,ZNF790:NM_001242802:exon5:c.A902G:p.Q301R,ZNF790:NM_206894:exon5:c.A902G:p.Q301R exonic ENSG00000197863 NA nonsynonymous SNV ENSG00000197863:ENST00000356725:exon5:c.A902G:p.Q301R Score=419;Name=lod=67 NA 19q13.12 NA Name=KAP1,ZNF274,SETDB1 Name=12 NA rs3745775 0.26 0.26 0.267 0.290535 0.2922 0.2232 0.2161 0.2988 0.3998 0.27 0.21 0.25 0.31 0.2715 0.33 0.07 T 0.081 B 0.021 B . . 1.000 P 0.26 N 2.26 T -0.930 T 0.000 T 0.094 2.308 13.67 2.11 0.425 0.644 7.231 2.307549 2.307549 0.15 0.271744 0.286201 NA 0.261 NA 10.4978894 610 16 57392733 57392733 A C exonic CCL22 NA nonsynonymous SNV CCL22:NM_002990:exon1:c.A5C:p.D2A exonic ENSG00000102962 NA nonsynonymous SNV ENSG00000102962:ENST00000219235:exon1:c.A5C:p.D2A Score=251;Name=lod=14 NA 16q13 NA Name=TBP,Pol2-4H8,TAF1,ZEB1_(SC-25388),ELF1_(SC-631),Pol2 Name=20 NA rs4359426 0.92 0.92 0.919 0.916534 0.9652 0.879 0.8372 0.9516 0.9141 0.96 0.88 0.87 0.95 0.9199 0.96 1 T 0.0 B 0.0 B 0.004 N 1.000 P . . 4.3 T -0.964 T 0.000 T 0.075 -0.303 2.556 3.45 1.057 1.024 8.358 -0.302846 NA 0.77 0.950349 0.954732 NA 0.92 NA 10.4978844 610 2 189864080 189864080 G A exonic COL3A1 NA nonsynonymous SNV COL3A1:NM_000090:exon30:c.G2092A:p.A698T exonic ENSG00000168542 NA nonsynonymous SNV ENSG00000168542:ENST00000304636:exon30:c.G2092A:p.A698T,ENSG00000168542:ENST00000317840:exon30:c.G2092A:p.A698T Score=417;Name=lod=66 NA 2q32.2 Score=750;Name=V$HEN1_02 NA NA NA rs1800255 0.21 0.21 0.198 0.21845 0.2624 0.2331 0.2522 0.1051 0.2873 0.25 0.24 0.23 0.08 0.3204 0.25 0.3 T 0.0 B 0.0 B 0.017 N 0.708 P 0.395 N -3.22 D -1.057 T 0.000 T 0.158 2.666 14.88 0.873 0.246 0.487 1.737 2.666284 2.666284 0.17 0.254651 0.134362 NA 0.159 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=COLLAGEN_TYPE_III_POLYMORPHISM|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000018745.1|RCV000124409.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.4958824 610 3 157155314 157155314 C A exonic PTX3 NA nonsynonymous SNV PTX3:NM_002852:exon2:c.C143A:p.A48D exonic ENSG00000163661 NA nonsynonymous SNV ENSG00000163661:ENST00000295927:exon2:c.C143A:p.A48D Score=409;Name=lod=61 NA 3q25.32 Score=821;Name=V$CEBP_C NA Name=121 NA rs3816527 0.69 0.69 0.672 0.714657 0.6024 0.7569 0.7176 0.7436 0.7454 0.59 0.8 0.68 0.74 0.6566 0.8 1 T 0.0 B 0.0 B 0.411 N 0.000 P -1.935 N 3.26 T -0.988 T 0.000 T 0.043 -0.843 0.566 3.48 0.166 3.669 11.441 -0.843373 NA 1 0.578816 0.737113 NA 0.681 NA 10.4955174 610 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$ZID_01 Name=YY1_(C-20),Pbx3 Name=5 NA rs13385825 0.41 0.41 0.402 0.417732 0.3787 0.4494 0.33 0.447 0.4479 0.38 0.46 0.39 0.4 0.4046 0.46 . . . . . . . . 0.000 P . . . . . . . . . 0.959 8.911 -11.0 -3.781 -3.150 3.259 0.958801 NA NA 0.388022 0.409553 NA 0.261 NA 10.4953446 611 22 31998612 31998612 G A exonic SFI1 NA nonsynonymous SNV SFI1:NM_001258325:exon15:c.G1481A:p.R494Q,SFI1:NM_001258326:exon15:c.G1400A:p.R467Q,SFI1:NM_001258327:exon15:c.G1400A:p.R467Q,SFI1:NM_014775:exon16:c.G1553A:p.R518Q,SFI1:NM_001007467:exon17:c.G1646A:p.R549Q exonic ENSG00000198089 NA nonsynonymous SNV ENSG00000198089:ENST00000417682:exon6:c.G491A:p.R164Q,ENSG00000198089:ENST00000414585:exon13:c.G1187A:p.R396Q,ENSG00000198089:ENST00000443011:exon13:c.G1187A:p.R396Q,ENSG00000198089:ENST00000400289:exon15:c.G1400A:p.R467Q,ENSG00000198089:ENST00000443326:exon15:c.G1400A:p.R467Q,ENSG00000198089:ENST00000540643:exon15:c.G1481A:p.R494Q,ENSG00000198089:ENST00000432498:exon16:c.G1553A:p.R518Q,ENSG00000198089:ENST00000400288:exon17:c.G1646A:p.R549Q Score=251;Name=lod=14 NA 22q12.2 NA Name=p300,c-Fos Name=106 NA rs2006771 0.35 0.35 0.356 0.351837 0.4612 0.12 0.3847 0.4138 0.3712 0.45 0.12 0.42 0.41 0.4146 0.46 0.65 T 0.733 P 0.117 B 0.726 N 1.000 P 0 N 1.59 T -0.952 T 0.000 T 0.231 1.425 10.7 -3.74 -0.393 -0.421 11.677 1.424511 1.424511 0.42 0.463806 0.420253 NA 0.384 NA 10.4937274 611 6 31604044 31604044 T G exonic PRRC2A NA nonsynonymous SNV PRRC2A:NM_004638:exon26:c.T5683G:p.L1895V,PRRC2A:NM_080686:exon26:c.T5683G:p.L1895V exonic ENSG00000204469 NA nonsynonymous SNV ENSG00000204469:ENST00000376007:exon26:c.T5683G:p.L1895V,ENSG00000204469:ENST00000376033:exon26:c.T5683G:p.L1895V Score=524;Name=lod=180 NA 6p21.33 Score=765;Name=V$SEF1_C NA NA NA rs3132453 0.97 0.97 0.976 0.985224 0.9483 1 0.9726 0.9977 1 0.94 1 0.97 1 0.9586 1 0 D 0.0 B 0.0 B 0.000 N 1.000 P -1.1 N 4.9 T -0.876 T 0.001 T 0.045 1.931 12.41 5.25 1.465 1.335 12.767 1.93093 1.93093 0.76 0.933001 0.984437 NA 0.964 NA 10.4934324 611 3 46759010 46759010 T G exonic PRSS50 NA nonsynonymous SNV PRSS50:NM_013270:exon2:c.A224C:p.Q75P exonic ENSG00000206549 NA nonsynonymous SNV ENSG00000206549:ENST00000315170:exon2:c.A224C:p.Q75P,ENSG00000206549:ENST00000460241:exon7:c.A224C:p.Q75P NA NA 3p21.31 NA Name=NRSF NA NA rs34788938 0.25 0.25 0.24 0.310104 0.0895 0.2619 0.2464 0.6021 0.2372 0.09 0.24 0.22 0.54 0.1701 0.54 0.26 T 0.838 P 0.278 B 0.127 N 1.000 P 0.895 L -2.48 D -1.020 T 0.000 T 0.14 2.668 14.88 2.16 0.644 -0.048 5.878 2.667913 2.667913 0.04 0.081395 0.496596 NA 0.239 NA 10.4923384 611 7 100466441 100466441 G A exonic TRIP6 NA nonsynonymous SNV TRIP6:NM_003302:exon4:c.G688A:p.V230I exonic ENSG00000087077 NA nonsynonymous SNV ENSG00000087077:ENST00000200457:exon4:c.G688A:p.V230I NA NA 7q22.1 NA Name=PU.1 Name=4 NA rs2075756 0.28 0.28 0.265 0.271565 0.2644 0.4464 0.4553 0.0575 0.2577 0.25 0.45 0.39 0.06 0.3076 0.45 0.21 T 0.0 B 0.0 B 0.149 N 0.999 P 1.1 L 0.25 T -1.037 T 0.000 T 0.095 3.175 16.62 5.09 2.341 0.540 13.960 3.175315 3.175315 0.4 0.269014 0.11153 NA 0.225 NA 10.4923194 611 8 40438757 40438757 T C exonic ZMAT4 NA nonsynonymous SNV ZMAT4:NM_001135731:exon5:c.A373G:p.T125A,ZMAT4:NM_024645:exon6:c.A601G:p.T201A exonic ENSG00000165061 NA nonsynonymous SNV ENSG00000165061:ENST00000315769:exon5:c.A373G:p.T125A,ENSG00000165061:ENST00000297737:exon6:c.A601G:p.T201A,ENSG00000165061:ENST00000519406:exon6:c.A601G:p.T201A Score=545;Name=lod=218 NA 8p11.21 NA NA NA NA rs17851751 0.15 0.15 0.152 0.141773 0.3121 0.002 0.2147 0.0688 0.1575 0.3 NA 0.19 0.08 0.2283 0.3 0.36 T 0.047 B 0.039 B 0.031 N 0.955 P 0.805 L 2.01 T -0.978 T 0.000 T 0.223 2.199 13.31 4.49 0.971 2.601 9.549 2.198852 2.198852 0.69 0.301628 0.101453 ID=COSM1179839;OCCURENCE=1(prostate) 0.217 NA 10.4913054 611 16 88779132 88779132 C T exonic CTU2 NA nonsynonymous SNV CTU2:NM_001012759:exon7:c.C556T:p.H186Y,CTU2:NM_001012762:exon7:c.C556T:p.H186Y exonic ENSG00000174177 NA nonsynonymous SNV ENSG00000174177:ENST00000378384:exon6:c.C295T:p.H99Y,ENSG00000174177:ENST00000312060:exon7:c.C556T:p.H186Y,ENSG00000174177:ENST00000453996:exon7:c.C556T:p.H186Y,ENSG00000174177:ENST00000567949:exon7:c.C769T:p.H257Y Score=355;Name=lod=37 NA 16q24.3 NA NA NA NA rs2290895 0.12 0.12 0.133 0.11861 0.1143 0.0605 0.0778 0.2262 0.0665 0.11 0.05 0.11 0.23 0.1086 0.23 0.64 T 0.868 P 0.341 B 0.196 N 0.998 P 1.61 L 2.51 T -0.974 T 0.000 T 0.199 2.6 14.65 3.49 0.967 -0.113 12.848 2.599754 2.599754 0.02 0.121622 0.215753 NA 0.123 NA 10.4888114 612 4 39000305 39000305 A G exonic TMEM156 NA nonsynonymous SNV TMEM156:NM_024943:exon2:c.T313C:p.S105P exonic ENSG00000121895 NA nonsynonymous SNV ENSG00000121895:ENST00000381938:exon2:c.T313C:p.S105P Score=366;Name=lod=41 NA 4p14 Score=794;Name=V$HTF_01 NA NA NA rs11542133 0.28 0.28 0.263 0.276358 0.2843 0.4196 0.2536 0.1127 0.3579 0.28 0.43 0.25 0.13 0.2914 0.43 0.07 T 0.04 B 0.043 B 0.000 N 0.155 P 1.895 L 1.18 T -0.964 T 0.000 T 0.152 1.786 11.93 3.54 0.927 2.110 6.195 1.785547 1.785547 0 0.275698 0.139809 NA 0.362 NA 10.4819354 612 15 65494212 65494212 A G exonic CILP NA nonsynonymous SNV CILP:NM_003613:exon8:c.T1184C:p.I395T exonic ENSG00000138615 NA nonsynonymous SNV ENSG00000138615:ENST00000261883:exon8:c.T1184C:p.I395T Score=403;Name=lod=58 NA 15q22.31 NA NA NA NA rs2073711 0.51 0.51 0.539 0.496605 0.6471 0.1429 0.6254 0.6732 0.3763 0.65 0.16 0.61 0.65 0.5682 0.65 0.15 T 0.0 B 0.001 B 0.000 N 0.006 P 2.085 M 1.19 T -0.983 T 0.000 T 0.222 1.588 11.26 3.4 0.523 4.093 9.494 1.587634 1.587634 0.04 0.636311 0.636013 NA 0.558 CLINSIG=other;CLNDBN=Lumbar_disc_disease\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000006692.1;CLNDSDB=.;CLNDSDBID=. 10.4817224 612 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 612 9 5557708 5557708 T C exonic PDCD1LG2 NA nonsynonymous SNV PDCD1LG2:NM_025239:exon5:c.T722C:p.I241T exonic ENSG00000197646 NA nonsynonymous SNV ENSG00000197646:ENST00000397745:exon4:c.T452C:p.I151T,ENSG00000197646:ENST00000397747:exon5:c.T722C:p.I241T NA NA 9p24.1 NA NA Name=7 NA rs7854413 0.23 0.23 0.254 0.279952 0.1034 0.1151 0.1326 0.6422 0.2464 0.1 0.12 0.14 0.62 0.1549 0.62 0.01 D 0.816 P 0.244 B 0.026 N 1.000 P 1.04 L 5.07 T -1.012 T 0.000 T 0.193 1.085 9.427 2.37 0.337 0.297 5.786 1.084533 NA 0.01 0.09593 0.550386 NA 0.312 NA 10.4791034 612 19 55281315 55281315 G T exonic KIR2DL1 NA nonsynonymous SNV KIR2DL1:NM_014218:exon1:c.G13T:p.V5F exonic ENSG00000125498 NA nonsynonymous SNV ENSG00000125498:ENST00000291633:exon1:c.G13T:p.V5F,ENSG00000125498:ENST00000336077:exon1:c.G13T:p.V5F Score=321;Name=lod=27 NA 19q13.42 NA NA NA NA rs2304224 0.19 0.19 0.186 0.156749 0.3062 0.127 0.134 0.0855 0.1462 0.32 0.12 0.16 0.08 0.2358 0.32 0.03 D 0.754 P 0.602 P . . 0.000 P 1.77 L 7.03 T -0.929 T 0.000 T 0.102 1.016 9.149 -1.03 -1.276 -1.332 . 1.015848 NA 0.02 0.312277 0.105983 ID=COSM440292;OCCURENCE=1(breast) 0.101 NA 10.4790564 613 12 53186088 53186088 G C exonic KRT3 NA nonsynonymous SNV KRT3:NM_057088:exon5:c.C1123G:p.R375G exonic ENSG00000186442 NA nonsynonymous SNV ENSG00000186442:ENST00000309505:exon5:c.C1123G:p.R375G,ENSG00000186442:ENST00000417996:exon5:c.C1123G:p.R375G NA NA 12q13.13 NA NA NA NA rs3887954 0.43 0.43 0.424 0.377796 0.672 0.1369 0.4539 0.3775 0.2699 0.68 0.13 0.51 0.36 0.5234 0.68 0 D 0.996 D 0.944 D 0.175 N 1.000 P 3.385 M -3.21 D -0.941 T 0.000 T 0.169 1.612 11.35 0.697 0.289 0.076 14.767 1.612222 1.612222 0 0.66314 0.43188 NA 0.471 NA 10.4747934 613 11 65793454 65793454 C T exonic CATSPER1 NA nonsynonymous SNV CATSPER1:NM_053054:exon1:c.G397A:p.G133S exonic ENSG00000175294 NA nonsynonymous SNV ENSG00000175294:ENST00000312106:exon1:c.G397A:p.G133S NA NA 11q13.1 NA NA NA NA rs1203998 0.37 0.37 0.337 0.336462 0.2763 0.3859 0.4625 0.4546 0.0982 0.28 0.38 0.4 0.48 0.3048 0.48 1 T 0.001 B 0.0 B 0.675 N 1.000 P -1.175 N -4.06 D -1.043 T 0.000 T 0.032 -0.048 3.768 -3.4 -1.063 -2.144 6.871 -0.048212 NA 1 0.278166 0.440936 NA 0.312 NA 10.4740674 613 1 248129240 248129240 G A exonic OR2AK2 NA nonsynonymous SNV OR2AK2:NM_001004491:exon1:c.G607A:p.V203M exonic ENSG00000187080 NA nonsynonymous SNV ENSG00000187080:ENST00000366480:exon1:c.G607A:p.V203M NA NA 1q44 NA NA NA NA rs4478844 0.46 0.46 0.414 0.43131 0.6531 0.4623 0.5706 0.0915 0.5317 0.65 0.46 0.56 0.11 0.5658 0.65 0 D 1.0 D 0.994 D . . 1.000 P 1.95 M 8.64 T -1.052 T 0.000 T 0.049 2.805 15.34 0.632 0.522 -1.749 3.338 2.805213 2.805213 0 0.640698 0.194281 NA 0.514 NA 10.4737354 613 3 46009487 46009487 G A exonic FYCO1 NA nonsynonymous SNV FYCO1:NM_024513:exon8:c.C1339T:p.R447C exonic ENSG00000163820 NA nonsynonymous SNV ENSG00000163820:ENST00000535325:exon7:c.C1339T:p.R447C,ENSG00000163820:ENST00000296137:exon8:c.C1339T:p.R447C NA NA 3p21.31 NA NA Name=2 NA rs33910087 0.06 0.06 0.058 0.108227 0.1223 0.005 0.0591 0.0166 0.3589 0.14 NA 0.05 0.02 0.1276 0.14 0.02 D 0.953 P 0.28 B 0.577 N 1.000 P 1.39 L 2.03 T -1.045 T 0.000 T 0.094 0.597 7.22 -5.38 -0.676 -0.006 0.960 0.597222 NA 0.05 0.110233 0.030867 NA 0.051 NA 10.4732004 613 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=NFKB,Pol2-4H8 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 613 17 39884583 39884583 G A exonic HAP1 NA nonsynonymous SNV HAP1:NM_001079870:exon7:c.C1094T:p.S365L,HAP1:NM_001079871:exon7:c.C1070T:p.S357L,HAP1:NM_177977:exon7:c.C1070T:p.S357L exonic ENSG00000173805 NA nonsynonymous SNV ENSG00000173805:ENST00000310778:exon7:c.C1070T:p.S357L,ENSG00000173805:ENST00000341193:exon7:c.C1094T:p.S365L,ENSG00000173805:ENST00000347901:exon7:c.C1070T:p.S357L,ENSG00000173805:ENST00000393939:exon7:c.C1070T:p.S357L Score=433;Name=lod=77 NA 17q21.2 NA NA Name=6 NA rs4796693 0.77 0.77 0.778 0.773163 0.7982 0.9018 0.7925 0.5386 0.9182 0.8 0.9 0.78 0.58 0.7759 0.9 0.5 T 0.992 D 0.709 P 0.066 N 0.000 P 1.995 M 2.2 T -0.982 T 0.000 T 0.209 2.21 13.35 1.07 0.105 1.437 7.269 2.210357 2.210357 0.33 0.786977 0.57921 NA 0.819 NA 10.4722564 613 10 61414011 61414011 G T exonic SLC16A9 NA nonsynonymous SNV SLC16A9:NM_194298:exon5:c.C773A:p.T258K exonic ENSG00000165449 NA nonsynonymous SNV ENSG00000165449:ENST00000395347:exon5:c.C773A:p.T258K,ENSG00000165449:ENST00000395348:exon5:c.C773A:p.T258K NA NA 10q21.2 NA Name=PU.1 Name=26 NA rs2242206 0.33 0.33 0.271 0.345048 0.2664 0.5804 0.3847 0.0696 0.5276 0.28 0.6 0.31 0.1 0.3348 0.6 0.93 T 0.116 B 0.038 B 0.209 N 1.000 P 0.205 N 3.7 T -0.971 T 0.000 T 0.063 -2.322 0.004 2.0 0.470 1.236 3.343 -2.322151 NA 0.44 0.259884 0.106219 NA 0.254 NA 10.4722494 613 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 613 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 613 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 613 19 9076858 9076858 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.G10588A:p.V3530I exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G10588A:p.V3530I NA NA 19p13.2 NA Name=Max,NRSF Name=4 NA rs2547074 0.25 0.25 0.254 0.248403 0.3121 0.25 0.2118 0.2005 0.272 0.31 0.21 0.24 0.22 0.2628 0.31 0 D 0.194 B 0.03 B . . . . 0 N 4.3 T -0.911 T 0.000 T 0.012 0.049 4.266 -2.83 -0.634 -0.014 2.792 0.048546 NA 0.85 0.289299 0.214152 NA 0.254 NA 10.4691344 613 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 613 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 613 3 100473505 100473505 C T exonic ABI3BP NA synonymous SNV ABI3BP:NM_015429:exon31:c.G2748A:p.P916P exonic ENSG00000154175 NA synonymous SNV ENSG00000154175:ENST00000284322:exon31:c.G2748A:p.P916P,ENSG00000154175:ENST00000383691:exon41:c.G2610A:p.P870P,ENSG00000154175:ENST00000471714:exon63:c.G4854A:p.P1618P Score=555;Name=lod=240 NA 3q12.2 NA Name=Rad21,CTCF NA NA rs10936352 0.26 0.26 0.223 0.290935 0.3698 0.1181 0.4193 0.1157 0.5337 0.37 0.14 0.4 0.14 0.4401 0.4 . . . . . . . . 0.000 P . . . . -0.965 T 0.000 T . 1.053 9.3 -9.53 -1.214 -1.170 3.940 1.052738 NA NA 0.390938 0.149811 NA 0.21 NA 10.4658286 614 11 58978940 58978940 C T exonic MPEG1 NA nonsynonymous SNV MPEG1:NM_001039396:exon1:c.G1399A:p.A467T exonic ENSG00000197629 NA nonsynonymous SNV ENSG00000197629:ENST00000361050:exon1:c.G1399A:p.A467T NA NA 11q12.1 Score=913;Name=V$NF1_Q6 NA NA NA rs544864 0.28 0.28 0.249 0.267772 0.2893 0.2946 0.402 0.1165 0.3272 0.29 0.33 0.37 0.13 0.2924 0.37 0.16 T 0.256 B 0.055 B 0.001 N 0.999 P 1.935 M 0.87 T -0.985 T 0.000 T 0.11 1.484 10.91 4.8 1.368 0.887 12.838 1.483642 1.483642 0.4 0.286891 0.144954 NA 0.275 NA 10.4647424 614 19 6896483 6896483 G A exonic EMR1 NA nonsynonymous SNV EMR1:NM_001256252:exon3:c.G169A:p.A57T,EMR1:NM_001256253:exon3:c.G169A:p.A57T,EMR1:NM_001256254:exon3:c.G169A:p.A57T,EMR1:NM_001256255:exon3:c.G169A:p.A57T,EMR1:NM_001974:exon3:c.G169A:p.A57T exonic ENSG00000174837 NA nonsynonymous SNV ENSG00000174837:ENST00000595026:exon1:c.G67A:p.A23T,ENSG00000174837:ENST00000250572:exon3:c.G169A:p.A57T,ENSG00000174837:ENST00000312053:exon3:c.G169A:p.A57T,ENSG00000174837:ENST00000381404:exon3:c.G169A:p.A57T,ENSG00000174837:ENST00000381407:exon3:c.G169A:p.A57T,ENSG00000174837:ENST00000450315:exon3:c.G169A:p.A57T NA NA 19p13.3 NA NA NA NA rs330877 0.33 0.33 0.337 0.338059 0.2674 0.3403 0.3934 0.3903 0.2986 0.27 0.37 0.41 0.34 0.3091 0.43 0.99 T 0.001 B 0.001 B . . 1.000 P -1.415 N -2.93 D -1.097 T 0.000 T 0.036 -1.201 0.072 -3.26 -1.051 -1.030 4.400 -1.200768 NA 1 0.292093 0.362006 NA 0.319 NA 10.4647404 614 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$HEN1_02 NA NA NA rs462007 0.81 0.81 0.805 0.816094 0.8062 0.6796 0.7954 0.9887 0.7485 0.81 0.67 0.82 0.98 0.7801 0.98 0.06 T 1.0 D 0.895 P . . 0.001 P 1.955 M 5.85 T -0.939 T 0.000 T 0.125 0.878 8.562 3.04 0.187 -1.248 6.258 0.877898 NA 0.03 0.782837 0.956176 NA 0.63 NA 10.4641964 614 9 127818276 127818276 C T exonic SCAI NA nonsynonymous SNV SCAI:NM_001144877:exon3:c.G109A:p.A37T,SCAI:NM_173690:exon4:c.G178A:p.A60T exonic ENSG00000173611 NA nonsynonymous SNV ENSG00000173611:ENST00000336505:exon3:c.G109A:p.A37T,ENSG00000173611:ENST00000477186:exon3:c.G109A:p.A37T,ENSG00000173611:ENST00000373549:exon4:c.G178A:p.A60T Score=591;Name=lod=337 NA 9q33.3 NA NA NA NA rs589292 0.25 0.25 0.249 0.231629 0.3101 0.3065 0.2133 0.1339 0.2188 0.28 0.31 0.23 0.14 0.2543 0.31 0.74 T 0.187 B 0.082 B 0.007 N 0.995 P 0 N 0.86 T -0.994 T 0.000 T 0.099 2.972 15.91 3.38 1.219 1.092 9.353 2.971661 2.971661 0.86 0.30589 0.15446 NA 0.181 NA 10.4630434 614 3 64587818 64587818 G A exonic ADAMTS9 NA synonymous SNV ADAMTS9:NM_182920:exon26:c.C3819T:p.I1273I exonic ENSG00000163638 NA synonymous SNV ENSG00000163638:ENST00000295903:exon25:c.C3735T:p.I1245I,ENSG00000163638:ENST00000498707:exon26:c.C3819T:p.I1273I Score=497;Name=lod=140 NA 3p14.1 Score=915;Name=V$CDPCR1_01 NA NA NA rs6771712 0.06 0.06 0.058 0.0585064 0.0706 0.002 0.0504 0.1256 0.0194 0.07 0.0035 0.07 0.11 0.0632 0.14 . . . . . . . . 0.000 P . . . . -1.027 T 0.001 T . 0.919 8.743 -6.15 -1.028 -0.317 6.821 0.919395 NA NA 0.071744 0.136859 NA 0.094 NA 10.4611226 614 8 8747894 8747894 A G exonic MFHAS1 NA nonsynonymous SNV MFHAS1:NM_004225:exon1:c.T2675C:p.L892P exonic ENSG00000147324 NA nonsynonymous SNV ENSG00000147324:ENST00000276282:exon1:c.T2675C:p.L892P Score=568;Name=lod=272 NA 8p23.1 Score=759;Name=V$PAX6_01 NA Name=15 NA rs429433 0.96 0.96 0.958 0.969449 0.9523 1 0.9568 0.9516 0.9888 0.96 1 0.95 0.93 0.9669 1 0.49 T 0.0 B 0.0 B 0.000 N 0.003 P -0.805 N 1.52 T -0.960 T 0.000 T 0.095 1.203 9.886 5.04 1.387 6.135 12.921 1.203017 NA 0.25 0.954884 0.947798 NA 0.978 NA 10.4592494 614 17 17250159 17250159 C T exonic NT5M NA synonymous SNV NT5M:NM_020201:exon5:c.C585T:p.T195T exonic ENSG00000205309 NA synonymous SNV ENSG00000205309:ENST00000389022:exon5:c.C585T:p.T195T NA NA 17p11.2 NA NA NA NA rs2240876 0.13 0.13 0.108 0.133586 0.0467 0.376 0.147 0.0061 0.136 0.04 0.36 0.14 0.01 0.1027 0.36 0.02 D 0.017 B 0.004 B 0.000 D 0.000 P . . . . -1.008 T 0.000 T . 0.515 6.792 -11.6 -4.341 -8.002 6.460 0.51507 NA 0 0.05814 0.014526 NA 0.08 NA 10.4591266 614 22 50962782 50962782 C G exonic SCO2 NA nonsynonymous SNV SCO2:NM_001169109:exon2:c.G59C:p.R20P,SCO2:NM_001169110:exon2:c.G59C:p.R20P,SCO2:NM_001169111:exon2:c.G59C:p.R20P,SCO2:NM_005138:exon2:c.G59C:p.R20P exonic ENSG00000130489 NA nonsynonymous SNV ENSG00000130489:ENST00000252785:exon2:c.G59C:p.R20P,ENSG00000130489:ENST00000395693:exon2:c.G59C:p.R20P,ENSG00000130489:ENST00000423348:exon2:c.G59C:p.R20P,ENSG00000130489:ENST00000439934:exon2:c.G59C:p.R20P,ENSG00000130489:ENST00000535425:exon2:c.G59C:p.R20P,ENSG00000130489:ENST00000543927:exon2:c.G59C:p.R20P NA NA 22q13.33 NA Name=Pol2-4H8 Name=28 NA rs140523 0.64 0.64 0.638 0.651558 0.6183 0.6677 0.6196 0.6558 0.6861 0.61 0.71 0.57 0.65 0.6393 0.71 0.29 T 0.0 B 0.0 B 0.004 N 1.000 P -0.55 N -0.68 T -0.992 T 0.000 T 0.613 0.348 5.887 -3.74 -1.142 -3.570 5.354 0.347848 NA 0.18 0.616994 0.657344 ID=COSM1484348,COSM445183;OCCURENCE=1(breast) 0.652 NA 10.4587394 614 11 9537904 9537904 G C exonic ZNF143 NA nonsynonymous SNV ZNF143:NM_003442:exon14:c.G1681C:p.E561Q exonic ENSG00000166478 NA nonsynonymous SNV ENSG00000166478:ENST00000299606:exon13:c.G1597C:p.E533Q,ENSG00000166478:ENST00000396597:exon13:c.G1588C:p.E530Q,ENSG00000166478:ENST00000396602:exon14:c.G1681C:p.E561Q,ENSG00000166478:ENST00000396604:exon14:c.G1678C:p.E560Q,ENSG00000166478:ENST00000530463:exon14:c.G1678C:p.E560Q Score=463;Name=lod=102 NA 11p15.4 NA Name=JunD,Max Name=16 NA rs10743108 0.9 0.9 0.915 0.901158 0.9732 0.7788 0.8617 0.9864 0.8661 0.98 0.77 0.87 0.98 0.9261 0.98 0.52 T 0.0 B 0.0 B 0.000 N 1.000 P -1.04 N 3.15 T -0.979 T 0.000 T 0.253 0.581 7.137 5.82 1.481 3.791 15.515 0.581136 NA 1 0.977876 0.977965 NA 0.928 NA 10.4561574 615 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 615 11 4661285 4661285 A G exonic OR51D1 NA nonsynonymous SNV OR51D1:NM_001004751:exon1:c.A265G:p.I89V exonic ENSG00000197428 NA nonsynonymous SNV ENSG00000197428:ENST00000357605:exon1:c.A265G:p.I89V NA NA 11p15.4 NA NA NA NA rs905871 0.14 0.14 0.131 0.119209 0.2992 0.003 0.2046 0.0182 0.1299 0.29 0.01 0.22 0.03 0.2431 0.34 0.04 D 0.0 B 0.0 B 0.880 N 1.000 P -0.925 N 7.71 T -1.083 T 0.000 T 0.011 -1.127 0.12 -4.42 -1.020 -1.347 5.308 -1.12693 NA 0.58 0.338879 0.084734 NA 0.101 NA 10.4521544 616 15 66618342 66618342 A G exonic DIS3L NA nonsynonymous SNV DIS3L:NM_001143688:exon12:c.A1841G:p.D614G,DIS3L:NM_133375:exon12:c.A1592G:p.D531G exonic ENSG00000166938 NA nonsynonymous SNV ENSG00000166938:ENST00000319194:exon12:c.A1592G:p.D531G,ENSG00000166938:ENST00000319212:exon12:c.A1841G:p.D614G Score=284;Name=lod=19 NA 15q22.31 NA NA NA NA rs3803412 0.25 0.25 0.223 0.251198 0.2952 0.3165 0.3199 0.0953 0.3006 0.3 0.3 0.29 0.09 0.2925 0.3 0.2 T 0.002 B 0.006 B 0.008 N 0.000 P -0.29 N 1.81 T -0.953 T 0.000 T 0.048 1.017 9.152 5.31 1.991 4.706 14.429 1.016533 NA 0.11 0.304373 0.138119 NA 0.152 NA 10.4412604 616 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 616 22 37271802 37271802 C T exonic NCF4 NA synonymous SNV NCF4:NM_000631:exon8:c.C735T:p.Y245Y,NCF4:NM_013416:exon8:c.C735T:p.Y245Y exonic ENSG00000100365 NA synonymous SNV ENSG00000100365:ENST00000447071:exon7:c.C426T:p.Y142Y,ENSG00000100365:ENST00000248899:exon8:c.C735T:p.Y245Y,ENSG00000100365:ENST00000397147:exon8:c.C735T:p.Y245Y Score=477;Name=lod=116 NA 22q12.3 NA NA NA NA rs2072712 0.11 0.11 0.097 0.131589 0.0656 0.0645 0.1383 0.2549 0.0971 0.06 0.06 0.14 0.23 0.0933 0.23 . . . . . . . . 0.000 P . . . . . . . . . 0.489 6.651 -9.15 -2.252 -1.907 13.881 0.488624 NA NA 0.068837 0.211076 NA 0.036 NA 10.4389296 616 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 616 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 617 4 154513627 154513627 A G exonic KIAA0922 NA nonsynonymous SNV KIAA0922:NM_001131007:exon18:c.A1813G:p.I605V,KIAA0922:NM_015196:exon18:c.A1810G:p.I604V exonic ENSG00000121210 NA nonsynonymous SNV ENSG00000121210:ENST00000409663:exon18:c.A1810G:p.I604V,ENSG00000121210:ENST00000409959:exon18:c.A1813G:p.I605V Score=401;Name=lod=57 NA 4q31.3 NA NA Name=8 NA rs7669418 0.26 0.26 0.248 0.225639 0.3072 0.2361 0.2147 0.1483 0.2434 0.32 0.27 0.26 0.14 0.2838 0.32 . . 0.0 B 0.0 B 0.000 N 0.000 P -1.58 N 2.73 T -0.937 T 0.000 T 0.028 -1.541 0.015 3.55 0.596 6.044 10.008 -1.540589 NA 1 0.310465 0.180209 ID=COSM149744;OCCURENCE=1(stomach) 0.232 NA 10.4318684 617 9 27183463 27183463 A C exonic TEK NA nonsynonymous SNV TEK:NM_000459:exon8:c.A1037C:p.Q346P exonic ENSG00000120156 NA nonsynonymous SNV ENSG00000120156:ENST00000519080:exon5:c.A467C:p.Q156P,ENSG00000120156:ENST00000519097:exon6:c.A596C:p.Q199P,ENSG00000120156:ENST00000406359:exon7:c.A908C:p.Q303P,ENSG00000120156:ENST00000380036:exon8:c.A1037C:p.Q346P Score=592;Name=lod=340 NA 9p21.2 Score=935;Name=V$TCF11_01 NA Name=12 NA rs682632 0.98 0.98 0.985 0.989816 0.9662 0.999 0.9856 0.9985 0.9959 0.96 1 0.98 1 0.9733 1 1 T 0.0 B 0.0 B 0.006 N 0.999 P -0.205 N 2.87 T -0.934 T 0.000 T 0.485 1.402 10.62 5.52 1.484 1.090 13.325 1.402467 1.402467 0.32 0.961977 0.993645 NA 0.935 NA 10.4318564 617 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 617 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 617 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 617 6 10955408 10955408 C T exonic SYCP2L NA nonsynonymous SNV SYCP2L:NM_001040274:exon24:c.C2014T:p.P672S exonic ENSG00000153157 NA nonsynonymous SNV ENSG00000153157:ENST00000283141:exon24:c.C2014T:p.P672S NA NA 6p24.2 NA NA NA NA rs1225746 0.89 0.89 0.878 0.883387 0.9751 0.8036 0.9424 0.7814 0.9673 0.98 0.81 0.94 0.79 0.9403 0.99 0.14 T 0.998 D 0.948 D 0.083 N 0.000 P 2.175 M 1.9 T -1.050 T 0.106 T 0.064 1.934 12.42 5.23 2.729 1.059 14.234 1.933578 1.933578 0 0.988972 0.822344 ID=COSM150048;OCCURENCE=1(stomach) 0.855 NA 10.4289614 617 19 51520487 51520487 A C exonic KLK10 NA nonsynonymous SNV KLK10:NM_001077500:exon3:c.T148G:p.S50A,KLK10:NM_002776:exon3:c.T148G:p.S50A,KLK10:NM_145888:exon3:c.T148G:p.S50A exonic ENSG00000129451 NA nonsynonymous SNV ENSG00000129451:ENST00000309958:exon3:c.T148G:p.S50A,ENSG00000129451:ENST00000358789:exon3:c.T148G:p.S50A,ENSG00000129451:ENST00000391805:exon3:c.T148G:p.S50A,ENSG00000129451:ENST00000599077:exon3:c.T148G:p.S50A NA NA 19q13.41 NA Name=CTCF,Pol2 Name=7 NA rs3745535 0.71 0.71 0.713 0.694289 0.6213 0.6548 0.6772 0.9811 0.4346 0.62 0.62 0.68 0.96 0.6449 0.96 0.55 T 0.0 B 0.003 B . . 1.000 P 1.095 L -2.42 D -0.984 T 0.000 T 0.057 -0.107 3.474 -2.83 -0.576 -1.050 4.883 -0.107412 NA 0.64 0.641375 0.921975 NA 0.754 NA 10.4257584 617 1 116310967 116310967 T C exonic CASQ2 NA nonsynonymous SNV CASQ2:NM_001232:exon1:c.A196G:p.T66A exonic ENSG00000118729 NA nonsynonymous SNV ENSG00000118729:ENST00000261448:exon1:c.A196G:p.T66A,ENSG00000118729:ENST00000456138:exon1:c.A196G:p.T66A NA Name=Ventricular conduction 1p13.1 NA NA NA NA rs4074536 0.41 0.41 0.42 0.401158 0.2922 0.5159 0.3674 0.4856 0.3047 0.3 0.5 0.37 0.51 0.3265 0.51 0.93 T 0.0 B 0.0 B 0.025 N 1.000 P -1.7 N 1.18 T -0.939 T 0.006 T 0.011 -2.172 0.005 3.44 0.685 1.594 8.620 -2.171649 NA 1 0.28907 0.437585 ID=COSM1332993;OCCURENCE=1(large_intestine) 0.471 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037136.1;CLNDSDB=.;CLNDSDBID=. 10.4255634 618 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 618 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$STAT5A_02 NA NA NA rs6035037 0.24 0.24 0.223 0.2498 0.3151 0.1696 0.2983 0.1573 0.3558 0.31 0.18 0.27 0.16 0.2892 0.31 0.11 T 0.352 B 0.056 B 0.181 N 1.000 P 0.075 N 0.76 T -1.013 T 0.000 T 0.362 2.563 14.53 3.54 0.619 3.120 8.633 2.562631 2.562631 0.1 0.306917 0.167973 ID=COSM443500,COSM443499;OCCURENCE=1(breast) 0.138 NA 10.4221164 618 10 63958112 63958112 T C exonic RTKN2 NA nonsynonymous SNV RTKN2:NM_145307:exon12:c.A1385G:p.H462R exonic ENSG00000182010 NA nonsynonymous SNV ENSG00000182010:ENST00000315289:exon8:c.A791G:p.H264R,ENSG00000182010:ENST00000373789:exon12:c.A1385G:p.H462R,ENSG00000182010:ENST00000395265:exon13:c.A1448G:p.H483R Score=419;Name=lod=67 Name=Rheumatoid arthritis 10q21.2 Score=736;Name=V$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 618 15 89450587 89450587 G T exonic MFGE8 NA nonsynonymous SNV MFGE8:NM_001114614:exon3:c.C226A:p.L76M,MFGE8:NM_005928:exon3:c.C226A:p.L76M exonic ENSG00000140545 NA nonsynonymous SNV ENSG00000140545:ENST00000542878:exon2:c.C94A:p.L32M,ENSG00000140545:ENST00000268150:exon3:c.C226A:p.L76M,ENSG00000140545:ENST00000268151:exon3:c.C226A:p.L76M,ENSG00000140545:ENST00000558029:exon3:c.C226A:p.L76M,ENSG00000140545:ENST00000566497:exon3:c.C226A:p.L76M,ENSG00000140545:ENST00000539437:exon4:c.C202A:p.L68M Score=471;Name=lod=109 NA 15q26.1 NA Name=ERalpha_a NA NA rs1878326 0.61 0.61 0.621 0.638379 0.6372 0.4554 0.6167 0.8011 0.6237 0.63 0.45 0.61 0.76 0.6218 0.78 1 T 0.01 B 0.016 B 0.000 N 0.997 P . . -1.62 D -0.919 T 0.000 T 0.159 -1.772 0.01 4.18 0.319 2.742 8.268 -1.772135 NA 1 0.652361 0.784773 ID=COSM147974;OCCURENCE=1(breast),1(stomach) 0.761 NA 10.4219724 618 6 112493872 112493872 A G exonic LAMA4 NA nonsynonymous SNV LAMA4:NM_001105206:exon12:c.T1492C:p.Y498H,LAMA4:NM_001105207:exon12:c.T1471C:p.Y491H,LAMA4:NM_002290:exon12:c.T1471C:p.Y491H exonic ENSG00000112769 NA nonsynonymous SNV ENSG00000112769:ENST00000424408:exon11:c.T1471C:p.Y491H,ENSG00000112769:ENST00000230538:exon12:c.T1492C:p.Y498H,ENSG00000112769:ENST00000389463:exon12:c.T1471C:p.Y491H,ENSG00000112769:ENST00000522006:exon12:c.T1471C:p.Y491H NA NA 6q21 Score=788;Name=V$PAX2_01 NA Name=18 NA rs1050348 0.73 0.73 0.712 0.758387 0.6501 0.8135 0.7205 0.7799 0.8108 0.63 0.8 0.71 0.79 0.6649 0.8 0.45 T 0.0 B 0.0 B 0.487 N 0.993 P -0.755 N 2.95 T -0.899 T 0.004 T 0.035 -1.58 0.014 4.63 0.799 2.174 4.881 -1.580269 NA 0.76 0.601977 0.740127 NA 0.688 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000037336.1|RCV000126551.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.4163564 619 4 169433327 169433327 G A exonic PALLD NA nonsynonymous SNV PALLD:NM_001166108:exon2:c.G672A:p.M224I,PALLD:NM_016081:exon2:c.G672A:p.M224I exonic ENSG00000129116 NA nonsynonymous SNV ENSG00000129116:ENST00000333488:exon1:c.G303A:p.M101I,ENSG00000129116:ENST00000508898:exon1:c.G609A:p.M203I,ENSG00000129116:ENST00000261509:exon2:c.G672A:p.M224I,ENSG00000129116:ENST00000505667:exon2:c.G672A:p.M224I NA NA 4q32.3 NA Name=CTCF Name=3 NA rs7671781 0.2 0.2 0.213 0.239617 0.33 0.1935 0.1844 0.2368 0.2372 0.27 0.15 0.19 0.18 0.2852 0.31 0.58 T 0.0 B 0.0 B 0.157 N 1.000 P 0 N 0.46 T -1.071 T 0.000 T 0.026 1.434 10.73 -10.8 -4.316 -4.466 2.980 1.433994 1.433994 0.08 0.305116 0.241716 NA NA NA 10.4130174 619 1 204943947 204943947 C A exonic NFASC NA synonymous SNV NFASC:NM_001160331:exon12:c.C1587A:p.V529V,NFASC:NM_001160333:exon13:c.C1536A:p.V512V,NFASC:NM_001005388:exon14:c.C1554A:p.V518V,NFASC:NM_001005389:exon14:c.C1554A:p.V518V,NFASC:NM_001160332:exon14:c.C1587A:p.V529V,NFASC:NM_015090:exon14:c.C1587A:p.V529V exonic ENSG00000163531 NA synonymous SNV ENSG00000163531:ENST00000404907:exon12:c.C1587A:p.V529V,ENSG00000163531:ENST00000430393:exon12:c.C1515A:p.V505V,ENSG00000163531:ENST00000513543:exon12:c.C1587A:p.V529V,ENSG00000163531:ENST00000401399:exon13:c.C1554A:p.V518V,ENSG00000163531:ENST00000404076:exon13:c.C1536A:p.V512V,ENSG00000163531:ENST00000338515:exon14:c.C1554A:p.V518V,ENSG00000163531:ENST00000338586:exon14:c.C1554A:p.V518V,ENSG00000163531:ENST00000339876:exon14:c.C1554A:p.V518V,ENSG00000163531:ENST00000360049:exon14:c.C1587A:p.V529V,ENSG00000163531:ENST00000367169:exon14:c.C1554A:p.V518V,ENSG00000163531:ENST00000367170:exon14:c.C1554A:p.V518V,ENSG00000163531:ENST00000367171:exon14:c.C1554A:p.V518V,ENSG00000163531:ENST00000367172:exon14:c.C1554A:p.V518V,ENSG00000163531:ENST00000403080:exon14:c.C1554A:p.V518V,ENSG00000163531:ENST00000539706:exon14:c.C1587A:p.V529V Score=544;Name=lod=217 NA 1q32.1 Score=908;Name=V$COUP_01 NA NA NA rs2246662 0.47 0.47 0.436 0.467652 0.4125 0.6716 0.5403 0.1952 0.6309 0.43 0.72 0.45 0.23 0.4538 0.72 . . . . . . . . 0.000 P . . . . . . . . . 1.363 10.48 5.8 2.764 1.261 15.348 1.36291 1.36291 NA 0.38814 0.217431 NA 0.319 NA 10.4122266 619 15 40685406 40685406 A T exonic KNSTRN NA nonsynonymous SNV KNSTRN:NM_001142761:exon9:c.A835T:p.N279Y exonic ENSG00000128944 NA nonsynonymous SNV ENSG00000128944:ENST00000416151:exon9:c.A835T:p.N279Y NA NA 15q15.1 NA NA Name=40 NA rs8036457 0.12 0.12 0.127 0.115415 0.1431 0.0129 0.0922 0.1929 0.1043 0.17 0.01 0.1 0.21 0.1319 0.21 0 D 0.965 D 0.663 P . . 1.000 P . . 1.83 T -1.060 T 0.000 T 0.06 2.554 14.5 0.015 -0.014 0.611 5.666 2.553931 2.553931 0 0.146566 0.174745 NA 0.174 NA 10.4117674 619 11 134151975 134151975 G C exonic GLB1L3 NA nonsynonymous SNV GLB1L3:NM_001080407:exon5:c.G488C:p.R163P exonic ENSG00000166105 NA nonsynonymous SNV ENSG00000166105:ENST00000389887:exon5:c.G488C:p.R163P,ENSG00000166105:ENST00000431683:exon5:c.G488C:p.R163P Score=532;Name=lod=194 NA 11q25 NA NA NA NA rs472287 0.83 0.83 0.896 0.907748 0.9871 0.8135 0.8559 0.9766 0.8671 0.9 0.72 0.8 0.86 0.9353 0.92 1 T 0.0 B 0.0 B . . 0.998 P -4.625 N -4.07 D -0.845 T 0.000 T 0.255 0.999 9.081 4.3 1.179 4.974 11.893 0.999372 NA 1 NA NA NA 0.942 NA 10.4109334 619 9 131588888 131588888 G C exonic C9orf114 NA nonsynonymous SNV C9orf114:NM_016390:exon5:c.C389G:p.T130R exonic ENSG00000198917 NA nonsynonymous SNV ENSG00000198917:ENST00000361256:exon5:c.C389G:p.T130R Score=485;Name=lod=125 NA 9q34.11 NA Name=CTCF Name=13 NA rs6478854 0.4 0.4 0.43 0.461462 0.2942 0.3601 0.2536 0.7602 0.4816 0.25 0.36 0.28 0.75 0.3384 0.75 0.53 T 0.0 B 0.002 B . . 1.000 P 1.23 L 1.01 T -0.933 T 0.000 T 0.038 1.264 10.12 -4.31 -0.654 -0.159 1.750 1.263936 1.263936 0.56 0.289884 0.674762 NA 0.428 NA 10.4108494 619 17 7163739 7163739 A G exonic CLDN7 NA nonsynonymous SNV CLDN7:NM_001307:exon4:c.T590C:p.V197A,CLDN7:NM_001185022:exon5:c.T590C:p.V197A exonic ENSG00000181885 NA nonsynonymous SNV ENSG00000181885:ENST00000360325:exon4:c.T590C:p.V197A,ENSG00000181885:ENST00000397317:exon5:c.T590C:p.V197A NA NA 17p13.1 NA Name=Pol2-4H8 NA NA rs4562 0.68 0.68 0.71 0.703674 0.6412 0.6488 0.5937 0.8956 0.6431 0.62 0.66 0.61 0.87 0.6591 0.87 0.57 T 0.0 B 0.0 B 0.505 N 1.000 P -0.93 N -1.75 D -0.952 T 0.000 T 0.023 -1.675 0.012 4.92 1.455 1.686 6.612 -1.674509 NA 0.59 0.622326 0.842034 NA 0.71 NA 10.4107074 619 17 39619094 39619094 T C exonic KRT32 NA nonsynonymous SNV KRT32:NM_002278:exon6:c.A1205G:p.N402S exonic ENSG00000108759 NA nonsynonymous SNV ENSG00000108759:ENST00000225899:exon6:c.A1205G:p.N402S Score=482;Name=lod=121 NA 17q21.2 NA NA NA NA rs2604955 0.55 0.55 0.637 0.615216 0.673 0.6815 0.5706 0.6309 0.498 0.57 0.62 0.47 0.5 0.6164 0.63 1 T 0.001 B 0.003 B 0.000 N 1.000 P -1.225 N -2.27 D -0.974 T 0.000 T 0.023 -0.094 3.542 5.07 1.263 1.910 13.157 -0.093527 NA 1 0.633488 0.618702 NA NA NA 10.4104454 619 1 156640678 156640678 G A exonic NES NA nonsynonymous SNV NES:NM_006617:exon4:c.C3302T:p.P1101L exonic ENSG00000132688 NA nonsynonymous SNV ENSG00000132688:ENST00000368223:exon4:c.C3302T:p.P1101L NA NA 1q23.1 NA Name=ZBTB7A_(SC-34508) NA NA rs2886443 0.65 0.65 0.589 0.622204 0.6481 0.8621 0.67 0.3858 0.6339 0.65 0.85 0.67 0.4 0.6389 0.85 0.85 T 0.001 B 0.0 B 0.627 N 1.000 P 1.78 L -1.91 D -0.989 T 0.191 T 0.048 0.495 6.686 -4.17 -0.966 -3.984 4.053 0.495244 NA 1 0.63595 0.408219 ID=COSM424142;OCCURENCE=1(breast) 0.478 NA 10.4103834 619 1 213068595 213068595 C T exonic FLVCR1 NA nonsynonymous SNV FLVCR1:NM_014053:exon10:c.C1631T:p.T544M exonic ENSG00000162769 NA nonsynonymous SNV ENSG00000162769:ENST00000366971:exon10:c.C1631T:p.T544M NA NA 1q32.3 NA NA NA NA rs3207090 0.39 0.39 0.392 0.379393 0.5 0.4583 0.2781 0.1316 0.5808 0.49 0.48 0.33 0.17 0.4492 0.49 0.04 D 0.863 P 0.198 B 0.159 N 1.000 P 1.7 L -1.63 D -1.009 T 0.000 T 0.196 0.338 5.834 -2.58 -0.118 -0.358 3.348 0.338073 NA 0.03 0.475116 0.208806 ID=COSM1560294;OCCURENCE=1(large_intestine) 0.384 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117088.2;CLNDSDB=.;CLNDSDBID=. 10.4090174 619 9 124855211 124855211 C T exonic TTLL11 NA nonsynonymous SNV TTLL11:NM_001139442:exon1:c.G487A:p.A163T,TTLL11:NM_194252:exon1:c.G487A:p.A163T exonic ENSG00000175764 NA nonsynonymous SNV ENSG00000175764:ENST00000321582:exon1:c.G487A:p.A163T,ENSG00000175764:ENST00000373776:exon1:c.G487A:p.A163T Score=243;Name=lod=13 NA 9q33.2 NA Name=Egr-1,ZBTB7A_(SC-34508) Name=55 NA rs61742319 0.25 0.25 0.284 0.246805 0.3012 0.0645 0.3271 0.3691 0.1564 0.3 0.05 0.3 0.37 0.3747 0.37 . . 0.004 B 0.005 B 0.000 U 0.001 P 0.345 N 3.47 T -0.901 T 0.000 T 0.034 0.608 7.277 -3.49 -0.487 0.583 5.088 0.608368 NA 0.19 0.2488 0.325414 NA 0.261 NA 10.4086334 619 11 64572018 64572018 T C exonic MEN1 NA nonsynonymous SNV MEN1:NM_000244:exon10:c.A1636G:p.T546A,MEN1:NM_130799:exon10:c.A1621G:p.T541A,MEN1:NM_130800:exon10:c.A1636G:p.T546A,MEN1:NM_130801:exon10:c.A1636G:p.T546A,MEN1:NM_130802:exon10:c.A1636G:p.T546A,MEN1:NM_130803:exon10:c.A1636G:p.T546A,MEN1:NM_130804:exon11:c.A1636G:p.T546A exonic ENSG00000133895 NA nonsynonymous SNV ENSG00000133895:ENST00000377316:exon8:c.A1456G:p.T486A,ENSG00000133895:ENST00000377313:exon9:c.A1636G:p.T546A,ENSG00000133895:ENST00000377326:exon9:c.A1621G:p.T541A,ENSG00000133895:ENST00000312049:exon10:c.A1621G:p.T541A,ENSG00000133895:ENST00000315422:exon10:c.A1621G:p.T541A,ENSG00000133895:ENST00000337652:exon10:c.A1636G:p.T546A,ENSG00000133895:ENST00000377321:exon10:c.A1516G:p.T506A,ENSG00000133895:ENST00000394374:exon10:c.A1636G:p.T546A,ENSG00000133895:ENST00000443283:exon10:c.A1636G:p.T546A,ENSG00000133895:ENST00000394376:exon11:c.A1636G:p.T546A NA NA 11q13.1 Score=713;Name=V$NRSF_01 Name=CTCF NA NA rs2959656 0.85 0.85 0.835 0.834465 0.9911 0.6964 0.902 0.6664 0.9949 0.99 0.73 0.9 0.71 0.9378 1 0.93 T 0.0 B 0.0 B 0.231 N 1.000 P -0.345 N -5.71 D -0.936 T 0.000 T 0.05 -1.705 0.011 3.35 0.982 0.131 5.500 -1.705252 NA 1 0.995927 0.737619 ID=COSM255213;OCCURENCE=1(lung) 0.826 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=mult|single;CLNACC=RCV000034785.2|RCV000082334.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.4085064 619 11 66105194 66105194 G A exonic BRMS1 NA nonsynonymous SNV BRMS1:NM_001024957:exon10:c.C818T:p.A273V exonic ENSG00000174744 NA nonsynonymous SNV ENSG00000174744:ENST00000425825:exon10:c.C818T:p.A273V NA NA 11q13.2 NA NA Name=39 NA rs1052566 0.23 0.23 0.202 0.266773 0.2714 0.3284 0.2161 0.034 0.5491 0.28 0.33 0.24 0.04 0.3557 0.33 0.29 T 0.0 B 0.0 B . . 1.000 P -1.1 N . . -0.930 T 0.000 T 0.151 -0.491 1.743 -4.24 -0.973 -0.952 4.699 -0.491122 NA 0.65 0.29837 0.080983 NA 0.268 NA 10.4078634 619 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=JunD,PRDM1_(Val90) 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 619 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 619 1 161068836 161068836 A C exonic KLHDC9 NA nonsynonymous SNV KLHDC9:NM_001007255:exon1:c.A511C:p.S171R,KLHDC9:NM_152366:exon1:c.A511C:p.S171R exonic ENSG00000162755 NA nonsynonymous SNV ENSG00000162755:ENST00000368011:exon1:c.A511C:p.S171R,ENSG00000162755:ENST00000392192:exon1:c.A511C:p.S171R NA NA 1q23.3 NA Name=Pol2-4H8 NA NA rs11576830 0.29 0.29 0.25 0.239217 0.339 0.371 0.2968 0.0666 0.1933 0.34 0.4 0.29 0.09 0.306 0.4 0.53 T 0.0 B 0.001 B 0.798 N 1.000 P 0.205 N -0.22 T -1.097 T 0.064 T 0.057 -0.756 0.798 -7.07 -0.975 -1.087 8.466 -0.756295 NA 0.47 0.282309 0.092711 ID=COSM424364,COSM424365;OCCURENCE=2(breast) 0.29 NA 10.4060244 619 1 196659237 196659237 C T exonic CFH NA nonsynonymous SNV CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y exonic ENSG00000000971 NA nonsynonymous SNV ENSG00000000971:ENST00000359637:exon8:c.C1012T:p.H338Y,ENSG00000000971:ENST00000367429:exon9:c.C1204T:p.H402Y,ENSG00000000971:ENST00000439155:exon9:c.C1204T:p.H402Y NA Name=Age-related macular degeneration (CNV),Age-related macular degeneration (GA),Age-related macular degeneration 1q31.3 NA NA NA NA rs1061170 0.72 0.72 0.683 0.733427 0.6382 0.9514 0.7666 0.6377 0.7127 0.63 0.93 0.73 0.62 0.6721 0.93 1 T 0.0 B 0.001 B . . 1.000 P . . -0.03 T -1.007 T 0.000 T 0.041 -2.252 0.004 -9.09 -4.010 -6.715 2.071 -2.252215 NA 1 0.617674 0.637313 ID=COSM424915;OCCURENCE=1(breast) 0.63 CLINSIG=other|pathogenic;CLNDBN=Age-related_macular_degeneration_4|Basal_laminar_drusen;CLNREVSTAT=single|single;CLNACC=RCV000018015.1|RCV000018016.26;CLNDSDB=MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C1853147:610698|C0730295:126700:ORPHA75376:312926005 10.4053594 620 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 620 1 216219781 216219781 A G exonic USH2A NA nonsynonymous SNV USH2A:NM_206933:exon32:c.T6317C:p.I2106T exonic ENSG00000042781 NA nonsynonymous SNV ENSG00000042781:ENST00000307340:exon32:c.T6317C:p.I2106T,ENSG00000042781:ENST00000366943:exon32:c.T6317C:p.I2106T NA NA 1q41 Score=794;Name=V$TCF11MAFG_01 NA Name=12 NA rs6657250 0.62 0.62 0.632 0.595647 0.6551 0.4544 0.4669 0.7965 0.5 0.65 0.45 0.53 0.81 0.6069 0.81 0.56 T 0.0 B 0.0 B 0.162 N 0.399 P -1.5 N 0.78 T -0.969 T 0.000 T 0.067 -1.965 0.007 5.42 1.442 0.988 5.369 -1.964884 NA 0.8 0.669535 0.760781 ID=COSM146769;OCCURENCE=1(stomach) 0.5 NA 10.4017984 620 17 73949540 73949540 G C exonic ACOX1 NA nonsynonymous SNV ACOX1:NM_001185039:exon7:c.C822G:p.I274M,ACOX1:NM_004035:exon7:c.C936G:p.I312M,ACOX1:NM_007292:exon7:c.C936G:p.I312M exonic ENSG00000161533 NA nonsynonymous SNV ENSG00000161533:ENST00000293217:exon7:c.C936G:p.I312M,ENSG00000161533:ENST00000301608:exon7:c.C936G:p.I312M,ENSG00000161533:ENST00000537812:exon7:c.C822G:p.I274M Score=517;Name=lod=169 NA 17q25.1 NA NA NA NA rs1135640 0.57 0.57 0.511 0.550719 0.6402 0.7877 0.6729 0.1589 0.6575 0.66 0.76 0.63 0.17 0.6424 0.76 0.21 T 0.007 B 0.004 B 0.000 D 0.002 P 0.855 L -0.47 T -0.914 T 0.000 T 0.251 2.157 13.17 5.2 2.941 1.086 7.546 2.156848 2.156848 0.58 0.64907 0.23468 NA 0.609 NA 10.4016634 620 9 135203231 135203231 C T exonic SETX NA nonsynonymous SNV SETX:NM_015046:exon10:c.G3754A:p.G1252R exonic ENSG00000107290 NA nonsynonymous SNV ENSG00000107290:ENST00000224140:exon10:c.G3754A:p.G1252R,ENSG00000107290:ENST00000372169:exon10:c.G3754A:p.G1252R,ENSG00000107290:ENST00000393220:exon10:c.G3754A:p.G1252R Score=284;Name=lod=19 NA 9q34.13 NA NA NA NA rs1183768 0.59 0.59 0.52 0.55611 0.8618 0.3621 0.7723 0.3056 0.6268 0.86 0.33 0.77 0.33 0.7251 0.86 0.57 T 0.796 P 0.403 B 0.563 N 0.379 P 1.67 L -1.72 D -0.933 T 0.000 T 0.246 0.882 8.578 4.72 2.741 0.490 13.611 0.88167 NA 0.19 0.845 0.396505 ID=COSM150733;OCCURENCE=1(stomach) 0.645 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081695.3;CLNDSDB=.;CLNDSDBID=. 10.4014334 620 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 620 1 182569626 182569626 T C exonic RGS16 NA nonsynonymous SNV RGS16:NM_002928:exon5:c.A410G:p.H137R exonic ENSG00000143333 NA nonsynonymous SNV ENSG00000143333:ENST00000367558:exon5:c.A410G:p.H137R Score=509;Name=lod=156 NA 1q25.3 Score=787;Name=V$COMP1_01 Name=Pol2-4H8 NA NA rs1144566 0.99 0.99 0.989 0.986022 0.9781 1 0.9856 0.9766 0.9928 0.98 1 0.99 0.98 0.9824 1 1 T 0.0 B 0.0 B 0.000 N 0.999 P -3.235 N 1.9 T -0.948 T 0.000 T 0.089 -0.659 1.109 5.3 1.253 3.062 13.828 -0.658652 NA 1 0.972442 0.980027 NA 0.993 NA 10.4003914 620 19 9083143 9083143 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon1:c.C8672T:p.T2891I exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon1:c.C8672T:p.T2891I NA NA 19p13.2 NA NA NA NA rs7245949 0.22 0.22 0.209 0.226438 0.3111 0.0228 0.2983 0.27 0.2393 0.31 0.02 0.31 0.26 0.2933 0.33 0 D 0.991 D 0.934 D . . . . 0 N 4.28 T -0.820 T 0.000 T 0.066 -0.579 1.396 0.773 0.680 1.193 4.823 -0.579371 NA 0 0.330022 0.265526 NA 0.268 NA 10.3989114 621 12 53069014 53069014 T C exonic KRT1 NA nonsynonymous SNV KRT1:NM_006121:exon9:c.A1898G:p.K633R exonic ENSG00000167768 NA nonsynonymous SNV ENSG00000167768:ENST00000252244:exon9:c.A1898G:p.K633R Score=358;Name=lod=38 NA 12q13.13 NA NA NA NA rs14024 0.33 0.33 0.306 0.275559 0.331 0.5784 0.2478 0.0219 0.2689 0.34 0.6 0.28 0.03 0.3051 0.6 1 T 0.331 B 0.078 B . . 0.984 P 0 N -1.78 D -0.944 T 0.000 T 0.094 0.547 6.961 2.33 0.533 1.269 4.743 0.547217 NA 1 0.302907 0.068089 NA 0.319 NA 10.3943264 621 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 621 4 88732692 88732692 G A exonic IBSP NA nonsynonymous SNV IBSP:NM_004967:exon7:c.G584A:p.G195E exonic ENSG00000029559 NA nonsynonymous SNV ENSG00000029559:ENST00000226284:exon7:c.G584A:p.G195E NA Name=Bone mineral density 4q22.1 NA NA NA NA rs1054627 0.19 0.19 0.158 0.190495 0.328 0.1062 0.2781 0.0189 0.3057 0.32 0.1 0.27 0.02 0.2932 0.32 0.67 T 0.232 B 0.206 B 0.018 N 1.000 P 2.34 M 2.46 T -0.975 T 0.000 T 0.061 0.096 4.52 2.19 1.105 0.539 6.240 0.096488 NA 0.92 0.320465 0.065138 NA 0.116 NA 10.3916684 621 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 621 2 179644035 179644035 G A exonic TTN NA nonsynonymous SNV TTN:NM_003319:exon22:c.C3746T:p.S1249L,TTN:NM_133432:exon22:c.C3746T:p.S1249L,TTN:NM_133437:exon22:c.C3746T:p.S1249L,TTN:NM_001256850:exon23:c.C3884T:p.S1295L,TTN:NM_001267550:exon23:c.C3884T:p.S1295L,TTN:NM_133378:exon23:c.C3884T:p.S1295L,TTN:NM_133379:exon23:c.C3884T:p.S1295L exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000342175:exon22:c.C3746T:p.S1249L,ENSG00000155657:ENST00000359218:exon22:c.C3746T:p.S1249L,ENSG00000155657:ENST00000460472:exon22:c.C3746T:p.S1249L,ENSG00000155657:ENST00000342992:exon23:c.C3884T:p.S1295L,ENSG00000155657:ENST00000360870:exon23:c.C3884T:p.S1295L,ENSG00000155657:ENST00000589042:exon23:c.C3884T:p.S1295L,ENSG00000155657:ENST00000591111:exon23:c.C3884T:p.S1295L Score=619;Name=lod=439 NA 2q31.2 NA NA NA NA rs1552280 0.93 0.93 0.915 0.920128 0.992 0.8829 0.9496 0.8495 0.9591 0.99 0.87 0.94 0.88 0.9606 0.99 0 D 0.0 B 0.0 B . . 0.999 P 0.355 N -0.27 T -0.961 T 0.000 T 0.093 2.314 13.7 5.72 1.008 6.248 11.842 2.314358 2.314358 0.35 0.991393 0.871766 NA 0.913 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040271.2|RCV000126009.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.3893404 621 5 150942969 150942969 G A exonic FAT2 NA nonsynonymous SNV FAT2:NM_001447:exon2:c.C3491T:p.P1164L exonic ENSG00000086570 NA nonsynonymous SNV ENSG00000086570:ENST00000261800:exon2:c.C3491T:p.P1164L Score=355;Name=lod=37 NA 5q33.1 Score=796;Name=V$ARP1_01 NA NA NA rs2304053 0.39 0.39 0.382 0.363618 0.4851 0.3135 0.4308 0.2965 0.3333 0.48 0.31 0.42 0.32 0.4447 0.51 0.34 T 0.752 P 0.366 B 0.004 N 0.000 P 1.31 L 0.17 T -0.894 T 0.000 T 0.095 2.262 13.52 2.07 0.646 2.295 7.468 2.262454 2.262454 0.38 0.514651 0.330232 NA 0.348 NA 10.3888824 621 12 48736985 48736985 T G exonic ZNF641 NA nonsynonymous SNV ZNF641:NM_001172682:exon5:c.A1019C:p.Q340P,ZNF641:NM_001172681:exon6:c.A1046C:p.Q349P,ZNF641:NM_152320:exon7:c.A1088C:p.Q363P exonic ENSG00000167528 NA nonsynonymous SNV ENSG00000167528:ENST00000448928:exon5:c.A1019C:p.Q340P,ENSG00000167528:ENST00000544117:exon6:c.A1088C:p.Q363P,ENSG00000167528:ENST00000547026:exon6:c.A1046C:p.Q349P,ENSG00000167528:ENST00000301042:exon7:c.A1088C:p.Q363P NA NA 12q13.11 NA NA NA NA rs2732481 0.15 0.15 0.134 0.16873 0.325 0.0109 0.1859 0.0189 0.3609 0.32 0.01 0.21 0.03 0.2812 0.34 0 D 0.396 B 0.133 B 0.005 N 1.000 P 2.45 M 3.3 T -0.919 T 0.000 T 0.249 2.493 14.3 3.04 2.191 0.062 3.695 2.493219 2.493219 0.06 0.338256 0.062415 NA 0.261 NA 10.3888774 621 7 143017807 143017807 G T exonic CLCN1 NA nonsynonymous SNV CLCN1:NM_000083:exon3:c.G352T:p.G118W exonic ENSG00000188037 NA nonsynonymous SNV ENSG00000188037:ENST00000343257:exon3:c.G352T:p.G118W Score=626;Name=lod=468 NA 7q34 NA Name=STAT1,AP-2alpha,AP-2gamma Name=11 NA rs10282312 0.99 0.99 0.988 0.99361 0.9841 1 0.9827 0.9985 0.998 0.98 1 0.98 1 0.9861 1 1 T 0.0 B 0.0 B 0.000 N 0.976 P -2.785 N -2.92 D -0.925 T 0.000 T 0.396 0.305 5.652 4.99 0.769 5.971 9.970 0.304923 NA 1 0.975 0.995234 NA 0.993 NA 10.3881334 621 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=NRSF,ZNF263 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 621 3 56650012 56650012 G C exonic CCDC66 NA nonsynonymous SNV CCDC66:NM_001012506:exon13:c.G1672C:p.E558Q,CCDC66:NM_001141947:exon13:c.G1774C:p.E592Q exonic ENSG00000180376 NA nonsynonymous SNV ENSG00000180376:ENST00000422222:exon12:c.G1642C:p.E548Q,ENSG00000180376:ENST00000326595:exon13:c.G1672C:p.E558Q,ENSG00000180376:ENST00000394672:exon13:c.G1774C:p.E592Q,ENSG00000180376:ENST00000436465:exon13:c.G1774C:p.E592Q NA NA 3p14.3 NA NA NA NA rs4681904 0.28 0.28 0.262 0.310104 0.1223 0.375 0.183 0.4138 0.3865 0.12 0.37 0.19 0.49 0.2006 0.49 0.37 T 0.496 P 0.178 B 0.054 N 0.999 P 1.445 L 1.89 T -0.902 T 0.000 T 0.53 2.135 13.09 3.71 1.511 2.381 9.707 2.134654 2.134654 0.17 0.123893 0.386745 NA 0.297 NA 10.3865404 621 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 622 1 231830295 231830295 G A exonic DISC1 NA nonsynonymous SNV DISC1:NM_001012957:exon2:c.G791A:p.R264Q,DISC1:NM_001012958:exon2:c.G791A:p.R264Q,DISC1:NM_001012959:exon2:c.G791A:p.R264Q,DISC1:NM_001164537:exon2:c.G791A:p.R264Q,DISC1:NM_001164538:exon2:c.G791A:p.R264Q,DISC1:NM_001164539:exon2:c.G791A:p.R264Q,DISC1:NM_001164540:exon2:c.G791A:p.R264Q,DISC1:NM_001164541:exon2:c.G791A:p.R264Q,DISC1:NM_001164542:exon2:c.G791A:p.R264Q,DISC1:NM_001164544:exon2:c.G791A:p.R264Q,DISC1:NM_001164545:exon2:c.G791A:p.R264Q,DISC1:NM_001164546:exon2:c.G791A:p.R264Q,DISC1:NM_001164547:exon2:c.G791A:p.R264Q,DISC1:NM_001164548:exon2:c.G791A:p.R264Q,DISC1:NM_001164549:exon2:c.G791A:p.R264Q,DISC1:NM_001164550:exon2:c.G791A:p.R264Q,DISC1:NM_001164551:exon2:c.G791A:p.R264Q,DISC1:NM_001164552:exon2:c.G791A:p.R264Q,DISC1:NM_001164553:exon2:c.G791A:p.R264Q,DISC1:NM_001164554:exon2:c.G791A:p.R264Q,DISC1:NM_001164555:exon2:c.G791A:p.R264Q,DISC1:NM_018662:exon2:c.G791A:p.R264Q exonic ENSG00000162946 NA nonsynonymous SNV ENSG00000162946:ENST00000295051:exon2:c.G791A:p.R264Q,ENSG00000162946:ENST00000317586:exon2:c.G791A:p.R264Q,ENSG00000162946:ENST00000366632:exon2:c.G791A:p.R264Q,ENSG00000162946:ENST00000366633:exon2:c.G791A:p.R264Q,ENSG00000162946:ENST00000366636:exon2:c.G791A:p.R264Q,ENSG00000162946:ENST00000439617:exon2:c.G791A:p.R264Q,ENSG00000162946:ENST00000535944:exon2:c.G791A:p.R264Q,ENSG00000162946:ENST00000535983:exon2:c.G791A:p.R264Q,ENSG00000162946:ENST00000537876:exon2:c.G791A:p.R264Q,ENSG00000162946:ENST00000539444:exon2:c.G791A:p.R264Q,ENSG00000162946:ENST00000602281:exon2:c.G791A:p.R264Q,ENSG00000162946:ENST00000602700:exon2:c.G791A:p.R264Q,ENSG00000162946:ENST00000602713:exon2:c.G791A:p.R264Q,ENSG00000162946:ENST00000602822:exon2:c.G791A:p.R264Q NA NA 1q42.2 NA NA NA NA rs3738401 0.28 0.28 0.268 0.232228 0.339 0.2173 0.3329 0.1172 0.2219 0.34 0.26 0.39 0.14 0.2923 0.39 0.34 T 0.181 B 0.007 B 0.093 N 1.000 P -0.895 N 1.84 T -0.991 T 0.000 T 0.042 1.166 9.745 -9.87 -3.304 -1.466 1.752 1.165955 NA 0.35 0.317907 0.147072 NA 0.261 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000084637.1;CLNDSDB=.;CLNDSDBID=. 10.3841264 622 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 622 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 622 2 241828034 241828034 A G exonic C2orf54 NA nonsynonymous SNV C2orf54:NM_001085437:exon4:c.T926C:p.L309P,C2orf54:NM_024861:exon4:c.T422C:p.L141P exonic ENSG00000172478 NA nonsynonymous SNV ENSG00000172478:ENST00000307486:exon4:c.T479C:p.L160P,ENSG00000172478:ENST00000388934:exon4:c.T926C:p.L309P,ENSG00000172478:ENST00000402775:exon4:c.T422C:p.L141P Score=313;Name=lod=25 NA 2q37.3 NA Name=CTCF_(SC-5916),CTCF Name=3 NA rs6707568 0.98 0.98 0.994 0.988219 0.9911 1 0.9885 1 0.9571 0.97 0.99 0.97 1 0.9795 1 0 D 0.0 B 0.0 B 0.000 N 0.081 P -2.175 N 3.59 T -0.902 T 0.000 T 0.076 -1.682 0.012 4.19 0.768 4.294 10.464 -1.682303 NA 1 0.980737 0.998548 NA 0.123 NA 10.3819964 622 2 233349588 233349588 G A exonic ECEL1 NA nonsynonymous SNV ECEL1:NM_004826:exon5:c.C982T:p.H328Y exonic ENSG00000171551 NA nonsynonymous SNV ENSG00000171551:ENST00000409941:exon4:c.C982T:p.H328Y,ENSG00000171551:ENST00000304546:exon5:c.C982T:p.H328Y Score=391;Name=lod=52 NA 2q37.1 Score=862;Name=V$YY1_01 NA NA NA rs1529874 0.97 0.97 0.964 0.96266 0.9831 1 0.9827 0.882 0.998 0.98 1 0.99 0.88 0.9832 1 0.52 T 0.0 B 0.0 B 0.000 N 1.000 P -0.69 N -1.55 D -0.953 T 0.000 T 0.07 -1.066 0.177 4.88 0.813 5.860 10.550 -1.066221 NA 1 0.985465 0.904448 NA 0.964 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116938.1;CLNDSDB=.;CLNDSDBID=. 10.3815684 622 1 93672723 93672723 A C exonic CCDC18 NA nonsynonymous SNV CCDC18:NM_206886:exon9:c.A977C:p.N326T exonic ENSG00000122483 NA nonsynonymous SNV ENSG00000122483:ENST00000455267:exon2:c.A137C:p.N46T,ENSG00000122483:ENST00000338949:exon9:c.A374C:p.N125T,ENSG00000122483:ENST00000343253:exon9:c.A977C:p.N326T,ENSG00000122483:ENST00000401026:exon9:c.A977C:p.N326T,ENSG00000122483:ENST00000557479:exon9:c.A1331C:p.N444T Score=521;Name=lod=174 NA 1p22.1 NA NA NA NA rs2815413 0.75 0.75 0.684 0.748003 0.8052 0.9623 0.8415 0.3313 0.9652 0.82 0.96 0.84 0.34 0.8245 0.96 0.47 T 0.649 P 0.359 B 0.000 D 0.000 P 1.905 M 2.31 T -1.032 T 0.021 T 0.136 2.211 13.35 4.58 0.915 1.754 8.460 2.210835 2.210835 0.18 0.822086 0.42314 NA 0.703 NA 10.3815474 622 11 128782012 128782012 C G exonic KCNJ5 NA nonsynonymous SNV KCNJ5:NM_000890:exon2:c.C844G:p.Q282E exonic ENSG00000120457 NA nonsynonymous SNV ENSG00000120457:ENST00000533599:exon1:c.C844G:p.Q282E,ENSG00000120457:ENST00000529694:exon2:c.C844G:p.Q282E,ENSG00000120457:ENST00000338350:exon3:c.C844G:p.Q282E Score=649;Name=lod=579 NA 11q24.3 Score=908;Name=V$CDPCR3HD_01 NA NA NA rs7102584 0.99 0.99 0.992 0.995008 0.9841 1 0.9942 0.9977 0.998 0.98 1 0.99 0.99 0.9865 1 1 T 0.0 B 0.0 B 0.000 N 0.997 P -1.825 N -2.58 D -0.907 T 0.000 T 0.022 0.302 5.635 5.46 1.316 6.844 16.452 0.3019 NA 1 0.981964 0.997047 NA 1 NA 10.3807694 622 6 130374102 130374102 C A exonic L3MBTL3 NA nonsynonymous SNV L3MBTL3:NM_001007102:exon6:c.C473A:p.T158N,L3MBTL3:NM_032438:exon7:c.C548A:p.T183N exonic ENSG00000198945 NA nonsynonymous SNV ENSG00000198945:ENST00000368139:exon5:c.C473A:p.T158N,ENSG00000198945:ENST00000526019:exon6:c.C473A:p.T158N,ENSG00000198945:ENST00000533560:exon6:c.C473A:p.T158N,ENSG00000198945:ENST00000361794:exon7:c.C548A:p.T183N,ENSG00000198945:ENST00000368136:exon7:c.C548A:p.T183N,ENSG00000198945:ENST00000528385:exon7:c.C548A:p.T183N,ENSG00000198945:ENST00000529410:exon9:c.C548A:p.T183N Score=403;Name=lod=58 NA 6q23.1 Score=764;Name=V$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 622 2 88895123 88895123 T C exonic EIF2AK3 NA nonsynonymous SNV EIF2AK3:NM_004836:exon3:c.A497G:p.Q166R exonic ENSG00000172071 NA nonsynonymous SNV ENSG00000172071:ENST00000415570:exon2:c.A134G:p.Q45R,ENSG00000172071:ENST00000303236:exon3:c.A497G:p.Q166R,ENSG00000172071:ENST00000419748:exon3:c.A44G:p.Q15R Score=644;Name=lod=551 NA 2p11.2 NA NA NA NA rs13045 0.65 0.65 0.694 0.648962 0.6481 0.4663 0.6052 0.8949 0.5368 0.65 0.48 0.6 0.89 0.6379 0.89 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.24 N 1.63 T -0.950 T 0.000 T 0.117 1.712 11.68 6.16 1.638 5.497 15.877 1.712302 1.712302 0.88 0.668023 0.864957 NA 0.746 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116970.2;CLNDSDB=.;CLNDSDBID=. 10.3793104 622 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 622 8 87666251 87666251 T G exonic CNGB3 NA nonsynonymous SNV CNGB3:NM_019098:exon7:c.A892C:p.T298P exonic ENSG00000170289 NA nonsynonymous SNV ENSG00000170289:ENST00000320005:exon7:c.A892C:p.T298P Score=470;Name=lod=108 NA 8q21.3 NA NA NA NA rs4961206 0.66 0.66 0.674 0.679712 0.6451 0.7827 0.5706 0.618 0.7699 0.64 0.82 0.58 0.57 0.6657 0.82 0.36 T 0.005 B 0.012 B 0.038 N 0.958 P 1.125 L 0.71 T -0.970 T 0.000 T 0.245 1.516 11.02 4.23 2.035 1.787 5.586 1.515835 1.515835 0.27 0.645615 0.63079 NA 0.652 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081979.1;CLNDSDB=.;CLNDSDBID=. 10.3769184 623 20 36869516 36869516 C A exonic KIAA1755 NA nonsynonymous SNV KIAA1755:NM_001029864:exon3:c.G1017T:p.K339N exonic ENSG00000149633 NA nonsynonymous SNV ENSG00000149633:ENST00000279024:exon3:c.G1017T:p.K339N NA NA 20q11.23 NA NA NA NA rs1205434 0.27 0.27 0.272 0.257788 0.3201 0.2679 0.2262 0.1808 0.3098 0.34 0.26 0.23 0.21 0.3077 0.34 0.03 D 0.013 B 0.01 B 0.091 N 0.989 P 1.935 M -0.05 T -1.043 T 0.000 T 0.015 2.986 15.96 3.13 1.403 0.488 7.986 2.985908 2.985908 0.06 0.330698 0.201089 NA 0.275 NA 10.3748354 623 2 202264156 202264156 C T exonic TRAK2 NA nonsynonymous SNV TRAK2:NM_015049:exon5:c.G424A:p.V142I exonic ENSG00000115993 NA nonsynonymous SNV ENSG00000115993:ENST00000332624:exon5:c.G424A:p.V142I,ENSG00000115993:ENST00000430254:exon5:c.G424A:p.V142I Score=629;Name=lod=482 NA 2q33.1 Score=937;Name=V$GATA_C NA NA NA rs13022344 0.53 0.53 0.503 0.539337 0.663 0.4911 0.5634 0.3495 0.7014 0.67 0.48 0.55 0.34 0.6229 0.67 0.22 T 0.003 B 0.008 B 0.015 N 0.000 P 0.695 N 2.19 T -0.988 T 0.000 T 0.061 2.059 12.84 5.2 1.580 2.282 6.063 2.058989 2.058989 0.19 0.672907 0.374035 NA 0.536 NA 10.3745264 623 11 57155001 57155001 G A exonic PRG2 NA nonsynonymous SNV PRG2:NM_001243245:exon6:c.C583T:p.H195Y,PRG2:NM_002728:exon6:c.C616T:p.H206Y exonic ENSG00000186652 NA nonsynonymous SNV ENSG00000186652:ENST00000311862:exon6:c.C616T:p.H206Y,ENSG00000186652:ENST00000525955:exon6:c.C616T:p.H206Y,ENSG00000186652:ENST00000533605:exon6:c.C583T:p.H195Y Score=333;Name=lod=30 NA 11q12.1 NA Name=CTCF_(C-20),CTCF,Rad21 Name=35 NA rs536455 0.9 0.9 0.9 0.884984 0.997 0.996 0.9697 0.5908 0.9928 1 1 0.96 0.6 0.9674 1 0.33 T 0.531 P 0.479 P 0.258 N 1.000 P 1.035 L 2.21 T -0.973 T 0.000 T 0.114 1.588 11.27 3.03 0.463 0.974 6.829 1.587838 1.587838 0.38 0.997905 0.648114 NA 0.855 NA 10.3710284 623 3 15276541 15276541 A G exonic CAPN7 NA synonymous SNV CAPN7:NM_014296:exon12:c.A1296G:p.K432K exonic ENSG00000131375 NA synonymous SNV ENSG00000131375:ENST00000253693:exon12:c.A1296G:p.K432K Score=544;Name=lod=216 NA 3p25.1 NA NA NA NA rs17539942 0.06 0.06 0.045 0.0511182 0.1034 NA 0.0908 0.0091 0.0787 0.1 NA 0.11 0.01 0.0883 0.11 . . . . . . . . 0.000 P . . . . -1.003 T 0.005 T . 1.121 9.571 4.53 0.975 1.407 9.650 1.121003 NA NA 0.106628 0.029051 NA 0.014 NA 10.3683386 623 12 120172173 120172173 G A intronic CIT NA NA NA exonic ENSG00000122966 NA nonsynonymous SNV ENSG00000122966:ENST00000546026:exon4:c.C146T:p.T49I Score=531;Name=lod=192 NA 12q24.23 Score=873;Name=V$OCT_C NA NA NA rs11064891 0.18 0.18 0.206 0.176118 0.2843 0.0109 0.1902 0.2186 0.1677 0.28 0.01 0.19 0.23 0.2274 0.29 . . . . . . . . 0.000 P . . . . -0.993 T 0.000 T 0.048 1.177 9.787 4.49 1.263 2.728 7.086 1.176926 NA NA 0.288023 0.225601 NA 0.254 NA 10.3669437 623 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 623 1 40098328 40098328 T C exonic HEYL NA nonsynonymous SNV HEYL:NM_014571:exon2:c.A140G:p.H47R exonic ENSG00000163909 NA nonsynonymous SNV ENSG00000163909:ENST00000372852:exon2:c.A140G:p.H47R,ENSG00000163909:ENST00000535435:exon2:c.A56G:p.H19R Score=535;Name=lod=200 NA 1p34.3 NA NA Name=4 NA rs784625 0.99 0.99 0.993 0.989217 0.9891 0.999 0.9942 1 0.9611 0.99 1 0.99 1 0.9887 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.815 N -4.55 D -0.915 T 0.000 T 0.237 0.837 8.378 4.16 1.350 4.840 8.261 0.836927 NA 1 0.989651 0.998184 NA 1 NA 10.3658824 624 12 53682457 53682457 G A exonic ESPL1 NA nonsynonymous SNV ESPL1:NM_012291:exon20:c.G4682A:p.R1561Q exonic ENSG00000135476 NA nonsynonymous SNV ENSG00000135476:ENST00000257934:exon20:c.G4682A:p.R1561Q,ENSG00000135476:ENST00000552462:exon20:c.G4682A:p.R1561Q NA NA 12q13.13 NA NA NA NA rs56358776 0.29 0.29 0.271 0.23762 0.341 0.1319 0.3386 0.2632 0.1339 0.36 0.17 0.34 0.28 0.2897 0.36 0.56 T 0.0 B 0.0 B 0.232 N 1.000 P 1.95 M 2.76 T -0.942 T 0.000 T 0.037 0.372 6.02 -7.11 -1.910 -2.550 9.716 0.372128 NA 0.13 0.337753 0.286655 NA 0.377 NA 10.3648804 624 6 152540278 152540278 A C exonic SYNE1 NA nonsynonymous SNV SYNE1:NM_033071:exon119:c.T21691G:p.F7231V,SYNE1:NM_182961:exon120:c.T21904G:p.F7302V exonic ENSG00000131018 NA nonsynonymous SNV ENSG00000131018:ENST00000367251:exon5:c.T670G:p.F224V,ENSG00000131018:ENST00000356820:exon35:c.T5476G:p.F1826V,ENSG00000131018:ENST00000423061:exon119:c.T21691G:p.F7231V,ENSG00000131018:ENST00000265368:exon120:c.T21904G:p.F7302V,ENSG00000131018:ENST00000367255:exon120:c.T21904G:p.F7302V,ENSG00000131018:ENST00000448038:exon120:c.T21691G:p.F7231V,ENSG00000131018:ENST00000341594:exon121:c.T20740G:p.F6914V Score=409;Name=lod=61 NA 6q25.2 NA Name=FOXA1_(C-20),GATA3_(SC-268) Name=4 NA rs2147377 0.99 0.99 0.997 0.995607 0.9861 1 0.9899 0.9992 1 0.98 1 0.99 1 0.9923 1 0.55 T 0.0 B 0.0 B 0.003 N 0.000 P -1.935 N 2.82 T -0.974 T 0.009 T 0.1 -1.315 0.034 3.99 0.367 1.349 5.983 -1.31489 NA 0.59 0.990116 0.998865 NA 0.986 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118459.2;CLNDSDB=.;CLNDSDBID=. 10.3648174 624 1 236700807 236700807 T A exonic LGALS8 NA nonsynonymous SNV LGALS8:NM_201544:exon3:c.T56A:p.F19Y,LGALS8:NM_006499:exon4:c.T56A:p.F19Y,LGALS8:NM_201543:exon4:c.T56A:p.F19Y,LGALS8:NM_201545:exon4:c.T56A:p.F19Y exonic ENSG00000116977 NA nonsynonymous SNV ENSG00000116977:ENST00000525042:exon2:c.T56A:p.F19Y,ENSG00000116977:ENST00000238181:exon3:c.T56A:p.F19Y,ENSG00000116977:ENST00000323938:exon3:c.T56A:p.F19Y,ENSG00000116977:ENST00000366584:exon3:c.T56A:p.F19Y,ENSG00000116977:ENST00000416919:exon3:c.T56A:p.F19Y,ENSG00000116977:ENST00000442397:exon3:c.T56A:p.F19Y,ENSG00000116977:ENST00000526634:exon3:c.T56A:p.F19Y,ENSG00000116977:ENST00000527974:exon3:c.T56A:p.F19Y,ENSG00000116977:ENST00000341872:exon4:c.T56A:p.F19Y,ENSG00000116977:ENST00000352231:exon4:c.T56A:p.F19Y,ENSG00000116977:ENST00000430527:exon4:c.T56A:p.F19Y,ENSG00000116977:ENST00000450372:exon4:c.T56A:p.F19Y,ENSG00000116977:ENST00000481485:exon4:c.T56A:p.F19Y,ENSG00000116977:ENST00000529489:exon4:c.T56A:p.F19Y,ENSG00000116977:ENST00000454943:exon5:c.T56A:p.F19Y,ENSG00000116977:ENST00000406509:exon6:c.T56A:p.F19Y,ENSG00000116977:ENST00000526589:exon6:c.T56A:p.F19Y Score=463;Name=lod=102 NA 1q43 NA Name=MafK_(ab50322) NA NA rs1126407 0.56 0.56 0.533 0.4998 0.6759 0.4762 0.5072 0.4448 0.4121 0.68 0.49 0.54 0.47 0.6102 0.68 1 T 0.001 B 0.013 B 0.000 N 1.000 P -0.23 N 2.74 T -0.982 T 0.000 T 0.221 -0.023 3.894 5.45 1.088 1.617 10.591 -0.023463 NA 1 0.682558 0.493191 ID=COSM146350;OCCURENCE=1(stomach) 0.522 NA 10.3646754 624 2 171356274 171356274 G A exonic MYO3B NA nonsynonymous SNV MYO3B:NM_001083615:exon27:c.G3245A:p.R1082K,MYO3B:NM_138995:exon27:c.G3245A:p.R1082K exonic ENSG00000071909 NA nonsynonymous SNV ENSG00000071909:ENST00000317935:exon27:c.G3245A:p.R1082K,ENSG00000071909:ENST00000334231:exon27:c.G3272A:p.R1091K,ENSG00000071909:ENST00000408978:exon27:c.G3245A:p.R1082K,ENSG00000071909:ENST00000409044:exon27:c.G3245A:p.R1082K,ENSG00000071909:ENST00000484338:exon27:c.G3272A:p.R1091K Score=577;Name=lod=294 NA 2q31.1 Score=745;Name=V$MYOGNF1_01 NA NA NA rs10185178 0.92 0.92 0.901 0.903355 0.998 0.9911 0.9496 0.6755 0.9908 1 0.99 0.96 0.67 0.9721 1 1 T 0.005 B 0.008 B 0.000 D 0.341 P -0.15 N 1.69 T -0.935 T 0.000 T 0.206 0.469 6.546 3.88 1.404 1.071 9.298 0.469021 NA 0.76 0.998673 0.741048 NA 0.884 NA 10.3645604 624 11 113803028 113803028 A C exonic HTR3B NA nonsynonymous SNV HTR3B:NM_006028:exon5:c.A386C:p.Y129S exonic ENSG00000149305 NA nonsynonymous SNV ENSG00000149305:ENST00000537778:exon4:c.A353C:p.Y118S,ENSG00000149305:ENST00000260191:exon5:c.A386C:p.Y129S Score=343;Name=lod=33 NA 11q23.2 Score=794;Name=V$ER_Q6 NA NA NA rs1176744 0.34 0.34 0.339 0.354433 0.3082 0.1796 0.4078 0.4576 0.4049 0.31 0.21 0.41 0.5 0.3372 0.5 0.54 T 0.0 B 0.0 B 0.000 N 0.999 P -2.585 N -1.05 T -0.942 T 0.000 T 0.324 -1.382 0.025 4.64 0.644 4.628 8.903 -1.382329 NA 1 0.323906 0.42776 NA 0.435 NA 10.3640274 624 9 136004699 136004699 G A exonic RALGDS NA nonsynonymous SNV RALGDS:NM_001271775:exon1:c.C7T:p.R3W exonic ENSG00000160271 NA nonsynonymous SNV ENSG00000160271:ENST00000393157:exon1:c.C7T:p.R3W Score=329;Name=lod=29 NA 9q34.2 Score=764;Name=V$PAX5_01 NA NA NA rs623361 0.33 0.33 0.293 0.347045 0.3012 0.4821 0.2983 0.1952 0.4949 0.32 0.5 0.29 0.19 0.4082 0.5 0.04 D 0.019 B 0.007 B . . 0.000 P . . 1.51 T -0.942 T 0.000 T 0.241 1.211 9.915 2.77 0.665 0.935 6.67 1.210585 NA 0 0.260946 0.223881 NA 0.435 NA 10.3629874 624 12 10560957 10560957 T C exonic KLRC4 NA nonsynonymous SNV KLRC4:NM_013431:exon3:c.A311G:p.N104S exonic ENSG00000183542,ENSG00000255819 NA nonsynonymous SNV ENSG00000183542:ENST00000309384:exon3:c.A311G:p.N104S,ENSG00000255819:ENST00000543812:exon3:c.A62G:p.N21S,ENSG00000255819:ENST00000585507:exon3:c.A62G:p.N21S,ENSG00000255819:ENST00000588447:exon3:c.A62G:p.N21S,ENSG00000255819:ENST00000590131:exon3:c.A62G:p.N21S,ENSG00000255819:ENST00000588263:exon4:c.A62G:p.N21S,ENSG00000255819:ENST00000590323:exon4:c.A62G:p.N21S,ENSG00000255819:ENST00000591546:exon4:c.A62G:p.N21S,ENSG00000255819:ENST00000591937:exon4:c.A62G:p.N21S NA Name=Behcet's disease 12p13.2 NA NA NA NA rs2617170 0.6 0.6 0.581 0.556709 0.663 0.5496 0.6671 0.4327 0.544 0.66 0.59 0.66 0.47 0.6306 0.68 0.45 T 0.149 B 0.063 B 0.159 N 1.000 P 1.935 M 2.92 T -1.026 T 0.000 T 0.018 1.136 9.629 2.89 1.567 1.074 7.575 1.135782 NA 0.08 0.678638 0.477727 ID=COSM1358386;OCCURENCE=1(large_intestine) 0.587 NA 10.3610954 624 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 624 11 63057925 63057925 G A exonic SLC22A10 NA stopgain SLC22A10:NM_001039752:exon1:c.G288A:p.W96X exonic ENSG00000184999 NA stopgain ENSG00000184999:ENST00000332793:exon1:c.G288A:p.W96X,ENSG00000184999:ENST00000526800:exon1:c.G132A:p.W44X,ENSG00000184999:ENST00000532724:exon1:c.G132A:p.W44X,ENSG00000184999:ENST00000533483:exon2:c.G132A:p.W44X Score=349;Name=lod=35 NA 11q12.3 NA NA NA NA rs1790218 0.47 0.47 0.444 0.433506 0.5537 0.4692 0.5058 0.2663 0.4479 0.57 0.42 0.59 0.28 0.5158 0.59 1 T . . . . 0.000 U 0.000 P . . . . . . . . . 2.127 13.07 2.89 1.662 3.409 7.409 2.126603 2.126603 0 0.570149 0.302135 NA 0.449 NA 10.360351 624 4 95578588 95578588 G A exonic PDLIM5 NA nonsynonymous SNV PDLIM5:NM_001256425:exon10:c.G500A:p.S167N,PDLIM5:NM_001256428:exon10:c.G1109A:p.S370N,PDLIM5:NM_001011513:exon11:c.G1148A:p.S383N,PDLIM5:NM_006457:exon11:c.G1475A:p.S492N,PDLIM5:NM_001256427:exon12:c.G1166A:p.S389N,PDLIM5:NM_001256426:exon15:c.G1562A:p.S521N exonic ENSG00000163110 NA nonsynonymous SNV ENSG00000163110:ENST00000542407:exon10:c.G1109A:p.S370N,ENSG00000163110:ENST00000317968:exon11:c.G1475A:p.S492N,ENSG00000163110:ENST00000437932:exon11:c.G1148A:p.S383N,ENSG00000163110:ENST00000503974:exon12:c.G1166A:p.S389N,ENSG00000163110:ENST00000514743:exon14:c.G1562A:p.S521N Score=564;Name=lod=262 NA 4q22.3 Score=862;Name=V$CREB_02 NA Name=6 NA rs13107595 0.99 0.99 0.986 0.979633 0.994 1 0.9942 0.9607 0.9591 1 1 0.99 0.96 0.9886 1 1 T 0.001 B 0.004 B 0.000 N 0.000 P -0.315 N -2.28 D -0.917 T 0.000 T 0.016 0.769 8.064 4.68 0.474 6.268 10.606 0.768805 NA 0.89 0.993721 0.964367 NA 0.971 NA 10.3570124 624 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 624 16 56548501 56548501 C T exonic BBS2 NA nonsynonymous SNV BBS2:NM_031885:exon2:c.G209A:p.S70N exonic ENSG00000125124 NA nonsynonymous SNV ENSG00000125124:ENST00000245157:exon2:c.G209A:p.S70N,ENSG00000125124:ENST00000568104:exon2:c.G209A:p.S70N Score=483;Name=lod=123 NA 16q12.2 Score=821;Name=V$HNF1_01 NA NA NA rs4784677 1 1 0.994 0.996406 0.9911 1 0.9986 0.9985 0.9939 0.99 1 1 1 0.9938 1 1 T . . . . 0.000 N 1.000 P . . -1.16 T -0.909 T 0.000 T 0.168 0.719 7.825 5.54 0.950 5.011 10.250 0.718579 NA 1 0.992326 0.998635 NA 0.993 CLINSIG=pathogenic;CLNDBN=Bardet-Biedl_syndrome_2;CLNREVSTAT=single;CLNACC=RCV000004838.1;CLNDSDB=GeneReviews:MedGen;CLNDSDBID=NBK1363:C2936863 10.3561074 625 11 113561054 113561054 A G exonic TMPRSS5 NA nonsynonymous SNV TMPRSS5:NM_030770:exon11:c.T1105C:p.F369L exonic ENSG00000166682 NA nonsynonymous SNV ENSG00000166682:ENST00000544476:exon8:c.T766C:p.F256L,ENSG00000166682:ENST00000536856:exon9:c.T328C:p.F110L,ENSG00000166682:ENST00000540540:exon9:c.T328C:p.F110L,ENSG00000166682:ENST00000544634:exon9:c.T898C:p.F300L,ENSG00000166682:ENST00000538955:exon10:c.T973C:p.F325L,ENSG00000166682:ENST00000299882:exon11:c.T1105C:p.F369L,ENSG00000166682:ENST00000545579:exon11:c.T1078C:p.F360L Score=522;Name=lod=176 NA 11q23.2 NA NA NA NA rs7110736 0.76 0.76 0.749 0.770168 0.6362 0.748 0.7594 0.9637 0.6769 0.63 0.76 0.76 0.96 0.6959 0.96 0.31 T 0.0 B 0.001 B 0.002 N 0.998 P -1.26 N -2.21 D -0.964 T 0.000 T 0.063 0.808 8.246 3.21 1.010 2.355 6.890 0.8079 NA 0.65 0.64751 0.913557 NA 0.775 NA 10.3537234 625 15 51689772 51689772 G A exonic GLDN NA nonsynonymous SNV GLDN:NM_181789:exon6:c.G794A:p.S265N exonic ENSG00000186417 NA nonsynonymous SNV ENSG00000186417:ENST00000558426:exon5:c.G452A:p.S151N,ENSG00000186417:ENST00000335449:exon6:c.G794A:p.S265N,ENSG00000186417:ENST00000396399:exon6:c.G422A:p.S141N Score=493;Name=lod=135 NA 15q21.2 NA NA NA NA rs17648128 0.34 0.34 0.346 0.299321 0.3181 0.495 0.183 0.2209 0.2669 0.34 0.54 0.22 0.21 0.3274 0.54 0.81 T 0.0 B 0.0 B 0.000 N 1.000 P -0.895 N -3.23 D -0.986 T 0.000 T 0.026 0.021 4.124 4.05 0.812 2.382 8.526 0.021191 NA 1 0.334265 0.232923 NA 0.196 NA 10.3535684 625 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 625 8 107754473 107754473 G A exonic OXR1 NA synonymous SNV OXR1:NM_001198535:exon4:c.G369A:p.E123E,OXR1:NM_001198534:exon5:c.G450A:p.E150E,OXR1:NM_181354:exon12:c.G2238A:p.E746E,OXR1:NM_001198532:exon14:c.G2343A:p.E781E,OXR1:NM_018002:exon14:c.G2259A:p.E753E,OXR1:NM_001198533:exon15:c.G2340A:p.E780E exonic ENSG00000164830 NA synonymous SNV ENSG00000164830:ENST00000449762:exon4:c.G369A:p.E123E,ENSG00000164830:ENST00000297447:exon5:c.G450A:p.E150E,ENSG00000164830:ENST00000521592:exon5:c.G78A:p.E26E,ENSG00000164830:ENST00000312046:exon12:c.G2238A:p.E746E,ENSG00000164830:ENST00000452423:exon12:c.G603A:p.E201E,ENSG00000164830:ENST00000531443:exon13:c.G2259A:p.E753E,ENSG00000164830:ENST00000442977:exon14:c.G2343A:p.E781E,ENSG00000164830:ENST00000445937:exon14:c.G2259A:p.E753E,ENSG00000164830:ENST00000517566:exon14:c.G2340A:p.E780E Score=600;Name=lod=367 NA 8q23.1 NA NA NA Score=100;Name=2353967_0_+_100 rs1681904 0.38 0.38 0.327 0.381589 0.4433 0.3492 0.5216 0.2057 0.4898 0.45 0.37 0.5 0.2 0.4376 0.5 . . . . . . . . 0.000 P . . . . -0.866 T 0.000 T . 0.863 8.497 4.35 2.715 1.822 6.957 0.863313 NA NA 0.43407 0.241716 NA 0.384 NA 10.3516966 625 1 169498975 169498975 T C exonic F5 NA nonsynonymous SNV F5:NM_000130:exon16:c.A5290G:p.M1764V exonic ENSG00000198734 NA nonsynonymous SNV ENSG00000198734:ENST00000367796:exon16:c.A5305G:p.M1769V,ENSG00000198734:ENST00000367797:exon16:c.A5290G:p.M1764V NA Name=Uric acid levels 1q24.2 NA NA NA NA rs6030 0.29 0.29 0.258 0.308706 0.3111 0.2837 0.4885 0.1732 0.3875 0.32 0.24 0.44 0.21 0.3351 0.44 1 T 0.0 B 0.0 B 0.800 N 1.000 P -0.345 N -5.02 D -0.434 T 0.433 T 0.037 -1.434 0.02 -2.86 -0.913 -2.414 3.252 -1.43384 NA 1 0.335581 0.199274 NA 0.399 NA 10.3515524 625 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 625 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 625 1 197070901 197070901 A G exonic ASPM NA nonsynonymous SNV ASPM:NM_018136:exon18:c.T7480C:p.Y2494H exonic ENSG00000066279 NA nonsynonymous SNV ENSG00000066279:ENST00000367409:exon18:c.T7480C:p.Y2494H Score=399;Name=lod=56 NA 1q31.3 Score=807;Name=V$MEF2_03 NA NA NA rs964201 1 1 0.998 0.997404 0.995 1 0.9942 1 0.9959 0.99 1 0.99 1 0.9956 1 1 T 0.001 B 0.01 B 0.000 N 0.000 P -1.65 N -0.74 T -0.934 T 0.000 T 0.121 -1.061 0.183 4.83 1.142 2.999 13.631 -1.060788 NA 1 0.994067 0.998865 NA 1 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_5|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000020789.1|RCV000123700.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.;CLNDSDBID=NBK9587:C1837501:608716:ORPHA2512|. 10.3486664 625 6 31540784 31540784 C A exonic LTA NA nonsynonymous SNV LTA:NM_000595:exon3:c.C179A:p.T60N,LTA:NM_001159740:exon3:c.C179A:p.T60N exonic ENSG00000226979 NA nonsynonymous SNV ENSG00000226979:ENST00000418386:exon3:c.C179A:p.T60N,ENSG00000226979:ENST00000454783:exon3:c.C179A:p.T60N Score=446;Name=lod=87 NA 6p21.33 NA NA Name=2 NA rs1041981 0.4 0.4 0.377 0.389577 0.3062 0.4692 0.3386 0.5136 0.2618 0.32 0.45 0.31 0.53 0.3496 0.53 0.24 T 0.019 B 0.022 B 0.030 N 0.864 P 1.845 L 2.42 T -1.032 T 0.015 T 0.104 1.16 9.721 3.15 0.641 0.849 5.229 1.159641 NA 0.22 0.330934 0.510589 NA 0.391 CLINSIG=other;CLNDBN=Myocardial_infarction;CLNREVSTAT=single;CLNACC=RCV000015455.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027051:22298006 10.3465994 626 2 206581033 206581033 G A exonic NRP2 NA nonsynonymous SNV NRP2:NM_003872:exon3:c.G368A:p.R123K,NRP2:NM_018534:exon3:c.G368A:p.R123K,NRP2:NM_201264:exon3:c.G368A:p.R123K,NRP2:NM_201266:exon3:c.G368A:p.R123K,NRP2:NM_201267:exon3:c.G368A:p.R123K,NRP2:NM_201279:exon3:c.G368A:p.R123K exonic ENSG00000118257 NA nonsynonymous SNV ENSG00000118257:ENST00000272849:exon3:c.G368A:p.R123K,ENSG00000118257:ENST00000355117:exon3:c.G368A:p.R123K,ENSG00000118257:ENST00000357118:exon3:c.G368A:p.R123K,ENSG00000118257:ENST00000357785:exon3:c.G368A:p.R123K,ENSG00000118257:ENST00000360409:exon3:c.G368A:p.R123K,ENSG00000118257:ENST00000412873:exon3:c.G368A:p.R123K,ENSG00000118257:ENST00000540178:exon3:c.G368A:p.R123K,ENSG00000118257:ENST00000540841:exon3:c.G368A:p.R123K,ENSG00000118257:ENST00000417189:exon4:c.G368A:p.R123K Score=485;Name=lod=125 NA 2q33.3 NA Name=CTCF,CTCFL_(SC-98982),SMC3_(ab9263) Name=32 NA rs849541 0.97 0.97 0.967 0.964257 1 1 0.9914 0.8691 1 1 1 0.99 0.88 0.9895 1 1 T 0.001 B 0.004 B 0.000 N 0.997 P 0.21 N 1.33 T -0.913 T 0.000 T 0.24 1.38 10.54 6.17 1.158 1.612 9.598 1.379708 1.379708 1 0.998953 0.894916 NA 0.971 NA 10.3448804 626 10 50856652 50856652 G A exonic CHAT NA nonsynonymous SNV CHAT:NM_001142929:exon9:c.G1027A:p.V343M,CHAT:NM_020549:exon9:c.G1381A:p.V461M,CHAT:NM_020984:exon9:c.G1027A:p.V343M,CHAT:NM_020986:exon9:c.G1027A:p.V343M,CHAT:NM_001142933:exon10:c.G1135A:p.V379M,CHAT:NM_001142934:exon10:c.G1027A:p.V343M,CHAT:NM_020985:exon10:c.G1027A:p.V343M exonic ENSG00000070748 NA nonsynonymous SNV ENSG00000070748:ENST00000337653:exon9:c.G1381A:p.V461M,ENSG00000070748:ENST00000339797:exon9:c.G1027A:p.V343M,ENSG00000070748:ENST00000395559:exon9:c.G1027A:p.V343M,ENSG00000070748:ENST00000455728:exon9:c.G1027A:p.V343M,ENSG00000070748:ENST00000351556:exon10:c.G1027A:p.V343M,ENSG00000070748:ENST00000395562:exon10:c.G1135A:p.V379M Score=511;Name=lod=159 NA 10q11.23 NA Name=c-Myc,Max Name=7 NA rs4838544 0.97 0.97 0.96 0.966454 1 1 0.9928 0.8767 1 1 1 0.99 0.86 0.9896 1 1 T 0.048 B 0.005 B 0.000 N 1.000 P -0.67 N -2.48 D -0.922 T 0.000 T 0.233 -0.099 3.515 3.87 0.252 5.317 9.554 -0.098923 NA 1 0.999302 0.886291 NA 0.964 NA 10.3444314 626 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$STAT3_01 NA NA NA rs3179969 0.38 0.38 0.407 0.407548 0.3002 0.3621 0.281 0.5749 0.4284 0.31 0.33 0.29 0.58 0.3473 0.58 1 T 0.001 B 0.002 B 0.355 N 1.000 P -0.745 N 2.34 T -0.917 T 0.000 T 0.266 1.218 9.944 2.45 -0.020 1.184 3.822 1.218398 NA 0.42 0.34287 0.543804 NA 0.486 NA 10.3429634 626 18 47563299 47563299 T C exonic MYO5B NA nonsynonymous SNV MYO5B:NM_001080467:exon4:c.A376G:p.T126A exonic ENSG00000167306 NA nonsynonymous SNV ENSG00000167306:ENST00000285039:exon4:c.A376G:p.T126A Score=651;Name=lod=590 NA 18q21.1 Score=910;Name=V$TCF11_01 NA NA NA rs1815930 0.97 0.97 0.967 0.973442 1 1 0.9957 0.9017 1 1 1 0.99 0.88 0.9931 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.55 N -2.13 D -0.930 T 0.000 T 0.076 1.16 9.724 5.52 1.482 6.058 13.674 1.16037 NA 1 0.999282 0.931241 NA 0.964 NA 10.3409514 626 2 232087474 232087474 A G exonic ARMC9 NA nonsynonymous SNV ARMC9:NM_025139:exon6:c.A538G:p.I180V exonic ENSG00000135931 NA nonsynonymous SNV ENSG00000135931:ENST00000349938:exon6:c.A538G:p.I180V Score=412;Name=lod=63 NA 2q37.1 NA NA NA NA rs1626450 0.84 0.84 0.833 1 1 1 1 1 1 0.83 0.88 0.89 0.77 0.9999 0.99 0.02 D 0.005 B 0.027 B 0.000 D 1.000 P -0.55 N 2.37 T -0.955 T 0.000 T 0.097 2.494 14.3 5.59 1.371 6.601 14.725 2.494435 2.494435 0 0.9929 0.992727 NA NA NA 10.3405334 626 1 156877457 156877457 T C exonic PEAR1 NA nonsynonymous SNV PEAR1:NM_001080471:exon7:c.T700C:p.S234P exonic ENSG00000187800 NA nonsynonymous SNV ENSG00000187800:ENST00000292357:exon7:c.T700C:p.S234P,ENSG00000187800:ENST00000338302:exon8:c.T700C:p.S234P Score=441;Name=lod=83 NA 1q23.1 NA Name=FOXA1_(C-20),Pol2,Pol2-4H8,c-Jun,RFX5_(N-494),c-Fos,Egr-1 Name=132 NA rs1952294 0.98 0.98 0.983 0.975839 1 1 0.9971 0.91 1 1 1 0.99 0.93 0.9936 1 1 T 0.0 B 0.0 B 0.010 N 1.000 P -1.955 N 0.69 T -0.972 T 0.009 T 0.068 0.399 6.169 5.04 1.276 2.073 7.681 0.399402 NA 1 0.999535 0.932365 NA 0.949 NA 10.3401984 626 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$STAT5A_02 NA NA NA rs2239710 0.72 0.72 0.731 0.744609 0.6451 0.5873 0.6744 0.9682 0.7566 0.66 0.6 0.7 0.95 0.6983 0.95 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.1 N . . -0.978 T 0.000 T 0.046 -1.679 0.012 3.56 1.064 2.515 7.274 -1.67948 NA 0.4 0.651047 0.912392 ID=COSM1383139;OCCURENCE=1(large_intestine) 0.826 NA 10.3388864 626 17 46607021 46607021 T C exonic HOXB1 NA nonsynonymous SNV HOXB1:NM_002144:exon2:c.A794G:p.E265G exonic ENSG00000120094 NA nonsynonymous SNV ENSG00000120094:ENST00000239174:exon2:c.A794G:p.E265G Score=414;Name=lod=64 NA 17q21.32 NA NA Name=6 NA rs7226137 0.99 0.99 0.983 0.986621 1 1 0.9971 0.9508 1 1 1 0.99 0.95 0.9955 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -0.975 N -2.53 D -0.935 T 0.000 T 0.058 0.426 6.312 5.19 1.446 2.109 6.306 0.425736 NA 1 1 0.952792 NA 0.993 NA 10.3378334 626 20 590542 590542 C G exonic TCF15 NA nonsynonymous SNV TCF15:NM_004609:exon1:c.G340C:p.V114L exonic ENSG00000125878 NA nonsynonymous SNV ENSG00000125878:ENST00000246080:exon1:c.G340C:p.V114L Score=784;Name=lod=2045 NA 20p13 Score=858;Name=V$HAND1E47_01 NA NA NA rs2754502 0.93 0.93 1 0.994808 0.996 0.9841 0.9957 0.9977 1 0.9 0.95 0.96 0.95 1 0.96 1 T 0.0 B 0.0 B 0.001 N 0.997 P -3.65 N -2.32 D -0.923 T 0.000 T 0.387 0.633 7.4 3.11 0.946 3.783 7.467 0.632551 NA 1 NA NA NA NA NA 10.3373334 626 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 626 12 56862886 56862886 T C exonic SPRYD4 NA nonsynonymous SNV SPRYD4:NM_207344:exon2:c.T149C:p.M50T exonic ENSG00000176422 NA nonsynonymous SNV ENSG00000176422:ENST00000338146:exon2:c.T149C:p.M50T Score=566;Name=lod=266 NA 12q13.3 NA Name=ELF1_(SC-631) Name=21 NA rs2657881 0.99 0.99 0.983 0.988818 0.999 1 0.9971 0.9599 1 1 1 1 0.96 0.9977 1 0.19 T 0.0 B 0.0 B 0.000 N 0.000 P -1.48 N 0.29 T -0.938 T 0.000 T 0.34 2.592 14.63 5.59 1.527 4.443 14.022 2.591679 2.591679 1 1 0.980254 NA 0.978 NA 10.3366334 626 8 139701209 139701209 G T exonic COL22A1 NA nonsynonymous SNV COL22A1:NM_152888:exon37:c.C2813A:p.A938D exonic ENSG00000169436 NA nonsynonymous SNV ENSG00000169436:ENST00000303045:exon37:c.C2813A:p.A938D,ENSG00000169436:ENST00000435777:exon37:c.C2813A:p.A938D NA NA 8q24.23 NA NA NA NA rs4909444 0.29 0.29 0.314 0.291733 0.34 0.1835 0.3012 0.2534 0.3988 0.34 0.21 0.32 0.29 0.3287 0.34 0.59 T 0.062 B 0.017 B 0.967 U 1.000 P 0.04 N -3.23 D -1.036 T 0.000 T 0.028 -0.796 0.686 2.74 2.017 1.251 6.258 -0.796225 NA 0.63 0.328023 0.288016 NA 0.319 NA 10.3366104 626 10 99991408 99991408 A G exonic R3HCC1L NA nonsynonymous SNV R3HCC1L:NM_001256621:exon4:c.A143G:p.H48R,R3HCC1L:NM_001256620:exon5:c.A1925G:p.H642R,R3HCC1L:NM_014472:exon5:c.A1925G:p.H642R,R3HCC1L:NM_138469:exon6:c.A1925G:p.H642R,R3HCC1L:NM_001256619:exon7:c.A1967G:p.H656R exonic ENSG00000166024 NA nonsynonymous SNV ENSG00000166024:ENST00000370586:exon3:c.A143G:p.H48R,ENSG00000166024:ENST00000370584:exon5:c.A1925G:p.H642R,ENSG00000166024:ENST00000298999:exon6:c.A1925G:p.H642R,ENSG00000166024:ENST00000314594:exon7:c.A173G:p.H58R Score=640;Name=lod=532 NA 10q24.2 NA Name=TAL1_(SC-12984) Name=2 NA rs1952061 0.99 0.99 0.987 0.991813 1 1 0.9971 0.9705 1 1 1 0.99 0.97 0.9973 1 . . 0.0 B 0.0 B 0.000 N 1.000 P -2.34 N 2.44 T -0.951 T 0.000 T 0.146 1.161 9.727 5.73 1.426 4.415 10.181 1.161179 NA 0.58 0.999535 0.972537 NA 0.978 NA 10.3364984 626 12 57589784 57589784 A C exonic LRP1 NA nonsynonymous SNV LRP1:NM_002332:exon54:c.A8699C:p.Q2900P exonic ENSG00000123384 NA nonsynonymous SNV ENSG00000123384:ENST00000243077:exon54:c.A8699C:p.Q2900P Score=497;Name=lod=139 NA 12q13.3 NA Name=CTCF NA NA rs7397167 0.99 0.99 0.996 0.989816 1 1 1 0.9614 1 0.99 0.99 0.99 0.97 0.997 1 0.39 T 0.0 B 0.0 B 0.002 N 0.000 P -0.98 N -2.59 D -0.942 T 0.000 T 0.026 1.863 12.19 4.54 1.145 3.699 13.090 1.862923 1.862923 1 0.999884 0.967998 NA 1 NA 10.3364494 626 4 69094575 69094575 T G exonic TMPRSS11B NA nonsynonymous SNV TMPRSS11B:NM_182502:exon9:c.A974C:p.D325A exonic ENSG00000185873 NA nonsynonymous SNV ENSG00000185873:ENST00000332644:exon9:c.A974C:p.D325A Score=295;Name=lod=21 NA 4q13.2 Score=749;Name=V$MEF2_04 NA NA NA rs2319796 1 1 0.994 0.994209 0.999 1 0.9971 0.9803 1 1 1 1 0.99 0.9988 1 1 T 0.0 B 0.0 B 0.001 N 1.000 P -3.715 N -2.84 D -0.909 T 0.000 T 0.057 -0.861 0.523 4.62 1.339 4.562 12.314 -0.861419 NA 1 1 0.988198 NA 1 NA 10.3355334 626 1 15812432 15812432 A G exonic CELA2B NA nonsynonymous SNV CELA2B:NM_015849:exon6:c.A530G:p.Q177R exonic ENSG00000215704 NA nonsynonymous SNV ENSG00000215704:ENST00000375910:exon6:c.A530G:p.Q177R NA NA 1p36.21 Score=773;Name=V$PAX5_01 Name=PU.1 NA NA rs6429745 0.99 0.99 0.992 0.993211 1 1 0.9942 0.9773 1 1 1 1 0.98 0.9982 1 0.37 T 0.0 B 0.0 B 0.305 N 1.000 P -0.63 N -2.38 D -0.971 T 0.000 T 0.122 0.258 5.395 -2.83 -1.183 -2.057 0.461 0.258013 NA 0.28 0.999767 0.979346 NA 0.993 NA 10.3353664 627 10 33552696 33552696 A G exonic NRP1 NA nonsynonymous SNV NRP1:NM_001024628:exon4:c.T536C:p.V179A,NRP1:NM_001024629:exon4:c.T536C:p.V179A,NRP1:NM_001244972:exon4:c.T536C:p.V179A,NRP1:NM_001244973:exon4:c.T536C:p.V179A,NRP1:NM_003873:exon4:c.T536C:p.V179A exonic ENSG00000099250 NA nonsynonymous SNV ENSG00000099250:ENST00000374816:exon4:c.T536C:p.V179A,ENSG00000099250:ENST00000374821:exon4:c.T536C:p.V179A,ENSG00000099250:ENST00000374822:exon4:c.T536C:p.V179A,ENSG00000099250:ENST00000374823:exon4:c.T536C:p.V179A,ENSG00000099250:ENST00000374867:exon4:c.T536C:p.V179A,ENSG00000099250:ENST00000395995:exon4:c.T536C:p.V179A,ENSG00000099250:ENST00000265371:exon5:c.T536C:p.V179A Score=662;Name=lod=653 NA 10p11.22 NA Name=GR,c-Fos,p300,GATA-2 Name=74 NA rs7079053 0.99 0.99 1 1 1 1 1 1 1 1 0.98 1 0.98 0.9998 1 1 T 0.0 B 0.004 B 0.000 N 0.000 P -0.535 N 1.65 T -0.924 T 0.000 T 0.321 0.778 8.108 5.76 1.453 8.034 15.057 0.77807 NA 1 0.999302 0.999773 NA 0.696 NA 10.3342314 627 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 627 21 46314907 46314907 T A exonic ITGB2 NA nonsynonymous SNV ITGB2:NM_000211:exon9:c.A1062T:p.Q354H,ITGB2:NM_001127491:exon9:c.A1062T:p.Q354H exonic ENSG00000160255 NA nonsynonymous SNV ENSG00000160255:ENST00000397852:exon8:c.A1062T:p.Q354H,ENSG00000160255:ENST00000397854:exon8:c.A891T:p.Q297H,ENSG00000160255:ENST00000302347:exon9:c.A1062T:p.Q354H,ENSG00000160255:ENST00000355153:exon9:c.A1062T:p.Q354H,ENSG00000160255:ENST00000397857:exon9:c.A1062T:p.Q354H,ENSG00000160255:ENST00000397850:exon10:c.A1062T:p.Q354H Score=479;Name=lod=118 NA 21q22.3 NA NA NA NA rs235330 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 0.02 D 0.824 P 0.575 P . . 0.000 P 2.765 M -4.56 D -0.945 T 0.000 T 0.072 1.995 12.63 1.13 0.227 -0.934 3.067 1.994936 1.994936 0.04 0.999767 1 NA 1 CLINSIG=untested;CLNDBN=Leukocyte_adhesion_deficiency_type_1;CLNREVSTAT=not;CLNACC=RCV000087107.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C1861766:116920:ORPHA2968:ORPHA99842 10.3336664 627 2 33585796 33585796 T C exonic LTBP1 NA nonsynonymous SNV LTBP1:NM_001166264:exon22:c.T3029C:p.V1010A,LTBP1:NM_001166266:exon22:c.T2870C:p.V957A,LTBP1:NM_000627:exon23:c.T3155C:p.V1052A,LTBP1:NM_001166265:exon23:c.T2996C:p.V999A,LTBP1:NM_206943:exon27:c.T4133C:p.V1378A exonic ENSG00000049323 NA nonsynonymous SNV ENSG00000049323:ENST00000422669:exon5:c.T641C:p.V214A,ENSG00000049323:ENST00000272273:exon8:c.T827C:p.V276A,ENSG00000049323:ENST00000418533:exon22:c.T3029C:p.V1010A,ENSG00000049323:ENST00000390003:exon23:c.T3158C:p.V1053A,ENSG00000049323:ENST00000402934:exon23:c.T2990C:p.V997A,ENSG00000049323:ENST00000404525:exon23:c.T2996C:p.V999A,ENSG00000049323:ENST00000407925:exon23:c.T3155C:p.V1052A,ENSG00000049323:ENST00000354476:exon27:c.T4136C:p.V1379A,ENSG00000049323:ENST00000404816:exon27:c.T4133C:p.V1378A Score=435;Name=lod=78 NA 2p22.3 NA Name=USF-1 NA NA rs4422143 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 1 T 0.0 B 0.0 B . . 0.855 P -1.7 N -2.9 D -0.934 T 0.000 T 0.211 -0.516 1.642 4.89 1.180 3.902 13.716 -0.516131 NA 1 1 0.999773 NA 1 NA 10.3334334 627 7 32209425 32209425 A G exonic PDE1C NA nonsynonymous SNV PDE1C:NM_001191058:exon3:c.T280C:p.S94P exonic ENSG00000154678 NA nonsynonymous SNV ENSG00000154678:ENST00000396193:exon3:c.T280C:p.S94P Score=376;Name=lod=45 NA 7p14.3 Score=799;Name=V$CDPCR3_01 NA NA NA rs977625 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 1 T 0.0 B 0.0 B 0.517 N 0.000 P -1.1 N -0.44 T -0.893 T 0.000 T 0.054 0.397 6.157 5.65 1.417 6.425 14.508 0.397188 NA 0.48 NA NA NA 0.993 NA 10.3334334 627 10 71168685 71168685 A T exonic TACR2 NA nonsynonymous SNV TACR2:NM_001057:exon3:c.T734A:p.M245K exonic ENSG00000075073 NA nonsynonymous SNV ENSG00000075073:ENST00000373307:exon1:c.T98A:p.M33K,ENSG00000075073:ENST00000373306:exon3:c.T734A:p.M245K Score=452;Name=lod=92 NA 10q22.1 NA Name=Egr-1,ZBTB7A_(SC-34508),CTCFL_(SC-98982),Max,c-Myc,Rad21,PAX5-C20,EBF1_(C-8),GABP,Pol2-4H8,CTCF_(SC-5916),ELF1_(SC-631),HEY1,Pol2,HA-E2F1,E2F6,CTCF,E2F6_(H-50) Name=147 NA rs55953810 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 1 T 0.0 B 0.0 B 0.000 N 0.997 P -3.08 N -0.4 T -0.945 T 0.000 T 0.206 0.634 7.405 4.88 0.825 3.846 10.061 0.633562 NA 1 NA NA NA 0.362 NA 10.3334334 627 1 40533266 40533266 T G exonic CAP1 NA nonsynonymous SNV CAP1:NM_001105530:exon8:c.T685G:p.C229G,CAP1:NM_006367:exon8:c.T685G:p.C229G exonic ENSG00000131236 NA nonsynonymous SNV ENSG00000131236:ENST00000414893:exon5:c.T238G:p.C80G,ENSG00000131236:ENST00000340450:exon8:c.T682G:p.C228G,ENSG00000131236:ENST00000372792:exon8:c.T685G:p.C229G,ENSG00000131236:ENST00000372797:exon8:c.T685G:p.C229G,ENSG00000131236:ENST00000372798:exon8:c.T682G:p.C228G,ENSG00000131236:ENST00000372802:exon8:c.T682G:p.C228G,ENSG00000131236:ENST00000372805:exon8:c.T685G:p.C229G,ENSG00000131236:ENST00000435719:exon8:c.T682G:p.C228G Score=540;Name=lod=208 NA 1p34.2 NA Name=BCL3 NA NA rs11207440 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.68 T 0.0 B 0.0 B 0.005 N 1.000 P -1.2 N 2.85 T -0.960 T 0.000 T 0.384 1.078 9.4 4.56 1.298 2.322 12.227 1.077878 NA 0.57 NA NA NA 1 NA 10.3333334 627 1 40533287 40533287 T G exonic CAP1 NA nonsynonymous SNV CAP1:NM_001105530:exon8:c.T706G:p.C236G,CAP1:NM_006367:exon8:c.T706G:p.C236G exonic ENSG00000131236 NA nonsynonymous SNV ENSG00000131236:ENST00000414893:exon5:c.T259G:p.C87G,ENSG00000131236:ENST00000340450:exon8:c.T703G:p.C235G,ENSG00000131236:ENST00000372792:exon8:c.T706G:p.C236G,ENSG00000131236:ENST00000372797:exon8:c.T706G:p.C236G,ENSG00000131236:ENST00000372798:exon8:c.T703G:p.C235G,ENSG00000131236:ENST00000372802:exon8:c.T703G:p.C235G,ENSG00000131236:ENST00000372805:exon8:c.T706G:p.C236G,ENSG00000131236:ENST00000435719:exon8:c.T703G:p.C235G Score=363;Name=lod=40 NA 1p34.2 NA Name=BCL3 NA NA rs6665926 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.29 T 0.0 B 0.0 B 0.000 N 1.000 P -2.065 N 1.62 T -0.938 T 0.000 T 0.339 0.742 7.939 4.88 1.298 4.185 12.535 0.742297 NA 0.43 NA NA NA 1 NA 10.3333334 627 1 40533326 40533326 T G exonic CAP1 NA nonsynonymous SNV CAP1:NM_001105530:exon8:c.T745G:p.Y249D,CAP1:NM_006367:exon8:c.T745G:p.Y249D exonic ENSG00000131236 NA nonsynonymous SNV ENSG00000131236:ENST00000414893:exon5:c.T298G:p.Y100D,ENSG00000131236:ENST00000340450:exon8:c.T742G:p.Y248D,ENSG00000131236:ENST00000372792:exon8:c.T745G:p.Y249D,ENSG00000131236:ENST00000372797:exon8:c.T745G:p.Y249D,ENSG00000131236:ENST00000372798:exon8:c.T742G:p.Y248D,ENSG00000131236:ENST00000372802:exon8:c.T742G:p.Y248D,ENSG00000131236:ENST00000372805:exon8:c.T745G:p.Y249D,ENSG00000131236:ENST00000435719:exon8:c.T742G:p.Y248D Score=555;Name=lod=240 NA 1p34.2 NA Name=BCL3 NA NA rs6665937 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.97 T 0.0 B 0.0 B 0.000 N 1.000 P -1.495 N 2.8 T -0.959 T 0.000 T 0.336 -0.409 2.09 4.88 1.298 5.822 12.535 -0.40854 NA 0.87 NA NA NA 1 NA 10.3333334 627 1 40533347 40533347 T G exonic CAP1 NA nonsynonymous SNV CAP1:NM_001105530:exon8:c.T766G:p.S256A,CAP1:NM_006367:exon8:c.T766G:p.S256A exonic ENSG00000131236 NA nonsynonymous SNV ENSG00000131236:ENST00000414893:exon5:c.T319G:p.S107A,ENSG00000131236:ENST00000340450:exon8:c.T763G:p.S255A,ENSG00000131236:ENST00000372792:exon8:c.T766G:p.S256A,ENSG00000131236:ENST00000372797:exon8:c.T766G:p.S256A,ENSG00000131236:ENST00000372798:exon8:c.T763G:p.S255A,ENSG00000131236:ENST00000372802:exon8:c.T763G:p.S255A,ENSG00000131236:ENST00000372805:exon8:c.T766G:p.S256A,ENSG00000131236:ENST00000435719:exon8:c.T763G:p.S255A Score=555;Name=lod=240 NA 1p34.2 NA Name=BCL3 NA NA rs6665944 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.001 B 0.001 N 1.000 P -2.025 N 3.07 T -0.953 T 0.000 T 0.293 0.036 4.199 4.88 1.298 4.552 8.352 0.035701 NA 0.16 NA NA NA 1 NA 10.3333334 627 2 32667182 32667182 G C exonic BIRC6 NA nonsynonymous SNV BIRC6:NM_016252:exon18:c.G3994C:p.V1332L exonic ENSG00000115760 NA nonsynonymous SNV ENSG00000115760:ENST00000421745:exon18:c.G3994C:p.V1332L Score=610;Name=lod=403 NA 2p22.3 NA Name=HEY1,FOXA1_(SC-101058) NA NA rs60197615 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 0.999 P -1.32 N 0.11 T -0.915 T 0.000 T 0.216 1.318 10.32 5.64 1.379 4.655 16.869 1.318258 1.318258 1 NA NA NA 1 NA 10.3333334 627 2 69741854 69741854 T G exonic AAK1 NA nonsynonymous SNV AAK1:NM_014911:exon13:c.A1525C:p.K509Q exonic ENSG00000115977 NA nonsynonymous SNV ENSG00000115977:ENST00000406297:exon13:c.A1525C:p.K509Q,ENSG00000115977:ENST00000409068:exon13:c.A1525C:p.K509Q,ENSG00000115977:ENST00000409085:exon13:c.A1525C:p.K509Q Score=309;Name=lod=24 NA 2p13.3 Score=847;Name=V$RFX1_01 Name=CTCF NA NA rs6715776 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.507 N 1.000 P -0.695 N 1.82 T -0.962 T 0.000 T 0.052 -0.142 3.307 4.52 0.821 3.429 9.935 -0.141596 NA 1 NA NA NA 1 NA 10.3333334 627 2 216235089 216235089 C T exonic FN1 NA nonsynonymous SNV FN1:NM_212474:exon39:c.G5878A:p.V1960I,FN1:NM_212476:exon39:c.G6238A:p.V2080I,FN1:NM_002026:exon41:c.G6415A:p.V2139I,FN1:NM_212478:exon41:c.G6340A:p.V2114I,FN1:NM_212482:exon41:c.G6781A:p.V2261I exonic ENSG00000115414 NA nonsynonymous SNV ENSG00000115414:ENST00000456923:exon16:c.G2659A:p.V887I,ENSG00000115414:ENST00000356005:exon39:c.G6238A:p.V2080I,ENSG00000115414:ENST00000357867:exon39:c.G5878A:p.V1960I,ENSG00000115414:ENST00000346544:exon40:c.G6148A:p.V2050I,ENSG00000115414:ENST00000359671:exon40:c.G6508A:p.V2170I,ENSG00000115414:ENST00000421182:exon40:c.G6070A:p.V2024I,ENSG00000115414:ENST00000432072:exon40:c.G6151A:p.V2051I,ENSG00000115414:ENST00000443816:exon40:c.G6145A:p.V2049I,ENSG00000115414:ENST00000336916:exon41:c.G6415A:p.V2139I,ENSG00000115414:ENST00000354785:exon41:c.G6781A:p.V2261I,ENSG00000115414:ENST00000446046:exon41:c.G6340A:p.V2114I,ENSG00000115414:ENST00000323926:exon42:c.G6688A:p.V2230I Score=548;Name=lod=225 NA 2q35 NA Name=FOXA1_(C-20),FOXA1_(SC-101058),FOXA2_(SC-6554) Name=12 NA rs1250209 1 1 0.999 0.9998 1 1 1 0.9992 1 1 1 1 1 1 1 1 T 0.022 B 0.02 B 0.000 N 0.000 P -0.795 N 0.29 T -0.928 T 0.000 T 0.253 0.925 8.767 5.6 0.960 3.798 11.650 0.924924 NA 1 1 0.999546 NA 1 NA 10.3333334 627 3 38739574 38739574 T C exonic SCN10A NA nonsynonymous SNV SCN10A:NM_006514:exon27:c.A5137G:p.M1713V exonic ENSG00000185313 NA nonsynonymous SNV ENSG00000185313:ENST00000449082:exon27:c.A5137G:p.M1713V Score=599;Name=lod=361 NA 3p22.2 NA NA NA NA rs6599241 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 0.986 P -2.045 N -4.81 D -0.898 T 0.000 T 0.309 0.266 5.438 5.38 1.523 5.940 14.472 0.265926 NA 0 NA NA NA 1 NA 10.3333334 627 3 132360883 132360883 C T exonic ACAD11 NA nonsynonymous SNV ACAD11:NM_032169:exon4:c.G470A:p.R157H exonic ENSG00000240303 NA nonsynonymous SNV ENSG00000240303:ENST00000264990:exon4:c.G470A:p.R157H,ENSG00000240303:ENST00000355458:exon4:c.G470A:p.R157H,ENSG00000240303:ENST00000481970:exon4:c.G470A:p.R157H,ENSG00000240303:ENST00000485198:exon4:c.G470A:p.R157H Score=369;Name=lod=42 NA 3q22.1 NA NA Name=5 NA rs821572 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 P -4.385 N 2.79 T -0.944 T 0.000 T 0.4 0.251 5.357 5.49 1.017 5.246 11.734 0.251119 NA 1 NA NA NA 1 NA 10.3333334 627 5 112312676 112312676 T C exonic DCP2 NA nonsynonymous SNV DCP2:NM_001242377:exon1:c.T46C:p.F16L,DCP2:NM_152624:exon1:c.T46C:p.F16L exonic ENSG00000172795 NA nonsynonymous SNV ENSG00000172795:ENST00000389063:exon1:c.T46C:p.F16L,ENSG00000172795:ENST00000515408:exon1:c.T46C:p.F16L Score=591;Name=lod=336 NA 5q22.2 NA Name=Pol2,Ini1,Pol2-4H8,HMGN3,NFKB,HEY1,ETS1,Sin3Ak-20,YY1,ZBTB7A_(SC-34508),Egr-1,CCNT2,ZNF263 NA NA rs33555 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 0.000 P -3.22 N 1.94 T -0.962 T 0.000 T 0.406 4.092 21.1 4.52 1.135 4.671 12.503 4.092186 4.092186 1 NA NA NA 1 NA 10.3333334 627 5 115813726 115813726 A G exonic SEMA6A NA nonsynonymous SNV SEMA6A:NM_020796:exon14:c.T1552C:p.Y518H exonic ENSG00000092421 NA nonsynonymous SNV ENSG00000092421:ENST00000282394:exon2:c.T148C:p.Y50H,ENSG00000092421:ENST00000257414:exon14:c.T1552C:p.Y518H,ENSG00000092421:ENST00000343348:exon14:c.T1552C:p.Y518H,ENSG00000092421:ENST00000510263:exon14:c.T1552C:p.Y518H Score=522;Name=lod=176 NA 5q23.1 NA Name=Pol2-4H8 NA NA rs34966 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.003 B 0.000 N 0.000 P -0.465 N 0.95 T -0.923 T 0.000 T 0.4 0.77 8.07 5.98 1.551 6.735 15.175 0.770002 NA 1 NA NA NA 1 NA 10.3333334 627 6 112508770 112508770 G T exonic LAMA4 NA nonsynonymous SNV LAMA4:NM_001105206:exon8:c.C848A:p.A283E,LAMA4:NM_001105207:exon8:c.C827A:p.A276E,LAMA4:NM_002290:exon8:c.C827A:p.A276E exonic ENSG00000112769 NA nonsynonymous SNV ENSG00000112769:ENST00000424408:exon7:c.C827A:p.A276E,ENSG00000112769:ENST00000521398:exon7:c.C848A:p.A283E,ENSG00000112769:ENST00000230538:exon8:c.C848A:p.A283E,ENSG00000112769:ENST00000389463:exon8:c.C827A:p.A276E,ENSG00000112769:ENST00000522006:exon8:c.C827A:p.A276E Score=374;Name=lod=44 NA 6q21 NA NA NA NA rs9400522 0.82 0.82 0.962 1 1 1 1 1 1 0.82 0.86 0.87 0.75 1 0.87 0.08 T 0.009 B 0.004 B 0.000 D 0.000 P 0 N 2.71 T -1.035 T 0.048 T 0.356 3.396 17.46 5.9 1.068 4.601 13.469 3.396223 3.396223 0.02 NA NA NA NA NA 10.3333334 627 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 627 10 16943371 16943371 G C exonic CUBN NA nonsynonymous SNV CUBN:NM_001081:exon52:c.C8150G:p.S2717W exonic ENSG00000107611 NA nonsynonymous SNV ENSG00000107611:ENST00000377833:exon52:c.C8150G:p.S2717W Score=346;Name=lod=34 NA 10p13 NA Name=NANOG_(SC-33759),SP1 Name=3 NA rs2796835 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.001 N 0.000 P -3.785 N 3.05 T -0.903 T 0.000 T 0.096 0.272 5.471 5.72 1.564 3.992 17.314 0.271925 NA 1 1 0.999773 NA 1 NA 10.3333334 627 16 103517 103517 A C exonic POLR3K NA nonsynonymous SNV POLR3K:NM_016310:exon1:c.T70G:p.S24A exonic ENSG00000161980 NA nonsynonymous SNV ENSG00000161980:ENST00000293860:exon1:c.T70G:p.S24A Score=599;Name=lod=363 NA 16p13.3 NA Name=ETS1,HEY1,ELF1_(SC-631),Pol2-4H8,NFKB,TAF1,E2F6_(H-50),POU2F2,E2F6,HA-E2F1,USF1_(SC-8983),USF-1,Pol2(phosphoS2),Pol2,BAF155,GTF2F1_(RAP-74),TBP,CCNT2,Mxi1_(bHLH),Sin3Ak-20,c-Myc,Oct-2,Max NA NA rs183360 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.82 T 0.0 B 0.001 B 0.000 N 0.000 P -0.53 N 1.4 T -0.951 T 0.000 T 0.213 0.817 8.287 5.06 1.270 4.538 14.082 0.816821 NA 0.23 NA NA NA 0.92 NA 10.3333334 627 19 36243089 36243089 T C exonic LIN37 NA nonsynonymous SNV LIN37:NM_019104:exon2:c.T47C:p.V16A exonic ENSG00000267796 NA nonsynonymous SNV ENSG00000267796:ENST00000301159:exon2:c.T47C:p.V16A,ENSG00000267796:ENST00000587751:exon2:c.T5C:p.V2A,ENSG00000267796:ENST00000595455:exon2:c.T47C:p.V16A Score=529;Name=lod=188 NA 19q13.12 Score=834;Name=V$HNF4_01_B NA NA NA rs170758 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T . . . . 0.003 N 0.000 P . . 1.72 T -0.901 T 0.000 T 0.086 0.41 6.225 5.41 1.529 1.402 9.166 0.409688 NA 1 NA NA NA 0.986 NA 10.3333334 627 19 58948579 58948579 T C exonic ZNF132 NA nonsynonymous SNV ZNF132:NM_003433:exon2:c.A67G:p.T23A exonic ENSG00000131849 NA nonsynonymous SNV ENSG00000131849:ENST00000254166:exon2:c.A67G:p.T23A NA NA 19q13.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71 T 0.0 B 0.001 B . . 1.000 N 0 N 3.46 T -0.918 T 0.006 T 0.1 1.03 9.206 -5.63 -1.147 -0.441 0.127 1.029752 NA 0.53 NA NA NA NA NA 10.3333334 627 22 24717850 24717850 A G exonic SPECC1L NA nonsynonymous SNV SPECC1L:NM_001145468:exon4:c.A902G:p.D301G,SPECC1L:NM_001254732:exon4:c.A902G:p.D301G,SPECC1L:NM_015330:exon5:c.A902G:p.D301G exonic ENSG00000100014,ENSG00000258555 NA nonsynonymous SNV ENSG00000100014:ENST00000421374:exon4:c.A902G:p.D301G,ENSG00000100014:ENST00000437398:exon4:c.A902G:p.D301G,ENSG00000100014:ENST00000541492:exon4:c.A902G:p.D301G,ENSG00000100014:ENST00000314328:exon5:c.A902G:p.D301G,ENSG00000258555:ENST00000358654:exon5:c.A902G:p.D301G Score=272;Name=lod=17 NA 22q11.23 Score=881;Name=V$GATA1_05 NA NA NA rs204710 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.86 T 0.0 B 0.0 B 0.000 N 0.992 P 0.345 N 3.27 T -0.947 T 0.000 T 0.353 -0.228 2.896 4.72 1.334 6.930 12.974 -0.22848 NA 0.88 NA NA NA 1 NA 10.3333334 627 X 154456747 154456747 A G exonic VBP1 NA nonsynonymous SNV VBP1:NM_003372:exon4:c.A367G:p.M123V exonic ENSG00000155959 NA nonsynonymous SNV ENSG00000155959:ENST00000286428:exon4:c.A367G:p.M123V,ENSG00000155959:ENST00000535916:exon5:c.A352G:p.M118V Score=615;Name=lod=423 NA Xq28 NA NA NA NA rs572013 1 1 1 NA NA NA NA NA NA 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.37 N 1.64 T -0.960 T 0.000 T 0.474 0.008 4.055 5.05 1.064 7.595 10.926 0.00785 NA 1 NA NA NA 0.746 NA 10.3333334 627 2 86088333 86088333 T C exonic ST3GAL5 NA nonsynonymous SNV ST3GAL5:NM_001042437:exon3:c.A220G:p.M74V,ST3GAL5:NM_003896:exon3:c.A289G:p.M97V exonic ENSG00000115525 NA nonsynonymous SNV ENSG00000115525:ENST00000306262:exon3:c.A289G:p.M97V,ENSG00000115525:ENST00000377332:exon3:c.A289G:p.M97V,ENSG00000115525:ENST00000393805:exon3:c.A205G:p.M69V,ENSG00000115525:ENST00000393808:exon3:c.A220G:p.M74V,ENSG00000115525:ENST00000455892:exon3:c.A205G:p.M69V,ENSG00000115525:ENST00000525834:exon3:c.A289G:p.M97V NA NA 2p11.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008246 NA 0.05 D 0.023 B 0.006 B 0.514 N 1.000 N 0.205 N 1.68 T -0.976 T 0.052 T 0.168 1.436 10.74 -10.2 -1.761 -0.531 10.818 1.436269 1.436269 0.03 NA NA NA NA NA 10.3333252 627 4 79353667 79353667 G A exonic FRAS1 NA nonsynonymous SNV FRAS1:NM_001166133:exon38:c.G5126A:p.R1709Q,FRAS1:NM_025074:exon38:c.G5126A:p.R1709Q exonic ENSG00000138759 NA nonsynonymous SNV ENSG00000138759:ENST00000264895:exon38:c.G5126A:p.R1709Q,ENSG00000138759:ENST00000325942:exon38:c.G5126A:p.R1709Q NA NA 4q21.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000009129 NA 0.44 T 0.007 B 0.002 B 0.225 N 1.000 N 0.665 N 0.73 T -0.876 T 0.067 T 0.15 -0.599 1.323 -12.3 -6.868 -1.235 8.990 -0.598996 NA 0.58 NA NA NA NA NA 10.3333243 627 14 37736325 37736325 A G exonic MIPOL1 NA nonsynonymous SNV MIPOL1:NM_138731:exon5:c.A202G:p.S68G,MIPOL1:NM_001195296:exon6:c.A202G:p.S68G,MIPOL1:NM_001195297:exon6:c.A202G:p.S68G exonic ENSG00000151338 NA nonsynonymous SNV ENSG00000151338:ENST00000537471:exon4:c.A202G:p.S68G,ENSG00000151338:ENST00000545536:exon4:c.A109G:p.S37G,ENSG00000151338:ENST00000556615:exon4:c.A202G:p.S68G,ENSG00000151338:ENST00000556753:exon4:c.A202G:p.S68G,ENSG00000151338:ENST00000327441:exon5:c.A202G:p.S68G,ENSG00000151338:ENST00000539062:exon5:c.A109G:p.S37G,ENSG00000151338:ENST00000555870:exon5:c.A109G:p.S37G,ENSG00000151338:ENST00000396294:exon6:c.A202G:p.S68G,ENSG00000151338:ENST00000556451:exon6:c.A109G:p.S37G NA NA 14q13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000168 NA 0.15 T 0.001 B 0.002 B 0.982 N 1.000 N 1.5 L 0.86 T -1.000 T 0.084 T 0.218 0.134 4.723 -5.46 -0.988 -0.612 3.947 0.134367 NA 0.24 NA NA NA NA NA 10.3333166 627 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 627 14 64954410 64954410 G A exonic ZBTB25 NA nonsynonymous SNV ZBTB25:NM_006977:exon3:c.C539T:p.T180I exonic ENSG00000089775 NA nonsynonymous SNV ENSG00000089775:ENST00000261683:exon3:c.C539T:p.T180I,ENSG00000089775:ENST00000394715:exon6:c.C539T:p.T180I NA NA 14q23.3 NA Name=NRSF,CTCF NA NA rs151164177 NA NA NA 0.000399361 NA NA NA NA 0.002 NA NA NA NA 0.0008 0.0012 0.3 T 0.09 B 0.029 B 0.569 N 0.997 N 0.345 N 1.85 T -1.029 T 0.046 T 0.167 1.675 11.56 4.17 0.848 2.572 17.636 1.674949 1.674949 0.05 0.001163 0.000227 NA NA NA 10.3313704 627 2 118578824 118578824 A G exonic DDX18 NA nonsynonymous SNV DDX18:NM_006773:exon4:c.A602G:p.N201S exonic ENSG00000088205 NA nonsynonymous SNV ENSG00000088205:ENST00000263239:exon4:c.A602G:p.N201S Score=641;Name=lod=538 NA 2q14.1 NA NA NA NA rs41279756 0.0009 0.0009 NA 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0007 0.0026 0.67 T 0.0 B 0.0 B 0.005 N 0.938 N 1.445 L 4.61 T -0.929 T 0.007 T 0.045 1.378 10.54 2.56 0.459 3.611 8.783 1.378209 1.378209 0.67 0.001513 0.000454 NA NA NA 10.3291204 627 3 52821210 52821210 C T exonic ITIH1 NA nonsynonymous SNV ITIH1:NM_001166435:exon11:c.C1031T:p.P344L,ITIH1:NM_001166436:exon11:c.C1031T:p.P344L,ITIH1:NM_001166434:exon13:c.C1469T:p.P490L,ITIH1:NM_002215:exon15:c.C1895T:p.P632L exonic ENSG00000055957 NA nonsynonymous SNV ENSG00000055957:ENST00000537050:exon11:c.C1031T:p.P344L,ENSG00000055957:ENST00000540715:exon13:c.C1469T:p.P490L,ENSG00000055957:ENST00000273283:exon15:c.C1895T:p.P632L NA NA 3p21.1 NA NA NA NA rs140154114 0.0014 0.0014 NA 0.000599042 0.002 NA NA 0.0008 NA 0.0026 NA NA 0.002 0.001 0.0026 0.38 T 0.001 B 0.001 B 0.008 N 1.000 N -0.55 N 4.84 T -0.921 T 0.003 T 0.599 -0.908 0.422 -8.65 -2.148 -5.615 6.862 -0.908031 NA 0.36 0.001977 0.000227 NA NA NA 10.3283564 627 5 175995711 175995711 C A exonic CDHR2 NA nonsynonymous SNV CDHR2:NM_001171976:exon4:c.C157A:p.Q53K,CDHR2:NM_017675:exon4:c.C157A:p.Q53K exonic ENSG00000074276 NA nonsynonymous SNV ENSG00000074276:ENST00000506348:exon3:c.C157A:p.Q53K,ENSG00000074276:ENST00000261944:exon4:c.C157A:p.Q53K,ENSG00000074276:ENST00000510636:exon4:c.C157A:p.Q53K NA NA 5q35.2 NA NA NA NA rs114185037 0.01 0.01 0.009 0.0185703 NA NA 0.0159 0.062 NA NA NA 0.01 0.06 0.005 0.06 0.87 T 0.002 B 0.004 B . . 1.000 N 0.745 N 0.25 T -1.048 T 0.010 T 0.112 -0.237 2.855 -9.11 -1.968 -2.785 6.009 -0.237467 NA 0.55 0.000116 0.056741 NA 0.043 NA 10.3282174 627 1 151337690 151337690 G C exonic SELENBP1 NA nonsynonymous SNV SELENBP1:NM_001258288:exon9:c.C926G:p.S309C,SELENBP1:NM_001258289:exon10:c.C1238G:p.S413C,SELENBP1:NM_003944:exon10:c.C1112G:p.S371C exonic ENSG00000143416 NA nonsynonymous SNV ENSG00000143416:ENST00000447402:exon9:c.C926G:p.S309C,ENSG00000143416:ENST00000368868:exon10:c.C1112G:p.S371C,ENSG00000143416:ENST00000426705:exon10:c.C1238G:p.S413C,ENSG00000143416:ENST00000435071:exon10:c.C920G:p.S307C NA NA 1q21.3 NA Name=CTCF Name=2 NA rs146726959 0.0027 0.0027 NA 0.00139776 0.003 NA 0.0058 NA NA 0.01 NA 0.01 NA 0.0015 0.01 0.22 T 0.001 B 0.002 B 0.379 N 1.000 N -0.11 N . . -1.055 T 0.032 T 0.18 0.479 6.598 -2.99 -0.355 -0.735 22.513 0.478665 NA 0.21 0.001395 0.001362 NA NA NA 10.3274384 627 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 627 14 65253232 65253232 T C exonic SPTB NA nonsynonymous SNV SPTB:NM_000347:exon15:c.A3451G:p.N1151D,SPTB:NM_001024858:exon15:c.A3451G:p.N1151D exonic ENSG00000070182 NA nonsynonymous SNV ENSG00000070182:ENST00000389720:exon15:c.A3451G:p.N1151D,ENSG00000070182:ENST00000389721:exon15:c.A3451G:p.N1151D,ENSG00000070182:ENST00000389722:exon15:c.A3451G:p.N1151D,ENSG00000070182:ENST00000542895:exon16:c.A3451G:p.N1151D,ENSG00000070182:ENST00000556626:exon16:c.A3451G:p.N1151D Score=444;Name=lod=85 NA 14q23.3 NA NA Name=5 NA rs77806 0.39 0.39 0.417 0.469449 0.3668 0.4018 0.2896 0.702 0.4581 0.31 0.36 0.25 0.65 0.3381 0.65 0.46 T 0.0 B 0.003 B 0.020 N 1.000 P -0.315 N 1.44 T -0.975 T 0.000 T 0.035 -0.378 2.221 4.89 1.210 0.240 7.317 -0.378429 NA 0.56 0.301279 0.605765 NA 0.348 NA 10.3271544 627 9 113457799 113457799 A G exonic MUSK NA nonsynonymous SNV MUSK:NM_001166280:exon4:c.A475G:p.S159G,MUSK:NM_001166281:exon4:c.A475G:p.S159G,MUSK:NM_005592:exon4:c.A475G:p.S159G exonic ENSG00000030304 NA nonsynonymous SNV ENSG00000030304:ENST00000374439:exon2:c.A121G:p.S41G,ENSG00000030304:ENST00000189978:exon4:c.A475G:p.S159G,ENSG00000030304:ENST00000374440:exon4:c.A121G:p.S41G,ENSG00000030304:ENST00000374448:exon4:c.A475G:p.S159G,ENSG00000030304:ENST00000416899:exon4:c.A475G:p.S159G NA NA 9q31.3 NA NA NA NA rs35176182 0.12 0.12 0.101 0.111422 0.1441 0.2034 0.0663 0.0061 0.1575 0.15 0.19 0.09 0.01 0.2084 0.19 0.3 T 0.473 P 0.046 B 0.150 N 1.000 P -0.7 N -0.43 T -1.084 T 0.000 T 0.057 0.848 8.427 3.38 0.406 1.158 8.048 0.847801 NA 0.16 0.153704 0.032985 NA 0.123 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117648.1;CLNDSDB=.;CLNDSDBID=. 10.3271294 627 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 628 1 160851826 160851826 A T exonic ITLN1 NA nonsynonymous SNV ITLN1:NM_017625:exon4:c.T326A:p.V109D exonic ENSG00000179914 NA nonsynonymous SNV ENSG00000179914:ENST00000326245:exon4:c.T326A:p.V109D Score=505;Name=lod=150 NA 1q23.3 Score=761;Name=V$PAX5_02 Name=Egr-1 NA NA rs2274907 0.61 0.61 0.583 0.58127 0.6779 0.6935 0.696 0.3275 0.6278 0.68 0.72 0.66 0.34 0.6487 0.72 0.87 T 0.0 B 0.0 B 0.010 N 0.975 P -2.655 N 2.86 T -0.950 T 0.001 T 0.088 -0.277 2.672 4.17 0.638 1.547 8.262 -0.277429 NA 0.74 0.68186 0.376759 NA 0.594 NA 10.3248734 628 15 48623812 48623812 G A exonic DUT NA nonsynonymous SNV DUT:NM_001025248:exon1:c.G100A:p.E34K exonic ENSG00000128951 NA nonsynonymous SNV ENSG00000128951:ENST00000331200:exon1:c.G100A:p.E34K,ENSG00000128951:ENST00000558472:exon1:c.G100A:p.E34K,ENSG00000128951:ENST00000558978:exon1:c.G100A:p.E34K NA NA 15q21.1 NA Name=ETS1,TAF1,NFKB,Pol2-4H8,E2F6_(H-50),Pol2,Pol2(b),Sin3Ak-20,NRSF Name=147 NA rs28381099 0.01 0.01 0.007 0.00379393 0.003 0.0149 NA NA 0.001 0.004 0.02 NA 0.01 0.0046 0.02 0 D 0.007 B 0.002 B 0.432 N 1.000 N 0.805 L 0.67 T -1.003 T 0.042 T 0.256 2.563 14.53 -0.919 -0.160 0.756 6.986 2.562745 2.562745 0 0.001186 0.000311 NA NA NA 10.3245474 628 14 94088266 94088266 G A exonic UNC79 NA nonsynonymous SNV UNC79:NM_020818:exon30:c.G4156A:p.E1386K exonic ENSG00000133958 NA nonsynonymous SNV ENSG00000133958:ENST00000256339:exon30:c.G4156A:p.E1386K,ENSG00000133958:ENST00000393151:exon30:c.G4687A:p.E1563K,ENSG00000133958:ENST00000555664:exon30:c.G4687A:p.E1563K,ENSG00000133958:ENST00000553484:exon31:c.G4753A:p.E1585K Score=361;Name=lod=39 NA 14q32.12 NA NA NA NA rs78490074 0.0023 0.0023 NA 0.00139776 0.005 NA 0.0014 NA 0.001 0.01 NA 0.0028 NA 0.0036 0.01 0.72 T 0.001 B 0.002 B 0.000 N 0.512 N 0.895 L 2.18 T -1.038 T 0.024 T 0.276 0.936 8.815 4.16 0.865 5.281 12.273 0.936078 NA 0.5 0.003488 0.000908 NA NA NA 10.3212454 628 16 69377470 69377470 A G exonic TMED6 NA nonsynonymous SNV TMED6:NM_144676:exon4:c.T563C:p.M188T exonic ENSG00000157315 NA nonsynonymous SNV ENSG00000157315:ENST00000288025:exon4:c.T563C:p.M188T Score=526;Name=lod=183 NA 16q22.1 Score=680;Name=V$PPARG_02 NA NA NA rs72795291 0.0041 0.0041 NA 0.00199681 0.005 NA 0.0058 NA 0.001 0.01 NA 0.01 NA 0.0026 0.01 0.41 T 0.0 B 0.001 B 0.098 N 1.000 N 0 N 2.41 T -0.981 T 0.012 T 0.055 0.508 6.752 -3.38 -0.504 -0.101 9.122 0.507506 NA 0.6 0.004651 0 NA 0.058 NA 10.3210824 628 19 18701700 18701700 G A exonic C19orf60 NA nonsynonymous SNV C19orf60:NM_001100418:exon4:c.G490A:p.A164T,C19orf60:NM_001100419:exon4:c.G424A:p.A142T exonic ENSG00000006015 NA nonsynonymous SNV ENSG00000006015:ENST00000595490:exon2:c.G119A:p.G40D,ENSG00000006015:ENST00000358607:exon4:c.G490A:p.A164T,ENSG00000006015:ENST00000450195:exon4:c.G424A:p.A142T NA NA 19p13.11 NA Name=E2F6_(H-50),CTCF,ZBTB7A_(SC-34508),CTCFL_(SC-98982),SMC3_(ab9263),Rad21 Name=107 NA rs34613961 NA NA NA 0.00159744 0.002 NA 0.0014 0.0015 0.0031 NA NA NA NA 0.0055 0.0069 0.59 T 0.003 B 0.005 B 0.951 N 1.000 N -1.61 N . . -1.001 T 0.011 T 0.01 -0.1 3.512 -3.06 -0.778 -0.102 3.422 -0.099538 NA 0.26 0.006854 0.001907 NA NA NA 10.3189794 628 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 628 12 6630988 6630988 A G exonic NCAPD2 NA nonsynonymous SNV NCAPD2:NM_014865:exon15:c.A1739G:p.K580R exonic ENSG00000010292 NA nonsynonymous SNV ENSG00000010292:ENST00000382457:exon12:c.A1355G:p.K452R,ENSG00000010292:ENST00000545962:exon14:c.A1604G:p.K535R,ENSG00000010292:ENST00000315579:exon15:c.A1739G:p.K580R NA NA 12p13.31 NA NA NA NA rs17725914 0.0005 0.0005 NA 0.00119808 0.002 NA 0.0029 0.0008 0.001 NA NA NA 0.002 0.0053 0.0083 0.5 T 0.039 B 0.015 B 0.908 N 1.000 N 0 N 2.48 T -1.054 T 0.032 T 0.202 0.371 6.017 4.93 1.852 1.745 12.828 0.371444 NA 0.48 0.008256 0.001362 NA NA NA 10.3177774 628 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=NFKB,Pol2-4H8,PRDM1_(Val90),Pol2,POU2F2,TBP,Oct-2,IRF1 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 628 2 62362995 62362995 T C exonic COMMD1 NA synonymous SNV COMMD1:NM_152516:exon3:c.T492C:p.D164D exonic ENSG00000173163 NA synonymous SNV ENSG00000173163:ENST00000311832:exon3:c.T492C:p.D164D Score=566;Name=lod=265 NA 2p15 NA NA NA NA rs9096 0.06 0.06 0.071 0.0459265 0.1342 NA 0.0605 0.0303 0.0133 0.12 NA 0.08 0.04 0.088 0.13 . . . . . . . . 0.000 P . . . . . . . . . 1.356 10.46 5.76 2.326 3.541 12.753 1.356079 1.356079 NA 0.127674 0.039492 NA 0.022 NA 10.3167926 628 17 42927721 42927721 G A exonic HIGD1B NA nonsynonymous SNV HIGD1B:NM_016438:exon3:c.G257A:p.S86N,HIGD1B:NM_001271880:exon4:c.G257A:p.S86N exonic ENSG00000131097 NA nonsynonymous SNV ENSG00000131097:ENST00000587021:exon2:c.G122A:p.S41N,ENSG00000131097:ENST00000253410:exon3:c.G257A:p.S86N,ENSG00000131097:ENST00000591513:exon4:c.G257A:p.S86N Score=401;Name=lod=57 NA 17q21.31 NA NA NA NA rs1071682 0.23 0.23 0.225 0.22524 0.3439 0.0843 0.2334 0.1959 0.2822 0.33 0.08 0.3 0.21 0.311 0.36 0.21 T 0.0 B 0.0 B 0.010 N 0.000 P . . 1.55 T -0.945 T 0.000 T 0.016 0.76 8.023 4.23 1.112 1.774 7.524 0.760046 NA NA 0.361744 0.220381 NA 0.188 NA 10.3166894 628 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 629 5 180486785 180486785 G C exonic BTNL9 NA nonsynonymous SNV BTNL9:NM_152547:exon11:c.G1531C:p.G511R exonic ENSG00000165810 NA nonsynonymous SNV ENSG00000165810:ENST00000327705:exon11:c.G1531C:p.G511R,ENSG00000165810:ENST00000376842:exon11:c.G1534C:p.G512R NA NA 5q35.3 NA Name=Rad21 Name=3 NA rs10068763 0.69 0.69 0.693 0.766174 0.6471 0.7321 0.6369 0.8865 0.8528 0.6 0.69 0.64 0.85 0.7113 0.86 0.61 T 0.0 B 0.0 B 0.263 N 1.000 P 0.55 N 1.09 T -1.026 T 0.000 T 0.05 -1.837 0.009 -9.09 -2.458 -4.312 2.607 -1.837085 NA 0.66 0.660233 0.86149 NA 0.601 NA 10.3147004 629 10 99968670 99968670 A G exonic R3HCC1L NA nonsynonymous SNV R3HCC1L:NM_001256620:exon4:c.A799G:p.T267A,R3HCC1L:NM_014472:exon4:c.A799G:p.T267A,R3HCC1L:NM_001256619:exon5:c.A799G:p.T267A,R3HCC1L:NM_138469:exon5:c.A799G:p.T267A exonic ENSG00000166024 NA nonsynonymous SNV ENSG00000166024:ENST00000370584:exon4:c.A799G:p.T267A,ENSG00000166024:ENST00000298999:exon5:c.A799G:p.T267A NA NA 10q24.2 NA NA NA NA rs34530959 0.0023 0.0023 NA 0.0071885 0.005 NA 0.0029 NA 0.0297 0.004 NA 0.01 NA 0.0078 0.022 . . 0.032 B 0.014 B 0.167 N 1.000 N 0.895 L 3.25 T -1.001 T 0.011 T 0.04 -0.363 2.291 -7.45 -1.426 -1.625 9.844 -0.362511 NA 0.21 0.007093 0.001135 NA 0.014 NA 10.3134404 629 1 57395228 57395228 G A exonic C8B NA nonsynonymous SNV C8B:NM_000066:exon12:c.C1625T:p.T542I exonic ENSG00000021852 NA nonsynonymous SNV ENSG00000021852:ENST00000371237:exon12:c.C1625T:p.T542I,ENSG00000021852:ENST00000535057:exon13:c.C1439T:p.T480I,ENSG00000021852:ENST00000543257:exon13:c.C1469T:p.T490I NA NA 1p32.2 Score=798;Name=V$SRF_01 NA NA NA rs61737417 0.0027 0.0027 0.003 0.00259585 0.006 NA 0.0029 0.0015 0.0031 0.01 NA 0.0028 0.002 0.005 0.01 0.24 T 0.0 B 0.0 B 0.253 N 1.000 N -0.625 N 1.83 T -1.038 T 0.018 T 0.139 -2.548 0.003 3.75 0.808 2.198 2.259 -2.548325 NA 0.83 0.009419 0.001816 NA NA NA 10.3129144 629 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 629 10 116046066 116046066 C T exonic VWA2 NA nonsynonymous SNV VWA2:NM_001272046:exon11:c.C1366T:p.H456Y exonic ENSG00000165816 NA nonsynonymous SNV ENSG00000165816:ENST00000392982:exon11:c.C1366T:p.H456Y,ENSG00000165816:ENST00000603594:exon11:c.C1366T:p.H456Y NA NA 10q25.3 Score=869;Name=V$NFE2_01 NA NA NA rs141860499 0.0041 0.0041 0.004 0.00439297 0.0099 NA 0.0173 NA NA 0.01 NA 0.01 NA 0.0046 0.011 0.92 T 0.243 B 0.185 B 0.940 N 1.000 N 0.55 N -1.66 D -0.851 T 0.239 T 0.106 0.813 8.267 1.12 0.628 1.083 7.921 0.812548 NA 0.05 0.008607 0.002724 NA 0.007 NA 10.3102264 629 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 629 19 51323473 51323473 C G exonic KLK1 NA nonsynonymous SNV KLK1:NM_002257:exon3:c.G433C:p.E145Q exonic ENSG00000167748 NA nonsynonymous SNV ENSG00000167748:ENST00000301420:exon3:c.G433C:p.E145Q,ENSG00000167748:ENST00000448701:exon4:c.G127C:p.E43Q NA NA 19q13.33 NA Name=E2F6,E2F6_(H-50) Name=8 NA rs5516 0.71 0.71 0.687 0.692692 0.672 0.8036 0.7478 0.6225 0.6554 0.68 0.82 0.75 0.59 0.6857 0.82 0.51 T 0.0 B 0.005 B . . 1.000 P 0.54 N -2.42 D -0.987 T 0.000 T 0.086 -1.214 0.065 -3.94 -0.924 -1.964 9.555 -1.214201 NA 1 0.668837 0.629142 NA 0.717 NA 10.3067964 629 12 15776164 15776164 A C exonic EPS8 NA nonsynonymous SNV EPS8:NM_004447:exon20:c.T2283G:p.D761E exonic ENSG00000151491 NA nonsynonymous SNV ENSG00000151491:ENST00000540613:exon13:c.T1503G:p.D501E,ENSG00000151491:ENST00000542903:exon13:c.T1503G:p.D501E,ENSG00000151491:ENST00000281172:exon20:c.T2283G:p.D761E,ENSG00000151491:ENST00000543612:exon20:c.T2283G:p.D761E,ENSG00000151491:ENST00000543523:exon21:c.T2283G:p.D761E Score=616;Name=lod=427 NA 12p12.3 NA NA NA NA rs7137185 0.0041 0.0041 NA 0.00439297 0.008 0.001 0.013 NA 0.0041 0.01 NA 0.01 NA 0.0074 0.012 1 T 0.0 B 0.002 B 0.000 D 0.977 D 0.27 N 2.36 T -0.977 T 0.012 T 0.239 0.748 7.966 1.88 0.445 0.214 6.504 0.747928 NA 1 0.011744 0.001362 NA 0.036 NA 10.3061894 629 3 42679486 42679486 A G exonic NKTR NA nonsynonymous SNV NKTR:NM_005385:exon13:c.A2290G:p.K764E exonic ENSG00000114857 NA nonsynonymous SNV ENSG00000114857:ENST00000232978:exon13:c.A2290G:p.K764E NA NA 3p22.1 NA NA NA NA rs150528581 0.0046 0.0046 NA 0.00279553 0.007 NA 0.0101 NA NA 0.01 NA 0.01 NA 0.0077 0.013 0.01 D 0.019 B 0.011 B 0.181 N 1.000 N 1.905 M 2.73 T -1.030 T 0.023 T 0.062 0.233 5.258 0.224 0.083 1.871 6.719 0.233021 NA 0 0.012558 0.002951 NA 0.007 NA 10.3060754 630 22 46860063 46860063 C T exonic CELSR1 NA nonsynonymous SNV CELSR1:NM_014246:exon2:c.G3724A:p.V1242I exonic ENSG00000075275 NA nonsynonymous SNV ENSG00000075275:ENST00000262738:exon2:c.G3724A:p.V1242I,ENSG00000075275:ENST00000395964:exon2:c.G3724A:p.V1242I Score=576;Name=lod=291 NA 22q13.31 Score=726;Name=V$NRSF_01 NA NA NA rs6008842 0.04 0.04 0.045 0.0519169 0.005 NA 0.013 0.1831 0.0041 0.01 NA 0.01 0.17 0.0179 0.17 0.6 T 0.356 B 0.049 B 0.020 N 0.988 P 0.535 N -0.21 T -1.095 T 0.000 T 0.112 1.034 9.222 1.14 0.411 1.627 5.814 1.033661 NA 0.69 0.006628 0.134362 NA 0.065 NA 10.3038054 630 7 133932357 133932357 T C exonic LRGUK NA nonsynonymous SNV LRGUK:NM_144648:exon17:c.T2033C:p.M678T exonic ENSG00000155530 NA nonsynonymous SNV ENSG00000155530:ENST00000285928:exon17:c.T2033C:p.M678T Score=383;Name=lod=48 NA 7q33 NA NA NA NA rs34904752 0.01 0.01 0.005 0.00379393 0.0119 NA 0.0072 0.0008 0.001 0.01 NA 0.01 NA 0.0086 0.011 0.56 T 0.039 B 0.023 B 0.206 N 0.990 N 1.78 L 1.3 T -1.006 T 0.053 T 0.194 0.944 8.847 3.38 0.432 1.161 6.247 0.943755 NA 0.63 0.010698 0.002497 NA NA NA 10.3021354 630 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$AHRARNT_01 Name=CTCF Name=25 NA rs11247975 0.58 0.58 0.601 0.554513 0.6839 0.6756 0.7089 0.2284 0.6278 0.68 0.7 0.67 0.23 0.6624 0.7 0.91 T 0.009 B 0.019 B 0.036 N 0.998 P . . 1.04 T -1.020 T 0.000 T 0.027 0.628 7.379 -8.23 -2.550 0.841 10.976 0.628442 NA 0.39 0.68635 0.313008 NA 0.174 NA 10.3006834 630 17 4856376 4856376 A G exonic ENO3 NA nonsynonymous SNV ENO3:NM_001976:exon4:c.A212G:p.N71S,ENO3:NM_053013:exon4:c.A212G:p.N71S exonic ENSG00000108515 NA nonsynonymous SNV ENSG00000108515:ENST00000518175:exon3:c.A212G:p.N71S,ENSG00000108515:ENST00000323997:exon4:c.A212G:p.N71S,ENSG00000108515:ENST00000519602:exon4:c.A212G:p.N71S,ENSG00000108515:ENST00000520221:exon4:c.A212G:p.N71S,ENSG00000108515:ENST00000521811:exon4:c.A212G:p.N71S,ENSG00000108515:ENST00000522249:exon4:c.A212G:p.N71S,ENSG00000108515:ENST00000522301:exon4:c.A212G:p.N71S,ENSG00000108515:ENST00000522798:exon4:c.A212G:p.N71S Score=505;Name=lod=150 NA 17p13.2 Score=907;Name=V$FOXO4_01 NA NA NA rs238238 0.6 0.6 0.553 0.564097 0.6809 0.3988 0.7795 0.5499 0.4806 0.68 0.39 0.77 0.59 0.6493 0.77 0.24 T 0.0 B 0.001 B . . 0.000 P . . 1.57 T -1.022 T 0.000 T 0.074 2.283 13.59 5.4 2.176 3.651 13.651 2.282795 2.282795 0.25 0.705 0.598956 NA 0.71 NA 10.2981334 630 3 63968083 63968083 A G exonic ATXN7 NA nonsynonymous SNV ATXN7:NM_001128149:exon3:c.A539G:p.N180S,ATXN7:NM_001177387:exon6:c.A974G:p.N325S,ATXN7:NM_000333:exon7:c.A974G:p.N325S exonic ENSG00000163635 NA nonsynonymous SNV ENSG00000163635:ENST00000484332:exon3:c.A539G:p.N180S,ENSG00000163635:ENST00000538065:exon5:c.A974G:p.N325S,ENSG00000163635:ENST00000487717:exon6:c.A974G:p.N325S,ENSG00000163635:ENST00000295900:exon7:c.A974G:p.N325S,ENSG00000163635:ENST00000398590:exon7:c.A974G:p.N325S Score=590;Name=lod=333 NA 3p14.1 NA NA NA NA rs61736574 0.02 0.02 0.019 0.0201677 0.0119 NA 0.0086 0.0613 0.002 0.01 NA 0.01 0.05 0.014 0.06 0.41 T 0.0 B 0.004 B 0.159 N 0.992 N 0 N 2.63 T -0.986 T 0.002 T 0.023 -0.029 3.866 -4.65 -1.157 0.650 8.553 -0.028804 NA 0.43 0.010792 0.060464 NA 0.014 NA 10.2966414 631 15 90610934 90610934 C G exonic ZNF710 NA nonsynonymous SNV ZNF710:NM_198526:exon2:c.C565G:p.P189A exonic ENSG00000140548 NA nonsynonymous SNV ENSG00000140548:ENST00000268154:exon2:c.C565G:p.P189A Score=284;Name=lod=19 NA 15q26.1 NA NA NA NA rs151314806 0.01 0.01 0.005 0.0071885 0.0139 NA 0.0058 0.0023 0.0153 0.02 NA 0.01 0.0041 0.0125 0.02 1 T 0.0 B 0.0 B 0.036 N 0.993 N 0 N 3.12 T -0.955 T 0.006 T 0.018 0.02 4.116 3.02 1.324 0.298 3.174 0.019767 NA 0.09 0.012992 0.002084 ID=COSM289511;OCCURENCE=1(large_intestine) NA NA 10.2939414 631 5 33881252 33881252 G A exonic ADAMTS12 NA nonsynonymous SNV ADAMTS12:NM_030955:exon2:c.C461T:p.T154M exonic ENSG00000151388 NA nonsynonymous SNV ENSG00000151388:ENST00000352040:exon2:c.C461T:p.T154M,ENSG00000151388:ENST00000504830:exon2:c.C461T:p.T154M,ENSG00000151388:ENST00000515401:exon2:c.C461T:p.T154M NA NA 5p13.2 Score=751;Name=V$SEF1_C NA NA NA rs117518215 0.03 0.03 0.025 0.0325479 0.0119 0.0823 0.0101 0.0121 0.046 0.01 0.07 0.01 0.01 0.0219 0.07 0.26 T 1.0 D 0.971 D 0.010 N 1.000 N 1.74 L 3.37 T -1.070 T 0.003 T 0.221 2.476 14.24 1.89 0.756 0.933 5.137 2.475501 2.475501 0.15 0.006628 0.008852 NA 0.007 NA 10.2929054 631 16 30680655 30680655 G A exonic FBRS NA nonsynonymous SNV FBRS:NM_001105079:exon12:c.G1072A:p.G358S exonic ENSG00000156860 NA nonsynonymous SNV ENSG00000156860:ENST00000568722:exon10:c.G808A:p.G270S,ENSG00000156860:ENST00000287468:exon12:c.G1072A:p.G358S,ENSG00000156860:ENST00000395073:exon12:c.G808A:p.G270S,ENSG00000156860:ENST00000356166:exon18:c.G2632A:p.G878S Score=483;Name=lod=122 NA 16p11.2 NA NA NA NA rs61738568 0.01 0.01 0.001 0.00439297 0.0109 NA 0.0086 0.0015 0.0031 0.01 NA 0.01 NA 0.0147 0.015 0.69 T 0.009 B 0.009 B 0.041 N 0.974 N 0 N 1.51 T -1.020 T 0.014 T 0.074 0.906 8.684 2.57 1.351 0.610 3.365 0.905839 NA 0 0.015406 0.002968 NA 0.007 NA 10.2923274 631 8 124448804 124448804 T A exonic WDYHV1 NA nonsynonymous SNV WDYHV1:NM_018024:exon4:c.T346A:p.F116I exonic ENSG00000156795 NA nonsynonymous SNV ENSG00000156795:ENST00000287387:exon4:c.T346A:p.F116I,ENSG00000156795:ENST00000523356:exon4:c.T346A:p.F116I,ENSG00000156795:ENST00000523984:exon4:c.T166A:p.F56I Score=524;Name=lod=180 NA 8q24.13 NA NA NA NA rs6470147 0.39 0.39 0.369 0.410144 0.3111 0.5863 0.3919 0.3427 0.4346 0.31 0.57 0.38 0.28 0.3798 0.57 0.1 T 0.092 B 0.047 B 0.000 D 0.000 P 1.56 L 2.33 T -0.966 T 0.000 T 0.256 2.212 13.35 4.42 0.810 3.135 7.202 2.211562 2.211562 0.14 0.352209 0.363141 ID=COSM150533;OCCURENCE=1(stomach) 0.304 NA 10.2902244 631 10 25701341 25701341 C G exonic GPR158 NA nonsynonymous SNV GPR158:NM_020752:exon4:c.C1274G:p.A425G exonic ENSG00000151025 NA nonsynonymous SNV ENSG00000151025:ENST00000376351:exon4:c.C1274G:p.A425G Score=550;Name=lod=229 NA 10p12.1 Score=707;Name=V$NRSF_01 NA NA NA rs2480345 0.47 0.47 0.457 0.490615 0.6948 0.1587 0.5029 0.4561 0.6605 0.7 0.14 0.54 0.44 0.6229 0.73 0.31 T 0.004 B 0.016 B 0.012 N 0.938 P 0.06 N 0.22 T -0.983 T 0.000 T 0.227 2.401 13.99 4.01 1.612 3.212 14.014 2.401024 2.401024 0.38 0.728372 0.479346 NA 0.594 NA 10.2872614 631 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 631 9 116132334 116132334 C T exonic BSPRY NA nonsynonymous SNV BSPRY:NM_017688:exon6:c.C1121T:p.T374I exonic ENSG00000119411 NA nonsynonymous SNV ENSG00000119411:ENST00000374183:exon6:c.C1121T:p.T374I NA NA 9q32 NA NA NA NA rs3088235 0.12 0.12 0.11 0.125799 0.1799 0.1448 0.0893 0.0068 0.2372 0.19 0.13 0.12 0.01 0.1732 0.19 0.52 T 0.714 P 0.34 B 0.000 D 1.000 P 1.82 L -0.46 T -1.069 T 0.000 T 0.161 -0.549 1.512 3.86 0.767 2.875 8.965 -0.549115 NA 0.01 0.193681 0.037405 NA 0.087 NA 10.2865524 632 17 45008570 45008570 G A exonic GOSR2 NA nonsynonymous SNV GOSR2:NM_001012511:exon3:c.G200A:p.R67K,GOSR2:NM_004287:exon3:c.G200A:p.R67K,GOSR2:NM_054022:exon3:c.G200A:p.R67K exonic ENSG00000108433,ENSG00000262633 NA nonsynonymous SNV ENSG00000108433:ENST00000225567:exon3:c.G200A:p.R67K,ENSG00000108433:ENST00000393456:exon3:c.G200A:p.R67K,ENSG00000108433:ENST00000415811:exon3:c.G200A:p.R67K,ENSG00000108433:ENST00000439730:exon3:c.G200A:p.R67K,ENSG00000262633:ENST00000571841:exon3:c.G200A:p.R67K,ENSG00000108433:ENST00000575949:exon3:c.G200A:p.R67K,ENSG00000108433:ENST00000576910:exon3:c.G200A:p.R67K,ENSG00000108433:ENST00000572403:exon4:c.G146A:p.R49K Score=509;Name=lod=156 NA 17q21.32 NA NA NA NA rs197922 0.33 0.33 0.323 0.346046 0.3648 0.3621 0.2507 0.2859 0.4591 0.35 0.36 0.25 0.31 0.351 0.36 1 T 0.001 B 0.002 B 0.000 N 0.998 P -1.04 N 1.77 T -0.963 T 0.000 T 0.149 0.8 8.208 4.78 0.548 3.772 9.229 0.799785 NA 1 0.333721 0.307308 NA 0.275 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117154.2;CLNDSDB=.;CLNDSDBID=. 10.2838124 632 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 632 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 632 15 29346242 29346242 G A exonic APBA2 NA nonsynonymous SNV APBA2:NM_001130414:exon3:c.G155A:p.R52Q,APBA2:NM_005503:exon3:c.G155A:p.R52Q exonic ENSG00000034053 NA nonsynonymous SNV ENSG00000034053:ENST00000558358:exon2:c.G155A:p.R52Q,ENSG00000034053:ENST00000411764:exon3:c.G155A:p.R52Q,ENSG00000034053:ENST00000558259:exon3:c.G155A:p.R52Q,ENSG00000034053:ENST00000560283:exon3:c.G155A:p.R52Q,ENSG00000034053:ENST00000558804:exon4:c.G155A:p.R52Q,ENSG00000034053:ENST00000561069:exon4:c.G155A:p.R52Q,ENSG00000034053:ENST00000558330:exon5:c.G155A:p.R52Q,ENSG00000034053:ENST00000558402:exon5:c.G155A:p.R52Q NA NA 15q13.1 NA NA NA NA rs117098828 0.01 0.01 0.003 0.00499201 0.0179 NA 0.0029 0.0008 0.0041 0.02 NA 0.01 NA 0.0144 0.02 0.06 T 0.007 B 0.004 B 0.035 N 1.000 N 2.045 M 0.86 T -0.977 T 0.056 T 0.135 2.071 12.88 2.21 0.156 2.998 2.239 2.070675 2.070675 0 0.018372 0.003404 NA 0.007 NA 10.2826614 632 X 23723711 23723711 C G exonic ACOT9 NA nonsynonymous SNV ACOT9:NM_001033583:exon12:c.G907C:p.E303Q,ACOT9:NM_001037171:exon13:c.G934C:p.E312Q exonic ENSG00000123130 NA nonsynonymous SNV ENSG00000123130:ENST00000473710:exon9:c.G685C:p.E229Q,ENSG00000123130:ENST00000336430:exon12:c.G907C:p.E303Q,ENSG00000123130:ENST00000379303:exon13:c.G934C:p.E312Q,ENSG00000123130:ENST00000379295:exon14:c.G727C:p.E243Q Score=533;Name=lod=196 NA Xp22.11 NA NA NA NA rs56378612 0.02 0.02 0.02226 NA NA NA NA NA NA 0.03 NA 0.02 0.02 0.0219 0.03 0.76 T 0.009 B 0.02 B 0.000 N 0.000 P 0.915 L 1.54 T -1.024 T 0.015 T 0.135 2.258 13.51 2.72 0.605 2.498 7.647 2.2583 2.2583 0.14 0.029132 0.016949 NA 0.029 NA 10.2823014 632 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 632 1 167097070 167097070 G A exonic DUSP27 NA nonsynonymous SNV DUSP27:NM_001080426:exon5:c.G2702A:p.R901H exonic ENSG00000198842 NA nonsynonymous SNV ENSG00000198842:ENST00000443333:exon5:c.G2702A:p.R901H,ENSG00000198842:ENST00000271385:exon6:c.G2702A:p.R901H,ENSG00000198842:ENST00000361200:exon6:c.G2702A:p.R901H Score=284;Name=lod=19 NA 1q24.1 NA NA NA NA rs61748781 0.01 0.01 0.009 0.00579073 0.0179 NA 0.0058 0.0008 0.0061 0.02 NA 0.01 0.002 0.0143 0.02 0 D 0.004 B 0.003 B 0.026 N 0.531 N 1.61 L 3.86 T -1.012 T 0.006 T 0.037 1.319 10.33 2.11 0.482 0.818 7.531 1.319292 1.319292 0.01 0.020349 0.003858 NA 0.014 NA 10.2807844 632 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 632 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 632 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 632 5 1065514 1065514 A G exonic SLC12A7 NA nonsynonymous SNV SLC12A7:NM_006598:exon18:c.T2321C:p.M774T exonic ENSG00000113504 NA nonsynonymous SNV ENSG00000113504:ENST00000264930:exon18:c.T2321C:p.M774T Score=549;Name=lod=227 NA 5p15.33 NA NA NA NA rs56350427 0.01 0.01 0.007 0.00519169 0.0209 NA 0.0014 NA 0.0041 0.03 NA 0.01 NA 0.0135 0.03 0.24 T 0.0 B 0.001 B 0.094 N 0.995 N 0.015 N -3.22 D -0.637 T 0.259 T 0.388 0.877 8.557 0.507 -0.143 1.824 7.179 0.876903 NA 0.11 0.022674 0.003177 NA 0.007 NA 10.2762594 632 11 1158092 1158092 C G intergenic MUC2,MUC5B dist=53675;dist=86203 NA NA exonic ENSG00000215182 NA nonsynonymous SNV ENSG00000215182:ENST00000534821:exon9:c.C1072G:p.Q358E,ENSG00000215182:ENST00000356191:exon14:c.C1063G:p.Q355E Score=420;Name=lod=68 NA 11p15.5 NA NA NA NA rs55863018 0.01 0.01 0.011 0.00758786 0.0258 NA 0.0144 0.0015 NA 0.02 NA 0.01 0.002 0.016 0.02 0.2 T 0.463 P 0.189 B . . . . 0.73 N 0.59 T -0.884 T 0.057 T 0.138 1.959 12.51 2.68 1.512 4.248 13.788 1.959202 1.959202 0.23 0.015837 0.004028 NA 0.007 NA 10.2756964 632 1 115417175 115417175 A G exonic SYCP1 NA nonsynonymous SNV SYCP1:NM_003176:exon9:c.A647G:p.N216S exonic ENSG00000198765 NA nonsynonymous SNV ENSG00000198765:ENST00000369518:exon9:c.A647G:p.N216S,ENSG00000198765:ENST00000369522:exon9:c.A647G:p.N216S,ENSG00000198765:ENST00000455987:exon9:c.A647G:p.N216S Score=522;Name=lod=177 NA 1p13.2 NA NA NA NA rs61730057 0.01 0.01 0.009 0.00658946 0.0219 NA 0.0159 NA NA 0.02 NA 0.02 NA 0.0126 0.023 0.49 T 0.024 B 0.033 B 0.002 N 0.999 N 0.6 N 0.57 T -0.995 T 0.032 T 0.022 1.631 11.41 2.73 0.352 1.548 6.583 1.63132 1.63132 0.54 0.023193 0.004087 NA NA NA 10.2756404 632 20 47990250 47990250 G C exonic KCNB1 NA nonsynonymous SNV KCNB1:NM_004975:exon2:c.C1847G:p.T616S exonic ENSG00000158445 NA nonsynonymous SNV ENSG00000158445:ENST00000371741:exon2:c.C1847G:p.T616S NA NA 20q13.13 NA NA NA NA rs2229006 0.01 0.01 0.005 0.00958466 0.0219 NA 0.0159 NA 0.0153 0.01 NA 0.01 NA 0.0162 0.02 0.5 T 0.0 B 0.001 B 0.297 N 1.000 N -0.205 N 2.02 T -1.018 T 0.015 T 0.018 -1.61 0.013 5.01 1.497 3.191 9.419 -1.610031 NA 0.85 0.019651 0.003858 NA 0.007 NA 10.2755824 632 11 58206714 58206714 C T exonic OR5B12 NA nonsynonymous SNV OR5B12:NM_001004733:exon1:c.G911A:p.G304E exonic ENSG00000172362 NA nonsynonymous SNV ENSG00000172362:ENST00000302572:exon1:c.G911A:p.G304E NA NA 11q12.1 NA NA NA NA rs117028468 0.01 0.01 0.006 0.00638978 0.0219 NA 0.0086 0.0008 0.0031 0.02 NA 0.01 0.002 0.0154 0.021 1 T 0.0 B 0.0 B 0.686 N 1.000 N 0.175 N 1.13 T -1.001 T 0.017 T 0.026 -2.766 0 -6.88 -1.421 -1.495 3.213 -2.766081 NA 1 0.020489 0.004089 NA NA NA 10.2755444 633 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 633 5 179229032 179229032 G A exonic MGAT4B NA nonsynonymous SNV MGAT4B:NM_054013:exon1:c.C80T:p.T27I exonic ENSG00000161013 NA nonsynonymous SNV ENSG00000161013:ENST00000337755:exon1:c.C80T:p.T27I,ENSG00000161013:ENST00000520918:exon1:c.C80T:p.T27I NA NA 5q35.3 NA Name=CTCF,TCF12,USF1_(SC-8983),USF-1,Pol2,USF2,BCLAF1_(M33-P5B11),GABP,Pol2-4H8,CTCF_(SC-5916),EBF1_(C-8),Znf143_(16618-1-AP),CTCF_(C-20),PAX5-C20,Rad21,YY1_(C-20),ZBTB33,Max,SMC3_(ab9263) Name=111 NA rs75359599 0.01 0.01 0.008 0.00698882 0.0219 NA 0.0086 0.0008 0.0061 0.02 NA 0.01 NA 0.0148 0.024 0 D 0.003 B 0.003 B 0.000 N 1.000 N 0 N 1.45 T -1.020 T 0.022 T 0.127 1.261 10.11 1.26 0.335 -0.035 3.577 1.261208 1.261208 0 0.02407 0.005677 NA 0.022 NA 10.2725634 633 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 633 17 76511089 76511089 C T exonic DNAH17 NA nonsynonymous SNV DNAH17:NM_173628:exon26:c.G3880A:p.E1294K exonic ENSG00000187775 NA nonsynonymous SNV ENSG00000187775:ENST00000389840:exon26:c.G3868A:p.E1290K,ENSG00000187775:ENST00000585328:exon26:c.G3871A:p.E1291K NA NA 17q25.3 Score=791;Name=V$CDP_01 NA NA NA rs61736352 0.01 0.01 0.009 0.0155751 0.0209 0.0149 0.0086 0.0008 0.0358 0.02 0.0017 0.01 NA 0.0214 0.02 0.27 T . . . . . . 1.000 N 1.385 L 0.09 T -0.939 T 0.115 T 0.077 2.14 13.11 5.31 2.476 0.935 13.314 2.140356 2.140356 0.8 0.019388 0.003544 NA 0.022 NA 10.2716454 633 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 633 15 40705225 40705225 C T exonic IVD NA synonymous SNV IVD:NM_001159508:exon6:c.C642T:p.D214D,IVD:NM_002225:exon7:c.C732T:p.D244D exonic ENSG00000128928 NA synonymous SNV ENSG00000128928:ENST00000491554:exon2:c.C120T:p.D40D,ENSG00000128928:ENST00000479013:exon6:c.C642T:p.D214D,ENSG00000128928:ENST00000249760:exon7:c.C723T:p.D241D,ENSG00000128928:ENST00000487418:exon7:c.C732T:p.D244D Score=561;Name=lod=254 NA 15q15.1 NA NA NA NA rs2229312 0.09 0.09 0.081 0.0790735 0.1421 0.0129 0.0821 0.0696 0.093 0.17 0.01 0.1 0.07 0.1164 0.17 . . . . . . . . 0.000 P . . . . -1.034 T 0.001 T . 0.975 8.979 5.66 2.673 0.420 7.408 0.974946 NA NA 0.136977 0.083296 NA 0.145 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080001.1;CLNDSDB=.;CLNDSDBID=. 10.2711896 633 12 62928633 62928633 G A exonic MON2 NA nonsynonymous SNV MON2:NM_015026:exon13:c.G1642A:p.A548T exonic ENSG00000061987 NA nonsynonymous SNV ENSG00000061987:ENST00000280379:exon13:c.G1642A:p.A548T,ENSG00000061987:ENST00000393629:exon13:c.G1642A:p.A548T,ENSG00000061987:ENST00000393630:exon13:c.G1642A:p.A548T,ENSG00000061987:ENST00000393632:exon13:c.G1642A:p.A548T,ENSG00000061987:ENST00000546600:exon13:c.G1642A:p.A548T,ENSG00000061987:ENST00000552115:exon13:c.G1642A:p.A548T,ENSG00000061987:ENST00000552738:exon13:c.G1642A:p.A548T Score=601;Name=lod=371 NA 12q14.1 NA NA NA NA rs10219555 0.36 0.36 0.352 0.347444 0.3549 0.3423 0.2954 0.3661 0.3569 0.36 0.37 0.32 0.36 0.3442 0.39 . . 0.199 B 0.075 B 0.005 N 0.000 P 1.355 L 0.52 T -0.982 T 0.000 T 0.308 2.931 15.77 4.93 2.435 3.775 11.944 2.931028 2.931028 0.04 0.364186 0.370177 NA 0.29 NA 10.2700474 633 22 19766782 19766782 C T exonic TBX1 NA nonsynonymous SNV TBX1:NM_080646:exon9:c.C1049T:p.T350M exonic ENSG00000184058 NA nonsynonymous SNV ENSG00000184058:ENST00000329705:exon9:c.C1049T:p.T350M NA NA 22q11.21 NA NA NA NA rs4819522 0.17 0.17 0.164 0.209265 0.169 0.119 0.255 0.1551 0.3845 0.17 0.12 0.23 0.18 0.2111 0.23 0.13 T 0.997 D 0.736 P . . 1.000 P 0.55 N -2.19 D -1.037 T 0.000 T 0.019 1.95 12.48 -3.37 -0.727 -0.716 3.511 1.950373 1.950373 0.02 0.183372 0.151158 ID=COSM1414906;OCCURENCE=1(large_intestine) 0.167 NA 10.2698614 633 7 5541009 5541009 C A exonic FBXL18 NA synonymous SNV FBXL18:NM_024963:exon3:c.G891T:p.L297L exonic ENSG00000155034 NA synonymous SNV ENSG00000155034:ENST00000382368:exon3:c.G891T:p.L297L,ENSG00000155034:ENST00000415009:exon3:c.G891T:p.L297L,ENSG00000155034:ENST00000453700:exon3:c.G891T:p.L297L Score=530;Name=lod=190 NA 7p22.1 Score=959;Name=V$MYOD_Q6 NA NA NA rs12667381 0.13 0.13 0.124 0.167931 0.1292 0.0308 0.1945 0.2428 0.229 0.13 0.03 0.17 0.23 0.1478 0.23 . . . . . . . . 0.000 P . . . . -1.094 T 0.000 T . 0.418 6.268 3.53 2.553 0.258 12.513 0.417598 NA NA 0.121851 0.229623 NA 0.167 NA 10.2678156 633 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 633 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 634 15 43317071 43317071 T C exonic UBR1 NA nonsynonymous SNV UBR1:NM_174916:exon25:c.A2695G:p.I899V exonic ENSG00000159459 NA nonsynonymous SNV ENSG00000159459:ENST00000290650:exon25:c.A2695G:p.I899V Score=560;Name=lod=251 NA 15q15.2 NA NA NA NA rs35069201 0.01 0.01 0.01 0.0129792 0.0209 NA 0.0086 0.0015 0.0368 0.02 NA 0.0028 0.0041 0.0194 0.03 0.95 T 0.0 B 0.0 B 0.174 N 1.000 D -1.445 N 0.82 T -0.995 T 0.009 T 0.104 -0.308 2.532 -2.07 -0.601 0.082 2.343 -0.308199 NA 1 0.03024 0.004766 NA 0.014 NA 10.2627934 634 19 56693620 56693620 C G exonic GALP NA nonsynonymous SNV GALP:NM_033106:exon4:c.C216G:p.I72M exonic ENSG00000197487 NA nonsynonymous SNV ENSG00000197487:ENST00000357330:exon4:c.C216G:p.I72M Score=278;Name=lod=18 NA 19q13.43 NA NA NA NA rs3745833 0.31 0.31 0.325 0.325479 0.3668 0.2302 0.3429 0.3366 0.3538 0.36 0.22 0.34 0.33 0.3435 0.36 0 D 0.905 P 0.599 P . . 0.000 P 0.895 L 0.46 T -1.050 T 0.000 T 0.055 1.649 11.47 -2.37 -0.762 0.003 0.128 1.649411 1.649411 0 0.361512 0.339537 NA 0.254 NA 10.2615214 634 6 34824636 34824636 A G exonic UHRF1BP1 NA nonsynonymous SNV UHRF1BP1:NM_017754:exon11:c.A1361G:p.Q454R exonic ENSG00000065060 NA nonsynonymous SNV ENSG00000065060:ENST00000192788:exon11:c.A1361G:p.Q454R,ENSG00000065060:ENST00000452449:exon11:c.A1361G:p.Q454R Score=317;Name=lod=26 NA 6p21.31 NA NA NA NA rs11755393 0.47 0.47 0.454 0.467652 0.3539 0.4583 0.3127 0.7723 0.2924 0.35 0.46 0.32 0.76 0.3681 0.76 0.62 T 0.0 B 0.0 B 0.741 N 1.000 P -0.69 N 3.14 T -0.902 T 0.003 T 0.034 0.868 8.516 5.01 1.546 2.535 7.367 0.867634 NA 0.55 0.349867 0.661734 NA 0.435 NA 10.2614664 634 6 29323838 29323838 A C exonic OR5V1 NA nonsynonymous SNV OR5V1:NM_030876:exon1:c.T135G:p.I45M exonic ENSG00000243729 NA nonsynonymous SNV ENSG00000243729:ENST00000543825:exon1:c.T135G:p.I45M,ENSG00000243729:ENST00000377154:exon4:c.T135G:p.I45M NA NA 6p22.1 NA NA NA NA rs9257770 0.02 0.02 0.027 0.0219649 0.0298 0.0417 0.0202 0.0076 0.0143 0.03 0.03 0.01 0.01 0.0208 0.043 1 T 0.931 P 0.459 P 0.084 N 1.000 N 1.845 L 6.79 T -0.925 T 0.000 T 0.115 1.697 11.63 -3.19 -0.345 -2.802 6.774 1.696989 1.696989 0.07 0.024535 0.006809 NA 0.029 NA 10.2581984 634 19 38993556 38993556 C T exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon49:c.C7872T:p.R2624R,RYR1:NM_001042723:exon49:c.C7872T:p.R2624R exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon49:c.C7872T:p.R2624R,ENSG00000196218:ENST00000359596:exon49:c.C7872T:p.R2624R,ENSG00000196218:ENST00000360985:exon49:c.C7872T:p.R2624R Score=596;Name=lod=353 NA 19q13.2 Score=774;Name=V$HEN1_02 Name=CTCF Name=10 NA rs1469698 0.16 0.16 0.15 0.179912 0.1481 0.0437 0.1816 0.3132 0.1718 0.16 0.04 0.17 0.3 0.1478 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.642976 NA NA 0.11314 0.276668 ID=COSM1393408;OCCURENCE=1(large_intestine) 0.152 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079173.1|RCV000119733.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.2576266 634 6 32975869 32975869 G A exonic HLA-DOA NA synonymous SNV HLA-DOA:NM_002119:exon2:c.C252T:p.G84G exonic ENSG00000204252 NA nonsynonymous SNV ENSG00000204252:ENST00000374813:exon2:c.C85T:p.R29W NA NA 6p21.32 NA NA NA NA rs375256 0.22 0.22 0.204 0.188299 0.2515 0.3542 0.1239 0.0635 0.1667 0.25 0.32 0.14 0.1 0.2357 0.32 0.05 D . . . . . . 0.827 P . . . . -1.018 T 0.029 T . -0.427 2.011 -9.0 -2.715 -3.733 3.828 -0.427116 NA 0.06 0.255445 0.101257 NA 0.188 NA 10.257355 634 1 109268573 109268573 T C exonic FNDC7 NA nonsynonymous SNV FNDC7:NM_001144937:exon6:c.T1058C:p.V353A exonic ENSG00000143107 NA nonsynonymous SNV ENSG00000143107:ENST00000271311:exon5:c.T1061C:p.V354A,ENSG00000143107:ENST00000370017:exon6:c.T1058C:p.V353A Score=516;Name=lod=166 NA 1p13.3 Score=889;Name=V$FOXJ2_01 NA NA NA rs4494160 0.58 0.58 0.595 0.592851 0.7127 0.2341 0.5346 0.7958 0.6063 0.71 0.23 0.59 0.78 0.6521 0.79 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.995 N 2.24 T -0.956 T 0.004 T 0.56 1.198 9.867 6.05 1.592 5.626 15.621 1.197876 NA 1 0.713023 0.790059 NA 0.696 NA 10.2555104 634 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 635 10 16948390 16948390 G C exonic CUBN NA nonsynonymous SNV CUBN:NM_001081:exon50:c.C7724G:p.P2575R exonic ENSG00000107611 NA nonsynonymous SNV ENSG00000107611:ENST00000377833:exon50:c.C7724G:p.P2575R NA NA 10p13 NA NA NA NA rs1801236 0.06 0.06 0.035 0.067492 0.0219 0.1369 0.0634 0.0045 0.1309 0.02 0.15 0.06 0.01 0.0421 0.15 0.57 T 0.137 B 0.097 B 0.591 N 0.998 P -0.535 N 2.28 T -0.962 T 0.000 T 0.054 0.638 7.428 4.64 1.474 1.784 8.219 0.63818 NA 0.05 0.014774 0.007036 NA 0.072 NA 10.2545594 635 6 32190390 32190390 T G exonic NOTCH4 NA nonsynonymous SNV NOTCH4:NM_004557:exon3:c.A349C:p.K117Q exonic ENSG00000204301 NA nonsynonymous SNV ENSG00000204301:ENST00000375023:exon3:c.A349C:p.K117Q Score=317;Name=lod=26 NA 6p21.32 NA NA NA NA rs915894 0.38 0.38 0.376 0.398762 0.3519 0.5109 0.3285 0.3714 0.4182 0.36 0.5 0.33 0.32 0.3584 0.5 0.18 T 0.0 B 0.001 B 0.038 N 0.000 P 0.265 N -2.92 D -0.758 T 0.370 T 0.008 -0.141 3.312 2.36 0.361 1.331 9.661 -0.140568 NA 0.48 0.369419 0.377667 NA 0.558 NA 10.2536144 635 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 636 1 57340727 57340727 C A exonic C8A NA nonsynonymous SNV C8A:NM_000562:exon3:c.C277A:p.Q93K exonic ENSG00000157131 NA nonsynonymous SNV ENSG00000157131:ENST00000361249:exon3:c.C277A:p.Q93K NA NA 1p32.2 Score=871;Name=V$GR_Q6 NA NA NA rs652785 0.33 0.33 0.306 0.34365 0.3439 0.496 0.2507 0.1755 0.4796 0.35 0.44 0.28 0.19 0.3684 0.44 0.35 T 0.048 B 0.012 B 0.481 N 1.000 P 1.7 L -0.91 T -0.991 T 0.000 T 0.065 -0.688 1.011 3.42 1.478 0.109 10.121 -0.687821 NA 0.74 0.376628 0.212211 NA 0.391 CLINSIG=non-pathogenic;CLNDBN=COMPLEMENT_COMPONENT_8\x2c_ALPHA_SUBUNIT\x2c_A/B_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000018567.1;CLNDSDB=.;CLNDSDBID=. 10.2444054 636 12 48358203 48358203 A G exonic TMEM106C NA nonsynonymous SNV TMEM106C:NM_001143841:exon2:c.A184G:p.T62A,TMEM106C:NM_001143842:exon2:c.A184G:p.T62A,TMEM106C:NM_001143843:exon2:c.A184G:p.T62A,TMEM106C:NM_024056:exon2:c.A184G:p.T62A exonic ENSG00000134291 NA nonsynonymous SNV ENSG00000134291:ENST00000548355:exon1:c.A184G:p.T62A,ENSG00000134291:ENST00000553217:exon1:c.A184G:p.T62A,ENSG00000134291:ENST00000256686:exon2:c.A184G:p.T62A,ENSG00000134291:ENST00000429772:exon2:c.A184G:p.T62A,ENSG00000134291:ENST00000449758:exon2:c.A184G:p.T62A,ENSG00000134291:ENST00000549288:exon2:c.A184G:p.T62A,ENSG00000134291:ENST00000550146:exon2:c.A184G:p.T62A,ENSG00000134291:ENST00000550552:exon2:c.A184G:p.T62A,ENSG00000134291:ENST00000552561:exon2:c.A184G:p.T62A NA NA 12q13.11 NA Name=USF-1,USF2,GATA3_(SC-268),c-Myc Name=36 NA rs35299693 0.02 0.02 0.015 0.0145767 0.0437 NA 0.0216 0.0015 0.0123 0.04 NA 0.02 0.002 0.0224 0.04 0.18 T 0.001 B 0.002 B 0.001 N 0.884 N 0.205 N 2.03 T -1.037 T 0.006 T 0.133 1.666 11.53 1.93 0.437 1.845 7.662 1.665883 1.665883 0.28 0.026047 0.003404 NA NA NA 10.2411864 636 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 636 11 6816792 6816792 T C exonic OR6A2 NA nonsynonymous SNV OR6A2:NM_003696:exon1:c.A148G:p.I50V exonic ENSG00000184933 NA nonsynonymous SNV ENSG00000184933:ENST00000332601:exon1:c.A148G:p.I50V NA NA 11p15.4 Score=955;Name=V$HOXA3_01 NA NA NA rs61741824 0.01 0.01 0.013 0.0165735 0.0288 NA 0.0101 0.0008 0.047 0.02 NA 0.01 0.002 0.0302 0.034 1 T 0.001 B 0.002 B 0.092 N 1.000 N 0.25 N 3.27 T -0.961 T 0.003 T 0.075 -1.337 0.031 -6.02 -0.806 -1.270 12.870 -1.337374 NA 0.94 0.033869 0.007951 NA 0.058 NA 10.2404644 636 X 44938563 44938563 G A exonic KDM6A NA synonymous SNV KDM6A:NM_021140:exon20:c.G3111A:p.Q1037Q exonic ENSG00000147050 NA synonymous SNV ENSG00000147050:ENST00000543216:exon18:c.G2874A:p.Q958Q,ENSG00000147050:ENST00000536777:exon19:c.G2976A:p.Q992Q,ENSG00000147050:ENST00000377967:exon20:c.G3111A:p.Q1037Q,ENSG00000147050:ENST00000382899:exon20:c.G3132A:p.Q1044Q Score=661;Name=lod=650 NA Xp11.3 Score=844;Name=V$OCT1_05 NA Name=2 NA rs20539 0.23 0.23 0.1876 NA NA NA NA NA NA 0.21 0.31 0.41 0.02 0.2384 0.41 . . . . . . . . 0.000 P . . . . -1.040 T 0.000 T . 0.687 7.673 0.226 -0.032 1.819 11.200 0.687468 NA NA 0.188466 0.032855 ID=COSM1179848;OCCURENCE=1(prostate) 0.188 NA 10.2398006 636 12 109017264 109017264 T C exonic SELPLG NA nonsynonymous SNV SELPLG:NM_001206609:exon2:c.A868G:p.M290V,SELPLG:NM_003006:exon2:c.A820G:p.M274V exonic ENSG00000110876 NA nonsynonymous SNV ENSG00000110876:ENST00000228463:exon2:c.A868G:p.M290V,ENSG00000110876:ENST00000550948:exon2:c.A820G:p.M274V,ENSG00000110876:ENST00000388962:exon3:c.A790G:p.M264V NA NA 12q24.11 NA Name=FOSL1_(SC-183),BAF155,Egr-1 NA NA rs7300972 0.08 0.08 0.074 0.110623 0.0278 0.002 0.0375 0.3162 0.0818 0.02 0.0017 0.04 0.3 0.0497 0.3 0.1 T 0.243 B 0.151 B 0.040 N 1.000 P 0.69 N 2.64 T -0.930 T 0.000 T 0.056 1.136 9.631 3.49 1.836 0.240 5.521 1.136351 NA 0.07 0.018488 0.283931 NA 0.022 NA 10.2373454 636 11 6648424 6648424 G A exonic DCHS1 NA nonsynonymous SNV DCHS1:NM_003737:exon14:c.C5846T:p.T1949M exonic ENSG00000166341 NA nonsynonymous SNV ENSG00000166341:ENST00000299441:exon14:c.C5846T:p.T1949M NA NA 11p15.4 Score=848;Name=V$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 636 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 636 3 150280445 150280445 C G exonic EIF2A NA nonsynonymous SNV EIF2A:NM_032025:exon4:c.C290G:p.T97S exonic ENSG00000144895 NA nonsynonymous SNV ENSG00000144895:ENST00000487799:exon3:c.C215G:p.T72S,ENSG00000144895:ENST00000273435:exon4:c.C275G:p.T92S,ENSG00000144895:ENST00000406576:exon4:c.C290G:p.T97S,ENSG00000144895:ENST00000460851:exon4:c.C290G:p.T97S,ENSG00000144895:ENST00000482093:exon4:c.C290G:p.T97S Score=528;Name=lod=186 NA 3q25.1 NA NA NA NA rs1132979 0.36 0.36 0.348 0.354233 0.3588 0.4861 0.3631 0.1611 0.4683 0.37 0.5 0.39 0.18 0.3893 0.5 0.67 T 0.007 B 0.007 B 0.001 N 0.000 P -0.13 N 0.9 T -0.940 T 0.000 T 0.115 2.227 13.4 5.86 2.781 2.755 20.189 2.226881 2.226881 0.84 0.34939 0.168988 ID=COSM149497;OCCURENCE=1(stomach) 0.399 NA 10.2358434 637 7 6731672 6731672 G C exonic ZNF12 NA nonsynonymous SNV ZNF12:NM_016265:exon5:c.C901G:p.Q301E,ZNF12:NM_006956:exon6:c.C787G:p.Q263E exonic ENSG00000164631 NA nonsynonymous SNV ENSG00000164631:ENST00000404360:exon5:c.C679G:p.Q227E,ENSG00000164631:ENST00000405858:exon5:c.C901G:p.Q301E,ENSG00000164631:ENST00000342651:exon6:c.C787G:p.Q263E NA NA 7p22.1 NA Name=SETDB1,ZNF274,KAP1 Name=83 NA rs61731528 0.02 0.02 0.023 0.0185703 0.0427 NA 0.036 0.003 0.0215 0.04 NA 0.05 0.002 0.0251 0.05 1 T 0.807 P 0.475 P 0.114 N 1.000 N -0.33 N 5.69 T -0.945 T 0.000 T 0.105 0.963 8.928 -0.047 -0.016 -0.485 10.755 0.962772 NA 1 0.034551 0.010232 NA 0.065 NA 10.2309824 637 11 76507403 76507403 G A exonic TSKU NA nonsynonymous SNV TSKU:NM_001258210:exon2:c.G743A:p.S248N,TSKU:NM_015516:exon2:c.G743A:p.S248N exonic ENSG00000182704 NA nonsynonymous SNV ENSG00000182704:ENST00000333090:exon2:c.G743A:p.S248N,ENSG00000182704:ENST00000527881:exon2:c.G743A:p.S248N NA NA 11q13.5 Score=774;Name=V$STAT3_01 NA NA NA rs11236938 0.09 0.09 0.084 0.0844649 0.0278 0.0556 0.0605 0.2201 0.0061 0.03 0.07 0.06 0.22 0.0476 0.22 0.38 T 0.002 B 0.02 B 0.916 N 1.000 P 0.655 N 0.46 T -1.032 T 0.000 T 0.008 -0.303 2.555 2.14 0.263 1.788 4.885 -0.303289 NA 0.28 0.027298 0.18861 NA 0.101 NA 10.2306354 637 19 12921186 12921186 T C exonic RNASEH2A NA nonsynonymous SNV RNASEH2A:NM_006397:exon6:c.T605C:p.L202S exonic ENSG00000104889 NA nonsynonymous SNV ENSG00000104889:ENST00000221486:exon6:c.T605C:p.L202S NA NA 19p13.2 NA NA NA NA rs7247284 0.06 0.06 0.05 0.0626997 0.0249 0.0119 0.0778 0.1573 0.0153 0.03 0.02 0.06 0.16 0.0466 0.16 0.48 T 0.006 B 0.005 B 0.657 N 1.000 P 0.48 N -2.06 D -1.080 T 0.002 T 0.111 -1.557 0.015 2.0 0.081 0.961 6.414 -1.557072 NA 0.74 0.032558 0.139809 NA 0.043 NA 10.2292754 637 10 47000217 47000217 G A exonic GPRIN2 NA nonsynonymous SNV GPRIN2:NM_014696:exon3:c.G1337A:p.R446H exonic ENSG00000204175 NA nonsynonymous SNV ENSG00000204175:ENST00000374314:exon1:c.G1337A:p.R446H,ENSG00000204175:ENST00000374317:exon3:c.G1337A:p.R446H NA NA 10q11.22 Score=869;Name=V$E47_01 NA Name=2 NA rs72780221 0.1 0.1 0.067 NA NA NA NA NA NA 0.1 0.04 0.08 0.17 0.105 0.17 0.22 T 0.105 B 0.018 B 0.637 N 1.000 N 1.555 L 1.75 T -1.022 T 0.000 T 0.189 2.261 13.52 3.2 0.639 0.143 5.523 2.261176 2.261176 0.15 NA NA ID=COSM1128052;OCCURENCE=1(prostate) 0.072 NA 10.2283334 637 20 62328375 62328375 A G exonic TNFRSF6B NA synonymous SNV TNFRSF6B:NM_003823:exon1:c.A255G:p.L85L exonic ENSG00000026036,ENSG00000243509,ENSG00000258366 NA nonsynonymous SNV ENSG00000026036:ENST00000482936:exon35:c.A4162G:p.R1388G,ENSG00000258366:ENST00000318100:exon36:c.A4162G:p.R1388G Score=525;Name=lod=182 NA 20q13.33 NA Name=Pol2-4H8,Pol2 Name=13 NA rs2738787 0.96 0.96 0.957 0.965455 0.9145 0.995 0.9582 0.9962 0.9509 0.92 0.99 0.94 0.99 0.9384 0.99 0.68 T . . . . 0.391 N 0.000 P . . -1.66 D -0.958 T 0.000 T . 2.349 13.81 2.91 0.071 1.455 5.140 2.349427 2.349427 1 0.92144 0.982853 NA 0.957 NA 10.22566 638 8 10466161 10466161 C T exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.G5447A:p.G1816D exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.G5447A:p.G1816D NA NA 8p23.1 NA NA NA NA rs79019225 0.02 0.02 0.025 0.0301518 0.0348 0.002 0.0144 0.0356 0.0583 0.03 0.0035 0.01 0.03 0.0351 0.04 0.6 T 0.001 B 0.002 B 0.553 U 1.000 N 0.205 N 2.15 T -0.968 T 0.006 T 0.028 0.405 6.198 -2.56 -0.964 -1.568 6.964 0.404781 NA 0.24 0.039611 0.033191 NA 0.022 NA 10.2238224 638 20 13140720 13140720 G A exonic SPTLC3 NA nonsynonymous SNV SPTLC3:NM_018327:exon11:c.G1486A:p.A496T exonic ENSG00000172296 NA nonsynonymous SNV ENSG00000172296:ENST00000399002:exon11:c.G1486A:p.A496T Score=476;Name=lod=115 NA 20p12.1 NA NA NA NA rs61738161 0.03 0.03 0.017 0.0277556 0.0318 0.001 0.1354 0.0053 0.0051 0.04 0.0017 0.11 0.01 0.0422 0.11 0.56 T 0.017 B 0.01 B 0.000 N 0.000 P -1.01 N -3.57 D -0.823 T 0.015 T 0.27 2.42 14.05 1.46 0.783 2.405 1.353 2.420122 2.420122 0.56 0.03554 0.008488 NA 0.029 NA 10.2237934 638 19 56543982 56543982 G T exonic NLRP5 NA nonsynonymous SNV NLRP5:NM_153447:exon8:c.G2282T:p.R761L exonic ENSG00000171487 NA nonsynonymous SNV ENSG00000171487:ENST00000390649:exon8:c.G2282T:p.R761L NA NA 19q13.43 NA NA NA NA rs17713875 0.02 0.02 0.013 0.0133786 0.0477 NA 0.0202 0.0008 0.0041 0.05 NA 0.02 0.002 0.0281 0.05 0.28 T 0.029 B 0.018 B 0.385 N 1.000 N 0.995 L -2.4 D -0.769 T 0.120 T 0.048 0.348 5.886 -7.36 -2.119 -0.931 3.491 0.347609 NA 0.26 0.034442 0.007893 NA 0.014 NA 10.2230914 638 2 223917983 223917983 T G exonic KCNE4 NA nonsynonymous SNV KCNE4:NM_080671:exon2:c.T588G:p.D196E exonic ENSG00000152049 NA nonsynonymous SNV ENSG00000152049:ENST00000281830:exon2:c.T588G:p.D196E,ENSG00000152049:ENST00000604125:exon2:c.T435G:p.D145E NA Name=Acute lymphoblastic leukemia (childhood) 2q36.1 Score=795;Name=V$TAXCREB_01 Name=CTCF NA NA rs12621643 0.66 0.66 0.619 0.670927 0.7068 0.6885 0.7478 0.4841 0.8139 0.72 0.68 0.73 0.51 0.7033 0.73 0.53 T 0.0 B 0.001 B 0.000 N 1.000 P 0.55 N . . -0.965 T 0.000 T 0.054 1.579 11.24 -10.7 -2.309 -1.799 14.340 1.579245 1.579245 0.61 0.700163 0.533818 NA 0.674 NA 10.2230704 638 1 161132821 161132821 C A exonic USP21 NA nonsynonymous SNV USP21:NM_012475:exon6:c.C1006A:p.P336T,USP21:NM_001014443:exon7:c.C1006A:p.P336T exonic ENSG00000143258 NA nonsynonymous SNV ENSG00000143258:ENST00000289865:exon6:c.C1006A:p.P336T,ENSG00000143258:ENST00000368001:exon6:c.C1006A:p.P336T,ENSG00000143258:ENST00000368002:exon7:c.C1006A:p.P336T Score=405;Name=lod=59 NA 1q23.3 NA NA NA NA rs1127525 0.02 0.02 0.015 0.0163738 0.0427 NA 0.0447 0.0008 0.0072 0.03 NA 0.04 0.0041 0.0262 0.044 0.35 T 0.059 B 0.114 B 0.001 N 0.976 N 0.19 N 2.59 T -0.969 T 0.012 T 0.067 -0.107 3.473 3.77 1.146 0.929 10.456 -0.107462 NA 0.17 0.043605 0.007036 NA 0.007 NA 10.2208284 638 4 56820412 56820412 G A exonic CEP135 NA nonsynonymous SNV CEP135:NM_025009:exon4:c.G335A:p.R112H exonic ENSG00000174799 NA nonsynonymous SNV ENSG00000174799:ENST00000257287:exon4:c.G335A:p.R112H,ENSG00000174799:ENST00000422247:exon4:c.G335A:p.R112H NA NA 4q12 Score=770;Name=V$ARNT_02 NA NA NA rs77591659 0.02 0.02 0.014 0.0123802 0.0437 NA 0.0115 0.0015 0.0082 0.04 NA 0.02 0.0041 0.0286 0.042 0.2 T 0.002 B 0.001 B 0.004 N 1.000 N -0.6 N 1.01 T -1.052 T 0.009 T 0.013 -0.23 2.889 -0.452 0.061 2.063 5.334 -0.230142 NA 0.45 0.042326 0.008625 NA 0.029 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116675.1;CLNDSDB=.;CLNDSDBID=. 10.2187074 638 19 40901496 40901496 T C exonic PRX NA nonsynonymous SNV PRX:NM_181882:exon7:c.A2763G:p.I921M exonic ENSG00000105227 NA nonsynonymous SNV ENSG00000105227:ENST00000324001:exon7:c.A2763G:p.I921M NA NA 19q13.2 Score=858;Name=V$ZID_01 NA NA NA rs268673 0.31 0.31 0.266 0.296725 0.3767 0.1885 0.3833 0.3071 0.2505 0.37 0.16 0.44 0.31 0.3504 0.44 0.29 T 0.0 B 0.0 B 0.039 N 0.000 P -0.345 N 4.05 T -0.919 T 0.000 T 0.015 -0.56 1.471 -5.36 -0.939 -2.763 8.891 -0.559849 NA 0.11 0.387907 0.324103 NA 0.21 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118077.2;CLNDSDB=.;CLNDSDBID=. 10.2183264 638 1 158735691 158735691 T C exonic OR6N1 NA nonsynonymous SNV OR6N1:NM_001005185:exon1:c.A782G:p.Q261R exonic ENSG00000197403 NA nonsynonymous SNV ENSG00000197403:ENST00000335094:exon1:c.A782G:p.Q261R Score=369;Name=lod=42 NA 1q23.1 NA Name=CEBPB NA NA rs857825 0.71 0.71 0.692 0.667931 0.7217 0.6171 0.7839 0.7784 0.4335 0.73 0.6 0.79 0.76 0.6795 0.79 1 T 0.0 B 0.0 B 0.001 N 1.000 P -1.165 N 1.25 T -0.987 T 0.009 T 0.074 -2.03 0.006 4.74 1.211 1.410 12.189 -2.029825 NA 1 0.716512 0.779846 ID=COSM1179738;OCCURENCE=1(prostate) 0.587 NA 10.2156214 638 1 158735740 158735740 A G exonic OR6N1 NA nonsynonymous SNV OR6N1:NM_001005185:exon1:c.T733C:p.F245L exonic ENSG00000197403 NA nonsynonymous SNV ENSG00000197403:ENST00000335094:exon1:c.T733C:p.F245L Score=419;Name=lod=67 NA 1q23.1 NA Name=CEBPB NA NA rs857826 0.71 0.71 0.703 0.667931 0.7217 0.6171 0.7839 0.7784 0.4335 0.73 0.6 0.79 0.76 0.6796 0.79 1 T 0.0 B 0.0 B 0.001 N 0.999 P -2.055 N 1.71 T -0.948 T 0.004 T 0.053 -0.267 2.721 4.74 1.211 3.015 12.189 -0.266661 NA 1 0.716512 0.779846 ID=COSM1127314;OCCURENCE=3(prostate) 0.587 NA 10.2155214 639 1 86557967 86557967 G A exonic COL24A1 NA nonsynonymous SNV COL24A1:NM_152890:exon6:c.C1636T:p.P546S exonic ENSG00000171502 NA nonsynonymous SNV ENSG00000171502:ENST00000370571:exon6:c.C1636T:p.P546S,ENSG00000171502:ENST00000426639:exon6:c.C1636T:p.P546S,ENSG00000171502:ENST00000436319:exon6:c.C1636T:p.P546S Score=473;Name=lod=112 NA 1p22.3 NA NA NA NA rs11161732 0.38 0.38 0.372 0.370208 0.3767 0.3849 0.4467 0.3563 0.3129 0.36 0.38 0.43 0.38 0.3614 0.43 0.11 T 0.005 B 0.01 B 0.045 N 1.000 P -0.345 N 2.35 T -0.568 T 0.363 T 0.088 0.693 7.702 3.91 1.275 2.830 11.155 0.693226 NA 0.05 0.382063 0.354992 NA 0.348 NA 10.2131704 639 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=MafK_(SC-477),NF-E2,MafK_(ab50322),E2F6_(H-50) 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 639 7 102113226 102113226 C T exonic LRWD1 NA nonsynonymous SNV LRWD1:NM_152892:exon14:c.C1778T:p.P593L exonic ENSG00000161036 NA nonsynonymous SNV ENSG00000161036:ENST00000292616:exon14:c.C1778T:p.P593L NA NA 7q22.1 NA Name=Pol2 NA NA rs148981077 0.02 0.02 0.02 0.0181709 0.0417 NA 0.0202 0.0008 0.0348 0.04 NA 0.02 NA 0.0385 0.046 0.33 T 0.0 B 0.0 B 0.482 N 1.000 N 0 N 0.13 T -1.019 T 0.005 T 0.347 1.343 10.41 -3.22 -0.794 -2.426 1.211 1.343116 1.343116 0.32 0.046163 0.011126 NA 0.014 NA 10.2069704 640 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=MafK_(SC-477),MafF_(M8194) 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 640 5 90024735 90024735 G A exonic GPR98 NA nonsynonymous SNV GPR98:NM_032119:exon49:c.G10411A:p.E3471K exonic ENSG00000164199 NA nonsynonymous SNV ENSG00000164199:ENST00000405460:exon49:c.G10411A:p.E3471K Score=479;Name=lod=118 NA 5q14.3 NA NA NA NA rs2366928 0.8 0.8 0.8 0.829073 0.6978 0.8155 0.8285 0.941 0.8272 0.71 0.78 0.8 0.95 0.7484 0.95 1 T 0.0 B 0.0 B 0.005 N 0.000 P -1.87 N 1.81 T -0.960 T 0.000 T 0.454 -0.315 2.502 5.6 0.961 4.384 11.643 -0.315021 NA 1 0.685512 0.903552 NA 0.79 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039504.1;CLNDSDB=.;CLNDSDBID=. 10.2016214 640 9 134351770 134351770 G A exonic PRRC2B NA synonymous SNV PRRC2B:NM_013318:exon15:c.G4254A:p.K1418K exonic ENSG00000130723 NA synonymous SNV ENSG00000130723:ENST00000357304:exon15:c.G4254A:p.K1418K Score=655;Name=lod=614 NA 9q34.13 NA NA NA NA rs78591540 0.1 0.1 0.086 0.0972444 0.163 0.004 0.0735 0.1778 0.0337 0.16 0.0017 0.08 0.14 0.1698 0.16 . . . . . . . . 0.000 P . . . . -1.083 T 0.001 T . 0.605 7.262 4.94 2.814 3.787 12.448 0.605446 NA NA 0.13309 0.130638 NA 0.094 NA 10.2007766 640 18 6980523 6980523 T C exonic LAMA1 NA nonsynonymous SNV LAMA1:NM_005559:exon42:c.A6004G:p.K2002E exonic ENSG00000101680 NA nonsynonymous SNV ENSG00000101680:ENST00000389658:exon42:c.A6004G:p.K2002E Score=340;Name=lod=32 NA 18p11.31 NA Name=STAT3,CEBPB Name=12 NA rs607230 0.71 0.71 0.679 0.69369 0.6909 0.8244 0.7522 0.5234 0.7505 0.72 0.82 0.73 0.56 0.7278 0.82 1 T 0.0 B 0.0 B 0.075 N 1.000 P -1.5 N 2.23 T -0.994 T 0.000 T 0.039 0.914 8.719 3.34 0.691 1.467 5.88 0.913995 NA NA 0.714651 0.553385 NA 0.681 NA 10.1999824 640 16 14742400 14742400 T G exonic BFAR NA nonsynonymous SNV BFAR:NM_016561:exon3:c.T419G:p.M140R exonic ENSG00000103429 NA nonsynonymous SNV ENSG00000103429:ENST00000261658:exon3:c.T419G:p.M140R Score=399;Name=lod=56 NA 16p13.12 NA NA NA NA rs11546303 0.27 0.27 0.233 0.251997 0.3917 0.1558 0.4049 0.1172 0.2812 0.4 0.16 0.38 0.13 0.3544 0.4 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.04 N 3.38 T -0.923 T 0.000 T 0.093 -0.295 2.593 6.08 1.599 3.507 16.121 -0.294767 NA 1 0.38907 0.176377 ID=COSM1376003;OCCURENCE=1(large_intestine) 0.29 NA 10.1981634 640 11 118081345 118081345 A T exonic AMICA1 NA nonsynonymous SNV AMICA1:NM_153206:exon3:c.T251A:p.I84N,AMICA1:NM_001098526:exon4:c.T281A:p.I94N exonic ENSG00000160593 NA nonsynonymous SNV ENSG00000160593:ENST00000292067:exon3:c.T251A:p.I84N,ENSG00000160593:ENST00000524477:exon3:c.T164A:p.I55N,ENSG00000160593:ENST00000526595:exon3:c.T164A:p.I55N,ENSG00000160593:ENST00000526620:exon3:c.T164A:p.I55N,ENSG00000160593:ENST00000533261:exon3:c.T281A:p.I94N,ENSG00000160593:ENST00000356289:exon4:c.T281A:p.I94N,ENSG00000160593:ENST00000525565:exon4:c.T281A:p.I94N,ENSG00000160593:ENST00000527877:exon4:c.T189A:p.H63Q NA NA 11q23.3 NA NA NA NA rs17121881 0.45 0.45 0.431 0.467452 0.5298 0.5387 0.487 0.1346 0.7658 0.54 0.57 0.48 0.15 0.537 0.57 0.24 T 0.993 D 0.746 P 0.405 N 1.000 P 1.955 M -0.11 T -0.894 T 0.000 T 0.262 1.128 9.598 3.98 0.925 1.514 7.889 1.127979 NA 0.05 0.571462 0.205 ID=COSM147332;OCCURENCE=1(stomach),1(large_intestine) 0.442 NA 10.1950714 641 19 42083849 42083849 C A exonic CEACAM21 NA nonsynonymous SNV CEACAM21:NM_001098506:exon2:c.C362A:p.T121N,CEACAM21:NM_033543:exon2:c.C362A:p.T121N exonic ENSG00000007129 NA nonsynonymous SNV ENSG00000007129:ENST00000187608:exon2:c.C362A:p.T121N,ENSG00000007129:ENST00000401445:exon2:c.C362A:p.T121N,ENSG00000007129:ENST00000457737:exon2:c.C362A:p.T121N NA NA 19q13.2 NA NA NA NA rs714106 0.55 0.55 0.499 0.523562 0.7256 0.5833 0.7493 0.0976 0.6697 0.72 0.57 0.72 0.13 0.6806 0.73 0.05 D 1.0 D 0.997 D . . 0.233 P 3.865 H -0.31 T -0.922 T 0.000 T 0.178 2.379 13.91 1.84 1.363 0.697 7.316 2.379437 2.379437 0.07 0.733807 0.220669 NA 0.536 NA 10.1933264 641 1 154426970 154426970 A C exonic IL6R NA nonsynonymous SNV IL6R:NM_000565:exon9:c.A1073C:p.D358A exonic ENSG00000160712 NA nonsynonymous SNV ENSG00000160712:ENST00000368485:exon9:c.A1073C:p.D358A Score=259;Name=lod=15 NA 1q21.3 NA NA NA NA rs2228145 0.32 0.32 0.275 0.293131 0.3598 0.3234 0.536 0.087 0.2996 0.36 0.36 0.48 0.09 0.3756 0.48 0.35 T 0.123 B 0.02 B 0.000 N 0.000 P 2.14 M 2.34 T -0.977 T 0.117 T 0.356 1.5 10.96 2.85 0.662 0.915 6.5 1.499781 1.499781 0.25 0.404651 0.145483 NA 0.333 CLINSIG=other|other;CLNDBN=Serum_level_of_interleukin-6_soluble_receptor|Serum_level_of_interleukin_6;CLNREVSTAT=single|single;CLNACC=RCV000015767.1|RCV000029243.1;CLNDSDB=MedGen:OMIM|MedGen:OMIM;CLNDSDBID=CN070041:614689|CN130638:614752 10.1932824 641 9 33941759 33941759 T C exonic UBAP2 NA nonsynonymous SNV UBAP2:NM_018449:exon16:c.A1817G:p.N606S exonic ENSG00000137073 NA nonsynonymous SNV ENSG00000137073:ENST00000379225:exon4:c.A716G:p.N239S,ENSG00000137073:ENST00000539807:exon10:c.A1082G:p.N361S,ENSG00000137073:ENST00000379239:exon12:c.A1016G:p.N339S,ENSG00000137073:ENST00000418786:exon14:c.A1658G:p.N553S,ENSG00000137073:ENST00000360802:exon16:c.A1817G:p.N606S,ENSG00000137073:ENST00000379238:exon16:c.A1817G:p.N606S,ENSG00000137073:ENST00000449054:exon16:c.A1817G:p.N606S Score=439;Name=lod=81 NA 9p13.3 NA NA NA NA rs307658 0.36 0.36 0.342 0.370807 0.3837 0.1726 0.268 0.5083 0.4489 0.41 0.2 0.29 0.5 0.3741 0.5 1 T 0.02 B 0.002 B 0.047 N 0.000 P -1.05 N 2.79 T -0.953 T 0.000 T 0.05 -0.663 1.094 5.76 1.449 2.117 12.929 -0.663234 NA 0.46 0.382674 0.467544 ID=COSM150593;OCCURENCE=1(stomach) 0.536 NA 10.1928594 641 17 3446885 3446885 T C exonic TRPV3 NA nonsynonymous SNV TRPV3:NM_001258205:exon5:c.A349G:p.R117G,TRPV3:NM_145068:exon5:c.A349G:p.R117G exonic ENSG00000167723 NA nonsynonymous SNV ENSG00000167723:ENST00000301365:exon5:c.A349G:p.R117G,ENSG00000167723:ENST00000572519:exon5:c.A349G:p.R117G,ENSG00000167723:ENST00000576742:exon5:c.A349G:p.R117G Score=393;Name=lod=53 NA 17p13.2 NA NA NA NA rs322937 0.26 0.26 0.264 0.250799 0.3996 0.247 0.2147 0.115 0.3108 0.4 0.24 0.25 0.09 0.3425 0.4 0.17 T 0.009 B 0.025 B 0.025 N 1.000 P 1.415 L -2.26 D -1.061 T 0.000 T 0.178 0.759 8.019 2.83 0.326 2.032 10.660 0.759106 NA 0.16 0.398953 0.16591 NA 0.261 NA 10.1922804 641 6 34826921 34826921 G C exonic UHRF1BP1 NA nonsynonymous SNV UHRF1BP1:NM_017754:exon14:c.G2788C:p.E930Q exonic ENSG00000065060 NA nonsynonymous SNV ENSG00000065060:ENST00000192788:exon14:c.G2788C:p.E930Q,ENSG00000065060:ENST00000452449:exon14:c.G2788C:p.E930Q NA NA 6p21.31 Score=762;Name=V$SRF_01 NA NA NA rs61732793 0.03 0.03 0.024 0.0253594 0.0557 0.005 0.0346 0.0015 0.0409 0.05 0.01 0.04 0.01 0.041 0.05 0.34 T 0.047 B 0.024 B 0.680 N 1.000 N 0 N 3.06 T -0.916 T 0.004 T 0.071 -0.389 2.174 2.5 0.758 1.242 4.63 -0.389201 NA 0.31 0.045356 0.008376 NA 0.036 NA 10.1912774 641 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 641 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 641 19 35449486 35449486 T C exonic ZNF792 NA nonsynonymous SNV ZNF792:NM_175872:exon4:c.A1273G:p.N425D exonic ENSG00000180884 NA nonsynonymous SNV ENSG00000180884:ENST00000605484:exon2:c.A1072G:p.N358D,ENSG00000180884:ENST00000404801:exon4:c.A1273G:p.N425D Score=278;Name=lod=18 NA 19q13.11 NA Name=KAP1,SETDB1 Name=12 NA rs34687332 0.03 0.03 0.023 0.0383387 0.0457 0.004 0.0403 0.0038 0.1115 0.05 NA 0.04 0.01 0.0487 0.052 0.16 T 0.273 B 0.067 B . . 0.987 N 0.26 N 2.38 T -0.991 T 0.004 T 0.082 2.329 13.75 1.74 0.479 -0.270 6.090 2.329287 2.329287 0.1 0.052209 0.008852 NA 0.007 NA 10.1867244 641 X 106396455 106396455 A G exonic NUP62CL NA synonymous SNV NUP62CL:NM_017681:exon7:c.T477C:p.R159R exonic ENSG00000198088 NA synonymous SNV ENSG00000198088:ENST00000372466:exon7:c.T477C:p.R159R Score=376;Name=lod=45 NA Xq22.3 NA Name=TAL1_(SC-12984),USF-1,p300_(F-4) Name=2 NA rs1285590 0.44 0.44 0.46184 NA NA NA NA NA NA 0.2 0.48 0.39 0.82 0.2986 0.82 . . . . . . . . 0.455 P . . . . . . . . . 0.19 5.024 -1.77 -1.064 -0.019 1.108 0.190194 NA NA 0.182224 0.752542 NA 0.355 NA 10.1858426 641 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 642 2 44004010 44004010 T C exonic DYNC2LI1 NA nonsynonymous SNV DYNC2LI1:NM_001193464:exon2:c.T98C:p.F33S,DYNC2LI1:NM_015522:exon2:c.T98C:p.F33S,DYNC2LI1:NM_016008:exon2:c.T98C:p.F33S exonic ENSG00000138036 NA nonsynonymous SNV ENSG00000138036:ENST00000260605:exon2:c.T98C:p.F33S,ENSG00000138036:ENST00000398823:exon2:c.T98C:p.F33S,ENSG00000138036:ENST00000406852:exon2:c.T98C:p.F33S,ENSG00000138036:ENST00000479242:exon2:c.T98C:p.F33S,ENSG00000138036:ENST00000496980:exon2:c.T98C:p.F33S,ENSG00000138036:ENST00000605786:exon2:c.T98C:p.F33S Score=524;Name=lod=179 NA 2p21 NA NA NA NA rs2288709 0.45 0.45 0.463 0.513179 0.3479 0.1696 0.4942 0.8933 0.5368 0.34 0.17 0.51 0.89 0.4359 0.89 0.85 T 0.002 B 0.002 B 0.000 N 0.000 P -1.555 N 1.6 T -0.989 T 0.000 T 0.563 1.228 9.98 5.41 1.306 3.034 12.371 1.227764 NA 0.78 0.364884 0.817522 NA 0.601 NA 10.1846494 642 17 19861458 19861458 C T exonic AKAP10 NA nonsynonymous SNV AKAP10:NM_007202:exon4:c.G746A:p.R249H exonic ENSG00000108599 NA nonsynonymous SNV ENSG00000108599:ENST00000225737:exon4:c.G746A:p.R249H,ENSG00000108599:ENST00000395536:exon4:c.G746A:p.R249H NA NA 17p11.2 Score=852;Name=V$GATA1_03 Name=p300,FOSL2,GATA-2,KAP1,RFX5_(N-494),eGFP-JunB,eGFP-JunD,Mxi1_(bHLH),GR,JunD,c-Fos,eGFP-FOS Name=122 NA rs2108978 0.39 0.39 0.4 0.389577 0.3946 0.1895 0.4135 0.6104 0.2751 0.39 0.18 0.41 0.62 0.3717 0.62 0.78 T 0.0 B 0.0 B 0.004 N 1.000 P -1.61 N 2.17 T -0.973 T 0.000 T 0.073 -1.726 0.011 2.36 0.128 0.073 6.062 -1.725654 NA 0.96 0.383256 0.565365 NA 0.428 NA 10.1837774 642 8 144997783 144997783 G A exonic PLEC NA nonsynonymous SNV PLEC:NM_201378:exon31:c.C6272T:p.A2091V,PLEC:NM_201379:exon31:c.C6248T:p.A2083V,PLEC:NM_201380:exon31:c.C6725T:p.A2242V,PLEC:NM_201381:exon31:c.C6218T:p.A2073V,PLEC:NM_201382:exon31:c.C6314T:p.A2105V,PLEC:NM_201383:exon31:c.C6326T:p.A2109V,PLEC:NM_201384:exon31:c.C6314T:p.A2105V,PLEC:NM_000445:exon32:c.C6395T:p.A2132V exonic ENSG00000178209 NA nonsynonymous SNV ENSG00000178209:ENST00000322810:exon31:c.C6725T:p.A2242V,ENSG00000178209:ENST00000345136:exon31:c.C6314T:p.A2105V,ENSG00000178209:ENST00000354589:exon31:c.C6314T:p.A2105V,ENSG00000178209:ENST00000354958:exon31:c.C6248T:p.A2083V,ENSG00000178209:ENST00000356346:exon31:c.C6272T:p.A2091V,ENSG00000178209:ENST00000357649:exon31:c.C6326T:p.A2109V,ENSG00000178209:ENST00000398774:exon31:c.C6218T:p.A2073V,ENSG00000178209:ENST00000527096:exon31:c.C6383T:p.A2128V,ENSG00000178209:ENST00000436759:exon32:c.C6395T:p.A2132V NA NA 8q24.3 NA NA NA NA rs74772299 0.04 0.04 0.047 0.0652955 0.0368 0.0437 0.1354 0.0015 0.1534 0.03 0.03 0.12 0.002 0.0761 0.12 0.13 T 0.229 B 0.052 B 0.005 U 1.000 N 1.79 L -1.08 T -1.080 T 0.007 T 0.106 0.59 7.181 2.93 0.419 2.548 5.834 0.589567 NA 0.01 0.037235 0.008757 ID=COSM1330239,COSM1330240,COSM1330238;OCCURENCE=1(ovary) 0.007 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078887.3;CLNDSDB=.;CLNDSDBID=. 10.1831984 642 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 642 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 642 8 124665124 124665124 C T exonic KLHL38 NA nonsynonymous SNV KLHL38:NM_001081675:exon1:c.G43A:p.D15N exonic ENSG00000175946 NA nonsynonymous SNV ENSG00000175946:ENST00000325995:exon1:c.G43A:p.D15N Score=474;Name=lod=113 NA 8q24.13 NA NA NA NA rs61910739 0.03 0.03 0.02 0.0191693 0.0557 NA 0.0216 0.0038 0.0204 0.05 NA 0.04 0.01 0.0425 0.058 0.73 T 0.021 B 0.004 B 0.000 N 0.903 N 1.28 L -0.46 T -1.069 T 0.022 T 0.003 0.662 7.548 2.68 0.211 3.778 6.780 0.662096 NA 0.25 0.058184 0.010431 NA 0.014 NA 10.1769494 643 1 53792651 53792651 A C exonic LRP8 NA nonsynonymous SNV LRP8:NM_001018054:exon2:c.T138G:p.D46E,LRP8:NM_004631:exon2:c.T138G:p.D46E,LRP8:NM_017522:exon2:c.T138G:p.D46E,LRP8:NM_033300:exon2:c.T138G:p.D46E exonic ENSG00000157193 NA nonsynonymous SNV ENSG00000157193:ENST00000306052:exon2:c.T138G:p.D46E,ENSG00000157193:ENST00000347547:exon2:c.T138G:p.D46E,ENSG00000157193:ENST00000354412:exon2:c.T138G:p.D46E,ENSG00000157193:ENST00000371454:exon2:c.T138G:p.D46E,ENSG00000157193:ENST00000480045:exon2:c.T138G:p.D46E Score=541;Name=lod=210 NA 1p32.3 NA Name=ELF1_(SC-631),TAF1,CEBPB,Pol2-4H8,ZBTB7A_(SC-34508),E2F6,Pol2 Name=59 NA rs3820198 0.52 0.52 0.569 0.550319 0.3867 0.4841 0.2997 0.9327 0.4479 0.39 0.48 0.32 0.92 0.4121 0.92 1 T 0.001 B 0.001 B . . 0.000 P -0.15 N -3.61 D -0.940 T 0.000 T 0.048 -1.207 0.069 0.782 -0.278 -0.884 1.535 -1.207045 NA 0.72 0.359651 0.825011 NA 0.638 NA 10.1748824 643 1 22168845 22168845 A T exonic HSPG2 NA nonsynonymous SNV HSPG2:NM_005529:exon68:c.T8939A:p.L2980H exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000374695:exon68:c.T8939A:p.L2980H NA NA 1p36.12 Score=858;Name=V$ZID_01 NA NA NA rs2229489 0.02 0.02 0.014 0.034345 0.0487 NA 0.0245 0.0015 0.1063 0.05 NA 0.03 0.0041 0.056 0.056 0.47 T 0.0 B 0.002 B 0.446 N 1.000 N -1.095 N 1.03 T -1.036 T 0.005 T 0.052 -1.078 0.164 4.95 0.730 1.886 10.134 -1.078225 NA 0.41 0.055698 0.009079 ID=COSM425370;OCCURENCE=1(breast) 0.022 NA 10.1729354 643 2 10262920 10262920 T G exonic RRM2 NA nonsynonymous SNV RRM2:NM_001165931:exon1:c.T175G:p.S59A exonic ENSG00000171848 NA nonsynonymous SNV ENSG00000171848:ENST00000360566:exon1:c.T175G:p.S59A NA NA 2p25.1 NA Name=E2F4,Sin3Ak-20,Mxi1_(bHLH),NRSF,PAX5-C20,Max,IRF1,Oct-2,c-Myc,GTF2F1_(RAP-74),ZNF263,TBP,CCNT2,Pol2(b),ZBTB7A_(SC-34508),NF-YB,TAF7_(SQ-8),HDAC2_(SC-6296),TCF12,GTF2B,E2F6_(H-50),E2F6,POU2F2,Pol2(phosphoS2),Pol2,CHD2_(N-1250),HA-E2F1,ETS1,NELFe,NF-YA,HEY1,BCLAF1_(M33-P5B11),NFKB,TAF1,HMGN3,ZEB1_(SC-25388),RFX5_(N-494),Pol2-4H8 NA NA rs1130609 0.65 0.65 0.689 0.651757 0.7326 0.3393 0.5476 0.9516 0.5593 0.73 0.35 0.59 0.93 0.716 0.93 0.98 T . . . . 0.299 N 1.000 P . . -4.43 D -0.902 T 0.000 T 0.026 0.03 4.171 -3.44 -0.970 -3.361 1.206 0.03031 NA 0.05 0.714118 0.891345 ID=COSM440905;OCCURENCE=1(breast) 0.478 NA 10.1706154 643 2 63660902 63660902 C T exonic WDPCP NA nonsynonymous SNV WDPCP:NM_015910:exon9:c.G802A:p.G268S exonic ENSG00000143951 NA nonsynonymous SNV ENSG00000143951:ENST00000409354:exon1:c.G163A:p.G55S,ENSG00000143951:ENST00000398544:exon3:c.G325A:p.G109S,ENSG00000143951:ENST00000409120:exon3:c.G226A:p.G76S,ENSG00000143951:ENST00000409199:exon3:c.G226A:p.G76S,ENSG00000143951:ENST00000272321:exon9:c.G802A:p.G268S,ENSG00000143951:ENST00000409562:exon9:c.G802A:p.G268S Score=560;Name=lod=251 NA 2p15 NA NA NA NA rs17617459 0.02 0.02 0.026 0.0171725 0.0557 NA 0.0231 0.0045 0.0082 0.06 NA 0.01 0.002 0.0475 0.06 0.43 T 0.022 B 0.018 B 0.000 N 0.832 N 0.345 N 1.06 T -1.087 T 0.008 T 0.085 1.011 9.131 4.56 1.297 0.541 9.621 1.011327 NA 0.37 0.059814 0.011063 NA 0.022 NA 10.1703194 643 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 643 6 31239101 31239101 G T exonic HLA-C NA nonsynonymous SNV HLA-C:NM_001243042:exon3:c.C368A:p.S123Y,HLA-C:NM_002117:exon3:c.C368A:p.S123Y exonic ENSG00000204525 NA nonsynonymous SNV ENSG00000204525:ENST00000376228:exon3:c.C368A:p.S123Y,ENSG00000204525:ENST00000383329:exon3:c.C368A:p.S123Y NA NA 6p21.33 NA Name=Pol2-4H8 Name=74 NA rs1131115 0.84 0.84 0.788 0.64377 0.6829 0.5179 0.6081 0.6952 0.6892 0.84 0.76 0.84 0.92 0.656 0.92 1 T 0.0 B 0.001 B 0.383 N 1.000 P . . 9.66 T -0.780 T 0.000 T 0.608 -0.932 0.374 -5.62 -6.089 -1.473 4.500 -0.932239 NA 1 0.825772 0.916009 NA 0.442 NA 10.1686614 643 7 48528923 48528923 G C exonic ABCA13 NA nonsynonymous SNV ABCA13:NM_152701:exon48:c.G13273C:p.V4425L exonic ENSG00000179869 NA nonsynonymous SNV ENSG00000179869:ENST00000411975:exon5:c.G592C:p.V198L,ENSG00000179869:ENST00000544596:exon5:c.G463C:p.V155L,ENSG00000179869:ENST00000435803:exon48:c.G13273C:p.V4425L NA NA 7p12.3 NA NA NA NA rs73694648 0.05 0.05 0.045 0.057508 0.0537 NA 0.0375 0.1203 0.0501 0.05 NA 0.04 0.11 0.0559 0.13 0.42 T 0.001 B 0.004 B 0.451 N 1.000 N 1.78 L -1.98 D -0.996 T 0.023 T 0.119 1.033 9.218 3.64 0.670 1.411 8.446 1.032684 NA 0.08 0.056452 0.101504 NA 0.087 NA 10.1672814 643 19 17389704 17389704 G A exonic BABAM1 NA synonymous SNV BABAM1:NM_001033549:exon9:c.G837A:p.K279K,BABAM1:NM_014173:exon9:c.G837A:p.K279K exonic ENSG00000105393 NA synonymous SNV ENSG00000105393:ENST00000595632:exon6:c.G612A:p.K204K,ENSG00000105393:ENST00000359435:exon9:c.G837A:p.K279K,ENSG00000105393:ENST00000447614:exon9:c.G837A:p.K279K,ENSG00000105393:ENST00000598188:exon9:c.G837A:p.K279K,ENSG00000105393:ENST00000601043:exon9:c.G837A:p.K279K Score=452;Name=lod=92 Name=Breast Cancer in BRCA1 mutation carriers,Breast cancer,Ovarian cancer 19p13.11 Score=871;Name=V$NKX3A_01 Name=CEBPB Name=5 NA rs8170 0.11 0.11 0.123 0.11242 0.163 0.001 0.0951 0.1861 0.0879 0.16 0.0017 0.1 0.17 0.1568 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.910139 NA 0.02 0.181084 0.179761 ID=COSM438891,COSM438892;OCCURENCE=1(breast) 0.159 NA 10.1657826 644 22 29707827 29707827 G A exonic GAS2L1 NA unknown UNKNOWN exonic ENSG00000185340 NA synonymous SNV ENSG00000185340:ENST00000471961:exon5:c.G1386A:p.G462G,ENSG00000185340:ENST00000403764:exon6:c.G1386A:p.G462G,ENSG00000185340:ENST00000407647:exon6:c.G1386A:p.G462G,ENSG00000185340:ENST00000407854:exon6:c.G1386A:p.G462G NA NA 22q12.2 Score=745;Name=V$MYOGNF1_01 NA NA NA rs112302060 0.02 0.02 0.022 0.0173722 0.0616 NA 0.0231 0.0023 0.0061 0.06 NA 0.02 0.002 0.0566 0.06 0.9 T 0.03 B 0.043 B 0.183 U 1.000 N . . . . -1.009 T 0.005 T . -1.681 0.012 2.57 1.749 1.335 5.382 -1.681309 NA 0.48 0.050406 0.009643 ID=COSM444844;OCCURENCE=1(breast) 0.007 NA 10.1647273 644 17 7484812 7484812 G A exonic CD68 NA nonsynonymous SNV CD68:NM_001040059:exon6:c.G967A:p.A323T,CD68:NM_001251:exon6:c.G1048A:p.A350T exonic ENSG00000129226 NA nonsynonymous SNV ENSG00000129226:ENST00000250092:exon6:c.G1048A:p.A350T,ENSG00000129226:ENST00000380498:exon6:c.G967A:p.A323T NA Name=Sex hormone-binding globulin levels 17p13.1 NA Name=GATA-1 NA NA rs9901675 0.06 0.06 0.047 0.0702875 0.0626 0.0407 0.0519 0.0756 0.1145 0.06 0.04 0.06 0.09 0.0578 0.09 0.46 T 0.001 B 0.004 B 0.345 N 1.000 P -1.25 N 1.39 T -0.979 T 0.001 T 0.002 -0.257 2.765 -4.98 -0.863 -0.882 8.918 -0.256905 NA 0.47 0.048256 0.067862 NA 0.043 NA 10.1646774 644 6 116446576 116446576 A G exonic COL10A1 NA nonsynonymous SNV COL10A1:NM_000493:exon2:c.T80C:p.M27T exonic ENSG00000123500 NA nonsynonymous SNV ENSG00000123500:ENST00000327673:exon1:c.T80C:p.M27T,ENSG00000123500:ENST00000243222:exon2:c.T80C:p.M27T,ENSG00000123500:ENST00000418500:exon2:c.T80C:p.M27T,ENSG00000123500:ENST00000452729:exon2:c.T80C:p.M27T Score=374;Name=lod=44 NA 6q22.1 NA NA NA NA rs1064583 0.42 0.42 0.449 0.445487 0.3956 0.2579 0.3329 0.736 0.3773 0.39 0.25 0.37 0.7 0.3805 0.7 0.33 T 0.0 B 0.0 B 0.055 N 0.011 P -1.735 N -0.36 T -0.965 T 0.133 T 0.364 -1.633 0.013 6.06 1.593 2.657 8.606 -1.633148 NA 1 0.393488 0.699955 NA 0.377 NA 10.1637454 644 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=Urate levels,Uric acid 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 644 6 112457390 112457390 C T exonic LAMA4 NA nonsynonymous SNV LAMA4:NM_001105206:exon25:c.G3349A:p.G1117S,LAMA4:NM_001105207:exon25:c.G3328A:p.G1110S,LAMA4:NM_002290:exon25:c.G3328A:p.G1110S exonic ENSG00000112769 NA nonsynonymous SNV ENSG00000112769:ENST00000424408:exon24:c.G3328A:p.G1110S,ENSG00000112769:ENST00000230538:exon25:c.G3349A:p.G1117S,ENSG00000112769:ENST00000389463:exon25:c.G3328A:p.G1110S,ENSG00000112769:ENST00000522006:exon25:c.G3328A:p.G1110S Score=538;Name=lod=205 NA 6q21 NA NA NA NA rs2032567 0.8 0.8 0.797 0.839856 0.7087 0.873 0.83 0.8805 0.8926 0.69 0.86 0.8 0.87 0.7691 0.87 1 T 0.001 B 0.0 B 0.052 N 0.000 P 0.205 N -1.16 T -1.082 T 0.095 T 0.077 0.64 7.436 5.93 1.068 3.709 12.152 0.639686 NA 0.87 0.696512 0.858375 NA 0.688 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000037364.1|RCV000126526.1;CLNDSDB=.|.;CLNDSDBID=.|. 10.1590214 644 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,E2F6_(H-50),E2F6,RFX5_(N-494),Pol2-4H8 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 644 17 39334241 39334241 G C exonic KRTAP4-2 NA nonsynonymous SNV KRTAP4-2:NM_033062:exon1:c.C176G:p.T59S exonic ENSG00000244537 NA nonsynonymous SNV ENSG00000244537:ENST00000377726:exon1:c.C176G:p.T59S NA NA 17q21.2 NA NA NA NA rs62067292 0.03 0.03 0.018 0.0191693 0.0716 NA 0.0173 0.0023 0.0092 0.07 NA 0.02 NA 0.0439 0.07 0.86 T 0.449 B 0.372 B 0.488 N 1.000 N 0.66 N 5.0 T -0.944 T 0.001 T 0.039 0.443 6.408 -9.33 -1.635 -5.132 23.988 0.443409 NA 0.31 0.059576 0.013176 NA NA NA 10.1582574 644 11 116633947 116633947 G A exonic BUD13 NA nonsynonymous SNV BUD13:NM_001159736:exon4:c.C358T:p.R120C,BUD13:NM_032725:exon4:c.C358T:p.R120C exonic ENSG00000137656 NA nonsynonymous SNV ENSG00000137656:ENST00000260210:exon4:c.C358T:p.R120C,ENSG00000137656:ENST00000375445:exon4:c.C358T:p.R120C NA NA 11q23.3 NA NA NA NA rs10488698 0.06 0.06 0.037 0.0491214 0.0596 0.0675 0.1052 0.0015 0.044 0.05 0.07 0.11 0.002 0.0641 0.11 0 D 0.011 B 0.002 B 0.352 N 1.000 P 0.85 L 2.05 T -1.044 T 0.001 T 0.027 0.116 4.626 3.9 0.777 1.100 9.983 0.116344 NA 0.16 0.054133 0.011369 NA 0.072 NA 10.1555004 645 11 56113593 56113593 C A exonic OR8K1 NA nonsynonymous SNV OR8K1:NM_001002907:exon1:c.C79A:p.P27T exonic ENSG00000150261 NA nonsynonymous SNV ENSG00000150261:ENST00000279783:exon1:c.C79A:p.P27T NA NA 11q12.1 NA NA NA NA rs10896272 0.43 0.43 0.388 0.455671 0.3708 0.6438 0.598 0.2133 0.5757 0.35 0.64 0.59 0.19 0.436 0.64 0.02 D 0.224 B 0.089 B 0.005 N 1.000 P 2.42 M 7.44 T -1.097 T 0.000 T 0.208 3.15 16.53 4.26 2.387 -0.062 8.944 3.150464 3.150464 0.02 0.371741 0.248069 NA 0.341 NA 10.1547924 645 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 645 9 449874 449874 G C exonic DOCK8 NA nonsynonymous SNV DOCK8:NM_001190458:exon43:c.G5608C:p.A1870P,DOCK8:NM_001193536:exon44:c.G5704C:p.A1902P,DOCK8:NM_203447:exon45:c.G5908C:p.A1970P exonic ENSG00000107099 NA nonsynonymous SNV ENSG00000107099:ENST00000382329:exon32:c.G4309C:p.A1437P,ENSG00000107099:ENST00000469391:exon43:c.G5608C:p.A1870P,ENSG00000107099:ENST00000432829:exon45:c.G5704C:p.A1902P,ENSG00000107099:ENST00000453981:exon45:c.G5908C:p.A1970P Score=551;Name=lod=232 NA 9p24.3 NA NA NA NA rs34908836 0.07 0.07 0.076 0.102436 0.0696 0.0099 0.0519 0.1543 0.1973 0.06 0.01 0.05 0.16 0.0646 0.16 0.16 T 0.0 B 0.008 B 0.000 N 0.000 P 0.385 N 2.18 T -1.063 T 0.000 T 0.112 1.428 10.71 3.68 0.452 2.937 18.654 1.427945 1.427945 0.63 0.045581 0.132547 NA 0.08 NA 10.1535524 645 5 33989518 33989518 C T exonic AMACR NA nonsynonymous SNV AMACR:NM_001167595:exon5:c.G829A:p.E277K,AMACR:NM_014324:exon5:c.G829A:p.E277K exonic ENSG00000242110 NA nonsynonymous SNV ENSG00000242110:ENST00000335606:exon5:c.G829A:p.E277K,ENSG00000242110:ENST00000382085:exon5:c.G829A:p.E277K,ENSG00000242110:ENST00000502637:exon5:c.G784A:p.E262K Score=440;Name=lod=82 NA 5p13.2 NA NA NA NA rs2278008 0.77 0.77 0.764 0.696086 0.7326 0.876 0.6484 0.7912 0.3783 0.74 0.87 0.69 0.75 0.7016 0.87 0.96 T 0.0 B 0.001 B 0.001 N 0.000 P 0 N 0.75 T -0.948 T 0.000 T 0.037 0.208 5.12 5.7 1.082 2.046 6.320 0.207727 NA 1 0.746512 0.783704 NA 0.797 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116324.2;CLNDSDB=.;CLNDSDBID=. 10.1526214 645 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$ARNT_01 Name=EBF,EBF1_(C-8) Name=5 NA rs2230929 0.13 0.13 0.121 0.0916534 0.1968 0.0546 0.098 0.0651 0.0532 0.2 0.07 0.14 0.07 0.144 0.2 . . . . . . . . 0.000 P . . . . -0.996 T 0.000 T . 0.096 4.516 -11.4 -2.469 -0.668 16.227 0.095814 NA NA 0.173372 0.096686 ID=COSM149389;OCCURENCE=1(stomach) 0.196 NA 10.1524946 645 1 152732106 152732106 A T exonic KPRP NA nonsynonymous SNV KPRP:NM_001025231:exon2:c.A42T:p.Q14H exonic ENSG00000203786 NA nonsynonymous SNV ENSG00000203786:ENST00000606109:exon1:c.A42T:p.Q14H,ENSG00000203786:ENST00000368773:exon2:c.A42T:p.Q14H Score=363;Name=lod=40 NA 1q21.3 Score=821;Name=V$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 645 19 2252990 2252990 C G exonic JSRP1 NA nonsynonymous SNV JSRP1:NM_144616:exon6:c.G449C:p.G150A exonic ENSG00000167476 NA nonsynonymous SNV ENSG00000167476:ENST00000586471:exon5:c.G449C:p.G150A,ENSG00000167476:ENST00000300961:exon6:c.G449C:p.G150A NA NA 19p13.3 NA NA NA NA rs80043033 0.2 0.2 0.176 0.179513 0.2376 0.3234 0.1916 0.0091 0.1933 0.23 0.33 0.19 0.01 0.245 0.33 0.48 T 0.543 P 0.248 B 0.366 N 1.000 P 0.895 L 0.29 T -1.002 T 0.000 T 0.061 2.849 15.49 2.73 2.169 1.062 8.765 2.84918 2.84918 0.24 0.201048 0.04161 NA 0.21 NA 10.1496854 645 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 645 9 123725926 123725926 T G exonic C5 NA nonsynonymous SNV C5:NM_001735:exon34:c.A4311C:p.E1437D exonic ENSG00000106804 NA nonsynonymous SNV ENSG00000106804:ENST00000223642:exon34:c.A4311C:p.E1437D Score=325;Name=lod=28 NA 9q33.2 NA NA NA NA rs17612 0.03 0.03 0.019 0.0353435 0.0596 0.002 0.0375 0.0083 0.0798 0.06 NA 0.04 0.01 0.0555 0.07 0.46 T 0.002 B 0.017 B 0.000 N 0.765 D 0.88 L 1.59 T -1.018 T 0.004 T 0.028 1.911 12.35 -2.86 -0.719 -0.254 5.742 1.911353 1.911353 0 0.069767 0.022923 NA 0.065 NA 10.1484664 645 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 645 16 27781309 27781309 G A exonic KIAA0556 NA nonsynonymous SNV KIAA0556:NM_015202:exon21:c.G4103A:p.R1368Q exonic ENSG00000047578 NA nonsynonymous SNV ENSG00000047578:ENST00000261588:exon21:c.G4103A:p.R1368Q NA NA 16p12.1 NA NA Name=67 NA rs11644502 0.03 0.03 0.027 0.0291534 0.0656 NA 0.0159 0.003 0.0665 0.06 0.0017 0.02 0.01 0.0558 0.067 1 T 0.0 B 0.001 B 0.000 N 1.000 N -2.095 N 2.58 T -0.949 T 0.001 T 0.03 -0.454 1.898 3.88 0.766 3.795 7.368 -0.4539 NA NA 0.06686 0.010924 NA 0.123 NA 10.1450734 646 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$SEF1_C Name=GTF2F1_(RAP-74),PAX5-N19,TBP,YY1,E2F4,YY1_(C-20),Oct-2,HEY1,TAF1,Pol2-4H8,GABP,POU2F2,E2F6,Pol2,Pol2(phosphoS2),HA-E2F1 NA NA rs7252027 0.2 0.2 0.182 0.198682 0.2396 0.244 0.1686 0.0666 0.3098 0.26 0.26 0.22 0.04 0.2465 0.26 0.19 T 0.938 P 0.363 B 0.481 U 0.998 P 1.39 L -2.25 D -1.097 T 0.000 T 0.037 3.503 17.9 0.166 0.140 0.100 3.575 3.503009 3.503009 0.09 0.203822 0.086856 NA 0.094 NA 10.1434114 646 13 100518580 100518580 A G exonic CLYBL NA nonsynonymous SNV CLYBL:NM_206808:exon6:c.A721G:p.I241V exonic ENSG00000125246 NA nonsynonymous SNV ENSG00000125246:ENST00000419700:exon1:c.A10G:p.I4V,ENSG00000125246:ENST00000376354:exon5:c.A619G:p.I207V,ENSG00000125246:ENST00000376355:exon5:c.A619G:p.I207V,ENSG00000125246:ENST00000444838:exon5:c.A619G:p.I207V,ENSG00000125246:ENST00000339105:exon6:c.A721G:p.I241V,ENSG00000125246:ENST00000376360:exon6:c.A721G:p.I241V Score=473;Name=lod=112 NA 13q32.3 Score=840;Name=V$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 646 19 49485548 49485548 G A exonic GYS1 NA synonymous SNV GYS1:NM_001161587:exon6:c.C834T:p.F278F,GYS1:NM_002103:exon7:c.C1026T:p.F342F exonic ENSG00000104812 NA nonsynonymous SNV ENSG00000104812:ENST00000540532:exon5:c.C668T:p.S223F Score=572;Name=lod=281 NA 19q13.33 NA NA NA NA rs5464 0.27 0.27 0.281 0.254593 0.2922 0.2183 0.2608 0.2943 0.1953 0.26 0.23 0.28 0.32 0.2697 0.32 . . . . . . . . 0.000 P . . 1.74 T -0.938 T 0.000 T . 1.922 12.39 4.16 2.613 1.703 8.583 1.922336 1.922336 NA 0.294767 0.282115 NA 0.435 NA 10.143333 646 3 28533658 28533658 G A exonic ZCWPW2 NA synonymous SNV ZCWPW2:NM_001040432:exon5:c.G651A:p.K217K exonic ENSG00000206559 NA synonymous SNV ENSG00000206559:ENST00000421010:exon5:c.G651A:p.K217K,ENSG00000206559:ENST00000383768:exon6:c.G651A:p.K217K Score=391;Name=lod=52 NA 3p24.1 NA NA NA NA rs13100556 0.23 0.23 0.208 0.25599 0.161 0.4653 0.2291 0.0938 0.3763 0.16 0.45 0.22 0.09 0.2038 0.45 . . . . . . . . 0.000 P . . . . -0.901 T 0.000 T . -0.709 0.944 3.84 1.108 1.240 8.737 -0.708672 NA NA 0.159572 0.09714 NA 0.152 NA 10.1422946 646 5 176936819 176936819 C G exonic DOK3 NA nonsynonymous SNV DOK3:NM_024872:exon1:c.G35C:p.R12P exonic ENSG00000146094 NA nonsynonymous SNV ENSG00000146094:ENST00000357198:exon1:c.G35C:p.R12P NA NA 5q35.3 NA Name=PAX5-N19,Sin3Ak-20,ZEB1_(SC-25388),Pol2-4H8,EBF1_(C-8),Pol2,E2F6_(H-50) Name=28 NA rs3749728 0.14 0.14 0.136 0.146565 0.0517 0.1677 0.098 0.2466 0.1217 0.06 0.2 0.08 0.24 0.0869 0.24 0 D 0.104 B 0.02 B 0.008 U 1.000 P 0 N 2.02 T -0.970 T 0.000 T 0.09 -0.497 1.719 -1.2 -0.168 -0.285 6.154 -0.497217 NA 0 0.053023 0.177793 NA 0.094 NA 10.1417104 646 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 646 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 646 17 77704912 77704912 T C exonic ENPP7 NA nonsynonymous SNV ENPP7:NM_178543:exon1:c.T11C:p.L4P exonic ENSG00000182156 NA nonsynonymous SNV ENSG00000182156:ENST00000328313:exon1:c.T11C:p.L4P NA NA 17q25.3 NA Name=HEY1,HNF4G_(SC-6558),TAF1,HDAC2_(SC-6296),Pol2,HNF4A_(H-171),RXRA,SP1 NA NA rs8074547 0.47 0.47 0.446 0.502796 0.3777 0.5159 0.3314 0.6543 0.5348 0.37 0.54 0.35 0.65 0.4562 0.65 0.09 T 0.0 B 0.0 B 0.005 N 1.000 P 0 N -0.96 T -1.020 T 0.000 T 0.09 0.645 7.464 -8.85 -1.753 -1.578 2.786 0.645289 NA 0 0.359605 0.567832 NA 0.58 NA 10.1398284 646 22 46782382 46782382 C T exonic CELSR1 NA nonsynonymous SNV CELSR1:NM_014246:exon19:c.G6656A:p.R2219H exonic ENSG00000075275 NA nonsynonymous SNV ENSG00000075275:ENST00000262738:exon19:c.G6656A:p.R2219H NA NA 22q13.31 NA Name=E2F6_(H-50),CTCF,CTCF_(SC-5916),GABP NA NA rs34267201 0.03 0.03 0.019 0.0231629 0.0626 0.001 0.0288 0.0053 0.0256 0.06 0.0017 0.03 0.02 0.0675 0.064 0.77 T 0.004 B 0.002 B 0.234 N 1.000 N -1.2 N 3.08 T -0.988 T 0.001 T 0.08 -1.059 0.185 -8.24 -1.654 -0.536 18.870 -1.058632 NA 1 0.063518 0.012517 NA 0.029 NA 10.1397154 646 2 238243292 238243292 G A exonic COL6A3 NA nonsynonymous SNV COL6A3:NM_057166:exon38:c.C7385T:p.T2462I,COL6A3:NM_057167:exon40:c.C8588T:p.T2863I,COL6A3:NM_004369:exon41:c.C9206T:p.T3069I exonic ENSG00000163359 NA nonsynonymous SNV ENSG00000163359:ENST00000472056:exon38:c.C7385T:p.T2462I,ENSG00000163359:ENST00000409809:exon39:c.C8588T:p.T2863I,ENSG00000163359:ENST00000346358:exon40:c.C8606T:p.T2869I,ENSG00000163359:ENST00000347401:exon40:c.C8603T:p.T2868I,ENSG00000163359:ENST00000353578:exon40:c.C8588T:p.T2863I,ENSG00000163359:ENST00000295550:exon41:c.C9206T:p.T3069I Score=304;Name=lod=23 NA 2q37.3 Score=823;Name=V$ER_Q6 Name=PAX5-C20 NA NA rs1131296 0.38 0.38 0.389 0.346246 0.4036 0.4802 0.3256 0.2504 0.2935 0.39 0.5 0.33 0.26 0.3884 0.5 0.34 T 0.003 B 0.006 B 0.719 N 0.000 P 0.345 N 1.58 T -0.901 T 0.000 T 0.053 1.587 11.26 -1.13 -0.602 0.603 9.599 1.586755 1.586755 NA 0.40186 0.285066 NA 0.413 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081023.2;CLNDSDB=.;CLNDSDBID=. 10.1394734 646 16 24918048 24918048 C T exonic SLC5A11 NA nonsynonymous SNV SLC5A11:NM_001258414:exon10:c.C679T:p.R227C exonic ENSG00000158865 NA nonsynonymous SNV ENSG00000158865:ENST00000569071:exon9:c.C679T:p.R227C,ENSG00000158865:ENST00000449109:exon10:c.C679T:p.R227C Score=371;Name=lod=43 NA 16p12.1 NA NA NA NA rs17772929 0.26 0.26 0.26 0.237021 0.4254 0.0169 0.2565 0.3026 0.1677 0.44 0.02 0.28 0.26 0.3384 0.44 0 D 0.007 B 0.001 B . . 0.000 P . . -1.79 D -0.979 T 0.000 T . 2.903 15.67 -2.83 -0.302 -0.908 11.609 2.903209 2.903209 0.08 0.430465 0.335002 ID=COSM1162532;OCCURENCE=1(pancreas) 0.254 NA 10.1390684 646 9 990653 990653 G T exonic DMRT3 NA nonsynonymous SNV DMRT3:NM_021240:exon2:c.G1067T:p.G356V exonic ENSG00000064218 NA nonsynonymous SNV ENSG00000064218:ENST00000190165:exon2:c.G1067T:p.G356V NA NA 9p24.3 Score=870;Name=V$NF1_Q6 NA NA NA rs16927037 0.06 0.06 0.056 0.0543131 0.0646 0.0754 0.0879 0.0182 0.047 0.06 0.08 0.09 0.02 0.0658 0.09 0.51 T 0.0 B 0.0 B 0.184 N 0.999 N -0.895 N 2.24 T -0.958 T 0.001 T 0.068 -1.868 0.008 3.79 0.232 4.676 11.956 -1.868069 NA 0.94 0.066163 0.026555 NA 0.058 NA 10.1367704 647 6 116756773 116756773 T C exonic DSE NA nonsynonymous SNV DSE:NM_001080976:exon6:c.T1142C:p.V381A,DSE:NM_013352:exon6:c.T1142C:p.V381A exonic ENSG00000111817 NA nonsynonymous SNV ENSG00000111817:ENST00000359564:exon6:c.T1142C:p.V381A,ENSG00000111817:ENST00000452085:exon6:c.T1142C:p.V381A,ENSG00000111817:ENST00000537543:exon6:c.T1199C:p.V400A,ENSG00000111817:ENST00000331677:exon7:c.T1142C:p.V381A NA NA 6q22.1 NA NA NA NA rs41313440 0.03 0.03 0.02 0.0203674 0.0765 NA 0.0187 0.003 0.0082 0.08 NA 0.03 0.002 0.0552 0.08 0.78 T 0.015 B 0.025 B 0.002 N 1.000 N 0 N 2.33 T -0.925 T 0.007 T 0.084 -0.611 1.278 4.82 1.076 2.367 9.405 -0.611203 NA 0.75 0.066977 0.012483 NA 0.007 NA 10.1346564 647 10 7780646 7780646 C G exonic ITIH2 NA nonsynonymous SNV ITIH2:NM_002216:exon16:c.C2020G:p.P674A exonic ENSG00000151655 NA nonsynonymous SNV ENSG00000151655:ENST00000379587:exon15:c.C1987G:p.P663A,ENSG00000151655:ENST00000358415:exon16:c.C2020G:p.P674A NA NA 10p14 NA NA NA NA rs3740217 0.09 0.09 0.077 0.0840655 0.0626 0.2351 0.0274 0.0091 0.092 0.07 0.21 0.03 0.02 0.076 0.21 0.18 T 0.002 B 0.007 B 0.000 N 1.000 P 1.825 L 4.68 T -0.902 T 0.000 T 0.121 1.033 9.22 5.23 2.451 1.918 7.649 1.033127 NA 0.21 0.060349 0.020881 NA 0.051 NA 10.1343844 647 4 69964338 69964338 T C exonic UGT2B7 NA nonsynonymous SNV UGT2B7:NM_001074:exon2:c.T802C:p.Y268H exonic ENSG00000171234 NA nonsynonymous SNV ENSG00000171234:ENST00000305231:exon2:c.T802C:p.Y268H,ENSG00000171234:ENST00000508661:exon2:c.T802C:p.Y268H,ENSG00000171234:ENST00000502942:exon3:c.T55C:p.Y19H Score=461;Name=lod=100 NA 4q13.2 NA Name=CEBPB,FOXA2_(SC-6554),TCF4,SP1,STAT3,FOXA1_(C-20),FOXA1_(SC-101058),HDAC2_(SC-6296),p300 Name=12 NA rs7439366 0.53 0.53 0.032 0.665136 0.5149 0.7252 0.6801 0.7731 0.6012 0.41 0.62 0.58 0.59 0.5597 0.62 . . 0.0 B 0.001 B 0.002 N 1.000 P . . 0.28 T -0.919 T 0.000 T 0.044 -0.789 0.705 1.83 0.441 1.919 7.708 -0.789279 NA 0.49 0.125378 0.281888 NA NA NA 10.1333554 647 17 64216854 64216854 A G exonic APOH NA nonsynonymous SNV APOH:NM_000042:exon5:c.T422C:p.I141T exonic ENSG00000091583 NA nonsynonymous SNV ENSG00000091583:ENST00000205948:exon5:c.T422C:p.I141T,ENSG00000091583:ENST00000581797:exon5:c.T242C:p.I81T,ENSG00000091583:ENST00000577982:exon6:c.T422C:p.I141T NA NA 17q24.2 Score=892;Name=V$SREBP1_01 NA NA NA rs52797880 0.08 0.08 0.076 0.0702875 0.0696 0.0516 0.0418 0.115 0.0501 0.07 0.06 0.04 0.13 0.066 0.13 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.815 N 1.94 T -0.984 T 0.000 T 0.299 -0.67 1.071 3.37 0.253 1.743 5.933 -0.670004 NA 1 0.065116 0.090104 NA 0.065 NA 10.1326174 647 10 135053721 135053721 C A exonic VENTX NA nonsynonymous SNV VENTX:NM_014468:exon3:c.C688A:p.P230T exonic ENSG00000151650 NA nonsynonymous SNV ENSG00000151650:ENST00000325980:exon3:c.C688A:p.P230T NA NA 10q26.3 NA NA NA NA rs9419033 0.09 0.09 0.082 0.102236 0.0586 0.0823 0.1354 0.1157 0.1258 0.05 0.08 0.13 0.13 0.0842 0.13 0 D 0.981 D 0.431 B 0.001 U 1.000 P 0.695 N -2.89 D -0.747 T 0.012 T 0.051 2.015 12.69 0.163 0.042 0.502 4.534 2.015024 2.015024 0 0.058935 0.105227 NA 0.058 NA 10.1315984 647 1 158517142 158517142 C T exonic OR6Y1 NA nonsynonymous SNV OR6Y1:NM_001005189:exon1:c.G754A:p.V252I exonic ENSG00000197532 NA nonsynonymous SNV ENSG00000197532:ENST00000302617:exon1:c.G754A:p.V252I NA NA 1q23.1 NA NA NA NA rs41273491 0.23 0.23 0.206 0.201478 0.2416 0.377 0.219 0.0537 0.1667 0.25 0.39 0.2 0.06 0.2317 0.39 0.17 T 0.983 D 0.523 P 0.002 N 1.000 P 3 M 8.43 T -0.967 T 0.000 T 0.062 2.738 15.12 3.5 0.827 0.454 6.228 2.737955 2.737955 0.11 0.230814 0.089877 ID=COSM170744;OCCURENCE=1(large_intestine) 0.188 NA 10.1292194 647 22 37485724 37485724 T C exonic TMPRSS6 NA nonsynonymous SNV TMPRSS6:NM_153609:exon7:c.A757G:p.K253E exonic ENSG00000187045 NA nonsynonymous SNV ENSG00000187045:ENST00000346753:exon7:c.A757G:p.K253E,ENSG00000187045:ENST00000381792:exon7:c.A730G:p.K244E,ENSG00000187045:ENST00000406725:exon7:c.A730G:p.K244E,ENSG00000187045:ENST00000406856:exon7:c.A730G:p.K244E,ENSG00000187045:ENST00000442782:exon7:c.A757G:p.K253E NA NA 22q12.3 NA NA Name=12 NA rs2235324 0.39 0.39 0.363 0.390375 0.4254 0.4008 0.3329 0.4009 0.3701 0.41 0.42 0.34 0.37 0.3979 0.42 0.69 T 0.001 B 0.001 B 0.263 N 1.000 P -0.345 N 0.37 T -1.026 T 0.000 T 0.026 -1.062 0.181 -9.17 -1.242 -1.869 9.198 -1.062264 NA 0.92 0.381395 0.425034 NA 0.29 NA 10.1286384 647 17 79668135 79668135 G T exonic HGS NA nonsynonymous SNV HGS:NM_004712:exon21:c.G2197T:p.A733S exonic ENSG00000185359 NA nonsynonymous SNV ENSG00000185359:ENST00000575078:exon3:c.G199T:p.A67S,ENSG00000185359:ENST00000329138:exon21:c.G2197T:p.A733S NA NA 17q25.3 NA Name=ZNF263 NA NA rs56058441 0.11 0.11 0.124 0.103235 0.0716 0.2232 0.0461 0.0794 0.0849 0.07 0.22 0.04 0.08 0.0718 0.22 0.89 T 0.0 B 0.001 B 0.000 N 1.000 P -0.345 N 1.11 T -1.097 T 0.000 T 0.283 -0.366 2.275 -9.22 -3.177 -0.882 3.847 -0.366094 NA 0.37 0.061395 0.073536 NA 0.13 NA 10.1285384 647 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 647 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 647 7 100388628 100388628 C A exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA nonsynonymous SNV ENSG00000146839:ENST00000538115:exon40:c.C7419A:p.N2473K,ENSG00000146839:ENST00000542585:exon40:c.C7419A:p.N2473K,ENSG00000146839:ENST00000546292:exon40:c.C7419A:p.N2473K NA NA 7q22.1 NA NA NA NA rs77705466 0.01 0.01 0.009 0.00339457 0.0149 NA 0.0029 NA NA 0.02 NA 0.0028 NA 0.0115 0.02 0.1 T 0.458 P 0.333 B 0.141 N 0.918 D . . 0.22 T -0.834 T 0.101 T 0.126 1.058 9.321 3.67 1.217 0.935 9.207 1.058001 NA NA 0.012826 0.002055 NA NA NA 10.1274407 647 17 6904934 6904934 A G exonic ALOX12 NA nonsynonymous SNV ALOX12:NM_000697:exon8:c.A965G:p.N322S exonic ENSG00000108839 NA nonsynonymous SNV ENSG00000108839:ENST00000251535:exon8:c.A965G:p.N322S Score=415;Name=lod=65 NA 17p13.1 Score=790;Name=V$PPARG_03 Name=CTCF NA NA rs434473 0.34 0.34 0.32 0.341254 0.4016 0.4712 0.268 0.1528 0.4519 0.4 0.46 0.3 0.16 0.3844 0.46 0.8 T 0.0 B 0.004 B 0.100 N 0.999 P -0.06 N -1.0 T -1.019 T 0.000 T 0.017 -0.763 0.78 -4.4 -0.672 -0.487 8.230 -0.762597 NA 0.76 0.421628 0.195642 NA 0.261 NA 10.1257054 647 10 135053604 135053604 G A exonic VENTX NA nonsynonymous SNV VENTX:NM_014468:exon3:c.G571A:p.G191R exonic ENSG00000151650 NA nonsynonymous SNV ENSG00000151650:ENST00000325980:exon3:c.G571A:p.G191R NA NA 10q26.3 NA NA NA NA rs9418952 0.09 0.09 0.084 0.101837 0.0586 0.0823 0.134 0.1165 0.1237 0.05 0.08 0.13 0.13 0.0834 0.14 0.35 T 0.004 B 0.001 B 0.857 N 1.000 P 0.695 N -2.81 D -0.999 T 0.009 T 0.169 0.495 6.686 -2.11 -0.556 -0.997 2.702 0.495235 NA 0.02 0.066178 0.115402 NA 0.116 NA 10.1251554 647 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 648 17 3953102 3953102 A G exonic ZZEF1 NA nonsynonymous SNV ZZEF1:NM_015113:exon37:c.T5915C:p.L1972P exonic ENSG00000074755 NA nonsynonymous SNV ENSG00000074755:ENST00000381638:exon37:c.T5915C:p.L1972P NA NA 17p13.2 NA Name=NRSF NA NA rs781852 0.47 0.47 0.496 0.47504 0.4026 0.247 0.4092 0.8154 0.3712 0.4 0.27 0.44 0.82 0.4132 0.82 0.28 T 0.0 B 0.0 B 0.000 N 1.000 P -0.345 N 2.1 T -1.052 T 0.000 T 0.38 1.357 10.46 5.46 1.470 3.513 11.891 1.357175 1.357175 0.12 0.393488 0.758284 ID=COSM1383563;OCCURENCE=1(large_intestine) 0.493 NA 10.1240454 648 1 21573855 21573855 G A exonic ECE1 NA nonsynonymous SNV ECE1:NM_001113347:exon7:c.C986T:p.T329I,ECE1:NM_001113349:exon8:c.C1013T:p.T338I,ECE1:NM_001113348:exon9:c.C974T:p.T325I,ECE1:NM_001397:exon9:c.C1022T:p.T341I exonic ENSG00000117298 NA nonsynonymous SNV ENSG00000117298:ENST00000357071:exon7:c.C986T:p.T329I,ENSG00000117298:ENST00000264205:exon8:c.C1013T:p.T338I,ENSG00000117298:ENST00000374893:exon9:c.C1022T:p.T341I,ENSG00000117298:ENST00000415912:exon9:c.C974T:p.T325I,ENSG00000117298:ENST00000436918:exon9:c.C1022T:p.T341I NA NA 1p36.12 Score=868;Name=V$NF1_Q6 NA NA NA rs1076669 0.04 0.04 0.026 0.0285543 0.0785 NA 0.0317 0.0038 0.0378 0.09 NA 0.04 0.0041 0.0555 0.09 0.18 T 0.04 B 0.063 B 0.142 N 1.000 N 1.09 L -0.81 T -1.102 T 0.015 T 0.118 1.712 11.68 4.56 2.561 0.811 7.444 1.711809 1.711809 0.13 0.075465 0.01498 NA 0.029 NA 10.1238684 648 3 121353254 121353254 T C exonic HCLS1 NA nonsynonymous SNV HCLS1:NM_005335:exon10:c.A703G:p.T235A exonic ENSG00000180353 NA nonsynonymous SNV ENSG00000180353:ENST00000428394:exon9:c.A592G:p.T198A,ENSG00000180353:ENST00000314583:exon10:c.A703G:p.T235A Score=549;Name=lod=227 NA 3q13.33 NA NA Name=2 NA rs2070179 0.69 0.69 0.699 0.651558 0.7515 0.8492 0.4798 0.5681 0.5798 0.75 0.86 0.52 0.55 0.6997 0.86 1 T 0.0 B 0.001 B 0.000 N 0.999 P -1.245 N 2.27 T -0.986 T 0.000 T 0.055 0.602 7.242 5.29 1.472 2.098 10.007 0.601524 NA 1 0.759884 0.616659 NA 0.725 NA 10.1222494 648 1 22191454 22191454 G A exonic HSPG2 NA nonsynonymous SNV HSPG2:NM_005529:exon36:c.C4508T:p.A1503V exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000374695:exon36:c.C4508T:p.A1503V NA NA 1p36.12 NA NA NA NA rs897471 0.74 0.74 0.741 0.691494 0.7256 0.8889 0.781 0.5893 0.5276 0.73 0.89 0.77 0.57 0.7463 0.89 0.07 T 1.0 D 0.997 D 0.002 N 0.999 P 1.5 L 1.27 T -1.100 T 0.000 T 0.088 3.514 17.95 4.37 1.192 2.260 12.819 3.514289 3.514289 0.18 0.739632 0.619808 NA 0.688 NA 10.1218014 648 16 417757 417757 T C exonic MRPL28 NA nonsynonymous SNV MRPL28:NM_006428:exon6:c.A689G:p.Y230C exonic ENSG00000086504 NA nonsynonymous SNV ENSG00000086504:ENST00000199706:exon6:c.A689G:p.Y230C,ENSG00000086504:ENST00000389675:exon6:c.A689G:p.Y230C,ENSG00000086504:ENST00000441883:exon6:c.A689G:p.Y230C Score=439;Name=lod=81 NA 16p13.3 NA NA NA NA rs13226 0.04 0.04 0.018 0.0297524 0.0706 0.001 0.0533 0.0038 0.0358 0.07 NA 0.06 0.0041 0.0569 0.086 0.15 T 0.031 B 0.031 B 0.002 N 1.000 D 1.135 L 1.52 T -1.104 T 0.003 T 0.441 0.189 5.02 3.57 0.663 0.153 9.916 0.189305 NA 0.09 0.086279 0.016568 NA 0.022 NA 10.1195544 648 1 59042181 59042181 G T exonic TACSTD2 NA nonsynonymous SNV TACSTD2:NM_002353:exon1:c.C648A:p.D216E exonic ENSG00000184292 NA nonsynonymous SNV ENSG00000184292:ENST00000371225:exon1:c.C648A:p.D216E Score=521;Name=lod=175 NA 1p32.1 NA Name=Nrf1 Name=9 NA rs14008 0.12 0.12 0.123 0.157149 0.0497 0.1379 0.0533 0.3449 0.1074 0.05 0.14 0.05 0.27 0.0976 0.31 0.26 T 0.057 B 0.02 B 0.037 N 0.782 P 0.37 N -1.1 T -1.065 T 0.000 T 0.084 0.854 8.456 0.165 0.146 -0.111 5.126 0.854221 NA 0.33 0.067404 0.309199 NA 0.196 NA 10.1186294 648 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 648 11 5443963 5443963 G A exonic OR51Q1 NA nonsynonymous SNV OR51Q1:NM_001004757:exon1:c.G533A:p.R178H exonic ENSG00000167360 NA nonsynonymous SNV ENSG00000167360:ENST00000300778:exon1:c.G533A:p.R178H Score=410;Name=lod=62 NA 11p15.4 NA NA NA NA rs10838095 0.44 0.44 0.408 0.453474 0.3976 0.7024 0.3991 0.2799 0.5276 0.37 0.69 0.41 0.28 0.425 0.69 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.43 N 8.88 T -0.989 T 0.000 T 0.161 -1.632 0.013 5.0 0.960 3.515 9.981 -1.632241 NA 1 0.39225 0.30259 NA 0.319 NA 10.1184834 648 19 10475649 10475649 C T exonic TYK2 NA nonsynonymous SNV TYK2:NM_003331:exon8:c.G1087A:p.G363S exonic ENSG00000105397 NA nonsynonymous SNV ENSG00000105397:ENST00000524462:exon4:c.G532A:p.G178S,ENSG00000105397:ENST00000264818:exon6:c.G1087A:p.G363S,ENSG00000105397:ENST00000525621:exon8:c.G1087A:p.G363S,ENSG00000105397:ENST00000529370:exon8:c.G1087A:p.G363S NA NA 19p13.2 NA NA NA NA rs2304255 0.04 0.04 0.035 0.04373 0.0746 0.0298 0.0403 0.0053 0.0808 0.07 0.03 0.06 0.01 0.064 0.078 0.56 T 0.068 B 0.002 B 0.007 N 1.000 N 0.345 N 3.07 T -0.979 T 0.001 T 0.116 1.304 10.27 -6.36 -1.143 -2.683 6.797 1.303916 1.303916 0.56 0.078372 0.017476 NA 0.007 NA 10.1163614 648 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 648 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=c-Jun,GR 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 649 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 649 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 649 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 649 6 70407465 70407465 A T exonic LMBRD1 NA nonsynonymous SNV LMBRD1:NM_018368:exon14:c.T1407A:p.D469E exonic ENSG00000168216 NA nonsynonymous SNV ENSG00000168216:ENST00000370570:exon13:c.T1188A:p.D396E,ENSG00000168216:ENST00000370577:exon14:c.T1407A:p.D469E Score=527;Name=lod=184 NA 6q13 Score=805;Name=V$TAXCREB_02 NA NA NA rs12648 0.39 0.39 0.385 0.384784 0.4324 0.5645 0.4337 0.1203 0.4734 0.43 0.56 0.4 0.15 0.392 0.56 0.94 T 0.013 B 0.009 B 0.000 D 0.003 P 0.515 N 2.32 T -0.921 T 0.006 T 0.057 2.403 13.99 1.99 0.111 3.360 6.324 2.403229 2.403229 0.33 0.399651 0.154562 NA 0.283 NA 10.1092824 649 17 7254315 7254315 G A exonic ACAP1 NA nonsynonymous SNV ACAP1:NM_014716:exon21:c.G2119A:p.A707T exonic ENSG00000072818 NA nonsynonymous SNV ENSG00000072818:ENST00000575415:exon1:c.G31A:p.A11T,ENSG00000072818:ENST00000570504:exon2:c.G31A:p.A11T,ENSG00000072818:ENST00000571471:exon2:c.G31A:p.A11T,ENSG00000072818:ENST00000574499:exon2:c.G94A:p.A32T,ENSG00000072818:ENST00000158762:exon21:c.G2119A:p.A707T Score=537;Name=lod=203 NA 17p13.1 Score=918;Name=V$AREB6_01 Name=Pol2 NA NA rs35985803 0.04 0.04 0.03 0.0427316 0.0716 0.0357 0.0389 0.0151 0.0603 0.07 0.02 0.06 0.02 0.0701 0.085 0.37 T 0.0 B 0.001 B 0.279 N 0.891 N 0.255 N -0.72 T -1.108 T 0.010 T 0.088 1.972 12.55 0.24 -0.061 0.407 7.096 1.972076 1.972076 0.47 0.084651 0.027009 NA 0.022 NA 10.1069824 649 18 50432602 50432602 C G exonic DCC NA nonsynonymous SNV DCC:NM_005215:exon3:c.C601G:p.R201G exonic ENSG00000187323 NA nonsynonymous SNV ENSG00000187323:ENST00000412726:exon3:c.C145G:p.R49G,ENSG00000187323:ENST00000442544:exon3:c.C601G:p.R201G Score=472;Name=lod=111 NA 18q21.2 NA NA NA NA rs2229080 0.46 0.46 0.451 0.477436 0.4155 0.5387 0.4813 0.3427 0.6575 0.42 0.57 0.44 0.39 0.4447 0.57 0.03 D 0.798 P 0.483 P 0.000 D 0.000 P 0.675 N 1.11 T -0.913 T 0.000 T 0.478 1.884 12.26 -0.494 -0.304 -0.023 17.824 1.883736 1.883736 0.28 0.367093 0.344303 NA 0.42 NA 10.1060404 649 21 47852085 47852085 G A exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon38:c.G8707A:p.A2903T exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon38:c.G8707A:p.A2903T NA NA 21q22.3 NA NA Name=3 NA rs35147998 0.05 0.05 0.049 0.0385383 0.0815 0.0129 0.0576 0.0091 0.047 0.08 0.01 0.08 0.01 0.0635 0.083 0.51 T 0.089 B 0.019 B . . 1.000 N 0 N 4.88 T -0.881 T 0.000 T 0.033 0.769 8.066 2.0 0.585 3.812 8.489 0.769098 NA 0.09 0.082791 0.017022 NA 0.014 NA 10.1055424 650 12 57109792 57109792 A G exonic NACA NA nonsynonymous SNV NACA:NM_001113203:exon5:c.T2063C:p.L688P exonic ENSG00000196531 NA nonsynonymous SNV ENSG00000196531:ENST00000454682:exon3:c.T5522C:p.L1841P,ENSG00000196531:ENST00000550952:exon5:c.T2063C:p.L688P Score=607;Name=lod=391 NA 12q13.3 Score=846;Name=V$TST1_01 Name=Pol2(b),Pol2(phosphoS2),Pol2 NA NA rs2958149 0.78 0.78 0.752 0.809105 0.7316 0.748 0.7594 0.9092 0.8517 0.73 0.76 0.78 0.9 0.7774 0.9 0.71 T 0.0 B 0.0 B . . 0.000 P -0.55 N 1.11 T -1.001 T 0.000 T 0.093 -0.644 1.161 4.08 0.932 3.591 10.999 -0.643742 NA 0.26 0.721106 0.897003 NA 0.717 NA 10.1032274 650 14 20345346 20345346 A T exonic OR4K2 NA nonsynonymous SNV OR4K2:NM_001005501:exon1:c.A920T:p.N307I exonic ENSG00000165762 NA nonsynonymous SNV ENSG00000165762:ENST00000298642:exon1:c.A920T:p.N307I Score=383;Name=lod=48 NA 14q11.2 NA NA NA NA rs12883767 0.29 0.29 0.241 0.278954 0.4742 0.122 0.2839 0.2239 0.3108 0.46 0.1 0.33 0.24 0.3795 0.46 0.31 T 0.217 B 0.14 B 0.012 N 0.813 P 0 N 3.28 T -0.961 T 0.000 T 0.113 0.47 6.549 2.87 1.021 1.415 6.746 0.469523 NA 0.14 0.378083 0.224342 NA 0.319 NA 10.1015504 650 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 650 2 113675269 113675269 C T exonic IL37 NA nonsynonymous SNV IL37:NM_173203:exon2:c.C140T:p.P47L,IL37:NM_173202:exon3:c.C260T:p.P87L,IL37:NM_173204:exon3:c.C203T:p.P68L,IL37:NM_173205:exon3:c.C245T:p.P82L,IL37:NM_014439:exon4:c.C323T:p.P108L exonic ENSG00000125571 NA nonsynonymous SNV ENSG00000125571:ENST00000349806:exon2:c.C140T:p.P47L,ENSG00000125571:ENST00000311328:exon3:c.C245T:p.P82L,ENSG00000125571:ENST00000352179:exon3:c.C260T:p.P87L,ENSG00000125571:ENST00000353225:exon3:c.C203T:p.P68L,ENSG00000125571:ENST00000263326:exon4:c.C323T:p.P108L NA NA 2q13 NA NA NA NA rs2723187 0.08 0.08 0.079 0.0758786 0.0795 0.001 0.0591 0.174 0.0286 0.07 0.0017 0.07 0.16 0.0721 0.17 0.23 T 1.0 D 0.961 D 0.215 N 1.000 P 2.095 M 1.66 T -1.094 T 0.000 T 0.146 2.029 12.74 0.218 0.031 -0.287 2.793 2.028918 2.028918 0.1 0.080233 0.165683 NA 0.116 NA 10.1015004 650 2 113674721 113674721 A G exonic IL37 NA nonsynonymous SNV IL37:NM_173202:exon2:c.A98G:p.N33S,IL37:NM_173205:exon2:c.A83G:p.N28S,IL37:NM_014439:exon3:c.A161G:p.N54S exonic ENSG00000125571 NA nonsynonymous SNV ENSG00000125571:ENST00000311328:exon2:c.A83G:p.N28S,ENSG00000125571:ENST00000352179:exon2:c.A98G:p.N33S,ENSG00000125571:ENST00000263326:exon3:c.A161G:p.N54S NA NA 2q13 NA NA NA NA rs2723183 0.08 0.08 0.067 0.0760783 0.0805 0.001 0.0591 0.174 0.0286 0.07 0.0017 0.07 0.16 0.0712 0.17 0.75 T 0.006 B 0.006 B 0.002 N 1.000 P 0.345 N 0.52 T -1.083 T 0.000 T 0.044 -1.695 0.011 -4.93 -1.324 -2.677 0.761 -1.694978 NA 0.78 0.080233 0.165683 NA 0.116 NA 10.1014004 650 11 20805286 20805286 G A exonic NELL1 NA nonsynonymous SNV NELL1:NM_006157:exon3:c.G245A:p.R82Q,NELL1:NM_201551:exon3:c.G245A:p.R82Q exonic ENSG00000165973 NA nonsynonymous SNV ENSG00000165973:ENST00000325319:exon3:c.G245A:p.R82Q,ENSG00000165973:ENST00000357134:exon3:c.G245A:p.R82Q,ENSG00000165973:ENST00000532434:exon3:c.G245A:p.R82Q,ENSG00000165973:ENST00000298925:exon4:c.G329A:p.R110Q Score=593;Name=lod=344 NA 11p15.1 NA NA NA NA rs8176785 0.69 0.69 0.629 0.637181 0.7396 0.8393 0.8256 0.2269 0.7444 0.75 0.85 0.83 0.29 0.7362 0.85 0.04 D 0.109 B 0.065 B 0.003 N 0.579 P 2.015 M 4.41 T -1.096 T 0.000 T 0.074 2.747 15.15 3.07 0.423 3.332 11.244 2.746657 2.746657 0.07 0.756279 0.302088 NA 0.609 NA 10.1012544 650 2 113676219 113676219 T C exonic IL37 NA nonsynonymous SNV IL37:NM_173203:exon3:c.T307C:p.W103R,IL37:NM_173202:exon4:c.T427C:p.W143R,IL37:NM_173204:exon4:c.T370C:p.W124R,IL37:NM_173205:exon4:c.T412C:p.W138R,IL37:NM_014439:exon5:c.T490C:p.W164R exonic ENSG00000125571 NA nonsynonymous SNV ENSG00000125571:ENST00000349806:exon3:c.T307C:p.W103R,ENSG00000125571:ENST00000311328:exon4:c.T412C:p.W138R,ENSG00000125571:ENST00000352179:exon4:c.T427C:p.W143R,ENSG00000125571:ENST00000353225:exon4:c.T370C:p.W124R,ENSG00000125571:ENST00000263326:exon5:c.T490C:p.W164R NA NA 2q13 NA NA NA NA rs2708947 0.08 0.08 0.062 0.0766773 0.0815 0.003 0.0591 0.174 0.0286 0.07 0.0017 0.07 0.16 0.0712 0.17 0.35 T 0.0 B 0.0 B 0.038 N 1.000 P -0.69 N 3.01 T -1.002 T 0.000 T 0.006 -0.279 2.666 -7.62 -2.171 -5.273 1.197 -0.278613 NA 0.62 0.080233 0.166591 NA 0.123 NA 10.1004004 650 11 1263523 1263523 G A exonic MUC5B NA nonsynonymous SNV MUC5B:NM_002458:exon31:c.G5413A:p.G1805S exonic ENSG00000117983 NA nonsynonymous SNV ENSG00000117983:ENST00000447027:exon31:c.G5422A:p.G1808S,ENSG00000117983:ENST00000529681:exon31:c.G5413A:p.G1805S NA NA 11p15.5 NA NA NA NA rs1541314 0.07 0.07 0.059 0.0654952 0.0815 0.0496 0.1095 0.0234 0.091 0.08 0.08 0.1 0.02 0.0801 0.1 0 D 0.889 P 0.653 P . . 1.000 P 1.92 M 2.28 T -1.077 T 0.002 T 0.074 2.308 13.68 1.15 -0.043 0.480 7.167 2.308444 2.308444 NA 0.071566 0.016966 NA 0.087 NA 10.1001674 650 8 20036713 20036713 A G exonic SLC18A1 NA nonsynonymous SNV SLC18A1:NM_003053:exon3:c.T407C:p.I136T,SLC18A1:NM_001135691:exon4:c.T407C:p.I136T,SLC18A1:NM_001142324:exon4:c.T407C:p.I136T,SLC18A1:NM_001142325:exon4:c.T407C:p.I136T exonic ENSG00000036565 NA nonsynonymous SNV ENSG00000036565:ENST00000381608:exon2:c.T407C:p.I136T,ENSG00000036565:ENST00000276373:exon3:c.T407C:p.I136T,ENSG00000036565:ENST00000517776:exon3:c.T407C:p.I136T,ENSG00000036565:ENST00000519026:exon3:c.T407C:p.I136T,ENSG00000036565:ENST00000522513:exon3:c.T407C:p.I136T,ENSG00000036565:ENST00000265808:exon4:c.T407C:p.I136T,ENSG00000036565:ENST00000437980:exon4:c.T407C:p.I136T,ENSG00000036565:ENST00000440926:exon4:c.T407C:p.I136T Score=407;Name=lod=60 NA 8p21.3 NA NA NA NA rs1390938 0.74 0.74 0.791 0.744209 0.7465 0.7113 0.5634 0.9259 0.6585 0.73 0.71 0.58 0.92 0.7268 0.92 0.28 T 0.03 B 0.021 B 0.000 D 0.999 P -0.695 N 3.84 T -0.990 T 0.000 T 0.336 3.066 16.24 5.95 1.080 5.544 10.934 3.066281 3.066281 0.32 0.761279 0.908307 NA 0.87 NA 10.0987544 650 4 6302519 6302519 G A exonic WFS1 NA nonsynonymous SNV WFS1:NM_001145853:exon8:c.G997A:p.V333I,WFS1:NM_006005:exon8:c.G997A:p.V333I exonic ENSG00000109501 NA nonsynonymous SNV ENSG00000109501:ENST00000226760:exon8:c.G997A:p.V333I,ENSG00000109501:ENST00000503569:exon8:c.G997A:p.V333I Score=651;Name=lod=590 NA 4p16.1 NA NA NA NA rs1801212 0.86 0.86 0.886 0.884385 0.7296 0.995 0.7767 0.9939 0.8579 0.72 1 0.78 0.99 0.7818 1 0.92 T 0.001 B 0.0 B 0.000 N 1.000 P -1.935 N -1.98 D -0.946 T 0.000 T 0.177 -0.783 0.723 3.4 0.169 3.738 8.382 -0.782904 NA 1 0.723721 0.946891 NA 0.804 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000038668.3;CLNDSDB=.;CLNDSDBID=. 10.0982124 650 8 6479042 6479042 C T exonic MCPH1 NA nonsynonymous SNV MCPH1:NM_024596:exon13:c.C2282T:p.A761V exonic ENSG00000147316 NA nonsynonymous SNV ENSG00000147316:ENST00000344683:exon13:c.C2282T:p.A761V NA NA 8p23.1 NA NA NA NA rs1057090 0.49 0.49 0.475 0.482029 0.4076 0.6716 0.3646 0.4539 0.4847 0.42 0.65 0.4 0.5 0.4362 0.65 1 T . . . . 0.017 N 1.000 P . . -2.34 D -1.003 T 0.000 T 0.036 -0.667 1.08 -8.27 -1.782 -0.677 8.909 -0.667396 NA 1 0.392426 0.444444 NA 0.667 CLINSIG=non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_1;CLNREVSTAT=single;CLNACC=RCV000020900.1;CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet;CLNDSDBID=NBK9587:C1855081:251200:606858:ORPHA2512 10.0971074 650 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 651 19 6374890 6374890 G A exonic ALKBH7 NA nonsynonymous SNV ALKBH7:NM_032306:exon4:c.G572A:p.R191Q exonic ENSG00000125652 NA nonsynonymous SNV ENSG00000125652:ENST00000245812:exon4:c.G572A:p.R191Q,ENSG00000125652:ENST00000596657:exon4:c.G146A:p.R49Q,ENSG00000125652:ENST00000599849:exon4:c.G389A:p.R130Q Score=522;Name=lod=176 NA 19p13.3 Score=825;Name=V$OLF1_01 NA NA NA rs7540 0.04 0.04 0.03 0.0271565 0.0885 0.001 0.0274 0.0038 0.0225 0.08 0.0017 0.03 0.01 0.0607 0.091 0.64 T 0.275 B 0.033 B 0.001 N 0.539 P 1.445 L 0.89 T -1.054 T 0.003 T 0.063 1.609 11.34 3.03 0.695 0.738 7.448 1.60898 1.60898 0.55 0.090698 0.018611 NA 0.036 NA 10.0934354 651 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 651 7 37907304 37907304 T C exonic NME8 NA nonsynonymous SNV NME8:NM_016616:exon11:c.T622C:p.C208R exonic ENSG00000086288 NA nonsynonymous SNV ENSG00000086288:ENST00000440017:exon10:c.T622C:p.C208R,ENSG00000086288:ENST00000199447:exon11:c.T622C:p.C208R Score=417;Name=lod=66 NA 7p14.1 NA NA NA NA rs10250905 0.73 0.73 0.751 0.743411 0.7545 0.5466 0.7349 0.9039 0.7239 0.76 0.55 0.72 0.91 0.7383 0.91 . . 0.001 B 0.0 B 0.000 D 0.000 P 0 N 1.04 T -1.005 T 0.000 T 0.06 1.589 11.27 4.94 1.420 0.995 10.159 1.588573 1.588573 0.09 0.747907 0.863595 NA 0.739 NA 10.0926264 651 12 82752559 82752559 T G exonic METTL25 NA nonsynonymous SNV METTL25:NM_032230:exon1:c.T215G:p.L72R exonic ENSG00000127720 NA nonsynonymous SNV ENSG00000127720:ENST00000248306:exon1:c.T215G:p.L72R,ENSG00000127720:ENST00000548200:exon1:c.T215G:p.L72R NA NA 12q21.31 NA Name=Egr-1,CCNT2,PU.1,ZNF263,SMC3_(ab9263),Rad21,c-Myc,SETDB1,THAP1_(SC-98174),PAX5-C20,CTCF_(C-20),Znf143_(16618-1-AP),NFKB,CTCF_(SC-5916),Pol2-4H8,ELF1_(SC-631),KAP1,HEY1,Pol2,HA-E2F1,CTCF Name=148 NA rs113882703 0.04 0.04 0.04 0.0423323 0.0805 0.002 0.0591 0.0182 0.0654 0.07 0.0017 0.06 0.02 0.0669 0.094 0.38 T 0.0 B 0.0 B 0.125 N 0.987 N -1.43 N 1.49 T -1.053 T 0.001 T 0.081 0.093 4.504 -5.17 -0.704 . 1.300 0.093403 NA 0.81 0.093721 0.031548 NA 0.036 NA 10.0922124 651 11 3714489 3714489 C T exonic NUP98 NA synonymous SNV NUP98:NM_016320:exon27:c.G4284A:p.A1428A,NUP98:NM_139132:exon27:c.G4284A:p.A1428A exonic ENSG00000110713 NA synonymous SNV ENSG00000110713:ENST00000324932:exon27:c.G4284A:p.A1428A,ENSG00000110713:ENST00000355260:exon27:c.G4284A:p.A1428A,ENSG00000110713:ENST00000359171:exon27:c.G4284A:p.A1428A Score=549;Name=lod=228 NA 11p15.4 NA NA NA NA rs1875 0.25 0.25 0.265 0.275759 0.1938 0.3185 0.0965 0.3608 0.3282 0.19 0.33 0.1 0.36 0.2108 0.36 0.03 D . . . . 0.000 D 0.000 P . . . . -0.996 T 0.000 T . 1.254 10.09 -4.15 -0.463 -0.501 0.534 1.253636 1.253636 NA 0.170428 0.328033 NA 0.333 NA 10.0916386 651 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 651 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 651 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 651 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 652 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 652 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 652 10 102116311 102116311 A C exonic SCD NA nonsynonymous SNV SCD:NM_005063:exon5:c.A670C:p.M224L exonic ENSG00000099194 NA nonsynonymous SNV ENSG00000099194:ENST00000370355:exon5:c.A670C:p.M224L NA NA 10q24.31 NA Name=Pol2(b),HEY1,Pol2 NA NA rs2234970 0.42 0.42 0.388 0.388978 0.4245 0.4028 0.5461 0.3631 0.2618 0.43 0.4 0.51 0.37 0.4038 0.51 1 T 0.0 B 0.0 B 0.160 N 1.000 P -3.025 N 2.43 T -0.983 T 0.000 T 0.051 -1.828 0.009 -8.81 -2.211 -3.819 4.468 -1.827876 NA 1 0.421744 0.356332 NA 0.406 NA 10.0832894 652 17 18064730 18064730 C T exonic MYO15A NA synonymous SNV MYO15A:NM_016239:exon56:c.C9486T:p.D3162D exonic ENSG00000091536 NA synonymous SNV ENSG00000091536:ENST00000451725:exon3:c.C162T:p.D54D,ENSG00000091536:ENST00000579848:exon3:c.C201T:p.D67D,ENSG00000091536:ENST00000556535:exon6:c.C348T:p.D116D,ENSG00000091536:ENST00000578472:exon7:c.C348T:p.D116D,ENSG00000091536:ENST00000418233:exon15:c.C1278T:p.D426D,ENSG00000091536:ENST00000205890:exon57:c.C9486T:p.D3162D NA Name=Obesity-related traits 17p11.2 Score=795;Name=V$ARNT_02 Name=SP1,PAX5-N19,TCF12,BCL11A,EBF1_(C-8),NFKB,ELF1_(SC-631) Name=14 NA rs8077577 0.16 0.16 0.156 0.157548 0.2038 0.0149 0.1758 0.2231 0.1554 0.2 0.01 0.21 0.25 0.1767 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130431 NA NA 0.204363 0.205605 NA 0.275 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038998.1;CLNDSDB=.;CLNDSDBID=. 10.0818036 652 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 652 11 237087 237087 A G exonic PSMD13 NA nonsynonymous SNV PSMD13:NM_002817:exon1:c.A38G:p.N13S,PSMD13:NM_175932:exon1:c.A38G:p.N13S exonic ENSG00000185627 NA nonsynonymous SNV ENSG00000185627:ENST00000352303:exon1:c.A38G:p.N13S,ENSG00000185627:ENST00000382671:exon1:c.A38G:p.N13S,ENSG00000185627:ENST00000431206:exon1:c.A38G:p.N13S,ENSG00000185627:ENST00000525665:exon1:c.A38G:p.N13S,ENSG00000185627:ENST00000528906:exon1:c.A38G:p.N13S,ENSG00000185627:ENST00000529372:exon1:c.A38G:p.N13S,ENSG00000185627:ENST00000532097:exon1:c.A38G:p.N13S Score=596;Name=lod=351 NA 11p15.5 NA Name=HEY1,ELF1_(SC-631),HMGN3,TAF1,Pol2-4H8,GABP,Pol2(phosphoS2),Pol2,TBP,CCNT2,ELK4,YY1,YY1_(C-20) NA NA rs1045288 0.8 0.8 0.793 0.817093 0.7316 0.8075 0.83 0.8918 0.8047 0.73 0.81 0.81 0.89 0.7783 0.89 1 T 0.0 B 0.002 B 0.000 N 0.998 P -1.015 N 2.56 T -0.981 T 0.000 T 0.01 0.116 4.622 4.08 1.093 3.321 9.887 0.115571 NA 1 0.743953 0.883341 NA 0.826 NA 10.0794804 652 7 48086161 48086161 T C exonic C7orf57 NA nonsynonymous SNV C7orf57:NM_001267865:exon4:c.T89C:p.M30T,C7orf57:NM_001267866:exon4:c.T89C:p.M30T,C7orf57:NM_001100159:exon5:c.T455C:p.M152T exonic ENSG00000164746 NA nonsynonymous SNV ENSG00000164746:ENST00000435376:exon4:c.T89C:p.M30T,ENSG00000164746:ENST00000348904:exon5:c.T455C:p.M152T,ENSG00000164746:ENST00000420324:exon5:c.T590C:p.M197T,ENSG00000164746:ENST00000430738:exon5:c.T590C:p.M197T,ENSG00000164746:ENST00000539619:exon5:c.T455C:p.M152T Score=451;Name=lod=91 NA 7p12.3 NA Name=SRF Name=7 NA rs10233232 0.84 0.84 0.835 0.821086 0.9543 0.744 0.8588 0.7693 0.8067 0.95 0.75 0.86 0.76 0.8722 0.95 0.67 T 0.763 P 0.173 B 0.033 N 0.992 P 1.445 L 0.93 T -0.902 T 0.000 T 0.183 1.512 11.01 4.27 0.977 0.910 6.275 1.51184 1.51184 0.6 0.928848 0.762003 NA 0.855 NA 10.0779854 652 2 38604351 38604351 A G exonic ATL2 NA nonsynonymous SNV ATL2:NM_001135673:exon1:c.T52C:p.W18R,ATL2:NM_022374:exon1:c.T52C:p.W18R exonic ENSG00000119787 NA nonsynonymous SNV ENSG00000119787:ENST00000378954:exon1:c.T52C:p.W18R,ENSG00000119787:ENST00000405384:exon1:c.T52C:p.W18R,ENSG00000119787:ENST00000416222:exon1:c.T52C:p.W18R,ENSG00000119787:ENST00000419554:exon1:c.T52C:p.W18R,ENSG00000119787:ENST00000449130:exon1:c.T52C:p.W18R,ENSG00000119787:ENST00000451483:exon1:c.T52C:p.W18R,ENSG00000119787:ENST00000456736:exon1:c.T52C:p.W18R Score=376;Name=lod=45 NA 2p22.1 Score=709;Name=V$NRSF_01 Name=HDAC2_(SC-6296),p300,TAF7_(SQ-8),POU2F2,CTCF,E2F6_(H-50),Pol2,Pol2(phosphoS2),FOXA1_(SC-101058),GATA-2,HA-E2F1,HEY1,ETS1,TAF1,HMGN3,NFKB,MEF2A,Pol2-4H8,Sin3Ak-20,E2F4,TCF4,YY1_(C-20),Oct-2,c-Myc,IRF1,SP1,GR,Pol2(b),TBP,CCNT2,NANOG_(SC-33759),YY1,BRCA1_(C-1863) NA NA rs3731847 0.44 0.44 0.456 0.49361 0.4056 0.1974 0.3934 0.82 0.5194 0.4 0.2 0.41 0.81 0.4616 0.81 0.44 T 0.0 B 0.0 B 0.085 N 0.000 P -0.46 N 2.58 T -0.965 T 0.000 T 0.312 -0.24 2.842 0.417 0.006 1.309 0.609 -0.240149 NA 1 0.389821 0.736244 NA 0.007 NA 10.0763124 652 10 133963499 133963499 C T exonic JAKMIP3 NA nonsynonymous SNV JAKMIP3:NM_001105521:exon15:c.C1961T:p.A654V exonic ENSG00000188385 NA nonsynonymous SNV ENSG00000188385:ENST00000298622:exon15:c.C1961T:p.A654V NA NA 10q26.3 NA NA NA NA rs117391524 0.05 0.05 0.061 0.0415335 0.1014 NA 0.085 0.003 0.044 0.1 NA 0.11 0.01 0.0661 0.11 0.27 T 0.394 B 0.061 B . . 1.000 N 1.04 L 1.95 T -1.060 T 0.001 T 0.095 1.097 9.478 2.88 1.697 2.608 12.555 1.097276 NA 0.12 0.090294 0.013291 ID=COSM1599949;OCCURENCE=1(central_nervous_system) 0.022 NA 10.0755394 652 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 653 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 653 11 64066859 64066859 G A exonic KCNK4 NA synonymous SNV KCNK4:NM_033310:exon7:c.G843A:p.T281T exonic ENSG00000182450 NA nonsynonymous SNV ENSG00000182450:ENST00000538767:exon6:c.G496A:p.G166S NA NA 11q13.1 Score=951;Name=V$MEIS1_01 NA Name=21 NA rs2232417 0.85 0.85 0.825 0.791733 0.994 0.9177 0.9481 0.4728 0.774 1 0.9 0.95 0.48 0.9359 1 0 D 0.043 B 0.005 B . . 0.393 P . . . . -0.986 T 0.000 T . 1.811 12.02 -9.03 -3.285 -2.551 2.941 1.811223 1.811223 NA 0.996496 0.653415 NA 0.326 NA 10.073604 653 2 113832312 113832312 T C exonic IL1F10 NA nonsynonymous SNV IL1F10:NM_032556:exon3:c.T131C:p.I44T,IL1F10:NM_173161:exon4:c.T131C:p.I44T exonic ENSG00000136697 NA nonsynonymous SNV ENSG00000136697:ENST00000337569:exon3:c.T131C:p.I44T,ENSG00000136697:ENST00000393197:exon3:c.T131C:p.I44T,ENSG00000136697:ENST00000341010:exon4:c.T131C:p.I44T Score=473;Name=lod=112 Name=Protein quantitative trait loci 2q13 NA NA NA NA rs6761276 0.48 0.48 0.465 0.522963 0.6113 0.1796 0.5821 0.5794 0.6677 0.6 0.16 0.57 0.59 0.5642 0.6 0.21 T 0.728 P 0.297 B 0.017 N 0.769 P 1.59 L 2.9 T -0.961 T 0.000 T 0.073 2.618 14.72 3.93 0.887 1.593 7.900 2.618414 2.618414 0.04 0.585349 0.578529 NA 0.493 NA 10.0724844 653 5 159659273 159659273 C T exonic FABP6 NA nonsynonymous SNV FABP6:NM_001445:exon2:c.C236T:p.T79M,FABP6:NM_001040442:exon4:c.C383T:p.T128M,FABP6:NM_001130958:exon5:c.C383T:p.T128M exonic ENSG00000170231 NA nonsynonymous SNV ENSG00000170231:ENST00000402432:exon2:c.C236T:p.T79M,ENSG00000170231:ENST00000393982:exon4:c.C383T:p.T128M,ENSG00000170231:ENST00000393980:exon5:c.C383T:p.T128M Score=503;Name=lod=147 NA 5q33.3 NA NA NA NA rs1130435 0.44 0.44 0.411 0.464856 0.3966 0.494 0.4092 0.4629 0.547 0.39 0.49 0.43 0.45 0.4651 0.49 0.08 T 0.26 B 0.02 B 0.000 D 0.999 P 0.805 L 1.92 T -0.922 T 0.000 T 0.102 1.209 9.909 3.48 0.805 5.108 9.694 1.208885 NA 0.04 0.400349 0.463459 NA 0.457 NA 10.0712844 653 8 87588198 87588198 T C exonic CNGB3 NA nonsynonymous SNV CNGB3:NM_019098:exon18:c.A2264G:p.E755G exonic ENSG00000170289 NA nonsynonymous SNV ENSG00000170289:ENST00000320005:exon18:c.A2264G:p.E755G NA NA 8q21.3 NA NA NA NA rs3735972 0.08 0.08 0.078 0.0822684 0.0885 0.1022 0.085 0.0696 0.0706 0.09 0.08 0.09 0.06 0.0873 0.09 0.3 T 0.187 B 0.08 B 0.336 N 1.000 P 0.345 N -4.28 D -0.387 T 0.105 T 0.035 1.45 10.79 2.97 0.426 1.196 6.471 1.449535 1.449535 0.27 0.086395 0.070359 NA 0.116 NA 10.0711384 653 1 242035382 242035382 C T exonic EXO1 NA nonsynonymous SNV EXO1:NM_003686:exon10:c.C1316T:p.T439M,EXO1:NM_006027:exon10:c.C1316T:p.T439M,EXO1:NM_130398:exon12:c.C1316T:p.T439M exonic ENSG00000174371 NA nonsynonymous SNV ENSG00000174371:ENST00000348581:exon10:c.C1316T:p.T439M,ENSG00000174371:ENST00000518483:exon10:c.C1316T:p.T439M,ENSG00000174371:ENST00000366548:exon12:c.C1316T:p.T439M Score=445;Name=lod=86 NA 1q43 NA NA NA NA rs4149963 0.09 0.09 0.069 0.0854633 0.0855 0.0893 0.2075 0.0076 0.1002 0.09 0.09 0.19 0.02 0.1032 0.19 0.11 T 0.08 B 0.011 B 0.095 N 1.000 P 2.075 M 1.29 T -1.090 T 0.000 T 0.066 1.694 11.62 2.99 0.409 0.423 6.078 1.694362 1.694362 0.09 0.07686 0.019065 ID=COSM146842;OCCURENCE=1(stomach) 0.181 NA 10.0677734 653 8 41906095 41906095 A G exonic KAT6A NA nonsynonymous SNV KAT6A:NM_006766:exon2:c.T401C:p.L134S,KAT6A:NM_001099412:exon3:c.T401C:p.L134S,KAT6A:NM_001099413:exon3:c.T401C:p.L134S exonic ENSG00000083168 NA nonsynonymous SNV ENSG00000083168:ENST00000265713:exon2:c.T401C:p.L134S,ENSG00000083168:ENST00000485568:exon2:c.T401C:p.L134S,ENSG00000083168:ENST00000396930:exon3:c.T401C:p.L134S,ENSG00000083168:ENST00000406337:exon3:c.T401C:p.L134S Score=664;Name=lod=663 NA 8p11.21 NA NA NA NA rs3824276 0.14 0.14 0.133 0.163938 0.0716 0.2331 0.1859 0.0998 0.2587 0.08 0.23 0.15 0.12 0.1216 0.23 0.81 T 0.014 B 0.005 B 0.199 N 0.997 P 0 N 0.27 T -1.121 T 0.000 T 0.147 1.143 9.655 3.39 0.459 2.161 8.028 1.142555 NA 0.45 0.073721 0.101906 NA 0.109 NA 10.0664124 653 3 196199204 196199204 G T exonic RNF168 NA nonsynonymous SNV RNF168:NM_152617:exon6:c.C1202A:p.P401Q exonic ENSG00000163961 NA nonsynonymous SNV ENSG00000163961:ENST00000318037:exon6:c.C1202A:p.P401Q NA NA 3q29 NA NA NA NA rs3796129 0.4 0.4 0.371 0.402356 0.6044 0.1756 0.4798 0.2368 0.5971 0.61 0.19 0.5 0.26 0.5405 0.62 0.09 T 0.8 P 0.216 B 0.139 N 1.000 P 1.95 M 3.18 T -1.041 T 0.000 T 0.079 0.81 8.256 4.29 1.586 2.318 8.591 0.810125 NA 0.1 0.622558 0.311621 NA 0.362 NA 10.0658754 653 1 38188787 38188787 A G exonic EPHA10 NA nonsynonymous SNV EPHA10:NM_001099439:exon10:c.T1886C:p.L629P exonic ENSG00000183317 NA nonsynonymous SNV ENSG00000183317:ENST00000534097:exon4:c.T386C:p.L129P,ENSG00000183317:ENST00000330210:exon6:c.T371C:p.L124P,ENSG00000183317:ENST00000437645:exon6:c.T560C:p.L187P,ENSG00000183317:ENST00000540011:exon6:c.T371C:p.L124P,ENSG00000183317:ENST00000373048:exon10:c.T1886C:p.L629P,ENSG00000183317:ENST00000427468:exon10:c.T1886C:p.L629P Score=500;Name=lod=143 NA 1p34.3 NA NA NA NA rs17511304 0.06 0.06 0.049 0.0447284 0.1083 0.0278 0.0447 0.0174 0.0337 0.1 0.02 0.05 0.03 0.066 0.1 1 T 0.0 B 0.0 B 0.004 N 0.000 P -2.38 N 5.12 T -0.993 T 0.000 T 0.356 -1.528 0.016 4.36 0.852 4.431 11.505 -1.528182 NA 1 0.093245 0.031508 NA 0.109 NA 10.0657884 653 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,CTCF_(SC-5916) 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 654 20 61491494 61491494 T C exonic TCFL5 NA nonsynonymous SNV TCFL5:NM_006602:exon2:c.A814G:p.N272D exonic ENSG00000101190 NA nonsynonymous SNV ENSG00000101190:ENST00000217162:exon2:c.A670G:p.N224D,ENSG00000101190:ENST00000335351:exon2:c.A814G:p.N272D NA Name=Obesity-related traits 20q13.33 NA NA NA NA rs17854409 0.14 0.14 0.141 0.133986 0.0924 0.1538 0.0821 0.2216 0.0746 0.09 0.14 0.08 0.25 0.0931 0.25 0.08 T 0.435 B 0.088 B 0.046 N 1.000 P 0.895 L 1.36 T -1.011 T 0.000 T 0.058 3.075 16.27 3.61 0.654 2.478 8.656 3.07547 3.07547 0.06 0.08407 0.199274 NA 0.152 NA 10.0637634 654 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 654 1 110998854 110998854 G A exonic PROK1 NA nonsynonymous SNV PROK1:NM_032414:exon3:c.G199A:p.V67I exonic ENSG00000143125 NA nonsynonymous SNV ENSG00000143125:ENST00000271331:exon3:c.G199A:p.V67I Score=516;Name=lod=166 NA 1p13.3 NA NA NA NA rs7514102 0.47 0.47 0.454 0.441094 0.4165 0.5754 0.5677 0.3654 0.3405 0.43 0.58 0.51 0.36 0.4362 0.58 . . 0.003 B 0.009 B 0.688 N 0.418 P 1.38 L -2.1 D -1.067 T 0.243 T 0.04 0.776 8.099 -7.86 -1.804 0.747 11.213 0.776329 NA 0.45 0.419535 0.377894 ID=COSM146578;OCCURENCE=1(stomach) 0.406 NA 10.0610984 654 1 20246876 20246876 C T exonic PLA2G2E NA nonsynonymous SNV PLA2G2E:NM_014589:exon4:c.G353A:p.R118H exonic ENSG00000188784 NA nonsynonymous SNV ENSG00000188784:ENST00000375116:exon4:c.G353A:p.R118H NA NA 1p36.13 NA NA NA NA rs61729970 0.1 0.1 0.092 0.0936502 0.0885 0.1548 0.0432 0.087 0.0808 0.1 0.15 0.05 0.1 0.0936 0.15 0.1 T 0.003 B 0.014 B 0.224 N 1.000 P 1.205 L 1.64 T -1.058 T 0.000 T 0.025 1.855 12.16 -7.18 -1.365 -1.055 16.572 1.855147 1.855147 0.15 0.091279 0.083522 NA 0.065 NA 10.0599544 654 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 654 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 654 4 78987157 78987157 A G exonic FRAS1 NA nonsynonymous SNV FRAS1:NM_001166133:exon2:c.A95G:p.D32G,FRAS1:NM_025074:exon2:c.A95G:p.D32G exonic ENSG00000138759 NA nonsynonymous SNV ENSG00000138759:ENST00000264895:exon2:c.A95G:p.D32G,ENSG00000138759:ENST00000264899:exon2:c.A95G:p.D32G,ENSG00000138759:ENST00000325942:exon2:c.A95G:p.D32G,ENSG00000138759:ENST00000508909:exon2:c.A95G:p.D32G Score=498;Name=lod=141 NA 4q21.21 NA NA NA NA rs4859905 0.52 0.52 0.527 0.551518 0.4195 0.5407 0.4654 0.7519 0.4888 0.4 0.53 0.48 0.72 0.4563 0.72 1 T 0.0 B 0.0 B 0.001 N 0.998 P . . 0.45 T -0.980 T 0.000 T 0.137 0.256 5.385 5.9 1.517 2.691 12.549 0.256325 NA 1 0.400707 0.678207 NA 0.609 NA 10.0568264 654 6 152647681 152647681 A T exonic SYNE1 NA nonsynonymous SNV SYNE1:NM_033071:exon78:c.T14830A:p.L4944M,SYNE1:NM_182961:exon79:c.T15043A:p.L5015M exonic ENSG00000131018 NA nonsynonymous SNV ENSG00000131018:ENST00000423061:exon78:c.T14830A:p.L4944M,ENSG00000131018:ENST00000265368:exon79:c.T15043A:p.L5015M,ENSG00000131018:ENST00000367255:exon79:c.T15043A:p.L5015M,ENSG00000131018:ENST00000448038:exon79:c.T14830A:p.L4944M,ENSG00000131018:ENST00000341594:exon82:c.T14284A:p.L4762M Score=540;Name=lod=208 NA 6q25.2 Score=700;Name=V$BRACH_01 NA NA NA rs2306916 0.83 0.83 0.842 0.814696 0.7475 0.8492 0.8444 0.9546 0.638 0.77 0.84 0.8 0.94 0.7797 0.94 0.35 T 0.015 B 0.02 B 0.009 N 0.000 P -0.695 N 1.24 T -0.977 T 0.012 T 0.073 2.016 12.7 3.2 0.439 2.934 6.207 2.015841 2.015841 0.12 0.749419 0.929641 NA 0.819 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118448.2;CLNDSDB=.;CLNDSDBID=. 10.0567144 654 18 23866185 23866185 G C exonic TAF4B NA nonsynonymous SNV TAF4B:NM_005640:exon7:c.G1312C:p.V438L exonic ENSG00000141384 NA nonsynonymous SNV ENSG00000141384:ENST00000269142:exon7:c.G1312C:p.V438L,ENSG00000141384:ENST00000400466:exon7:c.G1312C:p.V438L,ENSG00000141384:ENST00000418698:exon7:c.G1312C:p.V438L,ENSG00000141384:ENST00000578121:exon7:c.G1312C:p.V438L NA NA 18q11.2 NA Name=TCF12 Name=11 NA rs74947492 0.05 0.05 0.044 0.0445288 0.0954 0.0089 0.0663 0.0151 0.0532 0.09 0.01 0.09 0.02 0.0789 0.1 0.47 T 0.278 B 0.057 B 0.006 N 1.000 P 0.145 N 1.91 T -1.020 T 0.001 T 0.16 1.371 10.51 2.91 0.753 0.138 4.449 1.371004 1.371004 0 0.103751 0.033214 NA 0.007 NA 10.0552824 655 17 66449122 66449122 G A exonic WIPI1 NA nonsynonymous SNV WIPI1:NM_017983:exon2:c.C92T:p.T31I exonic ENSG00000070540 NA nonsynonymous SNV ENSG00000070540:ENST00000262139:exon2:c.C92T:p.T31I,ENSG00000070540:ENST00000589316:exon2:c.C92T:p.T31I Score=444;Name=lod=85 NA 17q24.2 Score=762;Name=V$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 655 9 34311020 34311020 T C exonic KIF24 NA nonsynonymous SNV KIF24:NM_194313:exon2:c.A325G:p.R109G exonic ENSG00000186638 NA nonsynonymous SNV ENSG00000186638:ENST00000379174:exon1:c.A325G:p.R109G,ENSG00000186638:ENST00000402558:exon1:c.A325G:p.R109G,ENSG00000186638:ENST00000345050:exon2:c.A325G:p.R109G,ENSG00000186638:ENST00000379166:exon2:c.A325G:p.R109G NA NA 9p13.3 NA NA NA NA rs41274845 0.06 0.06 0.048 0.0589058 0.1014 0.0337 0.0562 0.0015 0.1207 0.1 0.04 0.07 0.0041 0.0831 0.1 0.39 T 0.0 B 0.001 B 0.201 N 1.000 P 1.24 L -0.32 T -1.082 T 0.006 T 0.06 -1.779 0.01 2.95 2.026 1.582 2.783 -1.779153 NA 0.26 0.09574 0.019852 NA 0.029 NA 10.0530934 655 6 33036971 33036971 C T exonic HLA-DPA1 NA synonymous SNV HLA-DPA1:NM_033554:exon3:c.G453A:p.T151T,HLA-DPA1:NM_001242524:exon4:c.G453A:p.T151T,HLA-DPA1:NM_001242525:exon4:c.G453A:p.T151T exonic ENSG00000231389 NA synonymous SNV ENSG00000231389:ENST00000428995:exon3:c.G453A:p.T151T,ENSG00000231389:ENST00000419277:exon4:c.G453A:p.T151T,ENSG00000231389:ENST00000453337:exon4:c.G453A:p.T151T Score=397;Name=lod=55 NA 6p21.32 Score=787;Name=V$MIF1_01 Name=Pol2-4H8 NA NA rs2308928 0.4 0.4 0.37 0.438898 0.1889 0.6796 0.2839 0.5802 0.3671 0.17 0.65 0.25 0.56 0.2476 0.65 . . . . . . . . 0.000 P . . . . -0.978 T 0.016 T . 1.062 9.336 -1.99 -0.669 -5.615 0.258 1.061867 NA NA 0.177253 0.471504 NA 0.37 NA 10.0529136 655 8 27358505 27358505 A G exonic EPHX2 NA nonsynonymous SNV EPHX2:NM_001256482:exon2:c.A5G:p.K2R,EPHX2:NM_001256484:exon2:c.A5G:p.K2R,EPHX2:NM_001979:exon2:c.A164G:p.K55R exonic ENSG00000120915 NA nonsynonymous SNV ENSG00000120915:ENST00000380476:exon2:c.A5G:p.K2R,ENSG00000120915:ENST00000517536:exon2:c.A164G:p.K55R,ENSG00000120915:ENST00000518379:exon2:c.A164G:p.K55R,ENSG00000120915:ENST00000521400:exon2:c.A164G:p.K55R,ENSG00000120915:ENST00000518328:exon3:c.A164G:p.K55R NA NA 8p21.2 NA NA NA NA rs41507953 0.1 0.1 0.101 0.100639 0.0865 0.001 0.0836 0.2201 0.0685 0.09 0.0017 0.08 0.25 0.0901 0.25 1 T 0.0 B 0.005 B 0.278 N 1.000 P -0.75 N 3.02 T -1.034 T 0.000 T 0.136 -1.207 0.069 -5.81 -1.722 -1.570 7.534 -1.20666 NA 0.72 0.10407 0.217658 NA 0.152 NA 10.0526634 655 6 29364835 29364835 T G exonic OR12D2 NA nonsynonymous SNV OR12D2:NM_013936:exon1:c.T359G:p.L120R exonic ENSG00000168787 NA nonsynonymous SNV ENSG00000168787:ENST00000383555:exon1:c.T359G:p.L120R Score=499;Name=lod=142 NA 6p22.1 Score=844;Name=V$HNF4_01_B NA NA NA rs2073153 0.36 0.36 0.312 0.31889 0.4523 0.3641 0.3458 0.1921 0.2873 0.47 0.36 0.34 0.21 0.3847 0.47 1 T 0.0 B 0.0 B 0.003 N 0.000 P -4.03 N 3.55 T -0.980 T 0.000 T 0.047 -1.637 0.013 3.05 0.329 4.857 9.955 -1.637038 NA 1 0.444629 0.221377 NA 0.297 NA 10.0517044 655 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 655 6 33036959 33036959 G A exonic HLA-DPA1 NA synonymous SNV HLA-DPA1:NM_033554:exon3:c.C465T:p.N155N,HLA-DPA1:NM_001242524:exon4:c.C465T:p.N155N,HLA-DPA1:NM_001242525:exon4:c.C465T:p.N155N exonic ENSG00000231389 NA synonymous SNV ENSG00000231389:ENST00000428995:exon3:c.C465T:p.N155N,ENSG00000231389:ENST00000419277:exon4:c.C465T:p.N155N,ENSG00000231389:ENST00000453337:exon4:c.C465T:p.N155N NA NA 6p21.32 Score=861;Name=V$E47_01 Name=Pol2-4H8 NA NA rs2308929 0.4 0.4 0.36 0.439097 0.1899 0.6796 0.2839 0.5802 0.3671 0.17 0.65 0.25 0.56 0.2477 0.65 . . . . . . . . 0.000 P . . . . -1.046 T 0.047 T . -0.141 3.309 -6.81 -1.606 0.053 11.657 -0.141181 NA NA 0.177622 0.470199 NA 0.37 NA 10.0514446 655 X 100532621 100532621 T C exonic TAF7L NA nonsynonymous SNV TAF7L:NM_001168474:exon9:c.A664G:p.S222G,TAF7L:NM_024885:exon9:c.A922G:p.S308G exonic ENSG00000102387 NA nonsynonymous SNV ENSG00000102387:ENST00000324762:exon8:c.A664G:p.S222G,ENSG00000102387:ENST00000356784:exon9:c.A664G:p.S222G,ENSG00000102387:ENST00000372905:exon9:c.A664G:p.S222G,ENSG00000102387:ENST00000372907:exon9:c.A922G:p.S308G NA NA Xq22.1 NA NA NA NA rs35899692 0.2 0.2 0.2194 NA NA NA NA NA NA 0.13 0.28 0.15 0.25 0.1482 0.28 1 T 0.001 B 0.0 B 0.362 N 1.000 P -0.515 N 3.68 T -1.016 T 0.000 T 0.017 -0.757 0.796 3.35 1.041 2.394 11.198 -0.757255 NA 1 0.135553 0.245111 NA 0.181 NA 10.0495804 655 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 655 17 40696233 40696233 C G exonic NAGLU NA nonsynonymous SNV NAGLU:NM_000263:exon6:c.C2209G:p.R737G exonic ENSG00000108784 NA nonsynonymous SNV ENSG00000108784:ENST00000225927:exon6:c.C2209G:p.R737G Score=481;Name=lod=120 NA 17q21.2 NA NA NA NA rs86312 0.88 0.88 0.851 0.859225 0.9344 0.999 0.9308 0.5991 0.9387 0.95 1 0.91 0.63 0.9055 1 0.21 T 0.678 P 0.128 B 0.597 N 0.994 P 0.695 N -5.4 D -0.902 T 0.000 T 0.123 1.442 10.76 4.01 2.524 0.878 9.337 1.441971 1.441971 0.1 0.944651 0.661825 NA 0.848 CLINSIG=non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=single,single;CLNACC=RCV000078456.1,RCV000078457.1;CLNDSDB=.,.;CLNDSDBID=.,. 10.0487824 655 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 655 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(b),Pol2 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 655 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 655 10 6498723 6498723 G A exonic PRKCQ NA synonymous SNV PRKCQ:NM_001242413:exon15:c.C1560T:p.I520I,PRKCQ:NM_006257:exon15:c.C1560T:p.I520I exonic ENSG00000065675 NA synonymous SNV ENSG00000065675:ENST00000539722:exon14:c.C1185T:p.I395I,ENSG00000065675:ENST00000263125:exon15:c.C1560T:p.I520I,ENSG00000065675:ENST00000397176:exon15:c.C1560T:p.I520I NA NA 10p15.1 Score=816;Name=V$EVI1_04 NA NA NA rs11258943 0.14 0.14 0.144 0.141374 0.2187 0.0645 0.1153 0.1551 0.1411 0.22 0.05 0.13 0.14 0.1834 0.22 . . . . . . . . 0.000 P . . . . -1.062 T 0.000 T . -1.353 0.028 -9.67 -2.746 -1.264 12.514 -1.352505 NA NA 0.217326 0.159101 NA 0.196 NA 10.0472406 655 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 656 6 31129616 31129616 A G exonic TCF19 NA nonsynonymous SNV TCF19:NM_001077511:exon3:c.A631G:p.M211V,TCF19:NM_007109:exon3:c.A631G:p.M211V exonic ENSG00000137310 NA nonsynonymous SNV ENSG00000137310:ENST00000542218:exon1:c.A391G:p.M131V,ENSG00000137310:ENST00000376255:exon3:c.A631G:p.M211V,ENSG00000137310:ENST00000376257:exon3:c.A631G:p.M211V NA NA 6p21.33 NA Name=Pol2 Name=4 NA rs2073721 0.77 0.77 0.744 0.769169 0.7843 0.6756 0.8141 0.8699 0.682 0.78 0.63 0.83 0.87 0.7522 0.87 1 T 0.0 B 0.0 B 0.510 N 1.000 P -1.935 N 2.17 T -0.940 T 0.004 T 0.003 -2.488 0.003 4.47 1.268 1.114 7.513 -2.487809 NA 1 0.75681 0.862846 NA 0.775 NA 10.0400234 656 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 656 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 656 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$MEIS1_01 NA NA NA rs6810039 0.63 0.63 0.614 0.659944 0.3936 0.8542 0.6441 0.7307 0.6493 0.41 0.89 0.57 0.74 0.5157 0.89 0.77 T 0.0 B 0.0 B 0.002 N 1.000 P -2.015 N 3.36 T -0.952 T 0.000 T 0.024 -0.407 2.099 -9.81 -2.418 -0.950 8.356 -0.406519 NA 1 0.386788 0.692878 NA 0.58 NA 10.0372454 657 7 11581121 11581121 T C exonic THSD7A NA nonsynonymous SNV THSD7A:NM_015204:exon6:c.A1747G:p.N583D exonic ENSG00000005108 NA nonsynonymous SNV ENSG00000005108:ENST00000423059:exon6:c.A1747G:p.N583D Score=636;Name=lod=512 NA 7p21.3 Score=728;Name=V$PPARG_02 NA NA NA rs47 0.83 0.83 0.838 0.829273 0.7674 0.7649 0.8703 0.9864 0.7178 0.76 0.76 0.86 0.98 0.771 0.98 0.63 T 0.0 B 0.0 B 0.000 N 1.000 P -1.24 N 0.39 T -0.965 T 0.000 T 0.024 1.976 12.56 4.7 1.521 1.496 11.461 1.975602 1.975602 0.62 0.760692 0.952655 NA 0.935 NA 10.0342414 657 3 42599091 42599091 G A exonic SEC22C NA synonymous SNV SEC22C:NM_001201572:exon5:c.C624T:p.H208H,SEC22C:NM_001201584:exon5:c.C624T:p.H208H,SEC22C:NM_004206:exon5:c.C624T:p.H208H,SEC22C:NM_032970:exon5:c.C624T:p.H208H exonic ENSG00000093183 NA synonymous SNV ENSG00000093183:ENST00000264454:exon5:c.C624T:p.H208H,ENSG00000093183:ENST00000273156:exon5:c.C624T:p.H208H,ENSG00000093183:ENST00000417572:exon5:c.C624T:p.H208H,ENSG00000093183:ENST00000423701:exon5:c.C624T:p.H208H,ENSG00000093183:ENST00000456515:exon5:c.C624T:p.H208H,ENSG00000093183:ENST00000536332:exon6:c.C414T:p.H138H Score=554;Name=lod=237 NA 3p22.1 NA NA NA NA rs2271184 0.32 0.32 0.323 0.335863 0.1968 0.4712 0.2248 0.4546 0.2577 0.2 0.44 0.22 0.44 0.2346 0.44 . . . . . . . . 0.000 P . . . . -0.909 T 0.000 T . 0.943 8.845 4.32 2.537 2.365 12.808 0.943232 NA NA 0.20186 0.388561 NA 0.326 NA 10.0334066 657 19 45655333 45655333 T C exonic NKPD1 NA nonsynonymous SNV NKPD1:NM_198478:exon4:c.A2362G:p.R788G exonic ENSG00000179846 NA nonsynonymous SNV ENSG00000179846:ENST00000589776:exon1:c.A1696G:p.R566G,ENSG00000179846:ENST00000429338:exon2:c.A1459G:p.R487G,ENSG00000179846:ENST00000438936:exon3:c.A1696G:p.R566G,ENSG00000179846:ENST00000317951:exon4:c.A2362G:p.R788G NA NA 19q13.32 NA Name=CTCF,CTCF_(SC-5916) NA NA rs28469095 0.09 0.09 0.082 0.0826677 0.1074 0.0575 0.0908 0.0514 0.1196 0.11 0.07 0.11 0.06 0.1185 0.11 0.66 T 0.0 B 0.0 B 0.002 N 1.000 P -1.245 N 0.95 T -1.083 T 0.001 T 0.019 1.998 12.64 -7.79 -0.932 -2.109 3.547 1.998149 1.998149 0 0.074547 0.039339 ID=COSM439782,COSM1481216;OCCURENCE=1(breast) 0.036 NA 10.0328864 657 6 130152520 130152520 A C exonic TMEM244 NA nonsynonymous SNV TMEM244:NM_001010876:exon5:c.T331G:p.F111V exonic ENSG00000203756 NA nonsynonymous SNV ENSG00000203756:ENST00000368143:exon5:c.T331G:p.F111V,ENSG00000203756:ENST00000438392:exon6:c.T331G:p.F111V Score=378;Name=lod=46 NA 6q22.33 NA NA NA NA rs7776426 0.28 0.28 0.283 0.242612 0.4583 0.1359 0.245 0.1823 0.2106 0.45 0.13 0.27 0.19 0.3674 0.48 0.06 T 0.886 P 0.55 P 0.000 U 0.413 P 1.735 L 1.35 T -1.079 T 0.059 T 0.39 3.235 16.85 3.31 0.664 2.021 9.711 3.235466 3.235466 0.11 0.476279 0.250908 NA 0.384 NA 10.0313544 657 10 46999863 46999863 C G exonic GPRIN2 NA nonsynonymous SNV GPRIN2:NM_014696:exon3:c.C983G:p.S328C exonic ENSG00000204175 NA nonsynonymous SNV ENSG00000204175:ENST00000374314:exon1:c.C983G:p.S328C,ENSG00000204175:ENST00000374317:exon3:c.C983G:p.S328C NA NA 10q11.22 NA NA NA NA rs4445576 0.18 0.18 0.113 0.164736 0.3042 0.004 0.3285 0.1021 0.1554 0.3 NA 0.28 0.11 0.262 0.3 0.06 T 0.995 D 0.785 P 0.242 N 1.000 N 1.61 L 3.77 T -0.908 T 0.000 T 0.088 1.554 11.15 3.15 1.788 . 12.133 1.553761 1.553761 0.03 0.236047 0.1069 ID=COSM427581;OCCURENCE=3(breast) 0.036 NA 10.0310864 657 4 113345147 113345147 A G exonic ALPK1 NA nonsynonymous SNV ALPK1:NM_001253884:exon5:c.A289G:p.N97D,ALPK1:NM_001102406:exon6:c.A523G:p.N175D,ALPK1:NM_025144:exon6:c.A523G:p.N175D exonic ENSG00000073331 NA nonsynonymous SNV ENSG00000073331:ENST00000504176:exon5:c.A289G:p.N97D,ENSG00000073331:ENST00000509722:exon5:c.A368G:p.Q123R,ENSG00000073331:ENST00000177648:exon6:c.A523G:p.N175D,ENSG00000073331:ENST00000458497:exon6:c.A523G:p.N175D,ENSG00000073331:ENST00000505127:exon6:c.A523G:p.N175D Score=466;Name=lod=104 NA 4q25 NA NA NA NA rs6533616 0.07 0.07 0.074 0.0507188 0.1163 0.002 0.0677 0.053 0.0184 0.12 0.0035 0.08 0.06 0.0769 0.12 0.17 T 0.007 B 0.009 B 0.009 N 0.983 P 0.975 L 1.55 T -1.071 T 0.001 T 0.163 1.821 12.05 3.16 0.414 1.242 5.558 1.821169 1.821169 0.25 0.111628 0.07399 NA 0.036 NA 10.0285054 657 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 658 6 30920124 30920124 G A exonic DPCR1 NA nonsynonymous SNV DPCR1:NM_080870:exon2:c.G3883A:p.E1295K exonic ENSG00000168631 NA nonsynonymous SNV ENSG00000168631:ENST00000304311:exon2:c.G409A:p.E137K,ENSG00000168631:ENST00000462446:exon2:c.G3883A:p.E1295K NA NA 6p21.33 NA NA NA NA rs3132580 0.06 0.06 0.072 0.0383387 0.0964 0.0159 0.0288 0.0378 0.0092 0.1 0.02 0.03 0.06 0.0803 0.13 0.7 T 0.032 B 0.009 B . . 1.000 P -0.205 N 1.97 T -0.974 T 0.005 T 0.042 0.613 7.3 -7.22 -2.176 -0.956 3.183 0.61278 NA 0 0.131977 0.069905 NA 0.138 NA 10.0246564 658 22 46655779 46655779 G C exonic PKDREJ NA nonsynonymous SNV PKDREJ:NM_006071:exon1:c.C3441G:p.I1147M exonic ENSG00000130943 NA nonsynonymous SNV ENSG00000130943:ENST00000253255:exon1:c.C3441G:p.I1147M NA NA 22q13.31 NA NA NA NA rs36125344 0.08 0.08 0.078 0.0636981 0.1233 0.001 0.0663 0.0802 0.0429 0.13 NA 0.09 0.07 0.0808 0.13 0.25 T 0.022 B 0.002 B 0.000 N 1.000 P 1.1 L 1.23 T -1.097 T 0.001 T 0.038 -0.13 3.363 -8.75 -3.170 -3.473 2.800 -0.130048 NA 0.12 0.105233 0.076487 NA 0.036 NA 10.0240004 658 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 658 21 15558346 15558346 G A exonic LIPI NA synonymous SNV LIPI:NM_198996:exon3:c.C540T:p.S180S exonic ENSG00000188992 NA synonymous SNV ENSG00000188992:ENST00000344577:exon3:c.C540T:p.S180S,ENSG00000188992:ENST00000536861:exon3:c.C477T:p.S159S Score=508;Name=lod=155 NA 21q11.2 Score=831;Name=V$ARP1_01 NA NA NA rs397517 0.17 0.17 0.186 0.178315 0.2177 0.2669 0.1138 0.0484 0.2679 0.23 0.25 0.11 0.04 0.2028 0.25 . . . . . . . . 0.000 P . . . . -1.032 T 0.000 T . 0.93 8.789 2.07 0.762 0.986 6.233 0.93014 NA NA 0.22407 0.074898 NA 0.116 NA 10.0220966 658 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 658 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 658 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 658 5 162911075 162911075 C A exonic HMMR NA nonsynonymous SNV HMMR:NM_001142557:exon13:c.C1525A:p.L509I,HMMR:NM_012485:exon15:c.C1738A:p.L580I,HMMR:NM_001142556:exon16:c.C1786A:p.L596I,HMMR:NM_012484:exon16:c.C1783A:p.L595I exonic ENSG00000072571 NA nonsynonymous SNV ENSG00000072571:ENST00000432118:exon13:c.C1525A:p.L509I,ENSG00000072571:ENST00000353866:exon15:c.C1738A:p.L580I,ENSG00000072571:ENST00000358715:exon16:c.C1783A:p.L595I,ENSG00000072571:ENST00000393915:exon16:c.C1786A:p.L596I,ENSG00000072571:ENST00000416990:exon16:c.C1441A:p.L481I Score=600;Name=lod=366 NA 5q34 NA NA NA NA rs2230363 0.05 0.05 0.04 0.0347444 0.0964 NA 0.0476 0.0061 0.0368 0.1 NA 0.06 0.01 0.0945 0.13 . . 0.452 B 0.073 B 0.146 N 0.834 N 1.39 L 1.99 T -1.075 T 0.000 T 0.07 1.917 12.37 2.56 0.298 1.086 10.511 1.916613 1.916613 0.08 0.12564 0.023733 NA 0.007 NA 10.0167934 658 4 2306259 2306259 C T exonic ZFYVE28 NA nonsynonymous SNV ZFYVE28:NM_001172656:exon7:c.G1718A:p.S573N,ZFYVE28:NM_001172659:exon8:c.G1598A:p.S533N,ZFYVE28:NM_020972:exon8:c.G1808A:p.S603N exonic ENSG00000159733 NA nonsynonymous SNV ENSG00000159733:ENST00000511071:exon7:c.G1718A:p.S573N,ENSG00000159733:ENST00000290974:exon8:c.G1808A:p.S603N,ENSG00000159733:ENST00000515312:exon8:c.G1598A:p.S533N NA NA 4p16.3 NA NA NA NA rs17768776 0.07 0.07 0.061 0.0782748 0.1153 NA 0.1023 0.0719 0.1125 0.11 NA 0.1 0.08 0.0935 0.11 0.52 T 0.231 B 0.082 B 0.132 N 1.000 P 0 N 0.33 T -1.031 T 0.002 T 0.023 2.533 14.43 3.3 2.206 1.058 3.866 2.532849 2.532849 0.53 0.108048 0.074251 NA 0.13 NA 10.0164854 659 12 51707626 51707626 C T exonic BIN2 NA nonsynonymous SNV BIN2:NM_016293:exon2:c.G143A:p.S48N exonic ENSG00000110934 NA nonsynonymous SNV ENSG00000110934:ENST00000267012:exon2:c.G143A:p.S48N,ENSG00000110934:ENST00000452142:exon2:c.G143A:p.S48N,ENSG00000110934:ENST00000544402:exon2:c.G65A:p.S22N,ENSG00000110934:ENST00000605423:exon2:c.G143A:p.S48N Score=531;Name=lod=192 NA 12q13.13 NA NA NA NA rs7312857 0.17 0.17 0.167 0.14976 0.0984 0.246 0.1037 0.2156 0.047 0.1 0.25 0.12 0.21 0.113 0.25 0.26 T 0.0 B 0.001 B 0.566 N 1.000 P -0.805 N 0.34 T -1.008 T 0.000 T 0.058 1.347 10.43 -4.57 -1.464 0.125 13.890 1.347245 1.347245 0.22 0.107209 0.184294 NA 0.101 NA 10.0147244 659 11 20623042 20623042 T C exonic SLC6A5 NA nonsynonymous SNV SLC6A5:NM_004211:exon2:c.T371C:p.F124S exonic ENSG00000165970 NA nonsynonymous SNV ENSG00000165970:ENST00000298923:exon2:c.T371C:p.F124S,ENSG00000165970:ENST00000525748:exon2:c.T371C:p.F124S Score=383;Name=lod=48 NA 11p15.1 NA Name=Rad21 Name=4 NA rs1443548 0.79 0.79 0.766 0.793131 0.7863 0.75 0.745 0.8707 0.774 0.79 0.78 0.75 0.83 0.7789 0.87 0.26 T 0.0 B 0.0 B 0.615 N 1.000 P 0 N -0.48 T -0.983 T 0.000 T 0.066 0.411 6.233 2.8 0.078 3.062 7.112 0.411159 NA 0.34 0.754651 0.873808 ID=COSM428827;OCCURENCE=1(breast) 0.746 NA 10.0134824 659 17 70118935 70118935 C T exonic SOX9 NA synonymous SNV SOX9:NM_000346:exon2:c.C507T:p.H169H exonic ENSG00000125398 NA synonymous SNV ENSG00000125398:ENST00000245479:exon2:c.C507T:p.H169H Score=691;Name=lod=858 NA 17q24.3 Score=992;Name=V$ZIC1_01 Name=TAF1 Name=84 NA rs2229989 0.12 0.12 0.126 0.136581 0.2465 0.0139 0.1254 0.0416 0.2863 0.26 0.02 0.12 0.03 0.1933 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.185431 NA NA 0.215581 0.070132 ID=COSM437264;OCCURENCE=1(breast) 0.159 CLINSIG=non-pathogenic;CLNDBN=Camptomelic_dysplasia;CLNREVSTAT=single;CLNACC=RCV000020284.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1760:C1861922:114290:ORPHA140:74928006 10.0112856 659 7 143701516 143701516 C T exonic OR6B1 NA nonsynonymous SNV OR6B1:NM_001005281:exon1:c.C427T:p.R143C exonic ENSG00000221813 NA nonsynonymous SNV ENSG00000221813:ENST00000408922:exon1:c.C427T:p.R143C NA NA 7q35 NA NA NA NA rs7787378 0.16 0.16 0.138 0.16234 0.0885 0.2411 0.3674 0.0764 0.1278 0.09 0.25 0.31 0.08 0.1407 0.31 0.22 T 0.002 B 0.022 B 0.171 U 0.986 P 0.855 L 8.7 T -0.877 T 0.000 T 0.114 0.844 8.409 5.26 2.739 1.965 14.255 0.843804 NA 0.21 0.092947 0.070662 NA 0.138 NA 10.0111864 659 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$TAL1ALPHAE47_01 NA NA NA rs2250736 0.66 0.66 0.684 0.70647 0.5298 0.6548 0.6081 0.9304 0.7086 0.52 0.66 0.58 0.91 0.5945 0.91 . . . . . . . . 0.000 P . . . . -1.106 T 0.000 T . -0.494 1.733 -7.67 -1.886 -1.895 16.490 -0.493554 NA NA 0.533488 0.86995 NA 0.768 NA 10.0088786 659 16 624114 624114 A G exonic PIGQ NA nonsynonymous SNV PIGQ:NM_004204:exon2:c.A40G:p.T14A,PIGQ:NM_148920:exon2:c.A40G:p.T14A exonic ENSG00000007541 NA nonsynonymous SNV ENSG00000007541:ENST00000026218:exon2:c.A40G:p.T14A,ENSG00000007541:ENST00000321878:exon2:c.A40G:p.T14A,ENSG00000007541:ENST00000409439:exon2:c.A40G:p.T14A,ENSG00000007541:ENST00000422307:exon2:c.A40G:p.T14A,ENSG00000007541:ENST00000443147:exon2:c.A82G:p.T28A,ENSG00000007541:ENST00000470411:exon2:c.A40G:p.T14A,ENSG00000007541:ENST00000293874:exon3:c.A40G:p.T14A,ENSG00000007541:ENST00000409527:exon3:c.A40G:p.T14A,ENSG00000007541:ENST00000439574:exon3:c.A40G:p.T14A NA NA 16p13.3 Score=770;Name=V$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 659 9 140008750 140008750 G C exonic DPP7 NA nonsynonymous SNV DPP7:NM_013379:exon3:c.C266G:p.A89G exonic ENSG00000176978 NA nonsynonymous SNV ENSG00000176978:ENST00000371579:exon3:c.C266G:p.A89G,ENSG00000176978:ENST00000497375:exon3:c.C257G:p.A86G Score=399;Name=lod=56 NA 9q34.3 NA Name=ZBTB7A_(SC-34508),E2F6_(H-50) NA NA rs10747049 0.8 0.8 0.96 0.816893 0.7545 0.7302 0.7522 0.9864 0.7873 0.75 0.71 0.78 0.98 0.7815 0.98 1 T 0.0 B 0.0 B 0.001 N 1.000 P -3 N 2.88 T -0.991 T 0.000 T 0.077 -0.52 1.627 3.36 1.048 1.590 4.711 -0.52004 NA 1 0.78966 0.951956 NA NA NA 10.0076734 659 15 63414083 63414083 A C exonic LACTB NA nonsynonymous SNV LACTB:NM_032857:exon1:c.A13C:p.M5L,LACTB:NM_171846:exon1:c.A13C:p.M5L exonic ENSG00000103642 NA nonsynonymous SNV ENSG00000103642:ENST00000261893:exon1:c.A13C:p.M5L,ENSG00000103642:ENST00000413507:exon1:c.A13C:p.M5L Score=343;Name=lod=33 NA 15q22.2 Score=802;Name=V$PAX2_01 Name=Pol2,HEY1,Pol2-4H8,TAF1,ZEB1_(SC-25388),Sin3Ak-20,YY1_(C-20),GR,ZBTB7A_(SC-34508),YY1 Name=148 NA rs34317102 0.78 0.78 0.764 0.794928 0.7316 0.997 0.8256 0.6725 0.7955 0.73 0.99 0.79 0.62 0.8074 0.99 1 T 0.0 B 0.0 B 0.301 N 1.000 P -0.55 N 1.42 T -0.969 T 0.000 T 0.037 -0.801 0.674 3.1 0.640 0.346 7.626 -0.800779 NA 1 0.787154 0.743472 NA NA NA 10.0071794 659 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 660 5 112176756 112176756 T A exonic APC NA nonsynonymous SNV APC:NM_001127511:exon14:c.T5411A:p.V1804D,APC:NM_000038:exon16:c.T5465A:p.V1822D,APC:NM_001127510:exon17:c.T5465A:p.V1822D exonic ENSG00000134982 NA nonsynonymous SNV ENSG00000134982:ENST00000257430:exon16:c.T5465A:p.V1822D,ENSG00000134982:ENST00000457016:exon16:c.T5465A:p.V1822D,ENSG00000134982:ENST00000508376:exon17:c.T5465A:p.V1822D Score=541;Name=lod=211 NA 5q22.2 NA NA NA NA rs459552 0.86 0.86 0.877 0.865415 0.7654 0.9008 0.8184 0.9909 0.7955 0.77 0.9 0.82 0.99 0.7981 0.99 . . 0.0 B 0.0 B 0.000 N 0.981 P -0.895 N -2.3 D -0.947 T 0.000 T 0.147 -1.207 0.069 3.59 0.139 3.653 9.399 -1.206578 NA 0.43 0.765 0.945934 NA 0.87 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|other|non-pathogenic;CLNDBN=Adenomatous_polyposis_coli|not_provided|not_specified|Familial_colorectal_cancer|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=single|single|mult|single|single;CLNACC=RCV000020089.1|RCV000034393.1|RCV000035078.3|RCV000074239.1|RCV000132160.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.|.|MedGen:OMIM|MedGen;CLNDSDBID=NBK1345:CN074282:175100:ORPHA733:70921007|.|.|CN029768:114500|C0027672 10.0048334 660 17 3775848 3775848 T C exonic CAMKK1 NA nonsynonymous SNV CAMKK1:NM_032294:exon12:c.A1124G:p.E375G,CAMKK1:NM_172206:exon12:c.A1124G:p.E375G,CAMKK1:NM_172207:exon13:c.A1238G:p.E413G exonic ENSG00000004660 NA nonsynonymous SNV ENSG00000004660:ENST00000348335:exon12:c.A1124G:p.E375G,ENSG00000004660:ENST00000381769:exon12:c.A1205G:p.E402G,ENSG00000004660:ENST00000158166:exon13:c.A1238G:p.E413G,ENSG00000004660:ENST00000381771:exon13:c.A1238G:p.E413G Score=401;Name=lod=57 NA 17p13.2 NA NA NA NA rs7214723 0.36 0.36 0.322 0.395367 0.4433 0.4028 0.5418 0.1044 0.6278 0.43 0.39 0.51 0.09 0.4395 0.51 . . 0.011 B 0.088 B 0.078 N 0.000 P 0.88 L 0.78 T -0.922 T 0.000 T 0.169 2.268 13.54 4.1 1.987 2.666 10.748 2.268221 2.268221 0.06 0.446047 0.171584 NA 0.312 NA 10.0044864 660 6 41250466 41250466 T A exonic TREM1 NA nonsynonymous SNV TREM1:NM_001242589:exon2:c.A73T:p.T25S,TREM1:NM_001242590:exon2:c.A73T:p.T25S,TREM1:NM_018643:exon2:c.A73T:p.T25S exonic ENSG00000124731 NA nonsynonymous SNV ENSG00000124731:ENST00000244709:exon2:c.A73T:p.T25S,ENSG00000124731:ENST00000334475:exon2:c.A73T:p.T25S,ENSG00000124731:ENST00000589614:exon2:c.A73T:p.T25S,ENSG00000124731:ENST00000591620:exon2:c.A73T:p.T25S NA NA 6p21.1 NA NA NA NA rs2234237 0.17 0.17 0.171 0.163938 0.1054 0.3165 0.1268 0.1467 0.1166 0.09 0.33 0.11 0.15 0.1294 0.33 0.8 T 0.0 B 0.0 B 0.000 N 1.000 P 0.69 N 3.15 T -1.024 T 0.003 T 0.04 -2.472 0.003 -7.63 -6.077 -5.456 2.098 -2.47238 NA 0.45 0.09407 0.124603 NA 0.167 NA 10.0044634 660 20 51870336 51870336 G C exonic TSHZ2 NA nonsynonymous SNV TSHZ2:NM_001193421:exon2:c.G330C:p.R110S,TSHZ2:NM_173485:exon2:c.G339C:p.R113S exonic ENSG00000182463 NA nonsynonymous SNV ENSG00000182463:ENST00000329613:exon2:c.G330C:p.R110S,ENSG00000182463:ENST00000371497:exon2:c.G339C:p.R113S,ENSG00000182463:ENST00000603338:exon2:c.G330C:p.R110S Score=336;Name=lod=31 NA 20q13.2 NA Name=NF-YA NA NA rs739869 0.06 0.06 0.055 0.0527157 0.1262 NA 0.0591 0.0514 0.0286 0.12 NA 0.07 0.04 0.0848 0.12 0.38 T 0.006 B 0.01 B 0.000 D 1.000 P 0.345 N 2.65 T -0.966 T 0.000 T 0.041 -0.995 0.268 1.09 0.285 0.479 7.722 -0.994872 NA 0.7 0.118953 0.058557 NA 0.065 NA 10.0033804 660 5 131995964 131995964 A G exonic IL13 NA nonsynonymous SNV IL13:NM_002188:exon4:c.A431G:p.Q144R exonic ENSG00000169194 NA nonsynonymous SNV ENSG00000169194:ENST00000304506:exon4:c.A431G:p.Q144R NA Name=Hodgkin's lymphoma,IgE levels,Psoriasis 5q31.1 NA NA NA NA rs20541 0.73 0.73 0.742 0.730032 0.7932 0.6399 0.6196 0.8101 0.728 0.77 0.66 0.68 0.79 0.7336 0.83 0.88 T . . . . 0.000 N 1.000 P . . 1.05 T -1.055 T 0.000 T 0.023 -2.297 0.004 -7.23 -4.680 -2.739 4.657 -2.297232 NA 1 0.805 0.827735 NA 0.688 CLINSIG=other|other;CLNDBN=Asthma\x2c_susceptibility_to|Allergic_rhinitis\x2c_susceptibility_to;CLNREVSTAT=single|single;CLNACC=RCV000015785.1|RCV000015786.1;CLNDSDB=MedGen:OMIM|.;CLNDSDBID=C1869116:600807|. 10.0015334 660 14 75513828 75513828 G A exonic MLH3 NA nonsynonymous SNV MLH3:NM_001040108:exon2:c.C2531T:p.P844L,MLH3:NM_014381:exon2:c.C2531T:p.P844L exonic ENSG00000119684 NA nonsynonymous SNV ENSG00000119684:ENST00000556740:exon1:c.C2531T:p.P844L,ENSG00000119684:ENST00000238662:exon2:c.C2531T:p.P844L,ENSG00000119684:ENST00000355774:exon2:c.C2531T:p.P844L,ENSG00000119684:ENST00000556257:exon2:c.C2531T:p.P844L NA NA 14q24.3 NA Name=c-Fos Name=46 NA rs175080 0.36 0.36 0.366 0.363818 0.4563 0.1508 0.3199 0.4259 0.4356 0.46 0.18 0.36 0.4 0.4126 0.46 0.31 T 0.01 B 0.009 B 0.116 N 1.000 P 1.245 L -1.43 T -0.979 T 0.000 T 0.101 -0.175 3.146 4.12 0.856 1.590 7.412 -0.175301 NA 0.09 0.462907 0.403087 NA 0.362 NA 10.0015264 660 20 36841914 36841914 G A exonic KIAA1755 NA nonsynonymous SNV KIAA1755:NM_001029864:exon14:c.C3133T:p.R1045W exonic ENSG00000149633 NA nonsynonymous SNV ENSG00000149633:ENST00000279024:exon14:c.C3133T:p.R1045W Score=265;Name=lod=16 NA 20q11.23 NA NA NA NA rs3746471 0.36 0.36 0.33 0.329872 0.4235 0.4524 0.4121 0.1225 0.3292 0.44 0.42 0.41 0.15 0.4604 0.45 0.17 T 0.003 B 0.001 B 0.341 N 0.986 P 0.895 L 3.24 T -0.938 T 0.000 T 0.053 0.977 8.99 3.3 1.468 1.844 8.563 0.977444 NA 0.01 0.447907 0.170903 NA 0.355 NA 10.0015264 660 1 111854938 111854938 G T exonic CHIA NA nonsynonymous SNV CHIA:NM_201653:exon4:c.G182T:p.R61M exonic ENSG00000134216 NA nonsynonymous SNV ENSG00000134216:ENST00000343320:exon3:c.G182T:p.R61M,ENSG00000134216:ENST00000369740:exon4:c.G182T:p.R61M Score=514;Name=lod=164 NA 1p13.2 NA NA NA NA rs41282496 0.1 0.1 0.121 0.107827 0.1093 NA 0.0821 0.2103 0.0971 0.12 NA 0.1 0.21 0.1066 0.21 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.34 N 3.51 T -0.962 T 0.001 T 0.136 -0.981 0.29 4.93 0.828 5.510 10.441 -0.980904 NA 1 0.116201 0.183638 NA 0.094 NA 10.0012324 660 22 46704676 46704676 A G exonic GTSE1 NA nonsynonymous SNV GTSE1:NM_016426:exon4:c.A598G:p.T200A exonic ENSG00000075218 NA nonsynonymous SNV ENSG00000075218:ENST00000454366:exon4:c.A598G:p.T200A NA NA 22q13.31 NA NA NA NA rs6008600 0.14 0.14 0.131 0.146765 0.1233 0.001 0.085 0.3858 0.0419 0.13 NA 0.1 0.37 0.1041 0.37 0.83 T 0.0 B 0.0 B 0.194 N 1.000 P 0 N 3.21 T -0.922 T 0.000 T 0.017 -0.099 3.517 -6.73 -1.072 -3.181 4.077 -0.098507 NA 0.95 0.105006 0.338864 NA 0.167 NA 10.0009274 660 3 141535608 141535608 C A exonic GRK7 NA nonsynonymous SNV GRK7:NM_139209:exon4:c.C1378A:p.P460T exonic ENSG00000114124 NA nonsynonymous SNV ENSG00000114124:ENST00000264952:exon4:c.C1378A:p.P460T Score=524;Name=lod=179 NA 3q23 NA NA NA NA rs33928105 0.08 0.08 0.075 0.0640974 0.1054 0.0139 0.0677 0.0817 0.047 0.11 0.01 0.09 0.09 0.0988 0.13 0.11 T 0.201 B 0.058 B 0.003 N 0.929 P 1.43 L 1.84 T -1.073 T 0.001 T 0.062 2.435 14.1 2.52 0.210 3.309 7.286 2.434647 2.434647 0.08 0.128488 0.083749 NA 0.087 NA 10.0006454 660 11 57982584 57982584 T C exonic OR1S1 NA nonsynonymous SNV OR1S1:NM_001004458:exon1:c.T368C:p.I123T exonic ENSG00000172774 NA nonsynonymous SNV ENSG00000172774:ENST00000309433:exon1:c.T368C:p.I123T NA NA 11q12.1 Score=913;Name=V$FOXJ2_01 NA NA NA rs1966835 0.49 0.49 0.463 0.523163 0.4225 0.8036 0.5418 0.2844 0.6472 0.41 0.76 0.52 0.3 0.4877 0.76 0.03 D 0.0 B 0.002 B 0.227 N 1.000 P -0.825 N 4.69 T -1.040 T 0.000 T 0.027 -0.94 0.36 -2.56 -0.406 -1.070 1.423 -0.939776 NA 0.2 0.423999 0.300545 NA 0.493 NA 9.9991344 660 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 660 12 120954490 120954490 C T exonic COQ5 NA nonsynonymous SNV COQ5:NM_032314:exon3:c.G454A:p.A152T exonic ENSG00000110871 NA nonsynonymous SNV ENSG00000110871:ENST00000547943:exon2:c.G304A:p.A102T,ENSG00000110871:ENST00000288532:exon3:c.G454A:p.A152T,ENSG00000110871:ENST00000551769:exon3:c.G211A:p.A71T,ENSG00000110871:ENST00000552443:exon4:c.G211A:p.A71T Score=493;Name=lod=134 NA 12q24.31 NA NA NA NA rs3742049 0.15 0.15 0.158 0.144569 0.1083 0.0794 0.1037 0.2859 0.0869 0.12 0.08 0.11 0.3 0.1184 0.3 0.15 T 0.051 B 0.03 B 0.001 N 0.000 P 1.7 L 0.54 T -1.071 T 0.000 T 0.239 2.86 15.53 4.48 2.536 0.640 7.399 2.859622 2.859622 0.29 0.107791 0.252383 ID=COSM1162585;OCCURENCE=1(pancreas) 0.188 NA 9.9988424 660 6 88126423 88126423 G C exonic C6orf165 NA nonsynonymous SNV C6orf165:NM_001031743:exon6:c.G509C:p.G170A exonic ENSG00000213204,ENSG00000272514 NA nonsynonymous SNV ENSG00000272514:ENST00000369562:exon6:c.G509C:p.G170A,ENSG00000272514:ENST00000480123:exon6:c.G509C:p.G170A,ENSG00000213204:ENST00000507897:exon6:c.G509C:p.G170A Score=529;Name=lod=188 NA 6q15 NA NA NA NA rs16879281 0.1 0.1 0.077 0.101238 0.1193 0.1042 0.0692 0.0862 0.1227 0.12 0.1 0.08 0.08 0.1067 0.12 0.94 T 0.176 B 0.04 B 0.004 N 0.218 P 1.395 L 1.62 T -1.015 T 0.019 T 0.272 0.76 8.024 2.88 0.291 1.409 10.520 0.760261 NA 0.61 0.109651 0.100318 NA 0.072 NA 9.9976824 660 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 660 6 40998167 40998167 T C exonic UNC5CL NA nonsynonymous SNV UNC5CL:NM_173561:exon8:c.A1294G:p.R432G exonic ENSG00000124602 NA nonsynonymous SNV ENSG00000124602:ENST00000373164:exon7:c.A1294G:p.R432G,ENSG00000124602:ENST00000244565:exon8:c.A1294G:p.R432G NA NA 6p21.1 Score=826;Name=V$GRE_C NA NA NA rs742493 0.08 0.08 0.062 0.0684904 0.1163 0.0407 0.0908 0.0257 0.09 0.11 0.04 0.11 0.04 0.1012 0.12 0.44 T 0.425 B 0.182 B 0.001 D 1.000 P -0.55 N -2.09 D -0.958 T 0.158 T 0.312 1.248 10.07 -1.76 -0.136 0.524 13.492 1.248293 1.248293 0.26 0.118488 0.039946 NA 0.058 NA 9.9973454 661 7 127251188 127251188 T G exonic PAX4 NA nonsynonymous SNV PAX4:NM_006193:exon9:c.A962C:p.H321P exonic ENSG00000106331 NA nonsynonymous SNV ENSG00000106331:ENST00000463946:exon8:c.A956C:p.H319P,ENSG00000106331:ENST00000341640:exon9:c.A962C:p.H321P NA NA 7q32.1 NA NA NA NA rs712701 0.66 0.66 0.64 0.670527 0.7813 0.3591 0.7608 0.7277 0.7362 0.78 0.37 0.78 0.72 0.7578 0.8 0.24 T 0.0 B 0.0 B . . 1.000 P 1.15 L -3.2 D -0.966 T 0.000 T 0.052 -0.251 2.795 -3.35 -1.287 -1.288 2.721 -0.25056 NA 1 0.799605 0.709033 NA 0.638 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117896.1;CLNDSDB=.;CLNDSDBID=. 9.9946284 661 11 66468469 66468469 A G exonic SPTBN2 NA nonsynonymous SNV SPTBN2:NM_006946:exon16:c.T3101C:p.V1034A exonic ENSG00000173898 NA nonsynonymous SNV ENSG00000173898:ENST00000529997:exon15:c.T3101C:p.V1034A,ENSG00000173898:ENST00000309996:exon16:c.T3101C:p.V1034A,ENSG00000173898:ENST00000533211:exon17:c.T3101C:p.V1034A NA NA 11q13.2 NA NA NA NA rs506028 0.2 0.2 0.177 0.205671 0.1133 0.2827 0.1268 0.3268 0.1135 0.12 0.29 0.13 0.27 0.1335 0.29 0.55 T 0.0 B 0.0 B 0.750 N 1.000 P -0.295 N 0.87 T -0.978 T 0.000 T 0.039 -1.453 0.019 4.51 1.137 -0.102 11.762 -1.452569 NA 0.63 0.092424 0.260692 NA 0.152 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118411.2;CLNDSDB=.;CLNDSDBID=. 9.9941094 661 21 31744310 31744310 G C exonic KRTAP13-2 NA nonsynonymous SNV KRTAP13-2:NM_181621:exon1:c.C222G:p.S74R exonic ENSG00000182816 NA nonsynonymous SNV ENSG00000182816:ENST00000399889:exon1:c.C222G:p.S74R NA NA 21q22.11 NA NA NA NA rs3804010 0.14 0.14 0.141 0.150958 0.1223 0.0615 0.0994 0.2943 0.1155 0.11 0.06 0.11 0.32 0.1123 0.32 0.37 T 0.019 B 0.023 B 0.007 N 1.000 P 0.785 N 4.01 T -0.967 T 0.000 T 0.062 -1.151 0.102 -9.5 -3.351 -4.043 4.929 -1.151315 NA NA 0.107907 0.276214 NA 0.152 NA 9.9908264 661 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 661 16 319511 319511 A G exonic RGS11 NA nonsynonymous SNV RGS11:NM_003834:exon16:c.T1217C:p.M406T,RGS11:NM_183337:exon16:c.T1280C:p.M427T exonic ENSG00000076344 NA nonsynonymous SNV ENSG00000076344:ENST00000359740:exon15:c.T1247C:p.M416T,ENSG00000076344:ENST00000316163:exon16:c.T1217C:p.M406T,ENSG00000076344:ENST00000397770:exon16:c.T1280C:p.M427T Score=423;Name=lod=70 NA 16p13.3 NA NA NA NA rs739999 0.29 0.29 0.28 0.308906 0.0785 0.3194 0.2493 0.6415 0.1278 0.08 0.34 0.24 0.62 0.1762 0.62 0.93 T 0.0 B 0.0 B 0.007 N 0.000 P -1.975 N 1.86 T -0.931 T 0.000 T 0.057 0.033 4.184 3.46 0.341 4.897 9.475 0.032829 NA 0.54 0.089419 0.549955 ID=COSM1376976;OCCURENCE=1(large_intestine) 0.283 NA 9.9892144 661 17 29226228 29226228 T C exonic TEFM NA nonsynonymous SNV TEFM:NM_024683:exon4:c.A1042G:p.I348V exonic ENSG00000172171 NA nonsynonymous SNV ENSG00000172171:ENST00000581216:exon4:c.A1042G:p.I348V Score=510;Name=lod=157 NA 17q11.2 NA NA NA NA rs2433 0.13 0.13 0.104 0.144569 0.1074 0.1369 0.1859 0.0719 0.2597 0.09 0.16 0.18 0.09 0.1327 0.18 1 T 0.0 B 0.0 B 0.030 N 0.000 P -1.11 N . . -1.024 T 0.000 T 0.018 -0.36 2.302 -3.95 -0.961 -0.218 13.169 -0.359837 NA 0.34 0.104233 0.070071 NA 0.138 NA 9.9890004 661 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,KAP1,c-Jun,GATA-2 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 661 1 32165495 32165495 G T exonic COL16A1 NA nonsynonymous SNV COL16A1:NM_001856:exon4:c.C185A:p.T62K exonic ENSG00000084636 NA nonsynonymous SNV ENSG00000084636:ENST00000271069:exon4:c.C185A:p.T62K,ENSG00000084636:ENST00000373668:exon4:c.C185A:p.T62K,ENSG00000084636:ENST00000373672:exon4:c.C185A:p.T62K NA NA 1p35.2 NA Name=Egr-1,EBF,EBF1_(C-8) NA NA rs2228552 0.43 0.43 0.436 0.427316 0.6481 0.2708 0.4553 0.261 0.5665 0.65 0.24 0.51 0.25 0.5629 0.65 0.18 T 0.969 D 0.473 P 0.689 N 1.000 P 1.04 L 1.85 T -0.969 T 0.000 T 0.11 1.608 11.33 -2.4 -1.129 -0.788 8.052 1.607805 1.607805 0.07 0.634486 0.34669 ID=COSM1341749;OCCURENCE=1(large_intestine) 0.478 NA 9.9878474 661 17 56435080 56435080 G C exonic RNF43 NA nonsynonymous SNV RNF43:NM_017763:exon9:c.C2057G:p.P686R exonic ENSG00000108375 NA nonsynonymous SNV ENSG00000108375:ENST00000583753:exon7:c.C1934G:p.P645R,ENSG00000108375:ENST00000500597:exon8:c.C1934G:p.P645R,ENSG00000108375:ENST00000577625:exon8:c.C1676G:p.P559R,ENSG00000108375:ENST00000581868:exon8:c.C1676G:p.P559R,ENSG00000108375:ENST00000584437:exon8:c.C2057G:p.P686R,ENSG00000108375:ENST00000407977:exon9:c.C2057G:p.P686R,ENSG00000108375:ENST00000577716:exon9:c.C2057G:p.P686R NA NA 17q22 NA NA NA NA rs9652855 0.08 0.08 0.088 0.0782748 0.1223 NA 0.0548 0.1377 0.0501 0.12 NA 0.07 0.12 0.0974 0.13 0 D 0.006 B 0.007 B 0.216 N 1.000 P 0.975 L 3.19 T -1.043 T 0.000 T 0.103 1.107 9.516 3.1 0.699 2.033 8.141 1.107052 NA 0 0.125814 0.118248 NA 0.058 NA 9.9878194 661 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 662 12 100042040 100042040 C G exonic FAM71C NA nonsynonymous SNV FAM71C:NM_153364:exon1:c.C88G:p.R30G exonic ENSG00000180219 NA nonsynonymous SNV ENSG00000180219:ENST00000324341:exon1:c.C88G:p.R30G Score=265;Name=lod=16 NA 12q23.1 NA NA NA NA rs11109968 0.24 0.24 0.227 0.21885 0.2903 0.0992 0.1787 0.3094 0.1748 0.31 0.1 0.2 0.31 0.2631 0.31 . . 0.971 D 0.755 P 0.681 N 0.991 P 1.355 L 2.64 T -0.920 T 0.000 T 0.124 1.212 9.922 2.13 0.643 -0.007 6.523 1.21232 NA 0.01 0.296395 0.304358 NA 0.37 NA 9.9835384 662 8 17157677 17157677 T G exonic MTMR7 NA nonsynonymous SNV MTMR7:NM_004686:exon14:c.A1677C:p.Q559H exonic ENSG00000003987 NA nonsynonymous SNV ENSG00000003987:ENST00000398099:exon5:c.A450C:p.Q150H,ENSG00000003987:ENST00000180173:exon14:c.A1677C:p.Q559H NA NA 8p22 Score=839;Name=V$IRF2_01 NA NA NA rs3764796 0.1 0.1 0.095 0.105631 0.1203 0.1062 0.0951 0.0091 0.228 0.12 0.13 0.1 0.02 0.1161 0.13 0.14 T 0.367 B 0.135 B 0.874 N 1.000 P 0.69 N 0.63 T -1.067 T 0.004 T 0.074 1.796 11.96 -3.96 -0.409 -1.732 8.429 1.795621 1.795621 0.12 0.113721 0.02315 NA 0.058 NA 9.9832124 662 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 662 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 663 7 92764489 92764489 C T exonic SAMD9L NA nonsynonymous SNV SAMD9L:NM_152703:exon5:c.G796A:p.V266I exonic ENSG00000177409 NA nonsynonymous SNV ENSG00000177409:ENST00000318238:exon5:c.G796A:p.V266I,ENSG00000177409:ENST00000411955:exon6:c.G796A:p.V266I,ENSG00000177409:ENST00000437805:exon6:c.G796A:p.V266I NA NA 7q21.2 NA NA NA NA rs10488532 0.08 0.08 0.062 0.0992412 0.1282 0.0367 0.1052 0.0439 0.2045 0.12 0.03 0.13 0.04 0.1109 0.13 0.51 T 0.0 B 0.001 B 0.000 N 1.000 P 1.39 L 2.55 T -1.046 T 0.000 T 0.033 -1.617 0.013 -9.31 -3.986 -4.374 7.978 -1.6172 NA 0.48 0.119679 0.065592 NA 0.058 NA 9.9745544 663 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 663 3 197701913 197701913 G T exonic LMLN NA nonsynonymous SNV LMLN:NM_001136049:exon3:c.G318T:p.E106D,LMLN:NM_033029:exon3:c.G318T:p.E106D exonic ENSG00000185621 NA nonsynonymous SNV ENSG00000185621:ENST00000330198:exon3:c.G318T:p.E106D,ENSG00000185621:ENST00000332636:exon3:c.G162T:p.E54D,ENSG00000185621:ENST00000419117:exon3:c.G102T:p.E34D,ENSG00000185621:ENST00000420910:exon3:c.G318T:p.E106D,ENSG00000185621:ENST00000482695:exon3:c.G162T:p.E54D Score=472;Name=lod=110 NA 3q29 NA NA NA NA rs7373165 0.17 0.17 0.191 0.209465 0.1173 0.0109 0.1023 0.5197 0.1656 0.11 0.01 0.1 0.49 0.135 0.49 . . 0.002 B 0.012 B 0.008 N 0.987 P 0.345 N 0.96 T -0.910 T 0.000 T 0.116 1.731 11.75 3.56 1.084 0.868 8.178 1.731285 1.731285 0.32 0.109302 0.446891 NA 0.196 NA 9.9717314 663 19 40196611 40196611 C T exonic LGALS14 NA nonsynonymous SNV LGALS14:NM_203471:exon2:c.C64T:p.R22C exonic ENSG00000006659 NA nonsynonymous SNV ENSG00000006659:ENST00000360675:exon2:c.C64T:p.R22C NA NA 19q13.2 NA Name=YY1_(C-20),Oct-2,PAX5-N19,YY1,POU2F2,IRF4_(M-17),BCL11A,EBF1_(C-8),Pol2-4H8 Name=16 NA rs35541195 0.07 0.07 0.072 0.0503195 0.1451 NA 0.0648 0.0356 0.0143 0.13 NA 0.09 0.05 0.0896 0.13 0.05 D 0.301 B 0.001 B . . 1.000 P 0 N 3.01 T -0.948 T 0.000 T 0.015 0.204 5.101 -0.462 -0.197 -0.305 3.732 0.204247 NA 0.06 0.127674 0.054244 NA 0.058 NA 9.9709594 663 9 138662273 138662273 G A exonic KCNT1 NA synonymous SNV KCNT1:NM_001272003:exon16:c.G1614A:p.A538A,KCNT1:NM_020822:exon17:c.G1749A:p.A583A exonic ENSG00000107147 NA synonymous SNV ENSG00000107147:ENST00000487664:exon16:c.G1614A:p.A538A,ENSG00000107147:ENST00000491806:exon16:c.G1650A:p.A550A,ENSG00000107147:ENST00000263604:exon17:c.G1692A:p.A564A,ENSG00000107147:ENST00000298480:exon17:c.G1749A:p.A583A,ENSG00000107147:ENST00000371757:exon17:c.G1749A:p.A583A,ENSG00000107147:ENST00000486577:exon17:c.G1632A:p.A544A,ENSG00000107147:ENST00000488444:exon17:c.G1692A:p.A564A,ENSG00000107147:ENST00000490355:exon17:c.G1692A:p.A564A Score=605;Name=lod=383 NA 9q34.3 NA Name=c-Myc Name=2 Score=71;Name=2493126_0_-_71 rs17038714 0.33 0.33 0.301 0.355431 0.2217 0.4147 0.1772 0.4924 0.3732 0.22 0.45 0.21 0.46 0.268 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.499006 1.499006 NA 0.207442 0.470936 NA 0.326 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117359.2;CLNDSDB=.;CLNDSDBID=. 9.9695246 663 3 118649060 118649060 G T exonic IGSF11 NA nonsynonymous SNV IGSF11:NM_001015887:exon2:c.C115A:p.P39T,IGSF11:NM_152538:exon4:c.C112A:p.P38T exonic ENSG00000144847 NA nonsynonymous SNV ENSG00000144847:ENST00000393775:exon2:c.C115A:p.P39T,ENSG00000144847:ENST00000489689:exon2:c.C115A:p.P39T,ENSG00000144847:ENST00000491903:exon2:c.C115A:p.P39T,ENSG00000144847:ENST00000425327:exon3:c.C112A:p.P38T,ENSG00000144847:ENST00000354673:exon4:c.C112A:p.P38T,ENSG00000144847:ENST00000441144:exon4:c.C112A:p.P38T Score=577;Name=lod=294 NA 3q13.32 Score=791;Name=V$MYOGNF1_01 NA NA NA rs2903250 0.84 0.84 0.841 0.863219 0.7604 0.8046 0.8689 0.9834 0.863 0.77 0.8 0.87 0.99 0.8216 0.99 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.37 N 0.05 T -0.944 T 0.000 T 0.027 -0.161 3.214 5.27 1.021 2.778 7.294 -0.161042 NA 1 0.782442 0.952111 NA 0.746 NA 9.9688914 663 7 7545691 7545691 G C exonic COL28A1 NA nonsynonymous SNV COL28A1:NM_001037763:exon11:c.C980G:p.T327S exonic ENSG00000215018 NA nonsynonymous SNV ENSG00000215018:ENST00000399429:exon11:c.C980G:p.T327S Score=363;Name=lod=40 NA 7p21.3 NA NA Name=13 NA rs10486176 0.13 0.13 0.123 0.142971 0.1173 0.1696 0.1527 0.1188 0.1677 0.11 0.15 0.17 0.11 0.131 0.22 0.58 T 0.0 B 0.001 B 0.929 N 1.000 P 1.05 L -3.18 D -0.954 T 0.004 T 0.013 -1.201 0.072 1.68 0.010 0.520 5.235 -1.201327 NA 0.82 0.116642 0.120968 NA 0.174 NA 9.9683914 663 12 124097766 124097766 A G exonic DDX55 NA nonsynonymous SNV DDX55:NM_020936:exon8:c.A791G:p.N264S exonic ENSG00000111364 NA nonsynonymous SNV ENSG00000111364:ENST00000238146:exon8:c.A791G:p.N264S,ENSG00000111364:ENST00000538744:exon8:c.A791G:p.N264S Score=547;Name=lod=222 NA 12q24.31 NA NA NA NA rs11057306 0.15 0.15 0.159 0.152157 0.1153 0.0298 0.098 0.3646 0.0675 0.12 0.02 0.12 0.38 0.1187 0.38 1 T 0.0 B 0.001 B 0.000 N 0.000 P -0.415 N 3.6 T -1.073 T 0.000 T 0.063 -0.125 3.387 3.52 0.491 3.735 9.534 -0.125027 NA 1 0.131628 0.329551 NA 0.101 NA 9.9677054 664 7 34818113 34818113 A T exonic NPSR1 NA nonsynonymous SNV NPSR1:NM_207172:exon3:c.A320T:p.N107I,NPSR1:NM_207173:exon3:c.A320T:p.N107I exonic ENSG00000187258 NA nonsynonymous SNV ENSG00000187258:ENST00000359791:exon3:c.A320T:p.N107I,ENSG00000187258:ENST00000360581:exon3:c.A320T:p.N107I,ENSG00000187258:ENST00000381539:exon3:c.A320T:p.N107I,ENSG00000187258:ENST00000381553:exon3:c.A320T:p.N107I,ENSG00000187258:ENST00000396095:exon3:c.A320T:p.N107I,ENSG00000187258:ENST00000531252:exon3:c.A287T:p.N96I NA NA 7p14.3 Score=858;Name=V$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 664 3 48628014 48628014 G A exonic COL7A1 NA nonsynonymous SNV COL7A1:NM_000094:exon14:c.C1784T:p.P595L exonic ENSG00000114270 NA nonsynonymous SNV ENSG00000114270:ENST00000328333:exon14:c.C1784T:p.P595L,ENSG00000114270:ENST00000454817:exon14:c.C1784T:p.P595L NA NA 3p21.31 NA NA NA NA rs2228561 0.07 0.07 0.071 0.0990415 0.1233 0.0357 0.0735 0.0303 0.2505 0.12 0.04 0.07 0.04 0.1192 0.13 0.43 T 0.0 B 0.0 B 0.170 N 1.000 P 0.755 N -2.27 D -1.048 T 0.006 T 0.052 -0.216 2.955 -2.98 -0.751 -1.148 3.713 -0.215871 NA 0.3 0.127093 0.05379 NA 0.036 NA 9.9637404 664 10 12046546 12046546 T C exonic UPF2 NA nonsynonymous SNV UPF2:NM_015542:exon5:c.A1487G:p.N496S,UPF2:NM_080599:exon5:c.A1487G:p.N496S exonic ENSG00000151461 NA nonsynonymous SNV ENSG00000151461:ENST00000356352:exon4:c.A1487G:p.N496S,ENSG00000151461:ENST00000357604:exon5:c.A1487G:p.N496S,ENSG00000151461:ENST00000397053:exon5:c.A1487G:p.N496S Score=456;Name=lod=95 NA 10p14 Score=748;Name=V$STAT5A_02 NA NA NA rs7079388 0.06 0.06 0.051 0.0543131 0.1312 NA 0.0461 0.003 0.1063 0.14 NA 0.05 NA 0.1092 0.14 0.81 T 0.0 B 0.001 B 0.079 N 0.460 P 0 N 1.29 T -1.013 T 0.000 T 0.02 -0.185 3.102 2.65 0.248 0.001 7.274 -0.184556 NA 0.8 0.129535 0.025874 NA 0.101 NA 9.9633984 664 3 11871215 11871215 T C exonic TAMM41 NA nonsynonymous SNV TAMM41:NM_138807:exon4:c.A535G:p.I179V exonic ENSG00000144559 NA nonsynonymous SNV ENSG00000144559:ENST00000273037:exon4:c.A535G:p.I179V,ENSG00000144559:ENST00000444133:exon4:c.A535G:p.I179V,ENSG00000144559:ENST00000455809:exon4:c.A535G:p.I179V NA NA 3p25.2 Score=763;Name=V$STAT5A_02 NA NA NA rs11551661 0.06 0.06 0.048 0.0519169 0.1352 0.005 0.0677 0.003 0.0695 0.14 0.0035 0.07 0.002 0.0984 0.14 0.66 T 0.043 B 0.013 B 0.707 N 1.000 P 0.205 N 1.59 T -1.010 T 0.000 T 0.033 1.191 9.84 -8.09 -1.279 -0.515 5.112 1.190737 NA 0.41 0.137791 0.03064 NA 0.174 NA 9.9619424 664 13 25831888 25831888 T C exonic MTMR6 NA nonsynonymous SNV MTMR6:NM_004685:exon8:c.A955G:p.I319V exonic ENSG00000139505 NA nonsynonymous SNV ENSG00000139505:ENST00000381801:exon8:c.A955G:p.I319V,ENSG00000139505:ENST00000540661:exon8:c.A955G:p.I319V Score=484;Name=lod=124 NA 13q12.13 NA NA NA NA rs7995033 0.55 0.55 0.502 0.492212 0.838 0.5665 0.513 0.1384 0.5235 0.83 0.56 0.52 0.14 0.6992 0.84 1 T 0.0 B 0.001 B 0.000 D 0.073 P -0.145 N -2.58 D -0.951 T 0.000 T 0.06 0.858 8.474 3.03 0.923 1.437 8.482 0.858231 NA 0.55 0.83593 0.243305 ID=COSM147651;OCCURENCE=1(stomach) 0.594 NA 9.9602034 664 17 38857446 38857446 C A exonic KRT24 NA nonsynonymous SNV KRT24:NM_019016:exon3:c.G801T:p.M267I exonic ENSG00000167916 NA nonsynonymous SNV ENSG00000167916:ENST00000264651:exon3:c.G801T:p.M267I Score=473;Name=lod=112 NA 17q21.2 Score=792;Name=V$OCT1_04 Name=ERalpha_a NA NA rs874889 0.46 0.46 0.386 0.476837 0.4563 0.5823 0.6427 0.239 0.593 0.47 0.56 0.62 0.24 0.486 0.62 0.37 T 0.0 B 0.002 B . . 0.993 P 0.615 N -1.43 T -0.903 T 0.000 T 0.119 0.504 6.732 2.79 0.395 0.613 8.290 0.503839 NA 0.28 0.431977 0.281207 NA 0.261 NA 9.9590564 664 6 42666164 42666164 G C exonic PRPH2 NA nonsynonymous SNV PRPH2:NM_000322:exon3:c.C910G:p.Q304E exonic ENSG00000112619 NA nonsynonymous SNV ENSG00000112619:ENST00000230381:exon3:c.C910G:p.Q304E Score=557;Name=lod=244 NA 6p21.1 NA Name=CTCF_(SC-5916),CTCF NA NA rs390659 0.78 0.78 0.789 0.756589 0.7962 0.8452 0.7262 0.7035 0.7178 0.79 0.85 0.72 0.73 0.7774 0.85 1 T . . . . 0.000 N 0.998 P . . 4.3 T -1.001 T 0.003 T 0.022 0.565 7.052 5.44 1.309 6.040 16.413 0.564588 NA 1 0.801047 0.72946 NA 0.819 NA 9.9586864 664 1 110950439 110950439 C T exonic LAMTOR5 NA nonsynonymous SNV LAMTOR5:NM_006402:exon1:c.G50A:p.S17N exonic ENSG00000134248 NA nonsynonymous SNV ENSG00000134248:ENST00000256644:exon1:c.G50A:p.S17N NA NA 1p13.3 NA Name=BCLAF1_(M33-P5B11),ATF3,ETS1,HNF4G_(SC-6558),STAT1,ELF1_(SC-631),KAP1,HEY1,GABP,MEF2A,Pol2-4H8,NFKB,IRF4_(M-17),TAF1,CTCF_(C-20),RFX5_(N-494),HMGN3,ZEB1_(SC-25388),CTCF,GTF2B,E2F6_(H-50),E2F6,POU2F2,TAF7_(SQ-8),p300,HA-E2F1,CHD2_(N-1250),Pol2(phosphoS2),USF-1,USF2,Pol2,CTCFL_(SC-98982),GTF2F1_(RAP-74),GR,ZNF263,HNF4A_(H-171),CEBPB,BRCA1_(C-1863),YY1,Egr-1,TBP,CCNT2,Pol2(b),ELK4,Mxi1_(bHLH),NRSF,PAX5-C20,STAT3,E2F4,SIX5,eGFP-JunD,Sin3Ak-20,FOSL1_(SC-183),THAP1_(SC-98174),SP1,IRF1,SRF,Oct-2,Rad21,c-Myc,ZBTB33,YY1_(C-20),TCF4,Max Name=148 NA rs6674775 0.37 0.37 0.341 0.363419 0.4453 0.2758 0.379 0.3056 0.4366 0.47 0.25 0.4 0.35 0.4359 0.49 . . . . . . . . 1.000 P . . . . -1.006 T 0.015 T 0.019 2.486 14.27 -4.97 -1.854 -0.666 1.919 2.485686 2.485686 0 0.493605 0.348162 ID=COSM1332599;OCCURENCE=1(large_intestine) 0.5 NA 9.9585284 664 7 32338337 32338337 G A exonic PDE1C NA nonsynonymous SNV PDE1C:NM_001191058:exon1:c.C11T:p.A4V exonic ENSG00000154678 NA nonsynonymous SNV ENSG00000154678:ENST00000396193:exon1:c.C11T:p.A4V Score=592;Name=lod=338 NA 7p14.3 Score=773;Name=V$TAXCREB_02 NA NA NA rs215607 0.79 0.79 0.77 0.784545 0.8012 0.7917 0.853 0.7179 0.8016 0.8 0.77 0.83 0.77 0.8061 0.83 0.06 T 0.012 B 0.008 B 0.899 N 0.000 P 0 N -0.98 T -0.878 T 0.000 T 0.047 2.849 15.49 4.05 2.085 6.649 15.136 2.849002 2.849002 0.18 0.767857 0.709475 NA 0.63 NA 9.9581764 664 12 3789452 3789452 C T exonic EFCAB4B NA nonsynonymous SNV EFCAB4B:NM_001144958:exon5:c.G292A:p.A98T,EFCAB4B:NM_032680:exon5:c.G292A:p.A98T exonic ENSG00000130038 NA nonsynonymous SNV ENSG00000130038:ENST00000252322:exon5:c.G292A:p.A98T,ENSG00000130038:ENST00000440314:exon5:c.G292A:p.A98T,ENSG00000130038:ENST00000444507:exon5:c.G292A:p.A98T Score=567;Name=lod=269 NA 12p13.32 NA NA NA NA rs17836273 0.14 0.14 0.129 0.155351 0.1123 0.128 0.2262 0.1331 0.2076 0.11 0.14 0.22 0.14 0.1509 0.22 0.6 T 0.243 B 0.078 B 0.001 N 0.006 P 0.88 L -0.36 T -1.092 T 0.000 T 0.074 1.777 11.9 3.79 1.194 0.198 10.897 1.776639 1.776639 0.21 0.112907 0.133681 NA 0.145 NA 9.9572264 664 1 175092674 175092674 C T exonic TNN NA nonsynonymous SNV TNN:NM_022093:exon12:c.C2789T:p.P930L exonic ENSG00000120332 NA nonsynonymous SNV ENSG00000120332:ENST00000239462:exon12:c.C2789T:p.P930L NA NA 1q25.1 NA NA NA NA rs2285215 0.61 0.61 0.61 0.598243 0.6421 0.4921 0.6671 0.6203 0.5838 0.65 0.49 0.67 0.64 0.6033 0.67 0.41 T 0.973 D 0.703 P 0.011 N 1.000 P 2.29 M 0.46 T -0.911 T 0.000 T 0.087 2.485 14.27 3.1 0.605 1.703 5.896 2.485302 2.485302 1 0.63186 0.605765 ID=COSM146692;OCCURENCE=1(breast),1(stomach),1(large_intestine) 0.71 NA 9.9560734 665 16 53341748 53341748 T G exonic CHD9 NA nonsynonymous SNV CHD9:NM_025134:exon33:c.T6936G:p.D2312E exonic ENSG00000177200 NA nonsynonymous SNV ENSG00000177200:ENST00000398510:exon32:c.T6936G:p.D2312E,ENSG00000177200:ENST00000447540:exon33:c.T6939G:p.D2313E,ENSG00000177200:ENST00000564845:exon33:c.T6936G:p.D2312E,ENSG00000177200:ENST00000566029:exon33:c.T6936G:p.D2312E Score=459;Name=lod=98 NA 16q12.2 Score=747;Name=V$PAX4_04 NA NA NA rs6499548 0.82 0.82 0.826 0.826877 0.7913 0.7837 0.8098 0.9349 0.774 0.79 0.78 0.81 0.93 0.7961 0.93 1 T 0.138 B 0.085 B 0.000 N 1.000 P -1.43 N -1.87 D -0.939 T 0.000 T 0.069 -0.689 1.008 4.73 0.845 1.123 7.839 -0.688813 NA 1 0.791928 0.906793 NA 0.884 NA 9.9540054 665 12 3806147 3806147 T C exonic EFCAB4B NA nonsynonymous SNV EFCAB4B:NM_001144958:exon4:c.A19G:p.R7G,EFCAB4B:NM_032680:exon4:c.A19G:p.R7G exonic ENSG00000130038 NA nonsynonymous SNV ENSG00000130038:ENST00000252322:exon4:c.A19G:p.R7G,ENSG00000130038:ENST00000440314:exon4:c.A19G:p.R7G,ENSG00000130038:ENST00000444507:exon4:c.A19G:p.R7G NA NA 12p13.32 NA NA NA NA rs9788233 0.15 0.15 0.103 0.162939 0.1143 0.1835 0.2277 0.1165 0.2086 0.1 0.2 0.22 0.12 0.173 0.22 0.05 D 0.035 B 0.04 B 0.116 N 1.000 P 1.995 M 2.39 T -1.083 T 0.000 T 0.175 1.989 12.61 1.85 0.363 1.314 4.089 1.989014 1.989014 0 0.092791 0.110758 ID=COSM1178334,COSM1178335;OCCURENCE=1(prostate) 0.123 NA 9.9532424 665 22 45128232 45128232 T C exonic PRR5 NA synonymous SNV PRR5:NM_001017529:exon6:c.T231C:p.R77R,PRR5:NM_001017530:exon6:c.T231C:p.R77R,PRR5:NM_181333:exon6:c.T516C:p.R172R,PRR5:NM_001017528:exon7:c.T489C:p.R163R,PRR5:NM_015366:exon7:c.T489C:p.R163R,PRR5:NM_001198721:exon8:c.T585C:p.R195R exonic ENSG00000186654,ENSG00000241484,ENSG00000248405 NA synonymous SNV ENSG00000186654:ENST00000336985:exon6:c.T516C:p.R172R,ENSG00000248405:ENST00000352766:exon6:c.T516C:p.R172R,ENSG00000241484:ENST00000517296:exon6:c.T516C:p.R172R,ENSG00000186654:ENST00000006251:exon7:c.T489C:p.R163R,ENSG00000186654:ENST00000432186:exon7:c.T489C:p.R163R,ENSG00000186654:ENST00000457960:exon7:c.T489C:p.R163R,ENSG00000186654:ENST00000403581:exon8:c.T585C:p.R195R Score=528;Name=lod=186 NA 22q13.31 NA NA NA NA rs8141631 0.35 0.35 0.363 0.38139 0.2247 0.3889 0.3012 0.6271 0.2597 0.2 0.37 0.29 0.59 0.2745 0.59 . . . . . . . . 0.000 P . . . . -0.948 T 0.000 T . 1.205 9.896 -8.44 -1.442 -1.994 4.223 1.205467 NA NA 0.215317 0.560427 NA 0.333 NA 9.9521496 665 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 665 21 41032740 41032740 T C exonic B3GALT5 NA nonsynonymous SNV B3GALT5:NM_006057:exon3:c.T254C:p.M85T,B3GALT5:NM_033170:exon3:c.T254C:p.M85T,B3GALT5:NM_033172:exon3:c.T254C:p.M85T,B3GALT5:NM_033171:exon4:c.T254C:p.M85T exonic ENSG00000183778 NA nonsynonymous SNV ENSG00000183778:ENST00000398714:exon2:c.T254C:p.M85T,ENSG00000183778:ENST00000343118:exon3:c.T254C:p.M85T,ENSG00000183778:ENST00000380618:exon3:c.T254C:p.M85T,ENSG00000183778:ENST00000380620:exon5:c.T254C:p.M85T NA NA 21q22.2 NA Name=c-Myc,c-Fos,c-Jun Name=93 NA rs3746887 0.66 0.66 0.599 0.653355 0.8151 0.6508 0.7233 0.3888 0.7975 0.82 0.61 0.76 0.38 0.7577 0.82 0.6 T 0.001 B 0.002 B 0.013 N 1.000 P -0.675 N 1.08 T -0.993 T 0.000 T 0.027 -0.498 1.715 -5.7 -1.037 -3.510 2.683 -0.498176 NA 0.83 0.810116 0.44099 NA 0.674 NA 9.9504174 665 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 665 9 107360922 107360922 A G exonic OR13C5 NA nonsynonymous SNV OR13C5:NM_001004482:exon1:c.T773C:p.M258T exonic ENSG00000255800 NA nonsynonymous SNV ENSG00000255800:ENST00000374779:exon1:c.T773C:p.M258T NA NA 9q31.1 NA NA NA NA rs1851724 0.66 0.66 0.668 0.676917 0.4235 0.9573 0.5937 0.7466 0.6135 0.44 0.96 0.57 0.71 0.5362 0.96 0.08 T 0.68 P 0.479 P 0.141 U 0.999 P 1.28 L 8.64 T -0.903 T 0.000 T 0.12 2.562 14.53 4.03 1.704 1.107 6.022 2.562208 2.562208 0.07 0.424186 0.718339 NA 0.601 NA 9.9494474 665 11 55606693 55606693 G A exonic OR5D16 NA nonsynonymous SNV OR5D16:NM_001005496:exon1:c.G466A:p.A156T exonic ENSG00000205029 NA nonsynonymous SNV ENSG00000205029:ENST00000378396:exon1:c.G466A:p.A156T NA NA 11q11 Score=855;Name=V$AHRARNT_01 NA NA NA rs6591700 0.13 0.13 0.132 0.114018 0.1302 NA 0.0879 0.2761 0.0143 0.13 0.0035 0.09 0.28 0.1148 0.28 0.19 T 0.072 B 0.035 B . . 1.000 P 0.555 N 1.14 T -0.961 T 0.000 T 0.017 1.283 10.19 -2.16 -0.358 -2.639 6.607 1.282917 1.282917 0.35 0.139199 0.261018 NA 0.116 NA 9.9491344 665 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 665 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 665 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 665 21 45750145 45750145 T C exonic C21orf2 NA nonsynonymous SNV C21orf2:NM_001271440:exon7:c.A704G:p.Q235R,C21orf2:NM_001271441:exon7:c.A1064G:p.Q355R,C21orf2:NM_004928:exon7:c.A707G:p.Q236R,C21orf2:NM_001271442:exon8:c.A581G:p.Q194R exonic ENSG00000160226 NA nonsynonymous SNV ENSG00000160226:ENST00000325223:exon7:c.A704G:p.Q235R,ENSG00000160226:ENST00000339818:exon7:c.A707G:p.Q236R,ENSG00000160226:ENST00000397956:exon7:c.A1064G:p.Q355R NA NA 21q22.3 NA Name=Pol2 NA NA rs11552066 0.08 0.08 0.082 0.086262 0.1213 0.0298 0.1657 0.0348 0.1217 0.12 0.02 0.11 0.05 0.1562 0.12 1 T 0.016 B 0.006 B 0.107 N 0.997 P 1.59 L 1.57 T -1.028 T 0.001 T 0.042 1.166 9.745 2.77 0.299 2.749 7.357 1.165795 NA 0 0.109825 0.044037 NA 0.072 NA 9.9460084 665 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 666 9 104335682 104335682 C T exonic GRIN3A NA nonsynonymous SNV GRIN3A:NM_133445:exon9:c.G3122A:p.R1041Q exonic ENSG00000198785 NA nonsynonymous SNV ENSG00000198785:ENST00000361820:exon9:c.G3122A:p.R1041Q NA NA 9q31.1 NA NA NA NA rs3739722 0.19 0.19 0.201 0.186302 0.1173 0.2579 0.2046 0.2171 0.1288 0.13 0.26 0.17 0.23 0.1403 0.26 0.47 T 0.0 B 0.001 B 0.848 N 1.000 P 2.045 M 2.93 T -0.947 T 0.000 T 0.026 1.34 10.4 -3.96 -0.711 -1.991 13.805 1.34025 1.34025 0.43 0.13093 0.211757 NA 0.181 NA 9.9448034 666 2 209190632 209190632 T G exonic PIKFYVE NA nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.T3097G:p.S1033A exonic ENSG00000115020 NA nonsynonymous SNV ENSG00000115020:ENST00000452564:exon19:c.T2929G:p.S977A,ENSG00000115020:ENST00000264380:exon20:c.T3097G:p.S1033A NA NA 2q34 NA NA Name=2 NA rs999890 0.09 0.09 0.068 0.0990415 0.1282 0.0089 0.1081 0.1513 0.0849 0.12 0.0035 0.1 0.14 0.1205 0.14 0.69 T 0.089 B 0.061 B 0.005 N 0.000 P 2.175 M 1.61 T -1.027 T 0.001 T 0.062 0.375 6.037 -0.478 -0.287 2.824 2.562 0.375195 NA 0.01 0.140349 0.14276 NA 0.094 NA 9.9442844 666 3 193334991 193334991 G A exonic OPA1 NA nonsynonymous SNV OPA1:NM_015560:exon4:c.G473A:p.S158N,OPA1:NM_130834:exon4:c.G473A:p.S158N,OPA1:NM_130836:exon4:c.G473A:p.S158N,OPA1:NM_130837:exon4:c.G473A:p.S158N exonic ENSG00000198836 NA nonsynonymous SNV ENSG00000198836:ENST00000361510:exon4:c.G473A:p.S158N,ENSG00000198836:ENST00000361828:exon4:c.G473A:p.S158N,ENSG00000198836:ENST00000361908:exon4:c.G473A:p.S158N,ENSG00000198836:ENST00000392436:exon4:c.G473A:p.S158N,ENSG00000198836:ENST00000392438:exon4:c.G473A:p.S158N,ENSG00000198836:ENST00000419435:exon5:c.G101A:p.S34N Score=533;Name=lod=195 NA 3q29 NA NA NA NA rs7624750 0.46 0.46 0.447 0.468051 0.4573 0.3681 0.4683 0.5847 0.4243 0.46 0.34 0.43 0.6 0.4683 0.6 0.52 T 0.001 B 0.001 B 0.014 N 0.000 P 0.69 N 1.97 T -0.930 T 0.000 T 0.078 0.208 5.124 3.64 0.166 3.435 6.409 0.208417 NA 0.47 0.463829 0.561762 ID=COSM446194;OCCURENCE=1(breast) 0.493 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000081768.1|RCV000127273.1;CLNDSDB=.|.;CLNDSDBID=.|. 9.9439044 666 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 666 11 3381369 3381369 G C exonic ZNF195 NA nonsynonymous SNV ZNF195:NM_007152:exon4:c.C653G:p.P218R,ZNF195:NM_001130519:exon5:c.C800G:p.P267R,ZNF195:NM_001242843:exon5:c.C665G:p.P222R,ZNF195:NM_001256825:exon5:c.C665G:p.P222R,ZNF195:NM_001130520:exon6:c.C869G:p.P290R,ZNF195:NM_001242841:exon6:c.C812G:p.P271R,ZNF195:NM_001242842:exon6:c.C734G:p.P245R,ZNF195:NM_001256824:exon6:c.C758G:p.P253R exonic ENSG00000005801 NA nonsynonymous SNV ENSG00000005801:ENST00000343338:exon4:c.C665G:p.P222R,ENSG00000005801:ENST00000354599:exon4:c.C653G:p.P218R,ENSG00000005801:ENST00000005082:exon5:c.C800G:p.P267R,ENSG00000005801:ENST00000399602:exon6:c.C869G:p.P290R,ENSG00000005801:ENST00000429541:exon6:c.C665G:p.P222R,ENSG00000005801:ENST00000526601:exon6:c.C812G:p.P271R,ENSG00000005801:ENST00000528410:exon6:c.C734G:p.P245R Score=389;Name=lod=51 NA 11p15.4 NA NA NA NA rs62619253 0.22 0.22 0.21 0.223842 0.1093 0.4067 0.1167 0.1808 0.2873 0.11 0.45 0.13 0.17 0.1672 0.45 0 D 0.048 B 0.023 B . . 0.000 P 0.135 N 3.41 T -0.925 T 0.000 T 0.148 -0.963 0.319 1.11 -0.436 2.870 5.037 -0.963046 NA 0 0.113571 0.16378 NA 0.159 NA 9.9432624 666 19 18376522 18376522 T G exonic KIAA1683 NA nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.A1828C:p.T610P,KIAA1683:NM_001145305:exon3:c.A1690C:p.T564P,KIAA1683:NM_025249:exon3:c.A1828C:p.T610P exonic ENSG00000130518 NA nonsynonymous SNV ENSG00000130518:ENST00000392413:exon3:c.A1828C:p.T610P,ENSG00000130518:ENST00000600328:exon3:c.A1828C:p.T610P,ENSG00000130518:ENST00000600359:exon3:c.A1690C:p.T564P NA NA 19p13.11 NA NA Name=2 NA rs2277922 0.55 0.55 0.556 0.561102 0.4533 0.5516 0.6052 0.7307 0.4213 0.45 0.52 0.54 0.72 0.4931 0.72 1 T 0.0 B 0.0 B 0.714 N 1.000 P -1.5 N 4.12 T -0.967 T 0.000 T 0.072 -1.141 0.109 -4.38 -1.210 -1.257 0.695 -1.141439 NA 1 0.443837 0.705629 ID=COSM1600361,COSM1600360;OCCURENCE=1(central_nervous_system) 0.522 NA 9.9430964 666 6 35960390 35960390 C T exonic SLC26A8 NA nonsynonymous SNV SLC26A8:NM_001193476:exon6:c.G689A:p.S230N,SLC26A8:NM_052961:exon6:c.G689A:p.S230N exonic ENSG00000112053 NA nonsynonymous SNV ENSG00000112053:ENST00000355574:exon6:c.G689A:p.S230N,ENSG00000112053:ENST00000490799:exon6:c.G689A:p.S230N Score=329;Name=lod=29 NA 6p21.31 NA NA NA NA rs17707331 0.1 0.1 0.095 0.0894569 0.1402 0.0506 0.1383 0.0325 0.1196 0.14 0.06 0.17 0.04 0.1184 0.17 0.3 T 0.031 B 0.027 B 0.014 N 0.000 P 0.825 L -3.3 D -0.713 T 0.388 T 0.021 -1.328 0.032 3.26 0.501 -0.214 4.190 -1.328172 NA 1 0.132907 0.042669 NA 0.101 NA 9.9418264 666 20 31652596 31652596 C T exonic BPIFB3 NA nonsynonymous SNV BPIFB3:NM_182658:exon8:c.C869T:p.T290M exonic ENSG00000186190 NA nonsynonymous SNV ENSG00000186190:ENST00000375494:exon8:c.C869T:p.T290M Score=437;Name=lod=80 NA 20q11.21 NA NA NA NA rs2093066 0.12 0.12 0.127 0.115415 0.1322 0.0466 0.0865 0.2141 0.0562 0.14 0.05 0.1 0.19 0.1153 0.2 0.08 T 0.0 B 0.0 B 0.037 N 1.000 P 0 N 3.18 T -0.956 T 0.000 T 0.072 0.764 8.04 4.73 0.848 2.297 7.141 0.763733 NA 0.11 0.145233 0.204267 NA 0.138 NA 9.9406004 666 6 170627797 170627797 A G exonic FAM120B NA nonsynonymous SNV FAM120B:NM_032448:exon2:c.A1319G:p.Y440C exonic ENSG00000112584 NA nonsynonymous SNV ENSG00000112584:ENST00000366751:exon2:c.A1319G:p.Y440C,ENSG00000112584:ENST00000476287:exon2:c.A1319G:p.Y440C,ENSG00000112584:ENST00000537664:exon2:c.A1388G:p.Y463C,ENSG00000112584:ENST00000540480:exon2:c.A1355G:p.Y452C NA NA 6q27 NA NA NA NA rs9366138 0.14 0.14 0.129 0.129393 0.1252 0.1885 0.1412 0.0711 0.1431 0.13 0.22 0.12 0.1 0.129 0.22 0.07 T 0.0 B 0.0 B 0.311 N 1.000 P -1.955 N 3.16 T -0.911 T 0.001 T 0.067 -0.645 1.156 -3.95 -1.599 -3.621 1.112 -0.645179 NA NA 0.139535 0.088516 NA NA NA 9.9395984 666 7 2854010 2854010 G A intronic GNA12 NA NA NA exonic ENSG00000146535 NA nonsynonymous SNV ENSG00000146535:ENST00000407904:exon2:c.C68T:p.T23I NA NA 7p22.2 NA NA Name=10 NA rs2644275 0.35 0.35 0.34 0.333466 0.3986 0.2321 0.4741 0.3434 0.2577 0.42 0.21 0.48 0.33 0.3999 0.48 0 D 0.0 B 0.0 B . . 1.000 P . . -2.09 D -1.017 T 0.000 T 0.03 0.399 6.169 -1.31 -0.982 -1.029 6.590 0.399413 NA 0 0.430186 0.354452 NA 0.435 NA 9.9379807 666 8 133723166 133723166 A G UTR3 TMEM71 NM_001145153:c.*47T>C,NM_144649:c.*47T>C NA NA exonic ENSG00000165071 NA nonsynonymous SNV ENSG00000165071:ENST00000523829:exon9:c.T877C:p.W293R NA NA 8q24.22 NA NA Name=2 NA rs1895807 0.6 0.6 0.656 0.578874 0.4513 0.5992 0.3646 0.9319 0.364 0.46 0.63 0.4 0.92 0.4784 0.92 0 D . . . . . . 1.000 P . . . . -1.047 T 0.000 T 0.035 0.232 5.252 -7.07 -1.963 -3.027 11.215 0.231929 NA NA 0.466047 0.848842 NA 0.659 NA 9.9375864 666 14 64612858 64612858 C A exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon84:c.C15556A:p.L5186M,SYNE2:NM_182914:exon84:c.C15556A:p.L5186M exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000555612:exon4:c.C442A:p.L148M,ENSG00000054654:ENST00000394768:exon32:c.C4711A:p.L1571M,ENSG00000054654:ENST00000555002:exon35:c.C5458A:p.L1820M,ENSG00000054654:ENST00000554584:exon82:c.C15307A:p.L5103M,ENSG00000054654:ENST00000344113:exon84:c.C15556A:p.L5186M,ENSG00000054654:ENST00000358025:exon84:c.C15556A:p.L5186M,ENSG00000054654:ENST00000357395:exon85:c.C4711A:p.L1571M Score=491;Name=lod=132 NA 14q23.2 NA NA NA NA rs10151658 0.61 0.61 0.637 0.631789 0.4553 0.6429 0.513 0.9168 0.501 0.45 0.64 0.51 0.91 0.5031 0.91 0.53 T 0.027 B 0.017 B 0.326 N 0.000 P -0.035 N 3.78 T -1.009 T 0.000 T 0.112 -0.361 2.298 -2.1 -1.072 -0.595 12.081 -0.360858 NA 0.44 0.438488 0.849977 ID=COSM1128226;OCCURENCE=1(prostate) 0.514 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118520.1;CLNDSDB=.;CLNDSDBID=. 9.9364454 666 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 666 11 1263776 1263776 C T exonic MUC5B NA nonsynonymous SNV MUC5B:NM_002458:exon31:c.C5666T:p.P1889L exonic ENSG00000117983 NA nonsynonymous SNV ENSG00000117983:ENST00000447027:exon31:c.C5675T:p.P1892L,ENSG00000117983:ENST00000529681:exon31:c.C5666T:p.P1889L NA NA 11p15.5 NA NA NA NA rs2943510 0.12 0.12 0.107 0.11881 0.1312 0.0526 0.2147 0.0998 0.1319 0.14 0.08 0.2 0.09 0.142 0.2 0 D 0.252 B 0.022 B . . 1.000 P 0.345 N 2.34 T -1.018 T 0.000 T 0.042 1.504 10.98 2.72 1.534 0.339 9.196 1.504368 1.504368 NA 0.124679 0.096163 NA 0.174 NA 9.9354544 666 4 88412806 88412806 T C exonic SPARCL1 NA nonsynonymous SNV SPARCL1:NM_004684:exon5:c.A1255G:p.T419A,SPARCL1:NM_001128310:exon6:c.A1255G:p.T419A exonic ENSG00000152583 NA nonsynonymous SNV ENSG00000152583:ENST00000282470:exon5:c.A1255G:p.T419A,ENSG00000152583:ENST00000418378:exon6:c.A1255G:p.T419A,ENSG00000152583:ENST00000503414:exon6:c.A880G:p.T294A NA NA 4q22.1 NA Name=Max NA NA rs1130643 0.2 0.2 0.192 0.219848 0.1243 0.1538 0.1311 0.5061 0.0624 0.13 0.12 0.14 0.43 0.1438 0.45 0.81 T 0.001 B 0.0 B 0.459 N 1.000 P 0.345 N -2.5 D -1.031 T 0.000 T 0.019 0.144 4.774 -4.28 -0.779 -0.309 1.818 0.143962 NA 0.22 0.13 0.453473 NA 0.348 NA 9.9352334 667 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 667 3 56658871 56658871 T C exonic FAM208A NA nonsynonymous SNV FAM208A:NM_015224:exon15:c.A2992G:p.I998V,FAM208A:NM_001112736:exon22:c.A4303G:p.I1435V exonic ENSG00000163946 NA nonsynonymous SNV ENSG00000163946:ENST00000431842:exon15:c.A2992G:p.I998V,ENSG00000163946:ENST00000355628:exon21:c.A4120G:p.I1374V,ENSG00000163946:ENST00000493960:exon22:c.A4303G:p.I1435V Score=577;Name=lod=294 NA 3p14.3 NA NA Name=60 NA rs2291498 0.23 0.23 0.202 0.292332 0.1054 0.377 0.1744 0.326 0.4356 0.09 0.36 0.18 0.34 0.1904 0.36 0.6 T 0.013 B 0.02 B 0.001 N 0.999 P 0.695 N 0.86 T -0.950 T 0.000 T 0.08 0.444 6.411 1.82 0.982 -0.123 5.646 0.443887 NA 0.52 0.103023 0.320018 NA 0.217 NA 9.9345104 667 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 667 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 667 19 9057721 9057721 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.G29725A:p.V9909I exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G29725A:p.V9909I NA NA 19p13.2 NA NA NA NA rs2216662 0.46 0.46 0.448 0.442093 0.4732 0.5635 0.4856 0.2852 0.4663 0.47 0.57 0.49 0.3 0.4561 0.57 0 D 0.05 B 0.014 B . . . . 0.55 N 4.3 T -0.961 T 0.000 T 0.038 0.281 5.518 -4.85 -1.826 -1.382 0.345 0.280553 NA 0.15 0.470716 0.300406 NA 0.413 NA 9.9333174 667 19 9058942 9058942 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.G28504A:p.A9502T exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G28504A:p.A9502T NA NA 19p13.2 NA NA NA NA rs1833778 0.47 0.47 0.451 0.439497 0.4742 0.5546 0.487 0.2829 0.4632 0.47 0.56 0.49 0.34 0.4557 0.56 0 D 0.0 B 0.0 B . . . . . . 2.17 T -0.947 T 0.000 T 0.008 -0.318 2.488 -4.58 -3.882 -2.608 2.058 -0.318202 NA 0.15 0.470532 0.312531 NA 0.413 NA 9.9329014 667 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=EBF1_(C-8),E2F6_(H-50) 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 667 17 27284443 27284443 A G exonic SEZ6 NA nonsynonymous SNV SEZ6:NM_001098635:exon12:c.T2417C:p.M806T,SEZ6:NM_178860:exon12:c.T2417C:p.M806T exonic ENSG00000063015 NA nonsynonymous SNV ENSG00000063015:ENST00000540632:exon11:c.T2195C:p.M732T,ENSG00000063015:ENST00000317338:exon12:c.T2417C:p.M806T,ENSG00000063015:ENST00000360295:exon12:c.T2417C:p.M806T,ENSG00000063015:ENST00000442608:exon12:c.T2417C:p.M806T Score=607;Name=lod=392 NA 17q11.2 NA NA NA NA rs12941884 0.14 0.14 0.133 0.190495 0.1213 0.123 0.1859 0.2224 0.2914 0.13 0.1 0.15 0.21 0.1554 0.21 0.68 T 0.0 B 0.0 B 0.000 N 0.000 P -1.04 N -0.11 T -1.072 T 0.000 T 0.313 -0.595 1.337 3.65 0.763 2.085 8.026 -0.595139 NA 0.74 0.124428 0.197901 NA 0.261 NA 9.9322054 667 4 154514965 154514965 T C exonic KIAA0922 NA nonsynonymous SNV KIAA0922:NM_001131007:exon19:c.T1937C:p.M646T,KIAA0922:NM_015196:exon19:c.T1934C:p.M645T exonic ENSG00000121210 NA nonsynonymous SNV ENSG00000121210:ENST00000240487:exon13:c.T1268C:p.M423T,ENSG00000121210:ENST00000440693:exon17:c.T1685C:p.M562T,ENSG00000121210:ENST00000409663:exon19:c.T1934C:p.M645T,ENSG00000121210:ENST00000409959:exon19:c.T1937C:p.M646T Score=500;Name=lod=144 NA 4q31.3 Score=810;Name=V$OCT_C NA NA NA rs17370297 0.26 0.26 0.242 0.226238 0.3072 0.2371 0.2161 0.149 0.2434 0.32 0.27 0.26 0.14 0.2842 0.32 0.58 T 0.527 P 0.249 B 0.011 N 0.961 P 1.01 L 2.57 T -0.922 T 0.000 T 0.086 -0.531 1.584 2.94 0.442 0.795 5.010 -0.530847 NA 0.24 0.310581 0.180209 ID=COSM149746;OCCURENCE=1(stomach) 0.232 NA 9.9313524 667 20 60987737 60987737 C T exonic RBBP8NL NA nonsynonymous SNV RBBP8NL:NM_080833:exon13:c.G1819A:p.E607K exonic ENSG00000130701 NA nonsynonymous SNV ENSG00000130701:ENST00000252998:exon13:c.G1819A:p.E607K NA NA 20q13.33 NA Name=HNF4A,ELF1_(SC-631),HEY1 Name=5 NA rs6089366 0.08 0.08 0.068 0.0585064 0.1421 NA 0.1196 0.0356 0.0204 0.14 NA 0.14 0.04 0.1062 0.15 0.33 T 0.056 B 0.013 B 0.603 N 1.000 P 1.445 L 2.01 T -1.038 T 0.000 T 0.089 1.778 11.9 2.3 0.645 0.226 8.734 1.778096 1.778096 0.09 0.154419 0.062244 NA 0.058 NA 9.9306144 667 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 667 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 668 19 12541547 12541547 T G exonic ZNF443 NA nonsynonymous SNV ZNF443:NM_005815:exon4:c.A1439C:p.K480T exonic ENSG00000180855 NA nonsynonymous SNV ENSG00000180855:ENST00000301547:exon4:c.A1439C:p.K480T NA NA 19p13.2 NA NA NA NA rs10402252 0.33 0.33 0.281 0.261182 0.496 0.1071 0.4207 0.171 0.1871 0.52 0.1 0.44 0.2 0.4114 0.52 0.02 D 0.988 D 0.93 D . . 1.000 P 0.275 N 2.16 T -0.929 T 0.000 T 0.095 1.559 11.17 1.26 0.841 -1.386 4.260 1.558917 1.558917 0 0.502674 0.215584 NA 0.355 NA 9.9232594 668 20 20150027 20150027 C T exonic C20orf26 NA synonymous SNV C20orf26:NM_001167816:exon12:c.C1308T:p.N436N,C20orf26:NM_015585:exon13:c.C1308T:p.N436N exonic ENSG00000089101 NA synonymous SNV ENSG00000089101:ENST00000451767:exon12:c.C1308T:p.N436N,ENSG00000089101:ENST00000245957:exon13:c.C1308T:p.N436N,ENSG00000089101:ENST00000377306:exon13:c.C1308T:p.N436N Score=467;Name=lod=105 NA 20p11.23 NA NA NA NA rs6075630 0.14 0.14 0.137 0.139776 0.2664 0.0407 0.1254 0.0371 0.2607 0.27 0.04 0.12 0.04 0.2139 0.27 . . . . . . . . 0.000 P . . . . -1.039 T 0.000 T . 0.668 7.575 3.59 1.625 0.958 8.897 0.667501 NA NA 0.26593 0.062869 NA 0.196 NA 9.9204366 668 2 10101468 10101468 A G exonic GRHL1 NA nonsynonymous SNV GRHL1:NM_198182:exon4:c.A572G:p.N191S exonic ENSG00000134317 NA nonsynonymous SNV ENSG00000134317:ENST00000324883:exon4:c.A82G:p.I28V,ENSG00000134317:ENST00000324907:exon4:c.A572G:p.N191S,ENSG00000134317:ENST00000472167:exon4:c.A572G:p.N191S,ENSG00000134317:ENST00000405379:exon5:c.A572G:p.N191S,ENSG00000134317:ENST00000464418:exon5:c.A581G:p.N194S NA NA 2p25.1 NA Name=GATA-1 NA NA rs16867256 0.16 0.16 0.182 0.176318 0.1461 0.0119 0.1052 0.438 0.0736 0.14 0.01 0.1 0.4 0.1322 0.4 0.53 T 0.0 B 0.0 B 0.085 N 1.000 P 0 N 2.8 T -0.954 T 0.000 T 0.004 -0.925 0.388 -8.89 -2.729 -0.411 10.473 -0.924831 NA 0.66 0.134884 0.36246 NA 0.203 NA 9.9201494 668 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 668 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=SETDB1,KAP1 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 668 3 170078232 170078232 C T exonic SKIL NA nonsynonymous SNV SKIL:NM_001145097:exon1:c.C113T:p.A38V,SKIL:NM_001248008:exon1:c.C113T:p.A38V,SKIL:NM_005414:exon2:c.C113T:p.A38V,SKIL:NM_001145098:exon3:c.C53T:p.A18V exonic ENSG00000136603 NA nonsynonymous SNV ENSG00000136603:ENST00000413427:exon1:c.C113T:p.A38V,ENSG00000136603:ENST00000458537:exon1:c.C113T:p.A38V,ENSG00000136603:ENST00000259119:exon2:c.C113T:p.A38V,ENSG00000136603:ENST00000426052:exon3:c.C53T:p.A18V,ENSG00000136603:ENST00000476188:exon3:c.C113T:p.A38V Score=407;Name=lod=60 NA 3q26.2 NA Name=Mxi1_(bHLH) NA NA rs3772173 0.74 0.74 0.705 0.690296 0.8161 0.8383 0.8228 0.4281 0.6687 0.82 0.85 0.82 0.42 0.7803 0.85 1 T 0.001 B 0.002 B 0.002 N 0.595 P -0.29 N 0.26 T -0.902 T 0.000 T 0.052 -0.302 2.56 4.42 2.773 2.137 4.104 -0.302084 NA 0.76 0.820233 0.524285 NA 0.717 NA 9.9167004 669 5 78421959 78421959 G A exonic BHMT NA nonsynonymous SNV BHMT:NM_001713:exon6:c.G716A:p.R239Q exonic ENSG00000145692 NA nonsynonymous SNV ENSG00000145692:ENST00000524080:exon3:c.G257A:p.R86Q,ENSG00000145692:ENST00000274353:exon6:c.G716A:p.R239Q NA NA 5q14.1 NA NA NA NA rs3733890 0.3 0.3 0.268 0.290735 0.3231 0.3155 0.3775 0.2035 0.2883 0.31 0.3 0.35 0.25 0.2953 0.35 0.3 T 0.78 P 0.064 B 0.070 N 0.129 P 0 N 1.57 T -0.936 T 0.000 T 0.066 2.512 14.36 3.51 1.533 2.821 4.661 2.512207 2.512207 0.06 0.300465 0.222424 NA 0.21 NA 9.9144684 669 22 21386019 21386019 G A exonic SLC7A4 NA nonsynonymous SNV SLC7A4:NM_004173:exon2:c.C83T:p.T28I exonic ENSG00000099960 NA nonsynonymous SNV ENSG00000099960:ENST00000382932:exon2:c.C83T:p.T28I,ENSG00000099960:ENST00000403586:exon2:c.C83T:p.T28I,ENSG00000099960:ENST00000426145:exon2:c.C83T:p.T28I NA NA 22q11.21 NA NA NA NA rs2072550 0.27 0.27 0.243 0.330072 0.1093 0.5446 0.2507 0.3396 0.3793 0.1 0.5 0.22 0.3 0.2083 0.5 0.18 T 0.073 B 0.043 B 0.065 N 1.000 P 2.255 M 1.5 T -0.954 T 0.000 T 0.154 1.282 10.19 -2.36 -0.167 2.623 11.613 1.282348 1.282348 0.29 0.101977 0.297322 ID=COSM444745;OCCURENCE=1(breast) 0.239 NA 9.9137564 669 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 669 3 49936102 49936102 T C exonic MST1R NA nonsynonymous SNV MST1R:NM_001244937:exon4:c.A1568G:p.Q523R,MST1R:NM_002447:exon4:c.A1568G:p.Q523R exonic ENSG00000164078 NA nonsynonymous SNV ENSG00000164078:ENST00000296474:exon4:c.A1568G:p.Q523R,ENSG00000164078:ENST00000344206:exon4:c.A1568G:p.Q523R,ENSG00000164078:ENST00000411578:exon4:c.A1568G:p.Q523R NA NA 3p21.31 NA NA Name=5 NA rs2230590 0.42 0.42 0.415 0.416534 0.497 0.1429 0.3761 0.7368 0.2117 0.48 0.14 0.36 0.69 0.4172 0.69 0.93 T 0.0 B 0.003 B 0.108 N 1.000 P 1.065 L 3.01 T -0.975 T 0.000 T 0.02 -2.227 0.005 -6.78 -1.703 -1.163 7.547 -2.227231 NA 0.77 0.505814 0.667499 NA 0.406 NA 9.9133194 669 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 669 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 669 3 49924940 49924940 T C exonic MST1R NA nonsynonymous SNV MST1R:NM_001244937:exon19:c.A3856G:p.R1286G,MST1R:NM_002447:exon20:c.A4003G:p.R1335G exonic ENSG00000164078 NA nonsynonymous SNV ENSG00000164078:ENST00000344206:exon19:c.A3856G:p.R1286G,ENSG00000164078:ENST00000296474:exon20:c.A4003G:p.R1335G NA NA 3p21.31 NA NA NA NA rs1062633 0.42 0.42 0.441 0.419129 0.498 0.1438 0.3761 0.7443 0.2127 0.48 0.14 0.36 0.7 0.418 0.7 0.31 T 0.0 B 0.0 B 0.274 N 1.000 P 0.645 N -1.68 D -0.969 T 0.000 T 0.064 -1.688 0.012 -4.24 -1.356 -3.031 4.163 -1.688274 NA 0.53 0.506047 0.673854 NA 0.413 NA 9.9112864 669 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 669 8 144621091 144621091 A T exonic ZC3H3 NA nonsynonymous SNV ZC3H3:NM_015117:exon2:c.T446A:p.F149Y exonic ENSG00000014164 NA nonsynonymous SNV ENSG00000014164:ENST00000262577:exon2:c.T446A:p.F149Y NA NA 8q24.3 NA NA NA NA rs3750206 0.15 0.15 0.155 0.161142 0.1501 0.1329 0.1729 0.1619 0.1922 0.16 0.15 0.16 0.15 0.1449 0.17 1 T 0.0 B 0.0 B 0.578 N 1.000 P -1.1 N 4.24 T -0.960 T 0.000 T 0.042 -1.4 0.023 -6.68 -2.133 -1.738 2.290 -1.400287 NA 1 0.129393 0.125398 NA 0.13 NA 9.9089404 669 3 102157365 102157365 A T exonic ZPLD1 NA nonsynonymous SNV ZPLD1:NM_175056:exon2:c.A82T:p.I28F exonic ENSG00000170044 NA nonsynonymous SNV ENSG00000170044:ENST00000306176:exon2:c.A82T:p.I28F,ENSG00000170044:ENST00000466937:exon3:c.A34T:p.I12F,ENSG00000170044:ENST00000491959:exon9:c.A34T:p.I12F Score=607;Name=lod=390 NA 3q12.3 NA NA NA NA rs6784362 0.1 0.1 0.072 0.0966454 0.1372 0.0357 0.1585 0.09 0.0828 0.14 0.03 0.16 0.08 0.1333 0.16 0.67 T 0.0 B 0.0 B 0.004 N 0.252 P 0 N -1.4 T -1.097 T 0.001 T 0.082 1.491 10.93 3.81 0.723 1.147 6.171 1.490772 1.490772 0.14 0.154651 0.091693 NA 0.087 NA 9.9081824 669 3 102157417 102157417 A G exonic ZPLD1 NA nonsynonymous SNV ZPLD1:NM_175056:exon2:c.A134G:p.N45S exonic ENSG00000170044 NA nonsynonymous SNV ENSG00000170044:ENST00000306176:exon2:c.A134G:p.N45S,ENSG00000170044:ENST00000466937:exon3:c.A86G:p.N29S,ENSG00000170044:ENST00000491959:exon9:c.A86G:p.N29S Score=607;Name=lod=390 NA 3q12.3 Score=743;Name=V$TAXCREB_02 NA NA NA rs6784389 0.1 0.1 0.094 0.0966454 0.1372 0.0357 0.1599 0.09 0.0818 0.14 0.03 0.16 0.08 0.1336 0.16 0.46 T 0.047 B 0.015 B 0.000 N 0.000 P 1.1 L -1.43 T -1.091 T 0.002 T 0.003 1.483 10.91 1.48 0.019 2.667 5.820 1.483079 1.483079 0.08 0.154651 0.09192 NA 0.087 NA 9.9078824 670 6 33690796 33690796 C T exonic IP6K3 NA nonsynonymous SNV IP6K3:NM_054111:exon6:c.G934A:p.V312I,IP6K3:NM_001142883:exon7:c.G934A:p.V312I exonic ENSG00000161896 NA nonsynonymous SNV ENSG00000161896:ENST00000293756:exon6:c.G934A:p.V312I,ENSG00000161896:ENST00000451316:exon7:c.G934A:p.V312I Score=429;Name=lod=74 NA 6p21.31 NA NA NA NA rs4713668 0.41 0.41 0.414 0.51258 0.4702 0.8442 0.5778 0.1021 0.7229 0.37 0.71 0.49 0.08 0.5258 0.71 0.39 T 0.362 B 0.166 B 0.001 N 0.127 P 1.28 L 2.25 T -1.015 T 0.017 T 0.047 2.578 14.58 5.12 1.534 4.011 11.866 2.577765 2.577765 0.02 0.434186 0.17862 NA NA NA 9.9031474 670 8 70980738 70980738 T C exonic PRDM14 NA nonsynonymous SNV PRDM14:NM_024504:exon3:c.A730G:p.K244E exonic ENSG00000147596 NA nonsynonymous SNV ENSG00000147596:ENST00000276594:exon3:c.A730G:p.K244E Score=349;Name=lod=35 NA 8q13.3 NA NA NA NA rs3750228 0.19 0.19 0.16 0.199481 0.1362 0.2956 0.2507 0.1649 0.1759 0.13 0.23 0.24 0.19 0.1641 0.24 0.26 T 0.007 B 0.003 B 0.083 N 0.942 P 2.075 M 2.74 T -0.996 T 0.000 T 0.037 2.606 14.68 1.3 0.064 0.981 8.168 2.606447 2.606447 0.25 0.131047 0.158874 NA 0.174 NA 9.9019864 670 12 53670545 53670545 C A exonic ESPL1 NA nonsynonymous SNV ESPL1:NM_012291:exon8:c.C1842A:p.S614R exonic ENSG00000135476 NA nonsynonymous SNV ENSG00000135476:ENST00000257934:exon8:c.C1842A:p.S614R,ENSG00000135476:ENST00000552462:exon8:c.C1842A:p.S614R Score=567;Name=lod=268 NA 12q13.13 NA NA NA NA rs1318648 0.62 0.62 0.606 0.633187 0.6372 0.8194 0.5994 0.4024 0.773 0.62 0.81 0.61 0.41 0.6561 0.81 0.11 T 0.998 D 0.896 P 0.000 D 0.946 P 2.08 M 2.53 T -1.062 T 0.000 T 0.388 3.224 16.8 1.25 0.341 -0.161 8.705 3.223939 3.223939 0.13 0.638785 0.42828 NA 0.551 NA 9.9012484 670 13 28537317 28537317 G A exonic CDX2 NA nonsynonymous SNV CDX2:NM_001265:exon3:c.C877T:p.P293S exonic ENSG00000165556 NA nonsynonymous SNV ENSG00000165556:ENST00000381020:exon3:c.C877T:p.P293S Score=417;Name=lod=66 NA 13q12.2 Score=762;Name=V$PAX6_01 NA NA NA rs1805107 0.73 0.73 0.706 0.725639 0.8151 0.8155 0.7305 0.4576 0.8998 0.8 0.82 0.76 0.47 0.8022 0.82 0.35 T 0.437 B 0.08 B 0.061 N 0.992 P 0.805 L -2.69 D -0.929 T 0.000 T 0.214 2.654 14.83 2.32 0.160 1.340 2.277 2.653742 2.653742 0.27 0.814884 0.499773 NA 0.688 NA 9.9011494 670 1 103354138 103354138 A G exonic COL11A1 NA nonsynonymous SNV COL11A1:NM_080630:exon60:c.T4255C:p.S1419P,COL11A1:NM_001190709:exon61:c.T4486C:p.S1496P,COL11A1:NM_001854:exon62:c.T4603C:p.S1535P,COL11A1:NM_080629:exon62:c.T4639C:p.S1547P exonic ENSG00000060718 NA nonsynonymous SNV ENSG00000060718:ENST00000512756:exon60:c.T4255C:p.S1419P,ENSG00000060718:ENST00000353414:exon61:c.T4486C:p.S1496P,ENSG00000060718:ENST00000358392:exon62:c.T4639C:p.S1547P,ENSG00000060718:ENST00000370096:exon62:c.T4603C:p.S1535P Score=597;Name=lod=356 NA 1p21.1 NA NA NA NA rs1676486 0.82 0.82 0.798 0.782947 0.83 0.748 0.8948 0.8048 0.6616 0.83 0.77 0.88 0.8 0.7942 0.88 1 T 0.0 B 0.0 B 0.000 N 0.601 P -2.21 N -3.42 D -0.805 T 0.204 T 0.157 1.615 11.36 5.67 1.420 6.349 14.890 1.614595 1.614595 1 0.811279 0.798684 NA 0.688 NA 9.8978544 670 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 671 15 100692845 100692845 A G exonic ADAMTS17 NA nonsynonymous SNV ADAMTS17:NM_139057:exon10:c.T1445C:p.M482T exonic ENSG00000140470 NA nonsynonymous SNV ENSG00000140470:ENST00000268070:exon10:c.T1445C:p.M482T Score=619;Name=lod=437 NA 15q26.3 NA NA NA NA rs28567966 0.13 0.13 0.136 0.145767 0.1441 0.0665 0.0865 0.2005 0.1973 0.14 0.07 0.1 0.22 0.1456 0.22 0.74 T 0.0 B 0.0 B 0.001 N 1.000 P -0.995 N 3.92 T -0.927 T 0.000 T 0.038 -1.16 0.095 2.64 0.043 2.515 8.434 -1.160366 NA 1 0.148721 0.199955 NA 0.217 NA 9.8949124 671 1 16371067 16371067 G T exonic CLCNKB NA nonsynonymous SNV CLCNKB:NM_000085:exon2:c.G80T:p.R27L exonic ENSG00000184908 NA nonsynonymous SNV ENSG00000184908:ENST00000375679:exon2:c.G80T:p.R27L Score=486;Name=lod=126 NA 1p36.13 NA NA NA NA rs2015352 0.6 0.6 0.595 0.555511 0.6561 0.6498 0.6916 0.2549 0.6646 0.67 0.71 0.7 0.29 0.6413 0.71 0.22 T 0.468 P 0.162 B 0.094 N 0.000 P 2.14 M -1.92 D -0.903 T 0.000 T 0.16 2.471 14.22 3.16 0.817 -0.467 6.147 2.470803 2.470803 0.01 0.642209 0.300045 NA 0.514 NA 9.8937244 671 7 48506642 48506642 A G exonic ABCA13 NA nonsynonymous SNV ABCA13:NM_152701:exon44:c.A12905G:p.Q4302R exonic ENSG00000179869 NA nonsynonymous SNV ENSG00000179869:ENST00000435803:exon44:c.A12905G:p.Q4302R NA NA 7p12.3 NA NA NA NA rs4917153 0.23 0.23 0.192 0.230631 0.1491 0.2163 0.2594 0.3525 0.1442 0.16 0.22 0.25 0.32 0.1703 0.32 0.56 T 0.0 B 0.001 B 0.049 N 0.000 P -0.205 N -1.96 D -1.082 T 0.000 T 0.249 0.524 6.84 -4.24 -0.497 -1.436 4.495 0.524274 NA 0.71 0.120499 0.29124 NA 0.196 NA 9.8934344 671 1 109268441 109268441 G A exonic FNDC7 NA nonsynonymous SNV FNDC7:NM_001144937:exon6:c.G926A:p.S309N exonic ENSG00000143107 NA nonsynonymous SNV ENSG00000143107:ENST00000271311:exon5:c.G929A:p.S310N,ENSG00000143107:ENST00000370017:exon6:c.G926A:p.S309N NA NA 1p13.3 NA NA NA NA rs11582005 0.17 0.17 0.197 0.169529 0.1412 0.0992 0.0865 0.3215 0.1247 0.15 0.1 0.09 0.33 0.1478 0.33 0.3 T 0.0 B 0.001 B 0.288 N 1.000 P 0.55 N 1.92 T -1.021 T 0.012 T 0.058 -0.577 1.406 -8.02 -2.225 -1.892 14.254 -0.576763 NA 0.84 0.151279 0.296868 ID=COSM146569;OCCURENCE=1(stomach) 0.145 NA 9.8930544 671 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$RORA1_01 NA NA NA rs17215589 0.09 0.09 0.094 0.0814696 0.166 0.002 0.0879 0.0552 0.1074 0.18 0.0035 0.08 0.06 0.1241 0.18 1 T 0.001 B 0.002 B 0.002 N 0.000 P -0.49 N -0.19 T -1.056 T 0.000 T 0.075 -0.314 2.507 2.31 -0.047 -0.189 4.546 -0.313897 NA 1 0.150376 0.065735 NA 0.13 NA 9.8928574 671 2 138420996 138420996 A G exonic THSD7B NA unknown UNKNOWN exonic ENSG00000144229 NA nonsynonymous SNV ENSG00000144229:ENST00000272643:exon26:c.A4511G:p.K1504R,ENSG00000144229:ENST00000409968:exon26:c.A4502G:p.K1501R,ENSG00000144229:ENST00000413152:exon26:c.A4418G:p.K1473R Score=623;Name=lod=454 NA 2q22.1 Score=885;Name=V$OCT1_03 NA NA NA rs10206850 0.58 0.58 0.576 0.58726 0.5606 0.5536 0.5418 0.6558 0.589 0.57 0.56 0.54 0.65 0.6256 0.65 0.95 T 0.0 B 0.0 B 0.000 N 0.000 P -1.61 N 2.51 T -0.963 T 0.000 T 0.542 1.459 10.82 6.02 1.580 5.419 15.622 1.458867 1.458867 0.69 0.587777 0.636073 NA 0.536 NA 9.8926897 671 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 671 12 66786091 66786091 G C exonic GRIP1 NA nonsynonymous SNV GRIP1:NM_001178074:exon18:c.C2305G:p.Q769E,GRIP1:NM_021150:exon18:c.C2305G:p.Q769E exonic ENSG00000155974 NA nonsynonymous SNV ENSG00000155974:ENST00000536215:exon16:c.C1981G:p.Q661E,ENSG00000155974:ENST00000540433:exon17:c.C2137G:p.Q713E,ENSG00000155974:ENST00000398016:exon18:c.C2305G:p.Q769E,ENSG00000155974:ENST00000538211:exon18:c.C2305G:p.Q769E,ENSG00000155974:ENST00000286445:exon19:c.C2461G:p.Q821E,ENSG00000155974:ENST00000359742:exon19:c.C2461G:p.Q821E Score=387;Name=lod=50 NA 12q14.3 NA NA NA NA rs13277 0.86 0.86 0.855 0.84365 0.997 0.9296 0.8473 0.5492 0.9928 1 0.92 0.85 0.59 0.9494 1 . . 0.808 P 0.364 B 0.008 N 0.000 P 2.215 M -1.18 T -1.025 T 0.000 T 0.265 0.957 8.906 4.47 2.486 7.309 17.700 0.957488 NA 0.39 0.996882 0.669212 NA 0.841 NA 9.8900514 671 4 13615174 13615174 G A exonic BOD1L1 NA nonsynonymous SNV BOD1L1:NM_148894:exon5:c.C1286T:p.T429M exonic ENSG00000038219 NA nonsynonymous SNV ENSG00000038219:ENST00000040738:exon5:c.C1286T:p.T429M NA NA 4p15.33 NA NA Name=3 NA rs2035820 0.12 0.12 0.124 0.13738 0.1501 0.003 0.2147 0.1558 0.183 0.15 NA 0.2 0.17 0.1455 0.2 0.32 T 0.0 B 0.0 B 0.253 N 1.000 P -1.245 N 3.31 T -0.928 T 0.000 T 0.036 -1.475 0.018 3.99 0.387 2.391 9.655 -1.474986 NA 0.67 0.150581 0.156832 NA 0.116 NA 9.8871524 671 11 85692181 85692181 A C exonic PICALM NA synonymous SNV PICALM:NM_001008660:exon16:c.T1620G:p.A540A,PICALM:NM_001206947:exon16:c.T1467G:p.A489A,PICALM:NM_001206946:exon17:c.T1749G:p.A583A,PICALM:NM_007166:exon17:c.T1770G:p.A590A exonic ENSG00000073921 NA synonymous SNV ENSG00000073921:ENST00000528398:exon16:c.T1467G:p.A489A,ENSG00000073921:ENST00000532317:exon16:c.T1620G:p.A540A,ENSG00000073921:ENST00000356360:exon17:c.T1770G:p.A590A,ENSG00000073921:ENST00000393346:exon17:c.T1770G:p.A590A,ENSG00000073921:ENST00000526033:exon17:c.T1749G:p.A583A Score=673;Name=lod=725 NA 11q14.2 Score=872;Name=V$SOX9_B1 NA NA NA rs76719109 0.6 0.6 0.578 0.622804 0.5875 0.6577 0.585 0.6097 0.6677 0.58 0.63 0.57 0.6 0.5984 0.63 . . . . . . . . 0.000 P . . . . -0.934 T 0.000 T . 1.441 10.76 3.17 1.010 2.399 5.702 1.44082 1.44082 NA 0.595371 0.618702 ID=COSM1357534;OCCURENCE=2(large_intestine) 0.688 NA 9.8853956 671 1 151108137 151108137 T G exonic SEMA6C NA nonsynonymous SNV SEMA6C:NM_001178062:exon13:c.A1243C:p.T415P,SEMA6C:NM_001178061:exon14:c.A1363C:p.T455P,SEMA6C:NM_030913:exon14:c.A1363C:p.T455P exonic ENSG00000143434 NA nonsynonymous SNV ENSG00000143434:ENST00000368912:exon13:c.A1243C:p.T415P,ENSG00000143434:ENST00000341697:exon14:c.A1363C:p.T455P,ENSG00000143434:ENST00000368913:exon14:c.A1363C:p.T455P,ENSG00000143434:ENST00000368914:exon14:c.A1363C:p.T455P Score=501;Name=lod=145 NA 1q21.3 NA Name=CTCF Name=7 NA rs4971007 0.83 0.83 0.834 0.823482 0.8201 0.9048 0.8084 0.7632 0.8354 0.82 0.9 0.82 0.78 0.8189 0.9 0.36 T 0.0 B 0.0 B 0.000 N 0.990 P 0.975 L 2.84 T -0.967 T 0.009 T 0.098 1.981 12.58 4.64 0.974 0.899 10.287 1.98054 1.98054 0.58 0.809302 0.778484 NA 0.812 NA 9.8850314 672 12 4554630 4554630 A G exonic FGF6 NA nonsynonymous SNV FGF6:NM_020996:exon1:c.T107C:p.V36A exonic ENSG00000111241 NA nonsynonymous SNV ENSG00000111241:ENST00000228837:exon1:c.T107C:p.V36A Score=739;Name=lod=1348 NA 12p13.32 NA NA NA NA rs11613495 0.1 0.1 0.097 0.0932508 0.1461 0.0139 0.0994 0.09 0.1207 0.16 0.02 0.08 0.1 0.1397 0.16 0.9 T 0.0 B 0.0 B 0.003 N 0.978 P 0.55 N 1.84 T -1.002 T 0.000 T 0.076 0.327 5.776 3.3 0.840 1.317 5.788 0.327498 NA 0.56 0.162674 0.105765 NA 0.058 NA 9.8848594 672 8 144654255 144654255 A G exonic MROH6 NA nonsynonymous SNV MROH6:NM_001100878:exon2:c.T395C:p.V132A exonic ENSG00000204839 NA nonsynonymous SNV ENSG00000204839:ENST00000398882:exon2:c.T395C:p.V132A,ENSG00000204839:ENST00000529971:exon2:c.T395C:p.V132A NA NA 8q24.3 Score=875;Name=V$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 672 17 72240168 72240168 G A exonic TTYH2 NA nonsynonymous SNV TTYH2:NM_032646:exon6:c.G784A:p.A262T exonic ENSG00000141540 NA nonsynonymous SNV ENSG00000141540:ENST00000269346:exon6:c.G784A:p.A262T,ENSG00000141540:ENST00000529107:exon6:c.G721A:p.A241T NA NA 17q25.1 NA NA NA NA rs35682745 0.11 0.11 0.084 0.108826 0.1511 0.0486 0.1556 0.0847 0.1268 0.15 0.04 0.14 0.08 0.1441 0.15 0.11 T 0.023 B 0.013 B 0.002 N 0.000 P 2.4 M 2.7 T -1.097 T 0.000 T 0.424 2.717 15.05 3.16 0.536 4.109 8.859 2.716813 2.716813 0.09 0.154302 0.116432 NA 0.087 NA 9.8838314 672 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 672 10 3155698 3155698 C T exonic PFKP NA synonymous SNV PFKP:NM_002627:exon13:c.C1359T:p.F453F,PFKP:NM_001242339:exon15:c.C1335T:p.F445F exonic ENSG00000067057 NA synonymous SNV ENSG00000067057:ENST00000415005:exon8:c.C711T:p.F237F,ENSG00000067057:ENST00000381125:exon13:c.C1359T:p.F453F,ENSG00000067057:ENST00000381075:exon15:c.C1335T:p.F445F NA NA 10p15.2 Score=834;Name=V$CEBP_C Name=BCL3 NA NA rs4881086 0.26 0.26 0.237 0.267572 0.2485 0.1349 0.3127 0.3215 0.319 0.25 0.15 0.34 0.33 0.2758 0.34 . . . . . . . . 0.000 P . . . . -1.074 T 0.000 T . -1.057 0.187 -10.3 -3.323 -3.262 12.219 -1.056887 NA NA 0.259535 0.284839 ID=COSM427478,COSM427477;OCCURENCE=1(breast) 0.254 NA 9.8828316 672 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 672 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 672 3 184020542 184020542 G T exonic PSMD2 NA nonsynonymous SNV PSMD2:NM_002808:exon7:c.G939T:p.E313D exonic ENSG00000175166 NA nonsynonymous SNV ENSG00000175166:ENST00000435761:exon5:c.G462T:p.E154D,ENSG00000175166:ENST00000439383:exon5:c.G549T:p.E183D,ENSG00000175166:ENST00000310118:exon7:c.G939T:p.E313D Score=642;Name=lod=543 NA 3q27.1 Score=843;Name=V$TST1_01 NA NA NA rs11545169 0.09 0.09 0.079 0.076877 0.159 0.0327 0.1081 0.0061 0.1115 0.17 0.02 0.12 0.01 0.131 0.17 1 T 0.0 B 0.001 B 0.000 D 0.000 P -0.85 N 1.8 T -0.954 T 0.000 T 0.057 0.425 6.311 1.32 0.126 0.422 8.954 0.425408 NA 0.6 0.161047 0.029732 NA 0.065 NA 9.8822864 672 6 53519605 53519605 C T exonic KLHL31 NA nonsynonymous SNV KLHL31:NM_001003760:exon2:c.G466A:p.V156I exonic ENSG00000124743 NA nonsynonymous SNV ENSG00000124743:ENST00000407079:exon1:c.G466A:p.V156I,ENSG00000124743:ENST00000370905:exon2:c.G466A:p.V156I Score=586;Name=lod=322 NA 6p12.1 NA NA NA NA rs3799260 0.84 0.84 0.824 0.861422 0.7952 0.9157 0.8732 0.823 0.9172 0.79 0.9 0.88 0.84 0.8403 0.9 0.44 T 0.309 B 0.197 B 0.000 D 0.000 P 1.425 L -0.21 T -0.910 T 0.153 T 0.162 2.228 13.41 6.03 2.868 4.899 15.612 2.227789 2.227789 0.51 0.816512 0.815479 NA 0.899 NA 9.8813214 672 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 672 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 672 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 672 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 672 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 672 1 64021096 64021096 G A exonic EFCAB7 NA nonsynonymous SNV EFCAB7:NM_032437:exon9:c.G1124A:p.R375K exonic ENSG00000203965 NA nonsynonymous SNV ENSG00000203965:ENST00000371088:exon9:c.G1124A:p.R375K Score=566;Name=lod=266 NA 1p31.3 NA NA NA NA rs2273367 0.14 0.14 0.132 0.139976 0.1441 0.1855 0.1585 0.0673 0.1738 0.14 0.18 0.17 0.08 0.1575 0.18 0.25 T 0.001 B 0.002 B 0.000 N 0.000 P 1.79 L 0.91 T -1.089 T 0.050 T 0.04 2.196 13.3 4.04 0.773 4.663 10.965 2.196337 2.196337 0.16 0.154186 0.078983 NA 0.08 NA 9.8775474 672 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 673 3 101283792 101283792 C G exonic TRMT10C NA nonsynonymous SNV TRMT10C:NM_017819:exon2:c.C167G:p.P56R exonic ENSG00000174173 NA nonsynonymous SNV ENSG00000174173:ENST00000309922:exon2:c.C167G:p.P56R,ENSG00000174173:ENST00000495642:exon2:c.C167G:p.P56R NA NA 3q12.3 NA NA NA NA rs3762735 0.13 0.13 0.109 0.136781 0.1461 0.1171 0.1066 0.1044 0.2127 0.14 0.11 0.13 0.13 0.15 0.16 0.1 T 0.001 B 0.002 B 0.888 N 1.000 P 0.895 L 2.56 T -1.066 T 0.000 T 0.062 0.642 7.448 5.16 1.545 1.431 9.818 0.642048 NA 0.17 0.162274 0.101872 NA 0.152 NA 9.8749594 673 5 145718765 145718765 C T exonic POU4F3 NA synonymous SNV POU4F3:NM_002700:exon1:c.C90T:p.A30A exonic ENSG00000091009,ENSG00000091010 NA nonsynonymous SNV ENSG00000091009:ENST00000506502:exon20:c.C3046T:p.H1016Y Score=706;Name=lod=984 NA 5q32 NA Name=SUZ12 Name=8 NA rs28994879 0.03 0.03 0.025 0.0177716 0.0537 NA 0.0331 0.003 0.0082 0.06 NA 0.05 0.002 0.0309 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 1.505437 1.505437 NA 0.042326 0.005674 NA 0.007 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037585.1;CLNDSDB=.;CLNDSDBID=. 9.873074 673 7 150269542 150269542 G T exonic GIMAP4 NA nonsynonymous SNV GIMAP4:NM_018326:exon3:c.G384T:p.E128D exonic ENSG00000133574 NA nonsynonymous SNV ENSG00000133574:ENST00000255945:exon3:c.G384T:p.E128D,ENSG00000133574:ENST00000461940:exon3:c.G426T:p.E142D,ENSG00000133574:ENST00000479232:exon3:c.G426T:p.E142D NA NA 7q36.1 NA NA NA NA rs2293172 0.15 0.15 0.137 0.136781 0.1561 0.2173 0.1412 0.0734 0.1166 0.17 0.21 0.17 0.06 0.1469 0.21 0.29 T 0.039 B 0.02 B 0.019 N 1.000 P 0.63 N 0.02 T -1.108 T 0.000 T 0.093 0.002 4.023 2.86 1.226 -0.964 7.459 0.001695 NA 0.55 0.157326 0.078983 NA 0.275 NA 9.8730074 673 2 241536126 241536126 A G exonic CAPN10 NA nonsynonymous SNV CAPN10:NM_023083:exon9:c.A1510G:p.T504A exonic ENSG00000142330 NA nonsynonymous SNV ENSG00000142330:ENST00000391984:exon9:c.A1510G:p.T504A,ENSG00000142330:ENST00000404753:exon9:c.A1510G:p.T504A NA NA 2q37.3 NA NA NA NA rs7607759 0.11 0.11 0.091 0.116813 0.159 0.0933 0.1254 0.0287 0.2106 0.18 0.1 0.13 0.02 0.1474 0.18 0.84 T 0.0 B 0.0 B 0.522 N 1.000 P -1.355 N -2.09 D -1.083 T 0.001 T 0.012 -0.2 3.031 -3.01 -1.127 -0.328 5.082 -0.199628 NA 0.53 0.155702 0.045789 NA 0.174 NA 9.8712314 673 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 673 5 65321311 65321311 C T exonic ERBB2IP NA nonsynonymous SNV ERBB2IP:NM_001006600:exon11:c.C821T:p.S274L,ERBB2IP:NM_001253697:exon11:c.C821T:p.S274L,ERBB2IP:NM_001253698:exon11:c.C821T:p.S274L,ERBB2IP:NM_001253699:exon11:c.C821T:p.S274L,ERBB2IP:NM_001253701:exon11:c.C821T:p.S274L,ERBB2IP:NM_018695:exon11:c.C821T:p.S274L exonic ENSG00000112851 NA nonsynonymous SNV ENSG00000112851:ENST00000508515:exon10:c.C821T:p.S274L,ENSG00000112851:ENST00000284037:exon11:c.C821T:p.S274L,ENSG00000112851:ENST00000380935:exon11:c.C821T:p.S274L,ENSG00000112851:ENST00000380936:exon11:c.C821T:p.S274L,ENSG00000112851:ENST00000380938:exon11:c.C821T:p.S274L,ENSG00000112851:ENST00000380939:exon11:c.C821T:p.S274L,ENSG00000112851:ENST00000380943:exon11:c.C821T:p.S274L,ENSG00000112851:ENST00000416865:exon11:c.C821T:p.S274L,ENSG00000112851:ENST00000506030:exon11:c.C821T:p.S274L,ENSG00000112851:ENST00000511297:exon11:c.C821T:p.S274L Score=614;Name=lod=418 NA 5q12.3 NA NA NA NA rs3213837 0.1 0.1 0.098 0.121006 0.1541 0.0942 0.1744 0.0091 0.228 0.15 0.09 0.15 0.01 0.1546 0.16 0.34 T 0.024 B 0.018 B 0.000 D 0.001 P 0.88 L 1.83 T -1.022 T 0.000 T 0.12 1.089 9.444 2.3 0.654 0.636 4.465 1.088912 NA 0.68 0.156315 0.034952 NA 0.13 NA 9.8683184 673 11 60102507 60102507 G T exonic MS4A6E NA nonsynonymous SNV MS4A6E:NM_139249:exon1:c.G139T:p.V47F exonic ENSG00000166926 NA nonsynonymous SNV ENSG00000166926:ENST00000300182:exon1:c.G139T:p.V47F,ENSG00000166926:ENST00000530509:exon1:c.G58T:p.V20F,ENSG00000166926:ENST00000532756:exon1:c.G64T:p.V22F NA NA 11q12.2 NA NA NA NA rs2304933 0.3 0.3 0.256 0.257788 0.3111 0.255 0.4222 0.2262 0.1319 0.33 0.26 0.35 0.26 0.3187 0.35 0.07 T 0.996 D 0.849 P 0.415 N 1.000 P 1.39 L 2.46 T -0.920 T 0.000 T 0.354 1.219 9.946 2.23 1.226 0.209 7.860 1.218706 NA 0.03 0.336047 0.258057 NA 0.254 NA 9.8674864 673 7 23794029 23794029 G A exonic STK31 NA nonsynonymous SNV STK31:NM_001260504:exon10:c.G1160A:p.G387E,STK31:NM_001260505:exon10:c.G1229A:p.G410E,STK31:NM_031414:exon10:c.G1229A:p.G410E,STK31:NM_032944:exon10:c.G1160A:p.G387E exonic ENSG00000196335 NA nonsynonymous SNV ENSG00000196335:ENST00000354639:exon10:c.G1160A:p.G387E,ENSG00000196335:ENST00000355870:exon10:c.G1229A:p.G410E,ENSG00000196335:ENST00000428484:exon10:c.G1160A:p.G387E,ENSG00000196335:ENST00000433467:exon10:c.G1229A:p.G410E Score=444;Name=lod=85 NA 7p15.3 NA NA NA NA rs4722266 0.2 0.2 0.198 0.21885 0.1342 0.2073 0.3112 0.1982 0.2802 0.13 0.22 0.28 0.22 0.1909 0.28 1 T 0.0 B 0.0 B 0.219 N 0.998 P -1.265 N 2.7 T -0.926 T 0.000 T 0.12 -0.518 1.635 3.36 0.435 2.818 6.218 -0.518037 NA 1 0.141628 0.199501 NA 0.196 NA 9.8666054 673 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 673 19 48954421 48954421 G A exonic GRWD1 NA nonsynonymous SNV GRWD1:NM_031485:exon6:c.G956A:p.R319Q exonic ENSG00000105447 NA nonsynonymous SNV ENSG00000105447:ENST00000253237:exon6:c.G956A:p.R319Q,ENSG00000105447:ENST00000598711:exon6:c.G647A:p.R216Q Score=555;Name=lod=241 NA 19q13.33 NA NA NA NA rs2302951 0.19 0.19 0.159 0.192891 0.1511 0.1468 0.3674 0.2224 0.1196 0.15 0.15 0.3 0.22 0.1794 0.3 0.69 T 0.0 B 0.003 B 0.108 N 0.875 P -0.47 N 5.06 T -0.953 T 0.000 T 0.063 1.113 9.54 4.04 2.276 0.690 6.291 1.113077 NA 0.65 0.136977 0.187018 NA 0.181 NA 9.8658564 674 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 674 6 153043035 153043035 G A exonic MYCT1 NA nonsynonymous SNV MYCT1:NM_025107:exon2:c.G355A:p.G119S exonic ENSG00000120279 NA nonsynonymous SNV ENSG00000120279:ENST00000367245:exon2:c.G355A:p.G119S Score=519;Name=lod=172 NA 6q25.2 NA NA NA NA rs17710008 0.13 0.13 0.098 0.109824 0.159 0.0893 0.2392 0.0098 0.1237 0.16 0.11 0.24 0.02 0.1432 0.24 0.69 T 0.341 B 0.029 B 0.037 N 0.000 P 0.29 N 1.59 T -1.006 T 0.013 T 0.34 1.553 11.15 3.77 1.451 0.603 8.143 1.552847 1.552847 0.69 0.16686 0.041534 NA 0.13 NA 9.8642734 674 3 46783959 46783959 T C exonic PRSS45 NA nonsynonymous SNV PRSS45:NM_199183:exon4:c.A568G:p.I190V exonic ENSG00000188086 NA nonsynonymous SNV ENSG00000188086:ENST00000442359:exon4:c.A568G:p.I190V NA NA 3p21.31 Score=843;Name=V$GATA1_02 NA NA NA rs58830807 0.21 0.21 0.225 0.262979 0.1441 0.121 0.1844 0.528 0.229 0.15 0.11 0.16 0.47 0.1816 0.47 1 T 0.0 B 0.001 B 0.098 N 0.000 P . . -2.28 D -1.047 T 0.000 T 0.057 -1.921 0.008 -0.106 -0.453 -0.998 9.715 -1.920869 NA 1 0.144395 0.413324 NA 0.21 NA 9.8632384 674 14 60591887 60591887 G A exonic PCNXL4 NA nonsynonymous SNV PCNXL4:NM_022495:exon8:c.G2296A:p.G766S exonic ENSG00000126773 NA nonsynonymous SNV ENSG00000126773:ENST00000535349:exon3:c.G619A:p.G207S,ENSG00000126773:ENST00000555740:exon3:c.G1306A:p.G436S,ENSG00000126773:ENST00000317623:exon8:c.G2296A:p.G766S,ENSG00000126773:ENST00000404681:exon8:c.G2998A:p.G1000S,ENSG00000126773:ENST00000406949:exon8:c.G2296A:p.G766S,ENSG00000126773:ENST00000406854:exon9:c.G2998A:p.G1000S Score=420;Name=lod=68 NA 14q23.1 NA NA NA NA rs167437 0.28 0.28 0.303 0.348842 0.1183 0.3472 0.1412 0.6082 0.3845 0.11 0.34 0.16 0.56 0.2246 0.56 0.82 T 0.004 B 0.002 B 0.021 N 0.000 P -0.895 N 1.12 T -0.930 T 0.000 T 0.039 -0.053 3.746 5.18 0.914 4.470 6.555 -0.052626 NA 0.88 0.128256 0.539038 NA 0.246 NA 9.8621774 674 17 63554591 63554591 G A exonic AXIN2 NA nonsynonymous SNV AXIN2:NM_004655:exon2:c.C148T:p.P50S exonic ENSG00000168646 NA nonsynonymous SNV ENSG00000168646:ENST00000375702:exon1:c.C148T:p.P50S,ENSG00000168646:ENST00000307078:exon2:c.C148T:p.P50S,ENSG00000168646:ENST00000544103:exon2:c.C148T:p.P50S,ENSG00000168646:ENST00000577278:exon2:c.C148T:p.P50S,ENSG00000168646:ENST00000580513:exon2:c.C148T:p.P50S,ENSG00000168646:ENST00000585045:exon2:c.C148T:p.P50S Score=329;Name=lod=29 NA 17q24.1 Score=723;Name=V$SEF1_C NA NA NA rs2240308 0.35 0.35 0.279 0.33766 0.4702 0.3234 0.5159 0.0666 0.456 0.49 0.31 0.47 0.09 0.4737 0.53 0.96 T 0.0 B 0.0 B 0.209 N 0.001 P . . -0.04 T -0.975 T 0.000 T 0.044 -0.675 1.053 2.75 0.980 0.923 7.627 -0.675392 NA 0.81 0.527791 0.13527 NA 0.377 NA 9.8616424 674 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 674 20 1115919 1115919 A G exonic PSMF1 NA nonsynonymous SNV PSMF1:NM_006814:exon4:c.A521G:p.H174R,PSMF1:NM_178578:exon5:c.A521G:p.H174R exonic ENSG00000125818 NA nonsynonymous SNV ENSG00000125818:ENST00000246015:exon4:c.A521G:p.H174R,ENSG00000125818:ENST00000335877:exon4:c.A521G:p.H174R,ENSG00000125818:ENST00000381898:exon4:c.A257G:p.H86R,ENSG00000125818:ENST00000333082:exon5:c.A521G:p.H174R,ENSG00000125818:ENST00000381899:exon5:c.A521G:p.H174R Score=477;Name=lod=116 NA 20p13 NA NA NA NA rs2235587 0.22 0.22 0.186 0.201677 0.1471 0.4841 0.2089 0.0121 0.2178 0.16 0.49 0.2 0.01 0.1778 0.49 0.8 T 0.0 B 0.001 B 0.065 N 0.000 P -2.215 N 1.8 T -0.932 T 0.000 T 0.256 -1.282 0.042 2.91 0.414 2.007 5.655 -1.282104 NA 1 0.150233 0.033818 NA 0.087 NA 9.8582004 674 15 99669628 99669628 A T exonic SYNM NA unknown UNKNOWN exonic ENSG00000182253 NA nonsynonymous SNV ENSG00000182253:ENST00000560674:exon4:c.A205T:p.R69W,ENSG00000182253:ENST00000328642:exon5:c.A1060T:p.R354W,ENSG00000182253:ENST00000336292:exon5:c.A1060T:p.R354W NA NA 15q26.3 NA NA NA NA rs3743242 0.15 0.15 0.152 0.147564 0.1074 0.2718 0.0692 0.1082 0.1697 0.1 0.3 0.08 0.11 0.1139 0.3 0.05 D 0.997 D 0.887 P . . 1.000 P . . -1.95 D -1.032 T 0.000 T 0.395 3.507 17.92 -0.536 0.019 0.758 14.309 3.506852 3.506852 0.09 0.087591 0.097074 NA 0.109 NA 9.8577757 674 20 60887581 60887581 G A exonic LAMA5 NA nonsynonymous SNV LAMA5:NM_005560:exon68:c.C9235T:p.R3079W exonic ENSG00000130702 NA nonsynonymous SNV ENSG00000130702:ENST00000370691:exon6:c.C730T:p.R244W,ENSG00000130702:ENST00000252999:exon68:c.C9235T:p.R3079W NA NA 20q13.33 NA NA NA NA rs944895 0.67 0.67 0.653 0.677117 0.6431 0.7411 0.6988 0.5666 0.7802 0.65 0.74 0.71 0.57 0.6811 0.74 0.01 D 0.983 D 0.545 P 0.086 N 1.000 P 0 N -1.18 T -0.903 T 0.000 T 0.185 1.026 9.192 3.38 2.269 -0.605 3.295 1.02639 NA 0.06 0.652073 0.569995 ID=COSM444167;OCCURENCE=1(breast) 0.652 NA 9.8570604 674 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 674 18 66542006 66542006 G T exonic CCDC102B NA nonsynonymous SNV CCDC102B:NM_024781:exon5:c.G1037T:p.C346F,CCDC102B:NM_001093729:exon7:c.G1037T:p.C346F exonic ENSG00000150636 NA nonsynonymous SNV ENSG00000150636:ENST00000584156:exon4:c.G1037T:p.C346F,ENSG00000150636:ENST00000319445:exon5:c.G1037T:p.C346F,ENSG00000150636:ENST00000360242:exon5:c.G1037T:p.C346F,ENSG00000150636:ENST00000358653:exon6:c.G1037T:p.C346F NA NA 18q22.1 NA NA NA NA rs745894 0.18 0.18 0.161 0.195687 0.1382 0.1349 0.183 0.2882 0.2014 0.15 0.13 0.18 0.27 0.1758 0.28 0.08 T 0.002 B 0.003 B 0.503 N 1.000 P 1.59 L 2.74 T -0.974 T 0.000 T 0.088 -1.267 0.046 -8.87 -1.839 -4.379 3.561 -1.267362 NA 0.09 0.16407 0.282569 NA 0.167 NA 9.8552634 675 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$GR_Q6 Name=ZNF263 Name=10 NA rs10866911 0.38 0.38 0.327 0.320288 0.5229 0.3562 0.4135 0.1135 0.2883 0.53 0.32 0.49 0.13 0.4319 0.53 0.53 T 0.037 B 0.018 B . . 0.029 P 0.55 N 4.19 T -0.915 T 0.000 T 0.128 2.854 15.51 -1.38 -0.139 1.349 6.138 2.853888 2.853888 0.24 0.525018 0.171216 NA 0.254 NA 9.8535154 675 22 17469049 17469049 C A exonic GAB4 NA stopgain GAB4:NM_001037814:exon3:c.G487T:p.G163X exonic ENSG00000215568 NA stopgain ENSG00000215568:ENST00000400588:exon3:c.G487T:p.G163X NA NA 22q11.1 Score=795;Name=V$OLF1_01 NA Name=3 NA rs28502153 0.34 0.34 0.326 0.353634 0.3698 0.3938 0.4265 0.1982 0.454 0.36 0.4 0.39 0.19 0.3867 0.4 0.73 T . . . . 0.000 U 0.000 P . . . . . . . . . 1.65 11.48 -0.505 -0.183 1.798 2.274 1.650227 1.650227 1 0.390673 0.233772 NA 0.333 NA 9.852827 675 13 46287373 46287373 C A exonic SPERT NA stopgain SPERT:NM_152719:exon3:c.C213A:p.C71X exonic ENSG00000174015 NA stopgain ENSG00000174015:ENST00000378966:exon2:c.C105A:p.C35X,ENSG00000174015:ENST00000533564:exon2:c.C132A:p.C44X,ENSG00000174015:ENST00000310521:exon3:c.C213A:p.C71X NA NA 13q14.13 NA NA NA NA rs80072371 0.06 0.06 0.048 0.0680911 0.0487 0.001 0.0461 0.1573 0.0521 0.05 NA 0.05 0.14 0.0511 0.14 1 T . . . . 0.000 D 1.000 D . . . . . . . . . 3.485 17.83 -0.559 -0.368 0.036 4.989 3.484572 3.484572 0 0.048151 0.127157 NA 0.065 NA 9.852049 675 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=GR,CtBP2,NANOG_(SC-33759),ERalpha_a,YY1_(C-20),TCF4,SP1 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 675 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=NANOG_(SC-33759),CTCF 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 675 17 10219113 10219113 C T exonic MYH13 NA nonsynonymous SNV MYH13:NM_003802:exon29:c.G3881A:p.R1294Q exonic ENSG00000006788 NA nonsynonymous SNV ENSG00000006788:ENST00000418404:exon28:c.G3881A:p.R1294Q,ENSG00000006788:ENST00000252172:exon29:c.G3881A:p.R1294Q,ENSG00000006788:ENST00000570743:exon29:c.G3881A:p.R1294Q Score=636;Name=lod=511 NA 17p13.1 NA NA NA NA rs17690195 0.13 0.13 0.116 0.143171 0.166 0.1567 0.1513 0.0492 0.227 0.15 0.17 0.16 0.05 0.1645 0.17 1 T 0.0 B 0.001 B . . 0.998 P -1.345 N -0.89 T -1.069 T 0.000 T 0.051 -0.01 3.961 3.02 0.634 4.757 9.342 -0.010351 NA 1 0.152961 0.059296 NA 0.138 NA 9.8498724 675 7 47968927 47968927 C A exonic PKD1L1 NA nonsynonymous SNV PKD1L1:NM_138295:exon7:c.G934T:p.V312F exonic ENSG00000158683 NA nonsynonymous SNV ENSG00000158683:ENST00000289672:exon7:c.G934T:p.V312F NA NA 7p12.3 NA NA NA NA rs2686817 0.49 0.49 0.46 0.484824 0.505 0.5089 0.5072 0.5136 0.3845 0.52 0.49 0.48 0.47 0.4885 0.58 0 D 1.0 D 0.994 D 0.000 N 1.000 P 0.805 L 0.98 T -0.943 T 0.000 T 0.19 2.336 13.77 2.03 0.395 0.448 5.420 2.3355 2.3355 0 0.490698 0.495234 NA 0.645 NA 9.8491354 676 7 102098010 102098010 G A exonic ALKBH4 NA nonsynonymous SNV ALKBH4:NM_017621:exon3:c.C740T:p.A247V exonic ENSG00000160993 NA nonsynonymous SNV ENSG00000160993:ENST00000292566:exon3:c.C740T:p.A247V NA NA 7q22.1 Score=780;Name=V$PAX5_01 NA NA NA rs41275227 0.11 0.11 0.102 0.127596 0.165 0.1478 0.1153 0.0068 0.2403 0.16 0.13 0.13 0.01 0.1679 0.16 0.17 T 0.259 B 0.04 B 0.016 N 1.000 P 1.245 L -1.02 T -1.063 T 0.001 T 0.094 0.652 7.498 3.26 0.534 2.765 3.602 0.652085 NA NA 0.155501 0.035909 NA 0.138 NA 9.8449324 676 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 676 1 223178478 223178478 G A exonic DISP1 NA nonsynonymous SNV DISP1:NM_032890:exon10:c.G3739A:p.A1247T exonic ENSG00000154309 NA nonsynonymous SNV ENSG00000154309:ENST00000284476:exon8:c.G3739A:p.A1247T NA NA 1q41 NA NA NA NA rs9441940 0.08 0.08 0.078 0.0696885 0.1829 NA 0.0937 0.0151 0.0818 0.17 NA 0.1 0.03 0.1264 0.18 0.61 T 0.0 B 0.0 B 0.174 N 1.000 P -0.145 N -2.88 D -0.903 T 0.001 T 0.0 -1.1 0.143 -11.0 -7.105 -3.127 2.856 -1.100258 NA 0.14 0.182209 0.046754 NA 0.08 NA 9.8418244 676 14 74489735 74489735 G A exonic CCDC176 NA nonsynonymous SNV CCDC176:NM_025057:exon2:c.G173A:p.R58Q exonic ENSG00000119636 NA nonsynonymous SNV ENSG00000119636:ENST00000394009:exon2:c.G173A:p.R58Q Score=598;Name=lod=358 NA 14q24.3 Score=755;Name=V$STAT1_01 NA NA NA rs3784039 0.24 0.24 0.244 0.202276 0.1541 0.5585 0.0965 0.0651 0.1452 0.16 0.57 0.1 0.07 0.198 0.57 0.3 T 0.105 B 0.009 B 0.033 N 0.000 P 1.52 L 2.22 T -0.953 T 0.000 T 0.046 2.29 13.62 0.654 -0.054 1.714 4.535 2.290199 2.290199 0.06 0.140285 0.080357 ID=COSM147815;OCCURENCE=1(stomach) 0.109 NA 9.8409484 676 5 140517174 140517174 T C exonic PCDHB5 NA nonsynonymous SNV PCDHB5:NM_015669:exon1:c.T2158C:p.S720P exonic ENSG00000113209 NA nonsynonymous SNV ENSG00000113209:ENST00000231134:exon1:c.T2158C:p.S720P NA NA 5q31.3 NA NA NA NA rs400562 0.83 0.83 0.798 0.85024 0.838 0.8819 0.7954 0.8336 0.8916 0.82 0.88 0.79 0.79 0.8362 0.88 0.11 T 0.932 P 0.757 P . . 1.000 P 2.335 M 2.53 T -0.945 T 0.000 T 0.042 1.349 10.43 -8.88 -1.420 -1.459 3.225 1.348983 1.348983 0.04 0.818436 0.794959 NA 0.804 NA 9.8406974 676 14 58605790 58605790 G A exonic C14orf37 NA nonsynonymous SNV C14orf37:NM_001001872:exon2:c.C287T:p.T96I exonic ENSG00000139971 NA nonsynonymous SNV ENSG00000139971:ENST00000267485:exon2:c.C287T:p.T96I NA NA 14q23.1 NA NA NA NA rs3829765 0.37 0.37 0.341 0.341254 0.5129 0.2857 0.3415 0.2239 0.3804 0.5 0.3 0.4 0.24 0.4413 0.54 0.02 D 0.944 P 0.714 P 0.219 N 1.000 P 1.61 L 1.97 T -0.917 T 0.000 T 0.111 3.269 16.97 4.91 1.417 0.605 8.077 3.269065 3.269065 0.01 0.539535 0.267136 NA 0.391 NA 9.8395984 676 21 38444881 38444881 G A exonic PIGP NA nonsynonymous SNV PIGP:NM_153681:exon1:c.C7T:p.P3S exonic ENSG00000185808 NA nonsynonymous SNV ENSG00000185808:ENST00000464265:exon1:c.C7T:p.P3S NA NA 21q22.13 NA Name=Pol2,HA-E2F1,Ini1,E2F6_(H-50),E2F6,HMGN3,TAF1,Pol2-4H8,E2F1,YY1_(C-20),TBP,CCNT2,AP-2gamma,Egr-1,YY1 Name=136 NA rs73200245 0.22 0.22 0.197 0.208866 0.1521 0.0823 0.3573 0.3775 0.0644 0.16 0.1 0.34 0.37 0.1813 0.37 0.27 T 0.0 B 0.0 B 0.000 N 1.000 P -0.345 N 1.91 T -0.941 T 0.000 T 0.118 1.602 11.31 -4.09 -0.353 -0.903 2.150 1.60193 1.60193 NA 0.160465 0.337948 NA 0.326 NA 9.8394684 676 19 58152795 58152795 C T exonic ZNF211 NA nonsynonymous SNV ZNF211:NM_001265600:exon3:c.C758T:p.A253V,ZNF211:NM_198855:exon3:c.C941T:p.A314V,ZNF211:NM_001265598:exon4:c.C1097T:p.A366V,ZNF211:NM_006385:exon4:c.C980T:p.A327V,ZNF211:NM_001265597:exon5:c.C1136T:p.A379V,ZNF211:NM_001265599:exon5:c.C914T:p.A305V exonic ENSG00000121417 NA nonsynonymous SNV ENSG00000121417:ENST00000347302:exon3:c.C941T:p.A314V,ENSG00000121417:ENST00000391703:exon3:c.C758T:p.A253V,ENSG00000121417:ENST00000420680:exon3:c.C953T:p.A318V,ENSG00000121417:ENST00000240731:exon4:c.C980T:p.A327V,ENSG00000121417:ENST00000541801:exon4:c.C914T:p.A305V,ENSG00000121417:ENST00000254182:exon5:c.C914T:p.A305V,ENSG00000121417:ENST00000299871:exon5:c.C1136T:p.A379V,ENSG00000121417:ENST00000544273:exon5:c.C977T:p.A326V NA NA 19q13.43 NA NA NA NA rs11879465 0.22 0.22 0.229 0.214058 0.159 0.3214 0.1297 0.2352 0.1912 0.16 0.31 0.14 0.27 0.1793 0.31 0.13 T 0.065 B 0.005 B . . 1.000 P 0.15 N 2.29 T -0.923 T 0.000 T 0.209 1.252 10.08 -2.34 -1.230 -2.055 4.368 1.251787 1.251787 0.12 0.156395 0.222424 NA 0.196 NA 9.8386384 676 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 676 16 48201432 48201432 T C exonic ABCC11 NA nonsynonymous SNV ABCC11:NM_033151:exon28:c.A4031G:p.H1344R,ABCC11:NM_145186:exon28:c.A3917G:p.H1306R,ABCC11:NM_032583:exon29:c.A4031G:p.H1344R exonic ENSG00000121270 NA nonsynonymous SNV ENSG00000121270:ENST00000353782:exon28:c.A3917G:p.H1306R,ENSG00000121270:ENST00000394747:exon28:c.A4031G:p.H1344R,ENSG00000121270:ENST00000356608:exon29:c.A4031G:p.H1344R,ENSG00000121270:ENST00000394748:exon29:c.A4031G:p.H1344R Score=436;Name=lod=79 NA 16q12.1 NA NA NA NA rs16945916 0.17 0.17 0.172 0.170128 0.168 0.0446 0.1369 0.3865 0.0327 0.15 0.02 0.14 0.39 0.158 0.39 1 T 0.0 B 0.0 B 0.001 N 0.000 P -2.365 N -0.81 T -0.980 T 0.000 T 0.028 -0.823 0.615 2.03 -0.048 1.892 5.22 -0.823357 NA 1 0.169651 0.335529 NA 0.188 NA 9.8376824 676 7 134849213 134849213 G A exonic TMEM140 NA nonsynonymous SNV TMEM140:NM_018295:exon2:c.G20A:p.R7Q exonic ENSG00000146859 NA nonsynonymous SNV ENSG00000146859:ENST00000275767:exon2:c.G20A:p.R7Q NA NA 7q33 NA Name=Pol2,CTCF,CTCF_(SC-5916) Name=26 NA rs3800592 0.42 0.42 0.424 0.455871 0.4821 0.2589 0.4798 0.4009 0.6892 0.5 0.27 0.46 0.43 0.5056 0.51 0.22 T 0.055 B 0.008 B 0.926 N 1.000 P 1.87 L 2.12 T -0.931 T 0.000 T 0.016 2.299 13.65 -5.31 -1.042 -0.042 9.045 2.299389 2.299389 0.13 0.508372 0.43872 NA 0.536 NA 9.8372614 676 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 677 14 75538217 75538217 G T exonic ZC2HC1C NA nonsynonymous SNV ZC2HC1C:NM_024643:exon2:c.G941T:p.G314V exonic ENSG00000119703 NA nonsynonymous SNV ENSG00000119703:ENST00000238686:exon2:c.G941T:p.G314V,ENSG00000119703:ENST00000524913:exon2:c.G941T:p.G314V Score=440;Name=lod=82 NA 14q24.3 NA NA NA NA rs3742778 0.55 0.55 0.532 0.522764 0.503 0.8373 0.6196 0.2852 0.4714 0.49 0.81 0.56 0.32 0.5128 0.81 . . 0.001 B 0.003 B 0.021 N 0.683 P 0.345 N 0.91 T -1.013 T 0.000 T 0.05 -0.133 3.349 3.66 1.231 2.393 8.453 -0.132958 NA 0.05 0.48254 0.312159 NA 0.507 NA 9.8349934 677 17 7366651 7366651 C G exonic ZBTB4 NA nonsynonymous SNV ZBTB4:NM_001128833:exon4:c.G1650C:p.M550I,ZBTB4:NM_020899:exon4:c.G1650C:p.M550I exonic ENSG00000174282 NA nonsynonymous SNV ENSG00000174282:ENST00000311403:exon4:c.G1650C:p.M550I,ENSG00000174282:ENST00000380599:exon4:c.G1650C:p.M550I NA NA 17p13.1 NA NA NA NA rs871990 0.17 0.17 0.147 0.1873 0.1571 0.1944 0.2277 0.1203 0.273 0.15 0.2 0.23 0.11 0.1985 0.23 0.11 T 0.0 B 0.0 B 0.972 U 1.000 P 0 N 3.9 T -0.895 T 0.000 T 0.049 0.088 4.476 -9.81 -2.294 -3.455 4.054 0.088158 NA 0.31 0.142807 0.133182 NA 0.123 NA 9.8349264 677 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=USF-1,SRF 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 677 4 87690998 87690998 A G exonic PTPN13 NA nonsynonymous SNV PTPN13:NM_080684:exon26:c.A3993G:p.I1331M,PTPN13:NM_006264:exon28:c.A4509G:p.I1503M,PTPN13:NM_080683:exon29:c.A4566G:p.I1522M,PTPN13:NM_080685:exon29:c.A4581G:p.I1527M exonic ENSG00000163629 NA nonsynonymous SNV ENSG00000163629:ENST00000316707:exon26:c.A3993G:p.I1331M,ENSG00000163629:ENST00000427191:exon28:c.A4509G:p.I1503M,ENSG00000163629:ENST00000511467:exon28:c.A4581G:p.I1527M,ENSG00000163629:ENST00000411767:exon29:c.A4566G:p.I1522M,ENSG00000163629:ENST00000436978:exon29:c.A4581G:p.I1527M Score=516;Name=lod=166 NA 4q21.3 NA NA NA NA rs2230600 0.18 0.18 0.161 0.158546 0.159 0.3155 0.2277 0.0189 0.136 0.16 0.33 0.24 0.02 0.1775 0.33 0.22 T 0.374 B 0.305 B 0.158 N 0.421 P 0.935 L 1.67 T -0.941 T 0.000 T 0.102 1.623 11.38 3.14 0.976 0.147 2.036 1.6226 1.6226 0.22 0.163113 0.034833 ID=COSM142771;OCCURENCE=1(skin) 0.065 NA 9.8337204 677 19 12088237 12088237 G A exonic ZNF763 NA nonsynonymous SNV ZNF763:NM_001012753:exon3:c.G191A:p.R64K exonic ENSG00000197054,ENSG00000267179 NA nonsynonymous SNV ENSG00000197054:ENST00000481745:exon2:c.G275A:p.R92K,ENSG00000197054:ENST00000343949:exon3:c.G191A:p.R64K,ENSG00000197054:ENST00000358987:exon3:c.G182A:p.R61K,ENSG00000197054:ENST00000538752:exon3:c.G242A:p.R81K,ENSG00000267179:ENST00000590798:exon3:c.G242A:p.R81K NA NA 19p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004957 NA 0.27 T 0.956 P 0.931 D . . 1.000 N 1.185 L 3.48 T -0.996 T 0.026 T 0.109 0.801 8.215 0.606 0.577 0.086 2.925 0.801109 NA 0.18 NA NA NA NA NA 9.8332838 677 3 38404472 38404472 C A exonic XYLB NA nonsynonymous SNV XYLB:NM_005108:exon4:c.C255A:p.D85E exonic ENSG00000093217 NA nonsynonymous SNV ENSG00000093217:ENST00000207870:exon4:c.C255A:p.D85E Score=458;Name=lod=97 NA 3p22.2 Score=817;Name=V$IRF2_01 NA NA NA rs17118 0.26 0.26 0.255 0.235024 0.3469 0.2857 0.304 0.1051 0.1943 0.33 0.25 0.29 0.14 0.3012 0.35 0.1 T 0.319 B 0.513 P 0.289 N 0.000 P 2.075 M 0.86 T -0.972 T 0.000 T 0.14 3.574 18.21 0.69 0.198 0.155 4.392 3.573801 3.573801 0.12 0.352442 0.142079 NA 0.326 NA 9.8327914 677 22 50468933 50468933 G T intergenic IL17REL,MLC1 dist=17878;dist=28887 NA NA exonic ENSG00000138892 NA nonsynonymous SNV ENSG00000138892:ENST00000440475:exon11:c.C2069A:p.A690E,ENSG00000138892:ENST00000266182:exon12:c.C2129A:p.A710E,ENSG00000138892:ENST00000433387:exon12:c.C2177A:p.A726E NA NA 22q13.33 NA Name=PAX5-C20,Rad21,Nrf1,Max,YY1_(C-20),SMC3_(ab9263),AP-2gamma,E2F6,CTCF,E2F6_(H-50),USF-1,GABP,CTCF_(SC-5916),CTCF_(C-20),Znf143_(16618-1-AP) Name=128 NA rs79298 0.33 0.33 0.297 0.339257 0.336 0.2063 0.4078 0.4342 0.3027 0.35 0.19 0.37 0.44 0.3414 0.44 0.58 T 0.031 B 0.005 B 0.168 N 1.000 P 0.55 N 3.69 T -0.911 T 0.000 T 0.255 1.764 11.86 -7.71 -1.475 -1.940 4.632 1.763774 1.763774 0.05 0.323387 0.418205 NA 0.123 NA 9.8325464 677 9 135203409 135203409 A C exonic SETX NA nonsynonymous SNV SETX:NM_015046:exon10:c.T3576G:p.D1192E exonic ENSG00000107290 NA nonsynonymous SNV ENSG00000107290:ENST00000224140:exon10:c.T3576G:p.D1192E,ENSG00000107290:ENST00000372169:exon10:c.T3576G:p.D1192E,ENSG00000107290:ENST00000393220:exon10:c.T3576G:p.D1192E NA NA 9q34.13 NA NA NA NA rs1185193 0.66 0.66 0.626 0.640575 0.8757 0.3681 0.8055 0.5832 0.6401 0.88 0.34 0.8 0.59 0.7635 0.88 0.28 T 0.004 B 0.006 B 0.000 N 1.000 P 0.805 L -1.79 D -0.914 T 0.000 T 0.006 2.288 13.61 -9.5 -2.073 -0.995 16.379 2.288123 2.288123 0.04 0.861744 0.658647 NA 0.739 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081694.3;CLNDSDB=.;CLNDSDBID=. 9.8323894 677 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 677 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 677 X 1471062 1471062 G C exonic IL3RA NA nonsynonymous SNV IL3RA:NM_001267713:exon3:c.G134C:p.S45T,IL3RA:NM_002183:exon5:c.G368C:p.S123T exonic ENSG00000185291 NA nonsynonymous SNV ENSG00000185291:ENST00000381469:exon2:c.G134C:p.S45T,ENSG00000185291:ENST00000432757:exon3:c.G134C:p.S45T,ENSG00000185291:ENST00000331035:exon5:c.G368C:p.S123T NA NA Xp22.33 NA NA NA NA rs17883572 0.0027 0.0027 NA NA NA NA NA NA NA 0.01 NA 0.01 NA 0.0019 0.01 0.65 T 0.97 D 0.719 P 0.000 U 1.000 N 0.03 N -1.65 D -0.700 T 0.264 T 0.436 -0.202 3.02 -1.72 -0.389 -0.706 2.603 -0.202042 NA 0.95 0.003957 0.000682 NA NA NA 9.8274764 677 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 677 1 169762807 169762807 T G exonic METTL18 NA nonsynonymous SNV METTL18:NM_033418:exon2:c.A30C:p.E10D exonic ENSG00000171806 NA nonsynonymous SNV ENSG00000171806:ENST00000303469:exon2:c.A30C:p.E10D,ENSG00000171806:ENST00000310392:exon2:c.A30C:p.E10D,ENSG00000171806:ENST00000454472:exon2:c.A30C:p.E10D Score=336;Name=lod=31 NA 1q24.2 NA NA NA NA rs10489177 0.2 0.2 0.207 0.218251 0.164 0.1657 0.196 0.2693 0.2751 0.16 0.16 0.19 0.3 0.1853 0.3 0.34 T 0.006 B 0.004 B 0.046 N 0.003 P 1.59 L 2.48 T -1.086 T 0.041 T 0.109 1.544 11.11 3.01 2.072 0.092 7.862 1.543705 1.543705 0.23 0.157326 0.236496 NA 0.145 NA 9.8267074 677 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 677 1 161479745 161479745 A G exonic FCGR2A NA nonsynonymous SNV FCGR2A:NM_001136219:exon4:c.A500G:p.H167R,FCGR2A:NM_021642:exon4:c.A497G:p.H166R exonic ENSG00000143226 NA nonsynonymous SNV ENSG00000143226:ENST00000271450:exon4:c.A500G:p.H167R,ENSG00000143226:ENST00000367972:exon4:c.A497G:p.H166R NA Name=Inflammatory bowel disease,Kawasaki disease,Ulcerative colitis 1q23.3 NA NA NA NA rs1801274 0.43 0.43 0.43 0.441693 0.5109 0.2778 0.451 0.5257 0.4192 0.5 0.28 0.45 0.49 0.4791 0.56 0.28 T 0.0 B 0.002 B 0.000 N 0.520 P 1.355 L 2.78 T -0.958 T 0.008 T 0.061 0.02 4.117 -4.15 -0.971 -0.902 4.498 0.019927 NA 0.31 0.516977 0.55833 NA 0.478 CLINSIG=other|other|other;CLNDBN=Lupus_nephritis\x2c_susceptibility_to|Pseudomonas_aeruginosa\x2c_susceptibility_to_chronic_infection_by\x2c_in_cystic_fibrosis|Malaria\x2c_severe\x2c_susceptibility_to;CLNREVSTAT=single|single|single;CLNACC=RCV000015946.2|RCV000015947.2|RCV000054529.1;CLNDSDB=.|.|.;CLNDSDBID=.|.|. 9.8263564 678 11 35229673 35229673 T C exonic CD44 NA nonsynonymous SNV CD44:NM_001001390:exon6:c.T689C:p.I230T,CD44:NM_001001389:exon11:c.T1307C:p.I436T,CD44:NM_000610:exon12:c.T1436C:p.I479T exonic ENSG00000026508 NA nonsynonymous SNV ENSG00000026508:ENST00000278385:exon2:c.T197C:p.I66T,ENSG00000026508:ENST00000528672:exon3:c.T260C:p.I87T,ENSG00000026508:ENST00000533222:exon3:c.T314C:p.I105T,ENSG00000026508:ENST00000531110:exon5:c.T572C:p.I191T,ENSG00000026508:ENST00000360158:exon6:c.T689C:p.I230T,ENSG00000026508:ENST00000433892:exon6:c.T689C:p.I230T,ENSG00000026508:ENST00000415148:exon11:c.T1307C:p.I436T,ENSG00000026508:ENST00000449691:exon11:c.T1307C:p.I436T,ENSG00000026508:ENST00000428726:exon12:c.T1436C:p.I479T,ENSG00000026508:ENST00000433354:exon12:c.T1439C:p.I480T,ENSG00000026508:ENST00000437706:exon12:c.T1436C:p.I479T Score=251;Name=lod=14 NA 11p13 Score=766;Name=V$HTF_01 NA NA NA rs1467558 0.92 0.92 0.923 0.939097 0.8141 0.999 0.8919 0.9939 0.9652 0.83 1 0.88 0.99 0.8807 1 0.65 T 0.0 B 0.0 B 0.004 N 0.000 P -2.125 N 3.03 T -0.948 T 0.000 T 0.312 -1.175 0.086 6.16 1.638 2.089 11.807 -1.175163 NA 0.68 0.813634 0.960036 NA 0.826 NA 9.8248994 678 6 161807855 161807855 C G exonic PARK2 NA nonsynonymous SNV PARK2:NM_013988:exon7:c.G691C:p.V231L,PARK2:NM_013987:exon9:c.G1054C:p.V352L,PARK2:NM_004562:exon10:c.G1138C:p.V380L exonic ENSG00000185345 NA nonsynonymous SNV ENSG00000185345:ENST00000366896:exon7:c.G691C:p.V231L,ENSG00000185345:ENST00000338468:exon9:c.G565C:p.V189L,ENSG00000185345:ENST00000366894:exon9:c.G565C:p.V189L,ENSG00000185345:ENST00000366897:exon9:c.G1054C:p.V352L,ENSG00000185345:ENST00000366898:exon10:c.G1138C:p.V380L NA NA 6q26 NA NA NA NA rs1801582 0.14 0.14 0.135 0.172125 0.173 0.0853 0.1643 0.177 0.2597 0.15 0.08 0.15 0.21 0.1646 0.21 0.79 T 0.0 B 0.0 B 0.831 N 1.000 P -0.345 N -2.45 D -1.065 T 0.268 T 0.15 -0.343 2.378 2.74 0.530 -0.399 12.338 -0.342832 NA 0.79 0.17093 0.185202 NA 0.225 CLINSIG=non-pathogenic;CLNDBN=Parkinson_disease_2;CLNREVSTAT=single;CLNACC=RCV000034120.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1478:C1868675:600116:ORPHA2828 9.8248034 678 7 4876057 4876057 C T exonic RADIL NA nonsynonymous SNV RADIL:NM_018059:exon3:c.G715A:p.D239N exonic ENSG00000157927 NA nonsynonymous SNV ENSG00000157927:ENST00000399583:exon3:c.G715A:p.D239N,ENSG00000157927:ENST00000445392:exon3:c.G715A:p.D239N,ENSG00000157927:ENST00000536091:exon3:c.G715A:p.D239N NA NA 7p22.1 NA NA NA NA rs3763384 0.24 0.24 0.236 0.250998 0.2873 0.3264 0.2853 0.0401 0.3967 0.28 0.34 0.26 0.04 0.4143 0.34 0.57 T 0.688 P 0.059 B 0.195 N 0.000 P 1.06 L 3.27 T -0.926 T 0.000 T 0.044 1.275 10.16 4.85 2.243 0.996 10.785 1.274597 1.274597 0.14 0.309404 0.074029 NA 0.246 NA 9.8223294 678 11 6007272 6007272 A G exonic OR52L1 NA nonsynonymous SNV OR52L1:NM_001005173:exon1:c.T889C:p.W297R exonic ENSG00000183313 NA nonsynonymous SNV ENSG00000183313:ENST00000332249:exon1:c.T889C:p.W297R Score=431;Name=lod=75 NA 11p15.4 NA NA NA NA rs4237768 0.84 0.84 0.834 0.829073 0.8489 0.8681 0.8703 0.7821 0.8027 0.84 0.9 0.86 0.77 0.8378 0.9 0.02 D 0.001 B 0.0 B 0.001 N 1.000 P 3.495 M 8.75 T -0.901 T 0.000 T 0.119 -0.448 1.924 2.62 0.318 -2.451 5.062 -0.447696 NA 0.04 0.824375 0.787901 NA 0.841 NA 9.8222584 678 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 678 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 678 20 2637071 2637071 T C exonic NOP56 NA synonymous SNV NOP56:NM_006392:exon9:c.T1035C:p.T345T exonic ENSG00000101361 NA synonymous SNV ENSG00000101361:ENST00000329276:exon9:c.T1035C:p.T345T Score=689;Name=lod=843 NA 20p13 Score=828;Name=V$MRF2_01 Name=Pol2 Name=7 NA rs8958 0.66 0.66 0.643 0.673722 0.6064 0.626 0.683 0.7549 0.6759 0.61 0.6 0.68 0.79 0.6336 0.79 . . . . . . . . 0.000 P . . . . -1.016 T 0.000 T . 0.704 7.754 -1.64 -0.621 -0.124 2.091 0.703984 NA NA 0.610233 0.730141 NA 0.623 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117822.2;CLNDSDB=.;CLNDSDBID=. 9.8164336 678 17 648498 648498 C T exonic GEMIN4 NA nonsynonymous SNV GEMIN4:NM_015721:exon2:c.G2785A:p.D929N exonic ENSG00000179409 NA nonsynonymous SNV ENSG00000179409:ENST00000576778:exon1:c.G2752A:p.D918N,ENSG00000179409:ENST00000319004:exon2:c.G2785A:p.D929N NA NA 17p13.3 Score=726;Name=V$SEF1_C Name=USF-1,HNF4A_(H-171) NA NA rs2740349 0.87 0.87 0.901 0.892173 0.8439 0.8899 0.8242 0.9728 0.8834 0.84 0.88 0.81 0.96 0.8479 0.96 1 T 0.0 B 0.0 B 0.027 N 1.000 P -1.24 N 3.33 T -0.991 T 0.000 T 0.018 -1.535 0.016 4.69 1.046 1.204 4.629 -1.534733 NA 1 0.825756 0.955018 NA 0.804 NA 9.8157774 679 11 5602615 5602615 A G exonic OR52B6 NA nonsynonymous SNV OR52B6:NM_001005162:exon1:c.A509G:p.H170R exonic ENSG00000187747 NA nonsynonymous SNV ENSG00000187747:ENST00000345043:exon1:c.A509G:p.H170R NA NA 11p15.4 NA Name=CEBPB NA NA rs2341434 0.69 0.69 0.695 0.716653 0.4761 0.9802 0.67 0.7413 0.6922 0.47 0.97 0.63 0.72 0.5746 0.97 1 T 0.0 B 0.0 B 0.024 N 0.354 P -3.525 N 1.26 T -0.957 T 0.000 T 0.055 -2.09 0.006 5.15 1.413 1.843 9.936 -2.090174 NA 1 0.467877 0.696274 NA 0.616 NA 9.8147564 679 20 42826350 42826350 A C exonic C20orf111 NA nonsynonymous SNV C20orf111:NM_016470:exon4:c.T221G:p.V74G exonic ENSG00000132823 NA nonsynonymous SNV ENSG00000132823:ENST00000255174:exon4:c.T221G:p.V74G,ENSG00000132823:ENST00000372970:exon6:c.T221G:p.V74G Score=634;Name=lod=505 NA 20q13.12 NA NA NA NA rs9346 0.33 0.33 0.337 0.353634 0.1531 0.4196 0.1354 0.5862 0.3323 0.16 0.42 0.16 0.6 0.2243 0.6 0.02 D 0.062 B 0.119 B 0.197 N 0.000 P 1.67 L 0.57 T -0.937 T 0.000 T 0.201 1.992 12.62 1.03 0.116 1.618 9.161 1.992149 1.992149 0.08 0.141279 0.507263 NA 0.312 NA 9.8146544 679 14 50583083 50583083 G T exonic METTL21D NA nonsynonymous SNV METTL21D:NM_001040662:exon1:c.C188A:p.A63D,METTL21D:NM_024558:exon1:c.C188A:p.A63D exonic ENSG00000100483 NA nonsynonymous SNV ENSG00000100483:ENST00000395859:exon1:c.C188A:p.A63D,ENSG00000100483:ENST00000395860:exon1:c.C188A:p.A63D,ENSG00000100483:ENST00000491402:exon1:c.C188A:p.A63D NA NA 14q21.3 Score=849;Name=V$ZID_01 Name=Ini1,Pol2,HA-E2F1,NFKB,TAF1,ZNF263,Pol2(b) NA NA rs11157729 0.24 0.24 0.243 0.25 0.1461 0.4603 0.245 0.2216 0.182 0.15 0.44 0.2 0.19 0.2166 0.44 0.54 T 0.055 B 0.035 B 0.502 N 1.000 P 1.05 L 3.24 T -0.944 T 0.000 T 0.052 2.112 13.02 4.2 0.849 0.585 6.615 2.111626 2.111626 0.13 0.156163 0.19882 NA 0.145 NA 9.8144704 679 11 61165741 61165741 G C exonic;splicing TMEM216;TMEM216 NM_001173990:exon5:c.432-1G>C nonsynonymous SNV TMEM216:NM_001173991:exon5:c.G440C:p.R147T,TMEM216:NM_016499:exon5:c.G257C:p.R86T exonic;splicing ENSG00000187049;ENSG00000187049 ENST00000515837:exon5:c.432-1G>C,ENST00000398979:exon5:c.249-1G>C nonsynonymous SNV ENSG00000187049:ENST00000334888:exon5:c.G440C:p.R147T Score=468;Name=lod=106 NA 11q12.2 NA NA NA NA rs10897158 NA NA 0.717 0.719649 0.8549 0.9712 0.8386 0.295 0.8108 NA NA NA NA 0.8153 0.85 0.21 T . . . . . . 0.000 P . . -2.49 D -0.935 T 0.000 T 0.403 2.731 15.09 4.1 1.582 0.793 9.284 2.730605 2.730605 0.31 0.85 0.391996 ID=COSM1582850;OCCURENCE=1(meninges) 0.652 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114239.1;CLNDSDB=.;CLNDSDBID=. 9.8131334 679 10 61005244 61005244 G C exonic PHYHIPL NA nonsynonymous SNV PHYHIPL:NM_001143774:exon5:c.G946C:p.V316L,PHYHIPL:NM_032439:exon5:c.G1024C:p.V342L exonic ENSG00000165443 NA nonsynonymous SNV ENSG00000165443:ENST00000373878:exon5:c.G946C:p.V316L,ENSG00000165443:ENST00000373880:exon5:c.G1024C:p.V342L Score=803;Name=lod=2455 NA 10q21.1 Score=799;Name=V$MYOGNF1_01 NA NA NA rs2452505 0.77 0.77 0.725 0.739617 0.8688 0.8829 0.8703 0.4781 0.7198 0.87 0.87 0.86 0.45 0.8106 0.87 1 T 0.0 B 0.0 B 0.003 N 0.000 P -1.61 N 1.32 T -0.969 T 0.000 T 0.005 -0.625 1.226 5.56 1.359 1.542 10.076 -0.625495 NA 1 0.841744 0.539265 NA 0.696 NA 9.8121894 679 6 149721690 149721690 G A exonic SUMO4 NA nonsynonymous SNV SUMO4:NM_001002255:exon1:c.G163A:p.V55M exonic ENSG00000177688 NA nonsynonymous SNV ENSG00000177688:ENST00000326669:exon1:c.G163A:p.V55M Score=675;Name=lod=736 NA 6q25.1 NA NA NA NA rs237025 0.63 0.63 0.644 0.645966 0.4821 0.7361 0.5965 0.767 0.593 0.48 0.73 0.56 0.79 0.5551 0.79 1 T . . . . 0.019 N 0.000 P . . 1.53 T -0.970 T 0.007 T 0.021 -2.845 0 -0.47 -1.808 1.180 5.281 -2.845235 NA 1 0.485349 0.711303 NA 0.645 CLINSIG=other;CLNDBN=Diabetes_mellitus\x2c_insulin-dependent\x2c_5;CLNREVSTAT=single;CLNACC=RCV000002143.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1838260:600320 9.8107844 679 5 177683377 177683377 T C exonic COL23A1 NA nonsynonymous SNV COL23A1:NM_173465:exon15:c.A859G:p.T287A exonic ENSG00000050767 NA nonsynonymous SNV ENSG00000050767:ENST00000407622:exon14:c.A751G:p.T251A,ENSG00000050767:ENST00000390654:exon15:c.A859G:p.T287A NA NA 5q35.3 NA NA NA NA rs890802 0.51 0.51 0.507 0.521765 0.493 0.4335 0.5764 0.5953 0.5041 0.49 0.42 0.59 0.58 0.5213 0.59 0.76 T 0.024 B 0.023 B 0.459 N 1.000 P -0.23 N -1.64 D -1.098 T 0.000 T 0.042 -0.47 1.832 -8.84 -2.538 -2.929 6.539 -0.469521 NA 0.76 0.508875 0.58021 ID=COSM449419;OCCURENCE=1(breast) 0.536 NA 9.8101584 679 3 123988039 123988039 T C exonic KALRN NA synonymous SNV KALRN:NM_001024660:exon5:c.T900C:p.H300H,KALRN:NM_003947:exon5:c.T900C:p.H300H exonic ENSG00000160145 NA synonymous SNV ENSG00000160145:ENST00000240874:exon5:c.T900C:p.H300H,ENSG00000160145:ENST00000360013:exon5:c.T900C:p.H300H,ENSG00000160145:ENST00000460856:exon5:c.T900C:p.H300H Score=706;Name=lod=990 NA 3q21.2 Score=874;Name=V$NMYC_01 NA NA NA rs2272486 0.6 0.6 0.58 0.621805 0.6243 0.5337 0.6628 0.6483 0.6452 0.61 0.53 0.64 0.66 0.6193 0.66 . . . . . . . . 0.000 P . . . . -1.105 T 0.000 T . 0.955 8.895 -5.83 -1.658 -1.672 17.322 0.954903 NA NA 0.613398 0.648728 ID=COSM1484529,COSM445466;OCCURENCE=1(breast) 0.696 NA 9.8096686 679 5 41061716 41061716 A G exonic MROH2B NA nonsynonymous SNV MROH2B:NM_173489:exon6:c.T571C:p.W191R exonic ENSG00000171495 NA nonsynonymous SNV ENSG00000171495:ENST00000399564:exon6:c.T571C:p.W191R Score=470;Name=lod=108 NA 5p13.1 Score=833;Name=V$E4BP4_01 NA NA NA rs865093 0.76 0.76 0.771 0.783746 0.8459 0.6617 0.7608 0.8101 0.8262 0.84 0.6 0.78 0.82 0.8166 0.86 0.44 T 0.0 B 0.0 B 0.016 N 0.000 P -2.085 N 3.6 T -0.983 T 0.000 T 0.068 -0.009 3.969 3.94 1.485 1.434 5.056 -0.00867 NA 1 0.861643 0.81402 NA 0.551 NA 9.8091904 679 22 29533572 29533572 C G exonic KREMEN1 NA nonsynonymous SNV KREMEN1:NM_001039570:exon6:c.C874G:p.L292V,KREMEN1:NM_032045:exon6:c.C874G:p.L292V exonic ENSG00000183762 NA nonsynonymous SNV ENSG00000183762:ENST00000327813:exon6:c.C874G:p.L292V,ENSG00000183762:ENST00000400335:exon6:c.C874G:p.L292V,ENSG00000183762:ENST00000400338:exon6:c.C874G:p.L292V,ENSG00000183762:ENST00000407188:exon6:c.C868G:p.L290V NA NA 22q12.1 Score=814;Name=V$AP4_01 NA NA NA rs34920087 0.11 0.11 0.113 0.108427 0.1958 0.0427 0.111 0.0726 0.1329 0.2 0.02 0.11 0.09 0.1559 0.2 0.35 T 0.183 B 0.122 B 0.281 N 1.000 P 1.4 L 2.24 T -1.134 T 0.000 T 0.031 1.947 12.47 -8.68 -1.629 -0.438 20.475 1.946617 1.946617 0.23 0.173588 0.080513 NA 0.246 NA 9.8080454 679 11 6942695 6942695 C T exonic OR2D3 NA nonsynonymous SNV OR2D3:NM_001004684:exon1:c.C463T:p.R155W exonic ENSG00000178358 NA nonsynonymous SNV ENSG00000178358:ENST00000317834:exon1:c.C463T:p.R155W NA NA 11p15.4 Score=870;Name=V$HLF_01 NA NA NA rs12806437 0.15 0.15 0.124 0.170927 0.1581 0.2143 0.17 0.0408 0.316 0.16 0.2 0.16 0.04 0.1894 0.2 0.2 T 0.161 B 0.052 B 0.047 N 1.000 P 1.765 L 5.51 T -0.932 T 0.000 T 0.044 -0.041 3.804 -2.95 -0.292 -0.952 4.001 -0.041195 NA 0.09 0.178305 0.069514 ID=COSM147132;OCCURENCE=1(stomach) 0.101 NA 9.8075284 679 1 85594466 85594466 G A exonic WDR63 NA nonsynonymous SNV WDR63:NM_145172:exon21:c.G2393A:p.R798H exonic ENSG00000162643 NA nonsynonymous SNV ENSG00000162643:ENST00000484007:exon2:c.G239A:p.R80H,ENSG00000162643:ENST00000326813:exon20:c.G2276A:p.R759H,ENSG00000162643:ENST00000370596:exon20:c.G2276A:p.R759H,ENSG00000162643:ENST00000294664:exon21:c.G2393A:p.R798H Score=577;Name=lod=295 NA 1p22.3 NA NA NA NA rs709783 0.24 0.24 0.226 0.217652 0.1829 0.2133 0.2406 0.3245 0.0971 0.18 0.23 0.26 0.33 0.1751 0.33 0.28 T 0.001 B 0.0 B 0.009 N 0.914 P -0.815 N 1.08 T -1.026 T 0.016 T 0.068 -0.589 1.362 3.49 0.466 1.110 9.915 -0.5885 NA 0.85 0.168372 0.303677 ID=COSM1344585;OCCURENCE=1(large_intestine) 0.261 NA 9.8069614 679 7 47913579 47913579 T C exonic PKD1L1 NA nonsynonymous SNV PKD1L1:NM_138295:exon24:c.A3814G:p.K1272E exonic ENSG00000158683 NA nonsynonymous SNV ENSG00000158683:ENST00000289672:exon24:c.A3814G:p.K1272E NA NA 7p12.3 Score=867;Name=V$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 680 5 112929013 112929013 T A exonic YTHDC2 NA nonsynonymous SNV YTHDC2:NM_022828:exon29:c.T4226A:p.L1409Q exonic ENSG00000047188 NA nonsynonymous SNV ENSG00000047188:ENST00000161863:exon29:c.T4226A:p.L1409Q Score=558;Name=lod=247 NA 5q22.2 NA NA NA NA rs1132528 0.57 0.57 0.581 0.570887 0.496 0.3175 0.5922 0.9667 0.3589 0.52 0.33 0.56 0.96 0.5271 0.96 1 T 0.0 B 0.001 B 0.000 N 0.000 P -0.915 N 1.65 T -0.949 T 0.000 T 0.072 -0.008 3.972 5.98 1.087 2.386 10.669 -0.008205 NA 1 0.506279 0.901907 NA 0.667 NA 9.8039544 680 10 73472882 73472882 C T UTR3 C10orf105 NM_001164375:c.*2811G>A,NM_001168390:c.*2811G>A NA NA exonic ENSG00000107736 NA unknown UNKNOWN NA NA 10q22.1 NA Name=STAT1,STAT3 Name=6 NA rs2166631 0.41 0.41 0.407 0.441294 0.2505 0.4544 0.3559 0.6278 0.4325 0.26 0.45 0.39 0.61 0.3686 0.61 0.1 T . . . . . . 1.000 P . . . . -0.952 T 0.000 T 0.031 -0.83 0.6 -3.22 -1.439 -1.972 2.033 -0.829518 NA 0 0.246479 0.570205 NA 0.384 NA 9.8010877 680 14 105417103 105417103 G A exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.C4685T:p.P1562L exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.C4685T:p.P1562L NA NA 14q32.33 NA NA NA NA rs61996045 0.22 0.22 0.247 0.28155 0.5427 0.0883 0.3746 0.0719 0.4294 0.41 0.03 0.33 0.08 0.4499 0.54 0.61 T 0.94 P 0.66 P . . 1.000 P 2.685 M 4.12 T -1.036 T 0.000 T 0.171 2.421 14.05 2.86 0.547 2.086 3.467 2.421062 2.421062 0.34 0.539665 0.149282 NA NA NA 9.8010684 680 5 63905068 63905068 A G exonic RGS7BP NA nonsynonymous SNV RGS7BP:NM_001271890:exon4:c.A364G:p.I122V,RGS7BP:NM_001029875:exon6:c.A763G:p.I255V exonic ENSG00000186479 NA nonsynonymous SNV ENSG00000186479:ENST00000334025:exon6:c.A763G:p.I255V Score=640;Name=lod=530 NA 5q12.3 Score=867;Name=V$EVI1_01 NA NA NA rs889248 0.76 0.76 0.758 0.782149 0.839 0.6131 0.853 0.8359 0.7751 0.82 0.57 0.88 0.8 0.8321 0.88 1 T 0.0 B 0.001 B 0.000 N 1.000 P -0.55 N 1.79 T -0.972 T 0.000 T 0.066 -0.759 0.789 4.6 1.364 3.929 9.057 -0.759398 NA 1 0.861744 0.847935 ID=COSM149845;OCCURENCE=1(stomach) 0.87 NA 9.8004894 680 2 20974586 20974586 C T exonic C2orf43 NA nonsynonymous SNV C2orf43:NM_021925:exon4:c.G452A:p.R151Q exonic ENSG00000118961 NA nonsynonymous SNV ENSG00000118961:ENST00000432947:exon2:c.G62A:p.R21Q,ENSG00000118961:ENST00000403006:exon3:c.G62A:p.R21Q,ENSG00000118961:ENST00000412261:exon3:c.G308A:p.R103Q,ENSG00000118961:ENST00000435420:exon3:c.G308A:p.R103Q,ENSG00000118961:ENST00000541941:exon3:c.G62A:p.R21Q,ENSG00000118961:ENST00000237822:exon4:c.G452A:p.R151Q,ENSG00000118961:ENST00000381090:exon4:c.G452A:p.R151Q,ENSG00000118961:ENST00000440866:exon4:c.G452A:p.R151Q NA NA 2p24.1 NA NA NA NA rs114010802 0.01 0.01 0.007 0.00399361 0.0159 NA 0.0043 0.0008 NA 0.02 NA 0.01 0.002 0.0088 0.02 0.1 T 0.857 P 0.212 B 0.176 N 0.922 N 1.655 L 1.47 T -0.927 T 0.091 T 0.17 1.611 11.34 -5.05 -1.306 -0.373 5.737 1.610511 1.610511 0.01 0.008256 0.00227 NA 0.014 NA 9.8003774 680 5 130766662 130766662 T C exonic RAPGEF6 NA nonsynonymous SNV RAPGEF6:NM_016340:exon26:c.A4355G:p.Q1452R,RAPGEF6:NM_001164386:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164388:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164387:exon28:c.A4394G:p.Q1465R exonic ENSG00000158987,ENSG00000217128 NA nonsynonymous SNV ENSG00000158987:ENST00000509018:exon26:c.A4355G:p.Q1452R,ENSG00000158987:ENST00000296859:exon27:c.A4379G:p.Q1460R,ENSG00000158987:ENST00000507093:exon27:c.A4379G:p.Q1460R,ENSG00000217128:ENST00000514667:exon27:c.A4505G:p.Q1502R,ENSG00000158987:ENST00000307984:exon28:c.A4394G:p.Q1465R Score=499;Name=lod=142 NA 5q31.1 NA NA Name=27 NA rs1291602 0.89 0.89 0.899 0.899161 0.832 0.9028 0.9035 0.9781 0.8548 0.83 0.91 0.89 0.97 0.8598 0.97 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.085 N 2.83 T -0.959 T 0.000 T 0.071 0.63 7.387 5.22 1.351 5.197 14.342 0.629893 NA 1 0.84186 0.960281 NA 0.957 NA 9.7996734 680 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 680 11 125351472 125351472 A T exonic FEZ1 NA nonsynonymous SNV FEZ1:NM_005103:exon3:c.T369A:p.D123E exonic ENSG00000149557 NA nonsynonymous SNV ENSG00000149557:ENST00000278919:exon3:c.T369A:p.D123E Score=576;Name=lod=291 NA 11q24.2 NA NA NA NA rs597570 0.16 0.16 0.148 0.140974 0.1918 0.0635 0.1153 0.2262 0.0716 0.19 0.07 0.12 0.23 0.1565 0.24 0.54 T 0.425 B 0.192 B 0.040 N 0.000 P 1.61 L 1.56 T -1.006 T 0.000 T 0.11 1.893 12.29 3.0 0.801 2.214 9.188 1.892948 1.892948 0.09 0.186206 0.216038 NA 0.167 NA 9.7988274 680 12 102036305 102036305 C T exonic MYBPC1 NA synonymous SNV MYBPC1:NM_001254722:exon7:c.C621T:p.D207D,MYBPC1:NM_001254720:exon8:c.C663T:p.D221D,MYBPC1:NM_001254721:exon8:c.C642T:p.D214D,MYBPC1:NM_001254723:exon8:c.C660T:p.D220D,MYBPC1:NM_001254718:exon9:c.C699T:p.D233D,MYBPC1:NM_001254719:exon9:c.C699T:p.D233D,MYBPC1:NM_206820:exon9:c.C699T:p.D233D,MYBPC1:NM_206821:exon9:c.C699T:p.D233D,MYBPC1:NM_002465:exon11:c.C774T:p.D258D,MYBPC1:NM_206819:exon11:c.C774T:p.D258D exonic ENSG00000196091 NA synonymous SNV ENSG00000196091:ENST00000547405:exon7:c.C621T:p.D207D,ENSG00000196091:ENST00000392934:exon8:c.C660T:p.D220D,ENSG00000196091:ENST00000536007:exon8:c.C642T:p.D214D,ENSG00000196091:ENST00000541119:exon8:c.C663T:p.D221D,ENSG00000196091:ENST00000547509:exon8:c.C657T:p.D219D,ENSG00000196091:ENST00000360610:exon9:c.C699T:p.D233D,ENSG00000196091:ENST00000441232:exon9:c.C699T:p.D233D,ENSG00000196091:ENST00000452455:exon9:c.C699T:p.D233D,ENSG00000196091:ENST00000545503:exon9:c.C699T:p.D233D,ENSG00000196091:ENST00000550270:exon9:c.C699T:p.D233D,ENSG00000196091:ENST00000553190:exon9:c.C699T:p.D233D,ENSG00000196091:ENST00000549145:exon10:c.C738T:p.D246D,ENSG00000196091:ENST00000361466:exon11:c.C774T:p.D258D,ENSG00000196091:ENST00000361685:exon11:c.C774T:p.D258D,ENSG00000196091:ENST00000551300:exon12:c.C402T:p.D134D Score=472;Name=lod=111 NA 12q23.2 Score=816;Name=V$HMX1_01 Name=Max,Nrf1,E2F6_(H-50) Name=15 NA rs2293468 0.31 0.31 0.312 0.294329 0.2823 0.3879 0.2493 0.289 0.2495 0.29 0.38 0.25 0.31 0.3003 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.497043 1.497043 NA 0.286744 0.291194 NA 0.217 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117659.1;CLNDSDB=.;CLNDSDBID=. 9.7973226 680 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 681 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=Rad21,CTCF,CTCF_(SC-5916) 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 681 2 27799773 27799773 A C exonic C2orf16 NA nonsynonymous SNV C2orf16:NM_032266:exon1:c.A334C:p.N112H exonic ENSG00000221843 NA nonsynonymous SNV ENSG00000221843:ENST00000408964:exon1:c.A334C:p.N112H NA NA 2p23.3 NA NA NA NA rs115018606 0.01 0.01 0.005 0.00539137 0.0149 NA 0.0144 NA 0.002 0.01 NA 0.01 NA 0.0098 0.015 0.05 D 0.972 D 0.46 P . . 1.000 N 0.345 N 3.4 T -0.955 T 0.009 T 0.008 0.344 5.869 1.4 0.610 0.394 4.915 0.34447 NA 0.03 0.014742 0.002434 NA 0.007 NA 9.7938914 681 1 248059423 248059423 C T exonic OR2W3 NA nonsynonymous SNV OR2W3:NM_001001957:exon1:c.C535T:p.R179C exonic ENSG00000238243 NA nonsynonymous SNV ENSG00000238243:ENST00000360358:exon1:c.C535T:p.R179C,ENSG00000238243:ENST00000537741:exon3:c.C535T:p.R179C Score=381;Name=lod=47 NA 1q44 Score=799;Name=V$OLF1_01 NA NA NA rs10888267 0.42 0.42 0.382 0.388978 0.5308 0.5714 0.3487 0.1422 0.4172 0.54 0.52 0.36 0.17 0.4775 0.54 1 T 0.001 B 0.0 B 0.000 N 0.995 P -3.96 N 2.44 T -0.914 T 0.000 T 0.114 0.108 4.582 4.15 0.459 3.535 8.106 0.10807 NA 1 0.532093 0.230595 NA 0.413 NA 9.7929404 681 6 43418733 43418733 G A exonic DLK2 NA synonymous SNV DLK2:NM_023932:exon6:c.C696T:p.H232H,DLK2:NM_206539:exon6:c.C696T:p.H232H exonic ENSG00000171462 NA synonymous SNV ENSG00000171462:ENST00000357338:exon6:c.C696T:p.H232H,ENSG00000171462:ENST00000372485:exon6:c.C678T:p.H226H,ENSG00000171462:ENST00000372488:exon6:c.C696T:p.H232H,ENSG00000171462:ENST00000414245:exon6:c.C678T:p.H226H Score=464;Name=lod=103 NA 6p21.1 Score=794;Name=V$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 681 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$PAX4_01 NA NA NA rs4638862 0.4 0.4 0.394 0.35024 0.5298 0.4276 0.5202 0.0658 0.3497 0.55 0.44 0.48 0.07 0.4789 0.55 0.39 T 0.05 B 0.013 B 0.028 N 0.000 P . . 1.65 T -0.925 T 0.000 T 0.082 0.947 8.862 2.39 0.473 1.246 3.931 0.947087 NA 0.41 0.533256 0.157059 NA 0.348 NA 9.7913774 681 4 187113041 187113041 C G exonic CYP4V2 NA nonsynonymous SNV CYP4V2:NM_207352:exon1:c.C64G:p.L22V exonic ENSG00000145476 NA nonsynonymous SNV ENSG00000145476:ENST00000378802:exon1:c.C64G:p.L22V NA NA 4q35.2 NA Name=TAF1,HEY1,HA-E2F1,Pol2 Name=99 NA rs1055138 0.44 0.44 0.441 0.409744 0.5239 0.2748 0.438 0.4327 0.3804 0.54 0.3 0.47 0.43 0.5289 0.54 0.56 T 0.0 B 0.0 B 0.490 N 1.000 P 0 N -0.18 T -0.947 T 0.000 T 0.031 -1.923 0.008 0.679 -0.003 -1.333 7.120 -1.92289 NA 1 0.489447 0.412662 NA 0.029 CLINSIG=pathogenic|non-pathogenic|probable-non-pathogenic;CLNDBN=Bietti_crystalline_corneoretinal_dystrophy|not_specified|not_provided;CLNREVSTAT=single|single|single;CLNACC=RCV000032544.2|RCV000082840.1|RCV000132719.1;CLNDSDB=GeneReviews:MedGen:OMIM|.|.;CLNDSDBID=NBK91457:C1859486:210370|.|. 9.7910864 681 20 31622083 31622083 G A exonic BPIFB6 NA nonsynonymous SNV BPIFB6:NM_174897:exon3:c.G289A:p.V97I exonic ENSG00000167104 NA nonsynonymous SNV ENSG00000167104:ENST00000349552:exon3:c.G289A:p.V97I Score=443;Name=lod=84 NA 20q11.21 Score=805;Name=V$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 681 9 113166792 113166792 A T exonic SVEP1 NA nonsynonymous SNV SVEP1:NM_153366:exon39:c.T9481A:p.F3161I exonic ENSG00000165124 NA nonsynonymous SNV ENSG00000165124:ENST00000297826:exon4:c.T3259A:p.F1087I,ENSG00000165124:ENST00000374469:exon39:c.T9412A:p.F3138I,ENSG00000165124:ENST00000401783:exon39:c.T9481A:p.F3161I Score=449;Name=lod=89 NA 9q31.3 Score=913;Name=V$AREB6_02 NA NA NA rs3739451 0.11 0.11 0.083 0.108427 0.1839 0.0714 0.1888 0.0091 0.1462 0.17 0.08 0.18 0.02 0.1671 0.19 0.71 T 0.006 B 0.014 B 0.110 N 0.000 P -0.55 N 0.19 T -1.055 T 0.000 T 0.087 1.163 9.735 1.62 0.447 1.663 3.801 1.163258 NA 0.75 0.192953 0.03687 NA 0.188 NA 9.7893804 681 1 205027737 205027737 G A exonic CNTN2 NA nonsynonymous SNV CNTN2:NM_005076:exon5:c.G433A:p.A145T exonic ENSG00000184144 NA nonsynonymous SNV ENSG00000184144:ENST00000331830:exon5:c.G433A:p.A145T NA NA 1q32.1 NA NA NA NA rs2275697 0.23 0.23 0.193 0.293331 0.1511 0.4831 0.2781 0.1369 0.4663 0.14 0.47 0.22 0.11 0.2372 0.47 0.06 T 0.0 B 0.006 B 0.024 N 1.000 P 1.915 M -1.15 T -1.002 T 0.000 T 0.014 1.852 12.15 2.46 -0.047 2.103 8.859 1.852187 1.852187 0.16 0.15686 0.149115 NA 0.217 NA 9.7881734 681 4 164393117 164393117 T A exonic TKTL2 NA nonsynonymous SNV TKTL2:NM_032136:exon1:c.A1770T:p.Q590H exonic ENSG00000151005 NA nonsynonymous SNV ENSG00000151005:ENST00000280605:exon1:c.A1770T:p.Q590H Score=352;Name=lod=36 NA 4q32.2 Score=932;Name=V$MYB_Q6 NA NA NA rs11735477 0.19 0.19 0.198 0.170927 0.1909 0.2867 0.0778 0.1445 0.1329 0.2 0.28 0.09 0.14 0.1708 0.28 0.78 T 0.009 B 0.012 B 0.008 N 1.000 P 0.5 N -2.76 D -1.089 T 0.000 T 0.071 -0.712 0.934 -1.18 -0.076 -0.689 2.006 -0.711875 NA 0.68 0.184651 0.160009 ID=COSM1131191;OCCURENCE=1(prostate) 0.101 NA 9.7869824 682 19 57326721 57326721 C T exonic PEG3 NA nonsynonymous SNV PEG3:NM_001146186:exon7:c.G3089A:p.R1030Q,PEG3:NM_001146184:exon9:c.G3089A:p.R1030Q,PEG3:NM_001146185:exon9:c.G2711A:p.R904Q,PEG3:NM_001146187:exon9:c.G2717A:p.R906Q,PEG3:NM_006210:exon10:c.G3089A:p.R1030Q exonic ENSG00000198300 NA nonsynonymous SNV ENSG00000198300:ENST00000599534:exon7:c.G3089A:p.R1030Q,ENSG00000198300:ENST00000423103:exon9:c.G3089A:p.R1030Q,ENSG00000198300:ENST00000593695:exon9:c.G2711A:p.R904Q,ENSG00000198300:ENST00000598410:exon9:c.G2717A:p.R906Q,ENSG00000198300:ENST00000599577:exon9:c.G3089A:p.R1030Q,ENSG00000198300:ENST00000326441:exon10:c.G3089A:p.R1030Q NA NA 19q13.43 NA NA NA NA rs36044899 0.01 0.01 0.011 0.00898562 0.0209 0.001 0.0216 NA 0.0082 0.02 0.0017 0.03 NA 0.012 0.03 0.38 T 0.824 P 0.148 B 0.320 N . . 1.545 L 4.18 T -0.953 T 0.002 T 0.04 0.338 5.833 -7.62 -1.508 -0.594 3.489 0.337998 NA 0.36 0.01593 0.004312 NA NA NA 9.7845034 682 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 682 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 682 4 41015823 41015823 G A exonic APBB2 NA synonymous SNV APBB2:NM_001166050:exon6:c.C612T:p.G204G,APBB2:NM_004307:exon6:c.C612T:p.G204G,APBB2:NM_173075:exon6:c.C612T:p.G204G exonic ENSG00000163697 NA synonymous SNV ENSG00000163697:ENST00000295974:exon6:c.C612T:p.G204G,ENSG00000163697:ENST00000506352:exon6:c.C612T:p.G204G,ENSG00000163697:ENST00000508593:exon6:c.C612T:p.G204G,ENSG00000163697:ENST00000513140:exon6:c.C612T:p.G204G NA NA 4p14 Score=876;Name=V$IK1_01 Name=CTCF NA NA rs2292234 0.37 0.37 0.327 0.307308 0.3131 0.5387 0.2882 0.0484 0.4264 0.38 0.63 0.33 0.07 0.3284 0.63 . . . . . . . . 0.001 P . . . . . . . . . -1.384 0.025 -11.6 -4.040 -2.509 5.828 -1.383928 NA NA 0.242381 0.069 NA 0.254 NA 9.7827856 682 2 47382342 47382342 G T exonic C2orf61 NA nonsynonymous SNV C2orf61:NM_001163561:exon1:c.C49A:p.L17M,C2orf61:NM_173649:exon1:c.C49A:p.L17M exonic ENSG00000239605 NA nonsynonymous SNV ENSG00000239605:ENST00000294947:exon1:c.C49A:p.L17M,ENSG00000239605:ENST00000445927:exon1:c.C49A:p.L17M NA NA 2p21 NA Name=Pol2 NA NA rs815804 0.16 0.16 0.164 0.126597 0.1819 0.1458 0.1297 0.1021 0.0808 0.19 0.15 0.13 0.13 0.1656 0.2 0.03 D 0.911 P 0.474 P . . 1.000 P 0.69 N 1.03 T -1.042 T 0.000 T 0.084 1.69 11.61 0.373 0.057 -0.363 11.525 1.689502 1.689502 0 0.203837 0.135497 NA 0.101 NA 9.7819964 682 4 6596360 6596360 G A exonic MAN2B2 NA nonsynonymous SNV MAN2B2:NM_015274:exon7:c.G958A:p.V320M exonic ENSG00000013288 NA nonsynonymous SNV ENSG00000013288:ENST00000285599:exon7:c.G958A:p.V320M,ENSG00000013288:ENST00000504248:exon7:c.G805A:p.V269M Score=387;Name=lod=50 NA 4p16.1 Score=839;Name=V$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 682 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$SEF1_C NA Name=8 NA rs61744388 0.25 0.25 0.268 0.265575 0.1839 0.1478 0.1628 0.5348 0.18 0.19 0.15 0.16 0.53 0.1975 0.53 0.35 T 0.002 B 0.005 B 0.060 N 1.000 P 0.695 N -0.01 T -0.973 T 0.000 T 0.041 0.768 8.06 -10.1 -2.451 -0.947 25.247 0.767962 NA 0.44 0.171332 0.469493 NA 0.283 NA 9.7806014 682 22 37524619 37524619 G T exonic IL2RB NA nonsynonymous SNV IL2RB:NM_000878:exon10:c.C1173A:p.D391E exonic ENSG00000100385 NA nonsynonymous SNV ENSG00000100385:ENST00000216223:exon10:c.C1173A:p.D391E Score=278;Name=lod=18 NA 22q12.3 NA NA NA NA rs228942 0.2 0.2 0.15 0.180312 0.1839 0.2341 0.3098 0.0764 0.1697 0.19 0.25 0.3 0.08 0.1852 0.3 1 T 0.0 B 0.0 B 0.094 N 1.000 P -0.55 N 3.25 T -0.958 T 0.000 T 0.014 -0.77 0.759 2.16 0.543 -2.511 7.452 -0.769881 NA 1 0.184302 0.092147 NA 0.123 NA 9.7799314 682 1 248457993 248457993 C G exonic OR2T12 NA nonsynonymous SNV OR2T12:NM_001004692:exon1:c.G888C:p.K296N exonic ENSG00000177201 NA nonsynonymous SNV ENSG00000177201:ENST00000317996:exon1:c.G888C:p.K296N NA NA 1q44 NA NA NA NA rs11204625 0.19 0.19 0.153 0.213059 0.174 0.3591 0.2464 0.0091 0.3548 0.19 0.35 0.2 0.02 0.2092 0.35 0.22 T 0.952 P 0.703 P 0.103 U 1.000 P 2.105 M 1.02 T -1.060 T 0.000 T 0.086 1.589 11.27 -3.42 -0.825 -0.317 4.014 1.588879 1.588879 0.46 0.171395 0.044031 NA 0.116 NA 9.7787384 682 7 75513062 75513062 A G exonic RHBDD2 NA synonymous SNV RHBDD2:NM_001040456:exon3:c.A633G:p.A211A,RHBDD2:NM_001040457:exon4:c.A210G:p.A70A exonic ENSG00000005486 NA synonymous SNV ENSG00000005486:ENST00000428119:exon2:c.A210G:p.A70A,ENSG00000005486:ENST00000006777:exon3:c.A633G:p.A211A,ENSG00000005486:ENST00000318622:exon4:c.A210G:p.A70A NA NA 7q11.23 Score=770;Name=V$PAX6_01 Name=EBF Name=6 NA rs42183 0.98 0.98 0.986 0.986621 0.9592 1 0.9726 1 0.9928 0.96 1 0.96 1 0.9677 1 . . . . . . . . 1.000 P . . . . -1.062 T 0.000 T . -0.718 0.915 -9.73 -2.023 -2.514 9.397 -0.717836 NA NA 0.961108 0.993976 NA 0.993 NA 9.7786586 682 7 121653398 121653398 G A exonic PTPRZ1 NA nonsynonymous SNV PTPRZ1:NM_002851:exon12:c.G4298A:p.G1433D exonic ENSG00000106278 NA nonsynonymous SNV ENSG00000106278:ENST00000393386:exon12:c.G4298A:p.G1433D Score=325;Name=lod=28 NA 7q31.32 NA NA Name=12 NA rs1147504 0.63 0.63 0.645 0.679712 0.4672 0.6478 0.5663 0.9327 0.6697 0.45 0.66 0.56 0.93 0.5698 0.93 1 T 0.0 B 0.0 B 0.081 N 0.000 P -1.87 N 1.17 T -0.987 T 0.000 T 0.031 -0.217 2.951 3.22 0.476 1.465 5.906 -0.216791 NA 1 0.518488 0.873581 NA 0.645 NA 9.7778454 682 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 682 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 682 17 41931375 41931375 A G exonic CD300LG NA nonsynonymous SNV CD300LG:NM_001168323:exon3:c.A580G:p.T194A,CD300LG:NM_001168324:exon3:c.A427G:p.T143A,CD300LG:NM_001168322:exon4:c.A682G:p.T228A,CD300LG:NM_145273:exon4:c.A682G:p.T228A exonic ENSG00000161649 NA nonsynonymous SNV ENSG00000161649:ENST00000293396:exon3:c.A427G:p.T143A,ENSG00000161649:ENST00000377203:exon3:c.A580G:p.T194A,ENSG00000161649:ENST00000586233:exon3:c.A427G:p.T143A,ENSG00000161649:ENST00000317310:exon4:c.A682G:p.T228A,ENSG00000161649:ENST00000539718:exon4:c.A682G:p.T228A NA NA 17q21.31 NA NA NA NA rs12453522 0.22 0.22 0.23 0.230232 0.1988 0.001 0.1383 0.5688 0.1063 0.19 0.0017 0.18 0.55 0.1768 0.55 0.34 T 0.001 B 0.002 B 0.657 N 1.000 P 0.455 N 3.71 T -0.967 T 0.000 T 0.032 0.046 4.255 -2.95 -1.072 -1.508 1.933 0.046346 NA 0.19 0.180698 0.502497 NA 0.188 NA 9.7770354 682 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 683 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 683 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 683 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 683 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 683 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 683 9 7046901 7046901 C G exonic KDM4C NA nonsynonymous SNV KDM4C:NM_001146694:exon16:c.C2299G:p.Q767E,KDM4C:NM_001146695:exon16:c.C2299G:p.Q767E,KDM4C:NM_001146696:exon16:c.C2365G:p.Q789E,KDM4C:NM_015061:exon16:c.C2299G:p.Q767E exonic ENSG00000107077 NA nonsynonymous SNV ENSG00000107077:ENST00000420847:exon3:c.C331G:p.Q111E,ENSG00000107077:ENST00000428870:exon9:c.C1360G:p.Q454E,ENSG00000107077:ENST00000442236:exon14:c.C1534G:p.Q512E,ENSG00000107077:ENST00000536108:exon15:c.C1756G:p.Q586E,ENSG00000107077:ENST00000381306:exon16:c.C2299G:p.Q767E,ENSG00000107077:ENST00000381309:exon16:c.C2299G:p.Q767E,ENSG00000107077:ENST00000535193:exon16:c.C2365G:p.Q789E,ENSG00000107077:ENST00000543771:exon16:c.C2299G:p.Q767E Score=559;Name=lod=250 NA 9p24.1 NA NA NA NA rs1407856 0.19 0.19 0.166 0.22504 0.171 0.2937 0.2723 0.025 0.4468 0.18 0.27 0.25 0.05 0.2149 0.27 0.41 T 0.055 B 0.057 B 0.001 N 0.000 P 1.625 L 2.55 T -0.968 T 0.000 T 0.137 0.892 8.625 2.53 0.377 2.162 16.679 0.892374 NA 0.1 0.176628 0.052882 NA 0.116 NA 9.7708054 683 19 55175009 55175009 G T exonic LILRB4 NA nonsynonymous SNV LILRB4:NM_001081438:exon2:c.G54T:p.R18S,LILRB4:NM_006847:exon2:c.G54T:p.R18S exonic ENSG00000186818 NA nonsynonymous SNV ENSG00000186818:ENST00000270452:exon2:c.G54T:p.R18S,ENSG00000186818:ENST00000391733:exon2:c.G54T:p.R18S,ENSG00000186818:ENST00000391734:exon2:c.G54T:p.R18S,ENSG00000186818:ENST00000430952:exon2:c.G54T:p.R18S,ENSG00000186818:ENST00000434286:exon2:c.G54T:p.R18S,ENSG00000186818:ENST00000391736:exon4:c.G54T:p.R18S NA NA 19q13.42 NA NA NA NA rs11540761 0.17 0.17 0.193 0.195487 0.1799 0.124 0.2032 0.2118 0.2577 0.19 0.13 0.16 0.21 0.1972 0.22 0.42 T 1.0 D 0.998 D . . 1.000 P 2.865 M 7.22 T -0.896 T 0.000 T 0.486 1.1 9.489 1.28 0.312 0.498 6.865 1.100156 NA 0 0.185814 0.217204 NA 0.181 NA 9.7704194 683 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 683 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=TCF4,RXRA,HNF4G_(SC-6558) 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 683 15 40751555 40751555 C A exonic BAHD1 NA nonsynonymous SNV BAHD1:NM_014952:exon2:c.C892A:p.Q298K exonic ENSG00000140320 NA nonsynonymous SNV ENSG00000140320:ENST00000560846:exon1:c.C892A:p.Q298K,ENSG00000140320:ENST00000416165:exon2:c.C892A:p.Q298K,ENSG00000140320:ENST00000561234:exon2:c.C892A:p.Q298K Score=329;Name=lod=29 NA 15q15.1 NA NA NA NA rs3803357 0.68 0.68 0.642 0.675719 0.4742 0.7937 0.6239 0.8253 0.5961 0.5 0.82 0.59 0.83 0.5914 0.83 0.33 T 0.11 B 0.033 B 0.002 N 0.964 P -0.345 N 0.39 T -0.988 T 0.000 T 0.321 1.89 12.28 4.65 2.640 1.582 10.566 1.889719 1.889719 0 0.5 0.752158 ID=COSM433784;OCCURENCE=1(breast) 0.659 NA 9.7677334 683 10 73472868 73472868 C G UTR3 C10orf105 NM_001164375:c.*2825G>C,NM_001168390:c.*2825G>C NA NA exonic ENSG00000107736 NA unknown UNKNOWN NA NA 10q22.1 NA Name=STAT3,STAT1 Name=6 NA rs2394838 0.42 0.42 0.409 0.44988 0.2535 0.4544 0.3602 0.6536 0.4356 0.26 0.45 0.4 0.63 0.4034 0.63 0.39 T . . . . . . 1.000 P . . . . -0.941 T 0.000 T 0.054 -1.275 0.043 -2.1 -1.251 -1.417 2.296 -1.275419 NA 0 0.243209 0.579909 NA 0.399 NA 9.7665577 683 12 62696599 62696599 C T exonic USP15 NA synonymous SNV USP15:NM_001252078:exon3:c.C246T:p.H82H,USP15:NM_001252079:exon3:c.C246T:p.H82H,USP15:NM_006313:exon3:c.C246T:p.H82H exonic ENSG00000135655 NA synonymous SNV ENSG00000135655:ENST00000280377:exon3:c.C246T:p.H82H,ENSG00000135655:ENST00000312635:exon3:c.C246T:p.H82H,ENSG00000135655:ENST00000353364:exon3:c.C246T:p.H82H,ENSG00000135655:ENST00000393654:exon3:c.C246T:p.H82H,ENSG00000135655:ENST00000548836:exon3:c.C84T:p.H28H,ENSG00000135655:ENST00000549523:exon3:c.C246T:p.H82H Score=592;Name=lod=341 NA 12q14.1 Score=778;Name=V$HTF_01 NA NA NA rs11174420 0.3 0.3 0.305 0.31849 0.3082 0.1528 0.2392 0.4849 0.3313 0.29 0.17 0.26 0.48 0.2863 0.48 . . . . . . . . 0.000 P . . . . -0.907 T 0.000 T . 1.011 9.131 2.13 -0.090 1.279 9.341 1.011384 NA NA 0.306628 0.459147 NA 0.486 NA 9.7655386 684 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$ELK1_02 NA Name=8 NA rs1801287 0.28 0.28 0.262 0.282947 0.2952 0.3442 0.2911 0.1369 0.3988 0.3 0.35 0.29 0.14 0.3157 0.35 . . . . . . . . 0.000 P . . . . -1.056 T 0.000 T . 0.573 7.097 -10.6 -2.442 -1.746 8.234 0.573403 NA NA 0.292442 0.134362 ID=COSM426895;OCCURENCE=1(breast) 0.239 NA 9.7633246 684 15 42145936 42145936 G C exonic SPTBN5 NA nonsynonymous SNV SPTBN5:NM_016642:exon58:c.C9824G:p.A3275G exonic ENSG00000137877 NA nonsynonymous SNV ENSG00000137877:ENST00000320955:exon58:c.C9824G:p.A3275G NA NA 15q15.1 NA NA NA NA rs1197660 0.26 0.26 0.248 0.294329 0.3489 0.0337 0.2349 0.4523 0.3354 0.34 0.02 0.25 0.44 0.3848 0.44 0.4 T 0.58 P 0.279 B 0.021 N 1.000 P 2.32 M 1.36 T -0.921 T 0.000 T 0.293 2.696 14.97 2.86 0.542 2.647 9.168 2.695561 2.695561 0.35 0.337145 0.421066 NA 0.319 NA 9.7624884 684 1 206626607 206626607 G A exonic SRGAP2 NA unknown UNKNOWN exonic ENSG00000163486 NA synonymous SNV ENSG00000163486:ENST00000439126:exon11:c.G1083A:p.L361L,ENSG00000163486:ENST00000414007:exon16:c.G1821A:p.L607L,ENSG00000163486:ENST00000419187:exon16:c.G156A:p.L52L Score=604;Name=lod=381 NA 1q32.1 Score=782;Name=V$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 684 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 684 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 684 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 684 22 35463249 35463249 C T exonic ISX NA nonsynonymous SNV ISX:NM_001008494:exon1:c.C169T:p.P57S exonic ENSG00000175329 NA nonsynonymous SNV ENSG00000175329:ENST00000308700:exon1:c.C169T:p.P57S,ENSG00000175329:ENST00000404699:exon2:c.C169T:p.P57S NA NA 22q12.3 NA NA NA NA rs362090 0.58 0.58 0.562 0.57508 0.507 0.7827 0.5432 0.4448 0.6299 0.52 0.79 0.58 0.41 0.5727 0.79 0.76 T 0.002 B 0.001 B 0.304 N 1.000 P 0 N -2.72 D -0.975 T 0.000 T 0.022 0.867 8.515 -6.22 -0.993 -2.951 1.797 0.867336 NA 0.96 0.494186 0.474569 NA 0.384 NA 9.7594474 684 11 85445734 85445734 T C exonic SYTL2 NA nonsynonymous SNV SYTL2:NM_001162951:exon6:c.A635G:p.Q212R,SYTL2:NM_001162953:exon6:c.A638G:p.Q213R,SYTL2:NM_032943:exon7:c.A635G:p.Q212R exonic ENSG00000137501 NA nonsynonymous SNV ENSG00000137501:ENST00000524452:exon6:c.A635G:p.Q212R,ENSG00000137501:ENST00000527523:exon6:c.A491G:p.Q164R,ENSG00000137501:ENST00000528231:exon6:c.A635G:p.Q212R,ENSG00000137501:ENST00000316356:exon7:c.A638G:p.Q213R,ENSG00000137501:ENST00000389960:exon7:c.A635G:p.Q212R NA NA 11q14.1 NA NA NA NA rs35751209 0.02 0.02 0.013 0.0139776 0.0258 0.004 0.0331 0.0008 0.0164 0.03 0.01 0.03 0.002 0.0254 0.03 . . 0.799 P 0.39 B . . 1.000 N 1.78 L 1.79 T -1.083 T 0.030 T 0.173 -0.996 0.267 4.22 1.030 0.114 7.465 -0.995804 NA 0.07 0.022912 0.004539 NA 0.007 NA 9.7592214 684 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 684 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$HOX13_01 NA NA NA rs707555 0.87 0.87 0.876 0.846046 0.8648 0.7798 0.8055 0.9962 0.7209 0.86 0.79 0.84 0.99 0.8463 0.99 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.99 N 3.96 T -0.924 T 0.000 T 0.235 -0.175 3.147 5.13 1.304 4.387 16.134 -0.174947 NA 1 0.865698 0.970495 NA 0.891 NA 9.7565354 685 1 97981395 97981395 T C exonic DPYD NA nonsynonymous SNV DPYD:NM_000110:exon13:c.A1627G:p.I543V exonic ENSG00000188641 NA nonsynonymous SNV ENSG00000188641:ENST00000370192:exon13:c.A1627G:p.I543V Score=493;Name=lod=134 NA 1p21.3 NA NA NA NA rs1801159 0.2 0.2 0.217 0.184904 0.1879 0.2659 0.2666 0.1536 0.0828 0.17 0.26 0.19 0.2 0.193 0.26 1 T 0.0 B 0.0 B 0.007 N 0.000 P 0.14 N -0.8 T -1.011 T 0.053 T 0.023 2.06 12.85 -3.13 -0.215 1.371 9.702 2.060151 2.060151 1 0.19814 0.155243 NA 0.283 NA 9.7542934 685 1 67633812 67633812 G T exonic IL23R NA nonsynonymous SNV IL23R:NM_144701:exon2:c.G9T:p.Q3H exonic ENSG00000162594 NA nonsynonymous SNV ENSG00000162594:ENST00000347310:exon2:c.G9T:p.Q3H,ENSG00000162594:ENST00000371002:exon2:c.G9T:p.Q3H NA NA 1p31.3 Score=937;Name=V$AP1_C NA NA NA rs1884444 0.52 0.52 0.499 0.530152 0.5239 0.6369 0.3689 0.4713 0.6207 0.53 0.63 0.39 0.46 0.5285 0.63 0.48 T 0.002 B 0.005 B 0.329 N 1.000 P 0.69 N -1.97 D -1.029 T 0.181 T 0.068 -0.003 4.001 2.03 1.232 0.723 5.912 -0.002532 NA 0.62 0.527907 0.5 NA 0.551 NA 9.7530264 685 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=Rad21,TCF4,NRSF,RXRA,FOSL1_(SC-183),eGFP-FOS,c-Fos,Egr-1,GR,GATA-2,CHD2_(N-1250),FOSL2,Pol2,p300,Pol2-4H8,ELF1_(SC-631) 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 685 6 32134510 32134510 G A exonic EGFL8 NA nonsynonymous SNV EGFL8:NM_030652:exon4:c.G257A:p.R86K exonic ENSG00000241404 NA nonsynonymous SNV ENSG00000241404:ENST00000333845:exon4:c.G257A:p.R86K,ENSG00000241404:ENST00000395512:exon4:c.G257A:p.R86K,ENSG00000241404:ENST00000432129:exon4:c.G257A:p.R86K Score=435;Name=lod=78 NA 6p21.32 Score=843;Name=V$PAX4_01 NA NA NA rs3096697 0.14 0.14 0.153 0.155152 0.2008 0.0367 0.1023 0.2095 0.1943 0.2 0.04 0.09 0.21 0.1641 0.22 0.45 T 0.002 B 0.003 B . . 0.000 P 0.145 N 1.04 T -1.009 T 0.021 T 0.209 1.05 9.29 3.38 0.474 0.683 8.432 1.050493 NA 0.59 0.216395 0.187245 NA 0.181 NA 9.7520384 685 17 56405046 56405046 C T exonic BZRAP1 NA nonsynonymous SNV BZRAP1:NM_001261835:exon1:c.G236A:p.G79E,BZRAP1:NM_004758:exon1:c.G236A:p.G79E,BZRAP1:NM_024418:exon1:c.G236A:p.G79E exonic ENSG00000005379 NA nonsynonymous SNV ENSG00000005379:ENST00000268893:exon1:c.G236A:p.G79E,ENSG00000005379:ENST00000343736:exon1:c.G236A:p.G79E,ENSG00000005379:ENST00000355701:exon1:c.G236A:p.G79E NA NA 17q22 NA Name=PU.1,Pol2(b),Oct-2,Pbx3,ELF1_(SC-631),Pol2-4H8,POU2F2,CHD2_(N-1250),Pol2(phosphoS2),Pol2 Name=9 NA rs61743284 0.02 0.02 0.02 0.0157748 0.0338 NA 0.013 0.0015 0.0348 0.04 NA 0.01 NA 0.0218 0.04 0.82 T 0.675 P 0.344 B 0.172 N 1.000 N 1.39 L 3.65 T -1.000 T 0.004 T 0.047 1.043 9.261 0.886 -0.036 0.719 6.377 1.043284 NA 0 0.026047 0.00749 NA 0.014 NA 9.7516864 685 19 55715342 55715342 C T exonic PTPRH NA nonsynonymous SNV PTPRH:NM_002842:exon5:c.G694A:p.D232N exonic ENSG00000080031 NA nonsynonymous SNV ENSG00000080031:ENST00000376350:exon5:c.G694A:p.D232N NA NA 19q13.42 NA NA NA NA rs55870162 0.01 0.01 0.009 0.0179712 0.0278 0.001 0.0115 0.0038 0.0491 0.03 NA 0.01 0.01 0.0236 0.03 0.38 T 0.601 P 0.049 B 0.014 N 1.000 N 0.69 N 0.4 T -1.072 T 0.029 T 0.005 1.401 10.62 -2.09 -0.264 -1.476 5.788 1.400532 1.400532 0.81 0.030465 0.009305 NA 0.08 NA 9.7514684 685 14 75904660 75904660 A G exonic JDP2 NA nonsynonymous SNV JDP2:NM_001135047:exon2:c.A37G:p.T13A,JDP2:NM_001135048:exon2:c.A37G:p.T13A,JDP2:NM_001135049:exon2:c.A70G:p.T24A,JDP2:NM_130469:exon2:c.A37G:p.T13A exonic ENSG00000140044 NA nonsynonymous SNV ENSG00000140044:ENST00000267569:exon2:c.A70G:p.T24A,ENSG00000140044:ENST00000419727:exon2:c.A37G:p.T13A,ENSG00000140044:ENST00000435893:exon2:c.A37G:p.T13A,ENSG00000140044:ENST00000437176:exon2:c.A37G:p.T13A,ENSG00000140044:ENST00000559060:exon2:c.A37G:p.T13A Score=484;Name=lod=124 NA 14q24.3 Score=913;Name=V$NF1_Q6 NA NA NA rs3625 0.63 0.63 0.646 0.60643 0.5239 0.6567 0.4409 0.7859 0.5143 0.52 0.68 0.51 0.82 0.5298 0.82 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.975 N 0.7 T -0.949 T 0.000 T 0.225 -0.466 1.845 4.72 0.749 7.140 10.718 -0.466478 NA 1 0.528495 0.742961 NA 0.659 NA 9.7511384 685 11 62010863 62010863 C T exonic SCGB1D2 NA nonsynonymous SNV SCGB1D2:NM_006551:exon2:c.C158T:p.P53L exonic ENSG00000124935 NA nonsynonymous SNV ENSG00000124935:ENST00000244926:exon2:c.C158T:p.P53L NA NA 11q12.3 NA NA NA NA rs2232950 0.46 0.46 0.455 0.471046 0.337 0.7927 0.4251 0.2322 0.6329 0.34 0.8 0.44 0.26 0.4181 0.8 0.31 T 0.897 P 0.3 B 0.010 N 1.000 P . . 2.37 T -0.944 T 0.000 T 0.06 0.66 7.537 -4.87 -1.209 -6.574 5.506 0.659889 NA 0.63 0.327169 0.235922 NA 0.406 NA 9.7510644 685 6 2623930 2623930 G A exonic C6orf195 NA nonsynonymous SNV C6orf195:NM_152554:exon3:c.C127T:p.P43S exonic ENSG00000164385 NA nonsynonymous SNV ENSG00000164385:ENST00000296847:exon3:c.C127T:p.P43S NA NA 6p25.2 NA Name=BAF155,AP-2alpha,AP-2gamma,Ini1,Pol2 NA NA rs9503233 0.12 0.12 0.113 0.108227 0.2107 0.0337 0.1009 0.0832 0.1186 0.21 0.03 0.09 0.09 0.1706 0.21 0 D 0.112 B 0.02 B . . 1.000 P 0 N 1.06 T -1.016 T 0.018 T 0.014 0.324 5.756 -2.52 -0.617 -0.080 6.064 0.323829 NA NA 0.202904 0.100694 NA 0.109 NA 9.7491294 685 11 8947586 8947586 C G exonic C11orf16 NA nonsynonymous SNV C11orf16:NM_020643:exon5:c.G628C:p.V210L exonic ENSG00000176029 NA nonsynonymous SNV ENSG00000176029:ENST00000326053:exon5:c.G628C:p.V210L,ENSG00000176029:ENST00000525780:exon5:c.G628C:p.V210L NA NA 11p15.4 NA NA NA NA rs11042127 0.25 0.25 0.248 0.248602 0.1918 0.377 0.2003 0.2307 0.2331 0.19 0.37 0.22 0.22 0.2127 0.37 0.16 T 0.202 B 0.067 B 0.155 N 1.000 P 1.845 L 1.77 T -0.960 T 0.000 T 0.106 1.567 11.19 5.14 1.536 3.759 15.681 1.567084 1.567084 0.18 0.180051 0.21831 NA 0.145 NA 9.7487824 685 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 686 1 24393563 24393563 C T exonic MYOM3 NA nonsynonymous SNV MYOM3:NM_152372:exon28:c.G3371A:p.R1124Q exonic ENSG00000142661 NA nonsynonymous SNV ENSG00000142661:ENST00000329601:exon28:c.G3371A:p.R1124Q,ENSG00000142661:ENST00000330966:exon28:c.G3380A:p.R1127Q,ENSG00000142661:ENST00000374434:exon28:c.G3371A:p.R1124Q Score=423;Name=lod=70 NA 1p36.11 NA NA NA NA rs16829071 0.21 0.21 0.222 0.280351 0.1421 0.1964 0.1599 0.4871 0.3149 0.14 0.19 0.17 0.4 0.3076 0.4 0.06 T 0.0 B 0.0 B 0.000 N 0.000 P 0 N 0.64 T -0.981 T 0.000 T 0.036 2.412 14.02 5.53 0.941 5.362 11.538 2.411762 2.411762 0.03 0.138789 0.356824 NA 0.29 NA 9.7448444 686 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$EGR3_01 Name=Egr-1,SUZ12,ZNF263,SP1,Pol2,E2F6_(H-50) Name=87 NA rs1126442 0.16 0.16 0.136 0.139577 0.336 0.002 0.2017 0.0265 0.1881 0.34 0.0017 0.21 0.03 0.2679 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.036959 2.036959 NA 0.319241 0.065544 NA 0.065 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117172.2;CLNDSDB=.;CLNDSDBID=. 9.7435256 686 1 44086831 44086831 C T exonic PTPRF NA synonymous SNV PTPRF:NM_130440:exon32:c.C5556T:p.Y1852Y,PTPRF:NM_002840:exon33:c.C5583T:p.Y1861Y exonic ENSG00000142949 NA synonymous SNV ENSG00000142949:ENST00000372407:exon21:c.C2799T:p.Y933Y,ENSG00000142949:ENST00000422171:exon24:c.C3660T:p.Y1220Y,ENSG00000142949:ENST00000372413:exon30:c.C5556T:p.Y1852Y,ENSG00000142949:ENST00000372414:exon31:c.C5583T:p.Y1861Y,ENSG00000142949:ENST00000438120:exon32:c.C5556T:p.Y1852Y,ENSG00000142949:ENST00000359947:exon33:c.C5583T:p.Y1861Y Score=545;Name=lod=219 NA 1p34.2 NA Name=Nrf1 NA NA rs1143702 0.58 0.58 0.624 0.570487 0.6441 0.6855 0.5014 0.5507 0.4519 0.59 0.62 0.55 0.55 0.6132 0.67 . . . . . . . . 0.000 P . . . . -1.142 T 0.000 T . 0.682 7.649 -9.52 -2.452 -2.838 15.307 0.682443 NA NA 0.66593 0.581253 NA 0.696 NA 9.7434366 686 1 19175846 19175846 T C exonic TAS1R2 NA nonsynonymous SNV TAS1R2:NM_152232:exon4:c.A1456G:p.I486V exonic ENSG00000179002 NA nonsynonymous SNV ENSG00000179002:ENST00000375371:exon4:c.A1456G:p.I486V NA NA 1p36.13 Score=881;Name=V$FAC1_01 NA Name=13 NA rs28374389 0.15 0.15 0.117 0.125998 0.2087 0.002 0.245 0.1369 0.0695 0.2 0.0017 0.26 0.14 0.1755 0.26 0.51 T 0.0 B 0.0 B 0.168 N 1.000 P 0 N -2.34 D -1.105 T 0.000 T 0.014 -0.315 2.501 -1.92 -0.169 -0.359 9.840 -0.315238 NA 0.28 0.205698 0.148434 NA 0.254 NA 9.7434354 686 3 45052775 45052775 G C exonic EXOSC7 NA nonsynonymous SNV EXOSC7:NM_015004:exon8:c.G820C:p.V274L exonic ENSG00000075914 NA nonsynonymous SNV ENSG00000075914:ENST00000265564:exon8:c.G820C:p.V274L NA NA 3p21.31 NA Name=GR,CTCF Name=91 NA rs6794 0.67 0.67 0.67 0.705871 0.4841 0.9008 0.6239 0.7269 0.7628 0.5 0.92 0.6 0.72 0.594 0.92 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.02 N 1.32 T -0.979 T 0.000 T 0.128 -1.965 0.007 2.93 0.170 0.951 4.791 -1.965217 NA 1 0.512907 0.678393 NA 0.681 NA 9.7423264 686 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 686 6 74161801 74161801 G T exonic MB21D1 NA nonsynonymous SNV MB21D1:NM_138441:exon1:c.C104A:p.T35N exonic ENSG00000164430 NA nonsynonymous SNV ENSG00000164430:ENST00000370315:exon1:c.C104A:p.T35N,ENSG00000164430:ENST00000370318:exon1:c.C104A:p.T35N NA NA 6q13 NA Name=Ini1,Pol2,HA-E2F1,ELF1_(SC-631),E2F1,E2F4 Name=116 NA rs9352000 0.88 0.88 0.88 0.898363 0.8579 0.9484 0.8674 0.8949 0.9151 0.85 0.95 0.85 0.89 0.8795 0.95 0.44 T 0.0 B 0.0 B 0.203 N 1.000 P -1.245 N 1.91 T -1.027 T 0.006 T 0.026 -0.189 3.081 -4.54 -1.539 -2.751 2.67 -0.189021 NA 0.33 0.859375 0.886127 NA 0.891 NA 9.7365584 686 3 184071063 184071063 G C exonic CLCN2 NA nonsynonymous SNV CLCN2:NM_001171088:exon16:c.C1871G:p.T624S,CLCN2:NM_001171087:exon17:c.C1952G:p.T651S,CLCN2:NM_001171089:exon17:c.C2003G:p.T668S,CLCN2:NM_004366:exon17:c.C2003G:p.T668S exonic ENSG00000114859 NA nonsynonymous SNV ENSG00000114859:ENST00000434054:exon16:c.C1871G:p.T624S,ENSG00000114859:ENST00000265593:exon17:c.C2003G:p.T668S,ENSG00000114859:ENST00000344937:exon17:c.C1952G:p.T651S,ENSG00000114859:ENST00000457512:exon17:c.C2003G:p.T668S Score=346;Name=lod=34 NA 3q27.1 NA NA NA NA rs9820367 0.44 0.44 0.457 0.461262 0.5586 0.1032 0.3732 0.7103 0.456 0.55 0.08 0.46 0.69 0.4896 0.69 0.63 T 0.0 B 0.001 B 0.053 N 0.000 P -0.55 N -1.71 D -0.935 T 0.000 T 0.039 -0.496 1.724 4.72 1.395 0.790 8.349 -0.495842 NA 0.78 0.549884 0.679528 ID=COSM149533;OCCURENCE=1(stomach) 0.645 NA 9.7352494 687 12 52285086 52285086 G A exonic ANKRD33 NA nonsynonymous SNV ANKRD33:NM_001130015:exon6:c.G781A:p.V261I exonic ENSG00000167612 NA nonsynonymous SNV ENSG00000167612:ENST00000538991:exon5:c.G574A:p.V192I,ENSG00000167612:ENST00000340970:exon6:c.G781A:p.V261I NA NA 12q13.13 NA NA NA NA rs3180417 0.15 0.15 0.156 0.146965 0.1918 0.2004 0.134 0.0318 0.2106 0.19 0.21 0.14 0.05 0.2043 0.21 0.08 T 0.012 B 0.007 B . . 1.000 P . . 2.32 T -0.965 T 0.000 T . 3.246 16.88 -6.62 -1.026 -1.473 7.079 3.245934 3.245934 0.38 0.202907 0.06355 NA 0.181 NA 9.7343264 687 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 687 6 33052950 33052950 T C exonic HLA-DPB1 NA synonymous SNV HLA-DPB1:NM_002121:exon3:c.T588C:p.D196D exonic ENSG00000223865 NA synonymous SNV ENSG00000223865:ENST00000418931:exon3:c.T588C:p.D196D,ENSG00000223865:ENST00000428835:exon3:c.T519C:p.D173D NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs1042331 0.44 0.44 0.421 0.461661 0.3151 0.6171 0.3314 0.5976 0.3609 0.31 0.57 0.3 0.59 0.3253 0.59 . . . . . . . . 0.031 P . . . . -1.038 T 0.029 T . 0.672 7.596 -5.42 -1.636 -3.721 7.141 0.671728 NA NA 0.296235 0.557247 NA 0.384 NA 9.7300316 687 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 687 X 12924826 12924826 A G exonic TLR8 NA nonsynonymous SNV TLR8:NM_138636:exon1:c.A1G:p.M1V exonic ENSG00000101916 NA nonsynonymous SNV ENSG00000101916:ENST00000218032:exon1:c.A1G:p.M1V NA NA Xp22.2 NA NA NA NA rs3764880 0.44 0.44 0.43959 NA NA NA NA NA NA 0.27 0.79 0.42 0.31 0.3579 0.79 0 D 0.0 B 0.0 B . . 0.999 P . . 1.64 T -0.940 T 0.000 T 0.026 -0.935 0.369 -3.64 -1.451 -0.626 1.707 -0.934864 NA 0 0.247325 0.264146 NA 0.268 NA 9.7281084 687 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 687 19 14910654 14910654 T C exonic OR7C1 NA nonsynonymous SNV OR7C1:NM_198944:exon1:c.A295G:p.S99G exonic ENSG00000127530 NA nonsynonymous SNV ENSG00000127530:ENST00000248073:exon1:c.A295G:p.S99G NA NA 19p13.12 NA NA NA NA rs17230134 0.2 0.2 0.17 0.198882 0.2157 0.0486 0.2176 0.326 0.1513 0.22 0.03 0.22 0.32 0.1878 0.32 0 D 0.215 B 0.071 B 0.840 U 1.000 P 1.905 M 4.08 T -0.936 T 0.000 T 0.061 0.903 8.672 -0.988 -0.149 -5.089 8.155 0.903003 NA 0 0.202674 0.318202 NA 0.217 NA 9.7271594 687 1 23965704 23965704 A C ncRNA_exonic MDS2 NA NA NA exonic ENSG00000197880 NA nonsynonymous SNV ENSG00000197880:ENST00000374555:exon5:c.A109C:p.N37H NA NA 1p36.11 NA Name=p300,GATA-2 Name=53 NA rs10917403 0.28 0.28 0.255 0.274361 0.2505 0.4315 0.3963 0.0756 0.319 0.26 0.41 0.37 0.09 0.2848 0.41 0 D . . . . . . 1.000 P . . . . -0.954 T 0.000 T 0.05 -0.583 1.384 1.19 0.001 -1.009 6.825 -0.582502 NA NA 0.239076 0.121005 NA 0.254 NA 9.725624 688 14 61180657 61180657 T G exonic SIX4 NA nonsynonymous SNV SIX4:NM_017420:exon3:c.A1814C:p.H605P exonic ENSG00000100625 NA nonsynonymous SNV ENSG00000100625:ENST00000216513:exon3:c.A1814C:p.H605P Score=325;Name=lod=28 NA 14q23.1 NA NA NA NA rs3742636 0.67 0.67 0.641 0.645168 0.7177 0.6558 0.732 0.5567 0.6176 0.74 0.62 0.72 0.56 0.6868 0.74 0.11 T 0.838 P 0.367 B 0.119 N 0.000 P 0.55 N 0.8 T -0.903 T 0.000 T 0.398 1.933 12.42 5.44 2.071 3.674 15.514 1.932798 1.932798 0 0.704884 0.561734 NA 0.71 NA 9.7239494 688 6 33036999 33036999 T C exonic HLA-DPA1 NA nonsynonymous SNV HLA-DPA1:NM_033554:exon3:c.A425G:p.K142R,HLA-DPA1:NM_001242524:exon4:c.A425G:p.K142R,HLA-DPA1:NM_001242525:exon4:c.A425G:p.K142R exonic ENSG00000231389 NA nonsynonymous SNV ENSG00000231389:ENST00000428995:exon3:c.A425G:p.K142R,ENSG00000231389:ENST00000419277:exon4:c.A425G:p.K142R,ENSG00000231389:ENST00000453337:exon4:c.A425G:p.K142R Score=529;Name=lod=189 NA 6p21.32 NA Name=Pol2-4H8 NA NA rs1042190 0.39 0.39 0.36 0.430911 0.1889 0.6508 0.2824 0.5772 0.3609 0.17 0.62 0.25 0.55 0.2443 0.62 0.02 D 0.061 B 0.102 B 0.001 U 0.980 P 1.765 L 6.24 T -1.019 T 0.009 T 0.488 2.295 13.63 0.821 0.038 0.797 6.448 2.295035 2.295035 0.05 0.17621 0.459245 NA 0.21 NA 9.7239234 688 6 33036951 33036951 A G exonic HLA-DPA1 NA nonsynonymous SNV HLA-DPA1:NM_033554:exon3:c.T473C:p.L158P,HLA-DPA1:NM_001242524:exon4:c.T473C:p.L158P,HLA-DPA1:NM_001242525:exon4:c.T473C:p.L158P exonic ENSG00000231389 NA nonsynonymous SNV ENSG00000231389:ENST00000428995:exon3:c.T473C:p.L158P,ENSG00000231389:ENST00000419277:exon4:c.T473C:p.L158P,ENSG00000231389:ENST00000453337:exon4:c.T473C:p.L158P NA NA 6p21.32 Score=861;Name=V$E47_01 Name=Pol2-4H8 NA NA rs2308930 0.38 0.38 0.324 0.439097 0.1899 0.6796 0.2839 0.5802 0.3671 0.16 0.64 0.22 0.54 0.2474 0.64 1 T 0.0 B 0.0 B 0.705 N 1.000 P -2.3 N 4.21 T -0.965 T 0.000 T 0.51 -2.28 0.004 1.52 -0.065 -1.645 3.676 -2.279822 NA 1 0.173006 0.466534 NA 0.188 NA 9.7230274 688 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 688 19 58117399 58117399 C T exonic ZNF530 NA nonsynonymous SNV ZNF530:NM_020880:exon3:c.C506T:p.T169M exonic ENSG00000183647 NA nonsynonymous SNV ENSG00000183647:ENST00000332854:exon3:c.C506T:p.T169M,ENSG00000183647:ENST00000600619:exon3:c.C506T:p.T169M NA NA 19q13.43 NA NA NA NA rs11883343 0.07 0.07 0.054 0.0650958 0.0308 0.1657 0.0634 0.0356 0.0378 0.04 0.15 0.06 0.02 0.0474 0.15 0.09 T 0.963 D 0.579 P . . 1.000 P 1.685 L 4.67 T -0.955 T 0.000 T 0.038 1.114 9.544 -1.97 -0.777 -1.274 3.933 1.114244 NA 0.05 0.033953 0.033818 NA 0.029 NA 9.7211804 688 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 688 5 140174865 140174865 G C exonic PCDHA2 NA nonsynonymous SNV PCDHA2:NM_018905:exon1:c.G316C:p.V106L,PCDHA2:NM_031495:exon1:c.G316C:p.V106L exonic ENSG00000204969 NA nonsynonymous SNV ENSG00000204969:ENST00000378132:exon1:c.G316C:p.V106L,ENSG00000204969:ENST00000520672:exon1:c.G316C:p.V106L,ENSG00000204969:ENST00000526136:exon1:c.G316C:p.V106L Score=346;Name=lod=34 NA 5q31.3 NA Name=CTCF NA NA rs11167600 0.58 0.58 0.572 0.599042 0.5388 0.5317 0.6066 0.7481 0.5235 0.53 0.54 0.56 0.72 0.5469 0.72 1 T 0.001 B 0.001 B 0.008 N 0.000 P -2.515 N 0.62 T -0.915 T 0.000 T 0.034 -0.858 0.53 3.98 1.045 0.027 14.136 -0.858219 NA 1 0.52814 0.722424 NA 0.594 NA 9.7194934 688 6 28228342 28228342 A G exonic NKAPL NA nonsynonymous SNV NKAPL:NM_001007531:exon1:c.A1193G:p.E398G exonic ENSG00000189134 NA nonsynonymous SNV ENSG00000189134:ENST00000343684:exon1:c.A1193G:p.E398G Score=656;Name=lod=616 NA 6p22.1 Score=920;Name=V$TCF11_01 NA NA NA rs1679709 0.85 0.85 0.836 0.85004 0.8837 0.872 0.8732 0.7458 0.9172 0.88 0.86 0.88 0.77 0.8706 0.88 1 T 0.002 B 0.0 B 0.000 N 1.000 P -0.55 N 2.59 T -0.940 T 0.004 T 0.062 0.471 6.557 4.63 1.322 7.244 11.069 0.471002 NA 1 0.859651 0.741716 NA 0.768 NA 9.7193824 688 9 97349666 97349666 C G exonic FBP2 NA nonsynonymous SNV FBP2:NM_003837:exon2:c.G256C:p.V86L exonic ENSG00000130957 NA nonsynonymous SNV ENSG00000130957:ENST00000375337:exon2:c.G256C:p.V86L Score=638;Name=lod=521 NA 9q22.32 NA Name=CTCF NA NA rs573212 0.87 0.87 0.885 0.864816 0.8827 0.8125 0.8127 0.938 0.8384 0.87 0.81 0.83 0.95 0.8609 0.95 1 T 0.0 B 0.001 B 0.000 N 0.864 P -2.865 N 0.31 T -0.913 T 0.000 T 0.11 1.066 9.353 5.82 1.481 5.465 17.163 1.065974 NA 1 0.870465 0.919655 NA 0.877 NA 9.7192684 688 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 688 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 688 5 139941228 139941228 A G exonic APBB3 NA nonsynonymous SNV APBB3:NM_006051:exon7:c.T712C:p.C238R,APBB3:NM_133172:exon7:c.T706C:p.C236R,APBB3:NM_133173:exon7:c.T691C:p.C231R,APBB3:NM_133174:exon7:c.T685C:p.C229R exonic ENSG00000113108 NA nonsynonymous SNV ENSG00000113108:ENST00000508496:exon4:c.T22C:p.C8R,ENSG00000113108:ENST00000356738:exon7:c.T706C:p.C236R,ENSG00000113108:ENST00000412920:exon7:c.T685C:p.C229R,ENSG00000113108:ENST00000511201:exon7:c.T685C:p.C229R,ENSG00000113108:ENST00000354402:exon8:c.T712C:p.C238R,ENSG00000113108:ENST00000357560:exon8:c.T691C:p.C231R,ENSG00000113108:ENST00000358580:exon8:c.T691C:p.C231R Score=691;Name=lod=855 NA 5q31.3 Score=900;Name=V$USF_02 NA NA NA rs250430 0.9 0.9 0.905 0.905751 0.8807 0.8998 0.8775 0.9531 0.8937 0.88 0.9 0.88 0.95 0.8695 0.95 . . 0.0 B 0.0 B 0.000 N 0.134 P -2.495 N 2.05 T -0.962 T 0.000 T 0.128 -0.138 3.323 5.99 1.557 6.637 10.287 -0.13841 NA 1 0.864651 0.938947 NA 0.957 NA 9.7184824 688 8 110460488 110460488 G T exonic PKHD1L1 NA nonsynonymous SNV PKHD1L1:NM_177531:exon39:c.G5893T:p.V1965L exonic ENSG00000205038 NA nonsynonymous SNV ENSG00000205038:ENST00000378402:exon39:c.G5893T:p.V1965L NA NA 8q23.1 NA NA NA NA rs1673407 0.56 0.56 0.553 0.614417 0.5119 0.4048 0.6671 0.7474 0.7188 0.51 0.43 0.65 0.72 0.5673 0.76 0.8 T 0.0 B 0.006 B 0.014 N 1.000 P -1.245 N -1.5 D -1.001 T 0.000 T 0.079 -0.903 0.432 -3.17 -1.308 -1.884 2.484 -0.902887 NA 1 0.536249 0.726424 ID=COSM1454074;OCCURENCE=1(large_intestine) 0.659 NA 9.7178844 688 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$OCT1_02 NA NA NA rs1932618 0.89 0.89 0.89 0.905351 0.8569 0.9226 0.8977 0.9062 0.9417 0.85 0.92 0.89 0.9 0.8942 0.94 1 T 0.0 B 0.005 B 0.000 N 0.000 P 1.37 L 0.67 T -1.071 T 0.038 T 0.053 0.209 5.125 5.19 1.347 6.443 10.524 0.20865 NA 1 0.864535 0.918293 NA 0.906 NA 9.7176984 688 1 248512498 248512498 A G exonic OR14C36 NA nonsynonymous SNV OR14C36:NM_001001918:exon1:c.A422G:p.Q141R exonic ENSG00000177174 NA nonsynonymous SNV ENSG00000177174:ENST00000317861:exon1:c.A422G:p.Q141R NA NA 1q44 NA NA NA NA rs28448343 0.24 0.24 0.221 0.254393 0.1938 0.4276 0.2594 0.0923 0.3538 0.21 0.41 0.22 0.12 0.2321 0.41 0.49 T 0.988 D 0.93 D 0.300 N 1.000 P 1.345 L 8.74 T -1.060 T 0.000 T 0.056 1.306 10.28 -1.39 -0.119 -1.082 1.395 1.305831 1.305831 0.08 0.190349 0.10985 NA 0.21 NA 9.7170844 688 19 36050969 36050969 A G exonic ATP4A NA nonsynonymous SNV ATP4A:NM_000704:exon7:c.T794C:p.V265A exonic ENSG00000105675 NA nonsynonymous SNV ENSG00000105675:ENST00000262623:exon7:c.T794C:p.V265A Score=259;Name=lod=15 NA 19q13.12 Score=720;Name=V$NRSF_01 NA NA NA rs2733743 0.76 0.76 0.797 0.771565 0.8936 0.4653 0.6225 0.9871 0.7761 0.89 0.44 0.69 0.98 0.8228 0.98 1 T 0.0 B 0.0 B 0.000 N 0.992 P -2.995 N -2.56 D -0.941 T 0.000 T 0.127 -0.942 0.356 3.01 0.482 7.772 7.529 -0.94214 NA 1 0.89986 0.977758 NA 0.899 NA 9.7170734 688 6 31112737 31112737 C A exonic CCHCR1 NA nonsynonymous SNV CCHCR1:NM_001105563:exon14:c.G1882T:p.G628C,CCHCR1:NM_001105564:exon14:c.G1990T:p.G664C,CCHCR1:NM_019052:exon14:c.G1723T:p.G575C exonic ENSG00000204536 NA nonsynonymous SNV ENSG00000204536:ENST00000396263:exon12:c.G1564T:p.G522C,ENSG00000204536:ENST00000376266:exon14:c.G1723T:p.G575C,ENSG00000204536:ENST00000396268:exon14:c.G1990T:p.G664C,ENSG00000204536:ENST00000451521:exon14:c.G1882T:p.G628C Score=391;Name=lod=52 NA 6p21.33 NA NA NA NA rs130079 0.15 0.15 0.163 0.141773 0.2018 0.0377 0.1383 0.1649 0.1585 0.21 0.05 0.14 0.18 0.1784 0.24 0.08 T 0.12 B 0.105 B 0.768 N 0.873 P 2.015 M 2.87 T -1.016 T 0.015 T 0.222 1.858 12.17 1.49 0.446 1.297 7.474 1.857747 1.857747 0.15 0.236163 0.189514 NA 0.174 NA 9.7169704 689 9 113276356 113276356 C G exonic SVEP1 NA nonsynonymous SNV SVEP1:NM_153366:exon4:c.G995C:p.G332A exonic ENSG00000165124 NA nonsynonymous SNV ENSG00000165124:ENST00000302728:exon4:c.G995C:p.G332A,ENSG00000165124:ENST00000374461:exon4:c.G926C:p.G309A,ENSG00000165124:ENST00000374469:exon4:c.G926C:p.G309A,ENSG00000165124:ENST00000401783:exon4:c.G995C:p.G332A Score=459;Name=lod=98 NA 9q31.3 NA NA NA NA rs3818764 0.15 0.15 0.121 0.144369 0.2008 0.1081 0.2666 0.034 0.1861 0.18 0.11 0.27 0.06 0.2197 0.27 0.55 T 0.067 B 0.059 B 0.000 N 0.000 P -0.17 N 2.52 T -0.912 T 0.000 T 0.054 1.814 12.03 3.61 0.678 1.705 16.152 1.814249 1.814249 1 0.198183 0.055362 NA 0.196 NA 9.7146504 689 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=Pol2,c-Myc 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 689 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 689 6 87994572 87994572 G A exonic GJB7 NA nonsynonymous SNV GJB7:NM_198568:exon3:c.C59T:p.T20I exonic ENSG00000164411 NA nonsynonymous SNV ENSG00000164411:ENST00000296882:exon2:c.C59T:p.T20I,ENSG00000164411:ENST00000369576:exon2:c.C59T:p.T20I,ENSG00000164411:ENST00000525899:exon3:c.C59T:p.T20I Score=329;Name=lod=29 NA 6q14.3 NA NA NA NA rs4707358 0.64 0.64 0.634 0.684904 0.5149 0.6012 0.7061 0.8873 0.6575 0.52 0.57 0.7 0.86 0.5816 0.86 1 T 0.0 B 0.001 B 0.000 N 1.000 P -2.555 N -5.23 D -0.655 T 0.307 T 0.301 -1.953 0.007 2.72 0.003 4.870 4.981 -1.952911 NA 1 0.525465 0.838856 NA 0.522 NA 9.7113684 689 11 117869878 117869878 C T exonic IL10RA NA nonsynonymous SNV IL10RA:NM_001558:exon7:c.C1259T:p.S420L exonic ENSG00000110324 NA nonsynonymous SNV ENSG00000110324:ENST00000545409:exon6:c.C812T:p.S271L,ENSG00000110324:ENST00000227752:exon7:c.C1259T:p.S420L,ENSG00000110324:ENST00000541785:exon8:c.C1199T:p.S400L NA NA 11q23.3 NA NA NA NA rs2229114 0.03 0.03 0.019 0.0167732 0.0427 NA 0.0533 0.0015 0.002 0.05 NA 0.06 0.01 0.0319 0.06 0.02 D 0.588 P 0.103 B 0.752 N 1.000 N 2.075 M 1.4 T -1.025 T 0.011 T 0.077 2.438 14.11 1.82 0.420 0.608 2.383 2.437539 2.437539 0.01 0.049115 0.011136 NA 0.022 NA 9.7096184 689 8 1616718 1616718 A G exonic DLGAP2 NA synonymous SNV DLGAP2:NM_001277161:exon6:c.A1794G:p.E598E,DLGAP2:NM_004745:exon6:c.A1794G:p.E598E exonic ENSG00000198010 NA synonymous SNV ENSG00000198010:ENST00000421627:exon6:c.A1794G:p.E598E Score=389;Name=lod=51 NA 8p23.3 Score=749;Name=V$HEN1_02 NA NA NA rs2235112 0.48 0.48 0.462 0.533147 0.2594 0.5556 0.4611 0.7821 0.5061 0.26 0.55 0.4 0.79 0.4431 0.79 . . . . . . . . 0.000 P . . . . -1.034 T 0.000 T . -0.787 0.71 -3.57 -1.004 0.236 15.465 -0.787397 NA NA 0.255126 0.672801 NA 0.514 NA 9.7090406 689 X 84563135 84563135 T A exonic POF1B NA nonsynonymous SNV POF1B:NM_024921:exon10:c.A1045T:p.M349L exonic ENSG00000124429 NA nonsynonymous SNV ENSG00000124429:ENST00000262753:exon10:c.A1045T:p.M349L,ENSG00000124429:ENST00000373145:exon10:c.A1045T:p.M349L Score=548;Name=lod=225 NA Xq21.1 NA NA NA NA rs363774 0.9 0.9 0.89348 NA NA NA NA NA NA 0.81 0.97 0.86 0.96 0.853 0.97 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.845 N -1.55 D -0.947 T 0.000 T 0.079 -0.1 3.511 3.52 0.330 1.108 4.783 -0.099866 NA 1 0.772295 0.932725 NA 0.667 NA 9.7080384 690 X 153035798 153035798 G A exonic PLXNB3 NA nonsynonymous SNV PLXNB3:NM_005393:exon9:c.G1792A:p.V598I,PLXNB3:NM_001163257:exon10:c.G1861A:p.V621I exonic ENSG00000198753 NA nonsynonymous SNV ENSG00000198753:ENST00000538282:exon6:c.G622A:p.V208I,ENSG00000198753:ENST00000538543:exon6:c.G442A:p.V148I,ENSG00000198753:ENST00000538776:exon8:c.G751A:p.V251I,ENSG00000198753:ENST00000361971:exon9:c.G1792A:p.V598I,ENSG00000198753:ENST00000538966:exon10:c.G1861A:p.V621I NA NA Xq28 Score=919;Name=V$TCF11_01 NA NA NA rs2266879 0.37 0.37 0.37361 NA NA NA NA NA NA 0.63 0.1 0.34 0.29 0.4844 0.64 0.28 T 0.843 P 0.161 B 0.833 N 0.999 P 0.725 N 5.1 T -0.975 T 0.000 T 0.045 0.317 5.719 -2.94 -1.033 -0.430 11.210 0.317087 NA 0.27 0.644758 0.265743 ID=COSM1466598;OCCURENCE=1(large_intestine) 0.391 NA 9.7041754 690 2 27315252 27315252 G A exonic KHK NA nonsynonymous SNV KHK:NM_000221:exon2:c.G145A:p.V49I,KHK:NM_006488:exon2:c.G145A:p.V49I exonic ENSG00000138030 NA nonsynonymous SNV ENSG00000138030:ENST00000260598:exon2:c.G145A:p.V49I,ENSG00000138030:ENST00000260599:exon2:c.G145A:p.V49I,ENSG00000138030:ENST00000429697:exon2:c.G145A:p.V49I NA NA 2p23.3 NA NA NA NA rs2304681 0.34 0.34 0.322 0.33147 0.3767 0.2312 0.5043 0.3033 0.3037 0.35 0.26 0.48 0.32 0.3776 0.48 0.47 T 0.523 P 0.145 B 0.000 N 0.006 P 2.1 M -1.13 T -0.937 T 0.000 T 0.063 3.9 19.83 2.71 0.701 4.090 7.773 3.900193 3.900193 0.09 0.375698 0.317522 ID=COSM1407364,COSM1407365;OCCURENCE=1(large_intestine) 0.333 NA 9.7033354 690 15 57731573 57731573 C T exonic CGNL1 NA nonsynonymous SNV CGNL1:NM_032866:exon2:c.C1376T:p.S459F,CGNL1:NM_001252335:exon3:c.C1376T:p.S459F exonic ENSG00000128849 NA nonsynonymous SNV ENSG00000128849:ENST00000281282:exon2:c.C1376T:p.S459F NA NA 15q21.3 NA NA NA NA rs7182648 0.19 0.19 0.183 0.190495 0.2107 0.1994 0.1599 0.1899 0.183 0.21 0.18 0.16 0.17 0.2025 0.22 0.19 T 0.325 B 0.11 B 0.000 N 1.000 P 0.55 N 3.26 T -0.974 T 0.000 T 0.075 1.011 9.131 4.4 1.191 1.337 3.816 1.011341 NA 0.28 0.217498 0.206204 NA 0.254 NA 9.7026354 690 2 220402671 220402671 G T exonic ASIC4 NA nonsynonymous SNV ASIC4:NM_182847:exon9:c.G1847T:p.R616L exonic ENSG00000072182 NA nonsynonymous SNV ENSG00000072182:ENST00000347842:exon9:c.G1847T:p.R616L,ENSG00000072182:ENST00000358078:exon10:c.G1904T:p.R635L Score=265;Name=lod=16 NA 2q35 NA Name=Rad21,CTCF NA NA rs11689281 0.52 0.52 0.516 0.542133 0.5427 0.6706 0.451 0.3177 0.7771 0.54 0.67 0.51 0.35 0.5599 0.67 0.24 T 0.002 B 0.005 B 0.030 N 0.010 P 1.385 L 0.05 T -0.948 T 0.000 T 0.078 0.893 8.626 2.96 0.737 2.375 6.601 0.892657 NA 0.29 0.528372 0.333864 NA 0.413 NA 9.7023614 690 6 74125875 74125875 A G exonic DDX43 NA nonsynonymous SNV DDX43:NM_018665:exon16:c.A1873G:p.K625E exonic ENSG00000080007 NA nonsynonymous SNV ENSG00000080007:ENST00000370336:exon16:c.A1873G:p.K625E Score=440;Name=lod=82 NA 6q13 NA NA NA NA rs311686 0.49 0.49 0.485 0.490615 0.5726 0.5446 0.4481 0.3071 0.6288 0.58 0.55 0.46 0.31 0.5181 0.58 0.36 T 0.002 B 0.005 B 0.001 N 0.000 P 1.22 L 2.4 T -0.997 T 0.013 T 0.041 -0.048 3.769 4.11 1.022 2.479 6.871 -0.047946 NA 0.39 0.543837 0.370631 NA 0.63 NA 9.6987964 690 10 32128611 32128611 A G exonic ARHGAP12 NA nonsynonymous SNV ARHGAP12:NM_001270699:exon5:c.T1184C:p.F395S,ARHGAP12:NM_001270697:exon7:c.T1184C:p.F395S,ARHGAP12:NM_001270695:exon8:c.T1325C:p.F442S,ARHGAP12:NM_018287:exon8:c.T1325C:p.F442S exonic ENSG00000165322 NA nonsynonymous SNV ENSG00000165322:ENST00000311380:exon5:c.T1184C:p.F395S,ENSG00000165322:ENST00000375245:exon7:c.T1184C:p.F395S,ENSG00000165322:ENST00000344936:exon8:c.T1325C:p.F442S,ENSG00000165322:ENST00000396144:exon8:c.T1325C:p.F442S Score=621;Name=lod=445 NA 10p11.22 NA NA NA NA rs2808096 0.23 0.23 0.205 0.231829 0.2048 0.4127 0.2954 0.0545 0.2679 0.22 0.38 0.25 0.06 0.2179 0.38 0.44 T 0.0 B 0.001 B 0.002 N 0.000 P 0 N 1.33 T -0.906 T 0.000 T 0.2 1.718 11.71 3.15 0.443 1.817 6.421 1.71844 1.71844 0.31 0.212093 0.084203 NA 0.283 NA 9.6985404 690 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 690 11 96116444 96116444 T C exonic CCDC82 NA nonsynonymous SNV CCDC82:NM_024725:exon5:c.A980G:p.Q327R exonic ENSG00000149231 NA nonsynonymous SNV ENSG00000149231:ENST00000423339:exon2:c.A980G:p.Q327R,ENSG00000149231:ENST00000278520:exon4:c.A980G:p.Q327R,ENSG00000149231:ENST00000542662:exon6:c.A980G:p.Q327R Score=458;Name=lod=97 NA 11q21 NA NA NA NA rs10831519 0.25 0.25 0.261 0.226038 0.2217 0.3095 0.2262 0.2035 0.1748 0.21 0.33 0.23 0.21 0.2166 0.33 0.42 T 0.099 B 0.039 B 0.660 N 0.982 P 0.805 L 0.95 T -0.956 T 0.000 T 0.087 0.766 8.051 2.99 0.966 0.740 8.462 0.766048 NA 0.35 0.199348 0.222222 NA 0.181 NA 9.6956854 690 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 691 12 57843711 57843711 G A exonic INHBC NA nonsynonymous SNV INHBC:NM_005538:exon2:c.G965A:p.R322Q exonic ENSG00000175189 NA nonsynonymous SNV ENSG00000175189:ENST00000309668:exon2:c.G965A:p.R322Q NA NA 12q13.3 NA NA NA NA rs2229357 0.15 0.15 0.113 0.131989 0.1948 0.0675 0.3098 0.0779 0.0808 0.19 0.08 0.28 0.07 0.2182 0.28 . . 0.275 B 0.066 B 0.000 N 1.000 P 1.39 L -1.75 D -1.112 T 0.000 T 0.065 3.321 17.17 2.42 0.742 2.087 10.175 3.321303 3.321303 0.11 0.226744 0.095552 NA 0.109 NA 9.6935894 691 4 79443850 79443850 G A exonic FRAS1 NA nonsynonymous SNV FRAS1:NM_025074:exon69:c.G10696A:p.V3566I exonic ENSG00000138759 NA nonsynonymous SNV ENSG00000138759:ENST00000264895:exon69:c.G10696A:p.V3566I Score=420;Name=lod=68 NA 4q21.21 NA NA NA NA rs931606 0.51 0.51 0.533 0.510982 0.5477 0.4554 0.4496 0.5008 0.5879 0.54 0.49 0.47 0.51 0.5471 0.55 1 T 0.0 B 0.0 B 0.000 N 0.000 P -0.135 N 2.4 T -0.927 T 0.000 T 0.146 -0.568 1.441 4.93 1.158 2.447 4.841 -0.567626 NA 1 0.545145 0.518737 NA 0.42 NA 9.6933884 691 10 102222957 102222957 G C exonic WNT8B NA nonsynonymous SNV WNT8B:NM_003393:exon1:c.G32C:p.C11S exonic ENSG00000075290 NA nonsynonymous SNV ENSG00000075290:ENST00000343737:exon1:c.G32C:p.C11S Score=545;Name=lod=218 NA 10q24.31 NA NA NA NA rs3793771 0.19 0.19 0.185 0.186302 0.2008 0.129 0.1873 0.2012 0.2096 0.22 0.15 0.19 0.17 0.2127 0.23 0.59 T 0.0 B 0.0 B 0.156 N 1.000 P 0 N -0.71 T -1.082 T 0.000 T 0.027 0.506 6.745 4.72 0.486 1.476 8.145 0.506185 NA 0.61 0.226744 0.202905 NA 0.138 NA 9.6930894 691 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 691 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$YY1_01 NA Name=2 NA rs7522034 0.56 0.56 0.586 0.602037 0.4304 0.5456 0.4683 0.9228 0.498 0.44 0.5 0.43 0.9 0.4619 0.9 0.55 T 0.0 B 0.0 B . . 0.000 P . . 8.07 T -1.083 T 0.000 T . -1.417 0.022 -3.24 -0.475 0.015 1.400 -1.416738 NA 0.95 0.416047 0.821834 ID=COSM1179736;OCCURENCE=1(prostate) 0.587 NA 9.691653 691 9 125316350 125316350 C T exonic OR1N2 NA nonsynonymous SNV OR1N2:NM_001004457:exon1:c.C902T:p.T301M exonic ENSG00000171501 NA nonsynonymous SNV ENSG00000171501:ENST00000373688:exon1:c.C902T:p.T301M Score=321;Name=lod=27 NA 9q33.2 Score=871;Name=V$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 691 15 90174824 90174824 C T exonic KIF7 NA nonsynonymous SNV KIF7:NM_198525:exon15:c.G3013A:p.G1005R exonic ENSG00000166813 NA nonsynonymous SNV ENSG00000166813:ENST00000394412:exon15:c.G3013A:p.G1005R NA NA 15q26.1 Score=824;Name=V$SREBP1_02 Name=Pol2 NA NA rs12900805 0.47 0.47 0.433 0.439297 0.5626 0.3185 0.4496 0.4039 0.4775 0.56 0.35 0.51 0.44 0.5128 0.57 0.42 T 0.004 B 0.004 B 0.060 N 1.000 P 0.69 N 0.94 T -0.912 T 0.000 T 0.011 1.081 9.413 -0.473 -0.302 1.143 9.049 1.080912 NA 0.17 0.567432 0.460677 NA 0.428 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082815.3;CLNDSDB=.;CLNDSDBID=. 9.6905014 691 9 114476748 114476748 T A exonic C9orf84 NA nonsynonymous SNV C9orf84:NM_001080551:exon13:c.A2083T:p.M695L,C9orf84:NM_173521:exon15:c.A2200T:p.M734L exonic ENSG00000165181 NA nonsynonymous SNV ENSG00000165181:ENST00000394777:exon12:c.A1978T:p.M660L,ENSG00000165181:ENST00000394779:exon13:c.A2083T:p.M695L,ENSG00000165181:ENST00000318737:exon15:c.A2200T:p.M734L,ENSG00000165181:ENST00000374287:exon17:c.A2200T:p.M734L Score=289;Name=lod=20 NA 9q31.3 NA NA NA NA rs11791445 0.15 0.15 0.151 0.143371 0.2286 0.0268 0.196 0.1422 0.1401 0.23 0.03 0.19 0.15 0.1828 0.23 0.37 T 0.028 B 0.016 B 0.017 N 0.000 P 0.255 N 3.79 T -0.896 T 0.000 T 0.097 1.959 12.51 2.93 0.955 0.577 7.442 1.959296 1.959296 0.54 0.231512 0.174614 ID=COSM1179842,COSM1179843;OCCURENCE=1(prostate) 0.196 NA 9.6904214 691 11 124180082 124180082 A G exonic OR8D1 NA nonsynonymous SNV OR8D1:NM_001002917:exon1:c.T581C:p.L194P exonic ENSG00000196341 NA nonsynonymous SNV ENSG00000196341:ENST00000357821:exon1:c.T581C:p.L194P NA NA 11q24.2 Score=901;Name=V$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 691 1 177247854 177247854 C G exonic FAM5B NA nonsynonymous SNV FAM5B:NM_021165:exon7:c.C1168G:p.L390V exonic ENSG00000198797 NA nonsynonymous SNV ENSG00000198797:ENST00000361539:exon7:c.C1168G:p.L390V NA NA 1q25.2 NA Name=CTCF_(SC-5916),CTCF NA NA rs3176443 0.26 0.26 0.27 0.264577 0.2187 0.2113 0.2061 0.4017 0.2229 0.22 0.22 0.2 0.44 0.2178 0.44 1 T 0.0 B 0.001 B 0.001 N 1.000 P -1.59 N 2.74 T -0.911 T 0.000 T 0.071 -0.735 0.863 3.17 0.670 1.390 8.709 -0.73466 NA 1 0.20686 0.381298 NA 0.254 NA 9.6899734 691 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$PAX4_03 NA NA NA rs643423 0.64 0.64 0.641 0.682308 0.5497 0.8829 0.402 0.6936 0.7955 0.54 0.87 0.45 0.65 0.5742 0.87 0.92 T 0.005 B 0.002 B 0.777 N 1.000 P -0.145 N 1.67 T -0.992 T 0.000 T 0.269 -1.288 0.04 -4.75 -1.172 -2.208 11.945 -1.28751 NA 0.84 0.522352 0.650682 NA 0.754 NA 9.6870814 691 17 72610089 72610089 C T exonic CD300E NA nonsynonymous SNV CD300E:NM_181449:exon3:c.G472A:p.G158R exonic ENSG00000186407 NA nonsynonymous SNV ENSG00000186407:ENST00000328630:exon3:c.G472A:p.G158R,ENSG00000186407:ENST00000392619:exon3:c.G553A:p.G185R,ENSG00000186407:ENST00000426295:exon3:c.G595A:p.G199R NA NA 17q25.1 NA NA NA NA rs1878061 0.24 0.24 0.217 0.220048 0.4135 0.0794 0.2622 0.0953 0.3047 0.41 0.08 0.3 0.1 0.3321 0.41 0.51 T 0.84 P 0.166 B 0.001 U 1.000 P 0.69 N 3.91 T -0.883 T 0.000 T 0.153 -1.047 0.198 -5.75 -2.914 -2.366 2.733 -1.047342 NA 0.52 0.401977 0.157739 ID=COSM148340;OCCURENCE=1(stomach) 0.406 NA 9.6857564 691 16 426432 426432 T C exonic TMEM8A NA nonsynonymous SNV TMEM8A:NM_021259:exon6:c.A928G:p.I310V exonic ENSG00000129925 NA nonsynonymous SNV ENSG00000129925:ENST00000250930:exon6:c.A349G:p.I117V,ENSG00000129925:ENST00000431232:exon6:c.A928G:p.I310V NA NA 16p13.3 Score=858;Name=V$PAX3_01 NA NA NA rs2071915 0.5 0.5 0.489 0.532548 0.5378 0.3036 0.4712 0.6188 0.6902 0.54 0.28 0.49 0.68 0.5436 0.68 0.4 T 0.0 B 0.0 B 0.000 N 1.000 P -1.1 N 2.01 T -1.009 T 0.000 T 0.022 -1.684 0.012 -9.13 -5.232 -2.095 4.298 -1.684225 NA 1 0.566674 0.624375 NA 0.319 NA 9.6852594 691 5 137028029 137028029 T C exonic KLHL3 NA synonymous SNV KLHL3:NM_001257195:exon3:c.A225G:p.A75A,KLHL3:NM_001257194:exon5:c.A375G:p.A125A,KLHL3:NM_017415:exon5:c.A471G:p.A157A exonic ENSG00000146021 NA nonsynonymous SNV ENSG00000146021:ENST00000541417:exon3:c.A116G:p.H39R NA NA 5q31.2 Score=817;Name=V$OCT1_04 NA NA NA rs2905608 0.83 0.83 0.837 0.828075 0.7555 0.9821 0.7522 0.8185 0.8108 0.75 0.98 0.76 0.84 0.7926 0.98 0 D . . . . . . 0.000 P . . 0.23 T -0.944 T 0.000 T . 1.765 11.86 -9.49 -3.891 -3.781 0.381 1.765199 1.765199 NA 0.766744 0.802996 NA 0.768 NA 9.685156 692 19 33414420 33414420 A G exonic CEP89 NA nonsynonymous SNV CEP89:NM_032816:exon12:c.T1193C:p.V398A exonic ENSG00000121289 NA nonsynonymous SNV ENSG00000121289:ENST00000305768:exon12:c.T1193C:p.V398A Score=440;Name=lod=82 NA 19q13.11 NA NA NA NA rs4805825 0.31 0.31 0.312 0.288738 0.2167 0.501 0.2493 0.2194 0.2658 0.2 0.53 0.27 0.25 0.2319 0.53 0.32 T 0.006 B 0.009 B 0.053 N 0.000 P 1.735 L 0.72 T -0.927 T 0.000 T 0.182 1.571 11.21 3.02 0.817 3.189 7.825 1.570529 1.570529 0.46 0.200116 0.209355 NA 0.275 NA 9.6846174 692 20 61528271 61528271 C T exonic DIDO1 NA nonsynonymous SNV DIDO1:NM_001193369:exon7:c.G1666A:p.A556T,DIDO1:NM_001193370:exon7:c.G1666A:p.A556T,DIDO1:NM_033081:exon7:c.G1666A:p.A556T,DIDO1:NM_080797:exon7:c.G1666A:p.A556T exonic ENSG00000101191 NA nonsynonymous SNV ENSG00000101191:ENST00000266070:exon7:c.G1666A:p.A556T,ENSG00000101191:ENST00000395335:exon7:c.G1666A:p.A556T,ENSG00000101191:ENST00000395340:exon7:c.G1666A:p.A556T,ENSG00000101191:ENST00000395343:exon7:c.G1666A:p.A556T NA NA 20q13.33 NA NA NA NA rs1883847 0.26 0.26 0.24 0.279353 0.1948 0.3323 0.3112 0.3026 0.2577 0.18 0.31 0.31 0.28 0.2409 0.31 0.87 T 0.015 B 0.003 B 0.277 N 1.000 P 1.5 L 3.04 T -0.929 T 0.000 T 0.019 1.281 10.19 -8.25 -1.541 -1.603 12.688 1.281329 1.281329 0.39 0.213721 0.257603 ID=COSM149207;OCCURENCE=1(stomach) 0.188 NA 9.6839124 692 9 130536717 130536717 G A exonic SH2D3C NA nonsynonymous SNV SH2D3C:NM_170600:exon2:c.C67T:p.L23F exonic ENSG00000095370 NA nonsynonymous SNV ENSG00000095370:ENST00000314830:exon2:c.C67T:p.L23F Score=480;Name=lod=119 NA 9q34.11 NA NA NA NA rs10760500 0.55 0.55 0.507 0.536342 0.5249 0.8988 0.5101 0.208 0.637 0.52 0.91 0.49 0.24 0.5627 0.91 0 D 0.009 B 0.012 B 0.016 N 0.000 P 0.625 N 1.9 T -1.061 T 0.000 T 0.059 3.433 17.61 3.19 0.645 4.487 8.879 3.432706 3.432706 0 0.562558 0.268044 NA 0.522 NA 9.6831754 692 22 50435480 50435480 A G exonic IL17REL NA nonsynonymous SNV IL17REL:NM_001001694:exon14:c.T998C:p.L333P exonic ENSG00000188263 NA nonsynonymous SNV ENSG00000188263:ENST00000341280:exon12:c.T998C:p.L333P,ENSG00000188263:ENST00000389983:exon14:c.T998C:p.L333P NA Name=Ulcerative colitis 22q13.33 NA NA NA NA rs5771069 0.56 0.56 0.558 0.607029 0.5209 0.5536 0.4755 0.6505 0.7853 0.53 0.54 0.49 0.66 0.6274 0.66 0.26 T 0.0 B 0.0 B . . 1.000 P 0 N 1.67 T -0.949 T 0.000 T 0.021 0.545 6.947 -4.33 -1.041 -3.930 1.356 0.544605 NA 0.15 0.501863 0.606359 NA 0.551 NA 9.6831704 692 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 692 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 692 11 5462255 5462255 C G exonic OR51I1 NA nonsynonymous SNV OR51I1:NM_001005288:exon1:c.G490C:p.V164L exonic ENSG00000167359 NA nonsynonymous SNV ENSG00000167359:ENST00000380211:exon1:c.G490C:p.V164L Score=415;Name=lod=65 NA 11p15.4 Score=837;Name=V$IRF2_01 NA NA NA rs11037445 0.24 0.24 0.215 0.254593 0.2296 0.373 0.2493 0.2148 0.2157 0.22 0.33 0.25 0.17 0.2111 0.33 1 T 0.0 B 0.001 B 0.000 N 0.000 P -3.075 N 5.87 T -1.005 T 0.000 T 0.1 -0.859 0.528 3.61 0.315 0.780 8.237 -0.859342 NA 1 0.210728 0.205588 NA 0.21 NA 9.6819054 692 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 692 11 76912636 76912636 A T exonic MYO7A NA nonsynonymous SNV MYO7A:NM_000260:exon36:c.A4996T:p.S1666C,MYO7A:NM_001127180:exon36:c.A4882T:p.S1628C exonic ENSG00000137474 NA nonsynonymous SNV ENSG00000137474:ENST00000458169:exon16:c.A2422T:p.S808C,ENSG00000137474:ENST00000409709:exon36:c.A4996T:p.S1666C,ENSG00000137474:ENST00000458637:exon36:c.A4882T:p.S1628C,ENSG00000137474:ENST00000409619:exon37:c.A4849T:p.S1617C Score=483;Name=lod=122 NA 11q13.5 NA NA NA NA rs2276288 0.59 0.59 0.562 0.551717 0.5656 0.4524 0.6455 0.7254 0.3384 0.58 0.45 0.63 0.74 0.544 0.74 1 T 0.0 B 0.0 B 0.000 N 0.000 P . . 1.59 T -0.953 T 0.000 T 0.057 -0.697 0.981 3.46 0.791 2.920 9.008 -0.697003 NA 1 0.542543 0.681055 NA 0.601 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036174.1;CLNDSDB=.;CLNDSDBID=. 9.6811904 692 8 56686224 56686224 T C exonic TGS1 NA nonsynonymous SNV TGS1:NM_024831:exon1:c.T47C:p.I16T exonic ENSG00000137574 NA nonsynonymous SNV ENSG00000137574:ENST00000260129:exon1:c.T47C:p.I16T,ENSG00000137574:ENST00000523948:exon1:c.T47C:p.I16T NA NA 8q12.1 NA Name=Max,c-Myc,Mxi1_(bHLH),Pol2(b),TBP,AP-2gamma,AP-2alpha,Pol2,NFKB,Pol2-4H8,HEY1,GATA-1 Name=148 NA rs1818 0.87 0.87 0.87 0.860423 0.8897 0.9901 0.8775 0.7383 0.8497 0.89 1 0.88 0.7 0.871 1 0.5 T 0.09 B 0.036 B 0.638 N 1.000 P 1.79 L 2.88 T -0.921 T 0.000 T 0.153 1.124 9.583 3.81 1.009 1.986 7.739 1.124151 NA 0.18 0.891512 0.758284 NA 0.949 NA 9.6811214 692 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 692 14 50074122 50074122 T A exonic LRR1 NA nonsynonymous SNV LRR1:NM_152329:exon3:c.T287A:p.I96N exonic ENSG00000165501 NA nonsynonymous SNV ENSG00000165501:ENST00000298288:exon3:c.T287A:p.I96N,ENSG00000165501:ENST00000554869:exon4:c.T354A:p.H118Q Score=445;Name=lod=86 NA 14q21.3 NA NA NA NA rs17121605 0.2 0.2 0.19 0.188299 0.2296 0.0268 0.317 0.323 0.0389 0.22 0.05 0.3 0.27 0.2094 0.3 0.83 T 0.0 B 0.0 B 0.000 N 0.000 P -1.525 N 1.2 T -0.970 T 0.000 T 0.081 -0.429 2.002 4.43 0.494 3.432 7.886 -0.429268 NA 1 0.217492 0.303953 NA 0.188 NA 9.6768414 693 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$BRN2_01 NA NA NA rs10202624 0.85 0.85 0.885 0.853634 0.8986 0.8036 0.6369 0.9705 0.8548 0.9 0.8 0.69 0.98 0.8564 0.98 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.59 N 0.76 T -0.938 T 0.000 T 0.16 1.182 9.806 5.67 1.409 8.008 14.879 1.181731 NA 0.85 0.903466 0.944394 NA 0.87 NA 9.6748674 693 4 72618334 72618334 A C exonic GC NA nonsynonymous SNV GC:NM_000583:exon11:c.T1296G:p.D432E,GC:NM_001204306:exon12:c.T1296G:p.D432E,GC:NM_001204307:exon12:c.T1353G:p.D451E exonic ENSG00000145321 NA nonsynonymous SNV ENSG00000145321:ENST00000273951:exon11:c.T1296G:p.D432E,ENSG00000145321:ENST00000513476:exon11:c.T1296G:p.D432E,ENSG00000145321:ENST00000504199:exon12:c.T1353G:p.D451E NA NA 4q13.3 NA NA Name=4 NA rs7041 0.39 0.39 0.347 0.381589 0.5835 0.2996 0.5375 0.0938 0.5368 0.58 0.29 0.52 0.1 0.5159 0.58 0.43 T 0.0 B 0.001 B 0.231 N 1.000 P 1.085 L 2.22 T -0.939 T 0.000 T 0.036 0.725 7.855 -10.0 -1.287 -3.805 6.102 0.724733 NA 0.4 0.55907 0.173627 ID=COSM149688;OCCURENCE=1(stomach) 0.319 CLINSIG=non-pathogenic;CLNDBN=GC1/GC2_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000017357.1;CLNDSDB=.;CLNDSDBID=. 9.6748634 693 8 25203022 25203022 A G exonic DOCK5 NA synonymous SNV DOCK5:NM_024940:exon26:c.A2649G:p.T883T exonic ENSG00000147459 NA synonymous SNV ENSG00000147459:ENST00000276440:exon26:c.A2649G:p.T883T NA NA 8p21.2 Score=905;Name=V$MEIS1_01 Name=Rad21,c-Myc,SP1,Max,NRSF,c-Fos,GR,USF1_(SC-8983),GATA-2,Pol2,CTCF,E2F6_(H-50),BCL11A,GABP,c-Jun Name=128 NA rs2468902 0.97 0.97 0.974 0.974641 1 1 0.9914 0.9085 1 1 1 0.98 0.88 0.9921 1 . . . . . . . . 0.000 P . . . . -1.025 T 0.000 T . 0.842 8.402 -8.81 -1.505 -1.760 3.048 0.842121 NA NA 0.999767 0.919882 NA 0.768 NA 9.6747996 693 9 107360826 107360826 A G exonic OR13C5 NA nonsynonymous SNV OR13C5:NM_001004482:exon1:c.T869C:p.M290T exonic ENSG00000255800 NA nonsynonymous SNV ENSG00000255800:ENST00000374779:exon1:c.T869C:p.M290T Score=259;Name=lod=15 NA 9q31.1 NA NA NA NA rs1851725 0.38 0.38 0.402 0.436102 0.1789 0.5754 0.2277 0.6475 0.4192 0.17 0.58 0.22 0.6 0.2879 0.6 0.12 T 0.021 B 0.03 B 0.012 N 1.000 P 2.5 M 1.2 T -0.982 T 0.000 T 0.076 1.105 9.506 -0.085 -0.437 1.919 4.767 1.104528 NA 0.04 0.19407 0.584884 NA 0.478 NA 9.6724634 693 9 107360851 107360851 T C exonic OR13C5 NA nonsynonymous SNV OR13C5:NM_001004482:exon1:c.A844G:p.I282V exonic ENSG00000255800 NA nonsynonymous SNV ENSG00000255800:ENST00000374779:exon1:c.A844G:p.I282V NA NA 9q31.1 NA NA NA NA rs1523678 0.38 0.38 0.414 0.436102 0.1789 0.5754 0.2277 0.6475 0.4192 0.17 0.58 0.22 0.6 0.2879 0.6 0.08 T 0.0 B 0.001 B 0.843 N 1.000 P -1.12 N 9.06 T -0.956 T 0.000 T 0.055 0.442 6.399 -7.7 -2.857 -6.926 3.554 0.441735 NA 0.17 0.19407 0.584884 NA 0.478 NA 9.6724634 693 10 28378758 28378758 T C exonic MPP7 NA nonsynonymous SNV MPP7:NM_173496:exon14:c.A965G:p.K322R exonic ENSG00000150054 NA nonsynonymous SNV ENSG00000150054:ENST00000441595:exon7:c.A248G:p.K83R,ENSG00000150054:ENST00000445954:exon11:c.A590G:p.K197R,ENSG00000150054:ENST00000496637:exon11:c.A965G:p.K322R,ENSG00000150054:ENST00000540098:exon11:c.A965G:p.K322R,ENSG00000150054:ENST00000375732:exon12:c.A965G:p.K322R,ENSG00000150054:ENST00000337532:exon13:c.A965G:p.K322R,ENSG00000150054:ENST00000375719:exon14:c.A965G:p.K322R Score=629;Name=lod=480 NA 10p12.1 Score=763;Name=V$MEF2_04 NA NA NA rs2997211 0.92 0.92 0.928 0.931709 0.8757 0.9593 0.9496 0.9516 0.9213 0.87 0.95 0.94 0.96 0.9092 0.96 0.71 T 0.0 B 0.0 B 0.000 N 0.999 P -2.125 N 1.57 T -0.949 T 0.000 T 0.117 1.138 9.636 5.79 1.460 5.783 15.105 1.137817 NA 1 0.876744 0.947571 NA 0.957 NA 9.6716894 693 10 124610027 124610027 G A exonic FAM24B NA nonsynonymous SNV FAM24B:NM_001204364:exon3:c.C5T:p.P2L,FAM24B:NM_152644:exon3:c.C5T:p.P2L exonic ENSG00000213185 NA nonsynonymous SNV ENSG00000213185:ENST00000368896:exon3:c.C5T:p.P2L,ENSG00000213185:ENST00000368898:exon3:c.C5T:p.P2L NA NA 10q26.13 NA Name=c-Jun,USF-1,c-Fos Name=48 NA rs1891110 0.53 0.53 0.522 0.502396 0.5785 0.4931 0.4597 0.4834 0.4898 0.58 0.52 0.45 0.51 0.5284 0.58 0.23 T 0.0 B 0.0 B 0.956 U 1.000 P . . 1.1 T -0.926 T 0.000 T 0.016 -1.238 0.055 3.0 0.555 1.235 5.076 -1.23818 NA 0.81 0.554884 0.5202 NA 0.464 NA 9.6715494 693 4 187538942 187538942 T G exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon10:c.A8798C:p.Q2933P exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon10:c.A8798C:p.Q2933P Score=278;Name=lod=18 NA 4q35.2 Score=799;Name=V$AHR_01 NA NA NA rs1280098 0.66 0.66 0.645 0.592053 0.5467 0.631 0.6037 0.7655 0.3558 0.55 0.7 0.65 0.79 0.5554 0.79 1 T 0.0 B 0.0 B 0.000 N 0.998 P -2.73 N 0.79 T -0.940 T 0.000 T 0.061 -1.827 0.009 4.04 0.780 5.993 10.101 -1.827288 NA 1 0.560393 0.757764 NA 0.609 NA 9.6708404 693 17 34072555 34072555 G A exonic GAS2L2 NA nonsynonymous SNV GAS2L2:NM_139285:exon6:c.C1961T:p.A654V exonic ENSG00000132139 NA nonsynonymous SNV ENSG00000132139:ENST00000254466:exon6:c.C1961T:p.A654V,ENSG00000132139:ENST00000587565:exon7:c.C1913T:p.A638V Score=449;Name=lod=89 NA 17q12 NA NA NA NA rs3744374 0.22 0.22 0.225 0.201877 0.2068 0.127 0.1297 0.3714 0.0961 0.21 0.15 0.17 0.35 0.2109 0.35 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.1 N 3.16 T -0.924 T 0.000 T 0.07 -1.024 0.227 4.58 0.807 1.310 6.126 -1.024236 NA 0 0.245581 0.321834 ID=COSM1128751;OCCURENCE=1(prostate) 0.203 NA 9.6700524 693 7 99757612 99757612 G A exonic GAL3ST4 NA nonsynonymous SNV GAL3ST4:NM_024637:exon4:c.C1400T:p.A467V exonic ENSG00000197093 NA nonsynonymous SNV ENSG00000197093:ENST00000426974:exon2:c.C1214T:p.A405V,ENSG00000197093:ENST00000413800:exon3:c.C1400T:p.A467V,ENSG00000197093:ENST00000360039:exon4:c.C1400T:p.A467V Score=532;Name=lod=194 NA 7q22.1 NA NA NA NA rs3823646 0.49 0.49 0.515 0.506589 0.5586 0.6438 0.4222 0.3328 0.6063 0.56 0.6 0.41 0.32 0.5375 0.6 0.28 T 0.056 B 0.046 B 0.041 U 0.000 P 0.975 L 2.3 T -0.976 T 0.000 T 0.141 3.949 20.2 5.04 1.515 1.499 7.987 3.949298 3.949298 0.12 0.568256 0.385611 NA 0.457 NA 9.6689774 693 4 174253333 174253333 G A exonic HMGB2 NA synonymous SNV HMGB2:NM_001130689:exon4:c.C528T:p.G176G,HMGB2:NM_001130688:exon5:c.C528T:p.G176G,HMGB2:NM_002129:exon5:c.C528T:p.G176G exonic ENSG00000164104 NA synonymous SNV ENSG00000164104:ENST00000438704:exon4:c.C528T:p.G176G,ENSG00000164104:ENST00000296503:exon5:c.C528T:p.G176G,ENSG00000164104:ENST00000446922:exon5:c.C528T:p.G176G Score=641;Name=lod=536 NA 4q34.1 NA Name=ZNF263 Name=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 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.089754 NA NA NA NA NA NA NA 9.6666666 693 17 7907255 7907255 C T exonic GUCY2D NA synonymous SNV GUCY2D:NM_000180:exon3:c.C807T:p.T269T exonic ENSG00000132518 NA synonymous SNV ENSG00000132518:ENST00000254854:exon3:c.C807T:p.T269T NA NA 17p13.1 Score=858;Name=V$CDPCR1_01 Name=TBP,SUZ12 Name=2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000166 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.035637 NA NA NA NA NA NA NA 9.66665 693 16 30970190 30970190 C T exonic SETD1A NA synonymous SNV SETD1A:NM_014712:exon2:c.C138T:p.H46H exonic ENSG00000099381 NA synonymous SNV ENSG00000099381:ENST00000262519:exon2:c.C138T:p.H46H,ENSG00000099381:ENST00000452917:exon2:c.C138T:p.H46H Score=692;Name=lod=862 NA 16p11.2 Score=868;Name=V$ATF6_01 Name=Pol2 Name=7 NA rs139688166 0.0005 0.0005 NA 0.000798722 NA 0.003 NA 0.0008 NA NA 0.0017 NA NA 0.00005768 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 1.168519 NA NA 0 0.000455 NA NA NA 9.6666089 693 5 175956526 175956526 C T exonic RNF44 NA synonymous SNV RNF44:NM_014901:exon9:c.G1134A:p.T378T exonic ENSG00000146083 NA synonymous SNV ENSG00000146083:ENST00000274811:exon9:c.G1134A:p.T378T,ENSG00000146083:ENST00000537487:exon9:c.G891A:p.T297T NA NA 5q35.2 NA NA NA NA rs144106139 0.0009 0.0009 NA 0.00159744 NA NA NA 0.0061 NA NA NA NA 0.0041 0.001 0.01 . . . . . . . . 1.000 D . . . . -0.968 T 0.058 T . -1.353 0.028 -10.1 -2.172 -5.068 1.311 -1.353254 NA NA 0 0.009986 NA NA NA 9.6656666 694 18 33557466 33557466 A G exonic C18orf21 NA nonsynonymous SNV C18orf21:NM_001201474:exon3:c.A130G:p.T44A,C18orf21:NM_001201475:exon3:c.A130G:p.T44A,C18orf21:NM_031446:exon4:c.A394G:p.T132A exonic ENSG00000141428 NA nonsynonymous SNV ENSG00000141428:ENST00000269194:exon3:c.A130G:p.T44A,ENSG00000141428:ENST00000333234:exon3:c.A130G:p.T44A,ENSG00000141428:ENST00000587873:exon3:c.A130G:p.T44A,ENSG00000141428:ENST00000592875:exon4:c.A394G:p.T132A NA NA 18q12.2 NA NA NA NA rs2276314 0.24 0.24 0.247 0.2498 0.2137 0.248 0.1859 0.323 0.2352 0.21 0.26 0.15 0.34 0.2347 0.34 1 T 0.004 B 0.002 B 0.146 N 1.000 P 0.39 N 1.0 T -0.991 T 0.000 T 0.376 0.589 7.176 -9.47 -2.144 -1.358 13.271 0.588546 NA 0.96 0.222907 0.315479 NA 0.217 NA 9.6620264 694 15 50279662 50279662 T C exonic ATP8B4 NA nonsynonymous SNV ATP8B4:NM_024837:exon10:c.A674G:p.N225S exonic ENSG00000104043 NA nonsynonymous SNV ENSG00000104043:ENST00000284509:exon10:c.A674G:p.N225S,ENSG00000104043:ENST00000557955:exon10:c.A674G:p.N225S,ENSG00000104043:ENST00000559829:exon10:c.A674G:p.N225S Score=625;Name=lod=463 NA 15q21.2 NA NA Name=30 NA rs16963151 0.3 0.3 0.307 0.292133 0.2048 0.3304 0.2233 0.4274 0.2086 0.23 0.35 0.22 0.44 0.2507 0.44 0.86 T 0.0 B 0.006 B 0.018 N 0.989 P -0.41 N -0.84 T -1.020 T 0.000 T 0.013 1.422 10.69 -2.18 -0.281 0.064 6.200 1.42213 1.42213 0.31 0.217229 0.378188 NA 0.261 NA 9.6606044 694 3 133524717 133524717 G C exonic SRPRB NA nonsynonymous SNV SRPRB:NM_021203:exon2:c.G25C:p.V9L exonic ENSG00000144867 NA nonsynonymous SNV ENSG00000144867:ENST00000484684:exon1:c.G25C:p.V9L,ENSG00000144867:ENST00000466490:exon2:c.G25C:p.V9L NA NA 3q22.1 NA Name=PAX5-C20,Mxi1_(bHLH),Sin3Ak-20,c-Myc,Oct-2,Nrf1,Max,YY1_(C-20),YY1,Pol2(b),CCNT2,TBP,POU2F2,E2F6,HA-E2F1,CHD2_(N-1250),Pol2,Pol2(phosphoS2),HEY1,ELF1_(SC-631),Pol2-4H8,TAF1,NFKB Name=148 NA rs1107413 0.18 0.18 0.157 0.173123 0.2038 0.2262 0.2363 0.0825 0.1646 0.2 0.22 0.24 0.08 0.2186 0.25 0.21 T 0.0 B 0.0 B 0.060 U 1.000 P 1.04 L 2.54 T -1.061 T 0.000 T 0.224 0.125 4.67 0.767 0.256 -1.023 6.681 0.124636 NA 0.18 0.250523 0.114843 NA 0.21 NA 9.6604104 694 11 72295734 72295734 C T exonic PDE2A NA synonymous SNV PDE2A:NM_001143839:exon17:c.G1377A:p.A459A,PDE2A:NM_001243784:exon18:c.G1335A:p.A445A,PDE2A:NM_002599:exon18:c.G1398A:p.A466A,PDE2A:NM_001146209:exon19:c.G1371A:p.A457A exonic ENSG00000186642 NA synonymous SNV ENSG00000186642:ENST00000376450:exon8:c.G630A:p.A210A,ENSG00000186642:ENST00000475807:exon10:c.G870A:p.A290A,ENSG00000186642:ENST00000418754:exon14:c.G1053A:p.A351A,ENSG00000186642:ENST00000544570:exon17:c.G1377A:p.A459A,ENSG00000186642:ENST00000334456:exon18:c.G1398A:p.A466A,ENSG00000186642:ENST00000444035:exon18:c.G1371A:p.A457A,ENSG00000186642:ENST00000540345:exon19:c.G1371A:p.A457A Score=543;Name=lod=215 NA 11q13.4 Score=936;Name=V$GATA1_01 Name=USF-1 Name=28 NA rs150054293 0.0014 0.0014 NA 0.000798722 0.003 NA 0.0014 NA NA 0.0026 NA 0.0028 NA 0.0016 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.605592 2.605592 NA 0.002329 0.001364 NA NA NA 9.6597376 694 17 72233559 72233559 G A exonic TTYH2 NA nonsynonymous SNV TTYH2:NM_032646:exon4:c.G541A:p.V181I exonic ENSG00000141540 NA nonsynonymous SNV ENSG00000141540:ENST00000269346:exon4:c.G541A:p.V181I,ENSG00000141540:ENST00000529107:exon4:c.G478A:p.V160I Score=300;Name=lod=22 NA 17q25.1 NA NA NA NA rs62621376 0.19 0.19 0.205 0.222045 0.2147 0.0298 0.1455 0.3517 0.3067 0.23 0.03 0.14 0.36 0.2233 0.36 0.55 T 0.265 B 0.078 B 0.005 N 0.000 P -0.29 N 2.82 T -0.918 T 0.000 T 0.061 -0.313 2.51 -2.01 -0.453 1.290 11.549 -0.313099 NA 1 0.237209 0.328416 NA 0.203 NA 9.6581244 694 2 170493103 170493103 T A exonic PPIG NA nonsynonymous SNV PPIG:NM_004792:exon14:c.T1335A:p.D445E exonic ENSG00000138398 NA nonsynonymous SNV ENSG00000138398:ENST00000433207:exon11:c.T1314A:p.D438E,ENSG00000138398:ENST00000409714:exon13:c.T1290A:p.D430E,ENSG00000138398:ENST00000260970:exon14:c.T1335A:p.D445E,ENSG00000138398:ENST00000448752:exon14:c.T1335A:p.D445E Score=730;Name=lod=1231 NA 2q31.1 NA NA NA NA rs1050354 0.55 0.55 0.581 0.584265 0.5378 0.4296 0.4625 0.7595 0.6411 0.54 0.43 0.51 0.71 0.5724 0.72 0.5 T 0.02 B 0.007 B 0.000 D 0.000 P 0.345 N 2.52 T -1.038 T 0.000 T 0.066 0.624 7.359 4.74 1.028 0.739 10.071 0.624371 NA 0.36 0.566979 0.72484 ID=COSM148985;OCCURENCE=1(stomach) 0.609 NA 9.6561544 694 2 133542574 133542574 C T exonic NCKAP5 NA nonsynonymous SNV NCKAP5:NM_207363:exon14:c.G1810A:p.V604M exonic ENSG00000176771 NA nonsynonymous SNV ENSG00000176771:ENST00000317721:exon12:c.G1810A:p.V604M,ENSG00000176771:ENST00000409261:exon14:c.G1810A:p.V604M NA NA 2q21.2 Score=941;Name=V$P53_02 NA NA NA rs61995744 0.19 0.19 0.168 0.178914 0.2237 0.25 0.1844 0.0514 0.228 0.24 0.27 0.16 0.06 0.2182 0.27 0.17 T 0.001 B 0.002 B 0.702 U 0.000 P 0.345 N 0.96 T -1.044 T 0.000 T 0.03 -0.417 2.054 -9.81 -2.769 -0.453 3.269 -0.417081 NA 0.01 0.235485 0.073783 NA 0.254 NA 9.6559484 695 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 695 1 201183402 201183402 T C exonic IGFN1 NA synonymous SNV IGFN1:NM_001164586:exon13:c.T8826C:p.P2942P exonic ENSG00000163395 NA synonymous SNV ENSG00000163395:ENST00000295591:exon13:c.T306C:p.P102P,ENSG00000163395:ENST00000335211:exon13:c.T8826C:p.P2942P,ENSG00000163395:ENST00000437879:exon14:c.T1455C:p.P485P,ENSG00000163395:ENST00000451870:exon14:c.T1455C:p.P485P Score=462;Name=lod=101 NA 1q32.1 NA NA NA NA rs1568810 0.33 0.33 0.275 0.315695 0.3509 0.3403 0.3256 0.1891 0.4182 0.35 0.37 0.32 0.23 0.3305 0.37 . . . . . . . . 0.000 P . . . . -1.028 T 0.000 T . 2.084 12.92 -4.06 -1.670 -0.981 11.660 2.083537 2.083537 NA 0.333605 0.219246 NA 0.239 NA 9.6516616 695 19 10449358 10449358 T C exonic ICAM3 NA nonsynonymous SNV ICAM3:NM_002162:exon2:c.A343G:p.R115G exonic ENSG00000076662 NA nonsynonymous SNV ENSG00000076662:ENST00000160262:exon2:c.A343G:p.R115G,ENSG00000076662:ENST00000589261:exon2:c.A112G:p.R38G,ENSG00000076662:ENST00000589249:exon3:c.A112G:p.R38G,ENSG00000076662:ENST00000590569:exon3:c.A310G:p.R104G NA NA 19p13.2 NA NA Name=3 NA rs7258015 0.17 0.17 0.162 0.178914 0.2356 0.1141 0.1744 0.1392 0.2444 0.24 0.12 0.19 0.12 0.2188 0.24 . . 0.0 B 0.003 B 0.720 N 0.000 P 0.805 L 1.86 T -1.027 T 0.000 T 0.027 1.901 12.32 -11.5 -2.000 -2.406 6.787 1.901485 1.901485 0.31 0.228721 0.169088 ID=COSM1390081;OCCURENCE=1(large_intestine) 0.297 NA 9.6502124 695 18 34850846 34850846 G A exonic CELF4 NA synonymous SNV CELF4:NM_001025087:exon8:c.C981T:p.A327A,CELF4:NM_001025088:exon8:c.C978T:p.A326A,CELF4:NM_001025089:exon8:c.C954T:p.A318A,CELF4:NM_020180:exon8:c.C984T:p.A328A exonic ENSG00000101489 NA synonymous SNV ENSG00000101489:ENST00000587657:exon2:c.C51T:p.A17A,ENSG00000101489:ENST00000588591:exon2:c.C63T:p.A21A,ENSG00000101489:ENST00000589386:exon2:c.C51T:p.A17A,ENSG00000101489:ENST00000593271:exon2:c.C51T:p.A17A,ENSG00000101489:ENST00000334919:exon8:c.C954T:p.A318A,ENSG00000101489:ENST00000361795:exon8:c.C978T:p.A326A,ENSG00000101489:ENST00000412753:exon8:c.C981T:p.A327A,ENSG00000101489:ENST00000420428:exon8:c.C984T:p.A328A,ENSG00000101489:ENST00000588597:exon8:c.C951T:p.A317A,ENSG00000101489:ENST00000591282:exon8:c.C984T:p.A328A,ENSG00000101489:ENST00000591287:exon8:c.C981T:p.A327A,ENSG00000101489:ENST00000601019:exon8:c.C978T:p.A326A,ENSG00000101489:ENST00000603232:exon8:c.C981T:p.A327A Score=603;Name=lod=377 NA 18q12.2 NA Name=NRSF NA NA rs1443638 0.24 0.24 0.271 0.215455 0.3529 0.2272 0.17 0.1324 0.2065 0.36 0.23 0.2 0.12 0.2975 0.37 0.03 D . . . . . . 0.000 P . . . . -0.960 T 0.000 T . 1.162 9.731 -3.97 -0.730 -0.355 13.690 1.162181 NA 0.06 0.366512 0.185656 NA 0.355 NA 9.6497546 695 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=c-Myc,HA-E2F1,CTCF 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 695 12 77449790 77449790 A G exonic E2F7 NA nonsynonymous SNV E2F7:NM_203394:exon3:c.T214C:p.F72L exonic ENSG00000165891 NA nonsynonymous SNV ENSG00000165891:ENST00000322886:exon3:c.T214C:p.F72L,ENSG00000165891:ENST00000416496:exon3:c.T214C:p.F72L,ENSG00000165891:ENST00000547316:exon3:c.T214C:p.F72L,ENSG00000165891:ENST00000550669:exon3:c.T214C:p.F72L Score=313;Name=lod=25 NA 12q21.2 NA NA NA NA rs310791 0.87 0.87 0.856 0.855631 0.8956 0.998 0.889 0.6581 0.911 0.89 1 0.88 0.67 0.8926 1 1 T 0.0 B 0.0 B 0.007 N 1.000 P -1.5 N -1.83 D -0.931 T 0.000 T 0.234 -0.752 0.81 5.7 1.421 3.374 6.263 -0.752455 NA 1 0.896512 0.724921 NA 0.812 NA 9.6486214 695 11 6340706 6340706 A G exonic PRKCDBP NA nonsynonymous SNV PRKCDBP:NM_145040:exon2:c.T473C:p.L158P exonic ENSG00000170955 NA nonsynonymous SNV ENSG00000170955:ENST00000303927:exon2:c.T473C:p.L158P,ENSG00000170955:ENST00000530979:exon3:c.T569C:p.L190P NA NA 11p15.4 NA Name=Pol2 Name=51 NA rs1051992 0.53 0.53 0.466 0.527955 0.5805 0.623 0.4726 0.3873 0.6053 0.59 0.62 0.46 0.4 0.565 0.62 0.22 T 0.0 B 0.001 B 0.415 N 1.000 P -0.805 N 0.21 T -0.933 T 0.000 T 0.044 0.422 6.291 -3.56 -0.455 -1.174 3.969 0.421878 NA 0.23 0.540326 0.395624 ID=COSM429498;OCCURENCE=1(breast),1(large_intestine) 0.565 NA 9.6475074 695 12 7047143 7047143 C A exonic ATN1 NA synonymous SNV ATN1:NM_001007026:exon6:c.C2430A:p.R810R,ATN1:NM_001940:exon6:c.C2430A:p.R810R exonic ENSG00000111676 NA synonymous SNV ENSG00000111676:ENST00000356654:exon6:c.C2430A:p.R810R,ENSG00000111676:ENST00000396684:exon6:c.C2430A:p.R810R Score=702;Name=lod=954 NA 12p13.31 Score=899;Name=V$E2F_03 Name=Mxi1_(bHLH),E2F4,Nrf1,SP1,c-Myc,ZBTB33,Max,ZNF263,c-Fos,BRCA1_(C-1863),YY1,CCNT2,TBP,PAX5-N19,ELK4,Pol2(b),E2F6_(H-50),E2F6,CHD2_(N-1250),HA-E2F1,USF-1,Pol2(phosphoS2),Pol2,GATA-1,ETS1,HEY1,KAP1,Pol2-4H8,MEF2A,IRF4_(M-17),NFKB,RFX5_(N-494),ZEB1_(SC-25388),HMGN3,TAF1 Name=148 NA rs7969685 0.2 0.2 0.213 0.16254 0.3787 0.0109 0.2046 0.1059 0.1431 0.37 0.01 0.25 0.11 0.309 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.113452 NA NA 0.331481 0.13308 NA 0.188 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116431.2;CLNDSDB=.;CLNDSDBID=. 9.6474856 695 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 695 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 695 2 177054769 177054769 G A exonic HOXD1 NA nonsynonymous SNV HOXD1:NM_024501:exon2:c.G886A:p.A296T exonic ENSG00000128645 NA nonsynonymous SNV ENSG00000128645:ENST00000331462:exon2:c.G886A:p.A296T NA NA 2q31.1 Score=754;Name=V$SEF1_C NA Name=16 NA rs6710142 0.18 0.18 0.187 0.187101 0.2515 0.0149 0.147 0.3313 0.1319 0.24 0.01 0.16 0.3 0.2009 0.3 0.61 T 0.024 B 0.007 B 0.005 N 1.000 P 0.345 N -2.71 D -1.101 T 0.000 T 0.006 0.439 6.383 1.3 0.325 0.921 3.167 0.438828 NA 0.39 0.234884 0.29823 NA 0.275 NA 9.6460494 696 6 31105891 31105891 A G exonic PSORS1C2 NA nonsynonymous SNV PSORS1C2:NM_014069:exon2:c.T248C:p.L83P exonic ENSG00000204538 NA nonsynonymous SNV ENSG00000204538:ENST00000259845:exon2:c.T248C:p.L83P Score=346;Name=lod=34 NA 6p21.33 NA Name=ZBTB7A_(SC-34508) NA NA rs2233952 0.93 0.93 0.941 0.943291 0.8976 0.9712 0.8833 0.9909 0.9397 0.9 0.96 0.91 0.97 0.905 0.97 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.04 N 2.73 T -0.915 T 0.003 T 0.099 0.002 4.024 4.69 1.219 2.759 8.869 0.001979 NA 1 0.886465 0.970828 NA 0.942 NA 9.6442684 696 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 696 21 47850484 47850484 G C exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon37:c.G7977C:p.Q2659H exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon37:c.G7977C:p.Q2659H NA NA 21q22.3 NA NA NA NA rs2070426 0.52 0.52 0.513 0.488219 0.5586 0.6141 0.451 0.3321 0.5235 0.56 0.65 0.46 0.33 0.5774 0.65 0.02 D 0.031 B 0.003 B 0.370 N 1.000 P 1.385 L 4.42 T -0.919 T 0.000 T 0.063 2.007 12.67 -9.46 -1.418 -3.277 4.302 2.006586 2.006586 0.02 0.556932 0.341925 NA 0.536 NA 9.6404014 696 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$NRSF_01 NA NA NA rs4796555 0.34 0.34 0.318 0.324681 0.2107 0.6151 0.2896 0.2148 0.316 0.21 0.66 0.25 0.22 0.2652 0.66 0.67 T 0.022 B 0.01 B 0.130 N 0.995 P 0.805 L 0.58 T -0.934 T 0.000 T 0.045 2.013 12.69 2.26 0.813 0.928 4.791 2.013227 2.013227 0 0.218488 0.217431 NA 0.283 NA 9.6389454 696 11 66272237 66272237 G A exonic DPP3 NA nonsynonymous SNV DPP3:NM_001256670:exon16:c.G1943A:p.R648H,DPP3:NM_005700:exon17:c.G2033A:p.R678H,DPP3:NM_130443:exon17:c.G2033A:p.R678H exonic ENSG00000254986 NA nonsynonymous SNV ENSG00000254986:ENST00000530165:exon16:c.G1943A:p.R648H,ENSG00000254986:ENST00000360510:exon17:c.G2033A:p.R678H,ENSG00000254986:ENST00000453114:exon17:c.G2033A:p.R678H,ENSG00000254986:ENST00000531863:exon17:c.G2093A:p.R698H,ENSG00000254986:ENST00000532677:exon17:c.G2090A:p.R697H,ENSG00000254986:ENST00000541961:exon17:c.G2033A:p.R678H NA NA 11q13.2 NA NA NA NA rs2305535 0.23 0.23 0.181 0.211661 0.2396 0.3036 0.1614 0.1475 0.2106 0.26 0.3 0.2 0.12 0.2251 0.3 1 T 0.002 B 0.003 B 0.018 N 1.000 P 1.01 L 1.93 T -1.006 T 0.000 T 0.489 0.991 9.045 4.52 1.350 2.248 12.103 0.990693 NA 0.27 0.230617 0.133409 NA 0.203 NA 9.6380164 696 17 8215534 8215534 C T exonic ARHGEF15 NA synonymous SNV ARHGEF15:NM_025014:exon2:c.C177T:p.T59T,ARHGEF15:NM_173728:exon2:c.C177T:p.T59T exonic ENSG00000198844 NA synonymous SNV ENSG00000198844:ENST00000421050:exon1:c.C177T:p.T59T,ENSG00000198844:ENST00000361926:exon2:c.C177T:p.T59T,ENSG00000198844:ENST00000579439:exon2:c.C177T:p.T59T,ENSG00000198844:ENST00000583529:exon3:c.C177T:p.T59T Score=336;Name=lod=31 NA 17p13.1 Score=871;Name=V$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 696 19 55263898 55263898 G A exonic KIR2DL3 NA nonsynonymous SNV KIR2DL3:NM_015868:exon8:c.G953A:p.R318H exonic ENSG00000243772 NA nonsynonymous SNV ENSG00000243772:ENST00000342376:exon8:c.G953A:p.R318H NA NA 19q13.42 NA NA NA NA rs1049267 0.28 0.28 0.235 0.26238 0.4135 0.1319 0.2133 0.2958 0.2311 0.42 0.12 0.27 0.28 0.3492 0.43 0.14 T 0.958 D 0.579 P . . 1.000 P 2.48 M 7.24 T -0.983 T 0.000 T 0.101 -0.002 4.003 -1.82 -2.805 -0.002 8.391 -0.002093 NA 0.11 0.433684 0.309268 ID=COSM440291;OCCURENCE=1(breast),1(large_intestine) NA NA 9.6369494 696 10 37505141 37505141 G A exonic ANKRD30A NA nonsynonymous SNV ANKRD30A:NM_052997:exon32:c.G2734A:p.V912I exonic ENSG00000148513 NA nonsynonymous SNV ENSG00000148513:ENST00000361713:exon32:c.G2734A:p.V912I,ENSG00000148513:ENST00000602533:exon32:c.G2734A:p.V912I,ENSG00000148513:ENST00000374660:exon38:c.G3091A:p.V1031I NA NA 10p11.21 NA NA NA NA rs1200876 0.16 0.16 0.148 0.127796 0.2634 0.0853 0.2666 0.0129 0.089 0.26 0.09 0.26 0.02 0.2012 0.26 0.65 T 0.064 B 0.012 B . . 1.000 P 0.065 N 2.31 T -0.913 T 0.000 T 0.012 -2.087 0.006 -4.61 -1.702 -1.533 9.917 -2.086553 NA 0.53 0.231989 0.044875 NA 0.138 NA 9.6367444 696 2 179620951 179620951 C T exonic TTN NA nonsynonymous SNV TTN:NM_133437:exon44:c.G10739A:p.G3580D,TTN:NM_001267550:exon46:c.G11252A:p.G3751D exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000342175:exon44:c.G10739A:p.G3580D,ENSG00000155657:ENST00000589042:exon46:c.G11252A:p.G3751D Score=433;Name=lod=77 NA 2q31.2 NA NA NA NA rs7585334 0.84 0.84 0.841 0.804513 0.9145 0.7758 0.67 0.8298 0.7822 0.92 0.77 0.77 0.84 0.8508 0.93 0 D 0.005 B 0.01 B . . 0.000 P . . 1.09 T -1.021 T 0.000 T 0.106 2.678 14.91 4.2 0.871 3.708 13.065 2.677712 2.677712 NA 0.932054 0.840453 NA 0.877 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041121.1|RCV000126054.1;CLNDSDB=.|.;CLNDSDBID=.|. 9.6359794 696 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 696 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 697 17 79650828 79650828 T G exonic ARL16 NA nonsynonymous SNV ARL16:NM_001040025:exon1:c.A28C:p.S10R exonic ENSG00000214087 NA nonsynonymous SNV ENSG00000214087:ENST00000397498:exon1:c.A28C:p.S10R NA NA 17q25.3 NA Name=CHD2_(N-1250),Pol2,HDAC2_(SC-6296),GABP,SP2_(SC-643),Pol2-4H8,IRF3,TAF1,RFX5_(N-494),HMGN3,Pbx3,ELF1_(SC-631),NF-YA,HEY1,SP1,YY1_(C-20),SREBP1,E2F4,Sin3Ak-20,ZBTB7A_(SC-34508),NF-YB,c-Fos,TBP,ELK4,CTCFL_(SC-98982) Name=148 NA rs8066889 0.26 0.26 0.266 0.248203 0.2604 0.2292 0.1556 0.3578 0.1728 0.24 0.24 0.17 0.39 0.2175 0.39 0.01 D 0.0 B 0.0 B 0.834 U 1.000 P 1.04 L -0.51 T -1.011 T 0.000 T 0.075 1.432 10.73 0.805 0.263 0.878 8.446 1.431804 1.431804 0.12 0.220959 0.336134 NA 0.116 NA 9.6344744 697 11 66254085 66254085 G T exonic DPP3 NA nonsynonymous SNV DPP3:NM_001256670:exon3:c.G345T:p.Q115H,DPP3:NM_005700:exon4:c.G435T:p.Q145H,DPP3:NM_130443:exon4:c.G435T:p.Q145H exonic ENSG00000254986 NA nonsynonymous SNV ENSG00000254986:ENST00000526515:exon3:c.G345T:p.Q115H,ENSG00000254986:ENST00000530165:exon3:c.G345T:p.Q115H,ENSG00000254986:ENST00000531354:exon3:c.G435T:p.Q145H,ENSG00000254986:ENST00000533725:exon3:c.G129T:p.Q43H,ENSG00000254986:ENST00000360510:exon4:c.G435T:p.Q145H,ENSG00000254986:ENST00000453114:exon4:c.G435T:p.Q145H,ENSG00000254986:ENST00000531863:exon4:c.G495T:p.Q165H,ENSG00000254986:ENST00000532019:exon4:c.G129T:p.Q43H,ENSG00000254986:ENST00000532677:exon4:c.G492T:p.Q164H,ENSG00000254986:ENST00000541961:exon4:c.G435T:p.Q145H Score=487;Name=lod=127 NA 11q13.2 NA NA NA NA rs11550299 0.24 0.24 0.231 0.216254 0.2416 0.2887 0.1599 0.1884 0.1933 0.26 0.29 0.2 0.17 0.2268 0.29 0.14 T 0.001 B 0.011 B 0.022 N 0.840 P 0.625 N 1.93 T -1.000 T 0.000 T 0.493 1.347 10.43 4.04 2.323 0.497 6.300 1.346721 1.346721 0.1 0.233644 0.168636 ID=COSM147273;OCCURENCE=1(stomach),1(large_intestine) 0.217 NA 9.6312894 697 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$EVI1_02 NA NA NA rs1053807 0.37 0.37 0.34 0.341254 0.4642 0.2183 0.5821 0.2035 0.3569 0.46 0.25 0.6 0.2 0.4282 0.6 0 D . . . . . . 0.000 P . . . . -1.032 T 0.000 T . -1.335 0.031 -10.5 -4.527 -5.452 1.084 -1.334981 NA NA 0.477197 0.239214 NA 0.399 NA 9.630403 697 19 1113701 1113701 G A exonic SBNO2 NA nonsynonymous SNV SBNO2:NM_001100122:exon16:c.C1909T:p.P637S,SBNO2:NM_014963:exon19:c.C2080T:p.P694S exonic ENSG00000064932 NA nonsynonymous SNV ENSG00000064932:ENST00000438103:exon16:c.C1909T:p.P637S,ENSG00000064932:ENST00000361757:exon19:c.C2080T:p.P694S,ENSG00000064932:ENST00000587024:exon19:c.C2050T:p.P684S NA NA 19p13.3 NA Name=HDAC2_(SC-6296),FOXA1_(C-20),FOSL2,Pol2,HNF4G_(SC-6558),HNF4A,HEY1,TAF1 NA NA rs2302110 0.16 0.16 0.13 0.154353 0.2406 0.125 0.2075 0.0567 0.1902 0.24 0.13 0.21 0.06 0.2547 0.24 0.85 T 0.001 B 0.004 B 0.272 N 1.000 P 0.69 N . . -1.032 T 0.000 T 0.018 1.073 9.38 3.23 0.991 0.584 6.984 1.072723 NA 0.28 0.207689 0.076882 NA 0.13 NA 9.6303444 697 3 16268986 16268986 C A exonic GALNT15 NA synonymous SNV GALNT15:NM_054110:exon10:c.C1899A:p.I633I exonic ENSG00000131386 NA synonymous SNV ENSG00000131386:ENST00000339732:exon10:c.C1899A:p.I633I NA NA 3p25.1 Score=887;Name=V$CDPCR3HD_01 NA NA NA rs14576 0.33 0.33 0.332 0.29353 0.3598 0.2034 0.3516 0.3359 0.2198 0.35 0.23 0.41 0.37 0.3203 0.41 0.34 T . . . . . . 0.000 P . . . . . . . . . 0.308 5.671 5.4 2.681 1.745 15.028 0.308339 NA NA 0.356395 0.324784 NA 0.449 NA 9.6301716 697 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 697 1 175092707 175092707 C T exonic TNN NA nonsynonymous SNV TNN:NM_022093:exon12:c.C2822T:p.T941M exonic ENSG00000120332 NA nonsynonymous SNV ENSG00000120332:ENST00000239462:exon12:c.C2822T:p.T941M Score=358;Name=lod=38 NA 1q25.1 NA NA NA NA rs10798333 0.33 0.33 0.346 0.300319 0.4433 0.0972 0.2824 0.4297 0.2004 0.45 0.09 0.3 0.45 0.3428 0.45 0.08 T 0.538 P 0.292 B 0.000 N 0.994 P 2.66 M 0.24 T -0.974 T 0.000 T 0.143 2.044 12.79 3.11 0.606 -0.268 6.990 2.043724 2.043724 0.05 0.417791 0.403087 ID=COSM1336424;OCCURENCE=1(large_intestine) 0.341 NA 9.6294424 697 14 25075920 25075920 G A exonic GZMH NA synonymous SNV GZMH:NM_001270781:exon4:c.C372T:p.D124D,GZMH:NM_001270780:exon5:c.C438T:p.D146D,GZMH:NM_033423:exon5:c.C630T:p.D210D exonic ENSG00000100450 NA synonymous SNV ENSG00000100450:ENST00000557220:exon3:c.C237T:p.D79D,ENSG00000100450:ENST00000382548:exon4:c.C372T:p.D124D,ENSG00000100450:ENST00000216338:exon5:c.C630T:p.D210D NA NA 14q12 NA NA NA NA rs72681016 0.01 0.01 0.004 0.00439297 0.0139 NA 0.0058 0.0015 0.002 0.01 NA 0.01 NA 0.009 0.014 . . 0.009 B 0.004 B . . 1.000 N . . . . -1.061 T 0.025 T . 0.747 7.959 -9.06 -3.371 -5.048 1.627 0.746646 NA NA 0.014419 0.003858 NA 0.014 NA 9.6293476 697 16 1961674 1961674 G C exonic HS3ST6 NA nonsynonymous SNV HS3ST6:NM_001009606:exon2:c.C853G:p.L285V exonic ENSG00000162040 NA nonsynonymous SNV ENSG00000162040:ENST00000293937:exon2:c.C946G:p.L316V,ENSG00000162040:ENST00000443547:exon2:c.C853G:p.L285V,ENSG00000162040:ENST00000454677:exon2:c.C997G:p.L333V Score=629;Name=lod=482 NA 16p13.3 Score=771;Name=V$PAX5_01 NA NA NA rs337285 0.56 0.56 0.538 0.595647 0.5676 0.5188 0.4914 0.6293 0.7321 0.54 0.54 0.51 0.66 0.5915 0.66 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.765 N -1.62 D -0.940 T 0.000 T 0.039 -2.057 0.006 1.84 -0.082 3.181 5.449 -2.057386 NA 1 0.545401 0.594518 NA 0.609 NA 9.6288324 697 3 120352003 120352003 A G exonic HGD NA synonymous SNV HGD:NM_000187:exon13:c.T1179C:p.D393D exonic ENSG00000113924 NA synonymous SNV ENSG00000113924:ENST00000283871:exon13:c.T1179C:p.D393D Score=482;Name=lod=121 NA 3q13.33 Score=815;Name=V$RFX1_02 Name=Pol2 Name=2 NA rs146482816 0.01 0.01 0.004 0.00678914 0.0119 NA 0.0101 NA 0.0153 0.01 NA 0.02 NA 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 0.459198 NA 0 0.01536 0.002951 NA NA NA 9.6286066 697 10 135053710 135053710 C A exonic VENTX NA nonsynonymous SNV VENTX:NM_014468:exon3:c.C677A:p.A226E exonic ENSG00000151650 NA nonsynonymous SNV ENSG00000151650:ENST00000325980:exon3:c.C677A:p.A226E NA NA 10q26.3 NA NA NA NA rs74164127 0.09 0.09 0.094 0.102636 0.0586 0.0823 0.1354 0.1172 0.1258 0.05 0.08 0.13 0.13 0.0844 0.13 0.27 T 0.784 P 0.265 B 0.152 U 1.000 P 0.345 N -2.7 D -0.832 T 0.010 T 0.022 0.776 8.1 -2.19 -0.591 0.040 6.479 0.776378 NA 0.19 0.061749 0.109706 NA 0.072 NA 9.6285844 697 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 697 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=SETDB1,ZNF274 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 698 9 138590928 138590928 C T exonic SOHLH1 NA nonsynonymous SNV SOHLH1:NM_001012415:exon2:c.G110A:p.R37Q,SOHLH1:NM_001101677:exon2:c.G110A:p.R37Q exonic ENSG00000165643 NA nonsynonymous SNV ENSG00000165643:ENST00000298466:exon2:c.G110A:p.R37Q,ENSG00000165643:ENST00000425225:exon2:c.G110A:p.R37Q NA NA 9q34.3 NA Name=CTCF Name=2 NA rs471525 0.81 0.81 0.791 0.808107 0.9155 0.6627 0.8271 0.77 0.8855 0.92 0.72 0.83 0.74 0.8792 0.92 1 T 0.001 B 0.0 B . . 1.000 P -0.145 N 1.42 T -0.964 T 0.000 T 0.058 -0.375 2.235 -5.41 -1.342 -1.197 2.389 -0.375235 NA 1 0.914176 0.815128 NA 0.79 NA 9.6244574 698 10 95279506 95279506 A T exonic CEP55 NA nonsynonymous SNV CEP55:NM_001127182:exon8:c.A1133T:p.H378L,CEP55:NM_018131:exon8:c.A1133T:p.H378L exonic ENSG00000138180 NA nonsynonymous SNV ENSG00000138180:ENST00000371485:exon8:c.A1133T:p.H378L Score=648;Name=lod=571 NA 10q23.33 NA NA NA NA rs2293277 0.58 0.58 0.537 0.559704 0.7525 0.5437 0.7118 0.2587 0.6769 0.75 0.56 0.71 0.24 0.7033 0.76 0.13 T 0.483 P 0.084 B 0.006 N 0.035 P 1.59 L 2.21 T -1.097 T 0.000 T 0.158 3.849 19.55 5.79 2.208 6.083 14.690 3.848845 3.848845 0.07 0.755116 0.327508 NA 0.601 NA 9.6224174 698 11 406043 406043 G A exonic SIGIRR NA synonymous SNV SIGIRR:NM_001135053:exon10:c.C1086T:p.V362V,SIGIRR:NM_001135054:exon10:c.C1086T:p.V362V,SIGIRR:NM_021805:exon10:c.C1086T:p.V362V exonic ENSG00000185187 NA nonsynonymous SNV ENSG00000185187:ENST00000531205:exon8:c.C1375T:p.L459F,ENSG00000185187:ENST00000382520:exon9:c.C1375T:p.L459F Score=371;Name=lod=43 NA 11p15.5 Score=940;Name=V$P53_02 NA NA NA rs7947 0.89 0.89 0.884 0.906749 0.7783 0.998 0.8919 0.91 0.9509 0.78 1 0.88 0.92 0.8387 1 0.9 T 0.022 B 0.015 B . . 0.000 P . . 3.6 T -0.984 T 0.000 T . 1.799 11.97 3.54 1.721 1.078 8.482 1.798758 1.798758 0.85 0.761032 0.88833 NA 0.848 NA 9.621968 698 12 95927762 95927762 T C exonic USP44 NA nonsynonymous SNV USP44:NM_001042403:exon2:c.A271G:p.T91A,USP44:NM_032147:exon2:c.A271G:p.T91A exonic ENSG00000136014 NA nonsynonymous SNV ENSG00000136014:ENST00000552440:exon1:c.A271G:p.T91A,ENSG00000136014:ENST00000258499:exon2:c.A271G:p.T91A,ENSG00000136014:ENST00000393091:exon2:c.A271G:p.T91A,ENSG00000136014:ENST00000537435:exon2:c.A271G:p.T91A,ENSG00000136014:ENST00000549639:exon2:c.A271G:p.T91A,ENSG00000136014:ENST00000551837:exon3:c.A271G:p.T91A Score=658;Name=lod=628 NA 12q22 Score=890;Name=V$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 698 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 698 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 698 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 698 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 698 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 698 4 84383810 84383810 C T exonic FAM175A NA nonsynonymous SNV FAM175A:NM_139076:exon9:c.G1042A:p.A348T exonic ENSG00000163322 NA nonsynonymous SNV ENSG00000163322:ENST00000321945:exon9:c.G1042A:p.A348T,ENSG00000163322:ENST00000506553:exon9:c.G895A:p.A299T NA NA 4q21.23 NA NA NA NA rs12642536 0.42 0.42 0.377 0.41893 0.3787 0.6756 0.5259 0.1225 0.5204 0.4 0.65 0.5 0.15 0.4308 0.65 0.02 D 0.822 P 0.436 B 0.026 N 1.000 P 1.79 L 0.82 T -0.934 T 0.000 T 0.034 3.269 16.97 2.75 1.330 0.499 10.914 3.268943 3.268943 0.02 0.408023 0.169542 NA 0.239 NA 9.6158104 699 16 1537839 1537839 G A exonic PTX4 NA nonsynonymous SNV PTX4:NM_001013658:exon2:c.C259T:p.R87W exonic ENSG00000251692 NA nonsynonymous SNV ENSG00000251692:ENST00000293922:exon2:c.C259T:p.R87W,ENSG00000251692:ENST00000440447:exon2:c.C274T:p.R92W,ENSG00000251692:ENST00000447419:exon2:c.C274T:p.R92W NA NA 16p13.3 NA Name=Pol2 Name=5 NA rs2745101 0.3 0.3 0.293 0.266174 0.2316 0.5079 0.1945 0.1679 0.2362 0.25 0.55 0.19 0.15 0.2431 0.55 0.01 D 0.007 B 0.003 B 0.042 N 1.000 P 0.895 L 3.6 T -0.911 T 0.000 T 0.12 1.347 10.43 -0.593 -0.015 0.282 2.242 1.346709 1.346709 0 0.244589 0.158481 NA 0.348 NA 9.6140444 699 17 79639550 79639550 G A exonic CCDC137 NA nonsynonymous SNV CCDC137:NM_199287:exon6:c.G686A:p.R229Q exonic ENSG00000185298 NA nonsynonymous SNV ENSG00000185298:ENST00000329214:exon6:c.G686A:p.R229Q,ENSG00000185298:ENST00000575223:exon6:c.G686A:p.R229Q,ENSG00000185298:ENST00000574107:exon7:c.G713A:p.R238Q NA NA 17q25.3 NA NA NA NA rs11546630 0.14 0.14 0.153 0.131589 0.0596 0.2232 0.0519 0.1997 0.0757 0.06 0.22 0.05 0.23 0.1129 0.23 0.51 T 0.759 P 0.174 B 0.397 N 1.000 P 0.895 L -2.59 D -1.038 T 0.000 T 0.208 0.004 4.032 -3.14 -0.090 -0.589 7.686 0.003559 NA 0.42 0.046856 0.140964 ID=COSM437791;OCCURENCE=1(breast) 0.188 NA 9.6139774 699 19 55998262 55998262 C T exonic NAT14 NA nonsynonymous SNV NAT14:NM_020378:exon3:c.C560T:p.A187V exonic ENSG00000090971 NA nonsynonymous SNV ENSG00000090971:ENST00000205194:exon3:c.C560T:p.A187V Score=329;Name=lod=29 NA 19q13.42 NA NA NA NA rs77664073 0.12 0.12 0.121 0.110623 0.2237 0.0169 0.1441 0.0386 0.1646 0.23 0.02 0.19 0.03 0.3062 0.23 1 T 0.002 B 0.001 B 0.390 N 0.844 P -0.04 N . . -1.057 T 0.000 T 0.048 1.996 12.63 4.45 2.207 0.495 8.756 1.99615 1.99615 NA 0.191412 0.056283 NA 0.123 NA 9.6120214 699 19 8121360 8121360 A G exonic CCL25 NA nonsynonymous SNV CCL25:NM_001201359:exon4:c.A302G:p.H101R,CCL25:NM_005624:exon4:c.A302G:p.H101R exonic ENSG00000131142 NA nonsynonymous SNV ENSG00000131142:ENST00000390669:exon3:c.A302G:p.H101R,ENSG00000131142:ENST00000253451:exon4:c.A302G:p.H101R NA NA 19p13.2 NA NA NA NA rs2032887 0.22 0.22 0.186 0.217652 0.2475 0.0942 0.3458 0.261 0.1646 0.25 0.11 0.32 0.24 0.2323 0.32 0.34 T 0.0 B 0.0 B 0.092 N 1.000 P 0.55 N 3.83 T -0.903 T 0.000 T 0.006 -1.011 0.245 -3.03 -1.514 -2.544 1.007 -1.011107 NA 0.58 0.24316 0.24746 NA 0.21 NA 9.6103734 699 1 44072066 44072066 C T exonic PTPRF NA synonymous SNV PTPRF:NM_130440:exon19:c.C3612T:p.P1204P,PTPRF:NM_002840:exon20:c.C3639T:p.P1213P exonic ENSG00000142949 NA synonymous SNV ENSG00000142949:ENST00000372407:exon7:c.C822T:p.P274P,ENSG00000142949:ENST00000422171:exon10:c.C1683T:p.P561P,ENSG00000142949:ENST00000372413:exon17:c.C3612T:p.P1204P,ENSG00000142949:ENST00000372414:exon18:c.C3639T:p.P1213P,ENSG00000142949:ENST00000438120:exon19:c.C3612T:p.P1204P,ENSG00000142949:ENST00000359947:exon20:c.C3639T:p.P1213P Score=587;Name=lod=325 NA 1p34.2 Score=840;Name=V$GATA1_02 NA NA NA rs10890266 0.29 0.29 0.22 0.28115 0.3648 0.4702 0.2752 0.0303 0.3436 0.36 0.4 0.31 0.04 0.33 0.4 0.05 D . . . . 0.004 N 0.000 P . . 1.17 T -0.963 T 0.000 T . 1.132 9.612 -0.529 0.019 -1.265 1.571 1.131657 NA NA 0.361744 0.093736 NA 0.232 NA 9.6101226 699 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 699 2 27459364 27459364 T C exonic CAD NA synonymous SNV CAD:NM_004341:exon26:c.T4287C:p.D1429D exonic ENSG00000084774 NA synonymous SNV ENSG00000084774:ENST00000403525:exon25:c.T4098C:p.D1366D,ENSG00000084774:ENST00000264705:exon26:c.T4287C:p.D1429D Score=573;Name=lod=283 NA 2p23.3 NA NA NA NA rs10193746 0.06 0.06 0.061 0.0834665 0.0129 NA 0.049 0.2791 0.002 0.01 NA 0.05 0.22 0.0313 0.25 . . . . . . . . 0.000 P . . . . -1.012 T 0.000 T . 1.3 10.26 -3.79 -0.511 -1.108 13.369 1.300059 1.300059 NA 0.015698 0.250113 NA 0.174 NA 9.6067686 699 12 77440011 77440011 C G exonic E2F7 NA synonymous SNV E2F7:NM_203394:exon5:c.G636C:p.R212R exonic ENSG00000165891 NA synonymous SNV ENSG00000165891:ENST00000552907:exon2:c.G264C:p.R88R,ENSG00000165891:ENST00000322886:exon5:c.G636C:p.R212R,ENSG00000165891:ENST00000416496:exon5:c.G636C:p.R212R,ENSG00000165891:ENST00000550669:exon5:c.G636C:p.R212R Score=423;Name=lod=70 NA 12q21.2 NA NA NA NA rs61754234 0.01 0.01 0.006 0.0175719 0.0169 NA 0.0187 NA 0.0593 0.01 NA 0.02 NA 0.0195 0.024 . . . . . . . . 1.000 D . . . . -0.917 T 0.118 T . 1.301 10.26 4.35 0.930 -0.541 7.650 1.300536 1.300536 NA 0.023721 0.004085 NA NA NA 9.6065456 699 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 700 X 153215839 153215839 G A exonic HCFC1 NA synonymous SNV HCFC1:NM_005334:exon24:c.C5859T:p.C1953C exonic ENSG00000172534 NA synonymous SNV ENSG00000172534:ENST00000310441:exon24:c.C5859T:p.C1953C,ENSG00000172534:ENST00000369984:exon24:c.C5994T:p.C1998C,ENSG00000172534:ENST00000354233:exon25:c.C5652T:p.C1884C Score=617;Name=lod=430 NA Xq28 NA NA NA NA rs3027875 0.29 0.29 0.30445 NA NA NA NA NA NA 0.64 0.0047 0.28 0.06 0.432 0.64 . . . . . . . . 0.000 P . . . . -1.060 T 0.000 T . 1.486 10.91 -5.26 -1.195 -0.600 15.811 1.485602 1.485602 NA 0.630141 0.084924 ID=COSM457075,COSM457076;OCCURENCE=1(breast) 0.275 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081294.3;CLNDSDB=.;CLNDSDBID=. 9.6045256 700 4 71346701 71346701 C G exonic MUC7 NA nonsynonymous SNV MUC7:NM_152291:exon3:c.C240G:p.N80K,MUC7:NM_001145006:exon4:c.C240G:p.N80K,MUC7:NM_001145007:exon4:c.C240G:p.N80K exonic ENSG00000171195 NA nonsynonymous SNV ENSG00000171195:ENST00000304887:exon3:c.C240G:p.N80K,ENSG00000171195:ENST00000413702:exon4:c.C240G:p.N80K,ENSG00000171195:ENST00000456088:exon4:c.C240G:p.N80K,ENSG00000171195:ENST00000505411:exon4:c.C240G:p.N80K NA NA 4q13.3 NA NA NA NA rs6826961 0.28 0.28 0.267 0.310304 0.2207 0.4077 0.196 0.2973 0.4008 0.23 0.38 0.19 0.29 0.2726 0.38 0.64 T 0.006 B 0.005 B . . 1.000 P 0.205 N 0.67 T -0.949 T 0.000 T 0.011 -2.263 0.004 -3.1 -1.398 -3.185 0.098 -2.263479 NA 1 0.23593 0.300045 NA 0.232 NA 9.6041034 700 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 700 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 700 1 205130413 205130413 A G exonic DSTYK NA nonsynonymous SNV DSTYK:NM_015375:exon7:c.T1921C:p.C641R,DSTYK:NM_199462:exon7:c.T1921C:p.C641R exonic ENSG00000133059 NA nonsynonymous SNV ENSG00000133059:ENST00000367161:exon7:c.T1921C:p.C641R,ENSG00000133059:ENST00000367162:exon7:c.T1921C:p.C641R Score=557;Name=lod=245 NA 1q32.1 NA NA Name=2 NA rs3851294 0.95 0.95 0.94 0.961062 0.8946 1 0.9424 0.9947 0.9571 0.89 1 0.93 0.99 0.9317 1 0.86 T 0.0 B 0.0 B 0.000 N 0.000 P -0.69 N -0.95 T -0.948 T 0.000 T 0.099 0.397 6.154 5.27 1.245 4.190 7.453 0.396542 NA 0.67 0.904767 0.9798 NA 0.986 NA 9.6022664 700 19 19823270 19823270 T A exonic ZNF14 NA nonsynonymous SNV ZNF14:NM_021030:exon4:c.A820T:p.T274S exonic ENSG00000105708 NA nonsynonymous SNV ENSG00000105708:ENST00000344099:exon4:c.A820T:p.T274S Score=389;Name=lod=51 NA 19p13.11 NA Name=SETDB1,KAP1,ZNF274 NA NA rs12973901 0.19 0.19 0.181 0.182708 0.2376 0.2649 0.1657 0.0265 0.2648 0.24 0.27 0.2 0.01 0.237 0.27 0.06 T 0.077 B 0.026 B . . 0.985 P 0.74 N 1.87 T -0.984 T 0.000 T 0.061 3.506 17.92 1.8 0.811 5.501 7.228 3.505752 3.505752 0.16 0.256571 0.055606 NA 0.181 NA 9.6021624 700 19 18123738 18123738 T C exonic ARRDC2 NA nonsynonymous SNV ARRDC2:NM_001025604:exon8:c.T1172C:p.L391P,ARRDC2:NM_015683:exon8:c.T1187C:p.L396P exonic ENSG00000105643 NA nonsynonymous SNV ENSG00000105643:ENST00000222250:exon8:c.T1187C:p.L396P,ENSG00000105643:ENST00000379656:exon8:c.T1172C:p.L391P Score=431;Name=lod=75 NA 19p13.11 NA NA NA NA rs7259041 0.3 0.3 0.319 0.311102 0.2545 0.2837 0.1772 0.4947 0.2444 0.26 0.24 0.2 0.48 0.2483 0.48 0.92 T 0.0 B 0.0 B 0.000 N 0.996 P -1.905 N 2.35 T -0.926 T 0.000 T 0.037 -2.488 0.003 2.93 0.834 3.653 8.290 -2.488262 NA 0.17 0.229767 0.453926 NA 0.5 NA 9.6007664 700 15 102264476 102264476 C A exonic TARSL2 NA nonsynonymous SNV TARSL2:NM_152334:exon1:c.G115T:p.A39S exonic ENSG00000185418 NA nonsynonymous SNV ENSG00000185418:ENST00000335968:exon1:c.G115T:p.A39S,ENSG00000185418:ENST00000539112:exon1:c.G115T:p.A39S NA NA 15q26.3 NA Name=AP-2gamma,TBP,CCNT2,Pol2(b),AP-2alpha,YY1,ZNF263,SMC3_(ab9263),YY1_(C-20),ZBTB33,c-Myc,Sin3Ak-20,PAX5-C20,TAF1,HMGN3,CTCF_(SC-5916),Pol2-4H8,EBF1_(C-8),ELF1_(SC-631),HEY1,KAP1,Pol2(phosphoS2),Pol2,CHD2_(N-1250),HA-E2F1,TCF12,Ini1,CTCF Name=145 NA rs1143136 0.2 0.2 0.185 0.192292 0.2237 0.0099 0.2853 0.2897 0.1503 0.23 0.01 0.28 0.32 0.3097 0.32 0.12 T 0.187 B 0.033 B 0.447 N 1.000 P 1.39 L . . -1.033 T 0.000 T 0.044 1.254 10.09 2.33 0.708 0.678 7.760 1.254065 1.254065 0.02 0.199185 0.220393 NA 0.094 NA 9.6007484 700 6 36368276 36368276 C T exonic PXT1 NA synonymous SNV PXT1:NM_152990:exon4:c.G255A:p.Q85Q exonic ENSG00000179165 NA synonymous SNV ENSG00000179165:ENST00000454782:exon4:c.G255A:p.Q85Q Score=304;Name=lod=23 NA 6p21.31 NA NA NA NA rs62403732 0.02 0.02 0.009 0.0101837 0.0229 0.0079 0.0202 0.0023 0.0031 0.02 0.01 0.02 0.0041 0.0192 0.025 . . . . . . . . 1.000 D . . . . -1.028 T 0.095 T . 0.819 8.299 2.37 0.307 0.425 4.624 0.819483 NA NA 0.024767 0.006128 NA 0.014 NA 9.5997996 700 11 1272709 1272709 G A exonic MUC5B NA nonsynonymous SNV MUC5B:NM_002458:exon31:c.G14599A:p.A4867T exonic ENSG00000117983 NA nonsynonymous SNV ENSG00000117983:ENST00000447027:exon31:c.G14608A:p.A4870T,ENSG00000117983:ENST00000529681:exon31:c.G14599A:p.A4867T NA NA 11p15.5 NA NA NA NA rs3021155 0.07 0.07 0.067 0.0652955 0.0815 0.0506 0.1066 0.0234 0.091 0.08 0.08 0.1 0.02 0.0804 0.1 0 D 0.942 P 0.102 B . . 1.000 P 0.55 N 2.47 T -0.989 T 0.001 T 0.034 0.017 4.101 -0.459 -0.123 -5.969 6.261 0.016851 NA NA 0.071698 0.018207 NA 0.087 NA 9.5997354 700 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 700 4 156274377 156274377 T C exonic MAP9 NA nonsynonymous SNV MAP9:NM_001039580:exon11:c.A1496G:p.K499R exonic ENSG00000164114 NA nonsynonymous SNV ENSG00000164114:ENST00000311277:exon11:c.A1496G:p.K499R,ENSG00000164114:ENST00000515654:exon11:c.A1424G:p.K475R Score=325;Name=lod=28 NA 4q32.1 NA NA NA NA rs1058992 0.42 0.42 0.437 0.408946 0.2247 0.5863 0.3228 0.6104 0.2045 0.24 0.58 0.29 0.62 0.2947 0.62 0.46 T 0.36 B 0.139 B 0.014 N 0.000 P 2.125 M 2.98 T -1.031 T 0.000 T 0.057 1.487 10.92 4.05 0.930 0.012 8.684 1.487296 1.487296 0.42 0.216031 0.526567 ID=COSM1131208;OCCURENCE=1(prostate) 0.42 NA 9.5979024 700 2 185801747 185801747 G A exonic ZNF804A NA nonsynonymous SNV ZNF804A:NM_194250:exon4:c.G1624A:p.E542K exonic ENSG00000170396 NA nonsynonymous SNV ENSG00000170396:ENST00000302277:exon4:c.G1624A:p.E542K NA NA 2q32.1 NA NA Name=6 NA rs4667001 0.56 0.56 0.506 0.490216 0.5825 0.8383 0.6326 0.0582 0.5194 0.61 0.86 0.61 0.08 0.5776 0.86 0.1 T 0.012 B 0.006 B 0.029 N 1.000 P 1.795 L 3.26 T -1.050 T 0.000 T 0.061 0.742 7.937 3.22 1.257 1.210 6.250 0.741883 NA 0.16 0.576564 0.139777 NA 0.449 NA 9.5966694 700 7 75615287 75615287 G A exonic POR NA synonymous SNV POR:NM_000941:exon14:c.G1716A:p.S572S exonic ENSG00000127948 NA synonymous SNV ENSG00000127948:ENST00000439269:exon8:c.G930A:p.S310S,ENSG00000127948:ENST00000545601:exon9:c.G1140A:p.S380S,ENSG00000127948:ENST00000450476:exon10:c.G1413A:p.S471S,ENSG00000127948:ENST00000394893:exon14:c.G1716A:p.S572S,ENSG00000127948:ENST00000461988:exon14:c.G1716A:p.S572S NA NA 7q11.23 NA Name=GR NA NA rs1057870 0.18 0.18 0.192 0.195288 0.341 0.0377 0.2133 0.1256 0.2894 0.33 0.03 0.22 0.11 0.3811 0.35 . . . . . . . . 1.000 P . . . . -1.043 T 0.000 T . 0.01 4.067 -7.18 -3.492 -2.390 3.404 0.01029 NA NA 0.348118 0.154822 NA 0.181 NA 9.5964486 700 8 124154697 124154697 G T splicing WDR67 NM_145647:exon19:c.2835+1G>T NA NA splicing ENSG00000156787 ENST00000287380:exon19:c.2835+1G>T,ENST00000522420:exon18:c.2520+1G>T,ENST00000521676:exon18:c.2466+1G>T,ENST00000518805:exon12:c.1497+1G>T NA NA Score=321;Name=lod=27 NA 8q24.13 NA NA NA NA rs10101626 0.21 0.21 NA 0.204872 0.1948 0.1825 0.1614 0.2534 0.2035 0.2 0.22 0.14 0.26 0.2093 0.26 . . . . . . . . 0.000 P . . . . . . . . . 1.509 11 5.36 2.529 6.243 17.865 1.509071 1.509071 NA NA NA NA 0.217 NA 9.5959 700 1 100672060 100672060 T C exonic DBT NA nonsynonymous SNV DBT:NM_001918:exon9:c.A1150G:p.S384G exonic ENSG00000137992 NA nonsynonymous SNV ENSG00000137992:ENST00000370132:exon9:c.A1150G:p.S384G NA NA 1p21.2 NA NA Name=2 NA rs12021720 0.9 0.9 0.887 0.891773 0.9215 0.9494 0.9481 0.7443 0.9611 0.91 0.97 0.94 0.78 0.9138 0.97 1 T 0.0 B 0.0 B 0.000 N 0.999 P . . 1.19 T -1.012 T 0.014 T 0.155 -0.687 1.014 4.4 1.495 1.905 9.627 -0.687087 NA 1 0.902442 0.774852 NA 0.891 CLINSIG=pathogenic;CLNDBN=Intermediate_maple_syrup_urine_disease_type_2,not_specified;CLNREVSTAT=single,single;CLNACC=RCV000012727.21,RCV000116865.2;CLNDSDB=MedGen,.;CLNDSDBID=CN069615,. 9.5955914 701 11 72946140 72946140 G C exonic P2RY2 NA nonsynonymous SNV P2RY2:NM_002564:exon3:c.G936C:p.R312S,P2RY2:NM_176071:exon3:c.G936C:p.R312S,P2RY2:NM_176072:exon3:c.G936C:p.R312S exonic ENSG00000175591 NA nonsynonymous SNV ENSG00000175591:ENST00000311131:exon3:c.G936C:p.R312S,ENSG00000175591:ENST00000393596:exon3:c.G936C:p.R312S,ENSG00000175591:ENST00000393597:exon3:c.G936C:p.R312S Score=300;Name=lod=22 NA 11q13.4 NA NA NA NA rs3741156 0.29 0.29 0.261 0.272364 0.2266 0.5397 0.4107 0.0121 0.2975 0.23 0.55 0.36 0.01 0.2747 0.55 0.55 T 0.015 B 0.008 B 0.044 N 0.657 P 0.665 N 1.65 T -0.920 T 0.000 T 0.469 0.205 5.105 2.16 0.305 1.609 6.080 0.205055 NA 0.12 0.23713 0.059318 NA 0.225 NA 9.5949034 701 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 701 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 701 2 27481652 27481652 A C exonic SLC30A3 NA synonymous SNV SLC30A3:NM_003459:exon2:c.T246G:p.V82V exonic ENSG00000115194 NA synonymous SNV ENSG00000115194:ENST00000233535:exon2:c.T246G:p.V82V,ENSG00000115194:ENST00000432351:exon2:c.T99G:p.V33V,ENSG00000115194:ENST00000450118:exon2:c.T99G:p.V33V,ENSG00000115194:ENST00000426569:exon3:c.T99G:p.V33V,ENSG00000115194:ENST00000426924:exon3:c.T207G:p.V69V,ENSG00000115194:ENST00000447008:exon3:c.T231G:p.V77V,ENSG00000115194:ENST00000424577:exon4:c.T180G:p.V60V Score=502;Name=lod=146 NA 2p23.3 NA NA NA NA rs1992290 0.09 0.09 0.079 0.120607 0.0129 NA 0.0519 0.4183 0.002 0.01 NA 0.04 0.36 0.0432 0.37 . . . . . . . . 0.000 P . . . . -0.939 T 0.000 T . 1.229 9.983 2.46 0.253 1.060 3.364 1.228549 NA NA 0.016279 0.370631 NA 0.188 NA 9.5942876 701 22 31032881 31032881 G A exonic SLC35E4 NA synonymous SNV SLC35E4:NM_001001479:exon1:c.G444A:p.L148L exonic ENSG00000100036 NA synonymous SNV ENSG00000100036:ENST00000300385:exon1:c.G444A:p.L148L,ENSG00000100036:ENST00000343605:exon1:c.G444A:p.L148L,ENSG00000100036:ENST00000406566:exon1:c.G444A:p.L148L,ENSG00000100036:ENST00000451479:exon1:c.G372A:p.L124L Score=452;Name=lod=92 NA 22q12.2 Score=872;Name=V$FREAC4_01 Name=CTCF Name=14 NA rs8136373 0.07 0.07 0.076 0.0878594 0.0149 NA 0.0303 0.2988 0.0092 0.02 NA 0.03 0.27 0.0397 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080438 NA NA 0.019884 0.276794 NA 0.21 NA 9.5921826 701 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 701 1 114377568 114377568 A G exonic PTPN22 NA nonsynonymous SNV PTPN22:NM_012411:exon12:c.T1693C:p.W565R,PTPN22:NM_001193431:exon14:c.T1858C:p.W620R,PTPN22:NM_015967:exon14:c.T1858C:p.W620R exonic ENSG00000134242 NA nonsynonymous SNV ENSG00000134242:ENST00000525799:exon9:c.T1477C:p.W493R,ENSG00000134242:ENST00000538253:exon10:c.T1126C:p.W376R,ENSG00000134242:ENST00000528414:exon12:c.T1693C:p.W565R,ENSG00000134242:ENST00000359785:exon14:c.T1858C:p.W620R,ENSG00000134242:ENST00000420377:exon14:c.T1858C:p.W620R Score=498;Name=lod=141 NA 1p13.2 NA Name=STAT3 Name=9 NA rs2476601 0.96 0.96 0.963 0.972644 0.9056 1 0.964 0.997 0.9867 0.9 1 0.96 1 0.9332 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P . . 4.64 T -0.906 T 0.004 T 0.347 -0.454 1.898 2.7 0.351 0.645 7.516 -0.453819 NA 1 0.90593 0.981843 NA 0.891 CLINSIG=other|other|other|other|other;CLNDBN=Diabetes_mellitus\x2c_insulin-dependent\x2c_susceptibility_to|Rheumatoid_arthritis|Systemic_lupus_erythematosus\x2c_susceptibility_to|Hashimoto_thyroiditis\x2c_susceptibility_to|Addison_disease\x2c_susceptibility_to;CLNREVSTAT=single|single|single|single|single;CLNACC=RCV000009460.1|RCV000009461.1|RCV000009462.1|RCV000009463.1|RCV000009464.1;CLNDSDB=.|MedGen:OMIM:SNOMED_CT|.|.|.;CLNDSDBID=.|C0003873:180300:69896004|.|.|. 9.5886034 701 6 52129484 52129484 C T exonic MCM3 NA nonsynonymous SNV MCM3:NM_001270472:exon16:c.G2359A:p.E787K,MCM3:NM_002388:exon17:c.G2464A:p.E822K exonic ENSG00000112118 NA nonsynonymous SNV ENSG00000112118:ENST00000421471:exon9:c.G965A:p.R322Q,ENSG00000112118:ENST00000419835:exon16:c.G2191A:p.E731K,ENSG00000112118:ENST00000229854:exon17:c.G2329A:p.E777K,ENSG00000112118:ENST00000596288:exon17:c.G2464A:p.E822K NA NA 6p12.2 NA NA NA NA rs2230240 0.14 0.14 0.148 0.114417 0.2883 0.002 0.1686 0.0151 0.1472 0.29 0.0017 0.19 0.02 0.1988 0.29 0.75 T 0.088 B 0.023 B 0.076 N 1.000 P 1.445 L 0.22 T -1.022 T 0.070 T 0.217 1.081 9.414 4.53 1.515 1.996 10.386 1.08138 NA 0.64 0.258488 0.046527 NA 0.188 NA 9.5877454 701 19 48248925 48248925 C A exonic GLTSCR2 NA synonymous SNV GLTSCR2:NM_015710:exon1:c.C109A:p.R37R exonic ENSG00000105373 NA synonymous SNV ENSG00000105373:ENST00000246802:exon1:c.C109A:p.R37R Score=456;Name=lod=95 NA 19q13.33 Score=847;Name=V$NGFIC_01 Name=YY1,CCNT2,TBP,Pol2(b),GTF2F1_(RAP-74),ZNF263,Oct-2,YY1_(C-20),eGFP-JunD,Sin3Ak-20,Pol2-4H8,GABP,NFKB,HMGN3,TAF1,HEY1,ELF1_(SC-631),STAT1,Pol2(phosphoS2),Pol2,GTF2B,POU2F2,TAF7_(SQ-8) Name=98 NA rs144346550 0.01 0.01 0.007 0.0121805 0.0338 NA 0.0216 0.0008 0.0112 0.03 NA 0.02 NA 0.0244 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.056543 NA NA 0.020824 0.002951 NA NA NA 9.5876426 701 19 48248924 48248924 G A exonic GLTSCR2 NA synonymous SNV GLTSCR2:NM_015710:exon1:c.G108A:p.R36R exonic ENSG00000105373 NA synonymous SNV ENSG00000105373:ENST00000246802:exon1:c.G108A:p.R36R Score=456;Name=lod=95 NA 19q13.33 Score=847;Name=V$NGFIC_01 Name=GTF2F1_(RAP-74),ZNF263,TBP,CCNT2,Pol2(b),YY1,eGFP-JunD,Sin3Ak-20,YY1_(C-20),Oct-2,HEY1,ELF1_(SC-631),STAT1,NFKB,HMGN3,TAF1,Pol2-4H8,GABP,TAF7_(SQ-8),GTF2B,POU2F2,Pol2(phosphoS2),Pol2 Name=98 NA rs3181870 0.01 0.01 0.009 0.0121805 0.0338 NA 0.0216 0.0008 0.0112 0.03 NA 0.02 NA 0.0244 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 1.524251 1.524251 NA 0.021173 0.002951 NA NA NA 9.5872936 701 21 30341891 30341891 A G exonic LTN1 NA nonsynonymous SNV LTN1:NM_015565:exon9:c.T1346C:p.L449S exonic ENSG00000198862 NA nonsynonymous SNV ENSG00000198862:ENST00000361371:exon9:c.T1208C:p.L403S,ENSG00000198862:ENST00000389194:exon9:c.T1346C:p.L449S,ENSG00000198862:ENST00000389195:exon9:c.T1346C:p.L449S Score=409;Name=lod=61 NA 21q21.3 NA NA NA NA rs2254796 0.73 0.73 0.734 0.71865 0.6024 0.8333 0.6614 0.8631 0.5654 0.59 0.83 0.69 0.85 0.5918 0.85 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.32 N 3.73 T -0.962 T 0.000 T 0.035 -0.648 1.147 4.91 1.456 4.344 11.069 -0.647937 NA 1 0.552442 0.811989 NA 0.667 NA 9.5866914 701 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 701 22 26853905 26853905 C A exonic HPS4 NA nonsynonymous SNV HPS4:NM_152841:exon11:c.G1860T:p.Q620H,HPS4:NM_022081:exon13:c.G1875T:p.Q625H exonic ENSG00000100099 NA nonsynonymous SNV ENSG00000100099:ENST00000402105:exon11:c.G1860T:p.Q620H,ENSG00000100099:ENST00000398141:exon12:c.G1914T:p.Q638H,ENSG00000100099:ENST00000336873:exon13:c.G1875T:p.Q625H,ENSG00000100099:ENST00000398145:exon13:c.G1875T:p.Q625H Score=449;Name=lod=89 NA 22q12.1 NA NA NA NA rs1894704 0.83 0.83 0.83 0.827276 0.9384 0.8046 0.7594 0.7443 0.8967 0.94 0.79 0.77 0.75 0.8819 0.94 0.26 T 0.915 P 0.589 P 0.017 N 0.853 P 1.71 L 1.88 T -1.052 T 0.000 T 0.219 2.379 13.91 5.13 2.390 2.017 11.226 2.379386 2.379386 0.23 0.927791 0.752837 NA 0.826 NA 9.5852424 702 11 18737095 18737095 C T exonic IGSF22 NA nonsynonymous SNV IGSF22:NM_173588:exon11:c.G1415A:p.R472Q exonic ENSG00000179057 NA nonsynonymous SNV ENSG00000179057:ENST00000319338:exon11:c.G1415A:p.R472Q,ENSG00000179057:ENST00000513874:exon11:c.G1415A:p.R472Q Score=420;Name=lod=68 NA 11p15.1 NA NA Name=10 NA rs4424652 0.78 0.78 0.771 0.749401 0.7734 0.8125 0.7032 0.829 0.5849 0.77 0.81 0.73 0.82 0.7349 0.82 0.26 T 0.469 P 0.035 B 0.006 N 1.000 P 1 L -0.27 T -0.986 T 0.000 T 0.085 0.9 8.657 2.53 0.249 1.983 5.014 0.899532 NA 0.42 0.741371 0.789354 NA 0.623 NA 9.5836624 702 4 1737502 1737502 C T exonic TACC3 NA synonymous SNV TACC3:NM_006342:exon8:c.C1689T:p.F563F exonic ENSG00000013810 NA synonymous SNV ENSG00000013810:ENST00000313288:exon8:c.C1689T:p.F563F Score=496;Name=lod=138 NA 4p16.3 Score=784;Name=V$PPARA_01 NA NA NA rs11248073 0.39 0.39 0.388 0.390176 0.3429 0.6935 0.3732 0.1263 0.4949 0.36 0.69 0.36 0.13 0.3891 0.69 . . . . . . . . 0.000 P . . . . . . . . . -0.811 0.648 -7.14 -1.407 0.174 16.514 -0.810689 NA NA 0.351163 0.179301 NA 0.312 NA 9.5835036 702 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 702 17 42254298 42254298 C T exonic ASB16 NA synonymous SNV ASB16:NM_080863:exon3:c.C762T:p.A254A exonic ENSG00000161664 NA synonymous SNV ENSG00000161664:ENST00000293414:exon3:c.C762T:p.A254A,ENSG00000161664:ENST00000589618:exon3:c.C762T:p.A254A NA NA 17q21.31 NA NA NA NA rs141590219 0.02 0.02 0.02 0.00898562 0.0388 NA 0.0086 NA NA 0.04 NA 0.01 NA 0.0278 0.04 0 D 0.043 B 0.002 B . . 1.000 D . . . . -1.083 T 0.030 T . 1.47 10.86 -5.0 -0.635 -0.305 5.317 1.469877 1.469877 NA 0.020541 0.006958 NA 0.007 NA 9.5795256 702 6 7211818 7211818 G A exonic RREB1 NA nonsynonymous SNV RREB1:NM_001003698:exon8:c.G583A:p.G195R,RREB1:NM_001003699:exon8:c.G583A:p.G195R,RREB1:NM_001003700:exon8:c.G583A:p.G195R,RREB1:NM_001168344:exon8:c.G583A:p.G195R exonic ENSG00000124782 NA nonsynonymous SNV ENSG00000124782:ENST00000334984:exon8:c.G583A:p.G195R,ENSG00000124782:ENST00000349384:exon8:c.G583A:p.G195R,ENSG00000124782:ENST00000379933:exon8:c.G583A:p.G195R,ENSG00000124782:ENST00000379938:exon8:c.G583A:p.G195R,ENSG00000124782:ENST00000483150:exon9:c.G583A:p.G195R NA NA 6p24.3 NA NA NA NA rs1334576 0.42 0.42 0.373 0.457668 0.4076 0.5327 0.4308 0.32 0.637 0.41 0.51 0.43 0.35 0.4469 0.51 0.38 T 0.998 D 0.859 P 0.257 N 1.000 P 1.61 L 2.9 T -1.018 T 0.019 T 0.123 1.812 12.02 2.93 1.580 0.911 1.897 1.81158 1.81158 0.19 0.401279 0.334771 NA 0.362 NA 9.5775544 703 8 104312432 104312432 A G exonic FZD6 NA nonsynonymous SNV FZD6:NM_001164615:exon2:c.A97G:p.M33V,FZD6:NM_003506:exon2:c.A97G:p.M33V,FZD6:NM_001164616:exon3:c.A1G:p.M1V exonic ENSG00000164930 NA nonsynonymous SNV ENSG00000164930:ENST00000521195:exon1:c.A97G:p.M33V,ENSG00000164930:ENST00000358755:exon2:c.A97G:p.M33V,ENSG00000164930:ENST00000519011:exon2:c.A97G:p.M33V,ENSG00000164930:ENST00000522484:exon2:c.A97G:p.M33V,ENSG00000164930:ENST00000522566:exon2:c.A97G:p.M33V,ENSG00000164930:ENST00000523739:exon3:c.A1G:p.M1V,ENSG00000164930:ENST00000523933:exon3:c.A1G:p.M1V Score=578;Name=lod=297 NA 8q22.3 NA Name=Pol2 Name=48 NA rs827528 0.17 0.17 0.175 0.170128 0.2704 0.0129 0.1657 0.2156 0.1708 0.27 0.01 0.2 0.2 0.2237 0.27 0.18 T 0.0 B 0.001 B 0.122 N 0.000 P 0.85 L -0.93 T -1.096 T 0.000 T 0.106 1.756 11.83 -0.683 -0.097 -0.195 2.979 1.756296 1.756296 0.68 0.265 0.211076 ID=COSM1453718;OCCURENCE=1(large_intestine) 0.225 NA 9.5742334 703 17 62041068 62041068 T C exonic SCN4A NA nonsynonymous SNV SCN4A:NM_000334:exon10:c.A1570G:p.S524G exonic ENSG00000007314 NA nonsynonymous SNV ENSG00000007314:ENST00000435607:exon10:c.A1570G:p.S524G,ENSG00000007314:ENST00000578147:exon10:c.A1570G:p.S524G Score=431;Name=lod=75 NA 17q23.3 Score=766;Name=V$PAX5_02 NA NA NA rs6504191 0.94 0.94 0.938 0.944289 0.9115 1 0.9553 0.9002 0.9724 0.91 1 0.96 0.91 0.9288 1 0.46 T 0.0 B 0.0 B 0.492 N 1.000 P 0.895 L -3.91 D -0.934 T 0.000 T 0.057 -0.912 0.413 1.63 -0.067 1.343 7.126 -0.912228 NA 0.38 0.919218 0.907753 NA 0.949 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118264.1;CLNDSDB=.;CLNDSDBID=. 9.5738154 703 20 60966318 60966318 G T exonic CABLES2 NA nonsynonymous SNV CABLES2:NM_031215:exon9:c.C1283A:p.T428K exonic ENSG00000149679 NA nonsynonymous SNV ENSG00000149679:ENST00000279101:exon9:c.C1283A:p.T428K Score=429;Name=lod=74 NA 20q13.33 NA Name=Pol2-4H8,Pol2 Name=5 NA rs6089219 0.88 0.88 0.895 0.902556 0.9264 0.7004 0.9452 0.9955 0.9305 0.92 0.68 0.95 0.99 0.909 0.99 1 T 0.0 B 0.003 B 0.000 N 0.999 P -1.895 N 2.31 T -0.953 T 0.000 T 0.412 -0.125 3.386 5.56 0.947 4.101 12.912 -0.125395 NA 1 0.92593 0.981616 NA 0.855 NA 9.5720034 703 20 2375262 2375262 A G exonic TGM6 NA nonsynonymous SNV TGM6:NM_001254734:exon2:c.A172G:p.M58V,TGM6:NM_198994:exon2:c.A172G:p.M58V exonic ENSG00000166948 NA nonsynonymous SNV ENSG00000166948:ENST00000202625:exon2:c.A172G:p.M58V,ENSG00000166948:ENST00000381423:exon2:c.A172G:p.M58V Score=403;Name=lod=58 NA 20p13 NA NA NA NA rs2076405 0.86 0.86 0.858 0.877995 0.9284 0.6825 0.9236 0.9576 0.8875 0.93 0.67 0.92 0.95 0.9071 0.96 1 T 0.0 B 0.0 B 0.019 N 1.000 P -2.075 N -1.71 D -0.954 T 0.000 T 0.051 -1.696 0.011 3.66 0.664 2.253 7.763 -1.696461 NA 1 0.92814 0.955061 NA 0.92 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118626.2;CLNDSDB=.;CLNDSDBID=. 9.5696934 703 11 72945341 72945341 C T exonic P2RY2 NA nonsynonymous SNV P2RY2:NM_002564:exon3:c.C137T:p.P46L,P2RY2:NM_176071:exon3:c.C137T:p.P46L,P2RY2:NM_176072:exon3:c.C137T:p.P46L exonic ENSG00000175591 NA nonsynonymous SNV ENSG00000175591:ENST00000311131:exon3:c.C137T:p.P46L,ENSG00000175591:ENST00000393596:exon3:c.C137T:p.P46L,ENSG00000175591:ENST00000393597:exon3:c.C137T:p.P46L Score=589;Name=lod=331 NA 11q13.4 Score=815;Name=V$AHRARNT_02 NA Name=2 NA rs2511241 0.91 0.91 0.894 0.907348 0.9165 0.8839 0.9553 0.9017 0.8957 0.91 0.89 0.94 0.89 0.9222 0.94 1 T 0.0 B 0.0 B 0.016 N 0.959 P -0.805 N 1.56 T -0.955 T 0.000 T 0.163 0.015 4.093 5.28 0.853 6.217 10.450 0.01524 NA 1 0.926275 0.908409 NA 0.855 NA 9.5683584 703 3 12858028 12858028 T C exonic CAND2 NA nonsynonymous SNV CAND2:NM_012298:exon8:c.T1318C:p.S440P,CAND2:NM_001162499:exon10:c.T1597C:p.S533P exonic ENSG00000144712 NA nonsynonymous SNV ENSG00000144712:ENST00000295989:exon8:c.T1318C:p.S440P,ENSG00000144712:ENST00000456430:exon10:c.T1597C:p.S533P Score=523;Name=lod=178 NA 3p25.2 Score=865;Name=V$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 703 19 43857873 43857873 G C exonic CD177 NA unknown UNKNOWN exonic ENSG00000204936 NA nonsynonymous SNV ENSG00000204936:ENST00000378009:exon1:c.G7C:p.A3P,ENSG00000204936:ENST00000378012:exon1:c.G7C:p.A3P,ENSG00000204936:ENST00000457794:exon1:c.G7C:p.A3P NA NA 19q13.31 NA NA Name=4 NA rs45441892 0.45 0.45 0.438 0.459665 0.3519 0.7173 0.4726 0.3147 0.4918 0.35 0.69 0.45 0.34 0.4025 0.69 1 T 0.0 B 0.0 B . . 1.000 P -2.175 N 3.07 T -0.971 T 0.000 T 0.021 -1.198 0.073 -3.7 -0.973 -1.873 4.753 -1.197988 NA 1 0.344388 0.301205 NA 0.232 NA 9.5678787 703 19 58868480 58868480 G T exonic ZNF497 NA nonsynonymous SNV ZNF497:NM_001207009:exon2:c.C522A:p.H174Q,ZNF497:NM_198458:exon3:c.C522A:p.H174Q exonic ENSG00000174586 NA nonsynonymous SNV ENSG00000174586:ENST00000425453:exon2:c.C522A:p.H174Q,ENSG00000174586:ENST00000311044:exon3:c.C522A:p.H174Q Score=366;Name=lod=41 NA 19q13.43 NA NA Name=20 NA rs12609654 0.37 0.37 0.372 0.382788 0.4006 0.1825 0.3746 0.4856 0.4376 0.4 0.19 0.43 0.48 0.4124 0.5 0.13 T 0.484 P 0.042 B . . 1.000 P 0.235 N 1.3 T -0.916 T 0.000 T 0.119 2.12 13.05 -0.577 -0.298 -1.525 5.758 2.120431 2.120431 0.14 0.453826 0.501589 NA 0.457 NA 9.5665074 703 11 5842310 5842310 T G exonic OR52N2 NA nonsynonymous SNV OR52N2:NM_001005174:exon1:c.T745G:p.S249A exonic ENSG00000180988 NA nonsynonymous SNV ENSG00000180988:ENST00000317037:exon1:c.T745G:p.S249A Score=300;Name=lod=22 NA 11p15.4 NA NA NA NA rs8181529 0.52 0.52 0.523 0.502995 0.5845 0.4702 0.5086 0.447 0.5245 0.59 0.48 0.53 0.45 0.5621 0.62 0.32 T 0.0 B 0.0 B 0.000 N 0.000 P -2.315 N 8.86 T -1.066 T 0.000 T 0.031 -0.153 3.251 6.09 1.605 1.663 15.769 -0.153283 NA 0.52 0.620461 0.47274 NA 0.514 NA 9.5662724 703 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$MYB_Q6 Name=Sin3Ak-20,Pol2,E2F6_(H-50),E2F6 Name=94 NA rs2297815 0.27 0.27 0.272 0.255591 0.4016 0.1389 0.3256 0.2231 0.2198 0.41 0.15 0.32 0.17 0.3339 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.619851 1.619851 NA 0.365246 0.239645 NA 0.022 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000038862.2;CLNDSDB=.;CLNDSDBID=. 9.5659206 703 11 64051823 64051823 C T exonic BAD NA synonymous SNV BAD:NM_004322:exon1:c.G18A:p.E6E,BAD:NM_032989:exon2:c.G18A:p.E6E exonic ENSG00000002330 NA synonymous SNV ENSG00000002330:ENST00000394532:exon1:c.G18A:p.E6E,ENSG00000002330:ENST00000544785:exon1:c.G18A:p.E6E,ENSG00000002330:ENST00000309032:exon2:c.G18A:p.E6E,ENSG00000002330:ENST00000394531:exon2:c.G18A:p.E6E Score=484;Name=lod=124 NA 11q13.1 Score=970;Name=V$PAX2_02 Name=Sin3Ak-20 Name=5 NA rs34882006 0.01 0.01 0.01 0.00958466 0.0308 NA 0.0187 0.0015 0.002 0.03 NA 0.02 NA 0.0294 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 1.800507 1.800507 0 0.040736 0.008632 NA 0.014 NA 9.5657306 703 9 133963008 133963008 G A exonic LAMC3 NA nonsynonymous SNV LAMC3:NM_006059:exon26:c.G4376A:p.R1459Q exonic ENSG00000050555 NA nonsynonymous SNV ENSG00000050555:ENST00000361069:exon26:c.G4376A:p.R1459Q NA NA 9q34.12 NA NA NA NA rs4740412 0.17 0.17 0.164 0.163339 0.2714 0.0833 0.2435 0.0635 0.2127 0.26 0.07 0.26 0.08 0.2309 0.27 0.56 T 0.001 B 0.0 B 0.164 N 1.000 P -1.155 N 1.73 T -0.983 T 0.000 T 0.184 -0.763 0.779 -4.34 -0.993 -0.404 8.393 -0.763118 NA 0.5 0.26593 0.08148 NA 0.261 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117473.2|RCV000126561.1;CLNDSDB=.|.;CLNDSDBID=.|. 9.5651034 704 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 704 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 704 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 704 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 704 2 102968211 102968211 C A exonic IL1RL1 NA nonsynonymous SNV IL1RL1:NM_016232:exon11:c.C1501A:p.Q501K exonic ENSG00000115602 NA nonsynonymous SNV ENSG00000115602:ENST00000233954:exon11:c.C1501A:p.Q501K NA NA 2q12.1 Score=858;Name=V$ZID_01 NA NA NA rs10192036 0.32 0.32 NA 0.381989 0.4046 0.125 0.2853 0.7428 0.2045 0.33 0.14 0.26 0.57 0.3483 0.57 1 T 0.0 B 0.002 B 0.655 N 1.000 P -0.29 N 3.3 T -0.909 T 0.000 T 0.015 -2.499 0.003 -4.59 -1.047 -0.392 20.751 -2.498675 NA 0.92 0.017907 0.068543 NA NA NA 9.5625264 704 17 5485367 5485367 A T exonic NLRP1 NA nonsynonymous SNV NLRP1:NM_001033053:exon3:c.T464A:p.L155H,NLRP1:NM_014922:exon3:c.T464A:p.L155H,NLRP1:NM_033004:exon3:c.T464A:p.L155H,NLRP1:NM_033006:exon3:c.T464A:p.L155H,NLRP1:NM_033007:exon3:c.T464A:p.L155H exonic ENSG00000091592 NA nonsynonymous SNV ENSG00000091592:ENST00000262467:exon3:c.T464A:p.L155H,ENSG00000091592:ENST00000345221:exon3:c.T464A:p.L155H,ENSG00000091592:ENST00000354411:exon3:c.T464A:p.L155H,ENSG00000091592:ENST00000544378:exon3:c.T464A:p.L155H,ENSG00000091592:ENST00000571451:exon3:c.T464A:p.L155H,ENSG00000091592:ENST00000572272:exon3:c.T464A:p.L155H,ENSG00000091592:ENST00000577119:exon3:c.T464A:p.L155H,ENSG00000091592:ENST00000269280:exon4:c.T464A:p.L155H NA NA 17p13.2 NA NA NA NA rs12150220 0.23 0.23 0.194 0.192093 0.4443 0.0308 0.3674 0.034 0.1881 0.44 0.03 0.36 0.04 0.3749 0.45 0.15 T 0.997 D 0.823 P . . 1.000 P 0.345 N 0.99 T -0.972 T 0.000 T 0.252 1.746 11.8 -1.07 -0.277 -1.072 0.444 1.745635 1.745635 0.13 0.451628 0.099183 ID=COSM1130227;OCCURENCE=1(prostate) 0.196 CLINSIG=other;CLNDBN=Vitiligo-associated_multiple_autoimmune_disease_susceptibility_1;CLNREVSTAT=single;CLNACC=RCV000004380.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1847835:606579 9.5625054 704 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 704 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 704 12 51236802 51236802 T C exonic TMPRSS12 NA nonsynonymous SNV TMPRSS12:NM_182559:exon1:c.T55C:p.Y19H exonic ENSG00000186452 NA nonsynonymous SNV ENSG00000186452:ENST00000398458:exon1:c.T55C:p.Y19H,ENSG00000186452:ENST00000551456:exon1:c.T55C:p.Y19H NA NA 12q13.12 NA Name=CTCF,TAF1,CTCF_(SC-5916),YY1_(C-20),Rad21,TBP Name=25 NA rs10876100 0.29 0.29 0.245 0.298922 0.2207 0.4038 0.2709 0.3328 0.2454 0.2 0.37 0.28 0.33 0.3357 0.37 0.51 T 0.0 B 0.0 B 0.406 N 1.000 P 0 N -2.53 D -1.097 T 0.000 T 0.024 0.023 4.132 1.08 -0.057 -0.077 6.967 0.022751 NA 0.33 0.216888 0.323676 NA 0.232 NA 9.5600454 704 3 164714532 164714532 C T exonic SI NA nonsynonymous SNV SI:NM_001041:exon39:c.G4569A:p.M1523I exonic ENSG00000090402 NA nonsynonymous SNV ENSG00000090402:ENST00000264382:exon39:c.G4569A:p.M1523I Score=558;Name=lod=247 NA 3q26.1 NA NA NA NA rs4855271 0.93 0.93 0.935 0.909744 0.9344 0.9355 0.8372 0.9281 0.8845 0.93 0.94 0.85 0.95 0.9106 0.96 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.43 N -2.54 D -0.926 T 0.000 T 0.053 -0.522 1.619 -6.92 -1.338 -1.343 3.369 -0.522087 NA 1 0.928814 0.908061 NA 0.942 NA 9.5595194 704 11 5373242 5373242 T G exonic OR51B6 NA nonsynonymous SNV OR51B6:NM_001004750:exon1:c.T505G:p.S169A exonic ENSG00000176239 NA nonsynonymous SNV ENSG00000176239:ENST00000380219:exon1:c.T505G:p.S169A NA NA 11p15.4 NA NA NA NA rs5006885 0.22 0.22 0.227 0.237819 0.2684 0.0863 0.2392 0.3366 0.228 0.26 0.05 0.26 0.34 0.24 0.34 0.13 T 0.995 D 0.912 D 0.015 N 0.329 P 1.57 L 8.71 T -0.851 T 0.000 T 0.136 2.238 13.44 2.77 0.394 -0.362 9.095 2.238074 2.238074 0.04 0.265418 0.299864 NA 0.239 NA 9.5595154 704 11 108381247 108381247 C T exonic EXPH5 NA nonsynonymous SNV EXPH5:NM_015065:exon6:c.G4987A:p.G1663R exonic ENSG00000110723 NA nonsynonymous SNV ENSG00000110723:ENST00000443411:exon3:c.G4423A:p.G1475R,ENSG00000110723:ENST00000265843:exon6:c.G4987A:p.G1663R,ENSG00000110723:ENST00000428840:exon6:c.G4759A:p.G1587R,ENSG00000110723:ENST00000526312:exon6:c.G4759A:p.G1587R,ENSG00000110723:ENST00000525344:exon7:c.G4966A:p.G1656R NA NA 11q22.3 NA NA NA NA rs2640779 0.32 0.32 0.299 0.286342 0.2465 0.6419 0.3689 0.028 0.2515 0.27 0.65 0.32 0.04 0.2921 0.65 0.5 T 0.049 B 0.017 B 0.193 N 1.000 P 1.61 L 4.38 T -1.110 T 0.000 T 0.333 1.623 11.38 3.44 1.178 1.616 11.093 1.622865 1.622865 0.09 0.236971 0.062699 ID=COSM147321;OCCURENCE=1(stomach),1(prostate) 0.196 NA 9.5577624 704 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 704 2 38298203 38298203 C G exonic CYP1B1 NA nonsynonymous SNV CYP1B1:NM_000104:exon3:c.G1294C:p.V432L exonic ENSG00000138061 NA nonsynonymous SNV ENSG00000138061:ENST00000260630:exon3:c.G1294C:p.V432L,ENSG00000138061:ENST00000407341:exon3:c.G1294C:p.V432L NA NA 2p22.2 Score=863;Name=V$NFE2_01 NA Name=9 NA rs1056836 0.61 0.61 0.556 0.614816 0.6024 0.9087 0.7233 0.1831 0.8313 0.63 0.9 0.69 0.19 0.6195 0.9 0.31 T 0.001 B 0.006 B 0.543 N 1.000 P . . -0.3 T -0.849 T 0.000 T 0.101 1.229 9.985 5.95 2.824 0.163 13.469 1.229235 NA 0.34 0.55593 0.230141 ID=COSM1408012;OCCURENCE=1(large_intestine) 0.435 NA 9.5555034 704 3 111921225 111921225 G T exonic SLC9C1 NA nonsynonymous SNV SLC9C1:NM_183061:exon18:c.C2194A:p.Q732K exonic ENSG00000172139 NA nonsynonymous SNV ENSG00000172139:ENST00000487372:exon17:c.C2050A:p.Q684K,ENSG00000172139:ENST00000305815:exon18:c.C2194A:p.Q732K Score=340;Name=lod=32 NA 3q13.2 NA NA NA NA rs6781844 0.81 0.81 0.786 0.830072 0.7316 0.9891 0.8473 0.6974 0.9346 0.74 0.99 0.8 0.71 0.7922 0.99 0.95 T 0.524 P 0.095 B 0.119 N 0.994 P 0.77 N -0.95 T -0.916 T 0.000 T 0.068 1.366 10.49 5.09 1.505 1.611 13.191 1.366115 1.366115 0.28 0.754423 0.712665 NA 0.761 NA 9.5551104 705 22 45132704 45132704 T C exonic PRR5 NA synonymous SNV PRR5:NM_001017529:exon8:c.T459C:p.P153P,PRR5:NM_001017530:exon8:c.T459C:p.P153P,PRR5:NM_181333:exon8:c.T744C:p.P248P,PRR5:NM_001017528:exon9:c.T717C:p.P239P,PRR5:NM_015366:exon9:c.T717C:p.P239P,PRR5:NM_001198721:exon10:c.T813C:p.P271P exonic ENSG00000186654 NA synonymous SNV ENSG00000186654:ENST00000336985:exon8:c.T744C:p.P248P,ENSG00000186654:ENST00000006251:exon9:c.T717C:p.P239P,ENSG00000186654:ENST00000432186:exon9:c.T717C:p.P239P,ENSG00000186654:ENST00000403581:exon10:c.T813C:p.P271P NA NA 22q13.31 Score=828;Name=V$GR_Q6 NA NA NA rs6006864 0.06 0.06 0.018 0.0720847 0.0308 0.0704 0.1153 0.084 0.0695 0.03 0.06 0.09 0.07 0.0509 0.09 . . . . . . . . 0.000 P . . . . -1.094 T 0.002 T . 1.048 9.279 -10.8 -2.659 -5.956 5.761 1.047682 NA NA 0.030254 0.072855 NA 0.036 NA 9.5547126 705 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 705 17 39883350 39883350 G A exonic HAP1 NA nonsynonymous SNV HAP1:NM_001079870:exon8:c.C1271T:p.T424M,HAP1:NM_001079871:exon8:c.C1247T:p.T416M,HAP1:NM_177977:exon9:c.C1322T:p.T441M exonic ENSG00000173805 NA nonsynonymous SNV ENSG00000173805:ENST00000341193:exon8:c.C1271T:p.T424M,ENSG00000173805:ENST00000393939:exon8:c.C1247T:p.T416M,ENSG00000173805:ENST00000347901:exon9:c.C1322T:p.T441M,ENSG00000173805:ENST00000310778:exon10:c.C1478T:p.T493M NA NA 17q21.2 NA NA NA NA rs4523977 0.2 0.2 0.184 0.198882 0.2346 0.249 0.2017 0.0121 0.3609 0.24 0.29 0.22 0.03 0.324 0.29 0.3 T 0.44 B 0.037 B 0.800 N 1.000 P -0.46 N 3.58 T -0.902 T 0.000 T 0.073 -0.293 2.601 -4.26 -1.024 -1.167 5.319 -0.293044 NA 0 0.220465 0.044031 NA 0.203 NA 9.5542684 705 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 705 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 705 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 705 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 705 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 705 19 990281 990281 G A exonic WDR18 NA nonsynonymous SNV WDR18:NM_024100:exon4:c.G514A:p.A172T exonic ENSG00000065268 NA nonsynonymous SNV ENSG00000065268:ENST00000251289:exon4:c.G514A:p.A172T,ENSG00000065268:ENST00000587001:exon4:c.G514A:p.A172T Score=522;Name=lod=177 NA 19p13.3 Score=868;Name=V$AHRARNT_01 Name=GR NA NA rs2158367 0.88 0.88 0.91 0.890375 0.9553 0.7679 0.7651 0.9977 0.8937 0.95 0.73 0.8 1 0.893 1 0.7 T 0.0 B 0.0 B 0.000 N 1.000 P -1.08 N 2.37 T -0.976 T 0.000 T 0.018 0.774 8.087 4.12 0.643 4.081 8.866 0.77369 NA 0.69 0.93782 0.988356 NA 0.768 NA 9.5472134 705 1 156206121 156206121 G A exonic PMF1,PMF1-BGLAP NA nonsynonymous SNV PMF1-BGLAP:NM_001199664:exon2:c.G204A:p.M68I,PMF1:NM_001199654:exon4:c.G417A:p.M139I,PMF1-BGLAP:NM_001199662:exon4:c.G411A:p.M137I,PMF1:NM_007221:exon4:c.G411A:p.M137I exonic ENSG00000160783,ENSG00000260238 NA nonsynonymous SNV ENSG00000160783:ENST00000368273:exon4:c.G417A:p.M139I,ENSG00000160783:ENST00000368277:exon4:c.G411A:p.M137I,ENSG00000260238:ENST00000490491:exon4:c.G411A:p.M137I Score=431;Name=lod=75 NA 1q22 NA NA NA NA rs1052067 0.21 0.21 0.188 0.19369 0.2773 0.2073 0.219 0.1127 0.1851 0.29 0.2 0.21 0.11 0.2344 0.29 0.08 T 0.139 B 0.127 B . . 0.000 P 1.265 L 1.7 T -1.085 T 0.027 T 0.085 1.999 12.64 3.93 0.802 2.057 10.624 1.999039 1.999039 0.1 0.274535 0.162279 ID=COSM424117;OCCURENCE=1(breast) 0.181 NA 9.5470984 705 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 705 8 143845982 143845982 T C UTR3 LYNX1 NM_023946:c.*41A>G,NM_177458:c.*41A>G NA NA exonic ENSG00000180155 NA nonsynonymous SNV ENSG00000180155:ENST00000521396:exon3:c.A160G:p.S54G NA NA 8q24.3 NA NA NA NA rs1075542 0.36 0.36 NA 0.373802 0.2475 0.5635 0.245 0.4047 0.3579 0.25 0.56 0.22 0.42 0.3148 0.56 0 D . . . . . . 1.000 P . . . . -0.960 T 0.000 T 0.049 -0.036 3.83 -4.66 -1.900 -1.350 2.661 -0.035927 NA NA 0.224656 0.358963 NA 0.355 NA 9.5463774 705 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 705 10 30629226 30629226 G A exonic MTPAP NA nonsynonymous SNV MTPAP:NM_018109:exon3:c.C484T:p.R162C exonic ENSG00000107951 NA nonsynonymous SNV ENSG00000107951:ENST00000263063:exon3:c.C484T:p.R162C,ENSG00000107951:ENST00000417581:exon3:c.C289T:p.R97C,ENSG00000107951:ENST00000421701:exon3:c.C370T:p.R124C,ENSG00000107951:ENST00000358107:exon4:c.C874T:p.R292C NA NA 10p11.23 NA NA NA NA rs1047991 0.21 0.21 0.232 0.21845 0.2495 0.2103 0.121 0.1929 0.2986 0.25 0.24 0.16 0.14 0.25 0.29 0.07 T 0.025 B 0.004 B 0.001 N 1.000 P 0 N 2.02 T -1.054 T 0.000 T 0.052 0.685 7.66 -10.2 -4.256 -3.273 5.521 0.684719 NA 0.06 0.287907 0.212211 NA 0.275 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117635.2|RCV000126859.1;CLNDSDB=.|.;CLNDSDBID=.|. 9.5459264 706 1 46078854 46078854 A G exonic NASP NA synonymous SNV NASP:NM_001195193:exon5:c.A1248G:p.S416S,NASP:NM_152298:exon6:c.A423G:p.S141S,NASP:NM_002482:exon7:c.A1440G:p.S480S exonic ENSG00000132780 NA synonymous SNV ENSG00000132780:ENST00000528238:exon4:c.A231G:p.S77S,ENSG00000132780:ENST00000372052:exon5:c.A342G:p.S114S,ENSG00000132780:ENST00000525515:exon5:c.A375G:p.S125S,ENSG00000132780:ENST00000537798:exon5:c.A1248G:p.S416S,ENSG00000132780:ENST00000351223:exon6:c.A423G:p.S141S,ENSG00000132780:ENST00000350030:exon7:c.A1440G:p.S480S,ENSG00000132780:ENST00000437901:exon7:c.A423G:p.S141S,ENSG00000132780:ENST00000402363:exon8:c.A1446G:p.S482S Score=549;Name=lod=228 NA 1p34.1 NA NA Name=5 NA rs2230658 0.69 0.69 0.67 0.679113 0.7177 0.6577 0.6527 0.733 0.6074 0.71 0.64 0.69 0.73 0.6993 0.75 . . . . . . . . 0.000 P . . . . -0.969 T 0.000 T . 0.982 9.01 3.18 2.248 1.628 6.815 0.982274 NA NA 0.704884 0.75034 NA 0.572 NA 9.5447826 706 4 72618323 72618323 G T exonic GC NA nonsynonymous SNV GC:NM_000583:exon11:c.C1307A:p.T436K,GC:NM_001204306:exon12:c.C1307A:p.T436K,GC:NM_001204307:exon12:c.C1364A:p.T455K exonic ENSG00000145321 NA nonsynonymous SNV ENSG00000145321:ENST00000273951:exon11:c.C1307A:p.T436K,ENSG00000145321:ENST00000513476:exon11:c.C1307A:p.T436K,ENSG00000145321:ENST00000504199:exon12:c.C1364A:p.T455K NA NA 4q13.3 NA NA Name=4 NA rs4588 0.22 0.22 0.19 0.207867 0.2475 0.2609 0.2075 0.0673 0.3027 0.25 0.28 0.24 0.07 0.2528 0.29 0.54 T 0.009 B 0.011 B 0.226 N 1.000 P . . 2.33 T -0.939 T 0.000 T 0.067 -0.372 2.25 -2.73 -0.461 -0.484 5.763 -0.371885 NA 0.61 0.289419 0.105992 NA 0.297 CLINSIG=non-pathogenic;CLNDBN=GC1/GC2_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000017356.2;CLNDSDB=.;CLNDSDBID=. 9.5436144 706 19 58991900 58991900 G A exonic ZNF446 NA nonsynonymous SNV ZNF446:NM_017908:exon7:c.G1160A:p.R387H exonic ENSG00000083838 NA nonsynonymous SNV ENSG00000083838:ENST00000594369:exon7:c.G1160A:p.R387H,ENSG00000083838:ENST00000596341:exon7:c.G1007A:p.R336H NA NA 19q13.43 NA NA NA NA rs882610 0.29 0.29 0.289 0.284145 0.2535 0.2619 0.1772 0.4349 0.2106 0.27 0.25 0.2 0.44 0.2614 0.44 0.02 D 0.0 B 0.0 B 0.597 N 1.000 P 1.89 L . . -0.987 T 0.000 T 0.11 0.216 5.166 2.0 0.327 1.172 6.263 0.216171 NA 0.02 0.277222 0.414662 NA 0.333 NA 9.5412114 706 10 32745248 32745248 A C exonic CCDC7 NA nonsynonymous SNV CCDC7:NM_001026383:exon4:c.A442C:p.K148Q,CCDC7:NM_145023:exon4:c.A442C:p.K148Q exonic ENSG00000216937 NA nonsynonymous SNV ENSG00000216937:ENST00000535327:exon3:c.A442C:p.K148Q,ENSG00000216937:ENST00000537047:exon3:c.A442C:p.K148Q,ENSG00000216937:ENST00000539197:exon3:c.A442C:p.K148Q,ENSG00000216937:ENST00000277657:exon4:c.A442C:p.K148Q,ENSG00000216937:ENST00000362006:exon4:c.A442C:p.K148Q,ENSG00000216937:ENST00000476558:exon4:c.A442C:p.K148Q,ENSG00000216937:ENST00000545067:exon4:c.A442C:p.K148Q NA NA 10p11.22 NA NA NA NA rs56391924 0.11 0.11 0.079 0.140974 0.0875 0.1696 0.2305 0.0038 0.2883 0.09 0.17 0.18 0.01 0.1214 0.18 0.1 T 0.738 P 0.392 B . . 1.000 P 1.04 L 0.13 T -1.099 T 0.000 T 0.276 1.407 10.64 2.44 0.735 1.280 4.545 1.406881 1.406881 0.05 0.083799 0.019982 NA 0.13 NA 9.5406344 706 11 3249552 3249552 C T exonic MRGPRE NA nonsynonymous SNV MRGPRE:NM_001039165:exon2:c.G478A:p.G160S exonic ENSG00000184350 NA nonsynonymous SNV ENSG00000184350:ENST00000389832:exon2:c.G478A:p.G160S,ENSG00000184350:ENST00000436689:exon2:c.G475A:p.G159S NA NA 11p15.4 Score=846;Name=V$AHRARNT_01 Name=Max NA NA rs4391795 0.33 0.33 0.318 0.292931 0.4523 0.378 0.2392 0.0953 0.3466 0.46 0.4 0.28 0.08 0.4564 0.46 0.36 T 0.989 D 0.776 P 0.328 U 1.000 P 1.21 L . . -0.931 T 0.000 T 0.107 0.648 7.476 0.817 -0.017 0.733 5.630 0.64761 NA 0.93 0.384112 0.116521 NA 0.116 NA 9.5405214 706 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=Pol2(phosphoS2),USF-1,FOXA1_(C-20),Pol2,HA-E2F1,USF1_(SC-8983),FOXA1_(SC-101058),TAF7_(SQ-8),p300,POU2F2,NFKB,IRF4_(M-17),c-Jun,TAF1,RFX5_(N-494),Pol2-4H8,HNF4G_(SC-6558),ELF1_(SC-631),HNF4A,HEY1,GRp20,ATF3,YY1_(C-20),ZBTB33,FOXA2_(SC-6554),TCF4,Max,SP1,SRF,Oct-2,c-Myc,SIX5,eGFP-JunD,RXRA,Sin3Ak-20,NRSF,Mxi1_(bHLH),PAX5-C20,MEF2C_(SC-13268),TR4,TBP,CCNT2,Pol2(b),CEBPB,YY1,BRCA1_(C-1863),MafK_(SC-477),GTF2F1_(RAP-74),GR,ZNF263,JunD 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 706 1 48708228 48708228 G T exonic SLC5A9 NA stopgain SLC5A9:NM_001011547:exon13:c.G1777T:p.E593X,SLC5A9:NM_001135181:exon14:c.G1852T:p.E618X exonic ENSG00000117834 NA stopgain ENSG00000117834:ENST00000438567:exon13:c.G1777T:p.E593X,ENSG00000117834:ENST00000236495:exon14:c.G1852T:p.E618X,ENSG00000117834:ENST00000533824:exon14:c.G1840T:p.E614X NA NA 1p33 NA NA NA NA rs850763 0.11 0.11 0.105 0.113818 0.1581 0.0109 0.1037 0.1142 0.181 0.16 0.01 0.11 0.13 0.146 0.16 0.37 T . . . . 0.123 N 0.000 P . . . . . . . . . 3.601 18.33 2.61 0.491 1.339 9.569 3.601378 3.601378 0.25 0.155465 0.133681 NA 0.116 NA 9.540435 706 11 68705674 68705674 C A exonic IGHMBP2 NA nonsynonymous SNV IGHMBP2:NM_002180:exon14:c.C2636A:p.T879K exonic ENSG00000132740 NA nonsynonymous SNV ENSG00000132740:ENST00000255078:exon14:c.C2636A:p.T879K NA NA 11q13.3 NA NA Name=3 NA rs17612126 0.23 0.23 0.192 0.197085 0.2654 0.2212 0.438 0.0166 0.1748 0.27 0.25 0.38 0.02 0.2498 0.38 0.93 T 0.215 B 0.03 B 0.000 N 1.000 P 1.04 L -2.51 D -0.931 T 0.000 T 0.05 -0.836 0.585 -3.62 -0.893 0.878 0.369 -0.83553 NA 0.84 0.277946 0.077727 NA 0.196 NA 9.5401874 706 17 39334133 39334133 T C exonic KRTAP4-2 NA nonsynonymous SNV KRTAP4-2:NM_033062:exon1:c.A284G:p.Y95C exonic ENSG00000244537 NA nonsynonymous SNV ENSG00000244537:ENST00000377726:exon1:c.A284G:p.Y95C Score=329;Name=lod=29 NA 17q21.2 Score=833;Name=V$GR_Q6 NA NA NA rs389784 0.94 0.94 0.92 0.952077 0.9324 0.9484 0.9741 0.9395 0.9775 0.92 0.95 0.97 0.92 0.9399 0.97 1 T 0.001 B 0.0 B . . 0.940 P -4.31 N 5.76 T -0.981 T 0.000 T 0.234 1.386 10.57 4.65 1.072 1.484 11.094 1.386287 1.386287 0.64 0.922817 0.942552 NA 0.471 NA 9.5382164 706 15 56152872 56152872 C T exonic NEDD4 NA nonsynonymous SNV NEDD4:NM_198400:exon3:c.G1820A:p.R607Q,NEDD4:NM_006154:exon10:c.G779A:p.R260Q exonic ENSG00000069869 NA nonsynonymous SNV ENSG00000069869:ENST00000338963:exon3:c.G1820A:p.R607Q,ENSG00000069869:ENST00000506154:exon6:c.G1988A:p.R663Q,ENSG00000069869:ENST00000508342:exon6:c.G2036A:p.R679Q,ENSG00000069869:ENST00000435532:exon10:c.G779A:p.R260Q Score=313;Name=lod=25 NA 15q21.3 NA Name=CTCF NA NA rs2303580 0.67 0.67 0.675 0.673922 0.7604 0.5962 0.6383 0.6218 0.7607 0.77 0.59 0.69 0.63 0.7413 0.8 0.28 T 0.744 P 0.115 B 0.106 N 0.000 P 1.04 L 2.18 T -0.921 T 0.000 T 0.144 2.807 15.35 2.75 0.320 1.868 10.245 2.806629 2.806629 0.34 0.79555 0.613315 NA 0.667 NA 9.5360834 706 22 46860088 46860088 G C exonic CELSR1 NA synonymous SNV CELSR1:NM_014246:exon2:c.C3699G:p.A1233A exonic ENSG00000075275 NA synonymous SNV ENSG00000075275:ENST00000262738:exon2:c.C3699G:p.A1233A,ENSG00000075275:ENST00000395964:exon2:c.C3699G:p.A1233A NA NA 22q13.31 NA NA NA NA rs3747251 0.17 0.17 0.176 0.194489 0.0308 0.1944 0.0692 0.4894 0.0532 0.02 0.21 0.05 0.43 0.076 0.43 . . . . . . . . 0.000 P . . . . -0.939 T 0.000 T . 0.95 8.876 -4.79 -0.979 -4.855 6.153 0.950443 NA NA 0.02407 0.408988 NA 0.167 NA 9.5357966 706 7 99696797 99696797 T C exonic MCM7 NA nonsynonymous SNV MCM7:NM_005916:exon5:c.A431G:p.N144S exonic ENSG00000166508 NA nonsynonymous SNV ENSG00000166508:ENST00000303887:exon5:c.A431G:p.N144S,ENSG00000166508:ENST00000343023:exon5:c.A431G:p.N144S,ENSG00000166508:ENST00000425308:exon5:c.A110G:p.N37S NA NA 7q22.1 NA Name=Pol2,HEY1,Pol2-4H8 Name=2 NA rs2070215 0.2 0.2 0.175 0.195887 0.2734 0.2758 0.1902 0.0129 0.2853 0.27 0.26 0.2 0.02 0.2385 0.29 0.89 T 0.0 B 0.0 B 0.480 N 1.000 P -1.24 N 2.88 T -0.956 T 0.000 T 0.101 -0.419 2.044 -3.6 -0.576 -0.062 7.476 -0.419462 NA 1 0.28593 0.065138 ID=COSM150336;OCCURENCE=1(stomach) 0.232 NA 9.5355034 706 17 5087040 5087040 A G exonic ZNF594 NA nonsynonymous SNV ZNF594:NM_032530:exon2:c.T512C:p.I171T exonic ENSG00000180626 NA nonsynonymous SNV ENSG00000180626:ENST00000399604:exon1:c.T512C:p.I171T,ENSG00000180626:ENST00000575779:exon2:c.T512C:p.I171T NA NA 17p13.2 NA Name=ZNF274 NA NA rs9908414 0.28 0.28 NA 0.226438 0.4354 0.0972 0.4265 0.1233 0.1421 0.43 0.09 0.43 0.14 0.3625 0.43 0.75 T 0.0 B 0.001 B . . 1.000 P 1.32 L 1.19 T -0.916 T 0.000 T 0.094 -4.055 0.001 -2.72 -0.853 -1.675 6.350 -4.054948 NA 0.66 NA NA ID=COSM1384544;OCCURENCE=1(large_intestine) 0.348 NA 9.5354334 707 6 32299822 32299822 G A intronic C6orf10 NA NA NA exonic ENSG00000204296 NA nonsynonymous SNV ENSG00000204296:ENST00000375007:exon15:c.C476T:p.P159L,ENSG00000204296:ENST00000442822:exon15:c.C413T:p.P138L,ENSG00000204296:ENST00000447241:exon15:c.C482T:p.P161L,ENSG00000204296:ENST00000527965:exon15:c.C413T:p.P138L,ENSG00000204296:ENST00000375015:exon16:c.C434T:p.P145L,ENSG00000204296:ENST00000533191:exon16:c.C434T:p.P145L Score=432;Name=lod=76 NA 6p21.32 NA NA NA NA rs1003878 0.21 0.21 0.238 0.226837 0.2058 0.1349 0.1455 0.3094 0.2894 0.2 0.13 0.16 0.37 0.2027 0.37 0.53 T . . . . . . 0.195 P 0.55 N 3.65 T -0.876 T 0.004 T 0.488 -0.466 1.845 3.1 1.238 3.419 9.153 -0.466421 NA 1 0.224252 0.291529 NA 0.275 NA 9.5339147 707 9 71628207 71628207 G C exonic PRKACG NA nonsynonymous SNV PRKACG:NM_002732:exon1:c.C802G:p.H268D exonic ENSG00000165059 NA nonsynonymous SNV ENSG00000165059:ENST00000377276:exon1:c.C802G:p.H268D Score=653;Name=lod=599 NA 9q21.11 NA NA Name=3 NA rs3730386 0.27 0.27 0.281 0.321286 0.2684 0.3145 0.1772 0.3752 0.4121 0.25 0.28 0.19 0.36 0.2752 0.36 1 T 0.0 B 0.0 B . . 1.000 P -2.415 N 3.49 T -0.931 T 0.000 T 0.091 -1.094 0.149 1.62 0.027 2.604 7.527 -1.093767 NA 1 0.256163 0.362233 NA 0.377 NA 9.5335704 707 1 169511555 169511555 T C exonic F5 NA nonsynonymous SNV F5:NM_000130:exon13:c.A2773G:p.K925E exonic ENSG00000198734 NA nonsynonymous SNV ENSG00000198734:ENST00000367796:exon13:c.A2788G:p.K930E,ENSG00000198734:ENST00000367797:exon13:c.A2773G:p.K925E NA NA 1q24.2 NA NA NA NA rs6032 0.24 0.24 0.205 0.26278 0.2535 0.248 0.3948 0.1679 0.3221 0.25 0.2 0.36 0.2 0.2737 0.36 1 T 0.0 B 0.001 B 0.884 N 1.000 P 0.14 N 2.24 T -0.903 T 0.006 T 0.03 -0.407 2.099 -5.14 -1.326 -0.987 17.350 -0.406537 NA 1 0.273837 0.184294 NA 0.333 NA 9.5322964 707 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 707 7 31683410 31683410 G A exonic CCDC129 NA nonsynonymous SNV CCDC129:NM_194300:exon10:c.G2426A:p.C809Y,CCDC129:NM_001257968:exon11:c.G2504A:p.C835Y,CCDC129:NM_001257967:exon12:c.G2456A:p.C819Y exonic ENSG00000180347 NA nonsynonymous SNV ENSG00000180347:ENST00000409210:exon9:c.G2150A:p.C717Y,ENSG00000180347:ENST00000319386:exon11:c.G1982A:p.C661Y,ENSG00000180347:ENST00000407970:exon11:c.G2426A:p.C809Y,ENSG00000180347:ENST00000451887:exon11:c.G2504A:p.C835Y NA NA 7p14.3 Score=887;Name=V$TGIF_01 NA NA NA rs10247620 0.79 0.79 0.783 0.76278 0.7475 0.8115 0.7882 0.6914 0.8067 0.75 0.89 0.81 0.73 0.7796 0.89 1 T 0.96 D 0.605 P 0.046 N 1.000 P 1.3 L 1.46 T -0.929 T 0.000 T 0.187 1.391 10.58 4.07 0.826 1.758 9.191 1.391104 1.391104 0.93 0.776744 0.707898 NA 0.667 NA 9.5294894 707 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 707 20 60900481 60900481 A G exonic LAMA5 NA nonsynonymous SNV LAMA5:NM_005560:exon41:c.T5420C:p.F1807S exonic ENSG00000130702 NA nonsynonymous SNV ENSG00000130702:ENST00000252999:exon41:c.T5420C:p.F1807S Score=391;Name=lod=52 NA 20q13.33 NA Name=Pol2 NA NA rs2427284 0.92 0.92 0.908 0.89397 0.9364 0.9802 0.9568 0.8169 0.8211 0.93 0.98 0.95 0.82 0.9185 0.98 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.855 N 1.44 T -0.950 T 0.000 T 0.055 -0.473 1.819 4.84 1.033 4.754 13.335 -0.472758 NA 1 0.950454 0.847569 NA 0.833 NA 9.5279794 707 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 708 17 7722365 7722365 C T exonic DNAH2 NA nonsynonymous SNV DNAH2:NM_020877:exon70:c.C10799T:p.T3600I exonic ENSG00000183914 NA nonsynonymous SNV ENSG00000183914:ENST00000575105:exon12:c.C1646T:p.T549I,ENSG00000183914:ENST00000389173:exon70:c.C10799T:p.T3600I,ENSG00000183914:ENST00000572933:exon71:c.C10799T:p.T3600I Score=397;Name=lod=55 NA 17p13.1 Score=767;Name=V$SEF1_C NA NA NA rs7213894 0.59 0.59 0.623 0.611022 0.6064 0.3522 0.5418 0.7905 0.6892 0.62 0.38 0.59 0.78 0.6059 0.78 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.685 N 1.87 T -0.947 T 0.000 T 0.481 -1.459 0.019 4.07 0.616 5.350 7.346 -1.45914 NA 1 0.597791 0.751475 NA 0.623 NA 9.5232424 708 3 151545601 151545601 G A exonic AADAC NA nonsynonymous SNV AADAC:NM_001086:exon5:c.G841A:p.V281I exonic ENSG00000114771 NA nonsynonymous SNV ENSG00000114771:ENST00000232892:exon5:c.G841A:p.V281I Score=446;Name=lod=87 NA 3q25.1 NA NA NA NA rs1803155 0.71 0.71 0.724 0.734425 0.7674 0.5774 0.7522 0.7731 0.7975 0.77 0.56 0.72 0.77 0.7582 0.79 0.21 T 0.721 P 0.242 B 0.000 N 0.000 P 1.885 L 0.35 T -1.038 T 0.000 T 0.066 3.184 16.66 3.94 1.006 3.772 12.925 3.183921 3.183921 0.06 0.785249 0.764185 NA 0.696 NA 9.5224844 708 22 46931077 46931077 G C exonic CELSR1 NA nonsynonymous SNV CELSR1:NM_014246:exon1:c.C1991G:p.S664W exonic ENSG00000075275 NA nonsynonymous SNV ENSG00000075275:ENST00000262738:exon1:c.C1991G:p.S664W,ENSG00000075275:ENST00000395964:exon1:c.C1991G:p.S664W NA NA 22q13.31 Score=822;Name=V$PAX4_01 NA NA NA rs4823850 0.9 0.9 0.89 0.888978 0.9533 0.9772 0.9366 0.7254 0.9192 0.95 0.97 0.93 0.74 0.9222 0.97 0.07 T 0.999 D 0.935 D 0.278 U 0.984 P 2.565 M 3.86 T -0.997 T 0.000 T 0.328 2.06 12.84 3.47 0.860 0.617 2.244 2.059552 2.059552 0.01 0.935431 0.73233 NA 0.819 NA 9.5224024 708 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 708 6 46803102 46803102 A G exonic MEP1A NA nonsynonymous SNV MEP1A:NM_005588:exon13:c.A1900G:p.M634V exonic ENSG00000112818 NA nonsynonymous SNV ENSG00000112818:ENST00000230588:exon13:c.A1900G:p.M634V NA NA 6p12.3 NA NA NA NA rs2297019 0.34 0.34 0.328 0.339657 0.2515 0.2688 0.3069 0.4818 0.3344 0.27 0.29 0.3 0.53 0.3112 0.53 1 T 0.0 B 0.0 B 0.001 N 1.000 P -0.14 N 1.98 T -1.032 T 0.004 T 0.028 -0.53 1.588 -6.73 -1.344 -3.022 0.982 -0.529944 NA 1 0.250233 0.440763 NA 0.333 NA 9.5204004 708 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 708 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 708 2 27730940 27730940 T C exonic GCKR NA nonsynonymous SNV GCKR:NM_001486:exon15:c.T1337C:p.L446P exonic ENSG00000084734 NA nonsynonymous SNV ENSG00000084734:ENST00000424318:exon14:c.T767C:p.L256P,ENSG00000084734:ENST00000264717:exon15:c.T1337C:p.L446P Score=383;Name=lod=48 Name=Liver enzyme levels (gamma-glutamyl transferase),Cholesterol, total,C-reactive protein,Cardiovascular disease risk factors,Serum total protein level,Metabolite levels,Triglycerides,Hypertriglyceridemia,Metabolic traits,Urate levels,Non-albumin protein levels,Two-hour glucose challenge,Lipoprotein-associated phospholipase A2 activity and mass,Chronic kidney disease,Lipid metabolism phenotypes,Serum albumin level,Platelet counts,Waist circumference and related phenotypes 2p23.3 NA NA NA NA rs1260326 0.62 0.62 0.61 0.706669 0.5895 0.5188 0.6383 0.9062 0.7996 0.59 0.44 0.59 0.88 0.6429 0.88 1 T 0.0 B 0.0 B 0.077 N 0.267 P . . 2.31 T -1.049 T 0.000 T 0.368 -2.287 0.004 2.95 0.409 0.075 6.324 -2.287046 NA 0.6 0.58314 0.857013 NA 0.717 CLINSIG=other;CLNDBN=Fasting_plasma_glucose_level_quantitative_trait_locus_5;CLNREVSTAT=single;CLNACC=RCV000009294.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3150714:613463 9.5177934 708 6 161152240 161152240 G A exonic PLG NA nonsynonymous SNV PLG:NM_000301:exon11:c.G1414A:p.D472N exonic ENSG00000122194 NA nonsynonymous SNV ENSG00000122194:ENST00000308192:exon11:c.G1414A:p.D472N NA NA 6q26 NA Name=CTCF_(SC-5916),CTCF Name=12 NA rs4252125 0.16 0.16 0.145 0.139776 0.2962 NA 0.1787 0.152 0.0787 0.28 NA 0.2 0.14 0.2171 0.3 0.22 T 0.0 B 0.001 B 0.455 N 1.000 P 0 N 0.05 T -1.099 T 0.045 T 0.008 0.159 4.858 2.08 -0.295 0.058 8.318 0.159413 NA 0.56 0.302791 0.182478 NA 0.246 NA 9.5172424 708 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 708 15 80263406 80263406 C T exonic BCL2A1 NA nonsynonymous SNV BCL2A1:NM_001114735:exon1:c.G56A:p.C19Y,BCL2A1:NM_004049:exon1:c.G56A:p.C19Y exonic ENSG00000140379 NA nonsynonymous SNV ENSG00000140379:ENST00000267953:exon1:c.G56A:p.C19Y,ENSG00000140379:ENST00000335661:exon1:c.G56A:p.C19Y NA NA 15q25.1 NA Name=Pol2,TAF1,NFKB,Pol2-4H8,YY1_(C-20),Sin3Ak-20,PAX5-N19,GR Name=123 NA rs1138357 0.34 0.34 0.326 0.352037 0.2565 0.5367 0.2767 0.2572 0.4417 0.25 0.54 0.32 0.23 0.3033 0.54 1 T 0.0 B 0.0 B 0.835 N 1.000 P -1.67 N 2.33 T -0.919 T 0.000 T 0.03 -1.282 0.042 1.93 -0.156 1.334 4.114 -1.282248 NA 0.51 0.256977 0.241262 NA 0.326 NA 9.5165564 708 1 175375469 175375469 C A exonic TNR NA nonsynonymous SNV TNR:NM_003285:exon3:c.G382T:p.A128S exonic ENSG00000116147 NA nonsynonymous SNV ENSG00000116147:ENST00000367674:exon3:c.G382T:p.A128S,ENSG00000116147:ENST00000263525:exon4:c.G382T:p.A128S NA NA 1q25.1 Score=682;Name=V$P53_01 NA NA NA rs2239819 0.3 0.3 0.286 0.287141 0.2525 0.5179 0.3617 0.0885 0.3006 0.25 0.53 0.33 0.1 0.2933 0.53 0.34 T 0.01 B 0.007 B 0.000 N 1.000 P 0.55 N 1.34 T -0.952 T 0.000 T 0.168 -0.424 2.025 2.0 0.577 3.195 8.009 -0.423785 NA 0.06 0.271047 0.132093 NA 0.377 NA 9.5164864 708 7 73969541 73969541 A G exonic GTF2IRD1 NA nonsynonymous SNV GTF2IRD1:NM_001199207:exon18:c.A2050G:p.M684V,GTF2IRD1:NM_005685:exon18:c.A1954G:p.M652V,GTF2IRD1:NM_016328:exon18:c.A1954G:p.M652V exonic ENSG00000006704 NA nonsynonymous SNV ENSG00000006704:ENST00000265755:exon18:c.A1954G:p.M652V,ENSG00000006704:ENST00000424337:exon18:c.A1954G:p.M652V,ENSG00000006704:ENST00000455841:exon18:c.A2050G:p.M684V,ENSG00000006704:ENST00000476977:exon18:c.A1954G:p.M652V NA NA 7q11.23 NA NA NA NA rs2301895 0.42 0.42 0.404 0.414537 0.2465 0.5129 0.3386 0.6354 0.2413 0.24 0.53 0.33 0.62 0.3078 0.62 0.54 T 0.0 B 0.001 B 0.502 N 1.000 P 0 N 1.7 T -0.937 T 0.000 T 0.183 -2.436 0.003 -3.69 -1.273 -0.981 1.440 -2.43645 NA 1 0.262907 0.587608 NA 0.37 NA 9.5161264 709 4 4304522 4304522 A C exonic ZBTB49 NA nonsynonymous SNV ZBTB49:NM_145291:exon3:c.A959C:p.Y320S exonic ENSG00000168826 NA nonsynonymous SNV ENSG00000168826:ENST00000337872:exon3:c.A959C:p.Y320S,ENSG00000168826:ENST00000355834:exon3:c.A959C:p.Y320S,ENSG00000168826:ENST00000515012:exon3:c.A959C:p.Y320S NA NA 4p16.3 NA NA Name=9 NA rs2920217 0.22 0.22 0.18 0.202676 0.2694 0.247 0.2896 0.1036 0.1605 0.27 0.22 0.28 0.1 0.2635 0.29 0.48 T 0.0 B 0.0 B 0.931 N 1.000 P -2.125 N 3.06 T -0.932 T 0.000 T 0.234 0.683 7.651 -2.97 -1.381 0.668 4.785 0.682838 NA 0.45 0.286279 0.168634 NA 0.152 NA 9.5141544 709 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 709 6 53883843 53883843 G A exonic MLIP NA nonsynonymous SNV MLIP:NM_138569:exon1:c.G17A:p.R6H exonic ENSG00000146147 NA nonsynonymous SNV ENSG00000146147:ENST00000274897:exon1:c.G17A:p.R6H,ENSG00000146147:ENST00000370877:exon1:c.G17A:p.R6H,ENSG00000146147:ENST00000509997:exon1:c.G17A:p.R6H,ENSG00000146147:ENST00000514921:exon1:c.G17A:p.R6H Score=441;Name=lod=83 NA 6p12.1 NA NA NA NA rs17625497 0.21 0.21 0.18 0.197085 0.2853 0.0575 0.3991 0.1702 0.1431 0.28 0.07 0.39 0.15 0.2531 0.39 1 T 0.0 B 0.0 B 0.811 N 0.000 P -1.5 N 2.21 T -0.941 T 0.005 T 0.075 0.121 4.65 3.46 0.454 3.751 7.522 0.120805 NA 1 0.281163 0.182478 NA 0.174 NA 9.5137704 709 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 709 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 709 15 77407114 77407114 C G exonic PEAK1 NA nonsynonymous SNV PEAK1:NM_024776:exon8:c.G4625C:p.S1542T exonic ENSG00000173517 NA nonsynonymous SNV ENSG00000173517:ENST00000312493:exon5:c.G4625C:p.S1542T,ENSG00000173517:ENST00000560626:exon7:c.G4625C:p.S1542T Score=304;Name=lod=23 NA 15q24.3 NA NA NA NA rs1867780 0.22 0.22 0.212 0.197484 0.2873 0.2153 0.2536 0.0696 0.2198 0.29 0.23 0.25 0.08 0.2491 0.29 0.41 T 0.003 B 0.005 B 0.318 U 0.000 P 0 N -0.33 T -1.034 T 0.000 T 0.069 1.068 9.359 3.49 0.596 1.665 7.182 1.067504 NA 0.46 0.285437 0.109359 NA 0.261 NA 9.5114964 709 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 709 22 46929692 46929692 A G exonic CELSR1 NA nonsynonymous SNV CELSR1:NM_014246:exon1:c.T3376C:p.C1126R exonic ENSG00000075275 NA nonsynonymous SNV ENSG00000075275:ENST00000262738:exon1:c.T3376C:p.C1126R,ENSG00000075275:ENST00000395964:exon1:c.T3376C:p.C1126R Score=510;Name=lod=158 NA 22q13.31 Score=785;Name=V$COMP1_01 Name=CTCF NA NA rs4823561 0.96 0.96 0.944 0.952875 0.9523 0.9772 0.9625 0.9546 0.9192 0.95 0.97 0.96 0.95 0.9406 0.97 1 T 0.0 B 0.0 B 0.003 N 0.045 P -2 N 1.3 T -0.971 T 0.000 T 0.415 -1.785 0.01 4.53 0.911 2.055 6.436 -1.784831 NA 1 0.933488 0.934408 NA 0.913 NA 9.5069454 709 17 74076415 74076415 G A exonic ZACN NA nonsynonymous SNV ZACN:NM_180990:exon5:c.G454A:p.A152T exonic ENSG00000186919 NA nonsynonymous SNV ENSG00000186919:ENST00000334586:exon5:c.G454A:p.A152T,ENSG00000186919:ENST00000425015:exon5:c.G454A:p.A152T Score=265;Name=lod=16 NA 17q25.1 NA Name=Pol2 Name=17 NA rs2257020 0.57 0.57 0.584 0.605032 0.6173 0.5188 0.4856 0.6384 0.7209 0.62 0.47 0.49 0.66 0.6008 0.66 0.32 T 0.0 B 0.0 B 0.001 N 0.000 P -2.14 N -1.12 T -0.915 T 0.000 T 0.049 1.521 11.04 4.6 0.804 0.920 8.089 1.521398 1.521398 0.64 0.608488 0.627326 NA 0.464 NA 9.5067454 710 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 710 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 710 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 710 14 100380948 100380948 T C exonic EML1 NA nonsynonymous SNV EML1:NM_004434:exon15:c.T1666C:p.S556P,EML1:NM_001008707:exon16:c.T1723C:p.S575P exonic ENSG00000066629 NA nonsynonymous SNV ENSG00000066629:ENST00000262233:exon15:c.T1666C:p.S556P,ENSG00000066629:ENST00000327921:exon16:c.T1630C:p.S544P,ENSG00000066629:ENST00000334192:exon16:c.T1723C:p.S575P Score=570;Name=lod=277 NA 14q32.2 NA NA NA NA rs2250718 0.66 0.66 0.694 0.664137 0.5795 0.5923 0.621 0.9259 0.502 0.59 0.55 0.63 0.93 0.6313 0.93 0.57 T 0.0 B 0.0 B 0.000 N 1.000 P -0.275 N 1.0 T -0.994 T 0.000 T 0.356 1.007 9.114 3.02 1.182 3.102 8.790 1.007337 NA 0.73 0.619535 0.869723 NA 0.812 NA 9.5029984 710 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=Alcohol dependence,Upper aerodigestive tract cancers,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 710 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 710 3 33138549 33138549 G A exonic GLB1 NA nonsynonymous SNV GLB1:NM_000404:exon1:c.C29T:p.P10L,GLB1:NM_001135602:exon1:c.C29T:p.P10L exonic ENSG00000170266 NA nonsynonymous SNV ENSG00000170266:ENST00000307363:exon1:c.C29T:p.P10L,ENSG00000170266:ENST00000307377:exon1:c.C29T:p.P10L,ENSG00000170266:ENST00000415454:exon1:c.C29T:p.P10L,ENSG00000170266:ENST00000436768:exon1:c.C29T:p.P10L,ENSG00000170266:ENST00000438227:exon1:c.C29T:p.P10L,ENSG00000170266:ENST00000445488:exon1:c.C29T:p.P10L NA NA 3p22.3 NA Name=GTF2F1_(RAP-74),TBP,Sin3Ak-20,NRSF,TFIIIC-110,HEY1,ELF1_(SC-631),GATA-1,TAF1,Pol2-4H8,Pol2 Name=147 NA rs7637099 0.47 0.47 0.476 0.431909 0.6461 0.4891 0.572 0.0711 0.5409 0.63 0.48 0.62 0.1 0.5625 0.63 0.65 T 0.0 B 0.0 B 0.040 N 1.000 P 0 N -4.21 D -0.791 T 0.000 T 0.247 1.483 10.9 -0.128 -0.158 0.197 4.872 1.482603 1.482603 0.15 0.623601 0.16009 NA NA CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078711.3;CLNDSDB=.;CLNDSDBID=. 9.5011324 710 19 17397244 17397244 C T exonic ANKLE1 NA synonymous SNV ANKLE1:NM_152363:exon9:c.C1731T:p.G577G exonic ENSG00000160117 NA nonsynonymous SNV ENSG00000160117:ENST00000598347:exon8:c.C1514T:p.A505V Score=352;Name=lod=36 NA 19p13.11 NA NA NA NA rs10425939 0.1 0.1 0.123 0.0986422 0.163 0.001 0.0908 0.1354 0.089 0.16 0.0017 0.1 0.12 0.1523 0.18 0.03 D 0.19 B 0.039 B . . 0.000 P . . . . -1.077 T 0.000 T . 1.262 10.12 2.04 0.227 0.390 4.663 1.261737 1.261737 0 0.183966 0.145095 NA 0.13 NA 9.500734 710 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 710 14 36789729 36789729 T G exonic MBIP NA nonsynonymous SNV MBIP:NM_001144891:exon1:c.A66C:p.R22S,MBIP:NM_016586:exon1:c.A66C:p.R22S exonic ENSG00000151332 NA nonsynonymous SNV ENSG00000151332:ENST00000318473:exon1:c.A66C:p.R22S,ENSG00000151332:ENST00000359527:exon1:c.A66C:p.R22S,ENSG00000151332:ENST00000416007:exon1:c.A66C:p.R22S,ENSG00000151332:ENST00000603139:exon1:c.A66C:p.R22S,ENSG00000151332:ENST00000604336:exon1:c.A66C:p.R22S Score=355;Name=lod=37 NA 14q13.3 NA Name=TBP,YY1,YY1_(C-20),TAF1,Pol2-4H8,HEY1,Pol2,CHD2_(N-1250) NA NA rs3168891 0.93 0.93 0.918 0.926917 0.9394 0.9554 0.9395 0.8759 0.9448 0.94 0.95 0.92 0.89 0.947 0.95 1 T 0.0 B 0.0 B 0.003 N 0.996 P -1.245 N 1.72 T -0.990 T 0.000 T 0.331 -0.207 2.996 5.05 1.509 1.517 12.515 -0.207102 NA 1 0.949651 0.870858 ID=COSM1600069;OCCURENCE=1(central_nervous_system) 0.928 NA 9.4972824 710 3 46501268 46501268 C T exonic LTF NA nonsynonymous SNV LTF:NM_002343:exon2:c.G85A:p.A29T exonic ENSG00000012223 NA nonsynonymous SNV ENSG00000012223:ENST00000231751:exon2:c.G85A:p.A29T,ENSG00000012223:ENST00000417439:exon2:c.G85A:p.A29T,ENSG00000012223:ENST00000431944:exon3:c.G118A:p.A40T,ENSG00000012223:ENST00000443496:exon5:c.G46A:p.A16T NA NA 3p21.31 NA NA NA NA rs1126477 0.43 0.43 0.413 0.469649 0.2614 0.4167 0.4207 0.7693 0.3681 0.26 0.4 0.41 0.74 0.3331 0.74 1 T 0.017 B 0.01 B 0.265 N 1.000 P -0.145 N 2.51 T -0.982 T 0.000 T 0.095 -0.941 0.357 -3.58 -1.497 -1.679 12.804 -0.94143 NA 1 0.243605 0.695869 NA 0.37 NA 9.4952284 710 2 226491770 226491770 A C exonic NYAP2 NA nonsynonymous SNV NYAP2:NM_020864:exon5:c.A1756C:p.T586P exonic ENSG00000144460 NA nonsynonymous SNV ENSG00000144460:ENST00000409269:exon2:c.A359C:p.D120A,ENSG00000144460:ENST00000272907:exon5:c.A1756C:p.T586P Score=570;Name=lod=277 NA 2q36.3 Score=927;Name=V$LMO2COM_01 Name=CTCF,PU.1 NA NA rs3748993 0.94 0.94 0.942 0.933307 0.9503 0.8482 0.9798 0.9924 0.8906 0.95 0.85 0.98 0.99 0.9377 0.99 1 T 0.0 B 0.0 B 0.000 N 0.999 P -1.04 N 1.56 T -0.964 T 0.000 T 0.042 1.654 11.49 3.9 0.769 1.126 6.550 1.654462 1.654462 1 0.95029 0.986653 NA 0.935 NA 9.4950434 711 16 81249954 81249954 T A exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon2:c.A359T:p.Q120L exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000337114:exon2:c.A359T:p.Q120L,ENSG00000269323:ENST00000599697:exon2:c.A359T:p.Q120L NA NA 16q23.2 Score=943;Name=V$P53_02 NA NA NA rs7191351 0.52 0.52 0.51 0.469449 0.6541 0.4425 0.5519 0.351 0.409 0.65 0.41 0.62 0.36 0.5513 0.65 0 D 0.763 P 0.463 P 0.088 N 1.000 P . . 2.1 T -0.995 T 0.000 T 0.442 2.245 13.46 1.37 0.292 1.173 7.888 2.245031 2.245031 0 0.633445 0.457577 NA 0.464 NA 9.4944884 711 10 134598628 134598628 A G exonic NKX6-2 NA nonsynonymous SNV NKX6-2:NM_177400:exon3:c.T626C:p.V209A exonic ENSG00000148826 NA nonsynonymous SNV ENSG00000148826:ENST00000368592:exon3:c.T626C:p.V209A Score=744;Name=lod=1402 NA 10q26.3 Score=919;Name=V$NMYC_01 Name=SUZ12 NA NA rs2804003 0.97 0.97 0.953 0.97524 0.9453 1 0.9654 0.9985 0.956 0.94 1 0.96 1 0.9581 1 1 T 0.0 B 0.0 B 0.000 N 0.999 P -0.865 N 0.52 T -0.936 T 0.000 T 0.124 0.462 6.51 2.89 0.771 4.855 10.839 0.462332 NA 1 0.937616 0.991568 NA 0.652 NA 9.4923174 711 1 53732315 53732315 G T exonic LRP8 NA synonymous SNV LRP8:NM_033300:exon7:c.C747A:p.G249G,LRP8:NM_017522:exon8:c.C870A:p.G290G,LRP8:NM_001018054:exon9:c.C1257A:p.G419G,LRP8:NM_004631:exon9:c.C1257A:p.G419G exonic ENSG00000157193 NA synonymous SNV ENSG00000157193:ENST00000347547:exon7:c.C747A:p.G249G,ENSG00000157193:ENST00000354412:exon8:c.C870A:p.G290G,ENSG00000157193:ENST00000306052:exon9:c.C1257A:p.G419G,ENSG00000157193:ENST00000371454:exon9:c.C1257A:p.G419G Score=431;Name=lod=75 NA 1p32.3 NA NA NA NA rs2297660 0.4 0.4 0.417 0.335264 0.3956 0.6319 0.2824 0.2042 0.182 0.39 0.65 0.26 0.23 0.3798 0.65 . . . . . . . . 0.000 P . . . . -0.897 T 0.000 T . 1.039 9.243 4.91 2.550 1.007 7.755 1.038713 NA NA 0.401279 0.227871 NA 0.442 NA 9.4899876 711 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 711 1 28800380 28800380 C A exonic PHACTR4 NA nonsynonymous SNV PHACTR4:NM_023923:exon6:c.C1168A:p.L390I,PHACTR4:NM_001048183:exon7:c.C1138A:p.L380I exonic ENSG00000204138 NA nonsynonymous SNV ENSG00000204138:ENST00000373836:exon6:c.C1168A:p.L390I,ENSG00000204138:ENST00000373839:exon7:c.C1138A:p.L380I Score=284;Name=lod=19 NA 1p35.3 NA NA NA NA rs61785974 0.26 0.26 0.244 0.22504 0.3111 0.0704 0.2666 0.3048 0.1585 0.31 0.09 0.28 0.34 0.2633 0.34 0.45 T 0.328 B 0.085 B 0.795 N 0.954 P 1.7 L 1.84 T -0.948 T 0.000 T 0.037 0.27 5.46 3.3 0.731 1.307 5.478 0.270018 NA 0.22 0.271588 0.305836 NA 0.283 NA 9.4873454 711 19 9072742 9072742 T C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A14704G:p.I4902V exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A14704G:p.I4902V NA NA 19p13.2 NA NA NA NA rs2591590 0.22 0.22 0.209 0.210463 0.3101 0.249 0.2046 0.0628 0.272 0.31 0.21 0.24 0.1 0.2525 0.31 0 D 0.078 B 0.138 B . . . . 0 N 4.38 T -0.912 T 0.000 T 0.076 1.416 10.67 2.18 1.268 0.373 6.347 1.416022 1.416022 0.89 0.285647 0.101525 ID=COSM148488,COSM148489,COSM148490;OCCURENCE=1(stomach) 0.188 NA 9.4850864 712 1 111891192 111891192 C A exonic PIFO NA nonsynonymous SNV PIFO:NM_181643:exon4:c.C313A:p.H105N exonic ENSG00000173947 NA nonsynonymous SNV ENSG00000173947:ENST00000369737:exon3:c.C214A:p.H72N,ENSG00000173947:ENST00000369738:exon4:c.C313A:p.H105N NA NA 1p13.2 Score=852;Name=V$FAC1_01 NA NA NA rs2184884 0.08 0.08 0.069 0.0824681 0.1193 NA 0.0793 0.1082 0.0971 0.13 NA 0.09 0.1 0.1037 0.13 0.28 T 0.763 P 0.288 B 0.775 N 1.000 P 2.14 M 1.95 T -1.030 T 0.027 T 0.062 1.212 9.92 -1.47 -0.124 -0.888 0.338 1.211873 NA 0.13 0.125814 0.111893 NA 0.058 NA 9.4845194 712 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 712 19 9049149 9049149 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon5:c.C32482T:p.P10828S exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon5:c.C32482T:p.P10828S NA NA 19p13.2 NA NA NA NA rs12461007 0.2 0.2 0.192 0.199081 0.2813 0.0258 0.2695 0.1982 0.2444 0.29 0.02 0.26 0.21 0.2657 0.3 0 D 0.041 B 0.014 B . . . . 0 N 4.04 T -0.882 T 0.000 T 0.053 0.239 5.293 -5.99 -1.512 -0.091 6.055 0.239478 NA 0.65 0.302983 0.190743 NA 0.268 NA 9.4833504 712 19 9065632 9065632 T C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A21814G:p.I7272V exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A21814G:p.I7272V NA NA 19p13.2 NA NA NA NA rs1867691 0.23 0.23 0.214 0.215855 0.3111 0.249 0.2061 0.0802 0.274 0.31 0.21 0.24 0.11 0.2534 0.31 0 D 0.001 B 0.004 B . . . . 0.345 N 4.38 T -0.909 T 0.000 T 0.028 -0.258 2.759 -2.74 -1.196 -0.502 0.917 -0.258393 NA 0.35 0.285766 0.11772 NA 0.196 NA 9.4830674 712 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 712 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 712 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 traits,Electrocardiographic conduction measures 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 712 19 9072313 9072313 A G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.T15133C:p.S5045P exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.T15133C:p.S5045P NA NA 19p13.2 NA NA NA NA rs2121133 0.22 0.22 0.202 0.210463 0.3101 0.249 0.2046 0.0628 0.272 0.31 0.21 0.24 0.1 0.2527 0.31 0 D 0.002 B 0.001 B . . . . 1.245 L 1.58 T -0.957 T 0.000 T 0.032 0.175 4.94 -3.18 -1.081 0.008 3.207 0.174556 NA 0 0.288452 0.102663 NA 0.188 NA 9.4820814 712 8 8176554 8176554 C T exonic SGK223 NA nonsynonymous SNV SGK223:NM_001080826:exon5:c.G3331A:p.A1111T exonic ENSG00000182319 NA nonsynonymous SNV ENSG00000182319:ENST00000330777:exon5:c.G3331A:p.A1111T,ENSG00000182319:ENST00000520004:exon6:c.G3331A:p.A1111T NA NA 8p23.1 NA Name=CTCF,SMC3_(ab9263),ZNF263 Name=4 NA rs12549973 0.32 0.32 0.302 0.298722 0.2505 0.5446 0.3429 0.0825 0.3558 0.25 0.6 0.27 0.12 0.3235 0.6 0.47 T 0.164 B 0.09 B 0.490 N 1.000 P 1.1 L -0.17 T -0.917 T 0.000 T 0.127 2.145 13.13 3.53 0.661 0.043 10.124 2.145121 2.145121 0.24 0.277606 0.114639 NA 0.123 NA 9.4817274 712 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$AHRARNT_02 Name=GATA-2 Name=7 NA rs2271477 0.08 0.08 0.08 0.0810703 0.0696 0.128 0.121 0.0219 0.0961 0.07 0.15 0.1 0.02 0.0649 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.838588 NA NA 0.05093 0.026555 NA 0.065 NA 9.4812366 712 17 10223714 10223714 T C exonic MYH13 NA nonsynonymous SNV MYH13:NM_003802:exon25:c.A3211G:p.M1071V exonic ENSG00000006788 NA nonsynonymous SNV ENSG00000006788:ENST00000418404:exon24:c.A3211G:p.M1071V,ENSG00000006788:ENST00000252172:exon25:c.A3211G:p.M1071V,ENSG00000006788:ENST00000570743:exon25:c.A3211G:p.M1071V Score=646;Name=lod=563 NA 17p13.1 NA NA NA NA rs2074877 0.58 0.58 0.59 0.544928 0.6223 0.4087 0.6628 0.6392 0.3947 0.64 0.41 0.67 0.63 0.6006 0.67 0.2 T 0.0 B 0.002 B . . 0.909 P 2.82 M -1.61 D -0.937 T 0.000 T 0.165 2.369 13.88 1.34 0.125 1.679 6.008 2.368847 2.368847 0.22 0.629824 0.64791 NA 0.667 NA 9.4806094 712 1 86939130 86939130 C T exonic CLCA1 NA nonsynonymous SNV CLCA1:NM_001285:exon2:c.C193T:p.L65F exonic ENSG00000016490 NA nonsynonymous SNV ENSG00000016490:ENST00000394711:exon2:c.C193T:p.L65F,ENSG00000016490:ENST00000234701:exon3:c.C193T:p.L65F Score=542;Name=lod=212 NA 1p22.3 Score=738;Name=V$MEF2_04 NA NA NA rs2145412 0.9 0.9 0.904 0.882188 0.9513 0.9871 0.9308 0.6725 0.9519 0.95 0.99 0.92 0.71 0.9404 0.99 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.92 N 3.16 T -0.922 T 0.001 T 0.227 -0.569 1.437 5.56 1.049 2.690 6.799 -0.568543 NA 1 0.962442 0.732183 NA 0.913 NA 9.4791914 712 9 17273731 17273731 A G exonic CNTLN NA nonsynonymous SNV CNTLN:NM_001114395:exon6:c.A850G:p.T284A,CNTLN:NM_017738:exon6:c.A850G:p.T284A exonic ENSG00000044459 NA nonsynonymous SNV ENSG00000044459:ENST00000262360:exon6:c.A850G:p.T284A,ENSG00000044459:ENST00000380641:exon6:c.A850G:p.T284A,ENSG00000044459:ENST00000380647:exon6:c.A850G:p.T284A,ENSG00000044459:ENST00000425824:exon6:c.A850G:p.T284A Score=355;Name=lod=37 NA 9p22.2 Score=817;Name=V$MEF2_03 NA NA NA rs3808795 0.28 0.28 0.301 0.334265 0.2853 0.3502 0.245 0.3298 0.4376 0.27 0.33 0.26 0.28 0.2989 0.37 . . 0.0 B 0.0 B . . 1.000 P -0.755 N 2.79 T -0.906 T 0.000 T 0.007 -0.519 1.629 2.17 0.456 0.744 5.281 -0.519449 NA 0.73 0.270746 0.31465 NA 0.348 NA 9.4783874 712 1 28209366 28209366 A G exonic THEMIS2 NA nonsynonymous SNV THEMIS2:NM_001105556:exon4:c.A1531G:p.K511E exonic ENSG00000130775 NA nonsynonymous SNV ENSG00000130775:ENST00000373921:exon4:c.A1531G:p.K511E,ENSG00000130775:ENST00000328928:exon5:c.A1144G:p.K382E Score=259;Name=lod=15 NA 1p35.3 NA NA NA NA rs3766400 0.45 0.45 0.406 0.450479 0.6322 0.501 0.5029 0.0711 0.6871 0.63 0.49 0.53 0.09 0.5829 0.64 0.29 T 0.0 B 0.0 B 0.000 N 0.000 P -2.2 N 2.66 T -0.933 T 0.000 T 0.306 -0.519 1.629 4.0 1.258 1.850 3.223 -0.519377 NA 1 0.641351 0.152547 NA 0.428 NA 9.4768824 712 8 98991221 98991221 A G exonic MATN2 NA nonsynonymous SNV MATN2:NM_002380:exon6:c.A1066G:p.K356E,MATN2:NM_030583:exon6:c.A1066G:p.K356E exonic ENSG00000132561 NA nonsynonymous SNV ENSG00000132561:ENST00000522270:exon2:c.A157G:p.K53E,ENSG00000132561:ENST00000519585:exon3:c.A214G:p.K72E,ENSG00000132561:ENST00000520016:exon5:c.A1066G:p.K356E,ENSG00000132561:ENST00000522025:exon5:c.A214G:p.K72E,ENSG00000132561:ENST00000254898:exon6:c.A1066G:p.K356E,ENSG00000132561:ENST00000521689:exon6:c.A1066G:p.K356E,ENSG00000132561:ENST00000524308:exon6:c.A1066G:p.K356E Score=417;Name=lod=66 NA 8q22.1 Score=823;Name=V$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 712 19 51919949 51919949 G A exonic LOC100129083,SIGLEC10 NA nonsynonymous SNV LOC100129083:NM_001256795:exon2:c.G281A:p.C94Y,SIGLEC10:NM_001171156:exon3:c.C503T:p.A168V,SIGLEC10:NM_001171157:exon3:c.C677T:p.A226V,SIGLEC10:NM_001171158:exon3:c.C533T:p.A178V,SIGLEC10:NM_001171159:exon3:c.C503T:p.A168V,SIGLEC10:NM_001171161:exon3:c.C503T:p.A168V,SIGLEC10:NM_033130:exon3:c.C677T:p.A226V exonic ENSG00000142512 NA nonsynonymous SNV ENSG00000142512:ENST00000529627:exon2:c.C119T:p.A40V,ENSG00000142512:ENST00000339313:exon3:c.C677T:p.A226V,ENSG00000142512:ENST00000353836:exon3:c.C677T:p.A226V,ENSG00000142512:ENST00000356298:exon3:c.C677T:p.A226V,ENSG00000142512:ENST00000436984:exon3:c.C533T:p.A178V,ENSG00000142512:ENST00000439889:exon3:c.C503T:p.A168V,ENSG00000142512:ENST00000441969:exon3:c.C503T:p.A168V,ENSG00000142512:ENST00000442846:exon3:c.C503T:p.A168V,ENSG00000142512:ENST00000525998:exon3:c.C677T:p.A226V NA NA 19q13.41 Score=840;Name=V$GR_Q6 NA NA NA rs9304711 0.26 0.26 0.254 0.270966 0.3012 0.006 0.2233 0.4841 0.2587 0.29 0.01 0.26 0.51 0.2664 0.51 0.57 T 0.345 B 0.163 B 0.038 N 1.000 P 0.85 L 4.05 T -0.952 T 0.000 T 0.347 2.542 14.46 3.65 0.961 0.645 8.684 2.541723 2.541723 0.34 0.289039 0.44394 NA 0.268 NA 9.4766944 712 22 36661330 36661330 G A exonic APOL1 NA nonsynonymous SNV APOL1:NM_001136541:exon5:c.G394A:p.E132K,APOL1:NM_001136540:exon6:c.G448A:p.E150K,APOL1:NM_003661:exon6:c.G448A:p.E150K,APOL1:NM_145343:exon7:c.G496A:p.E166K exonic ENSG00000100342 NA nonsynonymous SNV ENSG00000100342:ENST00000347595:exon3:c.G85A:p.E29K,ENSG00000100342:ENST00000426053:exon5:c.G394A:p.E132K,ENSG00000100342:ENST00000397278:exon6:c.G448A:p.E150K,ENSG00000100342:ENST00000397279:exon6:c.G448A:p.E150K,ENSG00000100342:ENST00000422706:exon6:c.G448A:p.E150K,ENSG00000100342:ENST00000427990:exon6:c.G448A:p.E150K,ENSG00000100342:ENST00000319136:exon7:c.G496A:p.E166K NA Name=Glomerulosclerosis 22q12.3 NA NA NA NA rs2239785 0.7 0.7 0.67 0.678115 0.7813 0.7956 0.8401 0.3064 0.8384 0.78 0.81 0.82 0.38 0.78 0.82 0.66 T 0.986 D 0.86 P 0.015 N 1.000 P 1.5 L 3.9 T -0.927 T 0.000 T 0.254 2.214 13.36 -2.18 -0.146 -0.987 3.810 2.214382 2.214382 0.69 0.795814 0.373808 NA 0.71 NA 9.4762194 713 19 43420451 43420451 G C exonic PSG6 NA nonsynonymous SNV PSG6:NM_001031850:exon2:c.C253G:p.H85D,PSG6:NM_002782:exon2:c.C253G:p.H85D exonic ENSG00000170848 NA nonsynonymous SNV ENSG00000170848:ENST00000187910:exon2:c.C253G:p.H85D,ENSG00000170848:ENST00000292125:exon2:c.C253G:p.H85D,ENSG00000170848:ENST00000402603:exon2:c.C253G:p.H85D,ENSG00000170848:ENST00000601833:exon2:c.C40G:p.H14D NA NA 19q13.31 NA NA NA NA rs3198831 0.39 0.39 0.366 0.453474 0.2525 0.4325 0.4265 0.5991 0.5041 0.26 0.4 0.36 0.6 0.3467 0.6 1 T 0.0 B 0.0 B . . 1.000 P -2.575 N -0.06 T -0.984 T 0.000 T 0.076 -2.167 0.005 -4.23 -1.078 -1.739 5.357 -2.167004 NA 1 0.259595 0.57542 NA 0.442 NA 9.4745384 713 4 159631991 159631991 G T exonic PPID NA nonsynonymous SNV PPID:NM_005038:exon8:c.C904A:p.L302I exonic ENSG00000171497 NA nonsynonymous SNV ENSG00000171497:ENST00000307720:exon8:c.C904A:p.L302I Score=534;Name=lod=197 NA 4q32.1 NA Name=CTCF NA NA rs9410 0.25 0.25 0.262 0.263379 0.2883 0.125 0.1412 0.3729 0.319 0.28 0.14 0.15 0.38 0.27 0.38 0.46 T 0.0 B 0.003 B 0.109 N 0.997 P 0.885 L -0.18 T -0.960 T 0.000 T 0.049 0.765 8.045 1.47 -0.053 1.265 9.251 0.764641 NA 1 0.300581 0.37693 NA 0.413 NA 9.4744524 713 8 108970367 108970367 A G exonic RSPO2 NA nonsynonymous SNV RSPO2:NM_178565:exon5:c.T557C:p.L186P exonic ENSG00000147655 NA nonsynonymous SNV ENSG00000147655:ENST00000378439:exon4:c.T365C:p.L122P,ENSG00000147655:ENST00000517781:exon4:c.T365C:p.L122P,ENSG00000147655:ENST00000517939:exon4:c.T356C:p.L119P,ENSG00000147655:ENST00000521502:exon4:c.T356C:p.L119P,ENSG00000147655:ENST00000276659:exon5:c.T557C:p.L186P Score=691;Name=lod=858 NA 8q23.1 NA NA NA NA rs601558 0.54 0.54 0.461 0.490216 0.6551 0.6885 0.598 0.0764 0.5992 0.65 0.69 0.63 0.12 0.5784 0.69 0.51 T 0.0 B 0.0 B 0.000 N 0.002 P -1.355 N -0.89 T -0.958 T 0.000 T 0.118 1.707 11.67 4.95 1.487 4.621 13.140 1.706977 1.706977 0.7 0.626163 0.173627 NA 0.413 NA 9.4736704 713 19 37117302 37117302 A G exonic ZNF382 NA nonsynonymous SNV ZNF382:NM_001256838:exon5:c.A500G:p.E167G,ZNF382:NM_032825:exon5:c.A503G:p.E168G exonic ENSG00000161298 NA nonsynonymous SNV ENSG00000161298:ENST00000590785:exon2:c.A356G:p.E119G,ENSG00000161298:ENST00000435416:exon3:c.A500G:p.E167G,ENSG00000161298:ENST00000423582:exon4:c.A356G:p.E119G,ENSG00000161298:ENST00000292928:exon5:c.A503G:p.E168G,ENSG00000161298:ENST00000439428:exon5:c.A500G:p.E167G Score=321;Name=lod=27 NA 19q13.12 NA NA NA NA rs3108171 0.7 0.7 0.704 0.678914 0.5994 0.8135 0.647 0.7466 0.5532 0.6 0.85 0.64 0.73 0.6474 0.85 1 T 0.103 B 0.117 B 0.013 N 0.783 P -1.37 N 3.54 T -0.984 T 0.000 T 0.212 -1.124 0.122 3.82 2.163 1.845 8.498 -1.124121 NA 1 0.615608 0.718991 NA 0.775 NA 9.4709254 713 5 78324352 78324352 A G exonic DMGDH NA nonsynonymous SNV DMGDH:NM_013391:exon12:c.T1936C:p.S646P exonic ENSG00000132837 NA nonsynonymous SNV ENSG00000132837:ENST00000540686:exon7:c.T796C:p.S266P,ENSG00000132837:ENST00000380311:exon9:c.T1333C:p.S445P,ENSG00000132837:ENST00000523732:exon9:c.T1453C:p.S485P,ENSG00000132837:ENST00000255189:exon12:c.T1936C:p.S646P NA NA 5q14.1 Score=844;Name=V$COUP_01 NA NA NA rs1805074 0.3 0.3 0.296 0.304113 0.2962 0.1399 0.1974 0.4917 0.3037 0.29 0.16 0.2 0.53 0.2798 0.53 0.27 T 0.011 B 0.023 B 0.150 N 0.999 P 0.95 L -1.65 D -0.951 T 0.000 T 0.081 1.798 11.97 2.11 0.121 0.087 1.547 1.798049 1.798049 0.07 0.286744 0.454607 NA 0.297 NA 9.4705894 713 11 63988102 63988102 C T exonic FERMT3 NA synonymous SNV FERMT3:NM_031471:exon12:c.C1506T:p.L502L,FERMT3:NM_178443:exon12:c.C1518T:p.L506L exonic ENSG00000149781 NA nonsynonymous SNV ENSG00000149781:ENST00000545896:exon1:c.C194T:p.S65L NA NA 11q13.1 NA NA NA NA rs3802933 0.18 0.18 0.165 0.162939 0.17 0.1756 0.3271 0.1278 0.0736 0.17 0.17 0.29 0.12 0.1899 0.29 . . . . . . . . 0.000 P . . 0.12 T -1.070 T 0.000 T . 0.206 5.113 -8.43 -2.298 -1.689 3.287 0.206446 NA NA 0.169774 0.136529 NA 0.13 NA 9.470326 713 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=Rad21,YY1_(C-20),CTCF,CTCF_(SC-5916) 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 713 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 713 4 3769500 3769500 C T exonic ADRA2C NA synonymous SNV ADRA2C:NM_000683:exon1:c.C1167T:p.G389G exonic ENSG00000184160 NA synonymous SNV ENSG00000184160:ENST00000330055:exon1:c.C1167T:p.G389G Score=727;Name=lod=1200 NA 4p16.3 Score=836;Name=V$AHRARNT_01 Name=CTCF,CTCF_(SC-5916),Rad21 Name=25 NA rs111546772 0.16 0.16 0.157 0.189696 0.0507 0.1389 0.0879 0.4349 0.1258 0.04 0.12 0.08 0.47 0.0931 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879493 NA NA 0.055116 0.373919 NA 0.159 NA 9.4677506 713 3 122003832 122003832 G C exonic CASR NA nonsynonymous SNV CASR:NM_000388:exon7:c.G3031C:p.E1011Q,CASR:NM_001178065:exon7:c.G3061C:p.E1021Q exonic ENSG00000036828 NA nonsynonymous SNV ENSG00000036828:ENST00000296154:exon6:c.G3031C:p.E1011Q,ENSG00000036828:ENST00000490131:exon7:c.G3031C:p.E1011Q,ENSG00000036828:ENST00000498619:exon7:c.G3061C:p.E1021Q Score=363;Name=lod=40 NA 3q21.1 NA NA NA NA rs1801726 0.92 0.92 0.923 0.924121 0.9632 0.9802 0.9813 0.7988 0.955 0.96 0.99 0.98 0.75 0.9446 0.99 1 T 0.0 B 0.0 B 0.000 N 1.000 P . . -2.35 D -0.937 T 0.000 T 0.06 -1.99 0.007 5.79 1.476 1.174 12.554 -1.990063 NA 1 0.959535 0.83636 NA 0.928 NA 9.4659984 714 2 48921375 48921375 T C exonic LHCGR NA nonsynonymous SNV LHCGR:NM_000233:exon10:c.A935G:p.N312S exonic ENSG00000138039 NA nonsynonymous SNV ENSG00000138039:ENST00000344775:exon9:c.A749G:p.N250S,ENSG00000138039:ENST00000294954:exon10:c.A935G:p.N312S,ENSG00000138039:ENST00000401907:exon10:c.A935G:p.N312S,ENSG00000138039:ENST00000403273:exon10:c.A935G:p.N312S Score=259;Name=lod=15 NA 2p16.3 NA NA Name=57 NA rs2293275 0.64 0.64 0.603 0.591054 0.6402 0.9276 0.6657 0.2352 0.6217 0.62 0.92 0.72 0.25 0.6376 0.92 . . 0.004 B 0.003 B 0.181 N 0.000 P 0.495 N -0.77 T -0.985 T 0.000 T 0.083 0.007 4.051 3.9 0.848 1.185 9.922 0.007198 NA 0.15 0.590687 0.297045 NA 0.514 NA 9.4648464 714 7 6621277 6621277 G A exonic ZDHHC4 NA nonsynonymous SNV ZDHHC4:NM_001134387:exon4:c.G157A:p.V53M,ZDHHC4:NM_001134389:exon4:c.G157A:p.V53M,ZDHHC4:NM_018106:exon4:c.G157A:p.V53M,ZDHHC4:NM_001134388:exon5:c.G157A:p.V53M exonic ENSG00000136247 NA nonsynonymous SNV ENSG00000136247:ENST00000335965:exon4:c.G157A:p.V53M,ENSG00000136247:ENST00000396706:exon4:c.G157A:p.V53M,ENSG00000136247:ENST00000396709:exon4:c.G157A:p.V53M,ENSG00000136247:ENST00000396713:exon4:c.G157A:p.V53M,ENSG00000136247:ENST00000405731:exon4:c.G157A:p.V53M,ENSG00000136247:ENST00000396707:exon5:c.G157A:p.V53M,ENSG00000136247:ENST00000483589:exon5:c.G157A:p.V53M NA NA 7p22.1 NA Name=PU.1 NA NA rs11559146 0.31 0.31 0.305 0.326078 0.2813 0.2351 0.3732 0.4418 0.2761 0.29 0.2 0.36 0.44 0.314 0.44 0.28 T 0.005 B 0.003 B 0.285 N 1.000 P -1.24 N 1.41 T -0.983 T 0.000 T 0.254 0.401 6.178 -8.12 -1.758 -0.776 14.569 0.400937 NA 0.32 0.273837 0.388334 NA 0.254 NA 9.4641964 714 5 41199959 41199959 G T exonic C6 NA nonsynonymous SNV C6:NM_000065:exon4:c.C356A:p.A119E,C6:NM_001115131:exon4:c.C356A:p.A119E exonic ENSG00000039537 NA nonsynonymous SNV ENSG00000039537:ENST00000263413:exon4:c.C356A:p.A119E,ENSG00000039537:ENST00000337836:exon4:c.C356A:p.A119E,ENSG00000039537:ENST00000417809:exon4:c.C356A:p.A119E Score=459;Name=lod=98 NA 5p13.1 NA NA NA NA rs1801033 0.56 0.56 0.571 0.553914 0.6451 0.4395 0.5519 0.5522 0.5818 0.65 0.44 0.6 0.55 0.5936 0.65 0.41 T 0.0 B 0.001 B 0.000 N 1.000 P -0.99 N 2.28 T -1.009 T 0.000 T 0.296 -0.414 2.068 6.02 1.101 2.551 12.774 -0.413665 NA 1 0.630814 0.564685 NA 0.514 NA 9.4638194 714 8 144996111 144996111 C T exonic PLEC NA synonymous SNV PLEC:NM_201378:exon32:c.G7836A:p.L2612L,PLEC:NM_201379:exon32:c.G7812A:p.L2604L,PLEC:NM_201380:exon32:c.G8289A:p.L2763L,PLEC:NM_201381:exon32:c.G7782A:p.L2594L,PLEC:NM_201382:exon32:c.G7878A:p.L2626L,PLEC:NM_201383:exon32:c.G7890A:p.L2630L,PLEC:NM_201384:exon32:c.G7878A:p.L2626L,PLEC:NM_000445:exon33:c.G7959A:p.L2653L exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon32:c.G8289A:p.L2763L,ENSG00000178209:ENST00000345136:exon32:c.G7878A:p.L2626L,ENSG00000178209:ENST00000354589:exon32:c.G7878A:p.L2626L,ENSG00000178209:ENST00000354958:exon32:c.G7812A:p.L2604L,ENSG00000178209:ENST00000356346:exon32:c.G7836A:p.L2612L,ENSG00000178209:ENST00000357649:exon32:c.G7890A:p.L2630L,ENSG00000178209:ENST00000398774:exon32:c.G7782A:p.L2594L,ENSG00000178209:ENST00000527096:exon32:c.G7947A:p.L2649L,ENSG00000178209:ENST00000436759:exon33:c.G7959A:p.L2653L Score=366;Name=lod=41 NA 8q24.3 NA NA NA NA rs34803322 0.05 0.05 0.044 0.0744808 0.0626 0.0456 0.147 0.0121 0.1493 0.07 0.03 0.12 0.01 0.0815 0.12 . . . . . . . . 0.000 P . . . . -1.051 T 0.003 T . -1.223 0.062 2.09 0.427 0.364 8.649 -1.222671 NA NA 0.058959 0.016082 NA 0.007 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078895.3;CLNDSDB=.;CLNDSDBID=. 9.4636076 714 9 113091523 113091523 T G exonic TXNDC8 NA nonsynonymous SNV TXNDC8:NM_001003936:exon3:c.A178C:p.N60H exonic ENSG00000204193 NA nonsynonymous SNV ENSG00000204193:ENST00000374510:exon3:c.A178C:p.N60H,ENSG00000204193:ENST00000374511:exon3:c.A178C:p.N60H NA NA 9q31.3 NA NA NA NA rs7041938 0.1 0.1 0.079 0.0980431 0.1173 0.0774 0.1643 0.0446 0.1247 0.12 0.08 0.13 0.05 0.1283 0.13 0 D 0.988 D 0.689 P 0.142 N 1.000 P 0.625 N 1.95 T -1.049 T 0.001 T 0.058 1.298 10.25 0.139 0.018 0.376 6.233 1.297687 1.297687 0 0.124302 0.064487 NA 0.196 NA 9.4634314 714 3 48309828 48309828 C G exonic ZNF589 NA nonsynonymous SNV ZNF589:NM_016089:exon4:c.C647G:p.T216R exonic ENSG00000164048 NA nonsynonymous SNV ENSG00000164048:ENST00000354698:exon4:c.C647G:p.T216R,ENSG00000164048:ENST00000448461:exon4:c.C647G:p.T216R NA NA 3p21.31 NA Name=STAT3 NA NA rs11718329 0.23 0.23 0.225 0.255791 0.2913 0.124 0.2219 0.3336 0.274 0.28 0.11 0.24 0.28 0.2685 0.32 0.45 T 0.268 B 0.034 B . . 1.000 P 0.52 N 3.32 T -0.926 T 0.000 T 0.027 -1.657 0.012 -2.69 -2.576 -0.710 0.105 -1.656907 NA 0.57 0.310718 0.317121 NA 0.246 NA 9.4628154 714 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 714 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 714 X 153005605 153005605 G A exonic ABCD1 NA synonymous SNV ABCD1:NM_000033:exon6:c.G1548A:p.L516L exonic ENSG00000101986 NA synonymous SNV ENSG00000101986:ENST00000218104:exon6:c.G1548A:p.L516L Score=440;Name=lod=82 NA Xq28 NA NA NA NA rs41314153 0.07 0.07 0.08188 NA NA NA NA NA NA 0.12 0.04 0.04 0.05 0.0992 0.12 . . . . . . . . 0.000 P . . . . -1.039 T 0.004 T . 0.384 6.084 3.09 0.461 0.074 8.638 0.383792 NA NA 0.108353 0.050065 NA 0.065 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000077953.1;CLNDSDB=.;CLNDSDBID=. 9.4591136 714 2 220462640 220462640 G T exonic STK11IP NA nonsynonymous SNV STK11IP:NM_052902:exon1:c.G2T:p.R1M exonic ENSG00000144589 NA nonsynonymous SNV ENSG00000144589:ENST00000295641:exon1:c.G2T:p.R1M NA NA 2q35 NA Name=GATA-1,ELF1_(SC-631),GABP,SP2_(SC-643),NFKB,HA-E2F1,ELK4,TR4,SRF Name=148 NA rs681747 0.86 0.86 0.833 0.833267 0.9652 0.9921 0.9409 0.4448 0.9826 0.97 1 0.94 0.47 0.937 1 0 D . . . . . . 0.999 P . . 3.46 T -1.034 T 0.000 T 0.166 1.919 12.37 -4.18 -1.163 -0.029 5.615 1.918783 1.918783 0 0.973818 0.547959 NA 0.797 NA 9.4573154 714 6 161469774 161469774 G A exonic MAP3K4 NA nonsynonymous SNV MAP3K4:NM_005922:exon3:c.G470A:p.R157H,MAP3K4:NM_006724:exon3:c.G470A:p.R157H exonic ENSG00000085511 NA nonsynonymous SNV ENSG00000085511:ENST00000348824:exon3:c.G470A:p.R157H,ENSG00000085511:ENST00000366919:exon3:c.G470A:p.R157H,ENSG00000085511:ENST00000366920:exon3:c.G470A:p.R157H,ENSG00000085511:ENST00000392142:exon3:c.G470A:p.R157H,ENSG00000085511:ENST00000490904:exon3:c.G470A:p.R157H,ENSG00000085511:ENST00000544041:exon3:c.G470A:p.R157H Score=417;Name=lod=66 NA 6q26 NA NA Name=69 NA rs4559074 0.98 0.98 0.984 0.984225 0.9563 0.995 0.9712 1 0.9898 0.95 0.99 0.97 1 0.9638 1 0.54 T 0.0 B 0.0 B 0.000 N 0.999 P -1.61 N -0.35 T -1.080 T 0.032 T 0.15 -0.051 3.752 5.97 1.083 4.820 12.240 -0.051391 NA 0.18 0.95593 0.992283 NA 0.986 NA 9.4573034 714 12 7637769 7637769 G A exonic CD163 NA nonsynonymous SNV CD163:NM_004244:exon11:c.C2702T:p.T901M,CD163:NM_203416:exon11:c.C2702T:p.T901M exonic ENSG00000177575 NA nonsynonymous SNV ENSG00000177575:ENST00000396620:exon10:c.C2801T:p.T934M,ENSG00000177575:ENST00000359156:exon11:c.C2702T:p.T901M,ENSG00000177575:ENST00000432237:exon11:c.C2702T:p.T901M,ENSG00000177575:ENST00000541972:exon11:c.C2666T:p.T889M NA NA 12p13.31 NA NA NA NA rs61729512 0.09 0.09 0.057 0.113219 0.1272 0.0149 0.2839 0.028 0.1943 0.13 0.01 0.22 0.03 0.1392 0.22 0.29 T 0.856 P 0.25 B 0.213 N 1.000 P 2.465 M 1.21 T -1.062 T 0.000 T 0.106 1.458 10.82 2.77 0.413 0.948 9.513 1.457842 1.457842 0.01 0.110814 0.051294 ID=COSM1364265;OCCURENCE=1(large_intestine) 0.08 NA 9.4561194 714 6 32411646 32411646 T G exonic HLA-DRA NA nonsynonymous SNV HLA-DRA:NM_019111:exon4:c.T724G:p.L242V exonic ENSG00000204287 NA nonsynonymous SNV ENSG00000204287:ENST00000374982:exon4:c.T649G:p.L217V,ENSG00000204287:ENST00000395388:exon4:c.T724G:p.L242V NA Name=Non-obstructive azoospermia 6p21.32 NA Name=Pol2-4H8 NA NA rs7192 0.63 0.63 0.613 0.659545 0.6332 0.6865 0.6902 0.5998 0.7178 0.62 0.68 0.66 0.58 0.6372 0.68 0.21 T 0.0 B 0.0 B 0.331 N 1.000 P . . 4.91 T -0.923 T 0.001 T 0.012 0.909 8.697 -7.3 -1.957 -0.101 4.021 0.908903 NA 0.22 0.607604 0.579749 ID=COSM1443623;OCCURENCE=1(large_intestine) 0.667 NA 9.4553294 715 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 715 11 125488404 125488404 C T exonic STT3A NA synonymous SNV STT3A:NM_152713:exon16:c.C1911T:p.C637C exonic ENSG00000134910 NA synonymous SNV ENSG00000134910:ENST00000531491:exon15:c.C1635T:p.C545C,ENSG00000134910:ENST00000392708:exon16:c.C1911T:p.C637C,ENSG00000134910:ENST00000529196:exon17:c.C1911T:p.C637C Score=613;Name=lod=412 NA 11q24.2 Score=989;Name=V$MYB_Q6 NA Name=3 Score=63;Name=478488_0_-_63 rs17140116 0.11 0.11 0.109 0.111222 0.0736 0.0308 0.062 0.27 0.0532 0.07 0.02 0.06 0.28 0.0763 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.225169 NA NA 0.067341 0.230804 NA 0.101 NA 9.4494256 715 X 151138179 151138179 A C exonic GABRE NA nonsynonymous SNV GABRE:NM_004961:exon3:c.T304G:p.S102A exonic ENSG00000102287 NA nonsynonymous SNV ENSG00000102287:ENST00000370325:exon3:c.T304G:p.S102A,ENSG00000102287:ENST00000370328:exon3:c.T304G:p.S102A NA NA Xq28 Score=766;Name=V$PAX5_02 NA NA NA rs1139916 0.69 0.69 0.67011 NA NA NA NA NA NA 0.72 0.85 0.73 0.44 0.7136 0.85 0.49 T 0.78 P 0.415 B 0.069 N 0.999 P 1.75 L -1.09 T -0.903 T 0.000 T 0.098 1.053 9.301 2.71 0.204 3.505 7.380 1.052992 NA 0.05 0.670482 0.504042 NA 0.493 NA 9.4492514 715 7 77247821 77247821 G A exonic PTPN12 NA nonsynonymous SNV PTPN12:NM_001131009:exon11:c.G574A:p.V192I,PTPN12:NM_001131008:exon12:c.G607A:p.V203I,PTPN12:NM_002835:exon12:c.G964A:p.V322I exonic ENSG00000127947 NA nonsynonymous SNV ENSG00000127947:ENST00000435495:exon11:c.G574A:p.V192I,ENSG00000127947:ENST00000248594:exon12:c.G964A:p.V322I,ENSG00000127947:ENST00000415482:exon12:c.G607A:p.V203I Score=483;Name=lod=122 NA 7q11.23 Score=881;Name=V$YY1_01 NA NA NA rs9640663 0.76 0.76 0.771 0.78734 0.6252 0.9048 0.7695 0.8729 0.7301 0.61 0.89 0.73 0.86 0.6721 0.89 0.55 T 0.0 B 0.002 B 0.036 N 0.972 P 0.51 N 1.36 T -1.020 T 0.000 T 0.019 1.817 12.04 3.41 0.696 2.143 9.193 1.817478 1.817478 0.35 0.587093 0.826827 ID=COSM1568868;OCCURENCE=1(large_intestine) 0.819 NA 9.4489404 715 11 102587062 102587062 G A exonic MMP8 NA synonymous SNV MMP8:NM_002424:exon6:c.C873T:p.L291L exonic ENSG00000118113 NA synonymous SNV ENSG00000118113:ENST00000236826:exon6:c.C873T:p.L291L Score=284;Name=lod=19 NA 11q22.2 NA NA NA NA rs3740938 0.11 0.11 0.097 0.117412 0.0626 0.2778 0.1282 0.0038 0.1544 0.06 0.27 0.11 0.002 0.0943 0.27 . . . . . . . . 0.000 P . . . . -1.038 T 0.000 T . 0.902 8.669 4.11 1.092 -0.270 8.523 0.902281 NA NA 0.063619 0.019519 ID=COSM147313;OCCURENCE=1(stomach),1(large_intestine) 0.203 NA 9.4461476 715 16 56673227 56673227 C A exonic MT1A NA nonsynonymous SNV MT1A:NM_005946:exon2:c.C80A:p.T27N exonic ENSG00000205362 NA nonsynonymous SNV ENSG00000205362:ENST00000290705:exon2:c.C80A:p.T27N Score=363;Name=lod=40 NA 16q12.2 NA NA NA NA rs11640851 0.52 0.52 0.475 0.470647 0.6441 0.4752 0.6167 0.2254 0.5153 0.64 0.52 0.62 0.25 0.5961 0.65 0.01 D 0.928 P 0.642 P 0.000 U 0.002 P . . 2.91 T -1.017 T 0.000 T 0.11 0.209 5.129 1.96 0.552 1.566 7.591 0.209331 NA 0.02 0.647326 0.289126 NA 0.543 NA 9.4458074 715 2 85622059 85622059 T C exonic CAPG NA nonsynonymous SNV CAPG:NM_001256139:exon10:c.A1004G:p.H335R,CAPG:NM_001256140:exon10:c.A959G:p.H320R,CAPG:NM_001747:exon10:c.A1004G:p.H335R exonic ENSG00000042493 NA nonsynonymous SNV ENSG00000042493:ENST00000453973:exon4:c.A269G:p.H90R,ENSG00000042493:ENST00000263867:exon10:c.A1004G:p.H335R,ENSG00000042493:ENST00000409670:exon10:c.A1004G:p.H335R,ENSG00000042493:ENST00000409724:exon10:c.A1004G:p.H335R,ENSG00000042493:ENST00000409921:exon10:c.A959G:p.H320R Score=599;Name=lod=364 NA 2p11.2 Score=832;Name=V$NFKB_Q6 NA NA NA rs6886 0.61 0.61 0.661 0.585064 0.6551 0.504 0.3977 0.7489 0.5082 0.67 0.5 0.44 0.79 0.5882 0.79 0.33 T 0.0 B 0.0 B 0.001 N 1.000 P -0.31 N 0.64 T -1.007 T 0.000 T 0.066 1.618 11.37 3.9 0.368 2.004 8.092 1.618331 1.618331 0.27 0.644535 0.732637 NA 0.681 NA 9.4454984 716 X 24073761 24073761 C T exonic EIF2S3 NA synonymous SNV EIF2S3:NM_001415:exon2:c.C99T:p.H33H exonic ENSG00000130741 NA synonymous SNV ENSG00000130741:ENST00000253039:exon2:c.C99T:p.H33H Score=554;Name=lod=237 NA Xp22.11 NA NA Name=3 NA rs36018672 0.48 0.48 0.45072 NA NA NA NA NA NA 0.69 0.42 0.62 0.11 0.5496 0.69 . . . . . . . . 0.000 P . . . . . . . . . 1.195 9.857 -5.59 -0.749 0.070 2.805 1.195295 NA NA 0.674792 0.193742 NA 0.37 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116975.2;CLNDSDB=.;CLNDSDBID=. 9.4422746 716 8 6500544 6500544 C T exonic MCPH1 NA nonsynonymous SNV MCPH1:NM_024596:exon14:c.C2482T:p.P828S exonic ENSG00000147316 NA nonsynonymous SNV ENSG00000147316:ENST00000344683:exon14:c.C2482T:p.P828S Score=431;Name=lod=75 NA 8p23.1 NA NA NA NA rs1057091 0.23 0.23 0.23 0.24361 0.2972 0.2103 0.183 0.174 0.3599 0.29 0.2 0.22 0.16 0.2917 0.3 0.18 T 0.0 B 0.0 B 0.053 N 1.000 P -0.51 N -2.55 D -1.034 T 0.000 T 0.031 -1.988 0.007 -1.42 -0.340 0.291 1.008 -1.987825 NA 0.3 0.302169 0.186035 NA 0.406 CLINSIG=non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_1;CLNREVSTAT=single;CLNACC=RCV000020901.1;CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet;CLNDSDBID=NBK9587:C1855081:251200:606858:ORPHA2512 9.4422644 716 20 2539387 2539387 G A exonic TMC2 NA nonsynonymous SNV TMC2:NM_080751:exon3:c.G368A:p.R123K exonic ENSG00000149488 NA nonsynonymous SNV ENSG00000149488:ENST00000358864:exon3:c.G368A:p.R123K Score=300;Name=lod=22 NA 20p13 NA Name=NRSF,SUZ12 Name=3 NA rs6050063 0.64 0.64 0.611 0.654353 0.6203 0.5466 0.634 0.7398 0.6994 0.65 0.5 0.66 0.75 0.6481 0.75 0.86 T 0.0 B 0.0 B 0.000 N 1.000 P -1.995 N 0.81 T -1.025 T 0.000 T 0.02 -1.438 0.02 . -1.413 2.139 . -1.437675 NA 1 0.623633 0.722853 NA 0.674 NA 9.4413004 716 20 49509184 49509184 G A exonic ADNP NA synonymous SNV ADNP:NM_181442:exon4:c.C2067T:p.G689G,ADNP:NM_015339:exon5:c.C2067T:p.G689G exonic ENSG00000101126 NA synonymous SNV ENSG00000101126:ENST00000371602:exon3:c.C2067T:p.G689G,ENSG00000101126:ENST00000349014:exon4:c.C2067T:p.G689G,ENSG00000101126:ENST00000396032:exon4:c.C2067T:p.G689G,ENSG00000101126:ENST00000396029:exon5:c.C2067T:p.G689G Score=472;Name=lod=110 NA 20q13.13 Score=838;Name=V$EGR1_01 Name=YY1_(C-20),NFKB Name=5 NA rs17790938 0.1 0.1 0.109 0.104433 0.0656 0.0992 0.0648 0.171 0.0879 0.06 0.09 0.07 0.2 0.0823 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275468 NA NA 0.078721 0.126419 NA 0.087 NA 9.4400456 716 19 54600232 54600232 A C exonic OSCAR NA nonsynonymous SNV OSCAR:NM_133168:exon2:c.T257G:p.I86S,OSCAR:NM_133169:exon3:c.T290G:p.I97S,OSCAR:NM_130771:exon4:c.T302G:p.I101S,OSCAR:NM_206818:exon4:c.T302G:p.I101S exonic ENSG00000170909 NA nonsynonymous SNV ENSG00000170909:ENST00000351806:exon2:c.T257G:p.I86S,ENSG00000170909:ENST00000391761:exon2:c.T257G:p.I86S,ENSG00000170909:ENST00000358375:exon3:c.T290G:p.I97S,ENSG00000170909:ENST00000391760:exon3:c.T117G:p.N39K,ENSG00000170909:ENST00000284648:exon4:c.T290G:p.I97S,ENSG00000170909:ENST00000356532:exon4:c.T302G:p.I101S,ENSG00000170909:ENST00000359649:exon4:c.T302G:p.I101S Score=340;Name=lod=32 NA 19q13.42 NA Name=ELF1_(SC-631) Name=89 NA rs1657535 0.87 0.87 0.869 0.866414 0.9851 0.6984 0.902 0.8623 0.8978 0.98 0.69 0.92 0.87 0.9344 0.98 0.36 T 0.002 B 0.005 B 0.004 N 0.999 P -1.615 N 2.72 T -0.991 T 0.000 T 0.063 -1.262 0.047 3.0 0.322 1.191 5.285 -1.261769 NA 0.32 0.974535 0.89015 NA 0.92 NA 9.4392984 716 X 48418126 48418126 A G exonic TBC1D25 NA nonsynonymous SNV TBC1D25:NM_002536:exon6:c.A830G:p.N277S exonic ENSG00000068354 NA nonsynonymous SNV ENSG00000068354:ENST00000537536:exon5:c.A68G:p.N23S,ENSG00000068354:ENST00000376771:exon6:c.A830G:p.N277S Score=243;Name=lod=13 NA Xp11.23 NA NA NA NA rs2293948 0.54 0.54 0.54531 NA NA NA NA NA NA 0.42 0.56 0.43 0.78 0.4672 0.78 1 T 0.0 B 0.003 B 0.000 N 0.000 P -0.37 N 1.12 T -0.930 T 0.000 T 0.007 -1.971 0.007 3.9 0.206 1.533 8.656 -1.970642 NA 1 0.427319 0.763233 NA 0.464 NA 9.4388144 716 6 35967772 35967772 T C exonic SLC26A8 NA nonsynonymous SNV SLC26A8:NM_001193476:exon4:c.A442G:p.I148V,SLC26A8:NM_052961:exon4:c.A442G:p.I148V,SLC26A8:NM_138718:exon4:c.A442G:p.I148V exonic ENSG00000112053 NA nonsynonymous SNV ENSG00000112053:ENST00000355574:exon4:c.A442G:p.I148V,ENSG00000112053:ENST00000394602:exon4:c.A442G:p.I148V,ENSG00000112053:ENST00000490799:exon4:c.A442G:p.I148V Score=489;Name=lod=130 NA 6p21.31 NA NA NA NA rs17713154 0.11 0.11 0.098 0.104832 0.1402 0.0506 0.1427 0.0885 0.1196 0.14 0.06 0.17 0.07 0.1227 0.17 0.9 T 0.619 P 0.172 B 0.001 N 0.316 P 0.265 N -2.67 D -0.746 T 0.198 T 0.086 0.562 7.036 1.73 0.443 0.851 6.604 0.561555 NA 0.5 0.13314 0.089877 NA 0.123 NA 9.4372934 716 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 716 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 716 20 60921643 60921643 T C exonic LAMA5 NA nonsynonymous SNV LAMA5:NM_005560:exon9:c.A1201G:p.T401A exonic ENSG00000130702 NA nonsynonymous SNV ENSG00000130702:ENST00000252999:exon9:c.A1201G:p.T401A,ENSG00000130702:ENST00000370677:exon9:c.A1201G:p.T401A,ENSG00000130702:ENST00000370692:exon9:c.A1201G:p.T401A Score=439;Name=lod=81 NA 20q13.33 NA NA NA NA rs4925229 0.88 0.88 0.865 0.859425 0.9771 0.9613 0.853 0.6142 0.9693 0.98 0.97 0.85 0.64 0.9437 0.98 0.41 T 0.4 B 0.113 B 0.000 D 0.086 P 0.9 L 0.16 T -0.943 T 0.000 T 0.155 0.446 6.423 4.63 1.719 1.064 7.138 0.44612 NA 0.37 0.976562 0.687958 NA 0.855 NA 9.4359714 716 6 79675701 79675701 A G exonic PHIP NA nonsynonymous SNV PHIP:NM_017934:exon28:c.T3278C:p.L1093P exonic ENSG00000146247 NA nonsynonymous SNV ENSG00000146247:ENST00000275034:exon28:c.T3278C:p.L1093P Score=674;Name=lod=729 NA 6q14.1 NA NA NA NA rs9350797 0.26 0.26 0.248 0.216853 0.3211 0.1855 0.2824 0.1672 0.1626 0.33 0.22 0.3 0.18 0.2753 0.33 . . 0.0 B 0.0 B 0.006 N 0.001 P -0.935 N 0.99 T -0.963 T 0.011 T 0.06 -0.153 3.253 2.76 0.347 2.470 6.828 -0.152753 NA 1 0.301628 0.197231 NA 0.254 NA 9.4353054 717 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 717 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 717 19 57050515 57050515 C G exonic ZFP28 NA nonsynonymous SNV ZFP28:NM_020828:exon1:c.C128G:p.A43G exonic ENSG00000196867 NA nonsynonymous SNV ENSG00000196867:ENST00000301318:exon1:c.C128G:p.A43G,ENSG00000196867:ENST00000589836:exon1:c.C17G:p.A6G,ENSG00000196867:ENST00000591844:exon1:c.C128G:p.A43G NA NA 19q13.43 Score=854;Name=V$IK1_01 Name=Pol2 Name=39 NA rs7258088 0.41 0.41 0.414 0.420927 0.2654 0.625 0.3573 0.4607 0.362 0.26 0.63 0.35 0.43 0.4126 0.63 0.5 T 0.024 B 0.008 B 0.472 N 1.000 P 0.55 N 3.41 T -1.031 T 0.000 T 0.061 1.514 11.01 -1.5 -0.198 0.096 5.693 1.514162 1.514162 0.12 0.224908 0.363569 ID=COSM440426;OCCURENCE=3(breast) 0.341 NA 9.4304254 717 1 154904840 154904840 T C exonic PMVK NA synonymous SNV PMVK:NM_006556:exon2:c.A147G:p.E49E exonic ENSG00000163344 NA synonymous SNV ENSG00000163344:ENST00000368467:exon2:c.A147G:p.E49E Score=410;Name=lod=62 NA 1q21.3 Score=809;Name=V$SRF_Q6 Name=Pol2,TAF1,Pol2-4H8,HNF4A,HNF4G_(SC-6558),SP1,TBP,HNF4A_(H-171),GR,JunD,SMC3_(ab9263) Name=28 NA rs1891805 0.19 0.19 0.2 0.206869 0.0636 NA 0.0836 0.6407 0.0685 0.07 NA 0.1 0.65 0.1086 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.162037 NA NA 0.064535 0.569905 NA 0.232 NA 9.4299316 717 1 23419374 23419374 G T exonic LUZP1 NA nonsynonymous SNV LUZP1:NM_001142546:exon3:c.C1381A:p.Q461K,LUZP1:NM_033631:exon4:c.C1381A:p.Q461K exonic ENSG00000169641 NA nonsynonymous SNV ENSG00000169641:ENST00000314174:exon2:c.C1381A:p.Q461K,ENSG00000169641:ENST00000374623:exon2:c.C1381A:p.Q461K,ENSG00000169641:ENST00000418342:exon3:c.C1381A:p.Q461K,ENSG00000169641:ENST00000302291:exon4:c.C1381A:p.Q461K Score=458;Name=lod=97 NA 1p36.12 NA NA NA NA rs3765407 0.73 0.73 0.717 0.676917 0.828 0.8065 0.5922 0.5923 0.5624 0.83 0.79 0.6 0.59 0.749 0.83 0.13 T 0.634 P 0.116 B 0.076 N 1.000 P 1.59 L 2.7 T -1.097 T 0.000 T 0.262 1.475 10.88 3.97 2.694 3.507 13.124 1.474599 1.474599 0.25 0.827558 0.615524 NA 0.761 NA 9.4287754 717 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$FREAC3_01 NA NA NA rs11546 0.05 0.05 0.045 0.0625 0.0626 0.0159 0.0749 0.053 0.1145 0.07 0.01 0.07 0.06 0.0775 0.098 . . . . . . . . 1.000 D . . . . -1.038 T 0.004 T . 0.396 6.153 -2.35 -0.584 -0.219 0.509 0.396415 NA NA 0.098256 0.062869 NA 0.022 NA 9.4283106 717 1 79392756 79392756 C A exonic ELTD1 NA nonsynonymous SNV ELTD1:NM_022159:exon8:c.G898T:p.V300L exonic ENSG00000162618 NA nonsynonymous SNV ENSG00000162618:ENST00000370742:exon8:c.G898T:p.V300L Score=519;Name=lod=171 NA 1p31.1 Score=801;Name=V$OCT1_04 NA NA NA rs12754818 0.62 0.62 0.573 0.620607 0.6183 0.7044 0.6844 0.4939 0.6626 0.62 0.72 0.67 0.48 0.6478 0.72 . . 0.0 B 0.001 B 0.000 N 1.000 P -1.445 N 2.73 T -0.917 T 0.003 T 0.096 -0.282 2.652 3.74 0.187 1.538 5.264 -0.281777 NA 1 0.639612 0.525084 NA 0.63 NA 9.4276214 718 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 718 2 55407754 55407754 C T exonic CLHC1 NA nonsynonymous SNV CLHC1:NM_001135598:exon9:c.G910A:p.V304I,CLHC1:NM_152385:exon11:c.G1276A:p.V426I exonic ENSG00000162994 NA nonsynonymous SNV ENSG00000162994:ENST00000406076:exon9:c.G910A:p.V304I,ENSG00000162994:ENST00000407122:exon10:c.G1276A:p.V426I,ENSG00000162994:ENST00000401408:exon11:c.G1276A:p.V426I Score=295;Name=lod=21 NA 2p16.1 Score=754;Name=V$EVI1_01 Name=HNF4G_(SC-6558),FOXA1_(C-20),FOXA1_(SC-101058),HDAC2_(SC-6296),p300,HNF4A_(H-171),FOXA2_(SC-6554) NA NA rs6716066 0.97 0.97 0.98 0.965056 0.9692 0.9762 0.9856 0.9977 0.8906 0.96 0.96 0.98 1 0.9652 1 1 T 0.0 B 0.0 B 0.001 N 0.000 P -0.75 N 1.1 T -0.947 T 0.000 T 0.056 0.02 4.119 3.59 0.481 1.573 7.296 0.020359 NA 1 0.97686 0.994553 NA 1 NA 9.4220734 718 17 74287389 74287389 T C exonic QRICH2 NA nonsynonymous SNV QRICH2:NM_032134:exon4:c.A2921G:p.H974R exonic ENSG00000129646 NA nonsynonymous SNV ENSG00000129646:ENST00000262765:exon4:c.A2921G:p.H974R NA NA 17q25.1 NA NA NA NA rs2279053 0.45 0.45 0.489 0.469249 0.2744 0.5734 0.3098 0.7065 0.3548 0.26 0.58 0.29 0.71 0.3483 0.71 0.46 T 0.0 B 0.0 B . . 1.000 P 0 N 3.13 T -0.993 T 0.000 T 0.012 -0.28 2.659 -9.36 -2.936 -0.988 1.727 -0.280104 NA 0.85 0.288721 0.664321 NA 0.399 NA 9.4219124 718 17 74289705 74289705 A G exonic QRICH2 NA nonsynonymous SNV QRICH2:NM_032134:exon4:c.T605C:p.L202S exonic ENSG00000129646 NA nonsynonymous SNV ENSG00000129646:ENST00000262765:exon4:c.T605C:p.L202S NA NA 17q25.1 NA NA NA NA rs6501880 0.44 0.44 0.474 0.46266 0.2753 0.5724 0.3084 0.6815 0.3558 0.26 0.58 0.29 0.68 0.3474 0.68 0.8 T 0.002 B 0.002 B . . 1.000 P 0.235 N 2.26 T -0.978 T 0.000 T 0.086 -0.032 3.851 -4.53 -1.269 -0.980 7.182 -0.031778 NA 0.03 0.28907 0.643895 NA 0.391 NA 9.4215634 718 11 6891704 6891704 T C exonic OR10A2 NA nonsynonymous SNV OR10A2:NM_001004460:exon1:c.T719C:p.I240T exonic ENSG00000170790 NA nonsynonymous SNV ENSG00000170790:ENST00000307322:exon1:c.T719C:p.I240T Score=385;Name=lod=49 NA 11p15.4 Score=763;Name=V$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 718 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 718 X 48418659 48418659 G A exonic TBC1D25 NA nonsynonymous SNV TBC1D25:NM_002536:exon6:c.G1363A:p.A455T exonic ENSG00000068354 NA nonsynonymous SNV ENSG00000068354:ENST00000537536:exon5:c.G601A:p.A201T,ENSG00000068354:ENST00000376771:exon6:c.G1363A:p.A455T NA NA Xp11.23 NA NA NA NA rs235836 0.54 0.54 0.54452 NA NA NA NA NA NA 0.41 0.56 0.43 0.78 0.4847 0.78 1 T 0.0 B 0.0 B 0.027 N 1.000 P 0 N 2.0 T -0.981 T 0.000 T 0.013 -1.479 0.018 -7.34 -2.436 -1.130 3.107 -1.479371 NA 1 0.427467 0.762973 NA 0.471 NA 9.4211664 718 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 718 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 718 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 718 8 17918934 17918934 A G exonic ASAH1 NA nonsynonymous SNV ASAH1:NM_001127505:exon10:c.T719C:p.V240A,ASAH1:NM_004315:exon10:c.T785C:p.V262A,ASAH1:NM_177924:exon10:c.T737C:p.V246A exonic ENSG00000104763 NA nonsynonymous SNV ENSG00000104763:ENST00000417108:exon9:c.T467C:p.V156A,ENSG00000104763:ENST00000520781:exon9:c.T662C:p.V221A,ENSG00000104763:ENST00000262097:exon10:c.T737C:p.V246A,ENSG00000104763:ENST00000314146:exon10:c.T719C:p.V240A,ENSG00000104763:ENST00000381733:exon10:c.T785C:p.V262A Score=546;Name=lod=221 NA 8p22 NA Name=Pol2-4H8,GABP,ELF1_(SC-631) NA NA rs10103355 0.86 0.86 0.839 0.85024 0.9811 0.8641 0.9697 0.5877 0.9714 0.98 0.85 0.97 0.59 0.9431 0.99 1 T 0.0 B 0.001 B 0.000 N 1.000 P -2.155 N -1.19 T -0.943 T 0.000 T 0.061 1.102 9.495 3.34 1.378 2.684 4.278 1.101723 NA 0.97 0.99093 0.623922 NA 0.833 NA 9.4182034 718 1 47279175 47279175 C T exonic CYP4B1 NA nonsynonymous SNV CYP4B1:NM_000779:exon5:c.C517T:p.R173W,CYP4B1:NM_001099772:exon5:c.C517T:p.R173W exonic ENSG00000142973 NA nonsynonymous SNV ENSG00000142973:ENST00000452782:exon3:c.C28T:p.R10W,ENSG00000142973:ENST00000468637:exon3:c.C28T:p.R10W,ENSG00000142973:ENST00000371919:exon4:c.C472T:p.R158W,ENSG00000142973:ENST00000271153:exon5:c.C517T:p.R173W,ENSG00000142973:ENST00000371923:exon5:c.C517T:p.R173W,ENSG00000142973:ENST00000464439:exon5:c.C517T:p.R173W,ENSG00000142973:ENST00000526297:exon5:c.C28T:p.R10W NA NA 1p33 NA NA NA NA rs4646487 0.15 0.15 0.174 0.184505 0.1372 0.2123 0.1138 0.2027 0.2301 0.14 0.17 0.11 0.19 0.1498 0.19 0.01 D 0.998 D 0.809 P 0.167 N 1.000 P 1.32 L -0.37 T -1.098 T 0.001 T 0.322 2.44 14.12 0.775 0.168 0.723 5.297 2.440188 2.440188 0.02 0.129186 0.186337 NA 0.109 NA 9.4171474 718 X 30254361 30254361 G A exonic MAGEB3 NA nonsynonymous SNV MAGEB3:NM_002365:exon5:c.G320A:p.R107H exonic ENSG00000198798 NA nonsynonymous SNV ENSG00000198798:ENST00000361644:exon5:c.G320A:p.R107H,ENSG00000198798:ENST00000378986:exon5:c.G320A:p.R107H NA NA Xp21.2 NA NA NA NA rs2071308 0.47 0.47 0.45072 NA NA NA NA NA NA 0.49 0.53 0.52 0.32 0.4702 0.53 0.6 T 0.0 B 0.0 B 0.941 U 1.000 P 0.655 N 4.63 T -0.932 T 0.000 T 0.014 -1.64 0.013 -8.21 -6.183 -3.470 14.277 -1.639962 NA 0.58 0.446641 0.338116 ID=COSM1132338;OCCURENCE=1(prostate),2(large_intestine) 0.326 NA 9.4164924 718 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 718 20 47253150 47253150 T C exonic PREX1 NA nonsynonymous SNV PREX1:NM_020820:exon32:c.A4018G:p.K1340E exonic ENSG00000124126 NA nonsynonymous SNV ENSG00000124126:ENST00000371941:exon32:c.A4018G:p.K1340E,ENSG00000124126:ENST00000396220:exon32:c.A4018G:p.K1340E Score=444;Name=lod=85 NA 20q13.13 Score=902;Name=V$E47_02 NA NA NA rs2664521 0.98 0.98 0.987 0.991613 0.9642 1 0.9914 1 1 0.95 1 0.99 0.99 0.9775 1 1 T 0.0 B 0.0 B 0.001 N 0.983 P -2.045 N 1.81 T -0.953 T 0.000 T 0.387 1.403 10.63 4.57 1.070 5.697 13.122 1.403264 1.403264 1 0.976343 0.991117 NA 0.993 NA 9.4152904 719 8 27903069 27903069 C T exonic NUGGC NA nonsynonymous SNV NUGGC:NM_001010906:exon12:c.G1421A:p.S474N exonic ENSG00000189233 NA nonsynonymous SNV ENSG00000189233:ENST00000341513:exon12:c.G1421A:p.S474N,ENSG00000189233:ENST00000413272:exon12:c.G1421A:p.S474N Score=414;Name=lod=64 NA 8p21.1 NA NA NA NA rs13279787 0.38 0.38 0.355 0.378195 0.2972 0.4375 0.4092 0.4304 0.3078 0.3 0.45 0.37 0.44 0.3412 0.45 0.39 T 0.001 B 0.001 B 0.005 N 0.990 P 0.345 N 1.49 T -0.901 T 0.000 T 0.002 0.616 7.315 2.29 1.181 0.340 6.573 0.615758 NA 0.17 0.281197 0.378898 NA 0.391 NA 9.4137364 719 4 169433326 169433326 T C exonic PALLD NA nonsynonymous SNV PALLD:NM_001166108:exon2:c.T671C:p.M224T,PALLD:NM_016081:exon2:c.T671C:p.M224T exonic ENSG00000129116 NA nonsynonymous SNV ENSG00000129116:ENST00000333488:exon1:c.T302C:p.M101T,ENSG00000129116:ENST00000508898:exon1:c.T608C:p.M203T,ENSG00000129116:ENST00000261509:exon2:c.T671C:p.M224T,ENSG00000129116:ENST00000505667:exon2:c.T671C:p.M224T NA NA 4q32.3 NA Name=CTCF Name=3 NA rs7655494 0.2 0.2 0.215 0.239617 0.33 0.1935 0.1844 0.2368 0.2372 0.27 0.15 0.19 0.18 0.2852 0.3 0.9 T 0.0 B 0.0 B 0.157 N 1.000 P -1.04 N 0.41 T -1.015 T 0.000 T 0.023 -2.912 0.001 3.67 0.273 0.369 1.752 -2.912011 NA 1 0.304767 0.242397 NA NA NA 9.4133664 719 5 90107108 90107108 A G exonic GPR98 NA nonsynonymous SNV GPR98:NM_032119:exon74:c.A16031G:p.E5344G exonic ENSG00000164199 NA nonsynonymous SNV ENSG00000164199:ENST00000425867:exon10:c.A3014G:p.E1005G,ENSG00000164199:ENST00000405460:exon74:c.A16031G:p.E5344G Score=550;Name=lod=230 NA 5q14.3 Score=835;Name=V$GFI1_01 NA NA NA rs2438374 0.95 0.95 0.941 0.946086 0.9791 1 0.9697 0.8306 0.9959 0.98 1 0.97 0.82 0.9686 1 . . 0.0 B 0.001 B 0.000 N 1.000 P -1.185 N 1.84 T -0.970 T 0.000 T 0.042 -0.951 0.34 4.61 0.701 1.349 7.885 -0.951207 NA 0.66 0.973409 0.854366 NA 0.964 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000039538.2;CLNDSDB=.;CLNDSDBID=. 9.4122244 719 4 144801662 144801662 C T exonic GYPE NA nonsynonymous SNV GYPE:NM_002102:exon2:c.G38A:p.G13E,GYPE:NM_198682:exon2:c.G38A:p.G13E exonic ENSG00000197465 NA nonsynonymous SNV ENSG00000197465:ENST00000358615:exon2:c.G38A:p.G13E,ENSG00000197465:ENST00000437468:exon2:c.G38A:p.G13E,ENSG00000197465:ENST00000506264:exon2:c.G38A:p.G13E NA NA 4q31.21 NA NA NA NA rs1132785 0.8 0.8 NA 0.532947 0.4891 0.6062 0.4568 0.6225 0.4356 0.66 0.95 0.64 0.96 0.4329 0.96 1 T 0.003 B 0.001 B . . 1.000 P . . 4.24 T -0.982 T 0.000 T 0.118 -1.362 0.027 -3.03 -2.529 -2.276 4.603 -1.361615 NA 0.52 NA NA NA 0.138 NA 9.4113334 719 14 24587639 24587639 G A exonic DCAF11 NA nonsynonymous SNV DCAF11:NM_001163484:exon7:c.G620A:p.R207H,DCAF11:NM_025230:exon7:c.G620A:p.R207H,DCAF11:NM_181357:exon7:c.G542A:p.R181H exonic ENSG00000100897 NA nonsynonymous SNV ENSG00000100897:ENST00000396936:exon5:c.G320A:p.R107H,ENSG00000100897:ENST00000396941:exon7:c.G542A:p.R181H,ENSG00000100897:ENST00000446197:exon7:c.G620A:p.R207H,ENSG00000100897:ENST00000559115:exon7:c.G620A:p.R207H,ENSG00000100897:ENST00000561375:exon7:c.G542A:p.R181H Score=681;Name=lod=784 NA 14q11.2 NA NA NA NA rs3825584 0.36 0.36 0.34 0.397165 0.3032 0.4355 0.4625 0.3351 0.4918 0.31 0.4 0.45 0.34 0.3473 0.45 0.21 T 0.001 B 0.003 B 0.070 N 0.997 P -0.55 N 1.01 T -0.902 T 0.000 T 0.303 1.709 11.67 -5.29 -1.098 0.021 13.226 1.708956 1.708956 0.19 0.272093 0.318883 NA 0.29 NA 9.4107404 719 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 719 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 719 22 25601196 25601196 C G exonic CRYBB3 NA nonsynonymous SNV CRYBB3:NM_004076:exon5:c.C337G:p.H113D exonic ENSG00000100053 NA nonsynonymous SNV ENSG00000100053:ENST00000215855:exon5:c.C337G:p.H113D Score=567;Name=lod=270 NA 22q11.23 NA NA NA NA rs9608378 0.68 0.68 0.658 0.664137 0.6402 0.9296 0.732 0.4213 0.6953 0.63 0.93 0.72 0.42 0.6558 0.93 0.59 T 0.0 B 0.0 B 0.001 N 0.000 P -1.66 N -0.77 T -0.963 T 0.000 T 0.051 0.814 8.274 5.3 1.242 7.097 14.878 0.814062 NA 0.55 0.630814 0.467317 NA 0.681 NA 9.4065194 719 17 64783081 64783081 G A exonic PRKCA NA nonsynonymous SNV PRKCA:NM_002737:exon15:c.G1702A:p.V568I exonic ENSG00000154229 NA nonsynonymous SNV ENSG00000154229:ENST00000413366:exon15:c.G1702A:p.V568I Score=515;Name=lod=165 NA 17q24.2 Score=841;Name=V$OCT_C NA NA NA rs6504459 0.99 0.99 0.992 0.992013 0.9751 0.999 0.987 1 0.9949 0.97 1 0.98 1 0.9799 1 1 T 0.0 B 0.0 B 0.000 N 0.997 P -0.01 N 0.57 T -0.919 T 0.000 T 0.151 1.167 9.749 5.68 0.977 7.081 11.768 1.167063 NA 1 0.972907 0.994326 NA 1 NA 9.4054264 720 12 52448157 52448157 G A exonic NR4A1 NA synonymous SNV NR4A1:NM_173157:exon2:c.G45A:p.P15P,NR4A1:NM_001202233:exon3:c.G84A:p.P28P,NR4A1:NM_002135:exon3:c.G45A:p.P15P exonic ENSG00000123358 NA synonymous SNV ENSG00000123358:ENST00000394825:exon2:c.G45A:p.P15P,ENSG00000123358:ENST00000548232:exon2:c.G45A:p.P15P,ENSG00000123358:ENST00000550082:exon2:c.G84A:p.P28P,ENSG00000123358:ENST00000550763:exon2:c.G45A:p.P15P,ENSG00000123358:ENST00000243050:exon3:c.G45A:p.P15P,ENSG00000123358:ENST00000360284:exon3:c.G84A:p.P28P,ENSG00000123358:ENST00000394824:exon3:c.G45A:p.P15P,ENSG00000123358:ENST00000545748:exon3:c.G207A:p.P69P,ENSG00000123358:ENST00000546842:exon3:c.G84A:p.P28P,ENSG00000123358:ENST00000548977:exon3:c.G84A:p.P28P Score=463;Name=lod=102 NA 12q13.13 Score=862;Name=V$ARNT_01 Name=Pol2(b) Name=18 NA rs2701124 0.15 0.15 0.175 0.148163 0.0785 0.1121 0.0504 0.3238 0.089 0.09 0.12 0.04 0.34 0.1021 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.36803 NA NA 0.082209 0.278257 NA 0.152 NA 9.4038576 720 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 720 11 17418477 17418477 C A exonic ABCC8 NA nonsynonymous SNV ABCC8:NM_000352:exon33:c.G4105T:p.A1369S exonic ENSG00000006071 NA nonsynonymous SNV ENSG00000006071:ENST00000302539:exon33:c.G4108T:p.A1370S,ENSG00000006071:ENST00000389817:exon33:c.G4105T:p.A1369S Score=440;Name=lod=82 NA 11p15.1 Score=860;Name=V$GATA1_03 NA NA NA rs757110 0.71 0.71 0.745 0.726438 0.6481 0.6389 0.6931 0.975 0.5849 0.66 0.59 0.67 0.97 0.6431 0.97 0.58 T 0.0 B 0.0 B 0.019 N 1.000 P 0.01 N -3.18 D -1.002 T 0.000 T 0.664 -1.576 0.014 2.37 -0.033 0.170 8.308 -1.576064 NA 0.4 0.639413 0.932045 NA 0.768 NA 9.4027204 720 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 720 11 5809548 5809548 G A exonic OR52N1 NA nonsynonymous SNV OR52N1:NM_001001913:exon1:c.C499T:p.R167C exonic ENSG00000181001 NA nonsynonymous SNV ENSG00000181001:ENST00000317078:exon1:c.C499T:p.R167C Score=336;Name=lod=31 NA 11p15.4 NA NA NA NA rs7948009 0.57 0.57 0.543 0.551717 0.6382 0.7054 0.5908 0.2458 0.6902 0.65 0.72 0.64 0.23 0.6316 0.72 0.01 D 0.08 B 0.082 B 0.008 N 0.000 P 2.285 M 8.59 T -0.937 T 0.000 T 0.173 0.746 7.954 1.38 0.618 -2.131 3.853 0.745558 NA 0.01 0.661778 0.326215 NA 0.543 NA 9.4017554 720 19 9086123 9086123 A C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon1:c.T5692G:p.Y1898D exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon1:c.T5692G:p.Y1898D NA NA 19p13.2 NA NA NA NA rs10402812 0.22 0.22 0.208 0.226438 0.3111 0.0228 0.2983 0.27 0.2393 0.31 0.02 0.31 0.26 0.292 0.33 0 D 0.991 D 0.955 D . . . . . . 4.77 T -0.886 T 0.000 T 0.047 -0.889 0.462 0.225 0.257 -1.057 . -0.888737 NA 0.89 0.329565 0.266495 NA 0.268 NA 9.4006684 720 17 8026364 8026364 C T exonic HES7 NA synonymous SNV HES7:NM_001165967:exon2:c.G123A:p.E41E,HES7:NM_032580:exon2:c.G123A:p.E41E exonic ENSG00000179111 NA synonymous SNV ENSG00000179111:ENST00000317814:exon2:c.G123A:p.E41E,ENSG00000179111:ENST00000541682:exon2:c.G123A:p.E41E,ENSG00000179111:ENST00000577735:exon3:c.G99A:p.E33E Score=629;Name=lod=479 NA 17p13.1 Score=788;Name=V$PPARA_01 Name=Pol2 Name=53 NA rs61731639 0.16 0.16 0.121 0.140176 0.0437 0.375 0.2709 0.0068 0.0849 0.05 0.41 0.19 0.01 0.1831 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.439321 1.439321 NA 0.040321 0.01366 NA 0.08 NA 9.3995456 720 19 9083174 9083174 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon1:c.C8641T:p.P2881S exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon1:c.C8641T:p.P2881S NA NA 19p13.2 NA NA NA NA rs7245960 0.22 0.22 0.211 0.226637 0.3111 0.0228 0.2983 0.2708 0.2393 0.31 0.02 0.31 0.26 0.2948 0.33 0 D 0.001 B 0.001 B . . . . 0 N 4.04 T -0.905 T 0.000 T 0.045 -1.771 0.01 -1.55 -2.439 -1.153 3.455 -1.770807 NA 0.52 0.328868 0.265407 NA 0.268 NA 9.3985654 720 22 50988193 50988193 A G exonic KLHDC7B NA nonsynonymous SNV KLHDC7B:NM_138433:exon1:c.A1598G:p.H533R exonic ENSG00000130487 NA nonsynonymous SNV ENSG00000130487:ENST00000395676:exon1:c.A1598G:p.H533R Score=340;Name=lod=32 NA 22q13.33 Score=766;Name=V$PAX5_01 NA NA NA rs131779 0.59 0.59 0.575 0.580272 0.6421 0.5942 0.5288 0.5681 0.5552 0.64 0.59 0.53 0.57 0.6471 0.65 0.42 T 0.0 B 0.001 B 0.080 N 0.891 P -0.84 N 2.64 T -1.030 T 0.000 T 0.046 -1.807 0.009 3.31 0.244 3.906 8.307 -1.806562 NA 1 0.646301 0.58032 ID=COSM445185;OCCURENCE=1(breast) 0.551 NA 9.3978324 720 9 94495608 94495608 T C exonic ROR2 NA nonsynonymous SNV ROR2:NM_004560:exon6:c.A733G:p.T245A exonic ENSG00000169071 NA nonsynonymous SNV ENSG00000169071:ENST00000375708:exon6:c.A733G:p.T245A,ENSG00000169071:ENST00000375715:exon6:c.A313G:p.T105A Score=668;Name=lod=692 NA 9q22.31 Score=845;Name=V$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 720 17 26864302 26864302 G C exonic FOXN1 NA nonsynonymous SNV FOXN1:NM_003593:exon8:c.G1795C:p.A599P exonic ENSG00000109101 NA nonsynonymous SNV ENSG00000109101:ENST00000226247:exon8:c.G1795C:p.A599P,ENSG00000109101:ENST00000579795:exon9:c.G1795C:p.A599P NA NA 17q11.2 Score=753;Name=V$STAT3_01 NA NA NA rs532648 0.38 0.38 0.379 0.392772 0.334 0.2212 0.3862 0.6309 0.3129 0.31 0.25 0.38 0.64 0.3229 0.64 1 T 0.0 B 0.0 B 0.064 N 1.000 P -1.625 N -3.02 D -0.949 T 0.000 T 0.081 -2.392 0.003 2.18 -0.141 0.598 5.147 -2.391997 NA 1 0.281279 0.56877 NA 0.391 NA 9.3951544 721 6 33052958 33052958 C T exonic HLA-DPB1 NA nonsynonymous SNV HLA-DPB1:NM_002121:exon3:c.C596T:p.T199I exonic ENSG00000223865 NA nonsynonymous SNV ENSG00000223865:ENST00000418931:exon3:c.C596T:p.T199I,ENSG00000223865:ENST00000428835:exon3:c.C527T:p.T176I Score=435;Name=lod=78 NA 6p21.32 NA Name=Pol2-4H8 NA NA rs1042335 0.44 0.44 0.425 0.463658 0.3151 0.621 0.3314 0.5976 0.3671 0.31 0.57 0.3 0.59 0.3267 0.59 0.1 T 0.193 B 0.213 B 0.013 N 0.000 P 2.77 M 3.92 T -1.059 T 0.008 T 0.47 1.827 12.07 0.814 0.036 -0.014 5.506 1.827253 1.827253 0.07 0.296713 0.55894 NA 0.377 NA 9.3948204 721 10 123810060 123810060 G A exonic TACC2 NA synonymous SNV TACC2:NM_206861:exon3:c.G141A:p.A47A,TACC2:NM_206862:exon3:c.G141A:p.A47A exonic ENSG00000138162 NA synonymous SNV ENSG00000138162:ENST00000334433:exon2:c.G141A:p.A47A,ENSG00000138162:ENST00000358010:exon2:c.G141A:p.A47A,ENSG00000138162:ENST00000453444:exon2:c.G141A:p.A47A,ENSG00000138162:ENST00000369005:exon3:c.G141A:p.A47A,ENSG00000138162:ENST00000513429:exon3:c.G141A:p.A47A,ENSG00000138162:ENST00000515273:exon3:c.G141A:p.A47A,ENSG00000138162:ENST00000515603:exon3:c.G141A:p.A47A NA NA 10q26.13 NA NA NA NA rs11200367 0.14 0.14 0.123 0.151558 0.0785 0.1329 0.2565 0.1997 0.1063 0.08 0.13 0.21 0.18 0.1193 0.21 . . . . . . . . 1.000 P . . . . -1.002 T 0.000 T . 0.242 5.307 -6.14 -1.183 -1.091 2.577 0.242046 NA NA 0.074419 0.16069 NA 0.109 NA 9.3944476 721 11 5809746 5809746 C T exonic OR52N1 NA nonsynonymous SNV OR52N1:NM_001001913:exon1:c.G301A:p.A101T exonic ENSG00000181001 NA nonsynonymous SNV ENSG00000181001:ENST00000317078:exon1:c.G301A:p.A101T Score=478;Name=lod=117 NA 11p15.4 Score=843;Name=V$TAL1BETAE47_01 NA NA NA rs10742787 0.31 0.31 0.315 0.321885 0.332 0.2004 0.2738 0.4584 0.2863 0.33 0.19 0.26 0.44 0.3002 0.44 1 T 0.001 B 0.003 B 0.108 N 0.192 P 0.075 N 4.08 T -0.936 T 0.000 T 0.039 -1.672 0.012 1.53 -0.010 -2.069 3.905 -1.671662 NA 1 0.307146 0.431395 NA 0.333 NA 9.3939874 721 11 5809673 5809673 C T exonic OR52N1 NA nonsynonymous SNV OR52N1:NM_001001913:exon1:c.G374A:p.C125Y exonic ENSG00000181001 NA nonsynonymous SNV ENSG00000181001:ENST00000317078:exon1:c.G374A:p.C125Y Score=480;Name=lod=119 NA 11p15.4 Score=763;Name=V$PPARG_01 NA NA NA rs10769224 0.31 0.31 0.302 0.321685 0.332 0.2004 0.2738 0.4576 0.2863 0.33 0.19 0.26 0.44 0.3001 0.44 1 T 0.0 B 0.0 B 0.009 N 0.000 P -2.9 N 2.0 T -0.939 T 0.000 T 0.108 -2.438 0.003 2.13 0.018 0.193 5.157 -2.437657 NA 1 0.307263 0.430259 NA 0.333 NA 9.3939704 721 9 79946961 79946961 C T exonic VPS13A NA synonymous SNV VPS13A:NM_001018037:exon45:c.C5910T:p.Y1970Y,VPS13A:NM_001018038:exon46:c.C6027T:p.Y2009Y,VPS13A:NM_015186:exon46:c.C6027T:p.Y2009Y,VPS13A:NM_033305:exon46:c.C6027T:p.Y2009Y exonic ENSG00000197969 NA synonymous SNV ENSG00000197969:ENST00000376636:exon45:c.C5910T:p.Y1970Y,ENSG00000197969:ENST00000357409:exon46:c.C6027T:p.Y2009Y,ENSG00000197969:ENST00000360280:exon46:c.C6027T:p.Y2009Y,ENSG00000197969:ENST00000376634:exon46:c.C6027T:p.Y2009Y Score=393;Name=lod=53 NA 9q21.2 Score=806;Name=V$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 721 12 121622520 121622520 A T exonic P2RX7 NA nonsynonymous SNV P2RX7:NM_002562:exon13:c.A1703T:p.N568I exonic ENSG00000089041 NA nonsynonymous SNV ENSG00000089041:ENST00000541446:exon11:c.A836T:p.N279I,ENSG00000089041:ENST00000328963:exon12:c.A1193T:p.N398I,ENSG00000089041:ENST00000546057:exon13:c.A1703T:p.N568I,ENSG00000089041:ENST00000535250:exon14:c.A1433T:p.N478I Score=545;Name=lod=218 NA 12q24.31 Score=798;Name=V$HEN1_01 Name=CTCF NA NA rs1653624 0.99 0.99 0.991 0.994209 0.9791 1 0.9914 0.9985 1 0.98 1 0.99 1 0.9851 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.48 N 4.67 T -0.993 T 0.000 T 0.121 0.664 7.559 5.47 0.921 2.237 9.681 0.664399 NA 1 0.977156 0.995654 NA 0.949 NA 9.3919774 721 10 91007360 91007360 T G exonic LIPA NA nonsynonymous SNV LIPA:NM_000235:exon2:c.A46C:p.T16P,LIPA:NM_001127605:exon2:c.A46C:p.T16P exonic ENSG00000107798 NA nonsynonymous SNV ENSG00000107798:ENST00000428800:exon1:c.A46C:p.T16P,ENSG00000107798:ENST00000282673:exon2:c.A46C:p.T16P,ENSG00000107798:ENST00000336233:exon2:c.A46C:p.T16P,ENSG00000107798:ENST00000456827:exon2:c.A46C:p.T16P Score=329;Name=lod=29 NA 10q23.31 NA NA NA NA rs1051338 0.27 0.27 0.25 0.286142 0.327 0.3085 0.3545 0.1082 0.4131 0.34 0.29 0.33 0.11 0.3163 0.34 0.21 T 0.002 B 0.002 B . . 0.000 P 0 N -0.39 T -1.083 T 0.000 T 0.437 1.653 11.49 3.72 2.216 -0.090 7.513 1.652821 1.652821 0.15 0.298372 0.128915 NA 0.275 NA 9.3916614 721 11 58126305 58126305 A T exonic OR5B17 NA nonsynonymous SNV OR5B17:NM_001005489:exon1:c.T238A:p.L80I exonic ENSG00000197786 NA nonsynonymous SNV ENSG00000197786:ENST00000357377:exon1:c.T238A:p.L80I NA NA 11q12.1 NA NA NA NA rs4939208 0.71 0.71 0.698 0.716653 0.6312 0.8552 0.7305 0.6793 0.7025 0.63 0.83 0.75 0.65 0.6794 0.83 0.12 T 0.004 B 0.008 B 0.968 N 1.000 P 2.11 M 7.81 T -0.990 T 0.000 T 0.061 -0.004 3.995 -7.19 -1.830 -3.480 2.707 -0.00365 NA 0.22 0.633877 0.698092 NA 0.688 NA 9.3888564 721 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 721 19 9056982 9056982 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.C30464T:p.T10155I exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C30464T:p.T10155I NA NA 19p13.2 NA NA NA NA rs11670318 0.25 0.25 0.259 0.247804 0.336 0.2391 0.2161 0.1543 0.3149 0.33 0.21 0.25 0.18 0.2867 0.33 0 D 0.997 D 0.918 D . . . . 0.695 N 1.6 T -0.974 T 0.000 T 0.062 0.168 4.903 0.467 0.193 -0.151 5.071 0.1679 NA 0.03 0.323423 0.178461 NA 0.225 NA 9.3872104 721 22 43529314 43529314 G C exonic MCAT NA nonsynonymous SNV MCAT:NM_173467:exon4:c.C908G:p.A303G exonic ENSG00000100294 NA nonsynonymous SNV ENSG00000100294:ENST00000290429:exon4:c.C908G:p.A303G Score=278;Name=lod=18 NA 22q13.2 NA NA NA NA rs13815 0.55 0.55 0.503 0.489617 0.663 0.6369 0.5432 0.2216 0.4836 0.68 0.6 0.58 0.24 0.6045 0.68 0.99 T 0.0 B 0.0 B 0.000 N 0.000 P -0.76 N 1.1 T -0.960 T 0.000 T 0.089 -0.591 1.352 5.46 1.322 2.987 16.463 -0.591281 NA 1 0.679651 0.290513 NA 0.449 NA 9.3861824 722 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 722 17 28576076 28576076 T C exonic BLMH NA nonsynonymous SNV BLMH:NM_000386:exon12:c.A1327G:p.I443V exonic ENSG00000108578 NA nonsynonymous SNV ENSG00000108578:ENST00000394819:exon11:c.A1066G:p.I356V,ENSG00000108578:ENST00000261714:exon12:c.A1327G:p.I443V NA NA 17q11.2 Score=857;Name=V$GATA1_03 NA NA NA rs1050565 0.27 0.27 0.239 0.253794 0.329 0.1736 0.3746 0.1989 0.2474 0.34 0.18 0.35 0.23 0.2998 0.35 1 T 0.0 B 0.0 B 0.034 N 1.000 P -2.105 N 1.06 T -0.929 T 0.000 T 0.063 -0.85 0.549 1.54 0.080 1.148 9.463 -0.850369 NA 1 0.322209 0.213572 NA 0.203 CLINSIG=non-pathogenic;CLNDBN=BLEOMYCIN_HYDROLASE_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000007670.1;CLNDSDB=.;CLNDSDBID=. 9.3823244 722 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 722 16 23098422 23098422 A G exonic USP31 NA nonsynonymous SNV USP31:NM_020718:exon9:c.T1613C:p.I538T exonic ENSG00000103404 NA nonsynonymous SNV ENSG00000103404:ENST00000219689:exon9:c.T1613C:p.I538T NA NA 16p12.2 NA NA NA NA rs13339649 0.25 0.25 0.224 0.242013 0.333 0.1577 0.3876 0.1528 0.2526 0.33 0.18 0.34 0.16 0.3041 0.34 0.92 T 0.0 B 0.0 B 0.002 N 0.000 P -0.7 N 3.38 T -0.935 T 0.000 T 0.018 -1.15 0.103 5.16 1.194 6.345 13.027 -1.1497 NA 1 0.316163 0.178425 NA 0.13 NA 9.3800704 722 2 234602191 234602191 A G exonic UGT1A6 NA nonsynonymous SNV UGT1A6:NM_001072:exon1:c.A541G:p.T181A exonic ENSG00000167165 NA nonsynonymous SNV ENSG00000167165:ENST00000305139:exon1:c.A541G:p.T181A,ENSG00000167165:ENST00000441351:exon2:c.A541G:p.T181A NA NA 2q37.1 NA NA Name=3 NA rs2070959 0.27 0.27 0.269 0.277556 0.3101 0.1964 0.2233 0.239 0.4182 0.31 0.23 0.27 0.24 0.3133 0.33 0.61 T 0.0 B 0.001 B . . 1.000 P -0.085 N 0.28 T -1.021 T 0.000 T 0.016 -1.476 0.018 -9.43 -1.892 -0.930 11.548 -1.475651 NA 0.11 0.331628 0.251929 NA 0.42 NA 9.3783054 722 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 722 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 722 2 18113623 18113623 A G exonic KCNS3 NA nonsynonymous SNV KCNS3:NM_002252:exon3:c.A1348G:p.T450A exonic ENSG00000170745 NA nonsynonymous SNV ENSG00000170745:ENST00000304101:exon3:c.A1348G:p.T450A,ENSG00000170745:ENST00000403915:exon3:c.A1348G:p.T450A Score=340;Name=lod=32 NA 2p24.2 NA NA NA NA rs4832524 0.76 0.76 0.752 0.796126 0.6074 0.9831 0.8098 0.7383 0.8661 0.62 0.98 0.76 0.72 0.712 0.98 1 T 0.0 B 0.0 B 0.018 N 1.000 P -0.69 N -4.14 D -0.934 T 0.000 T 0.008 -1.227 0.06 3.9 0.835 3.596 5.325 -1.226797 NA 0.72 0.63686 0.722424 NA 0.754 NA 9.3770734 722 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 722 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 722 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 722 19 1811603 1811603 C T exonic ATP8B3 NA nonsynonymous SNV ATP8B3:NM_138813:exon2:c.G133A:p.G45R exonic ENSG00000130270 NA nonsynonymous SNV ENSG00000130270:ENST00000310127:exon2:c.G133A:p.G45R,ENSG00000130270:ENST00000531925:exon2:c.G133A:p.G45R,ENSG00000130270:ENST00000539485:exon2:c.G133A:p.G45R,ENSG00000130270:ENST00000587160:exon2:c.G133A:p.G45R NA Name=Bipolar disorder 19p13.3 NA Name=Pol2-4H8,eGFP-JunB,c-Jun,Pol2(phosphoS2),Pol2,FOSL2,Ini1,eGFP-FOS,c-Fos,Pol2(b),JunD,SMC3_(ab9263),eGFP-JunD,FOSL1_(SC-183) Name=102 NA rs7250872 0.39 0.39 0.381 0.396166 0.3141 0.374 0.4481 0.5068 0.317 0.32 0.39 0.41 0.5 0.3454 0.5 0.08 T 0.013 B 0.003 B . . 1.000 P 0 N -0.84 T -0.954 T 0.000 T 0.119 2.354 13.83 1.37 0.589 -0.497 5.166 2.353566 2.353566 0 0.298333 0.457129 NA 0.333 NA 9.3755004 723 17 70943990 70943990 T C exonic SLC39A11 NA nonsynonymous SNV SLC39A11:NM_001159770:exon5:c.A331G:p.T111A,SLC39A11:NM_139177:exon5:c.A331G:p.T111A exonic ENSG00000133195 NA nonsynonymous SNV ENSG00000133195:ENST00000582769:exon2:c.A58G:p.T20A,ENSG00000133195:ENST00000584129:exon2:c.A58G:p.T20A,ENSG00000133195:ENST00000255559:exon5:c.A331G:p.T111A,ENSG00000133195:ENST00000542342:exon5:c.A331G:p.T111A,ENSG00000133195:ENST00000579732:exon5:c.A331G:p.T111A,ENSG00000133195:ENST00000580557:exon5:c.A331G:p.T111A,ENSG00000133195:ENST00000583146:exon5:c.A331G:p.T111A Score=441;Name=lod=83 NA 17q25.1 Score=809;Name=V$RREB1_01 NA NA NA rs2466517 0.91 0.91 0.904 0.88758 0.997 0.9901 0.9452 0.6142 0.998 1 1 0.94 0.66 0.9668 1 0.78 T 0.0 B 0.001 B 0.004 N 1.000 P -0.55 N -0.96 T -0.956 T 0.000 T 0.263 1.392 10.59 4.62 0.953 2.562 8.939 1.391674 1.391674 1 0.995233 0.69655 NA 0.848 NA 9.3743004 723 14 52496387 52496387 C A exonic NID2 NA nonsynonymous SNV NID2:NM_007361:exon10:c.G2279T:p.G760V exonic ENSG00000087303 NA nonsynonymous SNV ENSG00000087303:ENST00000216286:exon10:c.G2279T:p.G760V,ENSG00000087303:ENST00000541773:exon11:c.G2120T:p.G707V Score=455;Name=lod=94 NA 14q22.1 NA NA NA NA rs2273430 0.93 0.93 0.913 0.91893 0.992 0.9683 0.9769 0.7481 0.9826 0.99 0.97 0.98 0.75 0.9742 0.99 0.3 T 0.0 B 0.0 B 0.003 N 0.139 P -2.975 N -1.62 D -0.903 T 0.000 T 0.413 0.269 5.453 4.53 0.993 1.264 8.661 0.268728 NA 0.71 0.993488 0.811621 NA 0.891 NA 9.3736454 723 1 158736445 158736445 C T exonic OR6N1 NA nonsynonymous SNV OR6N1:NM_001005185:exon1:c.G28A:p.A10T exonic ENSG00000197403 NA nonsynonymous SNV ENSG00000197403:ENST00000335094:exon1:c.G28A:p.A10T Score=425;Name=lod=71 NA 1q23.1 Score=831;Name=V$RFX1_01 NA NA NA rs1864346 0.28 0.28 0.246 0.246206 0.334 0.4246 0.3314 0.0182 0.2198 0.33 0.42 0.32 0.03 0.3058 0.42 1 T 0.0 B 0.0 B 0.044 N 1.000 P -2.035 N 6.26 T -1.092 T 0.000 T 0.042 -0.481 1.784 2.52 0.040 -0.296 3.436 -0.481159 NA 1 0.320465 0.06355 NA 0.217 NA 9.3730684 723 15 45408414 45408414 C G exonic DUOXA2 NA nonsynonymous SNV DUOXA2:NM_207581:exon3:c.C298G:p.R100G exonic ENSG00000140274 NA nonsynonymous SNV ENSG00000140274:ENST00000323030:exon3:c.C298G:p.R100G Score=358;Name=lod=38 NA 15q21.1 Score=822;Name=V$MYCMAX_03 NA NA NA rs2576090 0.89 0.89 0.863 0.858427 1 1 0.964 0.4826 1 1 1 0.96 0.56 0.9621 1 1 T 0.0 B 0.0 B 0.000 N 0.988 P -2.905 N 2.11 T -0.939 T 0.000 T 0.119 -0.479 1.795 5.38 1.293 7.363 15.397 -0.478595 NA 1 0.999397 0.583918 NA 0.899 NA 9.3718364 723 22 43610207 43610207 A G exonic SCUBE1 NA nonsynonymous SNV SCUBE1:NM_173050:exon16:c.T1942C:p.S648P exonic ENSG00000159307 NA nonsynonymous SNV ENSG00000159307:ENST00000360835:exon16:c.T1942C:p.S648P Score=415;Name=lod=65 NA 22q13.2 NA NA NA NA rs138993 0.44 0.44 0.421 0.434505 0.6789 0.0784 0.5865 0.3797 0.5164 0.65 0.1 0.6 0.38 0.5931 0.69 0.8 T 0.0 B 0.0 B 0.000 N 0.000 P -1.06 N 2.7 T -1.014 T 0.000 T 0.045 -0.52 1.626 3.81 0.958 4.576 11.924 -0.520336 NA 1 0.689651 0.443486 ID=COSM445091;OCCURENCE=1(breast) 0.565 NA 9.3716824 723 12 57865821 57865821 G C exonic GLI1 NA nonsynonymous SNV GLI1:NM_001160045:exon10:c.G2914C:p.E972Q,GLI1:NM_001167609:exon11:c.G3175C:p.E1059Q,GLI1:NM_005269:exon12:c.G3298C:p.E1100Q exonic ENSG00000111087 NA nonsynonymous SNV ENSG00000111087:ENST00000528467:exon10:c.G3175C:p.E1059Q,ENSG00000111087:ENST00000543426:exon10:c.G2914C:p.E972Q,ENSG00000111087:ENST00000546141:exon11:c.G3175C:p.E1059Q,ENSG00000111087:ENST00000228682:exon12:c.G3298C:p.E1100Q Score=622;Name=lod=449 NA 12q13.3 NA NA NA NA rs2228226 0.6 0.6 0.653 0.586262 0.674 0.3958 0.4755 0.7882 0.498 0.67 0.38 0.51 0.81 0.6061 0.81 0.4 T 0.0 B 0.0 B 0.001 N 1.000 P -1.1 N 2.99 T -1.052 T 0.000 T 0.137 -0.663 1.093 4.69 1.603 2.147 10.007 -0.663397 NA 1 0.68186 0.770313 NA 0.652 NA 9.3713734 723 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 723 1 26694245 26694245 T C exonic ZNF683 NA nonsynonymous SNV ZNF683:NM_001114759:exon3:c.A158G:p.H53R,ZNF683:NM_173574:exon3:c.A158G:p.H53R exonic ENSG00000176083 NA nonsynonymous SNV ENSG00000176083:ENST00000349618:exon3:c.A158G:p.H53R,ENSG00000176083:ENST00000374204:exon3:c.A158G:p.H53R,ENSG00000176083:ENST00000403843:exon3:c.A158G:p.H53R,ENSG00000176083:ENST00000423508:exon3:c.A182G:p.H61R,ENSG00000176083:ENST00000436292:exon3:c.A158G:p.H53R,ENSG00000176083:ENST00000451801:exon3:c.A158G:p.H53R,ENSG00000176083:ENST00000455900:exon3:c.A182G:p.H61R,ENSG00000176083:ENST00000416125:exon4:c.A158G:p.H53R NA NA 1p36.11 Score=802;Name=V$BACH1_01 NA NA NA rs10794531 0.45 0.45 0.425 0.493011 0.2863 0.623 0.3228 0.5862 0.5665 0.29 0.62 0.34 0.59 0.3934 0.62 0.47 T 0.014 B 0.004 B 0.023 N 1.000 P 0.145 N 3.26 T -0.974 T 0.000 T 0.171 1.932 12.42 -3.22 -0.382 -1.175 5.429 1.931565 1.931565 0.14 0.283221 0.519065 NA 0.435 NA 9.3704124 723 1 156784982 156784982 T C exonic SH2D2A NA nonsynonymous SNV SH2D2A:NM_001161443:exon2:c.A71G:p.N24S,SH2D2A:NM_001161441:exon3:c.A155G:p.N52S,SH2D2A:NM_001161442:exon3:c.A101G:p.N34S,SH2D2A:NM_001161444:exon3:c.A155G:p.N52S,SH2D2A:NM_003975:exon3:c.A155G:p.N52S exonic ENSG00000027869 NA nonsynonymous SNV ENSG00000027869:ENST00000368198:exon3:c.A101G:p.N34S,ENSG00000027869:ENST00000368199:exon3:c.A155G:p.N52S,ENSG00000027869:ENST00000392306:exon3:c.A155G:p.N52S NA NA 1q23.1 NA Name=Ini1 NA NA rs926103 0.62 0.62 0.573 0.59365 0.662 0.8155 0.6297 0.3192 0.6401 0.66 0.81 0.65 0.31 0.6612 0.81 0.92 T 0.0 B 0.0 B 0.001 N 1.000 P 0 N 1.01 T -1.042 T 0.014 T 0.001 -1.101 0.142 -9.87 -2.789 -1.442 0.994 -1.101109 NA 0.81 0.640116 0.38266 ID=COSM1472774,COSM424151;OCCURENCE=1(breast) 0.507 NA 9.3700174 723 6 42713618 42713618 A G exonic TBCC NA nonsynonymous SNV TBCC:NM_003192:exon1:c.T194C:p.V65A exonic ENSG00000124659 NA nonsynonymous SNV ENSG00000124659:ENST00000372876:exon1:c.T194C:p.V65A,ENSG00000124659:ENST00000244625:exon2:c.T194C:p.V65A Score=631;Name=lod=488 NA 6p21.1 NA Name=NFKB,HMGN3,HA-E2F1,Pol2,ZNF263,CCNT2,Pol2(b),NRSF NA NA rs2234026 0.99 0.99 0.991 0.996406 0.9881 1 0.9928 0.9992 1 0.99 1 0.99 1 0.9889 1 0.82 T 0.0 B 0.0 B 0.005 N 1.000 P -1.67 N 2.65 T -0.924 T 0.003 T 0.033 -0.439 1.961 4.1 1.267 1.850 9.844 -0.438825 NA 1 0.98686 0.997276 NA 0.971 NA 9.3694734 723 X 138897130 138897130 A C exonic ATP11C NA nonsynonymous SNV ATP11C:NM_001010986:exon5:c.T342G:p.C114W,ATP11C:NM_173694:exon5:c.T342G:p.C114W exonic ENSG00000101974 NA nonsynonymous SNV ENSG00000101974:ENST00000327569:exon5:c.T342G:p.C114W,ENSG00000101974:ENST00000359686:exon5:c.T342G:p.C114W,ENSG00000101974:ENST00000361648:exon5:c.T342G:p.C114W,ENSG00000101974:ENST00000370543:exon5:c.T342G:p.C114W,ENSG00000101974:ENST00000370557:exon5:c.T333G:p.C111W Score=584;Name=lod=316 NA Xq27.1 NA NA NA NA rs2491014 0.99 0.99 0.9841 NA NA NA NA NA NA 0.97 1 0.99 1 0.9863 1 1 T 0.0 B 0.0 B 0.000 N 0.077 P -3.15 N -1.0 T -0.945 T 0.000 T 0.345 -0.189 3.082 4.29 0.971 5.222 10.717 -0.188846 NA 1 0.977841 0.99713 NA 0.746 NA 9.3691924 723 6 31080016 31080016 C G exonic C6orf15 NA nonsynonymous SNV C6orf15:NM_014070:exon2:c.G120C:p.L40F exonic ENSG00000204542 NA nonsynonymous SNV ENSG00000204542:ENST00000259870:exon2:c.G120C:p.L40F NA NA 6p21.33 NA NA NA NA rs2233974 0.11 0.11 0.118 0.105232 0.1461 0.0466 0.1066 0.1218 0.1002 0.15 0.03 0.12 0.14 0.1387 0.18 0.13 T 0.99 D 0.858 P 0.482 N 1.000 P 1.61 L 3.22 T -1.046 T 0.021 T 0.052 2.358 13.84 2.65 0.492 -0.062 6.734 2.357554 2.357554 0.22 0.179502 0.131652 NA 0.181 NA 9.3690314 723 21 45725746 45725746 C T intronic PFKL NA NA NA exonic ENSG00000141959 NA stopgain ENSG00000141959:ENST00000403390:exon2:c.C154T:p.R52X NA NA 21q22.3 NA Name=PU.1 Name=11 NA rs118169148 0.02 0.02 0.024 0.0173722 0.0467 NA 0.0303 0.0038 0.0143 0.05 NA 0.03 0.002 0.0353 0.05 1 T . . . . 0.811 U 1.000 A . . . . . . . . . 2.275 13.56 -0.371 -0.127 -0.346 3.940 2.275044 2.275044 1 0.049442 0.007955 NA 0.014 NA 9.368558 723 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 723 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 723 20 18393312 18393312 C G exonic DZANK1 NA synonymous SNV DZANK1:NM_001099407:exon13:c.G1410C:p.L470L exonic ENSG00000089091 NA synonymous SNV ENSG00000089091:ENST00000377630:exon12:c.G909C:p.L303L,ENSG00000089091:ENST00000262547:exon13:c.G1410C:p.L470L,ENSG00000089091:ENST00000329494:exon14:c.G1416C:p.L472L,ENSG00000089091:ENST00000357236:exon14:c.G1068C:p.L356L Score=489;Name=lod=130 NA 20p11.23 Score=729;Name=V$PAX4_04 Name=Pol2,PU.1 Name=7 NA rs6075337 0.59 0.59 0.611 0.629593 0.7992 0.3095 0.6441 0.6029 0.8108 0.79 0.34 0.64 0.55 0.7135 0.79 . . . . . . . . 0.000 P . . . . . . . . . -0.484 1.772 4.73 0.770 0.831 11.111 -0.484086 NA NA 0.786788 0.651132 NA 0.652 NA 9.3671786 723 6 24489652 24489652 C T exonic GPLD1 NA nonsynonymous SNV GPLD1:NM_001503:exon1:c.G88A:p.V30I exonic ENSG00000112293 NA nonsynonymous SNV ENSG00000112293:ENST00000230036:exon1:c.G88A:p.V30I NA NA 6p22.3 NA NA NA NA rs1126617 0.28 0.28 0.27 0.26857 0.332 0.1667 0.2089 0.3139 0.2894 0.34 0.19 0.26 0.3 0.2995 0.34 1 T 0.008 B 0.01 B 0.188 N 1.000 P -0.74 N 1.12 T -1.016 T 0.010 T 0.047 -2.053 0.006 -6.76 -1.433 -0.977 14.647 -2.052583 NA 0.99 0.336047 0.310259 NA 0.355 NA 9.3657864 724 7 134849280 134849280 T A exonic TMEM140 NA nonsynonymous SNV TMEM140:NM_018295:exon2:c.T87A:p.F29L exonic ENSG00000146859 NA nonsynonymous SNV ENSG00000146859:ENST00000275767:exon2:c.T87A:p.F29L Score=346;Name=lod=34 NA 7q33 Score=749;Name=V$MYOGNF1_01 Name=Pol2,CTCF Name=26 NA rs292501 0.93 0.93 0.92 0.910942 0.996 0.9901 0.9712 0.6989 0.9857 1 0.98 0.97 0.73 0.9749 1 1 T 0.012 B 0.016 B 0.049 N 0.000 P 1.67 L 2.21 T -0.857 T 0.000 T 0.187 0.271 5.468 3.87 0.341 0.015 4.954 0.271414 NA 1 0.997907 0.784385 NA 0.899 NA 9.3645264 724 12 101776996 101776996 G C exonic UTP20 NA nonsynonymous SNV UTP20:NM_014503:exon59:c.G7834C:p.E2612Q exonic ENSG00000120800 NA nonsynonymous SNV ENSG00000120800:ENST00000261637:exon59:c.G7834C:p.E2612Q NA NA 12q23.2 NA NA NA NA rs1061436 0.09 0.09 0.091 0.086861 0.165 0.0278 0.1153 0.0182 0.1401 0.17 0.03 0.13 0.02 0.1377 0.17 0.54 T 0.514 P 0.059 B 0.139 N 1.000 P 1.7 L 3.52 T -0.937 T 0.000 T 0.032 1.836 12.1 2.43 0.657 2.618 10.166 1.836371 1.836371 0.46 0.166512 0.038357 NA 0.138 NA 9.3641214 724 11 121032978 121032978 G A exonic TECTA NA nonsynonymous SNV TECTA:NM_005422:exon15:c.G5171A:p.S1724N exonic ENSG00000109927 NA nonsynonymous SNV ENSG00000109927:ENST00000264037:exon15:c.G5171A:p.S1724N,ENSG00000109927:ENST00000392793:exon16:c.G5171A:p.S1724N Score=621;Name=lod=447 NA 11q23.3 Score=847;Name=V$FAC1_01 NA NA NA rs526433 1 1 0.997 0.996805 0.9881 1 0.9986 0.9985 0.999 0.99 1 1 1 0.9927 1 0.75 T 0.0 B 0.0 B 0.000 N 0.999 P -0.55 N -1.06 T -0.948 T 0.000 T 0.048 0.492 6.668 5.54 0.932 5.901 11.584 0.49175 NA 1 0.9893 0.997503 NA 0.993 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038501.1;CLNDSDB=.;CLNDSDBID=. 9.3632334 724 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 724 2 99226173 99226173 T A intronic UNC50 NA NA NA exonic ENSG00000115446 NA nonsynonymous SNV ENSG00000115446:ENST00000409975:exon1:c.T2A:p.M1K,ENSG00000115446:ENST00000409347:exon2:c.T2A:p.M1K NA NA 2q11.2 NA NA NA NA rs1062847 0.28 0.28 0.25 0.285743 0.2714 0.3125 0.3026 0.2436 0.318 0.27 0.3 0.3 0.26 0.2688 0.3 0 D . . . . . . 0.000 P . . . . -1.001 T 0.000 T 0.094 1.12 9.566 -3.61 -1.290 -2.283 1.167 1.119693 NA 0 0.264651 0.258284 NA 0.203 NA 9.3618157 724 10 33623251 33623251 G A exonic NRP1 NA synonymous SNV NRP1:NM_001024628:exon1:c.C60T:p.G20G,NRP1:NM_001024629:exon1:c.C60T:p.G20G,NRP1:NM_001244972:exon1:c.C60T:p.G20G,NRP1:NM_001244973:exon1:c.C60T:p.G20G,NRP1:NM_003873:exon1:c.C60T:p.G20G exonic ENSG00000099250 NA synonymous SNV ENSG00000099250:ENST00000374816:exon1:c.C60T:p.G20G,ENSG00000099250:ENST00000374821:exon1:c.C60T:p.G20G,ENSG00000099250:ENST00000374822:exon1:c.C60T:p.G20G,ENSG00000099250:ENST00000374823:exon1:c.C60T:p.G20G,ENSG00000099250:ENST00000374867:exon1:c.C60T:p.G20G,ENSG00000099250:ENST00000395995:exon1:c.C60T:p.G20G,ENSG00000099250:ENST00000265371:exon2:c.C60T:p.G20G Score=410;Name=lod=62 NA 10p11.22 Score=772;Name=V$AHRARNT_02 Name=HA-E2F1,Pol2,CtBP2 Name=105 NA rs3750733 0.1 0.1 0.089 0.124401 0.0885 0.2143 0.0865 0.0378 0.2127 0.1 0.17 0.06 0.04 0.1527 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.268837 1.268837 NA 0.063929 0.038765 NA 0.087 NA 9.3615376 724 13 113733009 113733009 C T exonic MCF2L NA synonymous SNV MCF2L:NM_001112732:exon15:c.C1764T:p.R588R,MCF2L:NM_024979:exon15:c.C1758T:p.R586R exonic ENSG00000126217 NA synonymous SNV ENSG00000126217:ENST00000375597:exon15:c.C1758T:p.R586R,ENSG00000126217:ENST00000375601:exon15:c.C1776T:p.R592R,ENSG00000126217:ENST00000375604:exon15:c.C1935T:p.R645R,ENSG00000126217:ENST00000397030:exon15:c.C1863T:p.R621R,ENSG00000126217:ENST00000421756:exon15:c.C1776T:p.R592R,ENSG00000126217:ENST00000423482:exon15:c.C1758T:p.R586R,ENSG00000126217:ENST00000434480:exon15:c.C1782T:p.R594R,ENSG00000126217:ENST00000442652:exon15:c.C1854T:p.R618R,ENSG00000126217:ENST00000535094:exon15:c.C1764T:p.R588R,ENSG00000126217:ENST00000375608:exon16:c.C1854T:p.R618R NA NA 13q34 NA NA NA NA rs35155188 0.06 0.06 0.057 0.0640974 0.1014 0.005 0.072 0.0651 0.0798 0.1 0.01 0.07 0.08 0.0997 0.11 0.01 D . . . . 0.000 D 1.000 P . . 0.94 T -1.053 T 0.003 T . -0.88 0.481 2.25 0.944 -0.015 2.654 -0.879868 NA NA 0.105141 0.074545 NA 0.036 NA 9.3604256 724 2 220422774 220422774 A G exonic OBSL1 NA synonymous SNV OBSL1:NM_001173431:exon11:c.T3561C:p.P1187P,OBSL1:NM_015311:exon11:c.T3561C:p.P1187P exonic ENSG00000124006 NA synonymous SNV ENSG00000124006:ENST00000265317:exon3:c.T534C:p.P178P,ENSG00000124006:ENST00000265318:exon10:c.T3285C:p.P1095P,ENSG00000124006:ENST00000373876:exon11:c.T3561C:p.P1187P,ENSG00000124006:ENST00000404537:exon11:c.T3561C:p.P1187P,ENSG00000124006:ENST00000603926:exon11:c.T3561C:p.P1187P NA NA 2q35 Score=730;Name=V$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 724 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,Pol2,CTCF_(C-20),CTCF_(SC-5916),Rad21,SMC3_(ab9263) 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 724 19 17716896 17716896 G T exonic UNC13A NA synonymous SNV UNC13A:NM_001080421:exon42:c.C5079A:p.S1693S exonic ENSG00000130477 NA synonymous SNV ENSG00000130477:ENST00000550896:exon40:c.C4998A:p.S1666S,ENSG00000130477:ENST00000552293:exon42:c.C5061A:p.S1687S,ENSG00000130477:ENST00000252773:exon43:c.C5079A:p.S1693S,ENSG00000130477:ENST00000519716:exon44:c.C5079A:p.S1693S,ENSG00000130477:ENST00000428389:exon45:c.C5343A:p.S1781S,ENSG00000130477:ENST00000551649:exon45:c.C5136A:p.S1712S Score=725;Name=lod=1181 NA 19p13.11 Score=912;Name=V$AHRARNT_01 Name=ZNF263,Pol2(b),eGFP-JunD,SETDB1,Mxi1_(bHLH),YY1_(C-20),Max,Nrf1,HEY1,KAP1,TAF1,Pol2-4H8,GABP,Ini1,E2F6_(H-50),CTCF,E2F6,USF-1,Pol2 Name=138 NA rs3746198 0.09 0.09 0.088 0.0950479 0.0984 0.0179 0.0548 0.2171 0.0348 0.09 0.03 0.06 0.18 0.1314 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.157548 NA NA 0.080215 0.166221 NA 0.022 NA 9.3566516 724 2 172411273 172411273 G A exonic CYBRD1 NA nonsynonymous SNV CYBRD1:NM_001256909:exon4:c.G623A:p.S208N,CYBRD1:NM_024843:exon4:c.G797A:p.S266N exonic ENSG00000071967 NA nonsynonymous SNV ENSG00000071967:ENST00000321348:exon4:c.G797A:p.S266N,ENSG00000071967:ENST00000409484:exon4:c.G623A:p.S208N Score=389;Name=lod=51 NA 2q31.1 NA NA NA NA rs10455 0.65 0.65 0.656 0.683107 0.666 0.3958 0.6009 0.9327 0.7178 0.69 0.38 0.64 0.91 0.6517 0.91 0.64 T 0.0 B 0.001 B 0.315 N 0.165 P 0.28 N 0.4 T -0.926 T 0.000 T 0.009 0.215 5.162 -3.33 -1.628 -1.717 20.026 0.215404 NA 0.56 0.659302 0.879483 NA 0.717 NA 9.3563314 724 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 725 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 725 11 65788072 65788072 C T exonic CATSPER1 NA nonsynonymous SNV CATSPER1:NM_053054:exon7:c.G1954A:p.V652I exonic ENSG00000175294 NA nonsynonymous SNV ENSG00000175294:ENST00000312106:exon7:c.G1954A:p.V652I Score=523;Name=lod=178 NA 11q13.1 NA NA Name=3 NA rs3814747 0.93 0.93 0.935 0.936502 1 0.8859 0.9755 0.8616 0.9969 1 0.88 0.97 0.87 0.9796 1 0.76 T 0.147 B 0.02 B 0.160 N 1.000 P 0.435 N -5.0 D -0.941 T 0.000 T 0.08 1.403 10.63 3.54 0.288 1.350 6.534 1.402778 1.402778 0.47 0.999418 0.890227 NA 0.949 NA 9.3543154 725 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 725 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 725 6 99817601 99817601 A G exonic COQ3 NA nonsynonymous SNV COQ3:NM_017421:exon7:c.T985C:p.Y329H exonic ENSG00000132423 NA nonsynonymous SNV ENSG00000132423:ENST00000369240:exon3:c.T301C:p.Y101H,ENSG00000132423:ENST00000369242:exon6:c.T301C:p.Y101H,ENSG00000132423:ENST00000254759:exon7:c.T985C:p.Y329H Score=506;Name=lod=152 NA 6q16.2 NA NA Name=3 NA rs4144164 0.95 0.95 0.942 0.949081 0.998 1 0.9856 0.8162 1 1 1 0.98 0.8 0.9844 1 1 T 0.0 B 0.0 B 0.000 N 0.999 P -1.745 N 2.13 T -0.976 T 0.007 T 0.155 0.353 5.917 5.08 1.291 4.794 14.113 0.353219 NA 1 0.999535 0.830912 NA 0.957 NA 9.3513984 725 1 94639447 94639447 C T exonic ARHGAP29 NA nonsynonymous SNV ARHGAP29:NM_004815:exon23:c.G3764A:p.G1255D exonic ENSG00000137962 NA nonsynonymous SNV ENSG00000137962:ENST00000260526:exon23:c.G3764A:p.G1255D Score=542;Name=lod=212 NA 1p22.1 Score=829;Name=V$CHOP_01 NA NA NA rs1999272 0.95 0.95 0.941 0.94389 0.998 1 0.9827 0.798 1 1 1 0.98 0.79 0.9849 1 0.38 T 0.0 B 0.0 B 0.001 N 0.000 P -1.445 N 2.18 T -0.947 T 0.005 T 0.076 -0.237 2.858 4.69 1.057 1.988 7.524 -0.236897 NA 0.03 0.999186 0.836813 NA 0.949 NA 9.3512474 725 20 24973247 24973247 C A exonic APMAP NA synonymous SNV APMAP:NM_020531:exon1:c.G78T:p.P26P exonic ENSG00000101474 NA synonymous SNV ENSG00000101474:ENST00000217456:exon1:c.G78T:p.P26P,ENSG00000101474:ENST00000447138:exon1:c.G78T:p.P26P Score=346;Name=lod=34 NA 20p11.21 NA Name=TBP,NRSF,Sin3Ak-20,Pol2-4H8,EBF1_(C-8),NFKB,RFX5_(N-494),TAF1,HEY1,Pol2(phosphoS2),Pol2 NA NA rs11550623 0.06 0.06 0.049 0.066893 0.0825 0.003 0.0548 0.0915 0.092 0.08 0.0017 0.05 0.1 0.1488 0.1 . . . . . . . . 1.000 D . . . . -1.116 T 0.005 T . 2.045 12.79 0.184 -0.017 0.130 3.423 2.04461 2.04461 NA 0.08454 0.08497 NA 0.065 NA 9.3508266 725 11 193112 193112 C T exonic LOC653486,SCGB1C1 NA nonsynonymous SNV LOC653486:NM_001097610:exon1:c.C13T:p.R5C,SCGB1C1:NM_145651:exon1:c.C13T:p.R5C exonic ENSG00000188076 NA nonsynonymous SNV ENSG00000188076:ENST00000342878:exon1:c.C13T:p.R5C NA NA 11p15.5 NA NA NA NA rs7951297 0.26 0.26 0.211 0.266174 0.3569 0.2411 0.2709 0.1899 0.2986 0.32 0.24 0.28 0.19 0.3043 0.32 0.17 T 0.0 B 0.0 B 0.867 N 1.000 N . . 1.9 T -0.945 T 0.000 T 0.028 0.195 5.048 -7.44 -1.580 -1.404 1.826 0.194586 NA 0.1 0.321521 0.177434 NA 0.196 NA 9.3506124 725 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 725 1 46655158 46655158 T C exonic POMGNT1 NA nonsynonymous SNV POMGNT1:NM_001243766:exon21:c.A1867G:p.M623V,POMGNT1:NM_017739:exon21:c.A1867G:p.M623V exonic ENSG00000085998 NA nonsynonymous SNV ENSG00000085998:ENST00000535522:exon20:c.A1801G:p.M601V,ENSG00000085998:ENST00000371984:exon21:c.A1867G:p.M623V,ENSG00000085998:ENST00000371986:exon21:c.A1867G:p.M623V,ENSG00000085998:ENST00000371992:exon21:c.A1867G:p.M623V Score=656;Name=lod=617 NA 1p34.1 NA NA NA NA rs6659553 0.95 0.95 0.941 0.942492 1 1 0.987 0.789 1 1 1 0.99 0.79 0.9838 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.015 N -1.76 D -0.926 T 0.000 T 0.43 0.837 8.378 5.92 1.519 5.756 15.028 0.836895 NA 1 0.999419 0.827735 NA 0.928 NA 9.3501144 725 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 725 12 53693533 53693533 A C exonic C12orf10 NA nonsynonymous SNV C12orf10:NM_021640:exon1:c.A12C:p.Q4H exonic ENSG00000139637 NA nonsynonymous SNV ENSG00000139637:ENST00000267103:exon1:c.A12C:p.Q4H NA NA 12q13.13 NA Name=SRF,Max,YY1_(C-20),SREBP1,ERalpha_a,Mxi1_(bHLH),Sin3Ak-20,YY1,PU.1,HNF4A_(H-171),ELK4,TR4,BAF155,ZNF263,GTF2F1_(RAP-74),HA-E2F1,Pol2,FOSL2,Pol2(phosphoS2),TCF12,Pol2-4H8,GABP,RFX5_(N-494),TAF1,BCLAF1_(M33-P5B11),HEY1,HNF4A,ELF1_(SC-631),ETS1,HNF4G_(SC-6558) Name=146 NA rs1534283 0.94 0.94 0.932 0.949681 1 1 0.9914 0.8139 1 0.99 1 0.98 0.77 0.9845 1 0.17 T 0.0 B 0.0 B 0.111 N 0.997 P 0 N 0.95 T -1.037 T 0.000 T 0.011 1.436 10.74 -4.55 -1.642 -1.604 3.142 1.436401 1.436401 0.03 0.999535 0.82365 NA NA NA 9.3492984 725 1 2488153 2488153 A G exonic TNFRSF14 NA nonsynonymous SNV TNFRSF14:NM_003820:exon1:c.A50G:p.K17R exonic ENSG00000157873 NA nonsynonymous SNV ENSG00000157873:ENST00000355716:exon1:c.A50G:p.K17R,ENSG00000157873:ENST00000409119:exon2:c.A50G:p.K17R,ENSG00000157873:ENST00000426449:exon2:c.A50G:p.K17R,ENSG00000157873:ENST00000434817:exon2:c.A50G:p.K17R,ENSG00000157873:ENST00000435221:exon2:c.A50G:p.K17R,ENSG00000157873:ENST00000451778:exon2:c.A50G:p.K17R NA NA 1p36.32 NA Name=PU.1,Pol2-4H8,TAF1,Pol2 Name=101 NA rs4870 0.55 0.55 0.54 0.614816 0.4682 0.5397 0.5303 0.7837 0.6748 0.47 0.48 0.53 0.74 0.5443 0.74 0.43 T 0.61 P 0.159 B . . 1.000 P 1.61 L -2.17 D -0.931 T 0.000 T 0.176 1.438 10.75 -1.09 -0.205 -0.251 7.533 1.437826 1.437826 0.09 0.47197 0.726342 NA 0.616 NA 9.3488634 725 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 725 20 36845738 36845738 C T exonic KIAA1755 NA nonsynonymous SNV KIAA1755:NM_001029864:exon13:c.G2818A:p.E940K exonic ENSG00000149633 NA nonsynonymous SNV ENSG00000149633:ENST00000435901:exon6:c.G715A:p.E239K,ENSG00000149633:ENST00000279024:exon13:c.G2818A:p.E940K NA NA 20q11.23 Score=800;Name=V$ER_Q6 NA NA NA rs760998 0.35 0.35 0.342 0.336462 0.2982 0.5188 0.3429 0.2504 0.2996 0.31 0.49 0.33 0.25 0.3722 0.49 1 T 0.0 B 0.0 B 0.096 N 1.000 P -2.015 N 3.53 T -0.918 T 0.000 T 0.116 -0.591 1.353 3.46 0.271 2.366 5.903 -0.590772 NA 0.86 0.315233 0.254087 ID=COSM443786;OCCURENCE=1(breast) 0.348 NA 9.3477004 725 1 22846709 22846709 G A exonic ZBTB40 NA nonsynonymous SNV ZBTB40:NM_014870:exon14:c.G2989A:p.V997M,ZBTB40:NM_001083621:exon15:c.G2989A:p.V997M exonic ENSG00000184677 NA nonsynonymous SNV ENSG00000184677:ENST00000374651:exon12:c.G2653A:p.V885M,ENSG00000184677:ENST00000375647:exon14:c.G2989A:p.V997M,ENSG00000184677:ENST00000404138:exon15:c.G2989A:p.V997M Score=528;Name=lod=186 NA 1p36.12 Score=897;Name=V$NMYC_01 NA NA NA rs209720 1 1 1 0.998403 0.994 1 0.9971 1 1 0.99 1 1 1 0.997 1 0.3 T 0.001 B 0.001 B 0.000 N 1.000 P -0.105 N 3.53 T -0.944 T 0.000 T 0.085 0.539 6.919 5.79 1.023 2.300 8.282 0.539123 NA 1 0.994651 0.998865 NA 1 NA 9.3476824 725 10 33495267 33495267 C T intronic NRP1 NA NA NA exonic ENSG00000099250 NA nonsynonymous SNV ENSG00000099250:ENST00000374816:exon11:c.G1774A:p.D592N NA NA 10p11.22 NA NA NA NA rs11812166 0.33 0.33 0.294 0.331869 0.2455 0.6002 0.4294 0.1067 0.3793 0.23 0.62 0.37 0.13 0.3084 0.62 0.37 T . . . . . . 0.002 P . . -2.53 D -0.893 T 0.000 T 0.023 0.993 9.054 4.01 1.303 1.072 9.009 0.992916 NA 0.11 0.265445 0.155251 NA 0.297 NA 9.3473217 725 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 725 1 156526444 156526444 T C exonic IQGAP3 NA nonsynonymous SNV IQGAP3:NM_178229:exon12:c.A1171G:p.R391G exonic ENSG00000183856 NA nonsynonymous SNV ENSG00000183856:ENST00000491900:exon11:c.A1042G:p.R348G,ENSG00000183856:ENST00000361170:exon12:c.A1171G:p.R391G Score=426;Name=lod=72 NA 1q23.1 Score=882;Name=V$P300_01 NA NA NA rs2488269 0.97 0.97 0.974 0.960064 1 1 0.9885 0.8548 1 1 1 0.99 0.88 0.9878 1 1 T 0.0 B 0.0 B 0.000 N 0.945 P -2.015 N 3.66 T -0.935 T 0.001 T 0.257 0.22 5.186 5.54 1.344 5.777 13.383 0.219828 NA 1 0.999651 0.875397 NA 0.899 NA 9.3458824 725 1 27210721 27210721 T C exonic GPN2 NA nonsynonymous SNV GPN2:NM_018066:exon4:c.A790G:p.R264G exonic ENSG00000142751 NA nonsynonymous SNV ENSG00000142751:ENST00000374133:exon3:c.A253G:p.R85G,ENSG00000142751:ENST00000374135:exon4:c.A790G:p.R264G Score=594;Name=lod=346 NA 1p36.11 NA NA NA NA rs3170660 0.84 0.84 0.842 0.873203 0.6292 0.997 0.8256 0.9781 0.8885 0.63 1 0.81 0.98 0.732 1 1 T 0.0 B 0.0 B 0.000 N 0.917 P 0 N 2.37 T -0.920 T 0.000 T 0.142 1.021 9.172 5.48 1.329 5.788 14.182 1.021476 NA 1 0.626512 0.916931 NA 0.848 NA 9.3456214 725 4 39450229 39450229 C A exonic KLB NA nonsynonymous SNV KLB:NM_175737:exon5:c.C3058A:p.Q1020K exonic ENSG00000134962 NA nonsynonymous SNV ENSG00000134962:ENST00000257408:exon5:c.C3058A:p.Q1020K NA NA 4p14 NA Name=Pol2 NA NA rs4975017 0.33 0.33 0.283 0.328275 0.3201 0.3819 0.402 0.118 0.5133 0.35 0.42 0.41 0.12 0.343 0.42 1 T 0.049 B 0.01 B 0.761 N 1.000 P -0.205 N 1.81 T -0.916 T 0.000 T 0.055 -2.213 0.005 2.81 0.786 1.848 5.233 -2.212627 NA 1 0.324651 0.155243 NA 0.261 NA 9.3455824 725 5 128863471 128863471 A G exonic ADAMTS19 NA nonsynonymous SNV ADAMTS19:NM_133638:exon5:c.A1099G:p.S367G exonic ENSG00000145808 NA nonsynonymous SNV ENSG00000145808:ENST00000274487:exon5:c.A1099G:p.S367G Score=592;Name=lod=340 NA 5q23.3 Score=847;Name=V$AHRARNT_01 NA NA NA rs6595908 1 1 0.999 0.999201 0.998 1 0.9986 1 0.999 1 1 1 1 0.9954 1 . . 0.0 B 0.0 B 0.000 N 1.000 P -1.915 N -0.06 T -0.956 T 0.000 T 0.065 0.051 4.279 4.41 1.469 4.068 11.874 0.051013 NA 1 0.994419 0.999319 NA 1 NA 9.3455144 726 4 129100643 129100643 G A exonic LARP1B NA nonsynonymous SNV LARP1B:NM_018078:exon15:c.G1979A:p.R660H exonic ENSG00000138709 NA nonsynonymous SNV ENSG00000138709:ENST00000264584:exon13:c.G1802A:p.R601H,ENSG00000138709:ENST00000326639:exon15:c.G1979A:p.R660H,ENSG00000138709:ENST00000354456:exon15:c.G236A:p.R79H,ENSG00000138709:ENST00000441387:exon15:c.G1979A:p.R660H Score=648;Name=lod=575 NA 4q28.2 Score=705;Name=V$LUN1_01 NA NA NA rs12645577 0.54 0.54 0.52 0.569489 0.6769 0.5218 0.6758 0.3306 0.7556 0.68 0.45 0.67 0.35 0.6468 0.68 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.89 N 2.21 T -0.918 T 0.000 T 0.189 -1.088 0.154 4.16 0.645 5.071 9.609 -1.087992 NA 1 0.664884 0.405583 NA 0.536 NA 9.3447494 726 10 50532683 50532683 T C exonic C10orf71 NA nonsynonymous SNV C10orf71:NM_001135196:exon3:c.T2093C:p.F698S exonic ENSG00000177354 NA nonsynonymous SNV ENSG00000177354:ENST00000374144:exon3:c.T2093C:p.F698S Score=313;Name=lod=25 NA 10q11.23 Score=791;Name=V$STAT5A_02 NA NA NA rs7921186 0.97 0.97 0.963 0.962859 0.999 1 0.9798 0.8707 1 1 1 0.98 0.88 0.9905 1 0.13 T . . . . 0.004 N 0.000 P -1.61 N 4.01 T -0.906 T 0.000 T 0.054 0.085 4.459 5.64 1.416 2.397 9.935 0.085043 NA 0.26 0.999267 0.893858 NA 0.964 NA 9.3445664 726 12 53700848 53700848 C T exonic C12orf10 NA nonsynonymous SNV C12orf10:NM_021640:exon7:c.C1046T:p.T349I exonic ENSG00000139637 NA nonsynonymous SNV ENSG00000139637:ENST00000549488:exon5:c.C557T:p.T186I,ENSG00000139637:ENST00000548632:exon6:c.C821T:p.T274I,ENSG00000139637:ENST00000267103:exon7:c.C1046T:p.T349I Score=664;Name=lod=664 NA 12q13.13 Score=815;Name=V$PAX4_01 NA NA NA rs1534282 0.97 0.97 0.963 0.96885 1 1 0.9914 0.8865 1 1 1 0.99 0.87 0.9899 1 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.04 N 1.48 T -0.948 T 0.000 T 0.599 0.575 7.106 5.03 1.054 4.733 9.323 0.5751 NA 1 0.998953 0.898094 NA 0.949 NA 9.3444804 726 2 196673533 196673533 A G exonic DNAH7 NA nonsynonymous SNV DNAH7:NM_018897:exon53:c.T9956C:p.L3319P exonic ENSG00000118997 NA nonsynonymous SNV ENSG00000118997:ENST00000312428:exon53:c.T9956C:p.L3319P Score=545;Name=lod=219 NA 2q32.3 NA NA NA NA rs13411834 0.97 0.97 0.964 0.961262 1 1 0.987 0.8601 1 1 1 0.98 0.88 0.9894 1 1 T 0.0 B 0.0 B 0.803 N 0.000 P -3.95 N -2.19 D -0.827 T 0.000 T 0.074 0.676 7.617 5.06 1.370 7.026 13.515 0.675962 NA 1 0.999636 0.883801 NA 0.942 NA 9.3442974 726 14 23549379 23549379 C G exonic ACIN1 NA nonsynonymous SNV ACIN1:NM_001164815:exon5:c.G1219C:p.A407P,ACIN1:NM_001164814:exon6:c.G1339C:p.A447P,ACIN1:NM_014977:exon6:c.G1339C:p.A447P exonic ENSG00000100813 NA nonsynonymous SNV ENSG00000100813:ENST00000457657:exon5:c.G1219C:p.A407P,ENSG00000100813:ENST00000262710:exon6:c.G1339C:p.A447P,ENSG00000100813:ENST00000555053:exon6:c.G1339C:p.A447P,ENSG00000100813:ENST00000605057:exon6:c.G1165C:p.A389P Score=440;Name=lod=82 NA 14q11.2 Score=832;Name=V$GR_Q6 NA NA NA rs941719 1 1 0.999 0.999601 0.998 1 1 1 1 1 1 1 1 0.9972 1 1 T 0.0 B 0.0 B 0.001 N 0.000 P -0.805 N 2.71 T -0.939 T 0.000 T 0.219 0.038 4.211 5.42 1.539 2.783 12.280 0.037904 NA 1 0.995698 0.998411 NA 0.891 NA 9.3424354 726 15 41815516 41815516 G C exonic RPAP1 NA nonsynonymous SNV RPAP1:NM_015540:exon18:c.C2473G:p.Q825E exonic ENSG00000103932 NA nonsynonymous SNV ENSG00000103932:ENST00000304330:exon18:c.C2473G:p.Q825E,ENSG00000103932:ENST00000561603:exon18:c.C2473G:p.Q825E,ENSG00000103932:ENST00000562303:exon18:c.C2473G:p.Q825E Score=399;Name=lod=56 NA 15q15.1 NA NA Name=9 NA rs8027526 0.98 0.98 0.982 0.975839 1 1 0.9914 0.913 1 1 1 0.99 0.93 0.9925 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.095 N -0.14 T -0.934 T 0.000 T 0.108 -0.449 1.919 5.7 1.419 3.629 14.379 -0.4489 NA 1 0.998953 0.918747 NA 0.877 NA 9.3418804 726 15 100514614 100514614 T C exonic ADAMTS17 NA nonsynonymous SNV ADAMTS17:NM_139057:exon22:c.A3281G:p.N1094S exonic ENSG00000140470 NA nonsynonymous SNV ENSG00000140470:ENST00000268070:exon22:c.A3281G:p.N1094S Score=259;Name=lod=15 NA 15q26.3 NA NA NA NA rs2573652 0.65 0.65 0.664 0.679513 0.665 0.5575 0.5692 0.8374 0.6851 0.66 0.53 0.61 0.82 0.6617 0.82 0.43 T 0.0 B 0.0 B 0.105 N 1.000 P 0 N 0.18 T -0.999 T 0.000 T 0.032 -1.259 0.048 4.09 1.353 1.719 10.439 -1.259246 NA 1 0.665349 0.810259 ID=COSM1375652;OCCURENCE=1(large_intestine) 0.674 NA 9.3412844 726 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 726 1 24416059 24416059 T C exonic MYOM3 NA nonsynonymous SNV MYOM3:NM_152372:exon14:c.A1583G:p.D528G exonic ENSG00000142661 NA nonsynonymous SNV ENSG00000142661:ENST00000329601:exon14:c.A1583G:p.D528G,ENSG00000142661:ENST00000330966:exon14:c.A1586G:p.D529G,ENSG00000142661:ENST00000374434:exon14:c.A1583G:p.D528G Score=381;Name=lod=47 NA 1p36.11 Score=880;Name=V$AP2_Q6 NA NA NA rs4393101 0.98 0.98 0.966 0.978834 0.999 1 0.9841 0.9289 1 1 1 0.99 0.92 0.994 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.4 N 0.83 T -0.935 T 0.000 T 0.14 0.014 4.085 5.29 1.261 4.654 14.151 0.01371 NA 1 0.999636 0.935142 NA 0.957 NA 9.3406974 726 3 111828423 111828423 G A exonic C3orf52 NA nonsynonymous SNV C3orf52:NM_024616:exon4:c.G430A:p.G144S exonic ENSG00000114529 NA nonsynonymous SNV ENSG00000114529:ENST00000264848:exon4:c.G430A:p.G144S Score=304;Name=lod=23 NA 3q13.2 NA Name=FOXA1_(SC-101058),FOXA1_(C-20) Name=12 NA rs340167 0.98 0.98 0.977 0.976837 1 1 0.9957 0.9145 1 1 1 0.99 0.91 0.9932 1 0.72 T 0.0 B 0.0 B 0.016 N 0.000 P -1.355 N 3.29 T -1.024 T 0.000 T 0.045 -0.25 2.799 2.53 0.014 1.608 5.819 -0.249608 NA 0.9 0.999758 0.921605 NA 0.971 NA 9.3403754 726 11 112088499 112088499 A C exonic BCO2 NA nonsynonymous SNV BCO2:NM_001256398:exon10:c.A1423C:p.I475L,BCO2:NM_001256400:exon11:c.A1327C:p.I443L,BCO2:NM_001037290:exon12:c.A1540C:p.I514L,BCO2:NM_001256397:exon12:c.A1522C:p.I508L,BCO2:NM_031938:exon12:c.A1642C:p.I548L exonic ENSG00000197580 NA nonsynonymous SNV ENSG00000197580:ENST00000361053:exon10:c.A1423C:p.I475L,ENSG00000197580:ENST00000532593:exon11:c.A1327C:p.I443L,ENSG00000197580:ENST00000357685:exon12:c.A1642C:p.I548L,ENSG00000197580:ENST00000393032:exon12:c.A1540C:p.I514L,ENSG00000197580:ENST00000438022:exon12:c.A1540C:p.I514L,ENSG00000197580:ENST00000526088:exon12:c.A1522C:p.I508L,ENSG00000197580:ENST00000531169:exon12:c.A1540C:p.I514L Score=415;Name=lod=65 NA 11q23.1 Score=739;Name=V$PPARA_01 NA NA NA rs2217401 0.99 0.99 0.985 0.986621 0.998 1 0.9942 0.9539 1 1 1 1 0.95 0.9953 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.76 N -2.58 D -0.931 T 0.000 T 0.32 -0.682 1.031 5.04 0.872 4.563 7.527 -0.681876 NA 1 0.999767 0.95343 NA 0.971 NA 9.3402664 726 10 120353910 120353910 T C exonic PRLHR NA nonsynonymous SNV PRLHR:NM_004248:exon2:c.A847G:p.I283V exonic ENSG00000119973 NA nonsynonymous SNV ENSG00000119973:ENST00000369169:exon1:c.A847G:p.I283V,ENSG00000119973:ENST00000239032:exon2:c.A847G:p.I283V Score=621;Name=lod=446 NA 10q26.11 NA Name=CtBP2,CTCF NA NA rs1613448 0.98 0.98 0.977 0.978035 0.999 1 0.987 0.9244 1 1 1 0.99 0.91 0.9945 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.63 N 1.08 T -0.945 T 0.000 T 0.114 -0.568 1.439 4.38 1.065 3.866 12.564 -0.568173 NA 1 0.999883 0.939235 NA 0.601 NA 9.3399504 726 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 726 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 726 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 726 7 51096974 51096974 C T exonic COBL NA nonsynonymous SNV COBL:NM_015198:exon10:c.G1819A:p.V607I exonic ENSG00000106078 NA nonsynonymous SNV ENSG00000106078:ENST00000431948:exon9:c.G1474A:p.V492I,ENSG00000106078:ENST00000445054:exon9:c.G1495A:p.V499I,ENSG00000106078:ENST00000265136:exon10:c.G1819A:p.V607I,ENSG00000106078:ENST00000395542:exon12:c.G2065A:p.V689I NA NA 7p12.1 NA Name=HA-E2F1 Name=2 NA rs2240090 0.6 0.6 0.596 0.608227 0.6938 0.4643 0.5937 0.6649 0.6022 0.68 0.44 0.6 0.65 0.627 0.69 0.43 T 0.001 B 0.0 B 0.000 N 1.000 P -1.1 N 1.94 T -0.903 T 0.000 T 0.088 -0.856 0.536 -11.6 -8.048 -4.240 6.389 -0.855524 NA 0.94 0.673256 0.690649 NA 0.601 NA 9.3392774 726 2 136575534 136575534 T C exonic LCT NA nonsynonymous SNV LCT:NM_002299:exon6:c.A1084G:p.I362V exonic ENSG00000115850 NA nonsynonymous SNV ENSG00000115850:ENST00000264162:exon6:c.A1084G:p.I362V Score=383;Name=lod=48 NA 2q21.3 Score=711;Name=V$LUN1_01 NA NA NA rs4954449 0.98 0.98 0.979 0.979233 1 1 0.9957 0.9236 1 1 1 0.99 0.92 0.9943 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.905 N 2.02 T -0.954 T 0.000 T 0.036 -0.761 0.784 5.56 1.502 4.503 12.036 -0.761414 NA 1 0.999884 0.93645 NA 0.964 NA 9.3391494 726 22 19951271 19951271 G A exonic COMT NA nonsynonymous SNV COMT:NM_007310:exon2:c.G322A:p.V108M,COMT:NM_000754:exon4:c.G472A:p.V158M,COMT:NM_001135161:exon4:c.G472A:p.V158M,COMT:NM_001135162:exon4:c.G472A:p.V158M exonic ENSG00000093010 NA nonsynonymous SNV ENSG00000093010:ENST00000449653:exon2:c.G322A:p.V108M,ENSG00000093010:ENST00000207636:exon4:c.G472A:p.V158M,ENSG00000093010:ENST00000361682:exon4:c.G472A:p.V158M,ENSG00000093010:ENST00000403184:exon4:c.G472A:p.V158M,ENSG00000093010:ENST00000403710:exon4:c.G472A:p.V158M,ENSG00000093010:ENST00000406520:exon4:c.G472A:p.V158M,ENSG00000093010:ENST00000412786:exon4:c.G472A:p.V158M,ENSG00000093010:ENST00000407537:exon5:c.G322A:p.V108M Score=405;Name=lod=59 NA 22q11.21 NA Name=eGFP-NR4A1 NA NA rs4680 0.39 0.39 0.375 0.369209 0.5 0.2798 0.3775 0.2806 0.4407 0.52 0.29 0.39 0.31 0.4727 0.52 . . 0.608 P 0.072 B 0.138 N 1.000 P 1.66 L -0.71 T -0.922 T 0.000 T 0.523 1.281 10.19 -0.75 0.033 -0.132 6.553 1.280712 1.280712 0.09 0.521512 0.314798 NA 0.399 CLINSIG=non-pathogenic;CLNDBN=CATECHOL-O-METHYLTRANSFERASE_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000019156.2;CLNDSDB=.;CLNDSDBID=. 9.3391214 726 9 140357972 140357972 A G exonic PNPLA7 NA nonsynonymous SNV PNPLA7:NM_152286:exon28:c.T3163C:p.W1055R,PNPLA7:NM_001098537:exon29:c.T3238C:p.W1080R exonic ENSG00000130653 NA nonsynonymous SNV ENSG00000130653:ENST00000371457:exon18:c.T1981C:p.W661R,ENSG00000130653:ENST00000277531:exon28:c.T3163C:p.W1055R,ENSG00000130653:ENST00000434090:exon28:c.T3136C:p.W1046R,ENSG00000130653:ENST00000406427:exon29:c.T3238C:p.W1080R Score=544;Name=lod=217 NA 9q34.3 Score=833;Name=V$AHRARNT_01 Name=HNF4A_(H-171),SP1 Name=3 NA rs1891627 1 1 0.999 0.997204 0.999 1 0.9813 1 1 1 1 0.99 1 0.9972 1 1 T 0.0 B 0.0 B 0.000 N 0.979 P -2.99 N 2.23 T -1.000 T 0.000 T 0.326 -1.914 0.008 2.16 -0.043 0.105 7.327 -1.913721 NA 1 0.998368 0.999316 NA 0.768 NA 9.3387654 726 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 726 16 81050965 81050965 A T exonic CENPN NA nonsynonymous SNV CENPN:NM_001100624:exon4:c.A252T:p.E84D,CENPN:NM_001100625:exon4:c.A252T:p.E84D,CENPN:NM_001270474:exon4:c.A252T:p.E84D,CENPN:NM_018455:exon4:c.A252T:p.E84D exonic ENSG00000166451 NA nonsynonymous SNV ENSG00000166451:ENST00000299572:exon4:c.A252T:p.E84D,ENSG00000166451:ENST00000305850:exon4:c.A252T:p.E84D,ENSG00000166451:ENST00000393335:exon4:c.A252T:p.E84D,ENSG00000166451:ENST00000428963:exon4:c.A252T:p.E84D,ENSG00000166451:ENST00000564669:exon4:c.A252T:p.E84D Score=410;Name=lod=62 NA 16q23.2 NA NA Name=3 NA rs935939 0.98 0.98 0.98 0.984026 1 1 0.9971 0.941 1 1 1 1 0.93 0.995 1 1 T 0.0 B 0.0 B 0.320 N 0.000 P -1.5 N 1.98 T -0.970 T 0.000 T 0.053 0.695 7.709 5.58 0.960 1.454 9.899 0.694723 NA 0.98 1 0.955041 NA 0.978 NA 9.3383334 726 17 39742899 39742899 C T exonic KRT14 NA nonsynonymous SNV KRT14:NM_000526:exon1:c.G188A:p.C63Y exonic ENSG00000186847 NA nonsynonymous SNV ENSG00000186847:ENST00000167586:exon1:c.G188A:p.C63Y NA NA 17q21.2 NA NA Name=2 NA rs6503640 0.88 0.88 0.99 0.992612 0.998 0.998 1 0.975 1 0.89 0.86 0.91 0.84 0.9971 0.91 0.11 T 0.0 B 0.0 B 0.037 N 1.000 P 1.245 L -2.24 D -1.013 T 0.000 T 0.178 0.218 5.175 -1.0 -0.636 -1.774 4.741 0.217908 NA 0.02 NA NA NA 0.355 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056696.1;CLNDSDB=.;CLNDSDBID=. 9.3382334 726 10 13166076 13166076 A G exonic OPTN NA nonsynonymous SNV OPTN:NM_021980:exon8:c.A964G:p.K322E,OPTN:NM_001008212:exon9:c.A964G:p.K322E,OPTN:NM_001008211:exon10:c.A964G:p.K322E,OPTN:NM_001008213:exon10:c.A964G:p.K322E exonic ENSG00000123240 NA nonsynonymous SNV ENSG00000123240:ENST00000378757:exon8:c.A964G:p.K322E,ENSG00000123240:ENST00000263036:exon9:c.A964G:p.K322E,ENSG00000123240:ENST00000378747:exon9:c.A964G:p.K322E,ENSG00000123240:ENST00000378764:exon9:c.A946G:p.K316E,ENSG00000123240:ENST00000378748:exon10:c.A964G:p.K322E,ENSG00000123240:ENST00000378752:exon10:c.A946G:p.K316E Score=517;Name=lod=168 NA 10p13 NA NA NA NA rs523747 0.99 0.99 0.992 0.993411 0.999 1 0.9971 0.9773 1 1 1 1 0.96 0.9973 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.445 N -1.92 D -0.929 T 0.000 T 0.196 0.181 4.973 6.17 1.644 6.047 14.787 0.180748 NA 1 0.998837 0.97458 NA 0.978 NA 9.3381964 726 11 14991539 14991539 T C exonic CALCA NA nonsynonymous SNV CALCA:NM_001033952:exon3:c.A169G:p.N57D,CALCA:NM_001033953:exon3:c.A169G:p.N57D,CALCA:NM_001741:exon3:c.A169G:p.N57D exonic ENSG00000110680 NA nonsynonymous SNV ENSG00000110680:ENST00000486207:exon2:c.A169G:p.N57D,ENSG00000110680:ENST00000331587:exon3:c.A169G:p.N57D,ENSG00000110680:ENST00000359642:exon3:c.A169G:p.N57D,ENSG00000110680:ENST00000361010:exon3:c.A169G:p.N57D,ENSG00000110680:ENST00000396372:exon3:c.A169G:p.N57D,ENSG00000110680:ENST00000469608:exon3:c.A169G:p.N57D Score=498;Name=lod=141 NA 11p15.2 Score=767;Name=V$PAX6_01 Name=SMC3_(ab9263),CTCFL_(SC-98982),Rad21,CTCF_(C-20),CTCF_(SC-5916),CTCF Name=33 NA rs5239 0.97 0.97 0.985 0.986821 1 1 0.9986 0.9508 1 0.99 0.98 0.97 0.91 0.9953 1 1 T 0.0 B 0.0 B 0.032 N 0.000 P -2.035 N 2.05 T -0.981 T 0.000 T 0.069 -0.049 3.767 1.78 0.052 1.998 9.803 -0.048513 NA 1 0.999884 0.952045 NA 0.986 NA 9.3381494 726 12 121437382 121437382 A G exonic HNF1A NA nonsynonymous SNV HNF1A:NM_000545:exon9:c.A1720G:p.S574G exonic ENSG00000135100 NA nonsynonymous SNV ENSG00000135100:ENST00000541395:exon8:c.A1813G:p.S605G,ENSG00000135100:ENST00000257555:exon9:c.A1720G:p.S574G,ENSG00000135100:ENST00000544413:exon9:c.A1741G:p.S581G NA NA 12q24.31 NA Name=Pol2-4H8 Name=4 NA rs1169305 0.99 0.99 0.987 0.985224 1 1 0.9957 0.9463 1 1 1 0.99 0.96 0.9958 1 0.73 T 0.0 B 0.0 B 0.043 N 0.998 P . . -2.86 D -0.950 T 0.000 T 0.266 -0.627 1.22 2.58 -0.004 0.318 8.164 -0.627133 NA 0.4 0.99965 0.961924 NA 0.935 CLINSIG=pathogenic;CLNDBN=Maturity-onset_diabetes_of_the_young\x2c_type_3,Maturity-onset_diabetes_of_the_young\x2c_type_3|not_specified;CLNREVSTAT=single,single|not;CLNACC=RCV000016077.24,RCV000030490.1|RCV000121200.1;CLNDSDB=MedGen:OMIM:Orphanet,MedGen:OMIM:Orphanet|.;CLNDSDBID=C1838100:600496:ORPHA552,C1838100:600496:ORPHA552|. 9.3378834 726 7 139797431 139797431 G T exonic JHDM1D NA nonsynonymous SNV JHDM1D:NM_030647:exon15:c.C1930A:p.R644S exonic ENSG00000006459 NA nonsynonymous SNV ENSG00000006459:ENST00000006967:exon15:c.C1930A:p.R644S,ENSG00000006459:ENST00000397560:exon15:c.C1930A:p.R644S Score=610;Name=lod=401 NA 7q34 NA NA NA NA rs6950119 0.3 0.3 0.328 0.327476 0.334 0.245 0.2767 0.4039 0.3384 0.31 0.24 0.28 0.38 0.3218 0.43 0.43 T 0.0 B 0.0 B 0.001 N 0.753 P -1.995 N 2.92 T -0.941 T 0.000 T 0.249 0.04 4.224 3.18 0.399 2.472 8.530 0.040418 NA 0.23 0.339849 0.382639 ID=COSM321080;OCCURENCE=1(lung) 0.377 NA 9.3376844 726 19 41118056 41118056 A G exonic LTBP4 NA unknown UNKNOWN exonic ENSG00000090006 NA nonsynonymous SNV ENSG00000090006:ENST00000396819:exon15:c.A2257G:p.T753A,ENSG00000090006:ENST00000204005:exon18:c.A2347G:p.T783A,ENSG00000090006:ENST00000308370:exon18:c.A2458G:p.T820A,ENSG00000090006:ENST00000545697:exon18:c.A817G:p.T273A Score=470;Name=lod=108 NA 19q13.2 Score=948;Name=V$P53_02 NA NA NA rs1051303 0.44 0.44 0.443 0.495008 0.4523 0.4058 0.3516 0.6218 0.5613 0.45 0.35 0.35 0.6 0.459 0.6 1 T 0.003 B 0.001 B 0.037 N 0.000 P -1.3 N -2.28 D -0.946 T 0.000 T 0.032 -1.194 0.075 2.97 0.227 -0.228 10.090 -1.194367 NA 0.9 0.417933 0.567581 ID=COSM1583007;OCCURENCE=1(meninges) 0.42 NA 9.3374337 726 5 137206560 137206560 A C exonic MYOT NA nonsynonymous SNV MYOT:NM_006790:exon2:c.A220C:p.K74Q exonic ENSG00000120729 NA nonsynonymous SNV ENSG00000120729:ENST00000239926:exon2:c.A220C:p.K74Q Score=584;Name=lod=314 NA 5q31.2 NA NA NA NA rs6890689 0.99 0.99 0.984 NA NA NA NA NA NA 1 1 1 0.95 0.9959 1 0.38 T 0.0 B 0.0 B 0.000 N 0.000 P -0.205 N -0.21 T -0.965 T 0.000 T 0.257 -0.724 0.895 5.76 1.457 2.809 14.777 -0.724041 NA 1 1 0.956196 NA 0.978 NA 9.3374334 726 1 48697733 48697733 T G exonic SLC5A9 NA nonsynonymous SNV SLC5A9:NM_001011547:exon7:c.T807G:p.I269M,SLC5A9:NM_001135181:exon8:c.T882G:p.I294M exonic ENSG00000117834 NA nonsynonymous SNV ENSG00000117834:ENST00000438567:exon7:c.T807G:p.I269M,ENSG00000117834:ENST00000236495:exon8:c.T882G:p.I294M,ENSG00000117834:ENST00000533824:exon8:c.T870G:p.I290M Score=521;Name=lod=174 NA 1p33 Score=702;Name=V$LUN1_01 NA NA NA rs212991 1 1 1 0.999401 0.998 1 0.9986 1 1 1 1 1 1 0.9993 1 1 T 0.001 B 0.007 B 0.000 N 0.000 P 0.115 N -2.35 D -0.915 T 0.000 T 0.095 0.533 6.885 4.05 0.405 1.851 5.718 0.532713 NA 0.86 0.998605 1 NA 1 NA 9.3374284 726 11 67352689 67352689 A G exonic GSTP1 NA nonsynonymous SNV GSTP1:NM_000852:exon5:c.A313G:p.I105V exonic ENSG00000084207 NA nonsynonymous SNV ENSG00000084207:ENST00000398603:exon5:c.A313G:p.I105V,ENSG00000084207:ENST00000398606:exon5:c.A313G:p.I105V NA NA 11q13.2 Score=697;Name=V$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 726 22 45923827 45923827 A G exonic FBLN1 NA nonsynonymous SNV FBLN1:NM_001996:exon4:c.A422G:p.Q141R,FBLN1:NM_006485:exon4:c.A422G:p.Q141R,FBLN1:NM_006486:exon4:c.A422G:p.Q141R,FBLN1:NM_006487:exon4:c.A422G:p.Q141R exonic ENSG00000077942 NA nonsynonymous SNV ENSG00000077942:ENST00000451475:exon3:c.A242G:p.Q81R,ENSG00000077942:ENST00000454279:exon3:c.A296G:p.Q99R,ENSG00000077942:ENST00000262722:exon4:c.A422G:p.Q141R,ENSG00000077942:ENST00000327858:exon4:c.A422G:p.Q141R,ENSG00000077942:ENST00000340923:exon4:c.A422G:p.Q141R,ENSG00000077942:ENST00000348697:exon4:c.A422G:p.Q141R,ENSG00000077942:ENST00000411478:exon4:c.A446G:p.Q149R,ENSG00000077942:ENST00000442170:exon4:c.A422G:p.Q141R,ENSG00000077942:ENST00000455233:exon4:c.A422G:p.Q141R,ENSG00000077942:ENST00000402984:exon5:c.A536G:p.Q179R Score=500;Name=lod=144 NA 22q13.31 Score=757;Name=V$TCF11MAFG_01 NA NA NA rs136730 1 1 1 0.999601 0.999 1 0.9986 1 1 1 1 1 1 0.9988 1 0.81 T 0.0 B 0.001 B 0.000 N 1.000 P -1.955 N 2.03 T -0.960 T 0.000 T 0.329 0.184 4.99 5.21 1.199 5.512 13.666 0.183855 NA 1 0.998372 0.998865 NA 1 NA 9.3371614 726 6 35027927 35027927 T C exonic ANKS1A NA nonsynonymous SNV ANKS1A:NM_015245:exon13:c.T2081C:p.L694S exonic ENSG00000064999 NA nonsynonymous SNV ENSG00000064999:ENST00000360359:exon13:c.T2081C:p.L694S Score=711;Name=lod=1037 NA 6p21.31 NA Name=CTCF NA NA rs820085 0.99 0.99 0.987 0.990415 1 1 1 0.9637 1 1 1 1 0.97 0.9964 1 0.94 T 0.0 B 0.0 B 0.023 N 0.000 P -1.15 N 1.35 T -1.012 T 0.010 T 0.071 0.329 5.782 5.68 1.423 3.787 13.209 0.328704 NA 0.46 0.999884 0.96187 NA 0.986 NA 9.3370494 726 6 121620608 121620608 G T exonic C6orf170 NA nonsynonymous SNV C6orf170:NM_152730:exon10:c.C1124A:p.T375K exonic ENSG00000146350 NA nonsynonymous SNV ENSG00000146350:ENST00000275159:exon10:c.C1124A:p.T375K,ENSG00000146350:ENST00000398212:exon10:c.C1124A:p.T375K Score=537;Name=lod=203 NA 6q22.31 NA Name=CEBPB Name=2 NA rs9387944 0.99 0.99 0.991 0.990016 1 1 0.9957 0.9644 1 1 1 1 0.97 0.9965 1 1 T 0.0 B 0.001 B 0.000 N 1.000 P -2.075 N 2.62 T -0.926 T 0.002 T 0.094 -0.368 2.266 4.83 0.794 2.198 12.040 -0.368086 NA 1 1 0.967264 NA 0.993 NA 9.3368334 726 16 88872145 88872145 T C exonic CDT1 NA nonsynonymous SNV CDT1:NM_030928:exon5:c.T700C:p.C234R exonic ENSG00000167513 NA nonsynonymous SNV ENSG00000167513:ENST00000301019:exon5:c.T700C:p.C234R Score=511;Name=lod=159 NA 16q24.3 NA NA NA NA rs507329 1 1 1 0.9998 0.999 1 1 1 1 1 1 1 1 0.9993 1 1 T 0.001 B 0.0 B 0.007 N 0.106 P -2.075 N 1.7 T -0.972 T 0.000 T 0.039 -1.681 0.012 3.83 1.053 1.022 9.650 -1.681195 NA NA 0.999419 0.999773 NA 0.986 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116652.2;CLNDSDB=.;CLNDSDBID=. 9.3356144 727 X 17819377 17819377 T C exonic RAI2 NA nonsynonymous SNV RAI2:NM_021785:exon2:c.A754G:p.M252V,RAI2:NM_001172732:exon3:c.A604G:p.M202V,RAI2:NM_001172739:exon3:c.A754G:p.M252V,RAI2:NM_001172743:exon3:c.A754G:p.M252V exonic ENSG00000131831 NA nonsynonymous SNV ENSG00000131831:ENST00000451717:exon2:c.A754G:p.M252V,ENSG00000131831:ENST00000331511:exon3:c.A754G:p.M252V,ENSG00000131831:ENST00000360011:exon3:c.A754G:p.M252V,ENSG00000131831:ENST00000415486:exon3:c.A604G:p.M202V,ENSG00000131831:ENST00000545871:exon3:c.A754G:p.M252V Score=363;Name=lod=40 NA Xp22.13 NA NA NA NA rs6527818 1 1 1 NA NA NA NA NA NA 1 1 1 1 0.9993 1 1 T 0.0 B 0.0 B 0.004 N 1.000 P -1.39 N 1.79 T -0.956 T 0.000 T 0.182 -1.354 0.028 5.29 1.233 1.494 8.065 -1.354178 NA 1 0.999257 1 NA 0.746 NA 9.3347764 727 1 180913597 180913597 A G exonic KIAA1614 NA nonsynonymous SNV KIAA1614:NM_020950:exon8:c.A3232G:p.N1078D exonic ENSG00000135835 NA nonsynonymous SNV ENSG00000135835:ENST00000367587:exon5:c.A2095G:p.N699D,ENSG00000135835:ENST00000367588:exon8:c.A3232G:p.N1078D Score=329;Name=lod=29 NA 1q25.3 NA Name=CTCF,Rad21 NA NA rs2331995 1 1 0.999 0.996406 1 1 0.9986 0.9871 1 1 1 1 0.99 0.9988 1 1 T 0.0 B 0.0 B 0.241 N 1.000 N -2.125 N 2.89 T -0.988 T 0.000 T 0.004 1.447 10.78 4.94 1.093 2.369 9.512 1.447304 1.447304 0.03 0.99988 0.988608 NA 0.986 NA 9.3346534 727 9 131860901 131860901 G T exonic CRAT NA nonsynonymous SNV CRAT:NM_000755:exon9:c.C1114A:p.L372M,CRAT:NM_001257363:exon10:c.C1051A:p.L351M exonic ENSG00000095321 NA nonsynonymous SNV ENSG00000095321:ENST00000318080:exon9:c.C1114A:p.L372M Score=546;Name=lod=221 NA 9q34.11 NA NA NA NA rs3118635 1 1 0.997 0.996406 1 1 0.9971 0.9879 1 1 1 1 0.99 0.9987 1 0.12 T 0.0 B 0.001 B 0.000 N 0.000 P -0.27 N -2.45 D -0.935 T 0.000 T 0.271 0.468 6.543 5.13 0.978 4.458 11.667 0.468378 NA 1 1 0.988198 NA 0.993 NA 9.3346334 727 1 33065947 33065947 G C exonic ZBTB8A NA nonsynonymous SNV ZBTB8A:NM_001040441:exon5:c.G1253C:p.G418A exonic ENSG00000160062,ENSG00000176261 NA nonsynonymous SNV ENSG00000176261:ENST00000341885:exon2:c.C138G:p.H46Q,ENSG00000160062:ENST00000373510:exon5:c.G1253C:p.G418A Score=615;Name=lod=421 NA 1p35.1 NA Name=GATA-2 NA NA rs704886 1 1 1 0.9998 0.999 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -0.805 N 2.79 T -0.974 T 0.000 T 0.034 0.719 7.825 5.59 1.526 3.226 14.508 0.718527 NA 0 0.999884 1 NA 1 NA 9.3344494 727 16 84444349 84444349 A C exonic ATP2C2 NA nonsynonymous SNV ATP2C2:NM_014861:exon6:c.A493C:p.M165L exonic ENSG00000064270 NA nonsynonymous SNV ENSG00000064270:ENST00000262429:exon6:c.A493C:p.M165L,ENSG00000064270:ENST00000416219:exon6:c.A493C:p.M165L Score=500;Name=lod=144 NA 16q24.1 NA NA Name=6 NA rs247818 1 1 1 0.996206 1 1 1 0.9856 1 1 1 1 1 0.999 1 1 T 0.0 B 0.0 B 0.002 N 1.000 P -1.435 N -2.27 D -0.941 T 0.000 T 0.061 -0.497 1.721 3.89 0.473 1.107 5.868 -0.496664 NA 1 1 0.993208 NA 1 NA 9.3343334 727 11 117160347 117160347 A G exonic BACE1 NA nonsynonymous SNV BACE1:NM_001207048:exon8:c.T1141C:p.C381R,BACE1:NM_001207049:exon8:c.T1066C:p.C356R,BACE1:NM_012104:exon9:c.T1441C:p.C481R,BACE1:NM_138971:exon9:c.T1309C:p.C437R,BACE1:NM_138972:exon9:c.T1366C:p.C456R,BACE1:NM_138973:exon9:c.T1234C:p.C412R exonic ENSG00000186318 NA nonsynonymous SNV ENSG00000186318:ENST00000392937:exon8:c.T1141C:p.C381R,ENSG00000186318:ENST00000510630:exon8:c.T1066C:p.C356R,ENSG00000186318:ENST00000528053:exon8:c.T1339C:p.C447R,ENSG00000186318:ENST00000313005:exon9:c.T1441C:p.C481R,ENSG00000186318:ENST00000428381:exon9:c.T1234C:p.C412R,ENSG00000186318:ENST00000445823:exon9:c.T1309C:p.C437R,ENSG00000186318:ENST00000513780:exon9:c.T1366C:p.C456R Score=712;Name=lod=1043 NA 11q23.3 Score=761;Name=V$NRSF_01 NA NA NA rs539765 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9997 1 0.4 T 0.0 B 0.0 B 0.000 N 0.004 P -0.805 N 2.08 T -0.959 T 0.000 T 0.31 1.691 11.61 5.65 1.400 7.626 13.948 1.690691 1.690691 1 0.999302 1 NA 0.993 NA 9.3343314 727 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 727 13 103527849 103527849 G C exonic BIVM-ERCC5,ERCC5 NA nonsynonymous SNV ERCC5:NM_000123:exon15:c.G3157C:p.G1053R,BIVM-ERCC5:NM_001204425:exon23:c.G4519C:p.G1507R exonic ENSG00000134899 NA nonsynonymous SNV ENSG00000134899:ENST00000375954:exon6:c.G856C:p.G286R,ENSG00000134899:ENST00000355739:exon15:c.G3157C:p.G1053R NA NA 13q33.1 Score=901;Name=V$CREL_01 NA NA NA rs9514066 1 1 0.999 0.998203 1 1 1 0.9932 1 1 1 1 1 0.9994 1 0.54 T 0.926 P 0.454 P 0.059 N 1.000 P 1.87 L 3.59 T -0.856 T 0.000 T 0.278 3.305 17.11 4.28 1.267 3.255 5.688 3.305158 3.305158 0.13 1 0.99251 NA 0.978 NA 9.3339334 727 1 93580581 93580581 G C exonic MTF2 NA nonsynonymous SNV MTF2:NM_001164393:exon3:c.G113C:p.C38S,MTF2:NM_001164392:exon5:c.G419C:p.C140S,MTF2:NM_007358:exon5:c.G419C:p.C140S,MTF2:NM_001164391:exon6:c.G113C:p.C38S exonic ENSG00000143033 NA nonsynonymous SNV ENSG00000143033:ENST00000540243:exon3:c.G113C:p.C38S,ENSG00000143033:ENST00000370298:exon5:c.G419C:p.C140S,ENSG00000143033:ENST00000370303:exon5:c.G419C:p.C140S,ENSG00000143033:ENST00000545708:exon6:c.G113C:p.C38S Score=675;Name=lod=739 NA 1p22.1 NA NA NA NA rs2815427 1 1 1 0.999201 1 1 1 0.997 1 1 1 1 1 0.9996 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.095 N -1.69 D -0.993 T 0.063 T 0.107 0.426 6.316 5.23 1.210 3.729 15.997 0.426488 NA 1 1 0.996142 NA 1 NA 9.3337334 727 19 17746947 17746947 A G exonic UNC13A NA nonsynonymous SNV UNC13A:NM_001080421:exon25:c.T3101C:p.L1034P exonic ENSG00000130477 NA nonsynonymous SNV ENSG00000130477:ENST00000550896:exon25:c.T3095C:p.L1032P,ENSG00000130477:ENST00000252773:exon26:c.T3101C:p.L1034P,ENSG00000130477:ENST00000519716:exon26:c.T3101C:p.L1034P,ENSG00000130477:ENST00000551649:exon26:c.T3101C:p.L1034P,ENSG00000130477:ENST00000552293:exon26:c.T3101C:p.L1034P,ENSG00000130477:ENST00000428389:exon27:c.T3365C:p.L1122P Score=659;Name=lod=633 NA 19p13.11 Score=891;Name=V$NFKB_Q6 NA NA NA rs4239634 1 1 1 0.999201 1 0.997 1 1 0.999 1 1 1 1 0.9997 1 1 T . . . . 0.000 N 0.000 P -2.005 N -1.16 T -0.952 T 0.000 T 0.174 -0.266 2.722 3.52 0.702 7.608 8.813 -0.266427 NA 1 NA NA NA 1 NA 9.3336334 727 19 55699454 55699454 T C exonic PTPRH NA nonsynonymous SNV PTPRH:NM_001161440:exon11:c.A1933G:p.K645E,PTPRH:NM_002842:exon13:c.A2467G:p.K823E exonic ENSG00000080031 NA nonsynonymous SNV ENSG00000080031:ENST00000263434:exon11:c.A1933G:p.K645E,ENSG00000080031:ENST00000376350:exon13:c.A2467G:p.K823E Score=389;Name=lod=51 NA 19q13.42 NA NA NA NA rs890870 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9998 1 1 T 0.0 B 0.0 B . . 1.000 P -3.4 N 3.32 T -1.002 T 0.000 T 0.166 -1.225 0.06 4.15 1.054 2.035 10.591 -1.225346 NA 1 NA NA NA 1 NA 9.3335334 727 2 26203678 26203678 T C exonic KIF3C NA nonsynonymous SNV KIF3C:NM_002254:exon1:c.A1109G:p.Q370R exonic ENSG00000084731 NA nonsynonymous SNV ENSG00000084731:ENST00000264712:exon1:c.A1109G:p.Q370R,ENSG00000084731:ENST00000417737:exon1:c.A1109G:p.Q370R,ENSG00000084731:ENST00000455394:exon1:c.A1109G:p.Q370R,ENSG00000084731:ENST00000405914:exon2:c.A1109G:p.Q370R Score=635;Name=lod=508 NA 2p23.3 Score=754;Name=V$PPARG_01 NA NA NA rs1465878 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 -0.95 N 1.01 T -0.935 T 0.000 T 0.098 -0.778 0.737 5.32 1.263 2.715 12.966 -0.777687 NA 1 0.999884 0.999773 NA 1 NA 9.3334494 727 19 45561063 45561063 A G exonic CLASRP NA nonsynonymous SNV CLASRP:NM_007056:exon7:c.A520G:p.K174E exonic ENSG00000104859 NA nonsynonymous SNV ENSG00000104859:ENST00000391953:exon6:c.A334G:p.K112E,ENSG00000104859:ENST00000544944:exon6:c.A520G:p.K174E,ENSG00000104859:ENST00000587112:exon6:c.A463G:p.K155E,ENSG00000104859:ENST00000221455:exon7:c.A520G:p.K174E,ENSG00000104859:ENST00000391952:exon7:c.A520G:p.K174E Score=309;Name=lod=24 NA 19q13.32 NA Name=ZNF263 NA NA rs4803794 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.012 B 0.001 B 0.002 N 1.000 P -1.1 N 1.63 T -0.944 T 0.000 T 0.195 0.045 4.245 4.69 1.208 7.032 10.893 0.044519 NA 1 0.999884 1 NA 1 NA 9.3334494 727 5 94772540 94772540 C T exonic FAM81B NA nonsynonymous SNV FAM81B:NM_152548:exon7:c.C823T:p.P275S exonic ENSG00000153347 NA nonsynonymous SNV ENSG00000153347:ENST00000513110:exon1:c.C37T:p.P13S,ENSG00000153347:ENST00000283357:exon7:c.C823T:p.P275S Score=336;Name=lod=31 NA 5q15 NA NA Name=5 NA rs6878669 1 1 1 0.9998 1 1 1 1 0.999 1 1 1 1 0.9999 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.135 N 2.59 T -0.988 T 0.000 T 0.094 -0.182 3.116 4.26 0.913 1.329 7.820 -0.181567 NA 1 NA NA NA 0.986 NA 9.3334334 727 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 727 22 24761467 24761467 G A exonic SPECC1L NA nonsynonymous SNV SPECC1L:NM_001254733:exon5:c.G49A:p.V17M,SPECC1L:NM_001145468:exon12:c.G2851A:p.V951M,SPECC1L:NM_001254732:exon12:c.G2851A:p.V951M,SPECC1L:NM_015330:exon13:c.G2851A:p.V951M exonic ENSG00000100014 NA nonsynonymous SNV ENSG00000100014:ENST00000437398:exon12:c.G2851A:p.V951M,ENSG00000100014:ENST00000541492:exon12:c.G2851A:p.V951M,ENSG00000100014:ENST00000314328:exon13:c.G2851A:p.V951M Score=528;Name=lod=186 NA 22q11.23 Score=811;Name=V$ISRE_01 NA NA NA rs204718 0.9 0.9 1 0.9998 1 0.999 1 1 1 0.9 0.93 0.94 0.86 0.9999 1 0.49 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 3.3 T -1.004 T 0.000 T 0.153 0.594 7.202 3.35 0.365 1.826 5.599 0.593649 NA 0.42 NA NA NA 1 NA 9.3334334 727 1 12175729 12175729 C T exonic TNFRSF8 NA nonsynonymous SNV TNFRSF8:NM_001243:exon8:c.C889T:p.R297C exonic ENSG00000120949 NA nonsynonymous SNV ENSG00000120949:ENST00000417814:exon7:c.C556T:p.R186C,ENSG00000120949:ENST00000263932:exon8:c.C889T:p.R297C Score=355;Name=lod=37 NA 1p36.22 Score=710;Name=V$HOX13_01 NA NA NA rs1763642 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B . . 0.000 P . . -0.37 T -0.939 T 0.000 T 0.115 -0.537 1.558 3.83 0.659 2.017 6.141 -0.537471 NA 1 NA NA NA 1 NA 9.3333334 727 1 228444565 228444565 T A exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001098623:exon15:c.T4523A:p.V1508D,OBSCN:NM_052843:exon15:c.T4523A:p.V1508D,OBSCN:NM_001271223:exon16:c.T4799A:p.V1600D exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000359599:exon1:c.T215A:p.V72D,ENSG00000154358:ENST00000284548:exon15:c.T4523A:p.V1508D,ENSG00000154358:ENST00000422127:exon15:c.T4523A:p.V1508D,ENSG00000154358:ENST00000570156:exon16:c.T4799A:p.V1600D Score=570;Name=lod=277 NA 1q42.13 Score=788;Name=V$CMYB_01 NA NA NA rs7532342 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.001 B 0.001 B 0.001 N 0.000 P -4.01 N 1.1 T -0.939 T 0.000 T 0.295 -1.048 0.197 4.6 0.617 6.585 10.586 -1.048451 NA 1 NA NA NA 0.906 NA 9.3333334 727 3 49928691 49928691 T C exonic MST1R NA nonsynonymous SNV MST1R:NM_001244937:exon16:c.A3436G:p.S1146G,MST1R:NM_002447:exon17:c.A3583G:p.S1195G exonic ENSG00000164078 NA nonsynonymous SNV ENSG00000164078:ENST00000344206:exon16:c.A3436G:p.S1146G,ENSG00000164078:ENST00000296474:exon17:c.A3583G:p.S1195G Score=617;Name=lod=429 NA 3p21.31 NA NA NA NA rs7433231 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 0.983 P -3.455 N 2.23 T -0.948 T 0.000 T 0.588 0.682 7.648 5.07 1.275 5.973 14.055 0.682202 NA 1 NA NA NA 1 NA 9.3333334 727 7 150556055 150556055 C G exonic ABP1 NA nonsynonymous SNV ABP1:NM_001091:exon3:c.C1775G:p.T592R,ABP1:NM_001272072:exon3:c.C1775G:p.T592R exonic ENSG00000002726 NA nonsynonymous SNV ENSG00000002726:ENST00000360937:exon3:c.C1775G:p.T592R,ENSG00000002726:ENST00000416793:exon3:c.C1775G:p.T592R,ENSG00000002726:ENST00000467291:exon5:c.C1775G:p.T592R,ENSG00000002726:ENST00000493429:exon5:c.C1775G:p.T592R Score=403;Name=lod=58 NA 7q36.1 NA NA NA NA rs6943147 0.92 0.92 NA 1 1 1 1 1 1 0.91 0.94 0.96 0.91 1 0.96 0.11 T 0.001 B 0.007 B 0.000 D 1.000 P -1.1 N 3.75 T -0.986 T 0.000 T 0.383 2.355 13.83 4.68 0.712 3.703 14.357 2.355148 2.355148 0.11 NA NA NA NA NA 9.3333334 727 11 433387 433387 A G exonic ANO9 NA nonsynonymous SNV ANO9:NM_001012302:exon4:c.T277C:p.F93L exonic ENSG00000185101 NA nonsynonymous SNV ENSG00000185101:ENST00000332826:exon4:c.T277C:p.F93L Score=272;Name=lod=17 NA 11p15.5 NA NA NA NA rs7395065 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 -1.04 N 0.42 T -0.926 T 0.000 T 0.174 -0.859 0.529 4.08 1.050 3.606 8.536 -0.85882 NA 1 NA NA NA 0.986 NA 9.3333334 727 11 67957518 67957518 A T exonic SUV420H1 NA nonsynonymous SNV SUV420H1:NM_016028:exon2:c.T26A:p.I9N,SUV420H1:NM_017635:exon2:c.T26A:p.I9N exonic ENSG00000110066 NA nonsynonymous SNV ENSG00000110066:ENST00000441488:exon1:c.T26A:p.I9N,ENSG00000110066:ENST00000304363:exon2:c.T26A:p.I9N,ENSG00000110066:ENST00000401547:exon2:c.T26A:p.I9N,ENSG00000110066:ENST00000402185:exon2:c.T26A:p.I9N,ENSG00000110066:ENST00000402789:exon2:c.T26A:p.I9N,ENSG00000110066:ENST00000405515:exon2:c.T26A:p.I9N,ENSG00000110066:ENST00000427752:exon2:c.T26A:p.I9N,ENSG00000110066:ENST00000434573:exon2:c.T26A:p.I9N Score=691;Name=lod=854 NA 11q13.2 NA NA NA NA rs2512606 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 0.998 P -1.245 N 1.32 T -0.934 T 0.000 T 0.332 0.865 8.504 5.77 1.121 5.813 12.697 0.864897 NA 1 NA NA NA 0.993 NA 9.3333334 727 11 74904362 74904362 T C exonic SLCO2B1 NA nonsynonymous SNV SLCO2B1:NM_001145212:exon6:c.T743C:p.I248T,SLCO2B1:NM_001145211:exon9:c.T1109C:p.I370T,SLCO2B1:NM_007256:exon9:c.T1175C:p.I392T exonic ENSG00000137491 NA nonsynonymous SNV ENSG00000137491:ENST00000531756:exon4:c.T410C:p.I137T,ENSG00000137491:ENST00000454962:exon5:c.T494C:p.I165T,ENSG00000137491:ENST00000525650:exon6:c.T743C:p.I248T,ENSG00000137491:ENST00000341411:exon7:c.T494C:p.I165T,ENSG00000137491:ENST00000532236:exon7:c.T827C:p.I276T,ENSG00000137491:ENST00000289575:exon9:c.T1175C:p.I392T,ENSG00000137491:ENST00000428359:exon9:c.T1109C:p.I370T Score=541;Name=lod=210 NA 11q13.4 Score=760;Name=V$E2F_01 NA NA NA rs1621378 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.001 N 1.000 P -2.975 N 1.28 T -0.979 T 0.000 T 0.257 -1.607 0.013 3.3 0.649 2.678 6.692 -1.606836 NA 1 NA NA NA 1 NA 9.3333334 727 11 130780225 130780225 C A exonic SNX19 NA nonsynonymous SNV SNX19:NM_014758:exon3:c.G1854T:p.L618F exonic ENSG00000120451 NA nonsynonymous SNV ENSG00000120451:ENST00000265909:exon3:c.G1854T:p.L618F,ENSG00000120451:ENST00000533214:exon3:c.G1854T:p.L618F,ENSG00000120451:ENST00000539184:exon4:c.G183T:p.L61F Score=544;Name=lod=217 NA 11q24.3 NA NA NA NA rs681982 0.95 0.95 1 NA NA NA NA NA NA 0.96 0.96 0.96 0.91 1 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.12 N 1.6 T -0.970 T 0.000 T 0.257 0.103 4.552 3.63 0.508 1.931 6.829 0.102506 NA 1 NA NA NA 1 NA 9.3333334 727 12 111786082 111786082 G C exonic CUX2 NA nonsynonymous SNV CUX2:NM_015267:exon22:c.G4414C:p.V1472L exonic ENSG00000111249 NA nonsynonymous SNV ENSG00000111249:ENST00000261726:exon22:c.G4414C:p.V1472L Score=614;Name=lod=417 NA 12q24.12 NA NA NA NA rs6490073 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 -2.175 N 2.23 T -0.967 T 0.000 T 0.232 0.21 5.132 4.25 1.275 2.224 11.741 0.209944 NA 1 NA NA NA 1 NA 9.3333334 727 14 24567498 24567498 A C exonic PCK2 NA nonsynonymous SNV PCK2:NM_001018073:exon3:c.A362C:p.Q121P,PCK2:NM_004563:exon3:c.A362C:p.Q121P exonic ENSG00000100889 NA nonsynonymous SNV ENSG00000100889:ENST00000216780:exon3:c.A362C:p.Q121P,ENSG00000100889:ENST00000396973:exon3:c.A362C:p.Q121P,ENSG00000100889:ENST00000559250:exon3:c.A398C:p.Q133P Score=514;Name=lod=164 NA 14q11.2 NA NA NA NA rs3021119 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 0.000 P -3.895 N 4.09 T -0.960 T 0.000 T 0.246 -0.06 3.71 5.19 1.200 5.787 13.06 -0.059823 NA 1 NA NA NA 1 NA 9.3333334 727 14 31582380 31582380 A G exonic HECTD1 NA nonsynonymous SNV HECTD1:NM_015382:exon34:c.T6080C:p.L2027P exonic ENSG00000092148 NA nonsynonymous SNV ENSG00000092148:ENST00000553957:exon25:c.T4361C:p.L1454P,ENSG00000092148:ENST00000399332:exon34:c.T6080C:p.L2027P,ENSG00000092148:ENST00000553700:exon34:c.T6080C:p.L2027P Score=656;Name=lod=618 NA 14q12 Score=829;Name=V$FREAC4_01 NA NA NA rs1315794 1 1 1 0.999601 1 0.998 1 1 1 1 1 1 1 1 1 0.38 T 0.0 B 0.0 B 0.076 N 0.000 P 0.93 L 3.1 T -1.010 T 0.000 T 0.386 1.328 10.36 2.4 0.287 3.128 8.722 1.328069 1.328069 0.33 NA NA NA 0.978 NA 9.3333334 727 14 61445967 61445967 A G exonic TRMT5 NA nonsynonymous SNV TRMT5:NM_020810:exon2:c.T649C:p.S217P exonic ENSG00000126814 NA nonsynonymous SNV ENSG00000126814:ENST00000261249:exon2:c.T649C:p.S217P Score=600;Name=lod=366 NA 14q23.1 NA NA NA NA rs7142228 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 0.999 P -2.78 N 2.14 T -0.957 T 0.000 T 0.19 0.652 7.499 4.84 1.259 5.214 13.441 0.652301 NA 1 NA NA NA 1 NA 9.3333334 727 14 103934488 103934488 T C exonic MARK3 NA nonsynonymous SNV MARK3:NM_001128921:exon11:c.T992C:p.F331S,MARK3:NM_001128918:exon12:c.T1229C:p.F410S,MARK3:NM_001128919:exon12:c.T1229C:p.F410S,MARK3:NM_001128920:exon12:c.T1181C:p.F394S,MARK3:NM_002376:exon12:c.T1229C:p.F410S exonic ENSG00000075413 NA nonsynonymous SNV ENSG00000075413:ENST00000440884:exon11:c.T992C:p.F331S,ENSG00000075413:ENST00000216288:exon12:c.T1181C:p.F394S,ENSG00000075413:ENST00000303622:exon12:c.T1229C:p.F410S,ENSG00000075413:ENST00000429436:exon12:c.T1229C:p.F410S,ENSG00000075413:ENST00000553942:exon12:c.T1229C:p.F410S,ENSG00000075413:ENST00000335102:exon13:c.T1298C:p.F433S,ENSG00000075413:ENST00000416682:exon13:c.T1298C:p.F433S Score=533;Name=lod=195 NA 14q32.32 NA NA NA NA rs10137161 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 0.927 P -1.87 N 0.23 T -0.931 T 0.000 T 0.387 1.502 10.97 5.63 1.399 5.871 14.802 1.50178 1.50178 1 NA NA NA 1 NA 9.3333334 727 18 21511089 21511089 A G exonic LAMA3 NA nonsynonymous SNV LAMA3:NM_001127718:exon27:c.A3505G:p.S1169G,LAMA3:NM_000227:exon28:c.A3673G:p.S1225G,LAMA3:NM_001127717:exon64:c.A8332G:p.S2778G,LAMA3:NM_198129:exon65:c.A8500G:p.S2834G exonic ENSG00000053747 NA nonsynonymous SNV ENSG00000053747:ENST00000587184:exon27:c.A3505G:p.S1169G,ENSG00000053747:ENST00000269217:exon28:c.A3673G:p.S1225G,ENSG00000053747:ENST00000399516:exon64:c.A8332G:p.S2778G,ENSG00000053747:ENST00000313654:exon65:c.A8500G:p.S2834G NA NA 18q11.2 NA NA NA NA rs1154233 1 1 NA 1 1 1 1 1 1 1 1 1 1 1 1 0.49 T 0.0 B 0.001 B . . 1.000 P 2.075 M 2.28 T -0.965 T 0.000 T 0.043 -0.316 2.499 -8.76 -1.199 -1.256 7.883 -0.315557 NA 0.18 NA NA NA 0.993 NA 9.3333334 727 19 3150238 3150238 A G exonic GNA15 NA nonsynonymous SNV GNA15:NM_002068:exon3:c.A440G:p.Y147C exonic ENSG00000060558 NA nonsynonymous SNV ENSG00000060558:ENST00000262958:exon3:c.A440G:p.Y147C Score=489;Name=lod=129 NA 19p13.3 NA NA NA NA rs310680 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 0.988 P -2.93 N -2.3 D -0.940 T 0.000 T 0.287 -1.331 0.032 3.83 0.832 3.942 6.127 -1.33067 NA 1 NA NA NA 1 NA 9.3333334 727 19 41743861 41743861 A G exonic AXL NA nonsynonymous SNV AXL:NM_001699:exon7:c.A796G:p.N266D,AXL:NM_021913:exon7:c.A796G:p.N266D exonic ENSG00000167601 NA nonsynonymous SNV ENSG00000167601:ENST00000301178:exon7:c.A796G:p.N266D,ENSG00000167601:ENST00000359092:exon7:c.A796G:p.N266D NA NA 19q13.2 Score=893;Name=V$MEIS1_01 NA NA NA rs7249222 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.98 T 0.0 B 0.0 B 0.664 N 1.000 P -0.69 N 0.4 T -0.965 T 0.000 T 0.07 -1.965 0.007 4.11 1.068 1.570 6.745 -1.964564 NA 1 NA NA NA 1 NA 9.3333334 727 19 50383591 50383591 A G exonic TBC1D17 NA nonsynonymous SNV TBC1D17:NM_001168222:exon3:c.A152G:p.D51G,TBC1D17:NM_024682:exon4:c.A251G:p.D84G exonic ENSG00000104946 NA nonsynonymous SNV ENSG00000104946:ENST00000535102:exon3:c.A152G:p.D51G,ENSG00000104946:ENST00000221543:exon4:c.A251G:p.D84G Score=486;Name=lod=126 NA 19q13.33 Score=822;Name=V$HNF4_01 NA NA NA rs8109661 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.62 T 0.0 B 0.0 B 0.000 N 0.998 P -1.525 N 1.83 T -0.972 T 0.000 T 0.164 0.107 4.576 4.17 0.598 6.991 9.915 0.106997 NA 1 NA NA NA 0.993 NA 9.3333334 727 21 10920098 10920098 T C exonic TPTE NA nonsynonymous SNV TPTE:NM_199260:exon17:c.A1042G:p.K348E,TPTE:NM_199259:exon18:c.A1102G:p.K368E,TPTE:NM_199261:exon19:c.A1156G:p.K386E exonic ENSG00000166157 NA nonsynonymous SNV ENSG00000166157:ENST00000342420:exon17:c.A1042G:p.K348E,ENSG00000166157:ENST00000298232:exon18:c.A1102G:p.K368E,ENSG00000166157:ENST00000361285:exon19:c.A1156G:p.K386E Score=352;Name=lod=36 NA 21p11.1 NA NA NA NA rs212146 0.92 0.92 1 1 1 1 1 1 1 0.93 0.94 0.95 0.88 1 1 1 T 0.0 B 0.001 B 0.000 N 1.000 P -2.8 N -4.85 D -0.916 T 0.000 T 0.227 -2.236 0.005 2.32 0.326 2.842 5.284 -2.236165 NA 1 NA NA NA 1 NA 9.3333334 727 21 35469193 35469193 C A exonic SLC5A3 NA nonsynonymous SNV SLC5A3:NM_006933:exon2:c.C1696A:p.Q566K exonic ENSG00000198743 NA nonsynonymous SNV ENSG00000198743:ENST00000381151:exon2:c.C1696A:p.Q566K Score=429;Name=lod=74 NA 21q22.11 Score=831;Name=V$BRN2_01 NA NA NA rs4817617 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.77 T 0.0 B 0.0 B 0.392 N 0.000 P -0.345 N -0.01 T -0.972 T 0.000 T 0.044 -0.027 3.875 3.59 0.544 2.403 8.165 -0.02711 NA 1 NA NA NA 1 NA 9.3333334 727 22 45789642 45789642 A C exonic SMC1B NA nonsynonymous SNV SMC1B:NM_148674:exon9:c.T1417G:p.F473V exonic ENSG00000077935 NA nonsynonymous SNV ENSG00000077935:ENST00000357450:exon9:c.T1417G:p.F473V,ENSG00000077935:ENST00000404354:exon9:c.T1417G:p.F473V Score=468;Name=lod=106 NA 22q13.31 NA Name=CTCF NA NA rs136603 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.35 T 0.0 B 0.0 B 0.000 N 1.000 P -2.42 N 3.92 T -0.917 T 0.000 T 0.158 0.05 4.276 5.01 0.810 1.822 7.02 0.050336 NA 1 NA NA NA 1 NA 9.3333334 727 2 109414936 109414936 G T exonic CCDC138 NA nonsynonymous SNV CCDC138:NM_144978:exon6:c.G629T:p.R210L exonic ENSG00000163006 NA nonsynonymous SNV ENSG00000163006:ENST00000295124:exon6:c.G629T:p.R210L,ENSG00000163006:ENST00000412964:exon6:c.G629T:p.R210L NA NA 2q12.3 NA NA NA NA rs147076589 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008249 0.0001 0.26 T 0.302 B 0.138 B 0.977 N 1.000 N 1.61 L -2.71 D -0.881 T 0.141 T 0.3 1.528 11.06 -3.58 -0.568 -0.075 13.527 1.527569 1.527569 0.24 0.000116 0 NA NA NA 9.3332092 727 11 60183132 60183132 G C exonic MS4A14 NA nonsynonymous SNV MS4A14:NM_001079692:exon4:c.G640C:p.D214H,MS4A14:NM_001261827:exon5:c.G739C:p.D247H,MS4A14:NM_032597:exon5:c.G691C:p.D231H,MS4A14:NM_001261828:exon6:c.G790C:p.D264H exonic ENSG00000166928 NA nonsynonymous SNV ENSG00000166928:ENST00000531787:exon3:c.G355C:p.D119H,ENSG00000166928:ENST00000395005:exon4:c.G640C:p.D214H,ENSG00000166928:ENST00000300187:exon5:c.G691C:p.D231H,ENSG00000166928:ENST00000531783:exon6:c.G790C:p.D264H NA NA 11q12.2 NA NA NA NA rs150268605 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.00004961 0.0028 0.11 T 0.34 B 0.061 B 0.004 N 1.000 N 0.975 L 2.84 T -1.086 T 0.052 T 0.285 0.878 8.562 -4.69 -1.148 0.108 1.095 0.877989 NA 0.01 0.000116 0 NA NA NA 9.3331678 727 5 118835033 118835033 C T exonic HSD17B4 NA nonsynonymous SNV HSD17B4:NM_001199292:exon12:c.C940T:p.L314F,HSD17B4:NM_000414:exon13:c.C994T:p.L332F,HSD17B4:NM_001199291:exon14:c.C1069T:p.L357F exonic ENSG00000133835 NA nonsynonymous SNV ENSG00000133835:ENST00000513628:exon8:c.C583T:p.L195F,ENSG00000133835:ENST00000509514:exon9:c.C208T:p.L70F,ENSG00000133835:ENST00000515320:exon12:c.C940T:p.L314F,ENSG00000133835:ENST00000256216:exon13:c.C994T:p.L332F,ENSG00000133835:ENST00000414835:exon13:c.C574T:p.L192F,ENSG00000133835:ENST00000442060:exon13:c.C994T:p.L332F,ENSG00000133835:ENST00000504811:exon14:c.C1069T:p.L357F,ENSG00000133835:ENST00000510025:exon14:c.C922T:p.L308F NA NA 5q23.1 NA NA NA NA rs370579120 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005799 0.0001 0.75 T 0.009 B 0.009 B 0.008 N 0.676 D 0.39 N -1.22 T -0.952 T 0.168 T 0.16 -0.563 1.459 -1.54 -0.036 -1.231 5.753 -0.563017 NA 0.17 0.000116 0 NA NA NA 9.3331594 727 8 99148791 99148791 A G exonic POP1 NA nonsynonymous SNV POP1:NM_001145860:exon8:c.A1093G:p.T365A,POP1:NM_001145861:exon8:c.A1093G:p.T365A,POP1:NM_015029:exon8:c.A1093G:p.T365A exonic ENSG00000104356 NA nonsynonymous SNV ENSG00000104356:ENST00000349693:exon8:c.A1093G:p.T365A,ENSG00000104356:ENST00000401707:exon8:c.A1093G:p.T365A NA NA 8q22.2 NA NA NA NA rs200569474 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0002 0.74 T 0.011 B 0.009 B 0.165 N 1.000 N 2.2 M 1.22 T -0.976 T 0.065 T 0.039 0.197 5.062 -1.03 -0.412 1.118 3.493 0.197167 NA 0.29 0.000233 0 NA NA NA 9.3330004 727 5 82554375 82554375 A G exonic XRCC4 NA nonsynonymous SNV XRCC4:NM_003401:exon7:c.A772G:p.I258V,XRCC4:NM_022406:exon7:c.A772G:p.I258V,XRCC4:NM_022550:exon7:c.A772G:p.I258V exonic ENSG00000152422 NA nonsynonymous SNV ENSG00000152422:ENST00000282268:exon7:c.A772G:p.I258V,ENSG00000152422:ENST00000338635:exon7:c.A772G:p.I258V,ENSG00000152422:ENST00000396027:exon7:c.A772G:p.I258V,ENSG00000152422:ENST00000511817:exon7:c.A772G:p.I258V Score=499;Name=lod=142 NA 5q14.2 Score=684;Name=V$BRACH_01 NA NA NA rs141122119 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0005 1 T 0.128 B 0.068 B 0.079 N 1.000 N 1.04 L 2.83 T -0.965 T 0.013 T 0.064 1.36 10.47 -0.566 -0.023 0.012 1.461 1.360112 1.360112 0.66 0.000465 0.000227 NA NA NA 9.3326684 727 11 76506691 76506691 G A exonic TSKU NA nonsynonymous SNV TSKU:NM_001258210:exon2:c.G31A:p.V11M,TSKU:NM_015516:exon2:c.G31A:p.V11M exonic ENSG00000182704 NA nonsynonymous SNV ENSG00000182704:ENST00000333090:exon2:c.G31A:p.V11M,ENSG00000182704:ENST00000525167:exon2:c.G31A:p.V11M,ENSG00000182704:ENST00000527881:exon2:c.G31A:p.V11M,ENSG00000182704:ENST00000533752:exon2:c.G31A:p.V11M NA NA 11q13.5 NA NA NA NA rs202220235 NA NA NA 0.000199681 NA NA NA 0.0008 NA NA NA NA NA 0.0003 0.0005 0.03 D 0.001 B 0.001 B 0.623 N 1.000 N 0.345 N 1.35 T -1.012 T 0.076 T 0.256 0.445 6.415 -1.92 -0.049 -1.616 1.585 0.444753 NA 0.07 0.000466 0.000227 NA NA NA 9.3325674 727 7 25181912 25181912 T C exonic C7orf31 NA nonsynonymous SNV C7orf31:NM_138811:exon9:c.A899G:p.H300R exonic ENSG00000153790 NA nonsynonymous SNV ENSG00000153790:ENST00000283905:exon9:c.A899G:p.H300R,ENSG00000153790:ENST00000409280:exon9:c.A899G:p.H300R Score=583;Name=lod=311 NA 7p15.3 NA NA NA NA rs2285738 0.55 0.55 0.534 0.545927 0.6769 0.4732 0.6124 0.388 0.6524 0.67 0.48 0.61 0.4 0.6414 0.68 0.19 T 0.047 B 0.032 B 0.004 N 0.803 P 1.3 L 3.34 T -1.074 T 0.000 T 0.111 2.263 13.52 4.6 0.975 3.591 10.448 2.262555 2.262555 0.24 0.682791 0.424875 NA 0.551 NA 9.3322424 727 4 57839405 57839405 T C exonic NOA1 NA nonsynonymous SNV NOA1:NM_032313:exon3:c.A1424G:p.H475R exonic ENSG00000084092 NA nonsynonymous SNV ENSG00000084092:ENST00000264230:exon3:c.A1424G:p.H475R NA NA 4q12 NA Name=SETDB1 NA NA rs199906201 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0001 0.0013 0.61 T 0.0 B 0.0 B 0.002 N 1.000 N -0.475 N 1.59 T -1.012 T 0.033 T 0.02 -1.107 0.137 -3.37 -0.444 0.323 11.351 -1.106778 NA 0.66 0.000233 0 NA NA NA 9.3320004 727 17 76447713 76447713 C A exonic DNAH17 NA nonsynonymous SNV DNAH17:NM_173628:exon66:c.G10572T:p.K3524N exonic ENSG00000187775 NA nonsynonymous SNV ENSG00000187775:ENST00000389840:exon66:c.G10530T:p.K3510N,ENSG00000187775:ENST00000585328:exon66:c.G10557T:p.K3519N NA NA 17q25.3 NA NA NA NA rs140747982 NA NA NA 0.000599042 NA NA NA NA 0.0031 NA NA NA NA 0.0009 0.0006 1 T 0.0 B 0.001 B 0.352 N 1.000 N -1.2 N 1.8 T -1.057 T 0.014 T 0.041 -1.547 0.015 -10.4 -2.995 -2.250 7.701 -1.546869 NA 1 0.000581 0.000227 NA NA NA 9.3318524 727 15 40655845 40655845 C G exonic DISP2 NA nonsynonymous SNV DISP2:NM_033510:exon2:c.C139G:p.P47A exonic ENSG00000140323 NA nonsynonymous SNV ENSG00000140323:ENST00000267889:exon2:c.C139G:p.P47A Score=479;Name=lod=118 NA 15q15.1 Score=733;Name=V$SEF1_C NA NA NA rs1898883 0.73 0.73 0.672 0.726038 0.6292 0.8274 0.7435 0.6717 0.7822 0.66 0.86 0.73 0.7 0.7131 0.86 1 T 0.0 B 0.0 B 0.176 N 1.000 P -1.1 N 2.98 T -1.003 T 0.000 T 0.036 -0.473 1.819 4.26 0.783 1.695 8.223 -0.472695 NA 1 0.659419 0.667726 NA 0.652 NA 9.3316144 727 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 727 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 727 1 201195119 201195119 C T exonic IGFN1 NA nonsynonymous SNV IGFN1:NM_001164586:exon22:c.C10654T:p.H3552Y exonic ENSG00000163395 NA nonsynonymous SNV ENSG00000163395:ENST00000335211:exon22:c.C10654T:p.H3552Y Score=441;Name=lod=83 NA 1q32.1 NA NA NA NA rs3738270 0.61 0.61 0.561 0.567692 0.7038 0.8313 0.5893 0.1989 0.6391 0.71 0.83 0.61 0.22 0.6315 0.83 0.14 T 0.076 B 0.11 B 0.005 N 0.000 P 1.245 L 0.4 T -1.033 T 0.000 T 0.19 -1.017 0.236 3.09 1.344 2.889 6.551 -1.017435 NA 1 0.668837 0.290513 ID=COSM424999,COSM424998;OCCURENCE=2(breast),1(large_intestine) 0.428 NA 9.3291964 727 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=GABP,E2F6,E2F6_(H-50),Pol2 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 727 X 26157220 26157220 C T exonic MAGEB18 NA nonsynonymous SNV MAGEB18:NM_173699:exon2:c.C118T:p.P40S exonic ENSG00000176774 NA nonsynonymous SNV ENSG00000176774:ENST00000325250:exon2:c.C118T:p.P40S NA NA Xp21.3 NA NA NA NA rs5944317 0.68 0.68 0.67091 NA NA NA NA NA NA 0.42 0.91 0.68 0.82 0.5827 0.91 1 T 0.001 B 0.0 B 0.061 N 1.000 P -1.7 N 4.36 T -0.920 T 0.000 T 0.095 -1.458 0.019 -6.57 -2.305 -3.829 12.809 -1.457964 NA 1 0.421522 0.793634 NA 0.522 NA 9.3291114 727 9 117853237 117853237 C T exonic TNC NA nonsynonymous SNV TNC:NM_002160:exon2:c.G61A:p.E21K exonic ENSG00000041982 NA nonsynonymous SNV ENSG00000041982:ENST00000341037:exon1:c.G61A:p.E21K,ENSG00000041982:ENST00000537320:exon1:c.G61A:p.E21K,ENSG00000041982:ENST00000542877:exon1:c.G61A:p.E21K,ENSG00000041982:ENST00000340094:exon2:c.G61A:p.E21K,ENSG00000041982:ENST00000345230:exon2:c.G61A:p.E21K,ENSG00000041982:ENST00000346706:exon2:c.G61A:p.E21K,ENSG00000041982:ENST00000350763:exon2:c.G61A:p.E21K,ENSG00000041982:ENST00000423613:exon2:c.G61A:p.E21K,ENSG00000041982:ENST00000535648:exon2:c.G61A:p.E21K,ENSG00000041982:ENST00000534839:exon3:c.G61A:p.E21K NA NA 9q33.1 NA NA NA NA rs141126037 0.0009 0.0009 NA 0.000798722 0.003 NA 0.0014 NA NA 0.0026 NA NA NA 0.0009 0.0026 0.06 T 0.06 B 0.016 B 0.086 N 1.000 N 0.55 N 1.43 T -1.048 T 0.044 T 0.188 0.798 8.201 3.53 1.253 -0.099 7.262 0.798158 NA 0.06 0.001163 0.000454 NA NA NA 9.3282704 727 4 2200366 2200366 G A exonic POLN NA nonsynonymous SNV POLN:NM_181808:exon4:c.C793T:p.P265S exonic ENSG00000130997 NA nonsynonymous SNV ENSG00000130997:ENST00000382865:exon4:c.C793T:p.P265S,ENSG00000130997:ENST00000511885:exon6:c.C793T:p.P265S NA NA 4p16.3 NA NA NA NA rs140869775 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0019 0.004 0.94 T 0.002 B 0.001 B 0.000 N 1.000 N -0.09 N 3.47 T -0.947 T 0.008 T 0.145 0.753 7.989 -5.09 -1.052 -0.243 8.032 0.752865 NA 0.39 0.003953 0.000227 NA NA NA 9.3274804 727 2 188348943 188348943 G A exonic TFPI NA nonsynonymous SNV TFPI:NM_001032281:exon6:c.C536T:p.P179L,TFPI:NM_006287:exon6:c.C536T:p.P179L exonic ENSG00000003436 NA nonsynonymous SNV ENSG00000003436:ENST00000435414:exon5:c.C497T:p.P166L,ENSG00000003436:ENST00000233156:exon6:c.C536T:p.P179L,ENSG00000003436:ENST00000339091:exon6:c.C536T:p.P179L,ENSG00000003436:ENST00000392365:exon6:c.C536T:p.P179L,ENSG00000003436:ENST00000426055:exon6:c.C536T:p.P179L,ENSG00000003436:ENST00000409676:exon7:c.C536T:p.P179L NA NA 2q32.1 NA NA NA NA rs140515889 0.0014 0.0014 NA 0.000998403 0.002 NA 0.0043 NA NA 0.0026 NA 0.0028 NA 0.0018 0.0028 0.32 T 0.0 B 0.0 B 0.001 N 1.000 N -1.59 N 0.39 T -0.970 T 0.058 T 0.173 0.205 5.108 -9.99 -2.068 -0.612 3.848 0.205469 NA 0.4 0.002093 0.000454 NA NA NA 9.3274404 727 20 1600524 1600524 T C exonic SIRPB1 NA nonsynonymous SNV SIRPB1:NM_001083910:exon1:c.A67G:p.R23G,SIRPB1:NM_001135844:exon1:c.A67G:p.R23G,SIRPB1:NM_006065:exon1:c.A67G:p.R23G exonic ENSG00000101307,ENSG00000260861 NA nonsynonymous SNV ENSG00000101307:ENST00000279477:exon1:c.A67G:p.R23G,ENSG00000101307:ENST00000381603:exon1:c.A67G:p.R23G,ENSG00000101307:ENST00000381605:exon1:c.A67G:p.R23G,ENSG00000260861:ENST00000564763:exon1:c.A67G:p.R23G,ENSG00000101307:ENST00000568365:exon1:c.A67G:p.R23G NA NA 20p13 NA Name=Pol2 Name=17 NA rs1535882 0.28 0.28 0.244 0.243011 0.3499 0.2212 0.4164 0.1263 0.1902 0.36 0.23 0.37 0.14 0.3141 0.37 0.35 T 0.0 B 0.0 B 0.013 N 1.000 P 0 N 4.83 T -0.899 T 0.000 T 0.049 -0.87 0.502 0.15 -1.047 -0.970 . -0.870473 NA 0.22 0.342558 0.162052 ID=COSM1179792,COSM1179791;OCCURENCE=1(prostate) 0.355 NA 9.3267754 727 16 57201066 57201066 T A exonic FAM192A NA nonsynonymous SNV FAM192A:NM_024946:exon5:c.A421T:p.I141L exonic ENSG00000172775 NA nonsynonymous SNV ENSG00000172775:ENST00000389447:exon4:c.A421T:p.I141L,ENSG00000172775:ENST00000309137:exon5:c.A421T:p.I141L,ENSG00000172775:ENST00000562324:exon5:c.A421T:p.I141L,ENSG00000172775:ENST00000566077:exon5:c.A190T:p.I64L,ENSG00000172775:ENST00000567439:exon5:c.A421T:p.I141L,ENSG00000172775:ENST00000569266:exon5:c.A421T:p.I141L,ENSG00000172775:ENST00000564108:exon6:c.A421T:p.I141L,ENSG00000172775:ENST00000565458:exon6:c.A421T:p.I141L,ENSG00000172775:ENST00000567044:exon6:c.A421T:p.I141L NA NA 16q13 NA Name=PU.1 Name=71 NA rs143746498 0.0009 0.0009 0.001 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0015 0.0033 0.31 T 0.0 B 0.0 B 0.360 N 1.000 N 0.755 N . . -1.038 T 0.060 T 0.16 -0.138 3.326 0.348 0.116 0.031 6.369 -0.137639 NA 0.68 0.003259 0.000516 NA NA NA 9.3265744 727 6 90661242 90661242 C T exonic BACH2 NA nonsynonymous SNV BACH2:NM_001170794:exon5:c.G583A:p.A195T,BACH2:NM_021813:exon7:c.G583A:p.A195T exonic ENSG00000112182 NA nonsynonymous SNV ENSG00000112182:ENST00000343122:exon5:c.G583A:p.A195T,ENSG00000112182:ENST00000537989:exon5:c.G583A:p.A195T,ENSG00000112182:ENST00000257749:exon7:c.G583A:p.A195T NA NA 6q15 Score=727;Name=V$SEF1_C Name=CTCF NA NA rs143586122 0.0018 0.0018 NA 0.000599042 0.002 NA 0.0014 NA NA 0.01 NA NA NA 0.002 0.01 0.7 T 0.001 B 0.001 B 0.774 N 1.000 N -0.205 N 1.21 T -0.928 T 0.013 T 0.04 -1.697 0.011 -1.39 -0.315 -0.208 12.722 -1.696582 NA 0.59 0.002791 0.000227 NA NA NA 9.3265424 727 14 105418391 105418391 C T exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.G3397A:p.V1133I exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.G3397A:p.V1133I NA NA 14q32.33 NA NA NA NA rs11625007 0.41 0.41 0.434 NA NA NA NA NA NA 0.51 0.32 0.4 0.37 0.4752 0.53 0.7 T 0.017 B 0.006 B . . 1.000 P -0.15 N 5.67 T -0.983 T 0.000 T 0.031 0.009 4.059 -7.74 -1.837 -6.041 4.085 0.008661 NA 0.86 0.531612 0.388374 ID=COSM1368639;OCCURENCE=1(large_intestine),2(central_nervous_system) 0.377 NA 9.3265214 727 21 30339120 30339120 C A exonic LTN1 NA nonsynonymous SNV LTN1:NM_015565:exon10:c.G1831T:p.G611C exonic ENSG00000198862 NA nonsynonymous SNV ENSG00000198862:ENST00000361371:exon10:c.G1693T:p.G565C,ENSG00000198862:ENST00000389194:exon10:c.G1831T:p.G611C,ENSG00000198862:ENST00000389195:exon10:c.G1831T:p.G611C NA NA 21q21.3 Score=801;Name=V$IRF2_01 NA NA NA rs34191159 0.23 0.23 0.212 0.19369 0.1779 0.3849 0.255 0.087 0.1135 0.18 0.41 0.24 0.1 0.1722 0.41 0.1 T 0.997 D 0.781 P 0.954 N 1.000 P 0.345 N 2.16 T -0.909 T 0.000 T 0.256 1.218 9.941 1.97 0.318 0.745 6.509 1.217596 NA 0.02 0.157093 0.095778 NA 0.123 NA 9.3261404 727 4 139093119 139093119 A T exonic SLC7A11 NA nonsynonymous SNV SLC7A11:NM_014331:exon12:c.T1497A:p.D499E exonic ENSG00000151012 NA nonsynonymous SNV ENSG00000151012:ENST00000280612:exon12:c.T1497A:p.D499E Score=520;Name=lod=173 NA 4q28.3 NA NA NA NA rs141122045 0.0018 0.0018 0.002 0.000998403 0.004 NA 0.0014 NA NA 0.01 NA NA NA 0.0017 0.01 0.89 T 0.0 B 0.0 B 0.016 N 1.000 N 0.62 N -2.57 D -0.826 T 0.298 T 0.281 0.141 4.756 0.296 -0.068 -0.172 7.465 0.140626 NA 0.78 0.002327 0.000227 NA NA NA 9.3253064 728 20 19654276 19654276 C G exonic SLC24A3 NA nonsynonymous SNV SLC24A3:NM_020689:exon9:c.C745G:p.L249V exonic ENSG00000185052 NA nonsynonymous SNV ENSG00000185052:ENST00000328041:exon9:c.C745G:p.L249V NA NA 20p11.23 Score=829;Name=V$EVI1_03 NA NA NA rs148897045 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.003 0.0053 . . 0.0 B 0.004 B 0.930 N 1.000 N -0.485 N 0.04 T -1.054 T 0.047 T 0.152 -0.737 0.855 -3.3 -0.380 -0.284 1.099 -0.737177 NA 0.76 0.005349 0.001135 NA NA NA 9.3249844 728 3 73433369 73433369 G A exonic PDZRN3 NA nonsynonymous SNV PDZRN3:NM_015009:exon10:c.C2348T:p.A783V exonic ENSG00000121440 NA nonsynonymous SNV ENSG00000121440:ENST00000462146:exon8:c.C1319T:p.A440V,ENSG00000121440:ENST00000466780:exon8:c.C1319T:p.A440V,ENSG00000121440:ENST00000479530:exon8:c.C1499T:p.A500V,ENSG00000121440:ENST00000492909:exon8:c.C1442T:p.A481V,ENSG00000121440:ENST00000535920:exon8:c.C1514T:p.A505V,ENSG00000121440:ENST00000263666:exon10:c.C2348T:p.A783V NA NA 3p13 NA NA NA NA rs3205537 0.32 0.32 0.282 0.272364 0.3549 0.4435 0.3415 0.0635 0.2444 0.37 0.47 0.33 0.08 0.3232 0.47 0.37 T 0.174 B 0.011 B 0.134 N 0.993 P 1.79 L 3.62 T -0.903 T 0.000 T 0.165 -0.547 1.52 4.05 1.030 2.975 13.179 -0.547126 NA 0.42 0.331512 0.106219 NA 0.283 NA 9.3237214 728 7 1049749 1049749 C A exonic C7orf50 NA nonsynonymous SNV C7orf50:NM_001134395:exon3:c.G160T:p.A54S,C7orf50:NM_001134396:exon3:c.G160T:p.A54S,C7orf50:NM_032350:exon3:c.G160T:p.A54S exonic ENSG00000146540 NA nonsynonymous SNV ENSG00000146540:ENST00000444428:exon2:c.G64T:p.A22S,ENSG00000146540:ENST00000357429:exon3:c.G160T:p.A54S,ENSG00000146540:ENST00000397098:exon3:c.G160T:p.A54S,ENSG00000146540:ENST00000397100:exon3:c.G160T:p.A54S,ENSG00000146540:ENST00000491163:exon3:c.G160T:p.A54S NA NA 7p22.3 NA NA NA NA rs34458355 0.0014 0.0014 0.004 0.00119808 0.002 NA 0.0014 0.0015 0.001 0.0026 NA NA 0.002 0.0043 0.0048 0.74 T 0.01 B 0.004 B 0.316 N 1.000 N 1.04 L . . -1.007 T 0.048 T 0.171 0.745 7.953 -5.26 -1.208 -0.409 0.405 0.74523 NA 0.08 0.004769 0.002273 NA NA NA 9.3222644 728 15 50189566 50189566 A G exonic ATP8B4 NA nonsynonymous SNV ATP8B4:NM_024837:exon23:c.T2620C:p.C874R exonic ENSG00000104043 NA nonsynonymous SNV ENSG00000104043:ENST00000284509:exon23:c.T2620C:p.C874R,ENSG00000104043:ENST00000559829:exon23:c.T2620C:p.C874R Score=697;Name=lod=911 NA 15q21.2 NA NA NA NA rs74012834 0.0041 0.0041 0.003 0.00459265 0.005 NA 0.0014 0.0068 0.0082 0.0026 NA 0.0028 0.01 0.0057 0.01 0.73 T 0.0 B 0.001 B 0.002 N 1.000 D 0.69 N -0.46 T -1.050 T 0.093 T 0.428 -0.474 1.814 0.616 -0.135 0.139 8.820 -0.473962 NA 0.53 0.00454 0.009791 NA NA NA 9.3180934 728 11 60636698 60636698 G A exonic ZP1 NA nonsynonymous SNV ZP1:NM_207341:exon2:c.G277A:p.V93I exonic ENSG00000149506 NA nonsynonymous SNV ENSG00000149506:ENST00000278853:exon2:c.G277A:p.V93I NA NA 11q12.2 NA NA NA NA rs145067883 0.0014 0.0014 0.002 0.00119808 0.003 NA NA NA 0.0031 0.004 NA NA NA 0.0059 0.0064 0.04 D 0.096 B 0.014 B 0.003 N 1.000 N 1.61 L 1.61 T -1.040 T 0.039 T 0.187 1.889 12.27 2.13 0.922 0.713 3.968 1.888594 1.888594 0.23 0.006397 0.001135 NA NA NA 9.3180364 728 9 100991430 100991430 C A exonic TBC1D2 NA nonsynonymous SNV TBC1D2:NM_001267571:exon5:c.G782T:p.G261V,TBC1D2:NM_018421:exon5:c.G782T:p.G261V exonic ENSG00000095383 NA nonsynonymous SNV ENSG00000095383:ENST00000342112:exon4:c.G128T:p.G43V,ENSG00000095383:ENST00000375064:exon5:c.G782T:p.G261V,ENSG00000095383:ENST00000375066:exon5:c.G782T:p.G261V NA NA 9q22.33 NA Name=MafF_(M8194),MafK_(SC-477) NA NA rs1573025 0.17 0.17 0.165 0.163938 0.1779 0.1597 0.2017 0.1384 0.1616 0.18 0.16 0.22 0.13 0.1692 0.23 0.34 T 0.959 D 0.564 P 0.147 N 0.243 P 1.645 L 3.14 T -0.987 T 0.000 T 0.073 0.965 8.935 1.59 0.142 0.447 3.32 0.964516 NA 0.08 0.169651 0.135043 NA 0.196 NA 9.3165824 728 2 152422076 152422076 C G exonic NEB NA nonsynonymous SNV NEB:NM_004543:exon88:c.G13166C:p.R4389T,NEB:NM_001164507:exon116:c.G18305C:p.R6102T,NEB:NM_001164508:exon116:c.G18305C:p.R6102T,NEB:NM_001271208:exon116:c.G18305C:p.R6102T exonic ENSG00000183091 NA nonsynonymous SNV ENSG00000183091:ENST00000413693:exon16:c.G2495C:p.R832T,ENSG00000183091:ENST00000172853:exon88:c.G13202C:p.R4401T,ENSG00000183091:ENST00000409198:exon89:c.G13202C:p.R4401T,ENSG00000183091:ENST00000603639:exon114:c.G18305C:p.R6102T,ENSG00000183091:ENST00000604864:exon114:c.G18305C:p.R6102T,ENSG00000183091:ENST00000397345:exon116:c.G18305C:p.R6102T,ENSG00000183091:ENST00000427231:exon116:c.G18305C:p.R6102T Score=648;Name=lod=571 NA 2q23.3 NA NA NA NA rs2288210 0.7 0.7 0.694 0.653155 0.6839 0.7758 0.6988 0.6082 0.5235 0.67 0.8 0.68 0.66 0.6707 0.8 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.095 N 3.89 T -0.998 T 0.000 T 0.774 0.79 8.163 5.28 0.939 5.717 13.998 0.789963 NA 1 0.663333 0.619565 NA 0.63 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081115.3;CLNDSDB=.;CLNDSDBID=. 9.3154004 729 3 172428782 172428782 T C exonic NCEH1 NA nonsynonymous SNV NCEH1:NM_001146276:exon1:c.A89G:p.Q30R,NCEH1:NM_020792:exon1:c.A89G:p.Q30R exonic ENSG00000144959 NA nonsynonymous SNV ENSG00000144959:ENST00000273512:exon1:c.A89G:p.Q30R,ENSG00000144959:ENST00000421723:exon1:c.A89G:p.Q30R,ENSG00000144959:ENST00000538775:exon1:c.A89G:p.Q30R NA NA 3q26.31 NA Name=Pol2,Pol2(phosphoS2),HA-E2F1,Ini1,TCF12,CTCF,TAF1,RFX5_(N-494),EBF1_(C-8),GABP,Pol2-4H8,STAT1,HEY1,ETS1,Sin3Ak-20,Mxi1_(bHLH),PAX5-C20,Pol2(b),ELK4,PAX5-N19,AP-2gamma,TBP,AP-2alpha,NF-YB,ZBTB7A_(SC-34508),ZNF263,GTF2F1_(RAP-74) Name=148 NA rs2276805 0.6 0.6 0.535 0.542332 0.6938 0.7183 0.745 0.1762 0.5562 0.7 0.74 0.74 0.19 0.6523 0.74 1 T 0.0 B 0.0 B 0.882 N 1.000 P 0 N 3.72 T -0.970 T 0.000 T 0.06 -0.424 2.022 -4.49 -1.141 0.035 2.141 -0.424437 NA 0.85 0.673296 0.27281 NA 0.558 NA 9.3139374 729 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 729 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 729 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$TAXCREB_01 NA NA NA rs3750534 0.37 0.37 0.398 0.408546 0.3181 0.4246 0.2061 0.4486 0.5746 0.33 0.43 0.23 0.48 0.3648 0.49 0.57 T . . . . 0.192 N 1.000 P . . 2.35 T -0.938 T 0.000 T 0.016 -1.472 0.018 3.16 0.318 0.059 4.768 -1.471647 NA NA 0.337653 0.427337 NA 0.42 NA 9.3127804 729 5 140590766 140590766 A G exonic PCDHB12 NA nonsynonymous SNV PCDHB12:NM_018932:exon1:c.A2287G:p.K763E exonic ENSG00000120328 NA nonsynonymous SNV ENSG00000120328:ENST00000239450:exon1:c.A2287G:p.K763E,ENSG00000120328:ENST00000541609:exon2:c.A1276G:p.K426E Score=325;Name=lod=28 NA 5q31.3 NA NA NA NA rs2910006 0.38 0.38 0.392 0.389177 0.3211 0.1339 0.3386 0.7511 0.2689 0.33 0.14 0.34 0.76 0.3465 0.76 1 T 0.0 B 0.0 B . . 0.999 P -4.025 N 2.72 T -0.952 T 0.000 T 0.041 -0.125 3.39 3.13 0.422 6.496 9.497 -0.124597 NA 1 0.353721 0.701997 ID=COSM1180600;OCCURENCE=1(upper_aerodigestive_tract) 0.37 NA 9.3120124 729 5 169031150 169031150 T C exonic SPDL1 NA nonsynonymous SNV SPDL1:NM_017785:exon12:c.T1757C:p.L586S exonic ENSG00000040275 NA nonsynonymous SNV ENSG00000040275:ENST00000265295:exon12:c.T1757C:p.L586S Score=325;Name=lod=28 NA 5q35.1 Score=843;Name=V$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 729 18 20573556 20573556 G A exonic RBBP8 NA nonsynonymous SNV RBBP8:NM_002894:exon11:c.G1766A:p.R589H,RBBP8:NM_203291:exon11:c.G1766A:p.R589H,RBBP8:NM_203292:exon11:c.G1766A:p.R589H exonic ENSG00000101773 NA nonsynonymous SNV ENSG00000101773:ENST00000583057:exon1:c.G110A:p.R37H,ENSG00000101773:ENST00000327155:exon11:c.G1766A:p.R589H,ENSG00000101773:ENST00000360790:exon11:c.G1766A:p.R589H,ENSG00000101773:ENST00000399722:exon11:c.G1766A:p.R589H,ENSG00000101773:ENST00000399725:exon11:c.G1766A:p.R589H NA NA 18q11.2 NA NA NA NA rs111445733 0.0037 0.0037 0.003 0.00259585 0.005 NA 0.0043 0.0023 0.002 0.01 NA 0.01 0.002 0.0071 0.012 0.14 T 0.003 B 0.001 B 0.597 N 0.995 N 1.39 L 1.53 T -0.986 T 0.041 T 0.038 1.294 10.23 -3.95 -0.606 0.125 6.917 1.293599 1.293599 0.12 0.011977 0.001816 NA 0.036 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118133.1;CLNDSDB=.;CLNDSDBID=. 9.3092564 729 6 97063522 97063522 C G exonic FHL5 NA nonsynonymous SNV FHL5:NM_001170807:exon6:c.C729G:p.S243R,FHL5:NM_020482:exon7:c.C729G:p.S243R exonic ENSG00000112214 NA nonsynonymous SNV ENSG00000112214:ENST00000541107:exon6:c.C729G:p.S243R,ENSG00000112214:ENST00000326771:exon7:c.C729G:p.S243R Score=582;Name=lod=308 NA 6q16.1 NA NA NA NA rs9373985 0.38 0.38 0.415 0.381989 0.3479 0.3502 0.2997 0.497 0.3528 0.34 0.35 0.34 0.53 0.343 0.53 1 T 0.0 B 0.001 B 0.020 N 0.553 P -1.8 N -2.2 D -1.036 T 0.078 T 0.121 -0.376 2.233 3.9 0.750 0.065 8.538 -0.375731 NA 1 0.333488 0.48502 NA 0.399 NA 9.3089454 729 1 26691174 26691174 C A exonic ZNF683 NA nonsynonymous SNV ZNF683:NM_001114759:exon4:c.G863T:p.R288L,ZNF683:NM_173574:exon4:c.G863T:p.R288L exonic ENSG00000176083 NA nonsynonymous SNV ENSG00000176083:ENST00000349618:exon4:c.G863T:p.R288L,ENSG00000176083:ENST00000374204:exon4:c.G863T:p.R288L,ENSG00000176083:ENST00000403843:exon4:c.G863T:p.R288L,ENSG00000176083:ENST00000436292:exon4:c.G863T:p.R288L NA NA 1p36.11 NA NA NA NA rs11247933 0.28 0.28 0.266 0.263379 0.341 0.2778 0.4193 0.1233 0.2474 0.35 0.26 0.4 0.13 0.3251 0.4 0.69 T 0.006 B 0.017 B 0.061 N 1.000 P 0.55 N 3.01 T -0.933 T 0.000 T 0.086 0.673 7.602 -7.04 -2.439 -2.192 3.865 0.672902 NA 0.1 0.359186 0.163414 NA 0.254 NA 9.3080474 729 3 9871030 9871030 T G exonic ARPC4-TTLL3,TTLL3 NA nonsynonymous SNV TTLL3:NM_001025930:exon10:c.T1934G:p.M645R,ARPC4-TTLL3:NM_001198793:exon11:c.T1688G:p.M563R exonic ENSG00000214021,ENSG00000250151 NA nonsynonymous SNV ENSG00000214021:ENST00000383827:exon4:c.T869G:p.M290R,ENSG00000214021:ENST00000430793:exon4:c.T869G:p.M290R,ENSG00000214021:ENST00000438141:exon4:c.T869G:p.M290R,ENSG00000214021:ENST00000455274:exon4:c.T869G:p.M290R,ENSG00000214021:ENST00000443148:exon7:c.T1319G:p.M440R,ENSG00000214021:ENST00000427853:exon8:c.T869G:p.M290R,ENSG00000214021:ENST00000397241:exon10:c.T869G:p.M290R,ENSG00000214021:ENST00000426895:exon10:c.T1934G:p.M645R,ENSG00000214021:ENST00000547186:exon10:c.T1505G:p.M502R,ENSG00000250151:ENST00000397256:exon11:c.T1688G:p.M563R NA NA 3p25.3 NA Name=ZNF263 NA NA rs2290305 0.52 0.52 0.524 0.481829 0.7296 0.2173 0.4553 0.5575 0.4162 0.74 0.22 0.51 0.55 0.6004 0.74 1 T 0.0 B 0.0 B 0.037 N 1.000 P -1.43 N 3.69 T -0.994 T 0.000 T 0.353 -0.568 1.438 4.14 1.138 2.271 2.655 -0.568384 NA 1 0.695698 0.584884 ID=COSM447135;OCCURENCE=1(breast) 0.601 NA 9.3076354 729 1 27679797 27679797 A G exonic SYTL1 NA nonsynonymous SNV SYTL1:NM_001193308:exon14:c.A1367G:p.Q456R,SYTL1:NM_032872:exon14:c.A1331G:p.Q444R exonic ENSG00000142765 NA nonsynonymous SNV ENSG00000142765:ENST00000543823:exon13:c.A1367G:p.Q456R,ENSG00000142765:ENST00000318074:exon14:c.A1331G:p.Q444R Score=533;Name=lod=196 NA 1p36.11 Score=754;Name=V$MYOGNF1_01 Name=Pol2 NA NA rs3813795 0.46 0.46 NA 0.482228 0.6819 0.25 0.4294 0.3495 0.7331 0.68 0.26 0.45 0.37 0.6508 0.7 1 T 0.0 B 0.001 B 0.003 N 0.000 P -1.355 N 3.28 T -0.999 T 0.000 T 0.085 0.113 4.608 2.68 0.327 0.946 4.745 0.112983 NA 0.82 0.695349 0.411938 NA 0.42 NA 9.3052844 729 17 73827205 73827205 T C exonic UNC13D NA nonsynonymous SNV UNC13D:NM_199242:exon27:c.A2599G:p.K867E exonic ENSG00000092929 NA nonsynonymous SNV ENSG00000092929:ENST00000207549:exon27:c.A2599G:p.K867E,ENSG00000092929:ENST00000412096:exon27:c.A2599G:p.K867E Score=325;Name=lod=28 NA 17q25.1 NA NA NA NA rs1135688 0.5 0.5 0.535 0.499401 0.336 0.4266 0.2968 0.9032 0.3405 0.32 0.49 0.33 0.9 0.3666 0.9 1 T 0.0 B 0.001 B 0.025 N 1.000 P -1.875 N -0.64 T -0.948 T 0.000 T 0.043 -1.352 0.028 3.7 0.583 1.088 9.48 -1.352212 NA 1 0.325657 0.819791 NA 0.435 NA 9.3050764 730 2 237076096 237076096 C G exonic GBX2 NA synonymous SNV GBX2:NM_001485:exon1:c.G519C:p.S173S exonic ENSG00000168505 NA synonymous SNV ENSG00000168505:ENST00000306318:exon1:c.G519C:p.S173S,ENSG00000168505:ENST00000551105:exon1:c.G519C:p.S173S Score=549;Name=lod=227 NA 2q37.2 NA Name=CTCF,Pol2,Pol2-4H8,Egr-1 Name=108 NA rs112186240 0.06 0.06 0.043 0.0617013 0.1233 0.002 0.0461 0.0272 0.1176 0.13 NA 0.06 0.03 0.1341 0.13 . . . . . . . . 0.000 P . . . . -1.025 T 0.001 T . 1.893 12.29 -1.97 -0.352 -0.229 8.393 1.892712 1.892712 NA 0.104461 0.039853 NA NA NA 9.3048056 730 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 730 19 17004049 17004049 T C exonic CPAMD8 NA nonsynonymous SNV CPAMD8:NM_015692:exon42:c.A5669G:p.Q1890R exonic ENSG00000160111 NA nonsynonymous SNV ENSG00000160111:ENST00000443236:exon42:c.A5669G:p.Q1890R NA NA 19p13.11 NA Name=Pol2-4H8 NA NA rs1054533 0.23 0.23 0.193 0.211462 0.333 0.126 0.2968 0.0961 0.2699 0.32 0.14 0.31 0.11 0.3688 0.33 0.85 T 0.0 B 0.0 B . . 1.000 P 0 N . . -0.941 T 0.000 T 0.04 -0.48 1.789 -1.74 -2.277 -2.459 6.372 -0.479931 NA 0 0.32985 0.132884 NA 0.181 NA 9.3016834 730 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 730 4 48115264 48115264 C T exonic TXK NA nonsynonymous SNV TXK:NM_003328:exon3:c.G134A:p.R45H exonic ENSG00000074966 NA nonsynonymous SNV ENSG00000074966:ENST00000506073:exon2:c.G134A:p.R45H,ENSG00000074966:ENST00000264316:exon3:c.G134A:p.R45H NA NA 4p12 NA NA NA NA rs7658300 0.21 0.21 0.192 0.172724 0.3658 0.0685 0.3429 0.0257 0.1595 0.37 0.06 0.33 0.04 0.3004 0.37 0.2 T 0.0 B 0.0 B 0.527 N 1.000 P 0 N 0.23 T -1.077 T 0.000 T 0.272 1.01 9.127 -7.49 -2.472 -3.757 9.289 1.010474 NA 0.25 0.365814 0.080345 NA 0.167 NA 9.3013194 730 17 42254281 42254281 A G exonic ASB16 NA nonsynonymous SNV ASB16:NM_080863:exon3:c.A745G:p.T249A exonic ENSG00000161664 NA nonsynonymous SNV ENSG00000161664:ENST00000293414:exon3:c.A745G:p.T249A,ENSG00000161664:ENST00000589618:exon3:c.A745G:p.T249A Score=378;Name=lod=46 NA 17q21.31 NA NA NA NA rs7212573 0.52 0.52 0.511 0.517971 0.2932 0.752 0.4424 0.702 0.3129 0.31 0.73 0.39 0.71 0.4497 0.73 0.94 T 0.0 B 0.0 B 0.000 N 1.000 P -0.265 N 0.69 T -0.951 T 0.000 T 0.096 0.354 5.919 3.08 0.777 1.059 9.565 0.353578 NA NA 0.291169 0.593061 ID=COSM436690,COSM436691;OCCURENCE=1(breast) 0.558 NA 9.2992644 730 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 730 19 22271717 22271717 A C exonic ZNF257 NA nonsynonymous SNV ZNF257:NM_033468:exon4:c.A1165C:p.K389Q exonic ENSG00000197134 NA nonsynonymous SNV ENSG00000197134:ENST00000594947:exon4:c.A1165C:p.K389Q NA NA 19p12 NA Name=ZNF274 NA NA rs11666876 0.01 0.01 0.003 0.00439297 0.0109 NA 0.0058 0.0008 0.0061 0.01 NA 0.01 NA 0.0103 0.015 0.79 T 0.009 B 0.023 B . . 1.000 N 0.405 N . . -1.007 T 0.025 T 0.026 -2.072 0.006 -1.85 -0.738 -1.749 6.280 -2.071713 NA 0.48 0.015319 0.002389 NA 0.007 NA 9.2968144 730 1 23418803 23418803 G C exonic LUZP1 NA nonsynonymous SNV LUZP1:NM_001142546:exon3:c.C1952G:p.S651C,LUZP1:NM_033631:exon4:c.C1952G:p.S651C exonic ENSG00000169641 NA nonsynonymous SNV ENSG00000169641:ENST00000314174:exon2:c.C1952G:p.S651C,ENSG00000169641:ENST00000374623:exon2:c.C1952G:p.S651C,ENSG00000169641:ENST00000418342:exon3:c.C1952G:p.S651C,ENSG00000169641:ENST00000302291:exon4:c.C1952G:p.S651C NA NA 1p36.12 NA NA Name=6 NA rs35645814 0.01 0.01 0.006 0.00339457 0.0139 NA 0.0029 0.0008 NA 0.01 NA 0.0028 0.002 0.0092 0.022 0.11 T 0.003 B 0.003 B 0.287 N 1.000 N 1.7 L 2.52 T -1.015 T 0.025 T 0.201 2.141 13.12 1.62 0.049 1.218 3.666 2.14101 2.14101 0.01 0.013605 0.003404 NA 0.014 NA 9.2966284 730 16 84209738 84209738 T C exonic DNAAF1 NA nonsynonymous SNV DNAAF1:NM_178452:exon11:c.T1898C:p.L633S exonic ENSG00000154099 NA nonsynonymous SNV ENSG00000154099:ENST00000569735:exon1:c.T200C:p.L67S,ENSG00000154099:ENST00000378553:exon11:c.T1898C:p.L633S NA NA 16q24.1 NA NA NA NA rs2288020 0.3 0.3 0.287 0.267372 0.3439 0.376 0.4049 0.0613 0.2577 0.35 0.42 0.34 0.07 0.3381 0.42 0.43 T 0.356 B 0.104 B 0.143 N 1.000 P 0.69 N 1.47 T -0.978 T 0.000 T 0.067 -0.403 2.115 -3.4 -0.980 -3.092 6.011 -0.402769 NA 0.23 0.355116 0.111136 ID=COSM148130;OCCURENCE=1(breast),1(stomach) 0.217 NA 9.2962174 731 6 46658905 46658905 C G exonic TDRD6 NA nonsynonymous SNV TDRD6:NM_001010870:exon1:c.C3040G:p.Q1014E,TDRD6:NM_001168359:exon1:c.C3040G:p.Q1014E exonic ENSG00000180113 NA nonsynonymous SNV ENSG00000180113:ENST00000316081:exon1:c.C3040G:p.Q1014E,ENSG00000180113:ENST00000544460:exon1:c.C3040G:p.Q1014E Score=243;Name=lod=13 NA 6p12.3 NA NA NA NA rs9381472 0.36 0.36 0.335 0.417732 0.329 0.3492 0.4323 0.3631 0.6431 0.34 0.35 0.41 0.37 0.3777 0.45 0.73 T 0.005 B 0.022 B 0.239 N 0.992 P 0.87 L 3.1 T -0.936 T 0.006 T 0.067 0.909 8.698 3.52 0.576 1.590 10.058 0.908949 NA 0.11 0.332093 0.382206 NA 0.42 NA 9.2945404 731 15 77450964 77450964 C T exonic PEAK1 NA nonsynonymous SNV PEAK1:NM_024776:exon6:c.G3212A:p.R1071K exonic ENSG00000173517 NA nonsynonymous SNV ENSG00000173517:ENST00000312493:exon3:c.G3212A:p.R1071K,ENSG00000173517:ENST00000560626:exon5:c.G3212A:p.R1071K NA NA 15q24.3 NA NA NA NA rs12909704 0.23 0.23 0.201 0.198083 0.3787 0.1121 0.2622 0.0794 0.2157 0.37 0.13 0.28 0.1 0.2973 0.37 0.2 T 0.002 B 0.002 B 0.985 N 1.000 P 0 N -0.26 T -1.012 T 0.000 T 0.057 1.356 10.46 2.54 0.978 1.412 8.061 1.356279 1.356279 0.37 0.363032 0.10652 NA 0.261 NA 9.2943014 731 11 56143977 56143977 A G exonic OR8U1 NA nonsynonymous SNV OR8U1:NM_001005204:exon1:c.A878G:p.Q293R exonic ENSG00000172199 NA nonsynonymous SNV ENSG00000172199:ENST00000302270:exon1:c.A878G:p.Q293R Score=355;Name=lod=37 NA 11q12.1 NA NA NA NA rs12272403 0.35 0.35 0.343 0.321086 0.3579 0.1379 0.2363 0.5484 0.2249 0.38 0.22 0.25 0.52 0.3222 0.52 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.68 N 8.03 T -1.003 T 0.000 T 0.175 -1.832 0.009 4.78 0.792 3.683 9.794 -1.832186 NA 1 0.358974 0.509206 NA 0.268 NA 9.2942594 731 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 731 3 145938619 145938619 T C exonic PLSCR4 NA nonsynonymous SNV PLSCR4:NM_001177304:exon2:c.A56G:p.N19S,PLSCR4:NM_001128305:exon3:c.A101G:p.N34S,PLSCR4:NM_001128306:exon3:c.A101G:p.N34S,PLSCR4:NM_020353:exon3:c.A101G:p.N34S,PLSCR4:NM_001128304:exon5:c.A101G:p.N34S exonic ENSG00000114698 NA nonsynonymous SNV ENSG00000114698:ENST00000433593:exon2:c.A56G:p.N19S,ENSG00000114698:ENST00000498625:exon2:c.A101G:p.N34S,ENSG00000114698:ENST00000354952:exon3:c.A101G:p.N34S,ENSG00000114698:ENST00000383083:exon3:c.A101G:p.N34S,ENSG00000114698:ENST00000446574:exon3:c.A101G:p.N34S,ENSG00000114698:ENST00000460885:exon3:c.A101G:p.N34S,ENSG00000114698:ENST00000481701:exon3:c.A101G:p.N34S,ENSG00000114698:ENST00000460350:exon4:c.A101G:p.N34S,ENSG00000114698:ENST00000476202:exon4:c.A101G:p.N34S,ENSG00000114698:ENST00000493382:exon5:c.A101G:p.N34S NA NA 3q24 NA NA NA NA rs3762685 0.31 0.31 0.302 0.308906 0.341 0.1915 0.415 0.3457 0.272 0.35 0.2 0.37 0.33 0.3481 0.37 0.75 T 0.001 B 0.002 B 0.998 N 1.000 P 0.6 N 1.04 T -0.956 T 0.000 T 0.038 0.166 4.895 -8.49 -1.326 -2.202 0.804 0.16635 NA 0.24 0.351279 0.350431 NA 0.37 NA 9.2929544 731 1 201182609 201182609 G A exonic IGFN1 NA nonsynonymous SNV IGFN1:NM_001164586:exon12:c.G8588A:p.R2863Q exonic ENSG00000163395 NA nonsynonymous SNV ENSG00000163395:ENST00000295591:exon12:c.G68A:p.R23Q,ENSG00000163395:ENST00000335211:exon12:c.G8588A:p.R2863Q NA NA 1q32.1 NA NA NA NA rs61742375 0.01 0.01 0.007 0.00858626 0.0129 0.002 0.0072 NA 0.0235 0.02 0.0017 0.0028 NA 0.0119 0.02 0.28 T 0.229 B 0.031 B 0.973 N 1.000 N 0.69 N 0.72 T -1.078 T 0.044 T 0.066 1.828 12.07 -2.54 -0.931 -1.820 8.178 1.82819 1.82819 0 0.015581 0.002724 NA NA NA 9.2929524 731 19 40886742 40886742 C T exonic HIPK4 NA nonsynonymous SNV HIPK4:NM_144685:exon3:c.G1156A:p.A386T exonic ENSG00000160396 NA nonsynonymous SNV ENSG00000160396:ENST00000291823:exon3:c.G1156A:p.A386T NA NA 19q13.2 NA NA NA NA rs56365273 0.03 0.03 0.01 0.023762 0.0099 NA 0.1427 0.0038 0.0051 0.01 NA 0.15 0.01 0.0263 0.15 0.26 T 0.002 B 0.001 B 0.832 N 1.000 P 0.695 N -0.22 T -1.104 T 0.001 T 0.05 0.469 6.546 -4.33 -0.430 -1.595 4.749 0.469039 NA 0 0.004186 0.003858 NA 0.022 NA 9.2929474 731 12 69260779 69260779 C T exonic CPM NA synonymous SNV CPM:NM_001005502:exon7:c.G837A:p.T279T,CPM:NM_001874:exon7:c.G837A:p.T279T,CPM:NM_198320:exon7:c.G837A:p.T279T exonic ENSG00000135678 NA synonymous SNV ENSG00000135678:ENST00000338356:exon6:c.G837A:p.T279T,ENSG00000135678:ENST00000546373:exon7:c.G837A:p.T279T,ENSG00000135678:ENST00000551568:exon7:c.G837A:p.T279T NA NA 12q15 NA NA Name=29 NA rs33925480 0.07 0.07 0.056 0.0666933 0.1342 0.0159 0.0807 0.0129 0.1125 0.13 0.01 0.1 0.01 0.1033 0.14 . . . . . . . . 0.000 P . . . . -1.086 T 0.001 T . 0.554 6.995 -11.1 -2.582 -3.148 9.274 0.553768 NA NA 0.136512 0.03291 NA 0.152 NA 9.2926546 731 X 106221389 106221389 T C exonic MORC4 NA nonsynonymous SNV MORC4:NM_001085354:exon8:c.A977G:p.N326S,MORC4:NM_024657:exon8:c.A977G:p.N326S exonic ENSG00000133131 NA nonsynonymous SNV ENSG00000133131:ENST00000535534:exon7:c.A221G:p.N74S,ENSG00000133131:ENST00000255495:exon8:c.A977G:p.N326S,ENSG00000133131:ENST00000355610:exon8:c.A977G:p.N326S Score=617;Name=lod=428 NA Xq22.3 NA NA NA NA rs41304048 0.01 0.01 0.0194 NA NA NA NA NA NA 0.03 NA 0.0036 NA 0.0159 0.03 0.14 T 0.013 B 0.006 B 0.006 N 0.999 N 1.07 L 2.65 T -1.052 T 0.025 T 0.033 1.605 11.32 1.23 0.006 1.684 7.585 1.605313 1.605313 0.27 0.024822 0.004172 NA NA NA 9.2926114 731 6 49439805 49439805 G A exonic CENPQ NA nonsynonymous SNV CENPQ:NM_018132:exon4:c.G187A:p.G63R exonic ENSG00000031691 NA nonsynonymous SNV ENSG00000031691:ENST00000335783:exon4:c.G187A:p.G63R NA NA 6p12.3 NA NA NA NA rs4267943 0.32 0.32 0.309 0.334265 0.332 0.2103 0.2305 0.4191 0.4233 0.37 0.2 0.25 0.42 0.3417 0.42 0 D 0.003 B 0.0 B 0.357 N 1.000 P 0 N 1.58 T -0.985 T 0.012 T 0.028 0.079 4.427 -6.48 -1.779 -0.832 9.513 0.079036 NA 0 0.367209 0.391285 NA 0.304 NA 9.2924244 731 6 28254862 28254862 G C exonic PGBD1 NA nonsynonymous SNV PGBD1:NM_001184743:exon4:c.G559C:p.V187L,PGBD1:NM_032507:exon4:c.G559C:p.V187L exonic ENSG00000137338 NA nonsynonymous SNV ENSG00000137338:ENST00000259883:exon4:c.G559C:p.V187L,ENSG00000137338:ENST00000405948:exon4:c.G559C:p.V187L NA NA 6p22.1 NA NA NA NA rs41269293 0.01 0.01 0.002 0.00519169 0.0189 NA 0.0086 NA 0.001 0.02 NA 0.01 NA 0.0108 0.02 0.03 D 0.003 B 0.007 B . . 1.000 N 0.55 N 4.91 T -0.923 T 0.001 T 0.011 0.014 4.089 1.55 0.178 1.296 6.977 0.014475 NA 0.09 0.011744 0.002043 NA 0.007 NA 9.2918894 731 6 29640951 29640951 T C exonic ZFP57 NA nonsynonymous SNV ZFP57:NM_001109809:exon4:c.A937G:p.R313G exonic ENSG00000204644 NA nonsynonymous SNV ENSG00000204644:ENST00000488757:exon4:c.A937G:p.R313G,ENSG00000204644:ENST00000376881:exon5:c.A877G:p.R293G,ENSG00000204644:ENST00000376883:exon6:c.A877G:p.R293G NA NA 6p22.1 NA NA NA NA rs61730327 0.01 0.01 0.007 0.00399361 0.0159 NA NA NA 0.0041 0.02 NA NA NA 0.012 0.02 0.02 D 0.0 B 0.001 B 0.202 N 1.000 N . . 3.64 T -0.909 T 0.005 T 0.061 0.135 4.724 -1.97 -0.493 -1.782 3.425 0.134638 NA 0.39 0.014308 0.003719 NA NA NA 9.2911254 731 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 731 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 731 11 76954812 76954812 T C exonic GDPD4 NA nonsynonymous SNV GDPD4:NM_182833:exon12:c.A1168G:p.I390V exonic ENSG00000178795 NA nonsynonymous SNV ENSG00000178795:ENST00000315938:exon12:c.A1168G:p.I390V,ENSG00000178795:ENST00000376217:exon12:c.A1168G:p.I390V NA NA 11q13.5 NA NA NA NA rs11237145 0.23 0.23 0.219 0.254393 0.3738 0.256 0.1916 0.0514 0.4489 0.36 0.23 0.21 0.05 0.311 0.36 0.92 T 0.001 B 0.001 B 0.353 N 1.000 P -0.065 N 2.84 T -0.989 T 0.000 T 0.041 -1.522 0.016 -8.54 -2.006 -3.063 3.147 -1.522396 NA 0.55 0.359157 0.104091 NA 0.21 NA 9.2893764 731 8 124440174 124440174 A G exonic WDYHV1 NA nonsynonymous SNV WDYHV1:NM_018024:exon2:c.A94G:p.I32V exonic ENSG00000156795 NA nonsynonymous SNV ENSG00000156795:ENST00000287387:exon2:c.A94G:p.I32V,ENSG00000156795:ENST00000522194:exon2:c.A94G:p.I32V,ENSG00000156795:ENST00000523356:exon2:c.A94G:p.I32V Score=549;Name=lod=227 NA 8q24.13 NA NA NA NA rs6999234 0.39 0.39 0.353 0.410343 0.3121 0.5863 0.3919 0.3427 0.4346 0.31 0.57 0.38 0.28 0.3803 0.57 1 T 0.007 B 0.012 B 0.000 N 0.000 P -0.435 N 2.71 T -0.936 T 0.000 T 0.201 -0.435 1.977 4.06 0.827 3.320 6.574 -0.435011 NA 1 0.352093 0.362687 ID=COSM1132853;OCCURENCE=1(prostate) 0.304 NA 9.2888404 731 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 732 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 732 20 5547384 5547384 C T exonic GPCPD1 NA nonsynonymous SNV GPCPD1:NM_019593:exon14:c.G1262A:p.R421Q exonic ENSG00000125772 NA nonsynonymous SNV ENSG00000125772:ENST00000379019:exon14:c.G1262A:p.R421Q Score=501;Name=lod=145 NA 20p12.3 NA NA NA NA rs73078112 0.01 0.01 0.006 0.00499201 0.0149 0.001 0.0058 0.0023 0.002 0.02 0.0017 0.0028 0.002 0.0138 0.022 0.65 T 0.0 B 0.001 B 0.132 N 0.997 N 0 N 2.84 T -0.933 T 0.005 T 0.016 0.947 8.863 1.05 0.679 1.072 4.643 0.947311 NA 0.53 0.021744 0.006582 NA 0.007 NA 9.2828894 732 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=Pol2,STAT3 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 732 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 732 16 74695079 74695079 G T exonic RFWD3 NA nonsynonymous SNV RFWD3:NM_018124:exon2:c.C269A:p.T90N exonic ENSG00000168411 NA nonsynonymous SNV ENSG00000168411:ENST00000361070:exon2:c.C269A:p.T90N,ENSG00000168411:ENST00000571750:exon3:c.C269A:p.T90N,ENSG00000168411:ENST00000572990:exon3:c.C269A:p.T90N,ENSG00000168411:ENST00000575113:exon3:c.C269A:p.T90N,ENSG00000168411:ENST00000576652:exon4:c.C269A:p.T90N NA NA 16q23.1 NA Name=Pol2-4H8 NA NA rs8058922 0.76 0.76 0.767 0.788139 0.666 0.8343 0.7363 0.8691 0.7935 0.66 0.83 0.72 0.87 0.7139 0.87 1 T 0.0 B 0.0 B 0.220 N 1.000 P -0.46 N 2.46 T -0.969 T 0.000 T 0.054 -1.097 0.145 -9.46 -2.301 -2.533 9.958 -1.097392 NA 0.83 0.671279 0.829163 NA 0.754 NA 9.2821544 732 1 152283568 152283568 T C exonic FLG NA nonsynonymous SNV FLG:NM_002016:exon3:c.A3794G:p.H1265R exonic ENSG00000143631 NA nonsynonymous SNV ENSG00000143631:ENST00000368799:exon3:c.A3794G:p.H1265R NA NA 1q21.3 NA NA NA NA rs11581512 0.01 0.01 0.003 0.00539137 0.0169 NA 0.0101 0.0023 NA 0.02 NA 0.01 0.0041 0.015 0.02 1 T 0.0 B 0.001 B . . 1.000 N -1.65 N 4.4 T -0.923 T 0.000 T 0.008 0.018 4.105 -6.78 -1.435 -0.607 6.558 0.017541 NA 0.46 0.019767 0.003177 NA NA NA 9.2816664 732 13 52440130 52440130 A G exonic CCDC70 NA nonsynonymous SNV CCDC70:NM_031290:exon2:c.A616G:p.I206V exonic ENSG00000123171 NA nonsynonymous SNV ENSG00000123171:ENST00000242819:exon2:c.A616G:p.I206V NA NA 13q14.3 NA Name=CTCF,CTCF_(SC-5916),Rad21 Name=2 NA rs1054515 0.38 0.38 0.337 0.355831 0.3439 0.4127 0.4582 0.2837 0.3344 0.34 0.47 0.41 0.3 0.3694 0.47 0.89 T 0.0 B 0.001 B 0.097 N 1.000 P 0.29 N 2.86 T -0.939 T 0.000 T 0.017 -0.726 0.89 -10.1 -2.204 -0.833 5.529 -0.725974 NA 0.61 0.339302 0.291875 NA 0.319 NA 9.2807314 732 22 35463162 35463162 A G exonic ISX NA nonsynonymous SNV ISX:NM_001008494:exon1:c.A82G:p.S28G exonic ENSG00000175329 NA nonsynonymous SNV ENSG00000175329:ENST00000308700:exon1:c.A82G:p.S28G,ENSG00000175329:ENST00000404699:exon2:c.A82G:p.S28G Score=445;Name=lod=86 NA 22q12.3 NA NA NA NA rs361863 0.76 0.76 0.75 0.79992 0.671 0.8552 0.6441 0.8759 0.8834 0.69 0.85 0.68 0.84 0.7227 0.86 0.44 T 0.0 B 0.0 B 0.042 N 1.000 P -1.04 N -2.65 D -0.932 T 0.000 T 0.004 0.575 7.104 5.13 1.177 0.474 9.854 0.574716 NA 1 0.658953 0.856559 NA 0.638 NA 9.2806804 732 15 41339697 41339697 T C exonic INO80 NA nonsynonymous SNV INO80:NM_017553:exon23:c.A2644G:p.I882V exonic ENSG00000128908 NA nonsynonymous SNV ENSG00000128908:ENST00000361937:exon23:c.A2644G:p.I882V,ENSG00000128908:ENST00000401393:exon23:c.A2644G:p.I882V,ENSG00000128908:ENST00000558357:exon23:c.A2644G:p.I882V Score=657;Name=lod=621 NA 15q15.1 NA NA NA NA rs34153025 0.01 0.01 0.009 0.00658946 0.0199 NA 0.0159 0.0008 0.001 0.02 NA 0.02 NA 0.0136 0.02 0.43 T 0.0 B 0.0 B 0.010 N 0.982 N -0.46 N -2.67 D -0.812 T 0.204 T 0.023 -0.215 2.959 1.97 0.297 0.709 3.878 -0.215115 NA 1 0.019651 0.003404 NA NA NA 9.2801824 732 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=Obesity,Body mass index,Weight 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 732 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=ZNF263,YY1_(C-20),ELF1_(SC-631),E2F6,E2F6_(H-50),CTCF,Pol2,HA-E2F1 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 732 4 128814964 128814964 G T exonic PLK4 NA nonsynonymous SNV PLK4:NM_001190799:exon12:c.G2394T:p.E798D,PLK4:NM_001190801:exon13:c.G2367T:p.E789D,PLK4:NM_014264:exon13:c.G2490T:p.E830D exonic ENSG00000142731 NA nonsynonymous SNV ENSG00000142731:ENST00000508113:exon4:c.G228T:p.E76D,ENSG00000142731:ENST00000513090:exon12:c.G2394T:p.E798D,ENSG00000142731:ENST00000270861:exon13:c.G2490T:p.E830D,ENSG00000142731:ENST00000507249:exon13:c.G2307T:p.E769D,ENSG00000142731:ENST00000514379:exon13:c.G2367T:p.E789D,ENSG00000142731:ENST00000515069:exon13:c.G2256T:p.E752D NA NA 4q28.2 NA NA Name=3 NA rs17012739 0.71 0.71 0.692 0.742412 0.6849 0.6736 0.7738 0.7995 0.773 0.69 0.64 0.76 0.79 0.7032 0.8 0.61 T 0.0 B 0.001 B 0.857 N 1.000 P 0.11 N 0.83 T -1.091 T 0.000 T 0.082 -1.604 0.014 -8.44 -6.023 -2.335 4.425 -1.604385 NA 0.58 0.67 0.796187 NA 0.667 NA 9.2752334 732 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=GATA2_(CG2-96),TAL1_(SC-12984) 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 733 12 124856830 124856830 C T exonic NCOR2 NA nonsynonymous SNV NCOR2:NM_001077261:exon21:c.G2491A:p.E831K,NCOR2:NM_001206654:exon21:c.G2491A:p.E831K,NCOR2:NM_006312:exon22:c.G2545A:p.E849K exonic ENSG00000196498 NA nonsynonymous SNV ENSG00000196498:ENST00000397355:exon20:c.G2494A:p.E832K,ENSG00000196498:ENST00000404121:exon20:c.G1204A:p.E402K,ENSG00000196498:ENST00000404621:exon20:c.G2491A:p.E831K,ENSG00000196498:ENST00000405201:exon20:c.G2545A:p.E849K,ENSG00000196498:ENST00000429285:exon20:c.G2491A:p.E831K,ENSG00000196498:ENST00000356219:exon21:c.G2545A:p.E849K,ENSG00000196498:ENST00000458234:exon22:c.G2545A:p.E849K NA NA 12q24.31 NA Name=CTCF_(SC-5916) NA NA rs142292731 0.01 0.01 NA 0.00419329 0.0129 NA 0.0101 NA 0.001 0.01 NA 0.01 NA 0.0183 0.027 0.31 T 0.0 B 0.002 B 0.238 N 1.000 N 0.69 N 1.48 T -1.036 T 0.014 T 0.313 1.477 10.89 0.655 -0.171 2.329 4.056 1.477039 1.477039 0.31 0.027334 0.003788 NA NA NA 9.2747994 733 10 21414892 21414892 C G exonic C10orf113 NA nonsynonymous SNV C10orf113:NM_001010896:exon2:c.G328C:p.D110H exonic ENSG00000204683 NA nonsynonymous SNV ENSG00000204683:ENST00000377118:exon2:c.G298C:p.D100H,ENSG00000204683:ENST00000534331:exon2:c.G328C:p.D110H Score=251;Name=lod=14 NA 10p12.31 NA NA NA NA rs625223 0.49 0.49 0.517 0.542931 0.3181 0.7063 0.3847 0.6657 0.5521 0.31 0.68 0.35 0.64 0.4045 0.68 0 D 0.09 B 0.031 B . . 0.293 P 0 N 1.01 T -0.988 T 0.000 T 0.097 1.797 11.97 2.6 0.589 0.708 10.968 1.796893 1.796893 NA 0.336744 0.598275 NA 0.652 NA 9.2739894 733 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 733 3 167217964 167217964 A G exonic WDR49 NA nonsynonymous SNV WDR49:NM_178824:exon14:c.T1952C:p.L651P exonic ENSG00000174776 NA nonsynonymous SNV ENSG00000174776:ENST00000476376:exon12:c.T1427C:p.L476P,ENSG00000174776:ENST00000453925:exon13:c.T1847C:p.L616P,ENSG00000174776:ENST00000308378:exon14:c.T1952C:p.L651P NA NA 3q26.1 NA NA NA NA rs13060964 0.37 0.37 0.344 0.360823 0.3519 0.4812 0.3429 0.2632 0.3906 0.35 0.46 0.34 0.29 0.3591 0.46 0.11 T 0.0 B 0.0 B 0.059 N 1.000 P -1.935 N 1.97 T -0.923 T 0.000 T 0.386 -0.82 0.623 3.29 1.165 1.406 6.749 -0.820174 NA 0.04 0.348721 0.270313 NA 0.384 NA 9.2736124 733 11 67120530 67120530 C G exonic POLD4 NA nonsynonymous SNV POLD4:NM_001256870:exon2:c.G116C:p.R39P,POLD4:NM_021173:exon2:c.G116C:p.R39P exonic ENSG00000175482 NA nonsynonymous SNV ENSG00000175482:ENST00000312419:exon2:c.G116C:p.R39P,ENSG00000175482:ENST00000531239:exon2:c.G55C:p.A19P,ENSG00000175482:ENST00000539074:exon2:c.G116C:p.R39P NA NA 11q13.2 NA Name=Pol2-4H8,Pol2 Name=35 NA rs28364240 0.03 0.03 0.004 0.0365415 0.003 0.001 0.255 0.0015 NA 0.004 0.0017 0.19 0.0041 0.0547 0.19 0.28 T 0.0 B 0.0 B 0.473 N 1.000 P -0.345 N 1.48 T -1.002 T 0.000 T 0.09 0.252 5.363 -1.95 -0.185 -0.486 0.871 0.252299 NA 0.12 0.002564 0.00182 NA 0.029 NA 9.2730694 733 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 733 8 120803637 120803637 C G exonic TAF2 NA nonsynonymous SNV TAF2:NM_003184:exon11:c.G1340C:p.S447T exonic ENSG00000064313 NA nonsynonymous SNV ENSG00000064313:ENST00000378164:exon11:c.G1340C:p.S447T Score=609;Name=lod=398 NA 8q24.12 NA NA NA Score=61;Name=2364918_0_-_61 rs9297605 0.65 0.65 0.628 0.658347 0.6779 0.4524 0.7277 0.7663 0.6554 0.69 0.45 0.72 0.76 0.6851 0.77 0.41 T 0.0 B 0.0 B 0.000 N 1.000 P 0.55 N 3.55 T -1.030 T 0.000 T 0.193 0.968 8.949 2.97 0.188 4.770 5.372 0.967837 NA 0.45 0.698302 0.768951 ID=COSM150523;OCCURENCE=1(stomach) 0.79 NA 9.2720314 733 11 32996805 32996805 C T exonic QSER1 NA synonymous SNV QSER1:NM_001076786:exon12:c.C4983T:p.V1661V exonic ENSG00000060749 NA synonymous SNV ENSG00000060749:ENST00000399302:exon12:c.C4983T:p.V1661V,ENSG00000060749:ENST00000527788:exon13:c.C4266T:p.V1422V Score=654;Name=lod=608 NA 11p13 Score=788;Name=V$COMP1_01 NA NA NA rs11032076 0.07 0.07 0.058 0.0589058 0.1481 0.005 0.0994 0.0015 0.0716 0.15 0.01 0.12 0.002 0.1107 0.15 . . . . . . . . 0.000 P . . . . -1.023 T 0.001 T . 0.664 7.557 -2.55 -0.725 0.465 6.163 0.663876 NA NA 0.138355 0.027283 ID=COSM1353567;OCCURENCE=1(large_intestine) 0.051 NA 9.2695116 733 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 733 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=Pol2-4H8,IRF4_(M-17),NFKB,ELF1_(SC-631),USF1_(SC-8983),USF-1,Pol2,E2F6_(H-50),POU2F2,E2F6,Pol2(b),GTF2F1_(RAP-74),ZNF263,c-Myc,Oct-2,Max,Mxi1_(bHLH),MEF2C_(SC-13268),STAT3,Sin3Ak-20 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 733 5 6633779 6633779 C G exonic SRD5A1 NA synonymous SNV SRD5A1:NM_001047:exon1:c.C90G:p.R30R exonic ENSG00000145545 NA nonsynonymous SNV ENSG00000145545:ENST00000537411:exon1:c.C116G:p.A39G,ENSG00000145545:ENST00000538824:exon1:c.C116G:p.A39G NA NA 5p15.31 NA Name=Pol2,HA-E2F1,Ini1,E2F6,E2F6_(H-50),TAF1,Pol2-4H8,HEY1,c-Myc,Sin3Ak-20,Mxi1_(bHLH) Name=30 NA rs248793 0.55 0.55 0.476 0.565695 0.5537 0.3899 0.6816 0.6936 0.5041 0.55 0.37 0.67 0.67 0.6079 0.68 0 D 0.0 B 0.0 B . . 1.000 P . . 1.9 T -1.006 T 0.000 T . 1.537 11.09 0.815 -0.193 1.407 5.319 1.537057 1.537057 NA 0.570492 0.684896 NA 0.138 NA 9.267908 733 19 37005998 37005998 A G exonic ZNF260 NA nonsynonymous SNV ZNF260:NM_001166037:exon3:c.T143C:p.M48T,ZNF260:NM_001166038:exon3:c.T143C:p.M48T,ZNF260:NM_001012756:exon4:c.T143C:p.M48T,ZNF260:NM_001166036:exon4:c.T143C:p.M48T exonic ENSG00000254004 NA nonsynonymous SNV ENSG00000254004:ENST00000593142:exon2:c.T143C:p.M48T,ENSG00000254004:ENST00000523638:exon3:c.T143C:p.M48T,ENSG00000254004:ENST00000588993:exon3:c.T143C:p.M48T,ENSG00000254004:ENST00000592282:exon4:c.T143C:p.M48T NA NA 19q13.12 NA NA NA NA rs61743049 0.03 0.03 0.032 0.028155 0.0258 0.0595 0.0259 NA 0.0378 0.03 0.05 0.01 NA 0.0221 0.05 0.14 T 0.0 B 0.0 B . . 1.000 N -1.51 N 2.44 T -0.982 T 0.002 T 0.058 -0.876 0.49 2.22 0.813 2.168 7.733 -0.875594 NA NA 0.018256 0.003858 NA 0.014 NA 9.2671774 734 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 734 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 734 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 734 10 3200292 3200292 G A exonic PITRM1 NA nonsynonymous SNV PITRM1:NM_001242309:exon10:c.C1094T:p.A365V,PITRM1:NM_001242307:exon11:c.C1190T:p.A397V,PITRM1:NM_014889:exon11:c.C1190T:p.A397V exonic ENSG00000107959 NA nonsynonymous SNV ENSG00000107959:ENST00000451104:exon10:c.C1094T:p.A365V,ENSG00000107959:ENST00000224949:exon11:c.C1190T:p.A397V,ENSG00000107959:ENST00000380989:exon11:c.C1190T:p.A397V NA NA 10p15.2 NA NA NA NA rs3182535 0.65 0.65 0.652 0.625998 0.7097 0.6022 0.5677 0.5719 0.6789 0.72 0.62 0.64 0.57 0.6584 0.72 0.29 T 0.228 B 0.16 B 0.000 D 0.000 P . . 3.11 T -1.132 T 0.000 T 0.24 2.244 13.46 4.66 1.319 5.411 13.393 2.243903 2.243903 0.19 0.705569 0.631647 NA 0.703 NA 9.2596644 734 17 26708304 26708304 T G exonic SARM1 NA nonsynonymous SNV SARM1:NM_015077:exon3:c.T550G:p.S184A exonic ENSG00000004139,ENSG00000244045 NA nonsynonymous SNV ENSG00000004139:ENST00000457710:exon2:c.T451G:p.S151A,ENSG00000244045:ENST00000509083:exon6:c.T614G:p.V205G Score=343;Name=lod=33 NA 17q11.2 NA NA NA NA rs71373647 NA NA 1 1 1 1 1 1 1 NA NA NA NA 0.0833 0.99 0.66 T 0.0 B 0.0 B . . 0.000 P . . 1.05 T -0.973 T 0.000 T 0.076 1.631 11.41 5.01 1.121 3.931 12.933 1.631047 1.631047 0.45 0.990573 0.987279 NA NA NA 9.2594604 734 3 44974433 44974433 A C exonic ZDHHC3 NA nonsynonymous SNV ZDHHC3:NM_016598:exon6:c.T660G:p.H220Q exonic ENSG00000163812 NA nonsynonymous SNV ENSG00000163812:ENST00000296127:exon6:c.T660G:p.H220Q NA NA 3p21.31 NA NA NA NA rs3087823 0.01 0.01 0.01 0.0081869 0.0268 NA 0.0159 NA 0.0031 0.03 NA 0.01 NA 0.0179 0.03 0.29 T 0.0 B 0.002 B 0.706 N 1.000 N 1.415 L 1.22 T -1.046 T 0.021 T 0.031 1.734 11.76 -9.79 -1.478 -0.289 11.527 1.734136 1.734136 0.18 0.030349 0.005901 NA 0.007 NA 9.2582844 734 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 735 2 29246044 29246044 T C exonic FAM179A NA nonsynonymous SNV FAM179A:NM_199280:exon12:c.T1604C:p.V535A exonic ENSG00000189350 NA nonsynonymous SNV ENSG00000189350:ENST00000440012:exon2:c.T89C:p.V30A,ENSG00000189350:ENST00000403861:exon11:c.T1439C:p.V480A,ENSG00000189350:ENST00000379558:exon12:c.T1604C:p.V535A Score=405;Name=lod=59 NA 2p23.2 NA NA NA NA rs6721861 0.52 0.52 0.51 0.474441 0.3191 0.7044 0.3991 0.6218 0.2515 0.31 0.72 0.42 0.68 0.4306 0.72 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.645 N 2.54 T -0.964 T 0.000 T 0.251 0.067 4.363 4.61 0.680 3.939 10.474 0.066975 NA 1 0.330517 0.548364 ID=COSM442782;OCCURENCE=1(breast) 0.536 NA 9.2531164 735 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 735 4 100516022 100516022 C G exonic MTTP NA nonsynonymous SNV MTTP:NM_000253:exon8:c.C891G:p.H297Q exonic ENSG00000138823 NA nonsynonymous SNV ENSG00000138823:ENST00000265517:exon7:c.C891G:p.H297Q,ENSG00000138823:ENST00000511045:exon7:c.C972G:p.H324Q,ENSG00000138823:ENST00000457717:exon8:c.C891G:p.H297Q NA NA 4q23 NA NA NA NA rs2306985 0.51 0.51 0.549 0.542332 0.3151 0.6706 0.3069 0.8169 0.4397 0.3 0.68 0.29 0.78 0.4028 0.78 0.54 T 0.0 B 0.0 B 0.958 N 0.000 P -0.345 N 1.16 T -0.997 T 0.000 T 0.018 -2.083 0.006 -2.65 -1.251 -0.390 4.890 -2.082567 NA 0.58 0.363953 0.73468 NA 0.457 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117640.2;CLNDSDB=.;CLNDSDBID=. 9.2514804 735 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 735 3 134278270 134278270 C T exonic CEP63 NA nonsynonymous SNV CEP63:NM_025180:exon15:c.C1952T:p.S651L exonic ENSG00000182923 NA nonsynonymous SNV ENSG00000182923:ENST00000337090:exon14:c.C1952T:p.S651L,ENSG00000182923:ENST00000606977:exon14:c.C1952T:p.S651L,ENSG00000182923:ENST00000513612:exon15:c.C1952T:p.S651L Score=352;Name=lod=36 NA 3q22.2 NA NA NA NA rs1127826 0.36 0.36 0.31 0.327077 0.3668 0.6002 0.5288 0.0219 0.274 0.35 0.6 0.46 0.04 0.359 0.6 0.33 T 0.001 B 0.002 B 0.894 N 0.000 P 1.155 L 2.24 T -0.944 T 0.000 T 0.029 1.976 12.56 -2.93 -0.737 0.235 6.749 1.975602 1.975602 0.47 0.357558 0.091239 NA 0.254 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116680.1;CLNDSDB=.;CLNDSDBID=. 9.2499754 735 11 771034 771034 A G exonic PDDC1 NA synonymous SNV PDDC1:NM_182612:exon7:c.T615C:p.T205T exonic ENSG00000177225 NA synonymous SNV ENSG00000177225:ENST00000354286:exon6:c.T507C:p.T169T,ENSG00000177225:ENST00000442059:exon6:c.T465C:p.T155T,ENSG00000177225:ENST00000524550:exon6:c.T507C:p.T169T,ENSG00000177225:ENST00000319863:exon7:c.T615C:p.T205T NA NA 11p15.5 Score=729;Name=V$PAX4_04 NA NA NA rs7930569 0.49 0.49 0.427 0.432508 0.4433 0.5605 0.6037 0.3064 0.3384 0.45 0.63 0.58 0.32 0.482 0.63 . . . . . . . . 0.000 P . . . . -0.981 T 0.000 T . 0.597 7.217 -9.09 -2.024 -1.347 4.568 0.596652 NA NA 0.491512 0.342189 NA 0.37 NA 9.2498546 735 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 735 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 735 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=p300_(N-15),STAT3,BAF170,GATA3_(SC-268),AP-2alpha,CEBPB,AP-2gamma,GTF2F1_(RAP-74) 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 735 1 91404256 91404256 C A exonic ZNF644 NA nonsynonymous SNV ZNF644:NM_201269:exon3:c.G2655T:p.E885D exonic ENSG00000122482 NA nonsynonymous SNV ENSG00000122482:ENST00000337393:exon3:c.G2655T:p.E885D,ENSG00000122482:ENST00000370440:exon3:c.G2655T:p.E885D Score=638;Name=lod=523 NA 1p22.2 NA NA NA NA rs41286761 0.01 0.01 0.011 0.0101837 0.0328 NA 0.0173 0.0008 0.0051 0.03 NA 0.01 NA 0.0222 0.031 0.24 T 0.0 B 0.001 B 0.000 N 1.000 D 0.975 L 6.29 T -0.885 T 0.001 T 0.049 0.73 7.879 0.468 0.035 -0.251 1.121 0.729812 NA 0 0.031054 0.007717 NA 0.058 NA 9.2472794 736 1 157062739 157062739 C G exonic ETV3L NA nonsynonymous SNV ETV3L:NM_001004341:exon5:c.G788C:p.G263A exonic ENSG00000253831 NA nonsynonymous SNV ENSG00000253831:ENST00000454449:exon5:c.G788C:p.G263A NA NA 1q23.1 NA NA Name=35 NA rs12136960 0.18 0.18 0.181 0.153155 0.2048 0.2133 0.1311 0.1044 0.1196 0.21 0.23 0.16 0.1 0.1877 0.23 0.25 T 0.734 P 0.187 B . . 1.000 P 0.895 L 1.29 T -1.047 T 0.021 T 0.054 1.577 11.23 0.879 0.316 1.049 6.740 1.577096 1.577096 NA 0.197068 0.11376 NA 0.13 NA 9.2437654 736 12 118682751 118682751 C T exonic TAOK3 NA nonsynonymous SNV TAOK3:NM_016281:exon4:c.G140A:p.S47N exonic ENSG00000135090 NA nonsynonymous SNV ENSG00000135090:ENST00000535570:exon3:c.G140A:p.S47N,ENSG00000135090:ENST00000392533:exon4:c.G140A:p.S47N,ENSG00000135090:ENST00000419821:exon4:c.G140A:p.S47N,ENSG00000135090:ENST00000541878:exon4:c.G140A:p.S47N,ENSG00000135090:ENST00000542902:exon4:c.G140A:p.S47N,ENSG00000135090:ENST00000541186:exon5:c.G140A:p.S47N Score=630;Name=lod=484 NA 12q24.23 NA NA NA NA rs428073 0.71 0.71 0.701 0.73123 0.6829 0.7143 0.7608 0.7451 0.7587 0.69 0.69 0.73 0.74 0.7142 0.75 1 T 0.0 B 0.0 B 0.000 N 0.000 P 0.035 N 1.93 T -0.961 T 0.000 T 0.123 -0.176 3.141 5.14 0.979 3.274 11.074 -0.176414 NA 1 0.692674 0.746709 NA 0.812 NA 9.2435594 736 11 74053547 74053547 C T exonic PGM2L1 NA nonsynonymous SNV PGM2L1:NM_173582:exon12:c.G1591A:p.V531I exonic ENSG00000165434 NA nonsynonymous SNV ENSG00000165434:ENST00000298198:exon12:c.G1591A:p.V531I NA NA 11q13.4 Score=770;Name=V$STAT3_01 NA NA NA rs592644 0.73 0.73 0.708 0.740415 0.6849 0.7956 0.7133 0.7632 0.729 0.68 0.79 0.68 0.75 0.7157 0.79 0.09 T 0.001 B 0.005 B 0.150 N 1.000 P 1.42 L 1.56 T -0.974 T 0.000 T 0.015 1.915 12.36 -5.47 -1.312 -2.754 15.911 1.914689 1.914689 0.16 0.689306 0.763864 NA 0.688 NA 9.2434274 736 1 172501643 172501643 T C upstream SUCO NA NA NA exonic ENSG00000094975 NA nonsynonymous SNV ENSG00000094975:ENST00000367723:exon1:c.T31C:p.S11P NA NA 1q24.3 NA Name=MafF_(M8194),SP1,IRF1,Mxi1_(bHLH),Sin3Ak-20,eGFP-JunD,CEBPB,NF-YB,c-Fos,Pol2(b),TBP,GTF2F1_(RAP-74),USF1_(SC-8983),HA-E2F1,CHD2_(N-1250),USF2,Pol2,USF-1,GTF2B,MafK_(ab50322),SP2_(SC-643),eGFP-JunB,Pol2-4H8,PRDM1_(Val90),IRF3,TAF1,RFX5_(N-494),NF-YA Name=147 NA rs2239816 0.22 0.22 0.205 0.2498 0.2515 0.1885 0.2104 0.2118 0.3906 0.25 0.17 0.25 0.19 0.258 0.29 0 D . . . . 0.375 N 1.000 P . . . . -0.965 T 0.043 T 0.028 0.831 8.349 -1.3 -0.345 -1.854 4.479 0.830565 NA 0 0.248425 0.204948 ID=COSM146688;OCCURENCE=1(stomach) 0.283 NA 9.242075 736 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 736 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 736 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 736 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 736 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 736 16 69385641 69385641 A G exonic TMED6 NA nonsynonymous SNV TMED6:NM_144676:exon1:c.T16C:p.F6L exonic ENSG00000157315 NA nonsynonymous SNV ENSG00000157315:ENST00000288025:exon1:c.T16C:p.F6L NA NA 16q22.1 NA Name=TCF4,Pol2,HEY1 Name=12 NA rs76116020 0.02 0.02 0.007 0.0103834 0.0308 NA 0.0101 0.0015 0.0123 0.04 NA 0.01 0.002 0.025 0.04 0.38 T 0.0 B 0.0 B 0.218 N 1.000 N -0.145 N 1.84 T -1.013 T 0.006 T 0.063 -0.639 1.177 -0.443 -0.328 0.092 2.724 -0.639365 NA 0.69 0.03814 0.007962 NA 0.022 NA 9.2393934 736 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 736 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$RFX1_01 Name=CTCF Name=10 NA rs1687410 0.23 0.23 0.223 0.234225 0.1372 0.2827 0.1988 0.3631 0.135 0.13 0.28 0.21 0.33 0.158 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.649445 NA NA 0.132791 0.326827 NA 0.167 NA 9.2386756 736 17 2203025 2203025 T G exonic SMG6 NA nonsynonymous SNV SMG6:NM_017575:exon2:c.A1022C:p.N341T exonic ENSG00000070366 NA nonsynonymous SNV ENSG00000070366:ENST00000263073:exon2:c.A1022C:p.N341T,ENSG00000070366:ENST00000544865:exon2:c.A929C:p.N310T Score=431;Name=lod=75 NA 17p13.3 NA NA NA NA rs1885987 0.26 0.26 0.219 0.229433 0.3827 0.1716 0.438 0.0469 0.2301 0.37 0.17 0.45 0.06 0.3254 0.45 0.41 T 0.001 B 0.004 B 0.743 N 0.000 P 0 N 3.15 T -0.939 T 0.000 T 0.095 0.92 8.744 2.3 0.252 3.302 10.136 0.919722 NA 0 0.386628 0.093963 NA 0.246 NA 9.2386054 736 11 12315915 12315915 A G exonic MICALCL NA nonsynonymous SNV MICALCL:NM_032867:exon3:c.A937G:p.S313G exonic ENSG00000133808 NA nonsynonymous SNV ENSG00000133808:ENST00000256186:exon3:c.A937G:p.S313G NA NA 11p15.3 NA NA NA NA rs1493954 0.49 0.49 0.489 0.53095 0.3429 0.6786 0.4755 0.618 0.4939 0.34 0.67 0.43 0.58 0.416 0.67 0.4 T 0.076 B 0.029 B 0.006 N 1.000 P 1.445 L 1.17 T -0.979 T 0.000 T 0.063 1.101 9.494 5.41 2.049 3.504 11.819 1.101419 NA 0.09 0.335871 0.545059 NA 0.464 NA 9.2385624 736 5 75932869 75932869 C T exonic IQGAP2 NA synonymous SNV IQGAP2:NM_006633:exon16:c.C1791T:p.D597D exonic ENSG00000145703 NA nonsynonymous SNV ENSG00000145703:ENST00000509074:exon5:c.C443T:p.T148M Score=304;Name=lod=23 NA 5q13.3 Score=870;Name=V$COUP_01 NA NA NA rs2910819 0.54 0.54 0.539 0.550519 0.6083 0.4722 0.4942 0.5424 0.6227 0.6 0.51 0.51 0.51 0.5625 0.6 0.02 D . . . . . . 0.000 P . . 1.17 T -0.934 T 0.000 T . 4.114 21.2 0.504 -0.127 1.248 6.178 4.113915 4.113915 NA 0.591047 0.548797 ID=COSM149859;OCCURENCE=1(stomach) 0.58 NA 9.238153 736 16 2070200 2070200 G C exonic NPW NA nonsynonymous SNV NPW:NM_001099456:exon1:c.G298C:p.E100Q exonic ENSG00000183971 NA nonsynonymous SNV ENSG00000183971:ENST00000329610:exon1:c.G298C:p.E100Q,ENSG00000183971:ENST00000566435:exon1:c.G142C:p.E48Q NA NA 16p13.3 NA NA NA NA rs11248906 0.11 0.11 0.089 0.0928514 0.2256 NA 0.1311 0.0567 0.0736 0.22 NA 0.16 0.04 0.1888 0.22 0.08 T 0.992 D 0.824 P 0.074 U 1.000 P 0.46 N 0.74 T -1.085 T 0.000 T 0.069 1.451 10.79 2.12 0.652 0.835 6.177 1.45109 1.45109 0.13 0.183748 0.072892 NA 0.101 NA 9.2351854 737 18 29205591 29205591 T C exonic B4GALT6 NA nonsynonymous SNV B4GALT6:NM_004775:exon9:c.A1135G:p.I379V exonic ENSG00000118276 NA nonsynonymous SNV ENSG00000118276:ENST00000237019:exon8:c.A1018G:p.I340V,ENSG00000118276:ENST00000383131:exon8:c.A1018G:p.I340V,ENSG00000118276:ENST00000306851:exon9:c.A1135G:p.I379V Score=606;Name=lod=386 NA 18q12.1 NA Name=HA-E2F1,FOXA1_(SC-101058) NA NA rs34683195 0.02 0.02 0.02 0.013778 0.0338 NA 0.0216 0.0113 0.0051 0.04 NA 0.03 0.01 0.0263 0.04 1 T 0.0 B 0.003 B 0.085 N 0.989 N -0.34 N 1.24 T -1.025 T 0.011 T 0.048 -0.914 0.409 -0.794 -0.081 0.769 11.278 -0.914437 NA 0.81 0.039535 0.019973 NA 0.007 NA 9.2336984 737 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 737 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 737 15 55632859 55632859 G T exonic PIGB NA nonsynonymous SNV PIGB:NM_004855:exon8:c.G896T:p.W299L exonic ENSG00000069943 NA nonsynonymous SNV ENSG00000069943:ENST00000539642:exon5:c.G311T:p.W104L,ENSG00000069943:ENST00000164305:exon8:c.G896T:p.W299L Score=562;Name=lod=256 NA 15q21.3 NA NA NA NA rs678892 0.57 0.57 0.586 0.601238 0.3479 0.7639 0.4063 0.888 0.4448 0.33 0.74 0.41 0.87 0.4227 0.87 0.51 T 0.0 B 0.0 B 0.006 N 0.000 P -2.99 N 0.17 T -0.937 T 0.000 T 0.074 1.418 10.68 4.82 0.510 3.056 8.226 1.417882 1.417882 1 0.330692 0.765884 NA 0.667 NA 9.2320414 737 3 46501213 46501213 T C exonic LTF NA nonsynonymous SNV LTF:NM_001199149:exon2:c.A8G:p.K3R,LTF:NM_002343:exon2:c.A140G:p.K47R exonic ENSG00000012223 NA nonsynonymous SNV ENSG00000012223:ENST00000231751:exon2:c.A140G:p.K47R,ENSG00000012223:ENST00000415180:exon2:c.A8G:p.K3R,ENSG00000012223:ENST00000417439:exon2:c.A140G:p.K47R,ENSG00000012223:ENST00000426532:exon2:c.A8G:p.K3R,ENSG00000012223:ENST00000431944:exon3:c.A173G:p.K58R,ENSG00000012223:ENST00000443496:exon5:c.A101G:p.K34R NA NA 3p21.31 NA NA NA NA rs1126478 0.59 0.59 0.592 0.627396 0.3489 0.6498 0.487 0.9644 0.5348 0.35 0.65 0.47 0.96 0.4371 0.96 0.53 T 0.0 B 0.002 B 0.652 N 1.000 P 0.74 N 1.32 T -1.061 T 0.000 T 0.163 1.102 9.497 -9.66 -2.970 -2.120 6.321 1.102132 NA 0.25 0.316279 0.858602 NA 0.514 NA 9.2310544 737 4 83838262 83838262 G T exonic THAP9 NA nonsynonymous SNV THAP9:NM_024672:exon5:c.G897T:p.L299F exonic ENSG00000168152 NA nonsynonymous SNV ENSG00000168152:ENST00000302236:exon5:c.G897T:p.L299F Score=439;Name=lod=81 NA 4q21.22 NA NA NA NA rs897945 0.37 0.37 0.298 0.32528 0.5507 0.2004 0.6484 0.0651 0.3446 0.56 0.22 0.61 0.07 0.4939 0.61 0.43 T 0.906 P 0.272 B 0.528 N 0.000 P 0.55 N 0.88 T -0.952 T 0.000 T 0.194 0.558 7.015 2.85 1.141 0.295 9.192 0.557611 NA 0.35 0.558023 0.151158 NA 0.203 NA 9.2307104 737 18 8784612 8784612 A G exonic SOGA2 NA nonsynonymous SNV SOGA2:NM_015210:exon6:c.A1502G:p.Q501R exonic ENSG00000168502 NA nonsynonymous SNV ENSG00000168502:ENST00000520495:exon2:c.A1028G:p.Q343R,ENSG00000168502:ENST00000306329:exon5:c.A2582G:p.Q861R,ENSG00000168502:ENST00000517570:exon5:c.A1502G:p.Q501R,ENSG00000168502:ENST00000359865:exon6:c.A1502G:p.Q501R,ENSG00000168502:ENST00000400050:exon6:c.A1502G:p.Q501R NA NA 18p11.22 NA NA NA NA rs1965665 0.29 0.29 0.26 0.298123 0.3628 0.2242 0.4697 0.1324 0.41 0.36 0.25 0.41 0.13 0.3701 0.41 0.49 T 0.0 B 0.001 B 0.191 N 1.000 P -0.205 N 1.57 T -1.036 T 0.000 T 0.08 -3.784 0.001 -5.97 -4.169 -2.553 3.158 -3.784487 NA NA 0.37 0.181798 NA 0.341 NA 9.2304334 737 16 4484396 4484396 A T exonic DNAJA3 NA nonsynonymous SNV DNAJA3:NM_001135110:exon2:c.A223T:p.N75Y,DNAJA3:NM_005147:exon2:c.A223T:p.N75Y exonic ENSG00000103423 NA nonsynonymous SNV ENSG00000103423:ENST00000262375:exon2:c.A223T:p.N75Y,ENSG00000103423:ENST00000355296:exon2:c.A223T:p.N75Y,ENSG00000103423:ENST00000574895:exon2:c.A223T:p.N75Y Score=259;Name=lod=15 NA 16p13.3 NA Name=GATA-1,eGFP-GATA2 NA NA rs1139653 0.69 0.69 0.721 0.634984 0.6978 0.6954 0.6282 0.652 0.4898 0.71 0.74 0.66 0.64 0.6834 0.74 1 T 0.0 B 0.0 B 0.019 N 0.000 P -1.04 N -0.08 T -0.927 T 0.000 T 0.081 -1.701 0.011 5.2 0.816 1.204 6.299 -1.700991 NA 1 0.723023 0.664087 NA 0.681 NA 9.2291104 737 8 98788261 98788261 G T exonic LAPTM4B NA synonymous SNV LAPTM4B:NM_018407:exon1:c.G297T:p.T99T exonic ENSG00000104341 NA synonymous SNV ENSG00000104341:ENST00000445593:exon1:c.G297T:p.T99T,ENSG00000104341:ENST00000521545:exon1:c.G24T:p.T8T Score=608;Name=lod=396 NA 8q22.1 NA Name=c-Myc,AP-2gamma,CCNT2,HA-E2F1,E2F6_(H-50),E2F6,E2F1 Name=56 NA rs2449508 0.08 0.08 0.095 0.0836661 0.1471 NA 0.0908 0.0598 0.1319 0.14 NA 0.1 0.05 0.1342 0.16 . . . . . . . . 0.000 P . . . . -1.043 T 0.000 T . 0.122 4.659 0.755 0.269 0.802 2.151 0.122439 NA NA 0.158688 0.058958 ID=COSM1569493;OCCURENCE=1(large_intestine) 0.029 NA 9.2266786 737 1 154938662 154938662 T C exonic SHC1 NA nonsynonymous SNV SHC1:NM_001130040:exon9:c.A1228G:p.M410V,SHC1:NM_183001:exon9:c.A1228G:p.M410V,SHC1:NM_001130041:exon10:c.A898G:p.M300V,SHC1:NM_001202859:exon10:c.A763G:p.M255V,SHC1:NM_003029:exon10:c.A898G:p.M300V exonic ENSG00000160691 NA nonsynonymous SNV ENSG00000160691:ENST00000414115:exon6:c.A487G:p.M163V,ENSG00000160691:ENST00000368449:exon7:c.A541G:p.M181V,ENSG00000160691:ENST00000606391:exon7:c.A631G:p.M211V,ENSG00000160691:ENST00000368445:exon9:c.A1228G:p.M410V,ENSG00000160691:ENST00000448116:exon9:c.A1228G:p.M410V,ENSG00000160691:ENST00000368450:exon10:c.A898G:p.M300V,ENSG00000160691:ENST00000368453:exon10:c.A898G:p.M300V Score=410;Name=lod=62 NA 1q21.3 Score=907;Name=V$TAL1ALPHAE47_01 NA NA NA rs8191979 0.05 0.05 0.056 0.0605032 0.0278 0.002 0.0288 0.1505 0.0552 0.03 0.0017 0.03 0.17 0.0455 0.17 0.52 T 0.01 B 0.001 B 0.404 N 0.559 P 0.455 N 0.84 T -1.022 T 0.026 T 0.106 0.025 4.143 1.82 0.814 0.216 6.568 0.02486 NA 0.42 0.035 0.135497 NA 0.109 NA 9.2250334 738 8 17612846 17612846 T C exonic MTUS1 NA synonymous SNV MTUS1:NM_001001924:exon2:c.A471G:p.L157L,MTUS1:NM_001001925:exon2:c.A471G:p.L157L exonic ENSG00000129422 NA synonymous SNV ENSG00000129422:ENST00000519263:exon1:c.A471G:p.L157L,ENSG00000129422:ENST00000262102:exon2:c.A471G:p.L157L,ENSG00000129422:ENST00000381862:exon2:c.A471G:p.L157L,ENSG00000129422:ENST00000381869:exon2:c.A471G:p.L157L Score=265;Name=lod=16 NA 8p22 Score=889;Name=V$HNF3B_01 Name=GATA3_(SC-268),Rad21,SMC3_(ab9263),CTCF,CTCF_(SC-5916) Name=71 NA rs3739408 0.15 0.15 0.146 0.129792 0.1521 0.1478 0.232 0.0635 0.1053 0.15 0.16 0.26 0.07 0.1401 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.571462 NA NA 0.149795 0.075405 NA 0.225 NA 9.2246716 738 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 738 11 19167850 19167850 A G exonic ZDHHC13 NA nonsynonymous SNV ZDHHC13:NM_019028:exon3:c.A296G:p.K99R exonic ENSG00000177054 NA nonsynonymous SNV ENSG00000177054:ENST00000446113:exon3:c.A296G:p.K99R Score=595;Name=lod=350 NA 11p15.1 NA NA NA NA rs2271001 0.63 0.63 0.611 0.607628 0.6978 0.7262 0.7752 0.326 0.6544 0.69 0.72 0.76 0.34 0.692 0.76 0.46 T 0.023 B 0.066 B 0.000 N 0.000 P 0.485 N -0.25 T -0.967 T 0.000 T 0.078 2.287 13.6 4.23 0.970 4.421 9.944 2.286958 2.286958 0.13 0.719524 0.40956 NA 0.63 NA 9.2240094 738 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 738 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 738 12 55356258 55356258 C T exonic TESPA1 NA nonsynonymous SNV TESPA1:NM_014796:exon7:c.G1010A:p.R337Q,TESPA1:NM_001261844:exon8:c.G1010A:p.R337Q,TESPA1:NM_001098815:exon9:c.G1424A:p.R475Q,TESPA1:NM_001136030:exon9:c.G1424A:p.R475Q exonic ENSG00000135426 NA nonsynonymous SNV ENSG00000135426:ENST00000528240:exon1:c.G224A:p.R75Q,ENSG00000135426:ENST00000524622:exon7:c.G1010A:p.R337Q,ENSG00000135426:ENST00000532804:exon7:c.G1010A:p.R337Q,ENSG00000135426:ENST00000531122:exon8:c.G1010A:p.R337Q,ENSG00000135426:ENST00000316577:exon9:c.G1424A:p.R475Q,ENSG00000135426:ENST00000449076:exon9:c.G1424A:p.R475Q NA NA 12q13.2 NA NA NA NA rs61733025 0.02 0.02 0.02 0.0129792 0.0447 0.001 0.0144 0.0015 0.0072 0.04 NA 0.02 0.002 0.0256 0.041 0.37 T 0.005 B 0.002 B 0.742 N 1.000 N 0.46 N 0.89 T -1.045 T 0.015 T 0.087 -0.825 0.612 -3.31 -0.678 -3.735 6.658 -0.824677 NA 0.18 0.041366 0.007669 ID=COSM1362836,COSM1362835;OCCURENCE=1(large_intestine) NA NA 9.2216674 738 12 124274474 124274474 A G exonic DNAH10 NA nonsynonymous SNV DNAH10:NM_207437:exon11:c.A1438G:p.I480V exonic ENSG00000197653 NA nonsynonymous SNV ENSG00000197653:ENST00000409039:exon11:c.A1438G:p.I480V Score=349;Name=lod=35 NA 12q24.31 NA NA NA NA rs10846559 0.83 0.83 0.824 0.837859 0.7127 0.998 0.7738 0.8775 0.7935 0.7 1 0.78 0.86 0.7294 1 . . 0.0 B 0.001 B 0.097 N 1.000 P -1.9 N 0.54 T -0.960 T 0.000 T 0.013 -1.061 0.183 5.2 1.222 3.354 12.349 -1.060517 NA 1 0.669651 0.849523 NA 0.71 NA 9.2215824 738 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 738 5 223646 223646 A T exonic SDHA NA nonsynonymous SNV SDHA:NM_004168:exon2:c.A113T:p.D38V exonic ENSG00000073578 NA nonsynonymous SNV ENSG00000073578:ENST00000264932:exon2:c.A113T:p.D38V,ENSG00000073578:ENST00000504309:exon2:c.A113T:p.D38V,ENSG00000073578:ENST00000510361:exon2:c.A113T:p.D38V,ENSG00000073578:ENST00000509632:exon3:c.A211T:p.M71L NA NA 5p15.33 NA NA Name=14 NA rs34635677 0.01 0.01 0.014 0.0185703 0.0318 NA 0.0159 NA 0.0511 0.03 NA 0.01 NA 0.0353 0.046 0.57 T 0.001 B 0.002 B 0.023 U 1.000 N 1.245 L 0.25 T -1.079 T 0.039 T 0.361 1.366 10.49 1.56 0.319 2.727 8.397 1.366118 1.366118 0.41 0.045581 0.007944 NA NA NA 9.2206524 738 1 63881552 63881552 C T exonic ALG6 NA nonsynonymous SNV ALG6:NM_013339:exon11:c.C911T:p.S304F exonic ENSG00000088035 NA nonsynonymous SNV ENSG00000088035:ENST00000263440:exon10:c.C917T:p.S306F,ENSG00000088035:ENST00000371108:exon11:c.C911T:p.S304F NA NA 1p31.3 NA NA NA NA rs4630153 0.78 0.78 0.779 0.830471 0.6859 0.8571 0.7608 0.9032 0.9029 0.7 0.83 0.73 0.88 0.7514 0.88 0.31 T 0.0 B 0.001 B 0.100 N 1.000 P . . -1.61 D -1.019 T 0.185 T 0.079 -0.713 0.93 3.91 0.340 0.967 6.859 -0.713021 NA 0.09 0.676094 0.855813 NA 0.775 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081560.3;CLNDSDB=.;CLNDSDBID=. 9.2199394 738 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 738 12 119588962 119588962 G A exonic SRRM4 NA nonsynonymous SNV SRRM4:NM_194286:exon10:c.G1217A:p.R406Q exonic ENSG00000139767 NA nonsynonymous SNV ENSG00000139767:ENST00000267260:exon10:c.G1217A:p.R406Q Score=475;Name=lod=114 NA 12q24.23 NA NA NA NA rs2723880 0.28 0.28 0.266 0.245208 0.3966 0.1468 0.3804 0.1641 0.2045 0.41 0.14 0.38 0.15 0.3311 0.41 . . 0.098 B 0.008 B 0.137 N 1.000 P 1.245 L 1.81 T -0.914 T 0.000 T 0.094 4.265 22.3 2.63 1.489 0.685 3.804 4.265032 4.265032 0.19 0.386369 0.176215 NA 0.283 NA 9.2192644 738 19 11978828 11978828 G T exonic ZNF439 NA nonsynonymous SNV ZNF439:NM_152262:exon3:c.G944T:p.R315I exonic ENSG00000171291 NA nonsynonymous SNV ENSG00000171291:ENST00000304030:exon3:c.G944T:p.R315I,ENSG00000171291:ENST00000455282:exon3:c.G536T:p.R179I NA NA 19p13.2 NA NA Name=3 NA rs112352083 0.02 0.02 0.014 0.013778 0.0447 NA 0.0173 0.0023 0.0092 0.04 NA 0.02 0.002 0.0287 0.043 0.59 T 0.0 B 0.004 B . . 1.000 N 1.39 L 1.75 T -0.985 T 0.010 T 0.073 -0.256 2.769 -1.15 -0.470 -2.442 2.775 -0.256159 NA 0.45 0.042791 0.009532 NA 0.022 NA 9.2171424 738 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 738 12 95694394 95694394 G A exonic VEZT NA nonsynonymous SNV VEZT:NM_017599:exon12:c.G2285A:p.G762D exonic ENSG00000028203 NA nonsynonymous SNV ENSG00000028203:ENST00000436874:exon12:c.G2285A:p.G762D,ENSG00000028203:ENST00000261219:exon13:c.G2141A:p.G714D,ENSG00000028203:ENST00000397792:exon13:c.G2153A:p.G718D Score=572;Name=lod=281 NA 12q22 NA NA NA NA rs14121 0.75 0.75 0.761 0.756589 0.6839 0.6627 0.6859 0.9523 0.7137 0.69 0.68 0.72 0.94 0.7234 0.94 1 T 0.0 B 0.0 B 0.000 N 0.992 P -2.045 N 3.67 T -0.990 T 0.000 T 0.259 -0.331 2.429 5.65 0.972 5.981 11.761 -0.331318 NA 1 0.710212 0.922849 NA 0.775 NA 9.2158214 739 6 122773119 122773119 T C exonic SERINC1 NA nonsynonymous SNV SERINC1:NM_020755:exon6:c.A673G:p.S225G exonic ENSG00000111897 NA nonsynonymous SNV ENSG00000111897:ENST00000339697:exon6:c.A673G:p.S225G,ENSG00000111897:ENST00000368454:exon8:c.A673G:p.S225G Score=564;Name=lod=262 NA 6q22.31 NA NA NA NA rs17260829 0.02 0.02 0.019 0.0125799 0.0398 NA 0.0173 0.0015 0.0092 0.04 NA 0.02 0.002 0.032 0.047 1 T 0.0 B 0.0 B 0.000 N 0.805 N -1.975 N 2.78 T -0.940 T 0.002 T 0.028 0.378 6.052 0.556 0.099 1.773 8.713 0.377923 NA 1 0.046977 0.008852 NA NA NA 9.2145564 739 11 1027811 1027811 C T exonic MUC6 NA nonsynonymous SNV MUC6:NM_005961:exon16:c.G1855A:p.V619M exonic ENSG00000184956 NA nonsynonymous SNV ENSG00000184956:ENST00000421673:exon16:c.G1855A:p.V619M Score=477;Name=lod=116 NA 11p15.5 Score=776;Name=V$AHRARNT_02 NA NA NA rs7481521 0.44 0.44 0.413 0.396965 0.5666 0.3016 0.6527 0.2648 0.318 0.56 0.32 0.64 0.27 0.5057 0.64 0.3 T 0.99 D 0.772 P 0.015 U 0.213 P 1.735 L -1.24 T -0.877 T 0.000 T 0.172 0.288 5.557 1.73 0.155 0.415 7.790 0.287706 NA 0.49 0.547495 0.28568 ID=COSM428298,COSM428299;OCCURENCE=2(breast) 0.514 NA 9.2135384 739 6 159672419 159672419 G C exonic FNDC1 NA synonymous SNV FNDC1:NM_032532:exon17:c.G4920C:p.L1640L exonic ENSG00000164694 NA synonymous SNV ENSG00000164694:ENST00000340366:exon16:c.G4731C:p.L1577L,ENSG00000164694:ENST00000297267:exon17:c.G4920C:p.L1640L Score=481;Name=lod=120 NA 6q25.3 NA NA NA NA rs551392 0.22 0.22 0.218 0.219449 0.1382 0.3343 0.1772 0.1899 0.2546 0.13 0.35 0.16 0.23 0.1849 0.35 . . . . . . . . 0.000 P . . . . -1.044 T 0.088 T . 0.966 8.942 3.7 0.683 2.993 8.687 0.966161 NA NA 0.1303 0.174634 NA 0.116 NA 9.2132666 739 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 739 16 615048 615048 G A exonic C16orf11 NA nonsynonymous SNV C16orf11:NM_145270:exon3:c.G1457A:p.R486Q exonic ENSG00000161992 NA nonsynonymous SNV ENSG00000161992:ENST00000409413:exon3:c.G1457A:p.R486Q NA NA 16p13.3 NA NA NA NA rs113068385 0.02 0.02 0.01 0.0101837 0.0447 NA 0.0029 0.0008 0.0031 0.04 NA 0.01 NA 0.0423 0.04 0.41 T 0.0 B 0.001 B 0.018 N 1.000 N -1.04 N . . -1.044 T 0.005 T 0.007 0.94 8.83 -7.67 -1.772 0.058 1.635 0.939587 NA 0.63 0.035806 0.006087 ID=COSM1563588;OCCURENCE=1(large_intestine) 0.087 NA 9.2105274 739 X 35820425 35820425 C T exonic MAGEB16 NA nonsynonymous SNV MAGEB16:NM_001099921:exon2:c.C112T:p.L38F exonic ENSG00000189023 NA nonsynonymous SNV ENSG00000189023:ENST00000399985:exon2:c.C112T:p.L38F,ENSG00000189023:ENST00000399988:exon2:c.C112T:p.L38F,ENSG00000189023:ENST00000399989:exon2:c.C112T:p.L38F,ENSG00000189023:ENST00000399987:exon3:c.C112T:p.L38F,ENSG00000189023:ENST00000399992:exon3:c.C208T:p.L70F NA NA Xp21.1 NA NA NA NA rs1410961 0.61 0.61 0.63593 NA NA NA NA NA NA 0.54 0.74 0.58 0.59 0.5868 0.74 0.75 T 0.0 B 0.0 B . . 1.000 P 0 N 3.62 T -0.938 T 0.000 T 0.013 -0.762 0.782 -5.68 -2.022 -1.364 0.395 -0.76191 NA 0.71 0.53669 0.587644 NA 0.5 NA 9.2098434 739 19 58131623 58131623 G A exonic ZNF134 NA nonsynonymous SNV ZNF134:NM_003435:exon3:c.G136A:p.A46T exonic ENSG00000213762 NA nonsynonymous SNV ENSG00000213762:ENST00000396161:exon3:c.G136A:p.A46T,ENSG00000213762:ENST00000600883:exon4:c.G136A:p.A46T NA NA 19q13.43 NA NA NA NA rs10413455 0.09 0.09 0.077 0.086262 0.0348 0.1597 0.0749 0.1112 0.0378 0.04 0.15 0.08 0.11 0.0544 0.15 0.02 D 0.0 B 0.0 B . . 1.000 P -0.805 N 3.25 T -0.932 T 0.000 T 0.015 -1.148 0.104 -2.6 -0.674 -0.325 4.849 -1.147512 NA 1 0.035283 0.091266 NA 0.065 NA 9.2088504 739 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 739 16 56500132 56500132 C T exonic OGFOD1 NA nonsynonymous SNV OGFOD1:NM_018233:exon5:c.C517T:p.P173S exonic ENSG00000087263 NA nonsynonymous SNV ENSG00000087263:ENST00000561646:exon5:c.C352T:p.P118S,ENSG00000087263:ENST00000566157:exon5:c.C517T:p.P173S,ENSG00000087263:ENST00000568397:exon5:c.C517T:p.P173S Score=466;Name=lod=104 NA 16q12.2 NA NA NA NA rs34883368 0.06 0.06 0.043 0.0780751 0.0268 0.1657 0.0403 0.0174 0.1493 0.03 0.14 0.04 0.02 0.0607 0.14 0.2 T 0.001 B 0.024 B 0.019 N 0.022 P 1.72 L . . -1.097 T 0.001 T 0.291 1.463 10.84 -2.46 -0.337 0.361 6.680 1.462916 1.462916 0.52 0.038837 0.027298 NA 0.029 NA 9.2069964 739 11 20622975 20622975 G A exonic SLC6A5 NA nonsynonymous SNV SLC6A5:NM_004211:exon2:c.G304A:p.G102S exonic ENSG00000165970 NA nonsynonymous SNV ENSG00000165970:ENST00000298923:exon2:c.G304A:p.G102S,ENSG00000165970:ENST00000525748:exon2:c.G304A:p.G102S NA NA 11p15.1 NA Name=Rad21 Name=4 NA rs1443547 0.37 0.37 0.37 0.405751 0.3847 0.3651 0.3804 0.447 0.4315 0.37 0.35 0.35 0.41 0.4067 0.44 0.84 T 0.0 B 0.001 B 0.142 N 1.000 P -0.345 N -0.5 T -1.052 T 0.000 T 0.028 -0.543 1.537 -3.96 -0.904 -0.675 6.889 -0.542827 NA 0.56 0.335084 0.436446 NA 0.399 NA 9.2068494 739 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 739 17 72240177 72240177 T G exonic TTYH2 NA nonsynonymous SNV TTYH2:NM_032646:exon6:c.T793G:p.S265A exonic ENSG00000141540 NA nonsynonymous SNV ENSG00000141540:ENST00000269346:exon6:c.T793G:p.S265A,ENSG00000141540:ENST00000529107:exon6:c.T730G:p.S244A Score=251;Name=lod=14 NA 17q25.1 NA NA NA NA rs35999669 0.35 0.35 0.365 0.381989 0.3579 0.0972 0.3055 0.6225 0.4294 0.38 0.11 0.28 0.63 0.3817 0.63 1 T 0.0 B 0.001 B 0.000 N 0.000 P -1.665 N 3.16 T -0.964 T 0.000 T 0.329 0.113 4.61 4.04 0.539 2.541 6.888 0.11341 NA 1 0.387326 0.598502 ID=COSM437296;OCCURENCE=1(breast) 0.37 NA 9.2064074 739 21 43857602 43857602 C G exonic UBASH3A NA nonsynonymous SNV UBASH3A:NM_001001895:exon10:c.C1284G:p.D428E,UBASH3A:NM_001243467:exon10:c.C1284G:p.D428E,UBASH3A:NM_018961:exon11:c.C1398G:p.D466E exonic ENSG00000160185 NA nonsynonymous SNV ENSG00000160185:ENST00000291535:exon10:c.C1284G:p.D428E,ENSG00000160185:ENST00000398367:exon10:c.C1284G:p.D428E,ENSG00000160185:ENST00000319294:exon11:c.C1398G:p.D466E Score=309;Name=lod=24 NA 21q22.3 NA NA NA NA rs17114930 0.07 0.07 0.075 0.0617013 0.0447 NA 0.0418 0.1687 0.0123 0.05 NA 0.06 0.17 0.0418 0.17 1 T 0.001 B 0.005 B 0.258 N 0.000 P -1.41 N -0.45 T -1.079 T 0.000 T 0.022 -2.463 0.003 -2.35 -0.819 -0.154 5.382 -2.463196 NA 1 0.041047 0.143895 NA 0.13 NA 9.2057864 739 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 740 11 125452313 125452313 A G exonic EI24 NA nonsynonymous SNV EI24:NM_001007277:exon9:c.A745G:p.I249V exonic ENSG00000149547 NA nonsynonymous SNV ENSG00000149547:ENST00000343678:exon10:c.A743G:p.H248R NA NA 11q24.2 NA NA NA NA rs4627097 0.34 0.34 0.32 0.340455 0.3658 0.2976 0.2594 0.3835 0.3579 0.37 0.29 0.28 0.4 0.4124 0.4 0.11 T 0.0 B 0.0 B . . 0.000 P . . . . -0.949 T 0.000 T 0.406 1.078 9.401 -7.71 -1.390 -1.460 6.621 1.078074 NA 0.35 0.352393 0.367291 NA 0.29 NA 9.2027404 740 3 17208267 17208267 T C exonic TBC1D5 NA nonsynonymous SNV TBC1D5:NM_001134380:exon21:c.A2086G:p.I696V,TBC1D5:NM_014744:exon21:c.A2086G:p.I696V,TBC1D5:NM_001134381:exon23:c.A2152G:p.I718V exonic ENSG00000131374 NA nonsynonymous SNV ENSG00000131374:ENST00000253692:exon21:c.A2086G:p.I696V,ENSG00000131374:ENST00000429383:exon21:c.A2086G:p.I696V,ENSG00000131374:ENST00000446818:exon23:c.A2152G:p.I718V NA NA 3p24.3 NA NA NA NA rs1138454 0.26 0.26 0.233 0.267772 0.3936 0.0794 0.3112 0.2103 0.3793 0.39 0.06 0.32 0.25 0.3369 0.4 0.57 T 0.0 B 0.0 B 0.126 N 1.000 P 0 N 1.61 T -1.010 T 0.000 T 0.012 0.461 6.504 -9.41 -2.129 -2.064 4.398 0.461153 NA 0.39 0.400814 0.233772 NA 0.333 NA 9.2020194 740 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 740 5 180338368 180338368 A G exonic BTNL8 NA nonsynonymous SNV BTNL8:NM_001159707:exon2:c.A79G:p.T27A,BTNL8:NM_001040462:exon3:c.A427G:p.T143A,BTNL8:NM_001159708:exon3:c.A427G:p.T143A,BTNL8:NM_001159709:exon3:c.A52G:p.T18A,BTNL8:NM_024850:exon3:c.A427G:p.T143A exonic ENSG00000113303 NA nonsynonymous SNV ENSG00000113303:ENST00000511704:exon2:c.A79G:p.T27A,ENSG00000113303:ENST00000231229:exon3:c.A427G:p.T143A,ENSG00000113303:ENST00000340184:exon3:c.A427G:p.T143A,ENSG00000113303:ENST00000400707:exon3:c.A52G:p.T18A,ENSG00000113303:ENST00000508408:exon3:c.A427G:p.T143A NA NA 5q35.3 NA NA NA NA rs2276995 0.45 0.45 0.443 0.432508 0.3757 0.3462 0.4236 0.6702 0.2648 0.39 0.36 0.4 0.69 0.3796 0.69 0.34 T 0.0 B 0.0 B . . 1.000 P 0.75 N 3.31 T -1.011 T 0.000 T 0.023 0.737 7.914 -5.37 -1.000 -1.743 6.887 0.737065 NA 0.36 0.37791 0.643214 NA 0.391 NA 9.2001234 740 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 740 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=MafF_(M8194),MafK_(ab50322) 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 740 11 64799998 64799998 T C exonic SNX15 NA synonymous SNV SNX15:NM_013306:exon3:c.T231C:p.P77P,SNX15:NM_147777:exon3:c.T231C:p.P77P exonic ENSG00000110025 NA nonsynonymous SNV ENSG00000110025:ENST00000525648:exon3:c.T107C:p.L36P,ENSG00000110025:ENST00000529673:exon3:c.T299C:p.L100P NA NA 11q13.1 Score=885;Name=V$SPZ1_01 NA NA NA rs534236 0.43 0.43 0.391 0.374601 0.6213 0.1825 0.6052 0.2148 0.3712 0.63 0.18 0.62 0.27 0.5346 0.65 . . . . . . . . 0.001 P . . . . -0.928 T 0.000 T . 0.797 8.195 -7.72 -1.237 -4.252 0.510 0.796932 NA NA 0.646032 0.28896 NA 0.428 NA 9.198068 740 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 740 6 129762112 129762112 G A exonic LAMA2 NA synonymous SNV LAMA2:NM_000426:exon43:c.G6237A:p.T2079T,LAMA2:NM_001079823:exon43:c.G6237A:p.T2079T exonic ENSG00000196569 NA synonymous SNV ENSG00000196569:ENST00000421865:exon43:c.G6237A:p.T2079T Score=548;Name=lod=224 NA 6q22.33 NA Name=GATA2_(CG2-96),CTCF,c-Jun,KAP1,Rad21,JunD Name=78 NA rs2297738 0.18 0.18 0.156 0.182508 0.1551 0.2202 0.2334 0.1536 0.1748 0.16 0.23 0.23 0.12 0.1683 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.83138 NA NA 0.145698 0.125965 NA 0.13 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078786.2;CLNDSDB=.;CLNDSDBID=. 9.1975686 740 19 12936617 12936617 C G exonic RTBDN NA nonsynonymous SNV RTBDN:NM_001080997:exon6:c.G593C:p.G198A,RTBDN:NM_001270441:exon6:c.G623C:p.G208A,RTBDN:NM_001270442:exon6:c.G611C:p.G204A,RTBDN:NM_001270443:exon6:c.G593C:p.G198A,RTBDN:NM_001270444:exon6:c.G593C:p.G198A,RTBDN:NM_001270445:exon6:c.G575C:p.G192A,RTBDN:NM_031429:exon7:c.G689C:p.G230A exonic ENSG00000132026 NA nonsynonymous SNV ENSG00000132026:ENST00000458671:exon6:c.G593C:p.G198A,ENSG00000132026:ENST00000586969:exon6:c.G593C:p.G198A,ENSG00000132026:ENST00000589681:exon6:c.G575C:p.G192A,ENSG00000132026:ENST00000592204:exon6:c.G623C:p.G208A,ENSG00000132026:ENST00000322912:exon7:c.G689C:p.G230A NA NA 19p13.2 NA Name=Rad21,CTCF_(SC-5916),HMGN3,CTCF_(C-20),TAF1,E2F6,E2F6_(H-50),CTCF,Pol2 Name=46 NA rs13628 0.07 0.07 0.039 0.0638978 0.0398 0.0238 0.0879 0.1354 0.0164 0.04 0.03 0.07 0.14 0.0575 0.14 1 T 0.0 B 0.0 B 0.517 N 1.000 P -0.895 N 0.87 T -1.016 T 0.000 T 0.04 -0.761 0.785 1.18 -0.019 -0.004 5.274 -0.760752 NA 1 0.039232 0.101318 NA 0.051 NA 9.1968014 740 7 73254812 73254812 T C exonic WBSCR27 NA nonsynonymous SNV WBSCR27:NM_152559:exon4:c.A320G:p.Q107R exonic ENSG00000165171 NA nonsynonymous SNV ENSG00000165171:ENST00000297873:exon4:c.A320G:p.Q107R NA NA 7q11.23 Score=705;Name=V$P53_01 NA NA NA rs13241921 0.61 0.61 0.566 0.58127 0.7256 0.5813 0.6124 0.4637 0.5695 0.73 0.57 0.6 0.46 0.6764 0.73 1 T 0.0 B 0.0 B 0.079 N 1.000 P -0.775 N -0.03 T -0.970 T 0.000 T 0.015 -2.292 0.004 -3.02 -1.055 -1.422 12.233 -2.292375 NA 1 0.734756 0.515804 ID=COSM453359;OCCURENCE=1(breast),1(large_intestine) 0.435 NA 9.1965774 740 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 740 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 740 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 740 19 9088017 9088017 T G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon1:c.A3798C:p.K1266N exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon1:c.A3798C:p.K1266N NA NA 19p13.2 NA NA NA NA rs1596797 0.79 0.79 0.783 0.796326 0.6958 0.7292 0.8084 0.9652 0.7321 0.7 0.78 0.79 0.96 0.7434 0.96 0 D 0.0 B 0.0 B . . . . 0 N 4.18 T -0.996 T 0.000 T 0.005 -0.68 1.037 -2.01 -2.513 -1.685 0.403 -0.680086 NA 0.44 0.698559 0.9109 NA 0.783 NA 9.1955744 741 9 96052295 96052295 C G exonic WNK2 NA synonymous SNV WNK2:NM_006648:exon20:c.C4902G:p.A1634A exonic ENSG00000165238 NA synonymous SNV ENSG00000165238:ENST00000395477:exon20:c.C4902G:p.A1634A,ENSG00000165238:ENST00000427277:exon20:c.C3738G:p.A1246A,ENSG00000165238:ENST00000297954:exon21:c.C5013G:p.A1671A,ENSG00000165238:ENST00000349097:exon21:c.C3849G:p.A1283A NA NA 9q22.31 NA NA NA NA rs4744216 0.13 0.13 0.094 0.101438 0.165 0.0794 0.1931 0.0567 0.0542 0.16 0.1 0.18 0.07 0.1783 0.18 . . . . . . . . 1.000 P . . . . -1.048 T 0.000 T . 0.065 4.351 -7.75 -2.184 -2.141 4.998 0.064678 NA NA 0.129345 0.065257 NA 0.109 NA 9.1940216 741 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 741 4 170477125 170477125 G A exonic NEK1 NA nonsynonymous SNV NEK1:NM_001199399:exon16:c.C1313T:p.A438V,NEK1:NM_001199400:exon16:c.C1388T:p.A463V,NEK1:NM_012224:exon16:c.C1388T:p.A463V,NEK1:NM_001199397:exon17:c.C1388T:p.A463V,NEK1:NM_001199398:exon17:c.C1388T:p.A463V exonic ENSG00000137601 NA nonsynonymous SNV ENSG00000137601:ENST00000439128:exon16:c.C1388T:p.A463V,ENSG00000137601:ENST00000510533:exon16:c.C1388T:p.A463V,ENSG00000137601:ENST00000512193:exon16:c.C1313T:p.A438V,ENSG00000137601:ENST00000507142:exon17:c.C1388T:p.A463V,ENSG00000137601:ENST00000511633:exon17:c.C1388T:p.A463V NA NA 4q33 NA NA NA NA rs34540355 0.02 0.02 0.024 0.0161741 0.0497 NA 0.0317 0.0008 0.0082 0.04 NA 0.04 NA 0.0351 0.057 0.26 T 0.013 B 0.035 B 0.009 N 0.967 N 1.67 L -0.32 T -1.030 T 0.034 T 0.046 1.896 12.3 3.95 0.767 1.494 9.261 1.896204 1.896204 0.13 0.057205 0.010226 NA 0.014 NA 9.1913284 741 1 44137257 44137257 C A exonic KDM4A NA nonsynonymous SNV KDM4A:NM_014663:exon11:c.C1445A:p.A482E exonic ENSG00000066135 NA nonsynonymous SNV ENSG00000066135:ENST00000372396:exon11:c.C1445A:p.A482E Score=369;Name=lod=42 NA 1p34.1 NA Name=E2F4 NA NA rs586339 0.76 0.76 0.77 0.740216 0.7028 0.7946 0.5591 0.9478 0.5706 0.71 0.76 0.64 0.93 0.7111 0.93 1 T 0.0 B 0.0 B 0.615 N 1.000 P -1.78 N 2.59 T -0.969 T 0.000 T 0.091 0.038 4.211 4.34 0.437 2.658 11.697 0.037878 NA 1 0.728837 0.922152 NA 0.812 NA 9.1905964 741 12 11149720 11149720 A G exonic TAS2R20 NA nonsynonymous SNV TAS2R20:NM_176889:exon1:c.T755C:p.F252S exonic ENSG00000255837 NA nonsynonymous SNV ENSG00000255837:ENST00000538986:exon1:c.T755C:p.F252S NA NA 12p13.2 NA NA NA NA rs10845280 0.41 0.41 0.374 0.422923 0.3817 0.755 0.3847 0.0651 0.6339 0.37 0.74 0.43 0.07 0.4112 0.74 0.41 T 0.0 B 0.002 B 0.805 N 1.000 P -0.255 N 1.31 T -0.974 T 0.000 T 0.03 -0.876 0.49 -2.3 -1.545 -1.736 5.660 -0.875796 NA 0.35 0.350698 0.100318 NA 0.355 NA 9.1897354 741 16 820888 820888 T C downstream MIR662 NA NA NA exonic ENSG00000162006 NA nonsynonymous SNV ENSG00000162006:ENST00000442466:exon12:c.A1444G:p.T482A,ENSG00000162006:ENST00000543963:exon12:c.A1594G:p.T532A,ENSG00000162006:ENST00000293892:exon13:c.A2497G:p.T833A Score=313;Name=lod=25 NA 16p13.3 NA NA NA NA rs12599339 0.33 0.33 0.315 0.370407 0.2028 0.3284 0.3055 0.5802 0.3487 0.2 0.33 0.27 0.57 0.3925 0.57 1 T 0.0 B 0.0 B 0.000 N 1.000 P . . 3.36 T -0.979 T 0.000 T 0.064 -0.767 0.767 4.84 1.170 3.393 10.708 -0.767001 NA 1 0.215582 0.454499 ID=COSM1128859;OCCURENCE=1(prostate),1(large_intestine) 0.312 NA 9.189118 741 12 11149711 11149711 C A exonic TAS2R20 NA nonsynonymous SNV TAS2R20:NM_176889:exon1:c.G764T:p.R255L exonic ENSG00000255837 NA nonsynonymous SNV ENSG00000255837:ENST00000538986:exon1:c.G764T:p.R255L NA NA 12p13.2 NA NA NA NA rs10845279 0.41 0.41 0.382 0.423123 0.3827 0.755 0.3847 0.0651 0.6339 0.37 0.74 0.43 0.07 0.4111 0.74 1 T 0.0 B 0.001 B 0.479 N 1.000 P -2.83 N 5.74 T -0.918 T 0.000 T 0.063 -1.922 0.008 -5.32 -1.408 -1.312 4.833 -1.921931 NA 1 0.350698 0.100318 NA 0.355 NA 9.1888354 741 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 741 20 61880169 61880169 T G exonic NKAIN4 NA nonsynonymous SNV NKAIN4:NM_152864:exon3:c.A271C:p.K91Q exonic ENSG00000101198 NA nonsynonymous SNV ENSG00000101198:ENST00000370317:exon1:c.A61C:p.K21Q,ENSG00000101198:ENST00000370307:exon3:c.A85C:p.K29Q,ENSG00000101198:ENST00000370313:exon3:c.A85C:p.K29Q,ENSG00000101198:ENST00000370316:exon3:c.A271C:p.K91Q Score=529;Name=lod=188 NA 20q13.33 NA NA NA NA rs1129659 0.44 0.44 0.421 0.421126 0.3579 0.5069 0.4352 0.4349 0.3691 0.37 0.54 0.41 0.44 0.4122 0.54 0.31 T 0.009 B 0.033 B 0.000 N 1.000 P 1.39 L 2.38 T -0.939 T 0.000 T 0.033 -0.153 3.253 2.24 -0.136 1.467 10.226 -0.152941 NA 0.11 0.375756 0.419201 ID=COSM444202;OCCURENCE=1(breast) 0.464 NA 9.1874774 741 7 64439701 64439701 C T exonic ZNF117 NA nonsynonymous SNV ZNF117:NM_015852:exon4:c.G248A:p.C83Y exonic ENSG00000152926 NA nonsynonymous SNV ENSG00000152926:ENST00000282869:exon4:c.G248A:p.C83Y NA NA 7q11.21 NA NA NA NA rs3807069 0.39 0.39 0.388 0.387181 0.4016 0.4058 0.2637 0.3964 0.4284 0.42 0.39 0.32 0.4 0.3736 0.42 0.04 D 0.156 B 0.055 B . . 1.000 P 3.22 M 1.31 T -1.026 T 0.000 T 0.09 1.374 10.52 0.163 -0.224 1.008 5.985 1.374106 1.374106 0.09 0.370735 0.378336 NA 0.326 NA 9.1873984 741 22 26239850 26239850 C A exonic MYO18B NA nonsynonymous SNV MYO18B:NM_032608:exon18:c.C3357A:p.H1119Q exonic ENSG00000133454 NA nonsynonymous SNV ENSG00000133454:ENST00000335473:exon18:c.C3357A:p.H1119Q,ENSG00000133454:ENST00000407587:exon18:c.C3360A:p.H1120Q,ENSG00000133454:ENST00000536101:exon18:c.C3357A:p.H1119Q Score=393;Name=lod=53 NA 22q12.1 NA NA NA NA rs5761268 0.73 0.73 0.691 0.723442 0.6988 0.998 0.7622 0.444 0.816 0.71 1 0.73 0.46 0.734 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.695 N -2.06 D -0.932 T 0.000 T 0.127 -1.202 0.071 -3.23 -1.034 0.891 0.791 -1.201868 NA 1 0.713597 0.492703 NA 0.652 NA 9.1869364 741 13 113741590 113741590 G A exonic MCF2L NA synonymous SNV MCF2L:NM_001112732:exon22:c.G2415A:p.S805S,MCF2L:NM_024979:exon22:c.G2409A:p.S803S exonic ENSG00000126217 NA synonymous SNV ENSG00000126217:ENST00000375597:exon22:c.G2409A:p.S803S,ENSG00000126217:ENST00000375601:exon22:c.G2427A:p.S809S,ENSG00000126217:ENST00000375604:exon22:c.G2586A:p.S862S,ENSG00000126217:ENST00000397030:exon22:c.G2514A:p.S838S,ENSG00000126217:ENST00000421756:exon22:c.G2427A:p.S809S,ENSG00000126217:ENST00000423482:exon22:c.G2409A:p.S803S,ENSG00000126217:ENST00000434480:exon22:c.G2433A:p.S811S,ENSG00000126217:ENST00000442652:exon22:c.G2505A:p.S835S,ENSG00000126217:ENST00000535094:exon22:c.G2415A:p.S805S,ENSG00000126217:ENST00000375608:exon23:c.G2505A:p.S835S Score=549;Name=lod=228 NA 13q34 NA NA NA NA rs9604022 0.13 0.13 0.136 0.162141 0.1571 0.005 0.1311 0.2466 0.2372 0.14 0.01 0.15 0.25 0.1567 0.25 . . . . . . . . 0.000 P . . . . -0.983 T 0.000 T . -0.219 2.941 -2.28 -0.924 -1.073 1.852 -0.218814 NA NA 0.165969 0.215615 NA 0.145 NA 9.1868976 741 10 126715692 126715692 C T exonic CTBP2 NA nonsynonymous SNV CTBP2:NM_022802:exon1:c.G637A:p.D213N exonic ENSG00000175029 NA nonsynonymous SNV ENSG00000175029:ENST00000309035:exon1:c.G637A:p.D213N NA NA 10q26.13 NA NA NA NA rs3781408 0.06 0.06 0.064 0.0603035 0.0388 0.0417 0.0764 0.093 0.046 0.04 0.04 0.07 0.09 0.0545 0.09 0.32 T 0.078 B 0.014 B 0.197 N 1.000 N . . -2.15 D -1.036 T 0.028 T 0.057 0.146 4.785 1.31 0.180 1.124 7.203 0.14602 NA 0.24 0.053256 0.075579 NA 0.029 NA 9.1867774 741 5 96139464 96139464 C T exonic ERAP1 NA nonsynonymous SNV ERAP1:NM_001040458:exon2:c.G166A:p.E56K,ERAP1:NM_001198541:exon2:c.G166A:p.E56K,ERAP1:NM_016442:exon2:c.G166A:p.E56K exonic ENSG00000164307 NA nonsynonymous SNV ENSG00000164307:ENST00000296754:exon2:c.G166A:p.E56K,ENSG00000164307:ENST00000443439:exon2:c.G166A:p.E56K,ENSG00000164307:ENST00000507154:exon3:c.G166A:p.E56K NA NA 5q15 NA NA NA NA rs3734016 0.09 0.09 0.094 0.0858626 0.0408 0.1716 0.0865 0.0809 0.0501 0.04 0.17 0.08 0.07 0.0664 0.17 0.85 T 0.008 B 0.01 B 0.036 N 1.000 P -0.265 N 3.71 T -0.933 T 0.000 T 0.079 0.188 5.014 2.44 1.282 -0.070 1.208 0.188297 NA 0.65 0.039767 0.058783 NA 0.029 NA 9.1863664 741 22 26859942 26859942 C T exonic HPS4 NA nonsynonymous SNV HPS4:NM_152841:exon9:c.G1639A:p.V547M,HPS4:NM_022081:exon11:c.G1654A:p.V552M exonic ENSG00000100099 NA nonsynonymous SNV ENSG00000100099:ENST00000402105:exon9:c.G1639A:p.V547M,ENSG00000100099:ENST00000398141:exon10:c.G1693A:p.V565M,ENSG00000100099:ENST00000336873:exon11:c.G1654A:p.V552M,ENSG00000100099:ENST00000398145:exon11:c.G1654A:p.V552M Score=410;Name=lod=62 NA 22q12.1 Score=734;Name=V$NRSF_01 NA NA NA rs5752330 0.81 0.81 0.807 0.793131 0.9105 0.8026 0.7248 0.6694 0.8783 0.92 0.78 0.73 0.71 0.8488 0.92 0.08 T 0.993 D 0.662 P 0.003 N 0.978 P 2.33 M 1.93 T -1.065 T 0.000 T 0.246 2.831 15.43 1.94 0.196 0.717 8.743 2.831078 2.831078 0.09 0.88814 0.688379 ID=COSM444810,COSM444809;OCCURENCE=1(breast) 0.797 NA 9.1858934 742 1 212965284 212965284 C G exonic TATDN3 NA synonymous SNV TATDN3:NM_001042552:exon1:c.C21G:p.G7G,TATDN3:NM_001042553:exon1:c.C21G:p.G7G,TATDN3:NM_001146169:exon1:c.C21G:p.G7G,TATDN3:NM_001146170:exon1:c.C21G:p.G7G,TATDN3:NM_001146171:exon1:c.C21G:p.G7G exonic ENSG00000203705 NA synonymous SNV ENSG00000203705:ENST00000366973:exon1:c.C21G:p.G7G,ENSG00000203705:ENST00000366974:exon1:c.C21G:p.G7G,ENSG00000203705:ENST00000526641:exon1:c.C21G:p.G7G,ENSG00000203705:ENST00000526997:exon1:c.C21G:p.G7G,ENSG00000203705:ENST00000530441:exon1:c.C21G:p.G7G,ENSG00000203705:ENST00000531963:exon1:c.C21G:p.G7G,ENSG00000203705:ENST00000532324:exon1:c.C21G:p.G7G,ENSG00000203705:ENST00000533650:exon1:c.C21G:p.G7G NA NA 1q32.3 NA Name=ZEB1_(SC-25388),RFX5_(N-494),c-Jun,TAF1,IRF4_(M-17),BCL3,NFKB,EBF1_(C-8),Pol2-4H8,eGFP-JunB,GABP,MEF2A,HEY1,ELF1_(SC-631),STAT1,HNF4A,HNF4G_(SC-6558),ZZZ3,GATA-1,Pol2,FOSL2,FOXA1_(C-20),USF-1,HA-E2F1,CHD2_(N-1250),TCF12,p300,HDAC2_(SC-6296),POU2F2,MafK_(ab50322),GTF2B,CTCF,ELK4,Pol2(b),TBP,CCNT2,EBF,TR4,Egr-1,NANOG_(SC-33759),YY1,BRCA1_(C-1863),WHIP,CEBPB,HNF4A_(H-171),ZNF263,GR,GTF2F1_(RAP-74),STAT2,JunD,SMC3_(ab9263),BAF155,Max,TCF4,YY1_(C-20),Rad21,c-Myc,Oct-2,SRF,p300_(N-15),TAL1_(SC-12984),IRF1,SP1,GATA3_(SC-268),Sin3Ak-20,BAF170,SIX5,E2F4,eGFP-JunD,RXRA,MEF2C_(SC-13268),PAX5-C20,NRSF,Mxi1_(bHLH) Name=148 NA rs61736926 0.21 0.21 0.263 0.227835 0.1541 0.1538 0.1196 0.3986 0.226 0.15 0.16 0.13 0.44 0.1751 0.44 . . . . . . . . 1.000 P . . . . -0.945 T 0.000 T . 0.596 7.215 -3.62 -0.757 -0.132 9.110 0.596217 NA NA 0.153605 0.362171 ID=COSM425259;OCCURENCE=1(breast) 0.304 NA 9.1838616 742 7 150730999 150730999 G A exonic ABCB8 NA nonsynonymous SNV ABCB8:NM_007188:exon2:c.G403A:p.V135I exonic ENSG00000197150 NA nonsynonymous SNV ENSG00000197150:ENST00000358849:exon2:c.G403A:p.V135I,ENSG00000197150:ENST00000477092:exon2:c.G403A:p.V135I,ENSG00000197150:ENST00000477719:exon2:c.G403A:p.V135I,ENSG00000197150:ENST00000498578:exon2:c.G403A:p.V135I,ENSG00000197150:ENST00000297504:exon3:c.G454A:p.V152I,ENSG00000197150:ENST00000356058:exon3:c.G514A:p.V172I Score=414;Name=lod=64 NA 7q36.1 NA NA NA NA rs4148844 0.06 0.06 0.075 0.0597045 0.0497 0.0615 0.049 0.0809 0.047 0.05 0.08 0.05 0.07 0.0542 0.08 0.64 T 0.006 B 0.027 B 0.001 N 1.000 N 0.455 N -2.31 D -1.002 T 0.030 T 0.056 -0.776 0.743 0.441 -0.008 -0.014 6.314 -0.775803 NA 1 0.045698 0.064911 NA 0.072 NA 9.1837354 742 17 80391684 80391684 A G exonic HEXDC NA nonsynonymous SNV HEXDC:NM_173620:exon5:c.A433G:p.I145V exonic ENSG00000169660 NA nonsynonymous SNV ENSG00000169660:ENST00000327949:exon4:c.A433G:p.I145V,ENSG00000169660:ENST00000580235:exon4:c.A157G:p.I53V,ENSG00000169660:ENST00000337014:exon5:c.A433G:p.I145V,ENSG00000169660:ENST00000577944:exon5:c.A433G:p.I145V Score=389;Name=lod=51 NA 17q25.3 NA NA NA NA rs4789773 0.56 0.56 0.541 0.563299 0.3678 0.9018 0.6239 0.5008 0.4571 0.35 0.9 0.59 0.48 0.444 0.9 0.19 T 0.106 B 0.137 B 0.001 N 0.994 P 1.91 M -2.86 D -0.962 T 0.000 T 0.31 0.016 4.098 0.036 -0.641 0.196 10.933 0.01625 NA 0.14 0.338417 0.473725 NA 0.42 NA 9.1831164 742 10 123844172 123844172 G T exonic TACC2 NA nonsynonymous SNV TACC2:NM_206862:exon4:c.G2157T:p.E719D exonic ENSG00000138162 NA nonsynonymous SNV ENSG00000138162:ENST00000334433:exon3:c.G2157T:p.E719D,ENSG00000138162:ENST00000453444:exon3:c.G2157T:p.E719D,ENSG00000138162:ENST00000369005:exon4:c.G2157T:p.E719D,ENSG00000138162:ENST00000515273:exon4:c.G2157T:p.E719D,ENSG00000138162:ENST00000515603:exon4:c.G2157T:p.E719D NA NA 10q26.13 NA NA NA NA rs41288002 0.02 0.02 0.017 0.0171725 0.0596 NA 0.0216 0.0015 0.0092 0.06 NA 0.02 0.002 0.0366 0.06 0 D 0.229 B 0.081 B 0.003 N 1.000 P 1.04 L 3.67 T -1.013 T 0.002 T 0.075 2.408 14.01 2.56 0.023 0.483 7.231 2.407725 2.407725 0.03 0.054302 0.009532 NA 0.007 NA 9.1828314 742 3 9425944 9425944 G C exonic THUMPD3 NA synonymous SNV THUMPD3:NM_001114092:exon9:c.G1284C:p.R428R,THUMPD3:NM_015453:exon9:c.G1284C:p.R428R exonic ENSG00000134077 NA synonymous SNV ENSG00000134077:ENST00000345094:exon9:c.G1284C:p.R428R,ENSG00000134077:ENST00000452837:exon9:c.G1284C:p.R428R,ENSG00000134077:ENST00000515662:exon9:c.G1284C:p.R428R NA NA 3p25.3 Score=770;Name=V$STAT3_01 Name=Pol2-4H8,Pol2 NA NA rs1046788 0.13 0.13 0.096 0.10603 0.1879 0.0615 0.2248 0.0348 0.0798 0.19 0.08 0.23 0.05 0.1491 0.23 . . . . . . . . 0.000 P . . . . -0.994 T 0.000 T . 0.652 7.498 -3.01 -0.398 0.545 5.137 0.65212 NA NA 0.148372 0.060826 NA 0.072 NA 9.1812946 742 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 742 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 742 9 116931666 116931666 A T exonic COL27A1 NA nonsynonymous SNV COL27A1:NM_032888:exon3:c.A1831T:p.I611F exonic ENSG00000196739 NA nonsynonymous SNV ENSG00000196739:ENST00000451716:exon1:c.A1672T:p.I558F,ENSG00000196739:ENST00000356083:exon3:c.A1831T:p.I611F Score=336;Name=lod=31 NA 9q32 NA NA NA NA rs2567705 0.3 0.3 0.299 0.290935 0.4215 0.1151 0.2795 0.3654 0.2454 0.4 0.1 0.31 0.37 0.3403 0.4 1 T 0.0 B 0.0 B . . 1.000 P -1.1 N -2.73 D -1.008 T 0.000 T 0.31 1.624 11.39 4.66 0.823 0.927 7.589 1.623941 1.623941 1 0.391628 0.377667 NA 0.428 NA 9.1799054 742 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 742 1 22179244 22179244 C T exonic HSPG2 NA nonsynonymous SNV HSPG2:NM_005529:exon52:c.G6673A:p.G2225S exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000374695:exon52:c.G6673A:p.G2225S NA NA 1p36.12 NA Name=Pol2 NA NA rs35669711 0.02 0.02 0.017 0.0347444 0.0487 NA 0.0245 0.0023 0.1074 0.05 NA 0.03 0.0041 0.0509 0.057 0.07 T 0.299 B 0.228 B 0.807 N 1.000 N 2.205 M -0.83 T -0.861 T 0.072 T 0.056 1.223 9.963 1.57 0.394 -0.182 8.045 1.223344 NA 0.21 0.057093 0.009532 NA 0.022 NA 9.1766404 742 11 2950558 2950558 A G exonic PHLDA2 NA synonymous SNV PHLDA2:NM_003311:exon1:c.T37C:p.L13L exonic ENSG00000181649 NA synonymous SNV ENSG00000181649:ENST00000314222:exon1:c.T37C:p.L13L Score=757;Name=lod=1595 NA 11p15.4 Score=774;Name=V$PAX5_02 Name=HEY1,Pol2-4H8,TAF1,E2F6,E2F6_(H-50),TCF12,HA-E2F1,Pol2,Pol2(phosphoS2),YY1,Pol2(b),TBP,CCNT2,Mxi1_(bHLH),Sin3Ak-20,c-Myc,TAL1_(SC-12984) Name=137 NA rs13390 0.09 0.09 0.072 0.0708866 0.173 0.002 0.0879 0.0552 0.046 0.18 0.0017 0.11 0.05 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 1.847396 1.847396 NA 0.179879 0.067654 ID=COSM428888;OCCURENCE=1(breast) 0.058 NA 9.1760876 742 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 742 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$STAT5A_02 NA NA NA rs34587586 0.36 0.36 0.328 0.35603 0.3877 0.3581 0.3458 0.3253 0.3701 0.37 0.37 0.39 0.32 0.3688 0.4 0.63 T 0.008 B 0.219 B 0.001 N 0.000 P 0.58 N 2.47 T -0.899 T 0.000 T 0.266 0.616 7.318 4.47 0.512 0.604 5.396 0.616383 NA 0.39 0.401512 0.337267 NA 0.457 NA 9.1753214 743 13 25009485 25009485 C G exonic PARP4 NA nonsynonymous SNV PARP4:NM_006437:exon31:c.G3794C:p.G1265A exonic ENSG00000102699 NA nonsynonymous SNV ENSG00000102699:ENST00000381989:exon31:c.G3794C:p.G1265A NA NA 13q12.12 NA NA NA NA rs1050110 0.39 0.39 0.376 0.386382 0.4175 0.3601 0.3473 0.4856 0.2751 0.42 0.32 0.33 0.46 0.3696 0.48 0.79 T 0.0 B 0.0 B 0.005 N 1.000 P 0.695 N 4.75 T -0.935 T 0.000 T 0.027 -2.709 0 -2.08 -1.265 -2.921 4.05 -2.709352 NA 1 0.372558 0.475715 NA 0.355 NA 9.1736754 743 12 89917518 89917518 A G exonic GALNT4,POC1B-GALNT4 NA nonsynonymous SNV GALNT4:NM_003774:exon1:c.T809C:p.I270T,POC1B-GALNT4:NM_001199781:exon3:c.T800C:p.I267T exonic ENSG00000257594,ENSG00000259075 NA nonsynonymous SNV ENSG00000257594:ENST00000529983:exon1:c.T809C:p.I270T,ENSG00000259075:ENST00000548729:exon3:c.T800C:p.I267T Score=523;Name=lod=178 NA 12q21.33 NA NA NA NA rs2230281 0.73 0.73 0.752 0.733626 0.7217 0.7361 0.6513 0.7428 0.7894 0.73 0.8 0.63 0.75 0.7133 0.8 0.24 T 0.0 B 0.0 B . . 0.000 P -1.7 N 0.14 T -0.985 T 0.000 T 0.084 0.33 5.791 4.59 1.366 5.606 11.511 0.330207 NA NA 0.724708 0.755426 NA 0.688 NA 9.1736254 743 17 34854280 34854280 G A exonic MYO19 NA nonsynonymous SNV MYO19:NM_025109:exon22:c.C1987T:p.L663F,MYO19:NM_001163735:exon26:c.C2587T:p.L863F exonic ENSG00000141140 NA nonsynonymous SNV ENSG00000141140:ENST00000268852:exon21:c.C1987T:p.L663F,ENSG00000141140:ENST00000431794:exon25:c.C2587T:p.L863F NA NA 17q12 Score=843;Name=V$ARP1_01 NA Name=5 NA rs2306590 0.3 0.3 0.316 0.256589 0.3946 0.3462 0.2925 0.0295 0.3037 0.39 0.39 0.3 0.04 0.3462 0.42 0.85 T 0.011 B 0.011 B 0.032 N 0.996 P 1.23 L -0.82 T -1.009 T 0.000 T 0.064 1.5 10.96 1.75 0.139 1.305 9.012 1.49961 1.49961 0 0.418968 0.076403 ID=COSM148250;OCCURENCE=1(stomach) 0.203 NA 9.1735654 743 13 25000617 25000617 C G exonic PARP4 NA nonsynonymous SNV PARP4:NM_006437:exon33:c.G4966C:p.A1656P exonic ENSG00000102699 NA nonsynonymous SNV ENSG00000102699:ENST00000381989:exon33:c.G4966C:p.A1656P NA NA 13q12.12 NA NA NA NA rs7571 0.42 0.42 0.432 0.419928 0.4105 0.3671 0.3559 0.6233 0.2546 0.42 0.32 0.35 0.61 0.3766 0.61 0.32 T 0.002 B 0.002 B 0.174 N 1.000 P 1.04 L -2.39 D -0.956 T 0.000 T 0.089 0.452 6.453 -4.32 -0.515 -2.291 3.820 0.451821 NA 0.33 0.372907 0.568997 ID=COSM147645;OCCURENCE=1(stomach) 0.399 NA 9.1733264 743 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 743 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 743 19 58152361 58152361 T A exonic ZNF211 NA synonymous SNV ZNF211:NM_001265600:exon3:c.T324A:p.T108T,ZNF211:NM_198855:exon3:c.T507A:p.T169T,ZNF211:NM_001265598:exon4:c.T663A:p.T221T,ZNF211:NM_006385:exon4:c.T546A:p.T182T,ZNF211:NM_001265597:exon5:c.T702A:p.T234T,ZNF211:NM_001265599:exon5:c.T480A:p.T160T exonic ENSG00000121417 NA synonymous SNV ENSG00000121417:ENST00000347302:exon3:c.T507A:p.T169T,ENSG00000121417:ENST00000391703:exon3:c.T324A:p.T108T,ENSG00000121417:ENST00000420680:exon3:c.T519A:p.T173T,ENSG00000121417:ENST00000240731:exon4:c.T546A:p.T182T,ENSG00000121417:ENST00000541801:exon4:c.T480A:p.T160T,ENSG00000121417:ENST00000254182:exon5:c.T480A:p.T160T,ENSG00000121417:ENST00000299871:exon5:c.T702A:p.T234T,ENSG00000121417:ENST00000544273:exon5:c.T543A:p.T181T NA NA 19q13.43 NA NA NA NA rs3746219 0.22 0.22 0.226 0.214058 0.159 0.3214 0.1297 0.2352 0.1912 0.16 0.31 0.14 0.27 0.1796 0.31 . . . . . . . . 1.000 P . . . . -0.962 T 0.000 T . -0.113 3.445 -3.05 -1.426 -2.114 1.596 -0.113268 NA NA 0.156512 0.222424 NA 0.196 NA 9.1715546 743 5 94939193 94939193 A G exonic ARSK NA nonsynonymous SNV ARSK:NM_198150:exon8:c.A1574G:p.Q525R exonic ENSG00000164291 NA nonsynonymous SNV ENSG00000164291:ENST00000380009:exon8:c.A1574G:p.Q525R NA NA 5q15 NA NA NA NA rs17084927 0.07 0.07 0.076 0.0728834 0.0567 0.1081 0.0591 0.0363 0.1125 0.06 0.12 0.05 0.04 0.0633 0.12 0.96 T 0.0 B 0.0 B 0.756 N 1.000 P -0.145 N -4.75 D -0.502 T 0.033 T 0.038 -0.828 0.603 -2.58 -0.355 0.254 8.007 -0.828377 NA 0.72 0.041977 0.03291 NA 0.022 NA 9.1713564 743 1 110019439 110019439 A G exonic SYPL2 NA nonsynonymous SNV SYPL2:NM_001040709:exon4:c.A296G:p.E99G exonic ENSG00000143028 NA nonsynonymous SNV ENSG00000143028:ENST00000369872:exon4:c.A296G:p.E99G,ENSG00000143028:ENST00000401021:exon4:c.A296G:p.E99G NA NA 1p13.3 NA NA NA NA rs62623713 0.03 0.03 0.023 0.0301518 0.0547 0.002 0.0159 0.0144 0.0654 0.06 0.0017 0.02 0.02 0.0515 0.06 0.58 T 0.005 B 0.011 B 0.677 N 1.000 N -0.325 N 1.45 T -0.953 T 0.011 T 0.047 0.554 6.996 3.32 0.421 1.418 7.140 0.553889 NA 0.38 0.056723 0.02669 NA 0.036 NA 9.1704104 743 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 743 11 55339652 55339652 C T exonic OR4C16 NA stopgain OR4C16:NM_001004701:exon1:c.C49T:p.Q17X exonic ENSG00000181935 NA stopgain ENSG00000181935:ENST00000314634:exon1:c.C49T:p.Q17X NA NA 11q11 NA NA NA NA rs1459101 0.28 0.28 0.253 0.252596 0.2843 0.3909 0.3242 0.1014 0.2311 0.29 0.37 0.35 0.1 0.2804 0.37 0.02 D . . . . 0.023 N 0.000 P . . . . . . . . . 2.886 15.62 0.756 0.253 -1.242 5.491 2.886232 2.886232 0.03 0.266527 0.127442 NA 0.225 NA 9.168773 743 1 156622252 156622252 G A exonic BCAN NA nonsynonymous SNV BCAN:NM_021948:exon8:c.G1510A:p.E504K,BCAN:NM_198427:exon8:c.G1510A:p.E504K exonic ENSG00000132692 NA nonsynonymous SNV ENSG00000132692:ENST00000329117:exon8:c.G1510A:p.E504K,ENSG00000132692:ENST00000361588:exon8:c.G1510A:p.E504K Score=272;Name=lod=17 NA 1q23.1 NA NA NA NA rs1056695 0.33 0.33 0.341 0.374201 0.3926 0.3532 0.3718 0.2595 0.5337 0.39 0.34 0.33 0.23 0.3953 0.39 0.48 T 0.228 B 0.083 B 0.010 N 0.847 P 0.895 L 3.16 T -0.975 T 0.009 T 0.18 0.641 7.441 2.81 0.569 1.020 5.998 0.640635 NA 0.19 0.376805 0.265107 NA 0.464 NA 9.1686284 743 20 43976991 43976991 A G exonic SDC4 NA nonsynonymous SNV SDC4:NM_002999:exon1:c.T34C:p.F12L exonic ENSG00000124145 NA nonsynonymous SNV ENSG00000124145:ENST00000372733:exon1:c.T34C:p.F12L Score=289;Name=lod=20 NA 20q13.12 NA Name=Sin3Ak-20,c-Myc,TAL1_(SC-12984),JunD,Pol2(b),Egr-1,AP-2gamma,TBP,CCNT2,AP-2alpha,YY1,ZBTB7A_(SC-34508),TCF12,TAF7_(SQ-8),Pol2,Pol2(phosphoS2),HA-E2F1,HEY1,NELFe,E2F1,TAF1,Pol2-4H8 Name=128 NA rs2228384 0.34 0.34 0.312 0.3123 0.3807 0.4216 0.3012 0.1324 0.3804 0.39 0.46 0.35 0.1 0.4449 0.46 0.72 T 0.0 B 0.0 B 0.354 N 0.000 P -1.845 N 1.72 T -0.934 T 0.000 T 0.044 1.728 11.74 1.9 0.091 0.205 5.835 1.727977 1.727977 1 0.339953 0.162362 ID=COSM443897;OCCURENCE=1(breast) 0.109 NA 9.1677804 743 4 1843324 1843324 C T exonic LETM1 NA nonsynonymous SNV LETM1:NM_012318:exon3:c.G344A:p.R115H exonic ENSG00000168924 NA nonsynonymous SNV ENSG00000168924:ENST00000302787:exon3:c.G344A:p.R115H NA NA 4p16.3 NA NA Name=3 NA rs116753949 0.02 0.02 0.02 0.0203674 0.0557 0.001 0.0375 0.0045 0.0133 0.05 0.0017 0.04 0.01 0.0437 0.066 0.6 T 0.003 B 0.002 B 0.086 N 1.000 N 0.895 L . . -1.081 T 0.007 T 0.062 1.281 10.19 2.04 0.632 0.233 3.648 1.280899 1.280899 0.32 0.066279 0.012483 NA 0.007 NA 9.1676544 743 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 743 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 743 7 138455988 138455988 A G exonic ATP6V0A4 NA nonsynonymous SNV ATP6V0A4:NM_130840:exon2:c.T5C:p.V2A,ATP6V0A4:NM_130841:exon2:c.T5C:p.V2A,ATP6V0A4:NM_020632:exon3:c.T5C:p.V2A exonic ENSG00000105929 NA nonsynonymous SNV ENSG00000105929:ENST00000353492:exon2:c.T5C:p.V2A,ENSG00000105929:ENST00000393054:exon2:c.T5C:p.V2A,ENSG00000105929:ENST00000310018:exon3:c.T5C:p.V2A Score=371;Name=lod=43 NA 7q34 Score=777;Name=V$YY1_02 NA NA NA rs10258719 0.66 0.66 0.673 0.679513 0.7376 0.5327 0.5576 0.7375 0.7791 0.74 0.52 0.61 0.73 0.704 0.75 0.14 T 0.0 B 0.0 B 0.000 N 1.000 P -1.095 N -1.79 D -0.931 T 0.000 T 0.046 1.023 9.179 1.95 -0.008 1.244 6.399 1.023017 NA 0.17 0.725116 0.746028 NA 0.739 NA 9.1666174 744 5 154291409 154291409 C T exonic GEMIN5 NA nonsynonymous SNV GEMIN5:NM_001252156:exon15:c.G2042A:p.R681Q,GEMIN5:NM_015465:exon15:c.G2045A:p.R682Q exonic ENSG00000082516 NA nonsynonymous SNV ENSG00000082516:ENST00000285873:exon15:c.G2045A:p.R682Q Score=473;Name=lod=112 NA 5q33.2 NA NA NA NA rs1974777 0.83 0.83 0.821 0.816893 0.8867 0.8919 0.7767 0.6717 0.8926 0.89 0.9 0.82 0.67 0.8718 0.91 0.72 T 0.926 P 0.185 B 0.064 N 0.960 P -0.245 N 0.24 T -0.903 T 0.000 T 0.169 1.651 11.48 4.7 1.350 1.607 8.654 1.651251 1.651251 0.67 0.910698 0.699501 NA 0.841 NA 9.1641354 744 2 48018081 48018081 A G exonic MSH6 NA synonymous SNV MSH6:NM_000179:exon2:c.A276G:p.P92P exonic ENSG00000116062 NA synonymous SNV ENSG00000116062:ENST00000234420:exon2:c.A276G:p.P92P,ENSG00000116062:ENST00000445503:exon2:c.A276G:p.P92P Score=642;Name=lod=540 NA 2p16.3 Score=799;Name=V$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 744 6 28543089 28543089 G T exonic SCAND3 NA nonsynonymous SNV SCAND3:NM_052923:exon3:c.C1393A:p.Q465K exonic ENSG00000232040 NA nonsynonymous SNV ENSG00000232040:ENST00000452236:exon3:c.C1393A:p.Q465K Score=521;Name=lod=174 NA 6p22.1 NA NA NA NA rs41270593 0.04 0.04 0.042 0.0459265 0.0596 0.005 0.0432 0.0855 0.0225 0.06 0.01 0.03 0.07 0.0514 0.072 0.3 T 0.02 B 0.011 B . . 0.999 N 0.345 N 1.01 T -0.987 T 0.023 T 0.124 -0.1 3.511 2.29 0.662 0.789 8.606 -0.099739 NA 0.21 0.062326 0.072174 NA 0.051 NA 9.1600074 744 4 154644537 154644537 T C exonic RNF175 NA nonsynonymous SNV RNF175:NM_173662:exon5:c.A475G:p.M159V exonic ENSG00000145428 NA nonsynonymous SNV ENSG00000145428:ENST00000508248:exon3:c.A295G:p.M99V,ENSG00000145428:ENST00000274068:exon4:c.A91G:p.M31V,ENSG00000145428:ENST00000503694:exon4:c.A320G:p.H107R,ENSG00000145428:ENST00000347063:exon5:c.A475G:p.M159V Score=489;Name=lod=130 NA 4q31.3 NA NA NA NA rs10517577 0.11 0.11 0.091 0.0932508 0.2247 0.004 0.1628 0.0053 0.1196 0.24 0.0017 0.17 0.0041 0.2162 0.24 0.27 T 0.565 P 0.222 B 0.000 N 0.005 P 1.735 L -1.08 T -1.125 T 0.000 T 0.146 2.35 13.82 0.707 0.136 3.291 7.410 2.350213 2.350213 0.14 0.232583 0.041408 NA 0.196 NA 9.1598504 744 9 123688217 123688217 G A exonic TRAF1 NA nonsynonymous SNV TRAF1:NM_005658:exon2:c.C137T:p.P46L,TRAF1:NM_001190945:exon3:c.C137T:p.P46L exonic ENSG00000056558 NA nonsynonymous SNV ENSG00000056558:ENST00000373887:exon2:c.C137T:p.P46L,ENSG00000056558:ENST00000540010:exon3:c.C137T:p.P46L Score=355;Name=lod=37 NA 9q33.2 NA Name=Pol2-4H8,Pol2 NA NA rs34119250 0.03 0.03 0.023 0.0341454 0.0567 0.003 0.036 0.0068 0.0787 0.06 0.0017 0.04 0.01 0.0528 0.066 0.46 T 0.0 B 0.0 B 0.453 U 0.989 N -0.895 N 1.69 T -0.971 T 0.002 T 0.042 0.052 4.284 0.251 -0.115 0.266 7.773 0.05191 NA 0.84 0.065814 0.020881 NA 0.065 NA 9.1580194 744 1 232940953 232940953 T C exonic MAP10 NA nonsynonymous SNV MAP10:NM_019090:exon1:c.T184C:p.S62P exonic ENSG00000212916 NA nonsynonymous SNV ENSG00000212916:ENST00000418460:exon1:c.T184C:p.S62P NA NA 1q42.2 NA Name=HA-E2F1,CHD2_(N-1250),Pol2 NA NA rs10797593 0.1 0.1 0.101 0.11881 0.0567 0.1369 0.0836 0.1861 0.0982 0.06 0.12 0.08 0.16 0.0726 0.18 0 D . . . . . . 1.000 P . . . . -1.043 T 0.000 T 0.035 2.268 13.54 0.208 0.018 -0.732 2.071 2.268241 2.268241 NA 0.046833 0.180885 ID=COSM146821;OCCURENCE=1(stomach) 0.087 NA 9.1572004 744 10 91487649 91487649 A T exonic KIF20B NA nonsynonymous SNV KIF20B:NM_016195:exon17:c.A2147T:p.N716I exonic ENSG00000138182 NA nonsynonymous SNV ENSG00000138182:ENST00000260753:exon17:c.A2147T:p.N716I,ENSG00000138182:ENST00000371728:exon17:c.A2267T:p.N756I,ENSG00000138182:ENST00000394289:exon17:c.A2267T:p.N756I,ENSG00000138182:ENST00000416354:exon17:c.A2267T:p.N756I Score=329;Name=lod=29 NA 10q23.31 NA NA NA NA rs12572012 0.23 0.23 0.197 0.209065 0.2416 0.3621 0.2133 0.0492 0.2311 0.24 0.38 0.21 0.05 0.232 0.38 0.2 T 0.996 D 0.731 P 0.052 N 0.997 P 1.265 L 2.25 T -0.924 T 0.000 T 0.164 1.684 11.59 1.09 0.024 0.333 2.577 1.683508 1.683508 0 0.202778 0.072311 NA 0.181 NA 9.1569554 744 14 92920371 92920371 C T exonic SLC24A4 NA synonymous SNV SLC24A4:NM_153646:exon11:c.C1008T:p.P336P,SLC24A4:NM_153648:exon11:c.C816T:p.P272P,SLC24A4:NM_153647:exon12:c.C951T:p.P317P exonic ENSG00000140090 NA synonymous SNV ENSG00000140090:ENST00000298877:exon11:c.C957T:p.P319P,ENSG00000140090:ENST00000351924:exon11:c.C900T:p.P300P,ENSG00000140090:ENST00000393265:exon11:c.C816T:p.P272P,ENSG00000140090:ENST00000532405:exon11:c.C1008T:p.P336P,ENSG00000140090:ENST00000531433:exon12:c.C951T:p.P317P Score=545;Name=lod=218 NA 14q32.12 NA NA NA NA rs7144273 0.57 0.57 0.583 0.561102 0.5 0.5952 0.4092 0.7126 0.4918 0.5 0.6 0.45 0.73 0.5039 0.73 . . . . . . . . 0.000 P . . . . . . . . . 1.379 10.54 4.5 1.271 0.997 7.665 1.378955 1.378955 NA 0.50593 0.674308 ID=COSM1371609;OCCURENCE=1(large_intestine) 0.616 NA 9.1568366 744 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 744 9 20988426 20988426 A G exonic FOCAD NA nonsynonymous SNV FOCAD:NM_017794:exon43:c.A5002G:p.K1668E exonic ENSG00000188352 NA nonsynonymous SNV ENSG00000188352:ENST00000605086:exon29:c.A3310G:p.K1104E,ENSG00000188352:ENST00000338382:exon40:c.A5002G:p.K1668E,ENSG00000188352:ENST00000380249:exon43:c.A5002G:p.K1668E Score=361;Name=lod=39 NA 9p21.3 NA NA NA NA rs4977881 0.78 0.78 0.778 0.76857 0.7147 0.9385 0.7176 0.7943 0.6503 0.73 0.92 0.72 0.76 0.7424 0.92 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.25 N 2.4 T -0.972 T 0.000 T 0.226 -0.895 0.448 5.26 1.638 1.576 12.809 -0.895031 NA 1 0.720116 0.787562 NA 0.754 NA 9.1561174 745 17 3631241 3631241 A G exonic ITGAE NA nonsynonymous SNV ITGAE:NM_002208:exon26:c.T3056C:p.V1019A exonic ENSG00000083457 NA nonsynonymous SNV ENSG00000083457:ENST00000263087:exon26:c.T3056C:p.V1019A NA NA 17p13.2 NA NA NA NA rs2976230 0.28 0.28 0.301 0.281749 0.2396 0.0476 0.2061 0.6513 0.1207 0.24 0.04 0.22 0.64 0.2166 0.64 0.15 T 0.625 P 0.252 B . . 1.000 P 1.245 L 0.8 T -0.948 T 0.000 T 0.074 0.58 7.129 3.19 0.450 1.346 7.235 0.579584 NA 0.07 0.222326 0.562415 NA 0.232 NA 9.1548074 745 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 745 1 248004877 248004877 C T exonic OR11L1 NA nonsynonymous SNV OR11L1:NM_001001959:exon1:c.G322A:p.G108S exonic ENSG00000197591 NA nonsynonymous SNV ENSG00000197591:ENST00000355784:exon1:c.G322A:p.G108S NA NA 1q44 NA NA NA NA rs10888257 0.88 0.88 0.887 0.871006 0.8986 0.996 0.8732 0.7126 0.9264 0.91 1 0.89 0.71 0.8983 1 0.29 T 0.998 D 0.892 P 0.002 U 0.996 P 2.28 M 4.44 T -0.950 T 0.000 T 0.073 1.24 10.04 3.29 1.126 0.208 10.106 1.240398 1.240398 0.05 0.882093 0.728325 NA 0.833 NA 9.1543404 745 3 160131347 160131347 A G exonic SMC4 NA nonsynonymous SNV SMC4:NM_005496:exon7:c.A1067G:p.N356S,SMC4:NM_001002800:exon8:c.A1067G:p.N356S exonic ENSG00000113810 NA nonsynonymous SNV ENSG00000113810:ENST00000344722:exon7:c.A1067G:p.N356S,ENSG00000113810:ENST00000462787:exon7:c.A1067G:p.N356S,ENSG00000113810:ENST00000357388:exon8:c.A1067G:p.N356S,ENSG00000113810:ENST00000360111:exon8:c.A1067G:p.N356S,ENSG00000113810:ENST00000469762:exon8:c.A992G:p.N331S,ENSG00000113810:ENST00000489573:exon8:c.A1067G:p.N356S NA NA 3q25.33 NA NA NA NA rs33999879 0.05 0.05 0.042 0.0399361 0.0746 0.0427 0.0245 0.0159 0.045 0.08 0.04 0.04 0.02 0.0553 0.08 0.65 T 0.0 B 0.002 B 0.435 N 1.000 N -0.3 N 3.32 T -1.082 T 0.011 T 0.023 -0.747 0.824 -4.47 -1.109 -0.074 16.313 -0.747454 NA 0.63 0.049416 0.019116 NA 0.167 NA 9.1540174 745 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 745 17 3119297 3119297 G A exonic OR1A1 NA nonsynonymous SNV OR1A1:NM_014565:exon1:c.G383A:p.R128H exonic ENSG00000172146 NA nonsynonymous SNV ENSG00000172146:ENST00000304094:exon1:c.G383A:p.R128H Score=460;Name=lod=99 NA 17p13.3 Score=693;Name=V$PPARG_02 NA NA NA rs4375699 0.06 0.06 0.054 0.0605032 0.0547 NA 0.0432 0.1566 0.0112 0.05 NA 0.06 0.14 0.0576 0.15 1 T 0.004 B 0.004 B 0.014 N 0.991 P -0.875 N 7.57 T -1.070 T 0.000 T 0.111 -1.122 0.124 1.92 0.310 -0.104 7.649 -1.12208 NA 1 0.068605 0.151384 NA 0.08 NA 9.1524284 745 20 57478807 57478807 C T exonic GNAS NA synonymous SNV GNAS:NM_001077489:exon4:c.C348T:p.I116I,GNAS:NM_080426:exon4:c.C351T:p.I117I,GNAS:NM_000516:exon5:c.C393T:p.I131I,GNAS:NM_001077488:exon5:c.C396T:p.I132I,GNAS:NM_080425:exon5:c.C2322T:p.I774I exonic ENSG00000087460 NA synonymous SNV ENSG00000087460:ENST00000265620:exon4:c.C348T:p.I116I,ENSG00000087460:ENST00000371095:exon4:c.C351T:p.I117I,ENSG00000087460:ENST00000371102:exon4:c.C2280T:p.I760I,ENSG00000087460:ENST00000603023:exon4:c.C171T:p.I57I,ENSG00000087460:ENST00000603560:exon4:c.C174T:p.I58I,ENSG00000087460:ENST00000605724:exon4:c.C174T:p.I58I,ENSG00000087460:ENST00000306090:exon5:c.C351T:p.I117I,ENSG00000087460:ENST00000349036:exon5:c.C444T:p.I148I,ENSG00000087460:ENST00000354359:exon5:c.C396T:p.I132I,ENSG00000087460:ENST00000371085:exon5:c.C393T:p.I131I,ENSG00000087460:ENST00000371100:exon5:c.C2322T:p.I774I,ENSG00000087460:ENST00000603546:exon5:c.C216T:p.I72I,ENSG00000087460:ENST00000604005:exon5:c.C216T:p.I72I,ENSG00000087460:ENST00000605058:exon5:c.C216T:p.I72I,ENSG00000087460:ENST00000605324:exon5:c.C219T:p.I73I,ENSG00000087460:ENST00000605560:exon5:c.C216T:p.I72I,ENSG00000087460:ENST00000605722:exon6:c.C219T:p.I73I NA NA 20q13.32 NA Name=c-Myc,SP1 Name=7 NA rs7121 0.61 0.61 0.629 0.644369 0.4742 0.6716 0.6124 0.8139 0.5849 0.45 0.64 0.63 0.83 0.5473 0.83 . . . . . . . . 0.000 P . . . . -1.095 T 0.000 T . 1.253 10.08 -9.18 -2.651 -0.313 21.031 1.252619 1.252619 NA 0.492791 0.748525 NA 0.587 NA 9.1523756 745 17 17707105 17707105 T C exonic RAI1 NA synonymous SNV RAI1:NM_030665:exon4:c.T5601C:p.I1867I exonic ENSG00000108557 NA synonymous SNV ENSG00000108557:ENST00000353383:exon4:c.T5601C:p.I1867I NA NA 17p11.2 NA NA NA NA rs3818717 0.3 0.3 0.257 0.240615 0.5318 0.0754 0.3847 0.1248 0.1656 0.53 0.06 0.42 0.12 0.4214 0.56 0.17 T . . . . 0.011 N 0.000 P . . . . -0.999 T 0.000 T . 1.451 10.79 -6.98 -1.125 -1.200 6.628 1.450792 1.450792 0 0.56186 0.189741 NA 0.377 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082273.3;CLNDSDB=.;CLNDSDBID=. 9.1516066 745 16 88552370 88552370 A G exonic ZFPM1 NA nonsynonymous SNV ZFPM1:NM_153813:exon2:c.A64G:p.R22G exonic ENSG00000179588 NA nonsynonymous SNV ENSG00000179588:ENST00000319555:exon2:c.A64G:p.R22G NA NA 16q24.2 NA NA NA NA rs3751673 0.52 0.52 0.542 0.533746 0.3588 0.4891 0.5634 0.7405 0.4591 0.35 0.52 0.54 0.77 0.4487 0.77 1 T 0.0 B 0.0 B 0.048 N 1.000 P -1.5 N 3.3 T -0.965 T 0.000 T 0.013 -0.236 2.861 -5.43 -1.708 -1.363 4.763 -0.23609 NA 1 0.375 0.690574 NA 0.696 NA 9.1508334 745 1 100575933 100575933 G A exonic SASS6 NA nonsynonymous SNV SASS6:NM_194292:exon8:c.C776T:p.A259V exonic ENSG00000156876 NA nonsynonymous SNV ENSG00000156876:ENST00000535161:exon7:c.C275T:p.A92V,ENSG00000156876:ENST00000287482:exon8:c.C776T:p.A259V NA NA 1p21.2 NA NA NA NA rs13375867 0.4 0.4 0.348 0.35024 0.3867 0.5813 0.5562 0.0658 0.3129 0.38 0.62 0.52 0.09 0.3994 0.62 0.31 T 0.018 B 0.009 B 0.014 N 1.000 P 0.06 N -1.16 T -1.060 T 0.097 T 0.034 1.457 10.82 3.41 2.474 1.271 5.270 1.456932 1.456932 NA 0.396512 0.130731 NA 0.391 NA 9.1507214 745 1 162737116 162737116 C G exonic DDR2 NA synonymous SNV DDR2:NM_006182:exon11:c.C1260G:p.L420L,DDR2:NM_001014796:exon12:c.C1260G:p.L420L exonic ENSG00000162733 NA synonymous SNV ENSG00000162733:ENST00000458105:exon1:c.C90G:p.L30L,ENSG00000162733:ENST00000367921:exon11:c.C1260G:p.L420L,ENSG00000162733:ENST00000367922:exon12:c.C1260G:p.L420L Score=684;Name=lod=806 NA 1q23.3 NA NA NA NA rs2298258 0.32 0.32 0.302 0.348442 0.1461 0.4077 0.353 0.5023 0.2843 0.13 0.41 0.31 0.51 0.2242 0.51 0 D . . . . 0.000 D 0.718 P . . -0.83 T -0.552 T 0.289 T . 1.119 9.562 1.65 0.034 0.218 9.314 1.118647 NA NA 0.146977 0.472537 NA 0.283 NA 9.1493896 745 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 745 16 55897289 55897289 C T exonic CES5A NA nonsynonymous SNV CES5A:NM_001143685:exon6:c.G781A:p.E261K,CES5A:NM_145024:exon6:c.G781A:p.E261K,CES5A:NM_001190158:exon7:c.G868A:p.E290K exonic ENSG00000159398 NA nonsynonymous SNV ENSG00000159398:ENST00000290567:exon6:c.G781A:p.E261K,ENSG00000159398:ENST00000319165:exon6:c.G781A:p.E261K,ENSG00000159398:ENST00000518005:exon6:c.G463A:p.E155K,ENSG00000159398:ENST00000520435:exon6:c.G691A:p.E231K,ENSG00000159398:ENST00000521992:exon7:c.G868A:p.E290K NA NA 16q12.2 NA NA NA NA rs11076126 0.13 0.13 0.102 0.122404 0.0447 0.2282 0.1758 0.1029 0.0818 0.04 0.26 0.15 0.11 0.0931 0.26 0.17 T 0.0 B 0.0 B 0.083 N 1.000 P -0.385 N -0.2 T -1.071 T 0.000 T 0.081 -0.635 1.191 3.64 0.395 0.978 4.197 -0.635334 NA 1 0.046628 0.098954 NA 0.058 NA 9.1489054 745 14 52520368 52520368 C T exonic NID2 NA nonsynonymous SNV NID2:NM_007361:exon5:c.G1358A:p.G453D exonic ENSG00000087303 NA nonsynonymous SNV ENSG00000087303:ENST00000216286:exon5:c.G1358A:p.G453D,ENSG00000087303:ENST00000541773:exon6:c.G1199A:p.G400D NA NA 14q22.1 Score=789;Name=V$ER_Q6 NA NA NA rs2101919 0.58 0.58 0.569 0.571086 0.7525 0.4425 0.5648 0.447 0.6892 0.76 0.46 0.57 0.45 0.6807 0.76 0.57 T 0.006 B 0.009 B 0.485 N 1.000 P 0 N -1.6 D -1.012 T 0.000 T 0.117 0.386 6.095 -5.03 -0.995 -0.119 10.746 0.385827 NA 0.18 0.751512 0.500681 NA 0.493 NA 9.1486214 745 19 17108135 17108135 C T exonic CPAMD8 NA nonsynonymous SNV CPAMD8:NM_015692:exon11:c.G1022A:p.R341Q exonic ENSG00000160111 NA nonsynonymous SNV ENSG00000160111:ENST00000291440:exon11:c.G1022A:p.R341Q,ENSG00000160111:ENST00000388925:exon11:c.G881A:p.R294Q,ENSG00000160111:ENST00000443236:exon11:c.G1022A:p.R341Q Score=420;Name=lod=68 NA 19p13.11 NA NA NA NA rs3745340 0.37 0.37 0.344 0.329273 0.3976 0.5 0.353 0.1649 0.2883 0.4 0.48 0.41 0.18 0.4111 0.48 0.34 T 0.001 B 0.0 B 0.006 N 1.000 P -1.245 N 0.72 T -0.913 T 0.000 T 0.078 1.133 9.619 -3.79 -0.514 2.354 6.629 1.133286 NA 0.34 0.376169 0.19727 NA 0.188 NA 9.1484644 745 1 20972111 20972111 G A exonic PINK1 NA nonsynonymous SNV PINK1:NM_032409:exon5:c.G1018A:p.A340T exonic ENSG00000158828 NA nonsynonymous SNV ENSG00000158828:ENST00000321556:exon5:c.G1018A:p.A340T NA NA 1p36.12 NA NA NA NA rs3738136 0.1 0.1 0.069 0.122804 0.0457 0.2748 0.0576 0.0106 0.2434 0.04 0.27 0.06 0.02 0.0921 0.27 1 T 0.002 B 0.002 B 0.000 N 1.000 P 0.1 N -0.82 T -1.075 T 0.000 T 0.114 -0.203 3.016 2.4 0.497 1.251 4.692 -0.202792 NA 1 0.047326 0.018157 NA 0.029 NA 9.1482074 745 6 42627434 42627434 G A exonic UBR2 NA nonsynonymous SNV UBR2:NM_015255:exon30:c.G3283A:p.A1095T exonic ENSG00000024048 NA nonsynonymous SNV ENSG00000024048:ENST00000372899:exon30:c.G3283A:p.A1095T,ENSG00000024048:ENST00000372901:exon30:c.G3283A:p.A1095T Score=455;Name=lod=94 NA 6p21.1 NA NA NA NA rs6917033 0.44 0.44 0.439 0.431909 0.3857 0.4385 0.389 0.5015 0.409 0.41 0.45 0.42 0.48 0.4078 0.48 0.51 T 0.233 B 0.036 B 0.004 N 0.000 P 0.69 N 0.98 T -1.049 T 0.026 T 0.032 1.227 9.977 2.77 0.290 1.338 11.619 1.227046 NA 0.24 0.39186 0.48207 NA 0.399 NA 9.1479734 745 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 745 3 150128994 150128994 T G exonic TSC22D2 NA synonymous SNV TSC22D2:NM_014779:exon1:c.T1857G:p.P619P exonic ENSG00000196428 NA synonymous SNV ENSG00000196428:ENST00000361136:exon1:c.T1857G:p.P619P,ENSG00000196428:ENST00000361875:exon1:c.T1857G:p.P619P Score=578;Name=lod=299 NA 3q25.1 Score=845;Name=V$HAND1E47_01 NA Name=108 NA rs34647320 0.09 0.09 0.077 0.0824681 0.172 0.0317 0.0879 0.0386 0.0982 0.17 0.05 0.09 0.03 0.1476 0.2 . . . . . . . . 0.000 P . . . . -1.032 T 0.000 T . 0.76 8.025 1.23 0.244 0.378 3.318 0.760446 NA NA 0.199651 0.071266 NA 0.065 NA 9.1474156 745 7 76144483 76144483 A G exonic UPK3B NA nonsynonymous SNV UPK3B:NM_030570:exon4:c.A878G:p.Q293R,UPK3B:NM_182683:exon5:c.A713G:p.Q238R,UPK3B:NM_182684:exon6:c.A793G:p.K265E exonic ENSG00000243566 NA nonsynonymous SNV ENSG00000243566:ENST00000257632:exon4:c.A878G:p.Q293R,ENSG00000243566:ENST00000419923:exon4:c.A878G:p.Q293R,ENSG00000243566:ENST00000448265:exon4:c.A878G:p.Q293R,ENSG00000243566:ENST00000394849:exon5:c.A713G:p.Q238R,ENSG00000243566:ENST00000334348:exon6:c.A793G:p.K265E,ENSG00000243566:ENST00000443097:exon6:c.A793G:p.K265E NA NA 7q11.23 Score=812;Name=V$AHRARNT_02 NA NA NA rs1636632 0.37 0.37 0.319 0.340855 0.4036 0.4425 0.3847 0.211 0.316 0.4 0.45 0.4 0.2 0.396 0.45 1 T 0.0 B 0.0 B 0.017 N 1.000 P 0 N 1.47 T -0.967 T 0.000 T 0.207 -1.052 0.193 3.76 0.952 0.888 9.203 -1.051771 NA 1 0.386792 0.218025 NA 0.326 NA 9.1469414 745 12 4853806 4853806 A G exonic GALNT8 NA nonsynonymous SNV GALNT8:NM_017417:exon4:c.A800G:p.E267G exonic ENSG00000130035 NA nonsynonymous SNV ENSG00000130035:ENST00000252318:exon4:c.A800G:p.E267G Score=349;Name=lod=35 NA 12p13.32 NA NA NA NA rs34776842 0.12 0.12 0.039 0.0195687 0.0626 NA 0.0375 0.0008 0.0082 0.14 0.15 0.13 0.05 0.05 0.15 . . 0.034 B 0.037 B 0.123 N 0.986 N 1.505 L -0.02 T -1.147 T 0.001 T 0.197 2.109 13.01 2.0 0.224 0.521 9.513 2.109331 2.109331 0.01 0.07407 0.013618 NA 0.036 NA 9.1466634 745 4 38023302 38023302 C G exonic TBC1D1 NA synonymous SNV TBC1D1:NM_001253912:exon6:c.C1173G:p.P391P,TBC1D1:NM_015173:exon6:c.C1173G:p.P391P exonic ENSG00000065882 NA synonymous SNV ENSG00000065882:ENST00000446803:exon5:c.C786G:p.P262P,ENSG00000065882:ENST00000261439:exon6:c.C1173G:p.P391P,ENSG00000065882:ENST00000508802:exon6:c.C1173G:p.P391P NA NA 4p14 NA NA NA NA rs34119528 0.2 0.2 0.178 0.185503 0.1521 0.3978 0.1686 0.0061 0.2556 0.16 0.45 0.15 0.0041 0.216 0.45 0 D . . . . 0.000 D 0.000 P . . . . -0.951 T 0.000 T . -0.067 3.672 -2.5 -0.522 -0.065 7.004 -0.06728 NA NA 0.153372 0.028143 NA 0.196 NA 9.1451946 746 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 746 2 85843431 85843431 C T exonic USP39 NA nonsynonymous SNV USP39:NM_001256725:exon1:c.C113T:p.P38L,USP39:NM_001256726:exon1:c.C113T:p.P38L,USP39:NM_006590:exon1:c.C113T:p.P38L exonic ENSG00000168883 NA nonsynonymous SNV ENSG00000168883:ENST00000323701:exon1:c.C113T:p.P38L,ENSG00000168883:ENST00000409025:exon1:c.C113T:p.P38L,ENSG00000168883:ENST00000409470:exon1:c.C113T:p.P38L,ENSG00000168883:ENST00000409766:exon1:c.C113T:p.P38L,ENSG00000168883:ENST00000458268:exon1:c.C113T:p.P38L NA NA 2p11.2 NA Name=GATA-1,HEY1,ETS1,Pol2-4H8,GABP,HMGN3,TAF1,NFKB,E2F6,POU2F2,E2F6_(H-50),Ini1,TAF7_(SQ-8),CHD2_(N-1250),HA-E2F1,Pol2,YY1,BRCA1_(C-1863),ZBTB7A_(SC-34508),Pol2(b),CCNT2,TBP,AP-2gamma,NRSF,THAP1_(SC-98174),Sin3Ak-20,E2F4,Oct-2,ZBTB33,YY1_(C-20) NA NA rs114838872 0.03 0.03 0.035 0.0261581 0.0577 NA 0.0375 0.0045 0.0419 0.06 NA 0.05 0.01 0.0765 0.06 0.24 T 0.005 B 0.025 B 0.261 N 1.000 N 0.895 L 2.56 T -1.008 T 0.004 T 0.063 1.71 11.68 3.25 0.696 0.401 6.98 1.710283 1.710283 0 0.05603 0.007963 NA 0.029 NA 9.1431034 746 19 14000170 14000170 T C exonic C19orf57 NA nonsynonymous SNV C19orf57:NM_024323:exon6:c.A1499G:p.Q500R exonic ENSG00000132016 NA nonsynonymous SNV ENSG00000132016:ENST00000591439:exon1:c.A80G:p.Q27R,ENSG00000132016:ENST00000586783:exon5:c.A1499G:p.Q500R,ENSG00000132016:ENST00000346736:exon6:c.A1499G:p.Q500R,ENSG00000132016:ENST00000454313:exon6:c.A1499G:p.Q500R NA NA 19p13.12 NA NA NA NA rs3803892 0.36 0.36 0.35 0.390775 0.2117 0.3085 0.2349 0.73 0.3119 0.21 0.34 0.23 0.69 0.2655 0.69 0.36 T 0.578 P 0.266 B 0.659 N 1.000 P 0.895 L 0.98 T -0.960 T 0.000 T 0.018 1.147 9.672 -5.51 -0.943 -1.678 1.950 1.146965 NA 0.09 0.21407 0.65547 NA 0.377 NA 9.1420634 746 14 39818028 39818028 A G exonic CTAGE5 NA nonsynonymous SNV CTAGE5:NM_001247988:exon22:c.A1879G:p.I627V,CTAGE5:NM_203355:exon22:c.A1966G:p.I656V,CTAGE5:NM_001247989:exon23:c.A2110G:p.I704V,CTAGE5:NM_001247990:exon23:c.A1870G:p.I624V,CTAGE5:NM_005930:exon23:c.A2095G:p.I699V,CTAGE5:NM_203354:exon23:c.A2059G:p.I687V,CTAGE5:NM_203356:exon23:c.A2008G:p.I670V exonic ENSG00000150527,ENSG00000258941 NA nonsynonymous SNV ENSG00000150527:ENST00000348007:exon22:c.A1966G:p.I656V,ENSG00000150527:ENST00000553352:exon22:c.A2008G:p.I670V,ENSG00000150527:ENST00000557038:exon22:c.A1855G:p.I619V,ENSG00000150527:ENST00000280083:exon23:c.A2095G:p.I699V,ENSG00000150527:ENST00000341502:exon23:c.A2095G:p.I699V,ENSG00000150527:ENST00000341749:exon23:c.A2059G:p.I687V,ENSG00000150527:ENST00000396158:exon23:c.A2110G:p.I704V,ENSG00000150527:ENST00000396165:exon23:c.A2008G:p.I670V,ENSG00000150527:ENST00000556148:exon23:c.A1870G:p.I624V,ENSG00000258941:ENST00000603904:exon23:c.A2008G:p.I670V,ENSG00000258941:ENST00000553728:exon27:c.A3700G:p.I1234V NA NA 14q21.1 NA Name=NFKB NA NA rs1140952 0.43 0.43 0.397 0.384585 0.4115 0.5923 0.3415 0.2519 0.3528 0.41 0.63 0.38 0.27 0.3871 0.63 . . 0.001 B 0.004 B 0.723 N 1.000 P 0.29 N 3.83 T -0.991 T 0.000 T 0.038 -2.298 0.004 -2.01 -0.792 -1.436 8.109 -2.297832 NA 0.8 0.394767 0.266228 ID=COSM1562643;OCCURENCE=1(large_intestine) 0.37 NA 9.1399664 746 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 746 9 134183379 134183379 C T exonic PPAPDC3 NA nonsynonymous SNV PPAPDC3:NM_032728:exon2:c.C521T:p.T174M exonic ENSG00000160539 NA nonsynonymous SNV ENSG00000160539:ENST00000372264:exon2:c.C521T:p.T174M Score=409;Name=lod=61 NA 9q34.13 NA NA NA NA rs2966332 0.65 0.65 0.622 0.623403 0.7416 0.7252 0.6499 0.4047 0.6738 0.73 0.72 0.67 0.42 0.6985 0.75 0.27 T 0.001 B 0.002 B 0.001 N 0.000 P -0.475 N -0.9 T -0.923 T 0.000 T 0.051 1.216 9.934 3.5 2.296 3.020 3.845 1.215704 NA 0.09 0.753488 0.465502 NA 0.616 NA 9.1397454 746 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 746 10 96602623 96602623 G A exonic CYP2C19 NA nonsynonymous SNV CYP2C19:NM_000769:exon7:c.G991A:p.V331I exonic ENSG00000165841 NA nonsynonymous SNV ENSG00000165841:ENST00000371321:exon7:c.G991A:p.V331I NA NA 10q23.33 NA NA NA NA rs3758581 0.04 0.04 0.037 0.0485224 0.0686 0.0397 0.0346 0.0023 0.1094 0.06 0.05 0.06 0.01 0.0624 0.065 1 T 0.011 B 0.007 B 0.003 N 1.000 N -0.425 N -0.27 T -1.083 T 0.010 T 0.083 -2.91 0.001 -6.74 -2.390 -0.659 13.137 -2.909958 NA 1 0.064535 0.013618 NA 0.022 NA 9.1377984 746 3 151171439 151171439 A C exonic IGSF10 NA nonsynonymous SNV IGSF10:NM_178822:exon3:c.T448G:p.Y150D exonic ENSG00000152580 NA nonsynonymous SNV ENSG00000152580:ENST00000282466:exon3:c.T448G:p.Y150D Score=410;Name=lod=62 NA 3q25.1 NA NA NA NA rs7619322 0.74 0.74 0.73 0.727835 0.7435 0.745 0.7075 0.6891 0.7607 0.75 0.75 0.7 0.73 0.7239 0.75 0.27 T 0.938 P 0.768 P 0.482 N 0.193 P -0.46 N 0.7 T -0.915 T 0.000 T 0.309 2.936 15.79 -2.47 -0.442 2.414 0.667 2.936281 2.936281 0.21 0.72814 0.687926 NA 0.601 NA 9.1377934 746 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 747 11 125547869 125547869 C T exonic ACRV1 NA nonsynonymous SNV ACRV1:NM_001612:exon2:c.G376A:p.G126R,ACRV1:NM_020069:exon2:c.G376A:p.G126R,ACRV1:NM_020107:exon3:c.G211A:p.G71R,ACRV1:NM_020108:exon3:c.G166A:p.G56R exonic ENSG00000134940 NA nonsynonymous SNV ENSG00000134940:ENST00000315608:exon2:c.G376A:p.G126R,ENSG00000134940:ENST00000433875:exon2:c.G376A:p.G126R,ENSG00000134940:ENST00000533904:exon2:c.G376A:p.G126R,ENSG00000134940:ENST00000257382:exon3:c.G211A:p.G71R,ENSG00000134940:ENST00000345274:exon3:c.G166A:p.G56R,ENSG00000134940:ENST00000426183:exon3:c.G166A:p.G56R,ENSG00000134940:ENST00000453509:exon3:c.G166A:p.G56R,ENSG00000134940:ENST00000527795:exon3:c.G166A:p.G56R,ENSG00000134940:ENST00000530048:exon3:c.G211A:p.G71R NA NA 11q24.2 NA NA NA NA rs34788353 0.06 0.06 0.056 0.0623003 0.0706 0.002 0.0476 0.1286 0.0368 0.07 NA 0.05 0.14 0.0615 0.14 0.12 T 0.995 D 0.944 D 0.182 N 0.999 P 1.385 L 2.12 T -1.050 T 0.002 T 0.145 1.226 9.975 -0.493 0.006 -0.479 8.327 1.226415 NA 0 0.066643 0.113585 NA 0.08 NA 9.1345904 747 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 747 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 747 2 160673519 160673519 G A exonic LY75,LY75-CD302 NA nonsynonymous SNV LY75-CD302:NM_001198759:exon30:c.C4178T:p.T1393I,LY75-CD302:NM_001198760:exon30:c.C4178T:p.T1393I,LY75:NM_002349:exon30:c.C4178T:p.T1393I exonic ENSG00000054219,ENSG00000248672 NA nonsynonymous SNV ENSG00000054219:ENST00000263636:exon30:c.C4178T:p.T1393I,ENSG00000248672:ENST00000504764:exon30:c.C4178T:p.T1393I,ENSG00000248672:ENST00000505052:exon30:c.C4178T:p.T1393I,ENSG00000054219:ENST00000553424:exon30:c.C4178T:p.T1393I,ENSG00000054219:ENST00000554112:exon30:c.C4178T:p.T1393I Score=457;Name=lod=96 NA 2q24.2 NA NA NA NA rs35941588 0.04 0.04 0.037 0.0351438 0.0736 0.0248 0.0447 0.003 0.0429 0.08 0.03 0.04 0.0041 0.0595 0.08 0.18 T 0.435 B 0.15 B 0.438 N 1.000 N 1.39 L 2.28 T -0.999 T 0.003 T 0.275 1.641 11.44 1.44 0.789 1.327 10.426 1.640691 1.640691 0.18 0.070233 0.012256 NA 0.022 NA 9.1300004 747 11 87908448 87908448 A G exonic RAB38 NA synonymous SNV RAB38:NM_022337:exon1:c.T105C:p.S35S exonic ENSG00000123892 NA synonymous SNV ENSG00000123892:ENST00000243662:exon1:c.T105C:p.S35S Score=706;Name=lod=988 NA 11q14.2 NA Name=Pol2,TAF1,ZNF263 Name=68 NA rs302646 0.75 0.75 0.757 0.745607 0.8718 0.6012 0.7752 0.7965 0.6748 0.87 0.57 0.79 0.76 0.8023 0.87 . . . . . . . . 0.000 P . . -0.63 T -1.005 T 0.000 T . 1.773 11.89 2.16 0.048 1.058 7.172 1.773367 1.773367 NA 0.862875 0.797365 NA 0.812 NA 9.1296916 747 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$PPARG_03 Name=Pol2-4H8 NA NA rs1019747 0.51 0.51 0.485 0.494409 0.3857 0.5 0.5951 0.6248 0.3528 0.4 0.53 0.54 0.63 0.4375 0.63 0.15 T 0.0 B 0.004 B 0.010 N 0.999 P -0.55 N 3.44 T -1.024 T 0.000 T 0.03 1.879 12.24 0.125 -0.120 0.309 2.485 1.878622 1.878622 0.21 0.38138 0.569154 NA 0.558 NA 9.1287534 747 17 33464864 33464864 C T exonic NLE1 NA nonsynonymous SNV NLE1:NM_018096:exon5:c.G506A:p.R169K exonic ENSG00000073536 NA nonsynonymous SNV ENSG00000073536:ENST00000442241:exon5:c.G506A:p.R169K Score=620;Name=lod=441 NA 17q12 Score=884;Name=V$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 747 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 747 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$EVI1_02 NA NA NA rs3800962 0.3 0.3 0.283 0.264776 0.4165 0.1548 0.3977 0.1974 0.2188 0.43 0.16 0.43 0.17 0.3658 0.43 1 T 0.0 B 0.001 B . . . . 0.31 N -0.61 T -1.022 T 0.000 T 0.023 -0.832 0.593 -2.11 -0.531 0.374 7.610 -0.832338 NA 1 0.423372 0.227851 NA 0.384 NA 9.1276614 747 19 8669931 8669931 G C exonic ADAMTS10 NA nonsynonymous SNV ADAMTS10:NM_030957:exon4:c.C401G:p.T134S exonic ENSG00000142303 NA nonsynonymous SNV ENSG00000142303:ENST00000593913:exon2:c.C401G:p.T134S,ENSG00000142303:ENST00000270328:exon3:c.C401G:p.T134S,ENSG00000142303:ENST00000596851:exon3:c.C401G:p.T134S,ENSG00000142303:ENST00000597188:exon4:c.C401G:p.T134S Score=553;Name=lod=236 NA 19p13.2 NA NA NA NA rs7255721 0.85 0.85 0.843 0.89397 0.7048 0.9702 0.8516 0.9766 0.9284 0.71 0.97 0.82 0.97 0.7994 0.97 1 T 0.0 B 0.002 B 0.000 N 1.000 P -1.455 N 0.36 T -0.952 T 0.000 T 0.099 -0.018 3.922 5.24 1.228 0.951 10.455 -0.017841 NA 1 0.70242 0.937126 NA 0.768 NA 9.1267134 747 21 46086757 46086757 G A exonic KRTAP12-2 NA nonsynonymous SNV KRTAP12-2:NM_181684:exon1:c.C47T:p.A16V exonic ENSG00000221864 NA nonsynonymous SNV ENSG00000221864:ENST00000360770:exon1:c.C47T:p.A16V NA NA 21q22.3 NA Name=c-Myc,HA-E2F1 Name=3 NA rs7275298 0.68 0.68 0.705 0.771565 0.7634 0.6597 0.7493 0.8608 0.7904 0.68 0.59 0.71 0.78 0.739 0.84 0.31 T 0.002 B 0.003 B . . 1.000 P -1.17 N 4.06 T -1.071 T 0.000 T 0.04 1.02 9.164 -4.35 -1.420 -0.534 6.439 1.019523 NA NA 0.705626 0.841207 NA NA NA 9.1253074 748 5 33954511 33954511 T C exonic SLC45A2 NA synonymous SNV SLC45A2:NM_001012509:exon4:c.A987G:p.T329T,SLC45A2:NM_016180:exon4:c.A987G:p.T329T exonic ENSG00000164175 NA nonsynonymous SNV ENSG00000164175:ENST00000509381:exon3:c.A661G:p.S221G NA NA 5p13.2 Score=840;Name=V$ELK1_01 NA NA NA rs2287949 0.9 0.9 0.874 0.833067 0.9891 0.8214 0.9035 0.8752 0.5777 0.99 0.81 0.91 0.85 0.8968 0.99 0.04 D 0.0 B 0.0 B . . 0.000 P . . . . -0.937 T 0.000 T . 1.385 10.56 -9.46 -1.291 -2.415 0.877 1.384789 1.384789 NA 0.990233 0.898774 NA 0.899 NA 9.123867 748 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 748 16 11873158 11873158 T C exonic ZC3H7A NA nonsynonymous SNV ZC3H7A:NM_014153:exon4:c.A170G:p.H57R exonic ENSG00000122299 NA nonsynonymous SNV ENSG00000122299:ENST00000396516:exon3:c.A170G:p.H57R,ENSG00000122299:ENST00000355758:exon4:c.A170G:p.H57R,ENSG00000122299:ENST00000571198:exon4:c.A170G:p.H57R,ENSG00000122299:ENST00000572870:exon4:c.A170G:p.H57R,ENSG00000122299:ENST00000576018:exon4:c.A170G:p.H57R,ENSG00000122299:ENST00000572781:exon5:c.A170G:p.H57R,ENSG00000122299:ENST00000574995:exon5:c.A170G:p.H57R Score=563;Name=lod=260 NA 16p13.13 NA Name=MafK_(ab50322),MafF_(M8194) NA NA rs16958654 0.06 0.06 0.044 0.0577077 0.0835 NA 0.0634 0.0946 0.0368 0.08 NA 0.07 0.08 0.0597 0.11 0.55 T 0.0 B 0.0 B 0.007 N 0.000 P -0.59 N -0.72 T -1.090 T 0.004 T 0.309 1.64 11.44 1.53 -0.130 0.446 8.921 1.639891 1.639891 0.21 0.067326 0.103597 NA 0.072 NA 9.1228074 748 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 748 4 147824864 147824864 G A exonic TTC29 NA nonsynonymous SNV TTC29:NM_031956:exon6:c.C418T:p.H140Y exonic ENSG00000137473 NA nonsynonymous SNV ENSG00000137473:ENST00000398886:exon5:c.C496T:p.H166Y,ENSG00000137473:ENST00000325106:exon6:c.C418T:p.H140Y,ENSG00000137473:ENST00000504425:exon6:c.C418T:p.H140Y,ENSG00000137473:ENST00000508306:exon6:c.C418T:p.H140Y,ENSG00000137473:ENST00000513335:exon7:c.C496T:p.H166Y NA NA 4q31.22 NA NA NA NA rs17610219 0.49 0.49 0.483 0.548123 0.3598 0.5526 0.5908 0.6581 0.5583 0.34 0.55 0.51 0.64 0.4819 0.64 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.395 N 2.41 T -0.940 T 0.000 T 0.104 -1.746 0.01 5.62 0.967 4.637 10.429 -1.746363 NA 1 0.370583 0.580444 NA 0.529 NA 9.1210504 748 20 30452782 30452782 C T exonic DUSP15 NA synonymous SNV DUSP15:NM_080611:exon4:c.G162A:p.P54P exonic ENSG00000149599 NA nonsynonymous SNV ENSG00000149599:ENST00000428829:exon3:c.G128A:p.R43Q Score=542;Name=lod=213 NA 20q11.21 NA NA NA NA rs4911536 0.28 0.28 0.256 0.284944 0.2773 0.372 0.3069 0.149 0.3712 0.27 0.38 0.3 0.16 0.3123 0.38 0 D . . . . . . 0.000 P . . . . -0.954 T 0.000 T . 2.181 13.25 -4.79 -0.849 -0.642 0.406 2.18057 2.18057 NA 0.289651 0.184521 ID=COSM149157;OCCURENCE=1(stomach) 0.304 NA 9.120749 748 22 38474696 38474696 A G exonic SLC16A8 NA nonsynonymous SNV SLC16A8:NM_013356:exon5:c.T1214C:p.V405A exonic ENSG00000100156 NA nonsynonymous SNV ENSG00000100156:ENST00000320521:exon5:c.T1214C:p.V405A Score=458;Name=lod=97 NA 22q13.1 NA Name=ZNF263 NA NA rs2076371 0.83 0.83 0.841 0.810703 0.7386 0.9058 0.7176 0.9743 0.6319 0.75 0.9 0.69 0.98 0.7554 0.98 1 T 0.0 B 0.001 B 0.027 N 1.000 P -0.865 N 0.98 T -0.947 T 0.000 T 0.03 -0.883 0.474 3.88 0.608 2.016 9.66 -0.883118 NA 0.95 0.718837 0.944621 NA 0.754 NA 9.1204964 748 6 146126419 146126419 C T exonic FBXO30 NA nonsynonymous SNV FBXO30:NM_032145:exon2:c.G1123A:p.V375M exonic ENSG00000118496 NA nonsynonymous SNV ENSG00000118496:ENST00000237281:exon2:c.G1123A:p.V375M Score=405;Name=lod=59 NA 6q24.3 NA NA NA NA rs9373475 0.31 0.31 0.335 0.329273 0.4105 0.2341 0.232 0.2549 0.5133 0.41 0.26 0.25 0.25 0.3898 0.41 0.05 D 0.043 B 0.007 B 0.000 N 1.000 P 0 N 2.19 T -0.986 T 0.007 T 0.031 0.03 4.167 -3.18 -0.720 -0.321 2.770 0.029502 NA 0.07 0.41314 0.253518 NA 0.304 NA 9.1198934 748 22 36587511 36587511 C T exonic APOL4 NA unknown UNKNOWN exonic ENSG00000100336 NA nonsynonymous SNV ENSG00000100336:ENST00000352371:exon6:c.G665A:p.R222H,ENSG00000100336:ENST00000332987:exon7:c.G656A:p.R219H NA NA 22q12.3 NA NA Name=62 NA rs2227168 0.63 0.63 0.634 0.653155 0.497 0.8442 0.5346 0.7337 0.592 0.47 0.84 0.56 0.7 0.5491 0.84 0.4 T 0.002 B 0.002 B 0.017 N 1.000 P 0.35 N 3.96 T -1.026 T 0.000 T . 0.26 5.405 -4.03 -1.371 -3.431 0.722 0.259988 NA 0.24 0.501395 0.671292 NA 0.601 NA 9.1191717 748 10 30316072 30316072 C G exonic KIAA1462 NA nonsynonymous SNV KIAA1462:NM_020848:exon3:c.G3005C:p.S1002T exonic ENSG00000165757 NA nonsynonymous SNV ENSG00000165757:ENST00000375377:exon3:c.G3005C:p.S1002T NA Name=Coronary heart disease 10p11.23 NA Name=CTCF Name=65 NA rs3739998 0.29 0.29 0.268 0.251797 0.4215 0.1825 0.4524 0.0598 0.2658 0.43 0.2 0.42 0.09 0.3692 0.43 0.63 T 0.058 B 0.025 B 0.198 N 1.000 P 1.79 L 2.71 T -0.914 T 0.000 T 0.029 0.932 8.798 -0.722 0.190 0.151 0.969 0.932209 NA 0.41 0.424606 0.119285 NA 0.341 NA 9.1180274 748 2 20240668 20240668 C A exonic LAPTM4A NA synonymous SNV LAPTM4A:NM_014713:exon2:c.G216T:p.S72S exonic ENSG00000068697 NA synonymous SNV ENSG00000068697:ENST00000175091:exon2:c.G216T:p.S72S Score=599;Name=lod=362 NA 2p24.1 Score=807;Name=V$CART1_01 Name=STAT3,MafF_(M8194),p300_(N-15),JunD,MafK_(SC-477),c-Fos,MafK_(ab50322),GATA-2,FOSL2,c-Jun Name=83 NA rs3731673 0.17 0.17 0.146 0.16893 0.174 0.3056 0.1988 0.0136 0.2117 0.19 0.26 0.18 0.03 0.1894 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.245876 1.245876 NA 0.186163 0.049705 NA 0.072 NA 9.1171036 748 11 5444061 5444061 G A exonic OR51Q1 NA nonsynonymous SNV OR51Q1:NM_001004757:exon1:c.G631A:p.V211M exonic ENSG00000167360 NA nonsynonymous SNV ENSG00000167360:ENST00000300778:exon1:c.G631A:p.V211M NA NA 11p15.4 NA NA NA NA rs2736586 0.44 0.44 0.427 0.453674 0.3986 0.7024 0.3991 0.2799 0.5276 0.37 0.69 0.41 0.28 0.4254 0.69 0.22 T 0.002 B 0.003 B 0.646 N 0.000 P 0.365 N 1.04 T -0.948 T 0.000 T 0.042 -0.684 1.024 -6.36 -1.154 -3.921 2.308 -0.684014 NA 0.41 0.392483 0.30259 NA 0.319 NA 9.1168504 748 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 748 14 31790886 31790886 T G exonic HEATR5A NA nonsynonymous SNV HEATR5A:NM_015473:exon25:c.A3788C:p.N1263T exonic ENSG00000129493 NA nonsynonymous SNV ENSG00000129493:ENST00000439727:exon19:c.A2909C:p.N970T,ENSG00000129493:ENST00000389961:exon24:c.A3770C:p.N1257T,ENSG00000129493:ENST00000439348:exon24:c.A3770C:p.N1257T,ENSG00000129493:ENST00000543095:exon25:c.A3788C:p.N1263T Score=672;Name=lod=715 NA 14q12 NA NA NA NA rs28396248 0.09 0.09 0.09 0.0908546 0.0467 0.1488 0.085 0.1188 0.0429 0.05 0.14 0.1 0.1 0.1035 0.14 0.52 T 0.037 B 0.087 B 0.035 N 0.000 P 0.63 N 0.85 T -1.049 T 0.001 T 0.143 -0.523 1.616 2.8 0.308 0.862 6.685 -0.522746 NA 0.45 0.067287 0.121548 ID=COSM147762;OCCURENCE=1(stomach) 0.065 NA 9.1158464 748 11 8938934 8938934 C T intronic AKIP1 NA NA NA exonic ENSG00000166452 NA nonsynonymous SNV ENSG00000166452:ENST00000529876:exon3:c.C428T:p.T143M,ENSG00000166452:ENST00000525005:exon4:c.C509T:p.T170M,ENSG00000166452:ENST00000534506:exon4:c.C428T:p.T143M,ENSG00000166452:ENST00000524577:exon5:c.C509T:p.T170M NA NA 11p15.4 NA NA Name=31 NA rs2016844 0.25 0.25 0.234 0.267173 0.3539 0.2143 0.2507 0.1067 0.4611 0.36 0.16 0.31 0.14 0.343 0.36 . . 0.01 B 0.004 B . . 1.000 P . . 1.4 T -0.930 T 0.000 T 0.091 0.197 5.063 -5.68 -1.281 -1.558 7.779 0.197328 NA 0.47 0.354516 0.133121 NA 0.261 NA 9.1152507 749 22 36587223 36587223 G T exonic APOL4 NA unknown UNKNOWN exonic ENSG00000100336 NA nonsynonymous SNV ENSG00000100336:ENST00000352371:exon6:c.C953A:p.A318E,ENSG00000100336:ENST00000332987:exon7:c.C944A:p.A315E NA NA 22q12.3 NA NA NA NA rs6000173 0.62 0.62 0.617 0.647165 0.496 0.8244 0.5317 0.7307 0.589 0.46 0.81 0.56 0.7 0.555 0.81 0.12 T 0.996 D 0.977 D 0.196 N 1.000 P 2.275 M 3.56 T -1.049 T 0.000 T . 1.868 12.2 1.17 0.492 1.560 4.685 1.868063 1.868063 0.12 0.501306 0.670113 NA 0.543 NA 9.1143607 749 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 749 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 749 5 13902220 13902220 T C exonic DNAH5 NA nonsynonymous SNV DNAH5:NM_001369:exon13:c.A1672G:p.T558A exonic ENSG00000039139 NA nonsynonymous SNV ENSG00000039139:ENST00000265104:exon13:c.A1672G:p.T558A Score=493;Name=lod=135 NA 5p15.2 NA NA NA NA rs1530498 0.46 0.46 0.439 0.388379 0.3996 0.7579 0.4251 0.1483 0.2945 0.42 0.77 0.44 0.15 0.4186 0.77 0.9 T 0.002 B 0.016 B 0.000 N 0.000 P 1.825 L 0.67 T -0.934 T 0.000 T 0.173 0.225 5.215 2.56 0.338 1.739 8.861 0.225193 NA 0.4 0.405522 0.188692 NA 0.341 NA 9.1096114 749 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=CTCF_(C-20),CTCF_(SC-5916),USF-1,GATA-2,CTCF,E2F6_(H-50),Rad21,c-Myc 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 749 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 749 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=SETDB1,ZNF274,KAP1 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 749 3 108690221 108690221 G A exonic MORC1 NA nonsynonymous SNV MORC1:NM_014429:exon25:c.C2506T:p.H836Y exonic ENSG00000114487 NA nonsynonymous SNV ENSG00000114487:ENST00000483760:exon24:c.C2443T:p.H815Y,ENSG00000114487:ENST00000232603:exon25:c.C2506T:p.H836Y Score=401;Name=lod=57 NA 3q13.13 NA NA NA NA rs2593943 0.33 0.33 0.357 0.337061 0.4314 0.1071 0.2824 0.4342 0.3845 0.44 0.08 0.34 0.45 0.3725 0.45 1 T 0.0 B 0.0 B 0.685 N 1.000 P -0.895 N 3.54 T -0.926 T 0.000 T 0.033 -0.879 0.482 2.2 0.055 1.068 4.125 -0.879434 NA 0.93 0.421512 0.450976 NA 0.384 NA 9.1079214 749 1 26520292 26520292 G T exonic CATSPER4 NA nonsynonymous SNV CATSPER4:NM_198137:exon3:c.G372T:p.L124F exonic ENSG00000188782 NA nonsynonymous SNV ENSG00000188782:ENST00000338855:exon3:c.G372T:p.L124F,ENSG00000188782:ENST00000456354:exon3:c.G372T:p.L124F,ENSG00000188782:ENST00000518899:exon3:c.G372T:p.L124F Score=567;Name=lod=270 NA 1p36.11 NA NA NA NA rs12138368 0.03 0.03 0.023 0.0233626 0.0835 NA 0.036 0.0023 0.0051 0.07 NA 0.05 0.002 0.0539 0.089 0.1 T 0.005 B 0.007 B 0.023 N 0.992 N 0.75 N -4.45 D -0.465 T 0.103 T 0.213 1.453 10.8 -1.38 -0.205 -0.030 4.688 1.452939 1.452939 0.07 0.088721 0.014526 NA 0.014 NA 9.1072124 749 5 72427404 72427404 C G exonic TMEM171 NA nonsynonymous SNV TMEM171:NM_001161342:exon4:c.C819G:p.D273E,TMEM171:NM_173490:exon4:c.C822G:p.D274E exonic ENSG00000157111 NA nonsynonymous SNV ENSG00000157111:ENST00000287773:exon4:c.C819G:p.D273E,ENSG00000157111:ENST00000454765:exon4:c.C822G:p.D274E NA NA 5q13.2 NA NA NA NA rs61746311 0.03 0.03 0.02 0.0313498 0.0855 0.001 0.0288 0.0045 0.045 0.08 0.0017 0.03 0.0041 0.0649 0.08 0.48 T 0.002 B 0.004 B 0.487 N 1.000 N 1.87 L 1.79 T -1.082 T 0.003 T 0.033 0.689 7.679 -10.1 -4.094 -4.440 5.660 0.688559 NA 0.17 0.07593 0.01566 NA NA NA 9.1070034 749 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 749 5 149003627 149003627 C T exonic ARHGEF37 NA nonsynonymous SNV ARHGEF37:NM_001001669:exon10:c.C1388T:p.A463V exonic ENSG00000183111 NA nonsynonymous SNV ENSG00000183111:ENST00000333677:exon10:c.C1388T:p.A463V NA NA 5q32 Score=824;Name=V$GRE_C NA NA NA rs55915030 0.12 0.12 0.129 0.118211 0.0626 0.0833 0.049 0.2337 0.1043 0.07 0.1 0.06 0.25 0.0913 0.25 0.51 T 0.001 B 0.003 B 0.948 N 1.000 P 0.345 N 0.55 T -1.014 T 0.000 T 0.011 -0.756 0.8 2.48 0.260 0.124 7.725 -0.755596 NA 0.33 0.074025 0.184874 ID=COSM149984;OCCURENCE=1(stomach) 0.101 NA 9.1054084 750 12 52965173 52965173 T G exonic KRT74 NA nonsynonymous SNV KRT74:NM_175053:exon4:c.A813C:p.E271D exonic ENSG00000170484 NA nonsynonymous SNV ENSG00000170484:ENST00000305620:exon4:c.A813C:p.E271D,ENSG00000170484:ENST00000549343:exon4:c.A813C:p.E271D Score=540;Name=lod=209 NA 12q13.13 NA NA NA NA rs670741 0.78 0.78 0.803 0.807308 0.7336 0.7173 0.683 0.9887 0.819 0.74 0.71 0.69 0.98 0.7449 0.98 0.08 T 0.0 B 0.007 B 0.002 N 1.000 P 2.98 M -3.0 D -0.953 T 0.000 T 0.076 2.258 13.51 0.186 -0.023 -1.376 1.683 2.2582 2.2582 0.11 0.75 0.952338 NA 0.761 NA 9.1048334 750 22 45221423 45221423 A T exonic ARHGAP8,PRR5-ARHGAP8 NA synonymous SNV ARHGAP8:NM_001198726:exon7:c.A546T:p.P182P,ARHGAP8:NM_181335:exon7:c.A546T:p.P182P,ARHGAP8:NM_001017526:exon8:c.A639T:p.P213P,PRR5-ARHGAP8:NM_181334:exon10:c.A912T:p.P304P exonic ENSG00000241484,ENSG00000248405 NA synonymous SNV ENSG00000241484:ENST00000336963:exon7:c.A546T:p.P182P,ENSG00000241484:ENST00000356099:exon7:c.A546T:p.P182P,ENSG00000241484:ENST00000389774:exon8:c.A639T:p.P213P,ENSG00000248405:ENST00000361473:exon10:c.A939T:p.P313P,ENSG00000241484:ENST00000389773:exon10:c.A912T:p.P304P,ENSG00000248405:ENST00000352766:exon12:c.A1176T:p.P392P,ENSG00000241484:ENST00000517296:exon12:c.A1176T:p.P392P NA NA 22q13.31 NA NA NA NA rs3209476 0.12 0.12 0.13 0.146166 0.1948 0.0099 0.085 0.1914 0.2188 0.19 0.0017 0.08 0.19 0.1743 0.2 . . . . . . . . 0.630 P . . . . -1.036 T 0.000 T . 0.522 6.831 -8.78 -2.852 -6.362 1.066 0.522414 NA NA 0.195162 0.192098 NA 0.275 NA 9.1024046 750 1 156883546 156883546 A G exonic PEAR1 NA nonsynonymous SNV PEAR1:NM_001080471:exon21:c.A2707G:p.N903D exonic ENSG00000187800 NA nonsynonymous SNV ENSG00000187800:ENST00000292357:exon21:c.A2707G:p.N903D,ENSG00000187800:ENST00000338302:exon22:c.A2707G:p.N903D NA NA 1q23.1 NA Name=HMGN3 NA NA rs12137505 0.43 0.43 0.392 0.451078 0.3926 0.5913 0.5591 0.2557 0.5542 0.4 0.55 0.49 0.28 0.4337 0.55 0.36 T 0.094 B 0.016 B 0.933 N 1.000 P 0.345 N -2.37 D -0.991 T 0.201 T 0.029 0.731 7.885 -3.91 -0.553 0.203 6.234 0.731082 NA 0.87 0.405 0.257149 NA 0.355 NA 9.1020334 750 5 154203121 154203121 C T exonic FAXDC2 NA nonsynonymous SNV FAXDC2:NM_032385:exon6:c.G398A:p.R133H exonic ENSG00000170271 NA nonsynonymous SNV ENSG00000170271:ENST00000517938:exon5:c.G329A:p.R110H,ENSG00000170271:ENST00000326080:exon6:c.G398A:p.R133H,ENSG00000170271:ENST00000519501:exon6:c.G329A:p.R110H NA NA 5q33.2 NA Name=ZNF263 NA NA rs17641488 0.04 0.04 0.038 0.0341454 0.0716 0.0089 0.0476 0.0038 0.0532 0.08 0.01 0.05 0.01 0.0676 0.092 0.53 T 0.01 B 0.009 B 0.652 N 1.000 N 1.87 L 0.99 T -1.055 T 0.004 T 0.318 0.83 8.348 -0.743 -0.171 -1.086 0.508 0.830349 NA 0.54 0.092181 0.014042 NA 0.036 NA 9.1019524 750 2 160879259 160879259 C T exonic PLA2R1 NA nonsynonymous SNV PLA2R1:NM_001007267:exon7:c.G1211A:p.R404H,PLA2R1:NM_001195641:exon7:c.G1211A:p.R404H,PLA2R1:NM_007366:exon7:c.G1211A:p.R404H exonic ENSG00000153246 NA nonsynonymous SNV ENSG00000153246:ENST00000283243:exon7:c.G1211A:p.R404H,ENSG00000153246:ENST00000392771:exon7:c.G1211A:p.R404H Score=366;Name=lod=41 NA 2q24.2 NA NA NA NA rs33985939 0.04 0.04 0.037 0.0371406 0.0845 0.0179 0.0303 0.003 0.0593 0.09 0.02 0.03 0.0041 0.0674 0.09 0.26 T 0.0 B 0.001 B 0.650 N 1.000 N -0.06 N 2.22 T -0.973 T 0.001 T 0.033 -1.363 0.027 -3.66 -0.764 0.003 7.212 -1.363286 NA 0.8 0.08 0.013164 NA 0.022 NA 9.1014334 750 2 65217089 65217089 G C exonic SLC1A4 NA synonymous SNV SLC1A4:NM_003038:exon1:c.G312C:p.S104S exonic ENSG00000115902 NA synonymous SNV ENSG00000115902:ENST00000234256:exon1:c.G312C:p.S104S Score=712;Name=lod=1048 NA 2p14 Score=763;Name=V$MYOGNF1_01 Name=Sin3Ak-20,EBF1_(C-8) Name=18 NA rs7559202 0.19 0.19 0.192 0.175919 0.169 0.2401 0.1167 0.1778 0.1564 0.17 0.26 0.12 0.17 0.2578 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.831606 1.831606 NA 0.138733 0.163475 NA 0.145 NA 9.1011336 750 4 102816467 102816467 C G exonic BANK1 NA nonsynonymous SNV BANK1:NM_001127507:exon5:c.C510G:p.S170R,BANK1:NM_001083907:exon6:c.C819G:p.S273R,BANK1:NM_017935:exon6:c.C909G:p.S303R exonic ENSG00000153064 NA nonsynonymous SNV ENSG00000153064:ENST00000428908:exon5:c.C510G:p.S170R,ENSG00000153064:ENST00000508653:exon5:c.C510G:p.S170R,ENSG00000153064:ENST00000322953:exon6:c.C909G:p.S303R,ENSG00000153064:ENST00000444316:exon6:c.C819G:p.S273R,ENSG00000153064:ENST00000504592:exon10:c.C864G:p.S288R NA NA 4q24 NA NA NA NA rs62321738 0.11 0.11 0.078 0.107029 0.0805 0.1706 0.2349 0.0197 0.0961 0.07 0.18 0.18 0.03 0.0893 0.18 0.01 D 0.374 B 0.277 B 0.132 N 1.000 P 1.445 L 2.81 T -1.003 T 0.000 T 0.103 0.347 5.883 1.82 1.017 -0.228 10.262 0.347041 NA 0.02 0.062616 0.034725 ID=COSM329170;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.072 NA 9.1009174 750 2 68765205 68765205 C T exonic APLF NA nonsynonymous SNV APLF:NM_173545:exon7:c.C1006T:p.L336F exonic ENSG00000169621 NA nonsynonymous SNV ENSG00000169621:ENST00000303795:exon7:c.C1006T:p.L336F NA NA 2p13.3 NA NA Name=32 NA rs13404469 0.07 0.07 0.067 0.0788738 0.0726 0.005 0.0735 0.1483 0.0716 0.08 0.01 0.08 0.13 0.0792 0.14 0.33 T 0.0 B 0.0 B 0.434 N 1.000 P -1.7 N 1.88 T -0.998 T 0.000 T 0.013 -1.062 0.181 4.0 0.274 0.651 8.088 -1.061812 NA 0.38 0.080814 0.144576 NA 0.087 NA 9.1007194 750 9 113637854 113637854 G A exonic LPAR1 NA synonymous SNV LPAR1:NM_001401:exon4:c.C942T:p.R314R,LPAR1:NM_057159:exon5:c.C942T:p.R314R exonic ENSG00000198121 NA synonymous SNV ENSG00000198121:ENST00000538760:exon3:c.C945T:p.R315R,ENSG00000198121:ENST00000541779:exon3:c.C945T:p.R315R,ENSG00000198121:ENST00000358883:exon4:c.C942T:p.R314R,ENSG00000198121:ENST00000374430:exon5:c.C942T:p.R314R,ENSG00000198121:ENST00000374431:exon5:c.C942T:p.R314R NA NA 9q31.3 Score=771;Name=V$E2F_01 Name=YY1_(C-20),Rad21,NRSF,SMC3_(ab9263),CTCF,CTCF_(C-20),CTCF_(SC-5916),ELF1_(SC-631) Name=15 Score=147;Name=2463306_1_-_147 rs3739709 0.15 0.15 0.125 0.133786 0.1988 0.1905 0.1643 0.0113 0.1524 0.2 0.2 0.16 0.01 0.1749 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.628703 NA NA 0.192674 0.044939 ID=COSM1459297;OCCURENCE=1(large_intestine) 0.101 NA 9.1002926 750 11 123753958 123753958 C T exonic TMEM225 NA nonsynonymous SNV TMEM225:NM_001013743:exon4:c.G565A:p.E189K exonic ENSG00000204300 NA nonsynonymous SNV ENSG00000204300:ENST00000375026:exon4:c.G565A:p.E189K,ENSG00000204300:ENST00000528595:exon4:c.G415A:p.E139K NA NA 11q24.1 NA NA NA NA rs35551906 0.05 0.05 0.053 0.0407348 0.0964 0.0218 0.0432 0.0151 0.0358 0.09 0.02 0.04 0.02 0.0618 0.09 1 T 0.0 B 0.0 B 0.570 N 1.000 N -0.145 N 1.54 T -1.024 T 0.001 T 0.26 -0.962 0.32 -6.87 -2.821 -0.228 8.777 -0.962284 NA 0.82 0.075017 0.023615 NA 0.029 NA 9.1001164 750 9 111945049 111945049 T G exonic EPB41L4B NA nonsynonymous SNV EPB41L4B:NM_019114:exon24:c.A2447C:p.N816T exonic ENSG00000095203 NA nonsynonymous SNV ENSG00000095203:ENST00000374566:exon24:c.A2447C:p.N816T Score=502;Name=lod=146 NA 9q31.3 NA Name=TCF4 NA NA rs3750450 0.76 0.76 0.769 0.723842 0.7654 0.748 0.8271 0.7428 0.5573 0.75 0.76 0.81 0.73 0.726 0.81 0.58 T 0.0 B 0.001 B 0.034 N 0.000 P 0.755 N -1.75 D -0.951 T 0.000 T 0.016 1.494 10.94 1.11 -0.029 1.125 5.614 1.494259 1.494259 0.36 0.742777 0.765164 NA 0.761 NA 9.0991564 750 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 750 11 1272754 1272754 A G exonic MUC5B NA nonsynonymous SNV MUC5B:NM_002458:exon31:c.A14644G:p.T4882A exonic ENSG00000117983 NA nonsynonymous SNV ENSG00000117983:ENST00000447027:exon31:c.A14653G:p.T4885A,ENSG00000117983:ENST00000529681:exon31:c.A14644G:p.T4882A NA NA 11p15.5 NA NA NA NA rs3021156 0.07 0.07 0.056 0.0658946 0.0825 0.0496 0.111 0.0234 0.091 0.08 0.08 0.1 0.02 0.0809 0.1 0 D 0.369 B 0.075 B . . 1.000 P 0.895 L 2.27 T -1.023 T 0.001 T 0.075 0.544 6.943 -1.72 -0.234 -2.134 3.926 0.543758 NA NA 0.072069 0.018321 NA 0.087 NA 9.0978644 750 15 42302433 42302433 A G intronic PLA2G4E NA NA NA exonic ENSG00000188089 NA nonsynonymous SNV ENSG00000188089:ENST00000413860:exon1:c.T13C:p.C5R NA NA 15q15.1 NA NA NA NA rs9920802 0.38 0.38 0.285 0.417931 0.3618 0.3919 0.2421 0.4539 0.5787 0.37 0.38 0.24 0.49 0.3777 0.49 0.03 D 0.0 B 0.0 B . . 1.000 P . . 4.84 T -0.955 T 0.000 T 0.018 -0.696 0.985 -4.68 -1.647 -1.446 0.839 -0.695807 NA 0.78 0.329803 0.425916 NA 0.297 NA 9.0973637 750 19 51728641 51728641 A G exonic CD33 NA nonsynonymous SNV CD33:NM_001177608:exon2:c.A205G:p.R69G,CD33:NM_001772:exon2:c.A205G:p.R69G exonic ENSG00000105383 NA nonsynonymous SNV ENSG00000105383:ENST00000262262:exon2:c.A205G:p.R69G,ENSG00000105383:ENST00000391796:exon2:c.A205G:p.R69G NA NA 19q13.41 NA NA NA NA rs2455069 0.35 0.35 0.332 0.335064 0.4483 0.1042 0.2983 0.5318 0.2168 0.46 0.09 0.33 0.5 0.3577 0.5 0.34 T 0.001 B 0.009 B 0.001 N 1.000 P 1.1 L 0.9 T -0.976 T 0.000 T 0.035 0.243 5.312 -6.98 -1.842 -2.931 1.204 0.242838 NA 0.33 0.43 0.501589 ID=COSM148694;OCCURENCE=1(stomach) 0.478 NA 9.0973334 750 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 750 6 30071330 30071330 C T exonic TRIM31 NA nonsynonymous SNV TRIM31:NM_007028:exon9:c.G1261A:p.E421K exonic ENSG00000204616 NA nonsynonymous SNV ENSG00000204616:ENST00000376734:exon9:c.G1261A:p.E421K,ENSG00000204616:ENST00000540829:exon9:c.G1261A:p.E421K NA NA 6p22.1 NA NA Name=147 NA rs1116221 0.25 0.25 0.259 0.261981 0.2207 0.0992 0.2248 0.4115 0.2965 0.23 0.11 0.25 0.43 0.2552 0.43 0.74 T 0.753 P 0.097 B . . 1.000 P 0 N -0.45 T -1.081 T 0.032 T 0.078 1.057 9.318 1.05 0.371 0.968 5.560 1.057418 NA 0 0.260709 0.376159 NA 0.304 NA 9.0967244 750 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 751 11 870467 870467 C T exonic CHID1 NA nonsynonymous SNV CHID1:NM_001142677:exon10:c.G899A:p.R300Q,CHID1:NM_001142675:exon11:c.G992A:p.R331Q,CHID1:NM_023947:exon11:c.G992A:p.R331Q,CHID1:NM_001142674:exon12:c.G992A:p.R331Q,CHID1:NM_001142676:exon12:c.G1067A:p.R356Q exonic ENSG00000177830 NA nonsynonymous SNV ENSG00000177830:ENST00000532909:exon1:c.G20A:p.R7Q,ENSG00000177830:ENST00000429789:exon10:c.G899A:p.R300Q,ENSG00000177830:ENST00000323541:exon11:c.G1082A:p.R361Q,ENSG00000177830:ENST00000323578:exon11:c.G992A:p.R331Q,ENSG00000177830:ENST00000449825:exon11:c.G992A:p.R331Q,ENSG00000177830:ENST00000454838:exon11:c.G1067A:p.R356Q,ENSG00000177830:ENST00000436108:exon12:c.G992A:p.R331Q,ENSG00000177830:ENST00000528581:exon12:c.G1067A:p.R356Q,ENSG00000177830:ENST00000336845:exon13:c.G1067A:p.R356Q NA NA 11p15.5 Score=779;Name=V$AHR_01 Name=CTCF NA NA rs1127800 0.05 0.05 0.042 0.0295527 0.0934 NA 0.0476 0.0015 0.0194 0.1 NA 0.07 0.002 0.0587 0.1 0.53 T 0.188 B 0.013 B 0.001 N 1.000 N 1.735 L 0.96 T -1.087 T 0.002 T 0.413 1.252 10.08 0.875 0.250 0.211 5.408 1.251992 1.251992 0.12 0.086283 0.013624 NA 0.043 NA 9.0949504 751 6 54054686 54054686 T A exonic MLIP NA nonsynonymous SNV MLIP:NM_138569:exon9:c.T958A:p.S320T exonic ENSG00000146147 NA nonsynonymous SNV ENSG00000146147:ENST00000370876:exon4:c.T490A:p.S164T,ENSG00000146147:ENST00000509997:exon4:c.T520A:p.S174T,ENSG00000146147:ENST00000358276:exon5:c.T658A:p.S220T,ENSG00000146147:ENST00000370877:exon6:c.T646A:p.S216T,ENSG00000146147:ENST00000514433:exon6:c.T745A:p.S249T,ENSG00000146147:ENST00000447836:exon7:c.T460A:p.S154T,ENSG00000146147:ENST00000274897:exon9:c.T958A:p.S320T,ENSG00000146147:ENST00000502396:exon10:c.T2563A:p.S855T,ENSG00000146147:ENST00000514921:exon10:c.T2530A:p.S844T Score=385;Name=lod=49 NA 6p12.1 NA NA NA NA rs6934690 0.81 0.81 0.784 0.797324 0.9205 0.8115 0.8429 0.6104 0.8763 0.93 0.81 0.87 0.6 0.8795 0.94 0.23 T 0.982 D 0.831 P 0.019 N 1.000 P 1.43 L 1.08 T -1.028 T 0.089 T 0.485 2.176 13.23 4.29 2.088 0.789 8.096 2.175836 2.175836 0.31 0.939651 0.676123 NA 0.841 NA 9.0936824 751 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 751 15 41476209 41476209 T C exonic EXD1 NA nonsynonymous SNV EXD1:NM_152596:exon10:c.A1465G:p.T489A exonic ENSG00000178997 NA nonsynonymous SNV ENSG00000178997:ENST00000314992:exon10:c.A1465G:p.T489A,ENSG00000178997:ENST00000458580:exon12:c.A1639G:p.T547A NA NA 15q15.1 NA NA Name=30 NA rs522063 0.82 0.82 0.815 0.817692 0.7286 0.9861 0.8314 0.7776 0.7802 0.74 0.99 0.8 0.75 0.7814 0.99 1 T 0.0 B 0.001 B 0.729 N 1.000 P -0.975 N 1.35 T -0.981 T 0.000 T 0.023 -2.314 0.004 -8.2 -1.897 -2.271 5.333 -2.313693 NA 1 0.730698 0.761462 NA 0.804 NA 9.0926354 751 12 82752543 82752543 T G exonic METTL25 NA nonsynonymous SNV METTL25:NM_032230:exon1:c.T199G:p.S67A exonic ENSG00000127720 NA nonsynonymous SNV ENSG00000127720:ENST00000248306:exon1:c.T199G:p.S67A,ENSG00000127720:ENST00000548200:exon1:c.T199G:p.S67A NA NA 12q21.31 NA Name=PU.1,CCNT2,Egr-1,SMC3_(ab9263),ZNF263,c-Myc,Rad21,TAL1_(SC-12984),THAP1_(SC-98174),SETDB1,Pol2-4H8,CTCF_(SC-5916),CTCF_(C-20),Znf143_(16618-1-AP),NFKB,HEY1,KAP1,ELF1_(SC-631),HA-E2F1,Pol2,CTCF Name=148 NA rs112592060 0.04 0.04 0.044 0.0423323 0.0805 0.002 0.0591 0.0182 0.0654 0.07 0.0017 0.06 0.02 0.0668 0.094 0.8 T 0.0 B 0.0 B 0.504 N 1.000 N -0.55 N 1.56 T -1.031 T 0.001 T 0.017 -0.702 0.966 0.59 0.280 0.707 6.107 -0.701842 NA 0.93 0.094302 0.031775 NA 0.022 NA 9.0917314 751 11 46890165 46890165 C T exonic LRP4 NA nonsynonymous SNV LRP4:NM_002334:exon33:c.G4937A:p.R1646Q exonic ENSG00000134569 NA nonsynonymous SNV ENSG00000134569:ENST00000378623:exon33:c.G4937A:p.R1646Q Score=499;Name=lod=142 NA 11p11.2 NA NA NA NA rs3816614 0.58 0.58 0.599 0.579673 0.7863 0.3889 0.6484 0.3986 0.7597 0.77 0.42 0.63 0.43 0.6847 0.77 0.27 T 0.005 B 0.007 B 0.024 N 0.362 P 2.135 M -3.82 D -0.902 T 0.000 T 0.069 1.952 12.49 2.15 0.151 0.494 8.992 1.952445 1.952445 0.26 0.771575 0.442299 NA 0.667 NA 9.0907584 751 6 152694184 152694184 T C exonic SYNE1 NA synonymous SNV SYNE1:NM_033071:exon59:c.A9516G:p.E3172E,SYNE1:NM_182961:exon59:c.A9495G:p.E3165E exonic ENSG00000131018 NA synonymous SNV ENSG00000131018:ENST00000265368:exon59:c.A9495G:p.E3165E,ENSG00000131018:ENST00000367255:exon59:c.A9495G:p.E3165E,ENSG00000131018:ENST00000423061:exon59:c.A9516G:p.E3172E,ENSG00000131018:ENST00000448038:exon60:c.A9516G:p.E3172E,ENSG00000131018:ENST00000341594:exon62:c.A9612G:p.E3204E Score=466;Name=lod=104 NA 6q25.2 NA NA NA NA rs6913579 0.47 0.47 0.448 0.468251 0.5308 0.4613 0.536 0.4365 0.4059 0.52 0.41 0.51 0.41 0.4993 0.55 . . . . . . . . 0.000 P . . . . -1.013 T 0.106 T . 0.148 4.796 3.04 1.007 0.825 10.899 0.148083 NA NA 0.545814 0.495688 NA 0.529 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118493.2;CLNDSDB=.;CLNDSDBID=. 9.0907526 751 7 75051368 75051368 T C exonic POM121C NA nonsynonymous SNV POM121C:NM_001099415:exon13:c.A2167G:p.T723A exonic ENSG00000135213 NA nonsynonymous SNV ENSG00000135213:ENST00000257665:exon11:c.A2893G:p.T965A,ENSG00000135213:ENST00000453279:exon13:c.A2167G:p.T723A Score=329;Name=lod=29 NA 7q11.23 NA NA NA NA rs398003 0.13 0.13 0.082 0.128794 0.1262 0.1528 0.0836 0.1316 0.135 0.16 0.14 0.1 0.09 0.1164 0.16 1 T 0.0 B 0.0 B 0.301 N 0.941 P -1.5 N 3.92 T -0.951 T 0.000 T 0.059 -2.047 0.006 2.22 0.626 0.902 8.120 -2.046872 NA 1 NA NA NA NA NA 9.0907334 751 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 751 X 100490933 100490933 G C exonic DRP2 NA nonsynonymous SNV DRP2:NM_001939:exon4:c.G202C:p.V68L exonic ENSG00000102385 NA nonsynonymous SNV ENSG00000102385:ENST00000538510:exon2:c.G202C:p.V68L,ENSG00000102385:ENST00000372916:exon4:c.G202C:p.V68L,ENSG00000102385:ENST00000395209:exon4:c.G202C:p.V68L,ENSG00000102385:ENST00000402866:exon4:c.G202C:p.V68L Score=395;Name=lod=54 NA Xq22.1 NA NA NA NA rs7066252 0.12 0.12 0.13196 NA NA NA NA NA NA 0.13 0.07 0.13 0.15 0.112 0.15 0.04 D 0.0 B 0.0 B 0.869 N 0.000 P 1.1 L 3.43 T -0.923 T 0.000 T 0.043 1.966 12.53 -1.66 -0.651 -0.569 1.136 1.966418 1.966418 0.1 0.131094 0.138983 NA 0.116 NA 9.0902394 751 1 109273456 109273456 A G exonic FNDC7 NA synonymous SNV FNDC7:NM_001144937:exon9:c.A1785G:p.G595G exonic ENSG00000143107 NA synonymous SNV ENSG00000143107:ENST00000271311:exon8:c.A1788G:p.G596G,ENSG00000143107:ENST00000370017:exon9:c.A1785G:p.G595G Score=540;Name=lod=209 NA 1p13.3 Score=789;Name=V$YY1_02 NA Name=4 NA rs4970809 0.45 0.45 0.453 0.45028 0.5388 0.2014 0.4352 0.5628 0.4744 0.54 0.2 0.5 0.58 0.4934 0.58 . . . . . . . . 0.000 P . . . . -1.060 T 0.049 T . 1.296 10.24 2.38 0.146 0.884 4.962 1.295624 1.295624 NA 0.544884 0.561734 NA 0.471 NA 9.0895826 751 1 222713621 222713621 C T exonic HHIPL2 NA nonsynonymous SNV HHIPL2:NM_024746:exon4:c.G1181A:p.R394Q exonic ENSG00000143512 NA nonsynonymous SNV ENSG00000143512:ENST00000343410:exon4:c.G1181A:p.R394Q Score=355;Name=lod=37 NA 1q41 Score=815;Name=V$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 751 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 751 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 751 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$IK3_01 NA NA NA rs3745297 0.35 0.35 0.311 0.350839 0.4085 0.254 0.438 0.2769 0.4294 0.4 0.26 0.49 0.29 0.4053 0.49 0.24 T 0.037 B 0.023 B . . 1.000 P 2.25 M 3.29 T -0.982 T 0.000 T 0.115 1.295 10.24 0.693 0.069 1.643 6.294 1.295323 1.295323 0.21 0.432791 0.292329 NA 0.326 NA 9.0867424 751 6 167040463 167040463 A G exonic RPS6KA2 NA synonymous SNV RPS6KA2:NM_021135:exon1:c.T45C:p.S15S exonic ENSG00000071242 NA synonymous SNV ENSG00000071242:ENST00000265678:exon1:c.T45C:p.S15S Score=471;Name=lod=109 NA 6q27 Score=882;Name=V$AREB6_01 Name=FOXA1_(C-20),Nrf1 Name=18 NA rs10946179 0.18 0.18 0.128 0.174521 0.1889 0.2609 0.1369 0.1536 0.1258 0.19 0.2 0.16 0.14 0.2217 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.072305 2.072305 NA 0.169741 0.146871 ID=COSM1559738;OCCURENCE=1(central_nervous_system) 0.087 NA 9.0863256 751 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=IgA nephropathy,IgA levels,Non-albumin protein 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 751 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 752 17 18046898 18046898 T C exonic MYO15A NA nonsynonymous SNV MYO15A:NM_016239:exon25:c.T5929C:p.C1977R exonic ENSG00000091536 NA nonsynonymous SNV ENSG00000091536:ENST00000205890:exon26:c.T5929C:p.C1977R Score=445;Name=lod=86 NA 17p11.2 NA Name=CEBPB NA NA rs854777 0.75 0.75 0.757 0.718051 0.7386 0.619 0.7853 0.8896 0.5194 0.75 0.63 0.76 0.89 0.7395 0.89 0.77 T 0.0 B 0.0 B . . 0.000 P -1.24 N -2.16 D -0.959 T 0.000 T 0.018 -1.173 0.087 1.17 -0.033 -0.308 10.469 -1.173196 NA 0.36 0.770486 0.870562 NA 0.754 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038976.1;CLNDSDB=.;CLNDSDBID=. 9.0847474 752 1 67390416 67390416 G C exonic WDR78 NA nonsynonymous SNV WDR78:NM_024763:exon1:c.C99G:p.C33W,WDR78:NM_207014:exon1:c.C99G:p.C33W exonic ENSG00000152763 NA nonsynonymous SNV ENSG00000152763:ENST00000371022:exon1:c.C99G:p.C33W,ENSG00000152763:ENST00000371023:exon1:c.C99G:p.C33W,ENSG00000152763:ENST00000371026:exon1:c.C99G:p.C33W,ENSG00000152763:ENST00000531980:exon1:c.C87G:p.C29W,ENSG00000152763:ENST00000532629:exon1:c.C87G:p.C29W NA NA 1p31.3 NA Name=Sin3Ak-20,Mxi1_(bHLH),SREBP1,YY1_(C-20),Pol2,TBP,EBF,HMGN3 NA NA rs3008858 0.81 0.81 0.806 0.837859 0.7326 0.8829 0.8343 0.8449 0.8926 0.72 0.88 0.86 0.84 0.7845 0.88 0.33 T 0.0 B 0.0 B 0.038 N 1.000 P 0 N 1.94 T -1.105 T 0.028 T 0.081 0.248 5.337 -3.46 -1.103 -2.345 1.902 0.247501 NA 0 0.731977 0.839537 NA 0.804 NA 9.0842564 752 11 18738281 18738281 C T exonic IGSF22 NA nonsynonymous SNV IGSF22:NM_173588:exon10:c.G1240A:p.V414I exonic ENSG00000179057 NA nonsynonymous SNV ENSG00000179057:ENST00000319338:exon10:c.G1240A:p.V414I,ENSG00000179057:ENST00000513874:exon10:c.G1240A:p.V414I Score=426;Name=lod=72 NA 11p15.1 NA NA NA NA rs10766494 0.78 0.78 0.764 0.749002 0.7724 0.8125 0.7032 0.8298 0.5828 0.77 0.81 0.73 0.82 0.7349 0.82 0.19 T 0.0 B 0.001 B 0.047 N 1.000 P 2.485 M 0.0 T -1.007 T 0.000 T 0.05 0.638 7.426 3.75 0.237 1.514 7.752 0.63765 NA 0.8 0.742895 0.797753 NA 0.63 NA 9.0831384 752 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 752 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 752 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 752 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 752 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 752 14 35231108 35231108 A T exonic BAZ1A NA nonsynonymous SNV BAZ1A:NM_182648:exon23:c.T4002A:p.N1334K,BAZ1A:NM_013448:exon24:c.T4098A:p.N1366K exonic ENSG00000198604 NA nonsynonymous SNV ENSG00000198604:ENST00000358716:exon23:c.T4002A:p.N1334K,ENSG00000198604:ENST00000382422:exon23:c.T4098A:p.N1366K,ENSG00000198604:ENST00000360310:exon24:c.T4098A:p.N1366K Score=502;Name=lod=146 NA 14q13.1 NA NA NA NA rs1044140 0.04 0.04 0.04 0.0385383 0.0805 NA 0.049 0.0023 0.0767 0.08 NA 0.05 0.0041 0.0765 0.097 0.43 T 0.006 B 0.004 B 0.022 N 0.630 D 1.04 L 0.72 T -1.059 T 0.003 T 0.009 2.552 14.49 0.952 0.133 0.631 6.176 2.552387 2.552387 0.61 0.097093 0.021335 NA 0.014 NA 9.0792404 752 17 3119611 3119611 G A exonic OR1A1 NA nonsynonymous SNV OR1A1:NM_014565:exon1:c.G697A:p.V233M exonic ENSG00000172146 NA nonsynonymous SNV ENSG00000172146:ENST00000304094:exon1:c.G697A:p.V233M NA NA 17p13.3 NA NA NA NA rs17762735 0.09 0.09 0.075 0.0986422 0.0895 0.005 0.1556 0.1059 0.1544 0.09 0.0017 0.16 0.11 0.0873 0.16 0.02 D 0.126 B 0.031 B 0.066 N 1.000 P 0.345 N 8.74 T -1.000 T 0.000 T 0.016 0.508 6.755 -2.51 -0.224 -0.379 5.240 0.508156 NA 0.09 0.077674 0.075806 NA 0.167 NA 9.0788594 752 1 54681920 54681920 G C exonic MRPL37 NA nonsynonymous SNV MRPL37:NM_016491:exon6:c.G1097C:p.C366S exonic ENSG00000116221 NA nonsynonymous SNV ENSG00000116221:ENST00000336230:exon4:c.G704C:p.C235S,ENSG00000116221:ENST00000360840:exon6:c.G1097C:p.C366S,ENSG00000116221:ENST00000605337:exon6:c.G1097C:p.C366S NA NA 1p32.3 Score=730;Name=V$SEF1_C NA NA NA rs13571 0.63 0.63 0.627 0.583267 0.7922 0.4028 0.6398 0.6135 0.4734 0.79 0.43 0.65 0.59 0.6806 0.79 1 T 0.001 B 0.0 B 0.002 N 1.000 P -2.28 N 2.5 T -0.990 T 0.000 T 0.197 -2.15 0.005 5.38 1.270 2.059 16.303 -2.149684 NA 1 0.782558 0.656832 NA 0.725 NA 9.0779754 752 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 753 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 753 14 51223789 51223789 C T exonic NIN NA nonsynonymous SNV NIN:NM_020921:exon18:c.G3959A:p.G1320E,NIN:NM_182944:exon18:c.G3959A:p.G1320E,NIN:NM_182946:exon18:c.G3959A:p.G1320E exonic ENSG00000100503 NA nonsynonymous SNV ENSG00000100503:ENST00000530997:exon16:c.G3959A:p.G1320E,ENSG00000100503:ENST00000245441:exon18:c.G3959A:p.G1320E,ENSG00000100503:ENST00000324330:exon18:c.G3959A:p.G1320E,ENSG00000100503:ENST00000382041:exon18:c.G3959A:p.G1320E,ENSG00000100503:ENST00000453196:exon18:c.G3959A:p.G1320E,ENSG00000100503:ENST00000476352:exon18:c.G3959A:p.G1320E Score=343;Name=lod=33 NA 14q22.1 NA NA NA NA rs2073347 0.77 0.77 0.763 0.764377 0.7535 0.6806 0.8487 0.8752 0.6524 0.73 0.68 0.85 0.87 0.7454 0.87 1 T 0.0 B 0.001 B 0.028 N 0.000 P -1.78 N 3.8 T -0.997 T 0.000 T 0.456 -0.23 2.89 6.06 1.119 3.998 11.633 -0.229938 NA 1 0.761628 0.85202 NA 0.754 NA 9.0728054 753 19 54545531 54545531 T C exonic VSTM1 NA nonsynonymous SNV VSTM1:NM_198481:exon5:c.A487G:p.S163G exonic ENSG00000189068 NA nonsynonymous SNV ENSG00000189068:ENST00000338372:exon5:c.A487G:p.S163G,ENSG00000189068:ENST00000366170:exon5:c.A223G:p.S75G,ENSG00000189068:ENST00000447872:exon5:c.A487G:p.S163G Score=272;Name=lod=17 NA 19q13.42 NA NA Name=9 NA rs2433724 0.35 0.35 0.326 0.324081 0.4344 0.1597 0.4352 0.388 0.2147 0.44 0.17 0.44 0.36 0.3908 0.44 0.4 T 0.0 B 0.0 B 0.720 N 0.000 P -0.895 N 6.9 T -0.908 T 0.000 T 0.059 -2.287 0.004 2.55 0.538 0.186 6.087 -2.287139 NA 0.73 0.435581 0.392419 NA 0.283 NA 9.0725524 753 9 101748356 101748356 A G exonic COL15A1 NA nonsynonymous SNV COL15A1:NM_001855:exon3:c.A610G:p.M204V exonic ENSG00000204291 NA nonsynonymous SNV ENSG00000204291:ENST00000375001:exon3:c.A610G:p.M204V Score=401;Name=lod=57 NA 9q22.33 NA NA NA NA rs2075663 0.56 0.56 0.583 0.602835 0.4155 0.5853 0.5447 0.8064 0.5798 0.42 0.59 0.48 0.8 0.4704 0.8 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.69 N -0.55 T -0.930 T 0.000 T 0.041 1.249 10.07 4.34 0.704 4.927 8.838 1.249435 1.249435 1 0.375436 0.746936 NA 0.594 NA 9.0719974 753 16 81076821 81076821 T C exonic ATMIN NA nonsynonymous SNV ATMIN:NM_015251:exon4:c.T718C:p.S240P exonic ENSG00000166454 NA nonsynonymous SNV ENSG00000166454:ENST00000566488:exon3:c.T250C:p.S84P,ENSG00000166454:ENST00000299575:exon4:c.T718C:p.S240P,ENSG00000166454:ENST00000564241:exon4:c.T250C:p.S84P NA NA 16q23.2 NA NA NA NA rs2278022 0.12 0.12 0.097 0.102835 0.0905 0.1974 0.1095 0.0499 0.0849 0.1 0.2 0.11 0.05 0.0976 0.2 0.06 T 0.003 B 0.003 B 0.096 N 1.000 P 2.14 M 1.38 T -1.090 T 0.000 T 0.182 0.978 8.993 3.72 0.522 0.897 5.786 0.978223 NA 0 0.073721 0.0495 NA 0.036 NA 9.0715124 753 20 1426393 1426393 C T exonic NSFL1C NA nonsynonymous SNV NSFL1C:NM_018839:exon7:c.G775A:p.D259N,NSFL1C:NM_016143:exon8:c.G868A:p.D290N exonic ENSG00000088833 NA nonsynonymous SNV ENSG00000088833:ENST00000353088:exon7:c.G775A:p.D259N,ENSG00000088833:ENST00000381658:exon7:c.G535A:p.D179N,ENSG00000088833:ENST00000216879:exon8:c.G868A:p.D290N,ENSG00000088833:ENST00000350991:exon9:c.G874A:p.D292N,ENSG00000088833:ENST00000476071:exon9:c.G874A:p.D292N Score=615;Name=lod=422 NA 20p13 Score=813;Name=V$CDP_02 NA NA NA rs9575 0.48 0.48 0.455 0.466454 0.4076 0.7887 0.5115 0.2534 0.4509 0.43 0.77 0.48 0.24 0.4466 0.77 0.09 T 0.047 B 0.018 B 0.000 N 0.000 P 1.655 L 0.91 T -1.007 T 0.000 T 0.023 2.889 15.62 -1.35 -0.271 1.085 9.160 2.888671 2.888671 0.19 0.409186 0.277122 ID=COSM1410435;OCCURENCE=1(large_intestine) 0.449 NA 9.0699474 753 16 31476458 31476458 C T exonic ARMC5 NA nonsynonymous SNV ARMC5:NM_024742:exon4:c.C2114T:p.A705V exonic ENSG00000140691 NA nonsynonymous SNV ENSG00000140691:ENST00000457010:exon4:c.C2114T:p.A705V NA NA 16p11.2 NA NA NA NA rs11150624 0.39 0.39 0.344 0.304113 0.4463 0.4494 0.5735 0.0507 0.1595 0.45 0.48 0.58 0.06 0.3926 0.58 . . 0.043 B 0.011 B . . 1.000 P . . 2.0 T -0.928 T 0.000 T 0.019 0.774 8.087 -7.27 -1.705 -1.168 4.342 0.773579 NA 0 0.425207 0.10593 ID=COSM1599969;OCCURENCE=1(central_nervous_system) 0.304 NA 9.0692264 753 11 130281488 130281488 G A exonic ADAMTS8 NA nonsynonymous SNV ADAMTS8:NM_007037:exon6:c.C1574T:p.A525V exonic ENSG00000134917 NA nonsynonymous SNV ENSG00000134917:ENST00000257359:exon6:c.C1574T:p.A525V Score=325;Name=lod=28 NA 11q24.3 NA NA NA NA rs2131535 0.77 0.77 0.766 0.74401 0.7694 0.8304 0.8012 0.705 0.6411 0.77 0.82 0.8 0.71 0.7415 0.82 1 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 0.33 T -0.944 T 0.000 T 0.044 0.347 5.884 5.87 1.051 4.831 8.254 0.347222 NA 1 0.754004 0.711205 NA 0.783 NA 9.0684294 753 4 95506842 95506842 G A exonic PDLIM5 NA synonymous SNV PDLIM5:NM_001256428:exon5:c.G471A:p.Q157Q,PDLIM5:NM_001011513:exon6:c.G510A:p.Q170Q,PDLIM5:NM_006457:exon6:c.G837A:p.Q279Q,PDLIM5:NM_001011515:exon7:c.G528A:p.Q176Q,PDLIM5:NM_001256426:exon7:c.G528A:p.Q176Q,PDLIM5:NM_001256427:exon7:c.G528A:p.Q176Q,PDLIM5:NM_001011516:exon8:c.G468A:p.Q156Q exonic ENSG00000163110 NA synonymous SNV ENSG00000163110:ENST00000542407:exon5:c.G471A:p.Q157Q,ENSG00000163110:ENST00000317968:exon6:c.G837A:p.Q279Q,ENSG00000163110:ENST00000437932:exon6:c.G510A:p.Q170Q,ENSG00000163110:ENST00000508216:exon6:c.G528A:p.Q176Q,ENSG00000163110:ENST00000514743:exon6:c.G528A:p.Q176Q,ENSG00000163110:ENST00000380180:exon7:c.G528A:p.Q176Q,ENSG00000163110:ENST00000450793:exon7:c.G528A:p.Q176Q,ENSG00000163110:ENST00000503974:exon7:c.G528A:p.Q176Q,ENSG00000163110:ENST00000538141:exon7:c.G468A:p.Q156Q,ENSG00000163110:ENST00000318007:exon8:c.G468A:p.Q156Q Score=507;Name=lod=153 NA 4q22.3 NA NA NA NA rs11097431 0.2 0.2 0.199 0.172524 0.2038 0.1141 0.1643 0.2504 0.1012 0.22 0.1 0.17 0.3 0.1824 0.3 . . . . . . . . 0.000 P . . . . -1.073 T 0.000 T . 1.182 9.808 3.58 0.719 3.098 12.355 1.182442 NA NA 0.213023 0.26305 ID=COSM1130986,COSM1130985;OCCURENCE=1(prostate) 0.254 NA 9.0674436 753 11 118074337 118074337 A G exonic AMICA1 NA nonsynonymous SNV AMICA1:NM_153206:exon5:c.T548C:p.V183A,AMICA1:NM_001098526:exon6:c.T578C:p.V193A exonic ENSG00000160593 NA nonsynonymous SNV ENSG00000160593:ENST00000292067:exon5:c.T548C:p.V183A,ENSG00000160593:ENST00000526595:exon5:c.T461C:p.V154A,ENSG00000160593:ENST00000526620:exon5:c.T461C:p.V154A,ENSG00000160593:ENST00000533261:exon5:c.T545C:p.V182A,ENSG00000160593:ENST00000356289:exon6:c.T578C:p.V193A NA NA 11q23.3 NA NA NA NA rs1793174 0.78 0.78 0.778 0.802516 0.7356 0.6736 0.7954 0.9251 0.8436 0.74 0.7 0.78 0.92 0.7723 0.92 0.99 T 0.023 B 0.025 B 0.108 N 1.000 P 2.015 M -0.07 T -0.902 T 0.000 T 0.029 -1.605 0.014 -8.32 -5.640 -1.995 1.487 -1.60493 NA 0.92 0.758496 0.902727 ID=COSM147331;OCCURENCE=1(stomach) 0.855 NA 9.0669374 754 6 26104280 26104280 T C exonic HIST1H4C NA synonymous SNV HIST1H4C:NM_003542:exon1:c.T105C:p.I35I exonic ENSG00000197061 NA synonymous SNV ENSG00000197061:ENST00000377803:exon1:c.T105C:p.I35I Score=617;Name=lod=431 NA 6p22.2 Score=848;Name=V$GATA1_03 Name=Sin3Ak-20,GATA3_(SC-268),E2F4,eGFP-JunD,Mxi1_(bHLH),NRSF,ZBTB33,YY1_(C-20),Oct-2,c-Myc,IRF1,ZNF263,GTF2F1_(RAP-74),JunD,eGFP-GATA2,Pol2(b),PAX5-N19,ELK4,Egr-1,TR4,TBP,CCNT2,CEBPB,WHIP,YY1,PU.1,Ini1,TAF7_(SQ-8),E2F6,POU2F2,E2F6_(H-50),FOSL2,Pol2,Pol2(phosphoS2),USF-1,GATA2_(CG2-96),GATA-2,HA-E2F1,CHD2_(N-1250),ELF1_(SC-631),HEY1,ETS1,NELFe,Pbx3,E2F1,BCLAF1_(M33-P5B11),GATA-1,TAF1,HMGN3,RFX5_(N-494),NFKB,BCL3,IRF4_(M-17),GABP,MEF2A,eGFP-JunB,Pol2-4H8 Name=148 NA rs2229768 0.18 0.18 0.176 0.175919 0.1998 0.1667 0.1398 0.2587 0.0746 0.2 0.13 0.14 0.23 0.1838 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.324081 NA NA 0.218256 0.243985 NA 0.13 NA 9.0648106 754 17 18088094 18088094 C T exonic ALKBH5 NA synonymous SNV ALKBH5:NM_017758:exon1:c.C537T:p.H179H exonic ENSG00000091542 NA synonymous SNV ENSG00000091542:ENST00000399138:exon1:c.C537T:p.H179H Score=645;Name=lod=560 NA 17p11.2 Score=896;Name=V$ATF6_01 Name=c-Myc,ZNF263,CTCF,E2F6 Name=92 NA rs11078411 0.18 0.18 0.2 0.179513 0.2078 0.0119 0.1873 0.3011 0.1534 0.2 0.01 0.22 0.32 0.1855 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.170129 NA NA 0.208741 0.272946 NA 0.275 NA 9.0646256 754 1 89847411 89847411 C T exonic GBP6 NA nonsynonymous SNV GBP6:NM_198460:exon7:c.C1030T:p.L344F exonic ENSG00000183347 NA nonsynonymous SNV ENSG00000183347:ENST00000535065:exon5:c.C640T:p.L214F,ENSG00000183347:ENST00000370456:exon7:c.C1030T:p.L344F NA NA 1p22.2 NA Name=CTCF NA NA rs4658360 0.79 0.79 0.788 0.805911 0.7465 0.7262 0.8415 0.9092 0.7843 0.74 0.74 0.83 0.91 0.7771 0.91 0.33 T 0.01 B 0.025 B 0.790 N 1.000 P 0.72 N 4.31 T -0.902 T 0.003 T 0.02 -1.235 0.057 -9.49 -4.167 -2.839 20.088 -1.234974 NA 0.22 0.745465 0.880163 NA 0.703 NA 9.0642684 754 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 754 4 126238924 126238924 A T exonic FAT4 NA nonsynonymous SNV FAT4:NM_024582:exon1:c.A1358T:p.Q453L exonic ENSG00000196159 NA nonsynonymous SNV ENSG00000196159:ENST00000394329:exon1:c.A1358T:p.Q453L NA NA 4q28.1 NA Name=Rad21,CTCFL_(SC-98982),CTCF,CTCF_(SC-5916) Name=84 NA rs6847454 0.42 0.42 0.447 0.426318 0.4205 0.2371 0.4092 0.615 0.3845 0.42 0.23 0.41 0.63 0.4234 0.63 0.3 T 0.002 B 0.009 B 0.980 U 0.946 P 0 N 0.61 T -0.928 T 0.000 T 0.07 -0.59 1.356 -2.64 -0.504 0.150 7.174 -0.590036 NA 0.1 0.426739 0.545298 NA 0.464 NA 9.0626944 754 9 116931099 116931099 G A exonic COL27A1 NA nonsynonymous SNV COL27A1:NM_032888:exon3:c.G1264A:p.A422T exonic ENSG00000196739 NA nonsynonymous SNV ENSG00000196739:ENST00000451716:exon1:c.G1105A:p.A369T,ENSG00000196739:ENST00000356083:exon3:c.G1264A:p.A422T NA NA 9q32 NA NA NA NA rs2241671 0.41 0.41 0.436 0.376398 0.4304 0.5129 0.317 0.3041 0.32 0.42 0.53 0.35 0.31 0.4086 0.53 1 T 0.003 B 0.002 B . . 1.000 P -0.895 N -2.45 D -1.020 T 0.000 T 0.237 0.977 8.99 -8.53 -1.614 -0.604 1.123 0.977384 NA 1 0.432209 0.333409 ID=COSM150683;OCCURENCE=1(stomach) 0.478 NA 9.0621244 754 6 152652034 152652034 A T exonic SYNE1 NA nonsynonymous SNV SYNE1:NM_033071:exon77:c.T13573A:p.S4525T,SYNE1:NM_182961:exon78:c.T13786A:p.S4596T exonic ENSG00000131018 NA nonsynonymous SNV ENSG00000131018:ENST00000423061:exon77:c.T13573A:p.S4525T,ENSG00000131018:ENST00000265368:exon78:c.T13786A:p.S4596T,ENSG00000131018:ENST00000367255:exon78:c.T13786A:p.S4596T,ENSG00000131018:ENST00000448038:exon78:c.T13573A:p.S4525T,ENSG00000131018:ENST00000341594:exon81:c.T13027A:p.S4343T NA NA 6q25.2 NA NA Name=6 NA rs6911096 0.82 0.82 0.831 0.803315 0.7475 0.8591 0.8386 0.907 0.638 0.77 0.85 0.8 0.89 0.776 0.89 0.5 T 0.0 B 0.001 B 0.130 N 1.000 P -0.69 N 1.35 T -1.024 T 0.008 T 0.01 -2.283 0.004 -11.9 -7.124 -2.513 2.429 -2.282663 NA 0.4 0.748953 0.887426 ID=COSM450728,COSM1487365,COSM450729;OCCURENCE=1(breast) 0.812 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118444.2;CLNDSDB=.;CLNDSDBID=. 9.0608804 754 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 754 14 21024786 21024786 A G exonic RNASE9 NA nonsynonymous SNV RNASE9:NM_001001673:exon2:c.T443C:p.F148S,RNASE9:NM_001110356:exon3:c.T443C:p.F148S,RNASE9:NM_001110357:exon3:c.T443C:p.F148S,RNASE9:NM_001110358:exon4:c.T458C:p.F153S,RNASE9:NM_001110360:exon4:c.T458C:p.F153S,RNASE9:NM_001110359:exon5:c.T458C:p.F153S,RNASE9:NM_001110361:exon5:c.T458C:p.F153S exonic ENSG00000188655 NA nonsynonymous SNV ENSG00000188655:ENST00000338904:exon2:c.T443C:p.F148S,ENSG00000188655:ENST00000429244:exon3:c.T443C:p.F148S,ENSG00000188655:ENST00000554964:exon3:c.T443C:p.F148S,ENSG00000188655:ENST00000555230:exon3:c.T443C:p.F148S,ENSG00000188655:ENST00000553541:exon4:c.T443C:p.F148S,ENSG00000188655:ENST00000556208:exon4:c.T458C:p.F153S,ENSG00000188655:ENST00000557068:exon4:c.T443C:p.F148S,ENSG00000188655:ENST00000557209:exon4:c.T458C:p.F153S,ENSG00000188655:ENST00000404716:exon5:c.T458C:p.F153S,ENSG00000188655:ENST00000553706:exon5:c.T458C:p.F153S NA NA 14q11.2 NA NA Name=7 NA rs12590446 0.6 0.6 0.566 0.577476 0.7823 0.6607 0.6527 0.1891 0.7526 0.78 0.68 0.64 0.19 0.7109 0.78 1 T 0.004 B 0.004 B . . 1.000 P 0.41 N -0.46 T -1.017 T 0.000 T 0.052 -0.807 0.658 -7.47 -2.947 -1.912 5.971 -0.807018 NA 0.45 0.780233 0.279392 NA 0.572 NA 9.0599004 754 16 3065924 3065924 G A exonic CLDN6 NA synonymous SNV CLDN6:NM_021195:exon2:c.C99T:p.T33T exonic ENSG00000184697 NA synonymous SNV ENSG00000184697:ENST00000328796:exon2:c.C99T:p.T33T,ENSG00000184697:ENST00000396925:exon3:c.C99T:p.T33T Score=634;Name=lod=505 NA 16p13.3 Score=784;Name=V$COMP1_01 Name=Pol2-4H8 NA Score=100;Name=869010_0_-_100 rs2269911 0.22 0.22 0.205 0.230431 0.1978 0.4028 0.1585 0.1399 0.2597 0.2 0.37 0.17 0.13 0.2188 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.828873 NA NA 0.190349 0.138535 ID=COSM148007;OCCURENCE=1(stomach) 0.145 NA 9.0597176 754 10 103920475 103920475 T C exonic NOLC1 NA nonsynonymous SNV NOLC1:NM_004741:exon10:c.T1366C:p.S456P exonic ENSG00000166197 NA nonsynonymous SNV ENSG00000166197:ENST00000603742:exon9:c.T523C:p.S175P,ENSG00000166197:ENST00000405356:exon10:c.T1396C:p.S466P,ENSG00000166197:ENST00000488254:exon10:c.T1369C:p.S457P,ENSG00000166197:ENST00000605788:exon10:c.T1366C:p.S456P NA NA 10q24.32 NA Name=Pol2,Pol2(b) Name=3 NA rs1049455 0.16 0.16 0.173 0.182907 0.0815 0.001 0.1052 0.5477 0.0368 0.09 NA 0.12 0.49 0.1075 0.49 0.4 T 0.0 B 0.0 B 0.130 N 1.000 P 0.94 L 0.77 T -0.908 T 0.000 T 0.051 -0.293 2.603 -0.492 -0.348 -0.550 5.276 -0.292553 NA 0.4 0.084767 0.457539 NA 0.232 NA 9.0595664 754 3 45017782 45017782 A G exonic EXOSC7 NA nonsynonymous SNV EXOSC7:NM_015004:exon1:c.A13G:p.T5A exonic ENSG00000075914 NA nonsynonymous SNV ENSG00000075914:ENST00000265564:exon1:c.A13G:p.T5A NA NA 3p21.31 NA Name=POU2F2,E2F6,USF1_(SC-8983),Pol2(phosphoS2),Pol2,ATF3,HEY1,Pol2-4H8,NFKB,HMGN3,TAF1,PAX5-C20,Mxi1_(bHLH),E2F4,Sin3Ak-20,SRF,IRF1,SP1,c-Myc,Oct-2,YY1_(C-20),Max,YY1,BRCA1_(C-1863),TBP Name=146 NA rs11547235 0.05 0.05 0.059 0.0471246 0.0895 0.0228 0.0677 0.0136 0.0593 0.09 0.02 0.06 0.02 0.0915 0.093 0.77 T 0.0 B 0.0 B 0.812 N 1.000 N -0.28 N 1.03 T -1.045 T 0.002 T 0.02 -0.256 2.771 -1.32 -0.453 -0.934 1.303 -0.255624 NA 0.96 0.093183 0.025023 NA 0.014 NA 9.0591504 754 22 31533796 31533796 G C exonic PLA2G3 NA nonsynonymous SNV PLA2G3:NM_015715:exon4:c.C966G:p.S322R exonic ENSG00000100078 NA nonsynonymous SNV ENSG00000100078:ENST00000215885:exon4:c.C966G:p.S322R NA NA 22q12.2 NA NA NA NA rs2072193 0.15 0.15 0.115 0.172923 0.0795 0.38 0.1412 0.0053 0.3047 0.09 0.35 0.13 0.0041 0.1257 0.35 0.01 D 0.926 P 0.454 P 0.034 N 1.000 P 1.845 L 2.59 T -0.928 T 0.000 T 0.056 2.552 14.49 -1.49 0.031 -0.195 4.984 2.55169 2.55169 0.08 0.070581 0.021108 NA 0.08 NA 9.0575524 754 15 40558482 40558482 A G exonic PAK6 NA nonsynonymous SNV PAK6:NM_001276717:exon3:c.A644G:p.H215R,PAK6:NM_001128629:exon4:c.A644G:p.H215R,PAK6:NM_001128628:exon5:c.A644G:p.H215R,PAK6:NM_001276718:exon5:c.A644G:p.H215R,PAK6:NM_020168:exon5:c.A644G:p.H215R exonic ENSG00000137843 NA nonsynonymous SNV ENSG00000137843:ENST00000542403:exon3:c.A644G:p.H215R,ENSG00000137843:ENST00000560669:exon3:c.A644G:p.H215R,ENSG00000137843:ENST00000453867:exon4:c.A644G:p.H215R,ENSG00000137843:ENST00000260404:exon5:c.A644G:p.H215R,ENSG00000137843:ENST00000441369:exon5:c.A644G:p.H215R,ENSG00000137843:ENST00000455577:exon5:c.A644G:p.H215R,ENSG00000137843:ENST00000560346:exon5:c.A644G:p.H215R NA NA 15q15.1 Score=827;Name=V$CDPCR3_01 NA NA NA rs3743135 0.16 0.16 0.167 0.190296 0.0865 0.1468 0.0764 0.3555 0.1994 0.09 0.15 0.1 0.33 0.1156 0.33 0.69 T 0.0 B 0.0 B 0.862 N 1.000 P 0 N -0.67 T -1.053 T 0.000 T 0.25 -1.786 0.01 0.154 -0.150 1.186 6.832 -1.78619 NA 0.64 0.075846 0.276639 ID=COSM433767;OCCURENCE=1(breast) 0.196 NA 9.0553874 755 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 755 14 100759277 100759277 C T exonic SLC25A29 NA synonymous SNV SLC25A29:NM_001039355:exon4:c.G255A:p.R85R exonic ENSG00000197119 NA nonsynonymous SNV ENSG00000197119:ENST00000392908:exon3:c.G211A:p.G71S,ENSG00000197119:ENST00000554060:exon3:c.G211A:p.G71S Score=472;Name=lod=111 NA 14q32.2 Score=912;Name=V$NF1_Q6 NA NA NA rs3742379 0.32 0.32 0.325 0.279553 0.3121 0.5317 0.2565 0.1876 0.1268 0.29 0.54 0.25 0.16 0.335 0.54 0 D . . . . . . 0.000 P . . . . -0.924 T 0.000 T . 0.538 6.911 1.99 0.111 0.082 3.268 0.53772 NA NA 0.298518 0.191459 ID=COSM432665;OCCURENCE=1(breast) 0.261 NA 9.054382 755 17 1183354 1183354 T C exonic TUSC5 NA nonsynonymous SNV TUSC5:NM_172367:exon1:c.T59C:p.F20S exonic ENSG00000184811 NA nonsynonymous SNV ENSG00000184811:ENST00000333813:exon1:c.T59C:p.F20S Score=333;Name=lod=30 NA 17p13.3 NA NA NA NA rs6502774 0.84 0.84 0.844 0.849042 0.7435 0.8819 0.8876 0.9244 0.7945 0.73 0.9 0.86 0.93 0.7904 0.93 0.36 T 0.0 B 0.0 B 0.000 U 1.000 P 0 N -0.44 T -0.988 T 0.000 T 0.084 3.225 16.81 5.22 1.247 2.666 10.057 3.22547 3.22547 0.33 0.746508 0.898279 NA 0.804 NA 9.0529254 755 2 234255548 234255548 T C exonic SAG NA nonsynonymous SNV SAG:NM_000541:exon16:c.T1208C:p.V403A exonic ENSG00000130561 NA nonsynonymous SNV ENSG00000130561:ENST00000409110:exon16:c.T1208C:p.V403A NA NA 2q37.1 NA NA NA NA rs1046976 0.12 0.12 0.126 0.140176 0.0855 0.0466 0.1095 0.2625 0.1493 0.08 0.05 0.1 0.29 0.1121 0.29 0.75 T 0.0 B 0.0 B 0.095 N 1.000 P 0 N 3.25 T -0.944 T 0.000 T 0.029 -0.705 0.955 -8.79 -2.003 -0.364 2.887 -0.705056 NA 1 0.082954 0.231076 NA 0.297 NA 9.0527794 755 18 59814324 59814324 G C exonic PIGN NA nonsynonymous SNV PIGN:NM_012327:exon8:c.C685G:p.H229D,PIGN:NM_176787:exon9:c.C685G:p.H229D exonic ENSG00000197563 NA nonsynonymous SNV ENSG00000197563:ENST00000589414:exon2:c.C136G:p.H46D,ENSG00000197563:ENST00000588748:exon6:c.C454G:p.H152D,ENSG00000197563:ENST00000400334:exon8:c.C685G:p.H229D,ENSG00000197563:ENST00000357637:exon9:c.C685G:p.H229D Score=514;Name=lod=163 NA 18q21.33 Score=876;Name=V$MRF2_01 NA NA NA rs9320001 0.83 0.83 0.811 0.847244 0.7435 0.9345 0.7896 0.885 0.8538 0.74 0.93 0.78 0.88 0.7845 0.93 . . 0.0 B 0.0 B 0.001 N 1.000 P -0.99 N -0.36 T -0.980 T 0.000 T 0.029 -1.63 0.013 3.71 0.385 1.765 7.585 -1.629729 NA 0.99 0.752705 0.877716 NA 0.87 NA 9.0526284 755 5 132652281 132652281 C T exonic FSTL4 NA nonsynonymous SNV FSTL4:NM_015082:exon5:c.G473A:p.R158H exonic ENSG00000053108 NA nonsynonymous SNV ENSG00000053108:ENST00000265342:exon5:c.G473A:p.R158H NA NA 5q31.1 NA Name=CTCF_(C-20),CTCF,SMC3_(ab9263),CTCFL_(SC-98982),Rad21,YY1_(C-20) Name=26 NA rs17683306 0.05 0.05 0.051 0.0345447 0.0954 0.001 0.0562 0.0083 0.0266 0.1 NA 0.06 0.01 0.0772 0.11 0.26 T 0.006 B 0.001 B 0.172 N 1.000 N 1.78 L 0.25 T -1.115 T 0.004 T 0.046 0.872 8.534 1.44 0.304 -0.624 8.193 0.871664 NA 0.07 0.109651 0.0202 NA 0.029 NA 9.0510824 755 6 29364643 29364643 T C exonic OR12D2 NA nonsynonymous SNV OR12D2:NM_013936:exon1:c.T167C:p.L56P exonic ENSG00000168787 NA nonsynonymous SNV ENSG00000168787:ENST00000383555:exon1:c.T167C:p.L56P Score=428;Name=lod=73 NA 6p22.1 NA NA NA NA rs4987411 0.36 0.36 0.351 0.31889 0.4523 0.3641 0.3458 0.1921 0.2873 0.47 0.36 0.34 0.21 0.3858 0.47 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.6 N 10.38 T -0.899 T 0.000 T 0.141 -1.93 0.008 3.2 0.387 5.299 9.859 -1.929605 NA 1 0.44426 0.219536 NA 0.29 NA 9.0509734 755 6 29364951 29364951 G A exonic OR12D2 NA nonsynonymous SNV OR12D2:NM_013936:exon1:c.G475A:p.V159I exonic ENSG00000168787 NA nonsynonymous SNV ENSG00000168787:ENST00000383555:exon1:c.G475A:p.V159I NA NA 6p22.1 Score=885;Name=V$OCT1_03 NA NA NA rs2073151 0.36 0.36 0.363 0.319089 0.4523 0.3641 0.3473 0.1921 0.2873 0.47 0.36 0.34 0.21 0.3859 0.47 0.89 T 0.021 B 0.05 B 0.277 N 1.000 P 0.46 N 1.22 T -0.964 T 0.014 T 0.031 -1.446 0.02 -3.14 -0.890 -3.504 9.281 -1.445958 NA 0.43 0.445183 0.221707 NA 0.297 NA 9.0499504 755 22 37581485 37581485 C A exonic C1QTNF6 NA nonsynonymous SNV C1QTNF6:NM_031910:exon2:c.G62T:p.G21V,C1QTNF6:NM_182486:exon2:c.G62T:p.G21V exonic ENSG00000133466 NA nonsynonymous SNV ENSG00000133466:ENST00000337843:exon2:c.G62T:p.G21V,ENSG00000133466:ENST00000397110:exon2:c.G62T:p.G21V,ENSG00000133466:ENST00000434784:exon2:c.G62T:p.G21V Score=410;Name=lod=62 Name=Vitiligo,Graves' disease 22q12.3 Score=909;Name=V$TCF11_01 NA NA NA rs229527 0.46 0.46 0.444 0.45008 0.4225 0.6548 0.3934 0.3457 0.4489 0.39 0.69 0.4 0.35 0.4395 0.69 0.24 T 0.017 B 0.007 B 0.423 N 0.000 P 1.1 L 1.22 T -0.971 T 0.000 T 0.059 1.894 12.29 1.04 0.876 0.776 0.452 1.893803 1.893803 0.24 0.423023 0.344303 NA 0.399 NA 9.0483104 755 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 755 15 41105926 41105926 T G exonic ZFYVE19 NA nonsynonymous SNV ZFYVE19:NM_001258420:exon8:c.T922G:p.S308A,ZFYVE19:NM_001077268:exon9:c.T1126G:p.S376A,ZFYVE19:NM_001258421:exon9:c.T601G:p.S201A,ZFYVE19:NM_032850:exon10:c.T1096G:p.S366A exonic ENSG00000166140 NA nonsynonymous SNV ENSG00000166140:ENST00000299173:exon8:c.T922G:p.S308A,ENSG00000166140:ENST00000566407:exon8:c.T850G:p.S284A,ENSG00000166140:ENST00000355341:exon9:c.T1126G:p.S376A,ENSG00000166140:ENST00000564258:exon9:c.T601G:p.S201A,ENSG00000166140:ENST00000336455:exon10:c.T1096G:p.S366A,ENSG00000166140:ENST00000570108:exon10:c.T1057G:p.S353A Score=572;Name=lod=281 NA 15q15.1 NA NA NA NA rs690347 0.82 0.82 0.792 0.807708 0.7555 0.8968 0.8386 0.7685 0.8006 0.76 0.91 0.83 0.78 0.7843 0.91 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.175 N 1.61 T -0.958 T 0.000 T 0.307 1.144 9.661 5.27 1.472 5.701 14.498 1.144111 NA 1 0.745722 0.772705 NA 0.754 NA 9.0478114 755 2 132241731 132241731 T C exonic MZT2A NA nonsynonymous SNV MZT2A:NM_001085365:exon3:c.A380G:p.H127R exonic ENSG00000173272 NA nonsynonymous SNV ENSG00000173272:ENST00000309451:exon3:c.A380G:p.H127R Score=493;Name=lod=135 NA 2q21.1 NA NA NA NA rs75021268 0.15 0.15 0.19 0.167931 0.0924 0.004 0.1037 0.4607 0.0644 0.08 0.0035 0.11 0.48 0.1023 0.48 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.955 N 2.26 T -0.936 T 0.000 T 0.012 -3.004 0.001 1.32 -0.092 2.095 6.272 -3.004465 NA 1 0.091628 0.406264 NA 0.203 NA 9.0470054 755 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 755 7 88965021 88965021 G A exonic ZNF804B NA nonsynonymous SNV ZNF804B:NM_181646:exon4:c.G2725A:p.E909K exonic ENSG00000182348 NA nonsynonymous SNV ENSG00000182348:ENST00000333190:exon4:c.G2725A:p.E909K NA NA 7q21.13 NA NA NA NA rs10487075 0.07 0.07 0.058 0.0537141 0.0994 0.0843 0.0576 0.003 0.0409 0.1 0.07 0.08 0.002 0.0813 0.11 0.02 D 0.002 B 0.004 B 0.288 N 1.000 N 0.975 L 3.52 T -0.972 T 0.000 T 0.044 1.975 12.56 2.02 0.710 0.532 6.800 1.975107 1.975107 0.24 0.106628 0.023831 NA 0.036 NA 9.0460054 756 10 6472891 6472891 G T exonic PRKCQ NA synonymous SNV PRKCQ:NM_001242413:exon16:c.C1657A:p.R553R,PRKCQ:NM_006257:exon17:c.C1846A:p.R616R exonic ENSG00000065675 NA synonymous SNV ENSG00000065675:ENST00000397176:exon16:c.C1657A:p.R553R,ENSG00000065675:ENST00000539722:exon16:c.C1471A:p.R491R,ENSG00000065675:ENST00000263125:exon17:c.C1846A:p.R616R Score=433;Name=lod=77 Name=Type 1 diabetes 10p15.1 NA NA NA NA rs11258747 0.13 0.13 0.122 0.122604 0.2187 0.0308 0.1124 0.1271 0.1196 0.22 0.03 0.12 0.11 0.1815 0.22 . . . . . . . . 0.000 P . . . . . . . . . 0.944 8.847 1.63 0.027 1.036 7.445 0.943677 NA NA 0.22186 0.141625 NA 0.203 NA 9.0446066 756 9 99581568 99581568 T C exonic ZNF782 NA nonsynonymous SNV ZNF782:NM_001001662:exon6:c.A737G:p.N246S exonic ENSG00000196597 NA nonsynonymous SNV ENSG00000196597:ENST00000535338:exon3:c.A341G:p.N114S,ENSG00000196597:ENST00000481138:exon6:c.A737G:p.N246S NA NA 9q22.33 NA NA NA NA rs34763627 0.05 0.05 0.041 0.0317492 0.1064 0.002 0.0519 0.0023 0.0112 0.1 NA 0.06 0.002 0.0744 0.11 0.3 T 0.002 B 0.002 B 0.530 N 1.000 N 0.52 N 3.51 T -0.934 T 0.000 T 0.026 0.948 8.866 -3.52 -0.766 -1.910 3.813 0.948211 NA NA 0.10863 0.019973 NA 0.007 NA 9.0439034 756 14 35872926 35872926 G A exonic NFKBIA NA synonymous SNV NFKBIA:NM_020529:exon2:c.C306T:p.A102A exonic ENSG00000100906 NA synonymous SNV ENSG00000100906:ENST00000557389:exon1:c.C36T:p.A12A,ENSG00000100906:ENST00000216797:exon2:c.C306T:p.A102A,ENSG00000100906:ENST00000557140:exon2:c.C306T:p.A102A Score=564;Name=lod=262 NA 14q13.2 Score=792;Name=V$HTF_01 Name=HA-E2F1,CHD2_(N-1250),Pol2(phosphoS2),Pol2,ELF1_(SC-631),Pol2-4H8,HMGN3,TAF1,Nrf1,c-Myc,Max,TCF4,EBF,TBP,Pol2(b) Name=148 NA rs1050851 0.12 0.12 0.114 0.101637 0.2217 0.0188 0.1383 0.0204 0.1472 0.22 0.02 0.16 0.03 0.1734 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.049233 2.049233 NA 0.227791 0.059464 NA 0.232 NA 9.0437756 756 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 756 10 99504630 99504630 G T exonic ZFYVE27 NA nonsynonymous SNV ZFYVE27:NM_001174121:exon2:c.G119T:p.G40V,ZFYVE27:NM_001002261:exon3:c.G413T:p.G138V,ZFYVE27:NM_001174119:exon3:c.G317T:p.G106V,ZFYVE27:NM_001002262:exon4:c.G413T:p.G138V,ZFYVE27:NM_144588:exon4:c.G413T:p.G138V exonic ENSG00000155256 NA nonsynonymous SNV ENSG00000155256:ENST00000370610:exon2:c.G119T:p.G40V,ENSG00000155256:ENST00000337540:exon3:c.G317T:p.G106V,ENSG00000155256:ENST00000356257:exon3:c.G413T:p.G138V,ENSG00000155256:ENST00000423811:exon3:c.G347T:p.G116V,ENSG00000155256:ENST00000359980:exon4:c.G413T:p.G138V,ENSG00000155256:ENST00000393677:exon4:c.G413T:p.G138V,ENSG00000155256:ENST00000453958:exon4:c.G413T:p.G138V Score=346;Name=lod=34 NA 10q24.2 NA NA NA NA rs10882993 0.71 0.71 0.74 0.696486 0.7962 0.5427 0.6023 0.7761 0.7117 0.79 0.57 0.67 0.79 0.7324 0.79 1 T 0.0 B 0.0 B 0.000 N 0.000 P -0.975 N 1.86 T -0.949 T 0.000 T 0.195 -1.618 0.013 4.53 0.428 3.331 8.627 -1.61796 NA 1 0.761977 0.767484 NA 0.638 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118905.2;CLNDSDB=.;CLNDSDBID=. 9.0427564 756 10 70992664 70992664 C T exonic HKDC1 NA nonsynonymous SNV HKDC1:NM_025130:exon3:c.C371T:p.T124I exonic ENSG00000156510 NA nonsynonymous SNV ENSG00000156510:ENST00000354624:exon3:c.C371T:p.T124I,ENSG00000156510:ENST00000395086:exon3:c.C371T:p.T124I NA NA 10q22.1 NA NA Name=3 NA rs874556 0.55 0.55 0.542 0.533946 0.4135 0.7361 0.4539 0.5545 0.4785 0.42 0.77 0.41 0.59 0.4645 0.77 0.13 T 0.0 B 0.001 B 0.602 N 1.000 P 1.79 L -5.36 D -0.934 T 0.000 T 0.069 1.972 12.55 1.69 0.168 1.080 5.673 1.972198 1.972198 0.05 0.414884 0.528824 NA 0.5 NA 9.0404494 756 4 40428010 40428010 T C exonic RBM47 NA nonsynonymous SNV RBM47:NM_019027:exon5:c.A1486G:p.M496V,RBM47:NM_001098634:exon7:c.A1693G:p.M565V exonic ENSG00000163694 NA nonsynonymous SNV ENSG00000163694:ENST00000381795:exon5:c.A1486G:p.M496V,ENSG00000163694:ENST00000319592:exon6:c.A1486G:p.M496V,ENSG00000163694:ENST00000381793:exon6:c.A1693G:p.M565V,ENSG00000163694:ENST00000514014:exon6:c.A1579G:p.M527V,ENSG00000163694:ENST00000295971:exon7:c.A1693G:p.M565V Score=300;Name=lod=22 NA 4p14 Score=848;Name=V$SRF_Q6 NA NA NA rs278981 0.65 0.65 0.673 0.692292 0.7843 0.5784 0.7767 0.6725 0.682 0.72 0.53 0.73 0.61 0.745 0.76 0.36 T 0.0 B 0.0 B 0.000 N 1.000 P -0.695 N 2.7 T -0.919 T 0.000 T 0.047 -1.265 0.046 3.82 0.322 2.476 10.683 -1.264835 NA 0.88 0.764302 0.702451 NA 0.645 NA 9.0397314 756 22 26164413 26164413 C T exonic MYO18B NA nonsynonymous SNV MYO18B:NM_032608:exon4:c.C530T:p.P177L exonic ENSG00000133454 NA nonsynonymous SNV ENSG00000133454:ENST00000539302:exon3:c.C530T:p.P177L,ENSG00000133454:ENST00000335473:exon4:c.C530T:p.P177L,ENSG00000133454:ENST00000407587:exon4:c.C530T:p.P177L,ENSG00000133454:ENST00000536101:exon4:c.C530T:p.P177L NA NA 22q12.1 NA NA NA NA rs13058434 0.13 0.13 0.098 0.170927 0.0775 0.3026 0.1916 0.0242 0.3149 0.08 0.28 0.16 0.03 0.1405 0.28 0.25 T 0.009 B 0.004 B 0.417 N 1.000 P 0 N -2.04 D -1.099 T 0.000 T 0.07 1.111 9.533 3.08 0.835 0.643 6.537 1.111448 NA 0.3 0.077342 0.026451 NA 0.174 NA 9.0379914 756 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 757 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 757 19 2226676 2226676 G A exonic DOT1L NA nonsynonymous SNV DOT1L:NM_032482:exon27:c.G4156A:p.G1386S exonic ENSG00000104885 NA nonsynonymous SNV ENSG00000104885:ENST00000457590:exon4:c.G796A:p.G266S,ENSG00000104885:ENST00000398665:exon27:c.G4156A:p.G1386S NA NA 19p13.3 NA NA Name=2 NA rs3815308 0.28 0.28 0.316 0.225639 0.4692 0.1825 0.3069 0.0356 0.2188 0.46 0.2 0.34 0.04 0.3989 0.46 0 D 0.105 B 0.008 B 0.752 N 1.000 P 0.55 N 2.06 T -0.920 T 0.000 T 0.028 -1.555 0.015 0.43 -0.020 1.858 10.644 -1.555274 NA 0.19 0.432499 0.093624 NA 0.21 NA 9.0327344 757 2 107459974 107459974 C T exonic ST6GAL2 NA nonsynonymous SNV ST6GAL2:NM_001142351:exon2:c.G460A:p.G154R,ST6GAL2:NM_001142352:exon2:c.G460A:p.G154R,ST6GAL2:NM_032528:exon2:c.G460A:p.G154R exonic ENSG00000144057 NA nonsynonymous SNV ENSG00000144057:ENST00000361686:exon2:c.G460A:p.G154R,ENSG00000144057:ENST00000409087:exon2:c.G460A:p.G154R,ENSG00000144057:ENST00000409382:exon2:c.G460A:p.G154R NA NA 2q12.2 NA NA NA NA rs3796110 0.12 0.12 0.101 0.140176 0.1014 0.1369 0.147 0.1505 0.1646 0.1 0.13 0.11 0.15 0.125 0.15 0.59 T 0.055 B 0.005 B 0.826 N 1.000 P 0 N 2.53 T -0.969 T 0.000 T 0.033 0.109 4.589 -2.16 -0.671 -1.227 13.028 0.109487 NA 0.12 0.074302 0.148661 NA 0.058 NA 9.0326314 757 1 152636843 152636843 A T exonic LCE2D NA nonsynonymous SNV LCE2D:NM_178430:exon2:c.A262T:p.S88C exonic ENSG00000187223 NA nonsynonymous SNV ENSG00000187223:ENST00000368784:exon2:c.A262T:p.S88C NA NA 1q21.3 NA NA NA NA rs9793541 0.14 0.14 0.147 0.124601 0.3032 0.0298 0.1585 0.0159 0.1616 0.3 0.03 0.19 0.01 0.2081 0.3 0 D 0.805 P 0.123 B . . 1.000 P 2.33 M 3.35 T -0.969 T 0.007 T 0.046 0.114 4.613 0.291 -0.181 0.682 4.694 0.113868 NA 0 0.289646 0.065861 NA 0.123 NA 9.0323874 757 11 58190136 58190136 A G exonic OR5B2 NA nonsynonymous SNV OR5B2:NM_001005566:exon1:c.T599C:p.M200T exonic ENSG00000172365 NA nonsynonymous SNV ENSG00000172365:ENST00000302581:exon1:c.T599C:p.M200T NA NA 11q12.1 NA NA NA NA rs4298923 0.47 0.47 0.48 0.491414 0.4394 0.2738 0.4481 0.7413 0.4622 0.44 0.32 0.43 0.74 0.4458 0.74 0.04 D 0.001 B 0.001 B 0.961 U 1.000 P -0.49 N 8.78 T -0.930 T 0.000 T 0.143 0.036 4.201 3.73 1.703 0.514 11.648 0.035935 NA 0.07 0.418277 0.660382 NA 0.471 NA 9.0298564 757 8 33369944 33369944 T C exonic TTI2 NA nonsynonymous SNV TTI2:NM_025115:exon1:c.A188G:p.E63G,TTI2:NM_001102401:exon2:c.A188G:p.E63G,TTI2:NM_001265581:exon2:c.A188G:p.E63G exonic ENSG00000129696 NA nonsynonymous SNV ENSG00000129696:ENST00000360742:exon1:c.A188G:p.E63G,ENSG00000129696:ENST00000520636:exon1:c.A188G:p.E63G,ENSG00000129696:ENST00000431156:exon2:c.A188G:p.E63G,ENSG00000129696:ENST00000523305:exon3:c.A188G:p.E63G NA NA 8p12 NA NA Name=60 NA rs2304748 0.54 0.54 0.536 0.506789 0.6252 0.5556 0.4654 0.4463 0.4458 0.61 0.56 0.47 0.45 0.5614 0.62 0.07 T 0.689 P 0.186 B 0.011 N 1.000 P 2.35 M 0.6 T -0.922 T 0.000 T 0.217 2.425 14.07 3.34 0.735 0.768 8.882 2.425243 2.425243 0.07 0.617674 0.461189 NA 0.623 NA 9.0290594 757 11 64882789 64882789 C T exonic TM7SF2 NA nonsynonymous SNV TM7SF2:NM_003273:exon8:c.C896T:p.T299I exonic ENSG00000149809 NA nonsynonymous SNV ENSG00000149809:ENST00000527968:exon4:c.C392T:p.T131I,ENSG00000149809:ENST00000526809:exon5:c.C542T:p.T181I,ENSG00000149809:ENST00000531321:exon7:c.C614T:p.T205I,ENSG00000149809:ENST00000534371:exon7:c.C692T:p.T231I,ENSG00000149809:ENST00000540748:exon7:c.C548T:p.T183I,ENSG00000149809:ENST00000279263:exon8:c.C896T:p.T299I,ENSG00000149809:ENST00000525385:exon8:c.C809T:p.T270I NA NA 11q13.1 NA NA NA NA rs1129195 0.38 0.38 0.341 0.365216 0.4463 0.2728 0.5821 0.3268 0.2751 0.44 0.24 0.56 0.33 0.4179 0.56 0.65 T 0.0 B 0.0 B 0.384 N 1.000 P -1.045 N -4.44 D -0.967 T 0.000 T 0.421 -0.536 1.563 2.68 0.076 2.583 7.788 -0.536194 NA 0.53 0.440588 0.326098 NA 0.319 NA 9.0285454 757 3 46399208 46399208 G A exonic CCR2 NA nonsynonymous SNV CCR2:NM_001123041:exon2:c.G190A:p.V64I,CCR2:NM_001123396:exon2:c.G190A:p.V64I exonic ENSG00000121807 NA nonsynonymous SNV ENSG00000121807:ENST00000400888:exon1:c.G190A:p.V64I,ENSG00000121807:ENST00000292301:exon2:c.G190A:p.V64I,ENSG00000121807:ENST00000445132:exon2:c.G190A:p.V64I,ENSG00000121807:ENST00000421659:exon3:c.G190A:p.V64I NA NA 3p21.31 NA NA NA NA rs1799864 0.17 0.17 0.158 0.153754 0.0865 0.2133 0.2118 0.1702 0.0982 0.1 0.22 0.19 0.2 0.1267 0.22 0.22 T 0.185 B 0.129 B 0.089 N 1.000 P 0.815 L -0.42 T -1.092 T 0.000 T 0.241 1.512 11.01 1.62 0.543 1.270 4.619 1.512371 1.512371 0.23 0.091988 0.157844 NA 0.145 CLINSIG=pathogenic;CLNDBN=Congenital_human_immunodeficiency_virus;CLNREVSTAT=single;CLNACC=RCV000008756.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1836230:609423 9.0281454 757 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 757 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$TCF11_01 Name=Pol2,Pol2(phosphoS2),USF-1,TCF12,Ini1,POU2F2,E2F6_(H-50),TAF1,HMGN3,ZEB1_(SC-25388),NFKB,Pol2-4H8,HEY1,ETS1,YY1_(C-20),Oct-2,c-Myc,Sin3Ak-20,PAX5-C20,Pol2(b),TBP,YY1,GTF2F1_(RAP-74),SMC3_(ab9263) Name=145 NA rs1051533 0.19 0.19 0.224 0.203474 0.2127 0.0089 0.1513 0.3888 0.181 0.2 0.01 0.15 0.4 0.2037 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212618 NA NA 0.222791 0.359283 NA 0.275 NA 9.0274756 757 4 84230619 84230619 T C exonic HPSE NA nonsynonymous SNV HPSE:NM_001199830:exon6:c.A746G:p.K249R,HPSE:NM_001098540:exon7:c.A920G:p.K307R,HPSE:NM_001166498:exon8:c.A920G:p.K307R,HPSE:NM_006665:exon8:c.A920G:p.K307R exonic ENSG00000173083 NA nonsynonymous SNV ENSG00000173083:ENST00000513463:exon6:c.A746G:p.K249R,ENSG00000173083:ENST00000311412:exon7:c.A920G:p.K307R,ENSG00000173083:ENST00000405413:exon8:c.A920G:p.K307R,ENSG00000173083:ENST00000509906:exon8:c.A920G:p.K307R,ENSG00000173083:ENST00000512196:exon8:c.A920G:p.K307R Score=445;Name=lod=86 NA 4q21.23 NA NA NA NA rs11099592 0.81 0.81 0.832 0.813299 0.7495 0.87 0.6787 0.8767 0.8303 0.77 0.85 0.73 0.87 0.7844 0.88 0.36 T 0.035 B 0.046 B 0.019 N 1.000 P 1.5 L 1.53 T -0.988 T 0.000 T 0.039 0.063 4.345 4.83 2.141 3.927 7.801 0.063429 NA 0.81 0.77333 0.848024 ID=COSM1131015;OCCURENCE=1(prostate) 0.797 NA 9.0261034 757 20 25398790 25398790 G A exonic GINS1 NA nonsynonymous SNV GINS1:NM_021067:exon4:c.G289A:p.V97I exonic ENSG00000101003 NA nonsynonymous SNV ENSG00000101003:ENST00000262460:exon4:c.G289A:p.V97I,ENSG00000101003:ENST00000429262:exon4:c.G289A:p.V97I Score=516;Name=lod=166 NA 20p11.21 Score=883;Name=V$CEBP_C NA NA NA rs6076347 0.25 0.25 0.228 0.23103 0.4592 0.0069 0.4035 0.0908 0.2945 0.45 0.01 0.42 0.09 0.3791 0.47 0.6 T 0.002 B 0.002 B 0.001 N 0.047 P 0.13 N 0.87 T -0.906 T 0.000 T 0.035 -0.499 1.713 0.267 0.043 3.032 11.495 -0.498511 NA 1 0.469651 0.156832 ID=COSM1410878;OCCURENCE=1(large_intestine) 0.297 NA 9.0253824 758 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 758 6 130154686 130154686 A G exonic TMEM244 NA nonsynonymous SNV TMEM244:NM_001010876:exon4:c.T238C:p.F80L exonic ENSG00000203756 NA nonsynonymous SNV ENSG00000203756:ENST00000368143:exon4:c.T238C:p.F80L,ENSG00000203756:ENST00000438392:exon5:c.T238C:p.F80L Score=506;Name=lod=152 NA 6q22.33 NA NA Name=3 NA rs4629709 0.61 0.61 0.635 0.614217 0.7744 0.3611 0.5101 0.6687 0.7106 0.77 0.35 0.57 0.68 0.715 0.82 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.32 N 1.39 T -0.952 T 0.008 T 0.07 0.247 5.332 4.8 1.147 0.230 7.739 0.246588 NA 1 0.819186 0.694961 NA 0.667 NA 9.0247474 758 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 758 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 758 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 758 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 759 12 95694111 95694111 T G exonic VEZT NA nonsynonymous SNV VEZT:NM_017599:exon12:c.T2002G:p.S668A exonic ENSG00000028203 NA nonsynonymous SNV ENSG00000028203:ENST00000436874:exon12:c.T2002G:p.S668A,ENSG00000028203:ENST00000261219:exon13:c.T1858G:p.S620A,ENSG00000028203:ENST00000397792:exon13:c.T1870G:p.S624A NA NA 12q22 NA NA NA NA rs17855934 0.07 0.07 0.058 0.0734824 0.1074 0.001 0.0908 0.0885 0.0808 0.11 0.0017 0.1 0.07 0.107 0.11 0.29 T 0.001 B 0.0 B 0.004 N 1.000 P 0.345 N 2.54 T -1.004 T 0.000 T 0.043 -0.315 2.5 4.15 0.872 0.984 6.624 -0.315303 NA 0.3 0.104961 0.077194 NA 0.058 NA 9.0139724 759 9 117808785 117808785 T A exonic TNC NA nonsynonymous SNV TNC:NM_002160:exon17:c.A5029T:p.I1677L exonic ENSG00000041982 NA nonsynonymous SNV ENSG00000041982:ENST00000346706:exon11:c.A3391T:p.I1131L,ENSG00000041982:ENST00000535648:exon12:c.A3664T:p.I1222L,ENSG00000041982:ENST00000542877:exon12:c.A3940T:p.I1314L,ENSG00000041982:ENST00000340094:exon13:c.A3937T:p.I1313L,ENSG00000041982:ENST00000341037:exon14:c.A4483T:p.I1495L,ENSG00000041982:ENST00000350763:exon17:c.A5029T:p.I1677L Score=634;Name=lod=504 NA 9q33.1 NA NA NA NA rs2104772 0.48 0.48 0.464 0.48103 0.4503 0.4514 0.4755 0.6006 0.3855 0.44 0.45 0.44 0.59 0.4385 0.59 1 T 0.004 B 0.032 B 0.000 D 0.000 P 1.625 L 0.64 T -0.922 T 0.000 T 0.365 0.368 5.997 3.42 0.435 0.633 8.629 0.367903 NA 0.46 0.430814 0.563323 NA 0.507 NA 9.0137194 759 2 170367099 170367099 G A exonic KLHL41 NA nonsynonymous SNV KLHL41:NM_006063:exon1:c.G811A:p.A271T exonic ENSG00000239474 NA nonsynonymous SNV ENSG00000239474:ENST00000284669:exon1:c.G811A:p.A271T NA NA 2q31.1 NA NA NA NA rs28763868 0.06 0.06 0.069 0.0597045 0.1213 0.0149 0.0591 0.0242 0.091 0.11 0.01 0.07 0.03 0.0874 0.11 0.51 T 0.003 B 0.008 B 0.012 N 0.989 P 0 N -0.67 T -1.085 T 0.004 T 0.004 -2.147 0.005 2.57 0.264 2.976 10.982 -2.147019 NA 0.55 0.111512 0.041988 NA 0.101 NA 9.0131214 759 10 73533177 73533177 A G exonic C10orf54 NA nonsynonymous SNV C10orf54:NM_022153:exon1:c.T20C:p.L7P exonic ENSG00000107738 NA nonsynonymous SNV ENSG00000107738:ENST00000394957:exon1:c.T20C:p.L7P NA NA 10q22.1 NA Name=HEY1,Pol2-4H8,TAF1,POU2F2,Pol2,ZNF263,Pol2(b),TBP,Oct-2 NA NA rs3747862 0.3 0.3 0.271 0.329872 0.4264 0.1895 0.2997 0.2557 0.4969 0.41 0.18 0.34 0.23 0.4685 0.43 . . 0.0 B 0.0 B 0.550 N 1.000 P 0 N 0.87 T -0.901 T 0.000 T 0.063 -0.78 0.731 2.04 0.246 1.497 6.385 -0.780033 NA 0.11 0.426126 0.273355 NA 0.21 NA 9.0123074 759 18 43246156 43246156 G A exonic SLC14A2 NA nonsynonymous SNV SLC14A2:NM_007163:exon12:c.G1529A:p.R510Q,SLC14A2:NM_001242692:exon13:c.G1529A:p.R510Q exonic ENSG00000132874 NA nonsynonymous SNV ENSG00000132874:ENST00000255226:exon12:c.G1529A:p.R510Q,ENSG00000132874:ENST00000586448:exon13:c.G1529A:p.R510Q NA NA 18q12.3 Score=863;Name=V$ELK1_02 NA Name=10 NA rs9960464 0.38 0.38 0.364 0.373403 0.4314 0.3423 0.4712 0.2867 0.3937 0.44 0.34 0.48 0.28 0.4424 0.48 0.6 T 0.0 B 0.0 B 0.386 N 1.000 P -1.39 N 1.45 T -0.954 T 0.000 T 0.037 0.668 7.576 -11.7 -1.612 -0.763 6.734 0.667826 NA 0.35 0.447442 0.328189 ID=COSM148424;OCCURENCE=1(stomach) 0.355 NA 9.0120914 759 11 404317 404317 C T exonic PKP3 NA synonymous SNV PKP3:NM_007183:exon12:c.C2352T:p.F784F exonic ENSG00000184363 NA synonymous SNV ENSG00000184363:ENST00000331563:exon12:c.C2352T:p.F784F Score=420;Name=lod=68 NA 11p15.5 Score=967;Name=V$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 759 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 759 11 76751166 76751166 G A exonic B3GNT6 NA nonsynonymous SNV B3GNT6:NM_138706:exon2:c.G571A:p.A191T exonic ENSG00000198488 NA nonsynonymous SNV ENSG00000198488:ENST00000354301:exon2:c.G571A:p.A191T,ENSG00000198488:ENST00000533140:exon2:c.G571A:p.A191T,ENSG00000198488:ENST00000421061:exon4:c.G304A:p.A102T NA NA 11q13.5 NA NA Name=4 NA rs73493606 0.18 0.18 0.166 0.190495 0.0954 0.1825 0.111 0.3608 0.1227 0.1 0.18 0.11 0.35 0.1283 0.35 0.54 T 0.004 B 0.012 B 0.556 N 1.000 P 0.08 N 1.01 T -0.962 T 0.000 T 0.031 0.579 7.128 1.11 0.260 -1.882 3.199 0.579304 NA 0.64 0.099602 0.322096 NA 0.101 NA 9.0100314 759 5 79815658 79815658 T C exonic FAM151B NA nonsynonymous SNV FAM151B:NM_205548:exon4:c.T464C:p.I155T exonic ENSG00000152380 NA nonsynonymous SNV ENSG00000152380:ENST00000282226:exon4:c.T464C:p.I155T Score=467;Name=lod=105 NA 5q14.1 NA NA NA NA rs369998 0.74 0.74 0.749 0.733427 0.7863 0.6062 0.6974 0.8253 0.7117 0.78 0.63 0.71 0.83 0.7495 0.83 0.65 T 0.0 B 0.0 B 0.001 N 1.000 P -2.075 N 2.88 T -1.014 T 0.000 T 0.037 -0.03 3.859 5.76 1.438 1.174 10.351 -0.030272 NA 1 0.787558 0.827735 NA 0.659 NA 9.0099754 759 16 27356203 27356203 A G exonic IL4R NA nonsynonymous SNV IL4R:NM_001257406:exon4:c.A223G:p.I75V,IL4R:NM_000418:exon5:c.A223G:p.I75V,IL4R:NM_001257407:exon5:c.A178G:p.I60V exonic ENSG00000077238 NA nonsynonymous SNV ENSG00000077238:ENST00000170630:exon3:c.A223G:p.I75V,ENSG00000077238:ENST00000543915:exon4:c.A223G:p.I75V,ENSG00000077238:ENST00000566117:exon4:c.A223G:p.I75V,ENSG00000077238:ENST00000566318:exon4:c.A223G:p.I75V,ENSG00000077238:ENST00000380922:exon5:c.A178G:p.I60V,ENSG00000077238:ENST00000395762:exon5:c.A223G:p.I75V,ENSG00000077238:ENST00000449195:exon5:c.A223G:p.I75V,ENSG00000077238:ENST00000563002:exon5:c.A223G:p.I75V NA NA 16p12.1 Score=770;Name=V$ARNT_02 NA Name=6 NA rs1805010 0.47 0.47 0.476 0.45647 0.4254 0.5159 0.4251 0.4811 0.4162 0.42 0.52 0.46 0.49 0.4512 0.52 1 T 0.0 B 0.001 B 0.381 N 1.000 P -1.04 N 2.19 T -0.941 T 0.000 T 0.086 -1.49 0.017 0.172 -0.161 -0.173 6.320 -1.489913 NA 1 0.448023 0.498179 NA 0.42 CLINSIG=other|other;CLNDBN=Asthma\x2c_atopic|Acquired_immunodeficiency_syndrome\x2c_slow_progression_to;CLNREVSTAT=single|single;CLNACC=RCV000015776.1|RCV000015777.1;CLNDSDB=MedGen|.;CLNDSDBID=C0155877|. 9.0087104 759 3 141535558 141535558 A G exonic GRK7 NA nonsynonymous SNV GRK7:NM_139209:exon4:c.A1328G:p.E443G exonic ENSG00000114124 NA nonsynonymous SNV ENSG00000114124:ENST00000264952:exon4:c.A1328G:p.E443G NA NA 3q23 NA NA NA NA rs36009541 0.07 0.07 0.061 0.0561102 0.1054 0.0139 0.0663 0.0522 0.047 0.11 0.01 0.09 0.07 0.0952 0.13 1 T 0.003 B 0.005 B 0.013 N 1.000 P -0.235 N -0.43 T -1.053 T 0.001 T 0.052 0.275 5.489 5.4 2.052 0.459 5.923 0.275185 NA 0.13 0.12593 0.064911 NA 0.08 NA 9.0068034 759 2 202410300 202410300 A T exonic ALS2CR11 NA nonsynonymous SNV ALS2CR11:NM_001168216:exon11:c.T1128A:p.H376Q,ALS2CR11:NM_001168217:exon11:c.T1128A:p.H376Q,ALS2CR11:NM_001168221:exon11:c.T1128A:p.H376Q,ALS2CR11:NM_152525:exon11:c.T1128A:p.H376Q exonic ENSG00000155754 NA nonsynonymous SNV ENSG00000155754:ENST00000286195:exon11:c.T1128A:p.H376Q,ENSG00000155754:ENST00000439140:exon11:c.T1128A:p.H376Q,ENSG00000155754:ENST00000439802:exon11:c.T1128A:p.H376Q,ENSG00000155754:ENST00000450242:exon11:c.T1128A:p.H376Q NA NA 2q33.1 NA NA NA NA rs10804117 0.51 0.51 0.47 0.513578 0.4553 0.7569 0.5648 0.3162 0.5532 0.45 0.75 0.51 0.35 0.4651 0.75 0.7 T 0.0 B 0.0 B 0.003 N 1.000 P -0.69 N 1.08 T -0.989 T 0.000 T 0.044 -0.988 0.278 -6.45 -1.938 -1.669 0.481 -0.988199 NA 0.66 0.407204 0.334923 NA 0.493 NA 9.0057294 759 3 48360992 48360992 T G exonic SPINK8 NA nonsynonymous SNV SPINK8:NM_001080525:exon3:c.A234C:p.K78N exonic ENSG00000229453 NA nonsynonymous SNV ENSG00000229453:ENST00000434006:exon3:c.A234C:p.K78N Score=325;Name=lod=28 NA 3p21.31 NA NA NA NA rs11718350 0.17 0.17 0.157 0.16853 0.2843 0.123 0.1772 0.0318 0.2751 0.28 0.11 0.19 0.04 0.2411 0.3 0.43 T 0.818 P 0.305 B . . 1.000 P . . -0.91 T -1.083 T 0.000 T 0.039 1.89 12.28 2.39 0.729 0.234 6.984 1.889555 1.889555 0.65 0.302785 0.059854 NA 0.174 NA 9.0051484 760 12 12496086 12496086 C T exonic MANSC1 NA nonsynonymous SNV MANSC1:NM_018050:exon2:c.G163A:p.V55I exonic ENSG00000111261 NA nonsynonymous SNV ENSG00000111261:ENST00000535902:exon2:c.G163A:p.V55I,ENSG00000111261:ENST00000396349:exon3:c.G61A:p.V21I,ENSG00000111261:ENST00000543314:exon3:c.G163A:p.V55I NA NA 12p13.2 Score=801;Name=V$CHX10_01 NA NA NA rs3741798 0.1 0.1 0.094 0.0800719 0.1163 0.0764 0.0879 0.0772 0.045 0.1 0.1 0.1 0.09 0.0971 0.12 1 T 0.0 B 0.001 B 0.474 N 1.000 P -1.265 N 1.99 T -0.990 T 0.000 T 0.098 -1.326 0.032 -2.16 -0.402 -0.418 10.669 -1.326428 NA 1 0.115465 0.09419 NA 0.072 NA 9.0044684 760 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 760 22 36684358 36684358 C A exonic MYH9 NA synonymous SNV MYH9:NM_002473:exon34:c.G4872T:p.A1624A exonic ENSG00000100345 NA synonymous SNV ENSG00000100345:ENST00000216181:exon34:c.G4872T:p.A1624A Score=576;Name=lod=293 NA 22q12.3 NA Name=ZEB1_(SC-25388) Name=16 NA rs2269530 0.28 0.28 0.25 0.29373 0.2078 0.5952 0.2118 0.0416 0.4703 0.19 0.62 0.22 0.08 0.2582 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119806 NA NA 0.198023 0.071493 NA 0.188 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037562.1;CLNDSDB=.;CLNDSDBID=. 9.0026436 760 6 49701439 49701439 C A exonic CRISP3 NA nonsynonymous SNV CRISP3:NM_001190986:exon5:c.G469T:p.A157S,CRISP3:NM_006061:exon5:c.G439T:p.A147S exonic ENSG00000096006 NA nonsynonymous SNV ENSG00000096006:ENST00000423399:exon3:c.G130T:p.A44S,ENSG00000096006:ENST00000393666:exon4:c.G400T:p.A134S,ENSG00000096006:ENST00000263045:exon5:c.G439T:p.A147S,ENSG00000096006:ENST00000354620:exon5:c.G469T:p.A157S,ENSG00000096006:ENST00000371159:exon5:c.G493T:p.A165S,ENSG00000096006:ENST00000433368:exon5:c.G469T:p.A157S NA NA 6p12.3 NA NA Name=5 NA rs1864312 0.4 0.4 0.349 0.365615 0.4682 0.3105 0.5821 0.2579 0.3088 0.47 0.32 0.57 0.26 0.4264 0.57 0.8 T 0.177 B 0.135 B 0.684 U 1.000 P -0.21 N 3.23 T -0.959 T 0.004 T 0.52 0.593 7.197 3.18 1.146 0.738 7.810 0.592611 NA 0.78 0.436512 0.300045 NA 0.304 NA 9.0022214 760 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 760 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=CTCF,c-Myc 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 760 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 760 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 760 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 760 10 116719543 116719543 G A exonic TRUB1 NA nonsynonymous SNV TRUB1:NM_139169:exon4:c.G500A:p.R167K exonic ENSG00000165832 NA nonsynonymous SNV ENSG00000165832:ENST00000298746:exon4:c.G500A:p.R167K Score=469;Name=lod=107 NA 10q25.3 NA NA NA NA rs7099565 0.39 0.39 0.411 0.422724 0.4503 0.0367 0.2968 0.7844 0.3926 0.46 0.04 0.31 0.74 0.4248 0.74 1 T 0.0 B 0.002 B 0.000 N 1.000 P -0.735 N 0.81 T -0.928 T 0.000 T 0.017 0.187 5.009 4.56 0.440 1.997 8.283 0.18741 NA 1 0.46093 0.738538 NA 0.442 NA 8.9973034 760 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 761 11 74559446 74559446 G C exonic XRRA1 NA nonsynonymous SNV XRRA1:NM_001270380:exon12:c.C1157G:p.T386R,XRRA1:NM_001270381:exon12:c.C593G:p.T198R,XRRA1:NM_182969:exon15:c.C1418G:p.T473R exonic ENSG00000166435 NA nonsynonymous SNV ENSG00000166435:ENST00000530562:exon10:c.C86G:p.T29R,ENSG00000166435:ENST00000321448:exon12:c.C593G:p.T198R,ENSG00000166435:ENST00000527087:exon12:c.C1157G:p.T386R,ENSG00000166435:ENST00000340360:exon15:c.C1418G:p.T473R NA NA 11q13.4 NA NA NA NA rs4944960 0.34 0.34 0.293 0.282947 0.2843 0.5089 0.4885 0.1452 0.089 0.29 0.53 0.44 0.14 0.2914 0.53 0.63 T 0.985 D 0.789 P 0.422 N 1.000 P 1.61 L 1.48 T -0.932 T 0.000 T 0.134 2.302 13.66 -4.08 -0.876 -0.008 0.249 2.302324 2.302324 0.15 0.262736 0.160766 NA 0.196 NA 8.9948974 761 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 761 19 9047267 9047267 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon5:c.G34364A:p.G11455D exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon5:c.G34364A:p.G11455D NA NA 19p13.2 NA NA NA NA rs10410169 0.19 0.19 0.189 0.189497 0.2823 0.0258 0.1988 0.1982 0.2444 0.29 0.02 0.21 0.21 0.2585 0.3 0 D 0.536 P 0.297 B . . . . 1.355 L 3.54 T -0.896 T 0.000 T 0.089 0.676 7.617 0.877 0.307 -1.197 5.024 0.676019 NA 0.08 0.302275 0.187097 NA 0.268 NA 8.9902584 761 19 871987 871987 G A exonic MED16 NA synonymous SNV MED16:NM_005481:exon12:c.C2037T:p.T679T exonic ENSG00000175221 NA synonymous SNV ENSG00000175221:ENST00000589119:exon11:c.C2037T:p.T679T,ENSG00000175221:ENST00000312090:exon12:c.C2037T:p.T679T,ENSG00000175221:ENST00000325464:exon12:c.C2037T:p.T679T,ENSG00000175221:ENST00000395808:exon12:c.C2037T:p.T679T Score=584;Name=lod=315 NA 19p13.3 Score=780;Name=V$PPARG_03 Name=Pol2,GR Name=20 NA rs78047294 0.18 0.18 0.176 0.173123 0.2346 0.0228 0.1744 0.2821 0.1166 0.24 0.02 0.19 0.27 0.2007 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.32005 1.32005 NA 0.241758 0.251958 NA 0.232 NA 8.9896086 762 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 762 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 762 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 762 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 763 19 16275655 16275655 C T exonic CIB3 NA nonsynonymous SNV CIB3:NM_054113:exon5:c.G416A:p.G139E exonic ENSG00000141977 NA nonsynonymous SNV ENSG00000141977:ENST00000379859:exon3:c.G269A:p.G90E,ENSG00000141977:ENST00000269878:exon5:c.G416A:p.G139E Score=415;Name=lod=65 NA 19p13.12 Score=711;Name=V$HOX13_01 NA NA NA rs6512087 0.81 0.81 0.779 0.770966 0.7763 0.9593 0.83 0.5893 0.7751 0.77 0.95 0.8 0.69 0.7919 0.95 0.75 T 0.0 B 0.001 B 0.000 N 0.000 P -1.16 N 2.98 T -0.966 T 0.000 T 0.21 -0.844 0.563 4.78 0.798 6.024 9.957 -0.844331 NA 1 0.79093 0.701316 NA 0.725 NA 8.9742034 763 22 50716167 50716167 G A exonic PLXNB2 NA synonymous SNV PLXNB2:NM_012401:exon33:c.C5049T:p.S1683S exonic ENSG00000196576 NA synonymous SNV ENSG00000196576:ENST00000359337:exon33:c.C5049T:p.S1683S,ENSG00000196576:ENST00000449103:exon33:c.C5049T:p.S1683S Score=355;Name=lod=37 NA 22q13.33 NA NA NA NA rs1127000 0.51 0.51 0.459 0.497404 0.5726 0.6062 0.4755 0.2678 0.6339 0.58 0.61 0.46 0.31 0.556 0.61 0 D . . . . . . 0.000 P . . . . -0.964 T 0.000 T . -0.726 0.889 -4.29 -1.211 0.078 14.262 -0.726124 NA NA 0.564467 0.29804 NA 0.377 NA 8.9735996 763 15 33954652 33954652 C T exonic RYR3 NA nonsynonymous SNV RYR3:NM_001036:exon35:c.C4921T:p.R1641C,RYR3:NM_001243996:exon35:c.C4921T:p.R1641C exonic ENSG00000198838 NA nonsynonymous SNV ENSG00000198838:ENST00000389232:exon35:c.C4921T:p.R1641C,ENSG00000198838:ENST00000415757:exon35:c.C4921T:p.R1641C Score=472;Name=lod=110 NA 15q14 Score=887;Name=V$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 763 6 153323594 153323594 C T exonic MTRF1L NA nonsynonymous SNV MTRF1L:NM_001114184:exon1:c.G227A:p.R76Q,MTRF1L:NM_019041:exon1:c.G227A:p.R76Q exonic ENSG00000112031 NA nonsynonymous SNV ENSG00000112031:ENST00000367230:exon1:c.G227A:p.R76Q,ENSG00000112031:ENST00000367231:exon1:c.G227A:p.R76Q,ENSG00000112031:ENST00000367233:exon1:c.G227A:p.R76Q Score=443;Name=lod=84 NA 6q25.2 NA Name=Pol2 NA NA rs3818123 0.66 0.66 0.64 NA NA NA NA NA NA 0.7 0.5 0.73 0.72 0.679 0.73 1 T 0.0 B 0.001 B 0.387 N 0.972 P 0 N 2.81 T -0.908 T 0.004 T 0.031 -0.802 0.672 -1.77 -0.841 -2.545 13.137 -0.801645 NA 1 0.681163 0.709487 NA 0.645 NA 8.9731704 763 1 245704130 245704130 G C exonic KIF26B NA nonsynonymous SNV KIF26B:NM_018012:exon5:c.G1228C:p.A410P exonic ENSG00000162849 NA nonsynonymous SNV ENSG00000162849:ENST00000366518:exon2:c.G85C:p.A29P,ENSG00000162849:ENST00000407071:exon5:c.G1228C:p.A410P NA NA 1q44 NA NA NA NA rs61754898 0.14 0.14 0.144 0.126997 0.1292 0.2262 0.1744 0.0091 0.1483 0.14 0.24 0.16 0.01 0.1246 0.24 0.58 T 0.01 B 0.006 B . . 1.000 P 0.2 N -1.09 T -1.110 T 0.000 T 0.115 -0.212 2.974 3.53 0.632 3.501 11.029 -0.21187 NA 0.22 0.106611 0.023733 ID=COSM146847;OCCURENCE=1(stomach) 0.123 NA 8.9729224 763 1 207857254 207857254 A G exonic CR1L NA nonsynonymous SNV CR1L:NM_175710:exon4:c.A415G:p.I139V exonic ENSG00000197721 NA nonsynonymous SNV ENSG00000197721:ENST00000294997:exon3:c.A247G:p.I83V,ENSG00000197721:ENST00000508064:exon4:c.A415G:p.I139V NA NA 1q32.2 NA NA NA NA rs3085 0.15 0.15 0.137 0.161142 0.1083 0.3601 0.0648 0.0189 0.271 0.11 0.35 0.06 0.03 0.139 0.35 0.41 T 0.005 B 0.066 B . . 1.000 P 1.185 L 1.9 T -0.900 T 0.000 T 0.173 1.099 9.486 -3.99 -0.487 -2.954 5.644 1.099475 NA 0.16 0.113674 0.035162 NA 0.101 NA 8.9723594 763 19 9074950 9074950 G T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.C12496A:p.H4166N exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C12496A:p.H4166N NA NA 19p13.2 NA NA NA NA rs2591591 0.24 0.24 0.238 0.238618 0.3121 0.249 0.2104 0.1649 0.272 0.31 0.21 0.24 0.19 0.26 0.31 0 D 0.478 P 0.048 B . . . . 0.55 N 2.03 T -0.941 T 0.000 T 0.027 0.204 5.1 -2.4 -0.632 -0.296 5.189 0.204049 NA 0.31 0.289076 0.181864 NA 0.239 NA 8.9721574 763 10 73501556 73501556 G A exonic CDH23 NA nonsynonymous SNV CDH23:NM_022124:exon36:c.G4723A:p.A1575T exonic ENSG00000107736 NA nonsynonymous SNV ENSG00000107736:ENST00000224721:exon37:c.G4738A:p.A1580T Score=531;Name=lod=192 NA 10q22.1 NA NA NA NA rs1227051 0.75 0.75 0.723 0.728834 0.7903 0.8254 0.6902 0.5582 0.8241 0.8 0.85 0.72 0.56 0.7752 0.85 0.61 T 0.0 B 0.0 B 0.000 N 0.000 P . . . . -0.999 T 0.000 T 0.093 0.055 4.299 5.09 0.798 6.202 10.883 0.054691 NA 1 0.796028 0.633941 NA 0.674 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039189.1;CLNDSDB=.;CLNDSDBID=. 8.9718054 763 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 763 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 763 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 763 11 5221825 5221825 G A exonic OR51V1 NA nonsynonymous SNV OR51V1:NM_001004760:exon1:c.C106T:p.L36F exonic ENSG00000176742 NA nonsynonymous SNV ENSG00000176742:ENST00000321255:exon1:c.C106T:p.L36F NA NA 11p15.4 NA NA NA NA rs11036212 0.63 0.63 0.616 0.596645 0.8151 0.4921 0.6628 0.5106 0.5491 0.81 0.48 0.68 0.48 0.722 0.83 0.05 D 0.001 B 0.005 B 0.900 N 1.000 P 1.115 L 6.64 T -0.968 T 0.000 T 0.033 1.665 11.53 -9.76 -3.689 -3.166 5.556 1.665392 1.665392 0.09 0.827478 0.539755 NA 0.674 NA 8.9687554 763 11 62931484 62931484 T C exonic SLC22A25 NA nonsynonymous SNV SLC22A25:NM_199352:exon9:c.A1456G:p.M486V exonic ENSG00000196600 NA nonsynonymous SNV ENSG00000196600:ENST00000306494:exon9:c.A1456G:p.M486V NA NA 11q12.3 NA NA NA NA rs6591771 0.51 0.51 0.512 0.543131 0.4473 0.5337 0.5 0.6377 0.5542 0.43 0.58 0.41 0.6 0.4811 0.62 0.77 T 0.001 B 0.002 B 0.465 N 1.000 P -1.445 N 0.53 T -1.030 T 0.000 T 0.028 -1.521 0.016 -9.12 -4.095 -2.285 3.357 -1.521232 NA 0.32 0.436482 0.621536 NA 0.522 NA 8.9684514 763 14 52507429 52507429 A G exonic NID2 NA nonsynonymous SNV NID2:NM_007361:exon8:c.T1966C:p.S656P exonic ENSG00000087303 NA nonsynonymous SNV ENSG00000087303:ENST00000216286:exon8:c.T1966C:p.S656P,ENSG00000087303:ENST00000541773:exon9:c.T1807C:p.S603P Score=313;Name=lod=25 NA 14q22.1 Score=716;Name=V$LUN1_01 NA NA NA rs3742536 0.84 0.84 0.843 0.858027 0.7863 0.8522 0.7882 0.9213 0.9018 0.81 0.82 0.78 0.94 0.8104 0.94 1 T 0.0 B 0.002 B 0.000 N 0.984 P -2.265 N 2.24 T -0.969 T 0.000 T 0.107 0.721 7.836 5.06 0.866 5.946 12.582 0.720925 NA 1 0.768953 0.885837 NA 0.848 NA 8.9676804 763 8 17612875 17612875 A G exonic MTUS1 NA nonsynonymous SNV MTUS1:NM_001001924:exon2:c.T442C:p.C148R,MTUS1:NM_001001925:exon2:c.T442C:p.C148R exonic ENSG00000129422 NA nonsynonymous SNV ENSG00000129422:ENST00000519263:exon1:c.T442C:p.C148R,ENSG00000129422:ENST00000262102:exon2:c.T442C:p.C148R,ENSG00000129422:ENST00000381862:exon2:c.T442C:p.C148R,ENSG00000129422:ENST00000381869:exon2:c.T442C:p.C148R NA NA 8p22 NA Name=GATA3_(SC-268),Rad21,CTCF NA NA rs3739407 0.69 0.69 0.664 0.710264 0.8022 0.6756 0.7003 0.5643 0.8558 0.81 0.65 0.68 0.56 0.7749 0.81 . . 0.899 P 0.667 P 0.655 N 1.000 P 0.805 L 2.18 T -0.980 T 0.000 T 0.1 1.513 11.01 -2.94 -0.517 1.006 5.379 1.513019 1.513019 0.15 0.790602 0.595648 NA 0.616 NA 8.9656314 764 9 134350323 134350323 C G exonic PRRC2B NA nonsynonymous SNV PRRC2B:NM_013318:exon15:c.C2807G:p.T936S exonic ENSG00000130723 NA nonsynonymous SNV ENSG00000130723:ENST00000357304:exon15:c.C2807G:p.T936S Score=459;Name=lod=98 NA 9q34.13 NA NA NA NA rs10736851 0.76 0.76 0.749 0.769569 0.7654 0.9395 0.7478 0.5257 0.9438 0.77 0.94 0.77 0.54 0.7965 0.94 . . 0.051 B 0.008 B . . 0.000 P 0.345 N 2.94 T -1.030 T 0.000 T 0.026 1.961 12.51 4.69 1.321 1.269 13.941 1.960869 1.960869 0.05 0.807355 0.593999 NA 0.739 NA 8.9640784 764 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 764 4 40356422 40356422 A G exonic CHRNA9 NA nonsynonymous SNV CHRNA9:NM_017581:exon5:c.A1325G:p.N442S exonic ENSG00000174343 NA nonsynonymous SNV ENSG00000174343:ENST00000310169:exon5:c.A1325G:p.N442S NA NA 4p14 NA Name=MafK_(ab50322) NA NA rs10009228 0.76 0.76 0.744 0.745008 0.7753 0.8492 0.6816 0.6445 0.7873 0.79 0.84 0.72 0.66 0.7837 0.84 0.56 T 0.0 B 0.003 B 0.675 N 1.000 P 0.08 N -1.63 D -0.955 T 0.000 T 0.027 0.033 4.186 3.09 0.932 1.302 7.016 0.033188 NA 0.86 0.812093 0.671357 NA 0.674 NA 8.9622404 764 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 764 10 90342837 90342837 C G exonic RNLS NA nonsynonymous SNV RNLS:NM_001031709:exon1:c.G111C:p.E37D,RNLS:NM_018363:exon1:c.G111C:p.E37D exonic ENSG00000184719 NA nonsynonymous SNV ENSG00000184719:ENST00000331772:exon1:c.G111C:p.E37D,ENSG00000184719:ENST00000371947:exon1:c.G111C:p.E37D,ENSG00000184719:ENST00000437752:exon1:c.G111C:p.E37D Score=441;Name=lod=83 NA 10q23.31 NA Name=YY1,TAF1,Pol2-4H8,Pol2,HA-E2F1 Name=116 NA rs2296545 0.47 0.47 0.481 0.478235 0.4771 0.4484 0.3948 0.5408 0.4847 0.48 0.41 0.43 0.56 0.46 0.56 0.07 T 0.425 B 0.121 B 0.003 N 0.995 P -0.22 N 3.44 T -0.917 T 0.000 T 0.059 2.272 13.55 -0.832 0.119 -0.518 6.914 2.271614 2.271614 0.2 0.434302 0.537222 NA 0.522 NA 8.9619314 764 1 179876988 179876988 C G exonic TOR1AIP1 NA nonsynonymous SNV TOR1AIP1:NM_001267578:exon7:c.C830G:p.P277R,TOR1AIP1:NM_015602:exon7:c.C827G:p.P276R exonic ENSG00000143337 NA nonsynonymous SNV ENSG00000143337:ENST00000271583:exon7:c.C830G:p.P277R,ENSG00000143337:ENST00000435319:exon7:c.C827G:p.P276R,ENSG00000143337:ENST00000528443:exon7:c.C830G:p.P277R NA NA 1q25.2 NA NA NA NA rs609521 0.59 0.59 0.587 0.584065 0.6093 0.7778 0.6715 0.3041 0.6748 0.61 0.79 0.65 0.3 0.6329 0.79 . . 0.81 P 0.327 B 0.872 N 1.000 P 1.7 L 0.96 T -0.981 T 0.000 T 0.192 1.467 10.85 3.81 1.187 1.705 10.068 1.466776 1.466776 0.1 0.629419 0.366092 NA 0.623 NA 8.9617144 764 6 31474000 31474000 G A exonic MICB NA nonsynonymous SNV MICB:NM_005931:exon3:c.G406A:p.D136N exonic ENSG00000204516 NA nonsynonymous SNV ENSG00000204516:ENST00000252229:exon3:c.G406A:p.D136N,ENSG00000204516:ENST00000538442:exon3:c.G310A:p.D104N NA NA 6p21.33 NA NA NA NA rs1051788 0.28 0.28 0.286 0.282548 0.2624 0.2738 0.1902 0.3835 0.2413 0.28 0.22 0.21 0.4 0.3027 0.4 0.05 D 0.697 P 0.165 B 0.180 N 1.000 P 2.45 M 4.35 T -0.936 T 0.003 T 0.046 0.424 6.301 -0.599 -0.172 0.640 3.626 0.423715 NA 0.3 0.306785 0.368077 NA 0.348 NA 8.9614484 764 6 159667961 159667961 T G exonic FNDC1 NA synonymous SNV FNDC1:NM_032532:exon15:c.T4650G:p.T1550T exonic ENSG00000164694 NA synonymous SNV ENSG00000164694:ENST00000340366:exon14:c.T4461G:p.T1487T,ENSG00000164694:ENST00000297267:exon15:c.T4650G:p.T1550T NA NA 6q25.3 Score=753;Name=V$TCF11MAFG_01 NA NA NA rs294911 0.18 0.18 0.144 0.160343 0.2396 0.0982 0.317 0.0363 0.1994 0.25 0.1 0.31 0.06 0.2294 0.31 . . . . . . . . 1.000 P . . . . -1.025 T 0.009 T . -0.035 3.832 -10.2 -1.951 -1.140 1.669 -0.035489 NA NA 0.236671 0.066131 NA 0.196 NA 8.9609956 764 9 139617626 139617626 G A exonic FAM69B NA synonymous SNV FAM69B:NM_152421:exon5:c.G696A:p.E232E exonic ENSG00000165716 NA synonymous SNV ENSG00000165716:ENST00000371691:exon3:c.G435A:p.E145E,ENSG00000165716:ENST00000371692:exon5:c.G696A:p.E232E Score=321;Name=lod=27 NA 9q34.3 Score=757;Name=V$TAXCREB_02 Name=Pol2,Pol2-4H8,ZBTB33,ZNF263 Name=57 NA rs7038042 0.25 0.25 0.23 0.257788 0.2256 0.1806 0.3069 0.3275 0.2413 0.24 0.16 0.3 0.35 0.2514 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608068 NA NA 0.230698 0.328416 NA 0.246 NA 8.9589686 764 11 58940278 58940278 G T exonic DTX4 NA synonymous SNV DTX4:NM_015177:exon1:c.G210T:p.T70T exonic ENSG00000110042 NA synonymous SNV ENSG00000110042:ENST00000227451:exon1:c.G210T:p.T70T Score=660;Name=lod=644 NA 11q12.1 Score=833;Name=V$PAX2_01 Name=CTCF,Pol2,Pol2-4H8,ZEB1_(SC-25388) Name=26 NA rs12796683 0.24 0.24 0.22 0.251997 0.2147 0.2679 0.3646 0.152 0.3292 0.22 0.3 0.3 0.14 0.2766 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.378921 NA NA 0.217204 0.156867 NA 0.232 NA 8.9581626 764 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 764 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 764 X 2161129 2161129 C G exonic DHRSX NA nonsynonymous SNV DHRSX:NM_145177:exon6:c.G739C:p.V247L exonic ENSG00000169084 NA nonsynonymous SNV ENSG00000169084:ENST00000412516:exon5:c.G670C:p.V224L,ENSG00000169084:ENST00000334651:exon6:c.G739C:p.V247L Score=618;Name=lod=435 NA Xp22.33 NA NA NA NA rs1127915 0.57 0.57 NA NA NA NA NA NA NA 0.65 0.23 0.65 0.79 0.6434 0.81 1 T 0.003 B 0.0 B 0.000 N 1.000 N -2.77 N 2.23 T -0.903 T 0.000 T 0.029 -1.749 0.01 1.45 -2.167 4.481 9.538 -1.749129 NA 1 0.73324 0.815025 NA 0.783 NA 8.9566934 764 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 764 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 765 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 765 3 19930130 19930130 A T exonic EFHB NA nonsynonymous SNV EFHB:NM_144715:exon10:c.T1739A:p.M580K exonic ENSG00000163576 NA nonsynonymous SNV ENSG00000163576:ENST00000295824:exon10:c.T1739A:p.M580K,ENSG00000163576:ENST00000344838:exon12:c.T1349A:p.M450K NA NA 3p24.3 NA Name=GATA-2 Name=13 NA rs76305623 0.1 0.1 0.105 0.119808 0.0974 0.0833 0.085 0.1233 0.2004 0.1 0.09 0.09 0.13 0.1609 0.14 . . 0.0 B 0.004 B 0.654 N 1.000 P -1.56 N -0.39 T -1.097 T 0.001 T 0.236 0.297 5.61 0.447 0.124 0.802 4.697 0.297219 NA 0.36 0.120116 0.109623 ID=COSM1318688,COSM1318689;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.145 NA 8.9549174 765 9 113538122 113538122 G A exonic MUSK NA nonsynonymous SNV MUSK:NM_001166281:exon8:c.G975A:p.M325I,MUSK:NM_001166280:exon9:c.G1005A:p.M335I,MUSK:NM_005592:exon9:c.G1239A:p.M413I exonic ENSG00000030304 NA nonsynonymous SNV ENSG00000030304:ENST00000374438:exon1:c.G13A:p.G5R,ENSG00000030304:ENST00000189978:exon9:c.G1239A:p.M413I,ENSG00000030304:ENST00000416899:exon9:c.G1239A:p.M413I,ENSG00000030304:ENST00000374448:exon10:c.G1239A:p.M413I Score=343;Name=lod=33 NA 9q31.3 NA NA NA NA rs2274419 0.1 0.1 0.099 0.100439 0.1252 0.1895 0.0389 0.0045 0.1564 0.12 0.21 0.04 0.01 0.121 0.21 0.69 T 0.0 B 0.0 B 0.053 N 0.000 P 0.55 N -0.6 T -1.097 T 0.000 T 0.128 0.311 5.688 1.08 0.259 0.809 7.386 0.311434 NA 0.31 0.13267 0.021888 NA 0.043 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117642.1;CLNDSDB=.;CLNDSDBID=. 8.9544634 765 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 765 22 44322970 44322970 G T exonic PNPLA3 NA nonsynonymous SNV PNPLA3:NM_025225:exon2:c.G343T:p.G115C exonic ENSG00000100344 NA nonsynonymous SNV ENSG00000100344:ENST00000216180:exon2:c.G343T:p.G115C,ENSG00000100344:ENST00000406117:exon2:c.G338T:p.R113M,ENSG00000100344:ENST00000423180:exon2:c.G331T:p.G111C NA NA 22q13.31 NA NA NA NA rs2076212 0.11 0.11 0.102 0.121805 0.1262 0.0694 0.1095 0.1513 0.1401 0.11 0.06 0.13 0.14 0.1216 0.16 0.31 T 0.0 B 0.0 B 0.149 N 1.000 P -0.585 N -1.08 T -1.099 T 0.001 T 0.09 -0.457 1.886 -6.85 -1.567 -0.199 6.188 -0.456571 NA 0.35 0.134302 0.158193 NA 0.123 NA 8.9512314 765 1 42693597 42693597 A G exonic FOXJ3 NA nonsynonymous SNV FOXJ3:NM_001198850:exon5:c.T485C:p.V162A,FOXJ3:NM_001198852:exon5:c.T485C:p.V162A,FOXJ3:NM_014947:exon5:c.T485C:p.V162A,FOXJ3:NM_001198851:exon7:c.T485C:p.V162A exonic ENSG00000198815 NA nonsynonymous SNV ENSG00000198815:ENST00000361346:exon5:c.T485C:p.V162A,ENSG00000198815:ENST00000361776:exon5:c.T485C:p.V162A,ENSG00000198815:ENST00000372573:exon5:c.T485C:p.V162A,ENSG00000198815:ENST00000445886:exon5:c.T485C:p.V162A,ENSG00000198815:ENST00000545068:exon5:c.T485C:p.V162A,ENSG00000198815:ENST00000372572:exon7:c.T485C:p.V162A Score=630;Name=lod=485 NA 1p34.2 NA NA NA NA rs343376 0.83 0.83 0.807 0.795327 0.7913 0.8482 0.8862 0.7632 0.7239 0.8 0.86 0.91 0.78 0.8034 0.91 0.51 T 0.0 B 0.0 B 0.038 N 0.000 P 0.125 N -3.71 D -0.924 T 0.000 T 0.091 1.685 11.59 3.81 0.345 4.028 9.486 1.684862 1.684862 0.52 0.790349 0.766682 NA 0.826 NA 8.9482844 765 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 765 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 765 19 12256912 12256912 C T exonic ZNF625 NA nonsynonymous SNV ZNF625:NM_145233:exon4:c.G319A:p.V107M exonic ENSG00000257591 NA nonsynonymous SNV ENSG00000257591:ENST00000355738:exon4:c.G121A:p.V41M,ENSG00000257591:ENST00000439556:exon4:c.G319A:p.V107M,ENSG00000257591:ENST00000542938:exon4:c.G121A:p.V41M NA NA 19p13.2 NA NA NA NA rs7258368 0.19 0.19 0.191 0.196885 0.1282 0.2133 0.1311 0.3011 0.1564 0.13 0.25 0.12 0.28 0.1501 0.28 0.17 T 0.122 B 0.005 B . . 1.000 P 0.345 N 2.41 T -0.939 T 0.000 T 0.035 -2.466 0.003 -1.71 -1.747 -1.382 2.852 -2.466354 NA 1 0.107558 0.279392 NA 0.232 NA 8.9474754 765 10 48370747 48370747 C T exonic ZNF488 NA nonsynonymous SNV ZNF488:NM_153034:exon2:c.C215T:p.A72V exonic ENSG00000165388 NA nonsynonymous SNV ENSG00000165388:ENST00000395702:exon2:c.C215T:p.A72V,ENSG00000165388:ENST00000425196:exon2:c.C215T:p.A72V,ENSG00000165388:ENST00000444585:exon2:c.C215T:p.A72V,ENSG00000165388:ENST00000412534:exon3:c.C215T:p.A72V,ENSG00000165388:ENST00000433077:exon3:c.C215T:p.A72V,ENSG00000165388:ENST00000436850:exon3:c.C215T:p.A72V NA NA 10q11.22 NA NA Name=2 NA rs35618062 0.09 0.09 0.083 0.0886581 0.1183 0.0724 0.0764 0.0666 0.1135 0.12 0.08 0.08 0.05 0.122 0.15 0.09 T 0.073 B 0.011 B 0.797 U 1.000 P 1.7 L 1.79 T -1.091 T 0.001 T 0.262 1.584 11.25 2.98 0.201 0.140 8.363 1.583609 1.583609 0.16 0.145649 0.088182 NA 0.072 NA 8.9473844 765 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 766 X 2779570 2779570 A G exonic GYG2 NA nonsynonymous SNV GYG2:NM_001184704:exon7:c.A380G:p.H127R,GYG2:NM_001079855:exon8:c.A845G:p.H282R,GYG2:NM_001184702:exon8:c.A845G:p.H282R,GYG2:NM_001184703:exon9:c.A938G:p.H313R,GYG2:NM_003918:exon9:c.A938G:p.H313R exonic ENSG00000056998 NA nonsynonymous SNV ENSG00000056998:ENST00000398806:exon8:c.A845G:p.H282R,ENSG00000056998:ENST00000338623:exon9:c.A938G:p.H313R,ENSG00000056998:ENST00000381163:exon9:c.A938G:p.H313R,ENSG00000056998:ENST00000542787:exon9:c.A938G:p.H313R NA NA Xp22.33 NA NA NA NA rs2306735 0.63 0.63 0.63911 NA NA NA NA NA NA 0.7 0.82 0.61 0.31 0.6678 0.82 0.43 T 0.0 B 0.001 B 0.000 N 1.000 P 0 N 1.39 T -0.930 T 0.000 T 0.155 -2.34 0.004 -2.43 -3.128 -1.460 0.392 -2.339894 NA 0.34 0.720636 0.365841 NA 0.428 NA 8.9448974 766 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 766 4 164435265 164435265 A C exonic TMA16 NA nonsynonymous SNV TMA16:NM_018352:exon4:c.A194C:p.Q65P exonic ENSG00000198498 NA nonsynonymous SNV ENSG00000198498:ENST00000358572:exon4:c.A194C:p.Q65P,ENSG00000198498:ENST00000508268:exon4:c.A194C:p.Q65P,ENSG00000198498:ENST00000513134:exon4:c.A194C:p.Q65P,ENSG00000198498:ENST00000513272:exon4:c.A194C:p.Q65P NA NA 4q32.2 NA NA NA NA rs2304802 0.41 0.41 0.322 0.379992 0.4682 0.3423 0.6009 0.2504 0.3466 0.48 0.34 0.6 0.25 0.4516 0.6 0.19 T 0.0 B 0.001 B 0.434 N 1.000 P 1.1 L 1.53 T -0.955 T 0.000 T 0.4 0.45 6.442 2.96 0.978 1.401 8.714 0.449727 NA 0.19 0.469195 0.267525 ID=COSM149752;OCCURENCE=1(stomach),1(prostate) 0.391 NA 8.9443384 766 1 201869257 201869257 G A exonic LMOD1 NA nonsynonymous SNV LMOD1:NM_012134:exon2:c.C884T:p.T295M exonic ENSG00000163431 NA nonsynonymous SNV ENSG00000163431:ENST00000367288:exon2:c.C884T:p.T295M NA NA 1q32.1 NA Name=PU.1 NA NA rs2820312 0.24 0.24 0.236 0.217851 0.3032 0.1012 0.2219 0.205 0.2648 0.32 0.11 0.25 0.27 0.279 0.32 0.28 T 0.947 P 0.132 B 0.220 N 1.000 P 0 N -3.03 D -1.046 T 0.000 T 0.063 1.305 10.27 0.581 -0.089 0.111 8.724 1.305016 1.305016 0.14 0.314135 0.206262 NA 0.174 NA 8.9369984 766 11 123777986 123777986 T C exonic OR8D4 NA nonsynonymous SNV OR8D4:NM_001005197:exon1:c.T848C:p.L283P exonic ENSG00000181518 NA nonsynonymous SNV ENSG00000181518:ENST00000321355:exon1:c.T848C:p.L283P Score=397;Name=lod=55 NA 11q24.1 NA NA NA NA rs7942047 0.83 0.83 0.829 0.807907 0.8042 0.7688 0.8718 0.8986 0.684 0.8 0.79 0.87 0.9 0.8015 0.9 1 T 0.0 B 0.0 B 0.000 N 0.031 P 0 N 1.52 T -0.967 T 0.000 T 0.036 0.008 4.054 5.67 1.406 4.735 13.818 0.007641 NA 1 0.790882 0.874432 NA 0.841 NA 8.9367514 766 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 767 4 159894391 159894391 G A exonic C4orf45 NA nonsynonymous SNV C4orf45:NM_152543:exon2:c.C137T:p.A46V exonic ENSG00000164123 NA nonsynonymous SNV ENSG00000164123:ENST00000434826:exon2:c.C137T:p.A46V NA NA 4q32.1 NA NA NA NA rs17037864 0.15 0.15 0.133 0.154553 0.1322 0.3333 0.0591 NA 0.2699 0.13 0.34 0.08 NA 0.1458 0.34 . . 0.009 B 0.003 B 0.823 N 1.000 P 1.175 L 2.45 T -0.906 T 0.000 T 0.035 -0.057 3.724 -4.88 -0.952 -0.894 7.175 -0.056991 NA 0.01 0.122154 0.028736 NA 0.138 NA 8.9331794 767 9 125391026 125391026 A C exonic OR1B1 NA nonsynonymous SNV OR1B1:NM_001004450:exon1:c.T789G:p.C263W exonic ENSG00000171484 NA nonsynonymous SNV ENSG00000171484:ENST00000304833:exon1:c.T789G:p.C263W Score=397;Name=lod=55 NA 9q33.2 NA NA NA NA rs1476858 0.75 0.75 0.733 0.752196 0.7913 0.9375 0.7651 0.4448 0.9274 0.8 0.94 0.74 0.45 0.8046 0.94 0 D 0.0 B 0.0 B 0.018 N 0.546 P 0.86 L 8.74 T -0.848 T 0.000 T 0.057 1.153 9.697 2.82 0.278 -1.146 8.646 1.153494 NA 0.31 0.804419 0.525647 NA 0.804 NA 8.9330144 767 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 767 17 65362552 65362552 T A exonic PSMD12 NA synonymous SNV PSMD12:NM_002816:exon1:c.A84T:p.L28L,PSMD12:NM_174871:exon1:c.A84T:p.L28L exonic ENSG00000197170 NA synonymous SNV ENSG00000197170:ENST00000356126:exon1:c.A84T:p.L28L,ENSG00000197170:ENST00000357146:exon1:c.A84T:p.L28L,ENSG00000197170:ENST00000579365:exon1:c.A84T:p.L28L,ENSG00000197170:ENST00000584008:exon1:c.A84T:p.L28L Score=677;Name=lod=749 NA 17q24.2 Score=832;Name=V$AP4_01 Name=TAF7_(SQ-8),TCF12,Ini1,CTCF,Pol2(phosphoS2),Pol2,HA-E2F1,ETS1,HEY1,NFKB,TAF1,HMGN3,Pol2-4H8,Sin3Ak-20,FOSL1_(SC-183),NRSF,YY1_(C-20),ZNF263,BAF155,CTCFL_(SC-98982),TBP,CCNT2,Pol2(b),ELK4,ZBTB7A_(SC-34508),c-Fos,YY1 Name=36 NA rs11079691 0.24 0.24 0.239 0.216454 0.2644 0.1696 0.1859 0.2595 0.1789 0.26 0.19 0.18 0.29 0.2298 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.992353 1.992353 NA 0.240056 0.271902 ID=COSM437192;OCCURENCE=1(breast),1(large_intestine) 0.174 NA 8.9324106 767 8 10470068 10470068 C T exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.G1540A:p.G514S exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.G1540A:p.G514S NA NA 8p23.1 NA NA NA NA rs74990397 0.31 0.31 0.331 0.294728 0.5109 0.0208 0.3112 0.348 0.271 0.5 0.02 0.34 0.35 0.3912 0.5 0.35 T 0.016 B 0.002 B 0.460 N 1.000 P -0.345 N 3.85 T -0.932 T 0.000 T 0.025 -0.867 0.51 -8.57 -3.027 -3.501 4.828 -0.866735 NA 0.3 0.499271 0.338935 ID=COSM1319774;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.406 NA 8.9319624 767 5 35910529 35910529 C T exonic CAPSL NA nonsynonymous SNV CAPSL:NM_001042625:exon3:c.G254A:p.R85Q,CAPSL:NM_144647:exon3:c.G254A:p.R85Q exonic ENSG00000152611 NA nonsynonymous SNV ENSG00000152611:ENST00000397366:exon3:c.G254A:p.R85Q,ENSG00000152611:ENST00000397367:exon3:c.G254A:p.R85Q,ENSG00000152611:ENST00000513623:exon3:c.G254A:p.R85Q,ENSG00000152611:ENST00000514524:exon3:c.G254A:p.R85Q NA Name=Type 1 diabetes 5p13.2 Score=742;Name=V$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 767 2 242157087 242157087 C T intronic ANO7 NA NA NA exonic ENSG00000146205 NA unknown UNKNOWN NA NA 2q37.3 NA Name=PAX5-C20,USF-1,USF1_(SC-8983),E2F6 Name=130 NA rs111770284 0.12 0.12 0.084 0.111621 0.169 0.1141 0.1744 0.0204 0.1288 0.15 0.11 0.19 0.02 0.2319 0.19 . . . . . . . . 0.974 P . . . . -1.066 T 0.000 T . 0.652 7.497 2.37 1.320 0.774 8.208 0.651919 NA NA 0.168114 0.050139 NA 0.116 NA 8.930986 767 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 767 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 767 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 767 2 165551404 165551404 G A exonic COBLL1 NA nonsynonymous SNV COBLL1:NM_014900:exon12:c.C2612T:p.T871I exonic ENSG00000082438 NA nonsynonymous SNV ENSG00000082438:ENST00000375458:exon11:c.C2498T:p.T833I,ENSG00000082438:ENST00000342193:exon12:c.C2612T:p.T871I,ENSG00000082438:ENST00000409184:exon12:c.C2612T:p.T871I,ENSG00000082438:ENST00000392717:exon13:c.C2726T:p.T909I,ENSG00000082438:ENST00000194871:exon15:c.C2813T:p.T938I NA NA 2q24.3 NA NA NA NA rs17244632 0.07 0.07 0.071 0.0527157 0.1581 0.0327 0.0519 0.0113 0.0215 0.15 0.03 0.06 0.01 0.1077 0.15 0.04 D 0.935 P 0.487 P 0.362 N 1.000 P 1.61 L . . -1.080 T 0.001 T 0.052 1.044 9.264 0.63 0.443 0.328 1.724 1.043933 NA 0.01 0.13907 0.036087 ID=COSM148972;OCCURENCE=1(stomach) 0.036 NA 8.9284634 767 4 130030652 130030652 A G exonic C4orf33 NA nonsynonymous SNV C4orf33:NM_001099783:exon5:c.A319G:p.M107V,C4orf33:NM_173487:exon5:c.A319G:p.M107V exonic ENSG00000151470 NA nonsynonymous SNV ENSG00000151470:ENST00000281146:exon5:c.A319G:p.M107V,ENSG00000151470:ENST00000425929:exon5:c.A319G:p.M107V,ENSG00000151470:ENST00000502887:exon5:c.A319G:p.M107V Score=449;Name=lod=89 NA 4q28.2 NA NA NA NA rs337277 0.71 0.71 0.675 0.695088 0.8052 0.7411 0.7305 0.3926 0.9182 0.82 0.8 0.73 0.43 0.7845 0.82 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.075 N 1.42 T -0.962 T 0.000 T 0.102 -0.587 1.366 5.61 1.378 4.877 13.712 -0.587294 NA 1 0.816395 0.465048 ID=COSM1131254;OCCURENCE=1(prostate) 0.58 NA 8.9272384 768 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 768 1 23419383 23419383 C T exonic LUZP1 NA nonsynonymous SNV LUZP1:NM_001142546:exon3:c.G1372A:p.G458S,LUZP1:NM_033631:exon4:c.G1372A:p.G458S exonic ENSG00000169641 NA nonsynonymous SNV ENSG00000169641:ENST00000314174:exon2:c.G1372A:p.G458S,ENSG00000169641:ENST00000374623:exon2:c.G1372A:p.G458S,ENSG00000169641:ENST00000418342:exon3:c.G1372A:p.G458S,ENSG00000169641:ENST00000302291:exon4:c.G1372A:p.G458S NA NA 1p36.12 NA NA NA NA rs477830 0.74 0.74 0.749 0.690296 0.828 0.8065 0.5937 0.6422 0.5624 0.83 0.79 0.61 0.65 0.753 0.83 0.55 T 0.038 B 0.012 B 0.000 D 1.000 P 1.445 L 2.59 T -1.062 T 0.000 T 0.174 1.618 11.37 3.97 1.414 2.361 12.789 1.618453 1.618453 0.39 0.827907 0.656605 NA 0.79 NA 8.9244264 768 2 68753240 68753240 T A exonic APLF NA nonsynonymous SNV APLF:NM_173545:exon6:c.T670A:p.S224T exonic ENSG00000169621 NA nonsynonymous SNV ENSG00000169621:ENST00000303795:exon6:c.T670A:p.S224T,ENSG00000169621:ENST00000445692:exon6:c.T670A:p.S224T NA NA 2p13.3 Score=911;Name=V$GATA_C NA NA NA rs35002937 0.2 0.2 0.22 0.229633 0.1213 0.0367 0.1182 0.5991 0.1196 0.12 0.04 0.12 0.59 0.1543 0.59 1 T 0.001 B 0.001 B 0.542 N 1.000 P -2.075 N 1.96 T -0.924 T 0.000 T 0.007 -2.284 0.004 3.6 0.421 0.150 4.105 -2.284029 NA 1 0.133372 0.541307 ID=COSM1409065;OCCURENCE=1(large_intestine) 0.239 NA 8.9243614 768 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 768 12 25671759 25671759 T A exonic IFLTD1 NA nonsynonymous SNV IFLTD1:NM_001145727:exon6:c.A907T:p.T303S,IFLTD1:NM_001145729:exon7:c.A1039T:p.T347S,IFLTD1:NM_152590:exon7:c.A1096T:p.T366S,IFLTD1:NM_001145728:exon8:c.A1159T:p.T387S,IFLTD1:NM_001256266:exon8:c.A805T:p.T269S exonic ENSG00000152936 NA nonsynonymous SNV ENSG00000152936:ENST00000539523:exon2:c.A247T:p.T83S,ENSG00000152936:ENST00000445693:exon6:c.A907T:p.T303S,ENSG00000152936:ENST00000282881:exon7:c.A1096T:p.T366S,ENSG00000152936:ENST00000413632:exon7:c.A1039T:p.T347S,ENSG00000152936:ENST00000458174:exon8:c.A1159T:p.T387S,ENSG00000152936:ENST00000539744:exon8:c.A805T:p.T269S NA NA 12p12.1 NA Name=ERalpha_a,c-Myc,p300 Name=65 NA rs1479500 0.76 0.76 0.751 0.714856 0.7942 0.876 0.7248 0.5287 0.7117 0.79 0.92 0.68 0.58 0.7855 0.92 1 T 0.0 B 0.0 B . . 1.000 P -0.55 N 3.14 T -0.986 T 0.000 T 0.091 -0.186 3.093 -4.07 -1.198 -0.502 2.716 -0.186433 NA 0.89 0.830349 0.575579 NA 0.739 NA 8.9232844 768 11 125830970 125830970 A T exonic CDON NA nonsynonymous SNV CDON:NM_001243597:exon20:c.T3731A:p.I1244N,CDON:NM_016952:exon20:c.T3662A:p.I1221N exonic ENSG00000064309 NA nonsynonymous SNV ENSG00000064309:ENST00000531738:exon11:c.T1793A:p.I598N,ENSG00000064309:ENST00000263577:exon20:c.T3662A:p.I1221N,ENSG00000064309:ENST00000392693:exon20:c.T3731A:p.I1244N Score=304;Name=lod=23 NA 11q24.2 NA NA Name=5 NA rs684535 0.8 0.8 0.782 NA NA NA NA NA NA 0.67 0.91 0.82 0.85 0.731 0.91 1 T 0.0 B 0.0 B 0.175 N 1.000 P -1.7 N 0.56 T -0.950 T 0.000 T 0.131 -1.989 0.007 4.34 0.515 0.438 3.138 -1.98902 NA 1 0.680972 0.825761 NA 0.812 NA 8.9213614 768 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 768 4 69337325 69337325 C G exonic TMPRSS11E NA nonsynonymous SNV TMPRSS11E:NM_014058:exon5:c.C474G:p.H158Q exonic ENSG00000087128 NA nonsynonymous SNV ENSG00000087128:ENST00000305363:exon5:c.C474G:p.H158Q NA NA 4q13.2 NA NA NA NA rs2603188 0.09 0.09 0.099 0.0934505 0.1551 0.004 0.0778 0.1248 0.091 0.15 0.0017 0.07 0.11 0.118 0.15 0.32 T 0.0 B 0.0 B 0.487 N 1.000 P 0 N 1.46 T -1.019 T 0.000 T 0.011 -0.804 0.664 -10.9 -1.724 -2.211 9.709 -0.804394 NA 0.23 0.140963 0.106673 NA 0.239 NA 8.9192704 768 4 184203886 184203886 G C exonic WWC2 NA nonsynonymous SNV WWC2:NM_024949:exon18:c.G2710C:p.D904H exonic ENSG00000151718 NA nonsynonymous SNV ENSG00000151718:ENST00000508747:exon1:c.G94C:p.D32H,ENSG00000151718:ENST00000504005:exon11:c.G1756C:p.D586H,ENSG00000151718:ENST00000403733:exon18:c.G2710C:p.D904H,ENSG00000151718:ENST00000448232:exon18:c.G2782C:p.D928H,ENSG00000151718:ENST00000513834:exon18:c.G2563C:p.D855H NA NA 4q35.1 NA NA NA NA rs3814422 0.25 0.25 0.245 0.253794 0.2634 0.2391 0.4063 0.1959 0.229 0.24 0.23 0.36 0.2 0.3626 0.36 0.11 T 0.958 D 0.661 P 0.229 N 1.000 P 1.61 L 3.46 T -0.947 T 0.000 T 0.162 2.244 13.46 2.62 0.105 0.703 10.708 2.244444 2.244444 0.09 0.28809 0.217372 ID=COSM1428799;OCCURENCE=1(large_intestine) 0.261 NA 8.9192434 768 8 144621035 144621035 G A exonic ZC3H3 NA nonsynonymous SNV ZC3H3:NM_015117:exon2:c.C502T:p.R168W exonic ENSG00000014164 NA nonsynonymous SNV ENSG00000014164:ENST00000262577:exon2:c.C502T:p.R168W NA NA 8q24.3 NA NA NA NA rs3750208 0.14 0.14 0.131 0.128395 0.1491 0.1329 0.1671 0.0424 0.1912 0.16 0.15 0.15 0.07 0.1368 0.16 0.02 D 0.0 B 0.0 B 0.106 N 1.000 P 0 N 2.25 T -1.021 T 0.000 T 0.057 -0.084 3.589 2.67 0.532 0.112 7.540 -0.083901 NA 0.03 0.128668 0.039073 NA 0.116 NA 8.9187654 768 14 44975052 44975052 A G exonic FSCB NA nonsynonymous SNV FSCB:NM_032135:exon1:c.T1139C:p.L380P exonic ENSG00000189139 NA nonsynonymous SNV ENSG00000189139:ENST00000340446:exon1:c.T1139C:p.L380P NA NA 14q21.2 NA Name=CTCF,Rad21 Name=5 NA rs3825630 0.25 0.25 0.24 0.271166 0.1193 0.3968 0.3055 0.2859 0.2536 0.11 0.39 0.27 0.28 0.1862 0.39 0.28 T 0.004 B 0.003 B . . 1.000 P 0.49 N 2.27 T -0.903 T 0.000 T 0.022 0.163 4.879 -0.16 -0.139 -0.903 6.212 0.163307 NA 0.12 0.10907 0.265093 ID=COSM147770;OCCURENCE=1(stomach) 0.232 NA 8.9187634 768 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 769 22 21384578 21384578 C T exonic SLC7A4 NA nonsynonymous SNV SLC7A4:NM_004173:exon3:c.G1045A:p.A349T exonic ENSG00000099960 NA nonsynonymous SNV ENSG00000099960:ENST00000382932:exon3:c.G1045A:p.A349T,ENSG00000099960:ENST00000403586:exon3:c.G1045A:p.A349T NA NA 22q11.21 NA NA NA NA rs2270384 0.27 0.27 0.281 0.330272 0.1093 0.5456 0.2522 0.3381 0.3804 0.1 0.5 0.22 0.3 0.207 0.5 0.38 T 0.001 B 0.003 B 0.006 N 1.000 P 0.755 N -2.51 D -0.969 T 0.000 T 0.047 0.781 8.121 2.62 0.671 0.335 9.277 0.780865 NA 0.33 0.102373 0.297322 NA 0.261 NA 8.9146604 769 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 769 10 85981801 85981801 T G exonic LRIT2 NA nonsynonymous SNV LRIT2:NM_001017924:exon3:c.A1528C:p.T510P exonic ENSG00000204033 NA nonsynonymous SNV ENSG00000204033:ENST00000372113:exon3:c.A1528C:p.T510P,ENSG00000204033:ENST00000538192:exon4:c.A1558C:p.T520P NA NA 10q23.1 NA NA NA NA rs6585847 0.54 0.54 0.528 0.555112 0.4662 0.4107 0.5346 0.8192 0.453 0.47 0.38 0.52 0.83 0.5 0.83 1 T 0.0 B 0.0 B 0.309 N 1.000 P 0 N 2.91 T -1.005 T 0.000 T 0.184 -0.296 2.589 5.06 1.288 1.715 11.377 -0.295668 NA 1 0.454641 0.748296 ID=COSM1349334;OCCURENCE=1(large_intestine) 0.522 NA 8.9124924 769 19 57325083 57325083 C T exonic PEG3 NA nonsynonymous SNV PEG3:NM_001146186:exon7:c.G4727A:p.R1576H,PEG3:NM_001146184:exon9:c.G4727A:p.R1576H,PEG3:NM_001146185:exon9:c.G4349A:p.R1450H,PEG3:NM_001146187:exon9:c.G4355A:p.R1452H,PEG3:NM_006210:exon10:c.G4727A:p.R1576H exonic ENSG00000198300 NA nonsynonymous SNV ENSG00000198300:ENST00000599534:exon7:c.G4727A:p.R1576H,ENSG00000198300:ENST00000423103:exon9:c.G4727A:p.R1576H,ENSG00000198300:ENST00000593695:exon9:c.G4349A:p.R1450H,ENSG00000198300:ENST00000598410:exon9:c.G4355A:p.R1452H,ENSG00000198300:ENST00000599577:exon9:c.G4727A:p.R1576H,ENSG00000198300:ENST00000326441:exon10:c.G4727A:p.R1576H Score=403;Name=lod=58 NA 19q13.43 NA Name=FOSL2 NA NA rs34051133 0.17 0.17 0.132 0.18131 0.1262 0.3948 0.1758 0.0257 0.2321 0.12 0.35 0.17 0.02 0.1646 0.35 0.25 T 0.06 B 0.019 B 0.216 N . . 1.23 L 0.63 T -0.975 T 0.000 T 0.1 2.718 15.05 0.537 0.216 -0.283 3.157 2.718073 2.718073 0 0.130116 0.0463 ID=COSM148778,COSM148779;OCCURENCE=1(stomach) 0.094 NA 8.9124174 769 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=USF-1,CTCF,CTCF_(C-20),CTCF_(SC-5916),Rad21,SMC3_(ab9263) 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 769 5 180377470 180377470 G A exonic BTNL8 NA nonsynonymous SNV BTNL8:NM_001159707:exon7:c.G1081A:p.A361T,BTNL8:NM_001159710:exon7:c.G877A:p.A293T,BTNL8:NM_001040462:exon8:c.G1429A:p.A477T,BTNL8:NM_001159709:exon8:c.G1054A:p.A352T exonic ENSG00000113303 NA nonsynonymous SNV ENSG00000113303:ENST00000505126:exon7:c.G808A:p.A270T,ENSG00000113303:ENST00000511704:exon7:c.G1081A:p.A361T,ENSG00000113303:ENST00000533815:exon7:c.G877A:p.A293T,ENSG00000113303:ENST00000340184:exon8:c.G1429A:p.A477T,ENSG00000113303:ENST00000400707:exon8:c.G1054A:p.A352T NA NA 5q35.3 NA NA Name=12 NA rs113820381 0.23 0.23 0.272 0.242212 0.1143 0.1171 0.1153 0.556 0.1687 0.12 0.11 0.14 0.59 0.1683 0.59 0.58 T 0.0 B 0.0 B . . 1.000 P 0 N 1.35 T -0.939 T 0.000 T 0.02 -1.822 0.009 -1.96 -2.423 0.136 6.761 -1.822179 NA 0.45 0.139905 0.510989 NA 0.203 NA 8.9108284 769 3 46010077 46010077 C T exonic FYCO1 NA nonsynonymous SNV FYCO1:NM_024513:exon8:c.G749A:p.R250Q exonic ENSG00000163820 NA nonsynonymous SNV ENSG00000163820:ENST00000535325:exon7:c.G749A:p.R250Q,ENSG00000163820:ENST00000296137:exon8:c.G749A:p.R250Q Score=536;Name=lod=201 NA 3p21.31 NA Name=CTCF NA NA rs4683158 0.92 0.92 0.917 0.928115 0.8012 1 0.9135 0.9818 0.9223 0.82 1 0.91 0.98 0.8468 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.125 N 2.29 T -0.966 T 0.000 T 0.079 2.325 13.73 5.45 0.902 2.190 10.127 2.325366 2.325366 0.74 0.774651 0.944167 NA 0.87 NA 8.9106824 769 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 769 9 14816829 14816829 G C exonic FREM1 NA nonsynonymous SNV FREM1:NM_144966:exon16:c.C2587G:p.L863V exonic ENSG00000164946 NA nonsynonymous SNV ENSG00000164946:ENST00000380880:exon15:c.C2587G:p.L863V,ENSG00000164946:ENST00000380875:exon16:c.C2587G:p.L863V,ENSG00000164946:ENST00000380881:exon16:c.C2590G:p.L864V,ENSG00000164946:ENST00000422223:exon16:c.C2587G:p.L863V NA NA 9p22.3 NA NA NA NA rs7041710 0.14 0.14 0.13 0.133387 0.0984 0.1498 0.0793 0.1687 0.1431 0.11 0.15 0.1 0.17 0.2037 0.17 0.3 T 0.001 B 0.001 B 0.042 N 1.000 P -0.35 N 1.73 T -1.022 T 0.000 T 0.079 -0.531 1.582 -4.39 -1.049 -0.610 7.078 -0.531394 NA 0.55 0.121978 0.141217 NA 0.203 NA 8.9092554 769 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-2gamma,AP-2alpha 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 769 1 43638457 43638457 T A exonic WDR65 NA synonymous SNV WDR65:NM_001167965:exon2:c.T33A:p.V11V,WDR65:NM_001195831:exon2:c.T33A:p.V11V,WDR65:NM_152498:exon2:c.T33A:p.V11V exonic ENSG00000243710 NA synonymous SNV ENSG00000243710:ENST00000372492:exon2:c.T33A:p.V11V,ENSG00000243710:ENST00000525227:exon2:c.T33A:p.V11V,ENSG00000243710:ENST00000528956:exon2:c.T33A:p.V11V,ENSG00000243710:ENST00000529956:exon2:c.T33A:p.V11V,ENSG00000243710:ENST00000533339:exon2:c.T33A:p.V11V Score=535;Name=lod=199 NA 1p34.2 Score=860;Name=V$FAC1_01 Name=E2F6,Mxi1_(bHLH),E2F6_(H-50),Sin3Ak-20,SETDB1,E2F4,IRF1,GATA-2,SP1,Max,ZNF263,Pol2-4H8 Name=142 NA rs1782387 0.17 0.17 0.155 0.142372 0.2903 NA 0.1513 0.1309 0.1462 0.32 NA 0.19 0.13 0.2109 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.460592 2.460592 NA 0.257209 0.118021 NA 0.297 NA 8.9082576 769 10 29843833 29843833 C T exonic SVIL NA synonymous SNV SVIL:NM_021738:exon5:c.G39A:p.G13G,SVIL:NM_003174:exon7:c.G39A:p.G13G exonic ENSG00000197321 NA synonymous SNV ENSG00000197321:ENST00000355867:exon5:c.G39A:p.G13G,ENSG00000197321:ENST00000375398:exon7:c.G39A:p.G13G,ENSG00000197321:ENST00000375400:exon7:c.G39A:p.G13G Score=528;Name=lod=187 NA 10p11.23 Score=734;Name=V$PAX4_04 Name=CTCF,Rad21 Name=47 NA rs1547169 0.27 0.27 0.247 0.257388 0.2386 0.3552 0.245 0.2352 0.2147 0.24 0.34 0.25 0.25 0.26 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.45882 1.45882 NA 0.26 0.263504 NA 0.29 NA 8.9080666 769 2 25022598 25022598 A G exonic CENPO NA nonsynonymous SNV CENPO:NM_001199803:exon2:c.A83G:p.Q28R,CENPO:NM_024322:exon3:c.A101G:p.Q34R exonic ENSG00000138092 NA nonsynonymous SNV ENSG00000138092:ENST00000473706:exon2:c.A83G:p.Q28R,ENSG00000138092:ENST00000260662:exon3:c.A101G:p.Q34R,ENSG00000138092:ENST00000380834:exon3:c.A101G:p.Q34R NA NA 2p23.3 NA NA NA NA rs1550116 0.15 0.15 0.139 0.132388 0.1461 0.2063 0.1138 0.1097 0.0859 0.14 0.22 0.15 0.1 0.1321 0.22 0.13 T 0.0 B 0.0 B 0.717 N 1.000 P -0.345 N 0.95 T -1.010 T 0.000 T 0.008 -0.27 2.705 -3.63 -0.951 0.288 6.535 -0.270191 NA 0.29 0.148256 0.110304 NA 0.261 NA 8.9068774 769 19 9060059 9060059 A C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.T27387G:p.D9129E exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.T27387G:p.D9129E NA NA 19p13.2 NA NA NA NA rs12977368 0.18 0.18 0.189 0.179113 0.3121 0.0099 0.2061 0.1445 0.2444 0.32 0.01 0.22 0.14 0.2776 0.34 0 D 0.736 P 0.444 B . . . . 0.695 N 1.91 T -0.954 T 0.000 T 0.018 0.478 6.593 -1.19 -0.409 -2.522 2.993 0.477708 NA 0.14 0.337017 0.152806 NA 0.239 NA 8.9066164 769 2 235949877 235949877 T C exonic SH3BP4 NA nonsynonymous SNV SH3BP4:NM_014521:exon4:c.T464C:p.M155T exonic ENSG00000130147 NA nonsynonymous SNV ENSG00000130147:ENST00000344528:exon4:c.T464C:p.M155T,ENSG00000130147:ENST00000392011:exon4:c.T464C:p.M155T,ENSG00000130147:ENST00000409212:exon4:c.T464C:p.M155T,ENSG00000130147:ENST00000446904:exon4:c.T464C:p.M155T NA NA 2q37.2 NA NA NA NA rs3731644 0.3 0.3 0.286 0.341653 0.0964 0.4117 0.4092 0.4002 0.3947 0.1 0.44 0.36 0.41 0.2199 0.44 0.63 T 0.0 B 0.0 B 0.415 N 1.000 P 0 N 3.06 T -0.920 T 0.000 T 0.023 -0.037 3.825 2.53 -0.001 1.295 3.184 -0.03698 NA 0.62 0.110465 0.368134 ID=COSM149105;OCCURENCE=1(stomach) 0.37 NA 8.9065684 769 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 769 9 139848688 139848688 C T exonic LCN12 NA synonymous SNV LCN12:NM_178536:exon5:c.C531T:p.I177I exonic ENSG00000184925 NA nonsynonymous SNV ENSG00000184925:ENST00000371632:exon4:c.C257T:p.S86L NA NA 9q34.3 Score=791;Name=V$GFI1_01 NA NA NA rs4880175 0.75 0.75 0.783 0.749201 0.6869 0.8641 0.5807 0.8646 0.6585 0.69 0.85 0.6 0.82 0.72 0.85 0 D . . . . . . 1.000 P . . . . -1.021 T 0.000 T . 0.491 6.665 -4.2 -1.562 -0.711 6.450 0.491255 NA 0 0.687217 0.848507 ID=COSM455625;OCCURENCE=2(breast) 0.746 NA 8.905883 770 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 770 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$MIF1_01 NA NA NA rs349053 0.38 0.38 0.387 0.445288 0.4791 0.1498 0.3199 0.5469 0.6667 0.47 0.13 0.4 0.52 0.4613 0.55 0.07 T 0.271 B 0.066 B 0.339 N 0.987 P 0.895 L -0.38 T -0.928 T 0.000 T 0.013 2.384 13.93 2.15 0.212 0.898 5.960 2.383557 2.383557 0.09 0.488488 0.554925 ID=COSM1394320,COSM1394321;OCCURENCE=1(large_intestine) 0.5 NA 8.9044454 770 3 122274757 122274757 G C exonic PARP9 NA synonymous SNV PARP9:NM_001146102:exon4:c.C366G:p.V122V,PARP9:NM_001146103:exon4:c.C261G:p.V87V,PARP9:NM_001146104:exon4:c.C261G:p.V87V,PARP9:NM_001146105:exon4:c.C261G:p.V87V,PARP9:NM_001146106:exon4:c.C261G:p.V87V,PARP9:NM_031458:exon4:c.C366G:p.V122V exonic ENSG00000138496 NA synonymous SNV ENSG00000138496:ENST00000360356:exon4:c.C366G:p.V122V,ENSG00000138496:ENST00000462315:exon4:c.C261G:p.V87V,ENSG00000138496:ENST00000466126:exon4:c.C300G:p.V100V,ENSG00000138496:ENST00000471785:exon4:c.C261G:p.V87V,ENSG00000138496:ENST00000477522:exon4:c.C261G:p.V87V Score=472;Name=lod=111 NA 3q21.1 Score=953;Name=V$TCF11_01 Name=MafK_(ab50322) Name=63 NA rs73192127 0.21 0.21 0.205 0.1873 0.2594 0.2312 0.2046 0.0651 0.2209 0.27 0.26 0.19 0.07 0.241 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.820549 NA NA 0.26186 0.09714 NA 0.138 NA 8.9044066 770 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 770 16 16281007 16281007 A G exonic ABCC6 NA nonsynonymous SNV ABCC6:NM_001171:exon14:c.T1841C:p.V614A exonic ENSG00000091262 NA nonsynonymous SNV ENSG00000091262:ENST00000205557:exon14:c.T1841C:p.V614A,ENSG00000091262:ENST00000456970:exon14:c.T1841C:p.V614A NA NA 16p13.11 NA NA NA NA rs12931472 0.37 0.37 0.357 0.339457 0.5 0.1518 0.4957 0.3328 0.2658 0.49 0.16 0.48 0.36 0.4261 0.5 0.46 T 0.0 B 0.0 B 0.422 N 1.000 P -0.305 N -2.56 D -0.965 T 0.000 T 0.303 0.166 4.895 3.85 0.432 1.037 3.582 0.166267 NA 1 0.504884 0.383933 NA 0.362 NA 8.9023494 770 21 47538960 47538960 G A exonic COL6A2 NA nonsynonymous SNV COL6A2:NM_001849:exon14:c.G1196A:p.S399N,COL6A2:NM_058174:exon14:c.G1196A:p.S399N,COL6A2:NM_058175:exon14:c.G1196A:p.S399N exonic ENSG00000142173 NA nonsynonymous SNV ENSG00000142173:ENST00000397763:exon13:c.G1196A:p.S399N,ENSG00000142173:ENST00000409416:exon13:c.G1196A:p.S399N,ENSG00000142173:ENST00000300527:exon14:c.G1196A:p.S399N,ENSG00000142173:ENST00000310645:exon14:c.G1196A:p.S399N,ENSG00000142173:ENST00000357838:exon14:c.G1196A:p.S399N Score=399;Name=lod=56 NA 21q22.3 Score=839;Name=V$RFX1_02 NA NA NA rs2839110 0.79 0.79 0.793 0.705272 0.83 0.874 0.8804 0.5045 0.5501 0.83 0.9 0.87 0.54 0.7734 0.9 0.56 T 0.0 B 0.001 B 0.050 N 1.000 P 0.45 N -3.24 D -0.967 T 0.000 T 0.044 0.124 4.669 0.703 -0.153 0.361 5.873 0.124319 NA 0.49 0.827867 0.536574 NA 0.768 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079842.2;CLNDSDB=.;CLNDSDBID=. 8.9020664 770 22 50599466 50599466 C A exonic MOV10L1 NA nonsynonymous SNV MOV10L1:NM_001164106:exon8:c.C917A:p.A306E,MOV10L1:NM_001164104:exon25:c.C3398A:p.A1133E,MOV10L1:NM_018995:exon26:c.C3536A:p.A1179E exonic ENSG00000073146 NA nonsynonymous SNV ENSG00000073146:ENST00000395852:exon8:c.C917A:p.A306E,ENSG00000073146:ENST00000395858:exon25:c.C3398A:p.A1133E,ENSG00000073146:ENST00000262794:exon26:c.C3536A:p.A1179E,ENSG00000073146:ENST00000545383:exon27:c.C3536A:p.A1179E NA NA 22q13.33 NA NA NA NA rs2272843 0.13 0.13 0.117 0.124601 0.1372 0.1488 0.2017 0.031 0.1585 0.14 0.19 0.17 0.03 0.1461 0.19 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.04 N -1.22 T -0.958 T 0.001 T 0.118 -2.223 0.005 5.14 0.804 2.379 5.442 -2.223352 NA 0.95 0.148372 0.055606 NA 0.116 NA 8.9016614 770 3 9876919 9876919 G A exonic TTLL3 NA nonsynonymous SNV TTLL3:NM_001025930:exon13:c.G2494A:p.A832T exonic ENSG00000214021 NA nonsynonymous SNV ENSG00000214021:ENST00000426895:exon13:c.G2494A:p.A832T,ENSG00000214021:ENST00000547186:exon13:c.G2065A:p.A689T NA NA 3p25.3 Score=875;Name=V$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 770 9 132591509 132591509 A G exonic C9orf78 NA synonymous SNV C9orf78:NM_016520:exon8:c.T753C:p.G251G exonic ENSG00000136819 NA synonymous SNV ENSG00000136819:ENST00000372447:exon8:c.T753C:p.G251G NA NA 9q34.11 Score=934;Name=V$AP1FJ_Q2 NA NA NA rs3818553 0.24 0.24 0.238 0.23762 0.2734 0.2143 0.2147 0.2194 0.2658 0.28 0.22 0.23 0.19 0.2424 0.28 . . . . . . . . 0.000 P . . . . . . . . . 1.139 9.641 -11.9 -2.722 -2.932 6.555 1.139016 NA 0.62 0.249419 0.225828 ID=COSM150727;OCCURENCE=1(stomach) 0.203 NA 8.9014476 770 6 32411035 32411035 A C exonic HLA-DRA NA synonymous SNV HLA-DRA:NM_019111:exon3:c.A402C:p.I134I exonic;splicing ENSG00000204287;ENSG00000204287 ENST00000374982:exon3:c.329-2A>C synonymous SNV ENSG00000204287:ENST00000395388:exon3:c.A402C:p.I134I NA NA 6p21.32 NA Name=Pol2-4H8,Pol2 NA NA rs8084 0.61 0.61 0.587 0.627196 0.5865 0.6756 0.6744 0.5961 0.6278 0.56 0.67 0.64 0.58 0.6096 0.67 . . . . . . . . 0.000 P . . . . . . . . . -1.924 0.008 -9.66 -2.686 -3.492 6.774 -1.924142 NA NA 0.569214 0.571807 ID=COSM1443621;OCCURENCE=1(large_intestine) 0.652 NA 8.9013526 770 9 132597021 132597021 C T exonic C9orf78 NA synonymous SNV C9orf78:NM_016520:exon2:c.G108A:p.E36E exonic ENSG00000136819 NA synonymous SNV ENSG00000136819:ENST00000372447:exon2:c.G108A:p.E36E Score=571;Name=lod=278 NA 9q34.11 Score=703;Name=V$HOX13_01 Name=ELF1_(SC-631) Name=8 NA rs3814547 0.23 0.23 0.236 0.232827 0.2753 0.2143 0.2133 0.1997 0.2669 0.28 0.22 0.23 0.18 0.2402 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.256199 3.256199 NA 0.250116 0.20699 ID=COSM150728;OCCURENCE=1(stomach) 0.203 NA 8.9010506 770 17 56270442 56270442 A G exonic EPX NA nonsynonymous SNV EPX:NM_000502:exon2:c.A120G:p.I40M exonic ENSG00000121053 NA nonsynonymous SNV ENSG00000121053:ENST00000225371:exon2:c.A120G:p.I40M NA NA 17q22 NA NA NA NA rs11079339 0.12 0.12 0.106 0.122005 0.1531 0.0992 0.1412 0.1233 0.0982 0.16 0.08 0.12 0.12 0.1384 0.16 0.33 T 0.006 B 0.002 B 0.151 N 1.000 P 0.575 N -0.63 T -1.119 T 0.001 T 0.032 2.416 14.04 -6.08 -0.983 -0.651 4.146 2.415976 2.415976 0.43 0.14093 0.141398 NA 0.036 NA 8.9009034 770 8 27328511 27328511 G A exonic CHRNA2 NA nonsynonymous SNV CHRNA2:NM_000742:exon2:c.C65T:p.T22I exonic ENSG00000120903 NA nonsynonymous SNV ENSG00000120903:ENST00000520933:exon1:c.C65T:p.T22I,ENSG00000120903:ENST00000240132:exon2:c.C65T:p.T22I,ENSG00000120903:ENST00000407991:exon2:c.C65T:p.T22I,ENSG00000120903:ENST00000521921:exon2:c.C65T:p.T22I,ENSG00000120903:ENST00000523695:exon2:c.C65T:p.T22I,ENSG00000120903:ENST00000524096:exon2:c.C65T:p.T22I,ENSG00000120903:ENST00000518712:exon3:c.C65T:p.T22I NA NA 8p21.2 NA NA NA NA rs2472553 0.25 0.25 0.239 0.221046 0.1372 0.4325 0.1945 0.1921 0.1472 0.13 0.51 0.19 0.19 0.1647 0.51 1 T 0.0 B 0.0 B 0.001 N 1.000 P 0 N 0.51 T -0.974 T 0.000 T 0.371 -2.672 0 -2.5 -0.388 0.305 5.118 -2.67228 NA 0.66 0.130814 0.18384 NA 0.167 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116713.2|RCV000124280.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.9006194 770 14 77794283 77794283 T C exonic GSTZ1 NA nonsynonymous SNV GSTZ1:NM_145870:exon5:c.T245C:p.M82T,GSTZ1:NM_001513:exon6:c.T80C:p.M27T exonic ENSG00000100577 NA nonsynonymous SNV ENSG00000100577:ENST00000555583:exon4:c.T80C:p.M27T,ENSG00000100577:ENST00000556627:exon4:c.T164C:p.M55T,ENSG00000100577:ENST00000557639:exon4:c.T80C:p.M27T,ENSG00000100577:ENST00000216465:exon5:c.T245C:p.M82T,ENSG00000100577:ENST00000553586:exon5:c.T248C:p.M83T,ENSG00000100577:ENST00000554279:exon5:c.T203C:p.M68T,ENSG00000100577:ENST00000361389:exon6:c.T80C:p.M27T,ENSG00000100577:ENST00000393734:exon6:c.T80C:p.M27T,ENSG00000100577:ENST00000554846:exon6:c.T80C:p.M27T Score=522;Name=lod=176 NA 14q24.3 NA NA NA NA rs1046428 0.87 0.87 0.89 0.853035 0.8121 0.9554 0.7406 0.9175 0.7822 0.82 0.97 0.74 0.93 0.8162 0.97 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.75 N 2.67 T -0.966 T 0.000 T 0.133 0.15 4.807 4.8 1.146 3.519 10.820 0.150033 NA 1 0.804767 0.901498 NA 0.906 NA 8.9002664 770 8 139838912 139838912 T C exonic COL22A1 NA nonsynonymous SNV COL22A1:NM_152888:exon6:c.A958G:p.S320G exonic ENSG00000169436 NA nonsynonymous SNV ENSG00000169436:ENST00000303045:exon6:c.A958G:p.S320G,ENSG00000169436:ENST00000435777:exon6:c.A958G:p.S320G Score=575;Name=lod=290 NA 8q24.23 NA NA NA NA rs2292927 0.81 0.81 0.814 0.83147 0.8091 0.7599 0.8156 0.8729 0.8834 0.82 0.76 0.82 0.87 0.8146 0.87 . . 0.0 B 0.0 B 0.000 N 0.966 P -2.69 N 2.33 T -0.991 T 0.000 T 0.094 1.123 9.579 5.21 1.227 5.956 13.184 1.122994 NA 1 0.810465 0.866092 NA 0.87 NA 8.8991684 770 1 55139741 55139741 A G exonic MROH7 NA nonsynonymous SNV MROH7:NM_001039464:exon10:c.A1853G:p.H618R exonic ENSG00000184313,ENSG00000271723 NA nonsynonymous SNV ENSG00000184313:ENST00000409996:exon8:c.A557G:p.H186R,ENSG00000184313:ENST00000454855:exon8:c.A407G:p.H136R,ENSG00000184313:ENST00000545244:exon8:c.A557G:p.H186R,ENSG00000184313:ENST00000339553:exon10:c.A1853G:p.H618R,ENSG00000184313:ENST00000395690:exon10:c.A1853G:p.H618R,ENSG00000271723:ENST00000414150:exon10:c.A1853G:p.H618R,ENSG00000184313:ENST00000421030:exon10:c.A1853G:p.H618R,ENSG00000184313:ENST00000440047:exon10:c.A1853G:p.H618R Score=417;Name=lod=66 NA 1p32.3 NA NA NA NA rs570218 0.88 0.88 0.872 0.909744 0.8032 0.998 0.8559 0.9259 0.9448 0.8 1 0.82 0.92 0.8441 1 1 T 0.0 B 0.0 B 0.004 N 0.000 P -2.095 N 4.76 T -1.010 T 0.000 T 0.094 -0.014 3.944 4.65 0.981 3.045 9.028 -0.013634 NA 0.3 0.790222 0.905293 NA 0.877 NA 8.8958114 770 3 44489880 44489880 T C exonic ZNF445 NA nonsynonymous SNV ZNF445:NM_181489:exon8:c.A1283G:p.Y428C exonic ENSG00000185219 NA nonsynonymous SNV ENSG00000185219:ENST00000425708:exon7:c.A1283G:p.Y428C,ENSG00000185219:ENST00000396077:exon8:c.A1283G:p.Y428C NA NA 3p21.31 NA NA NA NA rs11710965 0.07 0.07 0.071 0.0485224 0.171 NA 0.0648 0.0121 0.0102 0.17 NA 0.05 0.01 0.1134 0.17 0.07 T 0.002 B 0.002 B 0.746 N 1.000 P 2.565 M 3.4 T -0.989 T 0.000 T 0.04 1.786 11.93 -3.72 -0.657 0.903 5.022 1.786117 1.786117 0.06 0.153721 0.037449 NA 0.043 NA 8.8952124 771 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=HEY1,TAF1 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 771 1 222923351 222923351 A G exonic FAM177B NA nonsynonymous SNV FAM177B:NM_207468:exon6:c.A428G:p.Q143R exonic ENSG00000197520 NA nonsynonymous SNV ENSG00000197520:ENST00000360827:exon6:c.A428G:p.Q143R,ENSG00000197520:ENST00000445590:exon6:c.A428G:p.Q143R NA Name=Cognitive performance 1q41 NA Name=Rad21,CTCF NA NA rs6683071 0.81 0.81 0.801 0.791534 0.826 0.8006 0.8545 0.7481 0.7607 0.82 0.83 0.85 0.76 0.8032 0.85 0.84 T 0.0 B 0.0 B . . 1.000 P 0 N 1.53 T -1.027 T 0.000 T 0.012 -1.204 0.07 -11.0 -4.367 -2.114 2.280 -1.204312 NA 0.64 0.810213 0.767037 ID=COSM146785;OCCURENCE=1(stomach) 0.812 NA 8.8939204 771 7 48506566 48506566 A G exonic ABCA13 NA nonsynonymous SNV ABCA13:NM_152701:exon44:c.A12829G:p.N4277D exonic ENSG00000179869 NA nonsynonymous SNV ENSG00000179869:ENST00000435803:exon44:c.A12829G:p.N4277D NA NA 7p12.3 NA NA NA NA rs4917152 0.23 0.23 0.197 0.230831 0.1491 0.2163 0.2608 0.3525 0.1442 0.16 0.22 0.25 0.32 0.1703 0.32 1 T 0.0 B 0.0 B 0.727 N 1.000 P -1.355 N -1.93 D -1.087 T 0.000 T 0.128 -1.215 0.065 1.49 -0.123 1.337 8.133 -1.215318 NA 1 0.12114 0.294444 NA 0.159 NA 8.8927934 771 8 381344 381344 C G exonic FBXO25 NA nonsynonymous SNV FBXO25:NM_183420:exon3:c.C138G:p.I46M,FBXO25:NM_183421:exon3:c.C138G:p.I46M exonic ENSG00000147364 NA nonsynonymous SNV ENSG00000147364:ENST00000276326:exon3:c.C138G:p.I46M,ENSG00000147364:ENST00000350302:exon3:c.C138G:p.I46M,ENSG00000147364:ENST00000518240:exon3:c.C138G:p.I46M Score=546;Name=lod=220 NA 8p23.3 NA NA NA NA rs28438773 0.15 0.15 0.138 0.170527 0.1392 0.2927 0.1412 0.1044 0.1871 0.14 0.23 0.12 0.11 0.1505 0.23 0.2 T 0.021 B 0.019 B 0.055 N 0.000 P 0.55 N 1.64 T -1.004 T 0.000 T 0.132 1.12 9.568 2.29 0.863 0.269 3.344 1.120164 NA 0.02 0.151398 0.110654 NA 0.188 NA 8.8922354 771 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 771 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 771 11 5566365 5566365 T C exonic OR52H1 NA nonsynonymous SNV OR52H1:NM_001005289:exon1:c.A389G:p.H130R exonic ENSG00000181616 NA nonsynonymous SNV ENSG00000181616:ENST00000322653:exon1:c.A389G:p.H130R Score=526;Name=lod=183 NA 11p15.4 Score=726;Name=V$PPARG_01 NA NA NA rs1566275 0.87 0.87 0.874 0.889377 0.8002 0.9196 0.8415 0.9349 0.9223 0.81 0.91 0.83 0.93 0.8355 0.93 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.445 N 3.55 T -0.924 T 0.000 T 0.044 -1.396 0.023 4.63 0.326 2.569 16.587 -1.396385 NA 1 0.807773 0.918446 NA 0.848 NA 8.8898604 771 7 100859234 100859234 G A exonic PLOD3 NA synonymous SNV PLOD3:NM_001084:exon5:c.C570T:p.D190D exonic ENSG00000106397 NA nonsynonymous SNV ENSG00000106397:ENST00000424135:exon3:c.C335T:p.T112M Score=526;Name=lod=183 NA 7q22.1 NA NA NA NA rs35159414 0.02 0.02 0.017 0.0115815 0.0368 NA 0.0216 0.0015 0.0041 0.04 NA 0.03 0.002 0.0281 0.046 . . . . . . . . 1.000 D . . . . -0.992 T 0.044 T . 0.267 5.444 -1.64 -0.633 -0.159 10.955 0.267109 NA 0 0.04593 0.008625 NA 0.08 NA 8.88917 771 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 771 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 771 14 78028803 78028803 A G exonic SPTLC2 NA synonymous SNV SPTLC2:NM_004863:exon6:c.T786C:p.N262N exonic ENSG00000100596 NA synonymous SNV ENSG00000100596:ENST00000216484:exon6:c.T786C:p.N262N Score=573;Name=lod=284 NA 14q24.3 NA NA Name=4 NA rs2364602 0.85 0.85 0.836 0.83746 0.9423 0.9891 0.8184 0.5575 0.9652 0.94 1 0.84 0.55 0.9029 1 . . . . . . . . 0.000 P . . . . -1.014 T 0.000 T . 0.569 7.074 5.73 1.579 1.110 11.672 0.56898 NA NA 0.93407 0.638221 NA 0.804 NA 8.8873966 771 4 88732911 88732911 C T exonic IBSP NA nonsynonymous SNV IBSP:NM_004967:exon7:c.C803T:p.A268V exonic ENSG00000029559 NA nonsynonymous SNV ENSG00000029559:ENST00000226284:exon7:c.C803T:p.A268V Score=265;Name=lod=16 NA 4q22.1 NA NA NA NA rs1054628 0.22 0.22 0.216 0.211661 0.1272 0.2927 0.2493 0.2685 0.1115 0.12 0.29 0.26 0.25 0.1646 0.29 0.21 T 0.017 B 0.042 B 0.284 N 1.000 P 0.69 N 2.55 T -0.932 T 0.000 T 0.06 2.392 13.96 3.47 0.487 0.359 13.244 2.391875 2.391875 0.2 0.154186 0.260327 NA 0.261 NA 8.8873474 771 22 24108412 24108412 G A exonic CHCHD10 NA synonymous SNV CHCHD10:NM_213720:exon3:c.C312T:p.Y104Y exonic ENSG00000250479 NA stopgain ENSG00000250479:ENST00000517886:exon3:c.C259T:p.R87X Score=500;Name=lod=144 NA 22q11.23 NA NA NA NA rs80027270 0.78 0.78 0.785 0.729832 0.837 0.6647 0.8458 0.7534 0.5726 0.85 0.68 0.83 0.76 0.7766 0.85 0 D . . . . . . 0.000 P . . . . -1.003 T 0.000 T . 3.867 19.65 -5.17 -1.034 0.271 13.858 3.866735 3.866735 NA 0.832442 0.751475 NA 0.783 NA 8.8872913 771 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 771 12 77438436 77438436 T C exonic E2F7 NA synonymous SNV E2F7:NM_203394:exon6:c.A969G:p.P323P exonic ENSG00000165891 NA synonymous SNV ENSG00000165891:ENST00000552907:exon3:c.A597G:p.P199P,ENSG00000165891:ENST00000322886:exon6:c.A969G:p.P323P,ENSG00000165891:ENST00000416496:exon6:c.A969G:p.P323P,ENSG00000165891:ENST00000550669:exon6:c.A969G:p.P323P NA NA 12q21.2 Score=749;Name=V$PAX4_04 NA NA NA rs2242384 0.2 0.2 0.182 0.189896 0.2575 0.1647 0.2464 0.1036 0.2229 0.26 0.17 0.25 0.1 0.2486 0.28 . . . . . . . . 0.000 P . . . . -1.081 T 0.000 T . 0.577 7.117 -12.1 -2.400 -4.852 11.742 0.577118 NA NA 0.275465 0.133 ID=COSM147566;OCCURENCE=1(stomach) 0.188 NA 8.8851016 772 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=GATA-1,GABP,EBF1_(C-8),RFX5_(N-494),YY1,Mxi1_(bHLH),ERalpha_a,Sin3Ak-20,YY1_(C-20),Max 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 772 7 43916727 43916727 T G exonic URGCP NA nonsynonymous SNV URGCP:NM_017920:exon5:c.A2308C:p.M770L,URGCP:NM_001077663:exon6:c.A2335C:p.M779L,URGCP:NM_001077664:exon6:c.A2206C:p.M736L exonic ENSG00000106608 NA nonsynonymous SNV ENSG00000106608:ENST00000336086:exon4:c.A2206C:p.M736L,ENSG00000106608:ENST00000223341:exon5:c.A2206C:p.M736L,ENSG00000106608:ENST00000402306:exon5:c.A2308C:p.M770L,ENSG00000106608:ENST00000443736:exon6:c.A2206C:p.M736L,ENSG00000106608:ENST00000453200:exon6:c.A2335C:p.M779L,ENSG00000106608:ENST00000447717:exon7:c.A2206C:p.M736L NA NA 7p13 NA NA Name=5 NA rs2232108 0.48 0.48 0.44 0.510982 0.4602 0.5764 0.5231 0.3933 0.6462 0.47 0.54 0.53 0.38 0.5157 0.54 0.03 D 0.001 B 0.001 B 0.006 N 0.000 P 1.39 L 0.27 T -0.947 T 0.000 T 0.135 2.491 14.29 3.0 0.854 0.607 3.030 2.491278 2.491278 0.13 0.472976 0.380108 NA 0.536 NA 8.8844574 772 X 48054740 48054740 C G exonic SSX5 NA nonsynonymous SNV SSX5:NM_021015:exon2:c.G55C:p.E19Q,SSX5:NM_175723:exon2:c.G55C:p.E19Q exonic ENSG00000165583 NA nonsynonymous SNV ENSG00000165583:ENST00000376923:exon1:c.G55C:p.E19Q,ENSG00000165583:ENST00000311798:exon2:c.G55C:p.E19Q,ENSG00000165583:ENST00000347757:exon2:c.G55C:p.E19Q NA NA Xp11.23 NA Name=CTCF NA NA rs4824675 0.88 0.88 0.87281 NA NA NA NA NA NA 1 0.92 0.9 0.64 0.9525 1 0.14 T 0.983 D 0.721 P 0.495 N 1.000 P 2.785 M 5.68 T -0.992 T 0.000 T 0.092 1.521 11.04 0.506 0.095 -0.198 5.102 1.520672 1.520672 0.04 0.996878 0.658409 NA 0.652 NA 8.8839554 772 13 52544805 52544805 C G exonic ATP7B NA nonsynonymous SNV ATP7B:NM_000053:exon3:c.G1366C:p.V456L,ATP7B:NM_001005918:exon3:c.G1366C:p.V456L,ATP7B:NM_001243182:exon4:c.G1033C:p.V345L exonic ENSG00000123191 NA nonsynonymous SNV ENSG00000123191:ENST00000542656:exon2:c.G1270C:p.V424L,ENSG00000123191:ENST00000242839:exon3:c.G1366C:p.V456L,ENSG00000123191:ENST00000344297:exon3:c.G1366C:p.V456L,ENSG00000123191:ENST00000418097:exon3:c.G1366C:p.V456L,ENSG00000123191:ENST00000448424:exon3:c.G1366C:p.V456L,ENSG00000123191:ENST00000400366:exon4:c.G1033C:p.V345L NA NA 13q14.3 NA NA NA NA rs1801244 0.42 0.42 0.402 0.376997 0.5258 0.4841 0.389 0.1868 0.362 0.52 0.46 0.42 0.2 0.4346 0.52 0.71 T 0.042 B 0.039 B 0.761 N 1.000 P 0.695 N -1.94 D -1.006 T 0.000 T 0.089 1.544 11.11 -0.181 0.214 -1.004 2.164 1.543605 1.543605 0.45 0.491542 0.224443 NA 0.297 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=Wilson's_disease|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000029351.1|RCV000078039.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009|. 8.8813914 772 X 134185997 134185997 T A exonic FAM127B NA nonsynonymous SNV FAM127B:NM_001078172:exon1:c.A142T:p.S48C,FAM127B:NM_001134321:exon1:c.A142T:p.S48C exonic ENSG00000203950 NA nonsynonymous SNV ENSG00000203950:ENST00000370775:exon1:c.A142T:p.S48C Score=544;Name=lod=217 NA Xq26.3 NA Name=ZNF263,Pol2 NA NA rs2498776 0.74 0.74 0.75914 NA NA NA NA NA NA 0.74 0.6 0.68 0.93 0.7091 0.93 0.06 T 0.444 B 0.046 B 0.197 U 1.000 P 0.55 N 1.48 T -1.070 T 0.000 T 0.124 1.604 11.32 2.38 0.446 0.381 4.711 1.603557 1.603557 0.09 0.742857 0.893784 ID=COSM150824;OCCURENCE=1(stomach),1(large_intestine) 0.507 NA 8.8813764 772 11 113194168 113194168 A C exonic TTC12 NA nonsynonymous SNV TTC12:NM_017868:exon3:c.A217C:p.M73L exonic ENSG00000149292 NA nonsynonymous SNV ENSG00000149292:ENST00000483239:exon2:c.A217C:p.M73L,ENSG00000149292:ENST00000531164:exon2:c.A142C:p.M48L,ENSG00000149292:ENST00000314756:exon3:c.A217C:p.M73L,ENSG00000149292:ENST00000393020:exon3:c.A217C:p.M73L,ENSG00000149292:ENST00000429951:exon3:c.A217C:p.M73L,ENSG00000149292:ENST00000455306:exon3:c.A217C:p.M73L,ENSG00000149292:ENST00000464224:exon3:c.A217C:p.M73L,ENSG00000149292:ENST00000494714:exon3:c.A217C:p.M73L,ENSG00000149292:ENST00000525965:exon3:c.A217C:p.M73L,ENSG00000149292:ENST00000529221:exon3:c.A217C:p.M73L,ENSG00000149292:ENST00000529850:exon3:c.A217C:p.M73L,ENSG00000149292:ENST00000442859:exon4:c.A217C:p.M73L NA NA 11q23.2 NA NA NA NA rs723077 0.37 0.37 0.337 0.358626 0.4831 0.4018 0.3963 0.1172 0.4857 0.48 0.38 0.44 0.13 0.4658 0.51 0.47 T 0.0 B 0.0 B . . 1.000 P 0.69 N 2.64 T -0.971 T 0.000 T 0.229 0.629 7.38 -8.61 -2.455 -1.431 5.394 0.628627 NA 0.32 0.505005 0.193548 ID=COSM147324;OCCURENCE=1(stomach),1(prostate) 0.326 NA 8.8794284 772 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 772 2 48809593 48809593 G T exonic STON1,STON1-GTF2A1L NA nonsynonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.G1821T:p.Q607H,STON1-GTF2A1L:NM_001198593:exon2:c.G1821T:p.Q607H,STON1:NM_006873:exon2:c.G1821T:p.Q607H,STON1-GTF2A1L:NM_172311:exon2:c.G1821T:p.Q607H,STON1:NM_001198595:exon3:c.G1821T:p.Q607H exonic ENSG00000068781,ENSG00000243244 NA nonsynonymous SNV ENSG00000068781:ENST00000309827:exon1:c.G1821T:p.Q607H,ENSG00000243244:ENST00000309835:exon1:c.G1821T:p.Q607H,ENSG00000068781:ENST00000394751:exon1:c.G1821T:p.Q607H,ENSG00000243244:ENST00000444932:exon1:c.G159T:p.Q53H,ENSG00000068781:ENST00000394754:exon2:c.G1821T:p.Q607H,ENSG00000068781:ENST00000402114:exon2:c.G1821T:p.Q607H,ENSG00000243244:ENST00000404752:exon2:c.G1821T:p.Q607H,ENSG00000068781:ENST00000405008:exon2:c.G1821T:p.Q607H,ENSG00000243244:ENST00000406226:exon3:c.G1821T:p.Q607H NA NA 2p16.3 Score=799;Name=V$PPARG_03 NA NA NA rs3792234 0.41 0.41 0.429 0.396366 0.4811 0.37 0.4135 0.2927 0.4642 0.5 0.4 0.39 0.3 0.4713 0.5 0.32 T 0.0 B 0.001 B 0.031 N 1.000 P -0.37 N 3.1 T -0.956 T 0.000 T 0.115 -2.467 0.003 -11.3 -3.411 -2.081 7.517 -2.467123 NA 0.9 0.503372 0.338856 ID=COSM1130770,COSM1130771;OCCURENCE=1(prostate) 0.493 NA 8.8775614 772 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 772 1 63999826 63999826 C T exonic EFCAB7 NA nonsynonymous SNV EFCAB7:NM_032437:exon6:c.C743T:p.T248I exonic ENSG00000203965 NA nonsynonymous SNV ENSG00000203965:ENST00000371088:exon6:c.C743T:p.T248I Score=399;Name=lod=56 NA 1p31.3 NA NA NA NA rs6693255 0.15 0.15 0.135 0.144968 0.1441 0.1855 0.1614 0.0855 0.1728 0.14 0.18 0.17 0.1 0.1585 0.18 0.01 D 0.294 B 0.07 B 0.052 N 0.000 P 1.5 L 0.32 T -1.083 T 0.061 T 0.097 -0.079 3.616 1.49 0.744 0.578 4.209 -0.078505 NA 0.01 0.15407 0.089197 NA 0.087 NA 8.8766634 773 4 185637699 185637699 A G exonic MLF1IP NA nonsynonymous SNV MLF1IP:NM_024629:exon6:c.T470C:p.I157T exonic ENSG00000151725 NA nonsynonymous SNV ENSG00000151725:ENST00000281453:exon6:c.T470C:p.I157T,ENSG00000151725:ENST00000510146:exon6:c.T470C:p.I157T,ENSG00000151725:ENST00000514781:exon6:c.T383C:p.I128T,ENSG00000151725:ENST00000541971:exon6:c.T470C:p.I157T NA NA 4q35.1 NA NA NA NA rs6552804 0.14 0.14 0.146 0.144569 0.1481 0.001 0.1354 0.295 0.092 0.14 NA 0.15 0.29 0.1468 0.29 0.59 T 0.009 B 0.012 B 0.355 N 1.000 P 0.51 N 1.94 T -0.972 T 0.000 T 0.012 -0.577 1.405 -7.79 -2.532 -0.801 1.544 -0.577006 NA 0.44 0.163605 0.269632 NA 0.21 NA 8.8748284 773 1 167095163 167095163 G C exonic DUSP27 NA nonsynonymous SNV DUSP27:NM_001080426:exon5:c.G795C:p.E265D exonic ENSG00000198842 NA nonsynonymous SNV ENSG00000198842:ENST00000443333:exon5:c.G795C:p.E265D,ENSG00000198842:ENST00000271385:exon6:c.G795C:p.E265D,ENSG00000198842:ENST00000361200:exon6:c.G795C:p.E265D NA NA 1q24.1 NA NA NA NA rs267745 0.66 0.66 0.666 0.641973 0.4751 0.872 0.4597 0.888 0.3732 0.44 0.89 0.5 0.85 0.501 0.89 1 T 0.0 B 0.001 B 0.004 N 1.000 P -0.16 N -1.99 D -0.983 T 0.076 T 0.054 -0.291 2.612 -4.59 -0.793 -2.213 2.803 -0.290557 NA 1 0.482907 0.834544 NA 0.688 NA 8.8743264 773 4 69795626 69795626 C T exonic UGT2A3 NA nonsynonymous SNV UGT2A3:NM_024743:exon6:c.G1489A:p.A497T exonic ENSG00000135220 NA nonsynonymous SNV ENSG00000135220:ENST00000251566:exon6:c.G1489A:p.A497T,ENSG00000135220:ENST00000420231:exon7:c.G622A:p.A208T NA NA 4q13.2 NA NA NA NA rs13128286 0.68 0.68 0.698 0.676318 0.837 0.6905 0.6009 0.4871 0.8057 0.84 0.69 0.63 0.48 0.7662 0.86 0.1 T 0.63 P 0.544 P 0.086 N 0.999 P 2.06 M 0.12 T -0.914 T 0.000 T 0.092 1.004 9.1 2.22 1.248 -0.144 10.054 1.00397 NA 0.13 0.858605 0.545393 NA 0.609 NA 8.8715284 773 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=Max,USF-1,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 773 2 237032607 237032607 T G exonic AGAP1 NA synonymous SNV AGAP1:NM_014914:exon17:c.T2256G:p.A752A,AGAP1:NM_001037131:exon18:c.T2415G:p.A805A exonic ENSG00000157985 NA synonymous SNV ENSG00000157985:ENST00000428334:exon14:c.T1932G:p.A644A,ENSG00000157985:ENST00000336665:exon17:c.T2256G:p.A752A,ENSG00000157985:ENST00000409538:exon17:c.T3051G:p.A1017A,ENSG00000157985:ENST00000304032:exon18:c.T2415G:p.A805A NA NA 2q37.2 NA NA NA NA rs11895915 0.34 0.34 0.333 0.376997 0.2525 0.2778 0.1527 0.6725 0.3671 0.26 0.25 0.19 0.69 0.2924 0.69 . . . . . . . . 0.000 P . . . . -0.946 T 0.000 T . -0.519 1.63 -5.43 -1.764 -3.090 0.151 -0.519191 NA NA 0.251163 0.631639 NA 0.304 NA 8.8706036 773 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 773 6 42044945 42044945 G A exonic TAF8 NA synonymous SNV TAF8:NM_138572:exon8:c.G888A:p.R296R exonic ENSG00000137413 NA nonsynonymous SNV ENSG00000137413:ENST00000372982:exon9:c.G1010A:p.G337D,ENSG00000137413:ENST00000494547:exon9:c.G1010A:p.G337D NA NA 6p21.1 Score=731;Name=V$SEF1_C NA NA NA rs3800286 0.7 0.7 0.678 0.67492 0.6928 0.8988 0.7291 0.441 0.7035 0.7 0.89 0.73 0.47 0.7246 0.89 0 D 0.0 B 0.003 B . . 0.000 P . . . . -1.008 T 0.023 T . 3.596 18.31 -6.41 -1.955 -0.539 3.128 3.595707 3.595707 NA 0.712213 0.50155 NA 0.623 NA 8.870387 773 12 120156141 120156141 G A exonic CIT NA synonymous SNV CIT:NM_007174:exon31:c.C3951T:p.S1317S,CIT:NM_001206999:exon32:c.C4077T:p.S1359S exonic ENSG00000122966 NA synonymous SNV ENSG00000122966:ENST00000261833:exon31:c.C3951T:p.S1317S,ENSG00000122966:ENST00000392521:exon32:c.C4077T:p.S1359S Score=459;Name=lod=98 NA 12q24.23 NA NA NA NA rs278102 0.19 0.19 0.22 0.182508 0.2843 0.0109 0.1916 0.2383 0.1728 0.28 0.01 0.2 0.23 0.2277 0.29 . . . . . . . . 0.000 P . . . . -1.037 T 0.000 T . 1.641 11.45 -8.01 -1.770 -0.263 8.964 1.641188 1.641188 NA 0.289021 0.239673 NA 0.217 NA 8.8656456 774 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 774 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$MIF1_01 NA NA NA rs2014377 0.89 0.89 0.871 0.903954 0.7913 0.9226 0.8977 0.9924 0.8855 0.8 0.92 0.91 0.99 0.854 0.99 1 T 0.0 B 0.0 B 0.851 N 1.000 P -0.345 N -2.63 D -0.963 T 0.000 T 0.105 -1.194 0.075 2.09 0.490 1.156 7.236 -1.194238 NA 1 0.824029 0.966833 NA 0.877 NA 8.8640044 774 4 104013796 104013796 T C exonic BDH2 NA nonsynonymous SNV BDH2:NM_020139:exon4:c.A209G:p.N70S exonic ENSG00000164039 NA nonsynonymous SNV ENSG00000164039:ENST00000296424:exon4:c.A209G:p.N70S,ENSG00000164039:ENST00000511354:exon4:c.A209G:p.N70S,ENSG00000164039:ENST00000504285:exon5:c.A209G:p.N70S,ENSG00000164039:ENST00000509245:exon5:c.A209G:p.N70S Score=317;Name=lod=26 NA 4q24 NA NA NA NA rs1054707 0.13 0.13 0.12 0.158347 0.1501 0.1548 0.1772 0.0492 0.3047 0.15 0.14 0.17 0.05 0.1623 0.17 0.59 T 0.0 B 0.0 B 0.103 N 0.999 P -0.72 N 2.0 T -1.062 T 0.001 T 0.113 0.141 4.761 -2.62 -0.662 0.038 6.051 0.141483 NA 0.54 0.15814 0.066273 NA 0.145 NA 8.8627934 774 20 278806 278806 C T exonic ZCCHC3 NA synonymous SNV ZCCHC3:NM_033089:exon1:c.C579T:p.S193S exonic ENSG00000177764 NA synonymous SNV ENSG00000177764:ENST00000382352:exon1:c.C579T:p.S193S Score=532;Name=lod=193 NA 20p13 Score=860;Name=V$ZID_01 Name=HEY1,Pol2,Pol2(phosphoS2),NRSF,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 774 8 41563685 41563685 G A exonic ANK1 NA synonymous SNV ANK1:NM_000037:exon18:c.C2073T:p.G691G,ANK1:NM_001142446:exon18:c.C2172T:p.G724G,ANK1:NM_020475:exon18:c.C2073T:p.G691G,ANK1:NM_020476:exon18:c.C2073T:p.G691G,ANK1:NM_020477:exon18:c.C2073T:p.G691G exonic ENSG00000029534 NA synonymous SNV ENSG00000029534:ENST00000265709:exon18:c.C2172T:p.G724G,ENSG00000029534:ENST00000289734:exon18:c.C2073T:p.G691G,ENSG00000029534:ENST00000347528:exon18:c.C2073T:p.G691G,ENSG00000029534:ENST00000352337:exon18:c.C2073T:p.G691G,ENSG00000029534:ENST00000379758:exon18:c.C2073T:p.G691G,ENSG00000029534:ENST00000396942:exon18:c.C2073T:p.G691G,ENSG00000029534:ENST00000396945:exon18:c.C2073T:p.G691G NA NA 8p11.21 Score=901;Name=V$CREB_01 NA NA NA rs1137177 0.17 0.17 0.141 0.180911 0.2823 0.0794 0.2954 0.0159 0.3231 0.29 0.06 0.28 0.02 0.2538 0.29 . . . . . . . . 0.000 P . . . . -1.038 T 0.000 T . -0.874 0.494 -10.6 -3.094 -1.576 1.395 -0.874159 NA NA 0.267907 0.056741 NA 0.101 NA 8.8626596 774 16 336916 336916 C T exonic PDIA2 NA nonsynonymous SNV PDIA2:NM_006849:exon10:c.C1504T:p.P502S exonic ENSG00000185615 NA nonsynonymous SNV ENSG00000185615:ENST00000435833:exon4:c.C391T:p.P131S,ENSG00000185615:ENST00000219406:exon10:c.C1504T:p.P502S,ENSG00000185615:ENST00000404312:exon10:c.C1495T:p.P499S Score=289;Name=lod=20 NA 16p13.3 NA NA NA NA rs1048786 0.11 0.11 0.095 0.122804 0.1571 0.0992 0.0908 0.0552 0.226 0.15 0.1 0.09 0.05 0.1556 0.16 0.48 T 0.002 B 0.003 B 0.031 N 0.973 P 0.55 N 4.25 T -0.914 T 0.000 T 0.135 1.454 10.8 2.29 0.568 0.351 7.984 1.453672 1.453672 0.11 0.158296 0.069193 ID=COSM435210;OCCURENCE=1(breast) 0.13 NA 8.8623374 774 3 44948590 44948590 G A exonic TGM4 NA nonsynonymous SNV TGM4:NM_003241:exon10:c.G1225A:p.V409I exonic ENSG00000163810 NA nonsynonymous SNV ENSG00000163810:ENST00000296125:exon10:c.G1225A:p.V409I NA NA 3p21.31 NA NA Name=23 NA rs9876921 0.59 0.59 0.583 0.619409 0.4463 0.8849 0.5677 0.4743 0.7566 0.46 0.89 0.53 0.47 0.5521 0.89 0.16 T 0.002 B 0.002 B 0.145 N 1.000 P -0.305 N -1.26 T -0.961 T 0.000 T 0.027 -2.001 0.007 -4.07 -2.460 0.059 2.458 -2.000963 NA 0.9 0.472791 0.464594 NA 0.616 NA 8.8621424 774 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 774 2 237032703 237032703 T C exonic AGAP1 NA synonymous SNV AGAP1:NM_014914:exon17:c.T2352C:p.P784P,AGAP1:NM_001037131:exon18:c.T2511C:p.P837P exonic ENSG00000157985 NA synonymous SNV ENSG00000157985:ENST00000428334:exon14:c.T2028C:p.P676P,ENSG00000157985:ENST00000336665:exon17:c.T2352C:p.P784P,ENSG00000157985:ENST00000409538:exon17:c.T3147C:p.P1049P,ENSG00000157985:ENST00000304032:exon18:c.T2511C:p.P837P Score=639;Name=lod=528 NA 2q37.2 Score=896;Name=V$AREB6_01 NA NA NA rs8178994 0.36 0.36 0.361 0.396765 0.2545 0.2778 0.1542 0.7466 0.365 0.26 0.25 0.2 0.75 0.2988 0.75 . . . . . . . . 0.000 P . . . . . . . . . 0.875 8.548 3.6 0.337 0.586 5.654 0.874928 NA NA 0.251744 0.699955 NA 0.377 NA 8.8616226 774 20 43379264 43379264 A C exonic KCNK15 NA nonsynonymous SNV KCNK15:NM_022358:exon2:c.A778C:p.T260P exonic ENSG00000124249 NA nonsynonymous SNV ENSG00000124249:ENST00000372861:exon2:c.A778C:p.T260P NA NA 20q13.12 NA Name=E2F6,CTCF,E2F6_(H-50),CTCF_(SC-5916) Name=2 NA rs6073538 0.6 0.6 0.47 0.607228 0.4861 0.6657 0.5115 0.7927 0.4888 0.49 0.64 0.52 0.78 0.5347 0.78 0.23 T . . . . 0.030 N 1.000 P . . 2.61 T -0.986 T 0.000 T 0.014 1.104 9.503 -1.44 -0.410 -2.216 1.596 1.103688 NA 0.25 0.451959 0.703417 NA 0.261 NA 8.8605744 774 1 3511934 3511934 A G exonic MEGF6 NA nonsynonymous SNV MEGF6:NM_001409:exon3:c.T344C:p.M115T exonic ENSG00000162591 NA nonsynonymous SNV ENSG00000162591:ENST00000356575:exon3:c.T344C:p.M115T,ENSG00000162591:ENST00000485002:exon3:c.T344C:p.M115T Score=401;Name=lod=57 NA 1p36.32 NA NA NA NA rs7513275 0.2 0.2 0.158 0.227236 0.1451 0.3323 0.1859 0.2405 0.2147 0.11 0.31 0.17 0.21 0.19 0.31 0.92 T 0.0 B 0.0 B 0.702 N 0.000 P -0.205 N -1.75 D -1.101 T 0.000 T 0.051 -1.711 0.011 -0.333 -0.170 0.713 2.150 -1.711408 NA 0.91 0.139817 0.192481 NA 0.152 NA 8.8584164 774 X 140994280 140994280 A G exonic MAGEC1 NA nonsynonymous SNV MAGEC1:NM_005462:exon4:c.A1090G:p.T364A exonic ENSG00000155495 NA nonsynonymous SNV ENSG00000155495:ENST00000285879:exon4:c.A1090G:p.T364A NA NA Xq27.2 NA NA NA NA rs4824884 0.21 0.21 0.21622 NA NA NA NA NA NA 0.17 0.4 0.24 0.04 0.2552 0.4 0.04 D 0.414 B 0.039 B . . 1.000 P 0 N 3.88 T -0.891 T 0.000 T 0.015 -0.83 0.597 . 0.127 -1.689 2.877 -0.830432 NA 0 0.22042 0.077244 NA 0.116 NA 8.8577134 775 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 775 22 45767421 45767421 C T exonic SMC1B NA nonsynonymous SNV SMC1B:NM_148674:exon14:c.G2243A:p.C748Y exonic ENSG00000077935 NA nonsynonymous SNV ENSG00000077935:ENST00000357450:exon14:c.G2243A:p.C748Y,ENSG00000077935:ENST00000404354:exon14:c.G2243A:p.C748Y NA NA 22q13.31 NA NA NA NA rs56174639 0.11 0.11 0.1 0.0866613 0.1889 0.003 0.0908 0.0908 0.0593 0.2 0.01 0.11 0.1 0.1279 0.2 0.47 T 0.001 B 0.003 B 0.038 N 1.000 P -0.75 N -0.97 T -1.104 T 0.000 T 0.142 0.185 4.996 3.35 2.669 0.560 6.120 0.184893 NA 0.62 0.163469 0.086321 NA 0.138 NA 8.8530644 775 6 133052616 133052616 C T ncRNA_intronic VNN3 NA NA NA exonic ENSG00000093134 NA nonsynonymous SNV ENSG00000093134:ENST00000392393:exon3:c.G395A:p.C132Y,ENSG00000093134:ENST00000392394:exon3:c.G395A:p.C132Y NA NA 6q23.2 NA NA NA NA rs4895943 0.59 0.59 0.608 0.627596 0.5258 0.3879 0.6988 0.9183 0.5358 0.5 0.37 0.68 0.91 0.5773 0.91 0.25 T 0.0 B 0.0 B . . 1.000 P . . -1.56 D -1.040 T 0.118 T 0.132 -0.708 0.947 -7.27 -2.030 -1.697 2.669 -0.707627 NA 0.96 0.545 0.859283 NA 0.652 NA 8.8519 775 19 9084299 9084299 T C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon1:c.A7516G:p.T2506A exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon1:c.A7516G:p.T2506A NA NA 19p13.2 NA Name=NRSF Name=14 NA rs1609458 0.43 0.43 0.39 0.416733 0.4841 0.3264 0.5692 0.3411 0.4346 0.49 0.36 0.55 0.33 0.488 0.55 0 D 0.927 P 0.801 P . . . . . . 4.79 T -0.960 T 0.000 T 0.014 -0.497 1.72 0.225 0.257 0.793 . -0.496774 NA 1 0.509436 0.341888 ID=COSM1398148,COSM1398149;OCCURENCE=1(large_intestine) 0.435 NA 8.8517974 775 5 150946436 150946436 A G exonic FAT2 NA nonsynonymous SNV FAT2:NM_001447:exon1:c.T2057C:p.F686S exonic ENSG00000086570 NA nonsynonymous SNV ENSG00000086570:ENST00000261800:exon1:c.T2057C:p.F686S Score=251;Name=lod=14 NA 5q33.1 NA NA NA NA rs9324700 0.44 0.44 0.424 0.419928 0.4901 0.3571 0.4539 0.4418 0.3589 0.49 0.35 0.45 0.48 0.4679 0.52 0.94 T 0.0 B 0.0 B 0.002 N 1.000 P -0.895 N 1.07 T -0.934 T 0.000 T 0.043 -1.478 0.018 4.68 0.816 4.410 11.052 -1.477988 NA 0.81 0.523605 0.445983 NA 0.435 NA 8.8517284 775 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=CTCF,HA-E2F1,ETS1,KAP1,Mxi1_(bHLH),SREBP1,Sin3Ak-20,Max,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 775 2 234761225 234761225 C T exonic HJURP NA nonsynonymous SNV HJURP:NM_018410:exon3:c.G226A:p.E76K exonic ENSG00000123485 NA nonsynonymous SNV ENSG00000123485:ENST00000411486:exon3:c.G226A:p.E76K,ENSG00000123485:ENST00000414924:exon3:c.G226A:p.E76K,ENSG00000123485:ENST00000432087:exon3:c.G226A:p.E76K,ENSG00000123485:ENST00000441687:exon3:c.G226A:p.E76K,ENSG00000123485:ENST00000453122:exon3:c.G226A:p.E76K,ENSG00000123485:ENST00000454020:exon3:c.G200A:p.R67Q NA NA 2q37.1 NA NA NA NA rs2286430 0.4 0.4 0.349 0.346046 0.5159 0.3938 0.5086 0.1029 0.3354 0.54 0.41 0.49 0.11 0.4553 0.54 0.96 T 0.021 B 0.007 B 0.438 N 1.000 P 0 N 0.82 T -0.925 T 0.000 T 0.136 -0.599 1.323 -5.31 -1.191 -3.158 5.864 -0.598848 NA 0.22 0.511047 0.162733 NA 0.493 NA 8.8510864 775 17 7484101 7484101 C A exonic CD68 NA nonsynonymous SNV CD68:NM_001040059:exon4:c.C679A:p.Q227K,CD68:NM_001251:exon4:c.C760A:p.Q254K exonic ENSG00000129226 NA nonsynonymous SNV ENSG00000129226:ENST00000250092:exon4:c.C760A:p.Q254K,ENSG00000129226:ENST00000380498:exon4:c.C679A:p.Q227K NA NA 17p13.1 NA NA Name=3 NA rs9901673 0.16 0.16 0.151 0.157548 0.16 0.1567 0.121 0.1657 0.1708 0.16 0.18 0.12 0.17 0.1545 0.2 0.14 T 0.012 B 0.023 B 0.069 N 0.879 P 2.2 M 1.48 T -1.089 T 0.000 T 0.191 1.423 10.69 1.97 0.294 0.685 8.490 1.42254 1.42254 0.2 0.167791 0.17862 NA 0.138 NA 8.8510424 775 17 80789628 80789628 T C exonic ZNF750 NA nonsynonymous SNV ZNF750:NM_024702:exon2:c.A703G:p.M235V exonic ENSG00000141579 NA nonsynonymous SNV ENSG00000141579:ENST00000269394:exon2:c.A703G:p.M235V NA NA 17q25.3 NA NA NA NA rs8074277 0.13 0.13 0.105 0.124601 0.1362 0.0833 0.3026 0.1263 0.0266 0.15 0.08 0.22 0.11 0.1693 0.22 . . 0.001 B 0.003 B 0.815 N 0.978 P 0.4 N 2.56 T -0.948 T 0.000 T 0.036 0.872 8.536 -11.4 -2.288 -1.308 13.146 0.872179 NA 0.27 0.178372 0.130958 ID=COSM1178452;OCCURENCE=1(prostate) 0.123 NA 8.8494614 775 16 81213378 81213378 A G exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon13:c.T2132C:p.L711P exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000527937:exon2:c.T77C:p.L26P,ENSG00000166473:ENST00000531391:exon2:c.T77C:p.L26P,ENSG00000166473:ENST00000337114:exon13:c.T2132C:p.L711P,ENSG00000269323:ENST00000599697:exon13:c.T2132C:p.L711P Score=278;Name=lod=18 NA 16q23.2 NA NA NA NA rs4889261 0.84 0.84 0.848 0.80012 0.83 0.9623 0.8213 0.6936 0.7311 0.84 0.96 0.83 0.71 0.8196 0.96 1 T 0.0 B 0.0 B 0.004 N 0.001 P . . 2.73 T -0.941 T 0.000 T 0.489 -1.631 0.013 5.02 1.137 3.419 10.907 -1.631266 NA 0 0.834658 0.728205 NA 0.725 NA 8.8490754 775 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 775 1 12779618 12779618 T C exonic AADACL3 NA nonsynonymous SNV AADACL3:NM_001103170:exon2:c.T139C:p.S47P exonic ENSG00000188984 NA nonsynonymous SNV ENSG00000188984:ENST00000359318:exon2:c.T139C:p.S47P Score=355;Name=lod=37 NA 1p36.21 NA NA NA NA rs3010877 0.85 0.85 0.872 0.848043 0.826 0.7817 0.879 0.9228 0.816 0.83 0.81 0.87 0.92 0.8317 0.94 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.67 N 4.21 T -1.017 T 0.000 T 0.072 -1.068 0.175 4.44 1.108 2.226 9.747 -1.067753 NA 1 0.829535 0.915832 NA 0.804 NA 8.8460984 775 6 12120588 12120588 C T exonic HIVEP1 NA nonsynonymous SNV HIVEP1:NM_002114:exon4:c.C560T:p.T187M exonic ENSG00000095951 NA nonsynonymous SNV ENSG00000095951:ENST00000379388:exon4:c.C560T:p.T187M NA NA 6p24.1 NA NA NA NA rs2228209 0.22 0.22 0.208 0.207468 0.339 0.2232 0.245 0.0204 0.2822 0.33 0.23 0.24 0.03 0.3001 0.35 . . 0.982 D 0.549 P 0.490 N 1.000 P 1.78 L 2.88 T -0.998 T 0.016 T 0.087 2.128 13.07 3.68 0.651 0.644 4.923 2.128471 2.128471 0.08 0.348373 0.06652 NA 0.254 NA 8.8458604 776 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$TAL1ALPHAE47_01 Name=Pol2-4H8,Pol2 Name=14 NA rs2270576 0.24 0.24 0.202 0.233427 0.2664 0.1746 0.4063 0.1959 0.1881 0.26 0.16 0.4 0.2 0.275 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.028753 NA NA 0.280698 0.230595 NA 0.333 NA 8.8445686 776 1 117487711 117487711 T A exonic PTGFRN NA nonsynonymous SNV PTGFRN:NM_020440:exon3:c.T829A:p.S277T exonic ENSG00000134247 NA nonsynonymous SNV ENSG00000134247:ENST00000393203:exon3:c.T829A:p.S277T Score=317;Name=lod=26 NA 1p13.1 Score=767;Name=V$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 776 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 776 3 33195309 33195309 A G exonic SUSD5 NA nonsynonymous SNV SUSD5:NM_015551:exon5:c.T815C:p.L272S exonic ENSG00000173705 NA nonsynonymous SNV ENSG00000173705:ENST00000309558:exon5:c.T815C:p.L272S NA NA 3p22.3 NA NA NA NA rs61743461 0.19 0.19 0.173 0.200879 0.1551 0.1925 0.1902 0.2239 0.2331 0.15 0.2 0.19 0.24 0.1751 0.24 0.46 T 0.11 B 0.016 B 0.297 N 1.000 P 2.015 M 3.27 T -0.937 T 0.000 T 0.098 0.227 5.226 -2.95 -0.713 -0.086 6.670 0.227208 NA 0.27 0.16032 0.198475 NA 0.203 NA 8.8428134 776 4 79387586 79387586 A G exonic FRAS1 NA synonymous SNV FRAS1:NM_025074:exon50:c.A7254G:p.K2418K exonic ENSG00000138759 NA synonymous SNV ENSG00000138759:ENST00000264895:exon50:c.A7254G:p.K2418K Score=535;Name=lod=200 NA 4q21.21 Score=867;Name=V$GATA1_03 NA NA NA rs34840208 0.29 0.29 0.283 0.313698 0.2654 0.4702 0.268 0.1059 0.5153 0.27 0.49 0.26 0.11 0.312 0.49 . . . . . . . . 0.000 P . . . . -0.900 T 0.000 T . 0.734 7.897 2.18 0.342 0.354 8.630 0.733586 NA NA 0.248389 0.124439 NA 0.203 NA 8.8408776 776 22 43459846 43459846 G A exonic TTLL1 NA synonymous SNV TTLL1:NM_012263:exon7:c.C720T:p.L240L exonic ENSG00000100271 NA synonymous SNV ENSG00000100271:ENST00000266254:exon7:c.C720T:p.L240L,ENSG00000100271:ENST00000331018:exon7:c.C720T:p.L240L Score=517;Name=lod=168 NA 22q13.2 NA NA NA NA rs1052160 0.17 0.17 0.149 0.148562 0.2803 0.001 0.2392 0.0779 0.1963 0.28 0.01 0.28 0.09 0.2481 0.3 . . . . . . . . 0.000 P . . . . -0.987 T 0.000 T . 1.323 10.34 3.89 0.845 1.410 4.377 1.322681 1.322681 NA 0.297674 0.107808 NA 0.167 NA 8.8405926 776 17 649067 649067 A G exonic GEMIN4 NA nonsynonymous SNV GEMIN4:NM_015721:exon2:c.T2216C:p.I739T exonic ENSG00000179409 NA nonsynonymous SNV ENSG00000179409:ENST00000576778:exon1:c.T2183C:p.I728T,ENSG00000179409:ENST00000319004:exon2:c.T2216C:p.I739T NA NA 17p13.3 NA NA NA NA rs1062923 0.08 0.08 0.067 0.0742812 0.1918 0.002 0.0865 0.0113 0.1043 0.19 NA 0.08 0.01 0.1335 0.19 0.16 T 0.001 B 0.002 B 0.612 N 1.000 P 1.245 L 3.23 T -0.986 T 0.000 T 0.023 -0.633 1.201 -2.19 -0.811 1.057 12.007 -0.632507 NA 0.01 0.169197 0.034166 NA 0.065 NA 8.8388364 776 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 776 10 134145314 134145314 A G upstream LRRC27 NA NA NA exonic ENSG00000165752 NA nonsynonymous SNV ENSG00000165752:ENST00000368620:exon1:c.T38C:p.V13A NA NA 10q26.3 NA Name=HEY1,Pol2-4H8,TAF1,E2F6_(H-50),Pol2(phosphoS2),Pol2,ZBTB7A_(SC-34508),TBP,c-Myc Name=14 NA rs11146335 0.46 0.46 0.441 0.505391 0.3777 0.4861 0.5274 0.6014 0.5112 0.38 0.46 0.48 0.57 0.4336 0.57 0 D . . . . . . 1.000 P . . . . -0.941 T 0.000 T 0.13 0.57 7.079 -1.57 -1.157 -0.940 2.216 0.569769 NA 0 0.350578 0.56621 NA 0.246 NA 8.838122 776 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 776 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 776 1 155106227 155106227 A T exonic EFNA1 NA nonsynonymous SNV EFNA1:NM_182685:exon3:c.A410T:p.D137V,EFNA1:NM_004428:exon4:c.A476T:p.D159V exonic ENSG00000169242 NA nonsynonymous SNV ENSG00000169242:ENST00000368406:exon3:c.A410T:p.D137V,ENSG00000169242:ENST00000368407:exon4:c.A476T:p.D159V Score=472;Name=lod=110 NA 1q22 Score=786;Name=V$COMP1_01 NA NA NA rs4745 0.31 0.31 0.307 0.319888 0.5209 0.1964 0.3141 0.152 0.4714 0.5 0.14 0.39 0.13 0.4485 0.53 0.32 T 0.0 B 0.0 B 0.988 N 0.006 P -0.345 N -3.16 D -0.901 T 0.262 T 0.067 1.412 10.66 -0.259 -0.223 -0.443 3.636 1.411824 1.411824 0.15 0.528721 0.173854 NA 0.304 NA 8.8352124 777 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=GATA-2,CTCF 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 777 6 66044927 66044927 T C exonic EYS NA nonsynonymous SNV EYS:NM_198283:exon10:c.A1712G:p.Q571R,EYS:NM_001142800:exon11:c.A1712G:p.Q571R,EYS:NM_001142801:exon11:c.A1712G:p.Q571R exonic ENSG00000188107 NA nonsynonymous SNV ENSG00000188107:ENST00000370616:exon8:c.A1712G:p.Q571R,ENSG00000188107:ENST00000342421:exon9:c.A1712G:p.Q571R,ENSG00000188107:ENST00000370618:exon11:c.A1712G:p.Q571R,ENSG00000188107:ENST00000370621:exon11:c.A1712G:p.Q571R,ENSG00000188107:ENST00000393380:exon11:c.A1712G:p.Q571R,ENSG00000188107:ENST00000503581:exon11:c.A1712G:p.Q571R NA NA 6q12 NA NA NA NA rs61753610 0.12 0.12 0.101 0.124201 0.17 0.121 0.1902 0.0083 0.1902 0.17 0.12 0.17 0.01 0.1569 0.17 0.46 T 0.386 B 0.086 B . . 1.000 P 0 N 1.99 T -0.914 T 0.008 T 0.083 0.813 8.268 2.23 0.326 1.502 6.730 0.812815 NA 0.08 0.172674 0.033591 NA 0.116 NA 8.8337594 777 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 777 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 777 X 153149715 153149715 C G intergenic L1CAM,AVPR2 dist=8316;dist=20814 NA NA exonic ENSG00000196987 NA nonsynonymous SNV ENSG00000196987:ENST00000357566:exon3:c.C40G:p.P14A NA NA Xq28 NA Name=ZNF263 NA NA rs6643650 NA NA NA NA NA NA NA NA NA NA NA NA NA 1 0.72 0 D . . . . . . 1.000 P . . . . -0.891 T 0.115 T 0.21 -0.345 2.368 -5.81 -2.677 . 5.925 -0.345033 NA NA NA NA NA 0.732 NA 8.8333334 777 11 58491921 58491921 A T exonic GLYAT NA nonsynonymous SNV GLYAT:NM_005838:exon2:c.T49A:p.S17T,GLYAT:NM_201648:exon2:c.T49A:p.S17T exonic ENSG00000149124 NA nonsynonymous SNV ENSG00000149124:ENST00000278400:exon2:c.T49A:p.S17T,ENSG00000149124:ENST00000344743:exon2:c.T49A:p.S17T,ENSG00000149124:ENST00000529732:exon2:c.T49A:p.S17T NA NA 11q12.1 NA NA NA NA rs10896818 0.21 0.21 0.17 0.218251 0.161 0.2609 0.2695 0.1997 0.2219 0.19 0.25 0.22 0.17 0.1935 0.25 0.25 T 0.234 B 0.164 B 0.293 N 1.000 P 2.415 M 2.25 T -1.005 T 0.000 T 0.052 0.48 6.603 -2.71 -0.444 -0.191 14.403 0.479714 NA 0.03 0.145634 0.188551 NA 0.21 NA 8.8331994 777 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 777 15 58256127 58256127 C T exonic ALDH1A2 NA nonsynonymous SNV ALDH1A2:NM_170697:exon7:c.G754A:p.V252I,ALDH1A2:NM_170696:exon8:c.G928A:p.V310I,ALDH1A2:NM_003888:exon9:c.G1042A:p.V348I,ALDH1A2:NM_001206897:exon10:c.G979A:p.V327I exonic ENSG00000128918 NA nonsynonymous SNV ENSG00000128918:ENST00000559517:exon7:c.G754A:p.V252I,ENSG00000128918:ENST00000347587:exon8:c.G928A:p.V310I,ENSG00000128918:ENST00000249750:exon9:c.G1042A:p.V348I,ENSG00000128918:ENST00000558231:exon9:c.G955A:p.V319I,ENSG00000128918:ENST00000537372:exon10:c.G979A:p.V327I Score=577;Name=lod=296 NA 15q21.3 NA NA NA NA rs4646626 0.41 0.41 0.409 0.372804 0.5358 0.3065 0.3991 0.3676 0.2618 0.52 0.31 0.39 0.37 0.4462 0.52 0.55 T 0.011 B 0.005 B 0.000 N 1.000 P 1.18 L -1.01 T -0.926 T 0.000 T 0.04 1.94 12.44 4.49 0.495 1.981 8.206 1.93977 1.93977 0.41 0.520037 0.377737 NA 0.464 NA 8.8312964 777 1 156213921 156213921 C T exonic PAQR6 NA nonsynonymous SNV PAQR6:NM_001272109:exon5:c.G367A:p.E123K,PAQR6:NM_001272112:exon5:c.G367A:p.E123K,PAQR6:NM_001272113:exon5:c.G367A:p.E123K,PAQR6:NM_001272106:exon6:c.G583A:p.E195K,PAQR6:NM_001272110:exon7:c.G367A:p.E123K,PAQR6:NM_001272111:exon7:c.G367A:p.E123K,PAQR6:NM_024897:exon7:c.G787A:p.E263K exonic ENSG00000160781 NA nonsynonymous SNV ENSG00000160781:ENST00000335852:exon7:c.G787A:p.E263K,ENSG00000160781:ENST00000356983:exon8:c.G787A:p.E263K,ENSG00000160781:ENST00000360733:exon8:c.G787A:p.E263K NA NA 1q22 NA NA NA NA rs7513351 0.2 0.2 0.165 0.219249 0.1481 0.256 0.3026 0.1604 0.2751 0.14 0.24 0.32 0.15 0.1914 0.32 0 D 0.154 B 0.048 B . . 1.000 P . . 1.15 T -0.977 T 0.021 T 0.074 3.319 17.16 -3.56 -0.222 0.235 2.575 3.319012 3.319012 0 0.164302 0.15842 NA 0.123 NA 8.8295314 777 9 101748234 101748234 G A exonic COL15A1 NA nonsynonymous SNV COL15A1:NM_001855:exon3:c.G488A:p.R163H exonic ENSG00000204291 NA nonsynonymous SNV ENSG00000204291:ENST00000375001:exon3:c.G488A:p.R163H Score=405;Name=lod=59 NA 9q22.33 NA NA NA NA rs2075662 0.23 0.23 0.222 0.244808 0.1551 0.1974 0.2637 0.3374 0.2474 0.17 0.22 0.25 0.33 0.1932 0.33 0.25 T 0.1 B 0.059 B 0.002 N 0.089 P 1.5 L 0.08 T -1.005 T 0.000 T 0.076 1.313 10.3 1.22 0.020 2.443 8.038 1.312663 1.312663 0.19 0.155698 0.315252 NA 0.152 NA 8.8293354 777 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 777 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 777 3 66419956 66419956 C T exonic SLC25A26 NA nonsynonymous SNV SLC25A26:NM_001164796:exon7:c.C359T:p.T120M,SLC25A26:NM_173471:exon9:c.C623T:p.T208M exonic ENSG00000144741 NA nonsynonymous SNV ENSG00000144741:ENST00000336733:exon7:c.C359T:p.T120M,ENSG00000144741:ENST00000354883:exon9:c.C623T:p.T208M Score=541;Name=lod=211 NA 3p14.1 NA NA NA NA rs13874 0.65 0.65 0.653 0.679912 0.4761 0.7659 0.621 0.8396 0.6268 0.48 0.74 0.62 0.82 0.5875 0.82 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.15 N -1.19 T -0.919 T 0.000 T 0.388 -0.935 0.369 5.49 0.922 5.324 11.481 -0.935221 NA 1 0.441977 0.781207 NA 0.609 NA 8.8277564 777 6 31496925 31496925 G A exonic MCCD1 NA nonsynonymous SNV MCCD1:NM_001011700:exon1:c.G134A:p.S45N exonic ENSG00000204511 NA nonsynonymous SNV ENSG00000204511:ENST00000376191:exon1:c.G134A:p.S45N NA NA 6p21.33 NA Name=Pol2-4H8,Pol2,Pol2(phosphoS2),ZNF263 Name=2 NA rs3093983 0.87 0.87 0.882 0.878794 0.83 0.9028 0.8833 0.8782 0.9018 0.83 0.91 0.88 0.89 0.8562 0.91 0.14 T 0.087 B 0.029 B 0.137 N 1.000 P 0.695 N 1.82 T -1.035 T 0.016 T 0.027 2.99 15.97 2.98 0.968 0.288 7.299 2.98984 2.98984 0.23 0.820229 0.878808 NA 0.717 NA 8.8269044 777 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 778 3 197495334 197495334 G A exonic FYTTD1 NA nonsynonymous SNV FYTTD1:NM_032288:exon3:c.G260A:p.R87H,FYTTD1:NM_001011537:exon4:c.G182A:p.R61H exonic ENSG00000122068 NA nonsynonymous SNV ENSG00000122068:ENST00000241502:exon3:c.G260A:p.R87H,ENSG00000122068:ENST00000418169:exon3:c.G260A:p.R87H,ENSG00000122068:ENST00000424384:exon3:c.G59A:p.R20H,ENSG00000122068:ENST00000426031:exon3:c.G59A:p.R20H,ENSG00000122068:ENST00000428738:exon3:c.G59A:p.R20H,ENSG00000122068:ENST00000415708:exon4:c.G182A:p.R61H Score=420;Name=lod=68 NA 3q29 Score=793;Name=V$STAT5A_02 NA NA NA rs3205525 0.78 0.78 0.754 0.751997 0.8469 0.9415 0.8156 0.4387 0.8374 0.87 0.93 0.81 0.42 0.8182 0.93 0.12 T 0.073 B 0.022 B 0.003 N 0.000 P 0.69 N 0.44 T -1.045 T 0.000 T 0.421 2.002 12.65 2.88 0.714 2.145 8.403 2.002436 2.002436 0.11 0.843372 0.464594 NA 0.732 NA 8.8248614 778 7 151684256 151684256 A G exonic GALNTL5 NA nonsynonymous SNV GALNTL5:NM_145292:exon5:c.A548G:p.E183G exonic ENSG00000106648 NA nonsynonymous SNV ENSG00000106648:ENST00000392800:exon5:c.A548G:p.E183G,ENSG00000106648:ENST00000431418:exon6:c.A548G:p.E183G NA NA 7q36.1 NA NA NA NA rs61729490 0.21 0.21 0.186 0.220647 0.16 0.2063 0.2334 0.2587 0.2372 0.16 0.19 0.25 0.26 0.1891 0.26 0.41 T 0.014 B 0.019 B 0.514 N 1.000 P 0.91 L -0.06 T -1.040 T 0.000 T 0.069 1.365 10.49 -2.57 -0.301 2.000 5.072 1.364965 1.364965 0.42 0.159535 0.22424 NA 0.217 NA 8.8246984 778 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 778 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 778 3 41841716 41841716 A C exonic ULK4 NA nonsynonymous SNV ULK4:NM_017886:exon20:c.T1918G:p.S640A exonic ENSG00000168038 NA nonsynonymous SNV ENSG00000168038:ENST00000301831:exon20:c.T1918G:p.S640A Score=433;Name=lod=77 NA 3p22.1 NA NA NA NA rs4973986 0.86 0.86 0.865 0.870008 0.8231 0.754 0.9164 0.9947 0.8364 0.81 0.77 0.9 0.99 0.8512 0.99 1 T 0.0 B 0.0 B 0.037 N 0.000 P -1.095 N -0.09 T -0.929 T 0.000 T 0.051 0.406 6.203 5.32 1.394 2.121 15.852 0.405563 NA 1 0.835163 0.969951 NA 0.928 NA 8.8238704 778 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 778 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 778 10 134898530 134898530 G A intergenic LOC399829,GPR123 dist=108529;dist=2879 NA NA exonic ENSG00000197177 NA nonsynonymous SNV ENSG00000197177:ENST00000607359:exon8:c.G1592A:p.R531Q NA NA 10q26.3 NA NA NA NA rs138358765 0.0014 0.0014 0.001 0.00139776 0.003 NA 0.0029 0.0015 NA 0.0013 NA 0.0028 0.002 0.0034 0.0054 0 D 0.106 B 0.002 B . . 0.711 N . . . . -1.048 T 0.042 T . -0.674 1.057 -1.78 -1.772 -2.785 0.339 -0.673938 NA 0 0.005444 0.00287 NA NA NA 8.8214894 778 1 19611241 19611241 T C exonic AKR7A3 NA nonsynonymous SNV AKR7A3:NM_012067:exon5:c.A643G:p.N215D exonic ENSG00000162482 NA nonsynonymous SNV ENSG00000162482:ENST00000361640:exon5:c.A643G:p.N215D Score=471;Name=lod=109 NA 1p36.13 Score=820;Name=V$FREAC2_01 NA NA NA rs1738023 0.8 0.8 0.772 0.807708 0.8579 0.8502 0.8646 0.6415 0.8967 0.85 0.84 0.88 0.63 0.8247 0.88 1 T 0.0 B 0.001 B 0.000 N 1.000 P . . 1.89 T -0.957 T 0.000 T 0.009 -1.422 0.021 3.02 0.497 1.232 8.979 -1.421962 NA 1 0.83093 0.661664 NA 0.71 NA 8.8198034 778 9 138378856 138378856 A G exonic PPP1R26 NA nonsynonymous SNV PPP1R26:NM_014811:exon4:c.A2500G:p.N834D exonic ENSG00000196422 NA nonsynonymous SNV ENSG00000196422:ENST00000605660:exon1:c.A2500G:p.N834D,ENSG00000196422:ENST00000401470:exon3:c.A2500G:p.N834D,ENSG00000196422:ENST00000604351:exon3:c.A2500G:p.N834D,ENSG00000196422:ENST00000356818:exon4:c.A2500G:p.N834D,ENSG00000196422:ENST00000605286:exon4:c.A2500G:p.N834D Score=494;Name=lod=136 NA 9q34.3 NA NA NA NA rs2078266 0.88 0.88 0.876 0.894169 0.8419 0.7837 0.938 0.9932 0.8967 0.84 0.8 0.92 0.99 0.8498 0.99 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.895 N 3.84 T -0.983 T 0.000 T 0.035 -0.436 1.971 4.77 1.023 6.085 12.265 -0.436438 NA 1 0.82305 0.965486 NA 0.899 NA 8.8185834 778 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 778 6 74493432 74493432 A C exonic CD109 NA nonsynonymous SNV CD109:NM_001159588:exon18:c.A1877C:p.Y626S,CD109:NM_001159587:exon19:c.A2108C:p.Y703S,CD109:NM_133493:exon19:c.A2108C:p.Y703S exonic ENSG00000156535 NA nonsynonymous SNV ENSG00000156535:ENST00000422508:exon18:c.A1877C:p.Y626S,ENSG00000156535:ENST00000287097:exon19:c.A2108C:p.Y703S,ENSG00000156535:ENST00000437994:exon19:c.A2108C:p.Y703S Score=304;Name=lod=23 NA 6q13 NA NA NA NA rs10455097 0.54 0.54 0.549 0.515575 0.495 0.5268 0.5072 0.6551 0.3425 0.48 0.52 0.52 0.67 0.5111 0.67 0.62 T 0.0 B 0.001 B 0.354 N 1.000 P -1.475 N 1.91 T -0.976 T 0.007 T 0.059 -1.977 0.007 5.16 1.413 0.728 10.623 -1.977407 NA 0.86 0.511047 0.644803 NA 0.638 NA 8.8161864 779 12 53509933 53509933 C T exonic SOAT2 NA nonsynonymous SNV SOAT2:NM_003578:exon7:c.C761T:p.T254I exonic ENSG00000167780 NA nonsynonymous SNV ENSG00000167780:ENST00000301466:exon7:c.C761T:p.T254I,ENSG00000167780:ENST00000542365:exon7:c.C761T:p.T254I Score=340;Name=lod=32 NA 12q13.13 NA NA NA NA rs2272296 0.28 0.28 0.283 0.26258 0.172 0.3165 0.2061 0.416 0.1329 0.18 0.35 0.2 0.4 0.1921 0.4 0.46 T 0.002 B 0.007 B 0.034 N 0.985 P -0.15 N -0.79 T -0.978 T 0.000 T 0.087 0.461 6.504 -2.65 -0.384 0.383 11.847 0.461214 NA 0.51 0.154302 0.350885 NA 0.283 NA 8.8149314 779 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=TAL1_(SC-12984),PU.1,CEBPB 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 779 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 779 3 44884647 44884647 C A exonic KIF15 NA nonsynonymous SNV KIF15:NM_020242:exon30:c.C3616A:p.L1206M exonic ENSG00000163808 NA nonsynonymous SNV ENSG00000163808:ENST00000425755:exon21:c.C2521A:p.L841M,ENSG00000163808:ENST00000326047:exon30:c.C3616A:p.L1206M Score=349;Name=lod=35 NA 3p21.31 NA NA NA NA rs3804583 0.54 0.54 0.505 0.527756 0.5159 0.8492 0.5303 0.1573 0.7076 0.51 0.88 0.56 0.18 0.5201 0.88 0.2 T 0.053 B 0.021 B 0.421 N 0.494 P 1.525 L 1.75 T -0.985 T 0.000 T 0.355 3.121 16.43 3.52 1.367 0.526 9.700 3.120522 3.120522 0.19 0.483837 0.212892 NA 0.399 NA 8.8134964 779 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 779 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 779 10 105762591 105762591 G A exonic SLK NA nonsynonymous SNV SLK:NM_014720:exon9:c.G1655A:p.C552Y exonic ENSG00000065613 NA nonsynonymous SNV ENSG00000065613:ENST00000335753:exon9:c.G1655A:p.C552Y,ENSG00000065613:ENST00000369755:exon9:c.G1655A:p.C552Y NA NA 10q24.33 NA NA NA NA rs805657 0.2 0.2 0.214 0.210264 0.168 0.0962 0.2147 0.3616 0.1636 0.18 0.09 0.2 0.37 0.1857 0.37 0.29 T 0.001 B 0.0 B 0.216 N 1.000 P -0.345 N -0.29 T -1.066 T 0.000 T 0.018 -2.818 0 -3.86 -0.956 -0.097 4.736 -2.818079 NA 0.22 0.166977 0.30867 NA 0.167 NA 8.8126564 779 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 779 3 151046308 151046308 G A exonic P2RY13 NA nonsynonymous SNV P2RY13:NM_176894:exon2:c.C536T:p.T179M exonic ENSG00000181631 NA nonsynonymous SNV ENSG00000181631:ENST00000325602:exon2:c.C536T:p.T179M Score=317;Name=lod=26 NA 3q25.1 NA NA Name=41 NA rs1466684 0.87 0.87 0.878 0.895168 0.827 0.8472 0.9092 0.972 0.9008 0.83 0.82 0.9 0.97 0.8636 0.97 1 T 0.001 B 0.0 B 0.000 N 0.000 P -1.54 N 1.15 T -0.950 T 0.000 T 0.035 -1.295 0.039 4.28 0.374 5.052 10.080 -1.294707 NA 1 0.832558 0.947571 NA 0.848 NA 8.8101754 779 9 37692654 37692654 A C exonic FRMPD1 NA nonsynonymous SNV FRMPD1:NM_014907:exon2:c.A16C:p.T6P exonic ENSG00000070601 NA nonsynonymous SNV ENSG00000070601:ENST00000359927:exon2:c.A16C:p.T6P,ENSG00000070601:ENST00000377765:exon2:c.A16C:p.T6P,ENSG00000070601:ENST00000539465:exon2:c.A16C:p.T6P Score=591;Name=lod=335 NA 9p13.2 NA NA Name=5 NA rs3747539 0.16 0.16 0.145 0.141573 0.1879 0.1647 0.0937 0.0953 0.1667 0.2 0.15 0.13 0.12 0.1558 0.2 0.19 T 0.001 B 0.001 B 0.807 N 0.778 P 0.55 N 3.24 T -0.990 T 0.000 T 0.32 1.712 11.68 1.58 0.372 0.539 5.981 1.711596 1.711596 0.23 0.179535 0.091466 NA 0.188 NA 8.8100984 779 6 90448092 90448092 C T exonic MDN1 NA nonsynonymous SNV MDN1:NM_014611:exon33:c.G4676A:p.S1559N exonic ENSG00000112159 NA nonsynonymous SNV ENSG00000112159:ENST00000369393:exon33:c.G4676A:p.S1559N,ENSG00000112159:ENST00000428876:exon33:c.G4676A:p.S1559N Score=637;Name=lod=515 NA 6q15 Score=859;Name=V$FOXJ2_02 NA NA NA rs4140446 0.88 0.88 0.859 0.878794 0.837 0.997 0.902 0.795 0.8967 0.84 1 0.88 0.79 0.8556 1 0.49 T 0.001 B 0.002 B 0.423 N 1.000 P 0.59 N 1.09 T -0.974 T 0.021 T 0.003 0.972 8.966 -2.32 -1.025 0.515 9.413 0.971868 NA 0.63 0.830814 0.793917 NA 0.848 NA 8.8099194 779 6 29523676 29523676 C G exonic UBD NA nonsynonymous SNV UBD:NM_006398:exon2:c.G479C:p.C160S exonic ENSG00000213886 NA nonsynonymous SNV ENSG00000213886:ENST00000377050:exon2:c.G479C:p.C160S NA NA 6p22.1 NA NA NA NA rs8337 0.84 0.84 0.843 NA NA NA NA NA NA 0.68 0.94 0.84 0.97 0.8012 0.97 0 D 0.0 B 0.0 B 0.161 N 1.000 P -0.805 N 2.83 T -0.855 T 0.002 T 0.049 -0.964 0.317 -10.6 -7.065 -7.998 6.969 -0.964 NA 0.35 0.723781 0.938451 NA 0.899 NA 8.8083524 779 14 52481917 52481917 C T exonic NID2 NA synonymous SNV NID2:NM_007361:exon15:c.G3105A:p.R1035R exonic ENSG00000087303 NA synonymous SNV ENSG00000087303:ENST00000216286:exon15:c.G3105A:p.R1035R,ENSG00000087303:ENST00000541773:exon15:c.G2802A:p.R934R NA NA 14q22.1 Score=710;Name=V$P53_01 NA NA NA rs946615 0.46 0.46 0.422 0.459465 0.2406 0.7063 0.5245 0.5045 0.3231 0.23 0.71 0.51 0.48 0.3486 0.71 . . . . . . . . 0.009 P . . . . -0.986 T 0.000 T . 0.767 8.058 2.8 0.285 -1.434 4.708 0.767452 NA NA 0.269186 0.472537 ID=COSM433121;OCCURENCE=1(breast) 0.42 NA 8.8082806 779 2 231406680 231406680 T C exonic SP100 NA nonsynonymous SNV SP100:NM_001080391:exon28:c.T2477C:p.M826T exonic ENSG00000067066 NA nonsynonymous SNV ENSG00000067066:ENST00000340126:exon28:c.T2477C:p.M826T NA NA 2q37.1 NA NA Name=45 NA rs836237 0.7 0.7 0.694 0.727436 0.8708 0.4603 0.6945 0.7345 0.8691 0.87 0.44 0.7 0.73 0.7995 0.87 0.64 T 0.004 B 0.011 B . . 1.000 P 0 N 1.65 T -1.037 T 0.000 T 0.126 -0.977 0.297 -8.27 -2.100 -2.342 5.873 -0.976512 NA 0.17 0.85499 0.758576 NA 0.768 NA 8.8080434 779 2 143798189 143798189 A G exonic KYNU NA nonsynonymous SNV KYNU:NM_003937:exon13:c.A1234G:p.K412E,KYNU:NM_001199241:exon14:c.A1234G:p.K412E exonic ENSG00000115919 NA nonsynonymous SNV ENSG00000115919:ENST00000264170:exon13:c.A1234G:p.K412E,ENSG00000115919:ENST00000409512:exon14:c.A1234G:p.K412E NA NA 2q22.2 NA NA NA NA rs9013 0.18 0.18 0.167 0.175719 0.1879 0.2738 0.0908 0.1422 0.1677 0.17 0.28 0.11 0.14 0.1653 0.28 1 T 0.0 B 0.001 B 0.070 N 1.000 P 0.99 L 0.63 T -1.052 T 0.000 T 0.134 -2.138 0.005 4.36 0.904 1.857 12.635 -2.138038 NA 0.98 0.172209 0.139355 NA 0.116 NA 8.8079244 779 1 14143003 14143003 A G exonic PRDM2 NA nonsynonymous SNV PRDM2:NM_001135610:exon7:c.A593G:p.Q198R exonic ENSG00000116731 NA nonsynonymous SNV ENSG00000116731:ENST00000505823:exon3:c.A101G:p.Q34R,ENSG00000116731:ENST00000503842:exon4:c.A101G:p.Q34R,ENSG00000116731:ENST00000376048:exon7:c.A593G:p.Q198R NA NA 1p36.21 Score=818;Name=V$ARP1_01 NA NA NA rs1046331 0.83 0.83 0.823 0.821286 0.8569 0.7073 0.8573 0.9319 0.727 0.85 0.7 0.89 0.92 0.8256 0.93 0.49 T 0.0 B 0.0 B . . 1.000 P . . 0.56 T -1.038 T 0.000 T . 0.127 4.681 -4.33 -1.681 -1.880 7.200 0.12658 NA 0.29 0.843605 0.934635 NA 0.87 NA 8.8072284 779 9 130698029 130698029 G C exonic DPM2 NA nonsynonymous SNV DPM2:NM_003863:exon4:c.C227G:p.T76S exonic ENSG00000136908 NA nonsynonymous SNV ENSG00000136908:ENST00000314392:exon4:c.C227G:p.T76S NA NA 9q34.11 NA Name=eGFP-JunD,eGFP-GATA2,MafK_(ab50322),Pol2,GATA-1 Name=38 NA rs7997 0.71 0.71 0.668 0.683506 0.8708 0.4484 0.8545 0.6467 0.6616 0.86 0.43 0.84 0.68 0.7873 0.87 1 T 0.0 B 0.0 B . . 0.000 P . . 0.17 T -0.941 T 0.000 T 0.065 -1.343 0.03 2.74 0.058 0.141 4.079 -1.343316 NA 1 0.86814 0.679982 NA 0.761 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116901.1;CLNDSDB=.;CLNDSDBID=. 8.8070934 779 15 65157482 65157482 C T exonic PLEKHO2 NA nonsynonymous SNV PLEKHO2:NM_001195059:exon5:c.C718T:p.P240S,PLEKHO2:NM_025201:exon6:c.C868T:p.P290S exonic ENSG00000241839 NA nonsynonymous SNV ENSG00000241839:ENST00000323544:exon6:c.C868T:p.P290S NA NA 15q22.31 NA Name=EBF,NFKB,EBF1_(C-8) Name=8 NA rs2010875 0.33 0.33 0.324 0.303115 0.1461 0.7589 0.2983 0.1581 0.1943 0.15 0.79 0.27 0.14 0.2283 0.79 0.91 T 0.002 B 0.006 B 0.143 N 1.000 P 0.205 N 1.58 T -0.958 T 0.000 T 0.026 -2.483 0.003 1.78 0.593 0.212 2.328 -2.482521 NA 0.47 0.152396 0.152816 NA 0.167 NA 8.8065374 779 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 779 21 44323720 44323720 C T exonic NDUFV3 NA stopgain NDUFV3:NM_021075:exon3:c.C598T:p.R200X exonic ENSG00000160194 NA stopgain ENSG00000160194:ENST00000354250:exon3:c.C598T:p.R200X NA NA 21q22.3 NA NA NA NA rs4148974 0.06 0.06 0.051 0.0523163 0.0755 0.0804 0.0591 0.0038 0.0603 0.08 0.08 0.07 0.0041 0.063 0.08 0.78 T . . . . 0.912 N 1.000 N . . . . . . . . . 2.794 15.3 -4.99 -0.810 -0.397 9.733 2.793667 2.793667 0.56 0.056395 0.00931 NA 0.043 NA 8.805105 780 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 780 19 40901614 40901614 A G exonic PRX NA nonsynonymous SNV PRX:NM_181882:exon7:c.T2645C:p.V882A exonic ENSG00000105227 NA nonsynonymous SNV ENSG00000105227:ENST00000324001:exon7:c.T2645C:p.V882A NA NA 19q13.2 NA NA NA NA rs268671 0.5 0.5 0.491 0.531949 0.506 0.2401 0.4784 0.8427 0.4775 0.49 0.22 0.53 0.79 0.5069 0.79 0.49 T 0.0 B 0.0 B 0.298 N 1.000 P -0.55 N 5.32 T -1.137 T 0.000 T 0.007 -1.539 0.016 2.7 0.119 2.680 7.230 -1.538715 NA 0.79 0.517791 0.789151 NA 0.507 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118075.2;CLNDSDB=.;CLNDSDBID=. 8.8026424 780 16 334890 334890 G A exonic PDIA2 NA nonsynonymous SNV PDIA2:NM_006849:exon4:c.G553A:p.E185K exonic ENSG00000185615 NA nonsynonymous SNV ENSG00000185615:ENST00000219406:exon4:c.G553A:p.E185K,ENSG00000185615:ENST00000404312:exon4:c.G544A:p.E182K Score=371;Name=lod=43 NA 16p13.3 NA NA NA NA rs419949 0.12 0.12 0.124 0.102037 0.1839 0.001 0.1023 0.1641 0.0378 0.18 NA 0.11 0.19 0.1487 0.2 0.2 T 0.024 B 0.052 B 0.045 N 0.582 P 2.07 M 1.92 T -1.055 T 0.000 T 0.126 0.404 6.194 0.305 -0.003 0.523 5.083 0.403887 NA 0.09 0.19842 0.146973 NA 0.138 NA 8.8023134 780 6 31778272 31778272 G A exonic HSPA1L NA nonsynonymous SNV HSPA1L:NM_005527:exon2:c.C1478T:p.T493M exonic ENSG00000204390 NA nonsynonymous SNV ENSG00000204390:ENST00000375654:exon2:c.C1478T:p.T493M,ENSG00000204390:ENST00000417199:exon2:c.C1478T:p.T493M Score=476;Name=lod=115 NA 6p21.33 NA Name=ERalpha_a NA NA rs2227956 0.88 0.88 0.892 0.877196 0.8429 0.7728 0.9236 0.9856 0.8405 0.83 0.83 0.94 0.97 0.8652 0.97 0.1 T 0.132 B 0.052 B 0.001 N 1.000 P 0.995 L 5.45 T -0.962 T 0.001 T 0.069 1.342 10.41 -4.17 -1.349 0.551 14.407 1.341867 1.341867 0.07 0.82314 0.961643 NA 0.891 NA 8.8020934 780 22 23503170 23503170 A G exonic RAB36 NA nonsynonymous SNV RAB36:NM_004914:exon10:c.A922G:p.N308D exonic ENSG00000100228 NA nonsynonymous SNV ENSG00000100228:ENST00000341989:exon9:c.A856G:p.N286D,ENSG00000100228:ENST00000263116:exon10:c.A922G:p.N308D Score=463;Name=lod=102 NA 22q11.23 Score=884;Name=V$ZID_01 NA NA NA rs5759612 0.54 0.54 0.541 0.555312 0.5119 0.6448 0.4654 0.5265 0.6104 0.51 0.63 0.49 0.53 0.5218 0.63 1 T 0.0 B 0.0 B 0.035 N 1.000 P -1.5 N 0.38 T -0.911 T 0.000 T 0.01 -0.536 1.563 3.59 0.457 0.812 9.911 -0.536108 NA 0.03 0.498605 0.54562 NA 0.623 NA 8.8010284 780 X 151821277 151821277 T A exonic GABRQ NA nonsynonymous SNV GABRQ:NM_018558:exon9:c.T1432A:p.F478I exonic ENSG00000147402 NA nonsynonymous SNV ENSG00000147402:ENST00000370306:exon9:c.T1432A:p.F478I NA NA Xq28 NA NA NA NA rs3810651 0.46 0.46 NA NA NA NA NA NA NA 0.56 0.32 0.72 0.29 0.534 0.72 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.355 N -0.99 T -1.105 T 0.000 T 0.059 -1.127 0.12 -9.19 -4.339 -0.939 6.847 -1.126593 NA 0 NA NA NA 0.297 NA 8.7993334 780 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 780 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 780 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 780 14 23306048 23306048 C T exonic MMP14 NA nonsynonymous SNV MMP14:NM_004995:exon1:c.C22T:p.P8S exonic ENSG00000157227 NA nonsynonymous SNV ENSG00000157227:ENST00000311852:exon1:c.C22T:p.P8S,ENSG00000157227:ENST00000547279:exon1:c.C22T:p.P8S Score=571;Name=lod=278 NA 14q11.2 Score=889;Name=V$SPZ1_01 Name=Pol2 NA NA rs1042703 0.89 0.89 0.873 0.867612 0.839 0.998 0.866 0.8336 0.8098 0.83 1 0.88 0.85 0.8573 1 0.64 T 0.0 B 0.0 B 0.927 N 1.000 P 0 N 2.55 T -0.993 T 0.000 T 0.226 1.865 12.19 2.51 0.168 -0.291 1.727 1.864527 1.864527 1 0.839228 0.825238 ID=COSM432856;OCCURENCE=2(breast) 0.877 NA 8.7978054 780 6 151939181 151939181 G A exonic CCDC170 NA nonsynonymous SNV CCDC170:NM_025059:exon11:c.G2047A:p.V683I exonic ENSG00000120262 NA nonsynonymous SNV ENSG00000120262:ENST00000239374:exon11:c.G2047A:p.V683I,ENSG00000120262:ENST00000367290:exon11:c.G2068A:p.V690I Score=519;Name=lod=171 NA 6q25.1 NA NA NA NA rs3734804 0.5 0.5 0.526 0.53155 0.504 0.4276 0.3804 0.7564 0.4703 0.48 0.4 0.4 0.72 0.4982 0.76 1 T 0.0 B 0.002 B 0.001 N 1.000 P -2.075 N 3.56 T -0.948 T 0.001 T 0.043 -0.213 2.969 3.55 0.146 1.248 7.425 -0.212916 NA 1 0.533565 0.755556 NA 0.522 NA 8.7975684 780 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 781 3 132218623 132218623 G T exonic DNAJC13 NA nonsynonymous SNV DNAJC13:NM_015268:exon38:c.G4387T:p.A1463S exonic ENSG00000138246 NA nonsynonymous SNV ENSG00000138246:ENST00000260818:exon38:c.G4387T:p.A1463S Score=621;Name=lod=446 NA 3q22.1 NA NA NA NA rs3762672 0.73 0.73 0.753 0.739018 0.4891 0.8839 0.513 0.9796 0.682 0.5 0.94 0.54 0.97 0.5693 0.97 1 T 0.0 B 0.0 B 0.000 N 0.999 P -2.165 N 0.91 T -0.949 T 0.000 T 0.106 1.017 9.154 5.17 0.901 5.799 12.582 1.017079 NA 1 0.480233 0.889242 NA 0.79 NA 8.7947004 781 2 21225753 21225753 C T exonic APOB NA nonsynonymous SNV APOB:NM_000384:exon29:c.G12541A:p.E4181K exonic ENSG00000084674 NA nonsynonymous SNV ENSG00000084674:ENST00000233242:exon29:c.G12541A:p.E4181K NA NA 2p24.1 NA Name=Pol2 NA NA rs1042031 0.15 0.15 0.141 0.127796 0.2127 0.0446 0.1196 0.1611 0.0869 0.21 0.04 0.16 0.2 0.153 0.21 0.32 T 0.012 B 0.009 B 0.494 N 1.000 P 0.895 L 5.76 T -0.988 T 0.000 T 0.06 2.373 13.89 0.147 -0.260 -0.080 5.434 2.373145 2.373145 0.36 0.175349 0.14798 NA 0.167 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116381.2;CLNDSDB=.;CLNDSDBID=. 8.7922844 781 22 21988599 21988599 G A exonic CCDC116 NA nonsynonymous SNV CCDC116:NM_152612:exon3:c.G361A:p.G121R exonic ENSG00000161180 NA nonsynonymous SNV ENSG00000161180:ENST00000292779:exon3:c.G361A:p.G121R NA NA 22q11.21 NA NA NA NA rs371513 0.13 0.13 0.155 0.129593 0.2018 0.0417 0.1556 0.1135 0.1493 0.19 0.04 0.18 0.12 0.1496 0.19 . . 0.049 B 0.018 B 0.784 N 1.000 P -0.14 N 2.01 T -0.922 T 0.000 T 0.051 -1.718 0.011 -2.88 -0.552 -1.162 8.782 -1.717935 NA 0.4 0.190233 0.108488 NA 0.072 NA 8.7917004 781 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 781 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 781 19 18375846 18375846 G A exonic KIAA1683 NA nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.C2504T:p.P835L,KIAA1683:NM_001145305:exon3:c.C2366T:p.P789L,KIAA1683:NM_025249:exon3:c.C2504T:p.P835L exonic ENSG00000130518 NA nonsynonymous SNV ENSG00000130518:ENST00000392413:exon3:c.C2504T:p.P835L,ENSG00000130518:ENST00000600328:exon3:c.C2504T:p.P835L,ENSG00000130518:ENST00000600359:exon3:c.C2366T:p.P789L NA NA 19p13.11 NA NA NA NA rs2277921 0.27 0.27 0.299 0.30012 0.1581 0.3165 0.2478 0.4554 0.2566 0.15 0.29 0.23 0.46 0.2219 0.46 0.37 T 0.0 B 0.0 B 0.012 N 1.000 P -1.04 N 4.42 T -1.012 T 0.000 T 0.074 -0.714 0.927 4.29 0.625 1.552 6.905 -0.713913 NA 0.07 0.163721 0.42079 NA 0.246 NA 8.7896124 781 11 59940599 59940599 T A exonic MS4A6A NA nonsynonymous SNV MS4A6A:NM_022349:exon6:c.A553T:p.T185S,MS4A6A:NM_152851:exon6:c.A449T:p.N150I,MS4A6A:NM_001247999:exon7:c.A637T:p.T213S,MS4A6A:NM_152852:exon7:c.A553T:p.T185S exonic ENSG00000110077 NA nonsynonymous SNV ENSG00000110077:ENST00000533023:exon4:c.A257T:p.N86I,ENSG00000110077:ENST00000426738:exon5:c.A418T:p.T140S,ENSG00000110077:ENST00000323961:exon6:c.A553T:p.T185S,ENSG00000110077:ENST00000412309:exon6:c.A637T:p.T213S,ENSG00000110077:ENST00000420732:exon6:c.A449T:p.N150I,ENSG00000110077:ENST00000528851:exon6:c.A553T:p.T185S,ENSG00000110077:ENST00000529054:exon7:c.A637T:p.T213S,ENSG00000110077:ENST00000530839:exon7:c.A553T:p.T185S NA NA 11q12.2 NA NA NA NA rs7232 0.2 0.2 0.191 0.214058 0.3608 0.0575 0.2277 0.0401 0.4499 0.37 0.07 0.26 0.04 0.3131 0.37 0.08 T 0.827 P 0.419 B 0.212 N 1.000 P . . 4.39 T -0.979 T 0.000 T 0.187 2.051 12.82 -5.11 -0.877 -1.954 2.293 2.051084 2.051084 0.04 0.370198 0.097229 NA 0.312 NA 8.7892354 781 14 21770730 21770730 A G exonic RPGRIP1 NA nonsynonymous SNV RPGRIP1:NM_020366:exon4:c.A574G:p.K192E exonic ENSG00000092200 NA nonsynonymous SNV ENSG00000092200:ENST00000206660:exon4:c.A574G:p.K192E,ENSG00000092200:ENST00000400017:exon4:c.A574G:p.K192E,ENSG00000092200:ENST00000556336:exon4:c.A574G:p.K192E,ENSG00000092200:ENST00000557771:exon4:c.A574G:p.K192E NA NA 14q11.2 NA NA NA NA rs6571751 0.45 0.45 0.451 0.477236 0.501 0.3224 0.5101 0.472 0.5961 0.5 0.33 0.5 0.49 0.548 0.5 1 T 0.0 B 0.0 B 0.098 N 1.000 P -1.24 N 1.51 T -0.934 T 0.000 T 0.12 -2.347 0.004 3.11 0.668 1.415 6.557 -2.347412 NA 1 0.498303 0.447994 NA 0.464 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086258.1;CLNDSDB=.;CLNDSDBID=. 8.7860304 781 16 1271890 1271890 G T exonic TPSG1 NA nonsynonymous SNV TPSG1:NM_012467:exon6:c.C864A:p.F288L exonic ENSG00000116176 NA nonsynonymous SNV ENSG00000116176:ENST00000234798:exon6:c.C864A:p.F288L NA NA 16p13.3 NA NA NA NA rs1004041 0.63 0.63 0.601 0.613419 0.5209 0.8472 0.6297 0.5946 0.4816 0.51 0.89 0.59 0.54 0.5481 0.89 1 T . . . . . . 1.000 P . . -2.15 D -0.960 T 0.000 T 0.03 -0.294 2.595 2.49 0.744 1.439 8.075 -0.29427 NA 1 0.478362 0.591925 NA 0.638 NA 8.7859714 781 17 35771468 35771468 C T exonic TADA2A NA nonsynonymous SNV TADA2A:NM_001166105:exon2:c.C16T:p.P6S,TADA2A:NM_001488:exon2:c.C16T:p.P6S,TADA2A:NM_133439:exon2:c.C16T:p.P6S exonic ENSG00000108264 NA nonsynonymous SNV ENSG00000108264:ENST00000225396:exon2:c.C16T:p.P6S,ENSG00000108264:ENST00000394395:exon2:c.C16T:p.P6S,ENSG00000108264:ENST00000417170:exon2:c.C16T:p.P6S,ENSG00000108264:ENST00000490992:exon2:c.C16T:p.P6S,ENSG00000108264:ENST00000586023:exon2:c.C16T:p.P6S,ENSG00000108264:ENST00000587420:exon2:c.C16T:p.P6S,ENSG00000108264:ENST00000589153:exon2:c.C16T:p.P6S Score=476;Name=lod=115 NA 17q12 NA NA NA NA rs7211875 0.84 0.84 0.847 0.854832 0.83 0.7391 0.8761 0.9539 0.8507 0.83 0.75 0.88 0.96 0.8597 0.96 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.41 N 2.15 T -0.951 T 0.000 T 0.044 -0.049 3.765 4.79 0.986 1.970 7.476 -0.048816 NA 1 0.858256 0.931684 NA 0.906 NA 8.7853774 782 2 85549868 85549868 A G exonic TGOLN2 NA nonsynonymous SNV TGOLN2:NM_001206841:exon4:c.T1322C:p.L441P exonic ENSG00000152291 NA stoploss ENSG00000152291:ENST00000409015:exon4:c.T1363C:p.X455Q NA NA 2p11.2 NA NA NA NA rs4240199 0.77 0.77 0.764 0.778954 0.6004 0.9563 0.8026 0.8086 0.7229 0.59 0.95 0.78 0.83 0.6764 0.95 0.15 T . . . . . . 0.000 P . . 2.42 T -1.042 T 0.000 T . 1.019 9.164 -3.58 -1.204 -2.373 4.181 1.019382 NA 0.22 0.605636 0.789712 NA 0.659 NA 8.7842307 782 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 782 3 128204951 128204951 C T exonic GATA2 NA nonsynonymous SNV GATA2:NM_001145662:exon3:c.G490A:p.A164T,GATA2:NM_032638:exon3:c.G490A:p.A164T,GATA2:NM_001145661:exon4:c.G490A:p.A164T exonic ENSG00000179348 NA nonsynonymous SNV ENSG00000179348:ENST00000341105:exon3:c.G490A:p.A164T,ENSG00000179348:ENST00000430265:exon3:c.G490A:p.A164T,ENSG00000179348:ENST00000487848:exon4:c.G490A:p.A164T NA NA 3q21.3 NA Name=Egr-1 NA NA rs2335052 0.24 0.24 0.227 0.232827 0.1829 0.378 0.2406 0.2156 0.1524 0.18 0.37 0.22 0.21 0.2056 0.37 0.41 T 0.013 B 0.025 B 0.004 N 0.729 P -0.175 N -4.32 D -1.065 T 0.000 T 0.117 1.801 11.98 1.83 0.911 0.622 9.555 1.801096 1.801096 0.34 0.162209 0.167045 ID=COSM445531;OCCURENCE=1(breast),1(large_intestine) 0.152 NA 8.7826244 782 19 55824332 55824332 T G exonic TMEM150B NA nonsynonymous SNV TMEM150B:NM_001085488:exon8:c.A597C:p.L199F exonic ENSG00000180061 NA nonsynonymous SNV ENSG00000180061:ENST00000326652:exon8:c.A597C:p.L199F,ENSG00000180061:ENST00000438693:exon8:c.A597C:p.L199F NA NA 19q13.42 NA NA NA NA rs7246479 0.53 0.53 0.585 0.585663 0.507 0.1845 0.5504 0.9758 0.5777 0.5 0.17 0.58 0.97 0.5291 0.97 1 T 0.0 B 0.002 B 0.013 N 1.000 P -1.115 N 1.12 T -0.896 T 0.000 T 0.064 -2.288 0.004 -9.11 -3.831 -4.614 2.838 -2.287974 NA 1 0.515812 0.903464 ID=COSM440356;OCCURENCE=2(breast) 0.616 NA 8.7814214 782 1 23696152 23696152 G A ncRNA_exonic C1orf213 NA NA NA exonic ENSG00000249087 NA nonsynonymous SNV ENSG00000249087:ENST00000335648:exon1:c.G362A:p.R121Q Score=284;Name=lod=19 NA 1p36.12 NA Name=SP1,ZNF263,TAF1 Name=123 NA rs665977 0.83 0.83 0.814 0.781749 0.9145 0.9067 0.889 0.5106 0.8067 0.92 0.9 0.86 0.59 0.8854 0.92 0 D 0.0 B 0.0 B . . 0.105 P . . . . -1.057 T 0.000 T 0.032 0.858 8.474 0.567 -0.343 1.030 3.196 0.858323 NA NA 0.918837 0.592147 NA 0.819 NA 8.781263 782 9 101056122 101056122 T C exonic GABBR2 NA nonsynonymous SNV GABBR2:NM_005458:exon18:c.A2605G:p.T869A exonic ENSG00000136928 NA nonsynonymous SNV ENSG00000136928:ENST00000259455:exon18:c.A2605G:p.T869A Score=606;Name=lod=387 NA 9q22.33 NA NA NA NA rs10985765 0.23 0.23 0.236 0.234625 0.1859 0.1587 0.2219 0.3835 0.1708 0.19 0.17 0.23 0.35 0.1938 0.38 0.75 T 0.0 B 0.0 B 0.001 N 0.997 P 0.345 N -1.11 T -1.032 T 0.000 T 0.02 1.802 11.98 1.54 0.104 1.132 7.627 1.80158 1.80158 0.39 0.172674 0.383341 NA 0.29 NA 8.7809594 782 18 34647322 34647322 G T exonic KIAA1328 NA nonsynonymous SNV KIAA1328:NM_020776:exon7:c.G1046T:p.G349V exonic ENSG00000150477 NA nonsynonymous SNV ENSG00000150477:ENST00000586501:exon1:c.G194T:p.G65V,ENSG00000150477:ENST00000586135:exon4:c.G194T:p.G65V,ENSG00000150477:ENST00000543923:exon6:c.G722T:p.G241V,ENSG00000150477:ENST00000280020:exon7:c.G1046T:p.G349V,ENSG00000150477:ENST00000435985:exon7:c.G194T:p.G65V,ENSG00000150477:ENST00000591619:exon7:c.G1034T:p.G345V NA NA 18q12.2 NA NA NA NA rs72890602 NA NA NA 0.0145767 0.0268 0.001 0.0173 NA 0.0337 NA NA NA NA 0.0264 NA 0.26 T 0.867 P 0.361 B 0.667 N 1.000 N 0.55 N 0.97 T -1.042 T 0.058 T 0.186 -0.135 3.34 -2.29 -0.123 0.135 2.810 -0.134834 NA 0.32 NA NA NA NA NA 8.7801334 782 6 33288271 33288271 A G exonic DAXX NA synonymous SNV DAXX:NM_001254717:exon3:c.T912C:p.Y304Y,DAXX:NM_001141969:exon4:c.T1137C:p.Y379Y,DAXX:NM_001141970:exon4:c.T1173C:p.Y391Y,DAXX:NM_001350:exon4:c.T1137C:p.Y379Y exonic ENSG00000204209 NA synonymous SNV ENSG00000204209:ENST00000414083:exon3:c.T912C:p.Y304Y,ENSG00000204209:ENST00000266000:exon4:c.T1137C:p.Y379Y,ENSG00000204209:ENST00000374542:exon4:c.T1137C:p.Y379Y Score=532;Name=lod=193 NA 6p21.32 Score=899;Name=V$OCT1_06 Name=CEBPB,c-Fos,JunD,eGFP-JunD,c-Jun,eGFP-JunB,GATA-2,HA-E2F1 Name=111 NA rs1059231 0.24 0.24 0.18 0.220847 0.2922 0.2619 0.3415 0.0182 0.2935 0.3 0.26 0.38 0.03 0.2955 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295722 NA NA 0.298837 0.062869 NA 0.297 NA 8.7801296 782 15 34016274 34016274 G A exonic RYR3 NA nonsynonymous SNV RYR3:NM_001036:exon45:c.G6809A:p.G2270E,RYR3:NM_001243996:exon45:c.G6809A:p.G2270E exonic ENSG00000198838 NA nonsynonymous SNV ENSG00000198838:ENST00000389232:exon45:c.G6809A:p.G2270E,ENSG00000198838:ENST00000415757:exon45:c.G6809A:p.G2270E NA NA 15q14 Score=779;Name=V$PAX2_01 NA NA NA rs6495228 0.88 0.88 0.854 0.88099 0.839 0.9851 0.9265 0.8268 0.8579 0.83 0.98 0.91 0.82 0.8625 0.98 0.8 T 0.0 B 0.0 B 0.654 N 1.000 P -0.125 N -3.97 D -0.943 T 0.000 T 0.032 1.621 11.38 5.39 1.070 0.082 11.182 1.620616 1.620616 0.5 0.851883 0.856404 NA 0.841 NA 8.7799504 782 1 7897133 7897133 A G exonic PER3 NA nonsynonymous SNV PER3:NM_016831:exon20:c.A3446G:p.H1149R exonic ENSG00000049246 NA nonsynonymous SNV ENSG00000049246:ENST00000361923:exon20:c.A3446G:p.H1149R,ENSG00000049246:ENST00000377532:exon20:c.A3473G:p.H1158R NA NA 1p36.23 NA NA NA NA rs10462021 0.12 0.12 0.093 0.121006 0.1968 0.0079 0.2133 0.0711 0.1616 0.18 0.01 0.17 0.1 0.1659 0.19 0.44 T 0.002 B 0.003 B 0.119 N 1.000 P 0.55 N 2.57 T -0.990 T 0.000 T 0.025 1.104 9.503 -8.51 -2.475 0.007 1.389 1.10372 NA 0.05 0.191163 0.096005 NA 0.065 NA 8.7794704 782 19 55526345 55526345 T G exonic GP6 NA nonsynonymous SNV GP6:NM_001256017:exon7:c.A910C:p.N304H,GP6:NM_001083899:exon8:c.A968C:p.K323T,GP6:NM_016363:exon8:c.A964C:p.N322H exonic ENSG00000088053 NA nonsynonymous SNV ENSG00000088053:ENST00000333884:exon7:c.A910C:p.N304H,ENSG00000088053:ENST00000310373:exon8:c.A968C:p.K323T,ENSG00000088053:ENST00000417454:exon8:c.A964C:p.N322H NA Name=Platelet aggregation 19q13.42 NA Name=Pol2,HA-E2F1,GABP,ELF1_(SC-631) Name=20 NA rs1671152 0.86 0.86 0.824 0.823083 0.8588 0.9673 0.9164 0.6672 0.7822 0.85 0.98 0.91 0.69 0.8467 0.98 1 T 0.0 B 0.0 B . . 1.000 P . . 6.62 T -0.916 T 0.000 T 0.039 -1.371 0.026 2.65 0.680 0.067 6.934 -1.370532 NA 1 0.848551 0.690209 ID=COSM1396466;OCCURENCE=2(large_intestine) 0.761 NA 8.7792824 782 2 11359120 11359120 G T exonic ROCK2 NA nonsynonymous SNV ROCK2:NM_004850:exon10:c.C1292A:p.T431N exonic ENSG00000134318 NA nonsynonymous SNV ENSG00000134318:ENST00000401753:exon6:c.C563A:p.T188N,ENSG00000134318:ENST00000261535:exon10:c.C1292A:p.T431N,ENSG00000134318:ENST00000315872:exon10:c.C1292A:p.T431N Score=472;Name=lod=111 NA 2p25.1 NA NA NA NA rs2230774 0.43 0.43 0.384 0.39976 0.5268 0.3889 0.5634 0.2035 0.4294 0.52 0.41 0.55 0.2 0.4981 0.55 0.64 T 0.0 B 0.0 B 0.021 N 0.999 P -1.795 N 1.05 T -0.919 T 0.000 T 0.065 -0.147 3.282 4.39 0.396 1.218 6.436 -0.146893 NA 0.54 0.529854 0.271944 ID=COSM148799;OCCURENCE=1(stomach) 0.493 NA 8.7785794 782 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 782 2 27801418 27801418 C A exonic C2orf16 NA nonsynonymous SNV C2orf16:NM_032266:exon1:c.C1979A:p.A660E exonic ENSG00000221843 NA nonsynonymous SNV ENSG00000221843:ENST00000408964:exon1:c.C1979A:p.A660E NA NA 2p23.3 NA NA NA NA rs1919126 0.66 0.66 0.647 0.659545 0.498 0.8462 0.6888 0.7368 0.5082 0.49 0.86 0.63 0.73 0.5605 0.86 0.24 T 0.0 B 0.001 B . . 1.000 P 0.805 L 3.05 T -1.065 T 0.000 T 0.043 -0.078 3.617 -3.09 -1.023 -1.056 1.854 -0.078286 NA 0.27 0.496723 0.693753 NA 0.565 NA 8.7781104 782 14 105415748 105415748 G A exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.C6040T:p.P2014S exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.C6040T:p.P2014S NA NA 14q32.33 NA NA NA NA rs118171013 0.3 0.3 0.222 0.300319 0.5447 0.0903 0.3631 0.1377 0.4407 0.54 0.06 0.38 0.16 0.4598 0.55 0.86 T 0.002 B 0.0 B . . 1.000 P -2.785 N 3.73 T -0.890 T 0.000 T 0.029 -1.134 0.114 -7.44 -1.485 -3.592 1.455 -1.134216 NA 0.98 0.551601 0.208592 NA 0.232 NA 8.7772324 782 19 58117083 58117083 A G exonic ZNF530 NA nonsynonymous SNV ZNF530:NM_020880:exon3:c.A190G:p.T64A exonic ENSG00000183647 NA nonsynonymous SNV ENSG00000183647:ENST00000332854:exon3:c.A190G:p.T64A,ENSG00000183647:ENST00000600619:exon3:c.A190G:p.T64A,ENSG00000183647:ENST00000597700:exon4:c.A91G:p.T31A NA NA 19q13.43 NA NA NA NA rs9677004 0.29 0.29 0.264 0.297524 0.173 0.3244 0.2133 0.4932 0.1933 0.17 0.32 0.21 0.5 0.2174 0.5 0.99 T 0.0 B 0.0 B . . 1.000 P 0.295 N 3.51 T -0.950 T 0.000 T 0.012 -2.096 0.006 -3.39 -1.446 -0.373 5.137 -2.095964 NA 1 0.166047 0.441443 NA 0.268 NA 8.7768864 782 5 160047759 160047759 C T exonic ATP10B NA nonsynonymous SNV ATP10B:NM_025153:exon15:c.G2011A:p.G671R exonic ENSG00000118322 NA nonsynonymous SNV ENSG00000118322:ENST00000520108:exon4:c.G835A:p.G279R,ENSG00000118322:ENST00000327245:exon15:c.G2011A:p.G671R NA NA 5q34 NA NA NA NA rs61734666 0.01 0.01 0.006 0.00938498 0.0189 NA 0.0144 0.0015 0.0164 0.01 NA 0.01 NA 0.0152 0.023 . . 0.784 P 0.393 B 0.705 N 1.000 N 1.485 L -1.92 D -0.635 T 0.311 T 0.138 -0.178 3.133 1.21 0.589 -0.215 5.643 -0.177939 NA 0.5 0.022935 0.003685 NA NA NA 8.7762984 782 2 240946766 240946766 T C exonic NDUFA10 NA synonymous SNV NDUFA10:NM_004544:exon7:c.A771G:p.Q257Q exonic ENSG00000130414 NA nonsynonymous SNV ENSG00000130414:ENST00000443626:exon5:c.A569G:p.N190S NA NA 2q37.3 NA NA NA NA rs13848 0.41 0.41 0.377 0.35623 0.4115 0.4702 0.4424 0.2867 0.2147 0.44 0.44 0.46 0.3 0.4064 0.46 0.05 D . . . . . . 1.000 P . . -3.43 D -1.226 T 0.000 T . -0.277 2.675 1.66 0.139 -0.303 7.645 -0.276745 NA 0.03 0.406701 0.291553 NA 0.442 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117700.2;CLNDSDB=.;CLNDSDBID=. 8.775399 783 22 36587704 36587704 T C exonic APOL4 NA unknown UNKNOWN exonic ENSG00000100336 NA nonsynonymous SNV ENSG00000100336:ENST00000352371:exon6:c.A472G:p.M158V,ENSG00000100336:ENST00000332987:exon7:c.A463G:p.M155V NA NA 22q12.3 NA NA Name=62 NA rs132700 0.29 0.29 0.28 0.298123 0.3191 0.122 0.2752 0.3926 0.3466 0.34 0.12 0.29 0.41 0.2941 0.41 0.82 T 0.0 B 0.0 B 0.942 N 1.000 P -1.895 N 4.1 T -0.972 T 0.000 T 0.039 -1.275 0.044 -1.66 -1.242 -2.025 5.365 -1.274947 NA 0.48 0.278618 0.381938 ID=COSM149286;OCCURENCE=1(stomach) 0.283 NA 8.7748487 783 7 92985252 92985252 T C exonic CCDC132 NA synonymous SNV CCDC132:NM_017667:exon27:c.T2635C:p.L879L,CCDC132:NM_001257998:exon28:c.T2545C:p.L849L exonic ENSG00000004766 NA synonymous SNV ENSG00000004766:ENST00000535481:exon17:c.T1795C:p.L599L,ENSG00000004766:ENST00000305866:exon27:c.T2635C:p.L879L,ENSG00000004766:ENST00000544910:exon28:c.T2545C:p.L849L Score=713;Name=lod=1057 NA 7q21.3 Score=899;Name=V$CEBP_Q2 NA NA NA rs2374639 0.32 0.32 0.305 0.329872 0.2942 0.2788 0.3199 0.385 0.3517 0.29 0.3 0.34 0.39 0.3091 0.39 . . . . . . . . 0.000 P . . . . -0.929 T 0.000 T . 1.028 9.201 1.71 0.521 4.791 3.124 1.028464 NA NA 0.289014 0.338772 NA 0.232 NA 8.7743526 783 3 39228043 39228043 T G exonic XIRP1 NA nonsynonymous SNV XIRP1:NM_001198621:exon2:c.A2894C:p.H965P,XIRP1:NM_194293:exon2:c.A2894C:p.H965P exonic ENSG00000168334 NA nonsynonymous SNV ENSG00000168334:ENST00000340369:exon2:c.A2894C:p.H965P,ENSG00000168334:ENST00000396251:exon2:c.A2894C:p.H965P NA NA 3p22.2 NA NA Name=5 NA rs11711871 0.11 0.11 0.1 0.101438 0.2008 0.0615 0.1023 0.0091 0.1646 0.21 0.08 0.11 0.01 0.1696 0.21 1 T 0.0 B 0.0 B 0.135 N 1.000 P -1.78 N 4.09 T -0.951 T 0.000 T 0.075 -2.541 0.003 3.2 0.668 0.284 4.125 -2.541499 NA 1 0.18907 0.038584 NA 0.109 NA 8.7738634 783 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 783 13 25029295 25029295 C T exonic PARP4 NA nonsynonymous SNV PARP4:NM_006437:exon22:c.G2618A:p.S873N exonic ENSG00000102699 NA nonsynonymous SNV ENSG00000102699:ENST00000381989:exon22:c.G2618A:p.S873N NA NA 13q12.12 NA NA NA NA rs7140044 0.23 0.23 0.212 0.224641 0.1769 0.3194 0.147 0.2118 0.2485 0.18 0.34 0.17 0.22 0.1965 0.34 0.5 T 0.0 B 0.0 B 0.084 N 1.000 P 0 N 4.56 T -0.902 T 0.000 T 0.031 0.435 6.364 -6.65 -1.983 -0.436 4.287 0.435339 NA 0.52 0.188605 0.206537 NA 0.275 NA 8.7713284 783 10 73121913 73121913 A G exonic SLC29A3 NA nonsynonymous SNV SLC29A3:NM_018344:exon6:c.A976G:p.I326V exonic ENSG00000198246 NA nonsynonymous SNV ENSG00000198246:ENST00000373189:exon6:c.A976G:p.I326V NA NA 10q22.1 Score=926;Name=V$GATA3_01 NA NA NA rs2487068 0.81 0.81 0.821 0.792732 0.8608 0.6964 0.6412 0.9425 0.727 0.85 0.68 0.72 0.95 0.8246 0.95 1 T 0.002 B 0.029 B 0.354 N 1.000 P 0.385 N 0.05 T -0.954 T 0.000 T 0.034 -0.953 0.337 -9.0 -1.717 -0.591 5.708 -0.952775 NA 1 0.877093 0.921925 NA 0.884 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118385.2;CLNDSDB=.;CLNDSDBID=. 8.7708404 783 1 226026406 226026406 A G exonic EPHX1 NA nonsynonymous SNV EPHX1:NM_000120:exon4:c.A416G:p.H139R,EPHX1:NM_001136018:exon4:c.A416G:p.H139R exonic ENSG00000143819 NA nonsynonymous SNV ENSG00000143819:ENST00000272167:exon4:c.A416G:p.H139R,ENSG00000143819:ENST00000366837:exon4:c.A416G:p.H139R,ENSG00000143819:ENST00000445856:exon4:c.A416G:p.H139R NA NA 1q42.12 NA NA NA NA rs2234922 0.18 0.18 0.184 0.215455 0.164 0.1181 0.1427 0.3533 0.2342 0.17 0.11 0.14 0.34 0.1963 0.34 0.62 T 0.0 B 0.0 B 0.077 N 1.000 P -1.15 N 3.9 T -0.956 T 0.000 T 0.201 -1.919 0.008 2.55 0.379 0.819 7.654 -1.918526 NA 0.81 0.205 0.336813 NA 0.196 CLINSIG=non-pathogenic;CLNDBN=EPOXIDE_HYDROLASE_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000018079.1;CLNDSDB=.;CLNDSDBID=. 8.7680334 783 11 6913127 6913127 A G exonic OR2D2 NA nonsynonymous SNV OR2D2:NM_003700:exon1:c.T605C:p.M202T exonic ENSG00000166368 NA nonsynonymous SNV ENSG00000166368:ENST00000299459:exon1:c.T605C:p.M202T Score=278;Name=lod=18 NA 11p15.4 NA NA NA NA rs2741804 0.43 0.43 0.409 0.377796 0.502 0.4306 0.5706 0.1195 0.408 0.51 0.48 0.56 0.14 0.5046 0.56 0.3 T 0.002 B 0.009 B 0.006 N 0.904 P 0.55 N 8.78 T -1.097 T 0.000 T 0.085 -0.399 2.132 3.96 1.079 0.682 5.614 -0.398977 NA 0.07 0.559008 0.184916 NA 0.413 NA 8.7677254 783 17 42744238 42744238 A C exonic C17orf104 NA nonsynonymous SNV C17orf104:NM_001145080:exon5:c.A959C:p.N320T exonic ENSG00000180336 NA nonsynonymous SNV ENSG00000180336:ENST00000409464:exon2:c.A461C:p.N154T,ENSG00000180336:ENST00000432494:exon2:c.A461C:p.N154T,ENSG00000180336:ENST00000359945:exon5:c.A959C:p.N320T,ENSG00000180336:ENST00000409122:exon5:c.A959C:p.N320T Score=648;Name=lod=574 NA 17q21.31 Score=838;Name=V$OCT1_04 NA NA NA rs9907151 0.22 0.22 0.217 0.228435 0.1769 0.0863 0.183 0.4675 0.137 0.17 0.06 0.21 0.46 0.1966 0.46 0.15 T 0.161 B 0.116 B 0.016 N 0.472 P 1.04 L 1.45 T -0.903 T 0.000 T 0.156 0.679 7.634 1.02 -0.044 -0.304 11.427 0.679387 NA 0 0.192182 0.408988 NA 0.196 NA 8.7676514 783 9 140130606 140130606 A T exonic SLC34A3 NA nonsynonymous SNV SLC34A3:NM_001177316:exon13:c.A1538T:p.E513V,SLC34A3:NM_001177317:exon13:c.A1538T:p.E513V,SLC34A3:NM_080877:exon13:c.A1538T:p.E513V exonic ENSG00000198569 NA nonsynonymous SNV ENSG00000198569:ENST00000361134:exon13:c.A1538T:p.E513V,ENSG00000198569:ENST00000538474:exon13:c.A1538T:p.E513V Score=366;Name=lod=41 NA 9q34.3 NA NA Name=3 NA rs28542318 0.93 0.93 0.924 0.946086 0.838 1 0.9481 0.9887 0.9427 0.83 1 0.94 0.99 0.8831 1 1 T 0.0 B 0.0 B 0.000 N 0.999 P -2.61 N 1.78 T -0.979 T 0.000 T 0.248 -1.211 0.067 4.24 0.789 2.235 8.589 -1.21057 NA 1 0.845092 0.968941 ID=COSM455647;OCCURENCE=1(breast),1(large_intestine) 0.935 NA 8.7671414 783 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 783 1 3328358 3328358 T C exonic PRDM16 NA nonsynonymous SNV PRDM16:NM_022114:exon9:c.T1597C:p.S533P,PRDM16:NM_199454:exon9:c.T1597C:p.S533P exonic ENSG00000142611 NA nonsynonymous SNV ENSG00000142611:ENST00000509860:exon5:c.T1024C:p.S342P,ENSG00000142611:ENST00000270722:exon9:c.T1597C:p.S533P,ENSG00000142611:ENST00000378391:exon9:c.T1597C:p.S533P,ENSG00000142611:ENST00000441472:exon9:c.T1597C:p.S533P,ENSG00000142611:ENST00000442529:exon9:c.T1597C:p.S533P,ENSG00000142611:ENST00000511072:exon9:c.T1600C:p.S534P,ENSG00000142611:ENST00000514189:exon9:c.T1600C:p.S534P,ENSG00000142611:ENST00000378398:exon10:c.T1600C:p.S534P Score=574;Name=lod=286 NA 1p36.32 NA NA NA NA rs870124 0.93 0.93 0.923 0.945088 0.8419 0.998 0.9006 0.9924 0.9642 0.86 1 0.87 0.99 0.8897 1 0.53 T 0.0 B 0.0 B 0.005 N 0.821 P -0.55 N 3.42 T -0.955 T 0.000 T 0.028 -0.285 2.636 5.33 1.290 1.977 14.274 -0.285273 NA 0.51 0.835593 0.967319 NA 0.855 NA 8.7661404 783 2 17998095 17998095 C T exonic MSGN1 NA nonsynonymous SNV MSGN1:NM_001105569:exon1:c.C310T:p.H104Y exonic ENSG00000151379 NA nonsynonymous SNV ENSG00000151379:ENST00000281047:exon1:c.C310T:p.H104Y NA NA 2p24.2 NA NA NA NA rs35858730 0.3 0.3 0.304 0.295927 0.5398 0.0278 0.3429 0.1884 0.4335 0.54 0.03 0.4 0.2 0.4553 0.57 0.59 T 0.0 B 0.0 B 0.014 N 1.000 P -1.67 N 2.35 T -0.970 T 0.000 T 0.046 -2.614 0 5.77 1.020 1.350 8.870 -2.614259 NA 1 0.57276 0.248653 ID=COSM441917;OCCURENCE=1(breast) 0.442 NA 8.7654734 783 16 56545175 56545175 T C exonic BBS2 NA nonsynonymous SNV BBS2:NM_031885:exon3:c.A367G:p.I123V exonic ENSG00000125124 NA nonsynonymous SNV ENSG00000125124:ENST00000245157:exon3:c.A367G:p.I123V,ENSG00000125124:ENST00000568104:exon3:c.A367G:p.I123V Score=535;Name=lod=200 NA 16q12.2 NA NA NA NA rs11373 0.26 0.26 0.249 0.263578 0.1789 0.4127 0.2767 0.2458 0.2117 0.18 0.41 0.26 0.22 0.2092 0.41 0.56 T 0.0 B 0.003 B 0.007 N 0.726 P 0.4 N -1.58 D -1.014 T 0.000 T 0.05 0.277 5.499 0.542 -0.180 0.402 5.865 0.27702 NA 0.43 0.179767 0.226115 NA 0.188 NA 8.7654664 784 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 784 18 55021725 55021725 A C exonic ST8SIA3 NA nonsynonymous SNV ST8SIA3:NM_015879:exon2:c.A272C:p.K91T exonic ENSG00000177511 NA nonsynonymous SNV ENSG00000177511:ENST00000324000:exon2:c.A272C:p.K91T Score=641;Name=lod=536 NA 18q21.31 NA NA NA NA rs3745060 0.35 0.35 0.334 0.36861 0.159 0.495 0.3199 0.5204 0.2832 0.15 0.53 0.28 0.49 0.251 0.53 0.75 T 0.0 B 0.0 B 0.008 N 1.000 P 0.345 N 1.05 T -0.913 T 0.000 T 0.03 -0.242 2.834 2.02 -0.039 -0.004 2.535 -0.241904 NA 1 0.158721 0.4537 NA 0.319 NA 8.7646124 784 17 1657653 1657653 G A exonic SERPINF2 NA nonsynonymous SNV SERPINF2:NM_001165921:exon9:c.G1109A:p.R370K,SERPINF2:NM_000934:exon10:c.G1301A:p.R434K,SERPINF2:NM_001165920:exon10:c.G1301A:p.R434K exonic ENSG00000167711 NA nonsynonymous SNV ENSG00000167711:ENST00000450523:exon9:c.G1109A:p.R370K,ENSG00000167711:ENST00000324015:exon10:c.G1301A:p.R434K,ENSG00000167711:ENST00000382061:exon10:c.G1301A:p.R434K Score=448;Name=lod=88 NA 17p13.3 NA NA NA NA rs1057335 0.16 0.16 0.164 0.221645 0.173 0.1567 0.2003 0.2057 0.3753 0.17 0.14 0.19 0.16 0.2165 0.24 . . 0.001 B 0.002 B 0.049 N 0.980 P 0.76 N -1.83 D -1.106 T 0.000 T 0.035 0.716 7.81 0.742 0.281 -0.017 7.708 0.71557 NA 0.36 0.179884 0.21153 NA 0.174 NA 8.7639494 784 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 784 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 784 21 40823902 40823902 C G exonic SH3BGR NA nonsynonymous SNV SH3BGR:NM_007341:exon1:c.C69G:p.D23E exonic ENSG00000185437 NA nonsynonymous SNV ENSG00000185437:ENST00000333634:exon1:c.C69G:p.D23E NA NA 21q22.2 NA Name=CCNT2,Pol2(b),HEY1 Name=30 NA rs11575939 0.16 0.16 0.139 0.166334 0.2058 0.0268 0.1369 0.2519 0.1748 0.2 0.03 0.17 0.24 0.1733 0.24 1 T 0.0 B 0.0 B 0.321 N 1.000 P 0 N 1.63 T -1.037 T 0.000 T 0.007 -1.966 0.007 -0.25 -0.244 0.805 2.843 -1.965622 NA 1 0.193953 0.229233 NA 0.051 NA 8.7602804 784 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 784 8 145665407 145665407 C T exonic TONSL NA nonsynonymous SNV TONSL:NM_013432:exon11:c.G1477A:p.G493S exonic ENSG00000160949 NA nonsynonymous SNV ENSG00000160949:ENST00000409379:exon11:c.G1477A:p.G493S Score=366;Name=lod=41 NA 8q24.3 NA NA NA NA rs2229315 0.51 0.51 0.508 0.482827 0.5338 0.3849 0.4741 0.5938 0.3875 0.55 0.42 0.49 0.58 0.5058 0.58 1 T 0.0 B 0.0 B 0.002 N 1.000 P -0.55 N 1.21 T -0.934 T 0.000 T 0.065 -0.027 3.873 5.51 0.934 1.065 9.775 -0.027475 NA 1 0.534567 0.577763 NA 0.507 NA 8.7591664 784 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 784 6 31734345 31734345 G T exonic VWA7 NA synonymous SNV VWA7:NM_025258:exon14:c.C2079A:p.S693S exonic ENSG00000204396 NA nonsynonymous SNV ENSG00000204396:ENST00000447450:exon15:c.C2059A:p.H687N NA NA 6p21.33 NA Name=TAF1 Name=27 NA rs3115671 0.04 0.04 0.048 0.0339457 0.0746 NA 0.0274 0.0575 NA 0.08 NA 0.03 0.06 0.0648 0.1 0.75 T . . . . . . 1.000 N . . 1.52 T -0.933 T 0.009 T . 0.95 8.875 0.78 -0.150 0.056 3.73 0.950281 NA 0 0.102881 0.067263 NA 0.087 NA 8.757719 784 10 50950976 50950976 G A exonic OGDHL NA nonsynonymous SNV OGDHL:NM_001143997:exon13:c.C1283T:p.T428M,OGDHL:NM_001143996:exon14:c.C1739T:p.T580M,OGDHL:NM_018245:exon15:c.C1910T:p.T637M exonic ENSG00000197444 NA nonsynonymous SNV ENSG00000197444:ENST00000432695:exon13:c.C1283T:p.T428M,ENSG00000197444:ENST00000419399:exon14:c.C1739T:p.T580M,ENSG00000197444:ENST00000374103:exon15:c.C1910T:p.T637M NA NA 10q11.23 NA NA NA NA rs11101224 0.19 0.19 0.189 0.208666 0.1958 0.0407 0.2565 0.3048 0.2311 0.19 0.05 0.23 0.31 0.1983 0.31 0.05 D 0.028 B 0.028 B 0.498 N 1.000 P 1.185 L -2.87 D -1.089 T 0.000 T 0.102 0.39 6.119 0.022 0.028 -0.513 5.709 0.390152 NA 0.24 0.183837 0.272129 NA 0.21 NA 8.7553964 785 14 74523869 74523869 A G exonic CCDC176 NA nonsynonymous SNV CCDC176:NM_025057:exon11:c.A1486G:p.K496E exonic ENSG00000119636 NA nonsynonymous SNV ENSG00000119636:ENST00000492247:exon3:c.A118G:p.K40E,ENSG00000119636:ENST00000553773:exon9:c.A661G:p.K221E,ENSG00000119636:ENST00000394009:exon11:c.A1486G:p.K496E NA NA 14q24.3 NA NA NA NA rs3742809 0.19 0.19 0.182 0.241613 0.1849 0.2371 0.1671 0.1566 0.4724 0.18 0.24 0.18 0.14 0.212 0.24 0.4 T 0.0 B 0.001 B 0.422 N 0.143 P 0.69 N 2.29 T -1.021 T 0.000 T 0.125 1.211 9.915 2.71 0.640 0.991 8.909 1.210595 NA 0.26 0.182093 0.166364 NA 0.225 NA 8.7543404 785 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 785 14 73727509 73727509 T G exonic PAPLN NA nonsynonymous SNV PAPLN:NM_173462:exon16:c.T1997G:p.M666R exonic ENSG00000100767 NA nonsynonymous SNV ENSG00000100767:ENST00000340738:exon16:c.T1997G:p.M666R,ENSG00000100767:ENST00000554301:exon16:c.T2078G:p.M693R,ENSG00000100767:ENST00000555123:exon16:c.T1997G:p.M666R,ENSG00000100767:ENST00000555445:exon16:c.T2078G:p.M693R,ENSG00000100767:ENST00000216658:exon17:c.T2078G:p.M693R,ENSG00000100767:ENST00000381166:exon17:c.T2078G:p.M693R,ENSG00000100767:ENST00000427855:exon17:c.T2078G:p.M693R NA NA 14q24.2 NA Name=RXRA NA NA rs177389 0.67 0.67 0.645 0.65615 0.4841 0.7103 0.6801 0.7481 0.636 0.5 0.71 0.68 0.86 0.5768 0.86 0.59 T 0.0 B 0.0 B . . 1.000 P -1.995 N 0.36 T -0.975 T 0.000 T 0.255 -0.872 0.498 3.65 0.630 1.696 9.762 -0.872174 NA 0.5 0.519186 0.813663 NA 0.449 NA 8.7532474 785 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 785 4 186380243 186380243 A C exonic CCDC110 NA nonsynonymous SNV CCDC110:NM_001145411:exon5:c.T1387G:p.Y463D,CCDC110:NM_152775:exon6:c.T1498G:p.Y500D exonic ENSG00000168491 NA nonsynonymous SNV ENSG00000168491:ENST00000393540:exon5:c.T1387G:p.Y463D,ENSG00000168491:ENST00000307588:exon6:c.T1498G:p.Y500D,ENSG00000168491:ENST00000510617:exon6:c.T1498G:p.Y500D Score=371;Name=lod=43 NA 4q35.1 NA NA NA NA rs59319722 0.39 0.39 0.399 0.384784 0.5378 0.2857 0.3631 0.2784 0.4888 0.53 0.28 0.41 0.3 0.4806 0.56 1 T 0.0 B 0.0 B 0.066 N 1.000 P -1.59 N 3.65 T -0.963 T 0.000 T 0.043 -2.653 0 4.25 0.446 2.024 7.408 -2.653368 NA 0.85 0.562982 0.327413 NA 0.449 NA 8.7519514 785 10 124089036 124089036 G A exonic BTBD16 NA nonsynonymous SNV BTBD16:NM_144587:exon11:c.G953A:p.R318Q exonic ENSG00000138152 NA nonsynonymous SNV ENSG00000138152:ENST00000260723:exon11:c.G953A:p.R318Q,ENSG00000138152:ENST00000368994:exon11:c.G956A:p.R319Q Score=278;Name=lod=18 NA 10q26.13 NA NA NA NA rs2421013 0.63 0.63 0.641 0.616014 0.5099 0.8671 0.6037 0.5976 0.5 0.51 0.87 0.59 0.59 0.5608 0.87 1 T 0.0 B 0.0 B 0.181 N 1.000 P -2.015 N 2.35 T -0.990 T 0.000 T 0.013 -1.205 0.07 4.63 0.447 1.555 5.453 -1.205165 NA 1 0.51093 0.605311 NA 0.601 NA 8.7517034 785 1 150526044 150526044 G C exonic ADAMTSL4 NA nonsynonymous SNV ADAMTSL4:NM_019032:exon6:c.G577C:p.A193P,ADAMTSL4:NM_025008:exon6:c.G577C:p.A193P exonic ENSG00000143382 NA nonsynonymous SNV ENSG00000143382:ENST00000369038:exon4:c.G577C:p.A193P,ENSG00000143382:ENST00000369039:exon5:c.G577C:p.A193P,ENSG00000143382:ENST00000271643:exon6:c.G577C:p.A193P,ENSG00000143382:ENST00000369041:exon6:c.G577C:p.A193P NA NA 1q21.3 NA NA NA NA rs41317515 0.56 0.56 0.516 0.528355 0.5338 0.5675 0.4337 0.6074 0.4427 0.56 0.56 0.49 0.6 0.5231 0.6 0.3 T 0.0 B 0.0 B . . 1.000 P 0 N 0.23 T -1.058 T 0.031 T 0.016 -0.864 0.516 -4.57 -1.085 -1.494 3.170 -0.864147 NA 0 0.525 0.590104 NA 0.507 NA 8.7514334 785 16 57689385 57689385 C G exonic GPR56 NA nonsynonymous SNV GPR56:NM_001145773:exon6:c.C858G:p.S286R,GPR56:NM_201525:exon6:c.C843G:p.S281R,GPR56:NM_001145770:exon7:c.C843G:p.S281R,GPR56:NM_001145771:exon7:c.C843G:p.S281R,GPR56:NM_001145772:exon7:c.C843G:p.S281R,GPR56:NM_001145774:exon7:c.C843G:p.S281R,GPR56:NM_005682:exon7:c.C843G:p.S281R,GPR56:NM_201524:exon7:c.C843G:p.S281R exonic ENSG00000205336 NA nonsynonymous SNV ENSG00000205336:ENST00000379694:exon5:c.C333G:p.S111R,ENSG00000205336:ENST00000379696:exon6:c.C843G:p.S281R,ENSG00000205336:ENST00000388812:exon6:c.C843G:p.S281R,ENSG00000205336:ENST00000456916:exon6:c.C843G:p.S281R,ENSG00000205336:ENST00000544297:exon6:c.C318G:p.S106R,ENSG00000205336:ENST00000562631:exon6:c.C843G:p.S281R,ENSG00000205336:ENST00000568909:exon6:c.C843G:p.S281R,ENSG00000205336:ENST00000388813:exon7:c.C843G:p.S281R,ENSG00000205336:ENST00000538815:exon7:c.C843G:p.S281R,ENSG00000205336:ENST00000540164:exon7:c.C843G:p.S281R,ENSG00000205336:ENST00000562558:exon7:c.C843G:p.S281R,ENSG00000205336:ENST00000567835:exon7:c.C843G:p.S281R,ENSG00000205336:ENST00000568908:exon7:c.C843G:p.S281R NA NA 16q21 NA NA NA NA rs1801257 0.7 0.7 0.676 0.720847 0.497 0.8591 0.7075 0.8918 0.5869 0.48 0.85 0.66 0.88 0.5918 0.88 0.97 T 0.0 B 0.001 B 0.020 N 1.000 P -2.255 N 1.9 T -0.982 T 0.000 T 0.141 -3.941 0.001 -6.2 -1.221 -1.550 8.518 -3.941006 NA 0.61 0.49314 0.824386 ID=COSM435429;OCCURENCE=1(breast) 0.71 NA 8.7513934 785 9 116191244 116191244 G A splicing C9orf43 NM_152786:exon13:c.1171+1G>A NA NA splicing ENSG00000157653 ENST00000374165:exon13:c.1171+1G>A,ENST00000288462:exon13:c.1171+1G>A NA NA NA NA 9q32 NA NA NA NA rs78738447 0.05 0.05 0.032 0.0523163 0.0875 0.0625 0.0504 0.003 0.0736 0.09 0.05 0.06 0.0041 0.0741 0.09 . . . . . . . . 0.962 N . . . . . . . . . 1.046 9.273 3.17 1.236 1.656 6.706 1.046275 NA NA 0.087791 0.016114 NA 0.014 NA 8.750609 785 20 3285140 3285140 T C exonic C20orf194 NA nonsynonymous SNV C20orf194:NM_001009984:exon21:c.A1729G:p.R577G exonic ENSG00000088854 NA nonsynonymous SNV ENSG00000088854:ENST00000453730:exon12:c.A943G:p.R315G,ENSG00000088854:ENST00000252032:exon21:c.A1729G:p.R577G Score=512;Name=lod=160 NA 20p13 NA NA NA NA rs2422864 0.92 0.92 0.918 0.933706 0.8579 1 0.9294 0.9478 0.9274 0.85 1 0.92 0.94 0.8795 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.175 N 2.81 T -0.957 T 0.000 T 0.128 0.533 6.887 5.66 1.393 3.056 12.095 0.533036 NA 1 0.845483 0.949188 NA 0.92 NA 8.7504504 785 7 100731638 100731638 C T exonic TRIM56 NA nonsynonymous SNV TRIM56:NM_030961:exon3:c.C1045T:p.L349F exonic ENSG00000169871 NA nonsynonymous SNV ENSG00000169871:ENST00000306085:exon3:c.C1045T:p.L349F Score=399;Name=lod=56 NA 7q22.1 NA NA NA NA rs77167460 0.01 0.01 0.006 0.00838658 0.0249 NA 0.0173 0.0008 0.0041 0.02 NA 0.02 0.002 0.0275 0.031 0.58 T 0.917 P 0.367 B . . 0.993 N 0 N 0.91 T -1.097 T 0.017 T 0.083 0.883 8.583 1.67 0.440 0.018 6.169 0.88266 NA 0.19 0.031258 0.006521 ID=COSM1488073,COSM452051;OCCURENCE=1(breast) 0.007 NA 8.7496754 785 19 54784130 54784130 T C exonic LILRB2 NA nonsynonymous SNV LILRB2:NM_001080978:exon3:c.A59G:p.H20R,LILRB2:NM_005874:exon3:c.A59G:p.H20R exonic ENSG00000131042 NA nonsynonymous SNV ENSG00000131042:ENST00000391746:exon2:c.A59G:p.H20R,ENSG00000131042:ENST00000314446:exon3:c.A59G:p.H20R,ENSG00000131042:ENST00000391748:exon3:c.A59G:p.H20R,ENSG00000131042:ENST00000391749:exon3:c.A59G:p.H20R NA NA 19q13.42 NA NA NA NA rs383369 0.31 0.31 0.259 0.234026 0.172 0.6012 0.232 0.0643 0.1503 0.18 0.74 0.25 0.07 0.2311 0.74 0.72 T 0.001 B 0.008 B 0.002 N 1.000 P 0.745 N 7.26 T -1.088 T 0.000 T 0.038 -0.455 1.895 -2.9 -0.340 -5.356 3.644 -0.454535 NA 0.44 0.181163 0.088743 NA 0.21 NA 8.7490704 785 17 76970879 76970879 A G exonic LGALS3BP NA synonymous SNV LGALS3BP:NM_005567:exon4:c.T267C:p.D89D exonic ENSG00000108679 NA synonymous SNV ENSG00000108679:ENST00000589906:exon3:c.T75C:p.D25D,ENSG00000108679:ENST00000262776:exon4:c.T267C:p.D89D,ENSG00000108679:ENST00000585407:exon4:c.T267C:p.D89D,ENSG00000108679:ENST00000588198:exon4:c.T267C:p.D89D,ENSG00000108679:ENST00000589527:exon4:c.T267C:p.D89D,ENSG00000108679:ENST00000591778:exon4:c.T267C:p.D89D,ENSG00000108679:ENST00000589775:exon5:c.T267C:p.D89D NA NA 17q25.3 Score=852;Name=V$CREB_02 NA Name=140 NA rs3744166 0.87 0.87 0.95 0.920128 0.9821 0.8194 0.9395 0.9924 0.8487 0.92 0.78 0.91 0.89 0.9529 0.99 . . . . . . . . 0.000 P . . . . . . . . . -0.954 0.335 -4.99 -1.271 -2.753 11.026 -0.954014 NA NA 0.984651 0.993191 NA 0.957 NA 8.7470156 785 8 23049292 23049292 C T exonic TNFRSF10A NA nonsynonymous SNV TNFRSF10A:NM_003844:exon10:c.G1322A:p.R441K exonic ENSG00000104689 NA nonsynonymous SNV ENSG00000104689:ENST00000221132:exon10:c.G1322A:p.R441K NA NA 8p21.3 NA Name=GR NA NA rs2230229 0.9 0.9 0.905 0.91254 0.8628 0.9772 0.902 0.8759 0.954 0.86 0.98 0.89 0.89 0.8782 0.98 1 T 0.0 B 0.0 B 0.423 N 1.000 P -1.53 N -2.0 D -0.992 T 0.000 T 0.025 -0.852 0.546 -2.61 -0.983 -0.512 6.433 -0.851516 NA 1 0.845698 0.856332 NA 0.891 NA 8.7466354 786 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 786 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 786 6 46827073 46827073 A G exonic GPR116 NA nonsynonymous SNV GPR116:NM_001098518:exon17:c.T2567C:p.M856T,GPR116:NM_015234:exon17:c.T2567C:p.M856T exonic ENSG00000069122 NA nonsynonymous SNV ENSG00000069122:ENST00000545669:exon7:c.T854C:p.M285T,ENSG00000069122:ENST00000456426:exon15:c.T2141C:p.M714T,ENSG00000069122:ENST00000265417:exon17:c.T2567C:p.M856T,ENSG00000069122:ENST00000283296:exon17:c.T2567C:p.M856T,ENSG00000069122:ENST00000362015:exon17:c.T2567C:p.M856T NA NA 6p12.3 NA NA NA NA rs547499 0.55 0.55 0.46 0.510383 0.7227 0.63 0.6225 0.149 0.5777 0.71 0.6 0.62 0.17 0.6431 0.72 0.31 T 0.514 P 0.165 B 0.013 N 1.000 P 1.87 L 0.84 T -1.025 T 0.055 T 0.248 -0.419 2.044 5.58 2.126 1.833 6.213 -0.419264 NA 0.04 0.724186 0.232637 ID=COSM1444917;OCCURENCE=1(large_intestine) 0.478 NA 8.7433474 786 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 786 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 786 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 786 7 20691047 20691047 T C exonic ABCB5 NA nonsynonymous SNV ABCB5:NM_001163942:exon4:c.T2C:p.M1T,ABCB5:NM_001163993:exon4:c.T2C:p.M1T,ABCB5:NM_178559:exon4:c.T2C:p.M1T,ABCB5:NM_001163941:exon13:c.T1337C:p.M446T exonic ENSG00000004846 NA nonsynonymous SNV ENSG00000004846:ENST00000258738:exon4:c.T2C:p.M1T,ENSG00000004846:ENST00000406935:exon4:c.T2C:p.M1T,ENSG00000004846:ENST00000443026:exon4:c.T2C:p.M1T,ENSG00000004846:ENST00000404938:exon13:c.T1337C:p.M446T NA NA 7p21.1 NA NA NA NA rs34603556 0.1 0.1 0.092 0.101637 0.2068 0.0397 0.0937 0.0287 0.1616 0.21 0.04 0.09 0.03 0.1809 0.21 0 D 0.191 B 0.125 B 0.229 U 0.000 P . . -2.09 D -0.977 T 0.001 T 0.075 -0.053 3.745 0.375 -0.134 0.188 9.288 -0.052773 NA 0 0.203372 0.060145 NA 0.043 NA 8.7422614 786 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 786 22 18300879 18300879 G A exonic MICAL3 NA synonymous SNV MICAL3:NM_015241:exon26:c.C4548T:p.S1516S exonic ENSG00000243156 NA synonymous SNV ENSG00000243156:ENST00000441493:exon26:c.C4548T:p.S1516S Score=491;Name=lod=132 NA 22q11.21 NA NA NA NA rs11704809 0.17 0.17 0.17 0.151957 0.3161 0.0843 0.1844 0.034 0.1892 0.3 0.09 0.21 0.04 0.2811 0.33 . . . . . . . . 0.000 P . . . . -1.089 T 0.000 T . -0.221 2.932 -8.09 -1.838 -0.400 15.736 -0.220901 NA NA 0.328646 0.069458 NA 0.138 NA 8.7408206 786 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 786 5 140203432 140203432 C T exonic PCDHA5 NA nonsynonymous SNV PCDHA5:NM_018908:exon1:c.C2072T:p.A691V,PCDHA5:NM_031501:exon1:c.C2072T:p.A691V exonic ENSG00000204965 NA nonsynonymous SNV ENSG00000204965:ENST00000378126:exon1:c.C2072T:p.A691V,ENSG00000204965:ENST00000529619:exon1:c.C2072T:p.A691V,ENSG00000204965:ENST00000529859:exon1:c.C2072T:p.A691V NA NA 5q31.3 NA Name=PU.1,Pbx3 NA NA rs4141841 0.54 0.54 0.527 0.534145 0.5378 0.5317 0.5922 0.5106 0.5235 0.53 0.54 0.54 0.53 0.5283 0.54 0.12 T 0.007 B 0.008 B . . 0.000 P 1.81 L 0.75 T -0.929 T 0.000 T 0.131 2.169 13.21 3.9 1.899 -0.140 14.426 2.168726 2.168726 0.08 0.52803 0.523377 NA 0.507 NA 8.7392034 786 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 786 22 19808769 19808769 C T exonic GNB1L NA nonsynonymous SNV GNB1L:NM_053004:exon3:c.G110A:p.R37H exonic ENSG00000185838 NA nonsynonymous SNV ENSG00000185838:ENST00000403325:exon2:c.G110A:p.R37H,ENSG00000185838:ENST00000453108:exon2:c.G110A:p.R37H,ENSG00000185838:ENST00000329517:exon3:c.G110A:p.R37H,ENSG00000185838:ENST00000405009:exon3:c.G110A:p.R37H NA NA 22q11.21 NA NA NA NA rs5748449 0.13 0.13 0.128 0.14397 0.1968 0.0913 0.1758 0.0197 0.2894 0.19 0.09 0.19 0.03 0.1971 0.2 0.52 T 0.0 B 0.0 B 0.528 N 1.000 P -0.895 N 5.02 T -1.020 T 0.000 T 0.194 -0.167 3.185 -4.57 -0.600 -2.766 4.561 -0.167019 NA 0.27 0.201512 0.054017 NA 0.196 NA 8.7379214 786 5 138857919 138857919 T C exonic TMEM173 NA nonsynonymous SNV TMEM173:NM_198282:exon6:c.A695G:p.H232R exonic ENSG00000184584 NA nonsynonymous SNV ENSG00000184584:ENST00000510817:exon5:c.A695G:p.H232R,ENSG00000184584:ENST00000330794:exon6:c.A695G:p.H232R Score=381;Name=lod=47 NA 5q31.2 NA Name=ZBTB7A_(SC-34508) NA NA rs1131769 0.86 0.86 0.86 0.872804 0.8519 0.8581 0.8501 0.8888 0.9039 0.85 0.87 0.82 0.89 0.876 0.89 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.36 N 2.72 T -0.987 T 0.000 T 0.111 -1.187 0.079 4.92 0.814 2.119 10.127 -1.187358 NA 1 0.869186 0.871766 NA 0.899 NA 8.7362474 786 5 38486065 38486065 C T exonic LIFR NA nonsynonymous SNV LIFR:NM_001127671:exon17:c.G2353A:p.V785I,LIFR:NM_002310:exon17:c.G2353A:p.V785I exonic ENSG00000113594 NA nonsynonymous SNV ENSG00000113594:ENST00000263409:exon17:c.G2353A:p.V785I,ENSG00000113594:ENST00000453190:exon17:c.G2353A:p.V785I Score=517;Name=lod=168 NA 5p13.1 NA NA NA NA rs3110234 0.14 0.14 0.127 0.138379 0.1869 0.0218 0.2666 0.115 0.1493 0.2 0.02 0.26 0.11 0.1909 0.26 0.37 T 0.451 B 0.097 B 0.024 N 0.961 P 1.04 L 0.45 T -1.018 T 0.000 T 0.049 1.633 11.42 3.61 0.622 0.357 8.535 1.632615 1.632615 0.68 0.219535 0.123241 NA 0.08 NA 8.7359984 787 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 787 8 110455321 110455321 C A exonic PKHD1L1 NA nonsynonymous SNV PKHD1L1:NM_177531:exon36:c.C4540A:p.R1514S exonic ENSG00000205038 NA nonsynonymous SNV ENSG00000205038:ENST00000378402:exon36:c.C4540A:p.R1514S NA NA 8q23.1 NA NA NA NA rs1673408 0.52 0.52 0.506 0.560903 0.5119 0.4048 0.6556 0.5499 0.7198 0.51 0.43 0.64 0.54 0.5511 0.69 0.43 T 0.0 B 0.0 B 0.004 N 1.000 P -0.69 N -1.91 D -0.943 T 0.000 T 0.041 1.03 9.207 -5.52 -1.364 0.031 10.839 1.030005 NA 0.29 0.536251 0.566332 NA 0.594 NA 8.7340824 787 7 92028039 92028039 C A exonic ANKIB1 NA nonsynonymous SNV ANKIB1:NM_019004:exon20:c.C3046A:p.L1016M exonic ENSG00000001629 NA nonsynonymous SNV ENSG00000001629:ENST00000265742:exon20:c.C3046A:p.L1016M NA NA 7q21.2 NA NA NA NA rs38794 0.44 0.44 0.424 0.439097 0.5586 0.4712 0.5216 0.2413 0.4918 0.57 0.43 0.49 0.22 0.5147 0.57 0 D 0.005 B 0.013 B 0.852 N 1.000 P 0.55 N 2.91 T -0.927 T 0.000 T 0.046 0.922 8.755 3.36 0.836 1.958 7.778 0.92212 NA 0 0.526246 0.276704 NA 0.449 NA 8.7337874 787 15 45361180 45361180 A T exonic SORD NA nonsynonymous SNV SORD:NM_003104:exon7:c.A716T:p.Q239L exonic ENSG00000140263 NA nonsynonymous SNV ENSG00000140263:ENST00000267814:exon7:c.A716T:p.Q239L,ENSG00000140263:ENST00000558580:exon7:c.A653T:p.Q218L NA NA 15q21.1 NA NA NA NA rs1042079 0.23 0.23 0.196 0.335064 0.1799 0.2202 0.2867 0.6664 0.1994 0.11 0.11 0.19 0.58 0.264 0.58 0.42 T 0.0 B 0.0 B 0.015 N 1.000 P -1.27 N 3.67 T -1.044 T 0.000 T 0.037 0.667 7.574 4.74 0.669 2.525 10.116 0.667425 NA 0.85 0.155654 0.559372 NA 0.268 NA 8.7337794 787 2 152531077 152531077 A G exonic NEB NA nonsynonymous SNV NEB:NM_001164507:exon36:c.T3901C:p.Y1301H,NEB:NM_001164508:exon36:c.T3901C:p.Y1301H,NEB:NM_001271208:exon36:c.T3901C:p.Y1301H,NEB:NM_004543:exon36:c.T3901C:p.Y1301H exonic ENSG00000183091 NA nonsynonymous SNV ENSG00000183091:ENST00000603639:exon34:c.T3901C:p.Y1301H,ENSG00000183091:ENST00000604864:exon34:c.T3901C:p.Y1301H,ENSG00000183091:ENST00000172853:exon36:c.T3901C:p.Y1301H,ENSG00000183091:ENST00000397345:exon36:c.T3901C:p.Y1301H,ENSG00000183091:ENST00000409198:exon36:c.T3901C:p.Y1301H,ENSG00000183091:ENST00000427231:exon36:c.T3901C:p.Y1301H Score=541;Name=lod=210 NA 2q23.3 NA NA NA NA rs6711382 0.74 0.74 0.712 0.716054 0.8817 0.5833 0.9236 0.5938 0.7004 0.89 0.58 0.9 0.59 0.8265 0.9 0.49 T 0.0 B 0.002 B 0.002 N 0.000 P -0.895 N 0.91 T -0.984 T 0.000 T 0.161 0.849 8.434 5.52 1.351 1.340 7.258 0.849301 NA 0.18 0.892367 0.660224 NA 0.804 NA 8.7327664 787 3 124802888 124802888 C T exonic SLC12A8 NA nonsynonymous SNV SLC12A8:NM_001195483:exon13:c.G1991A:p.R664Q,SLC12A8:NM_024628:exon14:c.G1991A:p.R664Q exonic ENSG00000221955 NA nonsynonymous SNV ENSG00000221955:ENST00000430155:exon8:c.G1394A:p.R465Q,ENSG00000221955:ENST00000314584:exon10:c.G974A:p.R325Q,ENSG00000221955:ENST00000393469:exon13:c.G1991A:p.R664Q,ENSG00000221955:ENST00000423114:exon14:c.G2078A:p.R693Q,ENSG00000221955:ENST00000469902:exon14:c.G1991A:p.R664Q NA NA 3q21.2 NA Name=NRSF Name=52 NA rs2981482 0.61 0.61 0.613 0.620008 0.5388 0.5813 0.5994 0.7995 0.5153 0.55 0.56 0.56 0.79 0.5412 0.79 0.12 T 0.112 B 0.01 B . . 1.000 P 0.92 L -1.46 T -0.952 T 0.000 T 0.066 0.723 7.846 1.63 0.669 -0.951 5.940 0.722884 NA 0.48 0.520695 0.776611 NA 0.58 NA 8.7326384 787 4 47667064 47667064 T C exonic CORIN NA nonsynonymous SNV CORIN:NM_006587:exon11:c.A1574G:p.H525R exonic ENSG00000145244 NA nonsynonymous SNV ENSG00000145244:ENST00000502252:exon10:c.A1373G:p.H458R,ENSG00000145244:ENST00000504584:exon10:c.A1463G:p.H488R,ENSG00000145244:ENST00000505909:exon10:c.A1463G:p.H488R,ENSG00000145244:ENST00000508498:exon10:c.A1157G:p.H386R,ENSG00000145244:ENST00000273857:exon11:c.A1574G:p.H525R Score=349;Name=lod=35 NA 4p12 NA NA NA NA rs11934749 0.93 0.93 0.934 0.910942 0.8757 0.9722 0.879 0.9932 0.7955 0.89 0.97 0.87 0.99 0.8763 0.99 0.89 T 0.0 B 0.0 B 0.000 N 1.000 P -1.7 N -0.89 T -0.955 T 0.000 T 0.153 -1.731 0.011 4.33 1.461 1.501 12.610 -1.731133 NA 1 0.84907 0.97163 NA 0.935 NA 8.7322634 787 8 124206324 124206324 G A exonic FAM83A NA nonsynonymous SNV FAM83A:NM_032899:exon3:c.G709A:p.A237T,FAM83A:NM_207006:exon3:c.G709A:p.A237T exonic ENSG00000147689 NA nonsynonymous SNV ENSG00000147689:ENST00000522648:exon2:c.G541A:p.A181T,ENSG00000147689:ENST00000276699:exon3:c.G709A:p.A237T,ENSG00000147689:ENST00000318462:exon3:c.G709A:p.A237T,ENSG00000147689:ENST00000546351:exon3:c.G541A:p.A181T,ENSG00000147689:ENST00000518448:exon4:c.G709A:p.A237T,ENSG00000147689:ENST00000536633:exon4:c.G709A:p.A237T NA NA 8q24.13 NA Name=ZNF263 NA NA rs7813708 0.18 0.18 0.167 0.15655 0.2008 0.2133 0.1988 0.0219 0.2045 0.2 0.26 0.19 0.03 0.1935 0.26 1 T 0.313 B 0.04 B 0.010 N 1.000 P 0.46 N 2.83 T -0.952 T 0.000 T 0.049 0.623 7.351 1.17 0.273 1.323 14.856 0.622953 NA 0.76 0.208256 0.057649 NA 0.188 NA 8.7307774 787 19 45448036 45448036 T C exonic APOC4 NA nonsynonymous SNV APOC4:NM_001646:exon2:c.T107C:p.L36P exonic ENSG00000224916,ENSG00000267467 NA nonsynonymous SNV ENSG00000224916:ENST00000419266:exon2:c.T107C:p.L36P,ENSG00000224916:ENST00000436871:exon2:c.T107C:p.L36P,ENSG00000224916:ENST00000585685:exon2:c.T107C:p.L36P,ENSG00000224916:ENST00000589057:exon2:c.T107C:p.L36P,ENSG00000267467:ENST00000591600:exon2:c.T107C:p.L36P,ENSG00000267467:ENST00000592954:exon2:c.T107C:p.L36P NA NA 19q13.32 NA NA NA NA rs1132899 0.66 0.66 0.608 0.664337 0.498 0.7262 0.7248 0.7307 0.6391 0.51 0.73 0.69 0.77 0.5921 0.77 0.2 T 0.0 B 0.0 B 0.624 N 1.000 P -0.11 N 1.87 T -1.000 T 0.000 T 0.013 -0.367 2.272 -4.88 -1.844 -1.990 6.313 -0.366865 NA 0.11 0.513023 0.715713 NA 0.638 NA 8.7302104 787 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 787 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 787 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 787 21 47777063 47777063 G A exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon13:c.G2111A:p.G704E exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon13:c.G2111A:p.G704E Score=313;Name=lod=25 NA 21q22.3 NA NA Name=3 NA rs2839223 0.86 0.86 0.855 0.848642 0.8728 0.8056 0.8199 0.9228 0.7883 0.87 0.8 0.86 0.92 0.8559 0.93 1 T 0.0 B 0.0 B . . 1.000 P -0.895 N 5.12 T -1.024 T 0.000 T 0.03 -1.413 0.022 5.03 0.772 3.837 8.53 -1.413341 NA 1 0.875698 0.929187 NA 0.848 NA 8.7289354 787 19 44932521 44932521 C T exonic ZNF229 NA nonsynonymous SNV ZNF229:NM_014518:exon6:c.G2435A:p.R812Q exonic ENSG00000167383 NA nonsynonymous SNV ENSG00000167383:ENST00000291187:exon6:c.G2417A:p.R806Q,ENSG00000167383:ENST00000588931:exon6:c.G2435A:p.R812Q NA NA 19q13.31 NA NA NA NA rs55700709 0.02 0.02 0.018 0.0161741 0.0437 NA 0.0231 0.0098 0.0082 0.04 NA 0.03 0.002 0.0242 0.04 0.21 T 0.809 P 0.031 B . . 1.000 N 0.32 N . . -1.021 T 0.005 T 0.122 0.216 5.163 -0.27 0.604 -1.305 1.917 0.215587 NA 0.62 0.036873 0.017808 NA 0.022 NA 8.7285604 787 11 107299631 107299631 G A exonic CWF19L2 NA nonsynonymous SNV CWF19L2:NM_152434:exon8:c.C1327T:p.H443Y exonic ENSG00000152404 NA nonsynonymous SNV ENSG00000152404:ENST00000431778:exon5:c.C970T:p.H324Y,ENSG00000152404:ENST00000532251:exon5:c.C970T:p.H324Y,ENSG00000152404:ENST00000282251:exon8:c.C1327T:p.H443Y,ENSG00000152404:ENST00000433523:exon8:c.C1327T:p.H443Y NA NA 11q22.3 NA NA NA NA rs659040 0.13 0.13 0.136 0.114617 0.2227 0.002 0.1369 0.1604 0.0419 0.22 0.0017 0.14 0.15 0.1643 0.22 0.08 T 0.0 B 0.0 B 0.001 N 1.000 P 0.41 N 2.01 T -0.986 T 0.000 T 0.067 -1.249 0.052 -3.67 -0.716 -1.808 2.301 -1.248631 NA 0.23 0.218706 0.175148 NA 0.138 NA 8.7276274 787 21 40800371 40800371 C T exonic LCA5L NA nonsynonymous SNV LCA5L:NM_152505:exon4:c.G49A:p.G17S exonic ENSG00000157578 NA nonsynonymous SNV ENSG00000157578:ENST00000358268:exon4:c.G49A:p.G17S,ENSG00000157578:ENST00000380671:exon4:c.G49A:p.G17S,ENSG00000157578:ENST00000411566:exon4:c.G49A:p.G17S,ENSG00000157578:ENST00000434281:exon4:c.G49A:p.G17S,ENSG00000157578:ENST00000448288:exon4:c.G49A:p.G17S,ENSG00000157578:ENST00000485895:exon4:c.G49A:p.G17S,ENSG00000157578:ENST00000288350:exon5:c.G49A:p.G17S,ENSG00000157578:ENST00000418018:exon5:c.G49A:p.G17S,ENSG00000157578:ENST00000456017:exon5:c.G49A:p.G17S,ENSG00000157578:ENST00000415863:exon6:c.G49A:p.G17S,ENSG00000157578:ENST00000426783:exon6:c.G49A:p.G17S,ENSG00000157578:ENST00000438404:exon6:c.G49A:p.G17S NA NA 21q22.2 NA NA NA NA rs2837029 0.21 0.21 0.197 0.21885 0.2157 0.0268 0.1628 0.4259 0.18 0.22 0.03 0.2 0.42 0.1939 0.42 1 T 0.001 B 0.001 B 0.651 N 1.000 P -0.255 N 1.15 T -1.074 T 0.000 T 0.298 0.669 7.581 -3.13 -0.792 -1.232 3.421 0.668727 NA 1 0.198023 0.395143 NA 0.123 NA 8.7257104 788 13 96638636 96638636 A C exonic UGGT2 NA nonsynonymous SNV UGGT2:NM_020121:exon9:c.T982G:p.S328A exonic ENSG00000102595 NA nonsynonymous SNV ENSG00000102595:ENST00000376747:exon9:c.T982G:p.S328A,ENSG00000102595:ENST00000397618:exon9:c.T982G:p.S328A Score=623;Name=lod=455 NA 13q32.1 NA NA NA NA rs816142 0.86 0.86 0.867 0.841653 0.8728 0.9276 0.7781 0.7814 0.8476 0.87 0.92 0.83 0.78 0.8599 0.92 1 T 0.001 B 0.002 B 0.000 N 0.000 P -1.805 N 2.7 T -0.966 T 0.000 T 0.04 0.262 5.414 5.54 1.329 1.920 14.873 0.261525 NA 1 0.875757 0.8064 NA 0.884 NA 8.7248764 788 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 788 5 79855372 79855372 A G exonic ANKRD34B NA nonsynonymous SNV ANKRD34B:NM_001004441:exon5:c.T467C:p.L156S exonic ENSG00000189127 NA nonsynonymous SNV ENSG00000189127:ENST00000338682:exon5:c.T467C:p.L156S Score=329;Name=lod=29 NA 5q14.1 NA NA NA NA rs32857 0.94 0.94 0.93 0.942492 0.8718 0.998 0.9207 0.9932 0.9049 0.87 1 0.91 1 0.8916 1 1 T 0.0 B 0.0 B 0.065 N 1.000 P -1.565 N 2.28 T -0.947 T 0.000 T 0.087 -1.347 0.029 5.82 1.476 2.696 13.929 -1.346949 NA 1 0.847093 0.969587 NA 0.906 NA 8.7228404 788 5 140187322 140187322 C T exonic PCDHA4 NA nonsynonymous SNV PCDHA4:NM_018907:exon1:c.C550T:p.P184S,PCDHA4:NM_031500:exon1:c.C550T:p.P184S exonic ENSG00000204967 NA nonsynonymous SNV ENSG00000204967:ENST00000356878:exon1:c.C550T:p.P184S,ENSG00000204967:ENST00000512229:exon1:c.C550T:p.P184S,ENSG00000204967:ENST00000530339:exon1:c.C550T:p.P184S NA NA 5q31.3 NA Name=TAF1,CTCF_(SC-5916),CTCF,Rad21 Name=25 NA rs3822346 0.58 0.58 0.586 0.591254 0.5388 0.5317 0.6052 0.7194 0.5235 0.54 0.54 0.56 0.7 0.545 0.7 0.73 T 0.002 B 0.002 B 0.220 N 1.000 P -1.715 N 0.76 T -0.981 T 0.000 T 0.008 -1.64 0.013 -0.010 -0.113 -3.104 5.077 -1.639781 NA 0.54 0.527558 0.703359 NA 0.594 NA 8.7219754 788 18 44561100 44561100 C G exonic TCEB3B NA nonsynonymous SNV TCEB3B:NM_016427:exon1:c.G536C:p.R179P exonic ENSG00000206181 NA nonsynonymous SNV ENSG00000206181:ENST00000332567:exon1:c.G536C:p.R179P NA NA 18q21.1 NA NA NA NA rs2571028 0.55 0.55 0.537 0.564097 0.5268 0.6518 0.6643 0.4554 0.5879 0.52 0.64 0.62 0.45 0.5614 0.64 0.62 T 0.0 B 0.0 B 0.004 N 1.000 P -1.04 N 3.24 T -0.965 T 0.000 T 0.007 -0.343 2.378 -5.18 -3.593 -2.327 2.630 -0.34272 NA 0.27 0.524015 0.482688 NA 0.529 NA 8.7211184 788 2 191224981 191224981 G T exonic INPP1 NA synonymous SNV INPP1:NM_002194:exon2:c.G153T:p.T51T,INPP1:NM_001128928:exon3:c.G153T:p.T51T exonic ENSG00000151689 NA synonymous SNV ENSG00000151689:ENST00000322522:exon2:c.G153T:p.T51T,ENSG00000151689:ENST00000409027:exon2:c.G153T:p.T51T,ENSG00000151689:ENST00000423767:exon2:c.G153T:p.T51T,ENSG00000151689:ENST00000444194:exon2:c.G153T:p.T51T,ENSG00000151689:ENST00000458193:exon2:c.G153T:p.T51T,ENSG00000151689:ENST00000458647:exon2:c.G153T:p.T51T,ENSG00000151689:ENST00000392329:exon3:c.G153T:p.T51T,ENSG00000151689:ENST00000431594:exon3:c.G153T:p.T51T,ENSG00000151689:ENST00000413239:exon4:c.G153T:p.T51T,ENSG00000151689:ENST00000541441:exon4:c.G153T:p.T51T Score=478;Name=lod=117 NA 2q32.2 Score=722;Name=V$NRSF_01 Name=Pol2 Name=5 NA rs4656 0.45 0.45 0.482 0.449681 0.3012 0.4901 0.3329 0.7194 0.2791 0.31 0.52 0.33 0.66 0.343 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 1.046054 NA NA 0.302326 0.657286 NA 0.42 NA 8.7201406 788 11 280464 280464 C G exonic NLRP6 NA nonsynonymous SNV NLRP6:NM_001276700:exon4:c.C730G:p.P244A,NLRP6:NM_138329:exon4:c.C730G:p.P244A exonic ENSG00000174885 NA nonsynonymous SNV ENSG00000174885:ENST00000312165:exon4:c.C730G:p.P244A,ENSG00000174885:ENST00000534750:exon4:c.C730G:p.P244A NA NA 11p15.5 NA NA Name=54 NA rs77447196 0.12 0.12 0.086 0.103435 0.2167 0.003 0.2205 0.028 0.1094 0.23 0.0017 0.23 0.02 0.1974 0.23 0.75 T 0.245 B 0.197 B 0.614 N 1.000 P 1.355 L -1.09 T -1.089 T 0.000 T 0.11 -0.459 1.878 -0.036 0.202 -1.183 2.855 -0.458588 NA 0.55 0.199744 0.063182 ID=COSM304003;OCCURENCE=2(central_nervous_system) 0.022 NA 8.7194894 788 6 33036853 33036853 A C exonic HLA-DPA1 NA nonsynonymous SNV HLA-DPA1:NM_033554:exon3:c.T571G:p.F191V,HLA-DPA1:NM_001242524:exon4:c.T571G:p.F191V,HLA-DPA1:NM_001242525:exon4:c.T571G:p.F191V exonic ENSG00000231389 NA nonsynonymous SNV ENSG00000231389:ENST00000428995:exon3:c.T571G:p.F191V,ENSG00000231389:ENST00000419277:exon4:c.T571G:p.F191V,ENSG00000231389:ENST00000453337:exon4:c.T571G:p.F191V Score=352;Name=lod=36 NA 6p21.32 NA NA NA NA rs1042308 0.4 0.4 0.384 0.438099 0.1889 0.6786 0.2839 0.5802 0.364 0.17 0.65 0.25 0.56 0.2481 0.65 1 T 0.0 B 0.001 B 0.176 N 1.000 P -1.235 N 4.24 T -0.939 T 0.007 T 0.382 -2.492 0.003 -3.7 -0.501 -0.160 8.001 -2.491932 NA 0.98 0.177187 0.472517 NA 0.348 NA 8.7191464 788 5 13701536 13701536 T C exonic DNAH5 NA nonsynonymous SNV DNAH5:NM_001369:exon77:c.A13348G:p.I4450V exonic ENSG00000039139 NA nonsynonymous SNV ENSG00000039139:ENST00000265104:exon77:c.A13348G:p.I4450V Score=441;Name=lod=83 NA 5p15.2 NA NA NA NA rs3734110 0.51 0.51 0.53 0.503594 0.5457 0.4474 0.5187 0.5295 0.4724 0.55 0.41 0.54 0.54 0.519 0.55 0.3 T 0.0 B 0.001 B 0.019 N 1.000 P 0 N 3.11 T -0.982 T 0.000 T 0.02 1.178 9.791 4.91 0.804 1.084 7.674 1.178017 NA 0.46 0.549535 0.504539 NA 0.543 NA 8.7190984 788 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$SEF1_C NA NA NA rs220130 0.2 0.2 0.192 0.196685 0.2187 0.1994 0.232 0.177 0.1728 0.2 0.21 0.21 0.17 0.1993 0.21 0.07 T 0.001 B 0.003 B 0.462 N 1.000 P 0.805 L 0.41 T -1.031 T 0.000 T 0.053 0.994 9.058 -7.2 -0.817 -0.755 11.169 0.993873 NA 0.04 0.196861 0.170455 NA 0.167 NA 8.7184724 788 19 39322087 39322087 T G exonic ECH1 NA nonsynonymous SNV ECH1:NM_001398:exon2:c.A122C:p.E41A exonic ENSG00000104823,ENSG00000268083 NA nonsynonymous SNV ENSG00000104823:ENST00000221418:exon2:c.A122C:p.E41A,ENSG00000104823:ENST00000595470:exon2:c.A122C:p.E41A NA NA 19q13.2 NA Name=GATA3_(SC-268),ZNF263,TBP,p300,FOXA1_(C-20),Pol2,ELF1_(SC-631),Pbx3,GABP Name=137 NA rs9419 0.4 0.4 0.372 0.365016 0.5915 0.244 0.4207 0.2035 0.4356 0.6 0.3 0.43 0.19 0.4727 0.6 0.67 T 0.029 B 0.008 B 0.848 U 1.000 P 0.55 N -0.03 T -0.928 T 0.000 T 0.098 1.675 11.56 2.94 0.799 0.652 5.329 1.675316 1.675316 0.36 0.551744 0.254199 NA 0.435 NA 8.7173894 788 6 33283766 33283766 T C exonic ZBTB22 NA nonsynonymous SNV ZBTB22:NM_001145338:exon2:c.A928G:p.T310A,ZBTB22:NM_005453:exon2:c.A928G:p.T310A exonic ENSG00000236104 NA nonsynonymous SNV ENSG00000236104:ENST00000418724:exon2:c.A928G:p.T310A,ENSG00000236104:ENST00000431845:exon2:c.A928G:p.T310A Score=532;Name=lod=193 NA 6p21.32 NA NA NA NA rs3130100 0.52 0.52 0.505 0.534345 0.5288 0.3899 0.549 0.5734 0.6258 0.52 0.39 0.6 0.62 0.5465 0.62 0.96 T 0.0 B 0.0 B . . 1.000 P -0.69 N 3.67 T -0.926 T 0.001 T 0.017 -2.636 0 3.0 0.327 1.935 5.355 -2.636134 NA 1 0.54093 0.558103 NA 0.536 NA 8.7171034 788 10 126172863 126172863 A G exonic LHPP NA nonsynonymous SNV LHPP:NM_001167880:exon2:c.A281G:p.Q94R,LHPP:NM_022126:exon2:c.A281G:p.Q94R exonic ENSG00000107902 NA nonsynonymous SNV ENSG00000107902:ENST00000368839:exon2:c.A281G:p.Q94R,ENSG00000107902:ENST00000368842:exon2:c.A281G:p.Q94R,ENSG00000107902:ENST00000392757:exon2:c.A281G:p.Q94R Score=507;Name=lod=154 NA 10q26.13 Score=708;Name=V$LUN1_01 NA NA NA rs6597801 0.91 0.91 0.931 0.897963 0.8479 0.9385 0.8674 0.9917 0.8027 0.85 0.94 0.89 0.99 0.8828 0.99 1 T 0.0 B 0.001 B 0.000 N 0.998 P -1.325 N 1.95 T -0.971 T 0.000 T 0.047 -0.179 3.129 3.56 0.652 5.159 8.441 -0.178805 NA 1 0.885814 0.975034 NA 0.884 NA 8.7168194 788 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 789 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 789 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 789 3 112546306 112546306 C A exonic CD200R1L NA nonsynonymous SNV CD200R1L:NM_001008784:exon3:c.G338T:p.R113L,CD200R1L:NM_001199215:exon4:c.G275T:p.R92L exonic ENSG00000206531 NA nonsynonymous SNV ENSG00000206531:ENST00000398214:exon3:c.G338T:p.R113L,ENSG00000206531:ENST00000448932:exon4:c.G275T:p.R92L,ENSG00000206531:ENST00000488794:exon5:c.G275T:p.R92L NA NA 3q13.2 NA NA NA NA rs4682119 0.23 0.23 0.232 0.288339 0.1769 0.0962 0.2867 0.5257 0.2812 0.17 0.08 0.27 0.5 0.2365 0.5 0.29 T 0.319 B 0.03 B 0.079 N 1.000 P 0.69 N 3.02 T -0.933 T 0.000 T 0.05 0.714 7.8 -3.53 -0.778 -1.343 5.233 0.713512 NA 0.05 0.205349 0.460281 NA 0.275 NA 8.7145844 789 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 789 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$ZID_01 NA NA NA rs169068 0.56 0.56 0.527 0.518171 0.5427 0.8085 0.5562 0.3366 0.4121 0.55 0.81 0.54 0.3 0.5386 0.81 0.37 T 0.055 B 0.011 B 0.234 N 1.000 P 2.015 M -0.59 T -0.970 T 0.000 T 0.06 -0.133 3.347 2.24 0.883 0.488 6.593 -0.133417 NA 0.31 0.539152 0.383081 NA 0.58 NA 8.7128814 789 14 105407798 105407798 T C exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.A13990G:p.T4664A exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.A13990G:p.T4664A NA NA 14q32.33 NA NA NA NA rs4465542 0.52 0.52 0.538 0.555112 0.5338 0.4117 0.5115 0.6437 0.636 0.53 0.38 0.55 0.66 0.5458 0.67 0.79 T 0.0 B 0.0 B . . 1.000 P -0.345 N 6.13 T -1.026 T 0.000 T 0.01 -1.387 0.024 -3.43 -2.122 2.491 2.145 -1.386842 NA 0.21 0.541697 0.672225 NA 0.601 NA 8.7120364 789 8 28206275 28206275 G C exonic ZNF395 NA synonymous SNV ZNF395:NM_018660:exon10:c.C1503G:p.A501A exonic ENSG00000186918 NA synonymous SNV ENSG00000186918:ENST00000344423:exon10:c.C1503G:p.A501A,ENSG00000186918:ENST00000523095:exon10:c.C1503G:p.A501A,ENSG00000186918:ENST00000523202:exon10:c.C1503G:p.A501A Score=582;Name=lod=309 NA 8p21.1 Score=806;Name=V$PAX5_01 Name=NFKB,TAF1,Pol2-4H8,Pol2 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 789 14 44975511 44975511 G A exonic FSCB NA nonsynonymous SNV FSCB:NM_032135:exon1:c.C680T:p.P227L exonic ENSG00000189139 NA nonsynonymous SNV ENSG00000189139:ENST00000340446:exon1:c.C680T:p.P227L NA NA 14q21.2 NA NA NA NA rs45478391 0.13 0.13 0.12 0.108027 0.2296 0.0833 0.1009 0.0053 0.1524 0.24 0.09 0.14 0.01 0.1829 0.24 0.28 T 0.093 B 0.016 B . . 1.000 P 1.245 L 1.89 T -0.963 T 0.000 T 0.032 0.208 5.123 -5.98 -1.143 -0.326 2.104 0.208391 NA 0.01 0.211395 0.038357 NA 0.072 NA 8.7094384 789 18 32917644 32917644 T C exonic ZNF24 NA nonsynonymous SNV ZNF24:NM_006965:exon4:c.A659G:p.N220S exonic ENSG00000172466 NA nonsynonymous SNV ENSG00000172466:ENST00000261332:exon4:c.A659G:p.N220S,ENSG00000172466:ENST00000399061:exon4:c.A659G:p.N220S Score=490;Name=lod=131 NA 18q12.2 NA NA NA NA rs2032729 0.74 0.74 0.753 0.730631 0.9036 0.3571 0.8184 0.8555 0.7065 0.9 0.4 0.81 0.83 0.8199 0.9 0.62 T 0.003 B 0.001 B 0.000 N 0.000 P 0.69 N 3.64 T -1.020 T 0.000 T 0.011 0.058 4.318 3.9 1.070 1.988 7.635 0.058316 NA 0.2 0.900442 0.865865 NA 0.797 NA 8.7093914 789 6 117114223 117114223 T A exonic GPRC6A NA synonymous SNV GPRC6A:NM_148963:exon6:c.A1863T:p.T621T exonic ENSG00000173612 NA synonymous SNV ENSG00000173612:ENST00000368549:exon5:c.A1650T:p.T550T,ENSG00000173612:ENST00000310357:exon6:c.A1863T:p.T621T,ENSG00000173612:ENST00000530250:exon6:c.A1338T:p.T446T Score=445;Name=lod=86 NA 6q22.1 Score=922;Name=V$AREB6_02 Name=STAT3 Name=13 NA rs6924002 0.35 0.35 0.333 0.320887 0.3082 0.5228 0.3703 0.1989 0.2556 0.3 0.51 0.38 0.2 0.3196 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467539 NA NA 0.329884 0.208125 NA 0.283 NA 8.7089826 789 17 64023624 64023624 T C exonic CEP112 NA nonsynonymous SNV CEP112:NM_001199165:exon16:c.A1651G:p.K551E,CEP112:NM_145036:exon16:c.A1651G:p.K551E exonic ENSG00000154240 NA nonsynonymous SNV ENSG00000154240:ENST00000541355:exon8:c.A556G:p.K186E,ENSG00000154240:ENST00000537949:exon14:c.A1525G:p.K509E,ENSG00000154240:ENST00000392769:exon16:c.A1651G:p.K551E,ENSG00000154240:ENST00000535342:exon16:c.A1651G:p.K551E,ENSG00000154240:ENST00000583358:exon16:c.A1651G:p.K551E Score=472;Name=lod=110 NA 17q24.1 NA NA NA NA rs17704679 0.4 0.4 0.398 0.38099 0.5249 0.0913 0.317 0.5991 0.2822 0.53 0.12 0.34 0.59 0.5356 0.59 0.57 T 0.003 B 0.007 B 0.002 N 0.000 P 1.21 L 2.07 T -0.963 T 0.000 T 0.258 3.492 17.86 3.27 0.877 3.243 9.033 3.491676 3.491676 0.25 0.564304 0.594569 NA 0.435 NA 8.7085294 789 16 74808425 74808425 G A exonic FA2H NA synonymous SNV FA2H:NM_024306:exon1:c.C229T:p.L77L exonic ENSG00000103089 NA synonymous SNV ENSG00000103089:ENST00000219368:exon1:c.C229T:p.L77L,ENSG00000103089:ENST00000567683:exon1:c.C229T:p.L77L Score=608;Name=lod=396 NA 16q23.1 Score=895;Name=V$CP2_01 Name=Ini1,BAF155 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 789 14 105411700 105411700 A G exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.T10088C:p.V3363A exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.T10088C:p.V3363A NA NA 14q32.33 NA NA NA NA rs4264326 0.54 0.54 0.564 0.563498 0.5338 0.4137 0.513 0.6762 0.6319 0.53 0.39 0.56 0.73 0.5493 0.73 0.79 T 0.0 B 0.0 B 0.000 N 1.000 P -0.59 N 5.25 T -1.036 T 0.000 T 0.069 -1.031 0.218 3.13 0.977 -1.238 5.281 -1.031006 NA 1 0.544128 0.705659 ID=COSM1128312;OCCURENCE=1(prostate) 0.572 NA 8.7061054 790 4 187074833 187074833 A G exonic FAM149A NA nonsynonymous SNV FAM149A:NM_001006655:exon4:c.A121G:p.K41E,FAM149A:NM_015398:exon5:c.A121G:p.K41E exonic ENSG00000109794 NA nonsynonymous SNV ENSG00000109794:ENST00000389354:exon4:c.A121G:p.K41E,ENSG00000109794:ENST00000502970:exon4:c.A121G:p.K41E,ENSG00000109794:ENST00000227065:exon5:c.A121G:p.K41E,ENSG00000109794:ENST00000356371:exon5:c.A994G:p.K332E,ENSG00000109794:ENST00000503432:exon5:c.A121G:p.K41E,ENSG00000109794:ENST00000504330:exon5:c.A121G:p.K41E,ENSG00000109794:ENST00000510790:exon5:c.A121G:p.K41E,ENSG00000109794:ENST00000514153:exon5:c.A121G:p.K41E Score=343;Name=lod=33 NA 4q35.1 NA NA NA NA rs4862650 0.88 0.88 0.878 0.879792 0.8897 0.8204 0.8602 0.9297 0.8773 0.89 0.82 0.85 0.93 0.8617 0.93 1 T 0.0 B 0.0 B 0.000 N 0.989 P -2.54 N 1.29 T -0.956 T 0.000 T 0.256 -0.31 2.524 5.45 1.474 3.387 13.780 -0.310028 NA 1 0.876977 0.903314 NA 0.812 NA 8.7049564 790 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 790 4 144918712 144918712 C G exonic GYPB NA nonsynonymous SNV GYPB:NM_002100:exon4:c.G251C:p.S84T exonic;splicing ENSG00000250361;ENSG00000250361 ENST00000429670:exon5:c.176-1G>C nonsynonymous SNV ENSG00000250361:ENST00000513128:exon3:c.G152C:p.S51T,ENSG00000250361:ENST00000283126:exon4:c.G251C:p.S84T,ENSG00000250361:ENST00000502664:exon4:c.G251C:p.S84T NA NA 4q31.21 NA NA NA NA rs1132783 0.16 0.16 0.145 0.176118 0.1839 0.2054 0.1354 0.0666 0.3149 0.19 0.2 0.13 0.07 0.219 0.23 0.57 T 0.024 B 0.01 B 0.801 N 1.000 P . . 2.51 T -0.913 T 0.000 T 0.119 -0.775 0.744 -4.16 -0.582 -1.527 5.188 -0.775236 NA 0.56 0.228023 0.07938 NA 0.174 NA 8.7024104 790 17 30183857 30183857 T C exonic COPRS NA nonsynonymous SNV COPRS:NM_018405:exon2:c.A127G:p.S43G exonic ENSG00000172301 NA nonsynonymous SNV ENSG00000172301:ENST00000302362:exon2:c.A127G:p.S43G,ENSG00000172301:ENST00000378634:exon2:c.A91G:p.S31G,ENSG00000172301:ENST00000496655:exon2:c.A127G:p.S43G NA NA 17q11.2 NA NA Name=9 NA rs8068049 0.9 0.9 0.901 0.903954 0.8728 0.8681 0.8314 0.9955 0.9008 0.87 0.87 0.87 1 0.8826 1 1 T 0.0 B 0.0 B 0.755 N 1.000 P -0.145 N 1.19 T -0.990 T 0.000 T 0.02 -1.287 0.04 -7.21 -2.071 -3.028 2.484 -1.287114 NA 1 0.87593 0.96936 NA 0.891 NA 8.7020034 790 1 182369233 182369233 A G exonic TEDDM1 NA nonsynonymous SNV TEDDM1:NM_172000:exon1:c.T388C:p.Y130H exonic ENSG00000203730 NA nonsynonymous SNV ENSG00000203730:ENST00000367565:exon1:c.T388C:p.Y130H NA NA 1q25.3 NA NA NA NA rs6674281 0.66 0.66 0.653 0.678115 0.5417 0.8294 0.6124 0.761 0.5971 0.52 0.81 0.61 0.74 0.5751 0.81 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.845 N 1.48 T -0.958 T 0.000 T 0.122 -1.684 0.012 5.05 1.368 3.052 11.533 -1.684426 NA 1 0.51686 0.744666 NA 0.609 NA 8.6996734 790 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 790 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,Egr-1,Pol2,TAF1 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 790 2 201355106 201355106 G A exonic KCTD18 NA nonsynonymous SNV KCTD18:NM_152387:exon7:c.C998T:p.A333V exonic ENSG00000155729 NA nonsynonymous SNV ENSG00000155729:ENST00000359878:exon7:c.C998T:p.A333V,ENSG00000155729:ENST00000409157:exon7:c.C998T:p.A333V NA NA 2q33.1 NA NA NA NA rs13018579 0.12 0.12 0.109 0.0992412 0.2336 0.002 0.1427 0.0393 0.1115 0.23 0.0017 0.18 0.05 0.1756 0.23 0.93 T 0.02 B 0.018 B 0.370 N 1.000 P 0 N 1.32 T -1.027 T 0.000 T 0.039 1.771 11.88 2.38 0.404 2.880 6.697 1.770629 1.770629 0.09 0.226977 0.067862 NA 0.13 NA 8.6971564 790 11 534242 534242 A G exonic HRAS NA synonymous SNV HRAS:NM_001130442:exon2:c.T81C:p.H27H,HRAS:NM_005343:exon2:c.T81C:p.H27H,HRAS:NM_176795:exon2:c.T81C:p.H27H exonic ENSG00000174775 NA synonymous SNV ENSG00000174775:ENST00000397594:exon1:c.T81C:p.H27H,ENSG00000174775:ENST00000311189:exon2:c.T81C:p.H27H,ENSG00000174775:ENST00000397596:exon2:c.T81C:p.H27H,ENSG00000174775:ENST00000417302:exon2:c.T81C:p.H27H,ENSG00000174775:ENST00000451590:exon2:c.T81C:p.H27H,ENSG00000174775:ENST00000493230:exon2:c.T81C:p.H27H Score=656;Name=lod=619 NA 11p15.5 Score=689;Name=V$PPARG_02 NA NA Score=89;Name=354464_0_-_89 rs12628 0.3 0.3 0.275 0.297125 0.3121 0.1726 0.3646 0.3729 0.2597 0.3 0.19 0.39 0.36 0.3135 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.273932 1.273932 NA 0.34407 0.374943 ID=COSM249860;OCCURENCE=25(urinary_tract),1(skin) 0.297 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000038468.2;CLNDSDB=.;CLNDSDBID=. 8.6969966 790 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 791 11 6977175 6977175 G C exonic ZNF215 NA nonsynonymous SNV ZNF215:NM_013250:exon7:c.G967C:p.V323L exonic ENSG00000149054 NA nonsynonymous SNV ENSG00000149054:ENST00000414517:exon6:c.G967C:p.V323L,ENSG00000149054:ENST00000278319:exon7:c.G967C:p.V323L NA NA 11p15.4 NA NA NA NA rs2239730 0.22 0.22 0.238 0.195487 0.2326 0.1419 0.1311 0.3495 0.0501 0.24 0.16 0.15 0.33 0.1932 0.33 0.03 D 0.0 B 0.0 B 0.759 N 1.000 P 0 N 3.47 T -0.903 T 0.000 T 0.048 0.938 8.824 2.5 0.173 -0.162 9.256 0.938219 NA 0.42 0.213155 0.334545 ID=COSM1356621;OCCURENCE=1(large_intestine) 0.319 NA 8.6943784 791 17 4689572 4689572 T C exonic VMO1 NA nonsynonymous SNV VMO1:NM_001144939:exon1:c.A76G:p.T26A,VMO1:NM_001144940:exon1:c.A76G:p.T26A,VMO1:NM_001144941:exon1:c.A76G:p.T26A,VMO1:NM_182566:exon1:c.A76G:p.T26A exonic ENSG00000182853 NA nonsynonymous SNV ENSG00000182853:ENST00000328739:exon1:c.A76G:p.T26A,ENSG00000182853:ENST00000354194:exon1:c.A76G:p.T26A,ENSG00000182853:ENST00000416307:exon1:c.A76G:p.T26A,ENSG00000182853:ENST00000441199:exon1:c.A76G:p.T26A NA NA 17p13.2 NA Name=GATA3_(SC-268),GATA-2 Name=72 NA rs4790706 0.51 0.51 0.454 0.533546 0.5348 0.5516 0.4957 0.407 0.7117 0.56 0.51 0.51 0.42 0.572 0.56 0.6 T 0.0 B 0.0 B 0.170 N 1.000 P -0.805 N 1.33 T -0.946 T 0.000 T 0.015 -0.226 2.909 -3.6 -0.778 0.070 1.436 -0.225681 NA 1 0.532217 0.447118 NA 0.428 NA 8.6943164 791 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=PAX5-N19,EBF,BATF,Oct-2,SP1,YY1_(C-20),PAX5-C20,EBF1_(C-8),BCL11A,Pol2-4H8,IRF4_(M-17),BCL3,NFKB,Pol2,POU2F2,TCF12 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 791 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 791 19 47137459 47137459 C T exonic GNG8 NA synonymous SNV GNG8:NM_033258:exon2:c.G87A:p.V29V exonic ENSG00000167414 NA synonymous SNV ENSG00000167414:ENST00000300873:exon2:c.G87A:p.V29V Score=445;Name=lod=86 NA 19q13.32 Score=853;Name=V$CREB_Q2 Name=CCNT2,Egr-1,SP1,IRF1,HMGN3,ZEB1_(SC-25388),Pol2,E2F6_(H-50) Name=144 NA rs12974613 0.23 0.23 0.236 0.211062 0.341 0.0635 0.1988 0.2595 0.1728 0.33 0.07 0.24 0.26 0.2881 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.919979 NA NA 0.344535 0.279646 NA 0.283 NA 8.6930316 791 19 52520607 52520607 C T exonic ZNF614 NA nonsynonymous SNV ZNF614:NM_025040:exon5:c.G244A:p.G82R exonic ENSG00000142556 NA nonsynonymous SNV ENSG00000142556:ENST00000270649:exon5:c.G244A:p.G82R,ENSG00000142556:ENST00000356322:exon5:c.G244A:p.G82R NA NA 19q13.41 NA NA NA NA rs61574510 0.25 0.25 0.227 0.256789 0.2147 0.3998 0.2363 0.1543 0.3057 0.22 0.39 0.2 0.18 0.2387 0.39 0.43 T 0.006 B 0.001 B . . 1.000 P 0.205 N 5.99 T -0.917 T 0.000 T 0.024 -1.179 0.084 -3.3 -0.845 -2.865 5.223 -1.178794 NA 0.81 0.187209 0.152292 NA 0.174 NA 8.6927244 791 2 20824498 20824498 C T exonic HS1BP3 NA nonsynonymous SNV HS1BP3:NM_022460:exon5:c.G778A:p.V260M exonic ENSG00000118960 NA nonsynonymous SNV ENSG00000118960:ENST00000458740:exon2:c.G235A:p.V79M,ENSG00000118960:ENST00000304031:exon5:c.G778A:p.V260M NA NA 2p24.1 NA NA NA NA rs2305458 0.41 0.41 0.409 0.381989 0.5726 0.2748 0.4063 0.3139 0.3712 0.57 0.26 0.44 0.31 0.4873 0.58 0.13 T 0.004 B 0.002 B 0.001 N 1.000 P -0.69 N 2.28 T -0.977 T 0.000 T 0.218 0.906 8.686 -8.76 -2.766 -2.273 5.935 0.906356 NA 0.11 0.580814 0.328416 NA 0.478 NA 8.6926194 791 10 129903802 129903802 A G exonic MKI67 NA nonsynonymous SNV MKI67:NM_001145966:exon12:c.T5222C:p.I1741T,MKI67:NM_002417:exon13:c.T6302C:p.I2101T exonic ENSG00000148773 NA nonsynonymous SNV ENSG00000148773:ENST00000368653:exon12:c.T5222C:p.I1741T,ENSG00000148773:ENST00000368654:exon13:c.T6302C:p.I2101T NA NA 10q26.2 NA NA NA NA rs11016073 0.17 0.17 0.142 0.152955 0.2276 0.2262 0.1542 0.0166 0.184 0.23 0.2 0.16 0.02 0.1954 0.23 0.57 T 0.013 B 0.014 B 0.000 N 1.000 P 1.245 L 3.92 T -0.952 T 0.000 T 0.056 2.423 14.06 -8.87 -2.820 -0.759 7.160 2.423156 2.423156 0.03 0.217907 0.054925 NA 0.13 NA 8.6924264 791 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 791 X 142967468 142967468 T G exonic UBE2NL NA stopgain UBE2NL:NM_001012989:exon1:c.T266G:p.L89X exonic ENSG00000102069 NA stopgain ENSG00000102069:ENST00000370494:exon1:c.T266G:p.L89X Score=784;Name=lod=2038 NA Xq27.3 NA NA NA NA rs237520 0.62 0.62 0.61367 NA NA NA NA NA NA 0.65 0.63 0.59 0.6 0.6364 0.67 1 T . . . . 0.004 U 0.000 P . . . . . . . . . 0.86 8.482 1.06 0.695 5.490 6.055 0.860042 NA 1 0.673751 0.654759 NA 0.42 NA 8.689849 791 8 110437384 110437384 A G exonic PKHD1L1 NA nonsynonymous SNV PKHD1L1:NM_177531:exon24:c.A2768G:p.H923R exonic ENSG00000205038 NA nonsynonymous SNV ENSG00000205038:ENST00000378402:exon24:c.A2768G:p.H923R Score=587;Name=lod=325 NA 8q23.1 Score=810;Name=V$IRF7_01 NA NA NA rs4735133 0.56 0.56 0.559 0.61262 0.5219 0.3968 0.6585 0.7489 0.7117 0.51 0.42 0.63 0.74 0.5783 0.74 0.8 T 0.0 B 0.0 B 0.041 N 1.000 P -1.67 N -1.87 D -0.950 T 0.000 T 0.019 0.42 6.282 1.04 0.270 0.228 6.233 0.420189 NA 0.86 0.543297 0.732533 NA 0.594 NA 8.6898364 791 12 1995403 1995403 T C exonic CACNA2D4 NA nonsynonymous SNV CACNA2D4:NM_172364:exon8:c.A979G:p.I327V exonic ENSG00000151062 NA nonsynonymous SNV ENSG00000151062:ENST00000382722:exon8:c.A979G:p.I327V,ENSG00000151062:ENST00000444595:exon8:c.A979G:p.I327V,ENSG00000151062:ENST00000585708:exon8:c.A787G:p.I263V,ENSG00000151062:ENST00000586184:exon8:c.A979G:p.I327V,ENSG00000151062:ENST00000587995:exon8:c.A979G:p.I327V,ENSG00000151062:ENST00000588077:exon8:c.A787G:p.I263V Score=641;Name=lod=536 NA 12p13.33 NA NA NA NA rs10735005 0.93 0.93 0.928 0.937101 0.8509 0.999 0.8847 0.9947 0.9213 0.85 1 0.88 0.99 0.9064 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.895 N 3.23 T -0.957 T 0.000 T 0.067 0.69 7.686 5.17 1.201 3.136 13.933 0.690116 NA 1 0.886288 0.977436 NA 0.942 NA 8.6897454 791 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 791 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 791 13 28143229 28143229 A G exonic LNX2 NA nonsynonymous SNV LNX2:NM_153371:exon3:c.T592C:p.S198P exonic ENSG00000139517 NA nonsynonymous SNV ENSG00000139517:ENST00000316334:exon3:c.T592C:p.S198P Score=251;Name=lod=14 NA 13q12.2 NA NA NA NA rs8002697 0.53 0.53 0.534 0.529752 0.5736 0.4613 0.3818 0.6762 0.4622 0.56 0.44 0.43 0.66 0.5212 0.67 0.53 T 0.0 B 0.0 B 0.000 N 1.000 P -1.425 N 3.36 T -1.065 T 0.000 T 0.01 -0.496 1.725 3.03 0.141 1.916 10.560 -0.495664 NA 1 0.550233 0.666364 NA 0.435 NA 8.6883004 791 7 156761818 156761818 G A exonic NOM1 NA nonsynonymous SNV NOM1:NM_138400:exon10:c.G2336A:p.R779H exonic ENSG00000146909 NA nonsynonymous SNV ENSG00000146909:ENST00000275820:exon10:c.G2336A:p.R779H Score=522;Name=lod=176 NA 7q36.3 NA NA NA NA rs2302445 0.46 0.46 0.47 0.447284 0.5706 0.2778 0.5231 0.4334 0.4601 0.55 0.27 0.55 0.47 0.5046 0.57 0.9 T 0.028 B 0.01 B 0.027 N 0.998 P 0.175 N 2.65 T -0.933 T 0.000 T 0.061 0.297 5.608 2.73 0.002 1.128 1.439 0.296935 NA NA 0.570116 0.438039 NA 0.652 NA 8.6880174 791 2 136590746 136590746 C T exonic LCT NA nonsynonymous SNV LCT:NM_002299:exon2:c.G655A:p.V219I exonic ENSG00000115850 NA nonsynonymous SNV ENSG00000115850:ENST00000264162:exon2:c.G655A:p.V219I Score=278;Name=lod=18 NA 2q21.3 NA NA NA NA rs3754689 0.34 0.34 0.337 0.355032 0.2217 0.372 0.2637 0.5431 0.2853 0.22 0.36 0.29 0.53 0.2437 0.53 1 T 0.009 B 0.026 B 0.289 N 0.999 P -0.47 N 1.79 T -0.914 T 0.000 T 0.037 -1.108 0.136 2.81 0.408 0.084 7.644 -1.108297 NA 1 0.181163 0.444167 ID=COSM1399583;OCCURENCE=1(large_intestine) 0.225 NA 8.6867704 791 8 10465748 10465748 T C exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.A5860G:p.T1954A exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.A5860G:p.T1954A NA NA 8p23.1 NA NA NA NA rs11783478 0.64 0.64 0.584 0.649361 0.5089 0.9772 0.6657 0.4728 0.683 0.51 0.98 0.65 0.44 0.6071 0.98 1 T 0.0 B 0.0 B . . 1.000 P 0 N 3.67 T -0.989 T 0.000 T 0.009 -1.139 0.111 -2.32 -1.392 -2.487 3.758 -1.139015 NA 1 0.531399 0.502424 ID=COSM453782;OCCURENCE=1(breast) 0.543 NA 8.6859344 791 19 15582863 15582863 C T exonic PGLYRP2 NA nonsynonymous SNV PGLYRP2:NM_052890:exon3:c.G1181A:p.R394Q exonic ENSG00000161031 NA nonsynonymous SNV ENSG00000161031:ENST00000292609:exon3:c.G1181A:p.R394Q,ENSG00000161031:ENST00000340880:exon3:c.G1181A:p.R394Q Score=251;Name=lod=14 NA 19p13.12 NA Name=Egr-1 NA NA rs34440547 0.23 0.23 0.218 0.224641 0.2227 0.2966 0.2406 0.1581 0.2311 0.22 0.31 0.23 0.16 0.2199 0.31 0.21 T 0.025 B 0.015 B 0.357 N 1.000 P 1.245 L 2.26 T -0.942 T 0.000 T 0.041 0.325 5.762 0.993 -0.149 -0.486 8.934 0.324924 NA 0.18 0.205725 0.153951 NA 0.116 NA 8.6850084 792 9 37503087 37503087 G A exonic POLR1E NA nonsynonymous SNV POLR1E:NM_022490:exon12:c.G1148A:p.R383K exonic ENSG00000137054 NA nonsynonymous SNV ENSG00000137054:ENST00000377792:exon11:c.G1334A:p.R445K,ENSG00000137054:ENST00000377798:exon12:c.G1148A:p.R383K,ENSG00000137054:ENST00000442009:exon13:c.G938A:p.R313K NA NA 9p13.2 NA NA NA NA rs10814571 0.21 0.21 0.176 0.214657 0.2018 0.2431 0.3112 0.1694 0.1912 0.2 0.22 0.26 0.19 0.2288 0.26 0.63 T 0.001 B 0.002 B 0.311 N 1.000 P -1.995 N 2.12 T -0.921 T 0.000 T 0.024 0.338 5.831 -7.71 -0.965 -0.392 11.064 0.337637 NA 1 0.217907 0.182932 NA 0.159 NA 8.6848264 792 10 102247408 102247408 C A exonic SEC31B NA nonsynonymous SNV SEC31B:NM_015490:exon26:c.G3505T:p.A1169S exonic ENSG00000075826 NA nonsynonymous SNV ENSG00000075826:ENST00000370345:exon26:c.G3505T:p.A1169S Score=498;Name=lod=141 NA 10q24.31 NA NA NA NA rs2298075 0.19 0.19 0.189 0.188898 0.2018 0.129 0.1888 0.2088 0.2106 0.22 0.15 0.2 0.18 0.2201 0.23 0.12 T 0.02 B 0.015 B 0.062 N 0.000 P -0.425 N 0.78 T -1.028 T 0.000 T 0.034 0.747 7.962 1.23 0.477 3.426 7.753 0.747208 NA 0.22 0.227326 0.206083 ID=COSM426929;OCCURENCE=1(breast),1(large_intestine) 0.145 NA 8.6841074 792 8 143436034 143436034 A G exonic TSNARE1 NA nonsynonymous SNV TSNARE1:NM_145003:exon2:c.T52C:p.F18L exonic ENSG00000171045 NA nonsynonymous SNV ENSG00000171045:ENST00000520166:exon1:c.T52C:p.F18L,ENSG00000171045:ENST00000307180:exon2:c.T52C:p.F18L,ENSG00000171045:ENST00000519651:exon2:c.T52C:p.F18L,ENSG00000171045:ENST00000520462:exon2:c.T52C:p.F18L,ENSG00000171045:ENST00000524325:exon2:c.T52C:p.F18L,ENSG00000171045:ENST00000518720:exon3:c.T100C:p.F34L NA NA 8q24.3 NA NA NA NA rs7814359 0.33 0.33 0.338 0.355831 0.1978 0.3472 0.2896 0.6278 0.2065 0.18 0.37 0.27 0.56 0.2426 0.56 0.1 T 0.3 B 0.067 B 0.004 U 1.000 P 0.895 L 1.52 T -0.931 T 0.000 T 0.217 1.512 11.01 2.26 0.461 2.089 7.158 1.512251 1.512251 0 0.209651 0.548343 NA 0.413 NA 8.6832824 792 11 56237722 56237722 T A exonic OR5M3 NA nonsynonymous SNV OR5M3:NM_001004742:exon1:c.A252T:p.L84F exonic ENSG00000174937 NA nonsynonymous SNV ENSG00000174937:ENST00000312240:exon1:c.A252T:p.L84F NA NA 11q12.1 NA NA NA NA rs605734 0.15 0.15 0.157 0.125399 0.2227 0.129 0.1182 0.0287 0.1575 0.22 0.15 0.15 0.03 0.1917 0.24 0.09 T 0.022 B 0.049 B 0.146 N 1.000 P 1.42 L 4.93 T -0.926 T 0.000 T 0.113 0.933 8.801 -3.6 -0.724 -3.235 8.752 0.932832 NA 0.01 0.236088 0.06906 NA 0.145 NA 8.6828454 792 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 792 3 9867625 9867625 C T exonic ARPC4-TTLL3,TTLL3 NA synonymous SNV TTLL3:NM_001025930:exon8:c.C1296T:p.R432R,ARPC4-TTLL3:NM_001198793:exon9:c.C1050T:p.R350R exonic ENSG00000214021,ENSG00000250151 NA synonymous SNV ENSG00000214021:ENST00000383827:exon2:c.C231T:p.R77R,ENSG00000214021:ENST00000430793:exon2:c.C231T:p.R77R,ENSG00000214021:ENST00000438141:exon2:c.C231T:p.R77R,ENSG00000214021:ENST00000455274:exon2:c.C231T:p.R77R,ENSG00000214021:ENST00000473661:exon2:c.C231T:p.R77R,ENSG00000214021:ENST00000443148:exon5:c.C681T:p.R227R,ENSG00000214021:ENST00000427853:exon6:c.C231T:p.R77R,ENSG00000214021:ENST00000397241:exon8:c.C231T:p.R77R,ENSG00000214021:ENST00000426895:exon8:c.C1296T:p.R432R,ENSG00000214021:ENST00000547186:exon8:c.C867T:p.R289R,ENSG00000250151:ENST00000397256:exon9:c.C1050T:p.R350R Score=496;Name=lod=138 NA 3p25.3 NA NA NA NA rs3732527 0.52 0.52 0.549 0.473442 0.7167 0.2093 0.4438 0.5567 0.4039 0.73 0.21 0.5 0.55 0.5873 0.73 0 D . . . . 0.000 U 0.000 P . . 2.88 T -0.960 T 0.000 T . 0.451 6.449 -6.5 -0.650 -2.495 0.834 0.45091 NA NA 0.681628 0.582161 NA 0.601 NA 8.6810386 792 11 618013 618013 C T exonic CDHR5 NA nonsynonymous SNV CDHR5:NM_031264:exon13:c.G1477A:p.A493T,CDHR5:NM_001171968:exon14:c.G2041A:p.A681T,CDHR5:NM_021924:exon14:c.G2059A:p.A687T exonic ENSG00000099834 NA nonsynonymous SNV ENSG00000099834:ENST00000349570:exon13:c.G1477A:p.A493T,ENSG00000099834:ENST00000397542:exon14:c.G2059A:p.A687T,ENSG00000099834:ENST00000358353:exon15:c.G2059A:p.A687T NA NA 11p15.5 NA NA NA NA rs7108757 0.18 0.18 0.166 0.170327 0.2137 0.0198 0.2464 0.2708 0.091 0.21 0.01 0.27 0.28 0.1971 0.28 0.21 T 0.005 B 0.003 B . . 1.000 P -0.145 N 1.01 T -0.977 T 0.000 T 0.061 -0.276 2.676 -3.27 -1.468 -0.278 9.585 -0.276429 NA 0.31 0.242382 0.275455 NA 0.196 NA 8.6801514 792 7 7495735 7495735 T C exonic COL28A1 NA nonsynonymous SNV COL28A1:NM_001037763:exon16:c.A1311G:p.I437M exonic ENSG00000215018 NA nonsynonymous SNV ENSG00000215018:ENST00000399429:exon16:c.A1311G:p.I437M Score=435;Name=lod=78 NA 7p21.3 NA NA NA NA rs55745506 0.3 0.3 0.317 0.316294 0.2107 0.2103 0.2522 0.5726 0.2331 0.2 0.2 0.27 0.59 0.2391 0.59 0.13 T 0.0 B 0.001 B 0.199 N 1.000 P 0.24 N -3.39 D -0.971 T 0.000 T 0.028 0.948 8.864 1.44 -0.044 0.148 6.775 0.947737 NA 0.21 0.204022 0.484048 NA 0.275 NA 8.6795114 792 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 792 14 102568367 102568367 T A exonic HSP90AA1 NA nonsynonymous SNV HSP90AA1:NM_001017963:exon2:c.A211T:p.M71L exonic ENSG00000080824 NA nonsynonymous SNV ENSG00000080824:ENST00000334701:exon2:c.A211T:p.M71L NA NA 14q32.31 NA NA NA NA rs8005905 0.81 0.81 0.79 0.801118 0.8976 0.8194 0.9207 0.5946 0.8773 0.9 0.81 0.9 0.59 0.8652 0.9 0 D 0.0 B 0.0 B . . 1.000 P 0 N 3.06 T -0.963 T 0.000 T 0.018 -2.23 0.005 -2.93 -3.338 -1.596 0.912 -2.230415 NA 0 0.891628 0.674762 NA 0.79 NA 8.6789054 792 14 99182626 99182626 T C exonic C14orf177 NA nonsynonymous SNV C14orf177:NM_182560:exon3:c.T98C:p.V33A exonic ENSG00000176605 NA nonsynonymous SNV ENSG00000176605:ENST00000541516:exon2:c.T98C:p.V33A,ENSG00000176605:ENST00000325812:exon3:c.T98C:p.V33A NA NA 14q32.2 NA NA NA NA rs4905757 0.03 0.03 0.025 0.0209665 0.0636 0.001 0.0403 0.0023 0.0092 0.07 0.0017 0.04 0.0041 0.0374 0.07 0 D 0.504 P 0.373 B . . 1.000 N 0 N 1.12 T -1.044 T 0.006 T 0.078 0.262 5.415 -0.466 -0.100 -0.060 6.405 0.261821 NA NA 0.053837 0.00749 NA 0.087 NA 8.6784964 792 19 991968 991968 T C exonic WDR18 NA synonymous SNV WDR18:NM_024100:exon8:c.T945C:p.N315N exonic ENSG00000065268 NA synonymous SNV ENSG00000065268:ENST00000251289:exon8:c.T945C:p.N315N,ENSG00000065268:ENST00000587001:exon8:c.T945C:p.N315N Score=387;Name=lod=50 NA 19p13.3 Score=775;Name=V$CDP_01 Name=ZBTB7A_(SC-34508),IRF1 Name=95 NA rs1127043 0.36 0.36 0.32 0.394369 0.2962 0.4107 0.2738 0.4758 0.454 0.29 0.42 0.3 0.42 0.4028 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788122 NA NA 0.289736 0.456325 NA 0.029 NA 8.6779306 792 3 97983391 97983391 C T exonic OR5H6 NA nonsynonymous SNV OR5H6:NM_001005479:exon1:c.C263T:p.S88L exonic ENSG00000230301 NA nonsynonymous SNV ENSG00000230301:ENST00000383696:exon1:c.C263T:p.S88L NA NA 3q11.2 NA NA NA NA rs2173236 NA NA 0.567 0.380591 0.5636 0.1319 0.3559 0.4433 0.3814 NA NA NA NA 0.4632 0.67 0.03 D 0.001 B 0.001 B 0.267 N 1.000 N 0.08 N 7.44 T -0.954 T 0.000 T 0.037 0.818 8.291 -4.15 -1.226 0.046 6.419 0.817682 NA 0.1 0.629419 0.666818 NA 0.413 NA 8.6771144 793 14 21551069 21551069 T C exonic ARHGEF40 NA nonsynonymous SNV ARHGEF40:NM_018071:exon16:c.T3566C:p.L1189S exonic ENSG00000165801 NA nonsynonymous SNV ENSG00000165801:ENST00000298693:exon16:c.T3566C:p.L1189S,ENSG00000165801:ENST00000298694:exon16:c.T3566C:p.L1189S Score=358;Name=lod=38 NA 14q11.2 Score=844;Name=V$P300_01 NA NA NA rs1958396 0.83 0.83 0.825 0.859225 0.8807 0.6151 0.9452 0.9818 0.862 0.87 0.59 0.94 0.97 0.872 0.97 0.91 T 0.0 B 0.004 B 0.030 N 1.000 P -0.345 N 0.17 T -0.955 T 0.000 T 0.03 0.89 8.614 4.93 1.047 0.719 9.486 0.889846 NA 0.47 0.906047 0.959828 NA 0.899 NA 8.6745864 793 7 7514235 7514235 C G exonic COL28A1 NA nonsynonymous SNV COL28A1:NM_001037763:exon15:c.G1299C:p.E433D exonic ENSG00000215018 NA nonsynonymous SNV ENSG00000215018:ENST00000399429:exon15:c.G1299C:p.E433D Score=516;Name=lod=167 NA 7p21.3 NA NA NA NA rs6952195 0.32 0.32 0.335 0.338259 0.2117 0.2113 0.2565 0.6536 0.2311 0.2 0.2 0.26 0.68 0.2451 0.68 0.68 T 0.0 B 0.0 B 0.002 N 1.000 P 0.835 L -0.84 T -0.913 T 0.000 T 0.031 -0.655 1.123 2.82 0.275 0.669 2.926 -0.654628 NA 0.98 0.203334 0.560215 ID=COSM150235;OCCURENCE=1(stomach) 0.312 NA 8.6731994 793 1 39957913 39957913 A G exonic BMP8A NA nonsynonymous SNV BMP8A:NM_181809:exon1:c.A250G:p.M84V exonic ENSG00000183682 NA nonsynonymous SNV ENSG00000183682:ENST00000331593:exon1:c.A250G:p.M84V Score=554;Name=lod=239 NA 1p34.3 NA NA NA NA rs4660269 0.68 0.68 0.742 0.672324 0.8887 0.6825 0.8069 0.2897 0.8609 0.9 0.67 0.82 0.27 0.8538 0.92 . . 0.008 B 0.021 B 0.000 U 0.016 P 1.1 L -0.1 T -1.003 T 0.000 T 0.095 1.871 12.21 3.32 1.285 2.578 7.876 1.871113 1.871113 0.31 0.918019 0.523977 NA 0.377 NA 8.6728144 793 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 793 19 6737481 6737481 T C exonic GPR108 NA nonsynonymous SNV GPR108:NM_001080452:exon1:c.A107G:p.Q36R exonic ENSG00000125734 NA nonsynonymous SNV ENSG00000125734:ENST00000264080:exon1:c.A107G:p.Q36R Score=431;Name=lod=75 NA 19p13.3 NA Name=Pol2(b),CCNT2,ZNF263,JunD,TCF4,SIX5,TAF1,HMGN3,Pol2-4H8,HEY1,FOXA1_(C-20),Pol2,p300 NA NA rs340138 0.9 0.9 0.876 0.886581 0.8936 0.9861 0.9236 0.8434 0.8088 0.88 0.99 0.92 0.83 0.8804 0.99 0.51 T 0.0 B 0.0 B 0.029 N 0.000 P -2.14 N 2.05 T -0.973 T 0.000 T 0.044 0.129 4.694 3.1 0.997 0.194 5.359 0.128956 NA 0.86 0.887237 0.880966 NA 0.754 NA 8.6720964 793 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 793 3 122259606 122259606 T C exonic PARP9 NA nonsynonymous SNV PARP9:NM_001146102:exon8:c.A1583G:p.Y528C,PARP9:NM_001146103:exon8:c.A1478G:p.Y493C,PARP9:NM_001146104:exon8:c.A1478G:p.Y493C,PARP9:NM_001146105:exon8:c.A1478G:p.Y493C,PARP9:NM_001146106:exon8:c.A1478G:p.Y493C,PARP9:NM_031458:exon8:c.A1583G:p.Y528C exonic ENSG00000138496 NA nonsynonymous SNV ENSG00000138496:ENST00000492382:exon6:c.A218G:p.Y73C,ENSG00000138496:ENST00000360356:exon8:c.A1583G:p.Y528C,ENSG00000138496:ENST00000462315:exon8:c.A1478G:p.Y493C,ENSG00000138496:ENST00000471785:exon8:c.A1478G:p.Y493C,ENSG00000138496:ENST00000477522:exon8:c.A1478G:p.Y493C NA NA 3q21.1 NA NA NA NA rs9851180 0.54 0.54 0.55 0.506589 0.5567 0.6548 0.4092 0.4191 0.4898 0.55 0.66 0.44 0.44 0.5385 0.66 0.06 T 0.0 B 0.0 B 0.011 N 1.000 P -1.39 N 3.32 T -0.914 T 0.000 T 0.077 0.765 8.048 -8.73 -1.542 -1.579 7.786 0.76542 NA 0.2 0.567326 0.46936 NA 0.493 NA 8.6708074 793 4 25363901 25363901 T A exonic ZCCHC4 NA nonsynonymous SNV ZCCHC4:NM_024936:exon10:c.T1187A:p.L396H exonic ENSG00000168228 NA nonsynonymous SNV ENSG00000168228:ENST00000302874:exon10:c.T1187A:p.L396H Score=507;Name=lod=153 NA 4p15.2 NA NA NA NA rs315675 0.88 0.88 0.88 0.876398 0.8946 0.7391 0.8818 0.9924 0.8384 0.9 0.77 0.88 0.99 0.8744 0.99 0.14 T 0.0 B 0.0 B 0.024 N 1.000 P -0.695 N 1.64 T -0.978 T 0.000 T 0.354 1.58 11.24 4.7 1.070 1.913 8.458 1.579939 1.579939 0.15 0.894266 0.975983 NA 0.819 NA 8.6700674 793 6 32122386 32122386 C G exonic PPT2 NA nonsynonymous SNV PPT2:NM_001204103:exon2:c.C15G:p.C5W,PPT2:NM_005155:exon2:c.C15G:p.C5W,PPT2:NM_138717:exon2:c.C33G:p.C11W exonic ENSG00000221988,ENSG00000258388 NA nonsynonymous SNV ENSG00000221988:ENST00000436118:exon1:c.C15G:p.C5W,ENSG00000258388:ENST00000583227:exon1:c.C15G:p.C5W,ENSG00000221988:ENST00000324816:exon2:c.C15G:p.C5W,ENSG00000221988:ENST00000361568:exon2:c.C33G:p.C11W,ENSG00000221988:ENST00000375137:exon2:c.C15G:p.C5W,ENSG00000221988:ENST00000375143:exon2:c.C15G:p.C5W,ENSG00000258388:ENST00000422437:exon2:c.C15G:p.C5W,ENSG00000221988:ENST00000424499:exon2:c.C15G:p.C5W,ENSG00000258388:ENST00000428388:exon2:c.C15G:p.C5W,ENSG00000221988:ENST00000445576:exon2:c.C15G:p.C5W,ENSG00000258388:ENST00000585246:exon2:c.C15G:p.C5W,ENSG00000221988:ENST00000395523:exon3:c.C15G:p.C5W,ENSG00000221988:ENST00000414204:exon3:c.C15G:p.C5W Score=428;Name=lod=73 NA 6p21.32 NA Name=ZBTB7A_(SC-34508),CCNT2,Egr-1,ZNF263,c-Myc,TAL1_(SC-12984),IRF1,Mxi1_(bHLH),THAP1_(SC-98174),Sin3Ak-20,HMGN3,TAF1,GATA-1,HEY1,ETS1,GATA2_(CG2-96),Pol2,CTCF,HDAC2_(SC-6296) Name=114 NA rs3134604 0.92 0.92 0.918 0.932109 0.8966 0.9236 0.9452 0.9728 0.9131 0.9 0.91 0.94 0.97 0.9036 0.97 0.29 T 0.0 B 0.0 B 0.916 N 0.000 P 0 N 1.57 T -0.962 T 0.306 T 0.364 0.788 8.154 2.91 0.203 0.811 8.249 0.788028 NA 1 0.863485 0.96057 NA 0.819 NA 8.6696484 793 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 793 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 793 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$NF1_Q6 Name=CTCF Name=2 NA rs526338 0.4 0.4 0.403 0.381789 0.7137 0.2212 0.415 0.0635 0.6125 0.71 0.23 0.47 0.08 0.576 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.015152 2.015152 NA 0.708052 0.165152 NA 0.507 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117850.2;CLNDSDB=.;CLNDSDBID=. 8.6689146 793 8 10465942 10465942 T A exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.A5666T:p.D1889V exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.A5666T:p.D1889V NA NA 8p23.1 NA NA NA NA rs28446662 0.26 0.26 0.201 0.23742 0.2147 0.3929 0.3386 0.1679 0.1227 0.22 0.42 0.28 0.13 0.2501 0.42 0.28 T 0.005 B 0.006 B . . 1.000 P 0 N 3.17 T -0.921 T 0.000 T 0.033 -0.064 3.686 -2.8 -0.837 -1.203 4.542 -0.064495 NA 0.02 0.200987 0.185963 NA 0.203 NA 8.6675464 793 11 46702920 46702920 T C exonic ARHGAP1 NA synonymous SNV ARHGAP1:NM_004308:exon6:c.A459G:p.K153K exonic ENSG00000175220 NA synonymous SNV ENSG00000175220:ENST00000311956:exon6:c.A459G:p.K153K,ENSG00000175220:ENST00000525488:exon6:c.A459G:p.K153K Score=649;Name=lod=577 NA 11p11.2 NA NA NA NA rs4268467 1 1 1 0.999201 1 1 0.9986 0.9977 1 1 1 1 1 0.9997 1 0 D . . . . 0.000 D 0.000 P . . -0.48 T -1.059 T 0.000 T . 0.561 7.035 3.21 0.571 1.662 9.210 0.561345 NA NA 1 0.995911 NA 1 NA 8.6669666 793 2 49189921 49189921 C T exonic FSHR NA nonsynonymous SNV FSHR:NM_181446:exon9:c.G1961A:p.S654N,FSHR:NM_000145:exon10:c.G2039A:p.S680N exonic ENSG00000170820 NA nonsynonymous SNV ENSG00000170820:ENST00000541117:exon7:c.G1247A:p.S416N,ENSG00000170820:ENST00000304421:exon9:c.G1961A:p.S654N,ENSG00000170820:ENST00000346173:exon9:c.G1853A:p.S618N,ENSG00000170820:ENST00000406846:exon10:c.G2039A:p.S680N Score=371;Name=lod=43 NA 2p16.3 Score=828;Name=V$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 793 2 208591568 208591568 C A exonic CCNYL1 NA synonymous SNV CCNYL1:NM_001142300:exon3:c.C298A:p.R100R,CCNYL1:NM_152523:exon4:c.C88A:p.R30R exonic ENSG00000163249 NA synonymous SNV ENSG00000163249:ENST00000295414:exon3:c.C298A:p.R100R,ENSG00000163249:ENST00000339882:exon3:c.C298A:p.R100R,ENSG00000163249:ENST00000392209:exon4:c.C88A:p.R30R Score=592;Name=lod=341 NA 2q33.3 Score=790;Name=V$MEF2_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 NA NA NA NA NA NA NA 2.148746 2.148746 NA NA NA NA NA NA 8.6666666 793 17 76137175 76137175 C A exonic TMC8 NA synonymous SNV TMC8:NM_152468:exon16:c.C2163A:p.P721P exonic ENSG00000167895 NA synonymous SNV ENSG00000167895:ENST00000589691:exon15:c.C1494A:p.P498P,ENSG00000167895:ENST00000318430:exon16:c.C2163A:p.P721P Score=251;Name=lod=14 NA 17q25.3 NA Name=ZBTB7A_(SC-34508) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004157 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071564 NA NA NA NA NA NA NA 8.666625 793 12 52452716 52452716 G A exonic NR4A1 NA synonymous SNV NR4A1:NM_173157:exon7:c.G1785A:p.T595T,NR4A1:NM_001202233:exon8:c.G1824A:p.T608T,NR4A1:NM_002135:exon8:c.G1785A:p.T595T exonic ENSG00000123358 NA synonymous SNV ENSG00000123358:ENST00000394825:exon7:c.G1785A:p.T595T,ENSG00000123358:ENST00000550082:exon7:c.G1824A:p.T608T,ENSG00000123358:ENST00000243050:exon8:c.G1785A:p.T595T,ENSG00000123358:ENST00000360284:exon8:c.G1824A:p.T608T,ENSG00000123358:ENST00000394824:exon8:c.G1785A:p.T595T,ENSG00000123358:ENST00000545748:exon8:c.G1947A:p.T649T NA NA 12q13.13 NA Name=Pol2(b) Name=42 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 0.512964 NA NA NA NA NA NA NA 8.6665666 794 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 794 1 160920966 160920966 C T exonic ITLN2 NA nonsynonymous SNV ITLN2:NM_080878:exon4:c.G308A:p.R103H exonic ENSG00000158764 NA nonsynonymous SNV ENSG00000158764:ENST00000368029:exon4:c.G308A:p.R103H NA NA 1q23.3 NA NA NA NA rs6680969 0.53 0.53 0.492 0.488219 0.5736 0.5635 0.6066 0.3101 0.4796 0.57 0.6 0.6 0.34 0.5356 0.6 0.54 T 0.007 B 0.004 B 0.009 N 1.000 P -0.895 N 1.55 T -1.093 T 0.005 T 0.024 -1.779 0.01 -7.71 -4.850 -4.621 5.206 -1.778554 NA 0.48 0.56 0.355878 NA 0.514 NA 8.6641334 794 6 55443830 55443830 C T exonic HMGCLL1 NA synonymous SNV HMGCLL1:NM_001042406:exon1:c.G24A:p.V8V,HMGCLL1:NM_019036:exon1:c.G24A:p.V8V exonic ENSG00000146151 NA synonymous SNV ENSG00000146151:ENST00000274901:exon1:c.G24A:p.V8V,ENSG00000146151:ENST00000308161:exon1:c.G24A:p.V8V,ENSG00000146151:ENST00000358072:exon1:c.G24A:p.V8V,ENSG00000146151:ENST00000370850:exon1:c.G24A:p.V8V,ENSG00000146151:ENST00000370852:exon1:c.G24A:p.V8V,ENSG00000146151:ENST00000398661:exon1:c.G24A:p.V8V,ENSG00000146151:ENST00000428842:exon1:c.G24A:p.V8V,ENSG00000146151:ENST00000508459:exon1:c.G24A:p.V8V,ENSG00000146151:ENST00000515546:exon1:c.G24A:p.V8V Score=574;Name=lod=286 NA 6p12.1 NA Name=CTCF,HA-E2F1,ZNF263 Name=23 NA rs202041427 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0013 0.0016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.840594 1.840594 NA 0.001561 0.00025 NA NA NA 8.6638056 794 2 197870536 197870536 T C exonic ANKRD44 NA synonymous SNV ANKRD44:NM_001195144:exon21:c.A2229G:p.A743A exonic ENSG00000065413 NA synonymous SNV ENSG00000065413:ENST00000424317:exon15:c.A1674G:p.A558A,ENSG00000065413:ENST00000282272:exon20:c.A2205G:p.A735A,ENSG00000065413:ENST00000337207:exon20:c.A2154G:p.A718A,ENSG00000065413:ENST00000450567:exon20:c.A2154G:p.A718A,ENSG00000065413:ENST00000328737:exon21:c.A2154G:p.A718A NA NA 2q33.1 Score=786;Name=V$COMP1_01 Name=USF2,USF-1,E2F6_(H-50) Name=7 NA rs149494060 NA NA NA 0.000399361 0.001 NA 0.0014 NA NA NA NA NA NA 0.0012 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 1.075486 NA NA 0.00186 0.000227 NA NA NA 8.6626066 794 2 179615887 179615887 T C exonic TTN NA nonsynonymous SNV TTN:NM_133379:exon46:c.A11240G:p.D3747G exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000360870:exon46:c.A11240G:p.D3747G NA NA 2q31.2 NA NA NA NA rs922984 0.78 0.78 0.784 0.733027 0.9135 0.7758 0.6412 0.5749 0.7822 0.92 0.77 0.73 0.6 0.8271 0.93 0.57 T 0.0 B 0.0 B . . 1.000 P 0 N 0.36 T -0.941 T 0.000 T 0.012 3.426 17.58 4.54 2.326 1.938 5.885 3.426069 3.426069 0.03 0.930252 0.599091 NA 0.797 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041005.1|RCV000126060.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.6624814 794 7 128801555 128801555 C T exonic TSPAN33 NA synonymous SNV TSPAN33:NM_178562:exon2:c.C138T:p.Y46Y exonic ENSG00000158457 NA synonymous SNV ENSG00000158457:ENST00000289407:exon2:c.C138T:p.Y46Y Score=374;Name=lod=44 NA 7q32.1 NA Name=PAX5-C20,PAX5-N19 Name=6 NA rs149626402 NA NA NA 0.000399361 0.002 NA NA NA NA NA NA NA NA 0.0012 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 -1.073546 NA NA 0.00186 0.001135 NA NA NA 8.6616066 794 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 794 11 112064323 112064323 T C exonic BCO2 NA synonymous SNV BCO2:NM_001256400:exon2:c.T105C:p.I35I,BCO2:NM_001037290:exon3:c.T318C:p.I106I,BCO2:NM_001256397:exon3:c.T318C:p.I106I,BCO2:NM_001256398:exon3:c.T420C:p.I140I,BCO2:NM_031938:exon3:c.T420C:p.I140I exonic ENSG00000197580 NA synonymous SNV ENSG00000197580:ENST00000532593:exon2:c.T105C:p.I35I,ENSG00000197580:ENST00000357685:exon3:c.T420C:p.I140I,ENSG00000197580:ENST00000361053:exon3:c.T420C:p.I140I,ENSG00000197580:ENST00000393032:exon3:c.T318C:p.I106I,ENSG00000197580:ENST00000438022:exon3:c.T318C:p.I106I,ENSG00000197580:ENST00000526088:exon3:c.T318C:p.I106I,ENSG00000197580:ENST00000531169:exon3:c.T318C:p.I106I Score=518;Name=lod=170 NA 11q23.1 NA NA NA NA rs145002872 0.0005 0.0005 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0013 NA NA NA 0.0012 0.0034 . . . . . . . . 1.000 D . . . . -0.874 T 0.209 T . 2.658 14.85 1.92 0.365 0.118 9.393 2.657978 2.657978 NA 0.003374 0.000454 NA NA NA 8.6600926 794 16 84213434 84213434 A T exonic TAF1C NA nonsynonymous SNV TAF1C:NM_001243158:exon11:c.T727A:p.L243M,TAF1C:NM_001243157:exon12:c.T727A:p.L243M,TAF1C:NM_001243160:exon12:c.T292A:p.L98M,TAF1C:NM_001243159:exon14:c.T496A:p.L166M,TAF1C:NM_005679:exon14:c.T1723A:p.L575M,TAF1C:NM_001243156:exon15:c.T1645A:p.L549M,TAF1C:NM_139353:exon15:c.T1441A:p.L481M exonic ENSG00000103168 NA nonsynonymous SNV ENSG00000103168:ENST00000570117:exon11:c.T727A:p.L243M,ENSG00000103168:ENST00000378541:exon13:c.T1723A:p.L575M,ENSG00000103168:ENST00000567759:exon14:c.T1723A:p.L575M,ENSG00000103168:ENST00000341690:exon15:c.T1441A:p.L481M,ENSG00000103168:ENST00000541676:exon15:c.T1444A:p.L482M,ENSG00000103168:ENST00000566732:exon15:c.T1645A:p.L549M NA NA 16q24.1 NA NA NA NA rs2230129 0.35 0.35 0.37 0.320288 0.3936 0.375 0.4481 0.1626 0.3108 0.39 0.41 0.4 0.19 0.4008 0.41 0.29 T 0.972 D 0.693 P 0.952 U 1.000 P 0.69 N 3.75 T -0.902 T 0.000 T 0.167 2.181 13.25 1.24 -0.011 -1.933 4.172 2.181226 2.181226 0.25 0.379672 0.173163 NA 0.188 NA 8.6592614 794 7 23731172 23731172 C T exonic FAM221A NA synonymous SNV FAM221A:NM_001127365:exon3:c.C420T:p.S140S,FAM221A:NM_001127364:exon4:c.C594T:p.S198S,FAM221A:NM_199136:exon4:c.C594T:p.S198S exonic ENSG00000188732 NA synonymous SNV ENSG00000188732:ENST00000409653:exon3:c.C420T:p.S140S,ENSG00000188732:ENST00000409994:exon3:c.C420T:p.S140S,ENSG00000188732:ENST00000344962:exon4:c.C594T:p.S198S,ENSG00000188732:ENST00000409192:exon4:c.C594T:p.S198S Score=615;Name=lod=422 NA 7p15.3 NA Name=GR,GATA3_(SC-268) Name=35 NA rs148660873 0.0005 0.0005 0.001 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0031 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 1.196165 NA NA 0.003721 0.001816 NA NA NA 8.6588456 794 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 794 9 894156 894156 C G exonic DMRT1 NA synonymous SNV DMRT1:NM_021951:exon3:c.C783G:p.P261P exonic ENSG00000137090 NA synonymous SNV ENSG00000137090:ENST00000382276:exon3:c.C783G:p.P261P,ENSG00000137090:ENST00000569227:exon3:c.C309G:p.P103P NA NA 9p24.3 Score=811;Name=V$GRE_C Name=PAX5-N19,EBF,PAX5-C20,SETDB1,Oct-2,SP1,SRF,YY1_(C-20),Pbx3,ELF1_(SC-631),BCL11A,EBF1_(C-8),MEF2A,NFKB,BCL3,POU2F2,CTCF,TCF12,CHD2_(N-1250) Name=123 NA rs34946058 NA NA NA 0.00139776 0.005 NA 0.0014 NA 0.001 NA NA 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 -0.938053 NA NA NA NA NA NA NA 8.6573666 794 16 30456729 30456729 C T exonic SEPHS2 NA unknown UNKNOWN exonic ENSG00000179918 NA nonsynonymous SNV ENSG00000179918:ENST00000542752:exon2:c.G149A:p.G50D NA NA 16p11.2 NA Name=TAF1,GABP,ELF1_(SC-631),Pol2,E2F6_(H-50),CTCF,CCNT2,Egr-1,ZBTB7A_(SC-34508),Sin3Ak-20 Name=115 NA rs11557070 NA NA NA 0.00139776 0.003 0.001 0.0014 0.0008 0.001 NA NA NA NA 0.0036 0.0029 0.62 T 0.001 B 0.002 B 0.350 N 1.000 N 0 N 0.97 T -1.006 T 0.046 T 0.689 -0.773 0.752 0.785 -0.019 -0.704 8.631 -0.772558 NA NA 0.002944 0.000272 NA NA NA 8.6571227 794 1 92445257 92445257 C G exonic BRDT NA nonsynonymous SNV BRDT:NM_001242807:exon7:c.C1092G:p.N364K,BRDT:NM_001242808:exon7:c.C1092G:p.N364K,BRDT:NM_001242806:exon8:c.C1242G:p.N414K,BRDT:NM_001242810:exon8:c.C1011G:p.N337K,BRDT:NM_001726:exon8:c.C1230G:p.N410K,BRDT:NM_207189:exon8:c.C1230G:p.N410K,BRDT:NM_001242805:exon9:c.C1230G:p.N410K exonic ENSG00000137948 NA nonsynonymous SNV ENSG00000137948:ENST00000394530:exon7:c.C1092G:p.N364K,ENSG00000137948:ENST00000370389:exon8:c.C1011G:p.N337K,ENSG00000137948:ENST00000399546:exon8:c.C1230G:p.N410K,ENSG00000137948:ENST00000402388:exon8:c.C1230G:p.N410K,ENSG00000137948:ENST00000426141:exon8:c.C1230G:p.N410K,ENSG00000137948:ENST00000362005:exon9:c.C1230G:p.N410K Score=480;Name=lod=119 NA 1p22.1 NA NA NA NA rs3088232 0.13 0.13 0.113 0.130391 0.2167 0.0278 0.2392 0.0242 0.2137 0.23 0.03 0.22 0.04 0.2111 0.25 0.08 T 0.013 B 0.007 B 0.891 N 0.880 P 0.805 L 3.36 T -0.935 T 0.007 T 0.101 0.93 8.787 3.76 0.728 0.236 2.525 0.929564 NA 0.1 0.248488 0.05901 NA 0.181 NA 8.6570454 794 1 78280825 78280825 C T exonic FAM73A NA synonymous SNV FAM73A:NM_001270384:exon7:c.C804T:p.L268L,FAM73A:NM_198549:exon7:c.C804T:p.L268L exonic ENSG00000180488 NA synonymous SNV ENSG00000180488:ENST00000443751:exon6:c.C690T:p.L230L,ENSG00000180488:ENST00000370791:exon7:c.C804T:p.L268L Score=548;Name=lod=226 NA 1p31.1 Score=767;Name=V$PAX6_01 NA Name=13 NA rs34847707 0.0009 0.0009 0.002 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0033 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 -0.996704 NA NA 0.004651 0.001362 NA NA NA 8.6567156 794 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 794 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 794 6 97677118 97677118 G A exonic MMS22L NA nonsynonymous SNV MMS22L:NM_198468:exon14:c.C1691T:p.T564M exonic ENSG00000146263 NA nonsynonymous SNV ENSG00000146263:ENST00000369251:exon12:c.C1571T:p.T524M,ENSG00000146263:ENST00000275053:exon14:c.C1691T:p.T564M NA NA 6q16.1 NA NA NA NA rs9481410 0.52 0.52 0.509 0.53095 0.7734 0.2381 0.5519 0.469 0.6524 0.76 0.21 0.56 0.47 0.65 0.76 0.04 D 0.992 D 0.809 P 0.049 N 1.000 P 1.7 L 1.53 T -1.045 T 0.071 T 0.105 1.075 9.388 3.72 0.700 0.402 10.527 1.074643 NA 0 0.754767 0.503858 NA 0.616 NA 8.6551664 795 1 201183363 201183363 C T exonic IGFN1 NA synonymous SNV IGFN1:NM_001164586:exon13:c.C8787T:p.A2929A exonic ENSG00000163395 NA synonymous SNV ENSG00000163395:ENST00000295591:exon13:c.C267T:p.A89A,ENSG00000163395:ENST00000335211:exon13:c.C8787T:p.A2929A,ENSG00000163395:ENST00000437879:exon14:c.C1416T:p.A472A,ENSG00000163395:ENST00000451870:exon14:c.C1416T:p.A472A NA NA 1q32.1 NA NA NA NA rs2282415 0.32 0.32 0.283 0.32508 0.3479 0.3095 0.3184 0.2542 0.4182 0.35 0.33 0.31 0.27 0.3309 0.35 . . . . . . . . 1.000 P . . . . -0.969 T 0.000 T . 0.633 7.4 -5.38 -1.165 -3.675 6.030 0.632592 NA NA 0.33345 0.269632 NA 0.268 NA 8.6544166 795 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 795 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$PAX5_02 NA NA NA rs2154028 0.88 0.88 0.872 0.877596 0.8936 0.9038 0.9107 0.8086 0.9039 0.89 0.92 0.9 0.81 0.8952 0.92 0.56 T 0.0 B 0.002 B 0.000 N 0.000 P -0.07 N 2.61 T -1.015 T 0.000 T 0.075 -0.625 1.228 5.13 0.907 2.211 9.734 -0.624843 NA 1 0.892209 0.823423 NA 0.913 NA 8.6523244 795 12 53445677 53445677 T C exonic TENC1 NA synonymous SNV TENC1:NM_015319:exon2:c.T144C:p.V48V,TENC1:NM_170754:exon2:c.T114C:p.V38V exonic ENSG00000111077 NA synonymous SNV ENSG00000111077:ENST00000314250:exon2:c.T114C:p.V38V,ENSG00000111077:ENST00000314276:exon2:c.T144C:p.V48V,ENSG00000111077:ENST00000451358:exon2:c.T114C:p.V38V,ENSG00000111077:ENST00000546602:exon2:c.T114C:p.V38V,ENSG00000111077:ENST00000549700:exon2:c.T114C:p.V38V,ENSG00000111077:ENST00000552570:exon2:c.T114C:p.V38V Score=569;Name=lod=275 NA 12q13.13 Score=796;Name=V$STAT1_01 Name=CEBPB NA NA rs147085802 0.0032 0.0032 0.002 0.00359425 0.006 NA 0.0072 0.0008 0.0061 0.004 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 1.780308 1.780308 NA 0.005 0.001362 NA NA NA 8.6519666 795 19 50435862 50435862 C T exonic ATF5 NA nonsynonymous SNV ATF5:NM_001193646:exon3:c.C362T:p.P121L,ATF5:NM_012068:exon4:c.C362T:p.P121L exonic ENSG00000169136 NA nonsynonymous SNV ENSG00000169136:ENST00000423777:exon3:c.C362T:p.P121L,ENSG00000169136:ENST00000596658:exon3:c.C362T:p.P121L,ENSG00000169136:ENST00000595125:exon4:c.C362T:p.P121L,ENSG00000169136:ENST00000597227:exon4:c.C362T:p.P121L Score=577;Name=lod=295 NA 19q13.33 NA NA NA NA rs283526 0.6 0.6 0.72 0.66853 0.5169 0.6538 0.6412 0.9274 0.5092 0.49 0.62 0.59 0.78 0.6388 0.87 0.71 T 0.0 B 0.0 B 0.598 N 0.000 P -1.525 N 1.04 T -1.004 T 0.000 T 0.079 -0.837 0.581 2.87 0.499 1.942 6.571 -0.837221 NA 0.66 0.527049 0.869894 ID=COSM440013;OCCURENCE=1(breast) 0.007 NA 8.6505844 795 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 795 1 12252955 12252955 T G exonic TNFRSF1B NA nonsynonymous SNV TNFRSF1B:NM_001066:exon6:c.T587G:p.M196R exonic ENSG00000028137 NA nonsynonymous SNV ENSG00000028137:ENST00000376259:exon6:c.T587G:p.M196R NA NA 1p36.22 NA NA NA NA rs1061622 0.2 0.2 0.183 0.194688 0.2177 0.1498 0.1268 0.1868 0.2761 0.23 0.17 0.15 0.21 0.2249 0.24 0.18 T 0.0 B 0.001 B 0.217 N 1.000 P 0.31 N 0.18 T -1.075 T 0.000 T 0.068 1.311 10.29 -4.13 -0.694 -1.738 7.083 1.310596 1.310596 0.09 0.240581 0.210849 ID=COSM146406;OCCURENCE=1(stomach) 0.304 NA 8.6501524 795 14 23866440 23866440 G A exonic MYH6 NA synonymous SNV MYH6:NM_002471:exon17:c.C1989T:p.N663N exonic ENSG00000197616 NA synonymous SNV ENSG00000197616:ENST00000356287:exon16:c.C1989T:p.N663N,ENSG00000197616:ENST00000405093:exon17:c.C1989T:p.N663N Score=641;Name=lod=539 NA 14q11.2 NA Name=CEBPB NA NA rs28730774 0.0014 0.0014 0.003 0.000998403 0.004 NA 0.0014 NA NA 0.004 NA NA NA 0.0052 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 0.07498 NA NA 0.007907 0.001362 NA 0.007 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037451.1;CLNDSDB=.;CLNDSDBID=. 8.6495596 795 X 35821056 35821056 T A exonic MAGEB16 NA nonsynonymous SNV MAGEB16:NM_001099921:exon2:c.T743A:p.M248K exonic ENSG00000189023 NA nonsynonymous SNV ENSG00000189023:ENST00000399985:exon2:c.T743A:p.M248K,ENSG00000189023:ENST00000399988:exon2:c.T743A:p.M248K,ENSG00000189023:ENST00000399989:exon2:c.T743A:p.M248K,ENSG00000189023:ENST00000399987:exon3:c.T743A:p.M248K,ENSG00000189023:ENST00000399992:exon3:c.T839A:p.M280K NA NA Xp21.1 NA NA NA NA rs4829391 0.54 0.54 NA NA NA NA NA NA NA 0.48 0.65 0.53 0.51 0.5722 0.65 1 T 0.001 B 0.0 B 0.374 N 1.000 P -3.54 N 3.88 T -0.952 T 0.000 T 0.053 -1.583 0.014 3.06 0.445 1.366 5.012 -1.58333 NA 1 0.111674 0.105347 NA NA NA 8.6494594 795 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 795 16 3063585 3063585 G A exonic CLDN9 NA synonymous SNV CLDN9:NM_020982:exon1:c.G222A:p.P74P exonic ENSG00000213937 NA synonymous SNV ENSG00000213937:ENST00000445369:exon1:c.G222A:p.P74P Score=475;Name=lod=114 NA 16p13.3 NA Name=Max,c-Myc,Ini1,CTCF Name=6 NA rs151129127 0.0046 0.0046 0.001 0.00479233 0.0089 0.001 0.0058 0.0008 0.0092 0.01 0.0017 0.01 NA 0.0065 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 -0.665781 NA NA 0.004302 0.001365 NA NA NA 8.6469646 795 4 149357475 149357475 C T exonic NR3C2 NA nonsynonymous SNV NR3C2:NM_000901:exon2:c.G538A:p.V180I,NR3C2:NM_001166104:exon2:c.G538A:p.V180I exonic ENSG00000151623 NA nonsynonymous SNV ENSG00000151623:ENST00000511528:exon1:c.G538A:p.V180I,ENSG00000151623:ENST00000342437:exon2:c.G538A:p.V180I,ENSG00000151623:ENST00000344721:exon2:c.G538A:p.V180I,ENSG00000151623:ENST00000355292:exon2:c.G538A:p.V180I,ENSG00000151623:ENST00000358102:exon2:c.G538A:p.V180I,ENSG00000151623:ENST00000512865:exon2:c.G538A:p.V180I NA NA 4q31.23 Score=892;Name=V$AHRARNT_01 NA NA NA rs5522 0.88 0.88 0.883 0.891973 0.9155 0.8542 0.8271 0.9274 0.9049 0.91 0.83 0.88 0.92 0.8812 0.92 . . 0.001 B 0.001 B 0.958 N 1.000 P . . -2.04 D -1.005 T 0.000 T 0.025 -2.899 0.001 -3.8 -1.398 -0.380 7.615 -2.898969 NA 1 0.890233 0.911938 NA 0.848 NA 8.6464004 795 1 2535613 2535613 C A exonic MMEL1 NA synonymous SNV MMEL1:NM_033467:exon10:c.G924T:p.V308V exonic ENSG00000142606 NA synonymous SNV ENSG00000142606:ENST00000504800:exon9:c.G924T:p.V308V,ENSG00000142606:ENST00000288709:exon10:c.G897T:p.V299V,ENSG00000142606:ENST00000378412:exon10:c.G924T:p.V308V Score=445;Name=lod=86 NA 1p36.32 Score=897;Name=V$MYOD_01 NA NA NA rs4648562 0.43 0.43 0.422 0.496006 0.3121 0.5288 0.4481 0.6112 0.5297 0.31 0.47 0.41 0.59 0.3908 0.59 . . . . . . . . 0.000 P . . . . . . . . . -0.946 0.35 3.52 0.930 0.369 2.464 -0.945647 NA NA 0.317632 0.571493 NA 0.464 NA 8.6461346 796 10 129845924 129845924 G A exonic PTPRE NA synonymous SNV PTPRE:NM_130435:exon1:c.G12A:p.R4R exonic ENSG00000132334 NA synonymous SNV ENSG00000132334:ENST00000306042:exon1:c.G12A:p.R4R,ENSG00000132334:ENST00000479896:exon1:c.G12A:p.R4R,ENSG00000132334:ENST00000495530:exon1:c.G12A:p.R4R Score=489;Name=lod=129 NA 10q26.2 NA Name=TCF4,PAX5-C20,Pol2(b),PU.1,ZNF263,Pol2,TCF12,CTCF,TAF1,Pol2-4H8,KAP1 Name=74 NA rs41282856 0.0032 0.0032 0 0.00339457 0.007 NA 0.0101 0.0008 0.002 0.0026 NA 0.01 0.002 0.0063 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 0.129746 NA NA 0.008488 0.001589 NA 0.007 NA 8.6448786 796 5 168212951 168212951 A G exonic SLIT3 NA nonsynonymous SNV SLIT3:NM_001271946:exon12:c.T1112C:p.V371A,SLIT3:NM_003062:exon12:c.T1112C:p.V371A exonic ENSG00000184347 NA nonsynonymous SNV ENSG00000184347:ENST00000332966:exon12:c.T1112C:p.V371A,ENSG00000184347:ENST00000404867:exon12:c.T1112C:p.V371A,ENSG00000184347:ENST00000519560:exon12:c.T1112C:p.V371A Score=597;Name=lod=357 NA 5q34 NA NA NA NA rs891921 0.94 0.94 0.95 0.930312 0.8797 0.9593 0.9438 0.9924 0.8589 0.89 0.97 0.94 0.99 0.9062 0.99 0.06 T 0.0 B 0.001 B 0.005 N 1.000 P -0.61 N 1.92 T -0.948 T 0.000 T 0.122 3.412 17.53 6.04 1.600 6.261 14.585 3.411877 3.411877 0.02 0.903256 0.977758 NA 0.935 NA 8.6441774 796 19 15789098 15789098 A G exonic CYP4F12 NA nonsynonymous SNV CYP4F12:NM_023944:exon3:c.A226G:p.N76D exonic ENSG00000186204 NA nonsynonymous SNV ENSG00000186204:ENST00000324632:exon2:c.A226G:p.N76D,ENSG00000186204:ENST00000551607:exon2:c.A85G:p.N29D,ENSG00000186204:ENST00000552048:exon2:c.A205G:p.N69D,ENSG00000186204:ENST00000517734:exon3:c.A226G:p.N76D,ENSG00000186204:ENST00000547332:exon3:c.A226G:p.N76D,ENSG00000186204:ENST00000548435:exon3:c.A226G:p.N76D,ENSG00000186204:ENST00000550308:exon3:c.A226G:p.N76D NA NA 19p13.12 NA NA NA NA rs609636 0.94 0.94 0.938 0.819888 0.8221 0.9692 0.8818 0.7194 0.7556 0.92 1 0.97 0.87 0.936 1 0.22 T 0.0 B 0.004 B 0.734 N 1.000 P 0.645 N -2.32 D -1.013 T 0.000 T 0.121 -0.91 0.417 -5.84 -2.298 -1.661 6.275 -0.910357 NA 0.25 0.931379 0.906557 NA 0.899 NA 8.6438544 796 2 219146803 219146803 G A exonic TMBIM1 NA nonsynonymous SNV TMBIM1:NM_022152:exon2:c.C62T:p.P21L exonic ENSG00000135926 NA nonsynonymous SNV ENSG00000135926:ENST00000425694:exon1:c.C62T:p.P21L,ENSG00000135926:ENST00000439306:exon1:c.C62T:p.P21L,ENSG00000135926:ENST00000258412:exon2:c.C62T:p.P21L,ENSG00000135926:ENST00000396809:exon2:c.C62T:p.P21L,ENSG00000135926:ENST00000418569:exon2:c.C62T:p.P21L,ENSG00000135926:ENST00000429501:exon2:c.C62T:p.P21L,ENSG00000135926:ENST00000437694:exon2:c.C62T:p.P21L,ENSG00000135926:ENST00000453776:exon2:c.C62T:p.P21L,ENSG00000135926:ENST00000413976:exon3:c.C62T:p.P21L,ENSG00000135926:ENST00000440422:exon3:c.C62T:p.P21L,ENSG00000135926:ENST00000444000:exon3:c.C62T:p.P21L,ENSG00000135926:ENST00000444183:exon3:c.C62T:p.P21L,ENSG00000135926:ENST00000444881:exon3:c.C62T:p.P21L,ENSG00000135926:ENST00000451181:exon3:c.C62T:p.P21L,ENSG00000135926:ENST00000453281:exon3:c.C62T:p.P21L,ENSG00000135926:ENST00000434015:exon4:c.C62T:p.P21L NA NA 2q35 NA NA NA NA rs2292553 0.47 0.47 0.458 0.449481 0.5835 0.6161 0.5058 0.059 0.6278 0.59 0.63 0.52 0.08 0.5587 0.63 0.61 T 0.001 B 0.0 B 0.580 N 0.968 P 2.19 M 0.85 T -0.929 T 0.000 T 0.56 0.344 5.868 2.94 0.597 3.078 6.885 0.344265 NA 0.29 0.547453 0.143117 NA 0.471 NA 8.6436804 796 18 60021667 60021667 C T exonic TNFRSF11A NA synonymous SNV TNFRSF11A:NM_001270949:exon4:c.C327T:p.P109P,TNFRSF11A:NM_001270950:exon4:c.C327T:p.P109P,TNFRSF11A:NM_001270951:exon4:c.C327T:p.P109P,TNFRSF11A:NM_003839:exon4:c.C327T:p.P109P exonic ENSG00000141655 NA synonymous SNV ENSG00000141655:ENST00000269485:exon4:c.C327T:p.P109P,ENSG00000141655:ENST00000586569:exon4:c.C327T:p.P109P Score=527;Name=lod=185 NA 18q21.33 Score=883;Name=V$AP2_Q6 NA Name=4 NA rs35003467 0.01 0.01 0.007 0.00279553 0.0109 0.001 0.0014 0.0008 NA 0.01 0.0017 0.0028 0.002 0.0066 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.947625 NA NA 0.005776 0.000948 NA NA NA 8.6433906 796 1 91782031 91782031 T C exonic HFM1 NA nonsynonymous SNV HFM1:NM_001017975:exon26:c.A2815G:p.I939V exonic ENSG00000162669 NA nonsynonymous SNV ENSG00000162669:ENST00000370424:exon22:c.A1852G:p.I618V,ENSG00000162669:ENST00000294696:exon26:c.A511G:p.I171V,ENSG00000162669:ENST00000370425:exon26:c.A2815G:p.I939V Score=631;Name=lod=490 NA 1p22.2 NA NA NA NA rs11584478 0.13 0.13 0.126 0.125 0.2346 0.005 0.1571 0.1233 0.1155 0.23 0.0035 0.17 0.11 0.1998 0.26 0.43 T 0.009 B 0.013 B 0.004 N 0.933 P -0.255 N 0.22 T -1.046 T 0.029 T 0.041 0.018 4.108 1.31 0.254 2.352 6.864 0.0182 NA 0.37 0.256055 0.139873 NA 0.21 NA 8.6428784 796 2 118771566 118771566 C A exonic CCDC93 NA synonymous SNV CCDC93:NM_019044:exon1:c.G6T:p.G2G exonic ENSG00000125633 NA synonymous SNV ENSG00000125633:ENST00000319432:exon1:c.G6T:p.G2G,ENSG00000125633:ENST00000376300:exon1:c.G6T:p.G2G Score=409;Name=lod=61 NA 2q14.1 Score=861;Name=V$NFKAPPAB50_01 Name=Sin3Ak-20,Oct-2,ZBTB7A_(SC-34508),TR4,E2F6_(H-50),POU2F2,Pol2,ELF1_(SC-631),HEY1,GABP,Pol2-4H8,NFKB,TAF1 Name=148 NA rs11545372 0.3 0.3 0.306 0.320288 0.3459 0.1409 0.2421 0.4894 0.3057 0.34 0.12 0.28 0.46 0.3494 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624973 NA NA 0.329567 0.415266 ID=COSM1129600;OCCURENCE=1(prostate) 0.29 NA 8.6417996 796 5 81549240 81549240 C A exonic ATG10 NA nonsynonymous SNV ATG10:NM_031482:exon7:c.C659A:p.P220H,ATG10:NM_001131028:exon8:c.C659A:p.P220H exonic ENSG00000152348 NA nonsynonymous SNV ENSG00000152348:ENST00000282185:exon7:c.C659A:p.P220H,ENSG00000152348:ENST00000458350:exon8:c.C659A:p.P220H NA NA 5q14.2 NA NA NA NA rs1864182 0.58 0.58 0.559 0.561901 0.5537 0.9077 0.611 0.1785 0.6973 0.58 0.93 0.57 0.21 0.5788 0.93 0 D 0.0 B 0.0 B 0.016 N 1.000 P 0 N 1.89 T -0.923 T 0.000 T 0.033 1.046 9.272 -2.66 -0.968 -0.323 0.810 1.045998 NA 0 0.559186 0.223786 NA 0.572 NA 8.6416474 796 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 796 19 22154732 22154732 T C exonic ZNF208 NA nonsynonymous SNV ZNF208:NM_007153:exon4:c.A3104G:p.D1035G exonic ENSG00000160321 NA nonsynonymous SNV ENSG00000160321:ENST00000397126:exon4:c.A3104G:p.D1035G Score=278;Name=lod=18 NA 19p12 NA Name=ZNF274 NA NA rs8108957 0.6 0.6 0.615 0.573083 0.5716 0.6935 0.6326 0.6233 0.3405 0.56 0.68 0.54 0.62 0.5556 0.68 1 T 0.001 B 0.0 B . . 1.000 P . . 3.19 T -0.977 T 0.000 T 0.111 -1.505 0.017 -2.26 -0.404 -0.551 4.859 -1.504888 NA 1 0.564717 0.634517 NA 0.594 NA 8.6414164 796 20 33874720 33874720 C T exonic FAM83C NA nonsynonymous SNV FAM83C:NM_178468:exon4:c.G1862A:p.R621Q exonic ENSG00000125998 NA nonsynonymous SNV ENSG00000125998:ENST00000374408:exon4:c.G1862A:p.R621Q Score=243;Name=lod=13 NA 20q11.22 NA NA NA NA rs2425049 0.32 0.32 0.337 0.377796 0.2028 0.2232 0.1744 0.7474 0.362 0.21 0.19 0.22 0.72 0.2717 0.72 0.53 T 0.0 B 0.0 B 0.544 N 1.000 P -1.485 N 3.42 T -1.069 T 0.000 T 0.053 -2.132 0.005 2.85 0.332 0.401 5.202 -2.132108 NA 1 0.217558 0.629369 NA 0.391 NA 8.6412754 796 10 120354109 120354109 G T exonic PRLHR NA synonymous SNV PRLHR:NM_004248:exon2:c.C648A:p.G216G exonic ENSG00000119973 NA synonymous SNV ENSG00000119973:ENST00000369169:exon1:c.C648A:p.G216G,ENSG00000119973:ENST00000239032:exon2:c.C648A:p.G216G NA NA 10q26.11 Score=786;Name=V$PPARG_03 Name=CTCF_(SC-5916),CTCF_(C-20),ATF3,USF-1,CTCF,TCF12,TAF7_(SQ-8),NANOG_(SC-33759),CtBP2,Rad21,Max,NRSF Name=78 NA rs8192521 0.01 0.01 0.004 0.00219649 0.0099 NA 0.0014 NA NA 0.01 NA NA NA 0.0086 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 -1.481659 NA NA 0.007085 0.000462 NA NA NA 8.6410816 796 17 79612397 79612397 A G exonic TSPAN10 NA unknown UNKNOWN exonic ENSG00000182612 NA nonsynonymous SNV ENSG00000182612:ENST00000328585:exon2:c.A416G:p.Y139C Score=407;Name=lod=60 NA 17q25.3 NA NA NA NA rs6420484 0.81 0.81 0.811 0.844649 0.6431 0.997 0.7781 0.947 0.8037 0.63 1 0.75 0.94 0.7303 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P . . -0.78 T -0.927 T 0.000 T 0.161 -0.964 0.317 4.15 0.980 4.684 12.123 -0.964059 NA 1 0.652625 0.892383 ID=COSM1564129;OCCURENCE=1(large_intestine) 0.739 NA 8.6406417 796 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=Eosinophil counts,Type 1 diabetes,Beta-2 microglubulin plasma levels,Platelet counts,Rheumatoid arthritis,Red blood cell traits,Systolic blood pressure,Hypothyroidism,Coronary heart disease,Type 1 diabetes autoantibodies,Diastolic blood pressure 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 796 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 796 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 796 8 145639726 145639726 T C exonic SLC39A4 NA nonsynonymous SNV SLC39A4:NM_017767:exon5:c.A994G:p.T332A,SLC39A4:NM_130849:exon6:c.A1069G:p.T357A exonic ENSG00000147804 NA nonsynonymous SNV ENSG00000147804:ENST00000276833:exon5:c.A994G:p.T332A,ENSG00000147804:ENST00000301305:exon6:c.A1069G:p.T357A Score=340;Name=lod=32 NA 8q24.3 NA NA Name=4 NA rs2272662 0.42 0.42 0.354 0.39357 0.5686 0.4861 0.4669 0.0711 0.502 0.58 0.5 0.45 0.08 0.5491 0.58 0.15 T 0.139 B 0.088 B 0.173 N 0.998 P 0.86 L 0.88 T -0.943 T 0.000 T 0.069 0.924 8.761 -0.978 -0.019 1.314 3.810 0.923532 NA 0.3 0.576753 0.146831 ID=COSM1132811;OCCURENCE=1(prostate) 0.413 NA 8.6388804 796 1 233122127 233122127 C T exonic PCNXL2 NA nonsynonymous SNV PCNXL2:NM_014801:exon33:c.G5951A:p.R1984Q exonic ENSG00000135749 NA nonsynonymous SNV ENSG00000135749:ENST00000344698:exon10:c.G1907A:p.R636Q,ENSG00000135749:ENST00000258229:exon33:c.G5951A:p.R1984Q Score=378;Name=lod=46 NA 1q42.2 NA NA NA NA rs41309639 0.2 0.2 0.21 0.172324 0.2008 0.1667 0.1254 0.2163 0.1227 0.21 0.2 0.15 0.22 0.2576 0.24 1 T 0.013 B 0.005 B 0.006 N 0.000 P 0.255 N 3.33 T -0.956 T 0.000 T 0.052 -0.563 1.46 1.57 0.318 1.388 3.177 -0.562604 NA 0.41 0.236453 0.229736 ID=COSM425603;OCCURENCE=2(breast) 0.174 NA 8.6384804 796 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 796 11 68682402 68682402 A G exonic IGHMBP2 NA nonsynonymous SNV IGHMBP2:NM_002180:exon6:c.A823G:p.I275V exonic ENSG00000132740 NA nonsynonymous SNV ENSG00000132740:ENST00000255078:exon6:c.A823G:p.I275V Score=498;Name=lod=141 NA 11q13.3 NA NA NA NA rs10896380 0.16 0.16 0.135 0.119808 0.2674 0.0149 0.1888 0.1074 0.044 0.26 0.02 0.2 0.12 0.1819 0.26 1 T 0.003 B 0.014 B 0.002 N 0.000 P -0.475 N -1.45 T -1.092 T 0.000 T 0.063 0.344 5.864 0.050 -0.090 1.576 3.425 0.343588 NA 1 0.247671 0.123864 ID=COSM1178425;OCCURENCE=1(prostate) 0.261 NA 8.6363624 796 1 91859801 91859801 A G exonic HFM1 NA nonsynonymous SNV HFM1:NM_001017975:exon4:c.T343C:p.S115P exonic ENSG00000162669 NA nonsynonymous SNV ENSG00000162669:ENST00000427444:exon3:c.T217C:p.S73P,ENSG00000162669:ENST00000370425:exon4:c.T343C:p.S115P,ENSG00000162669:ENST00000455133:exon4:c.T343C:p.S115P NA NA 1p22.2 Score=809;Name=V$XBP1_01 NA NA NA rs11165778 0.14 0.14 0.15 0.136781 0.2356 0.005 0.1585 0.1649 0.1176 0.23 0.0035 0.17 0.15 0.2034 0.26 0.27 T 0.0 B 0.0 B . . 1.000 P 0.255 N 1.37 T -1.053 T 0.038 T 0.346 -0.708 0.947 -2.82 -0.377 -0.443 9.867 -0.707603 NA 0.27 0.258083 0.176123 NA 0.217 NA 8.6362504 796 2 179623758 179623758 C T exonic TTN NA nonsynonymous SNV TTN:NM_003319:exon43:c.G10118A:p.S3373N,TTN:NM_133432:exon43:c.G10118A:p.S3373N,TTN:NM_133437:exon43:c.G10118A:p.S3373N,TTN:NM_001256850:exon44:c.G10256A:p.S3419N,TTN:NM_001267550:exon44:c.G10256A:p.S3419N,TTN:NM_133378:exon44:c.G10256A:p.S3419N,TTN:NM_133379:exon44:c.G10256A:p.S3419N exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000342175:exon43:c.G10118A:p.S3373N,ENSG00000155657:ENST00000359218:exon43:c.G10118A:p.S3373N,ENSG00000155657:ENST00000460472:exon43:c.G10118A:p.S3373N,ENSG00000155657:ENST00000342992:exon44:c.G10256A:p.S3419N,ENSG00000155657:ENST00000360870:exon44:c.G10256A:p.S3419N,ENSG00000155657:ENST00000589042:exon44:c.G10256A:p.S3419N,ENSG00000155657:ENST00000591111:exon44:c.G10256A:p.S3419N NA NA 2q31.2 NA NA NA NA rs2291310 0.84 0.84 0.852 0.808906 0.9145 0.7847 0.67 0.8389 0.7832 0.92 0.78 0.77 0.86 0.8512 0.93 0 D 0.003 B 0.003 B . . 1.000 P 1.99 M -0.3 T -0.979 T 0.000 T 0.044 1.848 12.14 -3.23 -0.597 0.398 7.485 1.848383 1.848383 0.73 0.932442 0.843622 NA 0.884 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000039852.3|RCV000126048.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.6351914 797 3 122288210 122288210 G A exonic DTX3L NA nonsynonymous SNV DTX3L:NM_138287:exon3:c.G1274A:p.R425K exonic ENSG00000163840 NA nonsynonymous SNV ENSG00000163840:ENST00000296161:exon3:c.G1274A:p.R425K Score=329;Name=lod=29 NA 3q21.1 NA NA NA NA rs2332285 0.57 0.57 0.568 0.545927 0.5606 0.6597 0.5879 0.4644 0.4939 0.56 0.67 0.57 0.46 0.5667 0.67 1 T 0.0 B 0.0 B 0.001 N 0.000 P -2.075 N 1.85 T -0.933 T 0.000 T 0.021 -0.112 3.449 4.47 0.542 1.192 8.377 -0.112492 NA 1 0.571512 0.491375 NA 0.529 NA 8.6345214 797 6 110778128 110778128 T C exonic SLC22A16 NA nonsynonymous SNV SLC22A16:NM_033125:exon2:c.A146G:p.H49R exonic ENSG00000004809 NA nonsynonymous SNV ENSG00000004809:ENST00000330550:exon2:c.A140G:p.H47R,ENSG00000004809:ENST00000368919:exon2:c.A146G:p.H49R,ENSG00000004809:ENST00000424139:exon2:c.A17G:p.H6R,ENSG00000004809:ENST00000437378:exon2:c.A17G:p.H6R,ENSG00000004809:ENST00000439654:exon2:c.A146G:p.H49R,ENSG00000004809:ENST00000456137:exon2:c.A146G:p.H49R NA NA 6q21 NA NA Name=5 NA rs714368 0.31 0.31 0.306 0.313898 0.2207 0.4097 0.2406 0.3888 0.2618 0.21 0.43 0.26 0.35 0.2561 0.45 0.32 T 0.0 B 0.0 B 0.540 N 1.000 P -0.345 N -0.08 T -1.103 T 0.116 T 0.183 0.892 8.623 -3.12 -0.837 0.856 10.625 0.891879 NA 0.51 0.222907 0.363141 NA 0.319 NA 8.6336264 797 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 797 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 797 14 50799126 50799126 G C exonic CDKL1 NA nonsynonymous SNV CDKL1:NM_004196:exon8:c.C823G:p.Q275E exonic ENSG00000100490 NA nonsynonymous SNV ENSG00000100490:ENST00000395834:exon8:c.C823G:p.Q275E Score=534;Name=lod=197 NA 14q21.3 NA NA NA NA rs7161563 0.58 0.58 0.591 0.581869 0.5606 0.6181 0.5908 0.5961 0.5409 0.56 0.6 0.57 0.58 0.5754 0.6 0.61 T 0.0 B 0.001 B . . 0.000 P 0.69 N -0.09 T -0.931 T 0.000 T 0.137 -1.053 0.191 4.21 0.880 1.719 8.393 -1.053298 NA 1 0.565698 0.582388 ID=COSM147777;OCCURENCE=1(stomach),1(prostate) 0.464 NA 8.6316354 797 19 53303527 53303527 A G exonic ZNF28 NA nonsynonymous SNV ZNF28:NM_006969:exon4:c.T1571C:p.M524T exonic ENSG00000198538 NA nonsynonymous SNV ENSG00000198538:ENST00000438150:exon2:c.T1412C:p.M471T,ENSG00000198538:ENST00000360272:exon3:c.T1412C:p.M471T,ENSG00000198538:ENST00000391783:exon3:c.T1412C:p.M471T,ENSG00000198538:ENST00000414252:exon3:c.T1412C:p.M471T,ENSG00000198538:ENST00000457749:exon4:c.T1571C:p.M524T NA NA 19q13.41 NA Name=ZNF274,SETDB1 NA NA rs8107444 0.88 0.88 0.896 0.879792 0.9264 0.9107 0.7435 0.9085 0.8579 0.91 0.9 0.77 0.89 0.8716 0.91 0.07 T 0.0 B 0.0 B . . 1.000 P -0.335 N 2.4 T -1.014 T 0.000 T 0.032 -0.439 1.96 -2.11 -1.158 -2.802 0.900 -0.439136 NA 0.04 0.903837 0.881979 NA 0.92 NA 8.6314964 797 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 797 12 113348870 113348870 G A exonic OAS1 NA nonsynonymous SNV OAS1:NM_001032409:exon3:c.G484A:p.G162S,OAS1:NM_002534:exon3:c.G484A:p.G162S,OAS1:NM_016816:exon3:c.G484A:p.G162S exonic ENSG00000089127 NA nonsynonymous SNV ENSG00000089127:ENST00000202917:exon3:c.G484A:p.G162S,ENSG00000089127:ENST00000445409:exon3:c.G484A:p.G162S,ENSG00000089127:ENST00000452357:exon3:c.G484A:p.G162S,ENSG00000089127:ENST00000550689:exon3:c.G472A:p.G158S,ENSG00000089127:ENST00000551241:exon3:c.G484A:p.G162S NA NA 12q24.13 NA NA NA NA rs1131454 0.49 0.49 0.455 0.473842 0.5746 0.5913 0.6268 0.149 0.5798 0.57 0.6 0.58 0.16 0.5628 0.6 0.33 T 0.006 B 0.01 B 0.000 N 1.000 P 1.07 L 3.11 T -0.949 T 0.000 T 0.036 0.676 7.616 -5.92 -1.602 -0.338 4.839 0.675789 NA 0.39 0.566047 0.245347 NA 0.348 CLINSIG=other;CLNDBN=Diabetes_mellitus\x2c_type_1\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000015022.1;CLNDSDB=.;CLNDSDBID=. 8.6298864 797 1 159175354 159175354 G A exonic DARC NA nonsynonymous SNV DARC:NM_001122951:exon1:c.G131A:p.G44D,DARC:NM_002036:exon2:c.G125A:p.G42D exonic ENSG00000213088 NA nonsynonymous SNV ENSG00000213088:ENST00000368121:exon1:c.G131A:p.G44D,ENSG00000213088:ENST00000368122:exon2:c.G125A:p.G42D,ENSG00000213088:ENST00000435307:exon2:c.G131A:p.G44D,ENSG00000213088:ENST00000537147:exon3:c.G125A:p.G42D NA Name=Inflammatory biomarkers,Monocyte chemoattractant protein-1,Obesity-related traits,White blood cell count 1q23.2 NA Name=CTCF,CTCF_(SC-5916) NA NA rs12075 0.54 0.54 0.575 0.540535 0.6024 0.0774 0.5389 0.9811 0.3599 0.59 0.08 0.58 0.96 0.5235 0.96 1 T 0.0 B 0.0 B . . 1.000 P -0.46 N 4.47 T -0.945 T 0.004 T 0.292 -1.075 0.168 -1.07 -0.484 0.283 3.101 -1.074849 NA 1 0.577558 0.916251 NA 0.565 CLINSIG=non-pathogenic;CLNDBN=DUFFY_BLOOD_GROUP_SYSTEM\x2c_FYA/FYB_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000000005.1;CLNDSDB=.;CLNDSDBID=. 8.6298754 797 6 42666145 42666145 C T exonic PRPH2 NA nonsynonymous SNV PRPH2:NM_000322:exon3:c.G929A:p.R310K exonic ENSG00000112619 NA nonsynonymous SNV ENSG00000112619:ENST00000230381:exon3:c.G929A:p.R310K Score=557;Name=lod=244 NA 6p21.1 NA Name=CTCF_(SC-5916),CTCF NA NA rs425876 0.94 0.94 0.946 0.941294 0.8867 1 0.9164 0.9977 0.8783 0.89 1 0.9 1 0.9117 1 1 T . . . . 0.000 N 1.000 P . . 4.33 T -0.965 T 0.002 T 0.008 0.916 8.726 5.44 0.903 2.860 11.402 0.9156 NA 1 0.905349 0.980254 NA 0.964 NA 8.6295844 797 22 32439274 32439274 C T exonic SLC5A1 NA synonymous SNV SLC5A1:NM_000343:exon1:c.C6T:p.D2D exonic ENSG00000100170 NA synonymous SNV ENSG00000100170:ENST00000266088:exon1:c.C6T:p.D2D Score=376;Name=lod=45 NA 22q12.3 Score=753;Name=V$NRSF_01 Name=NRSF NA NA rs33973317 0.02 0.02 0.005 0.0139776 0.0109 NA 0.0793 NA 0.0041 0.01 NA 0.08 NA 0.0151 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 0.748733 NA NA 0.011395 0.004541 NA 0.058 NA 8.6292716 797 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$FAC1_01 NA NA NA rs10985704 0.68 0.68 0.688 0.665136 0.5477 0.9792 0.6225 0.5991 0.5818 0.53 0.99 0.63 0.6 0.5965 0.99 0.29 T 0.0 B 0.0 B 0.065 N 1.000 P -1.405 N 7.42 T -0.877 T 0.000 T 0.064 0.988 9.033 3.48 0.618 -0.663 12.513 0.987675 NA 0.22 0.560349 0.588289 NA 0.514 NA 8.6287844 797 22 31011610 31011610 G C exonic TCN2 NA nonsynonymous SNV TCN2:NM_000355:exon6:c.G776C:p.R259P,TCN2:NM_001184726:exon6:c.G695C:p.R232P exonic ENSG00000185339 NA nonsynonymous SNV ENSG00000185339:ENST00000215838:exon6:c.G776C:p.R259P,ENSG00000185339:ENST00000405742:exon6:c.G764C:p.R255P,ENSG00000185339:ENST00000407817:exon6:c.G695C:p.R232P NA NA 22q12.2 NA NA Name=3 NA rs1801198 0.59 0.59 0.609 0.579673 0.5716 0.4444 0.6441 0.7814 0.409 0.57 0.46 0.58 0.77 0.5673 0.77 0.65 T 0.0 B 0.0 B 0.613 N 1.000 P -1.155 N 1.41 T -0.953 T 0.000 T 0.132 -0.931 0.376 4.13 0.766 0.146 13.246 -0.931342 NA 0.91 0.565698 0.76532 NA 0.681 CLINSIG=non-pathogenic;CLNDBN=TCN2_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000000117.1;CLNDSDB=.;CLNDSDBID=. 8.6287354 797 15 90611521 90611521 C T exonic ZNF710 NA synonymous SNV ZNF710:NM_198526:exon2:c.C1152T:p.C384C exonic ENSG00000140548 NA synonymous SNV ENSG00000140548:ENST00000558883:exon1:c.C276T:p.C92C,ENSG00000140548:ENST00000268154:exon2:c.C1152T:p.C384C Score=668;Name=lod=692 NA 15q26.1 Score=754;Name=V$HEN1_02 NA NA Score=77;Name=850554_0_-_77 rs147080007 0.01 0.01 0.004 0.00698882 0.0129 NA 0.0058 0.0023 0.0153 0.02 NA 0.01 0.0041 0.0121 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 0.055469 NA NA 0.013769 0.002731 NA NA NA 8.6278976 797 5 82837631 82837631 G T exonic VCAN NA nonsynonymous SNV VCAN:NM_001164097:exon7:c.G5848T:p.D1950Y,VCAN:NM_004385:exon8:c.G8809T:p.D2937Y exonic ENSG00000038427 NA nonsynonymous SNV ENSG00000038427:ENST00000343200:exon7:c.G5848T:p.D1950Y,ENSG00000038427:ENST00000265077:exon8:c.G8809T:p.D2937Y NA NA 5q14.3 NA NA NA NA rs160277 0.38 0.38 0.391 0.360623 0.4254 0.3234 0.4597 0.357 0.2669 0.42 0.35 0.46 0.29 0.3812 0.46 0.04 D 0.987 D 0.706 P 0.904 N 1.000 P 0.895 L 2.22 T -0.917 T 0.000 T 0.067 2.079 12.91 0.819 0.540 0.638 2.397 2.079124 2.079124 0.01 0.399186 0.368815 NA 0.297 NA 8.6275474 797 5 167858434 167858434 T C exonic WWC1 NA synonymous SNV WWC1:NM_001161661:exon15:c.T2265C:p.H755H,WWC1:NM_001161662:exon15:c.T2265C:p.H755H,WWC1:NM_015238:exon15:c.T2265C:p.H755H exonic ENSG00000113645 NA synonymous SNV ENSG00000113645:ENST00000524038:exon2:c.T243C:p.H81H,ENSG00000113645:ENST00000265293:exon15:c.T2265C:p.H755H,ENSG00000113645:ENST00000521089:exon15:c.T2265C:p.H755H NA NA 5q34 NA NA NA NA rs3822658 0.02 0.02 0.008 0.0167732 0.0179 0.0556 0.0014 NA 0.0092 0.02 0.04 NA NA 0.0146 0.04 . . . . . . . . 1.000 N . . . . -1.029 T 0.015 T . 0.282 5.524 -7.21 -1.361 -0.315 5.759 0.281662 NA NA 0.007674 0.001362 NA NA NA 8.6264926 797 22 36597744 36597744 A C splicing APOL4 NM_030643:exon4:c.35+2T>G NA NA splicing ENSG00000100336 ENST00000405511:exon4:c.35+2T>G,ENST00000429038:exon3:c.35+2T>G,ENST00000332987:exon4:c.35+2T>G,ENST00000493203:exon2:c.35+2T>G,ENST00000457630:exon4:c.35+2T>G,ENST00000419360:exon4:c.35+2T>G,ENST00000449084:exon4:c.35+2T>G,ENST00000397275:exon4:c.35+2T>G,ENST00000328429:exon4:c.35+2T>G,ENST00000436763:exon4:c.35+2T>G NA NA NA NA 22q12.3 NA Name=HEY1,Pol2 NA NA rs9610445 0.13 0.13 0.139 0.118011 0.1441 0.0645 0.0836 0.1967 0.0644 0.14 0.06 0.09 0.23 0.1266 0.23 . . . . . . . . 0.997 P . . . . . . . . . -0.809 0.654 -1.67 -2.120 -3.874 2.488 -0.808557 NA NA 0.103109 0.161941 NA 0.174 NA 8.626191 797 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 797 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 797 1 109745618 109745618 T C exonic KIAA1324 NA nonsynonymous SNV KIAA1324:NM_001267049:exon14:c.T1976C:p.L659P,KIAA1324:NM_001267048:exon20:c.T2765C:p.L922P,KIAA1324:NM_020775:exon22:c.T3026C:p.L1009P exonic ENSG00000116299 NA nonsynonymous SNV ENSG00000116299:ENST00000529753:exon20:c.T2765C:p.L922P,ENSG00000116299:ENST00000369939:exon22:c.T3026C:p.L1009P Score=545;Name=lod=218 NA 1p13.3 NA NA NA NA rs1052878 0.88 0.88 0.863 0.890375 0.8996 0.9593 0.9049 0.7761 0.954 0.9 0.96 0.9 0.76 0.9056 0.96 0.19 T 0.0 B 0.0 B 0.044 N 0.557 P 0 N 2.73 T -0.965 T 0.006 T 0.128 1.066 9.355 4.26 1.528 1.266 5.679 1.066439 NA 0.23 0.902907 0.755334 NA 0.928 NA 8.6252264 798 3 194080983 194080983 C T exonic LRRC15 NA nonsynonymous SNV LRRC15:NM_130830:exon2:c.G790A:p.V264I,LRRC15:NM_001135057:exon3:c.G808A:p.V270I exonic ENSG00000172061 NA nonsynonymous SNV ENSG00000172061:ENST00000347624:exon2:c.G790A:p.V264I,ENSG00000172061:ENST00000439944:exon2:c.G808A:p.V270I,ENSG00000172061:ENST00000428839:exon3:c.G808A:p.V270I Score=497;Name=lod=140 NA 3q29 NA NA NA NA rs13060627 0.18 0.18 0.2 0.157548 0.2406 0.0685 0.1412 0.1929 0.1278 0.25 0.08 0.15 0.21 0.2147 0.26 0.64 T 0.001 B 0.001 B . . 1.000 P 0.58 N 1.86 T -0.956 T 0.000 T 0.045 -1.229 0.059 3.91 0.913 0.776 6.894 -1.229135 NA 1 0.257209 0.198593 NA 0.239 NA 8.6208244 798 19 56047448 56047448 A G exonic SBK2 NA nonsynonymous SNV SBK2:NM_001101401:exon2:c.T214C:p.C72R exonic ENSG00000187550 NA nonsynonymous SNV ENSG00000187550:ENST00000344158:exon1:c.T214C:p.C72R,ENSG00000187550:ENST00000413299:exon2:c.T214C:p.C72R Score=467;Name=lod=105 NA 19q13.42 NA NA NA NA rs310453 0.89 0.89 0.922 0.917931 0.9085 0.8472 0.9222 0.9697 0.9274 0.9 0.82 0.92 0.94 0.902 0.96 0.32 T 0.0 B 0.0 B 0.008 N 0.006 P 0.955 L 0.84 T -1.009 T 0.000 T 0.064 0.554 6.995 4.44 1.014 1.945 7.419 0.553706 NA 1 0.902299 0.958153 NA 0.92 NA 8.6205344 798 2 47739551 47739551 A G intergenic MSH2,KCNK12 dist=29184;dist=8364 NA NA exonic ENSG00000095002 NA nonsynonymous SNV ENSG00000095002:ENST00000406134:exon16:c.A2744G:p.Q915R NA NA 2p21 NA NA NA NA rs2303424 0.5 0.5 0.501 0.527955 0.3936 0.6756 0.379 0.6619 0.4387 0.4 0.6 0.36 0.65 0.4579 0.65 0.27 T 0.0 B 0.0 B . . 1.000 P . . -2.79 D -0.971 T 0.000 T 0.047 0.632 7.396 -3.02 -1.225 0.319 3.848 0.631693 NA 0.09 0.361627 0.582763 NA 0.449 CLINSIG=non-pathogenic|untested;CLNDBN=not_provided|not_specified;CLNREVSTAT=single|not;CLNACC=RCV000034801.1|RCV000122427.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.6202064 798 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 798 7 34009946 34009946 C T exonic BMPER NA synonymous SNV BMPER:NM_133468:exon6:c.C408T:p.G136G exonic ENSG00000164619 NA nonsynonymous SNV ENSG00000164619:ENST00000436222:exon4:c.C308T:p.A103V Score=409;Name=lod=61 NA 7p14.3 NA NA NA NA rs10265207 0.43 0.43 0.426 0.428115 0.4682 0.3929 0.4121 0.3601 0.5266 0.49 0.41 0.44 0.34 0.4491 0.49 0 D . . . . . . 0.000 P . . . . -0.927 T 0.000 T . 1.952 12.48 -1.49 -0.153 -1.005 5.300 1.951693 1.951693 0 0.465349 0.386518 NA 0.543 NA 8.617351 798 6 33256471 33256471 T C exonic WDR46 NA nonsynonymous SNV WDR46:NM_001164267:exon3:c.A118G:p.T40A,WDR46:NM_005452:exon3:c.A280G:p.T94A exonic ENSG00000227057 NA nonsynonymous SNV ENSG00000227057:ENST00000444176:exon2:c.A85G:p.T29A,ENSG00000227057:ENST00000374617:exon3:c.A280G:p.T94A Score=446;Name=lod=87 NA 6p21.32 NA NA NA NA rs3130257 0.94 0.94 0.955 0.965655 0.8996 0.997 0.9222 0.9947 0.9928 0.89 1 0.92 0.99 0.9257 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.845 N 2.26 T -0.929 T 0.004 T 0.12 -0.397 2.139 4.87 1.304 1.183 9.211 -0.397175 NA 1 0.891395 0.975261 NA 0.964 NA 8.6166384 799 X 108708516 108708516 C T exonic GUCY2F NA nonsynonymous SNV GUCY2F:NM_001522:exon3:c.G887A:p.R296Q exonic ENSG00000101890 NA nonsynonymous SNV ENSG00000101890:ENST00000218006:exon3:c.G887A:p.R296Q Score=593;Name=lod=344 NA Xq23 Score=843;Name=V$GATA1_02 NA NA NA rs502209 0.92 0.92 0.93243 NA NA NA NA NA NA 0.83 1 0.92 0.98 0.8868 1 0.65 T 0.0 B 0.0 B 0.036 N 1.000 P -0.345 N -0.84 T -0.969 T 0.000 T 0.022 0.564 7.047 3.94 0.669 0.199 7.049 0.563628 NA 0.3 0.832045 0.974967 NA 0.725 NA 8.6144884 799 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 799 14 64498037 64498037 G A exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon45:c.G7183A:p.A2395T,SYNE2:NM_182914:exon45:c.G7183A:p.A2395T exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000554584:exon44:c.G7183A:p.A2395T,ENSG00000054654:ENST00000344113:exon45:c.G7183A:p.A2395T,ENSG00000054654:ENST00000358025:exon45:c.G7183A:p.A2395T NA NA 14q23.2 NA NA NA NA rs4027405 0.86 0.86 0.852 0.83726 0.9056 0.8522 0.9035 0.7557 0.8149 0.9 0.89 0.9 0.76 0.8924 0.92 0.53 T 0.009 B 0.01 B 0.056 N 1.000 P 0 N 0.7 T -0.995 T 0.000 T 0.038 1.133 9.617 3.21 1.265 1.817 7.078 1.132685 NA 0.53 0.922733 0.782191 NA 0.862 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118551.1;CLNDSDB=.;CLNDSDBID=. 8.6126004 799 8 145057868 145057868 A G exonic PARP10 NA nonsynonymous SNV PARP10:NM_032789:exon8:c.T1889C:p.V630A exonic ENSG00000178685 NA nonsynonymous SNV ENSG00000178685:ENST00000525773:exon7:c.T1925C:p.V642A,ENSG00000178685:ENST00000313028:exon8:c.T1889C:p.V630A,ENSG00000178685:ENST00000524918:exon8:c.T1862C:p.V621A,ENSG00000178685:ENST00000527262:exon8:c.T1889C:p.V630A NA NA 8q24.3 NA NA NA NA rs11544989 0.54 0.54 0.563 0.591254 0.5755 0.1994 0.4914 0.9198 0.638 0.58 0.19 0.52 0.9 0.5709 0.9 0.36 T 0.0 B 0.0 B 0.485 N 1.000 P -0.205 N 2.94 T -1.032 T 0.000 T 0.042 -1.17 0.089 -6.93 -1.560 -3.615 0.563 -1.169639 NA 0.42 0.576184 0.877109 NA 0.667 NA 8.6107494 799 7 138602432 138602432 G C exonic KIAA1549 NA nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.C1940G:p.S647C,KIAA1549:NM_020910:exon2:c.C1940G:p.S647C exonic ENSG00000122778 NA nonsynonymous SNV ENSG00000122778:ENST00000242365:exon1:c.C1790G:p.S597C,ENSG00000122778:ENST00000422774:exon2:c.C1940G:p.S647C,ENSG00000122778:ENST00000440172:exon2:c.C1940G:p.S647C NA NA 7q34 NA NA NA NA rs61734132 0.03 0.03 0.029 0.053115 0.0706 NA 0.0245 0.0257 0.1472 0.07 NA 0.03 0.01 0.0839 0.07 0.06 T 0.995 D 0.847 P 0.707 N 1.000 N 0.695 N 1.73 T -1.070 T 0.007 T 0.079 2.35 13.82 1.11 0.427 0.901 7.318 2.350317 2.350317 0.01 0.069024 0.028963 NA 0.007 NA 8.6098094 799 9 133779448 133779448 A G UTR3 FIBCD1 NM_032843:c.*3T>C,NM_001145106:c.*3T>C NA NA exonic ENSG00000130720 NA nonsynonymous SNV ENSG00000130720:ENST00000253018:exon6:c.T484C:p.W162R NA NA 9q34.12 NA NA NA NA rs11792889 0.22 0.22 0.208 0.244808 0.2237 0.1865 0.2104 0.2927 0.2863 0.22 0.17 0.22 0.29 0.264 0.29 0.15 T . . . . . . 1.000 P . . 1.23 T -1.006 T 0.000 T 0.175 -0.018 3.921 -8.11 -1.812 -1.731 1.600 -0.018072 NA 0.58 0.237314 0.264438 NA 0.196 NA 8.6083194 799 6 170176648 170176648 A G exonic C6orf70 NA nonsynonymous SNV C6orf70:NM_018341:exon16:c.A1618G:p.S540G exonic ENSG00000130023 NA nonsynonymous SNV ENSG00000130023:ENST00000392095:exon15:c.A1240G:p.S414G,ENSG00000130023:ENST00000588451:exon15:c.A1210G:p.S404G,ENSG00000130023:ENST00000366773:exon16:c.A1618G:p.S540G NA NA 6q27 NA NA NA NA rs4716346 0.26 0.26 0.316 0.34365 0.2366 0.3304 0.304 0.497 0.2883 0.19 0.28 0.25 0.36 0.2662 0.48 0.4 T 0.0 B 0.0 B 0.337 N 1.000 P 1.475 L 0.84 T -1.061 T 0.029 T 0.04 1.863 12.19 -6.82 -1.767 -0.628 5.928 1.863197 1.863197 0.22 0.222442 0.479573 NA NA NA 8.6080914 799 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 799 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 799 1 158549492 158549492 C T exonic OR10X1 NA stopgain OR10X1:NM_001004477:exon1:c.G198A:p.W66X exonic ENSG00000186400 NA stopgain ENSG00000186400:ENST00000368150:exon1:c.G198A:p.W66X NA NA 1q23.1 NA NA NA NA rs863362 0.53 0.53 0.533 0.502396 0.4732 0.5853 0.4135 0.5741 0.4131 0.49 0.62 0.42 0.59 0.4769 0.62 0.25 T . . . . 0.008 N 0.000 P . . . . . . . . . 2.598 14.65 4.18 2.648 -0.039 13.070 2.598003 2.598003 0.03 0.444884 0.567181 NA 0.558 NA 8.605016 800 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 800 18 74587458 74587458 G A exonic ZNF236 NA synonymous SNV ZNF236:NM_007345:exon6:c.G672A:p.P224P exonic ENSG00000130856 NA synonymous SNV ENSG00000130856:ENST00000579322:exon5:c.G672A:p.P224P,ENSG00000130856:ENST00000253159:exon6:c.G672A:p.P224P,ENSG00000130856:ENST00000320610:exon6:c.G678A:p.P226P,ENSG00000130856:ENST00000543926:exon6:c.G672A:p.P224P Score=355;Name=lod=37 NA 18q23 NA Name=CTCF_(C-20),CTCF_(SC-5916),GTF2B,CTCF,USF-1,SMC3_(ab9263),TBP,RXRA,Rad21 Name=108 NA rs2276210 0.02 0.02 0.024 0.0167732 0.0258 0.0228 0.0245 0.0008 0.0174 0.02 0.03 0.02 0.002 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 -1.454936 NA NA 0.018155 0.003652 NA 0.014 NA 8.6032116 800 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 800 X 19482476 19482476 C T exonic MAP3K15 NA nonsynonymous SNV MAP3K15:NM_001001671:exon4:c.G574A:p.A192T exonic ENSG00000180815 NA nonsynonymous SNV ENSG00000180815:ENST00000469203:exon2:c.G70A:p.A24T,ENSG00000180815:ENST00000338883:exon4:c.G574A:p.A192T NA NA Xp22.12 Score=838;Name=V$GRE_C NA NA NA rs5909299 0.72 0.72 0.69078 NA NA NA NA NA NA 0.91 0.89 0.83 0.16 0.8444 0.91 0.1 T . . . . 0.004 N 1.000 P -0.345 N 3.0 T -1.141 T 0.000 T 0.242 1.438 10.75 3.64 0.573 1.610 11.769 1.437515 1.437515 0.31 0.886686 0.240959 NA 0.5 NA 8.6022474 800 20 44596207 44596207 C G exonic ZNF335 NA nonsynonymous SNV ZNF335:NM_022095:exon6:c.G881C:p.S294T exonic ENSG00000198026 NA nonsynonymous SNV ENSG00000198026:ENST00000426788:exon3:c.G416C:p.S139T,ENSG00000198026:ENST00000322927:exon6:c.G881C:p.S294T NA NA 20q13.12 NA NA NA NA rs6032606 0.78 0.78 0.798 0.777756 0.9354 0.5486 0.6758 0.8767 0.7904 0.93 0.54 0.77 0.85 0.8493 0.95 1 T 0.0 B 0.0 B 0.841 N 1.000 P 0.205 N 3.26 T -0.943 T 0.000 T 0.021 -0.196 3.049 4.87 1.286 1.968 14.562 -0.195879 NA 1 0.946512 0.881525 NA 0.855 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118927.2;CLNDSDB=.;CLNDSDBID=. 8.6021214 800 2 113676381 113676381 G A exonic IL37 NA nonsynonymous SNV IL37:NM_173203:exon3:c.G469A:p.D157N,IL37:NM_173202:exon4:c.G589A:p.D197N,IL37:NM_173204:exon4:c.G532A:p.D178N,IL37:NM_173205:exon4:c.G574A:p.D192N,IL37:NM_014439:exon5:c.G652A:p.D218N exonic ENSG00000125571 NA nonsynonymous SNV ENSG00000125571:ENST00000349806:exon3:c.G469A:p.D157N,ENSG00000125571:ENST00000311328:exon4:c.G574A:p.D192N,ENSG00000125571:ENST00000352179:exon4:c.G589A:p.D197N,ENSG00000125571:ENST00000353225:exon4:c.G532A:p.D178N,ENSG00000125571:ENST00000263326:exon5:c.G652A:p.D218N NA NA 2q13 NA NA NA NA rs2723192 0.08 0.08 0.074 0.0758786 0.0795 0.001 0.0591 0.174 0.0286 0.07 0.0017 0.07 0.16 0.0719 0.17 0.11 T 0.964 D 0.517 P 0.340 N 1.000 P 0.69 N 2.63 T -1.048 T 0.000 T 0.015 1.827 12.07 1.2 0.322 0.043 5.076 1.826524 1.826524 0.15 0.080233 0.165683 NA 0.123 NA 8.6017004 800 2 113674709 113674709 C G exonic IL37 NA nonsynonymous SNV IL37:NM_173202:exon2:c.C86G:p.P29R,IL37:NM_173205:exon2:c.C71G:p.P24R,IL37:NM_014439:exon3:c.C149G:p.P50R exonic ENSG00000125571 NA nonsynonymous SNV ENSG00000125571:ENST00000311328:exon2:c.C71G:p.P24R,ENSG00000125571:ENST00000352179:exon2:c.C86G:p.P29R,ENSG00000125571:ENST00000263326:exon3:c.C149G:p.P50R NA NA 2q13 NA NA NA NA rs2708943 0.08 0.08 0.065 0.0760783 0.0805 0.001 0.0591 0.174 0.0286 0.07 0.0017 0.07 0.16 0.0712 0.17 0.23 T 0.964 D 0.543 P . . 1.000 P 1.845 L 0.52 T -1.104 T 0.001 T 0.19 1.899 12.31 0.99 0.266 -0.147 4.875 1.899428 1.899428 0 0.080233 0.165683 NA 0.123 NA 8.6014004 800 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$ARNT_01 NA Name=2 NA rs3765083 0.56 0.56 0.584 0.559305 0.6083 0.372 0.5331 0.7247 0.4969 0.61 0.36 0.59 0.72 0.5606 0.72 0.91 T 0.001 B 0.004 B 0.001 N 0.988 P 0.805 L 0.36 T -0.955 T 0.000 T 0.163 0.164 4.884 -2.1 -0.261 -0.188 6.853 0.164326 NA 0.39 0.56314 0.667045 NA 0.529 NA 8.6012934 800 1 91781413 91781413 T G exonic HFM1 NA synonymous SNV HFM1:NM_001017975:exon28:c.A3099C:p.I1033I exonic ENSG00000162669 NA synonymous SNV ENSG00000162669:ENST00000370424:exon24:c.A2136C:p.I712I,ENSG00000162669:ENST00000294696:exon28:c.A795C:p.I265I,ENSG00000162669:ENST00000370425:exon28:c.A3099C:p.I1033I Score=623;Name=lod=455 NA 1p22.2 Score=796;Name=V$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 800 X 71521867 71521867 G C exonic CITED1 NA nonsynonymous SNV CITED1:NM_001144886:exon3:c.C288G:p.H96Q,CITED1:NM_001144887:exon3:c.C288G:p.H96Q,CITED1:NM_004143:exon3:c.C288G:p.H96Q,CITED1:NM_001144885:exon4:c.C366G:p.H122Q exonic ENSG00000125931 NA nonsynonymous SNV ENSG00000125931:ENST00000246139:exon3:c.C288G:p.H96Q,ENSG00000125931:ENST00000373619:exon3:c.C288G:p.H96Q,ENSG00000125931:ENST00000417400:exon3:c.C288G:p.H96Q,ENSG00000125931:ENST00000427412:exon3:c.C366G:p.H122Q,ENSG00000125931:ENST00000445983:exon3:c.C288G:p.H96Q,ENSG00000125931:ENST00000431381:exon4:c.C366G:p.H122Q,ENSG00000125931:ENST00000453707:exon5:c.C366G:p.H122Q Score=556;Name=lod=243 NA Xq13.1 NA NA NA NA rs3012627 0.75 0.75 0.76948 NA NA NA NA NA NA 0.84 0.45 0.79 0.94 0.8534 0.97 1 T 0.0 B 0.0 B 0.000 N 0.000 P -0.875 N 0.07 T -0.952 T 0.000 T 0.266 -0.846 0.56 2.83 0.191 1.629 6.333 -0.845509 NA 1 0.879274 0.974165 NA 0.471 NA 8.6006594 800 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 800 1 248487638 248487638 A G exonic OR2M7 NA nonsynonymous SNV OR2M7:NM_001004691:exon1:c.T233C:p.V78A exonic ENSG00000177186 NA nonsynonymous SNV ENSG00000177186:ENST00000317965:exon1:c.T233C:p.V78A NA NA 1q44 NA NA NA NA rs7555310 0.77 0.77 0.745 0.800519 0.7117 0.8601 0.7651 0.77 0.8967 0.74 0.86 0.72 0.74 0.7757 0.86 0.01 D 0.969 D 0.701 P 0.164 U 1.000 P 1.915 M 3.53 T -1.077 T 0.000 T 0.084 1.833 12.09 -0.011 0.703 0.285 7.072 1.833168 1.833168 0.01 0.746512 0.776214 NA 0.71 NA 8.5994214 800 19 51535130 51535130 A G splicing KLK12 NM_019598:exon5:c.457+2T>C,NM_145894:exon5:c.457+2T>C NA NA exonic;splicing ENSG00000186474;ENSG00000186474 ENST00000319590:exon5:c.457+2T>C,ENST00000525263:exon4:c.457+2T>C,ENST00000250351:exon5:c.457+2T>C synonymous SNV ENSG00000186474:ENST00000531374:exon4:c.T459C:p.S153S Score=304;Name=lod=23 NA 19q13.41 Score=883;Name=V$NCX_01 NA NA NA rs3745540 0.52 0.52 0.483 0.534145 0.5656 0.6369 0.5591 0.357 0.6176 0.55 0.61 0.57 0.34 0.581 0.61 . . . . . . . . 0.000 P . . . . . . . . . 1.709 11.67 4.27 1.949 0.937 9.985 1.708772 1.708772 NA 0.58764 0.377273 ID=COSM440089;OCCURENCE=1(breast),1(large_intestine) 0.522 NA 8.5990933 800 6 24418348 24418348 G A exonic MRS2 NA synonymous SNV MRS2:NM_020662:exon8:c.G873A:p.E291E exonic ENSG00000124532 NA synonymous SNV ENSG00000124532:ENST00000535061:exon6:c.G723A:p.E241E,ENSG00000124532:ENST00000378353:exon8:c.G873A:p.E291E,ENSG00000124532:ENST00000378386:exon8:c.G873A:p.E291E,ENSG00000124532:ENST00000443868:exon9:c.G882A:p.E294E Score=563;Name=lod=258 NA 6p22.3 NA NA NA NA rs2793422 0.23 0.23 0.229 0.228235 0.3618 0.2272 0.2464 0.0923 0.2628 0.35 0.19 0.27 0.07 0.3185 0.39 . . . . . . . . 0.000 P . . . . -0.991 T 0.108 T . 1.238 10.03 4.3 0.910 4.113 10.671 1.23767 1.23767 NA 0.387674 0.134362 NA 0.275 NA 8.5986926 800 17 43923180 43923180 G A exonic SPPL2C NA nonsynonymous SNV SPPL2C:NM_175882:exon1:c.G908A:p.R303H exonic ENSG00000185294 NA nonsynonymous SNV ENSG00000185294:ENST00000329196:exon1:c.G908A:p.R303H NA NA 17q21.31 Score=894;Name=V$MYOD_01 NA NA NA rs242944 0.59 0.59 0.564 0.609225 0.5557 0.7986 0.6412 0.3669 0.774 0.57 0.82 0.57 0.36 0.6209 0.82 0.18 T 0.026 B 0.021 B . . 1.000 P 0.385 N 2.25 T -1.016 T 0.000 T 0.062 -0.093 3.544 -8.51 -1.677 -0.364 5.449 -0.093134 NA 0.19 0.558488 0.391058 NA 0.522 NA 8.5982454 800 10 32143044 32143044 A G exonic ARHGAP12 NA synonymous SNV ARHGAP12:NM_001270695:exon5:c.T1039C:p.L347L,ARHGAP12:NM_001270696:exon5:c.T1039C:p.L347L,ARHGAP12:NM_018287:exon5:c.T1039C:p.L347L exonic ENSG00000165322 NA synonymous SNV ENSG00000165322:ENST00000344936:exon5:c.T1039C:p.L347L,ENSG00000165322:ENST00000375250:exon5:c.T1039C:p.L347L,ENSG00000165322:ENST00000396144:exon5:c.T1039C:p.L347L Score=712;Name=lod=1046 NA 10p11.22 NA NA NA NA rs41289019 0.01 0.01 0.011 0.00878594 0.0258 NA 0.0072 0.0015 0.0112 0.03 NA 0.01 NA 0.018 0.03 . . . . . . . . 1.000 D . . . . -0.961 T 0.084 T . 1.069 9.364 -0.819 -0.399 0.506 10.592 1.068881 NA NA 0.024651 0.007036 NA 0.065 NA 8.5982156 800 1 248487768 248487768 A G exonic OR2M7 NA nonsynonymous SNV OR2M7:NM_001004691:exon1:c.T103C:p.F35L exonic ENSG00000177186 NA nonsynonymous SNV ENSG00000177186:ENST00000317965:exon1:c.T103C:p.F35L NA NA 1q44 NA NA NA NA rs7555424 0.77 0.77 0.75 0.800919 0.7137 0.8621 0.7651 0.7693 0.8957 0.74 0.86 0.72 0.74 0.7757 0.86 0.01 D 0.85 P 0.291 B 0.085 U 1.000 P 2.2 M 3.67 T -1.110 T 0.000 T 0.074 1.842 12.12 1.55 0.708 6.912 8.684 1.841956 1.841956 0.02 0.746395 0.776214 NA 0.703 NA 8.5975384 800 3 142281612 142281612 A G exonic ATR NA nonsynonymous SNV ATR:NM_001184:exon4:c.T632C:p.M211T exonic ENSG00000175054 NA nonsynonymous SNV ENSG00000175054:ENST00000350721:exon4:c.T632C:p.M211T,ENSG00000175054:ENST00000383101:exon4:c.T632C:p.M211T NA NA 3q23 NA NA NA NA rs2227928 0.62 0.62 0.644 0.597444 0.5865 0.4732 0.5058 0.8517 0.4581 0.58 0.51 0.55 0.85 0.554 0.85 1 T 0.0 B 0.0 B 0.299 N 1.000 P 0 N -0.14 T -0.930 T 0.000 T 0.018 -1.636 0.013 4.6 0.547 1.273 4.074 -1.635725 NA 0.78 0.595465 0.792783 ID=COSM149487;OCCURENCE=1(stomach) 0.558 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079600.1;CLNDSDB=.;CLNDSDBID=. 8.5973684 800 1 109369915 109369915 G T exonic AKNAD1 NA nonsynonymous SNV AKNAD1:NM_152763:exon11:c.C1848A:p.N616K exonic ENSG00000162641 NA nonsynonymous SNV ENSG00000162641:ENST00000357393:exon10:c.C969A:p.N323K,ENSG00000162641:ENST00000369994:exon10:c.C1758A:p.N586K,ENSG00000162641:ENST00000474186:exon10:c.C1638A:p.N546K,ENSG00000162641:ENST00000369995:exon11:c.C1848A:p.N616K,ENSG00000162641:ENST00000370001:exon11:c.C1848A:p.N616K NA NA 1p13.3 NA NA NA NA rs7551421 0.51 0.51 0.487 0.503195 0.5805 0.2649 0.5288 0.6331 0.4755 0.58 0.27 0.57 0.64 0.5516 0.64 1 T 0.0 B 0.0 B 0.907 N 1.000 P -1.04 N 2.52 T -0.973 T 0.002 T 0.015 -1.296 0.038 -7.42 -2.161 -1.357 2.307 -1.296348 NA 1 0.60421 0.635951 ID=COSM146571;OCCURENCE=1(stomach) 0.638 NA 8.5970234 800 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 800 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 800 22 50530501 50530501 A T exonic MOV10L1 NA nonsynonymous SNV MOV10L1:NM_001164104:exon2:c.A169T:p.M57L,MOV10L1:NM_001164105:exon2:c.A109T:p.M37L,MOV10L1:NM_018995:exon2:c.A169T:p.M57L exonic ENSG00000073146 NA nonsynonymous SNV ENSG00000073146:ENST00000262794:exon2:c.A169T:p.M57L,ENSG00000073146:ENST00000395858:exon2:c.A169T:p.M57L,ENSG00000073146:ENST00000540615:exon2:c.A109T:p.M37L,ENSG00000073146:ENST00000545383:exon3:c.A169T:p.M57L NA NA 22q13.33 Score=880;Name=V$RORA2_01 NA NA NA rs9617066 0.24 0.24 0.211 0.250599 0.2356 0.255 0.3833 0.1301 0.3303 0.23 0.31 0.33 0.12 0.2635 0.33 1 T 0.0 B 0.0 B 0.178 N 1.000 P -1.56 N -1.18 T -1.057 T 0.000 T 0.08 -0.439 1.958 -0.971 -0.198 -1.156 4.875 -0.439463 NA 0.74 0.23814 0.158647 ID=COSM149320;OCCURENCE=1(stomach) 0.188 NA 8.5960934 800 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 800 1 206634429 206634429 A G exonic SRGAP2 NA unknown UNKNOWN exonic ENSG00000163486 NA synonymous SNV ENSG00000163486:ENST00000414007:exon19:c.A2460G:p.L820L Score=516;Name=lod=167 NA 1q32.1 NA NA Name=31 NA rs17018890 0.19 0.19 0.174 0.209465 0.2406 0.0675 0.17 0.2466 0.3016 0.23 0.08 0.22 0.25 0.2363 0.26 . . . . . . . . 0.729 P . . . . -1.075 T 0.000 T . 0.57 7.081 -12.1 -2.005 -0.442 4.332 0.570271 NA NA 0.261194 0.223819 NA 0.217 NA 8.5952393 801 16 46773999 46773999 C A exonic MYLK3 NA nonsynonymous SNV MYLK3:NM_182493:exon2:c.G538T:p.V180L exonic ENSG00000140795 NA nonsynonymous SNV ENSG00000140795:ENST00000394809:exon2:c.G538T:p.V180L NA NA 16q11.2 NA Name=TAL1_(SC-12984),eGFP-GATA2,GATA-1 NA NA rs28407821 0.47 0.47 0.449 0.466054 0.5984 0.5536 0.464 0.1203 0.7086 0.62 0.55 0.49 0.11 0.5525 0.62 0.26 T 0.002 B 0.001 B 0.432 N 0.873 P 1.245 L -0.66 T -0.930 T 0.000 T 0.108 1.939 12.44 2.57 0.400 1.065 5.324 1.938748 1.938748 0 0.588372 0.198593 ID=COSM148070,COSM148071;OCCURENCE=1(stomach) 0.341 NA 8.5940614 801 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 801 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 801 10 99504595 99504595 G A exonic ZFYVE27 NA synonymous SNV ZFYVE27:NM_001174121:exon2:c.G84A:p.K28K,ZFYVE27:NM_001002261:exon3:c.G378A:p.K126K,ZFYVE27:NM_001174119:exon3:c.G282A:p.K94K,ZFYVE27:NM_001002262:exon4:c.G378A:p.K126K,ZFYVE27:NM_144588:exon4:c.G378A:p.K126K exonic ENSG00000155256 NA synonymous SNV ENSG00000155256:ENST00000370610:exon2:c.G84A:p.K28K,ENSG00000155256:ENST00000337540:exon3:c.G282A:p.K94K,ENSG00000155256:ENST00000356257:exon3:c.G378A:p.K126K,ENSG00000155256:ENST00000423811:exon3:c.G312A:p.K104K,ENSG00000155256:ENST00000359980:exon4:c.G378A:p.K126K,ENSG00000155256:ENST00000393677:exon4:c.G378A:p.K126K,ENSG00000155256:ENST00000453958:exon4:c.G378A:p.K126K Score=505;Name=lod=150 NA 10q24.2 NA Name=Pol2 NA NA rs75060573 0.01 0.01 0.009 0.0147764 0.0179 0.001 0.0101 0.0008 0.0481 0.02 NA 0.01 0.002 0.0258 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 0.540318 NA NA 0.029419 0.004312 NA 0.065 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118904.2;CLNDSDB=.;CLNDSDBID=. 8.5935476 801 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 801 13 43469211 43469211 G A exonic EPSTI1 NA synonymous SNV EPSTI1:NM_033255:exon10:c.C849T:p.G283G,EPSTI1:NM_001002264:exon11:c.C882T:p.G294G exonic ENSG00000133106 NA synonymous SNV ENSG00000133106:ENST00000313624:exon10:c.C849T:p.G283G,ENSG00000133106:ENST00000313640:exon11:c.C882T:p.G294G,ENSG00000133106:ENST00000398762:exon11:c.C882T:p.G294G Score=569;Name=lod=273 NA 13q14.11 Score=803;Name=V$PPARG_03 Name=AP-2alpha,AP-2gamma,STAT1,p300 Name=100 NA rs1359184 0.44 0.44 0.411 0.469848 0.335 0.62 0.4582 0.4062 0.5481 0.33 0.62 0.45 0.39 0.3905 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.872676 NA NA 0.347907 0.387426 NA 0.384 NA 8.5932596 801 7 2577781 2577781 T C exonic BRAT1 NA synonymous SNV BRAT1:NM_152743:exon14:c.A2388G:p.E796E exonic ENSG00000106009 NA synonymous SNV ENSG00000106009:ENST00000340611:exon14:c.A2388G:p.E796E Score=340;Name=lod=32 NA 7p22.3 Score=833;Name=V$MYCMAX_01 Name=CTCF Name=12 NA rs1043291 0.45 0.45 0.432 0.461462 0.3519 0.3661 0.4121 0.7352 0.3374 0.35 0.39 0.39 0.7 0.3895 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.069814 NA NA 0.332863 0.642792 ID=COSM452894;OCCURENCE=3(breast),1(large_intestine) 0.384 NA 8.5924036 801 16 84012104 84012104 T C exonic NECAB2 NA synonymous SNV NECAB2:NM_019065:exon3:c.T282C:p.L94L exonic ENSG00000103154 NA nonsynonymous SNV ENSG00000103154:ENST00000565691:exon2:c.T59C:p.L20S Score=595;Name=lod=350 NA 16q23.3 Score=807;Name=V$BRN2_01 Name=SETDB1,KAP1 NA NA rs925331 0.28 0.28 0.308 0.327676 0.1163 0.1181 0.2262 0.7988 0.1963 0.11 0.13 0.2 0.78 0.186 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 1.915547 1.915547 NA 0.10593 0.693409 NA 0.406 NA 8.59177 801 11 4791111 4791111 T C exonic OR51F1 NA nonsynonymous SNV OR51F1:NM_001004752:exon1:c.A37G:p.T13A exonic ENSG00000188069 NA nonsynonymous SNV ENSG00000188069:ENST00000343430:exon1:c.A37G:p.T13A,ENSG00000188069:ENST00000380383:exon1:c.A58G:p.T20A Score=300;Name=lod=22 NA 11p15.4 NA NA NA NA rs17324812 0.13 0.13 0.134 0.135982 0.2485 0.0635 0.1427 0.0091 0.2618 0.24 0.07 0.15 0.02 0.2249 0.27 0.17 T 0.005 B 0.006 B 0.028 N 0.000 P 2.23 M 8.1 T -0.951 T 0.000 T 0.027 1.722 11.72 0.84 0.316 -0.930 4.146 1.721629 1.721629 0.08 0.268846 0.048387 NA 0.159 NA 8.5910874 801 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 801 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 801 19 23837145 23837145 A G exonic ZNF675 NA nonsynonymous SNV ZNF675:NM_138330:exon4:c.T590C:p.V197A exonic ENSG00000197372 NA nonsynonymous SNV ENSG00000197372:ENST00000359788:exon4:c.T590C:p.V197A Score=321;Name=lod=27 NA 19p12 NA NA NA NA rs11671053 0.4 0.4 0.389 0.372204 0.6173 0.125 0.4424 0.3593 0.3425 0.62 0.15 0.46 0.33 0.5058 0.62 0.02 D 0.212 B 0.101 B . . 0.996 P 0.925 L 2.45 T -0.971 T 0.000 T 0.055 1.158 9.716 -2.16 -0.617 -0.105 5.106 1.158276 NA 0.05 0.619823 0.383689 NA 0.464 NA 8.5904104 801 19 55174498 55174498 T C exonic LILRB4 NA nonsynonymous SNV LILRB4:NM_001081438:exon1:c.T13C:p.F5L,LILRB4:NM_006847:exon1:c.T13C:p.F5L exonic ENSG00000186818 NA nonsynonymous SNV ENSG00000186818:ENST00000270452:exon1:c.T13C:p.F5L,ENSG00000186818:ENST00000391733:exon1:c.T13C:p.F5L,ENSG00000186818:ENST00000391734:exon1:c.T13C:p.F5L,ENSG00000186818:ENST00000430952:exon1:c.T13C:p.F5L,ENSG00000186818:ENST00000434286:exon1:c.T13C:p.F5L,ENSG00000186818:ENST00000391736:exon3:c.T13C:p.F5L NA NA 19q13.42 NA Name=Pol2 Name=11 NA rs28366008 0.29 0.29 0.297 0.304513 0.2386 0.2331 0.2334 0.4955 0.2382 0.25 0.22 0.23 0.5 0.2539 0.5 1 T 0.001 B 0.002 B . . 1.000 P -2.625 N 7.46 T -0.982 T 0.000 T 0.278 -1.204 0.07 0.476 -0.466 -0.282 3.440 -1.203873 NA 1 0.250698 0.422379 ID=COSM148745;OCCURENCE=1(stomach) 0.304 NA 8.5901354 801 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 801 14 105930406 105930406 G A exonic MTA1 NA nonsynonymous SNV MTA1:NM_001203258:exon13:c.G1114A:p.V372I,MTA1:NM_004689:exon13:c.G1114A:p.V372I exonic ENSG00000182979 NA nonsynonymous SNV ENSG00000182979:ENST00000434050:exon6:c.G490A:p.V164I,ENSG00000182979:ENST00000405646:exon12:c.G1063A:p.V355I,ENSG00000182979:ENST00000331320:exon13:c.G1114A:p.V372I,ENSG00000182979:ENST00000406191:exon13:c.G1114A:p.V372I,ENSG00000182979:ENST00000438610:exon13:c.G1114A:p.V372I Score=544;Name=lod=216 NA 14q32.33 NA NA NA NA rs4983413 0.3 0.3 0.256 0.284944 0.2366 0.622 0.3314 0.0121 0.3231 0.23 0.63 0.3 0.02 0.2756 0.63 0.2 T 0.317 B 0.067 B 0.021 N 0.000 P 0.69 N 1.53 T -0.976 T 0.000 T 0.312 2.082 12.92 1.66 0.366 1.456 7.062 2.082237 2.082237 0.05 0.231977 0.052882 ID=COSM147860;OCCURENCE=1(stomach) 0.116 NA 8.5891564 801 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 801 2 65245365 65245365 G A exonic SLC1A4 NA nonsynonymous SNV SLC1A4:NM_001193493:exon5:c.G301A:p.V101I,SLC1A4:NM_003038:exon6:c.G1195A:p.V399I exonic ENSG00000115902 NA nonsynonymous SNV ENSG00000115902:ENST00000531327:exon5:c.G301A:p.V101I,ENSG00000115902:ENST00000234256:exon6:c.G1195A:p.V399I NA NA 2p14 NA Name=Pol2,c-Myc,CEBPB Name=5 NA rs759458 0.18 0.18 0.17 0.191893 0.2435 0.1091 0.1945 0.1354 0.2986 0.24 0.11 0.24 0.12 0.2401 0.26 . . 0.026 B 0.009 B 0.029 N 1.000 P 0.05 N 0.3 T -1.015 T 0.000 T 0.045 0.274 5.48 0.22 -0.237 0.495 5.682 0.273673 NA 0.34 0.262442 0.175216 NA 0.138 NA 8.5872914 801 2 27478231 27478231 A G exonic SLC30A3 NA synonymous SNV SLC30A3:NM_003459:exon8:c.T1116C:p.Y372Y exonic ENSG00000115194 NA synonymous SNV ENSG00000115194:ENST00000233535:exon8:c.T1116C:p.Y372Y,ENSG00000115194:ENST00000447008:exon9:c.T1101C:p.Y367Y Score=516;Name=lod=167 NA 2p23.3 NA Name=HMGN3,GATA-2,Pol2,CCNT2,Pol2(b),NRSF Name=10 NA rs13390228 0.11 0.11 0.117 0.13778 0.0149 NA 0.062 0.4766 0.002 0.01 NA 0.06 0.45 0.0482 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.837013 NA NA 0.016628 0.421471 NA 0.239 NA 8.5869386 801 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 801 8 13356802 13356802 G A exonic DLC1 NA nonsynonymous SNV DLC1:NM_024767:exon2:c.C779T:p.T260I,DLC1:NM_182643:exon2:c.C779T:p.T260I exonic ENSG00000164741 NA nonsynonymous SNV ENSG00000164741:ENST00000276297:exon2:c.C779T:p.T260I,ENSG00000164741:ENST00000316609:exon2:c.C779T:p.T260I,ENSG00000164741:ENST00000511869:exon2:c.C779T:p.T260I NA NA 8p22 NA NA Name=13 NA rs3816747 0.81 0.81 0.798 0.815096 0.9374 0.6131 0.7334 0.8381 0.9243 0.94 0.61 0.8 0.86 0.8777 0.94 0.21 T 0.0 B 0.0 B 0.151 N 1.000 P -1.15 N 3.65 T -0.942 T 0.000 T 0.054 -0.292 2.607 -9.96 -2.998 -1.122 8.850 -0.29163 NA 0.38 0.933023 0.865411 NA 0.833 NA 8.5852104 801 2 130925088 130925088 C T exonic SMPD4 NA synonymous SNV SMPD4:NM_001171083:exon7:c.G633A:p.T211T,SMPD4:NM_017751:exon9:c.G852A:p.T284T,SMPD4:NM_017951:exon9:c.G852A:p.T284T exonic ENSG00000136699 NA synonymous SNV ENSG00000136699:ENST00000451542:exon2:c.G183A:p.T61T,ENSG00000136699:ENST00000431183:exon7:c.G633A:p.T211T,ENSG00000136699:ENST00000339679:exon8:c.G513A:p.T171T,ENSG00000136699:ENST00000351288:exon9:c.G852A:p.T284T,ENSG00000136699:ENST00000409031:exon9:c.G852A:p.T284T Score=624;Name=lod=457 NA 2q21.1 NA NA NA NA rs10909567 0.37 0.37 0.314 0.359824 0.3429 0.4405 0.4366 0.211 0.4407 0.35 0.47 0.41 0.25 0.3787 0.47 . . . . . . . . 0.000 P . . . . -0.950 T 0.000 T . 1.28 10.18 -6.91 -0.789 -3.081 7.542 1.280335 1.280335 NA 0.36 0.262143 NA 0.486 NA 8.5850666 802 1 16256007 16256007 T C exonic SPEN NA nonsynonymous SNV SPEN:NM_015001:exon11:c.T3272C:p.L1091P exonic ENSG00000065526 NA nonsynonymous SNV ENSG00000065526:ENST00000375759:exon11:c.T3272C:p.L1091P NA NA 1p36.13 NA NA Name=5 NA rs848209 0.6 0.6 0.604 0.648962 0.5577 0.3214 0.7118 0.9758 0.5941 0.56 0.3 0.7 0.95 0.6154 0.95 0.43 T 0.0 B 0.0 B . . 1.000 P -0.665 N 3.2 T -1.030 T 0.000 T 0.031 -1.056 0.188 3.51 0.411 1.031 11.158 -1.056057 NA 0.01 0.576279 0.905356 NA 0.594 NA 8.5839544 802 3 127641968 127641968 C A exonic KBTBD12 NA nonsynonymous SNV KBTBD12:NM_207335:exon1:c.C64A:p.Q22K exonic ENSG00000187715 NA nonsynonymous SNV ENSG00000187715:ENST00000405256:exon1:c.C64A:p.Q22K,ENSG00000187715:ENST00000405109:exon2:c.C64A:p.Q22K Score=391;Name=lod=52 NA 3q21.3 NA NA NA NA rs4141499 0.64 0.64 0.665 0.692692 0.5716 0.6696 0.4914 0.854 0.7658 0.58 0.64 0.52 0.82 0.6095 0.82 0.31 T 0.0 B 0.0 B . . 0.000 P 0.11 N -0.47 T -0.964 T 0.000 T 0.025 -0.88 0.481 4.54 0.416 3.562 12.990 -0.880053 NA 1 0.569302 0.809537 ID=COSM1418735,COSM1418734;OCCURENCE=1(large_intestine) 0.587 NA 8.5829314 802 14 64519035 64519035 A G exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon48:c.A8404G:p.S2802G,SYNE2:NM_182914:exon48:c.A8404G:p.S2802G exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000344113:exon48:c.A8404G:p.S2802G,ENSG00000054654:ENST00000358025:exon48:c.A8404G:p.S2802G,ENSG00000054654:ENST00000554584:exon48:c.A8503G:p.S2835G NA NA 14q23.2 NA NA NA NA rs1890908 0.89 0.89 0.883 0.861821 0.9125 0.8532 0.9164 0.8563 0.7873 0.91 0.88 0.91 0.85 0.9068 0.93 0.53 T 0.058 B 0.04 B 0.035 N 1.000 P 0.55 N 1.32 T -1.027 T 0.000 T 0.046 0.009 4.059 -6.91 -1.825 -1.609 8.692 0.00866 NA 0.62 0.931619 0.8704 NA 0.906 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118553.1;CLNDSDB=.;CLNDSDBID=. 8.5824144 802 16 84690608 84690608 C T exonic KLHL36 NA synonymous SNV KLHL36:NM_024731:exon3:c.C195T:p.A65A exonic ENSG00000135686 NA synonymous SNV ENSG00000135686:ENST00000258157:exon3:c.C195T:p.A65A,ENSG00000135686:ENST00000564996:exon3:c.C195T:p.A65A,ENSG00000135686:ENST00000567410:exon3:c.C195T:p.A65A,ENSG00000135686:ENST00000569472:exon3:c.C195T:p.A65A Score=591;Name=lod=336 NA 16q24.1 Score=848;Name=V$AHRARNT_01 NA Name=11 NA rs74338298 0.01 0.01 0.016 0.0177716 0.0249 NA 0.0173 0.0136 0.0348 0.02 NA 0.01 0.01 0.0269 0.034 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.451233 NA NA 0.033605 0.010459 NA 0.007 NA 8.5812616 802 13 114112389 114112389 T C exonic DCUN1D2 NA synonymous SNV DCUN1D2:NM_001014283:exon7:c.A735G:p.E245E exonic ENSG00000150401 NA synonymous SNV ENSG00000150401:ENST00000332592:exon5:c.A336G:p.E112E,ENSG00000150401:ENST00000478244:exon7:c.A735G:p.E245E Score=477;Name=lod=116 NA 13q34 Score=899;Name=V$OCT1_02 NA Name=4 NA rs41286638 0.04 0.04 0.041 0.0371406 0.0288 0.124 0.0101 0.0015 0.0235 0.03 0.11 0.01 0.0041 0.0346 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 -0.958111 NA NA 0.023023 0.005447 ID=COSM147723;OCCURENCE=1(stomach) 0.036 NA 8.5802436 802 15 24921649 24921649 T C exonic NPAP1 NA nonsynonymous SNV NPAP1:NM_018958:exon1:c.T635C:p.V212A exonic ENSG00000185823 NA nonsynonymous SNV ENSG00000185823:ENST00000329468:exon1:c.T635C:p.V212A NA NA 15q11.2 NA NA NA NA rs3784246 0.1 0.1 0.09 0.107029 0.0746 0.1478 0.1542 0.0703 0.1145 0.08 0.13 0.13 0.04 0.0996 0.13 0.22 T 0.979 D 0.725 P . . 1.000 P 1.24 L 2.72 T -1.025 T 0.000 T 0.082 1.88 12.25 0.509 0.118 -0.414 4.53 1.880335 1.880335 0 0.079302 0.066727 ID=COSM1372086;OCCURENCE=1(large_intestine) 0.043 NA 8.5798314 802 11 61551356 61551356 T C exonic MYRF NA synonymous SNV MYRF:NM_013279:exon23:c.T3033C:p.S1011S,MYRF:NM_001127392:exon24:c.T3153C:p.S1051S exonic ENSG00000124920 NA synonymous SNV ENSG00000124920:ENST00000389602:exon12:c.T1311C:p.S437S,ENSG00000124920:ENST00000265460:exon23:c.T3033C:p.S1011S,ENSG00000124920:ENST00000278836:exon24:c.T3153C:p.S1051S Score=578;Name=lod=299 Name=Phospholipid levels (plasma) 11q12.2 Score=895;Name=V$MEIS1_01 Name=CTCF NA NA rs174535 0.36 0.36 0.273 0.340056 0.3549 0.5694 0.6037 0.1467 0.1626 0.36 0.41 0.56 0.14 0.4005 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714963 NA NA 0.332635 0.202997 ID=COSM1355261;OCCURENCE=1(large_intestine) 0.333 NA 8.5786316 802 19 4454083 4454083 C T exonic UBXN6 NA nonsynonymous SNV UBXN6:NM_025241:exon2:c.G91A:p.A31T exonic ENSG00000167671 NA nonsynonymous SNV ENSG00000167671:ENST00000301281:exon2:c.G91A:p.A31T,ENSG00000167671:ENST00000592515:exon2:c.G19A:p.A7T Score=340;Name=lod=32 NA 19p13.3 NA Name=Pol2 NA NA rs1127888 0.17 0.17 0.167 0.166933 0.2624 0.0645 0.3213 0.09 0.1687 0.25 0.06 0.29 0.1 0.2215 0.29 0.67 T 0.001 B 0.003 B 0.970 N 0.000 P 1.59 L 0.95 T -0.985 T 0.000 T 0.016 0.894 8.633 1.96 0.211 0.552 6.926 0.894076 NA 0.49 0.27093 0.11961 NA 0.239 NA 8.5785034 802 1 24201920 24201920 T C exonic CNR2 NA nonsynonymous SNV CNR2:NM_001841:exon2:c.A188G:p.Q63R exonic ENSG00000188822 NA nonsynonymous SNV ENSG00000188822:ENST00000374472:exon2:c.A188G:p.Q63R,ENSG00000188822:ENST00000536471:exon3:c.A188G:p.Q63R NA NA 1p36.11 NA NA NA NA rs2501432 0.52 0.52 0.606 0.653355 0.5875 0.502 0.6383 0.7943 0.6973 0.47 0.47 0.56 0.61 0.6182 0.73 0.66 T 0.0 B 0.0 B 0.091 N 1.000 P -0.995 N -0.51 T -0.955 T 0.000 T 0.02 -1.626 0.013 5.12 1.585 1.434 8.677 -1.626255 NA 0.77 0.550233 0.728098 ID=COSM146448;OCCURENCE=1(stomach) NA NA 8.5774004 802 1 114948281 114948281 A G exonic TRIM33 NA nonsynonymous SNV TRIM33:NM_015906:exon15:c.T2519C:p.I840T,TRIM33:NM_033020:exon15:c.T2519C:p.I840T exonic ENSG00000197323 NA nonsynonymous SNV ENSG00000197323:ENST00000450349:exon14:c.T1415C:p.I472T,ENSG00000197323:ENST00000358465:exon15:c.T2519C:p.I840T,ENSG00000197323:ENST00000369543:exon15:c.T2519C:p.I840T Score=639;Name=lod=525 NA 1p13.2 Score=819;Name=V$IRF1_01 NA NA NA rs6537825 0.84 0.84 0.874 0.85643 0.9364 0.5823 0.8012 0.9803 0.9284 0.94 0.6 0.81 0.98 0.8921 0.98 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.805 N -0.46 T -1.066 T 0.039 T 0.227 -0.087 3.574 4.35 0.649 2.976 10.725 -0.087119 NA 1 0.927442 0.971403 NA 0.862 NA 8.5773914 802 6 32946133 32946133 T C exonic BRD2 NA synonymous SNV BRD2:NM_001199455:exon9:c.T1809C:p.S603S,BRD2:NM_001199456:exon9:c.T1668C:p.S556S,BRD2:NM_001113182:exon10:c.T1809C:p.S603S,BRD2:NM_005104:exon10:c.T1809C:p.S603S exonic ENSG00000204256 NA synonymous SNV ENSG00000204256:ENST00000395287:exon9:c.T1809C:p.S603S,ENSG00000204256:ENST00000449085:exon9:c.T1668C:p.S556S,ENSG00000204256:ENST00000374825:exon10:c.T1809C:p.S603S,ENSG00000204256:ENST00000374831:exon10:c.T1809C:p.S603S,ENSG00000204256:ENST00000395289:exon10:c.T1809C:p.S603S,ENSG00000204256:ENST00000443797:exon11:c.T1449C:p.S483S Score=381;Name=lod=47 NA 6p21.32 NA Name=Pol2-4H8 Name=6 NA rs206781 0.27 0.27 0.266 0.264177 0.3748 0.1964 0.2911 0.171 0.3272 0.39 0.19 0.28 0.18 0.3452 0.39 . . . . . . . . 0.000 P . . . . -1.028 T 0.029 T . 1.499 10.96 1.48 0.446 -0.043 2.280 1.49921 1.49921 NA 0.370801 0.214049 NA 0.399 NA 8.5758656 802 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$ARNT_02 NA NA NA rs11758339 0.2 0.2 0.195 0.21865 0.2515 0.2401 0.2507 0.0802 0.3272 0.24 0.23 0.28 0.07 0.2455 0.28 1 T 0.0 B 0.002 B . . 1.000 P 0.14 N 1.07 T -0.971 T 0.015 T 0.001 1.295 10.24 1.9 0.335 0.212 7.175 1.295014 1.295014 0.75 0.260582 0.101341 NA 0.203 NA 8.5757514 802 X 30254376 30254376 T C exonic MAGEB3 NA nonsynonymous SNV MAGEB3:NM_002365:exon5:c.T335C:p.I112T exonic ENSG00000198798 NA nonsynonymous SNV ENSG00000198798:ENST00000361644:exon5:c.T335C:p.I112T,ENSG00000198798:ENST00000378986:exon5:c.T335C:p.I112T NA NA Xp21.2 NA NA NA NA rs2071309 0.81 0.81 0.79253 NA NA NA NA NA NA 0.89 0.57 0.89 0.9 0.8609 0.9 1 T 0.0 B 0.0 B 0.187 N 1.000 P -1.895 N 4.92 T -0.944 T 0.000 T 0.013 -1.824 0.009 -8.21 -3.153 -2.949 4.255 -1.824202 NA 1 0.897146 0.89486 ID=COSM1467436;OCCURENCE=1(large_intestine) 0.681 NA 8.5752874 803 12 94543506 94543506 C T exonic PLXNC1 NA synonymous SNV PLXNC1:NM_005761:exon1:c.C759T:p.Y253Y exonic ENSG00000136040 NA synonymous SNV ENSG00000136040:ENST00000258526:exon1:c.C759T:p.Y253Y Score=539;Name=lod=206 Name=Breast cancer 12q22 Score=988;Name=V$EN1_01 NA Name=43 NA rs2230754 0.44 0.44 0.389 0.451478 0.34 0.4831 0.4654 0.5204 0.4305 0.32 0.45 0.48 0.56 0.3892 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.870749 NA NA 0.363264 0.431267 ID=COSM1562414;OCCURENCE=1(large_intestine) 0.37 NA 8.5742026 803 17 7292107 7292107 G A exonic TNK1 NA nonsynonymous SNV TNK1:NM_001251902:exon12:c.G1792A:p.V598M,TNK1:NM_003985:exon12:c.G1777A:p.V593M exonic ENSG00000174292 NA nonsynonymous SNV ENSG00000174292:ENST00000311668:exon12:c.G1777A:p.V593M,ENSG00000174292:ENST00000576812:exon12:c.G1792A:p.V598M,ENSG00000174292:ENST00000570896:exon13:c.G1777A:p.V593M Score=349;Name=lod=35 NA 17p13.1 NA NA NA NA rs6503018 0.77 0.77 0.749 0.725639 0.9394 0.7718 0.7925 0.4455 0.7894 0.95 0.76 0.8 0.49 0.8661 0.95 . . 0.208 B 0.179 B 0.102 N 0.002 P 2.16 M -1.63 D -1.020 T 0.000 T 0.091 2.087 12.94 0.321 0.565 2.235 4.551 2.087246 2.087246 NA 0.954253 0.552733 NA 0.775 NA 8.5735804 803 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=ZNF263,NRSF,Pol2 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 803 14 58598357 58598357 C T exonic C14orf37 NA synonymous SNV C14orf37:NM_001001872:exon4:c.G1704A:p.V568V exonic ENSG00000139971 NA synonymous SNV ENSG00000139971:ENST00000267485:exon4:c.G1704A:p.V568V Score=289;Name=lod=20 NA 14q23.1 NA Name=PU.1,ELF1_(SC-631),CTCF Name=58 NA rs45465593 0.02 0.02 0.015 0.0111821 0.0408 NA 0.0101 0.003 0.0041 0.04 NA 0.01 0.01 0.0233 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 -0.001593 NA NA 0.02907 0.007263 NA 0.058 NA 8.5734966 803 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 803 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 803 22 45821956 45821956 C G exonic RIBC2 NA unknown UNKNOWN exonic ENSG00000128408 NA nonsynonymous SNV ENSG00000128408:ENST00000342894:exon5:c.C585G:p.F195L,ENSG00000128408:ENST00000538017:exon5:c.C789G:p.F263L NA NA 22q13.31 NA NA NA NA rs1022478 0.51 0.51 0.525 0.563898 0.3579 0.5238 0.3674 0.8222 0.6074 0.35 0.52 0.38 0.84 0.4172 0.84 0.72 T 0.199 B 0.093 B 0.018 N 0.870 P . . 2.03 T -1.039 T 0.000 T 0.323 1.913 12.36 -8.59 -2.157 -2.139 10.231 1.913147 1.913147 0.07 0.319302 0.750113 NA 0.58 NA 8.5722647 803 6 7310259 7310259 A G exonic SSR1 NA nonsynonymous SNV SSR1:NM_003144:exon2:c.T83C:p.L28S exonic ENSG00000124783 NA nonsynonymous SNV ENSG00000124783:ENST00000244763:exon2:c.T83C:p.L28S,ENSG00000124783:ENST00000397511:exon2:c.T83C:p.L28S,ENSG00000124783:ENST00000462112:exon2:c.T83C:p.L28S,ENSG00000124783:ENST00000474597:exon2:c.T83C:p.L28S,ENSG00000124783:ENST00000479365:exon2:c.T83C:p.L28S,ENSG00000124783:ENST00000489567:exon2:c.T83C:p.L28S,ENSG00000124783:ENST00000534851:exon2:c.T83C:p.L28S NA NA 6p24.3 NA NA NA NA rs10004 0.29 0.29 0.307 0.294329 0.2455 0.2609 0.1542 0.5144 0.181 0.25 0.25 0.18 0.49 0.2547 0.49 0.43 T 0.0 B 0.001 B 0.077 N 1.000 P 0.625 N 0.93 T -1.037 T 0.025 T 0.11 0.868 8.517 3.04 0.625 3.670 7.604 0.867893 NA 0.4 0.262558 0.454834 ID=COSM323621;OCCURENCE=1(lung) 0.283 NA 8.5705754 803 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 803 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=HA-E2F1,Pol2,POU2F2,CTCF,Pol2-4H8,TAF1,CTCF_(C-20),NFKB,HEY1,Oct-2,TCF4,YY1_(C-20),NRSF,PAX5-C20,NANOG_(SC-33759),Pol2(b),Egr-1,TBP 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 803 3 140178485 140178485 G A exonic CLSTN2 NA nonsynonymous SNV CLSTN2:NM_022131:exon7:c.G1096A:p.V366I exonic ENSG00000158258 NA nonsynonymous SNV ENSG00000158258:ENST00000458420:exon7:c.G1096A:p.V366I Score=383;Name=lod=48 NA 3q23 NA NA NA NA rs7632885 0.55 0.55 0.54 0.532348 0.5944 0.502 0.4265 0.6112 0.4683 0.6 0.51 0.45 0.6 0.5648 0.61 0.67 T 0.0 B 0.001 B 0.000 N 1.000 P -0.325 N -0.82 T -0.915 T 0.000 T 0.048 -0.263 2.739 4.25 0.369 2.225 8.393 -0.262611 NA 1 0.605698 0.586019 NA 0.457 NA 8.5684354 803 17 40706906 40706906 G A exonic HSD17B1 NA nonsynonymous SNV HSD17B1:NM_000413:exon6:c.G937A:p.G313S exonic ENSG00000108786 NA nonsynonymous SNV ENSG00000108786:ENST00000225929:exon6:c.G940A:p.G314S,ENSG00000108786:ENST00000585807:exon6:c.G937A:p.G313S NA NA 17q21.2 NA Name=Sin3Ak-20,TBP,PAX5-N19,YY1,Pol2(phosphoS2),Pol2,CHD2_(N-1250),ETS1,HNF4G_(SC-6558),HEY1,ELF1_(SC-631),TAF1,Pol2-4H8,GABP,EBF1_(C-8) Name=137 NA rs605059 0.49 0.49 0.441 0.522564 0.5249 0.4534 0.4942 0.4849 0.6626 0.53 0.45 0.44 0.51 0.6371 0.6 0.53 T 0.002 B 0.0 B 0.001 N 1.000 P 0.55 N . . -0.889 T 0.000 T 0.038 -0.507 1.679 -1.21 -2.560 -1.026 . -0.506941 NA 0.66 0.603072 0.573171 ID=COSM436638;OCCURENCE=1(breast) 0.601 NA 8.5682614 803 3 132075554 132075554 T C exonic ACPP NA synonymous SNV ACPP:NM_001099:exon10:c.T993C:p.Y331Y,ACPP:NM_001134194:exon10:c.T993C:p.Y331Y exonic ENSG00000014257 NA synonymous SNV ENSG00000014257:ENST00000475741:exon9:c.T894C:p.Y298Y,ENSG00000014257:ENST00000336375:exon10:c.T993C:p.Y331Y,ENSG00000014257:ENST00000351273:exon10:c.T993C:p.Y331Y Score=448;Name=lod=88 NA 3q22.1 NA NA NA NA rs3181784 0.28 0.28 0.251 0.303514 0.3767 0.0804 0.3761 0.3245 0.3783 0.37 0.07 0.39 0.32 0.339 0.39 . . . . . . . . 0.000 P . . . . -1.012 T 0.000 T . 1.205 9.892 -4.32 -1.077 0.006 12.364 1.204508 NA NA 0.384186 0.324557 ID=COSM1130341,COSM1130342;OCCURENCE=2(prostate) 0.261 NA 8.5667806 803 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 803 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 804 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 804 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 804 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 804 19 38990593 38990593 C T exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon45:c.C7260T:p.H2420H,RYR1:NM_001042723:exon45:c.C7260T:p.H2420H exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon45:c.C7260T:p.H2420H,ENSG00000196218:ENST00000359596:exon45:c.C7260T:p.H2420H,ENSG00000196218:ENST00000360985:exon45:c.C7260T:p.H2420H Score=585;Name=lod=318 NA 19q13.2 Score=945;Name=V$P53_02 NA NA NA rs12973632 0.03 0.03 0.028 0.0233626 0.0388 0.001 0.0375 0.0234 0.0204 0.04 NA 0.04 0.05 0.0327 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.761288 NA NA 0.033372 0.020881 NA 0.08 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000119692.1;CLNDSDB=.;CLNDSDBID=. 8.5617946 804 20 31688260 31688260 C T exonic BPIFB4 NA nonsynonymous SNV BPIFB4:NM_182519:exon12:c.C1598T:p.T533I exonic ENSG00000186191 NA nonsynonymous SNV ENSG00000186191:ENST00000375483:exon12:c.C1598T:p.T533I Score=321;Name=lod=27 NA 20q11.21 NA NA NA NA rs11696307 0.48 0.48 0.484 0.472644 0.6044 0.247 0.5187 0.5189 0.4744 0.6 0.24 0.54 0.52 0.5539 0.61 0.3 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 3.3 T -1.034 T 0.000 T 0.105 0.572 7.09 4.67 0.463 1.778 10.320 0.571892 NA 0.35 0.613721 0.549705 NA 0.493 NA 8.5613124 804 19 50720940 50720940 T C exonic MYH14 NA synonymous SNV MYH14:NM_001077186:exon3:c.T474C:p.I158I,MYH14:NM_001145809:exon3:c.T474C:p.I158I,MYH14:NM_024729:exon3:c.T474C:p.I158I exonic ENSG00000105357 NA synonymous SNV ENSG00000105357:ENST00000262269:exon2:c.T474C:p.I158I,ENSG00000105357:ENST00000596571:exon2:c.T474C:p.I158I,ENSG00000105357:ENST00000376970:exon3:c.T474C:p.I158I,ENSG00000105357:ENST00000425460:exon3:c.T474C:p.I158I,ENSG00000105357:ENST00000440075:exon3:c.T474C:p.I158I,ENSG00000105357:ENST00000598205:exon3:c.T474C:p.I158I,ENSG00000105357:ENST00000599920:exon3:c.T474C:p.I158I,ENSG00000105357:ENST00000601313:exon3:c.T474C:p.I158I Score=577;Name=lod=295 NA 19q13.33 Score=855;Name=V$SOX9_B1 NA NA NA rs34796700 0.01 0.01 0.013 0.013778 0.0358 NA 0.0303 0.0023 0.0092 0.03 NA 0.03 NA 0.029 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 1.619087 1.619087 NA 0.041238 0.008031 NA 0.014 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037047.1;CLNDSDB=.;CLNDSDBID=. 8.5606286 804 10 129245684 129245684 G A exonic DOCK1 NA nonsynonymous SNV DOCK1:NM_001380:exon51:c.G5377A:p.A1793T exonic ENSG00000150760 NA nonsynonymous SNV ENSG00000150760:ENST00000280333:exon51:c.G5377A:p.A1793T NA NA 10q26.2 NA NA NA NA rs869801 0.21 0.21 0.195 0.204673 0.2584 0.12 0.2233 0.211 0.2147 0.26 0.12 0.25 0.2 0.2566 0.26 0.42 T 0.0 B 0.0 B 0.407 U 1.000 P -0.345 N 3.85 T -0.903 T 0.000 T 0.078 0.428 6.324 -10.4 -1.651 -0.958 0.403 0.427794 NA 0.55 0.25865 0.193313 ID=COSM147088;OCCURENCE=1(stomach) 0.268 NA 8.5596834 804 15 83781598 83781598 C T exonic TM6SF1 NA synonymous SNV TM6SF1:NM_001144903:exon2:c.C142T:p.L48L,TM6SF1:NM_023003:exon2:c.C142T:p.L48L exonic ENSG00000136404 NA synonymous SNV ENSG00000136404:ENST00000258909:exon2:c.C142T:p.L48L,ENSG00000136404:ENST00000322019:exon2:c.C142T:p.L48L,ENSG00000136404:ENST00000379384:exon2:c.C142T:p.L48L,ENSG00000136404:ENST00000379386:exon2:c.C142T:p.L48L,ENSG00000136404:ENST00000379390:exon2:c.C142T:p.L48L,ENSG00000136404:ENST00000565774:exon2:c.C142T:p.L48L Score=295;Name=lod=21 NA 15q25.2 NA Name=c-Jun,GATA-2,CTCF,c-Fos Name=84 NA rs80329914 0.03 0.03 NA 0.0231629 0.0616 NA 0.0418 0.0008 0.0245 0.05 NA 0.05 0.002 0.0456 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 1.173334 NA NA 0.000465 0 NA NA NA 8.5590016 804 1 16344494 16344494 G A UTR5 HSPB7 NM_014424:c.-36C>T NA NA UTR5 ENSG00000173641 ENST00000311890:c.-36C>T,ENST00000411503:c.-36C>T,ENST00000487046:c.-36C>T,ENST00000406363:c.-36C>T,ENST00000545268:c.-36C>T NA NA Score=343;Name=lod=33 NA 1p36.13 NA Name=Pol2 NA NA rs1572381 0.64 0.64 0.629 0.648363 0.5924 0.7639 0.4553 0.7088 0.6421 0.58 0.75 0.48 0.71 0.5973 0.75 0.25 T 0.072 B 0.023 B 0.510 N 0.000 P . . . . -0.945 T 0.000 T . 0.913 8.715 3.39 2.245 1.542 7.405 0.913076 NA 0.81 0.584756 0.680073 NA 0.645 NA 8.5588774 804 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 804 2 1271230 1271230 A G exonic SNTG2 NA nonsynonymous SNV SNTG2:NM_018968:exon14:c.A1171G:p.I391V exonic ENSG00000172554 NA nonsynonymous SNV ENSG00000172554:ENST00000407292:exon8:c.A790G:p.I264V,ENSG00000172554:ENST00000308624:exon14:c.A1171G:p.I391V Score=414;Name=lod=64 NA 2p25.3 NA NA NA NA rs13023962 0.3 0.3 0.318 0.360024 0.2515 0.3204 0.232 0.5015 0.4121 0.25 0.31 0.21 0.44 0.2848 0.44 1 T 0.001 B 0.002 B 0.001 N 0.999 P -1.565 N 1.34 T -0.967 T 0.000 T 0.024 -2.619 0 1.67 -0.223 1.877 5.308 -2.618827 NA 1 0.241112 0.441542 NA 0.384 NA 8.5559214 805 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 805 6 152650903 152650903 G A exonic SYNE1 NA synonymous SNV SYNE1:NM_033071:exon77:c.C14704T:p.L4902L,SYNE1:NM_182961:exon78:c.C14917T:p.L4973L exonic ENSG00000131018 NA synonymous SNV ENSG00000131018:ENST00000423061:exon77:c.C14704T:p.L4902L,ENSG00000131018:ENST00000265368:exon78:c.C14917T:p.L4973L,ENSG00000131018:ENST00000367255:exon78:c.C14917T:p.L4973L,ENSG00000131018:ENST00000448038:exon78:c.C14704T:p.L4902L,ENSG00000131018:ENST00000341594:exon81:c.C14158T:p.L4720L Score=358;Name=lod=38 NA 6q25.2 NA NA Name=2 NA rs35085679 0.03 0.03 0.024 0.033746 0.0368 0.0198 0.0245 0.0333 0.0521 0.03 0.03 0.02 0.03 0.0342 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 1.332148 1.332148 NA 0.043605 0.031094 NA 0.014 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118447.2;CLNDSDB=.;CLNDSDBID=. 8.5520616 805 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 805 22 18901004 18901004 C T exonic PRODH NA nonsynonymous SNV PRODH:NM_001195226:exon13:c.G1238A:p.R413Q,PRODH:NM_016335:exon14:c.G1562A:p.R521Q exonic ENSG00000100033 NA nonsynonymous SNV ENSG00000100033:ENST00000334029:exon13:c.G1238A:p.R413Q,ENSG00000100033:ENST00000357068:exon13:c.G1562A:p.R521Q,ENSG00000100033:ENST00000420436:exon13:c.G1238A:p.R413Q Score=595;Name=lod=350 NA 22q11.21 NA NA NA NA rs450046 0.91 0.91 0.896 0.905551 0.9284 0.9633 0.9568 0.8056 0.9213 0.93 0.96 0.95 0.8 0.9171 0.96 0.61 T 0.0 B 0.0 B 0.001 N 0.000 P . . 1.63 T -0.985 T 0.000 T 0.192 1.605 11.32 4.67 0.750 2.472 8.838 1.60501 1.60501 0.41 0.938939 0.836289 NA 0.935 CLINSIG=pathogenic|other|pathogenic;CLNDBN=Proline_dehydrogenase_deficiency|Schizophrenia_4|not_provided;CLNREVSTAT=single|single|single;CLNACC=RCV000004222.1|RCV000004223.1|RCV000115065.1;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|.;CLNDSDBID=C0268529:239500:ORPHA419:61071003|C1833247:600850|. 8.5488944 805 16 57080528 57080528 C A exonic NLRC5 NA nonsynonymous SNV NLRC5:NM_032206:exon21:c.C3313A:p.Q1105K exonic ENSG00000140853 NA nonsynonymous SNV ENSG00000140853:ENST00000538453:exon10:c.C766A:p.Q256K,ENSG00000140853:ENST00000539144:exon20:c.C3313A:p.Q1105K,ENSG00000140853:ENST00000262510:exon22:c.C3313A:p.Q1105K,ENSG00000140853:ENST00000308149:exon22:c.C3313A:p.Q1105K,ENSG00000140853:ENST00000436936:exon22:c.C3313A:p.Q1105K NA NA 16q13 Score=848;Name=V$ATF_01 NA NA NA rs289723 0.18 0.18 0.148 0.168331 0.2455 0.1081 0.2911 0.034 0.2454 0.25 0.13 0.29 0.04 0.2484 0.29 1 T 0.025 B 0.013 B 0.691 N 1.000 P 1.95 M -0.51 T -1.043 T 0.000 T 0.216 0.214 5.154 1.52 0.475 0.665 5.058 0.213957 NA 0 0.290581 0.080755 NA 0.101 NA 8.5488524 805 1 109838918 109838918 C T exonic MYBPHL NA nonsynonymous SNV MYBPHL:NM_001010985:exon6:c.G805A:p.D269N,MYBPHL:NM_001265613:exon6:c.G736A:p.D246N exonic ENSG00000221986 NA nonsynonymous SNV ENSG00000221986:ENST00000357155:exon6:c.G805A:p.D269N Score=504;Name=lod=149 NA 1p13.3 NA Name=CTCF,CTCF_(SC-5916) NA NA rs629001 0.9 0.9 0.904 0.874601 0.9284 1 0.9452 0.6558 0.9356 0.93 1 0.93 0.72 0.9219 1 0.35 T 0.01 B 0.012 B . . 0.008 P 0.625 N -0.81 T -1.093 T 0.102 T 0.033 1.454 10.8 3.27 0.752 3.461 8.025 1.453641 1.453641 0.75 0.934535 0.71448 NA 0.775 NA 8.5484984 805 16 8839954 8839954 A G exonic ABAT NA nonsynonymous SNV ABAT:NM_000663:exon3:c.A167G:p.Q56R,ABAT:NM_001127448:exon3:c.A167G:p.Q56R,ABAT:NM_020686:exon3:c.A167G:p.Q56R exonic ENSG00000183044 NA nonsynonymous SNV ENSG00000183044:ENST00000268251:exon3:c.A167G:p.Q56R,ENSG00000183044:ENST00000396600:exon3:c.A167G:p.Q56R,ENSG00000183044:ENST00000425191:exon3:c.A167G:p.Q56R,ENSG00000183044:ENST00000562115:exon3:c.A167G:p.Q56R,ENSG00000183044:ENST00000567812:exon3:c.A212G:p.Q71R,ENSG00000183044:ENST00000569156:exon3:c.A167G:p.Q56R,ENSG00000183044:ENST00000561870:exon4:c.A167G:p.Q56R,ENSG00000183044:ENST00000564714:exon4:c.A221G:p.Q74R,ENSG00000183044:ENST00000565016:exon4:c.A179G:p.Q60R Score=381;Name=lod=47 NA 16p13.2 NA NA NA NA rs1731017 0.55 0.55 0.515 0.500799 0.5984 0.5992 0.6009 0.2761 0.5317 0.63 0.62 0.61 0.3 0.5841 0.63 0.42 T 0.0 B 0.0 B 0.020 N 1.000 P -0.865 N -1.04 T -0.948 T 0.000 T 0.109 0.107 4.575 -2.86 -1.151 0.402 4.233 0.106729 NA 0.38 0.602558 0.340692 NA 0.551 NA 8.5482754 805 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 805 17 37101380 37101380 T C exonic FBXO47 NA nonsynonymous SNV FBXO47:NM_001008777:exon7:c.A626G:p.Q209R exonic ENSG00000204952 NA nonsynonymous SNV ENSG00000204952:ENST00000378079:exon7:c.A626G:p.Q209R Score=626;Name=lod=465 Name=Obesity-related traits 17q12 NA NA NA NA rs9906595 0.96 0.96 0.967 0.972045 0.9155 1 0.9424 0.9985 0.9867 0.92 1 0.92 1 0.9505 1 0.71 T 0.0 B 0.0 B 0.004 N 1.000 P -1.7 N -0.32 T -0.965 T 0.000 T 0.03 0.124 4.667 3.53 0.307 2.045 8.182 0.124036 NA 0.96 0.920233 0.984567 NA 0.978 NA 8.5471004 805 5 77425028 77425028 A T exonic AP3B1 NA nonsynonymous SNV AP3B1:NM_001271769:exon16:c.T1607A:p.V536E,AP3B1:NM_003664:exon16:c.T1754A:p.V585E exonic ENSG00000132842 NA nonsynonymous SNV ENSG00000132842:ENST00000255194:exon16:c.T1754A:p.V585E,ENSG00000132842:ENST00000519295:exon16:c.T1607A:p.V536E Score=884;Name=lod=5203 NA 5q14.1 NA NA NA NA rs6453373 0.81 0.81 0.821 NA NA NA NA NA NA 0.93 0.47 0.91 0.97 0.8628 0.97 1 T 0.0 B 0.0 B 0.000 N 0.940 P 0 N 2.7 T -0.939 T 0.000 T 0.315 -0.345 2.368 5.41 0.885 6.307 11.854 -0.345107 NA 1 0.923837 0.950295 NA 0.92 NA 8.5466964 805 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 805 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 806 14 52794007 52794007 A G exonic PTGER2 NA synonymous SNV PTGER2:NM_000956:exon2:c.A912G:p.L304L exonic ENSG00000125384 NA synonymous SNV ENSG00000125384:ENST00000245457:exon2:c.A912G:p.L304L,ENSG00000125384:ENST00000557436:exon3:c.A147G:p.L49L Score=385;Name=lod=49 NA 14q22.1 NA Name=STAT3,GR Name=79 NA rs2229187 0.02 0.02 0.011 0.0181709 0.0447 0.001 0.0231 0.0015 0.0276 0.04 0.0017 0.02 0.0041 0.0324 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 1.117335 NA NA 0.044651 0.007717 NA 0.022 NA 8.5449156 806 3 127540635 127540635 C T exonic MGLL NA synonymous SNV MGLL:NM_001003794:exon2:c.G27A:p.R9R,MGLL:NM_001256585:exon2:c.G57A:p.R19R,MGLL:NM_007283:exon2:c.G57A:p.R19R exonic ENSG00000074416 NA synonymous SNV ENSG00000074416:ENST00000265052:exon2:c.G57A:p.R19R,ENSG00000074416:ENST00000398104:exon2:c.G27A:p.R9R,ENSG00000074416:ENST00000434178:exon2:c.G27A:p.R9R,ENSG00000074416:ENST00000453507:exon2:c.G57A:p.R19R,ENSG00000074416:ENST00000494830:exon2:c.G27A:p.R9R Score=317;Name=lod=26 NA 3q21.3 NA Name=TBP,ZEB1_(SC-25388),Pol2-4H8,GATA-1,Pol2 Name=14 NA rs11538698 0.02 0.02 0.021 0.0155751 0.0507 NA 0.0216 NA 0.0123 0.05 NA 0.02 NA 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 1.428074 1.428074 NA 0.042012 0.008506 NA 0.022 NA 8.5434546 806 3 42735150 42735150 T C exonic HHATL NA nonsynonymous SNV HHATL:NM_020707:exon10:c.A1207G:p.M403V exonic ENSG00000010282 NA nonsynonymous SNV ENSG00000010282:ENST00000441594:exon10:c.A1207G:p.M403V,ENSG00000010282:ENST00000310417:exon11:c.A1207G:p.M403V Score=629;Name=lod=480 NA 3p22.1 NA NA NA NA rs11079 0.65 0.65 0.6 0.649161 0.5924 0.7113 0.6787 0.6785 0.5828 0.58 0.69 0.65 0.69 0.608 0.69 0.85 T 0.0 B 0.0 B 0.000 N 0.000 P -2.455 N -0.65 T -0.928 T 0.000 T 0.014 0.156 4.841 4.35 0.827 3.125 12.485 0.156349 NA 0.49 0.589767 0.6532 NA 0.616 NA 8.5431664 806 14 39650234 39650234 A T exonic PNN NA nonsynonymous SNV PNN:NM_002687:exon9:c.A1321T:p.T441S exonic ENSG00000100941 NA nonsynonymous SNV ENSG00000100941:ENST00000216832:exon9:c.A1321T:p.T441S Score=553;Name=lod=236 NA 14q21.1 Score=839;Name=V$OCT1_Q6 NA Name=3 NA rs2180792 0.93 0.93 0.94 0.902955 0.9354 0.9435 0.817 0.9342 0.8466 0.93 0.96 0.88 0.93 0.9155 0.96 0.9 T . . . . 0.021 N 0.000 P . . 0.95 T -0.938 T 0.000 T 0.02 -1.351 0.028 3.5 0.460 -0.020 1.101 -1.351371 NA 0.9 0.939419 0.935996 NA 0.957 NA 8.5430144 806 17 48616271 48616271 C T exonic EPN3 NA synonymous SNV EPN3:NM_017957:exon4:c.C708T:p.D236D exonic ENSG00000049283 NA synonymous SNV ENSG00000049283:ENST00000574464:exon3:c.C708T:p.D236D,ENSG00000049283:ENST00000268933:exon4:c.C708T:p.D236D Score=600;Name=lod=365 NA 17q21.33 NA Name=TAF1 Name=3 NA rs72835715 0.02 0.02 0.011 0.0127796 0.0437 NA 0.0144 0.0008 0.0092 0.04 NA 0.02 0.0041 0.0348 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 0.95599 NA NA 0.04593 0.01044 NA 0.051 NA 8.5422366 806 17 43333125 43333125 C T exonic SPATA32 NA nonsynonymous SNV SPATA32:NM_152343:exon4:c.G424A:p.V142M exonic ENSG00000184361 NA nonsynonymous SNV ENSG00000184361:ENST00000331780:exon4:c.G424A:p.V142M,ENSG00000184361:ENST00000543122:exon6:c.G361A:p.V121M NA NA 17q21.31 NA NA NA NA rs11651968 0.33 0.33 0.337 0.311102 0.4245 0.3046 0.4294 0.1104 0.3885 0.42 0.33 0.41 0.14 0.4067 0.46 0.21 T 0.894 P 0.247 B 0.286 N 1.000 P 0.55 N 0.6 T -1.026 T 0.000 T 0.038 1.946 12.47 -3.82 -0.575 -2.742 5.305 1.946359 1.946359 0.49 0.460465 0.152292 NA 0.341 NA 8.5416684 806 10 128974220 128974220 G A exonic FAM196A NA nonsynonymous SNV FAM196A:NM_001039762:exon4:c.C440T:p.A147V exonic ENSG00000188916 NA nonsynonymous SNV ENSG00000188916:ENST00000424811:exon2:c.C440T:p.A147V,ENSG00000188916:ENST00000522781:exon4:c.C440T:p.A147V NA NA 10q26.2 NA NA NA NA rs11594560 0.16 0.16 0.144 0.165735 0.2793 0.0347 0.2133 0.0446 0.3139 0.28 0.02 0.25 0.05 0.2387 0.28 1 T 0.007 B 0.004 B 0.867 N 0.999 P 1.78 L 0.97 T -0.979 T 0.000 T 0.037 -1.931 0.008 2.58 1.180 0.577 6.43 -1.931052 NA NA 0.273837 0.077394 NA 0.152 NA 8.5414964 806 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 806 7 31682453 31682453 C T exonic CCDC129 NA nonsynonymous SNV CCDC129:NM_194300:exon10:c.C1469T:p.A490V,CCDC129:NM_001257968:exon11:c.C1547T:p.A516V,CCDC129:NM_001257967:exon12:c.C1499T:p.A500V exonic ENSG00000180347 NA nonsynonymous SNV ENSG00000180347:ENST00000409210:exon9:c.C1193T:p.A398V,ENSG00000180347:ENST00000319386:exon11:c.C1025T:p.A342V,ENSG00000180347:ENST00000407970:exon11:c.C1469T:p.A490V,ENSG00000180347:ENST00000451887:exon11:c.C1547T:p.A516V NA NA 7p14.3 NA NA NA NA rs4141001 0.76 0.76 0.742 0.728834 0.7475 0.8085 0.7795 0.5696 0.8067 0.75 0.88 0.8 0.59 0.7685 0.88 0.53 T 0.848 P 0.129 B 0.381 N 1.000 P 0.69 N 2.52 T -0.980 T 0.000 T 0.079 -0.313 2.512 2.49 1.394 1.281 6.355 -0.312801 NA 1 0.776279 0.587835 NA 0.623 NA 8.5410544 806 12 10999780 10999780 C T exonic PRR4 NA nonsynonymous SNV PRR4:NM_007244:exon3:c.G287A:p.R96Q exonic ENSG00000111215 NA nonsynonymous SNV ENSG00000111215:ENST00000228811:exon3:c.G287A:p.R96Q NA NA 12p13.2 NA NA NA NA rs1063193 0.54 0.54 0.516 0.521765 0.6252 0.7093 0.621 0.1354 0.6738 0.61 0.71 0.62 0.17 0.5897 0.71 0.89 T 0.006 B 0.001 B 0.789 N 1.000 P 0 N 3.61 T -0.985 T 0.000 T 0.017 0.041 4.225 -3.51 -3.059 -2.213 5.630 0.040567 NA 0.76 0.5792 0.209669 NA 0.493 NA 8.5392334 806 8 133920518 133920518 A G exonic TG NA nonsynonymous SNV TG:NM_003235:exon18:c.A3935G:p.D1312G exonic ENSG00000042832 NA nonsynonymous SNV ENSG00000042832:ENST00000220616:exon18:c.A3935G:p.D1312G,ENSG00000042832:ENST00000377869:exon18:c.A3935G:p.D1312G NA NA 8q24.22 NA NA NA NA rs2069556 0.42 0.42 0.353 0.398762 0.6093 0.3571 0.5836 0.0734 0.5337 0.62 0.35 0.57 0.09 0.5697 0.62 1 T 0.0 B 0.0 B 0.000 N 0.007 P -1.79 N 0.21 T -0.941 T 0.000 T 0.091 -1.491 0.017 5.47 1.325 4.289 10.526 -1.49068 NA 1 0.615116 0.162052 ID=COSM1454960;OCCURENCE=1(large_intestine) 0.37 NA 8.5392174 806 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 806 6 89926962 89926962 T C exonic GABRR1 NA nonsynonymous SNV GABRR1:NM_001256703:exon1:c.A80G:p.H27R,GABRR1:NM_002042:exon1:c.A80G:p.H27R exonic ENSG00000146276 NA nonsynonymous SNV ENSG00000146276:ENST00000435811:exon1:c.A80G:p.H27R,ENSG00000146276:ENST00000454853:exon1:c.A80G:p.H27R,ENSG00000146276:ENST00000457434:exon1:c.A80G:p.H27R Score=554;Name=lod=237 NA 6q15 NA NA NA NA rs1186902 0.23 0.23 0.216 0.230831 0.2644 0.2857 0.3069 0.0711 0.3016 0.27 0.29 0.31 0.07 0.2611 0.31 . . 0.036 B 0.043 B 0.088 N 0.000 P 0.695 N 1.21 T -1.034 T 0.024 T 0.306 1.141 9.648 1.76 0.056 2.229 12.327 1.140726 NA 0.02 0.268953 0.107127 ID=COSM150132;OCCURENCE=1(stomach) 0.188 NA 8.5388804 806 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 806 1 16534646 16534646 C G exonic ARHGEF19 NA nonsynonymous SNV ARHGEF19:NM_153213:exon3:c.G487C:p.G163R exonic ENSG00000142632 NA nonsynonymous SNV ENSG00000142632:ENST00000270747:exon3:c.G487C:p.G163R,ENSG00000142632:ENST00000421561:exon3:c.G487C:p.G163R NA NA 1p36.13 NA Name=AP-2gamma,AP-2alpha NA NA rs221058 0.21 0.21 0.183 0.24401 0.2654 0.1528 0.3948 0.0862 0.4223 0.28 0.13 0.33 0.1 0.27 0.33 0.28 T 0.014 B 0.011 B 0.615 N 0.998 P 0.975 L 0.76 T -0.995 T 0.000 T 0.087 1.46 10.83 2.13 0.220 0.673 6.672 1.459937 1.459937 0 0.259651 0.102814 ID=COSM1335927;OCCURENCE=1(large_intestine) 0.246 NA 8.5382824 806 1 62732421 62732421 T C exonic KANK4 NA nonsynonymous SNV KANK4:NM_181712:exon6:c.A2302G:p.T768A exonic ENSG00000132854 NA nonsynonymous SNV ENSG00000132854:ENST00000371150:exon3:c.A370G:p.T124A,ENSG00000132854:ENST00000354381:exon5:c.A418G:p.T140A,ENSG00000132854:ENST00000371153:exon6:c.A2302G:p.T768A NA NA 1p31.3 NA NA NA NA rs11207949 0.35 0.35 0.32 0.305511 0.2654 0.5873 0.3977 0.2095 0.1207 0.27 0.56 0.37 0.23 0.285 0.56 0.25 T 0.006 B 0.011 B 0.032 N 0.953 P 1.575 L 0.9 T -0.935 T 0.000 T 0.093 -0.113 3.448 3.57 0.867 2.380 12.177 -0.112649 NA 0.62 0.244884 0.222878 NA 0.283 NA 8.5380494 806 20 5904040 5904040 G A exonic CHGB NA nonsynonymous SNV CHGB:NM_001819:exon4:c.G1250A:p.R417H exonic ENSG00000089199 NA nonsynonymous SNV ENSG00000089199:ENST00000378961:exon4:c.G1250A:p.R417H NA NA 20p12.3 NA NA NA NA rs742711 0.24 0.24 0.219 0.23123 0.2584 0.379 0.2334 0.0734 0.2628 0.26 0.36 0.21 0.1 0.2733 0.36 0.67 T 0.013 B 0.002 B 0.061 N 1.000 P 1.15 L 4.53 T -0.903 T 0.000 T 0.039 -0.502 1.7 -10.8 -2.864 -2.806 6.654 -0.501792 NA 0.22 0.264767 0.118248 ID=COSM149135;OCCURENCE=1(stomach) 0.29 NA 8.5368664 806 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 806 19 49878115 49878115 G A exonic DKKL1 NA nonsynonymous SNV DKKL1:NM_001197301:exon4:c.G466A:p.G156S,DKKL1:NM_001197302:exon5:c.G334A:p.G112S,DKKL1:NM_014419:exon5:c.G559A:p.G187S exonic ENSG00000104901 NA nonsynonymous SNV ENSG00000104901:ENST00000594268:exon2:c.G133A:p.G45S,ENSG00000104901:ENST00000597546:exon4:c.G466A:p.G156S,ENSG00000104901:ENST00000221498:exon5:c.G559A:p.G187S,ENSG00000104901:ENST00000596402:exon5:c.G334A:p.G112S,ENSG00000104901:ENST00000597873:exon5:c.G334A:p.G112S NA NA 19q13.33 NA NA NA NA rs1054770 0.27 0.27 0.268 0.316094 0.2406 0.3373 0.2464 0.2844 0.4642 0.24 0.33 0.25 0.26 0.2958 0.37 0.15 T 0.168 B 0.02 B 0.905 N 1.000 P 1.79 L 2.78 T -0.940 T 0.000 T 0.127 1.184 9.816 -3.2 -0.443 -1.471 8.801 1.184396 NA 0.16 0.260758 0.275987 NA 0.341 NA 8.5361754 806 22 42538029 42538029 A G ncRNA_exonic CYP2D7P1 NA NA NA exonic ENSG00000205702 NA unknown UNKNOWN NA NA 22q13.2 Score=818;Name=V$PPARG_03 NA NA NA rs1058167 0.59 0.59 0.532 0.553315 0.661 0.8482 0.6455 0.1331 0.6411 0.67 0.83 0.67 0.13 0.6363 0.83 . . 0.995 D 0.967 D 0.010 N 0.997 P . . . . -1.000 T 0.000 T . 0.038 4.21 1.26 0.570 2.586 3.669 0.037841 NA 0.02 NA NA NA 0.471 NA 8.5360333 806 15 40265799 40265799 A G exonic EIF2AK4 NA nonsynonymous SNV EIF2AK4:NM_001013703:exon11:c.A1667G:p.E556G exonic ENSG00000128829 NA nonsynonymous SNV ENSG00000128829:ENST00000263791:exon11:c.A1667G:p.E556G,ENSG00000128829:ENST00000382727:exon11:c.A1667G:p.E556G,ENSG00000128829:ENST00000559624:exon11:c.A1667G:p.E556G Score=422;Name=lod=69 NA 15q15.1 NA NA NA NA rs2307105 0.86 0.86 0.877 0.844449 0.9463 0.7788 0.6988 0.8971 0.8395 0.95 0.77 0.77 0.9 0.8883 0.96 0.64 T 0.0 B 0.0 B 0.003 N 0.000 P -1.61 N -0.45 T -0.963 T 0.000 T 0.249 2.05 12.81 4.97 1.535 1.363 9.406 2.049686 2.049686 0.63 0.96312 0.898376 NA 0.877 NA 8.5356134 807 17 7849087 7849087 C G exonic CNTROB NA synonymous SNV CNTROB:NM_001037144:exon13:c.C1776G:p.P592P,CNTROB:NM_053051:exon13:c.C1776G:p.P592P exonic ENSG00000170037 NA nonsynonymous SNV ENSG00000170037:ENST00000380255:exon12:c.C1613G:p.P538R NA NA 17p13.1 NA NA NA NA rs4462665 0.58 0.58 0.553 0.63099 0.4493 0.8016 0.67 0.5424 0.7342 0.46 0.74 0.61 0.56 0.5562 0.74 0.32 T . . . . 0.213 N 0.285 P . . 0.87 T -1.049 T 0.000 T . -1.016 0.238 -5.31 -1.742 -1.603 7.964 -1.015843 NA 0 0.459651 0.554471 ID=COSM1387480;OCCURENCE=1(large_intestine) 0.536 NA 8.534849 807 6 146125793 146125793 A T exonic FBXO30 NA nonsynonymous SNV FBXO30:NM_032145:exon2:c.T1749A:p.H583Q exonic ENSG00000118496 NA nonsynonymous SNV ENSG00000118496:ENST00000237281:exon2:c.T1749A:p.H583Q Score=716;Name=lod=1083 NA 6q24.3 Score=885;Name=V$RORA1_01 NA NA NA rs3811102 0.3 0.3 0.305 NA NA NA NA NA NA 0.41 0.26 0.25 0.22 0.3863 0.41 0.11 T 0.001 B 0.007 B 0.000 N 0.002 P 0.895 L 2.29 T -0.979 T 0.010 T 0.088 1.01 9.123 0.452 -0.138 0.282 5.472 1.009522 NA 0.04 0.412421 0.217885 NA 0.29 NA 8.5346124 807 12 55886294 55886294 G A exonic OR6C68 NA nonsynonymous SNV OR6C68:NM_001005519:exon1:c.G133A:p.A45T exonic ENSG00000205327 NA nonsynonymous SNV ENSG00000205327:ENST00000379662:exon1:c.G148A:p.A50T,ENSG00000205327:ENST00000548615:exon1:c.G133A:p.A45T NA NA 12q13.2 NA NA NA NA rs7133698 0.64 0.64 0.602 0.623602 0.5934 0.8135 0.6571 0.5242 0.5695 0.58 0.82 0.66 0.49 0.6086 0.82 1 T 0.002 B 0.001 B 0.576 N 1.000 P -0.235 N 5.36 T -0.973 T 0.000 T 0.037 -1.002 0.257 -6.2 -1.703 -2.592 1.872 -1.002179 NA 1 0.597209 0.543804 NA 0.638 NA 8.5341244 807 20 5903067 5903067 T A exonic CHGB NA nonsynonymous SNV CHGB:NM_001819:exon4:c.T277A:p.S93T exonic ENSG00000089199 NA nonsynonymous SNV ENSG00000089199:ENST00000378961:exon4:c.T277A:p.S93T,ENSG00000089199:ENST00000455042:exon5:c.T217A:p.S73T NA NA 20p12.3 Score=833;Name=V$HEN1_01 NA NA NA rs6085324 0.24 0.24 0.21 0.232628 0.2594 0.379 0.2392 0.0749 0.2628 0.26 0.36 0.22 0.1 0.2748 0.36 0.35 T 0.021 B 0.026 B 0.979 N 1.000 P 1.935 M 4.47 T -0.952 T 0.000 T 0.124 1.173 9.771 0.681 0.081 0.677 3.760 1.172828 NA 0.31 0.265698 0.120291 ID=COSM149134;OCCURENCE=1(stomach),1(large_intestine) 0.29 NA 8.5334354 807 11 108043988 108043988 C T exonic NPAT NA nonsynonymous SNV NPAT:NM_002519:exon13:c.G1723A:p.V575I exonic ENSG00000149308 NA nonsynonymous SNV ENSG00000149308:ENST00000278612:exon13:c.G1723A:p.V575I Score=361;Name=lod=39 NA 11q22.3 NA NA NA NA rs2070661 0.59 0.59 0.565 0.615615 0.6302 0.4554 0.6729 0.652 0.6759 0.62 0.47 0.66 0.63 0.595 0.66 0.93 T 0.0 B 0.0 B 0.010 N 1.000 P -0.805 N 2.12 T -0.944 T 0.000 T 0.037 -1.53 0.016 4.93 0.518 1.311 4.437 -1.529948 NA 0.79 0.575154 0.63385 NA 0.486 NA 8.5329794 807 6 43418328 43418328 G A exonic DLK2 NA synonymous SNV DLK2:NM_023932:exon6:c.C1101T:p.L367L,DLK2:NM_206539:exon6:c.C1101T:p.L367L exonic ENSG00000171462 NA synonymous SNV ENSG00000171462:ENST00000357338:exon6:c.C1101T:p.L367L,ENSG00000171462:ENST00000372485:exon6:c.C1083T:p.L361L,ENSG00000171462:ENST00000372488:exon6:c.C1101T:p.L367L,ENSG00000171462:ENST00000414245:exon6:c.C1083T:p.L361L NA NA 6p21.1 NA NA NA NA rs35056042 0.02 0.02 0.022 0.0203674 0.0507 NA 0.0202 0.0136 0.0194 0.05 NA 0.02 0.01 0.0387 0.05 . . . . . . . . 1.000 D . . . . -0.978 T 0.129 T . 0.451 6.447 3.24 0.507 0.475 8.703 0.450594 NA NA 0.047736 0.01323 NA 0.007 NA 8.5295306 807 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 807 14 39736680 39736680 T C exonic CTAGE5 NA nonsynonymous SNV CTAGE5:NM_001247989:exon1:c.T17C:p.V6A,CTAGE5:NM_005930:exon1:c.T17C:p.V6A,CTAGE5:NM_203355:exon1:c.T17C:p.V6A exonic ENSG00000150527 NA nonsynonymous SNV ENSG00000150527:ENST00000280083:exon1:c.T17C:p.V6A,ENSG00000150527:ENST00000341502:exon1:c.T17C:p.V6A,ENSG00000150527:ENST00000348007:exon1:c.T17C:p.V6A,ENSG00000150527:ENST00000396158:exon1:c.T17C:p.V6A NA NA 14q21.1 Score=971;Name=V$AP2GAMMA_01 Name=Pol2,Pol2(phosphoS2),ELF1_(SC-631),HEY1,Pol2-4H8,TAF1,Sin3Ak-20 Name=148 NA rs7140561 0.94 0.94 0.963 0.91254 0.9404 0.9405 0.8256 0.9531 0.862 0.93 0.97 0.88 0.96 0.9223 0.99 . . 0.0 B 0.0 B . . 1.000 P -1.735 N 3.59 T -1.049 T 0.000 T 0.01 -0.58 1.392 2.55 0.231 0.751 4.750 -0.580497 NA 1 0.941512 0.955288 NA 0.986 NA 8.5291214 807 14 20404614 20404614 C A exonic OR4K1 NA nonsynonymous SNV OR4K1:NM_001004063:exon1:c.C789A:p.S263R exonic ENSG00000155249 NA nonsynonymous SNV ENSG00000155249:ENST00000285600:exon1:c.C789A:p.S263R NA NA 14q11.2 NA NA NA NA rs34608158 0.19 0.19 0.163 0.176917 0.3032 0.128 0.1628 0.0408 0.2914 0.32 0.13 0.2 0.05 0.2384 0.32 0.08 T 0.095 B 0.111 B 0.001 N 1.000 P 1.99 M 8.36 T -1.014 T 0.000 T 0.287 1.52 11.03 2.23 0.731 -0.033 7.372 1.519819 1.519819 0.11 0.263953 0.080118 NA 0.254 NA 8.5277804 807 6 36274153 36274153 C T exonic PNPLA1 NA nonsynonymous SNV PNPLA1:NM_001145716:exon7:c.C1211T:p.T404M,PNPLA1:NM_001145717:exon7:c.C1469T:p.T490M,PNPLA1:NM_173676:exon7:c.C1184T:p.T395M exonic ENSG00000180316 NA nonsynonymous SNV ENSG00000180316:ENST00000312917:exon7:c.C1211T:p.T404M,ENSG00000180316:ENST00000388715:exon7:c.C1184T:p.T395M,ENSG00000180316:ENST00000394571:exon7:c.C1469T:p.T490M,ENSG00000180316:ENST00000457797:exon7:c.C1472T:p.T491M NA NA 6p21.31 NA NA NA NA rs12197079 0.21 0.21 0.227 0.240415 0.2565 0.1032 0.1859 0.3238 0.2914 0.25 0.09 0.2 0.3 0.2631 0.32 0.28 T 0.0 B 0.0 B 0.101 N 1.000 P -0.345 N 1.89 T -1.018 T 0.011 T 0.04 0.983 9.014 -3.36 -0.715 -3.405 6.628 0.983174 NA NA 0.286512 0.317975 NA 0.261 NA 8.5272214 807 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=ELF1_(SC-631),Pol2-4H8,Pol2,JunD,ZNF263,Egr-1,FOSL1_(SC-183),IRF1 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 807 19 11943697 11943697 G A exonic ZNF440 NA nonsynonymous SNV ZNF440:NM_152357:exon4:c.G1706A:p.S569N exonic ENSG00000171295 NA nonsynonymous SNV ENSG00000171295:ENST00000304060:exon4:c.G1706A:p.S569N Score=374;Name=lod=44 NA 19p13.2 NA Name=KAP1,SETDB1 NA NA rs400106 0.97 0.97 0.972 0.973642 0.9364 1 0.9438 0.9962 0.9755 0.94 1 0.92 1 0.9428 1 0.75 T 0.0 B 0.0 B . . 1.000 P -1.515 N 3.65 T -1.051 T 0.000 T 0.005 -1.798 0.009 -0.702 -1.205 -1.593 5.688 -1.797993 NA 1 0.928621 0.987677 NA 0.862 NA 8.5255124 808 20 60904853 60904853 T C exonic LAMA5 NA nonsynonymous SNV LAMA5:NM_005560:exon32:c.A4099G:p.K1367E exonic ENSG00000130702 NA nonsynonymous SNV ENSG00000130702:ENST00000252999:exon32:c.A4099G:p.K1367E Score=518;Name=lod=170 NA 20q13.33 NA Name=Pol2 NA NA rs2427286 0.93 0.93 0.937 0.908746 0.9364 0.9792 0.9611 0.8729 0.819 0.93 0.98 0.96 0.87 0.9227 0.98 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.79 N 2.25 T -0.962 T 0.000 T 0.091 0.54 6.922 4.36 0.850 2.971 12.441 0.539763 NA 1 0.950058 0.892711 NA 0.833 NA 8.5241754 808 11 56185689 56185689 A G exonic OR5R1 NA nonsynonymous SNV OR5R1:NM_001004744:exon1:c.T20C:p.I7T exonic ENSG00000174942 NA nonsynonymous SNV ENSG00000174942:ENST00000312253:exon1:c.T20C:p.I7T NA NA 11q12.1 NA NA NA NA rs7931261 0.28 0.28 0.303 0.282548 0.2664 0.1369 0.1916 0.5386 0.1677 0.27 0.15 0.17 0.51 0.2639 0.51 1 T 0.0 B 0.0 B 0.099 N 1.000 P -2.905 N 4.13 T -0.979 T 0.000 T 0.034 -0.623 1.234 5.7 1.434 0.400 9.712 -0.623366 NA 1 0.279162 0.50159 ID=COSM1127748;OCCURENCE=1(prostate) 0.283 NA 8.5238714 808 19 20044886 20044886 T C exonic ZNF93 NA synonymous SNV ZNF93:NM_031218:exon4:c.T1122C:p.C374C exonic ENSG00000184635 NA synonymous SNV ENSG00000184635:ENST00000343769:exon4:c.T1122C:p.C374C Score=289;Name=lod=20 NA 19p12 NA Name=KAP1,SETDB1 Name=4 NA rs10401345 0.1 0.1 0.101 0.120008 0.0437 0.0506 0.0447 0.2534 0.1431 0.04 0.06 0.05 0.25 0.0667 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.137849 NA NA 0.032674 0.210622 ID=COSM148541;OCCURENCE=1(stomach) 0.08 NA 8.5235926 808 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=TAF1,USF2,CTCF,TBP,YY1_(C-20) 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 808 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 808 1 59247993 59247993 C T exonic JUN NA synonymous SNV JUN:NM_002228:exon1:c.G750A:p.Q250Q exonic ENSG00000177606 NA synonymous SNV ENSG00000177606:ENST00000371222:exon1:c.G750A:p.Q250Q Score=797;Name=lod=2319 NA 1p32.1 NA Name=PU.1 Name=139 NA rs11688 0.09 0.09 0.091 0.0888578 0.0388 0.0238 0.0548 0.2481 0.0164 0.04 0.02 0.05 0.27 0.0575 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791867 NA NA 0.050116 0.198593 NA 0.029 NA 8.5202506 808 15 98995081 98995081 A G exonic FAM169B NA nonsynonymous SNV FAM169B:NM_182562:exon5:c.T343C:p.S115P exonic ENSG00000185087 NA nonsynonymous SNV ENSG00000185087:ENST00000332908:exon3:c.T343C:p.S115P,ENSG00000185087:ENST00000558256:exon5:c.T343C:p.S115P Score=333;Name=lod=30 NA 15q26.3 NA NA NA NA rs12101356 0.92 0.92 0.904 0.914936 0.9433 0.996 0.9625 0.7784 0.953 0.94 0.99 0.96 0.8 0.9328 0.99 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.935 N 2.86 T -0.971 T 0.000 T 0.057 -0.898 0.442 4.69 1.234 6.301 11.970 -0.897916 NA 1 0.937005 0.789826 NA 0.899 NA 8.5202284 808 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 808 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 808 1 177902387 177902387 C A exonic SEC16B NA nonsynonymous SNV SEC16B:NM_033127:exon22:c.G2785T:p.A929S exonic ENSG00000120341 NA nonsynonymous SNV ENSG00000120341:ENST00000308284:exon22:c.G2785T:p.A929S NA NA 1q25.2 NA NA NA NA rs61745560 0.22 0.22 0.225 0.227436 0.2604 0.1052 0.2608 0.2655 0.2444 0.27 0.13 0.26 0.23 0.3201 0.28 0.68 T 0.0 B 0.0 B 0.104 N 1.000 P -1.645 N 2.62 T -0.940 T 0.000 T 0.028 1.005 9.107 2.68 0.287 0.987 4.940 1.005487 NA 0.22 0.233605 0.282961 NA 0.29 NA 8.5192284 808 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 808 17 46262171 46262171 C T exonic SKAP1 NA nonsynonymous SNV SKAP1:NM_001075099:exon7:c.G481A:p.G161S,SKAP1:NM_003726:exon7:c.G481A:p.G161S exonic ENSG00000141293 NA nonsynonymous SNV ENSG00000141293:ENST00000336915:exon7:c.G481A:p.G161S,ENSG00000141293:ENST00000584924:exon7:c.G481A:p.G161S Score=538;Name=lod=205 NA 17q21.32 NA NA NA NA rs2278868 0.59 0.59 0.58 0.607029 0.5885 0.7827 0.6484 0.357 0.7536 0.59 0.78 0.64 0.34 0.6226 0.78 1 T 0.0 B 0.002 B 0.036 N 1.000 P -1.8 N -0.8 T -0.929 T 0.000 T 0.066 0.046 4.255 5.37 0.875 1.837 6.869 0.046397 NA 1 0.603372 0.398094 ID=COSM1179686;OCCURENCE=1(prostate) 0.688 NA 8.5188614 808 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 808 X 153881525 153881525 G C exonic CTAG2 NA nonsynonymous SNV CTAG2:NM_020994:exon1:c.C265G:p.Q89E,CTAG2:NM_172377:exon1:c.C265G:p.Q89E exonic ENSG00000126890 NA nonsynonymous SNV ENSG00000126890:ENST00000247306:exon1:c.C265G:p.Q89E,ENSG00000126890:ENST00000369585:exon1:c.C265G:p.Q89E NA NA Xq28 NA NA NA NA rs17328091 0.45 0.45 0.46343 NA NA NA NA NA NA 0.35 0.22 0.43 0.9 0.4361 0.9 1 T 0.107 B 0.016 B . . 1.000 P -1.67 N 1.68 T -0.963 T 0.000 T 0.036 -3.347 0.001 -3.31 -3.244 -0.469 1.718 -3.34712 NA 0.89 0.379777 0.813838 NA 0.188 NA 8.5174564 808 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=CTCF,E2F6_(H-50),ZBTB7A_(SC-34508),CTCFL_(SC-98982),Rad21 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 808 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 808 3 39373902 39373902 C G exonic CCR8 NA nonsynonymous SNV CCR8:NM_005201:exon2:c.C80G:p.A27G exonic ENSG00000179934 NA nonsynonymous SNV ENSG00000179934:ENST00000326306:exon2:c.C80G:p.A27G,ENSG00000179934:ENST00000414803:exon2:c.C80G:p.A27G,ENSG00000179934:ENST00000545843:exon2:c.C4G:p.R2G NA NA 3p22.2 NA NA NA NA rs2853699 0.16 0.16 0.145 0.129593 0.2982 0.002 0.1628 0.1014 0.1022 0.29 NA 0.2 0.12 0.2154 0.3 0.2 T 0.0 B 0.001 B 0.141 N 1.000 P 0 N 2.09 T -1.034 T 0.000 T 0.032 1.016 9.15 -3.17 -0.487 -1.350 2.32 1.016035 NA 0.29 0.303605 0.144122 NA 0.188 NA 8.5161284 808 12 10587111 10587111 A G exonic KLRC2 NA nonsynonymous SNV KLRC2:NM_002260:exon3:c.T305C:p.F102S exonic ENSG00000205809,ENSG00000255641 NA nonsynonymous SNV ENSG00000205809:ENST00000381902:exon3:c.T305C:p.F102S,ENSG00000205809:ENST00000535069:exon3:c.T224C:p.F75S,ENSG00000255641:ENST00000539033:exon3:c.T305C:p.F102S,ENSG00000205809:ENST00000536833:exon4:c.T128C:p.F43S NA NA 12p13.2 NA NA NA NA rs1141715 0.76 0.76 0.776 NA NA NA NA NA NA 0.83 0.81 0.81 0.58 0.818 0.83 1 T 0.0 B 0.001 B 0.952 N 1.000 P . . 3.66 T -0.985 T 0.000 T 0.044 -2.576 0.003 -3.67 -1.738 -0.328 3.405 -2.576305 NA 1 NA NA NA 0.507 NA 8.5153334 808 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=ELF1_(SC-631),NF-YA,GABP,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 808 14 23745533 23745533 C T exonic HOMEZ NA nonsynonymous SNV HOMEZ:NM_020834:exon2:c.G904A:p.A302T exonic ENSG00000215271 NA nonsynonymous SNV ENSG00000215271:ENST00000357460:exon2:c.G904A:p.A302T,ENSG00000215271:ENST00000431326:exon2:c.G910A:p.A304T,ENSG00000215271:ENST00000561013:exon3:c.G910A:p.A304T Score=295;Name=lod=21 NA 14q11.2 NA NA NA NA rs10131813 0.35 0.35 0.378 NA NA NA NA NA NA 0.38 0.3 0.29 0.39 0.389 0.43 1 T 0.0 B 0.001 B 0.001 N 1.000 P -0.805 N 2.05 T -0.971 T 0.000 T 0.018 -2.212 0.005 -2.58 -0.248 0.194 6.365 -2.212362 NA 1 0.429239 0.379327 ID=COSM432886,COSM147743;OCCURENCE=1(breast),1(stomach) 0.486 NA 8.5150944 809 16 70548297 70548297 G A exonic COG4 NA nonsynonymous SNV COG4:NM_001195139:exon4:c.C485T:p.T162I,COG4:NM_015386:exon4:c.C485T:p.T162I exonic ENSG00000103051 NA nonsynonymous SNV ENSG00000103051:ENST00000323786:exon4:c.C485T:p.T162I,ENSG00000103051:ENST00000393612:exon4:c.C473T:p.T158I,ENSG00000103051:ENST00000482252:exon4:c.C473T:p.T158I,ENSG00000103051:ENST00000534772:exon4:c.C254T:p.T85I,ENSG00000103051:ENST00000564653:exon4:c.C485T:p.T162I Score=722;Name=lod=1142 NA 16q22.1 NA NA NA NA rs3931036 0.96 0.96 0.967 0.959465 0.9314 1 0.8573 0.9977 0.9673 0.93 1 0.9 1 0.9474 1 1 T 0.0 B 0.0 B 0.000 N 0.998 P -2.305 N 0.97 T -0.948 T 0.000 T 0.481 0.807 8.243 5.51 0.929 6.976 11.509 0.807253 NA 1 0.939535 0.987034 NA 0.964 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081731.3;CLNDSDB=.;CLNDSDBID=. 8.5149984 809 7 21779278 21779278 A G exonic DNAH11 NA nonsynonymous SNV DNAH11:NM_001277115:exon48:c.A7901G:p.N2634S exonic ENSG00000105877 NA nonsynonymous SNV ENSG00000105877:ENST00000605912:exon3:c.A461G:p.N154S,ENSG00000105877:ENST00000409508:exon48:c.A7901G:p.N2634S,ENSG00000105877:ENST00000328843:exon49:c.A7922G:p.N2641S Score=355;Name=lod=37 NA 7p15.3 NA NA NA NA rs9639393 0.4 0.4 0.373 0.372804 0.6511 0.0813 0.5159 0.2224 0.4888 0.65 0.1 0.54 0.28 0.5341 0.65 0.64 T . . . . 0.000 N 0.017 P . . 1.15 T -0.975 T 0.000 T 0.026 1.525 11.05 3.33 0.451 4.381 6.095 1.525157 1.525157 0.01 0.633907 0.310246 NA 0.428 NA 8.5142264 809 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 809 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 809 19 40900865 40900865 C T exonic PRX NA nonsynonymous SNV PRX:NM_181882:exon7:c.G3394A:p.G1132R exonic ENSG00000105227 NA nonsynonymous SNV ENSG00000105227:ENST00000324001:exon7:c.G3394A:p.G1132R NA NA 19q13.2 Score=915;Name=V$LMO2COM_01 NA Name=2 NA rs268674 0.96 0.96 0.956 0.965455 0.9384 0.9821 0.9683 0.9947 0.9346 0.93 0.97 0.95 0.99 0.9469 0.99 0.57 T 0.0 B 0.0 B 0.602 N 1.000 P 0.05 N 4.2 T -1.009 T 0.000 T 0.023 -1.517 0.016 3.64 0.285 -0.104 6.691 -1.517125 NA 0.28 0.935698 0.989106 NA 0.942 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118080.2;CLNDSDB=.;CLNDSDBID=. 8.5123354 809 17 650518 650518 G A exonic GEMIN4 NA synonymous SNV GEMIN4:NM_015721:exon2:c.C765T:p.D255D exonic ENSG00000179409 NA nonsynonymous SNV ENSG00000179409:ENST00000437269:exon3:c.C503T:p.T168M NA NA 17p13.3 NA NA NA NA rs35696687 0.08 0.08 0.087 0.0738818 0.1918 0.002 0.0865 0.0098 0.1043 0.19 NA 0.08 0.0041 0.1277 0.19 1 T 0.002 B 0.002 B . . 0.084 P . . 2.92 T -0.980 T 0.000 T . -0.845 0.561 -10.7 -2.233 -4.479 7.923 -0.845209 NA 0.24 0.168894 0.033287 NA 0.065 NA 8.511606 809 17 16325968 16325968 A G exonic TRPV2 NA synonymous SNV TRPV2:NM_016113:exon4:c.A390G:p.G130G exonic ENSG00000187688 NA synonymous SNV ENSG00000187688:ENST00000338560:exon4:c.A390G:p.G130G NA NA 17p11.2 NA NA NA NA rs8121 0.41 0.41 0.392 0.391374 0.3877 0.2321 0.3818 0.6475 0.2198 0.38 0.26 0.42 0.61 0.3766 0.61 . . . . . . . . 0.000 P . . . . -0.918 T 0.000 T . -0.785 0.717 -5.94 -1.326 -1.548 0.438 -0.784796 NA NA 0.391163 0.586927 ID=COSM148201;OCCURENCE=1(stomach) 0.442 NA 8.5112036 809 8 2909992 2909992 G A exonic CSMD1 NA nonsynonymous SNV CSMD1:NM_033225:exon50:c.C7652T:p.T2551M exonic ENSG00000183117 NA nonsynonymous SNV ENSG00000183117:ENST00000537824:exon50:c.C7652T:p.T2551M,ENSG00000183117:ENST00000542608:exon50:c.C7652T:p.T2551M,ENSG00000183117:ENST00000400186:exon51:c.C7655T:p.T2552M,ENSG00000183117:ENST00000520002:exon51:c.C7655T:p.T2552M,ENSG00000183117:ENST00000602557:exon51:c.C7655T:p.T2552M,ENSG00000183117:ENST00000602723:exon51:c.C7655T:p.T2552M NA NA 8p23.2 Score=958;Name=V$USF_C NA NA NA rs6558702 0.74 0.74 0.723 0.692891 0.7863 0.7907 0.6167 0.5756 0.7086 0.8 0.83 0.64 0.62 0.7664 0.83 0.23 T 0.702 P 0.206 B 0.154 N 1.000 P . . -0.26 T -0.979 T 0.000 T 0.204 -0.71 0.939 3.46 0.678 0.961 1.954 -0.710287 NA 0.11 0.769444 0.650178 NA 0.616 NA 8.5111894 809 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 809 5 101724448 101724448 G C exonic SLCO6A1 NA nonsynonymous SNV SLCO6A1:NM_173488:exon12:c.C1961G:p.T654R exonic ENSG00000205359 NA nonsynonymous SNV ENSG00000205359:ENST00000379810:exon7:c.C1202G:p.T401R,ENSG00000205359:ENST00000513675:exon7:c.C1202G:p.T401R,ENSG00000205359:ENST00000389019:exon11:c.C1775G:p.T592R,ENSG00000205359:ENST00000379807:exon12:c.C1961G:p.T654R,ENSG00000205359:ENST00000506729:exon12:c.C1961G:p.T654R NA NA 5q21.1 NA NA NA NA rs10055840 0.22 0.22 0.19 0.204073 0.3022 0.1706 0.1686 0.171 0.2076 0.3 0.17 0.2 0.19 0.2575 0.3 0.56 T 0.027 B 0.089 B 0.038 N 1.000 P 0.075 N 1.27 T -1.092 T 0.000 T 0.094 -1.209 0.068 -10.1 -5.239 -4.032 2.546 -1.208966 NA 0.72 0.265829 0.172876 NA 0.304 NA 8.5078044 809 3 93779860 93779860 C T exonic DHFRL1 NA nonsynonymous SNV DHFRL1:NM_001195643:exon2:c.G496A:p.V166I,DHFRL1:NM_176815:exon2:c.G496A:p.V166I exonic ENSG00000178700 NA nonsynonymous SNV ENSG00000178700:ENST00000314636:exon2:c.G496A:p.V166I,ENSG00000178700:ENST00000394221:exon2:c.G496A:p.V166I,ENSG00000178700:ENST00000461173:exon2:c.G496A:p.V166I Score=677;Name=lod=749 NA 3q11.1 NA NA NA NA rs17855824 0.07 0.07 0.062 0.0772764 0.1103 0.0863 0.0764 0.003 0.135 0.1 0.09 0.09 0.01 0.0974 0.12 0.22 T 0.674 P 0.341 B 0.006 U 0.347 P 1.175 L -0.57 T -1.077 T 0.004 T 0.016 1.201 9.878 0.311 0.106 0.383 3.864 1.200708 NA 0.22 0.117907 0.022242 NA 0.101 NA 8.5077264 809 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 809 22 38240368 38240368 G C ncRNA_exonic MIR658 NA NA NA ncRNA_exonic ENSG00000207945 NA NA NA Score=346;Name=lod=34 NA 22q13.1 Score=871;Name=V$RFX1_02 Name=Pol2-4H8,GABP,RFX5_(N-494),IRF3,TAF1,HEY1,NF-YA,ELF1_(SC-631),HA-E2F1,Pol2,USF-1,Pol2(phosphoS2),E2F6,E2F6_(H-50),PU.1,Egr-1,JunD,c-Myc,IRF1,Mxi1_(bHLH),Sin3Ak-20 Name=148 NA rs141002682 0.03 0.03 0.012 0.0169728 0.0557 NA 0.0187 0.0053 0.0092 0.06 NA 0.02 0.02 0.0601 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.902765 NA NA 0.045149 0.008761 NA NA NA 8.5057176 809 X 71401614 71401614 C A exonic PIN4 NA nonsynonymous SNV PIN4:NM_001170747:exon1:c.C54A:p.S18R,PIN4:NM_006223:exon1:c.C54A:p.S18R exonic ENSG00000102309 NA nonsynonymous SNV ENSG00000102309:ENST00000218432:exon1:c.C54A:p.S18R,ENSG00000102309:ENST00000373662:exon1:c.C54A:p.S18R,ENSG00000102309:ENST00000373669:exon1:c.C54A:p.S18R,ENSG00000102309:ENST00000423432:exon1:c.C54A:p.S18R NA NA Xq13.1 NA Name=HNF4A_(H-171),YY1,TR4,TBP,ELK4,Sin3Ak-20,SP1,IRF1,c-Myc,YY1_(C-20),TCF4,Max,HNF4G_(SC-6558),ELF1_(SC-631),HEY1,Pol2-4H8,IRF3,TAF1,HA-E2F1,Pol2(phosphoS2),Pol2 NA NA rs7058353 0.76 0.76 0.77266 NA NA NA NA NA NA 0.97 0.57 0.82 0.6 0.8649 0.97 0.98 T 0.0 B 0.0 B 0.209 N 1.000 P -0.975 N . . -1.002 T 0.000 T 0.015 1.056 9.313 -4.79 -1.667 -0.809 3.972 1.055996 NA 1 0.963288 0.630508 ID=COSM1469289;OCCURENCE=1(large_intestine) 0.638 NA 8.5051454 810 12 28412372 28412372 G A exonic CCDC91 NA nonsynonymous SNV CCDC91:NM_018318:exon2:c.G106A:p.A36T exonic ENSG00000123106 NA nonsynonymous SNV ENSG00000123106:ENST00000381256:exon2:c.G106A:p.A36T,ENSG00000123106:ENST00000381259:exon2:c.G106A:p.A36T,ENSG00000123106:ENST00000545737:exon2:c.G106A:p.A36T,ENSG00000123106:ENST00000536442:exon3:c.G106A:p.A36T,ENSG00000123106:ENST00000539107:exon3:c.G106A:p.A36T,ENSG00000123106:ENST00000543809:exon3:c.G106A:p.A36T,ENSG00000123106:ENST00000535520:exon4:c.G106A:p.A36T,ENSG00000123106:ENST00000538586:exon4:c.G106A:p.A36T,ENSG00000123106:ENST00000543534:exon5:c.G106A:p.A36T,ENSG00000123106:ENST00000545336:exon6:c.G106A:p.A36T Score=538;Name=lod=204 NA 12p11.22 Score=756;Name=V$STAT5A_02 NA NA NA rs11049488 0.15 0.15 0.154 0.124601 0.2972 0.0427 0.1239 0.0182 0.1759 0.31 0.05 0.14 0.03 0.224 0.31 0.71 T 0.0 B 0.003 B 0.004 N 0.000 P -0.205 N 1.56 T -0.966 T 0.000 T 0.211 0.258 5.392 -0.515 -0.272 -0.115 1.351 0.257578 NA 0.8 0.307164 0.055152 NA 0.145 NA 8.5049694 810 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$OCT1_06 NA NA NA rs6447368 0.46 0.46 0.43 0.440296 0.6014 0.4018 0.5202 0.2897 0.4611 0.59 0.4 0.52 0.29 0.5915 0.64 0.09 T 0.0 B 0.001 B 0.700 N 0.999 P 0 N -0.45 T -0.917 T 0.000 T 0.021 1.072 9.377 2.83 0.412 4.783 7.019 1.072042 NA 0.14 0.635814 0.345665 ID=COSM149668;OCCURENCE=1(stomach) 0.594 NA 8.5046194 810 19 35648365 35648365 T G exonic FXYD5 NA nonsynonymous SNV FXYD5:NM_001164605:exon3:c.T103G:p.S35A,FXYD5:NM_014164:exon3:c.T103G:p.S35A,FXYD5:NM_144779:exon3:c.T103G:p.S35A exonic ENSG00000089327 NA nonsynonymous SNV ENSG00000089327:ENST00000342879:exon2:c.T103G:p.S35A,ENSG00000089327:ENST00000392218:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000392219:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000423817:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000541435:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000543307:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000588699:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000590686:exon3:c.T103G:p.S35A,ENSG00000089327:ENST00000592290:exon3:c.T103G:p.S35A NA NA 19q13.12 NA NA NA NA rs1688005 0.45 0.45 0.439 0.41234 0.2565 0.7976 0.3487 0.3359 0.3241 0.26 0.81 0.38 0.37 0.3215 0.81 0.44 T 0.0 B 0.001 B 0.007 N 1.000 P 0 N 0.86 T -0.959 T 0.000 T 0.018 -0.919 0.4 -4.58 -0.698 -2.286 0.659 -0.91867 NA 0.7 0.251744 0.325465 NA 0.348 NA 8.5035894 810 9 125486968 125486968 G A exonic OR1L4 NA nonsynonymous SNV OR1L4:NM_001005235:exon1:c.G700A:p.G234R exonic ENSG00000136939 NA nonsynonymous SNV ENSG00000136939:ENST00000259466:exon1:c.G700A:p.G234R NA NA 9q33.2 Score=707;Name=V$LUN1_01 NA NA NA rs2215530 0.85 0.85 0.862 0.852835 0.9414 0.9306 0.938 0.6044 0.9571 0.91 0.91 0.94 0.63 0.9252 0.96 0.03 D 0.344 B 0.141 B 0.002 N 1.000 P 2.79 M 8.25 T -0.903 T 0.000 T 0.072 1.517 11.02 2.22 0.391 0.949 9.780 1.516528 1.516528 0.01 0.964302 0.627099 NA 0.768 NA 8.5024314 810 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 810 6 116600810 116600810 G A exonic TSPYL1 NA nonsynonymous SNV TSPYL1:NM_003309:exon1:c.C184T:p.P62S exonic ENSG00000189241 NA nonsynonymous SNV ENSG00000189241:ENST00000368608:exon1:c.C184T:p.P62S NA NA 6q22.1 NA Name=Pol2,E2F6_(H-50),ZEB1_(SC-25388),YY1_(C-20),Pol2(b),YY1,ZNF263 Name=114 NA rs3828743 0.33 0.33 0.287 0.34984 0.2614 0.6319 0.3458 0.0643 0.5389 0.26 0.63 0.32 0.09 0.3238 0.63 0.32 T 0.02 B 0.004 B . . 1.000 P 1.495 L 1.51 T -0.998 T 0.020 T 0.14 1.988 12.61 -1.11 -0.249 -0.197 4.225 1.988214 1.988214 0.09 0.246541 0.078501 NA 0.319 NA 8.5015924 810 17 8076816 8076816 A T UTR3 TMEM107 NM_183065:c.*705T>A,NM_032354:c.*705T>A NA NA ncRNA_exonic ENSG00000200463 NA NA NA Score=487;Name=lod=127 NA 17p13.1 NA Name=SETDB1,Sin3Ak-20,GATA3_(SC-268),FOSL1_(SC-183),THAP1_(SC-98174),RXRA,eGFP-JunD,STAT3,MEF2C_(SC-13268),Mxi1_(bHLH),NRSF,PAX5-C20,GCN5,Max,ZBTB33,YY1_(C-20),Oct-2,BATF,c-Myc,SP1,p300_(N-15),SRF,GR,ZNF263,GTF2F1_(RAP-74),SIRT6,SMC3_(ab9263),CTCFL_(SC-98982),JunD,BHLHE40,eGFP-GATA2,Pol2(b),PAX5-N19,ELK4,Egr-1,TR4,TBP,CCNT2,CEBPB,AP-2alpha,BRCA1_(C-1863),YY1,NANOG_(SC-33759),PU.1,HDAC2_(SC-6296),p300,TCF12,TAF7_(SQ-8),POU2F2,CTCF,GTF2B,FOXA1_(C-20),FOSL2,Pol2,POU5F1_(SC-9081),USF-1,Pol2(phosphoS2),USF1_(SC-8983),GATA2_(CG2-96),FOXA1_(SC-101058),GATA-2,CHD2_(N-1250),ELF1_(SC-631),KAP1,HEY1,HNF4G_(SC-6558),ETS1,Pbx3,E2F1,GATA-1,BCLAF1_(M33-P5B11),TAF1,c-Jun,ZEB1_(SC-25388),RFX5_(N-494),HMGN3,NFKB,BCL3,IRF4_(M-17),BCL11A,MEF2A,eGFP-JunB,Pol2-4H8 Name=147 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004437 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.445366 2.445366 NA NA NA NA NA NA 8.4999556 810 10 33137551 33137551 T C exonic C10orf68 NA nonsynonymous SNV C10orf68:NM_024688:exon19:c.T1529C:p.M510T exonic ENSG00000150076 NA nonsynonymous SNV ENSG00000150076:ENST00000375028:exon18:c.T1541C:p.M514T,ENSG00000150076:ENST00000302316:exon19:c.T1529C:p.M510T,ENSG00000150076:ENST00000375025:exon19:c.T1721C:p.M574T,ENSG00000150076:ENST00000375030:exon20:c.T1406C:p.M469T NA NA 10p11.22 NA NA NA NA rs2504011 0.26 0.26 0.24 0.220447 0.4642 0.0952 0.3141 0.0234 0.2986 0.48 0.1 0.34 0.03 0.3911 0.48 0.27 T 0.612 P 0.181 B . . 1.000 P 1.5 L 1.7 T -0.942 T 0.000 T 0.148 -0.122 3.402 -3.16 -0.623 -1.441 0.751 -0.12207 NA 0.14 0.479133 0.108311 NA 0.217 NA 8.4989004 810 12 49359989 49359989 G A exonic WNT10B NA synonymous SNV WNT10B:NM_003394:exon5:c.C1059T:p.H353H exonic ENSG00000169884 NA synonymous SNV ENSG00000169884:ENST00000301061:exon5:c.C1059T:p.H353H Score=441;Name=lod=83 NA 12q13.12 Score=839;Name=V$GRE_C NA Name=5 Score=109;Name=529671_0_+_109 rs1051886 0.36 0.36 0.321 0.311102 0.4155 0.4494 0.4957 0.1021 0.2127 0.4 0.47 0.45 0.1 0.3705 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.94707 NA NA 0.382442 0.157059 NA 0.232 NA 8.4982246 810 5 36269551 36269551 G C exonic RANBP3L NA nonsynonymous SNV RANBP3L:NM_001161429:exon4:c.C209G:p.T70R,RANBP3L:NM_145000:exon4:c.C209G:p.T70R exonic ENSG00000164188 NA nonsynonymous SNV ENSG00000164188:ENST00000296604:exon4:c.C209G:p.T70R,ENSG00000164188:ENST00000502994:exon4:c.C209G:p.T70R,ENSG00000164188:ENST00000515759:exon4:c.C209G:p.T70R,ENSG00000164188:ENST00000505865:exon5:c.C209G:p.T70R Score=437;Name=lod=80 NA 5p13.2 NA NA NA NA rs1035480 0.8 0.8 0.796 0.80651 0.9573 0.7083 0.8314 0.6536 0.9417 0.96 0.66 0.86 0.68 0.906 0.97 0.85 T 0.0 B 0.0 B 0.002 N 1.000 P -1.905 N 2.15 T -0.971 T 0.000 T 0.258 -0.515 1.645 4.66 1.298 2.210 11.579 -0.51548 NA 0.29 0.97197 0.716523 NA 0.833 NA 8.4980634 810 1 20442054 20442054 T C exonic PLA2G2D NA nonsynonymous SNV PLA2G2D:NM_012400:exon3:c.A238G:p.S80G exonic ENSG00000117215 NA nonsynonymous SNV ENSG00000117215:ENST00000375105:exon3:c.A238G:p.S80G NA NA 1p36.12 NA Name=CTCF Name=4 NA rs584367 0.72 0.72 0.724 0.769369 0.5934 0.7569 0.6974 0.966 0.7485 0.58 0.76 0.67 0.94 0.6607 0.94 0.83 T 0.0 B 0.0 B 0.017 N 1.000 P 0.47 N 1.68 T -0.975 T 0.000 T 0.036 -0.961 0.323 -4.38 -0.914 -0.253 1.181 -0.960936 NA 0.48 0.582209 0.903087 NA 0.761 NA 8.4970244 810 3 195518330 195518330 C G exonic MUC4 NA nonsynonymous SNV MUC4:NM_018406:exon2:c.G121C:p.A41P exonic ENSG00000145113 NA nonsynonymous SNV ENSG00000145113:ENST00000462323:exon2:c.G121C:p.A41P,ENSG00000145113:ENST00000463781:exon2:c.G121C:p.A41P,ENSG00000145113:ENST00000466475:exon2:c.G121C:p.A41P,ENSG00000145113:ENST00000470451:exon2:c.G121C:p.A41P,ENSG00000145113:ENST00000475231:exon2:c.G121C:p.A41P,ENSG00000145113:ENST00000477086:exon2:c.G121C:p.A41P,ENSG00000145113:ENST00000477756:exon2:c.G121C:p.A41P,ENSG00000145113:ENST00000478156:exon2:c.G121C:p.A41P,ENSG00000145113:ENST00000479406:exon2:c.G121C:p.A41P,ENSG00000145113:ENST00000480843:exon2:c.G121C:p.A41P NA NA 3q29 NA NA NA NA rs3107764 0.54 0.54 0.528 0.504593 0.6362 0.756 0.5245 0.2073 0.498 0.63 0.71 0.51 0.24 0.5769 0.71 0.75 T 0.006 B 0.001 B 0.118 U 1.000 P 0 N 0.82 T -1.049 T 0.000 T 0.152 -0.855 0.537 -5.93 -5.091 -2.803 0.744 -0.855433 NA 0.31 0.623558 0.281999 NA 0.587 NA 8.4966754 810 18 2547500 2547500 G T exonic METTL4 NA nonsynonymous SNV METTL4:NM_022840:exon6:c.C928A:p.Q310K exonic ENSG00000101574 NA nonsynonymous SNV ENSG00000101574:ENST00000319888:exon6:c.C928A:p.Q310K,ENSG00000101574:ENST00000574538:exon6:c.C928A:p.Q310K Score=426;Name=lod=72 NA 18p11.32 NA NA NA NA rs2677879 0.58 0.58 0.602 0.593051 0.6292 0.3462 0.4841 0.8094 0.5951 0.64 0.35 0.55 0.79 0.5865 0.79 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.825 N 1.01 T -0.905 T 0.000 T 0.287 1.506 10.98 3.08 0.109 2.867 14.154 1.505748 1.505748 NA 0.621395 0.794144 NA 0.587 NA 8.4962384 810 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 811 9 113234507 113234507 T C exonic SVEP1 NA nonsynonymous SNV SVEP1:NM_153366:exon15:c.A2696G:p.K899R exonic ENSG00000165124 NA nonsynonymous SNV ENSG00000165124:ENST00000302728:exon15:c.A2696G:p.K899R,ENSG00000165124:ENST00000374469:exon15:c.A2627G:p.K876R,ENSG00000165124:ENST00000401783:exon15:c.A2696G:p.K899R NA NA 9q31.3 NA NA NA NA rs10817025 0.19 0.19 0.188 0.199081 0.2893 0.0754 0.2147 0.1354 0.3088 0.29 0.06 0.24 0.15 0.2493 0.3 0.64 T 0.0 B 0.0 B 0.012 N 1.000 P -1.39 N -1.01 T -1.064 T 0.000 T 0.018 -1.676 0.012 4.15 1.247 0.716 7.173 -1.676236 NA 0.9 0.300916 0.165128 NA 0.239 NA 8.4938174 811 17 8243661 8243661 G A exonic ODF4 NA nonsynonymous SNV ODF4:NM_153007:exon1:c.G292A:p.V98M exonic ENSG00000184650 NA nonsynonymous SNV ENSG00000184650:ENST00000328248:exon1:c.G292A:p.V98M Score=313;Name=lod=25 NA 17p13.1 NA NA NA NA rs12601097 0.56 0.56 0.583 0.538938 0.6223 0.3214 0.647 0.6528 0.4468 0.63 0.35 0.64 0.63 0.5915 0.65 1 T 0.0 B 0.0 B 0.007 N 0.000 P -1.65 N 2.02 T -0.943 T 0.000 T 0.041 -1.573 0.014 4.89 0.887 1.035 7.368 -1.573078 NA NA 0.626163 0.6532 ID=COSM148189;OCCURENCE=1(stomach) 0.587 NA 8.4933704 811 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 811 4 71232388 71232388 G A exonic SMR3A NA nonsynonymous SNV SMR3A:NM_012390:exon3:c.G82A:p.G28R exonic ENSG00000109208 NA nonsynonymous SNV ENSG00000109208:ENST00000226460:exon3:c.G82A:p.G28R NA NA 4q13.3 NA NA NA NA rs10031844 0.26 0.26 0.227 0.295927 0.2654 0.4177 0.2594 0.1188 0.4673 0.27 0.4 0.26 0.1 0.2938 0.4 0.32 T 0.001 B 0.003 B . . 1.000 P 0.22 N 1.57 T -0.913 T 0.000 T 0.046 0.144 4.776 -5.14 -1.494 -0.813 7.339 0.144329 NA 0.49 0.282442 0.135951 NA 0.174 NA 8.4916914 811 7 7571094 7571094 G C exonic COL28A1 NA nonsynonymous SNV COL28A1:NM_001037763:exon3:c.C566G:p.A189G exonic ENSG00000215018 NA nonsynonymous SNV ENSG00000215018:ENST00000399429:exon3:c.C566G:p.A189G Score=456;Name=lod=95 NA 7p21.3 NA NA NA NA rs7804532 0.96 0.96 0.95 0.953874 0.9433 0.999 0.9625 0.907 0.9755 0.95 1 0.96 0.91 0.9486 1 1 T 0.0 B 0.0 B 0.005 N 0.996 P -1.78 N -0.56 T -0.931 T 0.000 T 0.159 -0.99 0.276 4.2 1.149 3.422 14.147 -0.98978 NA 1 0.949829 0.910388 NA 0.986 NA 8.4916044 811 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 811 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 811 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 811 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 811 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 811 11 35222681 35222681 C T exonic CD44 NA synonymous SNV CD44:NM_001001389:exon7:c.C846T:p.T282T,CD44:NM_000610:exon8:c.C975T:p.T325T exonic ENSG00000026508 NA synonymous SNV ENSG00000026508:ENST00000415148:exon7:c.C846T:p.T282T,ENSG00000026508:ENST00000428726:exon8:c.C975T:p.T325T,ENSG00000026508:ENST00000433354:exon8:c.C975T:p.T325T,ENSG00000026508:ENST00000437706:exon8:c.C975T:p.T325T,ENSG00000026508:ENST00000449691:exon8:c.C975T:p.T325T NA NA 11p13 NA NA NA NA rs35356320 0.04 0.04 0.036 0.0273562 0.0686 NA 0.049 0.0166 0.0123 0.08 NA 0.05 0.02 0.0494 0.08 . . . . . . . . 1.000 N . . . . -1.022 T 0.003 T . -0.043 3.793 -5.96 -0.939 -2.207 4.476 -0.043357 NA NA 0.058632 0.02248 NA 0.007 NA 8.4900346 811 3 164783165 164783165 T C exonic SI NA nonsynonymous SNV SI:NM_001041:exon7:c.A691G:p.T231A exonic ENSG00000090402 NA nonsynonymous SNV ENSG00000090402:ENST00000264382:exon7:c.A691G:p.T231A Score=552;Name=lod=233 NA 3q26.1 NA NA NA NA rs9283633 0.64 0.64 0.64 0.616014 0.6312 0.8323 0.621 0.4622 0.5818 0.64 0.84 0.59 0.44 0.6135 0.84 0.12 T 0.004 B 0.008 B 0.001 N 0.906 P 1.665 L -2.23 D -0.963 T 0.000 T 0.028 1.468 10.86 1.05 0.164 0.966 8.956 1.468408 1.468408 0.3 0.598837 0.478892 NA 0.254 NA 8.4897964 811 12 49427919 49427919 T C exonic MLL2 NA synonymous SNV MLL2:NM_003482:exon38:c.A10671G:p.P3557P exonic ENSG00000167548 NA synonymous SNV ENSG00000167548:ENST00000301067:exon38:c.A10671G:p.P3557P Score=752;Name=lod=1511 NA 12q13.12 Score=959;Name=V$STAT_01 NA NA NA rs61942218 0.03 0.03 0.033 0.0223642 0.0646 NA 0.0447 0.003 0.0123 0.06 NA 0.03 0.01 0.045 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 0.470893 NA NA 0.067351 0.013263 NA 0.007 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080101.1;CLNDSDB=.;CLNDSDBID=. 8.4897156 811 2 242757820 242757820 G A exonic NEU4 NA nonsynonymous SNV NEU4:NM_001167599:exon4:c.G940A:p.G314R,NEU4:NM_001167600:exon4:c.G901A:p.G301R,NEU4:NM_001167601:exon4:c.G901A:p.G301R,NEU4:NM_080741:exon4:c.G937A:p.G313R,NEU4:NM_001167602:exon5:c.G901A:p.G301R exonic ENSG00000204099 NA nonsynonymous SNV ENSG00000204099:ENST00000325935:exon4:c.G940A:p.G314R,ENSG00000204099:ENST00000404257:exon4:c.G937A:p.G313R,ENSG00000204099:ENST00000405370:exon4:c.G901A:p.G301R,ENSG00000204099:ENST00000407683:exon4:c.G901A:p.G301R,ENSG00000204099:ENST00000391969:exon5:c.G901A:p.G301R NA NA 2q37.3 NA NA NA NA rs11545301 0.24 0.24 0.246 0.242212 0.2783 0.1002 0.2176 0.2988 0.2924 0.3 0.11 0.25 0.31 0.2851 0.31 0.74 T 0.001 B 0.001 B 0.283 N 1.000 P 0.55 N -0.92 T -1.102 T 0.000 T 0.046 -0.487 1.76 -3.25 -0.372 -0.972 5.018 -0.486996 NA 0.63 0.281122 0.276769 NA 0.254 NA 8.4888114 811 1 211848807 211848807 A C exonic NEK2 NA synonymous SNV NEK2:NM_001204182:exon1:c.T15G:p.A5A,NEK2:NM_001204183:exon1:c.T15G:p.A5A,NEK2:NM_002497:exon1:c.T15G:p.A5A exonic ENSG00000117650 NA synonymous SNV ENSG00000117650:ENST00000366998:exon1:c.T15G:p.A5A,ENSG00000117650:ENST00000366999:exon1:c.T15G:p.A5A Score=508;Name=lod=155 NA 1q32.3 NA Name=AP-2alpha,Pol2(b),AP-2gamma,Sin3Ak-20,TAF1,HEY1,Pol2,Ini1 Name=3 NA rs55635245 0.04 0.04 0.031 0.0323482 0.0636 NA 0.1066 0.0015 0.0225 0.07 NA 0.12 0.002 0.0544 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 2.176141 2.176141 NA 0.061628 0.01566 NA 0.065 NA 8.4870386 811 4 62800728 62800728 T C exonic LPHN3 NA synonymous SNV LPHN3:NM_015236:exon11:c.T2079C:p.N693N exonic ENSG00000150471 NA synonymous SNV ENSG00000150471:ENST00000504896:exon11:c.T2079C:p.N693N,ENSG00000150471:ENST00000506700:exon11:c.T2079C:p.N693N,ENSG00000150471:ENST00000508946:exon11:c.T2079C:p.N693N,ENSG00000150471:ENST00000514157:exon11:c.T2079C:p.N693N,ENSG00000150471:ENST00000514996:exon11:c.T2079C:p.N693N,ENSG00000150471:ENST00000545650:exon11:c.T2079C:p.N693N,ENSG00000150471:ENST00000506720:exon12:c.T2283C:p.N761N,ENSG00000150471:ENST00000506746:exon12:c.T2283C:p.N761N,ENSG00000150471:ENST00000507164:exon12:c.T2283C:p.N761N,ENSG00000150471:ENST00000507625:exon12:c.T2283C:p.N761N,ENSG00000150471:ENST00000508693:exon12:c.T2283C:p.N761N,ENSG00000150471:ENST00000509896:exon12:c.T2283C:p.N761N,ENSG00000150471:ENST00000511324:exon12:c.T2283C:p.N761N,ENSG00000150471:ENST00000512091:exon13:c.T2079C:p.N693N,ENSG00000150471:ENST00000514591:exon13:c.T2079C:p.N693N Score=668;Name=lod=690 NA 4q13.1 Score=835;Name=V$MRF2_01 NA NA NA rs734644 0.69 0.69 0.689 0.679912 0.7276 0.5933 0.6153 0.7988 0.6053 0.72 0.57 0.63 0.82 0.7025 0.82 . . . . . . . . 0.000 P . . . . -1.035 T 0.000 T . 0.098 4.53 4.69 0.895 1.626 9.924 0.098427 NA NA 0.75 0.796796 NA 0.659 NA 8.4865666 811 17 48557348 48557348 T C exonic RSAD1 NA nonsynonymous SNV RSAD1:NM_018346:exon3:c.T377C:p.L126S exonic ENSG00000136444 NA nonsynonymous SNV ENSG00000136444:ENST00000258955:exon3:c.T377C:p.L126S NA NA 17q21.33 NA NA NA NA rs2290861 0.58 0.58 0.61 0.584665 0.6272 0.2222 0.5807 0.9107 0.4765 0.62 0.22 0.64 0.91 0.5926 0.91 0.39 T 0.0 B 0.002 B 0.002 N 1.000 P 0.865 L -1.45 T -0.980 T 0.000 T 0.026 2.657 14.85 4.64 1.182 4.393 12.736 2.657426 2.657426 0.1 0.626977 0.86768 NA 0.616 NA 8.4865564 811 11 55587914 55587914 A G exonic OR5D18 NA nonsynonymous SNV OR5D18:NM_001001952:exon1:c.A809G:p.H270R exonic ENSG00000186119 NA nonsynonymous SNV ENSG00000186119:ENST00000333976:exon1:c.A809G:p.H270R NA NA 11q11 NA NA NA NA rs55832853 0.26 0.26 0.231 0.233027 0.2903 0.3889 0.3228 0.0204 0.2372 0.29 0.37 0.35 0.03 0.281 0.37 0.03 D 0.004 B 0.021 B 0.022 N 1.000 P 0.295 N 8.83 T -1.012 T 0.000 T 0.077 -1.267 0.046 2.44 0.236 0.454 5.983 -1.267286 NA 0.55 0.275605 0.065455 NA 0.203 NA 8.4864284 811 2 112751928 112751928 G A exonic MERTK NA nonsynonymous SNV MERTK:NM_006343:exon9:c.G1397A:p.R466K exonic ENSG00000153208 NA nonsynonymous SNV ENSG00000153208:ENST00000409780:exon8:c.G869A:p.R290K,ENSG00000153208:ENST00000295408:exon9:c.G1397A:p.R466K,ENSG00000153208:ENST00000421804:exon9:c.G1397A:p.R466K NA NA 2q13 Score=709;Name=V$HOX13_01 NA NA NA rs7604639 0.52 0.52 0.495 0.561502 0.6243 0.2758 0.6037 0.6664 0.6196 0.62 0.22 0.6 0.65 0.5972 0.65 1 T 0.0 B 0.0 B 0.060 N 1.000 P -0.54 N 0.65 T -0.967 T 0.000 T 0.04 -1.237 0.056 -3.17 -0.861 -1.465 12.562 -1.237453 NA 0.97 0.626512 0.648661 NA 0.659 NA 8.4853214 812 1 93646418 93646418 C T UTR5 CCDC18 NM_206886:c.-2501C>T NA NA exonic ENSG00000122483 NA nonsynonymous SNV ENSG00000122483:ENST00000557479:exon1:c.C331T:p.L111F NA NA 1p22.1 NA Name=Pol2-4H8,HEY1,Pol2(phosphoS2),Pol2,CHD2_(N-1250),E2F4,Sin3Ak-20 NA NA rs10874763 0.15 0.15 0.137 0.117812 0.325 0.001 0.1916 0.0106 0.1176 0.32 0.0035 0.22 0.01 0.2274 0.32 0.16 T 0.0 B 0.001 B . . 1.000 P . . . . -1.000 T 0.020 T 0.077 2.944 15.81 -6.78 -1.024 -0.870 3.373 2.944317 2.944317 0 0.296243 0.057511 NA 0.232 NA 8.4846904 812 9 139840543 139840543 A G exonic C8G NA nonsynonymous SNV C8G:NM_000606:exon4:c.A353G:p.D118G exonic ENSG00000176919 NA nonsynonymous SNV ENSG00000176919:ENST00000224181:exon4:c.A353G:p.D118G,ENSG00000176919:ENST00000371634:exon4:c.A353G:p.D118G NA NA 9q34.3 NA Name=USF-1 NA NA rs7850844 0.96 0.96 0.966 0.967252 0.9394 1 0.9726 0.9493 0.9826 0.94 1 0.96 0.93 0.962 1 0.52 T 0.0 B 0.0 B 0.044 N 1.000 P -2.295 N 2.75 T -0.957 T 0.000 T 0.026 0.356 5.93 4.15 1.097 1.809 11.232 0.35556 NA 0.79 0.947301 0.960191 NA 0.964 NA 8.4846324 812 6 46803018 46803018 A T exonic MEP1A NA nonsynonymous SNV MEP1A:NM_005588:exon13:c.A1816T:p.T606S exonic ENSG00000112818 NA nonsynonymous SNV ENSG00000112818:ENST00000230588:exon13:c.A1816T:p.T606S NA NA 6p12.3 NA NA NA NA rs2297020 0.33 0.33 0.304 0.323682 0.2515 0.2718 0.2954 0.4228 0.3374 0.27 0.29 0.29 0.48 0.3509 0.48 0.13 T 0.126 B 0.034 B 0.150 N 1.000 P 0.69 N 1.88 T -1.061 T 0.014 T 0.033 2.304 13.66 -10.4 -1.862 -1.015 12.198 2.303849 2.303849 0.13 0.246567 0.392371 NA 0.246 NA 8.4843664 812 1 44083507 44083507 T C exonic PTPRF NA synonymous SNV PTPRF:NM_130440:exon24:c.T4269C:p.G1423G,PTPRF:NM_002840:exon25:c.T4296C:p.G1432G exonic ENSG00000142949 NA synonymous SNV ENSG00000142949:ENST00000372407:exon13:c.T1512C:p.G504G,ENSG00000142949:ENST00000422171:exon16:c.T2373C:p.G791G,ENSG00000142949:ENST00000372413:exon22:c.T4269C:p.G1423G,ENSG00000142949:ENST00000372414:exon23:c.T4296C:p.G1432G,ENSG00000142949:ENST00000438120:exon24:c.T4269C:p.G1423G,ENSG00000142949:ENST00000359947:exon25:c.T4296C:p.G1432G NA NA 1p34.2 Score=780;Name=V$MEF2_01 NA NA NA rs641365 0.77 0.77 0.784 0.73722 0.7157 0.7649 0.5764 0.9455 0.5634 0.72 0.74 0.66 0.93 0.7188 0.93 . . . . . . . . 0.000 P . . . . -1.096 T 0.000 T . 1.098 9.479 -7.06 -1.781 -4.012 13.398 1.097554 NA NA 0.747907 0.916931 NA 0.812 NA 8.4842596 812 19 9056941 9056941 A G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.T30505C:p.F10169L exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.T30505C:p.F10169L NA NA 19p13.2 Score=837;Name=V$HAND1E47_01 NA NA NA rs10410136 0.19 0.19 0.178 0.19369 0.2823 0.0258 0.2666 0.1762 0.2474 0.29 0.02 0.26 0.18 0.2648 0.3 0 D 0.006 B 0.002 B . . . . -0.975 N 4.29 T -0.930 T 0.000 T 0.038 0.945 8.852 -0.497 -0.091 0.150 5.587 0.944925 NA 0.6 0.302194 0.181748 NA 0.254 NA 8.4840394 812 19 9063678 9063678 T G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A23768C:p.D7923A exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A23768C:p.D7923A NA NA 19p13.2 NA NA NA NA rs2547064 0.22 0.22 0.201 0.210064 0.3101 0.249 0.2003 0.0628 0.273 0.31 0.21 0.23 0.1 0.2524 0.31 0 D 0.197 B 0.047 B . . . . . . 2.02 T -0.946 T 0.000 T 0.043 -0.319 2.485 0.103 -0.045 -2.154 4.640 -0.318782 NA 0.57 0.287922 0.102977 ID=COSM148484,COSM148482,COSM148483;OCCURENCE=1(stomach) 0.188 NA 8.4829114 812 3 111981878 111981878 T C exonic SLC9C1 NA nonsynonymous SNV SLC9C1:NM_183061:exon10:c.A1090G:p.I364V exonic ENSG00000172139 NA nonsynonymous SNV ENSG00000172139:ENST00000487372:exon9:c.A946G:p.I316V,ENSG00000172139:ENST00000305815:exon10:c.A1090G:p.I364V Score=498;Name=lod=141 NA 3q13.2 NA NA NA NA rs9809384 0.64 0.64 0.635 0.642971 0.5964 0.7738 0.7118 0.4849 0.7209 0.61 0.8 0.67 0.5 0.636 0.8 0.25 T 0.0 B 0.0 B 0.005 N 1.000 P 0 N 2.52 T -1.066 T 0.000 T 0.013 0.949 8.87 4.91 0.806 1.712 9.635 0.949112 NA 0.46 0.619535 0.503177 NA 0.623 NA 8.4813984 812 3 111981924 111981924 T C exonic SLC9C1 NA nonsynonymous SNV SLC9C1:NM_183061:exon10:c.A1044G:p.I348M exonic ENSG00000172139 NA nonsynonymous SNV ENSG00000172139:ENST00000487372:exon9:c.A900G:p.I300M,ENSG00000172139:ENST00000305815:exon10:c.A1044G:p.I348M Score=374;Name=lod=44 NA 3q13.2 Score=834;Name=V$CHX10_01 NA NA NA rs9809404 0.64 0.64 0.621 0.642971 0.5964 0.7738 0.7118 0.4849 0.7209 0.61 0.8 0.67 0.5 0.6359 0.8 0.4 T 0.0 B 0.001 B 0.050 N 1.000 P -1.04 N 2.34 T -1.061 T 0.000 T 0.065 -0.628 1.218 2.95 0.086 0.609 7.921 -0.62782 NA 0.82 0.619651 0.503177 NA 0.616 NA 8.4813824 812 1 204230581 204230581 G A intronic PLEKHA6 NA NA NA exonic ENSG00000143850 NA nonsynonymous SNV ENSG00000143850:ENST00000414478:exon7:c.C437T:p.P146L Score=472;Name=lod=110 NA 1q32.1 NA NA NA NA rs3795569 0.62 0.62 0.585 0.597644 0.5268 0.8095 0.696 0.5068 0.5051 0.53 0.79 0.68 0.51 0.6058 0.79 0.3 T . . . . 0.005 N 0.000 P . . 3.42 T -1.147 T 0.000 T 0.113 1.862 12.18 4.64 2.601 3.794 9.986 1.862058 1.862058 0.17 0.552791 0.564911 NA 0.551 NA 8.4812757 812 3 111799845 111799845 A T exonic TMPRSS7 NA nonsynonymous SNV TMPRSS7:NM_001042575:exon16:c.A2068T:p.S690C exonic ENSG00000176040 NA nonsynonymous SNV ENSG00000176040:ENST00000419127:exon16:c.A2068T:p.S690C,ENSG00000176040:ENST00000452346:exon18:c.A2446T:p.S816C Score=680;Name=lod=776 NA 3q13.2 NA NA NA NA rs340151 0.91 0.91 0.91 0.909944 0.9523 0.9861 0.9308 0.7617 0.9734 0.96 0.99 0.93 0.74 0.9442 0.99 1 T 0.0 B 0.0 B 0.000 N 0.999 P -3.615 N 0.75 T -0.939 T 0.000 T 0.245 0.778 8.109 5.75 1.016 5.584 11.529 0.778394 NA 1 0.955995 0.79625 NA 0.87 NA 8.4808384 812 10 112641053 112641053 A G exonic PDCD4 NA nonsynonymous SNV PDCD4:NM_001199492:exon3:c.A64G:p.I22V,PDCD4:NM_014456:exon3:c.A106G:p.I36V,PDCD4:NM_145341:exon4:c.A73G:p.I25V exonic ENSG00000150593 NA nonsynonymous SNV ENSG00000150593:ENST00000280154:exon3:c.A106G:p.I36V,ENSG00000150593:ENST00000444997:exon3:c.A64G:p.I22V,ENSG00000150593:ENST00000393104:exon4:c.A73G:p.I25V Score=614;Name=lod=419 NA 10q25.2 Score=890;Name=V$HFH1_01 NA NA NA rs7081726 0.94 0.94 0.928 0.91853 0.9523 0.9901 0.9654 0.8389 0.8845 0.95 1 0.96 0.85 0.9454 1 0.35 T 0.0 B 0.0 B 0.014 N 0.869 P 0.2 N 1.6 T -0.902 T 0.000 T 0.021 -0.409 2.089 5.63 2.261 0.814 7.790 -0.408818 NA 0.93 0.955 0.852474 NA 0.949 NA 8.4806334 812 8 120596023 120596023 A G exonic ENPP2 NA nonsynonymous SNV ENPP2:NM_001040092:exon17:c.T1477C:p.S493P,ENPP2:NM_001130863:exon17:c.T1477C:p.S493P,ENPP2:NM_006209:exon18:c.T1633C:p.S545P exonic ENSG00000136960 NA nonsynonymous SNV ENSG00000136960:ENST00000522167:exon6:c.T394C:p.S132P,ENSG00000136960:ENST00000075322:exon17:c.T1477C:p.S493P,ENSG00000136960:ENST00000427067:exon17:c.T1465C:p.S489P,ENSG00000136960:ENST00000522826:exon17:c.T1477C:p.S493P,ENSG00000136960:ENST00000259486:exon18:c.T1633C:p.S545P Score=645;Name=lod=558 NA 8q24.12 NA NA NA NA rs10283100 0.97 0.97 0.974 0.983427 0.9463 1 0.9726 0.997 0.9939 0.95 1 0.97 0.99 0.957 1 1 T 0.0 B 0.0 B 0.000 N 0.984 P -2.61 N -0.25 T -0.930 T 0.000 T 0.219 0.806 8.239 5.54 1.359 8.030 14.626 0.806371 NA 1 0.950698 0.988198 NA 0.986 NA 8.4793354 812 12 25656706 25656706 T C exonic IFLTD1 NA synonymous SNV IFLTD1:NM_001145727:exon7:c.A966G:p.S322S,IFLTD1:NM_001145729:exon8:c.A1098G:p.S366S,IFLTD1:NM_152590:exon8:c.A1155G:p.S385S,IFLTD1:NM_001145728:exon9:c.A1218G:p.S406S,IFLTD1:NM_001256266:exon9:c.A864G:p.S288S exonic ENSG00000152936 NA synonymous SNV ENSG00000152936:ENST00000539523:exon3:c.A306G:p.S102S,ENSG00000152936:ENST00000445693:exon7:c.A966G:p.S322S,ENSG00000152936:ENST00000282881:exon8:c.A1155G:p.S385S,ENSG00000152936:ENST00000413632:exon8:c.A1098G:p.S366S,ENSG00000152936:ENST00000458174:exon9:c.A1218G:p.S406S,ENSG00000152936:ENST00000539744:exon9:c.A864G:p.S288S NA NA 12p12.1 NA NA NA NA rs78120781 0.04 0.04 0.035 0.0317492 0.0785 0.002 0.0476 0.0023 0.0429 0.08 NA 0.07 0.0041 0.0476 0.08 . . . . . . . . 1.000 N . . . . -1.091 T 0.006 T . -0.288 2.623 2.73 0.630 1.488 7.324 -0.28804 NA NA 0.062209 0.011807 NA 0.007 NA 8.4783576 812 6 109770869 109770869 G A exonic MICAL1 NA synonymous SNV MICAL1:NM_001159291:exon9:c.C1167T:p.T389T,MICAL1:NM_022765:exon10:c.C1425T:p.T475T exonic ENSG00000135596 NA synonymous SNV ENSG00000135596:ENST00000358577:exon9:c.C1167T:p.T389T,ENSG00000135596:ENST00000358807:exon10:c.C1425T:p.T475T,ENSG00000135596:ENST00000368952:exon10:c.C1482T:p.T494T Score=559;Name=lod=250 NA 6q21 NA NA NA NA rs752261 0.05 0.05 0.019 0.038738 0.0557 NA 0.1715 0.003 0.0153 0.06 NA 0.15 0.01 0.0703 0.15 . . . . . . . . 0.000 P . . . . -1.011 T 0.032 T . 1.207 9.9 -2.38 -0.268 -0.905 5.391 1.206611 NA NA 0.063372 0.01498 NA 0.036 NA 8.4772946 812 21 19756040 19756040 C G exonic TMPRSS15 NA nonsynonymous SNV TMPRSS15:NM_002772:exon4:c.G400C:p.E134Q exonic ENSG00000154646 NA nonsynonymous SNV ENSG00000154646:ENST00000284885:exon4:c.G400C:p.E134Q,ENSG00000154646:ENST00000422787:exon4:c.G265C:p.E89Q Score=583;Name=lod=313 NA 21q21.1 NA NA NA NA rs2824790 0.24 0.24 0.229 0.225639 0.3101 0.0883 0.2925 0.2489 0.2014 0.31 0.09 0.31 0.25 0.2598 0.31 . . 0.906 P 0.567 P 0.043 N 0.998 P 1.245 L 1.11 T -0.997 T 0.000 T 0.162 2.456 14.17 1.98 0.092 0.872 8.051 2.456114 2.456114 0.1 0.286279 0.241716 NA 0.188 NA 8.4771544 812 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 812 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 812 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 812 9 73150873 73150873 T G exonic TRPM3 NA nonsynonymous SNV TRPM3:NM_206944:exon24:c.A4631C:p.N1544T,TRPM3:NM_001007471:exon25:c.A5120C:p.N1707T,TRPM3:NM_020952:exon25:c.A4661C:p.N1554T,TRPM3:NM_206945:exon25:c.A4667C:p.N1556T,TRPM3:NM_206947:exon25:c.A4706C:p.N1569T,TRPM3:NM_024971:exon26:c.A4697C:p.N1566T,TRPM3:NM_206946:exon26:c.A4736C:p.N1579T exonic ENSG00000083067 NA nonsynonymous SNV ENSG00000083067:ENST00000358082:exon23:c.A4706C:p.N1569T,ENSG00000083067:ENST00000396280:exon23:c.A4667C:p.N1556T,ENSG00000083067:ENST00000396285:exon23:c.A4697C:p.N1566T,ENSG00000083067:ENST00000396292:exon24:c.A4736C:p.N1579T,ENSG00000083067:ENST00000408909:exon24:c.A4697C:p.N1566T,ENSG00000083067:ENST00000357533:exon25:c.A5132C:p.N1711T,ENSG00000083067:ENST00000360823:exon25:c.A4706C:p.N1569T,ENSG00000083067:ENST00000377110:exon25:c.A5120C:p.N1707T,ENSG00000083067:ENST00000377105:exon26:c.A4697C:p.N1566T,ENSG00000083067:ENST00000377106:exon26:c.A4736C:p.N1579T,ENSG00000083067:ENST00000423814:exon26:c.A5201C:p.N1734T Score=528;Name=lod=186 NA 9q21.12 NA NA NA NA rs17535963 0.21 0.21 0.188 0.209065 0.2823 0.1766 0.3285 0.0681 0.273 0.27 0.17 0.36 0.06 0.2702 0.36 0.15 T 0.0 B 0.003 B 0.002 N 0.000 P 0.55 N 0.43 T -0.926 T 0.000 T 0.158 0.44 6.388 1.42 0.378 1.940 4.448 0.439718 NA 0.01 0.305 0.100318 NA 0.225 NA 8.4758334 812 11 68851414 68851414 T C exonic TPCN2 NA nonsynonymous SNV TPCN2:NM_139075:exon19:c.T1691C:p.L564P exonic ENSG00000162341 NA nonsynonymous SNV ENSG00000162341:ENST00000294309:exon19:c.T1691C:p.L564P Score=403;Name=lod=58 NA 11q13.3 NA NA NA NA rs2376558 0.76 0.76 0.787 0.752995 0.9871 0.504 0.6124 0.7163 0.9182 0.99 0.52 0.7 0.72 0.8797 0.99 0.21 T 0.001 B 0.001 B 0.143 N 0.000 P 0.44 N -4.93 D -0.952 T 0.000 T 0.041 0.203 5.095 2.65 0.180 3.571 5.787 0.203105 NA 0.11 0.990918 0.755909 NA 0.79 NA 8.4756154 812 2 27550967 27550967 A G exonic GTF3C2 NA synonymous SNV GTF3C2:NM_001035521:exon17:c.T2346C:p.P782P,GTF3C2:NM_001521:exon18:c.T2346C:p.P782P exonic ENSG00000115207 NA synonymous SNV ENSG00000115207:ENST00000264720:exon17:c.T2346C:p.P782P,ENSG00000115207:ENST00000359541:exon17:c.T2346C:p.P782P Score=533;Name=lod=196 NA 2p23.3 Score=879;Name=V$SPZ1_01 NA NA NA rs1049817 0.41 0.41 0.402 0.45028 0.3807 0.1647 0.4755 0.7413 0.4049 0.39 0.13 0.42 0.74 0.4216 0.74 . . . . . . . . 0.000 P . . . . -1.004 T 0.000 T . 0.689 7.681 2.32 0.197 -0.432 4.534 0.689087 NA NA 0.388837 0.675897 NA 0.63 NA 8.4755296 812 16 76587202 76587202 T G exonic CNTNAP4 NA nonsynonymous SNV CNTNAP4:NM_138994:exon21:c.T3246G:p.D1082E exonic ENSG00000152910 NA nonsynonymous SNV ENSG00000152910:ENST00000476707:exon21:c.T3474G:p.D1158E,ENSG00000152910:ENST00000478060:exon21:c.T3246G:p.D1082E,ENSG00000152910:ENST00000377504:exon22:c.T3318G:p.D1106E,ENSG00000152910:ENST00000307431:exon23:c.T3462G:p.D1154E Score=391;Name=lod=52 NA 16q23.1 NA NA NA NA rs7202925 0.28 0.28 0.303 0.300319 0.2773 0.2847 0.196 0.3449 0.3538 0.28 0.29 0.21 0.33 0.3018 0.33 1 T 0.0 B 0.004 B 0.001 N 1.000 P . . 1.0 T -0.977 T 0.000 T 0.083 -0.586 1.37 3.32 0.366 0.388 10.887 -0.58632 NA 1 0.27907 0.333758 ID=COSM148119;OCCURENCE=1(stomach) 0.333 NA 8.4751634 813 3 197241286 197241286 G C exonic BDH1 NA synonymous SNV BDH1:NM_004051:exon6:c.C411G:p.G137G,BDH1:NM_203315:exon6:c.C411G:p.G137G,BDH1:NM_203314:exon7:c.C411G:p.G137G exonic ENSG00000161267 NA synonymous SNV ENSG00000161267:ENST00000434143:exon5:c.C354G:p.G118G,ENSG00000161267:ENST00000446746:exon5:c.C150G:p.G50G,ENSG00000161267:ENST00000358186:exon6:c.C411G:p.G137G,ENSG00000161267:ENST00000392378:exon6:c.C411G:p.G137G,ENSG00000161267:ENST00000441275:exon6:c.C150G:p.G50G,ENSG00000161267:ENST00000392379:exon7:c.C411G:p.G137G,ENSG00000161267:ENST00000432819:exon7:c.C411G:p.G137G Score=540;Name=lod=208 NA 3q29 NA Name=HNF4A_(H-171),HDAC2_(SC-6296) Name=11 NA rs35089738 0.07 0.07 0.079 0.0780751 0.0656 0.001 0.0634 0.1687 0.0583 0.07 NA 0.06 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 0.415716 NA NA 0.064535 0.141625 NA 0.109 NA 8.4748316 813 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 813 5 139422232 139422232 G A exonic NRG2 NA synonymous SNV NRG2:NM_001184935:exon1:c.C423T:p.A141A,NRG2:NM_004883:exon1:c.C423T:p.A141A,NRG2:NM_013981:exon1:c.C423T:p.A141A,NRG2:NM_013982:exon1:c.C423T:p.A141A,NRG2:NM_013983:exon1:c.C423T:p.A141A exonic ENSG00000158458 NA synonymous SNV ENSG00000158458:ENST00000289409:exon1:c.C423T:p.A141A,ENSG00000158458:ENST00000289422:exon1:c.C423T:p.A141A,ENSG00000158458:ENST00000358522:exon1:c.C423T:p.A141A,ENSG00000158458:ENST00000361474:exon1:c.C423T:p.A141A,ENSG00000158458:ENST00000378238:exon1:c.C423T:p.A141A,ENSG00000158458:ENST00000394770:exon1:c.C423T:p.A141A,ENSG00000158458:ENST00000541337:exon1:c.C423T:p.A141A,ENSG00000158458:ENST00000545385:exon1:c.C423T:p.A141A Score=794;Name=lod=2256 NA 5q31.2 Score=819;Name=V$AP4_01 NA Name=39 NA rs144634106 0.03 0.03 0.039 0.0267572 0.0616 NA 0.0403 0.0272 0.0082 0.06 NA 0.05 0.02 0.0724 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623219 NA NA 0.060182 0.034524 NA NA NA 8.4724846 813 10 373048 373048 T C exonic DIP2C NA synonymous SNV DIP2C:NM_014974:exon31:c.A3822G:p.A1274A exonic ENSG00000151240 NA synonymous SNV ENSG00000151240:ENST00000280886:exon31:c.A3822G:p.A1274A NA NA 10p15.3 NA NA NA NA rs2288681 0.12 0.12 0.126 0.151358 0.0567 0.2083 0.0648 0.1884 0.2014 0.05 0.2 0.06 0.2 0.0864 0.2 . . . . . . . . 0.000 P . . . . -1.064 T 0.000 T . -0.394 2.154 -11.6 -2.978 -1.014 0.946 -0.393879 NA NA 0.051163 0.156151 NA 0.072 NA 8.4724036 813 4 26585881 26585881 C T exonic TBC1D19 NA synonymous SNV TBC1D19:NM_018317:exon1:c.C66T:p.S22S exonic ENSG00000109680 NA synonymous SNV ENSG00000109680:ENST00000264866:exon1:c.C66T:p.S22S,ENSG00000109680:ENST00000505206:exon1:c.C66T:p.S22S,ENSG00000109680:ENST00000511789:exon1:c.C66T:p.S22S Score=389;Name=lod=51 NA 4p15.2 Score=838;Name=V$OCT1_Q6 Name=TBP,ZNF263,Pol2-4H8,KAP1,Pol2 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 813 19 9076083 9076083 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.C11363T:p.T3788I exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C11363T:p.T3788I NA NA 19p13.2 NA NA NA NA rs2547072 0.25 0.25 0.254 0.248203 0.3121 0.249 0.2118 0.2005 0.272 0.31 0.21 0.24 0.22 0.2629 0.31 0 D 0.087 B 0.069 B . . . . 0 N 4.28 T -0.904 T 0.000 T 0.11 -0.29 2.614 -3.8 -0.874 -0.039 2.303 -0.290069 NA 0 0.287648 0.20551 ID=COSM1398110,COSM1398111;OCCURENCE=1(large_intestine) 0.254 NA 8.4706854 813 17 73570718 73570718 C G exonic LLGL2 NA nonsynonymous SNV LLGL2:NM_004524:exon24:c.C2981G:p.P994R exonic ENSG00000073350 NA nonsynonymous SNV ENSG00000073350:ENST00000167462:exon24:c.C2981G:p.P994R NA NA 17q25.1 Score=790;Name=V$CMYB_01 NA NA NA rs1126939 0.33 0.33 0.348 0.315296 0.2823 0.1508 0.245 0.6112 0.1687 0.29 0.14 0.24 0.68 0.2863 0.68 0 D 0.0 B 0.0 B . . 1.000 P . . 3.53 T -1.042 T 0.000 T . 0.903 8.672 0.022 -0.271 -0.116 4.422 0.903015 NA 0 0.294535 0.577621 NA 0.355 NA 8.4701984 813 19 9076929 9076929 T G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A10517C:p.K3506T exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A10517C:p.K3506T NA NA 19p13.2 NA Name=NRSF NA NA rs2547075 0.25 0.25 0.25 0.248203 0.3121 0.249 0.2118 0.2005 0.272 0.31 0.21 0.24 0.22 0.2628 0.31 0 D 0.0 B 0.0 B . . . . 0 N 4.17 T -0.898 T 0.000 T 0.06 -0.193 3.061 0.596 -0.065 -0.092 2.339 -0.193142 NA 1 0.288284 0.211884 NA 0.254 NA 8.4701494 813 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 813 1 234582651 234582651 T C exonic TARBP1 NA nonsynonymous SNV TARBP1:NM_005646:exon12:c.A2032G:p.S678G exonic ENSG00000059588 NA nonsynonymous SNV ENSG00000059588:ENST00000040877:exon12:c.A2032G:p.S678G NA NA 1q42.2 NA NA NA NA rs4920246 0.31 0.31 0.278 0.303115 0.2932 0.3036 0.3804 0.3101 0.2485 0.28 0.3 0.36 0.32 0.2991 0.36 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.24 N 3.51 T -0.924 T 0.000 T 0.039 -1.914 0.008 4.29 0.804 1.530 9.307 -1.913982 NA 0.04 0.272558 0.329551 NA 0.181 NA 8.4684754 813 11 9047242 9047242 T C intronic SCUBE2 NA NA NA exonic ENSG00000175356 NA unknown UNKNOWN NA NA 11p15.4 NA NA Name=9 NA rs143013956 0.01 0.01 0.002 0.0061901 0.0119 NA 0.0144 0.0023 0.0061 0.01 NA 0.02 0.002 0.0105 0.02 . . . . . . . . 1.000 N . . . . -1.023 T 0.025 T . 0.761 8.025 -2.4 -0.584 -1.521 2.465 0.760535 NA NA 0.011522 0.002272 NA NA NA 8.466078 813 5 150901111 150901111 A G exonic FAT2 NA synonymous SNV FAT2:NM_001447:exon18:c.T11043C:p.D3681D exonic ENSG00000086570 NA synonymous SNV ENSG00000086570:ENST00000261800:exon18:c.T11043C:p.D3681D NA NA 5q33.1 Score=910;Name=V$PAX4_03 NA NA NA rs3822699 0.77 0.77 0.747 0.779553 0.7177 0.9494 0.7968 0.6339 0.8528 0.72 0.95 0.78 0.62 0.7657 0.95 . . . . . . . . 0.000 P . . . . -1.039 T 0.000 T . -0.667 1.08 -6.42 -2.542 -1.785 19.859 -0.667237 NA NA 0.717558 0.654108 NA 0.739 NA 8.4657086 813 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 814 12 6105387 6105387 G A exonic VWF NA synonymous SNV VWF:NM_000552:exon35:c.C5844T:p.C1948C exonic ENSG00000110799 NA synonymous SNV ENSG00000110799:ENST00000261405:exon35:c.C5844T:p.C1948C Score=567;Name=lod=268 NA 12p13.31 Score=671;Name=V$P53_01 Name=Pol2(b) Name=3 NA rs216902 0.46 0.46 0.437 0.45607 0.3648 0.7252 0.4179 0.2784 0.5399 0.37 0.75 0.43 0.31 0.4577 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 0.538539 NA NA 0.379767 0.309805 NA 0.341 NA 8.4643996 814 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 814 15 86124946 86124946 T C exonic AKAP13 NA nonsynonymous SNV AKAP13:NM_006738:exon7:c.T3647C:p.M1216T,AKAP13:NM_007200:exon7:c.T3647C:p.M1216T exonic ENSG00000170776 NA nonsynonymous SNV ENSG00000170776:ENST00000361243:exon7:c.T3647C:p.M1216T,ENSG00000170776:ENST00000394518:exon7:c.T3647C:p.M1216T,ENSG00000170776:ENST00000559362:exon7:c.T3647C:p.M1216T NA NA 15q25.3 NA Name=ZNF263,GR,Pol2 Name=33 NA rs7162168 0.59 0.59 0.593 0.582668 0.6153 0.5813 0.621 0.5499 0.5675 0.61 0.59 0.61 0.53 0.6095 0.64 0.58 T 0.0 B 0.0 B . . 1.000 P 0 N 2.77 T -0.951 T 0.000 T 0.261 -0.674 1.059 -4.99 -0.333 -0.686 2.279 -0.673511 NA 0.1 0.644336 0.593097 NA 0.572 NA 8.4641974 814 15 86123988 86123988 G A exonic AKAP13 NA nonsynonymous SNV AKAP13:NM_006738:exon7:c.G2689A:p.V897M,AKAP13:NM_007200:exon7:c.G2689A:p.V897M exonic ENSG00000170776 NA nonsynonymous SNV ENSG00000170776:ENST00000361243:exon7:c.G2689A:p.V897M,ENSG00000170776:ENST00000394518:exon7:c.G2689A:p.V897M,ENSG00000170776:ENST00000559362:exon7:c.G2689A:p.V897M NA NA 15q25.3 NA NA NA NA rs4075254 0.58 0.58 0.597 0.582069 0.6153 0.5784 0.6182 0.5469 0.5736 0.61 0.58 0.61 0.53 0.6105 0.64 0.04 D 0.033 B 0.02 B . . 1.000 P 0.55 N 2.22 T -0.997 T 0.000 T 0.263 1.577 11.23 3.8 1.397 0.662 7.960 1.577444 1.577444 0 0.644336 0.591508 NA 0.572 NA 8.4631974 814 4 106317429 106317429 C G exonic PPA2 NA nonsynonymous SNV PPA2:NM_176867:exon3:c.G348C:p.K116N,PPA2:NM_176866:exon5:c.G540C:p.K180N,PPA2:NM_006903:exon8:c.G759C:p.K253N,PPA2:NM_176869:exon9:c.G846C:p.K282N exonic ENSG00000138777 NA nonsynonymous SNV ENSG00000138777:ENST00000354147:exon3:c.G348C:p.K116N,ENSG00000138777:ENST00000432483:exon5:c.G540C:p.K180N,ENSG00000138777:ENST00000348706:exon8:c.G759C:p.K253N,ENSG00000138777:ENST00000380004:exon8:c.G792C:p.K264N,ENSG00000138777:ENST00000341695:exon9:c.G846C:p.K282N,ENSG00000138777:ENST00000357415:exon11:c.G891C:p.K297N NA NA 4q24 NA NA NA NA rs13787 0.45 0.45 0.391 0.432708 0.4592 0.6766 0.5086 0.0923 0.5603 0.49 0.68 0.45 0.1 0.4544 0.68 0.14 T 0.57 P 0.198 B 0.000 D 0.000 P 2.22 M 0.81 T -0.964 T 0.000 T 0.132 1.764 11.86 0.105 -0.083 -0.843 6.729 1.763782 1.763782 0.05 0.456714 0.132773 NA 0.413 NA 8.4630194 814 3 148597612 148597612 C T exonic CPA3 NA nonsynonymous SNV CPA3:NM_001870:exon6:c.C512T:p.T171M exonic ENSG00000163751 NA nonsynonymous SNV ENSG00000163751:ENST00000296046:exon6:c.C512T:p.T171M Score=594;Name=lod=345 NA 3q24 Score=759;Name=V$MEF2_01 NA NA NA rs12489516 0.97 0.97 0.969 0.969249 0.9592 0.9494 0.9611 0.9977 0.9673 0.97 0.95 0.96 0.99 0.9577 1 0.55 T 0.0 B 0.0 B 0.000 N 1.000 P -2.815 N 1.65 T -0.949 T 0.000 T 0.093 0.853 8.45 4.77 0.941 4.741 9.934 0.852937 NA 0.91 0.953488 0.987744 NA 1 NA 8.4629454 814 15 73027478 73027478 T C exonic BBS4 NA nonsynonymous SNV BBS4:NM_001252678:exon12:c.T545C:p.I182T,BBS4:NM_033028:exon13:c.T1061C:p.I354T exonic ENSG00000140463 NA nonsynonymous SNV ENSG00000140463:ENST00000542334:exon12:c.T545C:p.I182T,ENSG00000140463:ENST00000268057:exon13:c.T1061C:p.I354T,ENSG00000140463:ENST00000395205:exon13:c.T1085C:p.I362T,ENSG00000140463:ENST00000539603:exon14:c.T1025C:p.I342T NA NA 15q24.1 NA NA Name=2 NA rs2277598 0.45 0.45 0.43 0.428914 0.6561 0.256 0.4841 0.2413 0.5879 0.65 0.25 0.58 0.28 0.5743 0.65 0.3 T 0.0 B 0.001 B 0.945 N 1.000 P 0.205 N 0.7 T -0.953 T 0.000 T 0.452 0.645 7.46 -4.41 -0.575 -0.246 9.416 0.64454 NA 0.55 0.640447 0.322111 NA 0.5 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Bardet-Biedl_syndrome|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000020938.2|RCV000132688.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1363:C0752166:209900:ORPHA110:5619004|. 8.4624864 814 10 124189197 124189197 A G exonic PLEKHA1 NA nonsynonymous SNV PLEKHA1:NM_001001974:exon12:c.A958G:p.T320A,PLEKHA1:NM_021622:exon12:c.A958G:p.T320A exonic ENSG00000107679 NA nonsynonymous SNV ENSG00000107679:ENST00000433307:exon11:c.A958G:p.T320A,ENSG00000107679:ENST00000368990:exon12:c.A958G:p.T320A,ENSG00000107679:ENST00000392799:exon13:c.A958G:p.T320A Score=537;Name=lod=203 NA 10q26.13 NA NA NA NA rs1045216 0.72 0.72 0.676 0.746805 0.5895 0.8155 0.745 0.8321 0.7239 0.6 0.8 0.73 0.8 0.6788 0.8 1 T 0.0 B 0.0 B 0.919 N 0.000 P -0.55 N 3.46 T -1.005 T 0.000 T 0.03 -0.581 1.391 4.81 0.899 1.192 6.727 -0.580748 NA 1 0.602674 0.793236 NA 0.717 NA 8.4623594 814 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 814 5 145506100 145506100 G A exonic LARS NA synonymous SNV LARS:NM_020117:exon28:c.C2889T:p.N963N exonic ENSG00000133706 NA synonymous SNV ENSG00000133706:ENST00000274562:exon27:c.C2808T:p.N936N,ENSG00000133706:ENST00000510191:exon27:c.C2727T:p.N909N,ENSG00000133706:ENST00000545646:exon27:c.C2751T:p.N917N,ENSG00000133706:ENST00000394434:exon28:c.C2889T:p.N963N Score=621;Name=lod=445 NA 5q32 Score=812;Name=V$CDP_01 NA Name=8 NA rs11540216 0.04 0.04 0.045 0.0425319 0.0726 NA 0.0317 0.0582 0.0419 0.08 NA 0.04 0.04 0.0584 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.242136 NA NA 0.074552 0.055379 NA 0.051 NA 8.4611146 814 6 31473561 31473561 A G exonic MICB NA nonsynonymous SNV MICB:NM_005931:exon2:c.A238G:p.K80E exonic ENSG00000204516 NA nonsynonymous SNV ENSG00000204516:ENST00000252229:exon2:c.A238G:p.K80E,ENSG00000204516:ENST00000399150:exon2:c.A238G:p.K80E,ENSG00000204516:ENST00000538442:exon2:c.A142G:p.K48E NA NA 6p21.33 NA NA NA NA rs1065075 0.28 0.28 0.266 0.282947 0.2634 0.2748 0.1902 0.3835 0.2413 0.28 0.23 0.21 0.4 0.3035 0.4 1 T 0.002 B 0.009 B 0.501 N 1.000 P -0.98 N 5.0 T -0.989 T 0.000 T 0.01 -1.798 0.009 -5.29 -1.442 -0.679 3.114 -1.797801 NA 1 0.306622 0.359472 NA 0.348 NA 8.4598114 814 9 131027963 131027963 A G exonic GOLGA2 NA synonymous SNV GOLGA2:NM_004486:exon11:c.T753C:p.S251S exonic ENSG00000167110 NA synonymous SNV ENSG00000167110:ENST00000421699:exon11:c.T753C:p.S251S,ENSG00000167110:ENST00000450617:exon12:c.T834C:p.S278S NA NA 9q34.11 NA NA NA NA rs12335848 0.11 0.11 0.094 0.116613 0.0586 0.2431 0.1239 0.0363 0.1493 0.06 0.25 0.1 0.05 0.0948 0.25 . . . . . . . . 0.000 P . . . . . . . . . -0.647 1.151 -11.4 -3.902 -2.309 1.103 -0.646797 NA NA 0.054884 0.04337 ID=COSM1162570;OCCURENCE=1(pancreas) 0.043 NA 8.4583826 814 6 51921703 51921703 A G exonic PKHD1 NA synonymous SNV PKHD1:NM_138694:exon17:c.T1587C:p.N529N,PKHD1:NM_170724:exon17:c.T1587C:p.N529N exonic ENSG00000170927 NA synonymous SNV ENSG00000170927:ENST00000340994:exon17:c.T1587C:p.N529N,ENSG00000170927:ENST00000371117:exon17:c.T1587C:p.N529N Score=433;Name=lod=77 NA 6p12.2 Score=828;Name=V$CHOP_01 NA NA NA rs62406036 0.06 0.06 0.062 0.0632987 0.0726 0.1032 0.036 0.0038 0.1125 0.07 0.09 0.04 0.0041 0.0679 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 1.175839 NA NA 0.068605 0.013845 NA 0.051 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082528.1;CLNDSDB=.;CLNDSDBID=. 8.4575616 814 19 58578578 58578578 C T exonic ZNF135 NA synonymous SNV ZNF135:NM_001164530:exon4:c.C762T:p.Y254Y,ZNF135:NM_007134:exon4:c.C798T:p.Y266Y,ZNF135:NM_003436:exon5:c.C762T:p.Y254Y exonic ENSG00000176293 NA synonymous SNV ENSG00000176293:ENST00000359978:exon4:c.C762T:p.Y254Y,ENSG00000176293:ENST00000401053:exon4:c.C798T:p.Y266Y,ENSG00000176293:ENST00000313434:exon5:c.C726T:p.Y242Y,ENSG00000176293:ENST00000439855:exon5:c.C726T:p.Y242Y,ENSG00000176293:ENST00000506786:exon5:c.C600T:p.Y200Y,ENSG00000176293:ENST00000511556:exon5:c.C762T:p.Y254Y NA NA 19q13.43 NA NA NA NA rs2229375 0.36 0.36 0.345 0.366813 0.4105 0.2103 0.4798 0.3548 0.4192 0.4 0.24 0.45 0.36 0.3969 0.45 . . . . . . . . 1.000 P . . . . -1.009 T 0.000 T . -1.71 0.011 -7.05 -2.190 -2.161 8.025 -1.709594 NA NA 0.402209 0.337721 NA 0.471 NA 8.4570576 814 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 814 19 53117531 53117531 C T exonic ZNF83 NA nonsynonymous SNV ZNF83:NM_001105554:exon3:c.G287A:p.S96N,ZNF83:NM_001277951:exon3:c.G287A:p.S96N,ZNF83:NM_018300:exon3:c.G287A:p.S96N,ZNF83:NM_001105552:exon4:c.G287A:p.S96N,ZNF83:NM_001242538:exon4:c.G287A:p.S96N,ZNF83:NM_001277946:exon4:c.G287A:p.S96N,ZNF83:NM_001105550:exon5:c.G287A:p.S96N,ZNF83:NM_001105551:exon5:c.G287A:p.S96N,ZNF83:NM_001277948:exon5:c.G287A:p.S96N,ZNF83:NM_001277949:exon5:c.G287A:p.S96N,ZNF83:NM_001277952:exon5:c.G287A:p.S96N,ZNF83:NM_001105549:exon6:c.G287A:p.S96N,ZNF83:NM_001105553:exon6:c.G287A:p.S96N,ZNF83:NM_001242531:exon6:c.G287A:p.S96N,ZNF83:NM_001277945:exon6:c.G287A:p.S96N,ZNF83:NM_001277947:exon6:c.G287A:p.S96N exonic ENSG00000167766 NA nonsynonymous SNV ENSG00000167766:ENST00000391789:exon1:c.G287A:p.S96N,ENSG00000167766:ENST00000541777:exon2:c.G287A:p.S96N,ENSG00000167766:ENST00000597597:exon2:c.G287A:p.S96N,ENSG00000167766:ENST00000301096:exon3:c.G287A:p.S96N,ENSG00000167766:ENST00000545872:exon3:c.G287A:p.S96N,ENSG00000167766:ENST00000536937:exon5:c.G287A:p.S96N,ENSG00000167766:ENST00000544146:exon6:c.G287A:p.S96N NA NA 19q13.41 NA NA NA NA rs1056185 0.73 0.73 0.738 0.712859 0.6431 0.7063 0.7435 0.885 0.5368 0.65 0.72 0.71 0.86 0.6396 0.86 1 T 0.0 B 0.0 B . . 1.000 P 0.055 N 3.07 T -0.980 T 0.000 T 0.015 -2.252 0.004 -2.41 -1.441 -1.362 7.568 -2.251714 NA 1 0.595 0.810713 NA 0.674 NA 8.4556334 814 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$E2F_01 NA NA NA rs3211362 0.4 0.4 0.394 0.363618 0.4443 0.2688 0.3357 0.5408 0.1585 0.44 0.25 0.36 0.53 0.3689 0.53 . . . . . . . . 0.000 P . . . . -1.110 T 0.000 T . -0.335 2.413 -10.3 -2.912 -2.821 17.059 -0.334936 NA NA 0.398045 0.501362 NA 0.457 NA 8.4554216 814 7 27204732 27204732 C A exonic HOXA9 NA synonymous SNV HOXA9:NM_152739:exon1:c.G345T:p.T115T exonic ENSG00000078399 NA synonymous SNV ENSG00000078399:ENST00000343483:exon1:c.G345T:p.T115T Score=664;Name=lod=668 NA 7p15.2 Score=905;Name=V$NF1_Q6 NA Name=4 NA rs35355140 0.08 0.08 0.058 0.0664936 0.0646 0.1984 0.0533 0.0015 0.0297 0.07 0.17 0.06 0.002 0.0782 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.522234 NA NA 0.068653 0.016591 NA 0.08 NA 8.4552136 814 22 20779768 20779768 G C exonic SCARF2 NA nonsynonymous SNV SCARF2:NM_153334:exon11:c.C2510G:p.A837G,SCARF2:NM_182895:exon11:c.C2495G:p.A832G exonic ENSG00000244486 NA nonsynonymous SNV ENSG00000244486:ENST00000266214:exon11:c.C2510G:p.A837G,ENSG00000244486:ENST00000405555:exon11:c.C2495G:p.A832G NA NA 22q11.21 Score=823;Name=V$ARP1_01 Name=ZBTB7A_(SC-34508) NA NA rs874101 0.53 0.53 0.461 0.534545 0.6471 0.3304 0.5043 0.6188 0.5368 0.63 0.3 0.55 0.63 0.5814 0.66 0.36 T 0.0 B 0.001 B 0.051 N 1.000 P 0 N 2.16 T -0.943 T 0.000 T 0.027 0.277 5.5 -3.09 -0.480 0.260 1.718 0.27718 NA 0.47 0.649772 0.663401 NA 0.319 NA 8.4550614 815 5 140230370 140230370 A C exonic PCDHA9 NA nonsynonymous SNV PCDHA9:NM_014005:exon1:c.A2290C:p.K764Q,PCDHA9:NM_031857:exon1:c.A2290C:p.K764Q exonic ENSG00000204961 NA nonsynonymous SNV ENSG00000204961:ENST00000378122:exon1:c.A2290C:p.K764Q,ENSG00000204961:ENST00000532602:exon1:c.A2290C:p.K764Q NA NA 5q31.3 Score=763;Name=V$PAX5_02 NA NA NA rs369636 0.49 0.49 0.573 0.626198 0.6312 0.4563 0.5778 0.7398 0.6769 0.49 0.4 0.59 0.54 0.6232 0.72 0.02 D 0.0 B 0.0 B 0.907 U 1.000 P -0.695 N 2.78 T -1.024 T 0.000 T 0.068 -0.34 2.39 -1.83 -0.417 -1.321 4.814 -0.340174 NA 0.02 0.624035 0.720983 NA NA NA 8.4548984 815 12 124826598 124826598 T C exonic NCOR2 NA synonymous SNV NCOR2:NM_001077261:exon35:c.A4929G:p.R1643R,NCOR2:NM_001206654:exon35:c.A4929G:p.R1643R,NCOR2:NM_006312:exon36:c.A4959G:p.R1653R exonic ENSG00000196498 NA synonymous SNV ENSG00000196498:ENST00000397355:exon34:c.A4932G:p.R1644R,ENSG00000196498:ENST00000404121:exon34:c.A3642G:p.R1214R,ENSG00000196498:ENST00000404621:exon34:c.A4929G:p.R1643R,ENSG00000196498:ENST00000405201:exon34:c.A4959G:p.R1653R,ENSG00000196498:ENST00000429285:exon34:c.A4929G:p.R1643R,ENSG00000196498:ENST00000356219:exon35:c.A4980G:p.R1660R Score=579;Name=lod=302 NA 12q24.31 Score=853;Name=V$ARNT_01 NA NA NA rs2230942 0.18 0.18 0.174 0.185903 0.0408 0.377 0.0807 0.3162 0.0368 0.04 0.34 0.06 0.29 0.11 0.34 . . . . . . . . 0.000 P . . . . -0.963 T 0.000 T . 1.207 9.903 1.0 0.210 -0.079 5.108 1.207404 NA NA 0.062171 0.273146 NA 0.174 NA 8.4536956 815 22 30771554 30771554 T G exonic CCDC157 NA nonsynonymous SNV CCDC157:NM_001017437:exon10:c.T1759G:p.S587A exonic ENSG00000187860 NA nonsynonymous SNV ENSG00000187860:ENST00000338306:exon10:c.T1759G:p.S587A,ENSG00000187860:ENST00000405659:exon10:c.T1759G:p.S587A Score=469;Name=lod=107 NA 22q12.2 NA NA NA NA rs2015035 0.98 0.98 0.978 0.986422 0.9612 1 0.9712 0.9985 0.9928 0.96 1 0.96 1 0.9684 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.955 N -1.06 T -0.935 T 0.000 T 0.233 3.152 16.54 5.24 1.223 4.139 13.418 3.152334 3.152334 0.01 0.951279 0.988425 NA 0.978 NA 8.4524544 815 17 40266939 40266939 G A exonic KAT2A NA synonymous SNV KAT2A:NM_021078:exon13:c.C1990T:p.L664L exonic ENSG00000108773 NA synonymous SNV ENSG00000108773:ENST00000225916:exon13:c.C1990T:p.L664L Score=551;Name=lod=232 NA 17q21.2 Score=840;Name=V$RORA2_01 NA Name=3 NA rs17659391 0.04 0.04 0.033 0.0219649 0.0895 NA 0.0159 0.003 0.0051 0.1 NA 0.02 0.0041 0.0532 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 1.045485 NA NA 0.072442 0.014526 NA 0.022 NA 8.4515246 815 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 815 1 202287206 202287206 T C exonic LGR6 NA nonsynonymous SNV LGR6:NM_001017404:exon16:c.T1358C:p.V453A,LGR6:NM_001017403:exon18:c.T1775C:p.V592A,LGR6:NM_021636:exon18:c.T1619C:p.V540A exonic ENSG00000133067 NA nonsynonymous SNV ENSG00000133067:ENST00000439764:exon16:c.T1358C:p.V453A,ENSG00000133067:ENST00000255432:exon18:c.T1619C:p.V540A,ENSG00000133067:ENST00000367278:exon18:c.T1775C:p.V592A NA NA 1q32.1 NA Name=HNF4A_(H-171),HNF4G_(SC-6558) NA NA rs788795 0.62 0.62 0.57 0.610024 0.6392 0.7679 0.7219 0.3381 0.7055 0.64 0.75 0.69 0.36 0.634 0.75 0.72 T 0.0 B 0.002 B 0.752 N 1.000 P -0.55 N -2.46 D -0.987 T 0.000 T 0.068 -1.164 0.093 -5.15 -0.551 0.118 10.392 -1.164466 NA 0.57 0.609535 0.369269 NA 0.58 NA 8.4505984 815 19 16259623 16259623 C T exonic HSH2D NA synonymous SNV HSH2D:NM_032855:exon4:c.C63T:p.T21T exonic ENSG00000196684 NA synonymous SNV ENSG00000196684:ENST00000586872:exon2:c.C63T:p.T21T,ENSG00000196684:ENST00000587963:exon2:c.C63T:p.T21T,ENSG00000196684:ENST00000588246:exon2:c.C63T:p.T21T,ENSG00000196684:ENST00000589463:exon2:c.C63T:p.T21T,ENSG00000196684:ENST00000253680:exon4:c.C63T:p.T21T,ENSG00000196684:ENST00000593154:exon4:c.C63T:p.T21T Score=363;Name=lod=40 NA 19p13.12 Score=744;Name=V$MYOGNF1_01 NA Name=4 NA rs8103852 0.12 0.12 0.124 0.123203 0.0746 0.0169 0.0692 0.3464 0.0194 0.08 0.02 0.07 0.32 0.0742 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.514292 1.514292 NA 0.067939 0.29646 NA 0.167 NA 8.4499276 815 3 127323830 127323830 C T exonic MCM2 NA synonymous SNV MCM2:NM_004526:exon4:c.C504T:p.I168I exonic ENSG00000073111 NA synonymous SNV ENSG00000073111:ENST00000265056:exon4:c.C504T:p.I168I Score=585;Name=lod=319 NA 3q21.3 NA NA NA NA rs893293 0.65 0.65 0.687 0.596046 0.7783 0.626 0.6124 0.4849 0.5164 0.78 0.64 0.61 0.5 0.6846 0.78 . . . . . . . . 0.000 P . . . . -1.018 T 0.000 T . 1.706 11.66 -5.75 -0.956 -1.096 7.848 1.70574 1.70574 NA 0.753953 0.526782 NA 0.71 NA 8.4498136 815 19 36594659 36594659 A T exonic WDR62 NA nonsynonymous SNV WDR62:NM_001083961:exon30:c.A3929T:p.Q1310L,WDR62:NM_173636:exon30:c.A3914T:p.Q1305L exonic ENSG00000075702 NA nonsynonymous SNV ENSG00000075702:ENST00000270301:exon30:c.A3914T:p.Q1305L,ENSG00000075702:ENST00000401500:exon30:c.A3929T:p.Q1310L NA NA 19q13.12 NA Name=Pol2 NA NA rs2074435 0.73 0.73 0.742 0.729633 0.6252 0.7956 0.7392 0.8192 0.6411 0.63 0.8 0.7 0.83 0.6536 0.83 0.39 T 0.0 B 0.0 B 0.581 N 1.000 P -0.975 N 1.25 T -0.988 T 0.000 T 0.032 0.708 7.775 2.09 -0.055 0.511 2.656 0.708344 NA 0.51 0.605116 0.78325 NA 0.594 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079454.1;CLNDSDB=.;CLNDSDBID=. 8.4494174 815 1 216348764 216348764 C T exonic USH2A NA nonsynonymous SNV USH2A:NM_007123:exon21:c.G4457A:p.R1486K,USH2A:NM_206933:exon21:c.G4457A:p.R1486K exonic ENSG00000042781 NA nonsynonymous SNV ENSG00000042781:ENST00000307340:exon21:c.G4457A:p.R1486K,ENSG00000042781:ENST00000366942:exon21:c.G4457A:p.R1486K,ENSG00000042781:ENST00000366943:exon21:c.G4457A:p.R1486K NA NA 1q41 Score=821;Name=V$SRF_C NA NA NA rs1805049 0.67 0.67 0.634 0.66234 0.6143 0.7788 0.7017 0.5537 0.7106 0.63 0.79 0.7 0.55 0.658 0.79 0.12 T 0.118 B 0.031 B 0.332 U 1.000 P 1.39 L 0.61 T -1.017 T 0.000 T 0.118 1.399 10.61 -2.24 -0.482 -1.625 1.701 1.398848 1.398848 0.53 0.611744 0.596005 NA 0.623 NA 8.4492894 815 13 39264690 39264690 T C exonic FREM2 NA nonsynonymous SNV FREM2:NM_207361:exon1:c.T3209C:p.F1070S exonic ENSG00000150893 NA nonsynonymous SNV ENSG00000150893:ENST00000280481:exon1:c.T3209C:p.F1070S NA NA 13q13.3 NA NA NA NA rs2496425 0.46 0.46 0.479 0.48123 0.2624 0.4177 0.4496 0.8381 0.3119 0.26 0.43 0.42 0.82 0.3473 0.82 0.64 T 0.0 B 0.0 B 0.001 N 1.000 P 0.675 N 1.09 T -1.006 T 0.000 T 0.036 -1.615 0.013 6.07 1.598 0.928 10.140 -1.615018 NA 0.93 0.274419 0.752383 ID=COSM1366801;OCCURENCE=1(large_intestine) 0.471 NA 8.4492144 815 10 81701722 81701722 T C exonic SFTPD NA nonsynonymous SNV SFTPD:NM_003019:exon5:c.A538G:p.T180A exonic ENSG00000133661 NA nonsynonymous SNV ENSG00000133661:ENST00000372292:exon5:c.A538G:p.T180A,ENSG00000133661:ENST00000444384:exon5:c.A577G:p.T193A NA NA 10q22.3 NA NA NA NA rs2243639 0.74 0.74 0.725 0.770367 0.6113 0.7917 0.6196 0.9826 0.7321 0.6 0.78 0.65 0.98 0.6635 0.98 0.85 T 0.0 B 0.001 B 0.880 N 1.000 P 0.145 N -1.72 D -0.941 T 0.000 T 0.267 -2.239 0.005 -3.79 -0.386 -1.321 1.600 -2.238659 NA 0.7 0.609651 0.92374 NA 0.688 NA 8.4488824 815 1 16380196 16380196 T C exonic CLCNKB NA nonsynonymous SNV CLCNKB:NM_001165945:exon9:c.T1178C:p.M393T,CLCNKB:NM_000085:exon16:c.T1685C:p.M562T exonic ENSG00000184908 NA nonsynonymous SNV ENSG00000184908:ENST00000431772:exon2:c.T152C:p.M51T,ENSG00000184908:ENST00000375667:exon9:c.T1178C:p.M393T,ENSG00000184908:ENST00000375679:exon16:c.T1685C:p.M562T NA NA 1p36.13 Score=966;Name=V$P53_02 NA NA NA rs5253 0.83 0.83 0.831 0.838259 0.9692 0.8353 0.9179 0.646 0.91 0.96 0.81 0.92 0.61 0.931 0.98 0.44 T 0.0 B 0.003 B 0.986 N 1.000 P -1.56 N -2.2 D -0.983 T 0.000 T 0.164 -2.119 0.006 -3.73 -1.098 -0.923 7.111 -2.118749 NA 0.78 0.984411 0.700635 NA 0.848 NA 8.4487224 815 3 118909159 118909159 A G exonic UPK1B NA nonsynonymous SNV UPK1B:NM_006952:exon4:c.A338G:p.Q113R exonic ENSG00000114638 NA nonsynonymous SNV ENSG00000114638:ENST00000460625:exon3:c.A338G:p.Q113R,ENSG00000114638:ENST00000497685:exon3:c.A98G:p.Q33R,ENSG00000114638:ENST00000264234:exon4:c.A338G:p.Q113R,ENSG00000114638:ENST00000494855:exon4:c.A338G:p.Q113R,ENSG00000114638:ENST00000479520:exon5:c.A338G:p.Q113R Score=555;Name=lod=240 NA 3q13.32 NA NA NA NA rs9840317 0.94 0.94 0.939 0.917133 0.9732 0.9286 0.9236 0.8949 0.8732 0.97 0.93 0.94 0.89 0.9435 0.97 1 T 0.0 B 0.0 B 0.002 N 1.000 P -0.65 N -1.05 T -0.944 T 0.000 T 0.173 -0.4 2.128 4.57 1.159 2.632 6.345 -0.399742 NA 1 0.968488 0.922606 NA 0.92 NA 8.4481454 815 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 815 4 3234980 3234980 G A exonic HTT NA nonsynonymous SNV HTT:NM_002111:exon61:c.G8356A:p.V2786I exonic ENSG00000197386 NA nonsynonymous SNV ENSG00000197386:ENST00000355072:exon61:c.G8356A:p.V2786I NA NA 4p16.3 NA NA NA NA rs362272 0.25 0.25 0.195 0.210264 0.3091 0.3185 0.2867 0.0106 0.2127 0.32 0.31 0.3 0.01 0.2805 0.32 0.9 T 0.002 B 0.002 B 0.763 N 1.000 P 0.06 N -0.16 T -1.009 T 0.000 T 0.171 0.301 5.633 -4.25 -0.795 1.389 12.996 0.301421 NA 1 0.296244 0.067217 ID=COSM447795;OCCURENCE=1(breast) 0.304 NA 8.4474894 815 17 26708302 26708302 G T exonic SARM1 NA nonsynonymous SNV SARM1:NM_015077:exon3:c.G548T:p.G183V exonic ENSG00000004139,ENSG00000244045 NA nonsynonymous SNV ENSG00000004139:ENST00000457710:exon2:c.G449T:p.G150V,ENSG00000244045:ENST00000509083:exon6:c.G612T:p.W204C Score=343;Name=lod=33 NA 17q11.2 NA NA NA NA rs71373646 NA NA 0.932 0.999401 1 0.998 1 0.9992 1 NA NA NA NA 0.000009192 0.89 0.08 T 0.0 B 0.0 B . . 0.000 P . . 0.97 T -1.045 T 0.000 T 0.085 2.162 13.19 3.71 0.761 2.860 7.066 2.162363 2.162363 0.27 0.885851 0.871422 NA NA NA 8.4474732 815 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 815 1 44058265 44058265 C A exonic PTPRF NA synonymous SNV PTPRF:NM_002840:exon11:c.C1806A:p.A602A,PTPRF:NM_130440:exon11:c.C1806A:p.A602A exonic ENSG00000142949 NA synonymous SNV ENSG00000142949:ENST00000422171:exon3:c.C183A:p.A61A,ENSG00000142949:ENST00000372413:exon9:c.C1806A:p.A602A,ENSG00000142949:ENST00000372414:exon9:c.C1806A:p.A602A,ENSG00000142949:ENST00000359947:exon11:c.C1806A:p.A602A,ENSG00000142949:ENST00000438120:exon11:c.C1806A:p.A602A Score=482;Name=lod=121 NA 1p34.2 NA Name=ZNF263 NA NA rs3828151 0.42 0.42 0.416 0.446486 0.3966 0.5585 0.317 0.4561 0.4611 0.4 0.51 0.34 0.4 0.4199 0.51 . . . . . . . . 0.000 P . . . . -0.896 T 0.000 T . 1.074 9.385 1.93 0.311 -1.256 8.319 1.073889 NA NA 0.403721 0.456877 NA 0.377 NA 8.4464456 815 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 816 1 117559726 117559726 A G exonic CD101 NA nonsynonymous SNV CD101:NM_001256106:exon5:c.A1243G:p.M415V,CD101:NM_001256109:exon5:c.A1243G:p.M415V,CD101:NM_001256111:exon5:c.A1057G:p.M353V,CD101:NM_004258:exon5:c.A1243G:p.M415V exonic ENSG00000134256 NA nonsynonymous SNV ENSG00000134256:ENST00000256652:exon5:c.A1243G:p.M415V,ENSG00000134256:ENST00000369470:exon5:c.A1243G:p.M415V NA NA 1p13.1 NA Name=EBF NA NA rs2249265 0.92 0.92 0.923 0.935304 0.9602 0.8462 0.9625 0.969 0.9366 0.95 0.85 0.96 0.93 0.9518 0.98 1 T 0.0 B 0.0 B 0.681 N 1.000 P -1.445 N -0.1 T -1.053 T 0.011 T 0.024 -2.915 0.001 -8.2 -1.822 -1.273 1.287 -2.91543 NA 1 0.976512 0.97231 NA 0.949 NA 8.4448214 816 1 26527884 26527884 G A exonic CATSPER4 NA synonymous SNV CATSPER4:NM_198137:exon9:c.G1239A:p.E413E exonic ENSG00000188782 NA synonymous SNV ENSG00000188782:ENST00000338855:exon9:c.G1239A:p.E413E,ENSG00000188782:ENST00000456354:exon9:c.G1239A:p.E413E Score=464;Name=lod=103 NA 1p36.11 NA Name=JunD,ELF1_(SC-631),HEY1,CEBPB,NF-YB,PU.1,GABP,CTCF_(SC-5916),c-Jun,Egr-1,CCNT2,E2F6,CTCF,E2F6_(H-50),HDAC2_(SC-6296),E2F4,eGFP-JunD,c-Myc,Rad21,TAL1_(SC-12984),CHD2_(N-1250),Max Name=91 NA rs41310785 0.03 0.03 0.026 0.0227636 0.0805 NA 0.036 0.0023 0.0051 0.07 NA 0.05 0.002 0.0534 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 -0.155718 NA NA 0.088023 0.014526 NA 0.007 NA 8.4447436 816 5 73981270 73981270 T C exonic HEXB NA nonsynonymous SNV HEXB:NM_000521:exon1:c.T185C:p.L62S exonic ENSG00000049860 NA nonsynonymous SNV ENSG00000049860:ENST00000261416:exon1:c.T185C:p.L62S NA NA 5q13.3 NA Name=EBF1_(C-8),CTCF NA NA rs820878 0.98 0.98 0.965 0.98143 0.9592 1 0.9827 0.9977 0.9622 0.95 1 0.98 1 0.9708 1 1 T . . . . 0.013 N 1.000 P . . -0.42 T -0.909 T 0.000 T 0.191 -0.176 3.141 3.99 0.476 0.963 8.757 -0.176214 NA 1 0.958682 0.990205 ID=COSM450042;OCCURENCE=1(breast) 0.174 CLINSIG=pathogenic;CLNDBN=Sandhoff_disease\x2c_infantile_type;CLNREVSTAT=single;CLNACC=RCV000004086.1;CLNDSDB=MedGen;CLNDSDBID=C1849322 8.4446514 816 19 53669273 53669273 T C exonic ZNF665 NA nonsynonymous SNV ZNF665:NM_024733:exon4:c.A470G:p.H157R exonic ENSG00000197497 NA nonsynonymous SNV ENSG00000197497:ENST00000600412:exon2:c.A275G:p.H92R,ENSG00000197497:ENST00000396424:exon4:c.A470G:p.H157R NA NA 19q13.42 NA Name=SETDB1,KAP1,ZNF274 NA NA rs4801959 0.94 0.94 0.937 0.934704 0.9622 0.8829 0.9597 0.9145 0.9693 0.97 0.9 0.96 0.93 0.9618 0.97 0.13 T 0.0 B 0.0 B . . 1.000 P -0.44 N 3.23 T -1.038 T 0.000 T 0.013 -0.874 0.493 -4.79 -2.606 -4.816 3.920 -0.874327 NA 0.33 0.966456 0.922934 NA 0.942 NA 8.4428774 816 6 46563817 46563817 A T exonic CYP39A1 NA nonsynonymous SNV CYP39A1:NM_016593:exon8:c.T972A:p.N324K exonic ENSG00000146233 NA nonsynonymous SNV ENSG00000146233:ENST00000275016:exon8:c.T972A:p.N324K Score=383;Name=lod=48 NA 6p12.3 NA NA NA NA rs7761731 0.42 0.42 0.425 0.491014 0.2684 0.3859 0.3833 0.7035 0.6176 0.26 0.36 0.37 0.76 0.3562 0.76 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.185 N -1.85 D -1.036 T 0.059 T 0.041 -0.645 1.157 -0.545 -0.349 -0.051 3.807 -0.644802 NA 1 0.266628 0.628007 NA 0.536 NA 8.4421054 816 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 816 11 7022160 7022160 A G exonic ZNF214 NA nonsynonymous SNV ZNF214:NM_013249:exon3:c.T754C:p.C252R exonic ENSG00000149050 NA nonsynonymous SNV ENSG00000149050:ENST00000278314:exon3:c.T754C:p.C252R,ENSG00000149050:ENST00000536068:exon4:c.T754C:p.C252R Score=284;Name=lod=19 NA 11p15.4 NA NA NA NA rs2857919 0.92 0.92 0.904 0.909545 0.9712 1 0.964 0.7269 0.9611 0.97 1 0.96 0.71 0.9512 1 0.01 D 0.001 B 0.001 B 0.142 N 0.987 P 4.39 H 1.05 T -0.962 T 0.000 T 0.046 0.133 4.716 1.37 -0.000 2.140 0.860 0.133122 NA 0.62 0.969157 0.745797 NA 0.935 NA 8.4417764 816 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 816 11 117982495 117982495 T G exonic TMPRSS4 NA nonsynonymous SNV TMPRSS4:NM_001173552:exon7:c.T503G:p.V168G,TMPRSS4:NM_001083947:exon8:c.T608G:p.V203G,TMPRSS4:NM_001173551:exon8:c.T617G:p.V206G,TMPRSS4:NM_019894:exon8:c.T623G:p.V208G exonic ENSG00000137648 NA nonsynonymous SNV ENSG00000137648:ENST00000522151:exon7:c.T464G:p.V155G,ENSG00000137648:ENST00000523251:exon7:c.T503G:p.V168G,ENSG00000137648:ENST00000437212:exon8:c.T623G:p.V208G,ENSG00000137648:ENST00000519236:exon8:c.T617G:p.V206G,ENSG00000137648:ENST00000522307:exon8:c.T182G:p.V61G,ENSG00000137648:ENST00000522824:exon8:c.T608G:p.V203G,ENSG00000137648:ENST00000534111:exon8:c.T617G:p.V206G Score=403;Name=lod=58 NA 11q23.3 Score=829;Name=V$RREB1_01 NA NA NA rs1941635 0.96 0.96 0.987 0.979233 0.9672 0.995 0.9669 0.9932 0.9652 0.96 0.99 0.94 0.96 0.9647 0.99 1 T 0.0 B 0.0 B 0.000 N 0.411 P -3.72 N 1.73 T -0.968 T 0.000 T 0.424 -1.519 0.016 3.94 0.477 5.822 7.201 -1.518623 NA 1 0.961243 0.986136 NA 0.986 NA 8.4401904 816 14 57741550 57741550 A G exonic AP5M1 NA synonymous SNV AP5M1:NM_018229:exon2:c.A663G:p.Q221Q exonic ENSG00000053770 NA synonymous SNV ENSG00000053770:ENST00000261558:exon2:c.A663G:p.Q221Q,ENSG00000053770:ENST00000431972:exon3:c.A705G:p.Q235Q Score=562;Name=lod=257 NA 14q22.3 Score=857;Name=V$OCT1_05 NA Name=15 NA rs1189899 0.23 0.23 0.267 0.272364 0.0567 0.0655 0.0879 0.8321 0.0818 0.06 0.05 0.1 0.82 0.1134 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 0.88189 NA NA 0.05667 0.654182 NA 0.326 NA 8.4398966 816 1 156561651 156561651 G C exonic APOA1BP NA nonsynonymous SNV APOA1BP:NM_144772:exon1:c.G55C:p.V19L exonic ENSG00000163382 NA nonsynonymous SNV ENSG00000163382:ENST00000368233:exon1:c.G55C:p.V19L,ENSG00000163382:ENST00000368234:exon1:c.G55C:p.V19L,ENSG00000163382:ENST00000368235:exon1:c.G55C:p.V19L Score=313;Name=lod=25 NA 1q23.1 NA Name=HA-E2F1,Pol2,Pol2(phosphoS2),E2F6_(H-50),HMGN3,TAF1,Nrf1,Sin3Ak-20,AP-2alpha,CCNT2,Egr-1,AP-2gamma Name=140 NA rs7516274 0.95 0.95 0.962 0.928714 0.9592 0.9722 0.9568 0.8638 0.9202 0.96 0.97 0.96 0.88 0.9575 0.98 1 T 0.0 B 0.0 B 0.084 N 1.000 P -1.1 N 1.61 T -0.944 T 0.009 T 0.016 -0.812 0.643 1.94 0.354 0.968 5.944 -0.812431 NA 1 0.977 0.888889 NA 0.623 NA 8.4396334 816 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 816 15 72191266 72191266 C T exonic MYO9A NA nonsynonymous SNV MYO9A:NM_006901:exon25:c.G3578A:p.G1193E exonic ENSG00000066933 NA nonsynonymous SNV ENSG00000066933:ENST00000566885:exon23:c.G2438A:p.G813E,ENSG00000066933:ENST00000444904:exon24:c.G3521A:p.G1174E,ENSG00000066933:ENST00000356056:exon25:c.G3578A:p.G1193E,ENSG00000066933:ENST00000424560:exon25:c.G3578A:p.G1193E,ENSG00000066933:ENST00000564571:exon25:c.G3578A:p.G1193E Score=565;Name=lod=263 NA 15q23 NA NA NA NA rs2415129 0.88 0.88 0.878 0.891973 0.9761 0.8254 0.964 0.7965 0.9519 0.97 0.78 0.96 0.78 0.9447 0.97 1 T 0.0 B 0.0 B . . 1.000 P -0.55 N -1.64 D -0.938 T 0.000 T 0.057 -1.115 0.13 3.75 0.219 2.471 8.302 -1.114851 NA 0.79 0.973121 0.828331 NA 0.884 NA 8.4394124 816 11 18194878 18194878 T G exonic MRGPRX4 NA nonsynonymous SNV MRGPRX4:NM_054032:exon1:c.T75G:p.N25K exonic ENSG00000179817 NA nonsynonymous SNV ENSG00000179817:ENST00000314254:exon1:c.T75G:p.N25K NA NA 11p15.1 NA NA NA NA rs2445180 0.34 0.34 0.304 0.330272 0.3072 0.4375 0.3415 0.2557 0.3364 0.32 0.48 0.33 0.23 0.3027 0.48 0.94 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N -0.08 T -1.021 T 0.000 T 0.025 -2.226 0.005 -4.82 -2.245 -0.930 4.565 -2.225888 NA 1 0.285115 0.246021 NA 0.21 NA 8.4383184 816 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 816 X 55651001 55651001 T C exonic FOXR2 NA nonsynonymous SNV FOXR2:NM_198451:exon1:c.T857C:p.V286A exonic ENSG00000189299 NA nonsynonymous SNV ENSG00000189299:ENST00000339140:exon1:c.T857C:p.V286A NA NA Xp11.21 NA Name=TCF4 Name=5 NA rs2375465 0.86 0.86 0.83386 NA NA NA NA NA NA 0.98 1 0.93 0.46 0.9237 1 1 T 0.0 B 0.001 B 0.629 N 1.000 P -1.175 N -3.16 D -0.969 T 0.000 T 0.037 -1.103 0.14 1.2 -0.090 0.685 4.416 -1.103155 NA NA 0.972949 0.500391 NA 0.565 NA 8.4366844 817 11 8959545 8959545 C A exonic ASCL3 NA nonsynonymous SNV ASCL3:NM_020646:exon2:c.G164T:p.R55L exonic ENSG00000176009 NA nonsynonymous SNV ENSG00000176009:ENST00000531618:exon1:c.G164T:p.R55L,ENSG00000176009:ENST00000325884:exon2:c.G164T:p.R55L NA NA 11p15.4 NA NA NA NA rs4909951 0.6 0.6 0.558 0.545727 0.6392 0.7113 0.6916 0.3003 0.5072 0.64 0.75 0.64 0.33 0.6165 0.75 0.89 T 0.0 B 0.0 B 0.471 N 1.000 P -0.975 N -4.21 D -0.940 T 0.000 T 0.055 -0.212 2.974 4.57 0.424 2.572 11.732 -0.211794 NA 1 0.644121 0.35711 NA 0.507 NA 8.4335124 817 14 57676330 57676330 G T exonic EXOC5 NA synonymous SNV EXOC5:NM_006544:exon17:c.C1893A:p.A631A exonic ENSG00000070367 NA synonymous SNV ENSG00000070367:ENST00000340918:exon16:c.C1698A:p.A566A,ENSG00000070367:ENST00000413566:exon17:c.C1893A:p.A631A Score=750;Name=lod=1495 NA 14q22.3 NA Name=GATA3_(SC-268) Name=71 NA rs1804820 0.24 0.24 0.275 0.278754 0.0577 0.0883 0.0994 0.8442 0.0654 0.06 0.08 0.11 0.81 0.118 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 0.899776 NA NA 0.057627 0.669363 NA 0.326 NA 8.4333396 817 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 817 16 56904587 56904587 C G exonic SLC12A3 NA nonsynonymous SNV SLC12A3:NM_000339:exon6:c.C791G:p.A264G,SLC12A3:NM_001126107:exon6:c.C788G:p.A263G,SLC12A3:NM_001126108:exon6:c.C791G:p.A264G exonic ENSG00000070915 NA nonsynonymous SNV ENSG00000070915:ENST00000262502:exon6:c.C788G:p.A263G,ENSG00000070915:ENST00000438926:exon6:c.C791G:p.A264G,ENSG00000070915:ENST00000563236:exon6:c.C791G:p.A264G,ENSG00000070915:ENST00000566786:exon6:c.C788G:p.A263G Score=498;Name=lod=141 NA 16q13 NA NA NA NA rs1529927 0.98 0.98 0.982 0.990615 0.9612 1 0.9899 1 0.999 0.95 1 0.99 1 0.9756 1 1 T 0.0 B 0.0 B 0.000 N 0.977 P -1.765 N . . -0.925 T 0.000 T 0.308 -0.149 3.273 4.94 1.075 7.970 15.451 -0.148654 NA 1 0.963256 0.992721 NA 0.971 NA 8.4332774 817 1 62713224 62713224 C G exonic KANK4 NA nonsynonymous SNV KANK4:NM_181712:exon9:c.G2803C:p.V935L exonic ENSG00000132854 NA nonsynonymous SNV ENSG00000132854:ENST00000317477:exon3:c.G217C:p.V73L,ENSG00000132854:ENST00000371150:exon6:c.G871C:p.V291L,ENSG00000132854:ENST00000354381:exon8:c.G919C:p.V307L,ENSG00000132854:ENST00000371153:exon9:c.G2803C:p.V935L Score=499;Name=lod=142 NA 1p31.3 Score=781;Name=V$AHR_01 NA Name=7 NA rs2941679 0.98 0.98 0.984 0.986222 0.9672 1 0.9914 0.9962 0.9744 0.96 1 0.99 0.99 0.9744 1 0.3 T 0.0 B 0.001 B 0.163 N 1.000 P -0.94 N 0.08 T -0.996 T 0.000 T 0.104 2.157 13.17 2.62 0.560 0.698 9.007 2.15698 2.15698 0.18 0.959767 0.992283 NA 0.993 NA 8.4319664 817 12 113325629 113325629 T C exonic RPH3A NA synonymous SNV RPH3A:NM_014954:exon16:c.T1452C:p.F484F,RPH3A:NM_001143854:exon17:c.T1464C:p.F488F exonic ENSG00000089169 NA synonymous SNV ENSG00000089169:ENST00000420983:exon15:c.T1464C:p.F488F,ENSG00000089169:ENST00000548866:exon15:c.T1317C:p.F439F,ENSG00000089169:ENST00000415485:exon16:c.T1464C:p.F488F,ENSG00000089169:ENST00000551052:exon16:c.T1452C:p.F484F,ENSG00000089169:ENST00000389385:exon17:c.T1464C:p.F488F,ENSG00000089169:ENST00000447659:exon17:c.T1317C:p.F439F,ENSG00000089169:ENST00000543106:exon17:c.T1464C:p.F488F Score=573;Name=lod=283 NA 12q24.13 Score=829;Name=V$SRF_Q6 Name=STAT3 Name=5 NA rs4141253 0.5 0.5 0.48 0.521565 0.4165 0.623 0.5735 0.5446 0.4571 0.41 0.6 0.54 0.5 0.4269 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.0791 NA NA 0.394186 0.501589 NA 0.558 NA 8.4290806 817 10 12191933 12191933 C T exonic SEC61A2 NA synonymous SNV SEC61A2:NM_001142628:exon5:c.C369T:p.A123A,SEC61A2:NM_001142627:exon6:c.C435T:p.A145A,SEC61A2:NM_018144:exon6:c.C435T:p.A145A exonic ENSG00000065665 NA synonymous SNV ENSG00000065665:ENST00000379033:exon5:c.C369T:p.A123A,ENSG00000065665:ENST00000298428:exon6:c.C435T:p.A145A,ENSG00000065665:ENST00000304267:exon6:c.C435T:p.A145A,ENSG00000065665:ENST00000379017:exon6:c.C435T:p.A145A,ENSG00000065665:ENST00000379020:exon6:c.C435T:p.A145A,ENSG00000065665:ENST00000379051:exon6:c.C435T:p.A145A,ENSG00000065665:ENST00000472221:exon6:c.C435T:p.A145A,ENSG00000065665:ENST00000475268:exon6:c.C435T:p.A145A Score=464;Name=lod=103 NA 10p14 NA NA NA NA rs10466280 0.44 0.44 0.416 0.424321 0.4056 0.5258 0.4986 0.41 0.3057 0.42 0.52 0.46 0.37 0.4165 0.52 . . . . . . . . 0.000 P . . . . -0.931 T 0.000 T . 0.235 5.271 -3.7 -1.051 -0.009 6.678 0.235421 NA NA 0.416628 0.41852 NA 0.362 NA 8.4279386 817 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 817 17 79173184 79173184 T C exonic AZI1 NA nonsynonymous SNV AZI1:NM_001009811:exon10:c.A1189G:p.T397A,AZI1:NM_014984:exon10:c.A1189G:p.T397A exonic ENSG00000141577 NA nonsynonymous SNV ENSG00000141577:ENST00000269392:exon10:c.A1189G:p.T397A,ENSG00000141577:ENST00000374782:exon10:c.A1189G:p.T397A,ENSG00000141577:ENST00000450824:exon10:c.A1189G:p.T397A,ENSG00000141577:ENST00000575907:exon10:c.A1189G:p.T397A NA NA 17q25.3 Score=865;Name=V$FOXJ2_02 NA NA NA rs2659015 0.93 0.93 0.929 0.940695 0.9732 0.9623 0.9669 0.8684 0.9642 0.97 0.96 0.96 0.83 0.9606 0.97 1 T 0.0 B 0.002 B 0.080 N 1.000 P -0.63 N 1.36 T -0.924 T 0.000 T 0.025 -1.356 0.028 -4.27 -2.290 -2.243 13.911 -1.35555 NA 0.51 0.972753 0.888838 NA 0.949 NA 8.4267804 817 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$PAX5_02 Name=NRSF NA NA rs1127065 0.35 0.35 0.329 0.341653 0.4076 0.3998 0.3213 0.1694 0.4611 0.42 0.4 0.33 0.19 0.4064 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.617115 1.617115 NA 0.427093 0.227871 ID=COSM453109;OCCURENCE=1(breast) 0.275 NA 8.4255736 817 16 20410547 20410547 C T exonic PDILT NA nonsynonymous SNV PDILT:NM_174924:exon2:c.G76A:p.A26T exonic ENSG00000169340 NA nonsynonymous SNV ENSG00000169340:ENST00000302451:exon2:c.G76A:p.A26T,ENSG00000169340:ENST00000575561:exon2:c.G76A:p.A26T NA NA 16p12.3 NA NA NA NA rs9926580 0.31 0.31 0.296 0.341853 0.3091 0.1508 0.3876 0.4637 0.3753 0.31 0.16 0.4 0.43 0.3127 0.43 0.66 T 0.007 B 0.001 B 0.353 N 1.000 P 0 N 4.08 T -0.931 T 0.000 T 0.385 0.297 5.611 -2.28 -0.397 -5.759 3.817 0.297465 NA 0.6 0.286395 0.424648 NA 0.254 NA 8.4251384 818 20 48522330 48522330 G A exonic SPATA2 NA synonymous SNV SPATA2:NM_001135773:exon3:c.C1389T:p.C463C,SPATA2:NM_006038:exon3:c.C1389T:p.C463C exonic ENSG00000158480 NA synonymous SNV ENSG00000158480:ENST00000543716:exon2:c.C978T:p.C326C,ENSG00000158480:ENST00000289431:exon3:c.C1389T:p.C463C,ENSG00000158480:ENST00000422556:exon3:c.C1389T:p.C463C Score=488;Name=lod=128 Name=Psoriasis 20q13.13 Score=743;Name=V$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 818 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 818 12 82792666 82792666 C T exonic METTL25 NA synonymous SNV METTL25:NM_032230:exon4:c.C624T:p.T208T exonic ENSG00000127720 NA synonymous SNV ENSG00000127720:ENST00000248306:exon4:c.C624T:p.T208T,ENSG00000127720:ENST00000548200:exon4:c.C624T:p.T208T Score=668;Name=lod=691 NA 12q21.31 NA NA NA NA rs10506872 0.04 0.04 0.032 0.0423323 0.0805 0.002 0.0591 0.0189 0.0644 0.07 0.0017 0.06 0.02 0.0667 0.095 . . . . . . . . 1.000 D . . . . -1.152 T 0.007 T . 0.603 7.25 0.871 -0.274 0.943 7.012 0.603078 NA NA 0.095138 0.033364 NA 0.043 NA 8.4243286 818 11 18194964 18194964 A G exonic MRGPRX4 NA nonsynonymous SNV MRGPRX4:NM_054032:exon1:c.A161G:p.Y54C exonic ENSG00000179817 NA nonsynonymous SNV ENSG00000179817:ENST00000314254:exon1:c.A161G:p.Y54C NA NA 11p15.1 NA Name=PU.1 NA NA rs1869788 0.38 0.38 0.336 0.368411 0.3072 0.4415 0.3559 0.3873 0.3395 0.32 0.48 0.34 0.37 0.3154 0.48 0.05 D 0.0 B 0.0 B 0.007 N 1.000 P -0.515 N 2.99 T -0.928 T 0.000 T 0.037 0.239 5.292 0.397 -0.398 -0.336 5.425 0.239257 NA 0.09 0.286862 0.369486 NA 0.275 NA 8.4238714 818 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 818 1 117554421 117554421 A G exonic CD101 NA nonsynonymous SNV CD101:NM_001256106:exon3:c.A674G:p.N225S,CD101:NM_001256109:exon3:c.A674G:p.N225S,CD101:NM_001256111:exon3:c.A488G:p.N163S,CD101:NM_004258:exon3:c.A674G:p.N225S exonic ENSG00000134256 NA nonsynonymous SNV ENSG00000134256:ENST00000256652:exon3:c.A674G:p.N225S,ENSG00000134256:ENST00000369470:exon3:c.A674G:p.N225S Score=321;Name=lod=27 NA 1p13.1 NA NA NA NA rs3754112 0.17 0.17 0.144 0.150359 0.337 0.0635 0.2017 0.0348 0.1677 0.31 0.06 0.25 0.03 0.2482 0.32 0.14 T 0.0 B 0.001 B 0.287 N 0.992 P 0 N -0.07 T -1.082 T 0.038 T 0.007 0.812 8.266 -2.28 -0.239 0.914 6.094 0.812367 NA 0.01 0.324884 0.08897 ID=COSM1178399;OCCURENCE=1(prostate) 0.152 NA 8.4232494 818 17 58786625 58786625 A G exonic BCAS3 NA nonsynonymous SNV BCAS3:NM_001099432:exon5:c.A260G:p.N87S,BCAS3:NM_017679:exon5:c.A260G:p.N87S exonic ENSG00000141376 NA nonsynonymous SNV ENSG00000141376:ENST00000408905:exon4:c.A260G:p.N87S,ENSG00000141376:ENST00000588462:exon4:c.A260G:p.N87S,ENSG00000141376:ENST00000390652:exon5:c.A260G:p.N87S,ENSG00000141376:ENST00000407086:exon5:c.A260G:p.N87S,ENSG00000141376:ENST00000588168:exon5:c.A260G:p.N87S,ENSG00000141376:ENST00000589222:exon5:c.A260G:p.N87S Score=554;Name=lod=237 NA 17q23.2 NA NA NA NA rs2643103 0.78 0.78 0.737 0.748802 0.993 0.8958 0.9366 0.2118 0.9387 0.99 0.89 0.94 0.22 0.9258 0.99 0.86 T 0.206 B 0.054 B 0.000 N 0.000 P 1.5 L 3.44 T -0.906 T 0.000 T 0.126 2.057 12.84 4.76 1.040 2.655 11.302 2.05727 2.05727 0.73 0.993076 0.397456 NA 0.746 NA 8.4214574 818 12 57109931 57109931 A T exonic NACA NA nonsynonymous SNV NACA:NM_001113203:exon5:c.T1924A:p.S642T exonic ENSG00000196531 NA nonsynonymous SNV ENSG00000196531:ENST00000454682:exon3:c.T5383A:p.S1795T,ENSG00000196531:ENST00000550952:exon5:c.T1924A:p.S642T NA NA 12q13.3 NA Name=Pol2 Name=3 NA rs2926747 0.64 0.64 0.559 0.648562 0.6262 0.7421 0.6744 0.4826 0.7812 0.61 0.74 0.7 0.5 0.665 0.74 0.33 T 0.0 B 0.0 B . . 1.000 P 0 N 1.02 T -1.006 T 0.000 T 0.018 -0.844 0.563 2.55 0.051 -0.595 4.162 -0.844356 NA 0.33 0.62158 0.520727 NA 0.616 NA 8.4205534 818 3 81643167 81643167 T C exonic GBE1 NA nonsynonymous SNV GBE1:NM_000158:exon8:c.A1000G:p.I334V exonic ENSG00000114480 NA nonsynonymous SNV ENSG00000114480:ENST00000429644:exon8:c.A1000G:p.I334V,ENSG00000114480:ENST00000489715:exon8:c.A877G:p.I293V Score=648;Name=lod=573 NA 3p12.2 NA NA NA NA rs2172397 0.99 0.99 0.99 0.983626 0.9682 0.999 0.9885 0.9985 0.9601 0.97 1 0.99 1 0.9728 1 1 T 0.0 B 0.001 B 0.000 N 0.999 P -2.985 N -1.21 T -0.923 T 0.000 T 0.193 -0.017 3.928 5.65 1.402 5.597 14.493 -0.016658 NA 1 0.971793 0.996128 NA 0.986 NA 8.4205404 818 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),TBP,CTCF,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 818 17 8243469 8243469 T C exonic ODF4 NA nonsynonymous SNV ODF4:NM_153007:exon1:c.T100C:p.W34R exonic ENSG00000184650 NA nonsynonymous SNV ENSG00000184650:ENST00000328248:exon1:c.T100C:p.W34R,ENSG00000184650:ENST00000584943:exon1:c.T100C:p.W34R NA NA 17p13.1 NA NA NA NA rs12943505 0.21 0.21 0.192 0.179113 0.3469 0.0675 0.3963 0.0151 0.1892 0.35 0.08 0.38 0.02 0.2652 0.38 0.84 T 0.01 B 0.017 B 0.108 N 1.000 P 0.895 L 1.66 T -0.976 T 0.000 T 0.088 0.029 4.163 -2.74 -0.593 -1.952 5.487 0.028769 NA NA 0.301047 0.059237 NA 0.239 NA 8.4201864 818 14 95053890 95053890 G A exonic SERPINA5 NA nonsynonymous SNV SERPINA5:NM_000624:exon3:c.G191A:p.S64N exonic ENSG00000188488 NA nonsynonymous SNV ENSG00000188488:ENST00000553511:exon2:c.G191A:p.S64N,ENSG00000188488:ENST00000554220:exon2:c.G191A:p.S64N,ENSG00000188488:ENST00000554276:exon2:c.G191A:p.S64N,ENSG00000188488:ENST00000554866:exon2:c.G191A:p.S64N,ENSG00000188488:ENST00000555681:exon2:c.G191A:p.S64N,ENSG00000188488:ENST00000557598:exon2:c.G191A:p.S64N,ENSG00000188488:ENST00000329597:exon3:c.G191A:p.S64N,ENSG00000188488:ENST00000554760:exon3:c.G191A:p.S64N,ENSG00000188488:ENST00000556775:exon3:c.G191A:p.S64N,ENSG00000188488:ENST00000553780:exon4:c.G191A:p.S64N,ENSG00000188488:ENST00000554633:exon4:c.G191A:p.S64N Score=439;Name=lod=81 NA 14q32.13 NA NA NA NA rs6115 0.59 0.59 0.646 0.621206 0.6382 0.4266 0.451 0.947 0.4847 0.64 0.37 0.49 0.84 0.6152 0.89 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.165 N -0.6 T -0.943 T 0.000 T 0.199 -1.096 0.146 4.11 0.745 6.683 9.079 -1.096347 NA 1 0.661279 0.892419 NA 0.522 NA 8.4186544 818 7 36320821 36320821 G A exonic EEPD1 NA nonsynonymous SNV EEPD1:NM_030636:exon4:c.G1028A:p.S343N exonic ENSG00000122547 NA nonsynonymous SNV ENSG00000122547:ENST00000242108:exon4:c.G1028A:p.S343N,ENSG00000122547:ENST00000534978:exon5:c.G1028A:p.S343N NA NA 7p14.2 NA Name=BAF155,Pol2,Ini1,TAF1 NA NA rs196586 0.94 0.94 0.925 0.941693 0.9751 0.9712 0.9568 0.8646 0.9703 0.98 0.96 0.95 0.84 0.9617 0.98 0.54 T 0.0 B 0.002 B 0.185 N 1.000 P 0.345 N -3.66 D -0.971 T 0.000 T 0.008 0.65 7.485 2.51 0.067 1.064 6.01 0.649546 NA 0.63 0.978488 0.870858 NA 0.928 NA 8.4180454 818 14 44975606 44975606 G T exonic FSCB NA nonsynonymous SNV FSCB:NM_032135:exon1:c.C585A:p.H195Q exonic ENSG00000189139 NA nonsynonymous SNV ENSG00000189139:ENST00000340446:exon1:c.C585A:p.H195Q NA NA 14q21.2 NA NA NA NA rs3809429 0.25 0.25 0.244 0.271565 0.1193 0.3968 0.3055 0.2859 0.2556 0.11 0.39 0.27 0.28 0.186 0.39 0.45 T 0.6 P 0.275 B . . 1.000 P 1.67 L 1.86 T -0.937 T 0.000 T 0.079 1.078 9.402 -2.28 -0.303 -0.134 4.829 1.078233 NA 0.23 0.110116 0.268951 ID=COSM147771;OCCURENCE=1(stomach) 0.246 NA 8.4179174 818 17 28320248 28320248 T A exonic EFCAB5 NA nonsynonymous SNV EFCAB5:NM_001145053:exon5:c.T665A:p.I222K,EFCAB5:NM_198529:exon5:c.T833A:p.I278K exonic ENSG00000176927 NA nonsynonymous SNV ENSG00000176927:ENST00000419434:exon2:c.T251A:p.I84K,ENSG00000176927:ENST00000320856:exon5:c.T833A:p.I278K,ENSG00000176927:ENST00000378738:exon5:c.T833A:p.I278K,ENSG00000176927:ENST00000394832:exon5:c.T833A:p.I278K,ENSG00000176927:ENST00000394835:exon5:c.T833A:p.I278K,ENSG00000176927:ENST00000440741:exon5:c.T833A:p.I278K,ENSG00000176927:ENST00000536908:exon5:c.T665A:p.I222K NA NA 17q11.2 NA NA Name=5 NA rs4795524 0.98 0.98 0.987 0.98742 0.9632 1 0.9697 0.9992 0.9959 0.97 1 0.96 1 0.9818 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P . . 1.37 T -0.921 T 0.000 T 0.261 -1.402 0.023 5.26 1.017 2.475 8.469 -1.40219 NA 1 0.970646 0.996006 NA 1 NA 8.4176874 818 14 20404735 20404735 C T exonic OR4K1 NA nonsynonymous SNV OR4K1:NM_001004063:exon1:c.C910T:p.R304C exonic ENSG00000155249 NA nonsynonymous SNV ENSG00000155249:ENST00000285600:exon1:c.C910T:p.R304C NA NA 14q11.2 NA NA NA NA rs34394400 0.24 0.24 0.197 0.234425 0.3211 0.1974 0.2363 0.1195 0.3374 0.34 0.18 0.26 0.13 0.2827 0.34 0.01 D 0.986 D 0.359 B 0.250 N 1.000 P 1.235 L 1.33 T -0.950 T 0.000 T 0.099 0.711 7.788 0.607 0.209 0.468 7.838 0.711016 NA 0.03 0.312558 0.144349 NA 0.297 NA 8.4169754 818 6 170628009 170628009 T G exonic FAM120B NA nonsynonymous SNV FAM120B:NM_032448:exon2:c.T1531G:p.C511G exonic ENSG00000112584 NA nonsynonymous SNV ENSG00000112584:ENST00000366751:exon2:c.T1531G:p.C511G,ENSG00000112584:ENST00000476287:exon2:c.T1531G:p.C511G,ENSG00000112584:ENST00000537664:exon2:c.T1600G:p.C534G,ENSG00000112584:ENST00000540480:exon2:c.T1567G:p.C523G NA NA 6q27 NA NA NA NA rs9348266 0.17 0.17 0.155 0.159545 0.1252 0.2817 0.2046 0.0749 0.1513 0.13 0.28 0.17 0.1 0.15 0.28 0.38 T 0.545 P 0.196 B . . 1.000 P 1.04 L 2.87 T -0.942 T 0.005 T 0.083 -0.224 2.916 -1.96 -0.415 -1.014 1.107 -0.224297 NA NA 0.141279 0.095778 NA 0.101 NA 8.4168544 818 6 151674326 151674326 A C exonic AKAP12 NA nonsynonymous SNV AKAP12:NM_144497:exon2:c.A4506C:p.E1502D,AKAP12:NM_005100:exon4:c.A4800C:p.E1600D exonic ENSG00000131016 NA nonsynonymous SNV ENSG00000131016:ENST00000354675:exon2:c.A4506C:p.E1502D,ENSG00000131016:ENST00000359755:exon2:c.A4485C:p.E1495D,ENSG00000131016:ENST00000253332:exon3:c.A4800C:p.E1600D,ENSG00000131016:ENST00000402676:exon4:c.A4800C:p.E1600D NA NA 6q25.1 NA Name=USF-1 Name=15 NA rs3823310 0.52 0.52 0.491 0.438898 0.668 0.4355 0.5476 0.2201 0.4254 0.67 0.48 0.58 0.29 0.5798 0.67 0.41 T 0.003 B 0.006 B 0.045 N 1.000 P -0.145 N 3.19 T -0.940 T 0.002 T 0.034 0.573 7.096 -4.35 -0.789 -0.729 2.002 0.573064 NA 0.52 0.66907 0.325011 NA 0.529 NA 8.4164634 818 1 201969082 201969082 G A exonic RNPEP NA synonymous SNV RNPEP:NM_020216:exon6:c.G1143A:p.Q381Q exonic ENSG00000176393 NA synonymous SNV ENSG00000176393:ENST00000367286:exon5:c.G1026A:p.Q342Q,ENSG00000176393:ENST00000295640:exon6:c.G1143A:p.Q381Q,ENSG00000176393:ENST00000447312:exon6:c.G750A:p.Q250Q Score=428;Name=lod=73 NA 1q32.1 Score=881;Name=V$MYCMAX_02 Name=Pol2,CTCF Name=128 NA rs1130790 0.37 0.37 0.355 0.308506 0.4284 0.3978 0.438 0.1558 0.2076 0.42 0.45 0.44 0.15 0.389 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.358108 1.358108 NA 0.432907 0.182025 ID=COSM146734;OCCURENCE=1(breast),1(stomach) 0.493 NA 8.4163596 818 16 90141355 90141355 A C exonic PRDM7 NA nonsynonymous SNV PRDM7:NM_001098173:exon3:c.T270G:p.D90E exonic ENSG00000126856 NA nonsynonymous SNV ENSG00000126856:ENST00000564210:exon2:c.T146G:p.I49S,ENSG00000126856:ENST00000449207:exon3:c.T270G:p.D90E,ENSG00000126856:ENST00000568473:exon3:c.T270G:p.D90E NA NA 16q24.3 NA NA NA NA rs12925933 0.41 0.41 0.366 0.390575 0.6779 0.1905 0.513 0.1551 0.5327 0.66 0.2 0.59 0.13 0.5567 0.68 . . 0.999 D 0.991 D . . 1.000 P 1.39 L 2.77 T -0.958 T 0.000 T 0.075 2.832 15.43 0.141 0.019 1.107 3.472 2.832471 2.832471 0.38 0.682424 0.235154 NA 0.312 NA 8.4163094 818 3 121208833 121208833 G C exonic POLQ NA nonsynonymous SNV POLQ:NM_199420:exon16:c.C2945G:p.T982R exonic ENSG00000051341 NA nonsynonymous SNV ENSG00000051341:ENST00000264233:exon16:c.C2945G:p.T982R NA NA 3q13.33 NA NA NA NA rs3218649 0.67 0.67 0.658 0.696486 0.6143 0.876 0.634 0.5424 0.8487 0.61 0.89 0.62 0.52 0.6741 0.89 0.54 T 0.0 B 0.0 B 0.053 N 1.000 P -0.345 N 0.82 T -1.009 T 0.000 T 0.028 -1.438 0.02 -3.86 -1.432 -2.240 8.791 -1.438016 NA 0.55 0.628635 0.552249 NA 0.601 NA 8.4162984 818 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 818 11 102980324 102980324 C T exonic DYNC2H1 NA synonymous SNV DYNC2H1:NM_001080463:exon1:c.C21T:p.D7D,DYNC2H1:NM_001377:exon1:c.C21T:p.D7D exonic ENSG00000187240 NA synonymous SNV ENSG00000187240:ENST00000334267:exon1:c.C21T:p.D7D,ENSG00000187240:ENST00000375735:exon1:c.C21T:p.D7D,ENSG00000187240:ENST00000398093:exon1:c.C21T:p.D7D Score=349;Name=lod=35 NA 11q22.3 NA Name=CEBPB,PU.1,BAF155,JunD,YY1_(C-20),TAF1 Name=148 NA rs17301028 0.04 0.04 0.048 0.0411342 0.0795 0.001 0.0476 0.003 0.09 0.08 NA 0.05 0.01 0.0761 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 0.860084 NA NA 0.095981 0.018964 NA 0.029 NA 8.4150856 819 12 25148755 25148755 C G exonic C12orf77 NA nonsynonymous SNV C12orf77:NM_001101339:exon3:c.G393C:p.L131F exonic ENSG00000226397 NA nonsynonymous SNV ENSG00000226397:ENST00000434912:exon3:c.G228C:p.L76F,ENSG00000226397:ENST00000549262:exon3:c.G228C:p.L76F,ENSG00000226397:ENST00000549828:exon3:c.G393C:p.L131F NA NA 12p12.1 NA NA NA NA rs864161 0.97 0.97 0.962 0.949281 0.9553 1 0.9726 0.8616 0.9928 1 1 0.99 0.87 0.9636 1 0 D 0.0 B 0.0 B . . 1.000 P 0 N 0.39 T -0.972 T 0.000 T 0.131 0 4.014 -5.45 -3.597 -4.154 7.642 -0.000074 NA NA 0.999877 0.883224 NA 0.957 NA 8.4145564 819 10 99240758 99240758 G C exonic MMS19 NA nonsynonymous SNV MMS19:NM_022362:exon3:c.C203G:p.A68G exonic ENSG00000155229 NA nonsynonymous SNV ENSG00000155229:ENST00000327238:exon3:c.C203G:p.A68G,ENSG00000155229:ENST00000355839:exon3:c.C203G:p.A68G,ENSG00000155229:ENST00000422685:exon3:c.C203G:p.A68G,ENSG00000155229:ENST00000437002:exon3:c.C203G:p.A68G,ENSG00000155229:ENST00000438925:exon3:c.C203G:p.A68G,ENSG00000155229:ENST00000439048:exon3:c.C203G:p.A68G,ENSG00000155229:ENST00000448660:exon3:c.C197G:p.A66G,ENSG00000155229:ENST00000370782:exon4:c.C203G:p.A68G Score=608;Name=lod=396 NA 10q24.1 NA NA NA NA rs2275586 0.95 0.95 0.957 0.9375 0.9761 0.9613 0.9769 0.8797 0.9233 0.98 0.97 0.97 0.87 0.9649 0.98 0.86 T 0.0 B 0.001 B 0.000 N 0.000 P -1.52 N 2.9 T -0.955 T 0.000 T 0.293 0.458 6.484 6.08 1.599 3.529 12.692 0.457533 NA 1 0.978251 0.885384 NA 0.87 NA 8.4140824 819 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 819 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$PPARG_03 NA NA NA rs4712056 0.61 0.61 0.622 0.615615 0.6491 0.7331 0.5115 0.4667 0.7352 0.65 0.73 0.52 0.45 0.6302 0.73 . . 0.187 B 0.037 B 0.396 N 1.000 P 0.69 N 1.4 T -1.053 T 0.014 T 0.194 0.629 7.384 -7.97 -1.268 -0.711 1.127 0.629414 NA 0.33 0.640116 0.501816 NA 0.667 NA 8.4139174 819 X 102979486 102979486 T C exonic GLRA4 NA nonsynonymous SNV GLRA4:NM_001024452:exon3:c.A253G:p.I85V,GLRA4:NM_001172285:exon3:c.A253G:p.I85V exonic ENSG00000188828 NA nonsynonymous SNV ENSG00000188828:ENST00000372617:exon3:c.A253G:p.I85V Score=539;Name=lod=207 NA Xq22.2 Score=889;Name=V$ZID_01 NA NA NA rs4907817 0.98 0.98 0.98251 NA NA NA NA NA NA 0.95 1 0.99 1 0.9693 1 0.97 T 0.001 B 0.109 B 0.000 N 0.994 P 0.73 N -0.87 T -0.912 T 0.000 T 0.026 0.223 5.203 4.93 0.616 0.395 8.468 0.22292 NA 0.25 0.950303 0.991951 NA 0.674 NA 8.4137304 819 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 819 12 56092682 56092682 C T exonic ITGA7 NA synonymous SNV ITGA7:NM_001144996:exon6:c.G822A:p.G274G,ITGA7:NM_001144997:exon6:c.G531A:p.G177G,ITGA7:NM_002206:exon6:c.G810A:p.G270G exonic ENSG00000135424 NA synonymous SNV ENSG00000135424:ENST00000556273:exon3:c.G84A:p.G28G,ENSG00000135424:ENST00000557257:exon4:c.G336A:p.G112G,ENSG00000135424:ENST00000257879:exon6:c.G810A:p.G270G,ENSG00000135424:ENST00000347027:exon6:c.G810A:p.G270G,ENSG00000135424:ENST00000394229:exon6:c.G810A:p.G270G,ENSG00000135424:ENST00000394230:exon6:c.G822A:p.G274G,ENSG00000135424:ENST00000452168:exon6:c.G531A:p.G177G,ENSG00000135424:ENST00000553804:exon6:c.G822A:p.G274G,ENSG00000135424:ENST00000257880:exon7:c.G942A:p.G314G,ENSG00000135424:ENST00000555728:exon7:c.G942A:p.G314G Score=640;Name=lod=530 NA 12q13.2 Score=748;Name=V$STAT3_01 NA NA NA rs3847675 0.05 0.05 0.04 0.0349441 0.0994 NA 0.0648 0.0023 0.0276 0.1 NA 0.09 0.002 0.0718 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 0.837593 NA NA 0.082558 0.014299 ID=COSM1562007,COSM1562006;OCCURENCE=1(large_intestine) 0.051 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079990.3;CLNDSDB=.;CLNDSDBID=. 8.4129086 819 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 819 3 183975365 183975365 C T exonic ECE2 NA nonsynonymous SNV ECE2:NM_014693:exon2:c.C301T:p.H101Y,ECE2:NM_032331:exon2:c.C301T:p.H101Y exonic ENSG00000145194 NA nonsynonymous SNV ENSG00000145194:ENST00000324557:exon2:c.C301T:p.H101Y,ENSG00000145194:ENST00000402825:exon2:c.C301T:p.H101Y Score=458;Name=lod=97 NA 3q27.1 NA NA NA NA rs7633387 0.99 0.99 0.991 0.992812 0.9732 1 0.9928 0.9992 0.9969 0.97 1 0.99 1 0.9811 1 0.67 T 0.0 B 0.0 B . . 0.000 P 0.29 N -0.01 T -0.955 T 0.000 T 0.132 0.246 5.326 5.88 1.054 2.290 11.369 0.245535 NA 1 0.966977 0.994553 NA 0.986 NA 8.4120564 819 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 819 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 819 17 80136418 80136418 C T exonic CCDC57 NA nonsynonymous SNV CCDC57:NM_198082:exon10:c.G1438A:p.V480M exonic ENSG00000176155 NA nonsynonymous SNV ENSG00000176155:ENST00000389641:exon10:c.G1438A:p.V480M,ENSG00000176155:ENST00000392347:exon10:c.G1438A:p.V480M,ENSG00000176155:ENST00000392343:exon11:c.G1438A:p.V480M NA NA 17q25.3 NA NA NA NA rs7209474 0.59 0.59 0.581 0.572684 0.4841 0.8631 0.6239 0.4145 0.5419 0.47 0.86 0.59 0.47 0.5103 0.86 0.12 T 0.757 P 0.173 B 0.804 N 1.000 P 1.5 L 2.82 T -0.989 T 0.000 T 0.113 1.478 10.89 -4.43 -0.582 -1.103 1.233 1.477704 1.477704 0.17 0.429616 0.384687 NA 0.536 NA 8.4093174 819 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 819 11 61560081 61560081 G A UTR5 TMEM258 NM_014206:c.-51C>T NA NA UTR5 ENSG00000134825 ENST00000537328:c.-51C>T,ENST00000535297:c.-51C>T,ENST00000543510:c.-2019C>T NA NA Score=403;Name=lod=58 Name=Phospholipid levels (plasma) 11q12.2 Score=837;Name=V$XBP1_01 Name=YY1,PU.1,Pol2(b),ELK4,TBP,PAX5-C20,Sin3Ak-20,SIX5,Oct-2,c-Myc,Nrf1,SRF,YY1_(C-20),ELF1_(SC-631),HEY1,GABP,Pol2-4H8,TAF1,NFKB,Znf143_(16618-1-AP),POU2F2,E2F6_(H-50),TAF7_(SQ-8),HA-E2F1,Pol2,Pol2(phosphoS2) Name=148 NA rs174538 0.31 0.31 0.231 0.282149 0.3131 0.5556 0.572 0.0204 0.1166 0.33 0.4 0.52 0.04 0.3151 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206306 NA NA 0.296115 0.08129 NA 0.275 NA 8.4090184 819 12 132237848 132237848 T C exonic SFSWAP NA nonsynonymous SNV SFSWAP:NM_001261411:exon8:c.T1262C:p.L421P,SFSWAP:NM_004592:exon8:c.T1262C:p.L421P exonic ENSG00000061936 NA nonsynonymous SNV ENSG00000061936:ENST00000535236:exon6:c.T641C:p.L214P,ENSG00000061936:ENST00000261674:exon8:c.T1262C:p.L421P,ENSG00000061936:ENST00000541286:exon8:c.T1262C:p.L421P Score=272;Name=lod=17 NA 12q24.33 NA NA NA NA rs1982528 0.95 0.95 0.93 0.928914 0.9821 0.994 0.9813 0.7753 0.9775 0.99 0.99 0.99 0.79 0.964 0.99 0.4 T 0.0 B 0.0 B 0.000 N 0.007 P -1.995 N 2.89 T -0.962 T 0.000 T 0.241 0.217 5.168 5.41 1.430 2.763 13.022 0.21652 NA 0.35 0.978256 0.825238 NA 0.92 NA 8.4089774 819 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 819 19 9076278 9076278 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.C11168T:p.T3723M exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C11168T:p.T3723M NA NA 19p13.2 NA NA NA NA rs953551 0.26 0.26 0.257 0.25599 0.335 0.254 0.2161 0.2035 0.2761 0.33 0.22 0.24 0.22 0.2808 0.33 0 D 0.001 B 0.0 B . . . . 0 N 4.24 T -0.914 T 0.000 T 0.076 -0.574 1.415 -1.07 -0.903 -1.808 2.453 -0.574322 NA 0.26 0.309204 0.215513 ID=COSM1398117,COSM1398116;OCCURENCE=1(large_intestine) 0.261 NA 8.4083294 819 19 18377761 18377761 A G exonic KIAA1683 NA nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.T589C:p.C197R,KIAA1683:NM_001145305:exon3:c.T451C:p.C151R,KIAA1683:NM_025249:exon3:c.T589C:p.C197R exonic ENSG00000130518 NA nonsynonymous SNV ENSG00000130518:ENST00000392413:exon3:c.T589C:p.C197R,ENSG00000130518:ENST00000600328:exon3:c.T589C:p.C197R,ENSG00000130518:ENST00000600359:exon3:c.T451C:p.C151R NA NA 19p13.11 NA NA NA NA rs12609001 0.14 0.14 0.129 0.152356 0.1292 0.3036 0.1196 0.0257 0.2147 0.12 0.29 0.1 0.03 0.1595 0.29 0.66 T 0.689 P 0.128 B 0.162 N 1.000 P 0.345 N 3.98 T -0.921 T 0.000 T 0.11 0.146 4.784 -2.62 -0.301 -0.505 1.464 0.145746 NA 0.12 0.136374 0.039545 NA 0.094 NA 8.4082594 819 19 18375882 18375882 G C exonic KIAA1683 NA nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.C2468G:p.P823R,KIAA1683:NM_001145305:exon3:c.C2330G:p.P777R,KIAA1683:NM_025249:exon3:c.C2468G:p.P823R exonic ENSG00000130518 NA nonsynonymous SNV ENSG00000130518:ENST00000392413:exon3:c.C2468G:p.P823R,ENSG00000130518:ENST00000600328:exon3:c.C2468G:p.P823R,ENSG00000130518:ENST00000600359:exon3:c.C2330G:p.P777R NA NA 19p13.11 NA NA NA NA rs12608777 0.14 0.14 0.138 0.151957 0.1292 0.3036 0.1196 0.0257 0.2127 0.12 0.29 0.1 0.03 0.1594 0.29 0.29 T 0.994 D 0.88 P 0.531 N 1.000 P 0.55 N 3.96 T -0.923 T 0.000 T 0.152 1.009 9.122 -1.29 0.016 -0.023 3.237 1.0092 NA 0.38 0.136956 0.040399 NA 0.094 NA 8.4077774 819 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 819 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 819 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 819 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 819 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 819 11 65685225 65685225 T C exonic C11orf68 NA nonsynonymous SNV C11orf68:NM_001135635:exon2:c.A587G:p.Q196R,C11orf68:NM_031450:exon2:c.A584G:p.Q195R exonic ENSG00000175573 NA nonsynonymous SNV ENSG00000175573:ENST00000530188:exon1:c.A461G:p.Q154R,ENSG00000175573:ENST00000438576:exon2:c.A587G:p.Q196R,ENSG00000175573:ENST00000449692:exon2:c.A584G:p.Q195R Score=561;Name=lod=253 NA 11q13.1 NA NA Name=16 NA rs7947504 0.91 0.91 0.881 0.897764 0.9821 1 0.951 0.6589 0.9908 0.99 1 0.96 0.66 0.9611 1 0.95 T 0.0 B 0.001 B 0.026 N 1.000 P 0.46 N 1.02 T -0.889 T 0.000 T 0.003 -0.816 0.634 -6.16 -1.672 -0.625 15.711 -0.815977 NA 0.49 0.984986 0.692413 NA 0.855 NA 8.4051474 819 14 96781912 96781912 T C exonic ATG2B NA nonsynonymous SNV ATG2B:NM_018036:exon22:c.A3370G:p.N1124D exonic ENSG00000066739 NA nonsynonymous SNV ENSG00000066739:ENST00000359933:exon22:c.A3370G:p.N1124D Score=389;Name=lod=51 NA 14q32.2 NA NA NA NA rs9323945 0.91 0.91 0.93 0.90655 0.9881 0.7629 0.9323 0.9985 0.8282 0.97 0.77 0.93 0.98 0.9485 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.995 N 3.03 T -0.958 T 0.000 T 0.004 0.008 4.057 5.19 1.207 3.826 13.962 0.00837 NA 1 0.99168 0.995305 NA 0.949 NA 8.4050534 820 14 92909073 92909073 T C exonic SLC24A4 NA synonymous SNV SLC24A4:NM_153646:exon6:c.T495C:p.H165H,SLC24A4:NM_153648:exon6:c.T303C:p.H101H,SLC24A4:NM_153647:exon7:c.T495C:p.H165H exonic ENSG00000140090 NA synonymous SNV ENSG00000140090:ENST00000554461:exon5:c.T168C:p.H56H,ENSG00000140090:ENST00000298877:exon6:c.T444C:p.H148H,ENSG00000140090:ENST00000351924:exon6:c.T444C:p.H148H,ENSG00000140090:ENST00000393265:exon6:c.T303C:p.H101H,ENSG00000140090:ENST00000532405:exon6:c.T495C:p.H165H,ENSG00000140090:ENST00000531433:exon7:c.T495C:p.H165H NA NA 14q32.12 Score=840;Name=V$BRN2_01 NA NA NA rs941650 0.85 0.85 0.843 0.857029 0.7425 0.9871 0.8184 0.8691 0.8517 0.75 0.99 0.81 0.88 0.7895 0.99 . . . . . . . . 0.000 P . . . . -1.015 T 0.000 T . 0.361 5.961 -4.38 -1.358 -1.951 16.082 0.361213 NA NA 0.732674 0.857694 NA 0.79 NA 8.4019926 820 12 122396395 122396395 C T exonic WDR66 NA nonsynonymous SNV WDR66:NM_001178003:exon12:c.C1948T:p.L650F,WDR66:NM_144668:exon12:c.C1948T:p.L650F exonic ENSG00000158023 NA nonsynonymous SNV ENSG00000158023:ENST00000288912:exon12:c.C1948T:p.L650F,ENSG00000158023:ENST00000397454:exon12:c.C1948T:p.L650F NA NA 12q24.31 NA NA NA NA rs17852561 0.3 0.3 0.265 0.277955 0.3111 0.4821 0.3602 0.0159 0.3292 0.32 0.5 0.34 0.03 0.3184 0.5 0.28 T 0.027 B 0.009 B 0.386 N 1.000 P 1.905 M 3.45 T -0.951 T 0.000 T 0.026 1.396 10.6 2.94 0.588 0.530 4.233 1.395987 1.395987 0.69 0.302045 0.056413 NA 0.232 NA 8.4017884 820 19 4442999 4442999 T G exonic CHAF1A NA nonsynonymous SNV CHAF1A:NM_005483:exon15:c.T2848G:p.S950A exonic ENSG00000167670 NA nonsynonymous SNV ENSG00000167670:ENST00000301280:exon15:c.T2848G:p.S950A NA NA 19p13.3 NA NA NA NA rs243383 0.98 0.98 0.973 0.969848 0.9722 0.9494 0.9928 0.9818 0.956 0.98 0.95 0.99 0.99 0.9809 0.99 0 D 0.0 B 0.0 B . . 1.000 P -0.77 N 2.23 T -0.962 T 0.000 T 0.064 -1.285 0.041 -8.44 -2.221 -1.353 2.77 -1.284751 NA 1 0.981033 0.986585 NA 0.986 NA 8.3992004 820 20 18143117 18143117 T G exonic CSRP2BP NA nonsynonymous SNV CSRP2BP:NM_020536:exon6:c.T1199G:p.V400G exonic ENSG00000149474 NA nonsynonymous SNV ENSG00000149474:ENST00000489634:exon5:c.T815G:p.V272G,ENSG00000149474:ENST00000435364:exon6:c.T1199G:p.V400G,ENSG00000149474:ENST00000278816:exon7:c.T1199G:p.V400G,ENSG00000149474:ENST00000377681:exon7:c.T1196G:p.V399G Score=389;Name=lod=51 NA 20p11.23 NA NA NA NA rs1205193 0.99 0.99 0.988 0.990615 0.9771 1 0.9755 0.9985 0.9949 0.98 1 0.99 0.99 0.9835 1 0.55 T 0.0 B 0.0 B 0.000 N 0.802 P 0.345 N 2.53 T -0.957 T 0.000 T 0.102 0.559 7.02 6.03 1.569 3.961 15.238 0.558603 NA 0.54 0.973605 0.994326 NA 0.957 NA 8.3991284 820 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 820 1 186946912 186946912 G A exonic PLA2G4A NA nonsynonymous SNV PLA2G4A:NM_024420:exon16:c.G1952A:p.R651K exonic ENSG00000116711 NA nonsynonymous SNV ENSG00000116711:ENST00000442353:exon14:c.G1772A:p.R591K,ENSG00000116711:ENST00000367466:exon16:c.G1952A:p.R651K Score=596;Name=lod=353 NA 1q31.1 NA NA NA NA rs2307198 0.98 0.98 0.981 0.988219 0.9742 0.998 0.9841 0.9985 0.9816 0.97 1 0.98 1 0.9804 1 1 T 0.0 B 0.0 B 0.000 N 0.970 P -2.365 N 2.94 T -0.965 T 0.000 T 0.182 1.4 10.62 5.98 1.089 7.052 11.512 1.400204 1.400204 1 0.980581 0.995461 NA 0.986 NA 8.3981524 820 19 9057896 9057896 G C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.C29550G:p.D9850E exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C29550G:p.D9850E NA NA 19p13.2 NA NA NA NA rs12984471 0.21 0.21 0.212 0.208866 0.3121 0.0258 0.219 0.2352 0.2485 0.32 0.02 0.23 0.25 0.2864 0.34 0 D 0.0 B 0.0 B . . . . -0.55 N 2.12 T -0.924 T 0.000 T 0.024 0.324 5.757 -1.59 -0.660 -4.110 4.200 0.324052 NA 0.45 0.337193 0.230788 NA 0.254 NA 8.3976404 820 14 75537381 75537381 C T exonic ZC2HC1C NA synonymous SNV ZC2HC1C:NM_001042430:exon2:c.C105T:p.Y35Y,ZC2HC1C:NM_024643:exon2:c.C105T:p.Y35Y exonic ENSG00000119703 NA synonymous SNV ENSG00000119703:ENST00000238686:exon2:c.C105T:p.Y35Y,ENSG00000119703:ENST00000439583:exon2:c.C105T:p.Y35Y,ENSG00000119703:ENST00000524913:exon2:c.C105T:p.Y35Y,ENSG00000119703:ENST00000525046:exon2:c.C105T:p.Y35Y,ENSG00000119703:ENST00000526130:exon2:c.C105T:p.Y35Y,ENSG00000119703:ENST00000534151:exon2:c.C105T:p.Y35Y,ENSG00000119703:ENST00000554763:exon2:c.C105T:p.Y35Y Score=346;Name=lod=34 NA 14q24.3 Score=936;Name=V$HOXA3_01 Name=TAF1,Pol2-4H8,Egr-1,GATA3_(SC-268) Name=34 NA rs11546525 0.38 0.38 0.358 0.349241 0.4513 0.6468 0.4236 0.0257 0.3221 0.45 0.6 0.39 0.04 0.402 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1197 NA NA 0.415764 0.095876 ID=COSM1371159;OCCURENCE=2(large_intestine) 0.355 NA 8.3976026 820 2 209190330 209190330 T C exonic PIKFYVE NA nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.T2795C:p.L932S exonic ENSG00000115020 NA nonsynonymous SNV ENSG00000115020:ENST00000452564:exon19:c.T2627C:p.L876S,ENSG00000115020:ENST00000264380:exon20:c.T2795C:p.L932S Score=284;Name=lod=19 NA 2q34 NA NA NA NA rs2363468 0.94 0.94 0.924 0.911741 0.995 0.9405 0.9769 0.789 0.9162 1 0.94 0.97 0.81 0.9596 1 0.78 T 0.0 B 0.0 B 0.178 N 0.000 P -0.805 N 1.89 T -0.956 T 0.000 T 0.031 -0.884 0.471 5.19 1.598 1.176 6.811 -0.884422 NA 0.8 0.981628 0.806854 NA 0.913 NA 8.3971054 820 2 209191082 209191082 C A exonic PIKFYVE NA nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.C3547A:p.Q1183K exonic ENSG00000115020 NA nonsynonymous SNV ENSG00000115020:ENST00000452564:exon19:c.C3379A:p.Q1127K,ENSG00000115020:ENST00000264380:exon20:c.C3547A:p.Q1183K NA NA 2q34 Score=894;Name=V$NFY_C NA NA NA rs1529979 0.94 0.94 0.924 0.911542 0.995 0.9395 0.9769 0.789 0.9162 1 0.94 0.97 0.81 0.9596 1 . . 0.0 B 0.0 B 0.000 N 0.057 P -1.7 N 1.89 T -0.962 T 0.000 T 0.03 -1.003 0.256 4.65 1.039 2.575 13.087 -1.003359 NA 1 0.981628 0.806627 NA 0.913 NA 8.3971054 820 8 145979138 145979138 C T exonic ZNF251 NA synonymous SNV ZNF251:NM_138367:exon4:c.G207A:p.Q69Q exonic ENSG00000198169 NA synonymous SNV ENSG00000198169:ENST00000292562:exon4:c.G207A:p.Q69Q Score=366;Name=lod=41 NA 8q24.3 NA NA NA NA rs35571769 0.04 0.04 0.024 0.0305511 0.0825 0.001 0.0418 0.003 0.0368 0.08 0.0017 0.04 0.002 0.1139 0.08 . . . . . . . . 1.000 D . . . . -1.127 T 0.014 T . -0.035 3.833 1.63 0.515 -0.045 6.436 -0.035391 NA NA 0.073177 0.011953 NA 0.029 NA 8.3970896 820 15 102192548 102192548 A C exonic TM2D3 NA nonsynonymous SNV TM2D3:NM_025141:exon1:c.T17G:p.L6R,TM2D3:NM_078474:exon1:c.T17G:p.L6R exonic ENSG00000184277 NA nonsynonymous SNV ENSG00000184277:ENST00000333202:exon1:c.T17G:p.L6R,ENSG00000184277:ENST00000347970:exon1:c.T17G:p.L6R,ENSG00000184277:ENST00000428002:exon1:c.T17G:p.L6R,ENSG00000184277:ENST00000559107:exon1:c.T17G:p.L6R,ENSG00000184277:ENST00000560013:exon1:c.T17G:p.L6R NA NA 15q26.3 Score=798;Name=V$PAX5_02 Name=TBP,TR4,ELK4,PAX5-N19,Pol2(b),PU.1,YY1,STAT2,ZNF263,GR,SMC3_(ab9263),YY1_(C-20),Max,IRF1,Nrf1,Rad21,c-Myc,Oct-2,SIX5,E2F4,Sin3Ak-20,PAX5-C20,NRSF,Mxi1_(bHLH),NFKB,HMGN3,TAF1,CTCF_(SC-5916),Pol2-4H8,GABP,HEY1,ELF1_(SC-631),E2F1,Pol2(phosphoS2),Pol2,CHD2_(N-1250),HA-E2F1,TAF7_(SQ-8),HDAC2_(SC-6296),E2F6_(H-50),CTCF,POU2F2,E2F6 Name=148 NA rs2939587 0.99 0.99 0.981 0.993411 0.9771 1 0.9957 0.9992 0.9939 0.97 1 0.99 1 0.9798 1 0.55 T 0.0 B 0.0 B 0.047 N 1.000 P 0 N . . -1.015 T 0.000 T 0.047 1.462 10.83 -3.54 -0.736 -0.897 3.136 1.462359 1.462359 0.16 0.979537 0.997016 NA 0.746 NA 8.3968964 820 16 1797050 1797050 C T exonic MAPK8IP3 NA synonymous SNV MAPK8IP3:NM_001040439:exon6:c.C765T:p.S255S,MAPK8IP3:NM_015133:exon6:c.C765T:p.S255S exonic ENSG00000138834 NA synonymous SNV ENSG00000138834:ENST00000250894:exon6:c.C765T:p.S255S,ENSG00000138834:ENST00000356010:exon6:c.C765T:p.S255S NA NA 16p13.3 Score=903;Name=V$AP1FJ_Q2 Name=Pol2,AP-2gamma,AP-2alpha Name=26 NA rs2294613 0.09 0.09 0.089 0.0854633 0.0905 0.0843 0.0476 0.0893 0.1033 0.09 0.08 0.06 0.11 0.0863 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 0.496106 NA NA 0.093772 0.095338 NA 0.072 NA 8.3960946 820 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 820 19 45162038 45162038 A G exonic PVR NA nonsynonymous SNV PVR:NM_001135770:exon6:c.A1020G:p.I340M,PVR:NM_006505:exon6:c.A1020G:p.I340M exonic ENSG00000073008 NA nonsynonymous SNV ENSG00000073008:ENST00000406449:exon6:c.A1020G:p.I340M,ENSG00000073008:ENST00000425690:exon6:c.A1020G:p.I340M NA NA 19q13.31 NA NA NA NA rs203710 0.99 0.99 0.99 0.992013 0.9761 1 0.9841 0.9977 0.998 0.98 1 0.98 1 0.9862 1 0.13 T 0.0 B 0.001 B 0.004 N 1.000 P -0.41 N -2.26 D -0.911 T 0.000 T 0.013 -1.942 0.007 -3.4 -1.104 -2.559 4.713 -1.94218 NA 0.97 0.975349 0.995915 NA 0.986 NA 8.3956844 820 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 821 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 821 11 112065434 112065434 T C exonic BCO2 NA nonsynonymous SNV BCO2:NM_001256400:exon4:c.T377C:p.L126P,BCO2:NM_001037290:exon5:c.T590C:p.L197P,BCO2:NM_001256397:exon5:c.T590C:p.L197P,BCO2:NM_031938:exon5:c.T692C:p.L231P exonic ENSG00000197580 NA nonsynonymous SNV ENSG00000197580:ENST00000532593:exon4:c.T377C:p.L126P,ENSG00000197580:ENST00000357685:exon5:c.T692C:p.L231P,ENSG00000197580:ENST00000393032:exon5:c.T590C:p.L197P,ENSG00000197580:ENST00000438022:exon5:c.T590C:p.L197P,ENSG00000197580:ENST00000526088:exon5:c.T590C:p.L197P,ENSG00000197580:ENST00000531169:exon5:c.T590C:p.L197P Score=638;Name=lod=524 NA 11q23.1 NA NA NA NA rs10891338 0.98 0.98 0.974 0.970447 0.9801 1 0.9899 0.947 0.9479 0.98 1 0.99 0.95 0.9763 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.85 N -3.49 D -0.923 T 0.000 T 0.197 -0.199 3.036 4.2 0.765 2.596 10.406 -0.198608 NA 1 0.983011 0.952522 NA 0.942 NA 8.3939224 821 17 48265495 48265495 T C exonic COL1A1 NA nonsynonymous SNV COL1A1:NM_000088:exon44:c.A3223G:p.T1075A exonic ENSG00000108821 NA nonsynonymous SNV ENSG00000108821:ENST00000225964:exon44:c.A3223G:p.T1075A Score=561;Name=lod=253 NA 17q21.33 NA NA NA NA rs1800215 0.98 0.98 0.965 0.978834 0.9751 1 0.9942 0.944 0.9969 0.97 1 0.99 0.94 0.9848 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.31 N -3.21 D -0.936 T 0.000 T 0.2 -1.115 0.13 5.13 1.179 0.571 11.680 -1.11516 NA 1 0.983434 0.946478 NA 0.92 NA 8.3899994 821 4 88732918 88732918 A T exonic IBSP NA nonsynonymous SNV IBSP:NM_004967:exon7:c.A810T:p.E270D exonic ENSG00000029559 NA nonsynonymous SNV ENSG00000029559:ENST00000226284:exon7:c.A810T:p.E270D Score=265;Name=lod=16 NA 4q22.1 NA NA NA NA rs1054629 0.18 0.18 0.157 0.187899 0.329 0.1062 0.2752 0.0083 0.3078 0.32 0.1 0.27 0.01 0.2947 0.32 0.74 T 0.189 B 0.207 B 0.010 N 0.998 P 2.38 M 2.52 T -0.949 T 0.000 T 0.076 3.373 17.37 0.073 -0.197 -0.256 1.913 3.372643 3.372643 0.23 0.32093 0.060145 NA 0.109 NA 8.3887034 821 2 101656726 101656726 T C exonic TBC1D8 NA nonsynonymous SNV TBC1D8:NM_001102426:exon6:c.A949G:p.T317A exonic ENSG00000204634 NA nonsynonymous SNV ENSG00000204634:ENST00000376840:exon6:c.A949G:p.T317A,ENSG00000204634:ENST00000409318:exon6:c.A994G:p.T332A NA NA 2q11.2 NA NA NA NA rs2289953 0.51 0.51 0.48 0.485623 0.6819 0.3075 0.5648 0.3502 0.5941 0.68 0.36 0.64 0.34 0.5997 0.68 0.56 T 0.0 B 0.0 B 0.912 N 1.000 P -1.525 N -2.12 D -0.907 T 0.000 T 0.082 0.29 5.573 4.0 0.360 1.185 11.385 0.290495 NA 0.6 0.663597 0.429446 NA 0.594 NA 8.3881364 821 19 8436164 8436164 C T exonic ANGPTL4 NA nonsynonymous SNV ANGPTL4:NM_001039667:exon5:c.C683T:p.T228M,ANGPTL4:NM_139314:exon6:c.C797T:p.T266M exonic ENSG00000167772 NA nonsynonymous SNV ENSG00000167772:ENST00000393962:exon5:c.C683T:p.T228M,ENSG00000167772:ENST00000301455:exon6:c.C797T:p.T266M,ENSG00000167772:ENST00000593998:exon6:c.C797T:p.T266M,ENSG00000167772:ENST00000541807:exon7:c.C296T:p.T99M NA NA 19p13.2 NA Name=HMGN3,Pol2,GR,CCNT2 NA NA rs1044250 0.25 0.25 0.225 0.239617 0.331 0.0595 0.3285 0.2564 0.2454 0.34 0.08 0.32 0.28 0.3042 0.34 0.08 T 0.129 B 0.056 B 0.123 N 1.000 P 3.305 M 1.39 T -0.975 T 0.000 T 0.097 0.532 6.884 -1.27 -0.515 0.761 6.588 0.532489 NA 0.34 0.310116 0.25488 NA 0.232 NA 8.3880174 821 5 35033605 35033605 G A exonic AGXT2 NA nonsynonymous SNV AGXT2:NM_031900:exon6:c.C635T:p.T212I exonic ENSG00000113492 NA nonsynonymous SNV ENSG00000113492:ENST00000231420:exon6:c.C635T:p.T212I,ENSG00000113492:ENST00000510428:exon6:c.C635T:p.T212I NA NA 5p13.2 NA NA NA NA rs180749 0.89 0.89 0.892 0.875 0.998 0.7788 0.9323 0.8018 0.9059 1 0.79 0.94 0.79 0.9491 1 0.43 T 0.099 B 0.06 B 0.001 N 1.000 P 1.385 L -2.04 D -0.934 T 0.000 T 0.109 1.26 10.11 -5.24 -1.019 -0.967 3.214 1.260029 1.260029 0.38 0.998721 0.831593 NA 0.884 NA 8.3875124 821 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 822 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 822 9 127618776 127618776 A G exonic WDR38 NA nonsynonymous SNV WDR38:NM_001276376:exon5:c.A368G:p.H123R,WDR38:NM_001045476:exon6:c.A515G:p.H172R,WDR38:NM_001276374:exon6:c.A515G:p.H172R,WDR38:NM_001276375:exon6:c.A482G:p.H161R exonic ENSG00000136918 NA nonsynonymous SNV ENSG00000136918:ENST00000373574:exon6:c.A515G:p.H172R NA NA 9q33.3 Score=775;Name=V$HEN1_01 Name=Pol2(phosphoS2),Pol2 Name=15 NA rs2274970 0.91 0.91 0.906 0.900958 0.995 0.7688 0.9683 0.882 0.9182 0.99 0.75 0.97 0.9 0.9586 1 0.95 T 0.0 B 0.0 B 0.033 N 1.000 P -2.04 N 0.74 T -0.981 T 0.000 T 0.031 -1.362 0.027 2.64 0.577 0.532 7.534 -1.362075 NA 1 0.99569 0.883383 NA 0.949 NA 8.3840434 822 1 171514731 171514731 C G exonic PRRC2C NA nonsynonymous SNV PRRC2C:NM_015172:exon17:c.C4871G:p.S1624C exonic ENSG00000117523 NA nonsynonymous SNV ENSG00000117523:ENST00000338920:exon17:c.C4871G:p.S1624C,ENSG00000117523:ENST00000367742:exon17:c.C4877G:p.S1626C,ENSG00000117523:ENST00000392078:exon17:c.C4877G:p.S1626C,ENSG00000117523:ENST00000426496:exon17:c.C4871G:p.S1624C NA NA 1q24.3 NA NA NA NA rs235468 0.81 0.81 0.814 0.804712 0.8161 0.8968 0.7305 0.7277 0.8548 0.83 0.9 0.75 0.73 0.8232 0.9 0.13 T 0.547 P 0.416 B 0.839 N 1.000 P 0.345 N 4.48 T -0.828 T 0.004 T 0.219 1.165 9.741 3.27 1.156 1.489 11.420 1.164748 NA 0 0.811047 0.757376 NA 0.826 NA 8.3829864 822 1 167097739 167097739 C A exonic DUSP27 NA nonsynonymous SNV DUSP27:NM_001080426:exon5:c.C3371A:p.T1124N exonic ENSG00000198842 NA nonsynonymous SNV ENSG00000198842:ENST00000443333:exon5:c.C3371A:p.T1124N,ENSG00000198842:ENST00000271385:exon6:c.C3371A:p.T1124N,ENSG00000198842:ENST00000361200:exon6:c.C3371A:p.T1124N NA NA 1q24.1 NA NA NA NA rs2281959 0.42 0.42 0.406 0.382188 0.3141 0.7431 0.2867 0.2776 0.2894 0.29 0.76 0.32 0.29 0.3279 0.76 0 D 0.001 B 0.002 B 0.062 N 1.000 P 1.95 M 3.88 T -0.988 T 0.005 T 0.021 0.231 5.249 0.916 0.198 0.036 4.673 0.23134 NA 0 0.310233 0.28325 NA 0.377 NA 8.3811004 822 11 58125620 58125620 T C exonic OR5B17 NA nonsynonymous SNV OR5B17:NM_001005489:exon1:c.A923G:p.Y308C exonic ENSG00000197786 NA nonsynonymous SNV ENSG00000197786:ENST00000357377:exon1:c.A923G:p.Y308C NA NA 11q12.1 NA NA NA NA rs4127353 0.71 0.71 0.722 0.730831 0.6312 0.8562 0.7334 0.7307 0.7025 0.63 0.83 0.75 0.67 0.687 0.83 0.22 T 0.0 B 0.001 B . . 1.000 P -0.205 N 7.83 T -0.975 T 0.000 T 0.032 0.213 5.148 -5.15 -2.914 -2.791 0.252 0.212877 NA 0.19 0.634342 0.736029 ID=COSM1179749;OCCURENCE=1(prostate) 0.71 NA 8.3807914 822 12 10958658 10958658 T C exonic TAS2R8 NA nonsynonymous SNV TAS2R8:NM_023918:exon1:c.A922G:p.M308V exonic ENSG00000121314 NA nonsynonymous SNV ENSG00000121314:ENST00000240615:exon1:c.A922G:p.M308V NA NA 12p13.2 NA Name=MafK_(ab50322) NA NA rs2537817 0.9 0.9 0.884 0.873403 0.997 1 0.951 0.5635 0.9796 1 1 0.94 0.6 0.9617 1 1 T 0.0 B 0.0 B 0.367 N 1.000 P 0.69 N 5.85 T -0.922 T 0.000 T 0.026 -1.792 0.01 -9.75 -2.329 -1.137 3.455 -1.791849 NA 1 0.9945 0.636239 NA 0.833 NA 8.3801334 822 12 99007623 99007623 C T exonic IKBIP NA nonsynonymous SNV IKBIP:NM_201612:exon3:c.G793A:p.G265S exonic ENSG00000166130 NA nonsynonymous SNV ENSG00000166130:ENST00000420861:exon2:c.G475A:p.G159S,ENSG00000166130:ENST00000342502:exon3:c.G793A:p.G265S Score=460;Name=lod=99 NA 12q23.1 NA NA NA NA rs1048906 0.36 0.36 0.369 0.390575 0.2982 0.3492 0.3329 0.5295 0.3814 0.3 0.33 0.33 0.49 0.3415 0.5 1 T 0.0 B 0.001 B . . 0.000 P -0.345 N 1.3 T -0.909 T 0.000 T 0.015 -0.489 1.75 1.86 0.061 1.688 9.883 -0.489406 NA 1 0.31391 0.499319 NA 0.377 NA 8.3797234 822 22 36598049 36598049 C G exonic APOL4 NA unknown UNKNOWN exonic ENSG00000100336 NA nonsynonymous SNV ENSG00000100336:ENST00000352371:exon2:c.G34C:p.V12L,ENSG00000100336:ENST00000404685:exon2:c.G34C:p.V12L NA NA 22q12.3 NA Name=STAT1,E2F6_(H-50),STAT2 Name=53 NA rs80587 0.6 0.6 0.561 0.621006 0.4125 0.9028 0.4755 0.6891 0.5562 0.41 0.89 0.5 0.65 0.481 0.89 1 T 0.0 B 0.0 B 0.000 N 1.000 P . . 3.88 T -0.967 T 0.000 T 0.016 -1.471 0.018 0.181 -0.292 -1.861 3.603 -1.470993 NA 1 0.394302 0.634816 NA 0.601 NA 8.3788647 822 15 52689631 52689631 T G exonic MYO5A NA nonsynonymous SNV MYO5A:NM_000259:exon10:c.A1086C:p.E362D,MYO5A:NM_001142495:exon10:c.A1086C:p.E362D exonic ENSG00000197535 NA nonsynonymous SNV ENSG00000197535:ENST00000356338:exon10:c.A1086C:p.E362D,ENSG00000197535:ENST00000358212:exon10:c.A1086C:p.E362D,ENSG00000197535:ENST00000399231:exon10:c.A1086C:p.E362D,ENSG00000197535:ENST00000399233:exon10:c.A1086C:p.E362D,ENSG00000197535:ENST00000553916:exon10:c.A1086C:p.E362D Score=538;Name=lod=204 NA 15q21.2 NA NA NA NA rs1724577 0.92 0.92 0.9 0.886781 0.996 0.9802 0.9769 0.6657 0.9131 1 0.97 0.97 0.68 0.9629 1 0.81 T 0.0 B 0.002 B 0.000 N 1.000 P 0.65 N -2.32 D -0.933 T 0.000 T 0.077 0.244 5.319 -4.65 -1.087 -0.114 1.965 0.244194 NA 0.61 0.995801 0.728998 NA 0.906 NA 8.3786324 822 22 45723807 45723807 G C exonic FAM118A NA nonsynonymous SNV FAM118A:NM_017911:exon4:c.G385C:p.V129L,FAM118A:NM_001104595:exon5:c.G385C:p.V129L exonic ENSG00000100376 NA nonsynonymous SNV ENSG00000100376:ENST00000405673:exon4:c.G385C:p.V129L,ENSG00000100376:ENST00000427777:exon4:c.G385C:p.V129L,ENSG00000100376:ENST00000441876:exon4:c.G385C:p.V129L,ENSG00000100376:ENST00000216214:exon5:c.G385C:p.V129L NA NA 22q13.31 Score=818;Name=V$COMP1_01 NA NA NA rs11556482 0.5 0.5 0.511 0.53734 0.2932 0.5258 0.402 0.8548 0.4673 0.29 0.52 0.42 0.84 0.3773 0.84 0.31 T 0.0 B 0.0 B 0.931 N 1.000 P 0 N 1.03 T -0.976 T 0.000 T 0.133 -0.726 0.889 -0.035 0.124 1.400 13.085 -0.726183 NA 0.73 0.284302 0.754653 NA 0.399 NA 8.3785314 822 18 49867224 49867224 T C exonic DCC NA nonsynonymous SNV DCC:NM_005215:exon1:c.T67C:p.F23L exonic ENSG00000187323 NA nonsynonymous SNV ENSG00000187323:ENST00000442544:exon1:c.T67C:p.F23L Score=709;Name=lod=1011 NA 18q21.2 NA Name=SUZ12 NA NA rs9951523 0.99 0.99 0.988 0.995807 0.9841 0.998 0.9971 0.9992 1 0.98 1 1 1 0.9862 1 0.65 T 0.0 B 0.0 B 0.295 N 0.000 P 0 N 0.84 T -0.966 T 0.000 T 0.054 1.057 9.318 4.83 0.710 1.107 10.143 1.057395 NA 1 0.984651 0.997957 NA 0.993 NA 8.3783824 822 10 46965018 46965018 C G exonic SYT15 NA nonsynonymous SNV SYT15:NM_031912:exon6:c.G927C:p.E309D,SYT15:NM_181519:exon6:c.G927C:p.E309D exonic ENSG00000204176 NA nonsynonymous SNV ENSG00000204176:ENST00000374328:exon3:c.G297C:p.E99D,ENSG00000204176:ENST00000374323:exon5:c.G1086C:p.E362D,ENSG00000204176:ENST00000374321:exon6:c.G927C:p.E309D,ENSG00000204176:ENST00000374325:exon6:c.G927C:p.E309D,ENSG00000204176:ENST00000503753:exon6:c.G927C:p.E309D NA NA 10q11.22 NA NA NA NA rs3127785 0.45 0.45 0.411 NA NA NA NA NA NA 0.5 0.38 0.46 0.46 0.4793 0.5 1 T 0.001 B 0.015 B 0.070 N 1.000 P -1.04 N 0.13 T -1.062 T 0.000 T 0.066 -0.506 1.682 -10.1 -2.923 -3.775 8.444 -0.506339 NA 0.54 0.475664 0.450187 ID=COSM146930;OCCURENCE=1(stomach) 0.449 NA 8.3783694 822 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 822 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 822 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 822 1 108313258 108313258 C T exonic VAV3 NA synonymous SNV VAV3:NM_006113:exon6:c.G648A:p.K216K exonic ENSG00000134215 NA synonymous SNV ENSG00000134215:ENST00000370056:exon6:c.G648A:p.K216K,ENSG00000134215:ENST00000371846:exon6:c.G453A:p.K151K,ENSG00000134215:ENST00000527011:exon6:c.G648A:p.K216K Score=500;Name=lod=144 NA 1p13.3 NA NA NA NA rs6583048 0.71 0.71 0.714 0.670927 0.7753 0.6776 0.6196 0.6876 0.5706 0.78 0.66 0.66 0.68 0.7279 0.79 . . . . . . . . 0.000 P . . . . -0.971 T 0.092 T . 1.422 10.69 5.56 0.956 1.034 7.983 1.422159 1.422159 NA 0.786013 0.708314 NA 0.703 NA 8.3774536 822 16 12060163 12060163 A G exonic TNFRSF17 NA nonsynonymous SNV TNFRSF17:NM_001192:exon2:c.A242G:p.N81S exonic ENSG00000048462 NA nonsynonymous SNV ENSG00000048462:ENST00000053243:exon2:c.A242G:p.N81S NA NA 16p13.13 NA Name=NRSF,PU.1,TBP,Pol2,BCL11A,Pol2-4H8,MEF2A,IRF4_(M-17),NFKB Name=7 NA rs373496 0.96 0.96 0.945 0.961262 0.9891 1 0.9914 0.8858 0.9734 0.99 1 0.99 0.86 0.9792 1 1 T 0.0 B 0.001 B 1.000 N 0.999 P 0.425 N 2.97 T -0.975 T 0.000 T 0.069 -2.21 0.005 -3.14 -0.750 -1.103 7.176 -2.209588 NA 0.12 0.988256 0.899181 NA 0.971 NA 8.3767774 822 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 822 5 178358857 178358857 C T exonic ZFP2 NA synonymous SNV ZFP2:NM_030613:exon5:c.C543T:p.T181T exonic ENSG00000198939 NA synonymous SNV ENSG00000198939:ENST00000503510:exon4:c.C543T:p.T181T,ENSG00000198939:ENST00000520301:exon4:c.C543T:p.T181T,ENSG00000198939:ENST00000361362:exon5:c.C543T:p.T181T,ENSG00000198939:ENST00000523286:exon5:c.C543T:p.T181T Score=464;Name=lod=103 NA 5q35.3 NA Name=SETDB1,KAP1,ZNF274 Name=4 NA rs61744382 0.06 0.06 0.051 0.0423323 0.1103 NA 0.0648 0.0159 0.0358 0.11 NA 0.07 0.02 0.0756 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 -1.084985 NA NA 0.105257 0.029732 NA 0.036 NA 8.3755096 822 6 24291203 24291203 T C exonic DCDC2 NA nonsynonymous SNV DCDC2:NM_016356:exon5:c.A661G:p.S221G,DCDC2:NM_001195610:exon6:c.A661G:p.S221G exonic ENSG00000146038 NA nonsynonymous SNV ENSG00000146038:ENST00000378454:exon5:c.A661G:p.S221G Score=568;Name=lod=272 NA 6p22.3 NA NA NA NA rs2274305 0.55 0.55 0.476 0.516973 0.668 0.7827 0.6671 0.0537 0.6074 0.68 0.73 0.67 0.05 0.6393 0.73 0.61 T 0.0 B 0.0 B 0.005 N 0.000 P -0.09 N -3.26 D -0.923 T 0.293 T 0.015 1.731 11.75 1.8 0.136 1.221 9.402 1.731498 1.731498 0.63 0.650814 0.153881 NA 0.558 NA 8.3752194 822 15 86122779 86122779 T C exonic AKAP13 NA nonsynonymous SNV AKAP13:NM_006738:exon7:c.T1480C:p.W494R,AKAP13:NM_007200:exon7:c.T1480C:p.W494R exonic ENSG00000170776 NA nonsynonymous SNV ENSG00000170776:ENST00000361243:exon7:c.T1480C:p.W494R,ENSG00000170776:ENST00000394518:exon7:c.T1480C:p.W494R,ENSG00000170776:ENST00000559362:exon7:c.T1480C:p.W494R NA NA 15q25.3 NA Name=GR Name=2 NA rs2061822 0.61 0.61 0.604 0.596246 0.6511 0.5794 0.6499 0.5545 0.5757 0.64 0.58 0.66 0.54 0.6322 0.67 0.68 T 0.0 B 0.0 B . . 1.000 P 0 N 3.05 T -1.033 T 0.000 T 0.378 0.857 8.469 2.25 0.414 -0.087 4.568 0.857011 NA 0 0.674924 0.598547 NA 0.572 NA 8.3751094 822 15 72638892 72638892 T C exonic HEXA NA nonsynonymous SNV HEXA:NM_000520:exon11:c.A1306G:p.I436V exonic ENSG00000213614 NA nonsynonymous SNV ENSG00000213614:ENST00000429918:exon9:c.A787G:p.I263V,ENSG00000213614:ENST00000268097:exon11:c.A1306G:p.I436V,ENSG00000213614:ENST00000566304:exon11:c.A1339G:p.I447V,ENSG00000213614:ENST00000567159:exon11:c.A1306G:p.I436V NA NA 15q23 NA NA NA NA rs1800431 0.9 0.9 0.884 0.876398 0.996 0.999 0.9741 0.5507 0.998 1 1 0.97 0.58 0.9643 1 0.25 T 0.0 B 0.0 B 0.060 N 0.107 P 0.48 N -3.71 D -0.915 T 0.000 T 0.062 2.835 15.44 -7.77 -2.317 -0.202 9.886 2.834763 2.834763 0.16 0.998022 0.619827 NA 0.884 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079049.3;CLNDSDB=.;CLNDSDBID=. 8.3750114 823 1 171755071 171755071 A G exonic METTL13 NA synonymous SNV METTL13:NM_001007239:exon3:c.A498G:p.K166K,METTL13:NM_014955:exon3:c.A708G:p.K236K,METTL13:NM_015935:exon3:c.A966G:p.K322K exonic ENSG00000010165 NA synonymous SNV ENSG00000010165:ENST00000361735:exon3:c.A966G:p.K322K,ENSG00000010165:ENST00000362019:exon3:c.A708G:p.K236K,ENSG00000010165:ENST00000367737:exon3:c.A498G:p.K166K,ENSG00000010165:ENST00000458517:exon4:c.A963G:p.K321K Score=540;Name=lod=209 NA 1q24.3 Score=960;Name=V$CETS1P54_01 NA Name=10 NA rs17650204 0.05 0.05 0.04 0.0329473 0.1074 NA 0.0476 0.003 0.0204 0.11 NA 0.06 0.0041 0.0791 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 1.29602 1.29602 NA 0.105233 0.016341 NA 0.007 NA 8.3749336 823 3 195515594 195515594 C G exonic MUC4 NA nonsynonymous SNV MUC4:NM_018406:exon2:c.G2857C:p.E953Q exonic ENSG00000145113 NA nonsynonymous SNV ENSG00000145113:ENST00000462323:exon2:c.G2857C:p.E953Q,ENSG00000145113:ENST00000463781:exon2:c.G2857C:p.E953Q,ENSG00000145113:ENST00000466475:exon2:c.G2857C:p.E953Q,ENSG00000145113:ENST00000470451:exon2:c.G2857C:p.E953Q,ENSG00000145113:ENST00000475231:exon2:c.G2857C:p.E953Q,ENSG00000145113:ENST00000477086:exon2:c.G2857C:p.E953Q,ENSG00000145113:ENST00000477756:exon2:c.G2857C:p.E953Q,ENSG00000145113:ENST00000478156:exon2:c.G2857C:p.E953Q,ENSG00000145113:ENST00000479406:exon2:c.G2857C:p.E953Q,ENSG00000145113:ENST00000480843:exon2:c.G2857C:p.E953Q NA NA 3q29 NA NA NA NA rs13095016 0.75 0.75 0.763 0.720847 0.8519 0.8274 0.6758 0.6104 0.6575 0.85 0.8 0.68 0.61 0.776 0.85 0.62 T 0.967 D 0.492 P 0.001 N 1.000 P . . 1.63 T -0.856 T 0.000 T 0.031 0.551 6.981 -2.59 -0.511 -3.147 1.034 0.551119 NA 0.33 0.830514 0.655489 NA 0.725 NA 8.3749194 823 4 8583312 8583312 A C exonic GPR78 NA nonsynonymous SNV GPR78:NM_080819:exon1:c.A603C:p.R201S exonic ENSG00000155269 NA nonsynonymous SNV ENSG00000155269:ENST00000382487:exon1:c.A603C:p.R201S,ENSG00000155269:ENST00000514302:exon2:c.A603C:p.R201S Score=588;Name=lod=328 NA 4p16.1 NA Name=NRSF NA NA rs17844778 0.16 0.16 0.154 0.15016 0.3231 0.0248 0.2161 0.0295 0.2178 0.3 0.01 0.25 0.06 0.3262 0.31 0.46 T 0.0 B 0.001 B 0.004 N 1.000 P -1.04 N 1.02 T -0.936 T 0.000 T 0.046 -1.434 0.02 1.64 -0.378 0.463 9.265 -1.434012 NA 0.34 0.310161 0.071132 NA 0.13 NA 8.3738724 823 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=EBF,PAX5-C20,BATF,Oct-2,Pol2-4H8,EBF1_(C-8),NFKB,IRF4_(M-17),TAF1,POU2F2,TCF12,Pol2 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 823 4 186541301 186541301 A G exonic SORBS2 NA synonymous SNV SORBS2:NM_001145674:exon8:c.T2220C:p.R740R,SORBS2:NM_001145675:exon8:c.T684C:p.R228R,SORBS2:NM_001145670:exon14:c.T1140C:p.R380R,SORBS2:NM_001145672:exon14:c.T1191C:p.R397R,SORBS2:NM_021069:exon14:c.T2508C:p.R836R,SORBS2:NM_001145671:exon16:c.T1401C:p.R467R,SORBS2:NM_001145673:exon16:c.T1680C:p.R560R,SORBS2:NM_003603:exon16:c.T1206C:p.R402R,SORBS2:NM_001270771:exon17:c.T2808C:p.R936R exonic ENSG00000154556 NA synonymous SNV ENSG00000154556:ENST00000451974:exon6:c.T555C:p.R185R,ENSG00000154556:ENST00000418609:exon8:c.T2220C:p.R740R,ENSG00000154556:ENST00000284776:exon14:c.T2508C:p.R836R,ENSG00000154556:ENST00000448662:exon14:c.T1191C:p.R397R,ENSG00000154556:ENST00000449407:exon14:c.T1140C:p.R380R,ENSG00000154556:ENST00000319454:exon15:c.T1281C:p.R427R,ENSG00000154556:ENST00000431808:exon15:c.T2508C:p.R836R,ENSG00000154556:ENST00000319471:exon16:c.T1401C:p.R467R,ENSG00000154556:ENST00000393528:exon16:c.T1206C:p.R402R,ENSG00000154556:ENST00000437304:exon16:c.T1680C:p.R560R,ENSG00000154556:ENST00000355634:exon17:c.T2808C:p.R936R NA NA 4q35.1 NA NA NA NA rs61753946 0.04 0.04 0.041 0.0413339 0.1044 NA 0.049 0.0045 0.0634 0.1 NA 0.05 0.01 0.0797 0.11 . . . . . . . . 0.000 P . . . . . . . . . 0.991 9.046 -12.3 -4.750 -4.297 2.445 0.990773 NA NA 0.109535 0.022242 NA 0.051 NA 8.3730316 823 2 239165636 239165636 C T exonic PER2 NA synonymous SNV PER2:NM_022817:exon17:c.G1992A:p.A664A exonic ENSG00000132326 NA synonymous SNV ENSG00000132326:ENST00000254657:exon17:c.G1992A:p.A664A Score=585;Name=lod=318 NA 2q37.3 NA Name=CTCF Name=145 NA rs2304670 0.08 0.08 0.095 0.0934505 0.1024 0.0585 0.0605 0.1089 0.1227 0.11 0.06 0.06 0.09 0.1014 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 0.765645 NA NA 0.09 0.103268 NA 0.08 NA 8.3728666 823 17 1634104 1634104 C T exonic WDR81 NA synonymous SNV WDR81:NM_001163673:exon3:c.C222T:p.A74A,WDR81:NM_001163809:exon3:c.C3831T:p.A1277A,WDR81:NM_001163811:exon3:c.C150T:p.A50A,WDR81:NM_152348:exon4:c.C678T:p.A226A exonic ENSG00000167716 NA synonymous SNV ENSG00000167716:ENST00000409644:exon3:c.C3831T:p.A1277A,ENSG00000167716:ENST00000419248:exon3:c.C150T:p.A50A,ENSG00000167716:ENST00000437219:exon3:c.C222T:p.A74A,ENSG00000167716:ENST00000455636:exon3:c.C222T:p.A74A,ENSG00000167716:ENST00000309182:exon4:c.C678T:p.A226A NA Name=Calcium levels 17p13.3 NA NA Name=95 NA rs12150338 0.1 0.1 0.093 0.113219 0.0885 0.1419 0.1484 0.0643 0.1503 0.08 0.14 0.14 0.04 0.1168 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.674698 NA NA 0.089693 0.069709 ID=COSM1479281,COSM436109,COSM436108;OCCURENCE=1(breast) 0.065 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118854.2;CLNDSDB=.;CLNDSDBID=. 8.3716736 823 2 42510018 42510018 A G exonic EML4 NA nonsynonymous SNV EML4:NM_001145076:exon7:c.A673G:p.K225E,EML4:NM_019063:exon8:c.A847G:p.K283E exonic ENSG00000143924 NA nonsynonymous SNV ENSG00000143924:ENST00000402711:exon7:c.A673G:p.K225E,ENSG00000143924:ENST00000318522:exon8:c.A847G:p.K283E,ENSG00000143924:ENST00000401738:exon9:c.A880G:p.K294E Score=407;Name=lod=60 NA 2p21 NA NA NA NA rs6736913 0.99 0.99 0.994 0.996206 0.9881 1 0.9928 0.9992 0.999 0.99 1 0.99 1 0.9905 1 1 T 0.0 B 0.001 B 0.000 N 0.000 P -2.855 N 0.55 T -0.926 T 0.000 T 0.338 1.527 11.06 5.89 1.524 7.975 15.366 1.526615 1.526615 1 0.98314 0.996369 NA 1 NA 8.3715934 823 6 31598489 31598489 A G exonic PRRC2A NA synonymous SNV PRRC2A:NM_004638:exon15:c.A2376G:p.V792V,PRRC2A:NM_080686:exon15:c.A2376G:p.V792V exonic ENSG00000204469 NA synonymous SNV ENSG00000204469:ENST00000376007:exon15:c.A2376G:p.V792V,ENSG00000204469:ENST00000376033:exon15:c.A2376G:p.V792V Score=558;Name=lod=248 NA 6p21.33 NA Name=Pol2-4H8,Pol2(b) Name=4 NA rs3130626 0.13 0.13 NA 0.132388 0.1451 0.0704 0.0793 0.2103 0.1155 0.15 0.06 0.08 0.22 0.1503 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.686052 1.686052 NA NA NA NA 0.21 NA 8.3712666 823 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 823 6 112480041 112480041 A G exonic LAMA4 NA synonymous SNV LAMA4:NM_001105206:exon14:c.T1710C:p.S570S,LAMA4:NM_001105207:exon14:c.T1689C:p.S563S,LAMA4:NM_002290:exon14:c.T1689C:p.S563S exonic ENSG00000112769 NA synonymous SNV ENSG00000112769:ENST00000424408:exon13:c.T1689C:p.S563S,ENSG00000112769:ENST00000230538:exon14:c.T1710C:p.S570S,ENSG00000112769:ENST00000389463:exon14:c.T1689C:p.S563S,ENSG00000112769:ENST00000522006:exon14:c.T1689C:p.S563S Score=517;Name=lod=169 NA 6q21 Score=757;Name=V$E2F_01 NA NA NA rs3752577 0.1 0.1 0.095 0.091254 0.1034 0.13 0.1225 0.028 0.1022 0.11 0.15 0.1 0.04 0.1044 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.248678 1.248678 NA 0.08814 0.044258 NA 0.014 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000037339.1|RCV000126552.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.3707266 823 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=JunD,eGFP-JunD,FOSL2 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 823 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 823 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 823 6 96651740 96651740 A G exonic FUT9 NA nonsynonymous SNV FUT9:NM_006581:exon3:c.A709G:p.T237A exonic ENSG00000172461 NA nonsynonymous SNV ENSG00000172461:ENST00000302103:exon3:c.A709G:p.T237A Score=678;Name=lod=759 NA 6q16.1 Score=817;Name=V$CDPCR3_01 NA NA NA rs3811069 0.92 0.92 0.907 0.898363 0.998 0.995 0.9755 0.6543 0.9714 1 0.99 0.98 0.68 0.9688 1 0.6 T 0.0 B 0.007 B 0.000 N 0.897 P 0.49 N 1.81 T -0.963 T 0.010 T 0.039 1.233 10 1.82 0.990 1.797 4.283 1.233131 1.233131 0.03 0.997907 0.709714 NA 0.877 NA 8.3686264 823 1 227216775 227216775 C T exonic CDC42BPA NA nonsynonymous SNV CDC42BPA:NM_014826:exon28:c.G3667A:p.V1223I,CDC42BPA:NM_003607:exon29:c.G3910A:p.V1304I exonic ENSG00000143776 NA nonsynonymous SNV ENSG00000143776:ENST00000366764:exon28:c.G3826A:p.V1276I,ENSG00000143776:ENST00000366767:exon28:c.G3667A:p.V1223I,ENSG00000143776:ENST00000334218:exon29:c.G3910A:p.V1304I,ENSG00000143776:ENST00000366769:exon29:c.G3910A:p.V1304I,ENSG00000143776:ENST00000535525:exon29:c.G3850A:p.V1284I,ENSG00000143776:ENST00000366765:exon30:c.G3949A:p.V1317I,ENSG00000143776:ENST00000366766:exon30:c.G4015A:p.V1339I Score=562;Name=lod=257 NA 1q42.13 NA NA NA NA rs1929860 0.33 0.33 0.31 0.280152 0.332 0.4028 0.33 0.1884 0.1892 0.35 0.43 0.31 0.21 0.3177 0.43 0.99 T 0.001 B 0.004 B 0.000 N 1.000 P -0.755 N 3.6 T -0.927 T 0.000 T 0.163 -0.581 1.392 4.18 0.411 0.457 8.523 -0.580517 NA 0.83 0.315233 0.218339 NA 0.362 NA 8.3684004 823 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 823 11 60102396 60102396 A G exonic MS4A6E NA nonsynonymous SNV MS4A6E:NM_139249:exon1:c.A28G:p.T10A exonic ENSG00000166926 NA nonsynonymous SNV ENSG00000166926:ENST00000300182:exon1:c.A28G:p.T10A NA NA 11q12.2 NA NA NA NA rs2304934 0.3 0.3 0.241 0.258187 0.3111 0.255 0.4236 0.2269 0.1319 0.33 0.26 0.35 0.26 0.3184 0.35 0.49 T 0.106 B 0.009 B 0.808 N 1.000 P 1.975 M 2.86 T -0.911 T 0.000 T 0.018 1.928 12.4 -2.81 -0.804 -0.268 2.238 1.927607 1.927607 0 0.335814 0.259646 NA 0.254 NA 8.3680194 823 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 823 9 75775235 75775235 A G exonic ANXA1 NA synonymous SNV ANXA1:NM_000700:exon5:c.A327G:p.L109L exonic ENSG00000135046 NA synonymous SNV ENSG00000135046:ENST00000376911:exon4:c.A327G:p.L109L,ENSG00000135046:ENST00000257497:exon5:c.A327G:p.L109L,ENSG00000135046:ENST00000415424:exon6:c.A327G:p.L109L,ENSG00000135046:ENST00000456643:exon6:c.A360G:p.L120L Score=508;Name=lod=155 NA 9q21.13 NA Name=Pol2(b) Name=2 NA rs1050305 0.15 0.15 0.144 0.14996 0.0974 0.1458 0.0951 0.23 0.1391 0.1 0.15 0.11 0.23 0.1195 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.343582 1.343582 NA 0.08186 0.2197 NA 0.159 NA 8.3679066 823 11 60102384 60102384 A G exonic MS4A6E NA nonsynonymous SNV MS4A6E:NM_139249:exon1:c.A16G:p.I6V exonic ENSG00000166926 NA nonsynonymous SNV ENSG00000166926:ENST00000300182:exon1:c.A16G:p.I6V NA NA 11q12.2 NA NA NA NA rs2304935 0.3 0.3 0.246 0.258187 0.3121 0.254 0.4236 0.2269 0.1319 0.33 0.26 0.35 0.26 0.3185 0.35 1 T 0.0 B 0.0 B 0.261 N 1.000 P -0.955 N 3.15 T -0.931 T 0.000 T 0.008 -2.247 0.004 -3.92 -1.240 -0.662 8.785 -2.247485 NA 1 0.335814 0.259646 NA 0.254 NA 8.3669194 823 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$MYCMAX_03 NA Name=7 NA rs1130694 0.53 0.53 0.516 0.511581 0.4264 0.9107 0.3314 0.3729 0.5031 0.43 0.93 0.34 0.37 0.448 0.93 . . . . . . . . 0.000 P . . . . -1.040 T 0.000 T . 1.195 9.855 1.51 0.251 0.237 5.184 1.194604 NA NA 0.425581 0.363595 NA 0.449 NA 8.3666856 823 19 4510560 4510560 C T exonic PLIN4 NA nonsynonymous SNV PLIN4:NM_001080400:exon3:c.G3370A:p.A1124T exonic ENSG00000167676 NA nonsynonymous SNV ENSG00000167676:ENST00000301286:exon3:c.G3370A:p.A1124T NA NA 19p13.3 NA NA NA NA rs7251858 0.36 0.36 0.342 0.354633 0.3091 0.5645 0.304 0.27 0.3354 0.3 0.56 0.33 0.25 0.354 0.56 0.32 T 0.9 P 0.452 P 0.077 N 1.000 P 0.695 N 2.84 T -0.996 T 0.000 T 0.097 2.823 15.4 1.51 1.353 0.396 3.856 2.823443 2.823443 0.62 0.304636 0.28309 ID=COSM1481191,COSM439757;OCCURENCE=1(breast) 0.217 NA 8.3655974 823 6 116600774 116600774 C G exonic TSPYL1 NA nonsynonymous SNV TSPYL1:NM_003309:exon1:c.G220C:p.A74P exonic ENSG00000189241 NA nonsynonymous SNV ENSG00000189241:ENST00000368608:exon1:c.G220C:p.A74P NA NA 6q22.1 NA Name=YY1,ZNF263,YY1_(C-20),Pol2,E2F6_(H-50) Name=114 NA rs3749895 0.41 0.41 0.376 0.464257 0.3082 0.6448 0.3847 0.348 0.6524 0.3 0.65 0.36 0.32 0.3822 0.65 1 T 0.0 B 0.0 B . . 1.000 P -1.385 N 2.05 T -0.915 T 0.003 T 0.049 -0.372 2.25 1.42 0.050 0.032 4.915 -0.371714 NA 1 0.277672 0.324895 ID=COSM450374;OCCURENCE=1(breast) 0.428 NA 8.3652614 823 14 88946622 88946622 G A exonic PTPN21 NA nonsynonymous SNV PTPN21:NM_007039:exon13:c.C1153T:p.L385F exonic ENSG00000070778 NA nonsynonymous SNV ENSG00000070778:ENST00000328736:exon12:c.C1153T:p.L385F,ENSG00000070778:ENST00000556564:exon13:c.C1153T:p.L385F NA NA 14q31.3 Score=900;Name=V$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 824 16 66432423 66432423 T C exonic CDH5 NA nonsynonymous SNV CDH5:NM_001795:exon10:c.T1550C:p.I517T exonic ENSG00000179776 NA nonsynonymous SNV ENSG00000179776:ENST00000341529:exon10:c.T1550C:p.I517T Score=329;Name=lod=29 NA 16q21 NA NA NA NA rs1049970 0.71 0.71 0.563 0.744409 0.6869 0.8224 0.83 0.7474 0.6585 0.65 0.79 0.74 0.67 0.7208 0.79 0.1 T 0.0 B 0.001 B . . 0.000 P -0.97 N 0.26 T -0.995 T 0.000 T 0.015 0.804 8.228 3.99 0.699 1.933 7.395 0.80391 NA 0.21 0.560814 0.618355 ID=COSM1128913;OCCURENCE=1(prostate) 0.297 NA 8.3648194 824 6 155561760 155561760 T C exonic TIAM2 NA nonsynonymous SNV TIAM2:NM_001010927:exon2:c.T40C:p.S14P,TIAM2:NM_012454:exon15:c.T3265C:p.S1089P exonic ENSG00000146426 NA nonsynonymous SNV ENSG00000146426:ENST00000275246:exon2:c.T40C:p.S14P,ENSG00000146426:ENST00000462408:exon2:c.T79C:p.S27P,ENSG00000146426:ENST00000456877:exon10:c.T1201C:p.S401P,ENSG00000146426:ENST00000528391:exon11:c.T1273C:p.S425P,ENSG00000146426:ENST00000529824:exon13:c.T3265C:p.S1089P,ENSG00000146426:ENST00000360366:exon14:c.T3337C:p.S1113P,ENSG00000146426:ENST00000318981:exon15:c.T3265C:p.S1089P,ENSG00000146426:ENST00000456144:exon15:c.T3265C:p.S1089P,ENSG00000146426:ENST00000367174:exon16:c.T1393C:p.S465P,ENSG00000146426:ENST00000528535:exon16:c.T3265C:p.S1089P,ENSG00000146426:ENST00000461783:exon18:c.T3265C:p.S1089P Score=435;Name=lod=78 NA 6q25.3 NA NA NA NA rs4259257 0.98 0.98 0.976 0.964257 0.9901 1 0.9841 0.9213 0.9448 0.99 1 0.99 0.93 0.9837 1 0.96 T 0.001 B 0.0 B 0.000 N 0.997 P -1.04 N 2.26 T -1.069 T 0.033 T 0.186 1.236 10.02 5.09 1.154 1.522 12.091 1.236012 1.236012 0.38 0.994767 0.921471 NA 0.986 NA 8.3647664 824 2 88424066 88424066 T C exonic FABP1 NA nonsynonymous SNV FABP1:NM_001443:exon3:c.A280G:p.T94A exonic ENSG00000163586 NA nonsynonymous SNV ENSG00000163586:ENST00000295834:exon3:c.A280G:p.T94A,ENSG00000163586:ENST00000393750:exon3:c.A280G:p.T94A NA NA 2p11.2 Score=904;Name=V$TGIF_01 NA NA NA rs2241883 0.26 0.26 0.232 0.223243 0.3479 0.2073 0.3458 0.1392 0.138 0.34 0.22 0.36 0.12 0.2984 0.36 0.68 T 0.001 B 0.009 B 0.185 N 1.000 P 2.015 M 2.61 T -0.930 T 0.000 T 0.076 0.729 7.875 1.35 0.404 0.541 6.232 0.729033 NA 0.73 0.322558 0.167045 NA 0.217 NA 8.3644754 824 9 90503007 90503007 A G exonic SPATA31E1 NA nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.A3605G:p.D1202G exonic ENSG00000177992 NA nonsynonymous SNV ENSG00000177992:ENST00000325643:exon4:c.A3605G:p.D1202G NA NA 9q22.1 NA NA NA NA rs11789780 0.45 0.45 0.408 0.459864 0.5169 0.3363 0.4049 0.5159 0.4918 0.51 0.34 0.43 0.5 0.4744 0.51 0.37 T 0.988 D 0.83 P 0.348 N 1.000 P 1.24 L 3.81 T -0.922 T 0.000 T 0.085 1.582 11.24 1.51 0.429 1.304 5.746 1.58169 1.58169 0.65 0.478037 0.480356 ID=COSM456205;OCCURENCE=3(breast) 0.464 NA 8.3639964 824 11 87013438 87013438 G A exonic TMEM135 NA nonsynonymous SNV TMEM135:NM_001168724:exon7:c.G586A:p.G196R,TMEM135:NM_022918:exon8:c.G652A:p.G218R exonic ENSG00000166575 NA nonsynonymous SNV ENSG00000166575:ENST00000532959:exon5:c.G265A:p.G89R,ENSG00000166575:ENST00000340353:exon7:c.G586A:p.G196R,ENSG00000166575:ENST00000535167:exon7:c.G235A:p.G79R,ENSG00000166575:ENST00000305494:exon8:c.G652A:p.G218R Score=317;Name=lod=26 NA 11q14.2 NA NA NA NA rs2276102 0.57 0.57 0.598 0.582867 0.6511 0.4425 0.5086 0.5885 0.7025 0.66 0.48 0.52 0.56 0.6239 0.69 . . 0.0 B 0.001 B 0.000 N 0.000 P 0.55 N 1.07 T -0.965 T 0.000 T 0.14 -1.968 0.007 4.31 0.443 2.495 5.749 -1.968483 NA 0.92 0.694348 0.604044 NA 0.601 NA 8.3639854 824 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 824 15 45467540 45467540 C G exonic SHF NA nonsynonymous SNV SHF:NM_138356:exon4:c.G529C:p.A177P exonic ENSG00000138606 NA nonsynonymous SNV ENSG00000138606:ENST00000458022:exon3:c.G118C:p.A40P,ENSG00000138606:ENST00000560471:exon3:c.G724C:p.A242P,ENSG00000138606:ENST00000560540:exon3:c.G724C:p.A242P,ENSG00000138606:ENST00000560734:exon3:c.G724C:p.A242P,ENSG00000138606:ENST00000290894:exon4:c.G529C:p.A177P,ENSG00000138606:ENST00000318390:exon4:c.G700C:p.A234P Score=528;Name=lod=186 NA 15q21.1 NA NA NA NA rs1632144 0.93 0.93 0.929 0.95028 0.997 0.8244 0.9524 0.9811 0.9888 1 0.77 0.97 0.98 0.9763 1 1 T 0.001 B 0.002 B 0.002 N 1.000 P -0.285 N 1.45 T -0.931 T 0.000 T 0.26 -0.177 3.138 5.25 1.223 1.982 7.558 -0.17699 NA 0.97 0.997203 0.98589 NA 0.957 NA 8.3628304 824 2 109099572 109099572 C G exonic GCC2 NA nonsynonymous SNV GCC2:NM_181453:exon12:c.C3400G:p.Q1134E exonic ENSG00000135968 NA nonsynonymous SNV ENSG00000135968:ENST00000393321:exon3:c.C340G:p.Q114E,ENSG00000135968:ENST00000309863:exon12:c.C3400G:p.Q1134E Score=564;Name=lod=262 NA 2q12.3 NA NA NA NA rs2718698 1 1 0.998 0.997404 0.993 1 0.9942 0.9992 0.999 0.99 1 1 1 0.9912 1 1 T 0.0 B 0.0 B 0.000 N 0.998 P -2.125 N 1.82 T -0.930 T 0.000 T 0.133 0.012 4.077 5.13 1.317 3.611 16.155 0.012235 NA 1 0.986512 0.996823 NA 0.993 NA 8.3626214 824 14 24614361 24614361 T G exonic PSME2 NA nonsynonymous SNV PSME2:NM_002818:exon6:c.A266C:p.H89P exonic ENSG00000100911 NA nonsynonymous SNV ENSG00000100911:ENST00000559056:exon5:c.A35C:p.H12P,ENSG00000100911:ENST00000560410:exon5:c.A233C:p.H78P,ENSG00000100911:ENST00000216802:exon6:c.A266C:p.H89P Score=597;Name=lod=356 NA 14q12 NA NA NA NA rs7146672 0.99 0.99 0.992 0.996006 0.9891 1 0.9914 1 0.9969 0.99 1 0.99 1 0.9929 1 1 T 0.0 B 0.0 B . . 0.999 P -2.595 N 2.04 T -0.989 T 0.000 T 0.1 -0.096 3.528 4.39 1.233 4.275 6.047 -0.096265 NA 0.82 0.989186 0.998184 NA 1 NA 8.3621474 824 19 41350664 41350664 A T exonic CYP2A6 NA nonsynonymous SNV CYP2A6:NM_000762:exon8:c.T1175A:p.F392Y exonic ENSG00000255974 NA nonsynonymous SNV ENSG00000255974:ENST00000301141:exon8:c.T1175A:p.F392Y Score=412;Name=lod=63 NA 19q13.2 NA NA NA NA rs1809810 0.99 0.99 0.99 0.986422 0.9841 0.9891 0.9841 0.9939 0.9775 0.98 0.99 0.99 0.99 0.9876 0.99 0.55 T 0.012 B 0.084 B 0.013 U 0.989 P 1.245 L -0.35 T -0.990 T 0.000 T 0.26 1.099 9.484 2.31 0.286 1.695 6.096 1.098798 NA 0.5 NA NA NA 0.978 NA 8.3616334 824 3 119434527 119434527 G C exonic MAATS1 NA nonsynonymous SNV MAATS1:NM_033364:exon6:c.G619C:p.A207P exonic ENSG00000183833 NA nonsynonymous SNV ENSG00000183833:ENST00000273390:exon6:c.G619C:p.A207P,ENSG00000183833:ENST00000463700:exon6:c.G619C:p.A207P Score=546;Name=lod=221 NA 3q13.33 NA NA NA NA rs6438544 0.92 0.92 0.899 0.909944 1 1 0.9784 0.6702 1 1 1 0.98 0.68 0.9727 1 1 T 0.0 B 0.0 B 0.000 N 0.999 P -2.485 N 2.5 T -0.939 T 0.000 T 0.406 0.832 8.354 5.32 1.257 3.125 15.823 0.831632 NA 1 0.99907 0.707444 NA 0.891 NA 8.3615634 824 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 824 2 48807796 48807796 A C exonic STON1,STON1-GTF2A1L NA nonsynonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.A24C:p.K8N,STON1-GTF2A1L:NM_001198593:exon2:c.A24C:p.K8N,STON1:NM_006873:exon2:c.A24C:p.K8N,STON1-GTF2A1L:NM_172311:exon2:c.A24C:p.K8N,STON1:NM_001198595:exon3:c.A24C:p.K8N exonic ENSG00000068781,ENSG00000243244 NA nonsynonymous SNV ENSG00000068781:ENST00000309827:exon1:c.A24C:p.K8N,ENSG00000243244:ENST00000309835:exon1:c.A24C:p.K8N,ENSG00000068781:ENST00000394751:exon1:c.A24C:p.K8N,ENSG00000068781:ENST00000394754:exon2:c.A24C:p.K8N,ENSG00000068781:ENST00000402114:exon2:c.A24C:p.K8N,ENSG00000243244:ENST00000404752:exon2:c.A24C:p.K8N,ENSG00000068781:ENST00000405008:exon2:c.A24C:p.K8N,ENSG00000243244:ENST00000406226:exon3:c.A24C:p.K8N Score=523;Name=lod=178 NA 2p16.3 Score=935;Name=V$AP1FJ_Q2 NA NA NA rs17039250 0.33 0.33 0.348 0.333866 0.3181 0.378 0.3127 0.2784 0.3947 0.33 0.4 0.28 0.29 0.3362 0.4 0.73 T 0.0 B 0.0 B 0.000 N 0.998 P -1.59 N 3.48 T -0.959 T 0.000 T 0.023 -0.791 0.701 1.6 -0.006 0.080 5.418 -0.79063 NA 1 0.319651 0.297095 NA 0.283 NA 8.3593824 824 14 81575005 81575005 C A exonic TSHR NA nonsynonymous SNV TSHR:NM_001018036:exon9:c.C742A:p.R248S,TSHR:NM_001142626:exon9:c.C805A:p.R269S exonic ENSG00000165409 NA nonsynonymous SNV ENSG00000165409:ENST00000342443:exon9:c.C742A:p.R248S,ENSG00000165409:ENST00000554435:exon9:c.C805A:p.R269S NA NA 14q31.1 NA NA NA NA rs3783941 0.58 0.58 0.564 0.610224 0.671 0.3889 0.6239 0.6354 0.7321 0.68 0.39 0.63 0.6 0.6465 0.68 0.75 T 0.0 B 0.001 B . . 1.000 P -0.69 N -1.17 T -1.021 T 0.000 T 0.025 0.873 8.541 -8.59 -2.513 -0.988 1.354 0.873263 NA 1 0.656628 0.614843 NA 0.616 NA 8.3592054 824 17 65989048 65989048 T C exonic C17orf58 NA nonsynonymous SNV C17orf58:NM_181656:exon2:c.A215G:p.E72G exonic ENSG00000186665 NA nonsynonymous SNV ENSG00000186665:ENST00000536693:exon1:c.A215G:p.E72G,ENSG00000186665:ENST00000334461:exon2:c.A215G:p.E72G NA NA 17q24.2 NA Name=FOXA1_(SC-101058) Name=146 NA rs28368756 0.94 0.94 0.907 0.919928 0.998 1 0.9856 0.7057 1 1 1 0.99 0.72 0.9781 1 0.12 T 0.0 B 0.0 B 0.000 D 1.000 P . . . . -1.070 T 0.000 T 0.009 0.758 8.014 -1.04 -0.544 -1.323 3.765 0.75821 NA NA 0.999636 0.769616 NA 0.913 NA 8.3575974 824 1 117660754 117660754 C T exonic TRIM45 NA nonsynonymous SNV TRIM45:NM_001145635:exon2:c.G1124A:p.C375Y,TRIM45:NM_025188:exon2:c.G1124A:p.C375Y exonic ENSG00000134253 NA nonsynonymous SNV ENSG00000134253:ENST00000256649:exon2:c.G1124A:p.C375Y,ENSG00000134253:ENST00000369464:exon2:c.G1124A:p.C375Y,ENSG00000134253:ENST00000369461:exon3:c.G953A:p.C318Y,ENSG00000134253:ENST00000485032:exon3:c.G812A:p.C271Y Score=321;Name=lod=27 NA 1p13.1 NA NA NA NA rs749902 0.23 0.23 0.215 0.224641 0.3529 0.0327 0.3674 0.2103 0.2086 0.35 0.03 0.35 0.21 0.2936 0.35 0.82 T 0.001 B 0.0 B 0.241 N 0.998 P -0.345 N -1.09 T -1.099 T 0.081 T 0.073 -2.539 0.003 0.722 -0.013 1.358 5.400 -2.538963 NA 1 0.329302 0.230141 NA 0.297 NA 8.3575314 824 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 824 4 178359960 178359960 G C exonic AGA NA nonsynonymous SNV AGA:NM_000027:exon4:c.C446G:p.T149S,AGA:NM_001171988:exon4:c.C446G:p.T149S exonic ENSG00000038002 NA nonsynonymous SNV ENSG00000038002:ENST00000502310:exon2:c.C101G:p.T34S,ENSG00000038002:ENST00000264595:exon4:c.C446G:p.T149S NA NA 4q34.3 NA NA NA NA rs2228119 0.93 0.93 0.923 0.920927 0.999 1 0.9741 0.7148 1 1 1 0.98 0.72 0.9782 1 0.72 T 0.0 B 0.0 B 0.035 N 1.000 P -1.275 N -2.11 D -0.973 T 0.000 T 0.17 -1.461 0.019 -4.65 -1.516 -0.155 9.189 -1.461157 NA 0.8 0.998953 0.781434 NA 0.906 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000077944.1;CLNDSDB=.;CLNDSDBID=. 8.3571804 824 1 175348723 175348723 C T exonic TNR NA nonsynonymous SNV TNR:NM_003285:exon9:c.G1928A:p.R643K exonic ENSG00000116147 NA nonsynonymous SNV ENSG00000116147:ENST00000367674:exon9:c.G1928A:p.R643K,ENSG00000116147:ENST00000263525:exon10:c.G1928A:p.R643K Score=464;Name=lod=103 NA 1q25.1 NA NA NA NA rs859427 0.7 0.7 0.703 0.696286 0.6491 0.8065 0.7147 0.646 0.6861 0.64 0.8 0.7 0.68 0.6728 0.8 1 T 0.0 B 0.009 B 0.003 N 0.984 P 0.365 N 0.37 T -0.920 T 0.000 T 0.041 0.324 5.756 2.83 0.271 2.163 2.821 0.323851 NA 0.68 0.654302 0.677258 NA 0.725 NA 8.3571314 824 2 68385097 68385097 A G exonic PNO1 NA nonsynonymous SNV PNO1:NM_020143:exon1:c.A31G:p.R11G exonic ENSG00000115946,ENSG00000221823 NA nonsynonymous SNV ENSG00000115946:ENST00000263657:exon1:c.A31G:p.R11G,ENSG00000115946:ENST00000430742:exon1:c.A31G:p.R11G,ENSG00000221823:ENST00000406334:exon7:c.T593C:p.L198P NA NA 2p14 NA Name=Nrf1,SP1,c-Myc,YY1_(C-20),TCF4,Max,Mxi1_(bHLH),NRSF,Sin3Ak-20,YY1,Egr-1,TBP,CCNT2,BHLHE40,CTCFL_(SC-98982),HA-E2F1,USF-1,Pol2(phosphoS2),USF2,Pol2,CTCF,TCF12,Pol2-4H8,NFKB,TAF1,ETS1,ELF1_(SC-631),HEY1 NA NA rs2044693 0.72 0.72 0.712 0.768371 0.6223 0.6468 0.6844 0.9788 0.819 0.63 0.65 0.68 0.98 0.7064 0.98 0.4 T 0.0 B 0.0 B . . 1.000 P -0.55 N 1.51 T -1.026 T 0.000 T 0.13 1.447 10.78 2.53 0.401 2.069 6.802 1.446643 1.446643 0.43 0.648476 0.920491 ID=COSM443118;OCCURENCE=1(breast),1(pancreas),1(large_intestine) 0.797 NA 8.3561574 824 5 126993263 126993263 A T exonic CTXN3 NA nonsynonymous SNV CTXN3:NM_001048252:exon3:c.A50T:p.E17V,CTXN3:NM_001127385:exon3:c.A50T:p.E17V exonic ENSG00000205279 NA nonsynonymous SNV ENSG00000205279:ENST00000379445:exon3:c.A50T:p.E17V,ENSG00000205279:ENST00000395322:exon3:c.A50T:p.E17V NA NA 5q23.2 Score=846;Name=V$IK1_01 NA NA NA rs248709 0.66 0.66 0.655 0.653355 0.6551 0.6141 0.6037 0.7678 0.5726 0.64 0.61 0.64 0.76 0.6504 0.77 0.35 T 0.0 B 0.0 B 0.076 N 1.000 P . . 1.49 T -0.981 T 0.000 T 0.054 1.152 9.693 -4.23 -1.231 -0.449 5.049 1.15239 NA 0.31 0.672674 0.769178 NA 0.659 NA 8.3551594 825 9 100388197 100388197 C T exonic TSTD2 NA nonsynonymous SNV TSTD2:NM_139246:exon3:c.G248A:p.R83Q exonic ENSG00000136925 NA nonsynonymous SNV ENSG00000136925:ENST00000341170:exon3:c.G248A:p.R83Q Score=407;Name=lod=60 NA 9q22.33 NA NA NA NA rs2773347 0.65 0.65 0.63 0.636981 0.669 0.5169 0.696 0.7746 0.5 0.68 0.49 0.69 0.77 0.6352 0.78 1 T 0.002 B 0.001 B 0.001 N 0.000 P -1.52 N 1.59 T -0.973 T 0.000 T 0.037 -0.386 2.189 2.33 0.340 1.150 3.629 -0.385744 NA 1 0.674419 0.777349 NA 0.609 NA 8.3547144 825 4 57181995 57181995 C T exonic KIAA1211 NA nonsynonymous SNV KIAA1211:NM_020722:exon8:c.C2327T:p.S776L exonic ENSG00000109265 NA nonsynonymous SNV ENSG00000109265:ENST00000504228:exon6:c.C2327T:p.S776L,ENSG00000109265:ENST00000541073:exon7:c.C2306T:p.S769L,ENSG00000109265:ENST00000264229:exon8:c.C2327T:p.S776L NA NA 4q12 NA NA NA NA rs3796547 0.26 0.26 0.25 0.242013 0.34 0.254 0.2334 0.1997 0.1922 0.34 0.25 0.25 0.17 0.2959 0.34 0.7 T 0.049 B 0.007 B . . 1.000 P -0.55 N 2.85 T -0.901 T 0.000 T 0.071 1.425 10.7 -5.82 -1.173 -0.293 10.304 1.425095 1.425095 0.52 0.343088 0.222278 ID=COSM149674;OCCURENCE=1(stomach) 0.239 NA 8.3543454 825 1 230914729 230914729 A C exonic CAPN9 NA nonsynonymous SNV CAPN9:NM_016452:exon8:c.A886C:p.K296Q,CAPN9:NM_006615:exon9:c.A964C:p.K322Q exonic ENSG00000135773 NA nonsynonymous SNV ENSG00000135773:ENST00000366666:exon7:c.A775C:p.K259Q,ENSG00000135773:ENST00000354537:exon8:c.A886C:p.K296Q,ENSG00000135773:ENST00000271971:exon9:c.A964C:p.K322Q NA NA 1q42.2 NA NA NA NA rs1933631 0.29 0.29 0.283 0.33127 0.3201 0.1875 0.2075 0.3888 0.501 0.34 0.18 0.21 0.4 0.3374 0.4 1 T 0.118 B 0.029 B 0.625 N 1.000 P -0.76 N 2.41 T -0.971 T 0.000 T 0.089 0.06 4.329 -3.49 -0.677 1.483 2.078 0.060364 NA 0.4 0.321512 0.378802 NA 0.225 NA 8.3543214 825 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 825 1 22206649 22206649 T C exonic HSPG2 NA nonsynonymous SNV HSPG2:NM_005529:exon17:c.A2294G:p.N765S exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000374695:exon17:c.A2294G:p.N765S Score=598;Name=lod=359 NA 1p36.12 Score=850;Name=V$CHOP_01 NA NA NA rs989994 0.95 0.95 0.929 0.929912 1 1 0.9784 0.7466 0.999 1 1 0.98 0.78 0.9811 1 0.24 T 0.003 B 0.016 B 0.016 N 0.002 P 1.45 L 0.11 T -0.967 T 0.000 T 0.082 2.921 15.74 5.38 2.044 0.803 13.348 2.9213 2.9213 0.23 0.99907 0.810486 NA 0.906 NA 8.3531634 825 3 51990315 51990315 A G exonic GPR62 NA nonsynonymous SNV GPR62:NM_080865:exon1:c.A647G:p.H216R exonic ENSG00000180929 NA nonsynonymous SNV ENSG00000180929:ENST00000322241:exon1:c.A647G:p.H216R Score=493;Name=lod=135 NA 3p21.2 NA NA Name=48 NA rs28651222 1 1 0.996 0.997804 0.992 1 0.9986 1 0.998 0.99 1 1 1 0.9954 1 1 T 0.0 B 0.0 B 0.006 N 0.989 P -2.02 N 4.14 T -0.999 T 0.000 T 0.061 -0.229 2.895 4.59 0.910 5.475 10.110 -0.228893 NA 1 0.992915 0.999609 NA 0.058 NA 8.3530184 825 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 825 X 151303596 151303596 C T exonic MAGEA10 NA nonsynonymous SNV MAGEA10:NM_021048:exon4:c.G497A:p.R166K,MAGEA10:NM_001011543:exon5:c.G497A:p.R166K,MAGEA10:NM_001251828:exon5:c.G497A:p.R166K exonic ENSG00000124260 NA nonsynonymous SNV ENSG00000124260:ENST00000370323:exon4:c.G497A:p.R166K,ENSG00000124260:ENST00000244096:exon5:c.G497A:p.R166K,ENSG00000124260:ENST00000444834:exon5:c.G497A:p.R166K NA NA Xq28 NA NA NA NA rs210585 0.96 0.96 NA NA NA NA NA NA NA 1 1 0.99 0.83 0.9824 1 1 T 0.001 B 0.006 B 0.082 N 1.000 P -0.115 N 3.65 T -0.989 T 0.000 T 0.18 0.57 7.08 -3.22 -1.520 -1.974 6.170 0.56998 NA 1 0.999405 0.823729 NA 0.696 NA 8.3515284 825 19 687142 687142 G A exonic PRSS57 NA nonsynonymous SNV PRSS57:NM_214710:exon4:c.C428T:p.P143L exonic ENSG00000185198 NA nonsynonymous SNV ENSG00000185198:ENST00000329267:exon4:c.C428T:p.P143L Score=295;Name=lod=21 NA 19p13.3 NA NA NA NA rs8102982 1 1 0.999 0.997204 0.994 1 0.9899 1 0.999 0.99 1 0.99 1 0.996 1 1 T 0.002 B 0.0 B 0.009 N 0.995 P -3.565 N -2.21 D -0.918 T 0.000 T 0.289 -0.507 1.68 3.59 0.176 2.161 8.116 -0.506814 NA 1 0.991849 0.997499 NA 0.993 NA 8.3514844 825 6 3727811 3727811 C G exonic PXDC1 NA nonsynonymous SNV PXDC1:NM_183373:exon4:c.G552C:p.Q184H exonic ENSG00000168994 NA nonsynonymous SNV ENSG00000168994:ENST00000380283:exon4:c.G552C:p.Q184H Score=500;Name=lod=144 NA 6p25.2 NA NA NA NA rs226959 0.65 0.65 0.649 0.650958 0.662 0.6131 0.572 0.6831 0.6912 0.67 0.61 0.62 0.7 0.6599 0.7 0.2 T 0.0 B 0.0 B 0.000 N 1.000 P -1.245 N 1.59 T -0.955 T 0.008 T 0.221 1.269 10.14 4.51 0.626 0.981 4.717 1.268889 1.268889 0.11 0.660581 0.654562 NA 0.638 NA 8.3508524 825 20 2321105 2321105 G C exonic TGM3 NA nonsynonymous SNV TGM3:NM_003245:exon13:c.G1960C:p.G654R exonic ENSG00000125780 NA nonsynonymous SNV ENSG00000125780:ENST00000381458:exon13:c.G1960C:p.G654R Score=485;Name=lod=125 NA 20p13 NA Name=CTCF NA NA rs214830 0.77 0.77 0.777 0.810503 0.6561 0.8641 0.732 0.9266 0.8129 0.65 0.84 0.67 0.94 0.7121 0.94 1 T 0.0 B 0.0 B 0.038 N 1.000 P -1.545 N -0.27 T -0.960 T 0.000 T 0.038 -0.363 2.288 3.4 0.545 0.484 7.160 -0.363051 NA 1 0.615 0.871085 NA 0.725 NA 8.3501334 825 5 149360877 149360877 T C exonic SLC26A2 NA nonsynonymous SNV SLC26A2:NM_000112:exon3:c.T1721C:p.I574T exonic ENSG00000155850 NA nonsynonymous SNV ENSG00000155850:ENST00000286298:exon3:c.T1721C:p.I574T NA NA 5q32 NA NA NA NA rs30832 1 1 1 NA NA NA NA NA NA 0.99 1 0.99 1 0.9928 1 0.46 T 0.0 B 0.0 B 0.002 N 1.000 P -0.69 N -2.26 D -0.948 T 0.000 T 0.007 -2.291 0.004 4.37 0.476 1.639 9.899 -2.290533 NA 1 0.990812 0.997957 NA 0.993 NA 8.3497214 825 2 166788336 166788336 T C exonic TTC21B NA nonsynonymous SNV TTC21B:NM_024753:exon8:c.A826G:p.T276A exonic ENSG00000123607 NA nonsynonymous SNV ENSG00000123607:ENST00000243344:exon8:c.A826G:p.T276A Score=346;Name=lod=34 NA 2q24.3 NA NA NA NA rs7592429 0.95 0.95 0.933 0.948083 0.999 1 0.9813 0.8139 1 1 1 0.97 0.8 0.9853 1 1 T 0.0 B 0.0 B 0.001 N 0.000 P -1.74 N 0.79 T -0.941 T 0.000 T 0.019 -0.683 1.026 2.14 0.266 1.682 11.458 -0.683355 NA 1 1 0.839764 NA 0.957 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000118732.2;CLNDSDB=.;CLNDSDBID=. 8.3490334 825 21 16340289 16340289 C T exonic NRIP1 NA synonymous SNV NRIP1:NM_003489:exon4:c.G225A:p.G75G exonic ENSG00000180530 NA synonymous SNV ENSG00000180530:ENST00000400199:exon3:c.G225A:p.G75G,ENSG00000180530:ENST00000400202:exon3:c.G225A:p.G75G,ENSG00000180530:ENST00000318948:exon4:c.G225A:p.G75G Score=653;Name=lod=600 Name=Cognitive performance 21q11.2 Score=921;Name=V$HAND1E47_01 Name=GATA3_(SC-268) NA NA rs2229741 0.59 0.59 0.589 0.599441 0.4026 0.7738 0.549 0.7829 0.41 0.39 0.79 0.55 0.71 0.4972 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 0.261267 NA NA 0.417907 0.719473 ID=COSM1130565;OCCURENCE=1(prostate) 0.558 NA 8.3489596 825 4 79387464 79387464 A G exonic FRAS1 NA nonsynonymous SNV FRAS1:NM_025074:exon50:c.A7132G:p.K2378E exonic ENSG00000138759 NA nonsynonymous SNV ENSG00000138759:ENST00000264895:exon50:c.A7132G:p.K2378E Score=595;Name=lod=350 NA 4q21.21 NA NA NA NA rs7684722 0.98 0.98 0.974 0.967652 0.998 1 0.9899 0.8843 1 1 1 0.99 0.91 0.9901 1 1 T 0.0 B 0.0 B 0.001 N 0.000 P -0.83 N 1.6 T -0.928 T 0.000 T 0.322 2.319 13.71 5.53 1.494 7.674 14.982 2.319073 2.319073 1 0.997065 0.915002 NA 0.986 NA 8.3481684 825 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 825 17 79171967 79171967 A G exonic AZI1 NA nonsynonymous SNV AZI1:NM_001009811:exon12:c.T1418C:p.V473A,AZI1:NM_014984:exon12:c.T1418C:p.V473A exonic ENSG00000141577 NA nonsynonymous SNV ENSG00000141577:ENST00000269392:exon12:c.T1418C:p.V473A,ENSG00000141577:ENST00000374782:exon12:c.T1418C:p.V473A,ENSG00000141577:ENST00000450824:exon12:c.T1418C:p.V473A,ENSG00000141577:ENST00000575907:exon12:c.T1418C:p.V473A Score=340;Name=lod=32 NA 17q25.3 NA NA NA NA rs2659016 0.97 0.97 0.965 0.967652 0.997 1 0.987 0.8865 1 1 1 0.99 0.86 0.99 1 0.65 T 0.0 B 0.001 B 0.001 D 1.000 P 0.345 N 2.04 T -0.962 T 0.000 T 0.075 -0.036 3.831 3.61 0.957 0.607 5.245 -0.035812 NA 0.29 0.999184 0.910927 NA 0.964 NA 8.3471494 825 5 150923405 150923405 A G exonic FAT2 NA nonsynonymous SNV FAT2:NM_001447:exon9:c.T7283C:p.F2428S exonic ENSG00000086570 NA nonsynonymous SNV ENSG00000086570:ENST00000261800:exon9:c.T7283C:p.F2428S Score=528;Name=lod=186 NA 5q33.1 NA NA NA NA rs6892335 1 1 1 0.997604 0.994 1 0.9957 1 0.9969 1 1 1 1 0.9967 1 0.83 T 0.0 B 0.0 B 0.002 N 1.000 P -1.93 N 0.85 T -0.962 T 0.000 T 0.04 0.881 8.573 4.7 1.375 2.327 10.034 0.880577 NA 0.28 0.995698 0.998638 NA 1 NA 8.3469354 825 19 42703833 42703833 A G exonic DEDD2 NA synonymous SNV DEDD2:NM_001270614:exon5:c.T738C:p.S246S,DEDD2:NM_001270615:exon5:c.T723C:p.S241S,DEDD2:NM_133328:exon5:c.T738C:p.S246S exonic ENSG00000160570 NA synonymous SNV ENSG00000160570:ENST00000336034:exon5:c.T723C:p.S241S,ENSG00000160570:ENST00000595337:exon5:c.T738C:p.S246S,ENSG00000160570:ENST00000596251:exon5:c.T738C:p.S246S Score=553;Name=lod=235 NA 19q13.2 NA Name=CCNT2,EBF1_(C-8),HMGN3,Pol2,TCF12 Name=31 NA rs2303652 0.12 0.12 0.114 0.129193 0.0934 0.0873 0.1138 0.1581 0.181 0.09 0.08 0.13 0.19 0.1238 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 1.623488 1.623488 NA 0.103256 0.163414 NA 0.094 NA 8.3462106 825 9 135105964 135105964 A G exonic NTNG2 NA nonsynonymous SNV NTNG2:NM_032536:exon5:c.A1036G:p.T346A exonic ENSG00000196358 NA nonsynonymous SNV ENSG00000196358:ENST00000372179:exon5:c.A1036G:p.T346A,ENSG00000196358:ENST00000393229:exon5:c.A1036G:p.T346A Score=459;Name=lod=98 NA 9q34.13 NA NA NA NA rs4962173 1 1 0.997 0.998602 0.996 1 1 0.9985 0.999 0.99 1 1 1 0.9952 1 1 T 0.0 B 0.0 B . . 0.000 P 0 N 0.97 T -0.936 T 0.000 T 0.101 -0.726 0.891 5.07 1.143 2.079 9.755 -0.725565 NA 0.77 0.995928 0.999091 NA 0.609 NA 8.3462054 825 1 33957152 33957152 T G exonic ZSCAN20 NA nonsynonymous SNV ZSCAN20:NM_145238:exon6:c.T1294G:p.Y432D exonic ENSG00000121903 NA nonsynonymous SNV ENSG00000121903:ENST00000373413:exon4:c.T1132G:p.Y378D,ENSG00000121903:ENST00000361328:exon6:c.T1294G:p.Y432D Score=343;Name=lod=33 NA 1p35.1 NA NA NA NA rs4403594 1 1 1 0.999201 0.996 1 1 1 1 1 1 1 1 0.9944 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.25 N 4.7 T -0.966 T 0.000 T 0.294 -0.168 3.179 5.61 1.535 2.469 14.205 -0.168236 NA 1 0.996984 0.999232 NA 1 NA 8.3459494 825 15 91524841 91524841 G T exonic PRC1 NA nonsynonymous SNV PRC1:NM_001267580:exon4:c.C437A:p.A146E,PRC1:NM_003981:exon5:c.C560A:p.A187E,PRC1:NM_199413:exon5:c.C560A:p.A187E exonic ENSG00000198901 NA nonsynonymous SNV ENSG00000198901:ENST00000442656:exon4:c.C437A:p.A146E,ENSG00000198901:ENST00000557905:exon4:c.C437A:p.A146E,ENSG00000198901:ENST00000361188:exon5:c.C560A:p.A187E,ENSG00000198901:ENST00000361919:exon5:c.C560A:p.A187E,ENSG00000198901:ENST00000394249:exon5:c.C560A:p.A187E Score=495;Name=lod=137 NA 15q26.1 NA NA NA NA rs7172758 1 1 1 0.998802 0.996 1 0.9971 1 1 1 1 0.99 1 0.997 1 1 T 0.0 B 0.0 B 0.000 N 0.986 P -2.34 N 1.6 T -0.954 T 0.000 T 0.48 1.082 9.417 5.26 1.031 5.469 12.311 1.08214 NA 1 0.994881 0.998635 NA 1 NA 8.3454524 826 1 219383905 219383905 A G exonic LYPLAL1 NA nonsynonymous SNV LYPLAL1:NM_138794:exon4:c.A393G:p.I131M exonic ENSG00000143353 NA nonsynonymous SNV ENSG00000143353:ENST00000366927:exon4:c.A345G:p.I115M,ENSG00000143353:ENST00000366928:exon4:c.A393G:p.I131M Score=564;Name=lod=261 NA 1q41 NA NA NA NA rs940570 0.97 0.97 0.949 0.963259 1 1 0.9957 0.8631 1 1 1 0.99 0.85 0.9895 1 0.23 T 0.0 B 0.001 B 0.000 N 1.000 P -0.865 N 1.9 T -0.954 T 0.000 T 0.285 1.797 11.97 4.09 1.554 1.712 11.965 1.796658 1.796658 0.65 0.999767 0.895824 NA 0.899 NA 8.3440664 826 13 24411772 24411772 T C exonic MIPEP NA nonsynonymous SNV MIPEP:NM_005932:exon13:c.A1462G:p.S488G exonic ENSG00000027001 NA nonsynonymous SNV ENSG00000027001:ENST00000382172:exon13:c.A1462G:p.S488G Score=389;Name=lod=51 NA 13q12.12 NA NA NA NA rs7333040 0.99 0.99 0.981 0.983027 0.998 1 0.9957 0.944 0.9939 1 1 0.99 0.95 0.9936 1 1 T 0.0 B 0.006 B 0.000 N 0.992 P -0.155 N 3.1 T -0.918 T 0.000 T 0.148 1.121 9.569 5.82 1.486 5.995 15.207 1.120603 NA 1 0.998256 0.959374 NA 0.993 NA 8.3434774 826 12 58335626 58335626 A T exonic XRCC6BP1 NA nonsynonymous SNV XRCC6BP1:NM_033276:exon1:c.A142T:p.S48C exonic ENSG00000166896 NA nonsynonymous SNV ENSG00000166896:ENST00000300145:exon1:c.A142T:p.S48C NA NA 12q14.1 NA Name=NFKB,Pol2,HA-E2F1,Ini1,CCNT2,AP-2gamma,Pol2(b),AP-2alpha,YY1_(C-20) Name=148 NA rs3751325 0.36 0.36 0.305 0.332268 0.3131 0.6429 0.3761 0.0794 0.3425 0.32 0.66 0.35 0.1 0.3589 0.66 0.18 T 0.369 B 0.112 B 0.172 N 1.000 P 0.55 N 0.89 T -0.965 T 0.000 T 0.333 -0.245 2.822 -0.82 0.069 0.658 7.806 -0.244563 NA 0.18 0.317874 0.114861 ID=COSM431609;OCCURENCE=1(breast) 0.283 NA 8.3434594 826 6 12122174 12122174 A G exonic HIVEP1 NA nonsynonymous SNV HIVEP1:NM_002114:exon4:c.A2146G:p.T716A exonic ENSG00000095951 NA nonsynonymous SNV ENSG00000095951:ENST00000379388:exon4:c.A2146G:p.T716A NA NA 6p24.1 NA NA NA NA rs2228210 0.22 0.22 0.204 0.208267 0.34 0.2232 0.245 0.0204 0.2853 0.33 0.23 0.24 0.03 0.3003 0.35 . . 0.003 B 0.001 B 0.258 N 0.936 P 0.405 N 3.25 T -0.909 T 0.003 T 0.016 0.956 8.9 -7.64 -1.190 -0.339 8.191 0.956058 NA 0.35 0.349833 0.065707 NA 0.254 NA 8.3432004 826 3 69245454 69245454 T C exonic FRMD4B NA nonsynonymous SNV FRMD4B:NM_015123:exon14:c.A1186G:p.T396A exonic ENSG00000114541 NA nonsynonymous SNV ENSG00000114541:ENST00000462512:exon4:c.A319G:p.T107A,ENSG00000114541:ENST00000478263:exon4:c.A142G:p.T48A,ENSG00000114541:ENST00000398540:exon14:c.A1186G:p.T396A,ENSG00000114541:ENST00000542259:exon15:c.A1024G:p.T342A Score=340;Name=lod=32 NA 3p14.1 NA NA NA NA rs9310141 0.97 0.97 0.965 0.969848 0.999 1 0.9942 0.8903 0.999 1 1 1 0.87 0.9914 1 0.52 T 0.0 B 0.0 B 0.022 N 0.997 P -0.69 N -1.44 T -0.952 T 0.000 T 0.082 2.625 14.74 6.07 1.598 1.672 15.696 2.624966 2.624966 0.6 0.999757 0.898705 NA 0.993 NA 8.3431764 826 15 78780104 78780104 T C exonic IREB2 NA nonsynonymous SNV IREB2:NM_004136:exon14:c.T1739C:p.I580T exonic ENSG00000136381 NA nonsynonymous SNV ENSG00000136381:ENST00000258886:exon14:c.T1739C:p.I580T Score=514;Name=lod=163 NA 15q25.1 NA NA NA NA rs2230940 0.98 0.98 0.969 0.976038 1 1 0.9971 0.9107 1 1 1 1 0.91 0.991 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -4.235 N 2.45 T -0.944 T 0.000 T 0.364 0.412 6.236 4.93 1.084 3.376 9.226 0.411725 NA 1 0.999651 0.89663 NA 0.957 NA 8.3426824 826 17 80006957 80006957 A C exonic RFNG NA nonsynonymous SNV RFNG:NM_002917:exon7:c.T864G:p.H288Q exonic ENSG00000169733 NA nonsynonymous SNV ENSG00000169733:ENST00000429557:exon6:c.T486G:p.H162Q,ENSG00000169733:ENST00000310496:exon7:c.T864G:p.H288Q NA NA 17q25.3 NA NA NA NA rs12948507 0.56 0.56 0.54 0.530551 0.663 0.3085 0.6412 0.562 0.502 0.67 0.32 0.65 0.61 0.6313 0.7 0.3 T 0.021 B 0.033 B 0.214 N 1.000 P 1.39 L 0.02 T -0.986 T 0.000 T 0.053 -0.753 0.809 -7.1 -1.985 -1.536 3.15 -0.752795 NA NA 0.696512 0.579891 NA 0.594 NA 8.3425214 826 3 49548008 49548008 C G exonic DAG1 NA nonsynonymous SNV DAG1:NM_001177639:exon2:c.C41G:p.S14W,DAG1:NM_001177643:exon2:c.C41G:p.S14W,DAG1:NM_001177644:exon2:c.C41G:p.S14W,DAG1:NM_004393:exon2:c.C41G:p.S14W,DAG1:NM_001177635:exon3:c.C41G:p.S14W,DAG1:NM_001177637:exon3:c.C41G:p.S14W,DAG1:NM_001177638:exon3:c.C41G:p.S14W,DAG1:NM_001177640:exon3:c.C41G:p.S14W,DAG1:NM_001177641:exon3:c.C41G:p.S14W,DAG1:NM_001177642:exon3:c.C41G:p.S14W,DAG1:NM_001177636:exon4:c.C41G:p.S14W,DAG1:NM_001165928:exon5:c.C41G:p.S14W,DAG1:NM_001177634:exon5:c.C41G:p.S14W exonic ENSG00000173402 NA nonsynonymous SNV ENSG00000173402:ENST00000308775:exon2:c.C41G:p.S14W,ENSG00000173402:ENST00000421560:exon2:c.C41G:p.S14W,ENSG00000173402:ENST00000515359:exon2:c.C41G:p.S14W,ENSG00000173402:ENST00000539901:exon2:c.C41G:p.S14W,ENSG00000173402:ENST00000418588:exon3:c.C41G:p.S14W,ENSG00000173402:ENST00000431960:exon3:c.C41G:p.S14W,ENSG00000173402:ENST00000435508:exon3:c.C41G:p.S14W,ENSG00000173402:ENST00000452060:exon3:c.C41G:p.S14W,ENSG00000173402:ENST00000452317:exon3:c.C41G:p.S14W,ENSG00000173402:ENST00000538711:exon3:c.C41G:p.S14W,ENSG00000173402:ENST00000541308:exon3:c.C41G:p.S14W,ENSG00000173402:ENST00000419218:exon4:c.C41G:p.S14W,ENSG00000173402:ENST00000428779:exon5:c.C41G:p.S14W,ENSG00000173402:ENST00000545947:exon5:c.C41G:p.S14W Score=422;Name=lod=69 NA 3p21.31 NA NA NA NA rs2131107 0.98 0.98 0.975 0.965855 0.999 1 0.9885 0.8775 1 1 1 0.99 0.92 0.9923 1 1 T 0.0 B 0.0 B 0.013 N 1.000 P -1.355 N 1.12 T -0.946 T 0.000 T 0.475 -1.838 0.009 4.69 0.697 2.069 10.554 -1.838202 NA 1 0.999535 0.921244 NA 0.957 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000024443.1;CLNDSDB=.;CLNDSDBID=. 8.3424984 826 10 125506302 125506302 T C exonic CPXM2 NA nonsynonymous SNV CPXM2:NM_198148:exon14:c.A2249G:p.Q750R exonic ENSG00000121898 NA nonsynonymous SNV ENSG00000121898:ENST00000241305:exon14:c.A2249G:p.Q750R NA NA 10q26.13 NA Name=Egr-1 NA NA rs7088479 0.99 0.99 0.992 0.986422 0.998 1 0.9957 0.9523 1 1 1 0.99 0.96 0.9945 1 1 T 0.0 B 0.0 B 0.685 N 1.000 P -1.265 N -3.68 D -0.920 T 0.000 T 0.067 -1.609 0.013 4.34 0.810 2.745 10.297 -1.608875 NA 1 0.998488 0.950522 NA 0.957 NA 8.3423454 826 4 177073026 177073026 G A exonic WDR17 NA nonsynonymous SNV WDR17:NM_181265:exon17:c.G2368A:p.A790T,WDR17:NM_170710:exon18:c.G2440A:p.A814T exonic ENSG00000150627 NA nonsynonymous SNV ENSG00000150627:ENST00000393643:exon17:c.G2368A:p.A790T,ENSG00000150627:ENST00000507824:exon17:c.G2389A:p.A797T,ENSG00000150627:ENST00000508596:exon17:c.G2368A:p.A790T,ENSG00000150627:ENST00000280190:exon18:c.G2440A:p.A814T Score=533;Name=lod=196 NA 4q34.2 NA NA NA NA rs4690661 0.98 0.98 0.98 0.975839 0.998 1 0.987 0.9168 1 1 1 0.99 0.92 0.9935 1 0.9 T 0.0 B 0.0 B 0.000 N 1.000 P -1.39 N 0.54 T -0.950 T 0.000 T 0.149 0.629 7.383 5.55 0.952 5.877 11.643 0.629148 NA 0.87 0.999535 0.941217 NA 0.935 NA 8.3422984 826 1 20987873 20987873 G C exonic DDOST NA nonsynonymous SNV DDOST:NM_005216:exon1:c.C22G:p.R8G exonic ENSG00000244038 NA nonsynonymous SNV ENSG00000244038:ENST00000375048:exon1:c.C22G:p.R8G,ENSG00000244038:ENST00000415136:exon1:c.C22G:p.R8G NA NA 1p36.12 Score=894;Name=V$E47_02 Name=GATA3_(SC-268),TCF12,SETDB1,Sin3Ak-20,TAF7_(SQ-8),SIX5,E2F4,POU2F2,Mxi1_(bHLH),CTCF,Pol2,USF-1,YY1_(C-20),c-Myc,Oct-2,USF1_(SC-8983),SRF,HA-E2F1,GATA-2,HEY1,ZNF263,ELF1_(SC-631),GATA-1,ELK4,HMGN3,ZEB1_(SC-25388),TAF1,CCNT2,TBP,NFKB,TR4,YY1,NF-YB,NANOG_(SC-33759),Pol2-4H8,ZBTB7A_(SC-34508),GABP NA NA rs537816 0.98 0.98 0.978 0.973043 0.999 1 0.9942 0.9017 1 1 1 0.99 0.92 0.9925 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 0.88 T -0.922 T 0.000 T 0.21 -0.473 1.82 3.4 1.505 0.219 5.342 -0.472585 NA 1 0.999649 0.925697 NA 0.957 NA 8.3421844 826 19 17330060 17330060 T C exonic USE1 NA nonsynonymous SNV USE1:NM_018467:exon7:c.T461C:p.L154S exonic ENSG00000053501 NA nonsynonymous SNV ENSG00000053501:ENST00000593597:exon6:c.T338C:p.L113S,ENSG00000053501:ENST00000263897:exon7:c.T461C:p.L154S,ENSG00000053501:ENST00000445667:exon7:c.T461C:p.L154S Score=576;Name=lod=293 NA 19p13.11 NA NA NA NA rs414528 0.98 0.98 0.984 0.984824 1 0.9315 0.9914 1 0.999 1 0.94 1 1 0.9916 1 0.82 T 0.0 B 0.0 B 0.000 N 0.000 P -2.075 N 1.18 T -0.962 T 0.000 T 0.201 0.28 5.517 4.73 1.013 4.781 12.204 0.280423 NA 1 0.999762 0.999265 NA 0.964 NA 8.3419714 826 15 78758677 78758677 G C exonic IREB2 NA nonsynonymous SNV IREB2:NM_004136:exon5:c.G475C:p.V159L exonic ENSG00000136381 NA nonsynonymous SNV ENSG00000136381:ENST00000258886:exon5:c.G475C:p.V159L,ENSG00000136381:ENST00000558570:exon5:c.G475C:p.V159L,ENSG00000136381:ENST00000560440:exon5:c.G475C:p.V159L Score=428;Name=lod=73 NA 15q25.1 NA NA Name=2 NA rs2958720 0.98 0.98 0.973 0.977636 1 1 0.9971 0.9168 1 1 1 1 0.91 0.9916 1 0.2 T 0.0 B 0.0 B 0.001 N 1.000 P -0.805 N 2.37 T -0.941 T 0.000 T 0.158 2.775 15.24 6.08 1.603 0.871 15.933 2.774766 2.774766 0.31 0.999767 0.902322 NA 0.942 NA 8.3419664 826 2 116525960 116525960 G A exonic DPP10 NA nonsynonymous SNV DPP10:NM_001004360:exon13:c.G1180A:p.V394I,DPP10:NM_001178034:exon13:c.G1213A:p.V405I,DPP10:NM_001178037:exon13:c.G1189A:p.V397I,DPP10:NM_020868:exon13:c.G1201A:p.V401I,DPP10:NM_001178036:exon14:c.G1051A:p.V351I exonic ENSG00000175497 NA nonsynonymous SNV ENSG00000175497:ENST00000310323:exon13:c.G1180A:p.V394I,ENSG00000175497:ENST00000393147:exon13:c.G1213A:p.V405I,ENSG00000175497:ENST00000410059:exon13:c.G1201A:p.V401I,ENSG00000175497:ENST00000409163:exon14:c.G1051A:p.V351I Score=524;Name=lod=179 NA 2q14.1 NA NA NA NA rs1446495 0.97 0.97 0.97 0.96905 1 1 0.9914 0.8873 1 1 1 0.99 0.88 0.9917 1 1 T 0.001 B 0.001 B 0.000 N 1.000 P -1.675 N 1.81 T -0.957 T 0.000 T 0.209 0.832 8.358 5.25 1.016 6.278 10.236 0.832434 NA 1 0.999767 0.909669 NA 0.957 NA 8.3418664 826 2 179615931 179615931 C G exonic TTN NA nonsynonymous SNV TTN:NM_133379:exon46:c.G11196C:p.L3732F exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000360870:exon46:c.G11196C:p.L3732F NA NA 2q31.2 NA NA NA NA rs922985 0.98 0.98 0.968 0.97504 1 1 0.9971 0.907 1 1 1 1 0.91 0.9926 1 0.05 D 0.003 B 0.004 B . . 1.000 P 0.345 N 0.25 T -0.973 T 0.000 T 0.008 0.21 5.131 3.9 1.516 -0.147 5.488 0.209868 NA 0.05 0.999185 0.9203 NA 0.964 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041004.1|RCV000126059.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.3415484 826 13 32929387 32929387 T C exonic BRCA2 NA nonsynonymous SNV BRCA2:NM_000059:exon14:c.T7397C:p.V2466A exonic ENSG00000139618 NA nonsynonymous SNV ENSG00000139618:ENST00000380152:exon14:c.T7397C:p.V2466A,ENSG00000139618:ENST00000544455:exon14:c.T7397C:p.V2466A NA NA 13q13.1 NA NA NA NA rs169547 0.98 0.98 0.974 0.975839 0.999 1 0.9971 0.9107 1 1 1 0.99 0.9 0.9937 1 1 T . . . . 0.194 N 1.000 P . . 5.95 T -0.930 T 0.000 T 0.128 -0.279 2.662 5.07 1.274 2.353 12.092 -0.279488 NA 0.98 0.999418 0.935286 NA 0.935 CLINSIG=untested|unknown|non-pathogenic;CLNDBN=Familial_cancer_of_breast|Breast-ovarian_cancer\x2c_familial_2|not_provided,not_specified;CLNREVSTAT=not|single|single,not;CLNACC=RCV000045197.2|RCV000113751.1|RCV000123993.1,RCV000120357.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet|.,.;CLNDSDBID=NBK1247:C0346153:114480:254843006|NBK1247:C2675520:612555:ORPHA145|.,. 8.3412154 826 12 78225374 78225374 A G exonic NAV3 NA nonsynonymous SNV NAV3:NM_014903:exon1:c.A133G:p.T45A exonic ENSG00000067798 NA nonsynonymous SNV ENSG00000067798:ENST00000228327:exon1:c.A133G:p.T45A,ENSG00000067798:ENST00000266692:exon1:c.A133G:p.T45A,ENSG00000067798:ENST00000397909:exon1:c.A133G:p.T45A,ENSG00000067798:ENST00000536525:exon1:c.A133G:p.T45A,ENSG00000067798:ENST00000549464:exon1:c.A133G:p.T45A Score=584;Name=lod=316 NA 12q21.2 NA NA Name=3 NA rs10735309 0.98 0.98 0.979 0.975439 1 1 0.987 0.9138 1 1 1 1 0.91 0.9928 1 1 T 0.0 B 0.0 B . . 0.000 P -0.55 N 0.32 T -0.940 T 0.000 T 0.121 0.023 4.131 4.51 0.546 0.981 4.018 0.022669 NA 0.33 0.999515 0.916004 NA 0.942 NA 8.3410184 826 11 65144075 65144075 T C exonic SLC25A45 NA nonsynonymous SNV SLC25A45:NM_001077241:exon6:c.A544G:p.M182V,SLC25A45:NM_182556:exon7:c.A670G:p.M224V exonic ENSG00000162241 NA nonsynonymous SNV ENSG00000162241:ENST00000526432:exon5:c.A484G:p.M162V,ENSG00000162241:ENST00000534028:exon5:c.A598G:p.M200V,ENSG00000162241:ENST00000294187:exon6:c.A544G:p.M182V,ENSG00000162241:ENST00000360662:exon6:c.A598G:p.M200V,ENSG00000162241:ENST00000377152:exon6:c.A358G:p.M120V,ENSG00000162241:ENST00000527174:exon6:c.A670G:p.M224V,ENSG00000162241:ENST00000398802:exon7:c.A670G:p.M224V,ENSG00000162241:ENST00000417511:exon10:c.A544G:p.M182V Score=499;Name=lod=142 NA 11q13.1 NA NA NA NA rs624307 0.98 0.98 0.975 0.971446 1 1 0.9856 0.8994 1 1 1 0.98 0.92 0.9927 1 1 T 0.0 B 0.0 B . . 0.970 P -2.665 N -0.58 T -0.958 T 0.000 T 0.169 0.494 6.68 4.74 1.380 4.205 11.274 0.494015 NA 1 0.999882 0.92365 NA 0.971 NA 8.3407514 826 4 68784774 68784774 T C exonic TMPRSS11A NA nonsynonymous SNV TMPRSS11A:NM_001114387:exon8:c.A869G:p.Q290R,TMPRSS11A:NM_182606:exon8:c.A878G:p.Q293R exonic ENSG00000187054 NA nonsynonymous SNV ENSG00000187054:ENST00000513536:exon6:c.A770G:p.Q257R,ENSG00000187054:ENST00000334830:exon8:c.A878G:p.Q293R,ENSG00000187054:ENST00000396188:exon8:c.A869G:p.Q290R,ENSG00000187054:ENST00000508048:exon8:c.A866G:p.Q289R NA NA 4q13.2 NA NA NA NA rs353163 0.73 0.73 0.745 0.73143 0.6312 0.8194 0.5793 0.8646 0.6718 0.64 0.83 0.6 0.86 0.6779 0.86 1 T 0.0 B 0.0 B 0.000 N 1.000 P . . -3.09 D -0.930 T 0.000 T 0.029 -2.034 0.006 4.51 0.640 1.452 8.063 -2.034154 NA 1 0.683605 0.835906 NA 0.616 NA 8.3406284 826 9 134350647 134350647 T C exonic PRRC2B NA nonsynonymous SNV PRRC2B:NM_013318:exon15:c.T3131C:p.M1044T exonic ENSG00000130723 NA nonsynonymous SNV ENSG00000130723:ENST00000357304:exon15:c.T3131C:p.M1044T Score=235;Name=lod=12 NA 9q34.13 NA NA NA NA rs10793873 0.98 0.98 0.98 0.98123 1 1 0.9914 0.9334 1 1 1 0.99 0.93 0.9934 1 . . 0.0 B 0.0 B . . 0.000 P -1.61 N 4.8 T -0.946 T 0.000 T 0.068 -1.594 0.014 5.96 1.551 4.348 9.449 -1.593519 NA 1 0.999392 0.929293 NA 0.971 NA 8.3405414 826 3 133485133 133485133 A G exonic TF NA nonsynonymous SNV TF:NM_001063:exon12:c.A1342G:p.I448V exonic ENSG00000091513 NA nonsynonymous SNV ENSG00000091513:ENST00000264998:exon11:c.A961G:p.I321V,ENSG00000091513:ENST00000402696:exon12:c.A1342G:p.I448V Score=374;Name=lod=44 NA 3q22.1 NA NA NA NA rs2692696 0.99 0.99 0.998 0.993211 1 0.999 0.9539 0.9992 1 1 1 0.96 1 0.9932 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.86 N 2.05 T -0.959 T 0.000 T 0.237 -0.845 0.562 4.87 1.433 6.836 12.755 -0.844889 NA 1 0.999767 0.999319 NA 0.993 NA 8.3403664 826 10 97192324 97192324 A G exonic SORBS1 NA nonsynonymous SNV SORBS1:NM_001034957:exon3:c.T86C:p.L29P,SORBS1:NM_006434:exon3:c.T86C:p.L29P,SORBS1:NM_001034954:exon4:c.T182C:p.L61P,SORBS1:NM_001034955:exon4:c.T182C:p.L61P,SORBS1:NM_001034956:exon4:c.T182C:p.L61P,SORBS1:NM_015385:exon5:c.T86C:p.L29P,SORBS1:NM_024991:exon6:c.T182C:p.L61P exonic ENSG00000095637 NA nonsynonymous SNV ENSG00000095637:ENST00000371239:exon3:c.T86C:p.L29P,ENSG00000095637:ENST00000371241:exon3:c.T86C:p.L29P,ENSG00000095637:ENST00000277982:exon4:c.T182C:p.L61P,ENSG00000095637:ENST00000354106:exon4:c.T182C:p.L61P,ENSG00000095637:ENST00000361941:exon4:c.T182C:p.L61P,ENSG00000095637:ENST00000371245:exon4:c.T182C:p.L61P,ENSG00000095637:ENST00000492542:exon4:c.T86C:p.L29P,ENSG00000095637:ENST00000371249:exon5:c.T86C:p.L29P,ENSG00000095637:ENST00000607232:exon5:c.T86C:p.L29P,ENSG00000095637:ENST00000306402:exon6:c.T182C:p.L61P,ENSG00000095637:ENST00000347291:exon6:c.T182C:p.L61P,ENSG00000095637:ENST00000353505:exon6:c.T182C:p.L61P,ENSG00000095637:ENST00000371227:exon6:c.T182C:p.L61P,ENSG00000095637:ENST00000371246:exon6:c.T182C:p.L61P,ENSG00000095637:ENST00000371247:exon6:c.T182C:p.L61P,ENSG00000095637:ENST00000393949:exon6:c.T182C:p.L61P Score=505;Name=lod=151 NA 10q24.1 NA NA NA NA rs943542 0.98 0.98 0.971 0.980831 1 1 0.9971 0.9289 1 1 1 0.99 0.91 0.9937 1 1 T 0.001 B 0.002 B 0.002 N 0.002 P -0.975 N 4.28 T -0.946 T 0.000 T 0.323 0.304 5.646 5.75 1.443 4.568 12.445 0.303821 NA 1 0.999651 0.942124 NA 0.957 NA 8.3399824 826 17 38978536 38978536 A C exonic KRT10 NA nonsynonymous SNV KRT10:NM_000421:exon1:c.T302G:p.I101S exonic ENSG00000186395 NA nonsynonymous SNV ENSG00000186395:ENST00000269576:exon1:c.T302G:p.I101S Score=295;Name=lod=21 NA 17q21.2 NA NA NA NA rs4261597 1 1 1 0.999201 0.997 1 1 0.9992 1 1 1 1 1 0.9988 1 0.52 T 0.0 B 0.0 B . . 0.000 P -0.345 N -1.3 T -0.959 T 0.000 T 0.211 1.908 12.34 5.36 1.275 2.539 15.616 1.908039 1.908039 0 0.997558 0.999773 NA 1 NA 8.3399754 826 2 21232803 21232803 T C exonic APOB NA nonsynonymous SNV APOB:NM_000384:exon26:c.A6937G:p.I2313V exonic ENSG00000084674 NA nonsynonymous SNV ENSG00000084674:ENST00000233242:exon26:c.A6937G:p.I2313V NA NA 2p24.1 Score=790;Name=V$CART1_01 Name=Pol2 NA NA rs584542 0.97 0.97 0.986 0.986222 0.999 0.998 0.9957 0.9523 1 0.97 1 0.98 0.94 0.995 1 0.57 T 0.002 B 0.003 B 0.262 N 1.000 P 1.1 L 5.78 T -0.985 T 0.000 T 0.067 -2.715 0 -3.8 -1.344 -0.205 5.845 -2.714744 NA 0.77 0.999419 0.946891 NA 0.565 NA 8.3399144 826 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$E47_01 NA NA NA rs1006459 0.45 0.45 0.443 0.454673 0.3221 0.2659 0.3386 0.9024 0.2628 0.31 0.28 0.38 0.89 0.3576 0.89 0.36 T 0.0 B 0.0 B 0.952 N 0.894 P 0.345 N -0.15 T -0.995 T 0.000 T 0.013 -0.01 3.961 0.213 -0.017 -0.783 5.039 -0.010297 NA 0.45 0.313953 0.804585 NA 0.42 NA 8.3396804 826 13 31480827 31480827 A G exonic MEDAG NA nonsynonymous SNV MEDAG:NM_032849:exon1:c.A175G:p.R59G exonic ENSG00000102802 NA nonsynonymous SNV ENSG00000102802:ENST00000380482:exon1:c.A175G:p.R59G NA NA 13q12.3 Score=778;Name=V$STAT5A_02 NA Name=9 NA rs9531945 0.97 0.97 0.99 0.976438 1 1 0.9957 0.913 1 1 0.99 1 0.89 0.9943 1 1 T 0.0 B 0.0 B 0.008 N 1.000 P -0.55 N 1.04 T -0.944 T 0.000 T 0.125 -2.044 0.006 3.15 0.132 2.086 6.533 -2.044123 NA 1 0.999399 0.939088 NA 0.21 NA 8.3396344 826 12 120575549 120575549 A C exonic GCN1L1 NA nonsynonymous SNV GCN1L1:NM_006836:exon49:c.T6463G:p.Y2155D exonic ENSG00000089154 NA nonsynonymous SNV ENSG00000089154:ENST00000300648:exon49:c.T6463G:p.Y2155D Score=571;Name=lod=280 NA 12q24.23 NA NA NA NA rs3864938 1 1 1 0.999401 0.998 1 0.9986 1 1 1 1 1 0.99 0.9987 1 0.41 T 0.0 B 0.0 B 0.000 N 0.980 P -1.935 N -0.16 T -0.937 T 0.000 T 0.34 -0.816 0.635 5.37 1.266 4.492 15.645 -0.815771 NA 1 0.99705 0.999297 NA 0.993 NA 8.3395834 826 9 117188566 117188566 C T exonic DFNB31 NA nonsynonymous SNV DFNB31:NM_001173425:exon4:c.G1091A:p.R364H,DFNB31:NM_015404:exon4:c.G1091A:p.R364H exonic ENSG00000095397 NA nonsynonymous SNV ENSG00000095397:ENST00000362057:exon4:c.G1091A:p.R364H Score=518;Name=lod=170 NA 9q32 NA NA NA NA rs10817610 0.99 0.99 0.982 0.977236 1 1 0.9942 0.9168 1 1 1 0.99 0.94 0.9942 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.36 N 2.33 T -0.979 T 0.000 T 0.362 0.681 7.639 3.88 0.265 4.782 9.624 0.680538 NA 1 0.999884 0.943032 NA 0.964 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038858.1;CLNDSDB=.;CLNDSDBID=. 8.3392494 826 12 4736495 4736495 C T exonic AKAP3 NA nonsynonymous SNV AKAP3:NM_006422:exon4:c.G1573A:p.E525K exonic ENSG00000111254 NA nonsynonymous SNV ENSG00000111254:ENST00000228850:exon4:c.G1573A:p.E525K,ENSG00000111254:ENST00000545990:exon5:c.G1573A:p.E525K Score=428;Name=lod=73 NA 12p13.32 NA NA NA NA rs1990312 0.99 0.99 0.988 0.982827 1 1 0.9942 0.938 1 1 1 0.99 0.96 0.9942 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.425 N 3.59 T -0.985 T 0.000 T 0.151 -0.071 3.655 5.65 1.081 2.681 9.821 -0.070678 NA 1 0.999884 0.932365 NA 0.993 NA 8.3392494 826 7 135304273 135304273 G C exonic NUP205 NA nonsynonymous SNV NUP205:NM_015135:exon29:c.G4066C:p.E1356Q exonic ENSG00000155561 NA nonsynonymous SNV ENSG00000155561:ENST00000285968:exon29:c.G4066C:p.E1356Q Score=454;Name=lod=93 NA 7q33 NA NA NA NA rs7810767 0.99 0.99 0.987 0.980032 0.999 1 0.9942 0.9281 1 1 1 0.99 0.94 0.9954 1 0.53 T 0.0 B 0.001 B 0.000 N 0.000 P -0.6 N 1.6 T -0.962 T 0.000 T 0.029 -1.054 0.19 5.67 1.413 3.809 15.937 -1.054385 NA 0.62 0.999884 0.952565 NA 0.964 NA 8.3390494 826 11 66472274 66472274 T C exonic SPTBN2 NA nonsynonymous SNV SPTBN2:NM_006946:exon14:c.A2473G:p.S825G exonic ENSG00000173898 NA nonsynonymous SNV ENSG00000173898:ENST00000529997:exon13:c.A2473G:p.S825G,ENSG00000173898:ENST00000309996:exon14:c.A2473G:p.S825G,ENSG00000173898:ENST00000533211:exon15:c.A2473G:p.S825G Score=458;Name=lod=97 NA 11q13.2 NA NA NA NA rs4930388 0.99 0.99 0.992 0.987819 0.998 1 0.9899 0.9607 1 0.99 1 1 0.97 0.9969 1 0.46 T 0.0 B 0.0 B 0.000 N 0.999 P -0.9 N 0.67 T -0.961 T 0.000 T 0.065 0.632 7.397 4.97 1.327 2.017 12.604 0.631947 NA 1 0.999649 0.965644 NA 0.935 NA 8.3387844 826 9 33264540 33264540 C G exonic BAG1 NA nonsynonymous SNV BAG1:NM_004323:exon1:c.G133C:p.G45R exonic ENSG00000107262 NA nonsynonymous SNV ENSG00000107262:ENST00000472232:exon1:c.G133C:p.G45R NA NA 9p13.3 NA Name=E2F1,ETS1,CTCF,HA-E2F1,Pol2,Pol2(phosphoS2),CCNT2,PAX5-C20 NA NA rs1071545 0.98 0.98 0.987 0.979433 1 1 0.9942 0.9251 1 1 1 1 0.92 0.9951 1 0.91 T 0.0 B 0.0 B 0.939 N 0.999 P 0 N . . -0.960 T 0.000 T 0.114 0.263 5.424 3.62 1.113 0.985 9.290 0.263435 NA 0.88 0.999468 0.949387 NA 0.442 NA 8.3387654 826 5 89769728 89769728 T C exonic MBLAC2 NA nonsynonymous SNV MBLAC2:NM_203406:exon1:c.A382G:p.T128A exonic ENSG00000176055 NA nonsynonymous SNV ENSG00000176055:ENST00000316610:exon1:c.A382G:p.T128A,ENSG00000176055:ENST00000514906:exon1:c.A382G:p.T128A Score=710;Name=lod=1024 NA 5q14.3 NA Name=Max,c-Myc,Ini1,E2F6_(H-50),E2F6,Pol2,ELF1_(SC-631) NA NA rs2162986 0.98 0.98 0.987 0.984026 1 0.9216 1 0.9992 1 0.99 0.93 1 1 0.9948 1 0.64 T 0.0 B 0.0 B 0.001 N 0.000 P -1.27 N 1.03 T -0.959 T 0.000 T 0.067 1.693 11.62 4.47 0.635 1.332 8.176 1.692901 1.692901 1 1 0.999543 NA 0.986 NA 8.3385334 826 11 134182375 134182375 G A exonic GLB1L3 NA nonsynonymous SNV GLB1L3:NM_001080407:exon14:c.G1420A:p.V474M exonic ENSG00000166105 NA nonsynonymous SNV ENSG00000166105:ENST00000431683:exon14:c.G1420A:p.V474M NA NA 11q25 NA NA NA NA rs2509062 1 1 0.999 0.998403 0.997 0.996 0.9986 1 1 1 0.99 1 1 0.9982 1 0.08 T 0.002 B 0.001 B 0.439 N 1.000 P 0.205 N -3.12 D -0.943 T 0.000 T 0.398 1.39 10.58 -8.0 -1.719 -2.064 4.747 1.390254 1.390254 0.04 0.999646 1 NA 1 NA 8.3384874 826 1 90178743 90178743 A G exonic LRRC8C NA nonsynonymous SNV LRRC8C:NM_032270:exon3:c.A614G:p.D205G exonic ENSG00000171488 NA nonsynonymous SNV ENSG00000171488:ENST00000370454:exon3:c.A614G:p.D205G Score=490;Name=lod=131 NA 1p22.2 NA NA NA NA rs474536 0.99 0.99 0.993 0.986022 1 1 0.9899 0.9523 1 1 1 0.99 0.97 0.9952 1 0.56 T 0.0 B 0.0 B 0.000 N 1.000 P -1.525 N 1.88 T -0.990 T 0.007 T 0.244 0.951 8.877 4.84 1.526 3.262 14.015 0.950757 NA 0.74 0.999651 0.953926 NA 0.993 NA 8.3384824 826 11 63258416 63258416 T C exonic HRASLS5 NA nonsynonymous SNV HRASLS5:NM_001146728:exon1:c.A91G:p.S31G,HRASLS5:NM_001146729:exon1:c.A91G:p.S31G,HRASLS5:NM_054108:exon1:c.A91G:p.S31G exonic ENSG00000168004 NA nonsynonymous SNV ENSG00000168004:ENST00000301790:exon1:c.A91G:p.S31G,ENSG00000168004:ENST00000394615:exon1:c.A22G:p.S8G,ENSG00000168004:ENST00000539221:exon1:c.A91G:p.S31G,ENSG00000168004:ENST00000540857:exon1:c.A91G:p.S31G NA NA 11q12.3 NA NA Name=34 NA rs10897424 0.98 0.98 NA 0.984225 1 1 0.9914 0.9448 1 1 1 0.99 0.92 0.9959 1 . . 0.0 B 0.0 B . . 1.000 P 0.805 L 1.82 T -1.055 T 0.000 T 0.083 -0.385 2.194 -5.14 -1.830 -1.440 5.772 -0.38457 NA 0.94 0.999301 0.954028 NA 0.804 NA 8.3381324 826 16 81209234 81209234 C T exonic PKD1L2 NA synonymous SNV PKD1L2:NM_001076780:exon15:c.G2559A:p.T853T exonic ENSG00000166473,ENSG00000269323 NA synonymous SNV ENSG00000166473:ENST00000527937:exon3:c.G327A:p.T109T,ENSG00000166473:ENST00000531391:exon4:c.G504A:p.T168T,ENSG00000166473:ENST00000337114:exon15:c.G2559A:p.T853T,ENSG00000269323:ENST00000599697:exon15:c.G2559A:p.T853T NA NA 16q23.2 NA Name=MafK_(ab50322),MafF_(M8194),MafK_(SC-477),JunD Name=85 NA rs935933 0.19 0.19 0.185 0.200679 0.0964 0.3075 0.196 0.2368 0.1524 0.09 0.29 0.17 0.23 0.1388 0.29 . . . . . . . . 1.000 P . . . . -1.001 T 0.000 T . -1.029 0.221 0.137 -0.300 -0.049 8.993 -1.028937 NA NA 0.093571 0.204446 NA 0.21 NA 8.3378956 826 1 223900408 223900408 C G exonic CAPN2 NA nonsynonymous SNV CAPN2:NM_001748:exon1:c.C66G:p.D22E exonic ENSG00000162909 NA nonsynonymous SNV ENSG00000162909:ENST00000295006:exon1:c.C66G:p.D22E NA NA 1q41 NA Name=Pol2,HA-E2F1,GATA-1,YY1_(C-20),Sin3Ak-20 Name=33 NA rs25655 0.99 0.99 1 0.98742 1 1 0.9971 0.9539 1 1 1 1 0.96 0.9959 1 1 T 0.0 B 0.0 B 0.869 N 0.969 P -0.72 N -4.24 D -0.952 T 0.000 T 0.044 -0.361 2.298 2.09 0.227 -0.178 9.821 -0.360853 NA 1 0.999767 0.954483 NA NA NA 8.3376664 826 7 76144455 76144455 A C exonic UPK3B NA nonsynonymous SNV UPK3B:NM_182684:exon6:c.A765C:p.R255S exonic ENSG00000243566 NA nonsynonymous SNV ENSG00000243566:ENST00000334348:exon6:c.A765C:p.R255S,ENSG00000243566:ENST00000443097:exon6:c.A765C:p.R255S NA NA 7q11.23 Score=766;Name=V$PAX5_01 NA NA NA rs1799125 0.99 0.99 0.993 0.989617 1 1 1 0.9607 1 1 1 1 0.96 0.9962 1 1 T 0.0 B 0.0 B 0.020 N 0.994 P . . 0.69 T -0.959 T 0.000 T . -2.288 0.004 -6.95 -2.614 -3.295 11.172 -2.288186 NA 1 1 0.961276 NA 0.978 NA 8.3371334 826 8 40011079 40011079 G A exonic C8orf4 NA nonsynonymous SNV C8orf4:NM_020130:exon1:c.G28A:p.V10I exonic ENSG00000176907 NA nonsynonymous SNV ENSG00000176907:ENST00000315792:exon1:c.G28A:p.V10I NA NA 8p11.21 NA Name=USF2,Pol2,Pol2(phosphoS2),HEY1,c-Jun,TAF1,Sin3Ak-20,JunD,GTF2F1_(RAP-74),Pol2(b),TBP Name=112 NA rs6474226 0.99 0.99 0.992 0.986621 1 1 1 0.9493 1 1 1 1 0.98 0.9968 1 0.63 T 0.0 B 0.0 B 0.023 N 1.000 P 0 N 1.57 T -0.910 T 0.000 T 0.033 0.994 9.059 -12.2 -2.223 -1.829 3.026 0.993911 NA 0.62 0.999767 0.967771 NA 0.986 NA 8.3367664 826 11 20529886 20529886 G A exonic PRMT3 NA nonsynonymous SNV PRMT3:NM_001145166:exon14:c.G1337A:p.S446N,PRMT3:NM_001145167:exon15:c.G1292A:p.S431N,PRMT3:NM_005788:exon16:c.G1523A:p.S508N exonic ENSG00000185238 NA nonsynonymous SNV ENSG00000185238:ENST00000437750:exon14:c.G1337A:p.S446N,ENSG00000185238:ENST00000331079:exon16:c.G1523A:p.S508N Score=533;Name=lod=195 NA 11p15.1 NA NA NA NA rs6483700 0.99 0.99 0.993 0.991414 1 0.9573 1 1 1 1 0.96 1 1 0.9967 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.115 N 0.27 T -0.945 T 0.000 T 0.174 0.284 5.537 5.67 0.978 3.897 8.622 0.283906 NA 1 1 0.999546 NA 0.986 NA 8.3366334 826 2 178936614 178936614 C T exonic PDE11A NA nonsynonymous SNV PDE11A:NM_016953:exon1:c.G551A:p.R184Q exonic ENSG00000128655 NA nonsynonymous SNV ENSG00000128655:ENST00000286063:exon1:c.G551A:p.R184Q Score=641;Name=lod=539 NA 2q31.2 Score=952;Name=V$GATA2_01 NA NA NA rs6433711 0.99 0.99 0.986 0.990216 0.999 0.999 0.9942 0.9675 1 1 1 1 0.97 0.998 1 1 T 0.0 B 0.0 B 0.001 N 0.000 P -1.75 N -0.23 T -0.939 T 0.000 T 0.106 0.949 8.871 5.28 0.855 3.766 10.446 0.949318 NA 1 0.999884 0.978438 NA 0.957 NA 8.3364494 826 1 42048745 42048745 T C exonic HIVEP3 NA nonsynonymous SNV HIVEP3:NM_001127714:exon3:c.A1724G:p.H575R,HIVEP3:NM_024503:exon4:c.A1724G:p.H575R exonic ENSG00000127124 NA nonsynonymous SNV ENSG00000127124:ENST00000247584:exon3:c.A1724G:p.H575R,ENSG00000127124:ENST00000372584:exon3:c.A1724G:p.H575R,ENSG00000127124:ENST00000429157:exon3:c.A1724G:p.H575R,ENSG00000127124:ENST00000372583:exon4:c.A1724G:p.H575R Score=554;Name=lod=237 NA 1p34.2 NA Name=USF-1 NA NA rs2810566 0.99 0.99 0.991 0.988019 1 1 0.9957 0.9569 1 1 1 0.99 0.97 0.9969 1 1 T 0.0 B 0.0 B 0.002 N 1.000 P -1.7 N 3.57 T -1.012 T 0.000 T 0.059 -1.017 0.237 2.77 0.217 1.669 7.909 -1.016789 NA 1 1 0.96709 NA 0.92 NA 8.3364334 826 3 113373930 113373930 A G exonic KIAA2018 NA nonsynonymous SNV KIAA2018:NM_001009899:exon7:c.T6599C:p.V2200A exonic ENSG00000176542 NA nonsynonymous SNV ENSG00000176542:ENST00000478658:exon5:c.T6599C:p.V2200A,ENSG00000176542:ENST00000316407:exon7:c.T6599C:p.V2200A Score=664;Name=lod=663 NA 3q13.2 NA NA NA NA rs930818 1 1 1 0.999002 0.998 1 1 0.9977 1 1 1 1 1 0.9994 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -0.695 N 3.01 T -0.930 T 0.000 T 0.06 -0.924 0.39 5.57 1.366 6.080 14.725 -0.923827 NA 1 0.999519 0.995443 NA 1 NA 8.3364144 826 X 79943569 79943569 T C exonic BRWD3 NA nonsynonymous SNV BRWD3:NM_153252:exon34:c.A3863G:p.K1288R exonic ENSG00000165288 NA nonsynonymous SNV ENSG00000165288:ENST00000373275:exon34:c.A3863G:p.K1288R Score=528;Name=lod=186 NA Xq21.1 NA NA NA NA rs3122407 0.99 0.99 0.9841 NA NA NA NA NA NA 1 1 1 0.95 0.9972 1 . . 0.0 B 0.001 B 0.041 N 1.000 P -1.655 N 2.18 T -0.971 T 0.000 T 0.042 -0.359 2.307 4.11 1.102 0.170 9.325 -0.358762 NA 1 1 0.973142 NA 0.717 NA 8.3361334 826 10 135165790 135165790 A G exonic PRAP1 NA nonsynonymous SNV PRAP1:NM_001145201:exon5:c.A275G:p.H92R,PRAP1:NM_145202:exon5:c.A302G:p.H101R exonic ENSG00000165828,ENSG00000198546 NA nonsynonymous SNV ENSG00000165828:ENST00000423766:exon5:c.A305G:p.H102R,ENSG00000165828:ENST00000433452:exon5:c.A302G:p.H101R,ENSG00000165828:ENST00000458230:exon5:c.A275G:p.H92R,ENSG00000198546:ENST00000368554:exon8:c.A779G:p.H260R NA NA 10q26.3 Score=681;Name=V$PPARG_02 NA NA NA rs4369319 0.99 0.99 0.987 0.992013 1 1 0.9971 0.9713 1 1 1 1 0.97 0.9973 1 1 T 0.0 B 0.0 B 0.047 N 1.000 P 0.895 L 1.67 T -0.964 T 0.000 T 0.022 -0.941 0.359 -5.74 -2.364 -3.928 6.329 -0.940685 NA 1 1 0.969133 NA 0.971 NA 8.3360334 826 1 11884555 11884555 A G exonic CLCN6 NA nonsynonymous SNV CLCN6:NM_001256959:exon7:c.A527G:p.E176G,CLCN6:NM_001286:exon8:c.A593G:p.E198G exonic ENSG00000011021 NA nonsynonymous SNV ENSG00000011021:ENST00000376487:exon7:c.A527G:p.E176G,ENSG00000011021:ENST00000312413:exon8:c.A593G:p.E198G,ENSG00000011021:ENST00000346436:exon8:c.A593G:p.E198G,ENSG00000011021:ENST00000376496:exon8:c.A593G:p.E198G Score=579;Name=lod=302 NA 1p36.22 NA NA NA NA rs198400 1 1 1 0.9998 0.999 1 1 1 1 1 1 1 1 0.9994 1 1 T 0.001 B 0.0 B 0.000 N 0.000 P -4.125 N 0.63 T -0.910 T 0.000 T 0.375 -0.023 3.894 5.79 1.462 7.663 14.207 -0.02339 NA 1 0.998953 0.999546 NA 1 NA 8.3359804 826 2 209184980 209184980 G A exonic PIKFYVE NA nonsynonymous SNV PIKFYVE:NM_015040:exon17:c.G2087A:p.S696N exonic ENSG00000115020 NA nonsynonymous SNV ENSG00000115020:ENST00000452564:exon16:c.G1919A:p.S640N,ENSG00000115020:ENST00000264380:exon17:c.G2087A:p.S696N Score=676;Name=lod=744 NA 2q34 NA NA NA NA rs10932258 0.99 0.99 0.991 0.991813 1 1 0.9986 0.9697 1 1 1 1 0.97 0.9977 1 0.82 T 0.0 B 0.0 B 0.000 N 0.000 P 0.85 L -1.23 T -0.941 T 0.000 T 0.053 0.393 6.132 5.83 1.034 7.531 12.040 0.392508 NA 1 0.999884 0.977077 NA 0.986 NA 8.3357494 826 4 126373789 126373789 G A exonic FAT4 NA nonsynonymous SNV FAT4:NM_024582:exon9:c.G11618A:p.S3873N exonic ENSG00000196159 NA nonsynonymous SNV ENSG00000196159:ENST00000335110:exon9:c.G6512A:p.S2171N,ENSG00000196159:ENST00000394329:exon9:c.G11618A:p.S3873N Score=468;Name=lod=106 NA 4q28.1 NA NA NA NA rs12650153 1 1 0.996 0.991014 1 1 1 0.966 1 1 1 1 0.98 0.9978 1 1 T 0.0 B 0.0 B 0.003 N 1.000 P -2.99 N -2.26 D -0.924 T 0.000 T 0.048 0.366 5.987 5.27 0.834 7.206 11.139 0.365974 NA 1 1 0.977758 NA 0.993 NA 8.3355334 826 3 52430698 52430698 A G exonic DNAH1 NA nonsynonymous SNV DNAH1:NM_015512:exon72:c.A11495G:p.H3832R exonic ENSG00000114841 NA nonsynonymous SNV ENSG00000114841:ENST00000490713:exon15:c.A2195G:p.H732R,ENSG00000114841:ENST00000420323:exon72:c.A11495G:p.H3832R Score=371;Name=lod=43 NA 3p21.1 NA NA NA NA rs365048 1 1 0.998 0.996406 1 1 0.9986 0.9871 1 1 1 1 0.99 0.9986 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.89 N 3.44 T -0.961 T 0.000 T 0.224 -0.646 1.152 4.49 1.124 3.480 12.774 -0.646347 NA 1 0.999283 0.987618 NA 0.964 NA 8.3354504 826 9 117166338 117166338 G C exonic DFNB31 NA nonsynonymous SNV DFNB31:NM_001083885:exon10:c.C1107G:p.H369Q,DFNB31:NM_001173425:exon10:c.C2253G:p.H751Q,DFNB31:NM_015404:exon10:c.C2256G:p.H752Q exonic ENSG00000095397 NA nonsynonymous SNV ENSG00000095397:ENST00000374059:exon6:c.C1203G:p.H401Q,ENSG00000095397:ENST00000265134:exon10:c.C1107G:p.H369Q,ENSG00000095397:ENST00000362057:exon10:c.C2256G:p.H752Q Score=503;Name=lod=148 NA 9q32 NA NA NA NA rs6478078 1 1 0.999 0.991014 1 1 0.9957 0.9682 1 1 1 1 0.99 0.998 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.255 N 4.55 T -0.994 T 0.000 T 0.298 -1.159 0.096 4.91 1.090 4.291 8.998 -1.158952 NA 1 1 0.980935 NA 0.978 NA 8.3353334 826 10 101544447 101544447 A T exonic ABCC2 NA nonsynonymous SNV ABCC2:NM_000392:exon2:c.A116T:p.Y39F exonic ENSG00000023839 NA nonsynonymous SNV ENSG00000023839:ENST00000370434:exon2:c.A116T:p.Y39F,ENSG00000023839:ENST00000370449:exon2:c.A116T:p.Y39F Score=582;Name=lod=310 NA 10q24.2 NA Name=Pol2 NA NA rs927344 1 1 0.997 0.994609 1 1 0.9971 0.9811 1 1 1 1 0.98 0.998 1 1 T 0.0 B 0.0 B 0.000 N 0.985 P -1.36 N 0.5 T -0.937 T 0.000 T 0.287 1.137 9.632 5.58 0.948 4.997 11.231 1.136597 NA 1 1 0.980708 NA 0.993 NA 8.3353334 826 19 51452250 51452250 T C exonic KLK5 NA nonsynonymous SNV KLK5:NM_001077492:exon4:c.A457G:p.N153D,KLK5:NM_012427:exon4:c.A457G:p.N153D,KLK5:NM_001077491:exon5:c.A457G:p.N153D exonic ENSG00000167754 NA nonsynonymous SNV ENSG00000167754:ENST00000336334:exon4:c.A457G:p.N153D,ENSG00000167754:ENST00000593428:exon4:c.A457G:p.N153D,ENSG00000167754:ENST00000594846:exon4:c.A457G:p.N153D,ENSG00000167754:ENST00000391809:exon5:c.A457G:p.N153D Score=463;Name=lod=102 NA 19q13.41 NA NA NA NA rs183854 1 1 1 0.9998 0.999 1 1 1 1 1 1 1 1 0.9994 1 1 T 0.0 B 0.0 B 0.004 N 0.773 P -2.98 N -1.09 T -0.948 T 0.000 T 0.285 -0.652 1.132 4.34 1.054 5.033 8.252 -0.651986 NA 1 0.999651 0.999773 NA 0.906 NA 8.3352824 826 11 20623156 20623156 C G exonic SLC6A5 NA nonsynonymous SNV SLC6A5:NM_004211:exon2:c.C485G:p.A162G exonic ENSG00000165970 NA nonsynonymous SNV ENSG00000165970:ENST00000298923:exon2:c.C485G:p.A162G,ENSG00000165970:ENST00000525748:exon2:c.C485G:p.A162G Score=646;Name=lod=564 NA 11p15.1 NA NA NA NA rs1443549 1 1 0.995 0.99361 1 1 1 0.9758 1 1 1 1 0.98 0.9983 1 1 T 0.0 B 0.0 B 0.070 N 0.998 P -0.975 N -0.5 T -0.929 T 0.000 T 0.093 0.909 8.699 5.59 1.380 7.389 15.447 0.909379 NA 1 0.999767 0.980481 NA 0.993 NA 8.3352664 826 5 112439941 112439941 T C exonic MCC NA nonsynonymous SNV MCC:NM_002387:exon5:c.A569G:p.K190R,MCC:NM_001085377:exon7:c.A1139G:p.K380R exonic ENSG00000171444 NA nonsynonymous SNV ENSG00000171444:ENST00000302475:exon5:c.A569G:p.K190R,ENSG00000171444:ENST00000515367:exon5:c.A380G:p.K127R,ENSG00000171444:ENST00000408903:exon7:c.A1139G:p.K380R Score=586;Name=lod=322 NA 5q22.2 NA NA NA NA rs6594681 1 1 0.994 0.994609 1 1 0.9986 0.9803 1 1 1 1 0.99 0.9981 1 0.64 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 2.58 T -0.963 T 0.000 T 0.337 1.089 9.443 5.26 1.234 4.553 14.089 1.088625 NA 1 1 0.980472 NA 0.993 NA 8.3352334 826 7 141747658 141747658 A G exonic MGAM NA nonsynonymous SNV MGAM:NM_004668:exon22:c.A2572G:p.N858D exonic ENSG00000257335 NA nonsynonymous SNV ENSG00000257335:ENST00000475668:exon22:c.A2572G:p.N858D,ENSG00000257335:ENST00000549489:exon22:c.A2572G:p.N858D Score=464;Name=lod=103 NA 7q34 NA NA NA NA rs2960746 1 1 0.993 0.994409 1 1 1 0.9788 1 1 1 1 0.98 0.9981 1 1 T 0.0 B 0.0 B 0.004 N 0.999 P -3.135 N -1.37 T -0.928 T 0.000 T 0.074 0.881 8.574 5.37 1.290 6.596 13.276 0.880822 NA 1 1 0.976768 NA 0.949 NA 8.3352334 826 12 64587633 64587633 C A exonic C12orf66 NA nonsynonymous SNV C12orf66:NM_152440:exon3:c.G1327T:p.A443S exonic ENSG00000174206 NA nonsynonymous SNV ENSG00000174206:ENST00000311915:exon3:c.G1327T:p.A443S,ENSG00000174206:ENST00000398055:exon3:c.G1327T:p.A443S,ENSG00000174206:ENST00000544871:exon3:c.G1168T:p.A390S Score=414;Name=lod=64 NA 12q14.2 NA NA NA NA rs699638 1 1 0.993 0.995807 1 1 0.9971 0.9856 1 1 1 1 0.98 0.9982 1 . . 0.0 B 0.0 B 0.000 N 0.999 P -1.78 N 1.99 T -0.951 T 0.000 T 0.143 -0.805 0.662 6.07 1.119 6.217 13.740 -0.805295 NA 1 1 0.97911 NA 1 NA 8.3351334 826 1 42898843 42898843 A G exonic ZMYND12 NA nonsynonymous SNV ZMYND12:NM_001146192:exon6:c.T616C:p.F206L,ZMYND12:NM_032257:exon7:c.T946C:p.F316L exonic ENSG00000066185 NA nonsynonymous SNV ENSG00000066185:ENST00000433602:exon6:c.T616C:p.F206L,ENSG00000066185:ENST00000372565:exon7:c.T946C:p.F316L Score=474;Name=lod=113 NA 1p34.2 NA NA NA NA rs1034268 0.63 0.63 0.585 0.649361 0.662 0.6508 0.5965 0.6021 0.7362 0.66 0.61 0.66 0.6 0.6636 0.67 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.365 N 2.0 T -0.916 T 0.000 T 0.143 0.445 6.418 4.8 0.776 1.876 7.992 0.445335 NA 1 0.672674 0.593736 NA 0.543 NA 8.3350594 826 3 39229900 39229900 T C exonic XIRP1 NA nonsynonymous SNV XIRP1:NM_001198621:exon2:c.A1037G:p.Q346R,XIRP1:NM_194293:exon2:c.A1037G:p.Q346R exonic ENSG00000168334 NA nonsynonymous SNV ENSG00000168334:ENST00000340369:exon2:c.A1037G:p.Q346R,ENSG00000168334:ENST00000396251:exon2:c.A1037G:p.Q346R Score=451;Name=lod=91 NA 3p22.2 Score=895;Name=V$TAL1ALPHAE47_01 NA NA NA rs6805248 0.99 0.99 0.994 0.993411 1 1 0.9971 0.9766 1 1 1 1 0.97 0.9983 1 0.86 T 0.0 B 0.0 B 0.018 N 0.024 P -0.695 N 4.17 T -0.988 T 0.000 T 0.058 -0.589 1.359 3.06 0.612 1.563 7.667 -0.589172 NA 0.97 1 0.984113 NA 0.993 NA 8.3350334 827 5 43509348 43509348 T A exonic C5orf34 NA nonsynonymous SNV C5orf34:NM_198566:exon2:c.A94T:p.T32S exonic ENSG00000172244 NA nonsynonymous SNV ENSG00000172244:ENST00000306862:exon2:c.A94T:p.T32S Score=594;Name=lod=345 NA 5p12 NA NA NA NA rs6872851 0.99 0.99 0.991 0.99401 1 1 0.9986 0.9781 1 1 1 1 0.97 0.9984 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.28 N 1.55 T -0.961 T 0.000 T 0.145 2.964 15.88 5.26 0.951 2.375 10.354 2.963604 2.963604 1 1 0.984113 NA 1 NA 8.3349334 827 9 131085373 131085373 G C exonic COQ4 NA nonsynonymous SNV COQ4:NM_016035:exon2:c.G149C:p.G50A exonic ENSG00000167113 NA nonsynonymous SNV ENSG00000167113:ENST00000300452:exon2:c.G149C:p.G50A,ENSG00000167113:ENST00000372875:exon2:c.G149C:p.G50A Score=454;Name=lod=93 NA 9q34.11 NA Name=HA-E2F1,E2F1,YY1 Name=58 NA rs3003601 1 1 0.998 0.998003 1 1 0.9986 0.9932 1 1 1 1 1 0.9988 1 0.77 T 0.001 B 0.004 B 0.252 N 1.000 P -1.27 N 1.13 T -1.009 T 0.000 T 0.079 0.446 6.423 -2.65 -0.582 0.037 8.331 0.446215 NA 0.43 0.99964 0.991932 NA 0.92 NA 8.3348934 827 3 129281980 129281980 C T exonic PLXND1 NA nonsynonymous SNV PLXND1:NM_015103:exon26:c.G4625A:p.S1542N exonic ENSG00000004399 NA nonsynonymous SNV ENSG00000004399:ENST00000324093:exon26:c.G4625A:p.S1542N,ENSG00000004399:ENST00000393239:exon26:c.G4625A:p.S1542N Score=503;Name=lod=148 NA 3q22.1 Score=863;Name=V$P300_01 NA NA NA rs2713625 1 1 1 0.9998 0.999 1 1 1 1 1 1 1 1 0.9999 1 0.64 T 0.0 B 0.0 B 0.000 N 0.000 P -0.195 N 2.9 T -0.971 T 0.000 T 0.148 0.133 4.717 4.09 0.332 4.266 9.644 0.133369 NA 1 0.999767 1 NA 0.899 NA 8.3346664 827 19 8645786 8645786 A C exonic ADAMTS10 NA nonsynonymous SNV ADAMTS10:NM_030957:exon26:c.T3303G:p.H1101Q exonic ENSG00000142303 NA nonsynonymous SNV ENSG00000142303:ENST00000595838:exon13:c.T1764G:p.H588Q,ENSG00000142303:ENST00000270328:exon25:c.T3303G:p.H1101Q,ENSG00000142303:ENST00000597188:exon26:c.T3303G:p.H1101Q Score=689;Name=lod=841 NA 19p13.2 NA Name=SMC3_(ab9263),CTCFL_(SC-98982),JunD,ELK4,ZBTB7A_(SC-34508),PAX5-C20,YY1_(C-20),Max,SP1,Oct-2,c-Myc,Rad21,ETS1,ELF1_(SC-631),ATF3,Znf143_(16618-1-AP),CTCF_(C-20),GABP,CTCF_(SC-5916),p300,TCF12,CTCF,POU2F2,GATA-2 Name=139 NA rs7252299 1 1 1 0.9998 0.999 1 1 1 1 1 1 1 1 0.9999 1 1 T 0.001 B 0.004 B 0.000 N 1.000 P -0.895 N 1.1 T -0.958 T 0.000 T 0.053 0.496 6.689 -2.4 -0.925 0.203 0.453 0.495737 NA 1 0.999767 1 NA 1 NA 8.3346664 827 19 47177913 47177913 A G exonic PRKD2 NA nonsynonymous SNV PRKD2:NM_001079882:exon17:c.T2033C:p.V678A,PRKD2:NM_016457:exon18:c.T2504C:p.V835A,PRKD2:NM_001079880:exon19:c.T2504C:p.V835A,PRKD2:NM_001079881:exon19:c.T2504C:p.V835A exonic ENSG00000105287 NA nonsynonymous SNV ENSG00000105287:ENST00000600194:exon17:c.T2033C:p.V678A,ENSG00000105287:ENST00000291281:exon18:c.T2504C:p.V835A,ENSG00000105287:ENST00000433867:exon19:c.T2504C:p.V835A,ENSG00000105287:ENST00000595515:exon19:c.T2534C:p.V845A,ENSG00000105287:ENST00000601806:exon19:c.T2033C:p.V678A Score=578;Name=lod=298 NA 19q13.32 NA NA NA NA rs314665 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9996 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.27 N -0.0 T -0.939 T 0.000 T 0.092 0.574 7.102 4.79 1.157 3.958 12.492 0.574203 NA 1 0.99907 0.999092 NA 1 NA 8.3346634 827 8 25234858 25234858 A G exonic DOCK5 NA nonsynonymous SNV DOCK5:NM_024940:exon38:c.A3854G:p.K1285R exonic ENSG00000147459 NA nonsynonymous SNV ENSG00000147459:ENST00000276440:exon38:c.A3854G:p.K1285R Score=493;Name=lod=135 NA 8p21.2 NA NA NA NA rs2659585 1 1 0.997 0.997005 1 1 1 0.9887 1 1 1 1 0.99 0.9987 1 0.91 T 0.0 B 0.0 B 0.000 N 0.000 P -1.625 N 4.7 T -0.966 T 0.000 T 0.019 1.073 9.383 5.47 1.334 4.781 14.507 1.07345 NA 1 1 0.983659 NA 0.993 NA 8.3346334 827 15 48443699 48443699 T C exonic MYEF2 NA nonsynonymous SNV MYEF2:NM_016132:exon13:c.A1277G:p.Q426R exonic ENSG00000104177 NA nonsynonymous SNV ENSG00000104177:ENST00000267836:exon13:c.A1277G:p.Q426R,ENSG00000104177:ENST00000324324:exon13:c.A1277G:p.Q426R Score=630;Name=lod=486 NA 15q21.1 NA NA NA NA rs2470103 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9997 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.7 N 2.36 T -0.936 T 0.000 T 0.317 0.855 8.46 5.81 1.485 4.120 15.156 0.855014 NA 1 0.999185 1 NA 1 NA 8.3344484 827 6 133070995 133070995 G T exonic VNN2 NA nonsynonymous SNV VNN2:NM_001242350:exon4:c.C547A:p.L183M,VNN2:NM_004665:exon6:c.C1210A:p.L404M,VNN2:NM_078488:exon7:c.C1051A:p.L351M exonic ENSG00000112303 NA nonsynonymous SNV ENSG00000112303:ENST00000528801:exon3:c.C354A:p.H118Q,ENSG00000112303:ENST00000525289:exon4:c.C547A:p.L183M,ENSG00000112303:ENST00000326499:exon6:c.C1210A:p.L404M,ENSG00000112303:ENST00000525270:exon7:c.C1051A:p.L351M NA NA 6q23.2 NA NA NA NA rs4895944 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9997 1 0.11 T 0.038 B 0.079 B 0.023 N 1.000 P 1.97 M -3.91 D -0.733 T 0.563 D 0.212 3.193 16.69 -10.4 -1.426 -0.300 6.795 3.192999 3.192999 0.08 0.999186 1 NA 0.993 NA 8.3344474 827 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=Triglycerides,LDL cholesterol,Cholesterol, total 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 827 11 9052423 9052423 A C exonic SCUBE2 NA nonsynonymous SNV SCUBE2:NM_001170690:exon14:c.T1758G:p.H586Q,SCUBE2:NM_020974:exon17:c.T2052G:p.H684Q exonic ENSG00000175356 NA nonsynonymous SNV ENSG00000175356:ENST00000450649:exon14:c.T1758G:p.H586Q,ENSG00000175356:ENST00000309263:exon17:c.T2136G:p.H712Q,ENSG00000175356:ENST00000520467:exon17:c.T2052G:p.H684Q,ENSG00000175356:ENST00000457346:exon18:c.T2223G:p.H741Q Score=563;Name=lod=259 NA 11p15.4 NA NA Name=13 NA rs7395988 1 1 0.997 0.997005 1 1 0.9986 0.9894 1 1 1 1 0.99 0.9993 1 1 T 0.0 B 0.0 B 0.003 N 1.000 P . . 2.47 T -0.933 T 0.000 T 0.063 0.096 4.519 4.47 1.300 0.308 5.100 0.096252 NA 0.84 0.999884 0.993185 NA 1 NA 8.3341494 827 2 26667615 26667615 T C exonic DRC1 NA nonsynonymous SNV DRC1:NM_145038:exon10:c.T1195C:p.W399R exonic ENSG00000157856 NA nonsynonymous SNV ENSG00000157856:ENST00000288710:exon10:c.T1195C:p.W399R Score=507;Name=lod=154 NA 2p23.3 NA NA NA NA rs939820 1 1 1 0.999201 1 1 1 0.997 1 1 1 1 1 0.9993 1 0.71 T 0.0 B 0.0 B 0.059 N 1.000 P -2.125 N 2.77 T -0.962 T 0.000 T 0.033 -1.482 0.018 5.51 1.338 1.540 9.258 -1.481789 NA 1 1 0.994099 NA 0.993 NA 8.3340334 827 11 34152939 34152939 T C exonic NAT10 NA nonsynonymous SNV NAT10:NM_001144030:exon12:c.T1165C:p.Y389H,NAT10:NM_024662:exon14:c.T1381C:p.Y461H exonic ENSG00000135372 NA nonsynonymous SNV ENSG00000135372:ENST00000531159:exon12:c.T1165C:p.Y389H,ENSG00000135372:ENST00000257829:exon14:c.T1381C:p.Y461H Score=343;Name=lod=33 NA 11p13 NA NA NA NA rs2957516 1 1 1 0.997804 1 1 1 0.9917 1 1 1 1 1 0.9993 1 0.49 T 0.0 B 0.0 B 0.000 N 0.000 P -1.715 N 1.03 T -0.945 T 0.000 T 0.262 1.524 11.05 5.76 1.593 6.058 15.380 1.523834 1.523834 0.68 1 0.992507 NA 1 NA 8.3340334 827 16 3406387 3406387 C G exonic OR2C1 NA nonsynonymous SNV OR2C1:NM_012368:exon1:c.C447G:p.C149W exonic ENSG00000168158 NA nonsynonymous SNV ENSG00000168158:ENST00000304936:exon1:c.C447G:p.C149W Score=265;Name=lod=16 NA 16p13.3 NA Name=YY1,CTCF NA NA rs1218763 1 1 0.999 0.998003 1 1 0.9986 0.9932 1 1 1 1 0.99 0.9993 1 1 T 0.0 B 0.0 B 0.037 N 0.006 P -2.86 N 2.21 T -0.991 T 0.000 T 0.125 -2.113 0.006 3.67 0.580 1.333 9.491 -2.113307 NA 1 1 0.994083 NA 0.957 NA 8.3340334 827 1 247695612 247695612 G A exonic OR2C3 NA nonsynonymous SNV OR2C3:NM_198074:exon2:c.C202T:p.P68S exonic ENSG00000196242 NA nonsynonymous SNV ENSG00000196242:ENST00000366487:exon2:c.C202T:p.P68S Score=414;Name=lod=64 NA 1q44 NA Name=CTCF NA NA rs6657127 1 1 0.997 0.998403 1 1 0.9986 0.9947 1 1 1 0.99 0.99 0.9995 1 1 T 0.0 B 0.0 B 0.002 N 0.000 P -4.22 N 5.49 T -0.987 T 0.000 T 0.21 0.015 4.092 4.04 0.713 1.400 7.934 0.015156 NA 1 0.999884 0.994553 NA 0.993 NA 8.3339494 827 17 56544280 56544280 T G exonic HSF5 NA nonsynonymous SNV HSF5:NM_001080439:exon3:c.A986C:p.N329T exonic ENSG00000176160 NA nonsynonymous SNV ENSG00000176160:ENST00000323777:exon3:c.A986C:p.N329T Score=538;Name=lod=205 NA 17q22 NA NA NA NA rs1017089 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9998 1 1 T 0.0 B 0.0 B 0.001 N 1.000 P -0.695 N -0.5 T -0.933 T 0.000 T 0.025 0.58 7.131 5.81 1.476 3.237 13.576 0.579872 NA 1 0.999651 1 NA 1 NA 8.3338824 827 11 68560787 68560787 C T exonic CPT1A NA synonymous SNV CPT1A:NM_001031847:exon9:c.G963A:p.E321E,CPT1A:NM_001876:exon9:c.G963A:p.E321E exonic ENSG00000110090 NA synonymous SNV ENSG00000110090:ENST00000538994:exon4:c.G219A:p.E73E,ENSG00000110090:ENST00000539743:exon8:c.G963A:p.E321E,ENSG00000110090:ENST00000540367:exon8:c.G963A:p.E321E,ENSG00000110090:ENST00000265641:exon9:c.G963A:p.E321E,ENSG00000110090:ENST00000376618:exon9:c.G963A:p.E321E Score=473;Name=lod=112 NA 11q13.3 Score=952;Name=V$AREB6_01 NA NA NA rs2229737 0.07 0.07 0.064 0.0509185 0.1233 0.0198 0.0663 0.0318 0.0235 0.13 0.03 0.07 0.05 0.1036 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.121855 NA NA 0.105962 0.037955 NA 0.029 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000079919.1|RCV000124598.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.3338046 827 4 76794345 76794345 T G exonic PPEF2 NA nonsynonymous SNV PPEF2:NM_006239:exon12:c.A1441C:p.M481L exonic ENSG00000156194 NA nonsynonymous SNV ENSG00000156194:ENST00000286719:exon12:c.A1441C:p.M481L Score=340;Name=lod=32 NA 4q21.1 NA NA NA NA rs6858658 1 1 1 0.998802 1 1 0.9986 0.9962 1 1 1 1 1 0.9997 1 1 T 0.0 B 0.001 B 0.000 N 1.000 P -2.23 N -1.65 D -0.953 T 0.000 T 0.061 -1.454 0.019 3.63 0.668 3.044 6.916 -1.453548 NA 1 0.999884 0.997276 NA 1 NA 8.3337494 827 3 123451773 123451773 G C exonic MYLK NA nonsynonymous SNV MYLK:NM_053025:exon11:c.C1486G:p.L496V,MYLK:NM_053027:exon11:c.C1486G:p.L496V exonic ENSG00000065534 NA nonsynonymous SNV ENSG00000065534:ENST00000475616:exon8:c.C1486G:p.L496V,ENSG00000065534:ENST00000359169:exon11:c.C1486G:p.L496V,ENSG00000065534:ENST00000360304:exon11:c.C1486G:p.L496V,ENSG00000065534:ENST00000360772:exon12:c.C1486G:p.L496V Score=329;Name=lod=29 NA 3q21.1 NA NA NA NA rs9833275 1 1 1 0.999002 1 1 1 0.9962 1 1 1 1 1 0.9996 1 0.46 T 0.0 B 0.001 B . . 0.000 P -1.14 N -0.11 T -0.958 T 0.000 T 0.027 0.312 5.689 5.29 1.485 2.149 15.172 0.311724 NA 1 1 0.995915 NA 1 NA 8.3337334 827 19 16899838 16899838 A T exonic NWD1 NA nonsynonymous SNV NWD1:NM_001007525:exon13:c.A2777T:p.N926I exonic ENSG00000188039 NA nonsynonymous SNV ENSG00000188039:ENST00000339803:exon9:c.A2372T:p.N791I,ENSG00000188039:ENST00000379808:exon11:c.A2777T:p.N926I,ENSG00000188039:ENST00000552788:exon11:c.A2777T:p.N926I,ENSG00000188039:ENST00000523826:exon12:c.A2159T:p.N720I,ENSG00000188039:ENST00000549814:exon12:c.A2777T:p.N926I,ENSG00000188039:ENST00000524140:exon13:c.A2777T:p.N926I Score=313;Name=lod=25 NA 19p13.11 NA NA NA NA rs2608737 1 1 1 0.998203 1 0.9911 1 1 1 1 0.99 1 1 0.9996 1 0.65 T 0.0 B 0.0 B 0.012 N 1.000 P -2.51 N 0.41 T -0.942 T 0.000 T 0.118 -1.359 0.027 5.65 0.970 2.852 9.108 -1.359328 NA 0.57 1 0.999773 NA 1 NA 8.3337334 827 19 44377357 44377357 C T exonic ZNF404 NA nonsynonymous SNV ZNF404:NM_001033719:exon2:c.G1000A:p.G334S exonic ENSG00000176222 NA nonsynonymous SNV ENSG00000176222:ENST00000324394:exon2:c.G1003A:p.G335S,ENSG00000176222:ENST00000587539:exon3:c.G1009A:p.G337S NA NA 19q13.31 NA Name=ZNF274,KAP1,SETDB1 Name=6 NA rs239942 1 1 1 0.998602 1 0.994 0.9986 1 1 1 1 1 1 0.9996 1 1 T . . . . . . 1.000 P . . 1.32 T -0.956 T 0.000 T 0.327 -2.712 0 2.01 0.223 -0.029 2.094 -2.711938 NA 0.79 NA NA NA 1 NA 8.3337334 827 4 648643 648643 G A exonic PDE6B NA nonsynonymous SNV PDE6B:NM_001145292:exon4:c.G121A:p.V41I,PDE6B:NM_000283:exon6:c.G958A:p.V320I,PDE6B:NM_001145291:exon6:c.G958A:p.V320I exonic ENSG00000133256 NA nonsynonymous SNV ENSG00000133256:ENST00000429163:exon4:c.G121A:p.V41I,ENSG00000133256:ENST00000465426:exon4:c.G121A:p.V41I,ENSG00000133256:ENST00000487902:exon4:c.G121A:p.V41I,ENSG00000133256:ENST00000255622:exon6:c.G958A:p.V320I,ENSG00000133256:ENST00000496514:exon6:c.G958A:p.V320I Score=498;Name=lod=141 NA 4p16.3 Score=855;Name=V$CDP_02 NA NA NA rs10902758 1 1 0.999 0.999002 1 1 1 0.9962 1 1 1 1 1 0.9997 1 1 T 0.0 B 0.001 B 0.023 N 0.997 P -2.05 N 0.41 T -0.951 T 0.000 T 0.32 0.385 6.092 4.67 0.759 2.674 8.824 0.385172 NA 1 1 0.996823 NA 1 NA 8.3336334 827 5 138713959 138713959 A C exonic SLC23A1 NA nonsynonymous SNV SLC23A1:NM_005847:exon11:c.T1261G:p.S421A,SLC23A1:NM_152685:exon11:c.T1273G:p.S425A exonic ENSG00000170482 NA nonsynonymous SNV ENSG00000170482:ENST00000348729:exon11:c.T1261G:p.S421A,ENSG00000170482:ENST00000353963:exon11:c.T1273G:p.S425A Score=358;Name=lod=38 NA 5q31.2 NA NA NA NA rs6596474 1 1 1 0.999002 1 1 1 0.9962 1 1 1 1 1 0.9997 1 1 T 0.0 B 0.0 B 0.000 N 0.992 P -2.05 N 2.21 T -0.940 T 0.000 T 0.276 1.427 10.71 5.3 1.491 5.610 15.314 1.427491 1.427491 1 1 0.996589 NA 0.993 NA 8.3336334 827 7 100552018 100552018 T G intergenic ACHE,MUC12 dist=58477;dist=60886 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000319509:exon1:c.T769G:p.S257A NA NA 7q22.1 NA NA NA NA rs76249962 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4997 NA 0.48 T 0.0 B 0.0 B . . 1.000 N 0 N 3.26 T -0.963 T 0.009 T 0.045 -2.223 0.005 -2.02 -3.273 -3.404 3.66 -2.222524 NA 0.4 NA NA ID=COSM304009,COSM304010;OCCURENCE=1(central_nervous_system) NA NA 8.3336334 827 11 7670440 7670440 A G exonic PPFIBP2 NA nonsynonymous SNV PPFIBP2:NM_001256569:exon16:c.A1543G:p.R515G,PPFIBP2:NM_001256568:exon17:c.A1636G:p.R546G,PPFIBP2:NM_003621:exon20:c.A1972G:p.R658G exonic ENSG00000166387 NA nonsynonymous SNV ENSG00000166387:ENST00000530181:exon16:c.A1543G:p.R515G,ENSG00000166387:ENST00000528883:exon17:c.A1636G:p.R546G,ENSG00000166387:ENST00000533792:exon18:c.A1498G:p.R500G,ENSG00000166387:ENST00000299492:exon20:c.A1972G:p.R658G Score=639;Name=lod=526 NA 11p15.4 NA NA NA NA rs4758209 1 1 1 0.999401 1 1 1 0.9977 1 1 1 1 1 0.9997 1 1 T 0.0 B 0.0 B 0.000 N 0.979 P -3.155 N 1.3 T -0.953 T 0.000 T 0.445 0.975 8.979 5.3 1.379 7.981 12.304 0.974868 NA 1 1 0.995002 NA 1 NA 8.3336334 827 18 55317676 55317676 C T exonic ATP8B1 NA nonsynonymous SNV ATP8B1:NM_005603:exon27:c.G3454A:p.A1152T exonic ENSG00000081923 NA nonsynonymous SNV ENSG00000081923:ENST00000283684:exon26:c.G3454A:p.A1152T,ENSG00000081923:ENST00000536015:exon27:c.G3454A:p.A1152T Score=300;Name=lod=22 NA 18q21.31 Score=796;Name=V$CMYB_01 NA NA NA rs222581 1 1 1 0.9998 1 1 1 0.9992 1 1 1 1 1 0.9997 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.32 N 1.26 T -0.960 T 0.000 T 0.191 -1.023 0.228 4.34 0.926 2.010 5.832 -1.023423 NA NA 1 0.996369 NA 1 NA 8.3336334 827 X 30872602 30872602 A G exonic TAB3 NA nonsynonymous SNV TAB3:NM_152787:exon6:c.T1180C:p.W394R exonic ENSG00000157625 NA nonsynonymous SNV ENSG00000157625:ENST00000378930:exon2:c.T1180C:p.W394R,ENSG00000157625:ENST00000378933:exon3:c.T1180C:p.W394R,ENSG00000157625:ENST00000467136:exon5:c.T1180C:p.W394R,ENSG00000157625:ENST00000288422:exon7:c.T1180C:p.W394R,ENSG00000157625:ENST00000378932:exon7:c.T1180C:p.W394R Score=708;Name=lod=1006 NA Xp21.2 NA NA NA NA rs5927629 1 1 1 NA NA NA NA NA NA 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -0.805 N -0.33 T -0.940 T 0.000 T 0.144 1.594 11.28 3.8 0.470 2.152 7.001 1.593634 1.593634 1 0.999703 1 NA 0.746 NA 8.3336304 827 2 232087475 232087475 T A exonic ARMC9 NA nonsynonymous SNV ARMC9:NM_025139:exon6:c.T539A:p.I180K exonic ENSG00000135931 NA nonsynonymous SNV ENSG00000135931:ENST00000349938:exon6:c.T539A:p.I180K Score=412;Name=lod=63 NA 2q37.1 NA NA NA NA rs1626451 0.84 0.84 NA 1 1 1 1 1 1 0.84 0.89 0.88 0.76 0.9999 1 0.16 T 0.0 B 0.002 B 0.000 D 0.714 P -0.805 N 2.34 T -0.953 T 0.000 T 0.232 2.916 15.72 5.59 0.948 7.379 12.135 2.916195 2.916195 0.01 0.999884 0.999545 NA NA NA 8.3335494 827 21 34925142 34925142 C T exonic SON NA nonsynonymous SNV SON:NM_032195:exon3:c.C3605T:p.S1202L,SON:NM_138927:exon3:c.C3605T:p.S1202L exonic ENSG00000159140 NA nonsynonymous SNV ENSG00000159140:ENST00000290239:exon3:c.C3605T:p.S1202L,ENSG00000159140:ENST00000300278:exon3:c.C3605T:p.S1202L,ENSG00000159140:ENST00000356577:exon3:c.C3605T:p.S1202L,ENSG00000159140:ENST00000381679:exon3:c.C3605T:p.S1202L,ENSG00000159140:ENST00000455528:exon3:c.C3605T:p.S1202L Score=272;Name=lod=17 NA 21q22.11 NA Name=Pol2-4H8 NA NA rs13433428 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 0.6 T 0.0 B 0.0 B 0.004 N 0.000 P -1.15 N 3.27 T -0.964 T 0.000 T 0.269 -0.292 2.607 5.12 0.905 2.222 9.449 -0.291708 NA 0.86 0.999884 0.999773 NA 1 NA 8.3335494 827 22 29727886 29727886 T C exonic AP1B1 NA nonsynonymous SNV AP1B1:NM_001166019:exon17:c.A2248G:p.T750A,AP1B1:NM_145730:exon17:c.A2308G:p.T770A,AP1B1:NM_001127:exon18:c.A2329G:p.T777A exonic ENSG00000100280 NA nonsynonymous SNV ENSG00000100280:ENST00000402502:exon16:c.A2308G:p.T770A,ENSG00000100280:ENST00000415447:exon16:c.A2308G:p.T770A,ENSG00000100280:ENST00000317368:exon17:c.A2248G:p.T750A,ENSG00000100280:ENST00000356015:exon17:c.A2308G:p.T770A,ENSG00000100280:ENST00000405198:exon17:c.A2329G:p.T777A,ENSG00000100280:ENST00000432560:exon17:c.A2308G:p.T770A,ENSG00000100280:ENST00000357586:exon18:c.A2329G:p.T777A Score=513;Name=lod=162 NA 22q12.2 Score=797;Name=V$AHRARNT_02 NA NA NA rs2857465 1 1 1 0.9998 1 1 1 1 0.999 1 1 1 1 0.9999 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.82 N 0.96 T -0.938 T 0.000 T 0.074 -1.478 0.018 3.57 0.581 2.481 10.549 -1.477918 NA 1 0.999884 1 NA 1 NA 8.3335494 827 15 50474766 50474766 A C exonic SLC27A2 NA nonsynonymous SNV SLC27A2:NM_001159629:exon1:c.A142C:p.K48Q,SLC27A2:NM_003645:exon1:c.A142C:p.K48Q exonic ENSG00000140284 NA nonsynonymous SNV ENSG00000140284:ENST00000267842:exon1:c.A142C:p.K48Q,ENSG00000140284:ENST00000380902:exon1:c.A142C:p.K48Q NA NA 15q21.2 Score=892;Name=V$NRF2_01 Name=HA-E2F1 Name=75 NA rs1648348 0.65 0.65 0.593 0.613019 0.6501 0.8095 0.6326 0.3729 0.683 0.68 0.82 0.61 0.42 0.6847 0.82 0.43 T 0.0 B 0.002 B 0.072 N 1.000 P -0.08 N 0.29 T -0.924 T 0.000 T 0.028 -0.562 1.463 0.708 -0.049 0.034 13.747 -0.56199 NA 0.59 0.664995 0.425673 NA 0.377 NA 8.3335384 827 2 24108652 24108652 T C exonic ATAD2B NA nonsynonymous SNV ATAD2B:NM_001242338:exon5:c.A620G:p.Q207R,ATAD2B:NM_017552:exon5:c.A620G:p.Q207R exonic ENSG00000119778 NA nonsynonymous SNV ENSG00000119778:ENST00000238789:exon5:c.A620G:p.Q207R,ENSG00000119778:ENST00000439915:exon5:c.A620G:p.Q207R Score=613;Name=lod=414 NA 2p23.3 NA NA NA NA rs7579201 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9998 1 1 T 0.002 B 0.002 B . . 0.999 P -0.85 N 1.26 T -0.946 T 0.000 T 0.083 -0.004 3.992 4.94 1.239 3.641 12.243 -0.004302 NA 1 1 0.99842 NA 1 NA 8.3335334 827 2 242203916 242203916 A C exonic HDLBP NA nonsynonymous SNV HDLBP:NM_005336:exon4:c.T181G:p.S61A,HDLBP:NM_203346:exon4:c.T181G:p.S61A,HDLBP:NM_001243900:exon5:c.T289G:p.S97A exonic ENSG00000115677 NA nonsynonymous SNV ENSG00000115677:ENST00000422933:exon3:c.T181G:p.S61A,ENSG00000115677:ENST00000310931:exon4:c.T181G:p.S61A,ENSG00000115677:ENST00000391975:exon4:c.T181G:p.S61A,ENSG00000115677:ENST00000391976:exon4:c.T181G:p.S61A,ENSG00000115677:ENST00000425989:exon4:c.T181G:p.S61A,ENSG00000115677:ENST00000430918:exon4:c.T181G:p.S61A,ENSG00000115677:ENST00000442714:exon4:c.T181G:p.S61A,ENSG00000115677:ENST00000444092:exon4:c.T181G:p.S61A,ENSG00000115677:ENST00000413241:exon5:c.T181G:p.S61A,ENSG00000115677:ENST00000420451:exon5:c.T181G:p.S61A,ENSG00000115677:ENST00000423693:exon5:c.T181G:p.S61A,ENSG00000115677:ENST00000426343:exon5:c.T181G:p.S61A,ENSG00000115677:ENST00000427183:exon5:c.T289G:p.S97A,ENSG00000115677:ENST00000441124:exon5:c.T181G:p.S61A,ENSG00000115677:ENST00000452065:exon5:c.T181G:p.S61A,ENSG00000115677:ENST00000428482:exon6:c.T181G:p.S61A Score=449;Name=lod=89 NA 2q37.3 NA NA NA NA rs11891776 1 1 1 0.999601 1 1 1 0.9985 1 1 1 1 1 0.9998 1 1 T 0.0 B 0.0 B 0.003 N 1.000 P -0.115 N 2.39 T -0.920 T 0.000 T 0.182 -1.083 0.16 5.64 1.384 0.824 15.178 -1.082715 NA 1 NA NA NA 0.949 NA 8.3335334 827 1 151740666 151740666 T C exonic OAZ3 NA unknown UNKNOWN exonic ENSG00000143450 NA synonymous SNV ENSG00000143450:ENST00000582415:exon1:c.T22C:p.L8L,ENSG00000143450:ENST00000315067:exon4:c.T301C:p.L101L,ENSG00000143450:ENST00000321531:exon4:c.T301C:p.L101L,ENSG00000143450:ENST00000453029:exon4:c.T340C:p.L114L Score=415;Name=lod=65 NA 1q21.3 NA NA NA NA rs2495397 1 1 1 0.999601 1 1 1 0.9985 1 1 1 1 1 0.9998 1 . . . . . . 0.000 D 0.000 P . . . . -0.962 T 0.104 T . 2.556 14.51 5.27 0.963 1.732 9.558 2.555688 2.555688 0.77 1 0.998203 NA 1 NA 8.3335333 827 4 84376743 84376743 A T exonic HELQ NA nonsynonymous SNV HELQ:NM_133636:exon1:c.T104A:p.V35E exonic ENSG00000163312 NA nonsynonymous SNV ENSG00000163312:ENST00000295488:exon1:c.T104A:p.V35E,ENSG00000163312:ENST00000508591:exon1:c.T104A:p.V35E,ENSG00000163312:ENST00000510985:exon1:c.T104A:p.V35E NA NA 4q21.23 NA Name=TAF1,Pol2-4H8,Pol2,HA-E2F1,CTCF,YY1,SMC3_(ab9263),YY1_(C-20) Name=104 NA rs6831595 0.98 0.98 1 1 1 1 1 1 1 0.99 0.98 0.99 0.97 1 1 1 T 0.0 B 0.0 B 0.013 N 1.000 P -0.695 N 0.53 T -0.964 T 0.000 T 0.091 -0.315 2.502 -3.44 -0.807 -1.041 4.014 -0.315017 NA 0.79 0.999884 1 NA 0.775 NA 8.3334494 827 2 160136337 160136337 G A exonic WDSUB1 NA nonsynonymous SNV WDSUB1:NM_001128212:exon3:c.C518T:p.P173L,WDSUB1:NM_001128213:exon3:c.C518T:p.P173L,WDSUB1:NM_152528:exon3:c.C518T:p.P173L exonic ENSG00000196151 NA nonsynonymous SNV ENSG00000196151:ENST00000358147:exon3:c.C518T:p.P173L,ENSG00000196151:ENST00000359774:exon3:c.C518T:p.P173L,ENSG00000196151:ENST00000392796:exon3:c.C518T:p.P173L,ENSG00000196151:ENST00000409124:exon3:c.C518T:p.P173L,ENSG00000196151:ENST00000409990:exon3:c.C518T:p.P173L Score=656;Name=lod=619 NA 2q24.2 NA NA NA NA rs174264 1 1 1 0.9998 1 1 1 0.9992 1 1 1 1 1 0.9999 1 1 T 0.0 B 0.0 B 0.000 N 0.920 P -2.175 N 0.48 T -0.939 T 0.000 T 0.434 0.907 8.689 5.79 1.013 6.844 11.978 0.906931 NA 1 1 0.999773 NA 0.971 NA 8.3334334 827 9 139913239 139913239 T G exonic ABCA2 NA nonsynonymous SNV ABCA2:NM_001606:exon13:c.A1751C:p.H584P,ABCA2:NM_212533:exon13:c.A1841C:p.H614P exonic ENSG00000107331 NA nonsynonymous SNV ENSG00000107331:ENST00000371605:exon12:c.A1748C:p.H583P,ENSG00000107331:ENST00000459850:exon12:c.A1838C:p.H613P,ENSG00000107331:ENST00000487109:exon12:c.A1838C:p.H613P,ENSG00000107331:ENST00000265662:exon13:c.A1751C:p.H584P,ENSG00000107331:ENST00000341511:exon13:c.A1751C:p.H584P Score=539;Name=lod=206 NA 9q34.3 NA NA NA NA rs908828 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 1 T 0.0 B 0.0 B 0.487 N 0.371 P -2.015 N -2.01 D -0.936 T 0.000 T 0.44 0.022 4.128 4.31 0.807 7.529 13.564 0.022021 NA 1 1 0.999757 NA 0.819 NA 8.3334334 827 10 5255025 5255025 A G exonic AKR1C4 NA nonsynonymous SNV AKR1C4:NM_001818:exon7:c.A749G:p.Q250R exonic ENSG00000198610 NA nonsynonymous SNV ENSG00000198610:ENST00000263126:exon7:c.A749G:p.Q250R,ENSG00000198610:ENST00000380448:exon9:c.A749G:p.Q250R Score=417;Name=lod=66 NA 10p15.1 NA Name=Pol2 NA NA rs4880718 1 1 1 0.9998 1 1 1 0.9992 1 1 1 1 1 0.9999 1 0.72 T 0.0 B 0.001 B 0.362 N 1.000 P -2.135 N 1.93 T -1.024 T 0.000 T 0.069 -2.358 0.004 -1.26 -1.477 0.242 5.004 -2.358146 NA 0.83 NA NA NA 1 NA 8.3334334 827 11 65347636 65347636 G C exonic EHBP1L1 NA nonsynonymous SNV EHBP1L1:NM_001099409:exon5:c.G397C:p.V133L exonic ENSG00000173442 NA nonsynonymous SNV ENSG00000173442:ENST00000309295:exon5:c.G397C:p.V133L,ENSG00000173442:ENST00000533237:exon5:c.G397C:p.V133L Score=471;Name=lod=109 NA 11q13.1 Score=764;Name=V$PAX5_02 Name=c-Myc NA NA rs1194100 1 1 1 0.9998 1 1 1 0.9992 1 1 1 1 0.99 0.9999 1 1 T 0.0 B 0.006 B 0.003 N 0.000 P -0.695 N 0.93 T -0.942 T 0.000 T 0.073 -0.749 0.819 4.39 0.600 0.367 6.858 -0.749226 NA 1 1 0.998142 NA 0.978 NA 8.3334334 827 11 108380335 108380335 T C exonic EXPH5 NA nonsynonymous SNV EXPH5:NM_015065:exon6:c.A5899G:p.N1967D exonic ENSG00000110723 NA nonsynonymous SNV ENSG00000110723:ENST00000443411:exon3:c.A5335G:p.N1779D,ENSG00000110723:ENST00000265843:exon6:c.A5899G:p.N1967D,ENSG00000110723:ENST00000428840:exon6:c.A5671G:p.N1891D,ENSG00000110723:ENST00000525344:exon7:c.A5878G:p.N1960D Score=309;Name=lod=24 NA 11q22.3 NA NA NA NA rs1943382 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 1 T 0.0 B 0.0 B 0.001 N 1.000 P -2.125 N 1.4 T -0.935 T 0.000 T 0.148 0.586 7.161 5.8 1.469 3.806 15.134 0.585699 NA 1 1 0.998183 NA 1 NA 8.3334334 827 16 22269867 22269867 A G exonic EEF2K NA nonsynonymous SNV EEF2K:NM_013302:exon10:c.A1082G:p.Q361R exonic ENSG00000103319 NA nonsynonymous SNV ENSG00000103319:ENST00000263026:exon10:c.A1082G:p.Q361R,ENSG00000103319:ENST00000568269:exon10:c.A1082G:p.Q361R Score=573;Name=lod=285 NA 16p12.2 Score=852;Name=V$SRF_Q6 NA NA NA rs4783453 1 1 0.999 0.999601 1 1 1 0.9985 1 1 1 1 1 0.9999 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.04 N 1.58 T -0.945 T 0.000 T 0.234 0.219 5.182 3.78 0.339 4.685 9.926 0.219062 NA 1 1 0.999545 NA 1 NA 8.3334334 827 2 100343557 100343557 C T exonic AFF3 NA nonsynonymous SNV AFF3:NM_001025108:exon10:c.G1148A:p.S383N,AFF3:NM_002285:exon10:c.G1073A:p.S358N exonic ENSG00000144218 NA nonsynonymous SNV ENSG00000144218:ENST00000409236:exon9:c.G1073A:p.S358N,ENSG00000144218:ENST00000317233:exon10:c.G1073A:p.S358N,ENSG00000144218:ENST00000356421:exon10:c.G1148A:p.S383N,ENSG00000144218:ENST00000409579:exon11:c.G1148A:p.S383N Score=544;Name=lod=217 NA 2q11.2 NA NA NA NA rs4851223 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.004 N 1.000 P -0.52 N 0.01 T -0.926 T 0.000 T 0.075 -0.036 3.828 5.26 0.844 3.279 9.846 -0.036363 NA 1 NA NA NA 1 NA 8.3333334 827 2 216272900 216272900 T G exonic FN1 NA nonsynonymous SNV FN1:NM_002026:exon17:c.A2449C:p.T817P,FN1:NM_212474:exon17:c.A2449C:p.T817P,FN1:NM_212476:exon17:c.A2449C:p.T817P,FN1:NM_212478:exon17:c.A2449C:p.T817P,FN1:NM_212482:exon17:c.A2449C:p.T817P exonic ENSG00000115414 NA nonsynonymous SNV ENSG00000115414:ENST00000323926:exon17:c.A2449C:p.T817P,ENSG00000115414:ENST00000336916:exon17:c.A2449C:p.T817P,ENSG00000115414:ENST00000345488:exon17:c.A2449C:p.T817P,ENSG00000115414:ENST00000346544:exon17:c.A2449C:p.T817P,ENSG00000115414:ENST00000354785:exon17:c.A2449C:p.T817P,ENSG00000115414:ENST00000356005:exon17:c.A2449C:p.T817P,ENSG00000115414:ENST00000357009:exon17:c.A2449C:p.T817P,ENSG00000115414:ENST00000357867:exon17:c.A2449C:p.T817P,ENSG00000115414:ENST00000359671:exon17:c.A2449C:p.T817P,ENSG00000115414:ENST00000421182:exon17:c.A2449C:p.T817P,ENSG00000115414:ENST00000432072:exon17:c.A2449C:p.T817P,ENSG00000115414:ENST00000443816:exon17:c.A2449C:p.T817P,ENSG00000115414:ENST00000446046:exon17:c.A2449C:p.T817P Score=251;Name=lod=14 NA 2q35 NA NA NA NA rs2577301 1 1 0.999 0.9998 1 1 1 0.9992 1 1 1 1 1 1 1 0.06 T 0.0 B 0.001 B 0.000 N 0.000 P 0.345 N 0.51 T -0.957 T 0.000 T 0.171 2.032 12.75 5.93 1.534 4.979 16.742 2.031761 2.031761 0.17 1 0.999773 NA 1 NA 8.3333334 827 5 149585025 149585025 A C exonic SLC6A7 NA nonsynonymous SNV SLC6A7:NM_014228:exon13:c.A1540C:p.M514L exonic ENSG00000011083 NA nonsynonymous SNV ENSG00000011083:ENST00000230671:exon13:c.A1540C:p.M514L,ENSG00000011083:ENST00000524041:exon13:c.A1540C:p.M514L Score=512;Name=lod=160 NA 5q32 NA NA NA NA rs4705426 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 -2.48 N -0.48 T -0.940 T 0.000 T 0.177 0.422 6.292 4.77 0.745 2.224 11.238 0.42201 NA 1 NA NA NA 1 NA 8.3333334 827 9 20866974 20866974 C G exonic FOCAD NA nonsynonymous SNV FOCAD:NM_017794:exon20:c.C2153G:p.T718S exonic ENSG00000188352 NA nonsynonymous SNV ENSG00000188352:ENST00000605086:exon6:c.C461G:p.T154S,ENSG00000188352:ENST00000338382:exon17:c.C2153G:p.T718S,ENSG00000188352:ENST00000380249:exon20:c.C2153G:p.T718S Score=403;Name=lod=58 NA 9p21.3 NA NA NA NA rs7875872 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.033 N 1.000 P -0.895 N -0.24 T -0.939 T 0.000 T 0.065 -0.723 0.897 4.54 0.758 1.723 9.747 -0.723394 NA 1 NA NA NA 1 NA 8.3333334 827 9 140374861 140374861 A G exonic PNPLA7 NA nonsynonymous SNV PNPLA7:NM_152286:exon22:c.T2408C:p.V803A,PNPLA7:NM_001098537:exon23:c.T2483C:p.V828A exonic ENSG00000130653 NA nonsynonymous SNV ENSG00000130653:ENST00000371457:exon12:c.T1226C:p.V409A,ENSG00000130653:ENST00000277531:exon22:c.T2408C:p.V803A,ENSG00000130653:ENST00000434090:exon22:c.T2381C:p.V794A,ENSG00000130653:ENST00000406427:exon23:c.T2483C:p.V828A Score=422;Name=lod=69 NA 9q34.3 NA NA NA NA rs1891630 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 0.999 P -2.405 N 1.83 T -0.968 T 0.000 T 0.155 -0.849 0.551 4.02 0.507 6.399 10.716 -0.849328 NA 1 NA NA NA 1 NA 8.3333334 827 11 45937267 45937267 C T exonic PEX16 NA nonsynonymous SNV PEX16:NM_004813:exon4:c.G346A:p.V116I,PEX16:NM_057174:exon4:c.G346A:p.V116I exonic ENSG00000121680 NA nonsynonymous SNV ENSG00000121680:ENST00000241041:exon4:c.G346A:p.V116I,ENSG00000121680:ENST00000378750:exon4:c.G346A:p.V116I,ENSG00000121680:ENST00000525192:exon4:c.G61A:p.V21I,ENSG00000121680:ENST00000532681:exon4:c.G61A:p.V21I Score=504;Name=lod=149 NA 11p11.2 NA NA NA NA rs10742772 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.001 B 0.004 B 0.000 N 0.998 P -1.71 N 2.31 T -0.960 T 0.000 T 0.246 0.47 6.552 5.29 0.861 3.785 10.901 0.470098 NA 1 NA NA NA 1 NA 8.3333334 827 11 58207204 58207204 A G exonic OR5B12 NA nonsynonymous SNV OR5B12:NM_001004733:exon1:c.T421C:p.C141R exonic ENSG00000172362 NA nonsynonymous SNV ENSG00000172362:ENST00000302572:exon1:c.T421C:p.C141R NA NA 11q12.1 NA NA NA NA rs4938895 0.99 0.99 1 1 1 1 1 1 1 1 1 1 0.97 1 1 0.38 T 0.0 B 0.002 B 0.513 N 1.000 P -0.7 N 8.79 T -0.903 T 0.000 T 0.063 -1.393 0.024 -8.89 -3.663 -2.434 8.170 -1.392599 NA 0.35 NA NA NA 0.775 NA 8.3333334 827 11 62292882 62292882 G T exonic AHNAK NA nonsynonymous SNV AHNAK:NM_001620:exon5:c.C9007A:p.Q3003K exonic ENSG00000124942 NA nonsynonymous SNV ENSG00000124942:ENST00000378024:exon5:c.C9007A:p.Q3003K Score=352;Name=lod=36 NA 11q12.3 Score=823;Name=V$SRF_Q6 NA NA NA rs566144 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B . . 0.000 P -2.785 N 2.88 T -1.013 T 0.000 T 0.054 -2.212 0.005 3.97 0.509 0.198 5.639 -2.211641 NA 1 NA NA NA 0.993 NA 8.3333334 827 11 66837965 66837965 T C exonic RHOD NA nonsynonymous SNV RHOD:NM_014578:exon4:c.T400C:p.C134R exonic ENSG00000173156 NA nonsynonymous SNV ENSG00000173156:ENST00000532559:exon2:c.T202C:p.C68R,ENSG00000173156:ENST00000308831:exon4:c.T400C:p.C134R Score=399;Name=lod=56 NA 11q13.2 NA NA NA NA rs4930409 1 1 1 0.999401 1 1 1 0.9977 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -3.78 N -0.89 T -0.929 T 0.000 T 0.382 -0.319 2.483 4.75 1.245 1.429 8.993 -0.319311 NA 1 1 0.999545 NA 1 NA 8.3333334 827 11 71184678 71184678 A C exonic NADSYN1 NA nonsynonymous SNV NADSYN1:NM_018161:exon8:c.A612C:p.Q204H exonic ENSG00000172890 NA nonsynonymous SNV ENSG00000172890:ENST00000319023:exon8:c.A612C:p.Q204H,ENSG00000172890:ENST00000528509:exon8:c.A612C:p.Q204H Score=567;Name=lod=268 NA 11q13.4 Score=858;Name=V$MYCMAX_01 NA NA NA rs7950441 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 0.000 P -2.96 N -1.94 D -0.944 T 0.000 T 0.387 -1.688 0.012 1.05 -0.053 -0.014 3.923 -1.688417 NA 1 NA NA NA 1 NA 8.3333334 827 12 58204283 58204283 T C exonic AVIL NA nonsynonymous SNV AVIL:NM_006576:exon6:c.A610G:p.K204E exonic ENSG00000135407 NA nonsynonymous SNV ENSG00000135407:ENST00000257861:exon6:c.A610G:p.K204E,ENSG00000135407:ENST00000537081:exon6:c.A589G:p.K197E Score=585;Name=lod=318 NA 12q14.1 NA NA NA NA rs2172521 1 1 1 0.9998 1 1 1 0.9992 1 1 1 1 1 1 1 0.37 T 0.0 B 0.001 B 0.000 N 1.000 P -0.31 N 0.73 T -0.959 T 0.000 T 0.087 0.794 8.181 5.19 1.440 0.533 9.319 0.79384 NA 0.56 NA NA NA 1 NA 8.3333334 827 13 39263714 39263714 T C exonic FREM2 NA nonsynonymous SNV FREM2:NM_207361:exon1:c.T2233C:p.S745P exonic ENSG00000150893 NA nonsynonymous SNV ENSG00000150893:ENST00000280481:exon1:c.T2233C:p.S745P Score=355;Name=lod=37 NA 13q13.3 Score=869;Name=V$NFE2_01 NA NA NA rs2496423 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.905 N 0.45 T -0.941 T 0.000 T 0.06 -0.247 2.81 4.94 0.785 3.168 11.813 -0.247142 NA 1 1 0.999319 NA 1 NA 8.3333334 827 15 56386577 56386577 T G exonic RFX7 NA nonsynonymous SNV RFX7:NM_022841:exon9:c.A3349C:p.N1117H exonic ENSG00000181827 NA nonsynonymous SNV ENSG00000181827:ENST00000559847:exon7:c.A3058C:p.N1020H,ENSG00000181827:ENST00000317318:exon9:c.A3349C:p.N1117H,ENSG00000181827:ENST00000422057:exon9:c.A3058C:p.N1020H,ENSG00000181827:ENST00000423270:exon9:c.A3349C:p.N1117H,ENSG00000181827:ENST00000559447:exon9:c.A3058C:p.N1020H Score=694;Name=lod=879 NA 15q21.3 NA NA NA NA rs7170589 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P . . 0.91 T -0.916 T 0.000 T 0.074 -0.366 2.277 5.89 1.519 6.311 15.754 -0.365633 NA 1 1 0.999753 NA 1 NA 8.3333334 827 16 4861709 4861709 G C exonic GLYR1 NA nonsynonymous SNV GLYR1:NM_032569:exon14:c.C1377G:p.H459Q exonic ENSG00000140632 NA nonsynonymous SNV ENSG00000140632:ENST00000381983:exon13:c.C1326G:p.H442Q,ENSG00000140632:ENST00000436648:exon13:c.C1134G:p.H378Q,ENSG00000140632:ENST00000321919:exon14:c.C1377G:p.H459Q,ENSG00000140632:ENST00000591451:exon14:c.C1359G:p.H453Q Score=674;Name=lod=734 NA 16p13.3 Score=950;Name=V$MEIS1_01 NA NA NA rs2085329 1 1 1 NA NA NA NA NA NA 1 1 1 1 1 1 0.69 T 0.0 B 0.0 B 0.000 N 1.000 P -1.735 N 1.7 T -1.019 T 0.000 T 0.28 0.112 4.601 0.098 -0.205 0.102 6.405 0.111634 NA 0.36 NA NA NA 1 NA 8.3333334 827 16 30779716 30779716 A G exonic RNF40 NA nonsynonymous SNV RNF40:NM_001207034:exon11:c.A1544G:p.Q515R,RNF40:NM_001207033:exon13:c.A1844G:p.Q615R,RNF40:NM_014771:exon13:c.A1844G:p.Q615R exonic ENSG00000103549 NA nonsynonymous SNV ENSG00000103549:ENST00000402121:exon7:c.A920G:p.Q307R,ENSG00000103549:ENST00000357890:exon11:c.A1544G:p.Q515R,ENSG00000103549:ENST00000563683:exon12:c.A1724G:p.Q575R,ENSG00000103549:ENST00000324685:exon13:c.A1844G:p.Q615R Score=506;Name=lod=152 NA 16p11.2 NA NA NA NA rs7195142 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.83 T 0.0 B 0.0 B 0.021 N 1.000 P -1.59 N 1.66 T -0.964 T 0.000 T 0.296 -0.484 1.774 5.0 0.853 2.979 10.511 -0.483637 NA 0.86 NA NA NA 1 NA 8.3333334 827 16 57562804 57562804 G A exonic CCDC102A NA nonsynonymous SNV CCDC102A:NM_033212:exon2:c.C286T:p.R96W exonic ENSG00000135736 NA nonsynonymous SNV ENSG00000135736:ENST00000258214:exon2:c.C286T:p.R96W Score=734;Name=lod=1281 NA 16q21 NA NA NA NA rs12935069 1 1 1 1 1 1 1 1 1 1 1 0.99 1 1 1 0.24 T 0.0 B 0.0 B 0.000 N 0.978 P -2.415 N 1.18 T -0.930 T 0.000 T 0.327 1.278 10.17 4.82 0.698 6.801 9.535 1.277909 1.277909 1 NA NA NA NA NA 8.3333334 827 16 68025801 68025801 G C exonic DPEP2 NA nonsynonymous SNV DPEP2:NM_022355:exon5:c.C602G:p.P201R exonic ENSG00000167261 NA nonsynonymous SNV ENSG00000167261:ENST00000573808:exon3:c.C254G:p.P85R,ENSG00000167261:ENST00000572888:exon4:c.C602G:p.P201R,ENSG00000167261:ENST00000393847:exon5:c.C602G:p.P201R,ENSG00000167261:ENST00000412757:exon6:c.C602G:p.P201R,ENSG00000167261:ENST00000575203:exon6:c.C602G:p.P201R Score=329;Name=lod=29 NA 16q22.1 NA NA NA NA rs255051 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 0.000 P -4 N 2.15 T -0.960 T 0.000 T 0.536 -1.053 0.192 3.82 0.757 3.748 9.868 -1.052545 NA 1 NA NA NA 1 NA 8.3333334 827 18 29497573 29497573 A G exonic TRAPPC8 NA nonsynonymous SNV TRAPPC8:NM_014939:exon3:c.T410C:p.L137S exonic ENSG00000153339 NA nonsynonymous SNV ENSG00000153339:ENST00000283351:exon3:c.T410C:p.L137S,ENSG00000153339:ENST00000578658:exon3:c.T335C:p.L112S,ENSG00000153339:ENST00000582513:exon3:c.T410C:p.L137S,ENSG00000153339:ENST00000582539:exon3:c.T248C:p.L83S,ENSG00000153339:ENST00000580104:exon4:c.T410C:p.L137S Score=605;Name=lod=382 NA 18q12.1 NA NA NA NA rs6506948 1 1 1 0.9998 1 1 1 0.9992 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.000 N 0.928 P -1.935 N 3.51 T -0.940 T 0.000 T 0.691 3.147 16.52 6.05 1.587 7.663 15.650 3.147218 3.147218 1 1 0.998865 NA 1 NA 8.3333334 827 19 19040312 19040312 G C exonic HOMER3 NA nonsynonymous SNV HOMER3:NM_001145724:exon8:c.C918G:p.S306R,HOMER3:NM_001145721:exon10:c.C1017G:p.S339R,HOMER3:NM_001145722:exon10:c.C1026G:p.S342R,HOMER3:NM_004838:exon10:c.C1026G:p.S342R exonic ENSG00000051128 NA nonsynonymous SNV ENSG00000051128:ENST00000594794:exon6:c.C399G:p.S133R,ENSG00000051128:ENST00000594439:exon8:c.C918G:p.S306R,ENSG00000051128:ENST00000221222:exon9:c.C1017G:p.S339R,ENSG00000051128:ENST00000539827:exon9:c.C1026G:p.S342R,ENSG00000051128:ENST00000355887:exon10:c.C1017G:p.S339R,ENSG00000051128:ENST00000392351:exon10:c.C1026G:p.S342R,ENSG00000051128:ENST00000433218:exon10:c.C1017G:p.S339R,ENSG00000051128:ENST00000542541:exon10:c.C1026G:p.S342R Score=397;Name=lod=55 NA 19p13.11 NA Name=Pol2 NA NA rs1059240 1 1 1 1 1 1 1 1 1 1 1 0.99 1 1 1 0.2 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 2.36 T -1.055 T 0.000 T 0.141 0.792 8.171 1.51 -0.031 1.539 5.204 0.791586 NA 0.23 NA NA NA 0.978 NA 8.3333334 827 19 36355595 36355595 A G exonic KIRREL2 NA nonsynonymous SNV KIRREL2:NM_199179:exon13:c.A1621G:p.K541E,KIRREL2:NM_032123:exon14:c.A1771G:p.K591E,KIRREL2:NM_199180:exon14:c.A1771G:p.K591E exonic ENSG00000126259 NA nonsynonymous SNV ENSG00000126259:ENST00000347900:exon13:c.A1621G:p.K541E,ENSG00000126259:ENST00000592409:exon13:c.A1666G:p.K556E,ENSG00000126259:ENST00000262625:exon14:c.A1771G:p.K591E,ENSG00000126259:ENST00000360202:exon14:c.A1771G:p.K591E,ENSG00000126259:ENST00000586102:exon17:c.A1711G:p.K571E Score=343;Name=lod=33 NA 19q13.12 NA NA NA NA rs382789 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.001 B 0.168 N 1.000 P -1.5 N 1.36 T -0.988 T 0.000 T 0.098 -1.772 0.01 2.25 0.031 1.004 5.767 -1.772449 NA 1 NA NA NA 1 NA 8.3333334 827 21 30250615 30250615 T C exonic N6AMT1 NA nonsynonymous SNV N6AMT1:NM_182749:exon4:c.A353G:p.K118R,N6AMT1:NM_013240:exon5:c.A437G:p.K146R exonic ENSG00000156239 NA nonsynonymous SNV ENSG00000156239:ENST00000351429:exon4:c.A353G:p.K118R,ENSG00000156239:ENST00000303775:exon5:c.A437G:p.K146R,ENSG00000156239:ENST00000460212:exon5:c.A437G:p.K146R Score=437;Name=lod=80 NA 21q21.3 NA NA NA NA rs2205447 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.45 T 0.0 B 0.005 B 0.029 N 1.000 P 0.245 N 2.52 T -0.953 T 0.000 T 0.067 0.616 7.316 4.26 1.433 0.728 7.544 0.615905 NA 0.73 NA NA NA 0.971 NA 8.3333334 827 X 48460314 48460314 A G exonic WDR13 NA nonsynonymous SNV WDR13:NM_001166426:exon5:c.A698G:p.H233R,WDR13:NM_017883:exon6:c.A974G:p.H325R exonic ENSG00000101940 NA nonsynonymous SNV ENSG00000101940:ENST00000218056:exon6:c.A974G:p.H325R,ENSG00000101940:ENST00000376729:exon7:c.A974G:p.H325R Score=387;Name=lod=50 NA Xp11.23 NA NA NA NA rs235842 1 1 1 NA NA NA NA NA NA 1 1 1 1 1 1 0.28 T 0.0 B 0.0 B 0.000 N 1.000 P -1.555 N -0.14 T -0.958 T 0.000 T 0.2 -0.867 0.51 4.54 0.507 3.190 9.389 -0.866848 NA 1 1 0.999478 NA 0.746 NA 8.3333334 827 X 129147079 129147079 T C exonic BCORL1 NA nonsynonymous SNV BCORL1:NM_021946:exon3:c.T331C:p.F111L exonic ENSG00000085185 NA nonsynonymous SNV ENSG00000085185:ENST00000540052:exon3:c.T331C:p.F111L,ENSG00000085185:ENST00000218147:exon4:c.T331C:p.F111L,ENSG00000085185:ENST00000303743:exon4:c.T331C:p.F111L,ENSG00000085185:ENST00000359304:exon4:c.T331C:p.F111L NA NA Xq26.1 NA NA NA NA rs4830173 1 1 1 NA NA NA NA NA NA 1 1 1 1 1 1 0.37 T 0.0 B 0.0 B 0.103 N 1.000 P -0.55 N 1.72 T -0.989 T 0.000 T 0.067 0.048 4.265 3.35 1.025 0.657 2.248 0.048319 NA 1 NA NA NA 0.746 NA 8.3333334 827 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 827 20 1298963 1298963 C T exonic SDCBP2 NA nonsynonymous SNV SDCBP2:NM_001199784:exon4:c.G224A:p.S75N,SDCBP2:NM_080489:exon4:c.G224A:p.S75N exonic ENSG00000125775 NA nonsynonymous SNV ENSG00000125775:ENST00000339987:exon4:c.G224A:p.S75N,ENSG00000125775:ENST00000360779:exon4:c.G224A:p.S75N,ENSG00000125775:ENST00000381812:exon4:c.G224A:p.S75N NA NA 20p13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008359 NA 0.59 T 0.002 B 0.002 B 0.358 N 1.000 N 0.14 N 1.54 T -0.994 T 0.029 T 0.011 0.84 8.391 0.345 0.182 -0.311 4.245 0.83964 NA 0.36 NA NA NA NA NA 8.333325 827 1 10535017 10535017 C T UTR5 PEX14 NM_004565:c.-7C>T NA NA UTR5 ENSG00000142655 ENST00000356607:c.-7C>T,ENST00000538836:c.-124301C>T NA NA Score=551;Name=lod=232 NA 1p36.22 NA Name=TAF1,HMGN3,ZEB1_(SC-25388),NFKB,Znf143_(16618-1-AP),Egr-1,TR4,TBP,CCNT2,YY1,GABP,MEF2A,Pol2-4H8,STAT1,ELF1_(SC-631),HEY1,ETS1,Max,Pol2,ZBTB33,YY1_(C-20),USF-1,Pol2(phosphoS2),Oct-2,c-Myc,SP1,IRF1,SRF,HA-E2F1,CHD2_(N-1250),Sin3Ak-20,p300,RXRA,SIX5,E2F4,eGFP-JunD,TAF7_(SQ-8),POU2F2,NRSF,E2F6_(H-50),PAX5-C20 Name=148 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 2.881041 2.881041 NA NA NA NA NA NA 8.3331334 827 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 827 1 228506768 228506768 C T exonic OBSCN NA nonsynonymous SNV OBSCN:NM_001098623:exon54:c.C14315T:p.P4772L,OBSCN:NM_052843:exon54:c.C14315T:p.P4772L,OBSCN:NM_001271223:exon65:c.C17186T:p.P5729L exonic ENSG00000154358 NA nonsynonymous SNV ENSG00000154358:ENST00000284548:exon54:c.C14315T:p.P4772L,ENSG00000154358:ENST00000366709:exon54:c.C5672T:p.P1891L,ENSG00000154358:ENST00000422127:exon54:c.C14315T:p.P4772L,ENSG00000154358:ENST00000366707:exon60:c.C7217T:p.P2406L,ENSG00000154358:ENST00000570156:exon65:c.C17186T:p.P5729L NA NA 1q42.13 NA NA NA NA rs142983293 0.0005 0.0005 0.001 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0002 0.0013 0.31 T 0.11 B 0.035 B 0.076 N 1.000 N 0 N 0.69 T -1.059 T 0.075 T 0.188 1.671 11.55 2.13 0.363 -0.042 4.527 1.671106 1.671106 0.21 0.000466 0 NA NA NA 8.3316674 827 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 827 15 90168171 90168171 C T exonic TICRR NA nonsynonymous SNV TICRR:NM_152259:exon20:c.C4630T:p.P1544S exonic ENSG00000140534 NA nonsynonymous SNV ENSG00000140534:ENST00000268138:exon20:c.C4630T:p.P1544S,ENSG00000140534:ENST00000560985:exon20:c.C4627T:p.P1543S NA NA 15q26.1 NA NA NA NA rs144798110 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.001 0.0028 0.75 T 0.131 B 0.023 B 0.187 N 1.000 N 1.245 L 3.06 T -0.970 T 0.017 T 0.049 -0.208 2.99 -2.84 -0.355 0.282 7.062 -0.208317 NA 0.87 0.001512 0.000455 NA NA NA 8.3308214 827 15 55652187 55652187 T C exonic CCPG1 NA nonsynonymous SNV CCPG1:NM_001204450:exon8:c.A1784G:p.E595G,CCPG1:NM_004748:exon8:c.A1784G:p.E595G,CCPG1:NM_020739:exon8:c.A1784G:p.E595G exonic ENSG00000260916 NA nonsynonymous SNV ENSG00000260916:ENST00000310958:exon8:c.A1784G:p.E595G,ENSG00000260916:ENST00000442196:exon8:c.A1784G:p.E595G,ENSG00000260916:ENST00000569205:exon8:c.A1784G:p.E595G NA NA 15q21.3 NA NA NA NA rs201970644 NA NA NA 0.000599042 NA NA NA NA 0.0031 NA NA NA NA 0.0009 0.0018 0.22 T 0.01 B 0.006 B 0.587 N 0.995 N 0.755 N 3.78 T -0.926 T 0.008 T 0.227 1.295 10.24 -2.11 -0.198 0.745 0.300 1.295075 1.295075 0.16 0.001845 0.000555 NA NA NA 8.3305884 827 5 5462148 5462148 G A exonic KIAA0947 NA nonsynonymous SNV KIAA0947:NM_015325:exon13:c.G2701A:p.V901I exonic ENSG00000164151 NA nonsynonymous SNV ENSG00000164151:ENST00000296564:exon13:c.G2701A:p.V901I NA NA 5p15.32 NA NA NA NA rs2578500 0.69 0.69 0.702 0.71266 0.6471 0.6845 0.781 0.7126 0.7607 0.64 0.72 0.72 0.7 0.6852 0.74 0.68 T 0.0 B 0.0 B 0.038 N 1.000 P 0.695 N 2.84 T -0.981 T 0.000 T 0.016 -0.936 0.367 -5.57 -1.168 -1.220 7.260 -0.936035 NA 0.14 0.67051 0.732533 NA 0.746 NA 8.3305234 827 17 18220770 18220770 G A exonic SMCR8 NA nonsynonymous SNV SMCR8:NM_144775:exon1:c.G1667A:p.R556H exonic ENSG00000176994 NA nonsynonymous SNV ENSG00000176994:ENST00000406438:exon1:c.G1667A:p.R556H Score=393;Name=lod=53 NA 17p11.2 Score=772;Name=V$STAT3_01 NA NA NA rs1563632 0.69 0.69 0.694 0.675719 0.659 0.5407 0.6916 0.9039 0.5123 0.67 0.54 0.68 0.89 0.6694 0.89 1 T 0.0 B 0.0 B 0.038 N 1.000 P -0.46 N 1.6 T -0.963 T 0.000 T 0.093 -2.464 0.003 3.78 0.485 0.419 5.252 -2.464307 NA 0 0.674884 0.845438 NA 0.703 NA 8.3300494 827 1 26140573 26140573 C A exonic SEPN1 NA unknown UNKNOWN exonic ENSG00000162430,ENSG00000255054 NA nonsynonymous SNV ENSG00000255054:ENST00000527604:exon2:c.C27A:p.N9K,ENSG00000162430:ENST00000354177:exon12:c.C1404A:p.N468K NA NA 1p36.11 NA Name=CTCF NA NA rs2294228 0.71 0.71 0.679 0.697484 0.7753 0.9683 0.8285 0.2118 0.9018 0.79 0.96 0.82 0.23 0.7747 0.96 0.11 T 0.0 B 0.001 B 0.054 N 0.100 P 1.39 L -2.36 D -0.998 T 0.000 T 0.079 1.18 9.799 2.58 0.271 0.158 7.686 1.179976 NA 0.23 0.787229 0.324148 NA 0.63 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082012.2;CLNDSDB=.;CLNDSDBID=. 8.3294377 827 22 36598081 36598081 A T exonic APOL4 NA unknown UNKNOWN exonic ENSG00000100336 NA nonsynonymous SNV ENSG00000100336:ENST00000352371:exon2:c.T2A:p.M1K,ENSG00000100336:ENST00000404685:exon2:c.T2A:p.M1K NA NA 22q12.3 NA NA NA NA rs6000181 0.09 0.09 0.094 0.0766773 0.1441 0.0694 0.0735 0.0416 0.0644 0.14 0.07 0.08 0.07 0.0847 0.14 0 D 0.043 B 0.003 B 0.018 U 0.000 P . . 3.94 T -1.018 T 0.000 T 0.34 1.296 10.24 -3.55 -0.948 -0.059 4.716 1.295794 1.295794 0 0.108605 0.036995 NA 0.13 NA 8.3292617 827 17 9729503 9729503 G C exonic GLP2R NA nonsynonymous SNV GLP2R:NM_004246:exon1:c.G123C:p.R41S exonic ENSG00000065325 NA nonsynonymous SNV ENSG00000065325:ENST00000262441:exon1:c.G123C:p.R41S,ENSG00000065325:ENST00000574361:exon1:c.G123C:p.R41S NA NA 17p13.1 NA NA NA NA rs114271428 0.0009 0.0009 NA 0.000599042 0.003 NA NA NA NA 0.0026 NA NA NA 0.0008 0.0026 0.39 T 0.0 B 0.0 B . . 1.000 N 0.46 N 0.5 T -1.039 T 0.073 T 0.092 1.091 9.453 0.807 0.091 1.034 3.234 1.091153 NA 0.23 0.001395 0.000681 NA NA NA 8.3281384 827 15 42278168 42278168 C T exonic PLA2G4E NA nonsynonymous SNV PLA2G4E:NM_001206670:exon18:c.G2071A:p.E691K exonic ENSG00000188089 NA nonsynonymous SNV ENSG00000188089:ENST00000413860:exon17:c.G1984A:p.E662K,ENSG00000188089:ENST00000399518:exon18:c.G2071A:p.E691K NA NA 15q15.1 Score=922;Name=V$AP1FJ_Q2 NA NA NA rs118171374 0.0014 0.0014 0.001 0.00119808 0.001 NA 0.0058 0.0008 NA 0.0013 NA 0.01 NA 0.0018 0.011 0.34 T 0.327 B 0.048 B 0.861 N 1.000 N 0.69 N 2.69 T -0.973 T 0.015 T 0.156 1.752 11.82 -0.763 -0.079 -0.452 9.987 1.752007 1.752007 0.39 0.002476 0.000468 NA 0.007 NA 8.3280574 827 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 827 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 827 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 827 12 94761701 94761701 T C exonic CCDC41 NA synonymous SNV CCDC41:NM_001042399:exon10:c.A1212G:p.R404R,CCDC41:NM_016122:exon11:c.A1212G:p.R404R exonic ENSG00000173588 NA synonymous SNV ENSG00000173588:ENST00000339839:exon10:c.A1212G:p.R404R,ENSG00000173588:ENST00000397807:exon10:c.A1113G:p.R371R,ENSG00000173588:ENST00000397809:exon11:c.A1212G:p.R404R,ENSG00000173588:ENST00000547232:exon11:c.A1113G:p.R371R Score=603;Name=lod=377 NA 12q22 Score=812;Name=V$GRE_C NA Name=15 NA rs12426243 0.1 0.1 0.095 0.0790735 0.1183 0.0595 0.1311 0.0492 0.0624 0.12 0.08 0.13 0.07 0.1092 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.986924 NA NA 0.113581 0.049051 NA 0.072 NA 8.3255856 828 19 41383153 41383153 A G exonic CYP2A7 NA nonsynonymous SNV CYP2A7:NM_030589:exon6:c.T950C:p.M317T,CYP2A7:NM_000764:exon7:c.T1103C:p.M368T exonic ENSG00000198077 NA nonsynonymous SNV ENSG00000198077:ENST00000291764:exon6:c.T950C:p.M317T,ENSG00000198077:ENST00000301146:exon7:c.T1103C:p.M368T Score=272;Name=lod=17 NA 19q13.2 NA NA NA NA rs2261144 0.31 0.31 0.259 0.313898 0.3499 0.2569 0.451 0.1657 0.4387 0.35 0.26 0.45 0.18 0.3278 0.45 0.87 T 0.2 B 0.29 B 0.000 U 1.000 P 1.09 L -0.29 T -0.996 T 0.000 T 0.127 -2.413 0.003 1.19 0.121 3.405 7.420 -2.412682 NA 0.15 0.330658 0.20404 ID=COSM1393909;OCCURENCE=1(large_intestine) 0.319 NA 8.3249754 828 6 31125158 31125158 C T intronic CCHCR1 NA NA NA exonic ENSG00000204536 NA nonsynonymous SNV ENSG00000204536:ENST00000426967:exon1:c.G220A:p.E74K Score=289;Name=lod=20 NA 6p21.33 NA NA NA NA rs743401 0.65 0.65 0.627 0.654952 0.6163 0.6141 0.6888 0.7171 0.6288 0.63 0.58 0.69 0.72 0.6224 0.72 0 D . . . . . . 0.000 P . . 1.71 T -1.078 T 0.042 T 0.116 0.536 6.905 3.06 0.846 0.990 6.762 0.536473 NA 0 0.603348 0.693989 NA 0.609 NA 8.3246187 828 20 10393629 10393629 G A exonic MKKS NA synonymous SNV MKKS:NM_018848:exon3:c.C534T:p.I178I,MKKS:NM_170784:exon3:c.C534T:p.I178I exonic ENSG00000125863 NA synonymous SNV ENSG00000125863:ENST00000347364:exon3:c.C534T:p.I178I,ENSG00000125863:ENST00000399054:exon3:c.C534T:p.I178I Score=461;Name=lod=100 NA 20p12.2 NA Name=EBF,PU.1,EBF1_(C-8) NA NA rs17852625 0.17 0.17 0.165 0.191494 0.0875 0.256 0.1153 0.2103 0.2607 0.09 0.23 0.13 0.25 0.1433 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.392933 NA NA 0.111977 0.169542 NA 0.152 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Bardet-Biedl_syndrome|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000020861.2|RCV000132694.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1363:C0752166:209900:ORPHA110:5619004|. 8.3238896 828 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 828 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 828 3 145917761 145917761 T C exonic PLSCR4 NA nonsynonymous SNV PLSCR4:NM_001128305:exon6:c.A463G:p.I155V,PLSCR4:NM_020353:exon6:c.A463G:p.I155V,PLSCR4:NM_001128304:exon8:c.A463G:p.I155V exonic ENSG00000114698 NA nonsynonymous SNV ENSG00000114698:ENST00000354952:exon6:c.A463G:p.I155V,ENSG00000114698:ENST00000446574:exon6:c.A463G:p.I155V,ENSG00000114698:ENST00000460350:exon7:c.A463G:p.I155V,ENSG00000114698:ENST00000476202:exon7:c.A463G:p.I155V,ENSG00000114698:ENST00000493382:exon8:c.A463G:p.I155V NA NA 3q24 NA NA NA NA rs1061409 0.26 0.26 0.233 0.240216 0.3429 0.1925 0.3847 0.0991 0.272 0.35 0.2 0.34 0.11 0.3215 0.35 0.14 T 0.0 B 0.001 B 0.824 N 0.011 P 0.2 N 2.04 T -0.926 T 0.000 T 0.039 1.028 9.2 -4.72 -0.906 -1.353 2.874 1.028131 NA 0.22 0.348488 0.153427 NA 0.297 NA 8.3204454 828 12 113357237 113357237 G C exonic OAS1 NA nonsynonymous SNV OAS1:NM_016816:exon6:c.G1082C:p.R361T exonic ENSG00000089127 NA nonsynonymous SNV ENSG00000089127:ENST00000552526:exon1:c.G44C:p.R15T,ENSG00000089127:ENST00000202917:exon6:c.G1082C:p.R361T NA NA 12q24.13 NA NA NA NA rs1051042 0.78 0.78 0.768 0.787141 0.6521 0.745 0.7954 0.9728 0.7127 0.66 0.78 0.77 0.98 0.7156 0.98 0.49 T 0.0 B 0.0 B . . 1.000 P 0 N 3.45 T -1.053 T 0.000 T 0.045 -0.452 1.907 -4.47 -1.192 -1.899 1.130 -0.451701 NA 0.73 0.645814 0.923059 NA 0.703 NA 8.3198194 828 13 41814531 41814531 C T exonic MTRF1 NA nonsynonymous SNV MTRF1:NM_004294:exon6:c.G736A:p.G246S exonic ENSG00000120662 NA nonsynonymous SNV ENSG00000120662:ENST00000379480:exon6:c.G736A:p.G246S,ENSG00000120662:ENST00000430347:exon7:c.G775A:p.G259S,ENSG00000120662:ENST00000379477:exon8:c.G736A:p.G246S NA NA 13q14.11 NA NA NA NA rs150939191 0.0023 0.0023 0.002 0.00139776 0.005 NA 0.0014 0.0008 NA 0.01 NA 0.0028 NA 0.0033 0.01 0.34 T 0.006 B 0.002 B 0.217 N 1.000 N 1.13 L 0.88 T -1.050 T 0.045 T 0.116 0.199 5.07 -1.55 -0.118 -0.021 6.676 0.198639 NA 0.28 0.00593 0.00227 NA NA CLINSIG=other;CLNDBN=Malignant_melanoma;CLNREVSTAT=not;CLNACC=RCV000070365.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 8.3191034 828 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 828 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 828 11 82996986 82996986 A C exonic CCDC90B NA nonsynonymous SNV CCDC90B:NM_021825:exon1:c.T30G:p.F10L exonic ENSG00000137500 NA nonsynonymous SNV ENSG00000137500:ENST00000260054:exon1:c.T30G:p.F10L,ENSG00000137500:ENST00000526265:exon1:c.T30G:p.F10L,ENSG00000137500:ENST00000527025:exon1:c.T30G:p.F10L,ENSG00000137500:ENST00000528149:exon1:c.T30G:p.F10L,ENSG00000137500:ENST00000529073:exon1:c.T30G:p.F10L,ENSG00000137500:ENST00000529312:exon1:c.T30G:p.F10L,ENSG00000137500:ENST00000529689:exon1:c.T30G:p.F10L,ENSG00000137500:ENST00000529745:exon1:c.T30G:p.F10L,ENSG00000137500:ENST00000529856:exon1:c.T30G:p.F10L,ENSG00000137500:ENST00000534753:exon1:c.T30G:p.F10L NA NA 11q14.1 NA Name=ZNF263,AP-2gamma,EBF,TBP,AP-2alpha,BRCA1_(C-1863),Sin3Ak-20,SIX5,BAF170,STAT3,ERalpha_a,Mxi1_(bHLH),ZBTB33,c-Myc,SRF,ELF1_(SC-631),HEY1,ETS1,TAF1,RFX5_(N-494),NFKB,Znf143_(16618-1-AP),GABP,Pol2-4H8,FOXA1_(C-20),USF2,Pol2,USF-1,Pol2(phosphoS2),USF1_(SC-8983),HA-E2F1,CHD2_(N-1250) Name=148 NA rs494791 0.67 0.67 0.67 0.677716 0.673 0.5794 0.4813 0.8797 0.6503 0.68 0.55 0.53 0.87 0.6611 0.87 . . 0.0 B 0.0 B 0.001 N 0.874 P -1.725 N 1.9 T -1.019 T 0.000 T 0.318 0.024 4.138 -1.9 -0.199 -1.228 9.130 0.023882 NA 1 0.681089 0.840672 NA 0.667 NA 8.3181444 828 1 204237416 204237416 C T exonic PLEKHA6 NA nonsynonymous SNV PLEKHA6:NM_014935:exon4:c.G127A:p.V43I exonic ENSG00000143850 NA nonsynonymous SNV ENSG00000143850:ENST00000272203:exon4:c.G127A:p.V43I,ENSG00000143850:ENST00000414478:exon4:c.G127A:p.V43I Score=534;Name=lod=197 NA 1q32.1 NA NA Name=2 NA rs10900571 0.68 0.68 0.657 0.632588 0.661 0.8046 0.7637 0.475 0.546 0.66 0.79 0.75 0.51 0.681 0.79 0.5 T 0.0 B 0.0 B 0.038 N 0.999 P -1.25 N 2.77 T -1.071 T 0.000 T 0.064 1.204 9.89 0.27 -0.138 1.067 10.037 1.203838 NA 0.48 0.673837 0.503858 ID=COSM1179739;OCCURENCE=1(prostate) 0.674 NA 8.3174964 828 10 116057112 116057112 C T exonic AFAP1L2 NA nonsynonymous SNV AFAP1L2:NM_001001936:exon17:c.G2174A:p.G725D,AFAP1L2:NM_032550:exon17:c.G2174A:p.G725D exonic ENSG00000169129 NA nonsynonymous SNV ENSG00000169129:ENST00000304129:exon17:c.G2174A:p.G725D,ENSG00000169129:ENST00000369271:exon17:c.G2174A:p.G725D,ENSG00000169129:ENST00000545353:exon18:c.G2333A:p.G778D NA NA 10q25.3 NA NA NA NA rs149846490 0.0032 0.0032 NA 0.00199681 0.006 NA 0.0043 0.0008 NA 0.01 NA 0.01 NA 0.0035 0.01 0.61 T 0.0 B 0.002 B 0.292 N 1.000 N 0.345 N 2.62 T -0.989 T 0.010 T 0.225 -0.661 1.102 -5.29 -0.603 0.125 0.430 -0.66091 NA 0.61 0.006744 0.000908 NA NA NA 8.3170894 828 5 177546780 177546780 A G exonic N4BP3 NA nonsynonymous SNV N4BP3:NM_015111:exon2:c.A196G:p.S66G exonic ENSG00000145911 NA nonsynonymous SNV ENSG00000145911:ENST00000274605:exon2:c.A196G:p.S66G NA NA 5q35.3 NA NA NA NA rs145353567 0.0037 0.0037 NA 0.00219649 0.007 NA 0.0043 0.0008 NA 0.01 NA 0.01 NA 0.004 0.01 0.34 T 0.0 B 0.0 B 0.829 N 1.000 N 0.345 N 6.93 T -1.011 T 0.001 T 0.032 -1.871 0.008 -3.12 -0.540 -0.327 4.138 -1.871491 NA 0.96 0.00686 0.000454 NA NA NA 8.3154734 829 X 129150143 129150143 T C exonic BCORL1 NA nonsynonymous SNV BCORL1:NM_021946:exon3:c.T3395C:p.L1132P exonic ENSG00000085185 NA nonsynonymous SNV ENSG00000085185:ENST00000456822:exon1:c.T2195C:p.L732P,ENSG00000085185:ENST00000540052:exon3:c.T3395C:p.L1132P,ENSG00000085185:ENST00000218147:exon4:c.T3395C:p.L1132P,ENSG00000085185:ENST00000303743:exon4:c.T3395C:p.L1132P,ENSG00000085185:ENST00000359304:exon4:c.T3395C:p.L1132P NA NA Xq26.1 NA NA NA NA rs200529481 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019 NA 0.29 T 0.396 B 0.043 B . . 1.000 N 0 N 1.47 T -1.051 T 0.035 T 0.533 -0.271 2.699 -2.72 -0.447 -0.297 2.583 -0.271403 NA 0.11 NA NA NA NA NA 8.3143334 829 6 132891675 132891675 C T exonic TAAR6 NA nonsynonymous SNV TAAR6:NM_175067:exon1:c.C215T:p.A72V exonic ENSG00000146383 NA nonsynonymous SNV ENSG00000146383:ENST00000275198:exon1:c.C215T:p.A72V NA NA 6q23.2 NA NA NA NA rs41298393 0.0037 0.0037 0.004 0.00299521 0.008 NA 0.0029 NA 0.0051 0.01 NA 0.0028 NA 0.0047 0.01 0.18 T 0.001 B 0.01 B 0.389 N 0.999 N 0.965 L -0.41 T -1.037 T 0.072 T 0.152 0.804 8.226 2.99 0.580 0.329 3.351 0.803628 NA 0.65 0.007209 0.000908 NA NA NA 8.3134244 829 19 57985702 57985702 C A exonic ZNF772 NA nonsynonymous SNV ZNF772:NM_001144068:exon4:c.G287T:p.G96V,ZNF772:NM_001024596:exon5:c.G410T:p.G137V exonic ENSG00000197128 NA nonsynonymous SNV ENSG00000197128:ENST00000427512:exon2:c.G74T:p.G25V,ENSG00000197128:ENST00000356584:exon4:c.G287T:p.G96V,ENSG00000197128:ENST00000343280:exon5:c.G410T:p.G137V NA NA 19q13.43 NA NA NA NA rs149559142 0.0037 0.0037 0.005 0.00179712 0.006 NA 0.0029 NA 0.001 0.01 NA 0.01 NA 0.0052 0.01 0.3 T 0.015 B 0.006 B . . 1.000 N 0.935 L 3.41 T -0.925 T 0.007 T 0.082 -0.651 1.137 -7.18 -0.931 -0.238 0.653 -0.650648 NA 0.01 0.008837 0.001816 NA NA NA 8.3132964 829 13 42875089 42875089 C T exonic AKAP11 NA nonsynonymous SNV AKAP11:NM_016248:exon8:c.C2207T:p.S736L exonic ENSG00000023516 NA nonsynonymous SNV ENSG00000023516:ENST00000025301:exon8:c.C2207T:p.S736L NA NA 13q14.11 NA NA NA NA rs79681827 0.01 0.01 0.008 0.00559105 0.006 NA 0.0115 0.0106 NA 0.01 NA 0.01 0.02 0.0069 0.022 0.17 T 0.066 B 0.011 B 0.396 N 1.000 N 0.345 N 2.45 T -0.988 T 0.015 T 0.028 -1.743 0.01 2.3 0.115 0.619 8.245 -1.743332 NA 0.26 0.007326 0.01566 NA 0.014 NA 8.3131074 829 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 829 20 3102998 3102998 G A exonic UBOX5 NA nonsynonymous SNV UBOX5:NM_001267584:exon3:c.C287T:p.T96M,UBOX5:NM_014948:exon3:c.C287T:p.T96M,UBOX5:NM_199415:exon3:c.C287T:p.T96M exonic ENSG00000185019 NA nonsynonymous SNV ENSG00000185019:ENST00000217173:exon3:c.C287T:p.T96M,ENSG00000185019:ENST00000348031:exon3:c.C287T:p.T96M NA NA 20p13 NA NA NA NA rs999409 0.02 0.02 0.022 0.0163738 0.008 NA 0.0014 0.0514 0.0051 0.01 NA NA 0.06 0.0073 0.06 0.05 D 0.122 B 0.015 B 0.957 U 1.000 N 1.1 L 1.49 T -1.026 T 0.007 T 0.037 -0.029 3.865 0.682 0.628 0.413 3.565 -0.029179 NA 0.08 0.005465 0.048116 NA 0.022 NA 8.3125684 829 6 109768568 109768568 G T exonic MICAL1 NA nonsynonymous SNV MICAL1:NM_001159291:exon15:c.C1804A:p.H602N,MICAL1:NM_022765:exon16:c.C2062A:p.H688N exonic ENSG00000135596 NA nonsynonymous SNV ENSG00000135596:ENST00000358577:exon15:c.C1804A:p.H602N,ENSG00000135596:ENST00000358807:exon16:c.C2062A:p.H688N,ENSG00000135596:ENST00000368952:exon16:c.C2119A:p.H707N NA NA 6q21 NA NA NA NA rs41288558 0.0037 0.0037 0 0.00179712 0.0089 NA NA NA NA 0.01 NA NA NA 0.0072 0.01 0.49 T 0.0 B 0.001 B 0.464 N 1.000 N 0.345 N 0.8 T -0.963 T 0.017 T 0.141 -0.055 3.734 1.17 0.098 1.036 4.961 -0.054922 NA 0.02 0.005 0.002724 NA NA NA 8.3122334 829 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 829 19 18497024 18497024 G C exonic GDF15 NA nonsynonymous SNV GDF15:NM_004864:exon1:c.G25C:p.V9L exonic ENSG00000130513 NA nonsynonymous SNV ENSG00000130513:ENST00000252809:exon1:c.G25C:p.V9L,ENSG00000130513:ENST00000595973:exon2:c.G25C:p.V9L NA NA 19p13.11 NA Name=BCLAF1_(M33-P5B11),HNF4A,HEY1,NELFe,ETS1,GABP,CTCF_(SC-5916),Pol2-4H8,TAF1,HMGN3,CTCF_(C-20),E2F6,CTCF,GTF2B,HDAC2_(SC-6296),TCF12,Ini1,TAF7_(SQ-8),CHD2_(N-1250),FOSL2,Pol2,Pol2(phosphoS2),SMC3_(ab9263),BAF155,CTCFL_(SC-98982),GTF2F1_(RAP-74),CEBPB,YY1,ZBTB7A_(SC-34508),Pol2(b),TBP,NRSF,Sin3Ak-20,E2F4,eGFP-JunD,RXRA,Rad21,TAL1_(SC-12984),IRF1,TCF4,Max,YY1_(C-20) Name=142 NA rs1059519 0.72 0.72 0.7 0.712061 0.675 0.6835 0.7017 0.8215 0.6391 0.68 0.69 0.72 0.82 0.6874 0.82 0.36 T 0.0 B 0.0 B 0.156 N 1.000 P -0.345 N -1.55 D -0.957 T 0.000 T 0.067 -0.646 1.154 -1.7 -0.515 -0.408 1.240 -0.645698 NA 0.81 0.659302 0.786882 ID=COSM137684;OCCURENCE=1(skin) 0.739 NA 8.3116314 829 7 100228635 100228635 T C exonic TFR2 NA nonsynonymous SNV TFR2:NM_001206855:exon6:c.A634G:p.S212G,TFR2:NM_003227:exon9:c.A1147G:p.S383G exonic ENSG00000106327 NA nonsynonymous SNV ENSG00000106327:ENST00000431692:exon7:c.A890G:p.E297G,ENSG00000106327:ENST00000223051:exon9:c.A1147G:p.S383G,ENSG00000106327:ENST00000462107:exon10:c.A1147G:p.S383G NA NA 7q22.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0222 NA 1 T 0.0 B 0.001 B 0.076 N 1.000 N -1.745 N 1.07 T -0.949 T 0.023 T 0.186 1.835 12.09 -1.34 -0.068 0.704 2.924 1.834508 1.834508 0.01 NA NA NA NA NA 8.3111334 829 6 87970650 87970650 G A exonic ZNF292 NA nonsynonymous SNV ZNF292:NM_015021:exon8:c.G7303A:p.V2435I exonic ENSG00000188994 NA nonsynonymous SNV ENSG00000188994:ENST00000339907:exon8:c.G7288A:p.V2430I,ENSG00000188994:ENST00000369577:exon8:c.G7303A:p.V2435I NA NA 6q14.3 NA NA NA NA rs61744959 0.0018 0.0018 0.002 0.00499201 0.005 NA 0.0014 NA 0.0194 0.01 NA NA NA 0.01 0.011 0.49 T 0.006 B 0.009 B 0.461 N 0.914 N 0.915 L 3.35 T -0.901 T 0.004 T 0.029 0.173 4.93 2.71 0.260 0.467 6.622 0.172849 NA 0.43 0.007408 0.002099 NA 0.007 NA 8.3109254 829 16 75276775 75276775 G A exonic BCAR1 NA nonsynonymous SNV BCAR1:NM_001170715:exon2:c.C280T:p.P94S,BCAR1:NM_001170716:exon2:c.C280T:p.P94S,BCAR1:NM_001170717:exon2:c.C226T:p.P76S,BCAR1:NM_001170718:exon2:c.C226T:p.P76S,BCAR1:NM_001170719:exon2:c.C220T:p.P74S,BCAR1:NM_014567:exon2:c.C226T:p.P76S,BCAR1:NM_001170714:exon3:c.C364T:p.P122S exonic ENSG00000050820 NA nonsynonymous SNV ENSG00000050820:ENST00000162330:exon2:c.C226T:p.P76S,ENSG00000050820:ENST00000393420:exon2:c.C226T:p.P76S,ENSG00000050820:ENST00000393422:exon2:c.C280T:p.P94S,ENSG00000050820:ENST00000420641:exon2:c.C280T:p.P94S,ENSG00000050820:ENST00000538440:exon2:c.C226T:p.P76S,ENSG00000050820:ENST00000542031:exon2:c.C220T:p.P74S,ENSG00000050820:ENST00000546196:exon2:c.C139T:p.P47S,ENSG00000050820:ENST00000561970:exon2:c.C139T:p.P47S,ENSG00000050820:ENST00000563323:exon2:c.C139T:p.P47S,ENSG00000050820:ENST00000564028:exon2:c.C139T:p.P47S,ENSG00000050820:ENST00000566465:exon2:c.C139T:p.P47S,ENSG00000050820:ENST00000567215:exon2:c.C139T:p.P47S,ENSG00000050820:ENST00000568864:exon2:c.C139T:p.P47S,ENSG00000050820:ENST00000569006:exon2:c.C139T:p.P47S,ENSG00000050820:ENST00000418647:exon3:c.C364T:p.P122S NA NA 16q23.1 NA NA NA NA rs1035539 0.6 0.6 0.515 0.59385 0.6769 0.629 0.7622 0.3427 0.6922 0.68 0.6 0.73 0.39 0.6795 0.73 0.5 T 0.008 B 0.007 B 0.318 N 0.005 P 1.1 L 0.51 T -0.944 T 0.000 T 0.256 0.047 4.26 3.99 1.200 3.618 9.914 0.047302 NA 0.44 0.666162 0.402917 ID=COSM1563498,COSM1563499,COSM1563497;OCCURENCE=1(large_intestine) 0.384 NA 8.3107714 829 16 89662990 89662990 T C exonic CPNE7 NA synonymous SNV CPNE7:NM_153636:exon15:c.T1638C:p.G546G,CPNE7:NM_014427:exon17:c.T1863C:p.G621G exonic ENSG00000178773 NA nonsynonymous SNV ENSG00000178773:ENST00000526232:exon3:c.T221C:p.V74A NA NA 16q24.3 NA NA NA NA rs694285 0.46 0.46 0.415 0.472045 0.1948 0.8333 0.3963 0.5658 0.3119 0.21 0.83 0.35 0.53 0.3098 0.83 . . . . . . . . 1.000 P . . . . -1.019 T 0.000 T . 0.297 5.609 -2.66 -0.392 -1.151 5.955 0.297052 NA NA 0.185668 0.484745 ID=COSM1380543;OCCURENCE=1(large_intestine) 0.514 NA 8.309732 829 4 1330759 1330759 T C exonic MAEA NA synonymous SNV MAEA:NM_005882:exon6:c.T753C:p.A251A,MAEA:NM_001017405:exon7:c.T876C:p.A292A exonic ENSG00000090316 NA nonsynonymous SNV ENSG00000090316:ENST00000509531:exon5:c.T676C:p.W226R,ENSG00000090316:ENST00000514708:exon5:c.T676C:p.W226R,ENSG00000090316:ENST00000503653:exon6:c.T799C:p.W267R NA NA 4p16.3 NA NA NA NA rs1128427 0.62 0.62 0.585 0.613219 0.5527 0.5317 0.696 0.7746 0.4826 0.57 0.55 0.66 0.75 0.577 0.75 0.05 D 0.0 B 0.001 B . . 0.000 P . . 1.09 T -0.970 T 0.000 T . 1.014 9.142 -11.4 -2.047 -1.294 7.428 1.014063 NA 0.13 0.560698 0.748298 NA 0.652 NA 8.309602 829 5 90449154 90449154 G A exonic GPR98 NA synonymous SNV GPR98:NM_032119:exon89:c.G18741A:p.G6247G exonic ENSG00000164199 NA synonymous SNV ENSG00000164199:ENST00000425867:exon25:c.G5724A:p.G1908G,ENSG00000164199:ENST00000405460:exon89:c.G18741A:p.G6247G Score=422;Name=lod=69 NA 5q14.3 Score=880;Name=V$COUP_01 NA NA NA rs13158963 0.14 0.14 0.141 0.138179 0.1213 0.122 0.0865 0.1475 0.1963 0.12 0.15 0.11 0.17 0.1275 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.224424 NA NA 0.108473 0.137276 NA 0.174 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039556.1|RCV000125290.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.3093936 829 19 37039069 37039069 A C exonic ZNF529 NA nonsynonymous SNV ZNF529:NM_001145650:exon5:c.T337G:p.L113V,ZNF529:NM_020951:exon5:c.T391G:p.L131V,ZNF529:NM_001145649:exon6:c.T391G:p.L131V exonic ENSG00000186020 NA nonsynonymous SNV ENSG00000186020:ENST00000586115:exon4:c.T190G:p.L64V,ENSG00000186020:ENST00000591340:exon5:c.T391G:p.L131V,ENSG00000186020:ENST00000334116:exon6:c.T76G:p.L26V NA NA 19q13.12 NA NA NA NA rs2912444 0.64 0.64 0.655 0.651558 0.6948 0.4226 0.5735 0.8185 0.6728 0.69 0.42 0.6 0.85 0.6472 0.85 0.39 T . . . . . . 1.000 P . . . . -1.012 T 0.000 T 0.021 -0.335 2.411 -7.66 -1.556 -1.182 2.060 -0.335375 NA 0.52 0.682462 0.808784 NA 0.601 NA 8.3088714 829 20 10394046 10394046 G A exonic MKKS NA synonymous SNV MKKS:NM_018848:exon3:c.C117T:p.P39P,MKKS:NM_170784:exon3:c.C117T:p.P39P exonic ENSG00000125863 NA synonymous SNV ENSG00000125863:ENST00000347364:exon3:c.C117T:p.P39P,ENSG00000125863:ENST00000399054:exon3:c.C117T:p.P39P NA NA 20p12.2 Score=796;Name=V$ARP1_01 NA Name=5 NA rs16991547 0.2 0.2 0.202 0.238419 0.0895 0.2579 0.1268 0.3744 0.2669 0.09 0.24 0.14 0.38 0.1569 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434193 NA NA 0.112674 0.30867 ID=COSM149138;OCCURENCE=1(stomach) 0.174 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Bardet-Biedl_syndrome|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000020859.2|RCV000132693.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1363:C0752166:209900:ORPHA110:5619004|. 8.3075926 829 12 51237816 51237816 G A exonic TMPRSS12 NA nonsynonymous SNV TMPRSS12:NM_182559:exon2:c.G379A:p.A127T exonic ENSG00000186452 NA nonsynonymous SNV ENSG00000186452:ENST00000398458:exon2:c.G379A:p.A127T,ENSG00000186452:ENST00000551456:exon2:c.G379A:p.A127T NA NA 12q13.12 NA NA NA NA rs861204 0.2 0.2 0.183 0.168331 0.3519 0.0218 0.1974 0.1301 0.1616 0.37 0.02 0.22 0.14 0.3395 0.37 0.44 T 0.108 B 0.041 B 0.019 N 1.000 P 0.03 N 0.23 T -1.097 T 0.000 T 0.06 -0.629 1.214 -10.7 -5.489 -2.724 2.811 -0.628931 NA 0.57 0.336069 0.165279 NA 0.312 NA 8.3058644 829 9 123780005 123780005 G A exonic C5 NA synonymous SNV C5:NM_001735:exon13:c.C1632T:p.Y544Y exonic ENSG00000106804 NA synonymous SNV ENSG00000106804:ENST00000223642:exon13:c.C1632T:p.Y544Y Score=463;Name=lod=102 NA 9q33.2 Score=771;Name=V$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 830 2 88825965 88825965 G A exonic TEX37 NA nonsynonymous SNV TEX37:NM_152670:exon3:c.G70A:p.D24N exonic ENSG00000172073 NA nonsynonymous SNV ENSG00000172073:ENST00000303254:exon3:c.G70A:p.D24N NA NA 2p11.2 NA NA NA NA rs35750657 0.01 0.01 0.021 0.0165735 0.008 NA 0.0058 0.0522 0.002 0.01 NA 0.0028 0.05 0.0106 0.05 0.11 T 0.35 B 0.045 B 0.063 N 1.000 N 0.695 N 0.37 T -1.100 T 0.014 T 0.009 1.08 9.408 1.09 0.226 1.523 4.253 1.079808 NA 0.19 0.01 0.042896 NA 0.029 NA 8.3047334 830 9 7103816 7103816 C T exonic KDM4C NA synonymous SNV KDM4C:NM_001146694:exon18:c.C2556T:p.D852D,KDM4C:NM_015061:exon18:c.C2556T:p.D852D exonic ENSG00000107077 NA synonymous SNV ENSG00000107077:ENST00000420847:exon5:c.C588T:p.D196D,ENSG00000107077:ENST00000428870:exon11:c.C1617T:p.D539D,ENSG00000107077:ENST00000442236:exon16:c.C1791T:p.D597D,ENSG00000107077:ENST00000381306:exon18:c.C2556T:p.D852D,ENSG00000107077:ENST00000381309:exon18:c.C2556T:p.D852D Score=419;Name=lod=67 NA 9p24.1 Score=870;Name=V$SRF_C Name=KAP1,c-Fos,SETDB1 Name=66 NA rs3763651 0.6 0.6 0.581 0.572085 0.4225 0.7143 0.634 0.621 0.4693 0.44 0.77 0.61 0.64 0.5079 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 -0.987749 NA NA 0.433953 0.603495 NA 0.522 NA 8.3023136 830 7 13978809 13978809 T C exonic ETV1 NA nonsynonymous SNV ETV1:NM_001163151:exon2:c.A124G:p.S42G,ETV1:NM_001163150:exon3:c.A178G:p.S60G,ETV1:NM_001163152:exon3:c.A178G:p.S60G,ETV1:NM_001163149:exon5:c.A244G:p.S82G,ETV1:NM_001163147:exon6:c.A298G:p.S100G,ETV1:NM_001163148:exon6:c.A244G:p.S82G,ETV1:NM_004956:exon7:c.A298G:p.S100G exonic ENSG00000006468 NA nonsynonymous SNV ENSG00000006468:ENST00000420159:exon2:c.A124G:p.S42G,ENSG00000006468:ENST00000438956:exon2:c.A124G:p.S42G,ENSG00000006468:ENST00000399357:exon3:c.A178G:p.S60G,ENSG00000006468:ENST00000403527:exon3:c.A178G:p.S60G,ENSG00000006468:ENST00000443608:exon3:c.A178G:p.S60G,ENSG00000006468:ENST00000403685:exon5:c.A244G:p.S82G,ENSG00000006468:ENST00000405358:exon5:c.A340G:p.S114G,ENSG00000006468:ENST00000242066:exon6:c.A244G:p.S82G,ENSG00000006468:ENST00000343495:exon6:c.A244G:p.S82G,ENSG00000006468:ENST00000405192:exon6:c.A298G:p.S100G,ENSG00000006468:ENST00000405218:exon6:c.A298G:p.S100G,ENSG00000006468:ENST00000421381:exon6:c.A298G:p.S100G,ENSG00000006468:ENST00000430479:exon7:c.A298G:p.S100G,ENSG00000006468:ENST00000443137:exon7:c.A298G:p.S100G Score=691;Name=lod=856 NA 7p21.2 NA NA NA NA rs9639168 0.32 0.32 0.281 0.319289 0.3439 0.4187 0.3458 0.18 0.3609 0.32 0.37 0.39 0.2 0.35 0.39 0.6 T 0.0 B 0.0 B 0.000 N 1.000 P 0.49 N 1.96 T -0.907 T 0.000 T 0.387 1.242 10.04 4.57 0.791 0.877 8.696 1.242238 1.242238 0.34 0.337646 0.194697 ID=COSM1582995,COSM1582996;OCCURENCE=1(meninges) 0.319 NA 8.3017874 830 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 830 4 57796639 57796639 T C exonic REST NA nonsynonymous SNV REST:NM_001193508:exon4:c.T1615C:p.S539P,REST:NM_005612:exon4:c.T1615C:p.S539P exonic ENSG00000084093 NA nonsynonymous SNV ENSG00000084093:ENST00000309042:exon4:c.T1615C:p.S539P NA NA 4q12 NA NA NA NA rs61748754 0.0046 0.0046 0.004 0.00259585 0.0099 NA 0.0029 NA 0.001 0.01 NA NA 0.002 0.008 0.017 0.4 T 0.0 B 0.0 B 0.185 N 1.000 N -2.125 N 0.84 T -1.025 T 0.014 T 0.024 -2.347 0.004 3.75 0.677 0.413 5.161 -2.346904 NA 0.59 0.016744 0.002271 NA 0.007 NA 8.2986894 830 7 157931003 157931003 C T exonic PTPRN2 NA nonsynonymous SNV PTPRN2:NM_130842:exon6:c.G1064A:p.R355H,PTPRN2:NM_002847:exon7:c.G1115A:p.R372H,PTPRN2:NM_130843:exon7:c.G1115A:p.R372H exonic ENSG00000155093 NA nonsynonymous SNV ENSG00000155093:ENST00000389416:exon6:c.G1064A:p.R355H,ENSG00000155093:ENST00000409483:exon6:c.G1001A:p.R334H,ENSG00000155093:ENST00000389413:exon7:c.G1115A:p.R372H,ENSG00000155093:ENST00000389418:exon7:c.G1115A:p.R372H,ENSG00000155093:ENST00000404321:exon7:c.G1184A:p.R395H NA NA 7q36.3 NA NA NA NA rs77347072 0.01 0.01 0.005 0.00319489 0.0099 NA 0.0014 0.0008 0.0041 0.02 NA 0.0028 NA 0.0091 0.02 0.24 T 0.0 B 0.0 B . . 1.000 N 0 N 4.04 T -0.918 T 0.003 T 0.025 0.212 5.141 -1.34 -0.472 -1.616 8.014 0.211562 NA 0.18 0.01593 0.004539 NA 0.007 NA 8.2984034 830 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=HA-E2F1,Pol2(phosphoS2),FOSL2,Pol2,E2F6_(H-50),E2F6,HDAC2_(SC-6296),TCF12,Ini1,eGFP-JunB,c-Jun,TAF1,E2F1,HEY1,BATF,c-Myc,eGFP-JunD,E2F4,Sin3Ak-20,FOSL1_(SC-183),PU.1,eGFP-FOS,AP-2alpha,NANOG_(SC-33759),c-Fos,AP-2gamma,TBP,JunD 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 830 2 234602202 234602202 A C exonic UGT1A6 NA nonsynonymous SNV UGT1A6:NM_001072:exon1:c.A552C:p.R184S exonic ENSG00000167165 NA nonsynonymous SNV ENSG00000167165:ENST00000305139:exon1:c.A552C:p.R184S,ENSG00000167165:ENST00000441351:exon2:c.A552C:p.R184S NA NA 2q37.1 NA NA Name=3 NA rs1105879 0.3 0.3 0.312 0.324681 0.333 0.2242 0.3012 0.3018 0.4673 0.33 0.24 0.32 0.32 0.3457 0.36 0.11 T 0.038 B 0.103 B . . 0.999 P 1.4 L 3.34 T -0.956 T 0.000 T 0.214 1.598 11.3 -3.31 -0.435 -0.753 9.964 1.597632 1.597632 0.01 0.357674 0.305266 NA 0.442 NA 8.2969594 830 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 830 9 104133628 104133628 C T exonic BAAT NA nonsynonymous SNV BAAT:NM_001127610:exon2:c.G59A:p.R20Q,BAAT:NM_001701:exon2:c.G59A:p.R20Q exonic ENSG00000136881 NA nonsynonymous SNV ENSG00000136881:ENST00000395051:exon1:c.G59A:p.R20Q,ENSG00000136881:ENST00000259407:exon2:c.G59A:p.R20Q NA NA 9q31.1 NA NA NA NA rs1572983 0.62 0.62 0.61 0.562899 0.6948 0.63 0.6254 0.4508 0.4652 0.7 0.61 0.62 0.49 0.6461 0.7 0.34 T 0.048 B 0.036 B 0.188 N 1.000 P 1.65 L -0.49 T -0.976 T 0.000 T 0.077 0.51 6.765 -3.93 -1.724 -2.055 12.752 0.509984 NA 0.19 0.695814 0.505674 NA 0.522 NA 8.2966194 830 7 21901566 21901566 T C exonic DNAH11 NA synonymous SNV DNAH11:NM_001277115:exon69:c.T11298C:p.H3766H exonic ENSG00000105877 NA synonymous SNV ENSG00000105877:ENST00000607413:exon4:c.T408C:p.H136H,ENSG00000105877:ENST00000409508:exon69:c.T11298C:p.H3766H,ENSG00000105877:ENST00000328843:exon70:c.T11319C:p.H3773H Score=385;Name=lod=49 NA 7p15.3 NA NA NA NA rs4722067 0.65 0.65 0.676 0.634385 0.8211 0.5367 0.6455 0.5756 0.6145 0.8 0.51 0.63 0.61 0.7255 0.82 . . . . . . . . 0.001 P . . . . -1.031 T 0.000 T . -1.096 0.147 -3.01 -1.071 -2.464 15.706 -1.096077 NA NA 0.824484 0.619736 NA 0.703 NA 8.2955826 830 10 99205731 99205731 A G exonic EXOSC1 NA synonymous SNV EXOSC1:NM_016046:exon1:c.T12C:p.P4P exonic ENSG00000171311 NA synonymous SNV ENSG00000171311:ENST00000370885:exon1:c.T12C:p.P4P,ENSG00000171311:ENST00000370886:exon1:c.T12C:p.P4P,ENSG00000171311:ENST00000370902:exon1:c.T12C:p.P4P,ENSG00000171311:ENST00000485122:exon1:c.T12C:p.P4P Score=397;Name=lod=55 NA 10q24.1 NA Name=Max,TCF4,YY1_(C-20),c-Myc,SP1,IRF1,Sin3Ak-20,SIX5,Mxi1_(bHLH),NRSF,TBP,TR4,YY1,c-Fos,NF-YB,CEBPB,PU.1,GTF2F1_(RAP-74),USF2,Pol2,USF-1,CHD2_(N-1250),HA-E2F1,TAF7_(SQ-8),CTCF,CTCF_(C-20),RFX5_(N-494),IRF3,TAF1,NFKB,Pol2-4H8,HEY1,NF-YA,ELF1_(SC-631) Name=148 NA rs4919098 0.11 0.11 0.096 0.095647 0.1223 0.0764 0.111 0.0938 0.0798 0.13 0.07 0.11 0.12 0.1145 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.411204 NA NA 0.134535 0.109396 NA 0.087 NA 8.2953316 830 2 101186088 101186088 C T exonic PDCL3 NA synonymous SNV PDCL3:NM_024065:exon4:c.C273T:p.F91F exonic ENSG00000115539 NA synonymous SNV ENSG00000115539:ENST00000264254:exon4:c.C273T:p.F91F,ENSG00000115539:ENST00000416255:exon4:c.C123T:p.F41F Score=644;Name=lod=552 NA 2q11.2 NA NA NA NA rs1052117 0.61 0.61 0.627 0.653155 0.4404 0.9772 0.4236 0.6286 0.7342 0.43 0.98 0.42 0.61 0.5129 0.98 . . . . . . . . 0.000 P . . . . -1.023 T 0.000 T . 1.159 9.72 4.59 0.705 3.013 9.310 1.159365 NA NA 0.418101 0.6069 NA 0.471 NA 8.2952656 830 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=USF-1,Pol2,E2F6_(H-50),E2F6,Pol2-4H8,TAF1,Nrf1,c-Myc,YY1_(C-20),Max 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 830 11 113222885 113222885 A T exonic TTC12 NA nonsynonymous SNV TTC12:NM_017868:exon16:c.A1402T:p.M468L exonic ENSG00000149292 NA nonsynonymous SNV ENSG00000149292:ENST00000483239:exon15:c.A1420T:p.M474L,ENSG00000149292:ENST00000314756:exon16:c.A1402T:p.M468L,ENSG00000149292:ENST00000393020:exon16:c.A1402T:p.M468L,ENSG00000149292:ENST00000494714:exon16:c.A1402T:p.M468L,ENSG00000149292:ENST00000529221:exon16:c.A1402T:p.M468L Score=278;Name=lod=18 NA 11q23.2 NA NA NA NA rs35852218 0.0041 0.0041 0.003 0.00339457 0.0099 NA 0.0043 NA 0.0041 0.01 NA 0.0028 NA 0.0104 0.018 0.69 T 0.0 B 0.001 B 0.008 N 0.819 N 1.03 L 1.17 T -1.026 T 0.028 T 0.283 -0.327 2.448 1.24 0.365 0.621 11.145 -0.32697 NA 0.47 0.017807 0.004543 NA NA NA 8.2952264 831 2 137917922 137917922 T A exonic THSD7B NA unknown UNKNOWN exonic ENSG00000144229 NA nonsynonymous SNV ENSG00000144229:ENST00000272643:exon5:c.T1509A:p.D503E,ENSG00000144229:ENST00000413152:exon5:c.T1416A:p.D472E,ENSG00000144229:ENST00000409968:exon6:c.T1509A:p.D503E Score=452;Name=lod=92 NA 2q22.1 NA NA NA NA rs4954474 0.28 0.28 0.279 0.282149 0.4861 0.1419 0.3501 0.1437 0.3558 0.47 0.12 0.34 0.15 0.406 0.48 0.61 T 0.003 B 0.014 B 0.000 N 0.000 P 0.995 L 0.12 T -0.912 T 0.000 T 0.087 1.562 11.18 2.25 0.147 1.121 5.406 1.56185 1.56185 0.19 0.480138 0.20146 NA 0.225 NA 8.2944287 831 3 186358366 186358366 A C exonic FETUB NA synonymous SNV FETUB:NM_014375:exon1:c.A117C:p.S39S exonic ENSG00000090512 NA synonymous SNV ENSG00000090512:ENST00000265029:exon1:c.A117C:p.S39S,ENSG00000090512:ENST00000382134:exon1:c.A117C:p.S39S,ENSG00000090512:ENST00000382136:exon1:c.A117C:p.S39S,ENSG00000090512:ENST00000420570:exon1:c.A117C:p.S39S,ENSG00000090512:ENST00000435961:exon1:c.A117C:p.S39S,ENSG00000090512:ENST00000450521:exon2:c.A117C:p.S39S NA NA 3q27.3 Score=769;Name=V$TCF11MAFG_01 Name=FOSL2,STAT3 Name=44 NA rs1047115 0.13 0.13 0.123 0.115815 0.1233 0.12 0.0922 0.1702 0.047 0.13 0.09 0.1 0.18 0.1146 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.738503 NA NA 0.134884 0.151838 NA 0.116 NA 8.2938826 831 5 96116808 96116808 G A exonic ERAP1 NA synonymous SNV ERAP1:NM_001040458:exon17:c.C2542T:p.L848L,ERAP1:NM_001198541:exon17:c.C2542T:p.L848L,ERAP1:NM_016442:exon17:c.C2542T:p.L848L exonic ENSG00000164307 NA synonymous SNV ENSG00000164307:ENST00000296754:exon17:c.C2542T:p.L848L,ENSG00000164307:ENST00000443439:exon17:c.C2542T:p.L848L NA NA 5q15 Score=829;Name=V$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 831 6 160969629 160969629 A G exonic LPA NA nonsynonymous SNV LPA:NM_005577:exon32:c.T5036C:p.M1679T exonic ENSG00000198670 NA nonsynonymous SNV ENSG00000198670:ENST00000316300:exon31:c.T5036C:p.M1679T,ENSG00000198670:ENST00000447678:exon32:c.T5036C:p.M1679T Score=383;Name=lod=48 NA 6q25.3 Score=749;Name=V$PPARG_01 NA NA NA rs1801693 0.65 0.65 0.676 0.648163 0.7038 0.4494 0.5533 0.8873 0.5399 0.7 0.45 0.57 0.88 0.6528 0.88 1 T 0.053 B 0.051 B . . 1.000 P -1.625 N -0.08 T -0.983 T 0.018 T 0.019 -3.714 0.001 0.732 -0.620 1.344 10.760 -3.714428 NA 1 0.685349 0.865184 NA 0.652 NA 8.2913844 831 19 7573297 7573297 T C exonic C19orf45 NA nonsynonymous SNV C19orf45:NM_198534:exon9:c.T1499C:p.L500P exonic ENSG00000198723 NA nonsynonymous SNV ENSG00000198723:ENST00000361664:exon9:c.T1499C:p.L500P NA NA 19p13.2 Score=812;Name=V$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 831 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 831 X 150349871 150349871 A G exonic GPR50 NA nonsynonymous SNV GPR50:NM_004224:exon2:c.A1816G:p.I606V exonic ENSG00000102195 NA nonsynonymous SNV ENSG00000102195:ENST00000218316:exon2:c.A1816G:p.I606V NA NA Xq28 NA NA NA NA rs13440581 0.31 0.31 0.32432 NA NA NA NA NA NA 0.57 0.01 0.3 0.27 0.4595 0.58 0.08 T 0.01 B 0.002 B 0.041 N 1.000 P 0.695 N -0.47 T -0.941 T 0.000 T 0.074 0.375 6.036 2.13 0.493 -1.224 4.235 0.37508 NA 0.01 0.583446 0.271316 NA 0.29 NA 8.2903874 831 11 7656809 7656809 G A exonic PPFIBP2 NA synonymous SNV PPFIBP2:NM_001256569:exon10:c.G792A:p.P264P,PPFIBP2:NM_001256568:exon11:c.G885A:p.P295P,PPFIBP2:NM_003621:exon14:c.G1221A:p.P407P exonic ENSG00000166387 NA synonymous SNV ENSG00000166387:ENST00000530081:exon3:c.G153A:p.P51P,ENSG00000166387:ENST00000530181:exon10:c.G792A:p.P264P,ENSG00000166387:ENST00000528883:exon11:c.G885A:p.P295P,ENSG00000166387:ENST00000533792:exon12:c.G747A:p.P249P,ENSG00000166387:ENST00000299492:exon14:c.G1221A:p.P407P NA NA 11p15.4 NA NA NA NA rs11041490 0.07 0.07 0.063 0.0503195 0.1481 0.002 0.0893 0.0045 0.0337 0.15 0.0035 0.1 0.01 0.0965 0.15 . . . . . . . . 1.000 P . . . . -1.046 T 0.000 T . 0.086 4.462 -10.8 -1.536 -1.860 0.288 0.085595 NA NA 0.1321 0.025216 NA 0.08 NA 8.2899666 831 17 38991052 38991052 T G exonic TMEM99 NA nonsynonymous SNV TMEM99:NM_001195386:exon3:c.T284G:p.L95R,TMEM99:NM_001195387:exon3:c.T284G:p.L95R,TMEM99:NM_145274:exon3:c.T284G:p.L95R exonic ENSG00000167920 NA nonsynonymous SNV ENSG00000167920:ENST00000301665:exon3:c.T284G:p.L95R,ENSG00000167920:ENST00000436612:exon3:c.T284G:p.L95R NA NA 17q21.2 NA NA NA NA rs1044806 0.09 0.09 0.086 0.108626 0.1928 0.004 0.1182 0.1248 0.1012 0.14 NA 0.11 0.1 0.1565 0.19 0 D 0.966 D 0.883 P . . 1.000 P 0 N 1.4 T -1.036 T 0.000 T 0.584 0.568 7.07 0.158 0.175 0.215 . 0.568095 NA NA 0.194357 0.11051 NA NA NA 8.2896764 831 17 7760397 7760397 G A exonic LSMD1 NA synonymous SNV LSMD1:NM_032356:exon1:c.C345T:p.F115F exonic ENSG00000183011 NA synonymous SNV ENSG00000183011:ENST00000333775:exon1:c.C345T:p.F115F,ENSG00000183011:ENST00000576384:exon1:c.C45T:p.F15F,ENSG00000183011:ENST00000335155:exon2:c.C201T:p.F67F,ENSG00000183011:ENST00000575071:exon2:c.C45T:p.F15F,ENSG00000183011:ENST00000575208:exon2:c.C45T:p.F15F,ENSG00000183011:ENST00000575771:exon2:c.C45T:p.F15F,ENSG00000183011:ENST00000576861:exon4:c.C123T:p.F41F Score=510;Name=lod=157 NA 17p13.1 NA Name=HA-E2F1,FOXA1_(SC-101058),Pol2,FOSL2,FOXA1_(C-20),CTCF,POU2F2,HDAC2_(SC-6296),CTCF_(SC-5916),Pol2-4H8,TAF1,HEY1,STAT1,Nrf1,Rad21,c-Myc,Oct-2,Max,NRSF,Mxi1_(bHLH),E2F4,Sin3Ak-20,CCNT2,CtBP2,AP-2gamma,CTCFL_(SC-98982),SMC3_(ab9263),ZNF263 Name=139 NA rs4724 0.18 0.18 0.177 0.252995 0.0924 0.2748 0.2882 0.3336 0.2618 0.08 0.23 0.24 0.25 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 1.298741 1.298741 NA 0.111163 0.292102 ID=COSM437700;OCCURENCE=1(breast),1(large_intestine) 0.181 NA 8.2891036 831 7 123599845 123599845 A T exonic SPAM1 NA nonsynonymous SNV SPAM1:NM_001174044:exon5:c.A1352T:p.D451V,SPAM1:NM_001174046:exon5:c.A1352T:p.D451V,SPAM1:NM_003117:exon5:c.A1352T:p.D451V,SPAM1:NM_153189:exon5:c.A1352T:p.D451V,SPAM1:NM_001174045:exon6:c.A1352T:p.D451V exonic ENSG00000106304 NA nonsynonymous SNV ENSG00000106304:ENST00000223028:exon5:c.A1352T:p.D451V,ENSG00000106304:ENST00000340011:exon5:c.A1352T:p.D451V,ENSG00000106304:ENST00000402183:exon5:c.A1352T:p.D451V,ENSG00000106304:ENST00000460182:exon5:c.A1352T:p.D451V,ENSG00000106304:ENST00000439500:exon6:c.A1352T:p.D451V NA NA 7q31.32 NA NA NA NA rs75168651 0.01 0.01 0.006 0.00439297 0.0149 NA 0.0072 0.0008 0.001 0.02 NA 0.01 0.002 0.0112 0.02 0.06 T 0.179 B 0.033 B 0.010 N 1.000 N 1.355 L 2.45 T -0.993 T 0.018 T 0.084 1.956 12.5 -4.83 -0.697 . 7.095 1.955958 1.955958 0.06 0.018256 0.00227 NA 0.007 NA 8.2889774 831 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 831 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 831 3 46580591 46580591 G T exonic LRRC2 NA nonsynonymous SNV LRRC2:NM_024512:exon4:c.C434A:p.A145E exonic ENSG00000163827 NA nonsynonymous SNV ENSG00000163827:ENST00000296144:exon4:c.C434A:p.A145E,ENSG00000163827:ENST00000395905:exon4:c.C434A:p.A145E NA NA 3p21.31 NA Name=CHD2_(N-1250),MEF2A,NFKB,MEF2C_(SC-13268),TBP NA NA rs17078944 0.28 0.28 0.265 0.286542 0.3718 0.2768 0.2622 0.1195 0.4519 0.37 0.28 0.24 0.15 0.3377 0.37 0.49 T 0.002 B 0.002 B 0.252 N 1.000 P 0.49 N 0.96 T -0.923 T 0.000 T 0.07 -0.351 2.344 1.79 0.654 2.517 6.035 -0.350518 NA 1 0.336512 0.148888 NA 0.254 NA 8.2873214 831 16 420179 420179 G A exonic MRPL28 NA synonymous SNV MRPL28:NM_006428:exon2:c.C40T:p.L14L exonic ENSG00000086504 NA synonymous SNV ENSG00000086504:ENST00000199706:exon2:c.C40T:p.L14L,ENSG00000086504:ENST00000389675:exon2:c.C40T:p.L14L,ENSG00000086504:ENST00000441883:exon2:c.C40T:p.L14L,ENSG00000086504:ENST00000447696:exon2:c.C40T:p.L14L,ENSG00000086504:ENST00000450882:exon2:c.C40T:p.L14L NA NA 16p13.3 Score=786;Name=V$HEN1_02 Name=Egr-1,ZBTB7A_(SC-34508),E2F6_(H-50) Name=10 NA rs11557300 0.07 0.07 0.063 0.0736821 0.1193 0.128 0.0476 0.0068 0.0798 0.11 0.1 0.05 0.01 0.1312 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722266 NA NA 0.129517 0.027151 NA 0.094 NA 8.2866496 831 19 49574125 49574125 G C exonic KCNA7 NA nonsynonymous SNV KCNA7:NM_031886:exon2:c.C566G:p.P189R exonic ENSG00000104848 NA nonsynonymous SNV ENSG00000104848:ENST00000221444:exon2:c.C566G:p.P189R NA NA 19q13.33 NA NA NA NA rs1611775 0.37 0.37 0.321 0.367212 0.328 0.3323 0.3228 0.4818 0.32 0.32 0.31 0.39 0.49 0.374 0.5 0.57 T 0.0 B 0.001 B 0.073 N 1.000 P 0.345 N -4.42 D -0.942 T 0.000 T 0.06 0.476 6.584 3.5 0.477 0.098 6.492 0.476006 NA 0.57 0.344884 0.460735 NA 0.551 NA 8.2864494 831 7 150501516 150501516 A G exonic TMEM176A NA nonsynonymous SNV TMEM176A:NM_018487:exon6:c.A622G:p.T208A exonic ENSG00000002933 NA nonsynonymous SNV ENSG00000002933:ENST00000461345:exon5:c.A445G:p.T149A,ENSG00000002933:ENST00000475536:exon5:c.A478G:p.T160A,ENSG00000002933:ENST00000004103:exon6:c.A622G:p.T208A,ENSG00000002933:ENST00000484928:exon6:c.A622G:p.T208A NA NA 7q36.1 NA NA NA NA rs9088 0.74 0.74 0.758 0.742612 0.6799 0.7599 0.6441 0.7935 0.7904 0.68 0.8 0.68 0.79 0.7 0.8 1 T 0.0 B 0.001 B 0.102 N 1.000 P -0.9 N 4.44 T -0.989 T 0.000 T 0.123 -2.285 0.004 -4.09 -1.276 -1.612 8.935 -2.285413 NA 0.63 0.667209 0.756695 NA 0.659 NA 8.2862244 831 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 831 19 501738 501738 C A exonic MADCAM1 NA nonsynonymous SNV MADCAM1:NM_130760:exon4:c.C737A:p.P246Q exonic ENSG00000099866 NA nonsynonymous SNV ENSG00000099866:ENST00000587541:exon2:c.C80A:p.P27Q,ENSG00000099866:ENST00000215637:exon4:c.C737A:p.P246Q NA NA 19p13.3 NA NA NA NA rs1063736 NA NA 0.262 NA NA NA NA NA NA NA NA NA NA 0.0481 0.13 0.14 T 0.042 B 0.038 B . . 1.000 P 0.695 N 2.83 T -0.947 T 0.014 T 0.182 0.73 7.882 -5.65 -0.874 -0.531 0.538 0.730416 NA 0.07 NA NA ID=COSM1129758;OCCURENCE=1(liver),1(prostate) 0.13 NA 8.2852334 832 1 222919895 222919895 T G exonic FAM177B NA nonsynonymous SNV FAM177B:NM_207468:exon3:c.T8G:p.I3S exonic ENSG00000197520 NA nonsynonymous SNV ENSG00000197520:ENST00000360827:exon3:c.T8G:p.I3S,ENSG00000197520:ENST00000391880:exon3:c.T8G:p.I3S,ENSG00000197520:ENST00000434700:exon3:c.T8G:p.I3S,ENSG00000197520:ENST00000445590:exon3:c.T8G:p.I3S,ENSG00000197520:ENST00000456298:exon3:c.T8G:p.I3S Score=289;Name=lod=20 NA 1q41 NA NA NA NA rs2378607 0.63 0.63 0.588 0.589257 0.6998 0.7708 0.7378 0.2375 0.6585 0.7 0.81 0.71 0.27 0.6738 0.81 0.53 T 0.006 B 0.007 B 0.036 N 1.000 P 0.69 N 1.44 T -1.007 T 0.000 T 0.277 0.475 6.577 2.3 0.167 1.053 3.742 0.474751 NA 0.08 0.676744 0.296414 NA 0.609 NA 8.2829894 832 19 55176262 55176262 A G exonic LILRB4 NA nonsynonymous SNV LILRB4:NM_001081438:exon5:c.A668G:p.D223G,LILRB4:NM_006847:exon5:c.A668G:p.D223G exonic ENSG00000186818 NA nonsynonymous SNV ENSG00000186818:ENST00000270452:exon5:c.A668G:p.D223G,ENSG00000186818:ENST00000391733:exon5:c.A668G:p.D223G,ENSG00000186818:ENST00000391734:exon5:c.A668G:p.D223G,ENSG00000186818:ENST00000430952:exon5:c.A668G:p.D223G,ENSG00000186818:ENST00000434286:exon5:c.A668G:p.D223G,ENSG00000186818:ENST00000391736:exon7:c.A668G:p.D223G NA NA 19q13.42 NA NA NA NA rs731170 0.65 0.65 0.638 0.61901 0.6918 0.7589 0.6282 0.3949 0.6963 0.71 0.79 0.61 0.41 0.6687 0.79 0.9 T 0.0 B 0.001 B . . 1.000 P 0 N 7.25 T -0.974 T 0.000 T 0.025 -2.267 0.004 -4.13 -2.038 -2.232 1.552 -2.26737 NA 1 0.691163 0.440082 NA 0.572 NA 8.2816704 832 2 215632255 215632255 C T exonic BARD1 NA nonsynonymous SNV BARD1:NM_000465:exon6:c.G1519A:p.V507M exonic ENSG00000138376 NA nonsynonymous SNV ENSG00000138376:ENST00000449967:exon5:c.G1087A:p.V363M,ENSG00000138376:ENST00000260947:exon6:c.G1519A:p.V507M NA NA 2q35 NA NA NA NA rs2070094 0.28 0.28 0.254 0.366214 0.3976 0.3433 0.3069 0.3608 0.407 0.3 0.3 0.3 0.23 0.3783 0.3 0.17 T 0.058 B 0.019 B 0.246 N 0.794 P 1.885 L -0.17 T -1.097 T 0.000 T 0.018 1.111 9.53 -11.3 -3.328 -5.264 2.061 1.110597 NA 0.12 0.275814 0.290059 NA NA NA 8.2816194 832 1 171751236 171751236 T C exonic METTL13 NA synonymous SNV METTL13:NM_001007239:exon1:c.T129C:p.H43H,METTL13:NM_015935:exon1:c.T129C:p.H43H exonic ENSG00000010165 NA synonymous SNV ENSG00000010165:ENST00000361735:exon1:c.T129C:p.H43H,ENSG00000010165:ENST00000367737:exon1:c.T129C:p.H43H,ENSG00000010165:ENST00000458517:exon2:c.T126C:p.H42H Score=522;Name=lod=177 NA 1q24.3 Score=785;Name=V$POU3F2_01 Name=HEY1 Name=9 NA rs2294720 0.57 0.57 0.573 0.533746 0.4443 0.6577 0.4395 0.73 0.2996 0.46 0.66 0.45 0.74 0.4706 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.708239 1.708239 NA 0.470465 0.699047 ID=COSM146685;OCCURENCE=1(stomach) 0.63 NA 8.2813016 832 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 832 3 38080952 38080952 T G exonic DLEC1 NA nonsynonymous SNV DLEC1:NM_007335:exon1:c.T236G:p.L79R,DLEC1:NM_007337:exon1:c.T236G:p.L79R exonic ENSG00000008226 NA nonsynonymous SNV ENSG00000008226:ENST00000308059:exon1:c.T236G:p.L79R,ENSG00000008226:ENST00000346219:exon1:c.T236G:p.L79R,ENSG00000008226:ENST00000452631:exon1:c.T236G:p.L79R NA NA 3p22.2 NA Name=GABP,SUZ12 Name=15 NA rs7625806 0.45 0.45 0.414 0.450879 0.3429 0.6062 0.4092 0.5658 0.2761 0.33 0.57 0.39 0.54 0.3706 0.57 0.28 T 0.006 B 0.017 B 0.892 N 1.000 P 1.78 L 3.54 T -0.982 T 0.000 T 0.026 1.381 10.55 0.309 -0.457 0.147 2.353 1.381461 1.381461 0.07 0.340408 0.524651 ID=COSM446432,COSM446431;OCCURENCE=1(breast) 0.435 NA 8.2794254 832 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 832 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 832 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 832 3 108072298 108072298 T C exonic HHLA2 NA nonsynonymous SNV HHLA2:NM_007072:exon4:c.T89C:p.I30T exonic ENSG00000114455 NA nonsynonymous SNV ENSG00000114455:ENST00000467761:exon3:c.T89C:p.I30T,ENSG00000114455:ENST00000357759:exon4:c.T89C:p.I30T,ENSG00000114455:ENST00000463019:exon4:c.T89C:p.I30T,ENSG00000114455:ENST00000482430:exon4:c.T89C:p.I30T,ENSG00000114455:ENST00000489514:exon4:c.T89C:p.I30T,ENSG00000114455:ENST00000462629:exon5:c.T89C:p.I30T,ENSG00000114455:ENST00000491820:exon5:c.T89C:p.I30T NA NA 3q13.13 NA NA NA NA rs6779254 0.56 0.56 0.559 0.590455 0.6839 0.2093 0.5965 0.7867 0.6176 0.67 0.17 0.64 0.77 0.6942 0.77 0.07 T 0.0 B 0.0 B 0.066 N 1.000 P -0.345 N 5.01 T -0.965 T 0.000 T 0.314 -0.775 0.745 -7.67 -1.645 -2.268 1.600 -0.775062 NA 0.07 0.67678 0.765432 NA 0.645 NA 8.2784534 832 2 235950284 235950284 A C exonic SH3BP4 NA synonymous SNV SH3BP4:NM_014521:exon4:c.A871C:p.R291R exonic ENSG00000130147 NA synonymous SNV ENSG00000130147:ENST00000344528:exon4:c.A871C:p.R291R,ENSG00000130147:ENST00000392011:exon4:c.A871C:p.R291R,ENSG00000130147:ENST00000409212:exon4:c.A871C:p.R291R Score=529;Name=lod=188 NA 2q37.2 Score=948;Name=V$CETS1P54_01 Name=NRSF NA NA rs3731648 0.26 0.26 0.229 0.298323 0.0915 0.4077 0.3256 0.2867 0.3947 0.1 0.44 0.25 0.29 0.1938 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546397 NA NA 0.103256 0.253294 ID=COSM149107;OCCURENCE=1(stomach) 0.275 NA 8.2781106 832 8 143413136 143413136 C T exonic TSNARE1 NA nonsynonymous SNV TSNARE1:NM_145003:exon5:c.G802A:p.V268I exonic ENSG00000171045 NA nonsynonymous SNV ENSG00000171045:ENST00000519651:exon3:c.G145A:p.V49I,ENSG00000171045:ENST00000520166:exon4:c.G802A:p.V268I,ENSG00000171045:ENST00000307180:exon5:c.G802A:p.V268I,ENSG00000171045:ENST00000524325:exon5:c.G802A:p.V268I Score=243;Name=lod=13 NA 8q24.3 NA NA NA NA rs10435683 0.37 0.37 0.406 0.43131 0.3231 0.4742 0.4424 0.5401 0.3436 0.28 0.47 0.38 0.39 0.4115 0.51 0.85 T 0.047 B 0.013 B 0.118 N 1.000 P 0.49 N 1.75 T -0.921 T 0.000 T 0.205 -0.04 3.809 2.41 0.257 0.430 6.554 -0.040197 NA 1 0.322326 0.504995 ID=COSM150556;OCCURENCE=1(stomach) 0.449 NA 8.2764074 832 1 27688633 27688633 G A exonic MAP3K6 NA nonsynonymous SNV MAP3K6:NM_004672:exon9:c.C1364T:p.T455I exonic ENSG00000142733 NA nonsynonymous SNV ENSG00000142733:ENST00000374040:exon8:c.C1340T:p.T447I,ENSG00000142733:ENST00000357582:exon9:c.C1364T:p.T455I,ENSG00000142733:ENST00000493901:exon10:c.C1364T:p.T455I NA NA 1p36.11 Score=840;Name=V$TAL1BETAE47_01 NA NA NA rs1138294 0.33 0.33 0.303 0.310503 0.3777 0.5397 0.2147 0.0983 0.3599 0.39 0.49 0.23 0.12 0.3293 0.49 0.17 T 0.0 B 0.001 B . . 1.000 P 0.6 N 2.96 T -0.927 T 0.000 T 0.21 1.172 9.768 -1.12 -0.091 -1.184 0.626 1.171945 NA 0.3 0.350698 0.147299 NA 0.188 NA 8.2756354 833 4 4199634 4199634 A T exonic OTOP1 NA nonsynonymous SNV OTOP1:NM_177998:exon5:c.T927A:p.D309E exonic ENSG00000163982 NA nonsynonymous SNV ENSG00000163982:ENST00000296358:exon5:c.T927A:p.D309E NA NA 4p16.3 NA NA NA NA rs2916414 0.62 0.62 0.613 0.66234 0.667 0.6647 0.5591 0.587 0.8303 0.67 0.64 0.56 0.57 0.6836 0.71 1 T 0.108 B 0.076 B 0.040 N 1.000 P 0.14 N 2.05 T -1.005 T 0.000 T 0.068 -1.932 0.008 -5.33 -1.054 -2.103 4.277 -1.932489 NA 1 0.707907 0.603495 NA 0.362 NA 8.2748264 833 9 133346226 133346226 C T exonic ASS1 NA synonymous SNV ASS1:NM_054012:exon7:c.C501T:p.H167H,ASS1:NM_000050:exon8:c.C501T:p.H167H exonic ENSG00000130707 NA synonymous SNV ENSG00000130707:ENST00000443588:exon5:c.C444T:p.H148H,ENSG00000130707:ENST00000352480:exon7:c.C501T:p.H167H,ENSG00000130707:ENST00000422569:exon7:c.C501T:p.H167H,ENSG00000130707:ENST00000372393:exon8:c.C501T:p.H167H,ENSG00000130707:ENST00000372394:exon8:c.C501T:p.H167H Score=423;Name=lod=70 NA 9q34.11 Score=892;Name=V$NFKAPPAB50_01 NA NA NA rs10901072 0.17 0.17 0.103 0.107228 0.1511 0.0377 0.0865 0.112 0.1421 0.21 0.09 0.14 0.24 0.1148 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.477443 NA NA 0.126163 0.119837 NA 0.217 CLINSIG=other|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000078021.3|RCV000123706.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.2746036 833 8 120847188 120847188 T C exonic DSCC1 NA nonsynonymous SNV DSCC1:NM_024094:exon9:c.A1127G:p.H376R exonic ENSG00000136982 NA nonsynonymous SNV ENSG00000136982:ENST00000313655:exon9:c.A1127G:p.H376R Score=579;Name=lod=301 NA 8q24.12 NA NA NA NA rs1055130 0.65 0.65 0.642 0.659345 0.6769 0.4534 0.7291 0.7663 0.6595 0.69 0.45 0.72 0.76 0.685 0.77 1 T 0.0 B 0.0 B 0.000 N 0.995 P -2.135 N 3.18 T -0.981 T 0.000 T 0.061 0.198 5.066 4.22 0.680 3.198 12.007 0.197817 NA 1 0.697812 0.768498 ID=COSM150524;OCCURENCE=1(stomach) 0.79 NA 8.2736214 833 3 50222926 50222926 T A exonic SEMA3F NA nonsynonymous SNV SEMA3F:NM_004186:exon14:c.T1507A:p.L503M exonic ENSG00000001617 NA nonsynonymous SNV ENSG00000001617:ENST00000413852:exon13:c.T1210A:p.L404M,ENSG00000001617:ENST00000434342:exon13:c.T1414A:p.L472M,ENSG00000001617:ENST00000002829:exon14:c.T1507A:p.L503M Score=640;Name=lod=533 NA 3p21.31 NA Name=GATA-2 NA NA rs1046956 0.76 0.76 0.738 0.765974 0.671 0.9871 0.7478 0.587 0.8906 0.69 1 0.74 0.63 0.738 1 1 T 0.013 B 0.012 B 0.013 N 1.000 P 0.025 N 2.8 T -0.968 T 0.000 T 0.051 -0.53 1.585 0.291 -0.356 1.139 3.531 -0.530459 NA 0.37 0.65093 0.600318 NA 0.725 NA 8.2734034 833 19 9213079 9213079 A C exonic OR7G2 NA nonsynonymous SNV OR7G2:NM_001005193:exon1:c.T904G:p.F302V exonic ENSG00000170923 NA nonsynonymous SNV ENSG00000170923:ENST00000305456:exon1:c.T904G:p.F302V NA NA 19p13.2 NA NA NA NA rs4804401 0.35 0.35 0.343 0.332468 0.3718 0.5575 0.2853 0.1051 0.4008 0.37 0.56 0.28 0.13 0.3375 0.56 1 T 0.0 B 0.0 B 0.004 N 1.000 P -3.045 N 9.18 T -1.010 T 0.000 T 0.074 -1.516 0.016 3.14 0.948 -4.165 11.334 -1.515691 NA 1 0.350698 0.146391 NA 0.341 NA 8.2733354 833 5 169661994 169661994 G C exonic C5orf58 NA nonsynonymous SNV C5orf58:NM_001102609:exon3:c.G77C:p.R26P exonic ENSG00000234511 NA nonsynonymous SNV ENSG00000234511:ENST00000521850:exon2:c.G77C:p.R26P,ENSG00000234511:ENST00000524171:exon3:c.G77C:p.R26P,ENSG00000234511:ENST00000593851:exon3:c.G77C:p.R26P NA NA 5q35.1 NA NA NA NA rs957998 0.53 0.53 0.512 NA NA NA NA NA NA 0.52 0.56 0.6 0.48 0.5587 0.62 0.22 T 0.004 B 0.002 B . . 1.000 P 0 N . . -0.939 T 0.000 T 0.139 -1.01 0.246 3.53 0.584 1.242 7.912 -1.010296 NA 0.07 0.501973 0.48414 NA 0.507 NA 8.2726604 833 19 501743 501743 T C exonic MADCAM1 NA nonsynonymous SNV MADCAM1:NM_130760:exon4:c.T742C:p.S248P exonic ENSG00000099866 NA nonsynonymous SNV ENSG00000099866:ENST00000587541:exon2:c.T85C:p.S29P,ENSG00000099866:ENST00000215637:exon4:c.T742C:p.S248P NA NA 19p13.3 NA NA NA NA rs1140822 0.44 0.44 0.381 NA NA NA NA NA NA 0.41 0.46 0.41 0.48 0.061 0.48 0.23 T 0.0 B 0.0 B . . 1.000 P 0 N 2.91 T -0.932 T 0.000 T 0.137 1.21 9.912 -2.51 -0.876 -0.635 2.775 1.209757 NA 0.21 NA NA NA 0.13 NA 8.2723334 833 4 128723042 128723042 T C exonic HSPA4L NA nonsynonymous SNV HSPA4L:NM_014278:exon6:c.T632C:p.L211S exonic ENSG00000164070 NA nonsynonymous SNV ENSG00000164070:ENST00000508549:exon5:c.T509C:p.L170S,ENSG00000164070:ENST00000296464:exon6:c.T632C:p.L211S,ENSG00000164070:ENST00000505726:exon6:c.T554C:p.L185S,ENSG00000164070:ENST00000439123:exon7:c.T725C:p.L242S,ENSG00000164070:ENST00000508776:exon7:c.T632C:p.L211S Score=640;Name=lod=534 NA 4q28.1 NA NA NA NA rs1380154 0.71 0.71 0.711 0.745208 0.6859 0.6756 0.7738 0.8033 0.7791 0.69 0.64 0.76 0.8 0.7048 0.8 1 T 0.0 B 0.001 B 0.000 N 1.000 P -3.185 N 6.73 T -1.040 T 0.000 T 0.174 0.256 5.384 3.97 0.645 4.180 9.682 0.256065 NA 1 0.670698 0.797549 ID=COSM1131260;OCCURENCE=1(prostate) 0.667 NA 8.2719354 833 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 833 17 35937637 35937637 T C exonic SYNRG NA nonsynonymous SNV SYNRG:NM_007247:exon7:c.A664G:p.T222A exonic ENSG00000006114 NA nonsynonymous SNV ENSG00000006114:ENST00000339208:exon7:c.A664G:p.T222A,ENSG00000006114:ENST00000346661:exon7:c.A664G:p.T222A Score=658;Name=lod=629 NA 17q12 NA NA NA NA rs12602536 0.16 0.16 0.156 0.169529 0.2097 0.1389 0.2176 0.0877 0.2362 0.22 0.13 0.2 0.08 0.1759 0.22 0.72 T 0.587 P 0.151 B 0.010 N 0.000 P 1.265 L 1.54 T -1.003 T 0.000 T 0.039 1.802 11.99 1.97 0.320 0.400 4.795 1.802382 1.802382 0.11 0.177326 0.100318 ID=COSM1128746;OCCURENCE=1(prostate) 0.101 NA 8.2704074 833 3 131068509 131068509 A G exonic NEK11 NA nonsynonymous SNV NEK11:NM_001146003:exon16:c.A1730G:p.K577R exonic ENSG00000114670 NA nonsynonymous SNV ENSG00000114670:ENST00000510688:exon16:c.A1730G:p.K577R NA NA 3q22.1 NA NA NA NA rs12632399 0.03 0.03 0.027 0.0329473 0.0159 0.0962 0.0159 0.0015 0.0399 0.02 0.1 0.02 NA 0.0252 0.1 0.08 T 0.003 B 0.004 B . . 0.989 N . . -0.48 T -1.048 T 0.009 T . 1.613 11.35 -4.61 -0.755 -0.336 17.047 1.61319 1.61319 NA 0.021977 0.006128 NA 0.007 NA 8.2702564 833 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 833 17 3101691 3101691 G T exonic OR1A2 NA nonsynonymous SNV OR1A2:NM_012352:exon1:c.G879T:p.W293C exonic ENSG00000172150 NA nonsynonymous SNV ENSG00000172150:ENST00000381951:exon1:c.G879T:p.W293C NA NA 17p13.3 NA NA NA NA rs12150427 0.33 0.33 0.308 0.288938 0.3509 0.5595 0.2853 0.0598 0.2587 0.35 0.55 0.33 0.07 0.3427 0.55 0 D 0.007 B 0.002 B 0.072 N 0.987 P 0.345 N 1.22 T -0.924 T 0.000 T 0.118 -0.721 0.906 -3.05 -0.665 -0.330 5.026 -0.720596 NA 0 0.369884 0.114843 ID=COSM148148;OCCURENCE=1(stomach) 0.29 NA 8.2698494 833 17 17409560 17409560 C T exonic PEMT NA nonsynonymous SNV PEMT:NM_001267551:exon6:c.G568A:p.V190M,PEMT:NM_007169:exon6:c.G523A:p.V175M,PEMT:NM_148172:exon6:c.G634A:p.V212M,PEMT:NM_148173:exon6:c.G523A:p.V175M,PEMT:NM_001267552:exon7:c.G665A:p.S222N exonic ENSG00000133027 NA nonsynonymous SNV ENSG00000133027:ENST00000255389:exon6:c.G634A:p.V212M,ENSG00000133027:ENST00000395782:exon6:c.G523A:p.V175M,ENSG00000133027:ENST00000395783:exon6:c.G523A:p.V175M,ENSG00000133027:ENST00000395781:exon7:c.G665A:p.S222N,ENSG00000133027:ENST00000435340:exon7:c.G602A:p.S201N NA NA 17p11.2 NA NA NA NA rs7946 0.46 0.46 0.449 0.424521 0.7038 0.1716 0.5562 0.3222 0.4427 0.71 0.18 0.59 0.32 0.6375 0.72 0.11 T 0.955 P 0.578 P 0.050 N 1.000 P 2.045 M 0.85 T -0.971 T 0.000 T 0.195 -1.025 0.226 2.16 0.380 -0.047 5.481 -1.024667 NA 0.11 0.722702 0.406193 ID=COSM1128813;OCCURENCE=1(prostate) 0.428 NA 8.2693314 833 6 153296541 153296541 G C exonic FBXO5 NA nonsynonymous SNV FBXO5:NM_001142522:exon2:c.C181G:p.Q61E,FBXO5:NM_012177:exon2:c.C319G:p.Q107E exonic ENSG00000112029 NA nonsynonymous SNV ENSG00000112029:ENST00000229758:exon2:c.C319G:p.Q107E,ENSG00000112029:ENST00000367241:exon2:c.C181G:p.Q61E NA NA 6q25.2 NA Name=Pol2-4H8,FOXA1_(C-20) Name=32 NA rs2073260 0.73 0.73 0.752 0.772764 0.6799 0.5982 0.7363 0.9841 0.7883 0.68 0.59 0.75 0.97 0.7121 0.97 1 T 0.0 B 0.0 B 0.059 N 1.000 P -1.78 N 1.76 T -0.923 T 0.004 T 0.021 -1.651 0.012 4.54 0.675 0.756 6.968 -1.650753 NA 1 0.673605 0.927145 NA 0.783 NA 8.2677284 833 19 21477403 21477403 T G exonic ZNF708 NA nonsynonymous SNV ZNF708:NM_021269:exon4:c.A365C:p.K122T exonic ENSG00000182141 NA nonsynonymous SNV ENSG00000182141:ENST00000601295:exon3:c.A173C:p.K58T,ENSG00000182141:ENST00000356929:exon4:c.A365C:p.K122T,ENSG00000182141:ENST00000602023:exon4:c.A137C:p.K46T NA NA 19p12 NA NA NA NA rs1781872 0.1 0.1 0.098 0.0982428 0.1978 0.0069 0.1037 0.0651 0.1309 0.19 0.01 0.12 0.07 0.1589 0.21 0.1 T 0.686 P 0.178 B . . 1.000 P 2.83 M 3.27 T -1.025 T 0.000 T 0.102 0.629 7.383 -0.782 0.402 -0.456 4.627 0.629218 NA 0.05 0.209186 0.097367 NA 0.145 NA 8.2674474 833 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=Pol2(phosphoS2),Pol2,POU2F2,Pol2-4H8,ZEB1_(SC-25388),ELF1_(SC-631),Oct-2,Sin3Ak-20 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 833 12 51733734 51733734 G A exonic CELA1 NA synonymous SNV CELA1:NM_001971:exon6:c.C519T:p.Y173Y exonic ENSG00000139610 NA synonymous SNV ENSG00000139610:ENST00000293636:exon6:c.C519T:p.Y173Y NA NA 12q13.13 Score=867;Name=V$TAL1ALPHAE47_01 Name=CTCF Name=2 NA rs17860317 0.25 0.25 0.217 0.234824 0.1173 0.4048 0.3213 0.2126 0.1493 0.12 0.37 0.31 0.24 0.1766 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.249583 NA NA 0.107558 0.188153 NA 0.123 NA 8.2652086 834 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 834 18 55027334 55027334 G T exonic ST8SIA3 NA synonymous SNV ST8SIA3:NM_015879:exon4:c.G969T:p.P323P exonic ENSG00000177511 NA synonymous SNV ENSG00000177511:ENST00000324000:exon4:c.G969T:p.P323P Score=677;Name=lod=755 NA 18q21.31 NA Name=FOXA2_(SC-6554) NA Score=69;Name=1094031_0_+_69 rs1153626 0.33 0.33 0.325 NA NA NA NA NA NA 0.15 0.54 0.29 0.41 0.2457 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.696002 NA NA 0.156279 0.388107 NA 0.312 NA 8.2646876 834 11 22271870 22271870 A T exonic ANO5 NA nonsynonymous SNV ANO5:NM_001142649:exon10:c.A963T:p.L321F,ANO5:NM_213599:exon10:c.A966T:p.L322F exonic ENSG00000171714 NA nonsynonymous SNV ENSG00000171714:ENST00000324559:exon10:c.A966T:p.L322F NA NA 11p14.3 NA NA NA NA rs7481951 0.35 0.35 0.331 NA NA NA NA NA NA 0.58 0.2 0.42 0.1 0.4835 0.59 0.22 T 0.011 B 0.022 B 0.289 N 1.000 P 1.3 L -0.19 T -0.934 T 0.000 T 0.071 1.845 12.13 3.01 0.317 -0.001 5.327 1.84466 1.84466 0.27 0.586163 0.180209 NA 0.522 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|not;CLNACC=RCV000082855.2|RCV000128791.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.2636704 834 13 46288145 46288145 A G exonic SPERT NA nonsynonymous SNV SPERT:NM_152719:exon3:c.A985G:p.K329E exonic ENSG00000174015 NA nonsynonymous SNV ENSG00000174015:ENST00000378966:exon2:c.A877G:p.K293E,ENSG00000174015:ENST00000310521:exon3:c.A985G:p.K329E Score=295;Name=lod=21 NA 13q14.13 NA NA NA NA rs7317245 0.54 0.54 0.567 0.494609 0.6869 0.5 0.4914 0.3003 0.5562 0.69 0.5 0.54 0.33 0.6691 0.71 1 T 0.0 B 0.0 B 0.057 N 1.000 P -0.895 N 1.19 T -0.935 T 0.000 T 0.019 -1.813 0.009 3.16 0.277 1.217 5.027 -1.812861 NA 1 0.714213 0.405045 NA 0.522 NA 8.2631204 834 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 834 18 28610988 28610988 C T exonic DSC3 NA nonsynonymous SNV DSC3:NM_001941:exon3:c.G305A:p.R102K,DSC3:NM_024423:exon3:c.G305A:p.R102K exonic ENSG00000134762 NA nonsynonymous SNV ENSG00000134762:ENST00000360428:exon3:c.G305A:p.R102K,ENSG00000134762:ENST00000434452:exon3:c.G305A:p.R102K NA NA 18q12.1 NA Name=TAL1_(SC-12984) NA NA rs276938 0.43 0.43 0.391 0.435503 0.3549 0.6776 0.3401 0.32 0.4928 0.34 0.69 0.35 0.33 0.3948 0.69 0.25 T 0.0 B 0.004 B . . 1.000 P -0.715 N 0.2 T -0.966 T 0.000 T 0.016 -0.391 2.166 1.64 0.134 1.229 5.100 -0.391109 NA 0.39 0.32093 0.339991 NA 0.399 NA 8.2627034 834 11 123778031 123778031 G A exonic OR8D4 NA nonsynonymous SNV OR8D4:NM_001005197:exon1:c.G893A:p.R298K exonic ENSG00000181518 NA nonsynonymous SNV ENSG00000181518:ENST00000321355:exon1:c.G893A:p.R298K Score=431;Name=lod=75 NA 11q24.1 NA NA NA NA rs7927385 0.7 0.7 0.671 0.6877 0.6809 0.7262 0.7911 0.6467 0.637 0.68 0.75 0.79 0.62 0.7011 0.79 1 T 0.0 B 0.0 B 0.004 N 1.000 P -2.025 N 0.56 T -0.940 T 0.000 T 0.035 -1.471 0.018 5.27 0.837 2.941 7.807 -1.470582 NA 1 0.689463 0.646912 NA 0.681 NA 8.2618704 834 6 152529260 152529260 G A exonic SYNE1 NA synonymous SNV SYNE1:NM_033071:exon124:c.C22458T:p.I7486I,SYNE1:NM_182961:exon125:c.C22671T:p.I7557I exonic ENSG00000131018 NA synonymous SNV ENSG00000131018:ENST00000367257:exon5:c.C609T:p.I203I,ENSG00000131018:ENST00000367251:exon10:c.C1437T:p.I479I,ENSG00000131018:ENST00000356820:exon40:c.C6243T:p.I2081I,ENSG00000131018:ENST00000423061:exon124:c.C22458T:p.I7486I,ENSG00000131018:ENST00000265368:exon125:c.C22671T:p.I7557I,ENSG00000131018:ENST00000367255:exon125:c.C22671T:p.I7557I,ENSG00000131018:ENST00000448038:exon125:c.C22458T:p.I7486I,ENSG00000131018:ENST00000341594:exon126:c.C21507T:p.I7169I Score=532;Name=lod=193 NA 6q25.2 Score=790;Name=V$COMP1_01 NA NA NA rs3798756 0.17 0.17 0.148 0.155152 0.1272 0.2133 0.2378 0.1067 0.1309 0.12 0.25 0.19 0.11 0.1437 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.403734 1.403734 NA 0.13407 0.118929 NA 0.13 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118463.2;CLNDSDB=.;CLNDSDBID=. 8.2616966 834 3 42787469 42787469 A G exonic CCDC13 NA synonymous SNV CCDC13:NM_144719:exon7:c.T771C:p.S257S exonic ENSG00000244607 NA synonymous SNV ENSG00000244607:ENST00000310232:exon7:c.T771C:p.S257S Score=369;Name=lod=42 NA 3p22.1 Score=797;Name=V$OLF1_01 Name=FOSL2,JunD 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 834 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 834 X 135310785 135310785 T C exonic MAP7D3 NA nonsynonymous SNV MAP7D3:NM_001173517:exon10:c.A1778G:p.Q593R,MAP7D3:NM_001173516:exon11:c.A1829G:p.Q610R,MAP7D3:NM_024597:exon11:c.A1883G:p.Q628R exonic ENSG00000129680 NA nonsynonymous SNV ENSG00000129680:ENST00000370661:exon10:c.A1778G:p.Q593R,ENSG00000129680:ENST00000316077:exon11:c.A1883G:p.Q628R,ENSG00000129680:ENST00000370660:exon11:c.A1760G:p.Q587R,ENSG00000129680:ENST00000370663:exon11:c.A1829G:p.Q610R NA NA Xq26.3 NA NA NA NA rs2273221 0.53 0.53 0.51033 NA NA NA NA NA NA 0.57 0.71 0.51 0.28 0.5348 0.71 0.34 T 0.001 B 0.003 B . . 1.000 P 0.895 L 1.97 T -0.931 T 0.000 T 0.163 0.75 7.976 -5.9 -2.118 -0.479 6.02 0.750132 NA 0.05 0.53851 0.301093 ID=COSM1132401;OCCURENCE=1(prostate) 0.449 NA 8.2600234 834 2 85769711 85769711 C G exonic MAT2A NA synonymous SNV MAT2A:NM_005911:exon7:c.C792G:p.R264R exonic ENSG00000168906 NA synonymous SNV ENSG00000168906:ENST00000306434:exon7:c.C792G:p.R264R,ENSG00000168906:ENST00000409017:exon7:c.C603G:p.R201R Score=732;Name=lod=1255 NA 2p11.2 Score=808;Name=V$GFI1_01 Name=Pol2-4H8,HEY1,Pol2 Name=9 NA rs1078004 0.5 0.5 0.501 0.492812 0.494 0.3859 0.3934 0.7194 0.3661 0.48 0.38 0.45 0.72 0.4529 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621493 NA NA 0.459884 0.675897 ID=COSM148883;OCCURENCE=1(stomach) 0.493 NA 8.2598826 834 2 178762824 178762824 T C exonic PDE11A NA synonymous SNV PDE11A:NM_001077358:exon3:c.A189G:p.E63E,PDE11A:NM_016953:exon4:c.A1263G:p.E421E,PDE11A:NM_001077197:exon5:c.A513G:p.E171E exonic ENSG00000128655 NA synonymous SNV ENSG00000128655:ENST00000409504:exon3:c.A189G:p.E63E,ENSG00000128655:ENST00000449286:exon3:c.A189G:p.E63E,ENSG00000128655:ENST00000286063:exon4:c.A1263G:p.E421E,ENSG00000128655:ENST00000358450:exon5:c.A513G:p.E171E Score=713;Name=lod=1053 NA 2q31.2 Score=839;Name=V$IRF2_01 NA NA NA rs71423514 0.07 0.07 0.062 0.0601038 0.1362 0.0149 0.0735 0.0061 0.092 0.15 0.02 0.08 0.01 0.1168 0.15 . . . . . . . . 0.000 P . . . . -1.060 T 0.001 T . 1.2 9.875 1.66 0.431 0.296 10.047 1.199996 NA NA 0.153953 0.031094 NA 0.036 NA 8.2597136 834 15 42434837 42434837 T C exonic PLA2G4F NA nonsynonymous SNV PLA2G4F:NM_213600:exon19:c.A2218G:p.M740V exonic ENSG00000168907 NA nonsynonymous SNV ENSG00000168907:ENST00000382396:exon19:c.A2218G:p.M740V,ENSG00000168907:ENST00000397272:exon19:c.A2224G:p.M742V NA NA 15q15.1 NA NA NA NA rs1356410 0.78 0.78 0.768 0.814297 0.663 0.87 0.7622 0.8865 0.8517 0.69 0.88 0.72 0.86 0.7457 0.88 0.24 T 0.0 B 0.0 B 0.740 N 1.000 P 0.14 N 3.02 T -1.019 T 0.000 T 0.035 0.804 8.228 -9.38 -1.883 -1.352 1.826 0.804122 NA 0.25 0.665271 0.842941 NA 0.775 NA 8.2593624 834 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 834 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 834 17 29159404 29159404 G C exonic ATAD5 NA synonymous SNV ATAD5:NM_024857:exon1:c.G39C:p.P13P exonic ENSG00000176208 NA synonymous SNV ENSG00000176208:ENST00000321990:exon1:c.G39C:p.P13P,ENSG00000176208:ENST00000578295:exon1:c.G39C:p.P13P Score=515;Name=lod=165 NA 17q11.2 NA Name=STAT1,Pol2-4H8,YY1,YY1_(C-20) Name=25 NA rs999796 0.24 0.24 0.258 0.28774 0.1173 0.1349 0.2305 0.5681 0.2822 0.1 0.16 0.22 0.55 0.1815 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.693865 1.693865 NA 0.111744 0.480708 ID=COSM436298;OCCURENCE=1(breast) 0.304 NA 8.2561226 835 11 89935586 89935586 G T exonic CHORDC1 NA nonsynonymous SNV CHORDC1:NM_001144073:exon10:c.C929A:p.A310D,CHORDC1:NM_012124:exon11:c.C986A:p.A329D exonic ENSG00000110172 NA nonsynonymous SNV ENSG00000110172:ENST00000529726:exon4:c.C422A:p.A141D,ENSG00000110172:ENST00000529987:exon6:c.C422A:p.A141D,ENSG00000110172:ENST00000457199:exon10:c.C929A:p.A310D,ENSG00000110172:ENST00000320585:exon11:c.C986A:p.A329D Score=352;Name=lod=36 NA 11q14.3 NA NA NA NA rs1045861 0.63 0.63 0.619 0.610423 0.6958 0.6756 0.6542 0.3714 0.7474 0.69 0.72 0.68 0.41 0.6885 0.72 . . 0.007 B 0.002 B 0.806 N 0.000 P -0.69 N 0.96 T -0.930 T 0.000 T 0.024 -1.134 0.115 4.08 0.292 1.500 11.064 -1.133751 NA 1 0.695323 0.412955 NA 0.667 NA 8.2537104 835 19 52447624 52447624 C T exonic ZNF613 NA nonsynonymous SNV ZNF613:NM_001031721:exon6:c.C488T:p.S163F,ZNF613:NM_024840:exon6:c.C380T:p.S127F exonic ENSG00000176024 NA nonsynonymous SNV ENSG00000176024:ENST00000293471:exon6:c.C488T:p.S163F,ENSG00000176024:ENST00000391794:exon6:c.C380T:p.S127F NA NA 19q13.41 NA NA NA NA rs33998555 0.02 0.02 0.008 0.0153754 0.0378 0.004 0.0231 0.0015 0.0174 0.03 0.0035 0.04 0.002 0.0218 0.04 0.4 T 0.078 B 0.039 B 0.887 N 1.000 N 0.625 N 3.4 T -0.912 T 0.003 T 0.164 -0.607 1.294 2.41 0.782 0.222 4.375 -0.60668 NA 0.25 0.020698 0.002724 NA NA NA 8.2530354 835 2 157406249 157406249 G A exonic GPD2 NA nonsynonymous SNV GPD2:NM_000408:exon7:c.G791A:p.R264H,GPD2:NM_001083112:exon7:c.G791A:p.R264H exonic ENSG00000115159 NA nonsynonymous SNV ENSG00000115159:ENST00000409125:exon3:c.G110A:p.R37H,ENSG00000115159:ENST00000310454:exon7:c.G791A:p.R264H,ENSG00000115159:ENST00000409674:exon7:c.G791A:p.R264H,ENSG00000115159:ENST00000409861:exon7:c.G791A:p.R264H,ENSG00000115159:ENST00000438166:exon7:c.G791A:p.R264H,ENSG00000115159:ENST00000540309:exon7:c.G791A:p.R264H Score=333;Name=lod=30 NA 2q24.1 NA NA NA NA rs2116665 0.66 0.66 0.657 0.657947 0.6889 0.7847 0.7032 0.4849 0.6973 0.69 0.77 0.67 0.46 0.6831 0.77 0.08 T 0.02 B 0.013 B 0.002 N 0.128 P 1.61 L -0.27 T -0.981 T 0.000 T 0.107 0.688 7.674 3.17 0.412 1.958 10.145 0.687659 NA 0.2 0.709535 0.475034 ID=COSM148959;OCCURENCE=1(stomach),1(large_intestine) 0.623 NA 8.2517984 835 10 134623959 134623959 T C exonic TTC40 NA nonsynonymous SNV TTC40:NM_001200049:exon57:c.A7618G:p.S2540G exonic ENSG00000171811 NA nonsynonymous SNV ENSG00000171811:ENST00000263170:exon19:c.A2101G:p.S701G,ENSG00000171811:ENST00000368586:exon57:c.A7618G:p.S2540G NA NA 10q26.3 NA NA NA NA rs2254419 0.75 0.75 0.752 0.756989 0.6978 0.7381 0.5447 0.9697 0.7004 0.7 0.75 0.59 0.95 0.6949 0.95 0.24 T 0.0 B 0.0 B 0.016 N 1.000 P 0.205 N 2.84 T -0.971 T 0.000 T 0.103 -1.509 0.017 -5.95 -3.436 -3.996 8.676 -1.509092 NA 0.08 0.689884 0.936904 NA 0.754 NA 8.2507494 835 3 172835392 172835392 A T exonic SPATA16 NA nonsynonymous SNV SPATA16:NM_031955:exon2:c.T130A:p.S44T exonic ENSG00000144962 NA nonsynonymous SNV ENSG00000144962:ENST00000351008:exon2:c.T130A:p.S44T NA NA 3q26.31 NA NA NA NA rs146572379 0.02 0.02 0.016 0.0167732 0.0268 NA 0.0447 0.0015 0.0245 0.03 NA 0.05 0.0041 0.0264 0.05 1 T 0.0 B 0.001 B 0.775 N 1.000 N -0.345 N 2.45 T -0.973 T 0.003 T 0.031 -1.337 0.031 -3.05 -0.750 -0.562 7.37 -1.336511 NA 0.9 0.029884 0.004085 NA 0.007 NA 8.2502494 835 19 41111069 41111069 G A exonic LTBP4 NA unknown UNKNOWN exonic ENSG00000090006 NA nonsynonymous SNV ENSG00000090006:ENST00000396819:exon2:c.G379A:p.V127I,ENSG00000090006:ENST00000204005:exon5:c.G469A:p.V157I,ENSG00000090006:ENST00000308370:exon5:c.G580A:p.V194I Score=366;Name=lod=41 NA 19q13.2 Score=763;Name=V$PAX5_02 Name=GR,Ini1,E2F6 NA NA rs2303729 0.47 0.47 0.485 0.524361 0.4642 0.4087 0.3689 0.7118 0.5624 0.47 0.36 0.36 0.68 0.4994 0.68 0.22 T 0.0 B 0.0 B 0.408 N 0.000 P 0 N -1.33 T -0.943 T 0.000 T 0.029 1.431 10.72 1.86 0.617 0.309 3.266 1.430658 1.430658 0.2 0.454093 0.659834 NA 0.522 NA 8.2489737 835 11 69462910 69462910 G A exonic CCND1 NA synonymous SNV CCND1:NM_053056:exon4:c.G723A:p.P241P exonic ENSG00000110092 NA synonymous SNV ENSG00000110092:ENST00000227507:exon4:c.G723A:p.P241P Score=535;Name=lod=199 NA 11q13.3 Score=816;Name=V$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 835 5 140262492 140262492 A T exonic PCDHA13 NA synonymous SNV PCDHA13:NM_018904:exon1:c.A639T:p.T213T,PCDHA13:NM_031865:exon1:c.A639T:p.T213T exonic ENSG00000239389 NA synonymous SNV ENSG00000239389:ENST00000289272:exon1:c.A639T:p.T213T,ENSG00000239389:ENST00000409494:exon1:c.A639T:p.T213T Score=336;Name=lod=31 NA 5q31.3 Score=799;Name=V$HNF1_01 Name=CTCF NA NA rs11744560 0.11 0.11 0.107 0.0808706 0.1421 0.0179 0.1239 0.0809 0.0521 0.16 0.02 0.14 0.11 0.1226 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.709176 NA NA 0.153488 0.089424 NA 0.08 NA 8.2484786 835 7 150696111 150696111 T G exonic NOS3 NA nonsynonymous SNV NOS3:NM_001160109:exon7:c.T894G:p.D298E,NOS3:NM_001160110:exon7:c.T894G:p.D298E,NOS3:NM_001160111:exon7:c.T894G:p.D298E,NOS3:NM_000603:exon8:c.T894G:p.D298E exonic ENSG00000164867 NA nonsynonymous SNV ENSG00000164867:ENST00000461406:exon5:c.T276G:p.D92E,ENSG00000164867:ENST00000467517:exon7:c.T894G:p.D298E,ENSG00000164867:ENST00000484524:exon7:c.T894G:p.D298E,ENSG00000164867:ENST00000297494:exon8:c.T894G:p.D298E Score=361;Name=lod=39 NA 7q36.1 Score=929;Name=V$ZIC3_01 NA NA NA rs1799983 0.8 0.8 0.791 0.823682 0.6561 0.87 0.7853 0.9297 0.8323 0.68 0.88 0.76 0.94 0.753 0.94 1 T 0.0 B 0.001 B 0.001 N 1.000 P . . 2.12 T -0.957 T 0.000 T 0.051 -1.047 0.198 1.04 0.032 -0.370 0.711 -1.04692 NA 1 0.675868 0.884476 NA 0.725 CLINSIG=other|other|other|pathogenic|other|other;CLNDBN=Coronary_artery_spasm_1\x2c_susceptibility_to|Alzheimer_disease\x2c_late-onset\x2c_susceptibility_to|Hypertension\x2c_pregnancy-induced\x2c_susceptibility_to|Hypertension_resistant_to_conventional_therapy|Ischemic_heart_disease\x2c_susceptibility_to|Ischemic_stroke\x2c_susceptibility_to;CLNREVSTAT=single|single|single|single|single|single;CLNACC=RCV000015053.1|RCV000015054.1|RCV000015055.1|RCV000015056.24|RCV000015057.1|RCV000015058.1;CLNDSDB=.|MedGen|MedGen|MedGen|.|.;CLNDSDBID=.|C1834153|C1834154|C1834155|.|. 8.2483654 835 4 123171659 123171659 T A exonic KIAA1109 NA nonsynonymous SNV KIAA1109:NM_015312:exon35:c.T5853A:p.D1951E exonic ENSG00000138688 NA nonsynonymous SNV ENSG00000138688:ENST00000388738:exon35:c.T5853A:p.D1951E,ENSG00000138688:ENST00000455637:exon35:c.T5853A:p.D1951E,ENSG00000138688:ENST00000264501:exon37:c.T5853A:p.D1951E Score=708;Name=lod=1006 NA 4q27 NA NA NA NA rs56363411 0.01 0.01 0.012 0.0111821 0.0288 NA 0.0231 0.0023 0.0082 0.02 NA 0.03 0.0041 0.0235 0.033 0.86 T 0.005 B 0.007 B 0.005 U 0.581 N 1.5 L 2.31 T -0.999 T 0.032 T 0.095 1.639 11.44 0.014 0.078 0.029 1.477 1.639401 1.639401 0.44 0.032691 0.00661 NA 0.058 NA 8.2483424 835 20 13134768 13134768 T C exonic SPTLC3 NA synonymous SNV SPTLC3:NM_018327:exon10:c.T1398C:p.Y466Y exonic ENSG00000172296 NA synonymous SNV ENSG00000172296:ENST00000399002:exon10:c.T1398C:p.Y466Y Score=517;Name=lod=169 NA 20p12.1 NA NA NA NA rs6078938 0.19 0.19 0.174 0.152556 0.1282 0.2262 0.2219 0.146 0.0613 0.14 0.23 0.22 0.19 0.1522 0.25 . . . . . . . . 0.000 P . . . . -1.002 T 0.000 T . 0.021 4.123 -3.3 -0.392 0.543 14.158 0.021081 NA NA 0.13919 0.1409 NA 0.239 NA 8.2470766 835 11 71146691 71146691 A G exonic DHCR7 NA synonymous SNV DHCR7:NM_001163817:exon9:c.T1158C:p.D386D,DHCR7:NM_001360:exon9:c.T1158C:p.D386D exonic ENSG00000172893 NA nonsynonymous SNV ENSG00000172893:ENST00000525137:exon3:c.T659C:p.M220T NA NA 11q13.4 NA NA NA NA rs760241 0.82 0.82 0.848 0.75639 0.9553 0.7688 0.7666 0.6861 0.6268 0.95 0.82 0.78 0.65 0.8531 0.95 0.05 D . . . . . . 0.000 P . . -5.64 D -0.882 T 0.000 T . -0.953 0.336 -10.2 -2.600 -0.798 11.943 -0.95334 NA NA 0.945971 0.725227 ID=COSM1475860,COSM429787;OCCURENCE=2(breast) 0.536 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079639.1;CLNDSDB=.;CLNDSDBID=. 8.245629 835 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=NRSF,Pol2(b),Pol2,HEY1,Pol2-4H8,CTCF_(SC-5916) 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 835 14 76175565 76175565 C A intronic TTLL5 NA NA NA exonic ENSG00000119685 NA nonsynonymous SNV ENSG00000119685:ENST00000286650:exon10:c.C784A:p.L262I NA NA 14q24.3 NA Name=CTCF NA NA rs1981898 0.49 0.49 0.442 0.442692 0.668 0.3571 0.6009 0.1921 0.5256 0.68 0.37 0.62 0.22 0.5958 0.68 0.02 D 0.179 B 0.094 B . . 0.000 P . . 3.28 T -1.044 T 0.000 T 0.224 2.007 12.67 4.92 2.713 -0.793 13.804 2.007005 2.007005 0.55 0.65771 0.273402 NA 0.493 NA 8.2451567 836 8 8176221 8176221 C T exonic SGK223 NA nonsynonymous SNV SGK223:NM_001080826:exon5:c.G3664A:p.G1222S exonic ENSG00000182319 NA nonsynonymous SNV ENSG00000182319:ENST00000330777:exon5:c.G3664A:p.G1222S,ENSG00000182319:ENST00000520004:exon6:c.G3664A:p.G1222S NA NA 8p23.1 NA Name=ELF1_(SC-631),CTCF_(SC-5916) NA NA rs13269488 0.52 0.52 0.553 0.481829 0.5229 0.5665 0.5058 0.4085 0.4346 0.52 0.62 0.46 0.43 0.5286 0.62 0.2 T 0.998 D 0.906 P 0.064 N 1.000 P 1.125 L -0.08 T -0.917 T 0.000 T 0.159 0.457 6.482 0.737 0.252 -0.622 3.553 0.45707 NA 0.24 0.537137 0.444712 NA 0.333 NA 8.2446964 836 12 11138852 11138852 C T exonic TAS2R50 NA nonsynonymous SNV TAS2R50:NM_176890:exon1:c.G608A:p.C203Y exonic ENSG00000212126 NA nonsynonymous SNV ENSG00000212126:ENST00000506868:exon1:c.G608A:p.C203Y NA NA 12p13.2 NA NA NA NA rs1376251 0.4 0.4 0.374 0.410343 0.3579 0.755 0.3775 0.056 0.6115 0.35 0.74 0.41 0.05 0.3968 0.74 0.31 T 0.037 B 0.081 B 0.216 U 1.000 P 2.79 M 1.25 T -1.009 T 0.000 T 0.201 0.746 7.954 1.22 0.217 1.588 7.505 0.745525 NA 0.08 0.334651 0.095325 NA 0.348 NA 8.2439824 836 2 131802045 131802045 C T exonic ARHGEF4 NA synonymous SNV ARHGEF4:NM_015320:exon12:c.C1773T:p.P591P,ARHGEF4:NM_032995:exon12:c.C1773T:p.P591P exonic ENSG00000136002 NA synonymous SNV ENSG00000136002:ENST00000355771:exon9:c.C1560T:p.P520P,ENSG00000136002:ENST00000409303:exon9:c.C1593T:p.P531P,ENSG00000136002:ENST00000525839:exon11:c.C1773T:p.P591P,ENSG00000136002:ENST00000326016:exon12:c.C1773T:p.P591P,ENSG00000136002:ENST00000392953:exon12:c.C1773T:p.P591P NA NA 2q21.1 NA NA NA NA rs10928515 0.15 0.15 0.152 0.184305 0.1074 0.1329 0.1196 0.2791 0.2342 0.11 0.14 0.12 0.25 0.204 0.25 . . . . . . . . 0.000 P . . . . . . . . . 0.893 8.628 -10.4 -3.160 -4.997 0.449 0.893035 NA NA 0.11132 0.241539 ID=COSM441127;OCCURENCE=1(breast) 0.167 NA 8.2439466 836 11 64415767 64415767 G A exonic NRXN2 NA synonymous SNV NRXN2:NM_138732:exon15:c.C3207T:p.G1069G,NRXN2:NM_015080:exon17:c.C3327T:p.G1109G exonic ENSG00000110076 NA synonymous SNV ENSG00000110076:ENST00000377559:exon15:c.C3207T:p.G1069G,ENSG00000110076:ENST00000377551:exon16:c.C3327T:p.G1109G,ENSG00000110076:ENST00000409571:exon16:c.C3306T:p.G1102G,ENSG00000110076:ENST00000265459:exon17:c.C3327T:p.G1109G Score=650;Name=lod=583 NA 11q13.1 Score=843;Name=V$HAND1E47_01 NA NA NA rs3825074 0.12 0.12 0.111 0.111621 0.1491 0.1935 0.0922 0.0076 0.1431 0.15 0.2 0.09 0.02 0.1366 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.094624 NA NA 0.137887 0.035893 NA 0.072 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117852.2;CLNDSDB=.;CLNDSDBID=. 8.2430796 836 11 554047 554047 G A exonic LRRC56 NA nonsynonymous SNV LRRC56:NM_198075:exon14:c.G1400A:p.R467Q exonic ENSG00000161328 NA nonsynonymous SNV ENSG00000161328:ENST00000270115:exon14:c.G1400A:p.R467Q NA NA 11p15.5 NA NA NA NA rs12793222 0.18 0.18 0.177 0.160543 0.1918 0.0476 0.2522 0.2345 0.0798 0.18 0.06 0.27 0.25 0.1822 0.27 0.44 T 0.792 P 0.138 B . . 1.000 P 0.345 N 3.01 T -0.904 T 0.000 T 0.024 1.42 10.68 2.23 0.897 0.300 6.219 1.419586 1.419586 0.49 0.217609 0.237631 NA 0.138 NA 8.2417244 836 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$ZID_01 NA NA NA rs12054944 0.66 0.66 0.613 0.666733 0.4473 0.9921 0.6383 0.6657 0.5787 0.43 1 0.59 0.67 0.5444 1 . . . . . . . . 0.000 P . . . . -1.039 T 0.000 T . 0.687 7.67 -10.4 -2.954 -4.861 2.127 0.686728 NA NA 0.433372 0.629596 ID=COSM449290;OCCURENCE=1(breast) 0.493 NA 8.2415946 836 20 48524827 48524827 A G exonic SPATA2 NA synonymous SNV SPATA2:NM_001135773:exon2:c.T201C:p.Y67Y,SPATA2:NM_006038:exon2:c.T201C:p.Y67Y exonic ENSG00000158480 NA synonymous SNV ENSG00000158480:ENST00000289431:exon2:c.T201C:p.Y67Y,ENSG00000158480:ENST00000422556:exon2:c.T201C:p.Y67Y Score=599;Name=lod=362 NA 20q13.13 Score=882;Name=V$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 836 2 166892788 166892788 C T exonic SCN1A NA nonsynonymous SNV SCN1A:NM_001165963:exon16:c.G3199A:p.A1067T,SCN1A:NM_001165964:exon16:c.G3115A:p.A1039T,SCN1A:NM_006920:exon16:c.G3166A:p.A1056T,SCN1A:NM_001202435:exon18:c.G3199A:p.A1067T exonic ENSG00000144285 NA nonsynonymous SNV ENSG00000144285:ENST00000303395:exon16:c.G3199A:p.A1067T,ENSG00000144285:ENST00000375405:exon16:c.G3166A:p.A1056T,ENSG00000144285:ENST00000409050:exon16:c.G3115A:p.A1039T,ENSG00000144285:ENST00000423058:exon16:c.G3199A:p.A1067T NA NA 2q24.3 NA NA NA NA rs2298771 0.79 0.79 0.773 0.788538 0.6918 0.8899 0.7608 0.8457 0.726 0.69 0.89 0.75 0.84 0.7252 0.89 0.64 T 0.0 B 0.001 B 0.797 N 1.000 P 0.06 N -3.85 D -0.930 T 0.000 T 0.095 0.889 8.609 -2.85 -0.778 -0.565 16.312 0.888762 NA 0.5 0.675465 0.816387 NA 0.688 CLINSIG=non-pathogenic|other|non-pathogenic;CLNDBN=Generalized_epilepsy_with_febrile_seizures_plus|not_specified|not_provided;CLNREVSTAT=single|mult|single;CLNACC=RCV000030432.1|RCV000079572.3|RCV000127879.1;CLNDSDB=MedGen|.|.;CLNDSDBID=C3502809|.|. 8.2408684 836 1 161183516 161183516 C T exonic NDUFS2 NA synonymous SNV NDUFS2:NM_001166159:exon12:c.C1290T:p.A430A,NDUFS2:NM_004550:exon13:c.C1290T:p.A430A exonic ENSG00000158864 NA synonymous SNV ENSG00000158864:ENST00000392179:exon12:c.C1290T:p.A430A,ENSG00000158864:ENST00000367993:exon13:c.C1290T:p.A430A Score=608;Name=lod=394 NA 1q23.3 Score=835;Name=V$TAL1BETAE47_01 NA NA NA rs1136207 0.18 0.18 0.16 0.158147 0.1392 0.3562 0.2291 0.0348 0.09 0.13 0.36 0.21 0.03 0.1523 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.241583 1.241583 NA 0.134302 0.050613 NA 0.145 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117712.2;CLNDSDB=.;CLNDSDBID=. 8.2408646 836 7 87537177 87537177 A G exonic DBF4 NA nonsynonymous SNV DBF4:NM_006716:exon12:c.A1724G:p.H575R exonic ENSG00000006634 NA nonsynonymous SNV ENSG00000006634:ENST00000265728:exon12:c.A1724G:p.H575R NA NA 7q21.12 NA Name=FOXA2_(SC-6554) NA NA rs2041049 0.06 0.06 0.062 0.0648962 0.0209 0.0863 0.0749 0.1021 0.0307 0.02 0.08 0.06 0.1 0.045 0.1 0.47 T 0.0 B 0.0 B 0.239 N 1.000 P 1.5 L 1.5 T -1.012 T 0.002 T 0.043 -0.346 2.363 -1.35 -0.249 0.292 11.735 -0.34622 NA 0.71 0.026698 0.073864 NA 0.058 NA 8.2407354 836 5 55178976 55178976 G A exonic IL31RA NA nonsynonymous SNV IL31RA:NM_001242636:exon5:c.G502A:p.D168N,IL31RA:NM_001242637:exon5:c.G559A:p.D187N,IL31RA:NM_139017:exon5:c.G559A:p.D187N,IL31RA:NM_001242639:exon6:c.G133A:p.D45N,IL31RA:NM_001242638:exon7:c.G502A:p.D168N exonic ENSG00000164509 NA nonsynonymous SNV ENSG00000164509:ENST00000297015:exon4:c.G133A:p.D45N,ENSG00000164509:ENST00000354961:exon5:c.G502A:p.D168N,ENSG00000164509:ENST00000359040:exon5:c.G559A:p.D187N,ENSG00000164509:ENST00000396836:exon5:c.G559A:p.D187N,ENSG00000164509:ENST00000447346:exon5:c.G559A:p.D187N,ENSG00000164509:ENST00000490985:exon6:c.G133A:p.D45N,ENSG00000164509:ENST00000396834:exon7:c.G502A:p.D168N NA NA 5q11.2 NA NA NA NA rs13184107 0.01 0.01 0.011 0.00998403 0.0358 NA 0.0144 0.0008 0.0031 0.03 NA 0.02 NA 0.0223 0.035 1 T 0.004 B 0.004 B 0.000 N 1.000 N -0.345 N 0.35 T -1.049 T 0.012 T 0.068 0.87 8.525 -11.1 -1.668 -0.938 5.247 0.869758 NA 0.18 0.035116 0.006809 NA 0.065 NA 8.2401174 836 16 50709723 50709723 G A exonic SNX20 NA synonymous SNV SNX20:NM_001144972:exon3:c.C240T:p.I80I,SNX20:NM_153337:exon3:c.C240T:p.I80I,SNX20:NM_182854:exon3:c.C240T:p.I80I exonic ENSG00000167208 NA synonymous SNV ENSG00000167208:ENST00000300590:exon3:c.C240T:p.I80I,ENSG00000167208:ENST00000330943:exon3:c.C240T:p.I80I,ENSG00000167208:ENST00000423026:exon3:c.C240T:p.I80I,ENSG00000167208:ENST00000568993:exon3:c.C240T:p.I80I Score=477;Name=lod=116 NA 16q12.1 NA Name=c-Myc Name=7 NA rs6596 0.08 0.08 0.077 0.0511182 0.1581 NA 0.0922 0.0144 0.0143 0.16 NA 0.12 0.03 0.1002 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.55838 NA NA 0.168837 0.033212 NA 0.101 NA 8.2395296 836 3 108639423 108639423 C T exonic GUCA1C NA nonsynonymous SNV GUCA1C:NM_005459:exon2:c.G214A:p.V72I exonic ENSG00000138472 NA nonsynonymous SNV ENSG00000138472:ENST00000261047:exon2:c.G214A:p.V72I,ENSG00000138472:ENST00000393963:exon2:c.G214A:p.V72I,ENSG00000138472:ENST00000471108:exon2:c.G214A:p.V72I Score=481;Name=lod=120 NA 3q13.13 NA NA NA NA rs2715687 0.62 0.62 0.626 0.621605 0.7237 0.379 0.6268 0.7057 0.6493 0.74 0.36 0.64 0.71 0.6688 0.74 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.33 N -1.0 T -0.918 T 0.000 T 0.047 -0.578 1.402 4.0 0.302 4.443 8.214 -0.577954 NA 1 0.701816 0.708806 NA 0.652 NA 8.2390174 836 16 74750396 74750396 T C exonic FA2H NA synonymous SNV FA2H:NM_024306:exon6:c.A888G:p.V296V exonic ENSG00000103089 NA synonymous SNV ENSG00000103089:ENST00000544337:exon4:c.A249G:p.V83V,ENSG00000103089:ENST00000219368:exon6:c.A888G:p.V296V Score=321;Name=lod=27 NA 16q23.1 NA Name=CTCF NA NA rs11554621 0.13 0.13 0.133 0.116014 0.159 0.0377 0.0994 0.205 0.044 0.15 0.03 0.12 0.22 0.1195 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.245214 NA NA 0.149186 0.208826 NA 0.101 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117013.1;CLNDSDB=.;CLNDSDBID=. 8.2389806 836 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 836 1 248845458 248845458 C T exonic OR14I1 NA nonsynonymous SNV OR14I1:NM_001004734:exon1:c.G148A:p.D50N exonic ENSG00000189181 NA nonsynonymous SNV ENSG00000189181:ENST00000342623:exon1:c.G148A:p.D50N NA NA 1q44 NA NA NA NA rs4509608 0.77 0.77 0.749 0.746406 0.8857 0.872 0.866 0.3964 0.862 0.88 0.87 0.86 0.42 0.8264 0.88 0.06 T 0.975 D 0.624 P 0.042 N 1.000 P 2.6 M 5.55 T -1.059 T 0.000 T 0.028 2.456 14.17 1.19 0.512 -1.441 5.433 2.455509 2.455509 0.06 0.883605 0.461416 NA 0.674 NA 8.2376284 836 5 131676320 131676320 C T exonic SLC22A4 NA nonsynonymous SNV SLC22A4:NM_003059:exon9:c.C1507T:p.L503F exonic ENSG00000197208 NA nonsynonymous SNV ENSG00000197208:ENST00000200652:exon9:c.C1507T:p.L503F NA NA 5q31.1 NA NA NA NA rs1050152 0.18 0.18 0.161 0.134385 0.3867 0.001 0.2435 0.0212 0.0879 0.37 NA 0.29 0.03 0.2913 0.42 0.06 T 0.006 B 0.046 B 0.502 N 0.994 P 1.635 L -0.85 T -0.980 T 0.000 T 0.084 1.082 9.415 -4.62 -0.729 -0.079 6.023 1.081608 NA 0.15 0.419419 0.083296 NA 0.152 CLINSIG=non-pathogenic;CLNDBN=SLC22A4_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000006106.1;CLNDSDB=.;CLNDSDBID=. 8.2359144 836 1 26136282 26136282 C T exonic SEPN1 NA unknown UNKNOWN exonic ENSG00000162430 NA synonymous SNV ENSG00000162430:ENST00000354177:exon6:c.C879T:p.R293R NA NA 1p36.11 NA Name=ELF1_(SC-631),Egr-1,PU.1,PAX5-C20 Name=14 NA rs147587542 0.01 0.01 0.013 0.0101837 0.0308 NA 0.0187 0.0008 0.0061 0.03 0.0017 0.02 0.002 0.0251 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 0.652792 NA NA 0.041804 0.009469 NA 0.007 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082021.3;CLNDSDB=.;CLNDSDBID=. 8.2356293 837 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 837 5 134223593 134223593 A G exonic TXNDC15 NA synonymous SNV TXNDC15:NM_024715:exon2:c.A312G:p.K104K exonic ENSG00000113621 NA synonymous SNV ENSG00000113621:ENST00000358387:exon2:c.A312G:p.K104K,ENSG00000113621:ENST00000506916:exon2:c.A306G:p.K102K,ENSG00000113621:ENST00000508810:exon2:c.A261G:p.K87K,ENSG00000113621:ENST00000546290:exon2:c.A243G:p.K81K NA NA 5q31.1 NA Name=CTCF NA NA rs3733897 0.15 0.15 0.135 0.155551 0.1491 0.2748 0.1398 0.0401 0.2065 0.15 0.29 0.12 0.03 0.149 0.29 0.52 T . . . . 0.836 N 1.000 P . . 0.92 T -0.984 T 0.000 T . -0.044 3.787 -2.92 -0.425 -0.505 12.816 -0.044405 NA NA 0.135116 0.052429 NA 0.065 NA 8.2334506 837 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 837 1 227182575 227182575 A G exonic CDC42BPA NA synonymous SNV CDC42BPA:NM_014826:exon34:c.T4734C:p.S1578S,CDC42BPA:NM_003607:exon35:c.T4977C:p.S1659S exonic ENSG00000143776 NA synonymous SNV ENSG00000143776:ENST00000366764:exon34:c.T4893C:p.S1631S,ENSG00000143776:ENST00000366767:exon34:c.T4734C:p.S1578S,ENSG00000143776:ENST00000366769:exon35:c.T4977C:p.S1659S,ENSG00000143776:ENST00000535525:exon35:c.T4917C:p.S1639S,ENSG00000143776:ENST00000334218:exon36:c.T5163C:p.S1721S,ENSG00000143776:ENST00000366765:exon36:c.T5016C:p.S1672S,ENSG00000143776:ENST00000366766:exon36:c.T5082C:p.S1694S NA NA 1q42.13 Score=704;Name=V$HOX13_01 NA NA NA rs1045247 0.86 0.86 0.872 0.826877 0.826 0.8274 0.8372 0.9803 0.6125 0.82 0.83 0.82 0.97 0.7983 0.97 . . . . . . . . 0.000 P . . . . -1.050 T 0.000 T . 0.486 6.639 -9.9 -3.340 -4.608 1.479 0.486445 NA NA 0.810349 0.943713 NA 0.935 NA 8.2320176 837 19 33882222 33882222 G A exonic PEPD NA synonymous SNV PEPD:NM_001166056:exon11:c.C1008T:p.H336H,PEPD:NM_001166057:exon11:c.C939T:p.H313H,PEPD:NM_000285:exon13:c.C1131T:p.H377H exonic ENSG00000124299 NA synonymous SNV ENSG00000124299:ENST00000397032:exon11:c.C1008T:p.H336H,ENSG00000124299:ENST00000436370:exon11:c.C939T:p.H313H,ENSG00000124299:ENST00000244137:exon13:c.C1131T:p.H377H Score=493;Name=lod=135 NA 19q13.11 Score=887;Name=V$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 837 X 85219021 85219021 T C exonic CHM NA synonymous SNV CHM:NM_000390:exon5:c.A351G:p.A117A exonic ENSG00000188419 NA synonymous SNV ENSG00000188419:ENST00000357749:exon5:c.A351G:p.A117A Score=489;Name=lod=129 NA Xq21.2 NA Name=c-Fos,FOSL2 Name=102 NA rs10217950 0.17 0.17 0.16534 NA NA NA NA NA NA 0.25 0.16 0.19 0.02 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 0.441545 NA NA 0.243609 0.039113 NA 0.087 NA 8.2315576 837 15 99511793 99511793 C G exonic PGPEP1L NA nonsynonymous SNV PGPEP1L:NM_001102612:exon5:c.G505C:p.E169Q,PGPEP1L:NM_001167902:exon5:c.G343C:p.E115Q exonic ENSG00000183571 NA nonsynonymous SNV ENSG00000183571:ENST00000378919:exon5:c.G505C:p.E169Q,ENSG00000183571:ENST00000535714:exon5:c.G343C:p.E115Q NA NA 15q26.3 NA NA NA NA rs1521484 0.44 0.44 0.434 0.443291 0.5726 0.4841 0.4914 0.1581 0.6196 0.56 0.49 0.5 0.17 0.5122 0.56 0.46 T 0.682 P 0.322 B 0.023 N 1.000 P 0.55 N 1.51 T -0.964 T 0.000 T 0.071 2.178 13.24 2.51 0.273 1.000 10.142 2.178331 2.178331 0.06 0.517554 0.209128 NA 0.261 NA 8.2309794 837 11 1272800 1272800 C T exonic MUC5B NA nonsynonymous SNV MUC5B:NM_002458:exon31:c.C14690T:p.S4897L exonic ENSG00000117983 NA nonsynonymous SNV ENSG00000117983:ENST00000447027:exon31:c.C14699T:p.S4900L,ENSG00000117983:ENST00000529681:exon31:c.C14690T:p.S4897L NA NA 11p15.5 NA NA NA NA rs55693520 0.02 0.02 0.013 0.028754 0.0378 0.002 0.0346 0.0038 0.0767 0.04 0.0017 0.04 0.002 0.0312 0.04 0 D 0.056 B 0.004 B . . 1.000 N 1.24 L 2.35 T -1.032 T 0.010 T 0.109 0.339 5.836 0.628 0.198 0.004 6.947 0.338504 NA NA 0.033938 0.008333 ID=COSM1475246,COSM428686;OCCURENCE=1(breast) 0.007 NA 8.2303954 837 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 837 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 837 5 33998883 33998883 A G exonic AMACR NA nonsynonymous SNV AMACR:NM_001167595:exon4:c.T602C:p.L201S,AMACR:NM_014324:exon4:c.T602C:p.L201S exonic ENSG00000242110 NA nonsynonymous SNV ENSG00000242110:ENST00000335606:exon4:c.T602C:p.L201S,ENSG00000242110:ENST00000382085:exon4:c.T602C:p.L201S,ENSG00000242110:ENST00000502637:exon4:c.T557C:p.L186S NA NA 5p13.2 NA NA NA NA rs2287939 0.76 0.76 0.766 0.714856 0.6928 0.8512 0.7118 0.8185 0.4591 0.69 0.86 0.75 0.77 0.6994 0.86 0.6 T 0.001 B 0.007 B 0.089 N 1.000 P 0.95 L 0.64 T -0.990 T 0.000 T 0.084 -1.523 0.016 -6.14 -1.333 -0.715 10.022 -1.523064 NA 0.3 0.713837 0.816614 NA 0.826 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116322.2;CLNDSDB=.;CLNDSDBID=. 8.2272964 837 3 154146922 154146922 A G exonic GPR149 NA synonymous SNV GPR149:NM_001038705:exon1:c.T483C:p.S161S exonic ENSG00000174948 NA synonymous SNV ENSG00000174948:ENST00000389740:exon1:c.T483C:p.S161S Score=403;Name=lod=58 NA 3q25.2 NA Name=SUZ12 Name=9 NA rs34792862 0.16 0.16 0.162 0.16254 0.1392 0.246 0.1974 0.112 0.1442 0.13 0.24 0.18 0.11 0.1606 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.782815 NA NA 0.140992 0.114965 NA 0.094 NA 8.2258746 837 1 156025096 156025096 C T exonic LAMTOR2 NA synonymous SNV LAMTOR2:NM_001145264:exon2:c.C111T:p.Y37Y,LAMTOR2:NM_014017:exon2:c.C111T:p.Y37Y exonic ENSG00000116586 NA synonymous SNV ENSG00000116586:ENST00000368302:exon2:c.C111T:p.Y37Y,ENSG00000116586:ENST00000368304:exon2:c.C111T:p.Y37Y,ENSG00000116586:ENST00000368305:exon2:c.C111T:p.Y37Y Score=431;Name=lod=75 NA 1q22 Score=824;Name=V$GR_Q6 NA Name=18 NA rs7541 0.08 0.08 0.08 0.0716853 0.1581 0.001 0.1297 0.0333 0.0665 0.15 NA 0.13 0.03 0.1203 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.801233 1.801233 NA 0.162791 0.057195 NA 0.094 NA 8.2254756 837 8 27324844 27324844 G A exonic CHRNA2 NA synonymous SNV CHRNA2:NM_000742:exon5:c.C351T:p.D117D exonic ENSG00000120903 NA synonymous SNV ENSG00000120903:ENST00000520933:exon4:c.C351T:p.D117D,ENSG00000120903:ENST00000240132:exon5:c.C306T:p.D102D,ENSG00000120903:ENST00000407991:exon5:c.C351T:p.D117D,ENSG00000120903:ENST00000523695:exon5:c.C351T:p.D117D Score=497;Name=lod=139 NA 8p21.2 Score=814;Name=V$COMP1_01 NA NA NA rs2565061 0.26 0.26 0.248 0.237819 0.1402 0.4177 0.2017 0.2579 0.1513 0.13 0.49 0.2 0.25 0.1701 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.223 NA NA 0.131047 0.237631 NA 0.196 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116711.2;CLNDSDB=.;CLNDSDBID=. 8.2253196 837 3 129275206 129275206 C T exonic PLXND1 NA synonymous SNV PLXND1:NM_015103:exon36:c.G5727A:p.Q1909Q exonic ENSG00000004399 NA synonymous SNV ENSG00000004399:ENST00000324093:exon36:c.G5727A:p.Q1909Q Score=517;Name=lod=168 NA 3q22.1 Score=950;Name=V$MYOD_01 NA Name=20 NA rs11920311 0.22 0.22 0.209 0.232628 0.1402 0.2103 0.2046 0.3306 0.2382 0.13 0.22 0.23 0.34 0.1679 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894625 NA NA 0.133372 0.280527 NA 0.377 NA 8.2251946 838 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 838 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=AP-2gamma,IRF1,Max,Mxi1_(bHLH),Sin3Ak-20,Pol2-4H8,HEY1,USF2,Pol2,USF-1 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 838 8 41553928 41553928 C G exonic ANK1 NA synonymous SNV ANK1:NM_000037:exon26:c.G2913C:p.L971L,ANK1:NM_020475:exon26:c.G2913C:p.L971L,ANK1:NM_020476:exon26:c.G2913C:p.L971L,ANK1:NM_020477:exon26:c.G2913C:p.L971L,ANK1:NM_001142446:exon27:c.G3036C:p.L1012L exonic ENSG00000029534 NA synonymous SNV ENSG00000029534:ENST00000289734:exon26:c.G2913C:p.L971L,ENSG00000029534:ENST00000347528:exon26:c.G2913C:p.L971L,ENSG00000029534:ENST00000352337:exon26:c.G2913C:p.L971L,ENSG00000029534:ENST00000379758:exon26:c.G2913C:p.L971L,ENSG00000029534:ENST00000396942:exon26:c.G2913C:p.L971L,ENSG00000029534:ENST00000396945:exon26:c.G2913C:p.L971L,ENSG00000029534:ENST00000265709:exon27:c.G3036C:p.L1012L Score=563;Name=lod=258 NA 8p11.21 NA NA NA NA rs504574 0.42 0.42 0.351 0.407149 0.494 0.5079 0.5461 0.1082 0.5194 0.5 0.49 0.53 0.11 0.4767 0.53 . . . . . . . . 0.000 P . . . . -0.900 T 0.000 T . 1.226 9.971 2.7 0.267 2.076 7.545 1.225504 NA NA 0.473592 0.146685 ID=COSM1457091,COSM454570;OCCURENCE=1(breast),1(large_intestine) 0.297 NA 8.2223746 838 4 159894277 159894277 T C exonic C4orf45 NA nonsynonymous SNV C4orf45:NM_152543:exon2:c.A251G:p.Y84C exonic ENSG00000164123 NA nonsynonymous SNV ENSG00000164123:ENST00000434826:exon2:c.A251G:p.Y84C NA NA 4q32.1 NA NA NA NA rs17037858 0.1 0.1 0.104 0.0826677 0.0338 0.2202 0.0274 0.0825 0.0307 0.03 0.22 0.04 0.12 0.0463 0.22 . . 0.019 B 0.015 B 0.071 N 1.000 P 2.25 M 2.28 T -1.028 T 0.000 T 0.187 0.794 8.18 1.65 0.431 -0.406 3.275 0.79363 NA 0.02 0.031373 0.060231 NA 0.065 NA 8.2218604 838 18 56204489 56204489 C G exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon5:c.G2930C:p.S977T exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon5:c.G2930C:p.S977T NA NA 18q21.32 NA Name=Pol2-4H8 NA NA rs3809975 0.06 0.06 0.048 0.0603035 0.0318 0.119 0.1441 0.0053 0.044 0.03 0.12 0.12 0.02 0.0499 0.12 0.18 T 0.017 B 0.021 B 0.004 N 1.000 P 1.32 L 0.74 T -1.084 T 0.002 T 0.029 1.525 11.05 0.184 0.315 -0.759 2.033 1.525298 1.525298 0 0.030233 0.007263 NA 0.043 NA 8.2214004 838 X 35820696 35820696 G A exonic MAGEB16 NA nonsynonymous SNV MAGEB16:NM_001099921:exon2:c.G383A:p.C128Y exonic ENSG00000189023 NA nonsynonymous SNV ENSG00000189023:ENST00000399985:exon2:c.G383A:p.C128Y,ENSG00000189023:ENST00000399988:exon2:c.G383A:p.C128Y,ENSG00000189023:ENST00000399989:exon2:c.G383A:p.C128Y,ENSG00000189023:ENST00000399987:exon3:c.G383A:p.C128Y,ENSG00000189023:ENST00000399992:exon3:c.G479A:p.C160Y NA NA Xp21.1 NA NA NA NA rs1410962 0.61 0.61 0.64229 NA NA NA NA NA NA 0.54 0.74 0.58 0.6 0.5768 0.74 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.09 N 3.66 T -0.972 T 0.000 T 0.049 -1.967 0.007 3.13 0.466 1.389 4.632 -1.966782 NA 1 0.536071 0.583834 NA 0.5 NA 8.2204624 838 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 838 19 16860558 16860558 G A exonic NWD1 NA nonsynonymous SNV NWD1:NM_001007525:exon6:c.G1105A:p.V369I exonic ENSG00000188039 NA nonsynonymous SNV ENSG00000188039:ENST00000339803:exon2:c.G700A:p.V234I,ENSG00000188039:ENST00000379808:exon4:c.G1105A:p.V369I,ENSG00000188039:ENST00000552788:exon4:c.G1105A:p.V369I,ENSG00000188039:ENST00000523826:exon5:c.G487A:p.V163I,ENSG00000188039:ENST00000549814:exon5:c.G1105A:p.V369I,ENSG00000188039:ENST00000524140:exon6:c.G1105A:p.V369I Score=410;Name=lod=62 NA 19p13.11 NA NA NA NA rs61733271 0.06 0.06 0.058 0.0658946 0.0288 0.0079 0.0274 0.1785 0.0389 0.03 0.0017 0.04 0.18 0.0471 0.18 0.63 T 0.17 B 0.149 B 0.000 N 0.519 P 0.83 L -1.05 T -1.098 T 0.001 T 0.083 -0.149 3.273 1.02 0.094 0.720 8.404 -0.148788 NA 0.51 0.037451 0.162279 NA 0.036 NA 8.2199824 838 3 183994447 183994447 C T exonic ECE2 NA nonsynonymous SNV ECE2:NM_001100120:exon2:c.C218T:p.T73I exonic ENSG00000145194 NA nonsynonymous SNV ENSG00000145194:ENST00000430587:exon1:c.C56T:p.T19I,ENSG00000145194:ENST00000357474:exon2:c.C218T:p.T73I Score=289;Name=lod=20 NA 3q27.1 NA NA NA NA rs13063766 0.02 0.02 0.016 0.0211661 0.0408 NA 0.0346 0.0023 0.0389 0.04 NA 0.04 0.002 0.0443 0.04 0.23 T 0.001 B 0.002 B 0.079 U 1.000 N 0 N -1.26 T -0.877 T 0.102 T 0.058 3.039 16.14 1.36 0.344 0.900 8.484 3.039338 3.039338 0.02 0.028279 0.005476 NA 0.014 NA 8.2199544 838 19 45448465 45448465 T G exonic APOC4 NA nonsynonymous SNV APOC4:NM_001646:exon3:c.T287G:p.L96R exonic ENSG00000224916,ENSG00000267467 NA nonsynonymous SNV ENSG00000224916:ENST00000419266:exon3:c.T287G:p.L96R,ENSG00000224916:ENST00000436871:exon3:c.T287G:p.L96R,ENSG00000224916:ENST00000585685:exon3:c.T287G:p.L96R,ENSG00000267467:ENST00000592954:exon3:c.T287G:p.L96R NA NA 19q13.32 NA NA NA NA rs5167 0.47 0.47 0.421 0.439297 0.3668 0.5724 0.4553 0.4569 0.3415 0.37 0.58 0.47 0.51 0.3892 0.58 1 T 0.0 B 0.0 B 0.014 N 1.000 P -1.75 N 2.23 T -0.948 T 0.000 T 0.081 -2.516 0.003 2.07 0.176 1.155 4.636 -2.515632 NA 1 0.35814 0.459147 NA 0.435 NA 8.2191934 838 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 838 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 838 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 838 14 50704331 50704331 C T intergenic SOS2,L2HGDH dist=6232;dist=4821 NA NA exonic ENSG00000087299 NA nonsynonymous SNV ENSG00000087299:ENST00000261699:exon10:c.G1309A:p.A437T Score=361;Name=lod=39 NA 14q21.3 NA NA Name=10 NA rs4901000 0.89 0.89 0.879 0.86861 0.8718 0.8869 0.9366 0.9138 0.7372 0.86 0.9 0.93 0.9 0.8762 0.93 1 T 0.0 B 0.0 B . . 0.395 P . . -3.02 D -0.908 T 0.000 T 0.005 0.331 5.792 -7.82 -1.522 -0.079 0.303 0.330523 NA 1 0.868527 0.910388 NA 0.862 NA 8.2168064 839 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 839 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 839 17 26824156 26824156 A G exonic SLC13A2 NA nonsynonymous SNV SLC13A2:NM_001145975:exon12:c.A1795G:p.I599V,SLC13A2:NM_003984:exon12:c.A1648G:p.I550V exonic ENSG00000007216 NA nonsynonymous SNV ENSG00000007216:ENST00000545060:exon11:c.A1519G:p.I507V,ENSG00000007216:ENST00000314669:exon12:c.A1648G:p.I550V,ENSG00000007216:ENST00000444914:exon12:c.A1795G:p.I599V,ENSG00000007216:ENST00000537681:exon14:c.A1435G:p.I479V Score=352;Name=lod=36 NA 17q11.2 NA NA NA NA rs11567842 0.46 0.46 0.446 0.473442 0.3698 0.3452 0.5346 0.6415 0.4417 0.35 0.39 0.53 0.67 0.4042 0.67 1 T 0.0 B 0.001 B 0.491 N 1.000 P -1.425 N 3.99 T -1.008 T 0.000 T 0.112 -1.114 0.131 3.21 0.590 0.555 8.120 -1.11377 NA 1 0.34593 0.57921 ID=COSM148219;OCCURENCE=1(stomach) 0.355 NA 8.2134034 839 6 35477032 35477032 A G exonic TULP1 NA nonsynonymous SNV TULP1:NM_003322:exon8:c.T776C:p.I259T exonic ENSG00000112041 NA nonsynonymous SNV ENSG00000112041:ENST00000322263:exon7:c.T617C:p.I206T,ENSG00000112041:ENST00000229771:exon8:c.T776C:p.I259T NA NA 6p21.31 NA NA NA NA rs2064317 0.38 0.38 0.336 0.39397 0.3648 0.499 0.3329 0.3449 0.4254 0.36 0.45 0.38 0.35 0.3843 0.45 1 T 0.001 B 0.0 B 0.748 N 1.000 P -1.525 N -1.25 T -1.057 T 0.039 T 0.159 -2.321 0.004 3.62 0.513 0.696 6.426 -2.320881 NA 0.93 0.37093 0.35497 ID=COSM150076;OCCURENCE=1(stomach) 0.377 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086077.1;CLNDSDB=.;CLNDSDBID=. 8.2133034 839 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 839 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 839 4 76836137 76836137 A G exonic NAAA NA nonsynonymous SNV NAAA:NM_014435:exon10:c.T1000C:p.F334L exonic ENSG00000138744 NA nonsynonymous SNV ENSG00000138744:ENST00000286733:exon10:c.T1000C:p.F334L NA NA 4q21.1 NA NA NA NA rs6823734 0.71 0.71 0.721 0.744409 0.7127 0.5387 0.6974 0.975 0.7106 0.7 0.51 0.73 0.97 0.7107 0.97 0.65 T 0.0 B 0.0 B 0.001 N 1.000 P -1.89 N 0.11 T -0.937 T 0.000 T 0.68 2.021 12.72 -7.99 -1.179 -1.111 5.437 2.021135 2.021135 0.61 0.698289 0.931496 ID=COSM1567262;OCCURENCE=1(large_intestine) 0.812 NA 8.2116444 839 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=ELF1_(SC-631),Sin3Ak-20 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 839 22 43558926 43558926 A G exonic TSPO NA nonsynonymous SNV TSPO:NM_000714:exon4:c.A439G:p.T147A,TSPO:NM_001256530:exon4:c.A439G:p.T147A,TSPO:NM_001256531:exon4:c.A439G:p.T147A exonic ENSG00000100300 NA nonsynonymous SNV ENSG00000100300:ENST00000396265:exon3:c.A158G:p.H53R,ENSG00000100300:ENST00000583777:exon3:c.A127G:p.T43A,ENSG00000100300:ENST00000329563:exon4:c.A439G:p.T147A,ENSG00000100300:ENST00000337554:exon4:c.A439G:p.T147A Score=259;Name=lod=15 NA 22q13.2 NA NA NA NA rs6971 0.82 0.82 0.801 0.828275 0.659 0.9534 0.8473 0.8298 0.8579 0.68 0.98 0.83 0.84 0.7763 0.98 1 T 0.0 B 0.0 B 0.000 N 0.993 P -3.15 N 1.65 T -0.973 T 0.000 T 0.073 -0.94 0.361 3.63 0.567 7.351 9.973 -0.939619 NA 1 0.687427 0.802458 ID=COSM445087;OCCURENCE=1(breast) 0.775 NA 8.2106064 839 22 19026613 19026613 A G exonic DGCR2 NA nonsynonymous SNV DGCR2:NM_001173533:exon9:c.T1295C:p.V432A,DGCR2:NM_001173534:exon9:c.T1286C:p.V429A,DGCR2:NM_001184781:exon10:c.T1409C:p.V470A,DGCR2:NM_005137:exon10:c.T1418C:p.V473A exonic ENSG00000070413 NA nonsynonymous SNV ENSG00000070413:ENST00000537045:exon9:c.T1295C:p.V432A,ENSG00000070413:ENST00000263196:exon10:c.T1418C:p.V473A,ENSG00000070413:ENST00000389262:exon11:c.T746C:p.V249A NA NA 22q11.21 NA NA NA NA rs2072123 0.39 0.39 0.37 0.43151 0.3559 0.3442 0.4078 0.5696 0.4294 0.36 0.34 0.4 0.52 0.3892 0.52 0.84 T 0.0 B 0.001 B 0.425 N 1.000 P -0.29 N 1.0 T -0.977 T 0.000 T 0.031 -0.885 0.469 -4.41 -1.523 -0.707 2.715 -0.885473 NA 0.61 0.378372 0.507493 NA 0.428 NA 8.2098614 839 1 186648197 186648197 C G exonic PTGS2 NA synonymous SNV PTGS2:NM_000963:exon3:c.G306C:p.V102V exonic ENSG00000073756 NA synonymous SNV ENSG00000073756:ENST00000367468:exon3:c.G306C:p.V102V,ENSG00000073756:ENST00000559627:exon3:c.G306C:p.V102V Score=444;Name=lod=85 NA 1q31.1 Score=809;Name=V$XBP1_01 NA Name=8 NA rs5277 0.09 0.09 0.082 0.0758786 0.1819 0.0437 0.1095 0.0129 0.0613 0.19 0.03 0.11 0.01 0.1207 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824114 NA NA 0.154302 0.03813 ID=COSM146712;OCCURENCE=1(stomach) 0.058 NA 8.2097646 839 17 51900729 51900729 C T exonic KIF2B NA nonsynonymous SNV KIF2B:NM_032559:exon1:c.C335T:p.A112V exonic ENSG00000141200 NA nonsynonymous SNV ENSG00000141200:ENST00000268919:exon1:c.C335T:p.A112V NA NA 17q22 NA NA NA NA rs3803824 0.24 0.24 0.219 0.210264 0.3847 0.2034 0.268 0.025 0.2474 0.4 0.17 0.29 0.03 0.329 0.41 0.48 T 0.006 B 0.01 B 0.085 N 1.000 P 0.895 L -0.91 T -0.996 T 0.000 T 0.058 -0.432 1.99 4.02 1.446 0.532 7.584 -0.432 NA 0.41 0.409884 0.085565 NA 0.203 NA 8.2097494 839 20 5903323 5903323 G A exonic CHGB NA nonsynonymous SNV CHGB:NM_001819:exon4:c.G533A:p.R178Q exonic ENSG00000089199 NA nonsynonymous SNV ENSG00000089199:ENST00000378961:exon4:c.G533A:p.R178Q,ENSG00000089199:ENST00000455042:exon5:c.G473A:p.R158Q NA NA 20p12.3 NA NA NA NA rs910122 0.41 0.41 0.371 0.416534 0.3489 0.5288 0.4942 0.2995 0.4734 0.35 0.52 0.43 0.35 0.4172 0.52 0.46 T 0.0 B 0.001 B 0.159 N 1.000 P 1.1 L 4.62 T -0.902 T 0.000 T 0.182 0.196 5.054 -11.1 -4.738 -1.898 1.671 0.195656 NA 0.32 0.357558 0.335452 NA 0.442 NA 8.2096754 839 10 90966546 90966546 C T exonic CH25H NA synonymous SNV CH25H:NM_003956:exon1:c.G504A:p.A168A exonic ENSG00000138135 NA synonymous SNV ENSG00000138135:ENST00000371852:exon1:c.G504A:p.A168A Score=525;Name=lod=181 NA 10q23.31 Score=707;Name=V$HOX13_01 Name=SUZ12 NA NA rs4078488 0.29 0.29 0.251 0.277157 0.1332 0.7351 0.2579 0.0083 0.3303 0.15 0.77 0.22 0.01 0.2133 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 1.364629 1.364629 NA 0.113372 0.025647 NA 0.167 NA 8.2067946 839 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 839 6 159672542 159672542 C T exonic FNDC1 NA synonymous SNV FNDC1:NM_032532:exon17:c.C5043T:p.A1681A exonic ENSG00000164694 NA synonymous SNV ENSG00000164694:ENST00000340366:exon16:c.C4854T:p.A1618A,ENSG00000164694:ENST00000297267:exon17:c.C5043T:p.A1681A Score=563;Name=lod=258 NA 6q25.3 Score=836;Name=V$GR_Q6 NA NA NA rs550443 0.22 0.22 0.214 0.219649 0.1382 0.3353 0.1772 0.1899 0.2546 0.13 0.35 0.16 0.23 0.1917 0.35 . . . . . . . . 0.000 P . . . . -1.036 T 0.036 T . 1.138 9.638 0.589 0.028 0.181 4.844 1.138209 NA NA 0.130315 0.180501 NA 0.116 NA 8.2064516 839 12 53662624 53662624 C A exonic ESPL1 NA nonsynonymous SNV ESPL1:NM_012291:exon2:c.C74A:p.A25D exonic ENSG00000135476 NA nonsynonymous SNV ENSG00000135476:ENST00000257934:exon2:c.C74A:p.A25D,ENSG00000135476:ENST00000552462:exon2:c.C74A:p.A25D,ENSG00000135476:ENST00000552671:exon2:c.C74A:p.A25D,ENSG00000135476:ENST00000553219:exon2:c.C74A:p.A25D NA NA 12q13.13 NA NA Name=11 NA rs6580942 0.83 0.83 0.862 0.888379 0.673 0.999 0.7954 0.9841 0.9325 0.65 1 0.78 0.97 0.7766 1 1 T 0.0 B 0.0 B 0.003 N 1.000 P -2.08 N 2.85 T -0.969 T 0.000 T 0.369 -0.653 1.127 4.79 0.492 3.448 11.304 -0.653471 NA 1 0.678488 0.938493 NA 0.754 NA 8.2052454 840 13 39430314 39430314 C T exonic FREM2 NA nonsynonymous SNV FREM2:NM_207361:exon12:c.C6977T:p.T2326I exonic ENSG00000150893 NA nonsynonymous SNV ENSG00000150893:ENST00000280481:exon12:c.C6977T:p.T2326I NA NA 13q13.3 NA NA NA NA rs9548509 0.77 0.77 0.776 0.771965 0.6889 0.9712 0.7911 0.7254 0.7014 0.67 0.98 0.74 0.73 0.7398 0.98 0.39 T 0.0 B 0.0 B 0.001 N 1.000 P -1.33 N 1.78 T -0.965 T 0.000 T 0.044 1.264 10.12 5.66 0.979 6.137 11.738 1.263681 1.263681 0.43 0.700465 0.763731 ID=COSM432379;OCCURENCE=1(breast) 0.783 NA 8.2041684 840 7 73275565 73275565 T A exonic WBSCR28 NA nonsynonymous SNV WBSCR28:NM_182504:exon1:c.T41A:p.I14N exonic ENSG00000175877 NA nonsynonymous SNV ENSG00000175877:ENST00000320531:exon1:c.T41A:p.I14N,ENSG00000175877:ENST00000426490:exon1:c.T41A:p.I14N NA NA 7q11.23 NA NA NA NA rs11770052 0.58 0.58 0.539 0.544728 0.7256 0.63 0.6037 0.2852 0.5798 0.73 0.62 0.59 0.29 0.6563 0.75 0.06 T 0.835 P 0.576 P 0.219 N 1.000 P 0.805 L 1.97 T -1.097 T 0.000 T 0.256 -0.778 0.735 3.07 0.805 2.013 5.633 -0.778461 NA 0.31 0.747568 0.389241 NA 0.362 NA 8.2038654 840 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=MafK_(SC-477),MafF_(M8194),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 840 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),Rad21,CTCF 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 840 11 76637651 76637651 G A exonic ACER3 NA nonsynonymous SNV ACER3:NM_018367:exon2:c.G154A:p.V52I exonic ENSG00000078124 NA nonsynonymous SNV ENSG00000078124:ENST00000278544:exon2:c.G154A:p.V52I,ENSG00000078124:ENST00000525861:exon2:c.G154A:p.V52I,ENSG00000078124:ENST00000531461:exon2:c.G154A:p.V52I,ENSG00000078124:ENST00000532485:exon2:c.G154A:p.V52I,ENSG00000078124:ENST00000534206:exon2:c.G28A:p.V10I,ENSG00000078124:ENST00000538157:exon3:c.G28A:p.V10I Score=571;Name=lod=278 NA 11q13.5 NA NA NA NA rs4379869 0.64 0.64 0.682 0.629593 0.7167 0.5903 0.5058 0.6437 0.6493 0.72 0.61 0.51 0.64 0.6785 0.74 0.48 T 0.0 B 0.0 B 0.004 N 0.000 P -1.095 N 1.01 T -0.997 T 0.000 T 0.161 0.074 4.399 2.15 0.103 1.020 5.163 0.073629 NA 1 0.736021 0.644318 ID=COSM1579474;OCCURENCE=1(ovary) 0.63 NA 8.2021124 840 6 43188940 43188940 C T exonic CUL9 NA synonymous SNV CUL9:NM_015089:exon34:c.C6633T:p.D2211D exonic ENSG00000112659 NA synonymous SNV ENSG00000112659:ENST00000354495:exon32:c.C6303T:p.D2101D,ENSG00000112659:ENST00000252050:exon34:c.C6633T:p.D2211D,ENSG00000112659:ENST00000372647:exon34:c.C6549T:p.D2183D Score=605;Name=lod=383 NA 6p21.1 Score=815;Name=V$SREBP1_02 NA Name=3 NA rs6917902 0.19 0.19 0.207 0.207268 0.1342 0.0179 0.1686 0.4947 0.1166 0.14 0.02 0.17 0.48 0.1609 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.625625 NA NA 0.170116 0.457104 NA 0.181 NA 8.2014506 840 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 840 7 139757712 139757712 C A exonic PARP12 NA nonsynonymous SNV PARP12:NM_022750:exon2:c.G449T:p.W150L exonic ENSG00000059378 NA nonsynonymous SNV ENSG00000059378:ENST00000263549:exon2:c.G449T:p.W150L,ENSG00000059378:ENST00000473341:exon2:c.G449T:p.W150L NA NA 7q34 NA NA NA NA rs61729681 0.03 0.03 0.02 0.0201677 0.0497 NA 0.0317 0.0166 0.0072 0.05 NA 0.03 0.01 0.0325 0.051 0.61 T 0.0 B 0.001 B 0.131 N 1.000 N -0.345 N 1.76 T -1.044 T 0.004 T 0.189 0.369 6.004 -3.13 -0.483 -0.090 3.393 0.36917 NA 0.65 0.050465 0.024512 NA NA NA 8.2006684 840 19 17088299 17088299 T C exonic CPAMD8 NA nonsynonymous SNV CPAMD8:NM_015692:exon15:c.A1778G:p.H593R exonic ENSG00000160111 NA nonsynonymous SNV ENSG00000160111:ENST00000443236:exon15:c.A1778G:p.H593R NA NA 19p13.11 NA NA NA NA rs1824152 0.52 0.52 0.564 0.566893 0.3777 0.5625 0.3963 0.9213 0.408 0.35 0.53 0.38 0.84 0.415 0.84 0.55 T 0.0 B 0.001 B 0.955 N 0.000 P 0.02 N . . -1.061 T 0.000 T 0.024 -2.965 0.001 -5.24 -3.135 -0.493 8.272 -2.964973 NA 0.81 0.341266 0.793024 NA 0.514 NA 8.1993674 840 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 840 1 46521559 46521559 A T exonic PIK3R3 NA nonsynonymous SNV PIK3R3:NM_003629:exon7:c.T849A:p.N283K,PIK3R3:NM_001114172:exon8:c.T849A:p.N283K exonic ENSG00000117461 NA nonsynonymous SNV ENSG00000117461:ENST00000262741:exon7:c.T849A:p.N283K,ENSG00000117461:ENST00000540385:exon7:c.T987A:p.N329K,ENSG00000117461:ENST00000372006:exon8:c.T849A:p.N283K,ENSG00000117461:ENST00000420542:exon8:c.T849A:p.N283K Score=730;Name=lod=1230 NA 1p34.1 NA NA NA NA rs785467 0.71 0.71 0.706 0.682109 0.7346 0.6885 0.6412 0.7474 0.5624 0.73 0.68 0.68 0.74 0.694 0.74 1 T 0.0 B 0.001 B 0.000 N 0.000 P -1.6 N 1.75 T -0.960 T 0.000 T 0.048 -0.062 3.697 3.95 0.898 1.159 6.246 -0.062398 NA 1 0.70814 0.738084 NA 0.587 NA 8.1965934 840 2 214727221 214727221 A C exonic SPAG16 NA nonsynonymous SNV SPAG16:NM_024532:exon11:c.A1083C:p.Q361H exonic ENSG00000144451 NA nonsynonymous SNV ENSG00000144451:ENST00000451561:exon2:c.A141C:p.Q47H,ENSG00000144451:ENST00000374309:exon9:c.A801C:p.Q267H,ENSG00000144451:ENST00000331683:exon11:c.A1083C:p.Q361H Score=317;Name=lod=26 NA 2q34 NA Name=ERalpha_a NA NA rs2042791 0.38 0.38 0.347 0.384185 0.3688 0.501 0.4006 0.205 0.5102 0.38 0.51 0.37 0.22 0.3904 0.51 0.38 T 0.0 B 0.0 B 0.008 N 0.000 P -1.935 N 0.37 T -0.907 T 0.000 T 0.185 -1.963 0.007 -1.4 -0.330 -0.692 7.967 -1.962849 NA 1 0.377907 0.228779 ID=COSM149057;OCCURENCE=1(stomach) 0.326 NA 8.1962264 840 6 74073531 74073531 C G exonic KHDC3L NA nonsynonymous SNV KHDC3L:NM_001017361:exon3:c.C602G:p.A201G exonic ENSG00000203908 NA nonsynonymous SNV ENSG00000203908:ENST00000370367:exon3:c.C602G:p.A201G NA NA 6q13 NA NA NA NA rs561930 0.49 0.49 0.469 0.488419 0.5716 0.5397 0.4452 0.3064 0.6268 0.58 0.55 0.46 0.31 0.5198 0.58 0.05 D 0.997 D 0.894 P 0.711 N 1.000 P 1.7 L 0.68 T -1.032 T 0.121 T 0.064 1.829 12.08 -0.555 -0.130 0.426 8.027 1.829348 1.829348 0.13 0.546047 0.36768 NA 0.63 NA 8.1958864 840 18 72103782 72103782 T C exonic FAM69C NA nonsynonymous SNV FAM69C:NM_001044369:exon4:c.A1214G:p.Q405R exonic ENSG00000187773 NA nonsynonymous SNV ENSG00000187773:ENST00000400291:exon3:c.A317G:p.Q106R,ENSG00000187773:ENST00000343998:exon4:c.A1214G:p.Q405R NA NA 18q22.3 NA NA NA NA rs2278154 0.33 0.33 0.277 0.335064 0.3797 0.2589 0.2997 0.3419 0.3834 0.37 0.27 0.32 0.35 0.3741 0.38 0.61 T 0.0 B 0.0 B 0.088 N 1.000 P -1.59 N . . -0.946 T 0.000 T 0.016 -0.507 1.68 4.08 0.639 1.315 8.528 -0.50674 NA 0.16 0.383822 0.318064 NA 0.348 NA 8.1957114 840 13 42404710 42404710 C T exonic VWA8 NA nonsynonymous SNV VWA8:NM_001009814:exon14:c.G1655A:p.R552H,VWA8:NM_015058:exon14:c.G1655A:p.R552H exonic ENSG00000102763 NA nonsynonymous SNV ENSG00000102763:ENST00000281496:exon14:c.G1655A:p.R552H,ENSG00000102763:ENST00000379310:exon14:c.G1655A:p.R552H NA NA 13q14.11 NA NA NA NA rs41288297 0.03 0.03 0.036 0.0453275 0.0417 NA 0.0389 0.087 0.044 0.04 NA 0.03 0.07 0.0454 0.09 0.17 T 0.002 B 0.009 B 0.182 N 1.000 N 0 N 2.92 T -0.968 T 0.001 T 0.054 1.841 12.11 2.3 0.904 0.837 4.299 1.840629 1.840629 0.41 0.05093 0.089877 NA 0.058 NA 8.1953034 841 21 31973525 31973525 A G exonic KRTAP22-1 NA nonsynonymous SNV KRTAP22-1:NM_181620:exon1:c.A86G:p.Y29C exonic ENSG00000186924 NA nonsynonymous SNV ENSG00000186924:ENST00000334680:exon1:c.A86G:p.Y29C NA NA 21q22.11 NA NA NA NA rs724849 0.02 0.02 0.018 0.0191693 0.0527 NA 0.0375 0.003 0.0133 0.05 0.0017 0.03 0.002 0.0352 0.051 0 D 0.265 B 0.049 B 0.001 N 1.000 N . . 0.65 T -1.074 T 0.014 T 0.211 1.395 10.6 0.45 -0.020 0.449 3.678 1.39529 1.39529 NA 0.050698 0.010894 NA 0.022 NA 8.1947354 841 2 204732714 204732714 A G exonic CTLA4 NA nonsynonymous SNV CTLA4:NM_001037631:exon1:c.A49G:p.T17A,CTLA4:NM_005214:exon1:c.A49G:p.T17A exonic ENSG00000163599 NA nonsynonymous SNV ENSG00000163599:ENST00000295854:exon1:c.A49G:p.T17A,ENSG00000163599:ENST00000302823:exon1:c.A49G:p.T17A,ENSG00000163599:ENST00000472206:exon1:c.A49G:p.T17A NA NA 2q33.2 NA NA NA NA rs231775 0.45 0.45 0.422 0.427316 0.3588 0.6369 0.4625 0.388 0.3098 0.36 0.64 0.41 0.4 0.4112 0.64 0.09 T 0.015 B 0.006 B 0.072 N 1.000 P 1.1 L 1.73 T -0.908 T 0.000 T 0.086 -0.813 0.643 -2.84 -0.514 -0.318 4.360 -0.812512 NA 0.16 0.369302 0.369723 NA 0.348 CLINSIG=other|other|other|other|other;CLNDBN=Hashimoto_thyroiditis\x2c_susceptibility_to|Thyroid-associated_orbitopathy\x2c_susceptibility_to|Systemic_lupus_erythematosus\x2c_susceptibility_to|Diabetes_mellitus\x2c_insulin-dependent\x2c_susceptibility_to|Celiac_disease_3;CLNREVSTAT=single|single|single|single|single;CLNACC=RCV000018423.1|RCV000018424.1|RCV000018425.1|RCV000018426.1|RCV000018427.1;CLNDSDB=.|.|.|.|MedGen:OMIM;CLNDSDBID=.|.|.|.|C1857845:609755 8.1940314 841 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 841 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 841 10 113940329 113940329 T C exonic GPAM NA nonsynonymous SNV GPAM:NM_001244949:exon4:c.A127G:p.I43V,GPAM:NM_020918:exon4:c.A127G:p.I43V exonic ENSG00000119927 NA nonsynonymous SNV ENSG00000119927:ENST00000348367:exon4:c.A127G:p.I43V,ENSG00000119927:ENST00000369425:exon4:c.A127G:p.I43V,ENSG00000119927:ENST00000423155:exon4:c.A127G:p.I43V Score=528;Name=lod=187 NA 10q25.2 NA NA NA NA rs2792751 0.76 0.76 0.784 0.806909 0.6918 0.7629 0.6671 0.9561 0.8681 0.68 0.74 0.68 0.95 0.7428 0.95 1 T 0.0 B 0.0 B 0.005 N 1.000 P -1.67 N 1.78 T -0.990 T 0.000 T 0.017 -1.554 0.015 2.8 0.013 1.587 4.281 -1.553994 NA 1 0.706512 0.926237 NA 0.688 NA 8.1922214 841 1 47609489 47609489 T C exonic CYP4A22 NA nonsynonymous SNV CYP4A22:NM_001010969:exon6:c.T691C:p.C231R exonic ENSG00000162365 NA nonsynonymous SNV ENSG00000162365:ENST00000294337:exon6:c.T691C:p.C231R,ENSG00000162365:ENST00000371891:exon6:c.T691C:p.C231R NA NA 1p33 NA Name=CTCF,CTCF_(C-20),CTCF_(SC-5916) Name=11 NA rs10789501 0.54 0.54 0.564 0.580671 0.3489 0.9335 0.464 0.5015 0.6452 0.34 0.94 0.42 0.49 0.4542 0.94 1 T 0.0 B 0.0 B 0.000 N 0.918 P -3.89 N -0.17 T -0.930 T 0.000 T 0.074 -2.443 0.003 1.94 0.188 0.053 3.806 -2.442517 NA 1 0.338023 0.496369 NA 0.442 NA 8.1922104 841 17 39912145 39912145 T A exonic JUP NA nonsynonymous SNV JUP:NM_002230:exon14:c.A2089T:p.M697L,JUP:NM_021991:exon14:c.A2089T:p.M697L exonic ENSG00000173801 NA nonsynonymous SNV ENSG00000173801:ENST00000310706:exon14:c.A2089T:p.M697L,ENSG00000173801:ENST00000393930:exon14:c.A2089T:p.M697L,ENSG00000173801:ENST00000393931:exon14:c.A2089T:p.M697L Score=470;Name=lod=108 NA 17q21.2 NA NA NA NA rs1126821 0.57 0.57 0.58 0.58726 0.7435 0.3452 0.5231 0.5719 0.7423 0.73 0.37 0.56 0.56 0.6592 0.74 0.73 T 0.0 B 0.0 B 0.081 N 0.000 P 0.69 N 0.31 T -0.959 T 0.000 T 0.106 0.033 4.187 1.12 0.317 0.962 12.111 0.033281 NA 0.74 0.73907 0.614843 NA 0.558 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Naxos_disease|not_specified|not_provided;CLNREVSTAT=single|single|single;CLNACC=RCV000020467.1|RCV000039075.1|RCV000126389.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.|.;CLNDSDBID=NBK1131:C1832600:601214:ORPHA34217|.|. 8.1915634 841 6 31603770 31603770 A G exonic PRRC2A NA synonymous SNV PRRC2A:NM_004638:exon25:c.A5568G:p.Q1856Q,PRRC2A:NM_080686:exon25:c.A5568G:p.Q1856Q exonic ENSG00000204469 NA synonymous SNV ENSG00000204469:ENST00000376007:exon25:c.A5568G:p.Q1856Q,ENSG00000204469:ENST00000376033:exon25:c.A5568G:p.Q1856Q Score=423;Name=lod=70 NA 6p21.33 NA NA NA NA rs11229 0.13 0.13 0.133 0.133387 0.1461 0.0714 0.0793 0.2126 0.1155 0.15 0.06 0.08 0.23 0.1508 0.23 0 D . . . . . . 0.000 P . . . . -1.028 T 0.082 T . 0.643 7.453 0.33 -0.122 0.221 7.545 0.642991 NA 0.46 0.179302 0.199728 NA 0.21 NA 8.1904646 841 18 61377579 61377579 A C exonic SERPINB11 NA unknown UNKNOWN exonic ENSG00000206072 NA nonsynonymous SNV ENSG00000206072:ENST00000538847:exon2:c.A152C:p.E51A Score=439;Name=lod=81 NA 18q21.33 NA NA NA NA rs1395268 0.85 0.85 0.836 0.832867 0.8111 0.9008 0.8602 0.8018 0.8078 0.83 0.9 0.86 0.82 0.8364 0.9 1 T 0.0 B 0.0 B 0.000 N 0.000 P . . -1.73 D -0.937 T 0.000 T 0.086 -1.841 0.009 4.25 0.640 1.329 10.287 -1.841158 NA NA 0.829236 0.795139 NA 0.891 NA 8.1899307 841 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 841 12 11150046 11150046 G T exonic TAS2R20 NA nonsynonymous SNV TAS2R20:NM_176889:exon1:c.C429A:p.H143Q exonic ENSG00000255837 NA nonsynonymous SNV ENSG00000255837:ENST00000538986:exon1:c.C429A:p.H143Q NA NA 12p13.2 NA NA NA NA rs12226920 0.41 0.41 0.377 0.423123 0.3827 0.755 0.3847 0.0651 0.6339 0.37 0.74 0.43 0.07 0.4113 0.74 0.32 T 0.011 B 0.042 B 0.604 N 1.000 P 0.49 N 1.25 T -0.967 T 0.000 T 0.023 0.042 4.234 -4.77 -0.884 -1.459 0.879 0.042417 NA 0.25 0.350349 0.100091 NA 0.355 NA 8.1889844 841 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 841 2 102968356 102968356 C T exonic IL1RL1 NA nonsynonymous SNV IL1RL1:NM_016232:exon11:c.C1646T:p.T549I exonic ENSG00000115602 NA nonsynonymous SNV ENSG00000115602:ENST00000233954:exon11:c.C1646T:p.T549I NA NA 2q12.1 Score=747;Name=V$ROAZ_01 NA NA NA rs10192157 0.4 0.4 0.416 0.385184 0.4046 0.125 0.2853 0.7542 0.2055 0.41 0.15 0.31 0.76 0.3525 0.76 0.19 T 0.063 B 0.023 B 0.095 N 1.000 P 0 N 0.24 T -0.937 T 0.000 T 0.04 1.922 12.38 -0.89 0.016 -2.384 3.239 1.921603 1.921603 0.01 0.387558 0.699409 NA 0.413 NA 8.1886754 841 1 223567401 223567401 T C exonic C1orf65 NA nonsynonymous SNV C1orf65:NM_152610:exon1:c.T584C:p.V195A exonic ENSG00000178395 NA nonsynonymous SNV ENSG00000178395:ENST00000366875:exon1:c.T584C:p.V195A NA NA 1q41 NA NA NA NA rs6689850 0.06 0.06 0.056 0.0804712 0.0408 0.13 0.0634 0.0825 0.0798 0.04 0.12 0.05 0.05 0.066 0.12 0.3 T 0.02 B 0.013 B . . 1.000 P 1.78 L 1.94 T -0.992 T 0.001 T 0.067 1.488 10.92 -1.26 -0.456 -0.987 0.846 1.488263 1.488263 0.15 0.038488 0.08148 NA 0.022 NA 8.1880454 841 16 334732 334732 C T exonic PDIA2 NA synonymous SNV PDIA2:NM_006849:exon3:c.C480T:p.D160D exonic ENSG00000185615 NA synonymous SNV ENSG00000185615:ENST00000219406:exon3:c.C480T:p.D160D,ENSG00000185615:ENST00000404312:exon3:c.C480T:p.D160D NA NA 16p13.3 NA NA NA NA rs45593734 0.11 0.11 0.121 0.127796 0.16 0.0962 0.0994 0.0862 0.2035 0.16 0.09 0.11 0.07 0.1639 0.16 . . . . . . . . 0.997 P . . . . -1.026 T 0.000 T . -1.157 0.097 -3.55 -0.782 -2.516 3.423 -1.157292 NA NA 0.155264 0.080039 NA 0.13 NA 8.1875026 841 3 33195284 33195284 G A exonic SUSD5 NA synonymous SNV SUSD5:NM_015551:exon5:c.C840T:p.P280P exonic ENSG00000173705 NA synonymous SNV ENSG00000173705:ENST00000309558:exon5:c.C840T:p.P280P NA NA 3p22.3 NA NA NA NA rs61743511 0.15 0.15 0.131 0.161741 0.1541 0.1905 0.1758 0.0862 0.2321 0.15 0.2 0.18 0.09 0.1649 0.2 0.52 T . . . . 0.006 N 1.000 P . . 2.81 T -0.925 T 0.000 T . -1.843 0.009 2.99 0.418 1.206 4.468 -1.842924 NA NA 0.160247 0.090198 ID=COSM149350;OCCURENCE=1(stomach) 0.152 NA 8.1874196 841 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 841 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$FOXJ2_02 NA Name=5 NA rs3812179 0.26 0.26 0.225 0.235224 0.2247 0.2679 0.3256 0.3116 0.045 0.22 0.24 0.29 0.3 0.2126 0.3 1 T 0.0 B 0.0 B . . 1.000 P . . 0.9 T -0.968 T 0.012 T 0.043 -2.025 0.006 2.87 0.362 0.791 2.312 -2.02473 NA 1 0.210233 0.28098 ID=COSM150036;OCCURENCE=1(stomach),1(lung) 0.297 NA 8.1858004 841 19 36594853 36594853 G A exonic WDR62 NA nonsynonymous SNV WDR62:NM_001083961:exon30:c.G4123A:p.G1375S,WDR62:NM_173636:exon30:c.G4108A:p.G1370S exonic ENSG00000075702 NA nonsynonymous SNV ENSG00000075702:ENST00000270301:exon30:c.G4108A:p.G1370S,ENSG00000075702:ENST00000401500:exon30:c.G4123A:p.G1375S NA NA 19q13.12 Score=828;Name=V$CEBP_C NA NA NA rs17851503 0.03 0.03 0.033 0.0203674 0.0636 NA 0.0259 0.003 0.0164 0.06 NA 0.03 0.01 0.039 0.06 1 T 0.001 B 0.001 B 0.459 N 1.000 N -1.04 N 1.35 T -1.014 T 0.003 T 0.004 -0.759 0.791 -1.55 -0.153 -0.076 3.814 -0.758921 NA 1 0.045349 0.008625 NA 0.065 NA 8.1853844 841 2 67630980 67630980 G A exonic ETAA1 NA nonsynonymous SNV ETAA1:NM_019002:exon5:c.G1166A:p.S389N exonic ENSG00000143971 NA nonsynonymous SNV ENSG00000143971:ENST00000272342:exon5:c.G1166A:p.S389N Score=378;Name=lod=46 NA 2p14 NA NA NA NA rs3770657 0.72 0.72 0.735 0.732827 0.7296 0.5685 0.719 0.8699 0.7301 0.73 0.57 0.73 0.87 0.703 0.87 1 T 0.0 B 0.0 B 0.002 N 1.000 P -1.1 N 2.5 T -0.980 T 0.000 T 0.022 -2.185 0.005 3.4 0.125 2.213 8.824 -2.185214 NA 1 0.715383 0.851566 ID=COSM148867;OCCURENCE=1(stomach) 0.775 NA 8.1853504 842 10 68040325 68040325 C T exonic CTNNA3 NA nonsynonymous SNV CTNNA3:NM_001127384:exon13:c.G1787A:p.S596N,CTNNA3:NM_013266:exon13:c.G1787A:p.S596N exonic ENSG00000183230 NA nonsynonymous SNV ENSG00000183230:ENST00000373744:exon12:c.G1787A:p.S596N,ENSG00000183230:ENST00000433211:exon13:c.G1787A:p.S596N Score=369;Name=lod=42 NA 10q21.3 NA NA NA NA rs4548513 0.47 0.47 0.476 0.485024 0.3748 0.4187 0.4121 0.7269 0.3916 0.37 0.42 0.43 0.72 0.412 0.72 1 T 0.0 B 0.001 B 0.001 N 0.004 P -1.645 N 1.27 T -0.935 T 0.000 T 0.035 -1.455 0.019 3.16 0.069 0.882 7.512 -1.454724 NA 1 0.362093 0.670449 NA 0.355 NA 8.1844404 842 16 1536535 1536535 C T exonic PTX4 NA nonsynonymous SNV PTX4:NM_001013658:exon3:c.G827A:p.R276K exonic ENSG00000251692 NA nonsynonymous SNV ENSG00000251692:ENST00000293922:exon3:c.G827A:p.R276K,ENSG00000251692:ENST00000440447:exon3:c.G397A:p.G133R,ENSG00000251692:ENST00000447419:exon3:c.G842A:p.R281K NA NA 16p13.3 NA NA Name=2 NA rs2745098 0.49 0.49 0.504 0.496406 0.3738 0.5238 0.3228 0.7474 0.3783 0.4 0.56 0.32 0.7 0.4069 0.7 1 T 0.0 B 0.0 B 0.262 N 1.000 P -0.625 N 0.03 T -0.916 T 0.000 T 0.016 0.519 6.812 4.48 0.396 0.247 6.128 0.518886 NA 0.34 0.368488 0.674852 NA 0.601 NA 8.1841454 842 10 33552695 33552695 C T exonic NRP1 NA synonymous SNV NRP1:NM_001024628:exon4:c.G537A:p.V179V,NRP1:NM_001024629:exon4:c.G537A:p.V179V,NRP1:NM_001244972:exon4:c.G537A:p.V179V,NRP1:NM_001244973:exon4:c.G537A:p.V179V,NRP1:NM_003873:exon4:c.G537A:p.V179V exonic ENSG00000099250 NA synonymous SNV ENSG00000099250:ENST00000374816:exon4:c.G537A:p.V179V,ENSG00000099250:ENST00000374821:exon4:c.G537A:p.V179V,ENSG00000099250:ENST00000374822:exon4:c.G537A:p.V179V,ENSG00000099250:ENST00000374823:exon4:c.G537A:p.V179V,ENSG00000099250:ENST00000374867:exon4:c.G537A:p.V179V,ENSG00000099250:ENST00000395995:exon4:c.G537A:p.V179V,ENSG00000099250:ENST00000265371:exon5:c.G537A:p.V179V Score=662;Name=lod=653 NA 10p11.22 NA Name=p300,GATA-2,GR,c-Fos Name=74 NA rs2070296 0.23 0.23 0.251 0.284145 0.162 0.4623 0.2003 0.3222 0.2342 0.12 0.4 0.15 0.23 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 0.656827 NA NA 0.117326 0.238311 NA NA NA 8.1836406 842 6 656143 656143 C A exonic HUS1B NA nonsynonymous SNV HUS1B:NM_148959:exon1:c.G802T:p.D268Y exonic ENSG00000188996 NA nonsynonymous SNV ENSG00000188996:ENST00000380907:exon1:c.G802T:p.D268Y Score=417;Name=lod=66 NA 6p25.3 NA NA NA NA rs1211554 0.78 0.78 0.75 0.740016 0.8996 0.8581 0.8718 0.4266 0.7843 0.91 0.84 0.87 0.43 0.8489 0.91 0.02 D 0.664 P 0.331 B 0.000 U 0.000 P 1.645 L 2.55 T -1.016 T 0.012 T 0.274 1.363 10.48 -0.327 -0.203 2.279 3.142 1.362715 1.362715 0 0.902326 0.486155 NA 0.696 NA 8.1825074 842 9 134386744 134386744 T C exonic POMT1 NA synonymous SNV POMT1:NM_001136114:exon8:c.T525C:p.T175T,POMT1:NM_001077366:exon9:c.T714C:p.T238T,POMT1:NM_001077365:exon10:c.T876C:p.T292T,POMT1:NM_001136113:exon10:c.T876C:p.T292T,POMT1:NM_007171:exon10:c.T942C:p.T314T exonic ENSG00000130714 NA nonsynonymous SNV ENSG00000130714:ENST00000415075:exon7:c.T268C:p.S90P Score=474;Name=lod=113 NA 9q34.13 NA NA NA NA rs10901065 0.87 0.87 0.86 0.870807 0.9423 0.9246 0.8343 0.7179 0.9744 0.94 0.92 0.86 0.71 0.9231 0.95 0.04 D . . . . . . 0.000 P . . -2.9 D -0.978 T 0.000 T . 1.082 9.415 0.213 -0.485 -1.726 1.029 1.081633 NA 0.08 0.952209 0.740581 NA 0.928 NA 8.182391 842 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 842 6 166739646 166739646 T C exonic SFT2D1 NA nonsynonymous SNV SFT2D1:NM_145169:exon5:c.A325G:p.I109V exonic ENSG00000198818 NA nonsynonymous SNV ENSG00000198818:ENST00000361731:exon5:c.A325G:p.I109V NA NA 6q27 NA NA NA NA rs11551053 0.13 0.13 0.129 0.111222 0.0398 0.3313 0.0793 0.0356 0.0828 0.04 0.35 0.07 0.04 0.0771 0.35 1 T 0.0 B 0.001 B 0.355 N 1.000 P -0.39 N 0.32 T -1.014 T 0.019 T 0.044 -2.803 0 -1.34 -0.259 -1.557 5.491 -2.803354 NA 1 0.035349 0.033364 ID=COSM42929;OCCURENCE=1(central_nervous_system) 0.123 NA 8.1810844 842 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 842 13 25009297 25009297 G T exonic PARP4 NA nonsynonymous SNV PARP4:NM_006437:exon31:c.C3982A:p.P1328T exonic ENSG00000102699 NA nonsynonymous SNV ENSG00000102699:ENST00000381989:exon31:c.C3982A:p.P1328T NA NA 13q12.12 NA NA NA NA rs1050112 0.39 0.39 0.381 0.384984 0.4115 0.3601 0.3473 0.4849 0.2751 0.41 0.32 0.33 0.46 0.3687 0.47 0.54 T 0.007 B 0.007 B 0.000 U 1.000 P 0.345 N 4.68 T -0.938 T 0.000 T 0.07 -1.123 0.123 -4.69 -1.483 0.632 8.791 -1.122756 NA 0.89 0.372558 0.470949 NA 0.355 NA 8.1805754 842 X 118587003 118587003 C T exonic SLC25A43 NA nonsynonymous SNV SLC25A43:NM_145305:exon5:c.C1001T:p.P334L exonic ENSG00000077713 NA nonsynonymous SNV ENSG00000077713:ENST00000217909:exon5:c.C1001T:p.P334L NA NA Xq24 NA NA NA NA rs3810755 0.55 0.55 0.54134 NA NA NA NA NA NA 0.56 0.51 0.52 0.58 0.5745 0.6 0.87 T 0.0 B 0.0 B . . 0.103 P -1.5 N -1.01 T -0.936 T 0.000 T 0.103 0.086 4.463 5.24 0.653 3.893 9.581 0.085769 NA 1 0.579605 0.598435 NA 0.399 NA 8.1792284 842 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 842 10 119043554 119043554 C T exonic PDZD8 NA nonsynonymous SNV PDZD8:NM_173791:exon5:c.G2690A:p.R897Q exonic ENSG00000165650 NA nonsynonymous SNV ENSG00000165650:ENST00000334464:exon5:c.G2690A:p.R897Q NA NA 10q25.3 NA NA NA NA rs363294 0.03 0.03 0.029 0.0325479 0.0487 0.0139 0.036 0.003 0.0726 0.04 0.02 0.05 0.0041 0.0497 0.057 0.14 T 0.009 B 0.005 B 0.004 N 1.000 N 0.805 L -2.11 D -0.854 T 0.083 T 0.057 1.714 11.69 1.73 0.337 0.848 10.257 1.713766 1.713766 0.28 0.057442 0.009079 NA 0.051 NA 8.1774914 842 2 69741801 69741801 C T exonic AAK1 NA synonymous SNV AAK1:NM_014911:exon13:c.G1578A:p.Q526Q exonic ENSG00000115977 NA synonymous SNV ENSG00000115977:ENST00000406297:exon13:c.G1578A:p.Q526Q,ENSG00000115977:ENST00000409068:exon13:c.G1578A:p.Q526Q,ENSG00000115977:ENST00000409085:exon13:c.G1578A:p.Q526Q Score=551;Name=lod=232 NA 2p13.3 NA Name=CTCF Name=95 NA rs6757825 0.13 0.13 0.133 0.137979 0.1869 0.0744 0.0994 0.1452 0.1708 0.18 0.07 0.12 0.15 0.1422 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77962 NA NA 0.16093 0.133151 NA 0.123 NA 8.1766366 842 20 52612549 52612549 C T exonic BCAS1 NA nonsynonymous SNV BCAS1:NM_003657:exon5:c.G764A:p.G255E exonic ENSG00000064787 NA nonsynonymous SNV ENSG00000064787:ENST00000448484:exon2:c.G350A:p.G117E,ENSG00000064787:ENST00000371435:exon5:c.G764A:p.G255E,ENSG00000064787:ENST00000371440:exon5:c.G764A:p.G255E,ENSG00000064787:ENST00000395961:exon5:c.G764A:p.G255E NA NA 20q13.2 NA NA Name=5 NA rs6022903 0.11 0.11 0.127 0.136182 0.0447 0.0188 0.0504 0.3873 0.0726 0.05 0.01 0.04 0.38 0.0711 0.38 1 T 0.002 B 0.002 B 0.618 N 1.000 P -0.69 N 3.31 T -0.929 T 0.000 T 0.027 -2.269 0.004 0.43 0.052 0.695 2.659 -2.268611 NA 0.36 0.04093 0.338402 NA 0.13 NA 8.1766034 842 4 187525020 187525020 A C exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon19:c.T10660G:p.S3554A exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon19:c.T10660G:p.S3554A Score=265;Name=lod=16 NA 4q35.2 NA NA NA NA rs2637777 0.55 0.55 0.555 0.51278 0.3688 0.5774 0.5389 0.7844 0.2086 0.38 0.62 0.53 0.76 0.4276 0.76 0.51 T 0.0 B 0.0 B 0.000 N 1.000 P 0.725 N 1.2 T -1.002 T 0.000 T 0.036 -0.798 0.683 2.19 0.336 0.136 5.734 -0.797573 NA 0.51 0.361723 0.70764 NA 0.601 NA 8.1752104 843 8 11660362 11660362 T C exonic FDFT1 NA synonymous SNV FDFT1:NM_004462:exon1:c.T21C:p.L7L exonic ENSG00000079459 NA synonymous SNV ENSG00000079459:ENST00000220584:exon1:c.T21C:p.L7L,ENSG00000079459:ENST00000443614:exon1:c.T21C:p.L7L,ENSG00000079459:ENST00000525283:exon1:c.T21C:p.L7L,ENSG00000079459:ENST00000525607:exon1:c.T21C:p.L7L,ENSG00000079459:ENST00000525900:exon1:c.T21C:p.L7L,ENSG00000079459:ENST00000529464:exon1:c.T21C:p.L7L,ENSG00000079459:ENST00000530337:exon2:c.T21C:p.L7L Score=460;Name=lod=99 NA 8p23.1 NA Name=AP-2gamma,TBP,AP-2alpha,SRF,Sin3Ak-20,TAF1,ZEB1_(SC-25388),Pol2-4H8,ELF1_(SC-631),HEY1,Pol2(phosphoS2),Pol2,TAF7_(SQ-8) Name=4 NA rs1047643 0.17 0.17 0.173 0.17492 0.1809 0.0079 0.1254 0.3752 0.1053 0.18 0.01 0.12 0.39 0.1582 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.755628 2.755628 0 0.153524 0.330458 NA 0.152 NA 8.1740426 843 1 17313654 17313654 C T exonic ATP13A2 NA synonymous SNV ATP13A2:NM_001141974:exon25:c.G2838A:p.V946V,ATP13A2:NM_001141973:exon26:c.G2955A:p.V985V,ATP13A2:NM_022089:exon26:c.G2970A:p.V990V exonic ENSG00000159363 NA synonymous SNV ENSG00000159363:ENST00000502418:exon5:c.G558A:p.V186V,ENSG00000159363:ENST00000341676:exon25:c.G2838A:p.V946V,ENSG00000159363:ENST00000326735:exon26:c.G2970A:p.V990V,ENSG00000159363:ENST00000452699:exon26:c.G2955A:p.V985V Score=395;Name=lod=54 NA 1p36.13 NA Name=CTCFL_(SC-98982),CTCF_(SC-5916),GABP,NANOG_(SC-33759),CTCF_(C-20),CTCF,Rad21 Name=11 NA rs761421 0.36 0.36 0.358 0.346246 0.508 0.252 0.4582 0.171 0.4346 0.51 0.29 0.44 0.16 0.4639 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.57615 NA NA 0.521982 0.237404 NA 0.377 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116439.1;CLNDSDB=.;CLNDSDBID=. 8.1727846 843 19 58152817 58152817 G C exonic ZNF211 NA synonymous SNV ZNF211:NM_001265600:exon3:c.G780C:p.S260S,ZNF211:NM_198855:exon3:c.G963C:p.S321S,ZNF211:NM_001265598:exon4:c.G1119C:p.S373S,ZNF211:NM_006385:exon4:c.G1002C:p.S334S,ZNF211:NM_001265597:exon5:c.G1158C:p.S386S,ZNF211:NM_001265599:exon5:c.G936C:p.S312S exonic ENSG00000121417 NA synonymous SNV ENSG00000121417:ENST00000347302:exon3:c.G963C:p.S321S,ENSG00000121417:ENST00000391703:exon3:c.G780C:p.S260S,ENSG00000121417:ENST00000420680:exon3:c.G975C:p.S325S,ENSG00000121417:ENST00000240731:exon4:c.G1002C:p.S334S,ENSG00000121417:ENST00000541801:exon4:c.G936C:p.S312S,ENSG00000121417:ENST00000254182:exon5:c.G936C:p.S312S,ENSG00000121417:ENST00000299871:exon5:c.G1158C:p.S386S,ENSG00000121417:ENST00000544273:exon5:c.G999C:p.S333S NA NA 19q13.43 NA NA NA NA rs11880050 0.22 0.22 0.226 0.214058 0.159 0.3214 0.1297 0.2352 0.1912 0.16 0.31 0.14 0.27 0.1793 0.31 . . . . . . . . 0.000 P . . . . -0.952 T 0.000 T . 0.205 5.103 -4.21 -0.850 -4.980 1.381 0.20457 NA NA 0.156279 0.222424 NA 0.196 NA 8.1720876 843 13 111319754 111319754 T C exonic CARS2 NA synonymous SNV CARS2:NM_024537:exon8:c.A852G:p.E284E exonic ENSG00000134905 NA synonymous SNV ENSG00000134905:ENST00000257347:exon8:c.A852G:p.E284E Score=440;Name=lod=82 NA 13q34 Score=826;Name=V$IRF7_01 NA NA NA rs4628819 0.78 0.78 0.776 0.76238 0.8588 0.8333 0.6787 0.6331 0.8241 0.86 0.83 0.69 0.65 0.8022 0.86 . . . . . . . . 0.000 P . . . . -1.061 T 0.000 T . -0.416 2.058 -5.17 -1.105 0.568 13.484 -0.416032 NA NA 0.833837 0.659555 NA 0.79 NA 8.1718296 843 5 80168937 80168937 G A exonic MSH3 NA nonsynonymous SNV MSH3:NM_002439:exon23:c.G3133A:p.A1045T exonic ENSG00000113318 NA nonsynonymous SNV ENSG00000113318:ENST00000265081:exon23:c.G3133A:p.A1045T NA NA 5q14.1 NA NA NA NA rs26279 0.69 0.69 0.693 0.720248 0.7227 0.753 0.6945 0.6551 0.7904 0.72 0.74 0.66 0.61 0.7305 0.74 . . 0.075 B 0.035 B 0.570 N 1.000 P 0.28 N -2.14 D -0.949 T 0.000 T 0.027 1.035 9.229 -2.54 -0.192 1.014 2.363 1.035347 NA 0.58 0.709419 0.66591 NA 0.732 NA 8.1707144 843 8 18656805 18656805 G A exonic PSD3 NA synonymous SNV PSD3:NM_206909:exon5:c.C480T:p.H160H,PSD3:NM_015310:exon8:c.C2082T:p.H694H exonic ENSG00000156011 NA synonymous SNV ENSG00000156011:ENST00000286485:exon5:c.C480T:p.H160H,ENSG00000156011:ENST00000518315:exon5:c.C480T:p.H160H,ENSG00000156011:ENST00000519851:exon5:c.C405T:p.H135H,ENSG00000156011:ENST00000523619:exon7:c.C1887T:p.H629H,ENSG00000156011:ENST00000327040:exon8:c.C2082T:p.H694H,ENSG00000156011:ENST00000440756:exon8:c.C2082T:p.H694H Score=469;Name=lod=107 NA 8p22 Score=826;Name=V$XBP1_01 NA NA NA rs2306825 0.2 0.2 0.236 0.215056 0.163 0.3046 0.1744 0.2413 0.1697 0.15 0.3 0.15 0.21 0.1772 0.3 . . . . . . . . 0.000 P . . . . . . . . . 1.089 9.446 0.35 -0.383 -0.048 10.118 1.089325 NA NA 0.156395 0.20404 NA 0.145 NA 8.1700716 843 7 1976457 1976457 C T exonic MAD1L1 NA nonsynonymous SNV MAD1L1:NM_001013836:exon17:c.G1673A:p.R558H,MAD1L1:NM_001013837:exon17:c.G1673A:p.R558H,MAD1L1:NM_003550:exon17:c.G1673A:p.R558H exonic ENSG00000002822 NA nonsynonymous SNV ENSG00000002822:ENST00000437877:exon2:c.G41A:p.R14H,ENSG00000002822:ENST00000450235:exon4:c.G326A:p.R109H,ENSG00000002822:ENST00000402746:exon15:c.G1397A:p.R466H,ENSG00000002822:ENST00000265854:exon16:c.G1673A:p.R558H,ENSG00000002822:ENST00000399654:exon17:c.G1673A:p.R558H,ENSG00000002822:ENST00000406869:exon17:c.G1673A:p.R558H NA NA 7p22.3 Score=777;Name=V$PAX5_02 Name=ERalpha_a NA NA rs1801368 0.33 0.33 0.245 0.304712 0.3877 0.4454 0.4366 0.0295 0.3528 0.38 0.44 0.43 0.03 0.4088 0.44 0.12 T 0.004 B 0.002 B 0.138 N 1.000 P 0.755 N 2.01 T -0.910 T 0.000 T 0.035 1.323 10.34 -0.002 0.085 -0.301 8.212 1.322527 1.322527 0.15 0.367477 0.092558 NA 0.239 NA 8.1693564 843 11 11913585 11913585 G T exonic USP47 NA nonsynonymous SNV USP47:NM_017944:exon3:c.G224T:p.G75V exonic ENSG00000170242 NA nonsynonymous SNV ENSG00000170242:ENST00000339865:exon3:c.G224T:p.G75V,ENSG00000170242:ENST00000527733:exon4:c.G428T:p.G143V,ENSG00000170242:ENST00000399455:exon5:c.G488T:p.G163V Score=658;Name=lod=629 NA 11p15.3 NA NA NA NA rs11022079 0.8 0.8 0.804 0.823682 0.7018 0.8562 0.7608 0.9637 0.771 0.69 0.87 0.74 0.94 0.7502 0.94 0.51 T 0.0 B 0.0 B 0.001 N 0.000 P -0.895 N 3.7 T -1.014 T 0.000 T 0.194 0.776 8.1 5.08 0.867 2.365 12.156 0.776358 NA 1 0.712521 0.924 NA 0.783 NA 8.1688124 843 18 19154143 19154143 G A exonic ESCO1 NA nonsynonymous SNV ESCO1:NM_052911:exon4:c.C662T:p.T221M exonic ENSG00000141446 NA nonsynonymous SNV ENSG00000141446:ENST00000269214:exon4:c.C662T:p.T221M,ENSG00000141446:ENST00000383276:exon4:c.C662T:p.T221M NA NA 18q11.2 Score=813;Name=V$COMP1_01 NA NA NA rs13381941 0.52 0.52 0.497 0.558906 0.3668 0.4921 0.5058 0.8064 0.5286 0.37 0.44 0.52 0.82 0.4461 0.82 0.11 T 0.244 B 0.021 B 0.772 N 1.000 P 0 N 1.87 T -0.974 T 0.000 T 0.044 -0.488 1.758 -4.85 -0.900 -0.036 0.664 -0.487589 NA NA 0.351744 0.733772 NA 0.536 NA 8.1686894 843 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 843 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 843 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 843 6 33053577 33053577 G A exonic HLA-DPB1 NA nonsynonymous SNV HLA-DPB1:NM_002121:exon4:c.G668A:p.R223Q exonic ENSG00000223865 NA nonsynonymous SNV ENSG00000223865:ENST00000418931:exon4:c.G668A:p.R223Q,ENSG00000223865:ENST00000428835:exon4:c.G599A:p.R200Q Score=321;Name=lod=27 NA 6p21.32 NA NA NA NA rs9276 0.11 0.11 0.122 0.13738 0.0437 0.006 0.0432 0.4062 0.0726 0.04 NA 0.04 0.41 0.0708 0.41 1 T 0.072 B 0.019 B 0.992 N 0.611 P 0.93 L 6.11 T -0.987 T 0.001 T 0.311 -0.4 2.126 1.79 0.298 -0.160 4.683 -0.400228 NA 1 0.052209 0.310713 NA 0.159 NA 8.1666244 844 18 61471523 61471523 G A exonic SERPINB7 NA nonsynonymous SNV SERPINB7:NM_001261831:exon7:c.G746A:p.R249Q,SERPINB7:NM_001040147:exon8:c.G797A:p.R266Q,SERPINB7:NM_001261830:exon8:c.G797A:p.R266Q,SERPINB7:NM_003784:exon8:c.G797A:p.R266Q exonic ENSG00000166396 NA nonsynonymous SNV ENSG00000166396:ENST00000540675:exon7:c.G746A:p.R249Q,ENSG00000166396:ENST00000336429:exon8:c.G797A:p.R266Q,ENSG00000166396:ENST00000398019:exon8:c.G797A:p.R266Q,ENSG00000166396:ENST00000546027:exon8:c.G797A:p.R266Q NA NA 18q21.33 NA NA NA NA rs17782413 0.16 0.16 0.139 0.157947 0.2247 0.1071 0.2277 0.0787 0.1994 0.22 0.1 0.22 0.1 0.2127 0.23 0.18 T 0.753 P 0.147 B 0.053 N 1.000 P 0.945 L -1.84 D -1.105 T 0.000 T 0.049 2.344 13.79 1.9 0.495 -0.195 4.641 2.343575 2.343575 0.28 0.231628 0.117794 NA 0.072 NA 8.1643054 844 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 844 8 71039118 71039118 C G exonic NCOA2 NA nonsynonymous SNV NCOA2:NM_006540:exon19:c.G3846C:p.M1282I exonic ENSG00000140396 NA nonsynonymous SNV ENSG00000140396:ENST00000267974:exon7:c.G1110C:p.M370I,ENSG00000140396:ENST00000452400:exon19:c.G3846C:p.M1282I NA NA 8q13.3 NA NA NA NA rs2228591 0.06 0.06 0.059 0.0732827 0.0557 0.1696 0.0634 0.0106 0.0838 0.05 0.12 0.04 0.01 0.0605 0.12 0.34 T 0.0 B 0.0 B 0.489 N 1.000 P 0.65 N 1.87 T -0.997 T 0.001 T 0.181 0.64 7.435 -2.59 -0.317 -0.581 7.492 0.639508 NA 0.36 0.055101 0.024987 NA 0.051 NA 8.1620324 844 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 844 11 56184888 56184888 G A exonic OR5R1 NA nonsynonymous SNV OR5R1:NM_001004744:exon1:c.C821T:p.A274V exonic ENSG00000174942 NA nonsynonymous SNV ENSG00000174942:ENST00000312253:exon1:c.C821T:p.A274V NA NA 11q12.1 NA NA NA NA rs998544 0.43 0.43 0.371 0.446885 0.3708 0.6429 0.5922 0.1838 0.5757 0.35 0.64 0.58 0.17 0.4326 0.64 0.33 T 0.999 D 0.986 D 0.006 U 1.000 P 1.02 L 1.37 T -0.958 T 0.000 T 0.097 1.301 10.26 1.53 0.691 0.518 4.936 1.300901 1.300901 0.15 0.371159 0.215811 NA 0.333 NA 8.1587744 844 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 844 X 1428421 1428421 G T exonic CSF2RA NA nonsynonymous SNV CSF2RA:NM_172246:exon11:c.G1073T:p.R358L exonic ENSG00000198223 NA nonsynonymous SNV ENSG00000198223:ENST00000355432:exon11:c.G1073T:p.R358L NA NA Xp22.33 NA NA NA NA rs28722602 0.16 0.16 0.1717 NA NA NA NA NA NA 0.08 0.14 0.1 0.33 0.1198 0.33 0 D 0.0 B 0.0 B . . 1.000 N . . 0.9 T -0.974 T 0.000 T 0.016 -2.587 0 -0.685 -1.076 -0.367 . -2.586937 NA 0 0.055633 0.300499 NA 0.152 NA 8.1579004 844 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 844 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 844 11 92895920 92895920 T C exonic SLC36A4 NA nonsynonymous SNV SLC36A4:NM_152313:exon9:c.A989G:p.H330R exonic ENSG00000180773 NA nonsynonymous SNV ENSG00000180773:ENST00000534116:exon6:c.A671G:p.H224R,ENSG00000180773:ENST00000326402:exon9:c.A989G:p.H330R,ENSG00000180773:ENST00000529184:exon9:c.A584G:p.H195R NA NA 11q21 NA NA NA NA rs78676517 0.03 0.03 0.024 0.0439297 0.0567 0.001 0.036 0.0212 0.1115 0.06 0.0017 0.05 0.01 0.0551 0.065 0.13 T 0.0 B 0.002 B 0.771 N 1.000 N 0 N 4.41 T -0.933 T 0.001 T 0.098 1.576 11.22 -3.26 -0.741 0.122 14.350 1.575544 1.575544 0.17 0.064681 0.035211 NA 0.029 NA 8.1568524 844 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 844 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 845 12 121432117 121432117 G C exonic HNF1A NA synonymous SNV HNF1A:NM_000545:exon4:c.G864C:p.G288G exonic ENSG00000135100 NA nonsynonymous SNV ENSG00000135100:ENST00000538646:exon3:c.G677C:p.G226A Score=313;Name=lod=25 NA 12q24.31 Score=707;Name=V$NRSF_01 NA NA NA rs56348580 0.21 0.21 0.152 0.18111 0.3032 0.005 0.415 0.1778 0.0757 0.3 NA 0.38 0.21 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 0.323405 NA NA 0.263317 0.182025 NA 0.275 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117234.1|RCV000125372.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.154683 845 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 845 11 56113575 56113575 A G exonic OR8K1 NA nonsynonymous SNV OR8K1:NM_001002907:exon1:c.A61G:p.M21V exonic ENSG00000150261 NA nonsynonymous SNV ENSG00000150261:ENST00000279783:exon1:c.A61G:p.M21V NA NA 11q12.1 NA NA NA NA rs10896271 0.44 0.44 0.387 0.460863 0.3708 0.6438 0.6052 0.2292 0.5757 0.35 0.64 0.6 0.22 0.4371 0.64 0.64 T 0.006 B 0.006 B 0.554 N 1.000 P 0.33 N 7.47 T -1.088 T 0.000 T 0.018 0.762 8.032 -4.56 -0.806 -3.088 7.837 0.761871 NA 0.38 0.371625 0.252385 NA 0.348 NA 8.1538084 845 22 50660137 50660137 G A exonic TUBGCP6 NA nonsynonymous SNV TUBGCP6:NM_020461:exon16:c.C2651T:p.A884V exonic ENSG00000128159 NA nonsynonymous SNV ENSG00000128159:ENST00000248846:exon16:c.C2651T:p.A884V,ENSG00000128159:ENST00000439308:exon16:c.C2651T:p.A884V NA NA 22q13.33 NA Name=Rad21,CTCF,CTCF_(C-20),CTCF_(SC-5916) NA NA rs34455105 0.03 0.03 0.043 0.0263578 0.0696 NA 0.0432 0.0053 0.0256 0.07 0.0017 0.05 0.01 0.045 0.07 0.24 T 0.054 B 0.035 B 0.003 N 1.000 N -0.145 N 3.08 T -1.002 T 0.002 T 0.085 0.627 7.374 -1.64 -0.160 -0.232 3.847 0.627376 NA 0.32 0.065131 0.012716 NA 0.022 NA 8.1536024 845 1 12785494 12785494 G T exonic AADACL3 NA nonsynonymous SNV AADACL3:NM_001103169:exon3:c.G374T:p.C125F,AADACL3:NM_001103170:exon4:c.G584T:p.C195F exonic ENSG00000188984 NA nonsynonymous SNV ENSG00000188984:ENST00000332530:exon3:c.G374T:p.C125F,ENSG00000188984:ENST00000359318:exon4:c.G584T:p.C195F NA NA 1p36.21 NA NA NA NA rs7513079 0.7 0.7 0.665 0.682308 0.7296 0.7798 0.7752 0.4849 0.7342 0.74 0.8 0.75 0.48 0.7182 0.8 1 T 0.132 B 0.22 B 0.000 N 1.000 P -0.24 N 3.52 T -0.963 T 0.000 T 0.11 0.016 4.099 5.35 2.504 1.327 5.359 0.016412 NA 0.6 0.732047 0.523732 NA 0.58 NA 8.1534864 845 9 109691676 109691676 A G exonic ZNF462 NA nonsynonymous SNV ZNF462:NM_021224:exon3:c.A5483G:p.N1828S exonic ENSG00000148143 NA nonsynonymous SNV ENSG00000148143:ENST00000374686:exon1:c.A2132G:p.N711S,ENSG00000148143:ENST00000441147:exon1:c.A2018G:p.N673S,ENSG00000148143:ENST00000277225:exon3:c.A5483G:p.N1828S,ENSG00000148143:ENST00000457913:exon3:c.A5483G:p.N1828S NA NA 9q31.2 NA NA NA NA rs3814538 0.52 0.52 0.519 0.559505 0.3917 0.4782 0.4625 0.8623 0.4755 0.39 0.45 0.47 0.84 0.4256 0.84 0.85 T 0.0 B 0.0 B 0.181 N 1.000 P 0 N 4.16 T -1.031 T 0.000 T 0.01 -2.046 0.006 3.86 0.858 1.305 5.099 -2.046486 NA 0.92 0.363488 0.772129 NA 0.565 NA 8.1525454 845 11 28110151 28110151 T C exonic KIF18A NA nonsynonymous SNV KIF18A:NM_031217:exon6:c.A817G:p.T273A exonic ENSG00000121621 NA nonsynonymous SNV ENSG00000121621:ENST00000263181:exon6:c.A817G:p.T273A NA NA 11p14.1 NA NA NA NA rs12272419 0.16 0.16 0.158 0.163139 0.0487 0.3988 0.036 0.1634 0.1278 0.05 0.37 0.03 0.19 0.0898 0.37 0.47 T 0.0 B 0.002 B 0.038 N 1.000 P -1.39 N -0.85 T -0.971 T 0.000 T 0.003 -0.019 3.916 -2.37 -0.427 0.934 7.950 -0.019155 NA 1 0.042568 0.150318 NA 0.138 NA 8.1522654 845 4 123838758 123838758 A G exonic NUDT6 NA nonsynonymous SNV NUDT6:NM_007083:exon2:c.T340C:p.C114R exonic ENSG00000170917 NA nonsynonymous SNV ENSG00000170917:ENST00000304430:exon2:c.T340C:p.C114R NA NA 4q28.1 NA NA Name=5 NA rs12648093 0.65 0.65 0.609 0.605631 0.7386 0.9415 0.6412 0.1959 0.6513 0.73 0.94 0.67 0.18 0.6978 0.94 0.46 T 0.0 B 0.001 B 0.336 N 0.590 P 0.66 N 1.44 T -1.023 T 0.000 T 0.06 -1.346 0.029 -7.93 -1.553 -0.941 2.820 -1.345983 NA 0.59 0.744808 0.324963 ID=COSM1131278;OCCURENCE=1(prostate) 0.486 NA 8.1521254 845 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 845 19 22156992 22156992 C T exonic ZNF208 NA nonsynonymous SNV ZNF208:NM_007153:exon4:c.G844A:p.E282K exonic ENSG00000160321 NA nonsynonymous SNV ENSG00000160321:ENST00000397126:exon4:c.G844A:p.E282K Score=265;Name=lod=16 NA 19p12 NA NA NA NA rs2007506 0.64 0.64 0.612 0.570887 0.5686 0.6925 0.6311 0.6233 0.3344 0.58 0.71 0.58 0.67 0.5538 0.71 0.08 T 0.998 D 0.863 P . . 0.964 P . . 1.86 T -0.983 T 0.000 T 0.076 0.723 7.849 1.8 0.193 0.011 6.772 0.723473 NA 0.04 0.559328 0.63511 NA 0.652 NA 8.1516054 845 19 9075346 9075346 T A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A12100T:p.I4034F exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A12100T:p.I4034F NA NA 19p13.2 NA NA NA NA rs2591592 0.43 0.43 0.418 0.438299 0.5755 0.2579 0.4683 0.4115 0.498 0.57 0.22 0.5 0.39 0.5152 0.59 0 D 0.986 D 0.737 P . . . . 1.1 L 4.19 T -0.938 T 0.000 T 0.076 0.265 5.432 -1.05 -0.363 -0.602 2.072 0.264864 NA 0.33 0.591554 0.448387 NA 0.399 NA 8.1510794 845 15 99672722 99672722 A G exonic SYNM NA unknown UNKNOWN exonic ENSG00000182253 NA nonsynonymous SNV ENSG00000182253:ENST00000336292:exon5:c.A4154G:p.E1385G NA NA 15q26.3 NA NA NA NA rs2292288 0.5 0.5 0.455 0.483626 0.5328 0.628 0.4755 0.3033 0.5337 0.52 0.64 0.5 0.29 0.4947 0.64 1 T . . . . . . 1.000 P . . -1.5 D -0.964 T 0.000 T 0.147 -0.386 2.187 4.51 0.669 1.488 9.774 -0.386304 NA 1 0.488595 0.31329 NA 0.42 NA 8.1505717 845 9 99250463 99250463 C T exonic HABP4 NA synonymous SNV HABP4:NM_014282:exon7:c.C1092T:p.L364L exonic ENSG00000130956 NA synonymous SNV ENSG00000130956:ENST00000375251:exon4:c.C777T:p.L259L,ENSG00000130956:ENST00000375249:exon7:c.C1092T:p.L364L Score=405;Name=lod=59 NA 9q22.32 Score=787;Name=V$PAX2_01 NA Name=54 NA rs7030316 0.19 0.19 0.209 0.1877 0.165 0.0248 0.1066 0.444 0.09 0.16 0.03 0.12 0.47 0.1713 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019107 NA NA 0.180465 0.413073 NA 0.159 NA 8.1499016 845 19 47856336 47856336 C T exonic DHX34 NA nonsynonymous SNV DHX34:NM_014681:exon2:c.C49T:p.R17W exonic ENSG00000134815 NA nonsynonymous SNV ENSG00000134815:ENST00000328771:exon2:c.C49T:p.R17W NA NA 19q13.32 NA NA NA NA rs12984558 0.03 0.03 0.023 0.0209665 0.0686 NA 0.0375 0.0038 0.0051 0.06 NA 0.05 0.0041 0.0481 0.067 0.19 T 0.001 B 0.0 B 0.389 N 1.000 N 0.345 N 4.09 T -0.913 T 0.001 T 0.086 0.263 5.424 -0.368 -0.110 -1.470 6.453 0.263452 NA 0.06 0.067209 0.012937 NA 0.065 NA 8.1494244 845 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 845 19 53209553 53209553 G A exonic ZNF611 NA nonsynonymous SNV ZNF611:NM_001161500:exon5:c.C755T:p.P252L,ZNF611:NM_001161501:exon5:c.C548T:p.P183L,ZNF611:NM_001161499:exon6:c.C755T:p.P252L,ZNF611:NM_030972:exon7:c.C755T:p.P252L exonic ENSG00000213020 NA nonsynonymous SNV ENSG00000213020:ENST00000602162:exon2:c.C548T:p.P183L,ENSG00000213020:ENST00000595798:exon4:c.C548T:p.P183L,ENSG00000213020:ENST00000453741:exon5:c.C548T:p.P183L,ENSG00000213020:ENST00000540744:exon5:c.C755T:p.P252L,ENSG00000213020:ENST00000543227:exon6:c.C755T:p.P252L,ENSG00000213020:ENST00000319783:exon7:c.C755T:p.P252L NA NA 19q13.41 NA NA NA NA rs4085566 0.43 0.43 0.37 0.438698 0.4105 0.3681 0.3285 0.7012 0.2638 0.37 0.38 0.35 0.65 0.4038 0.65 0.04 D 0.0 B 0.002 B . . 1.000 P -0.75 N 2.57 T -1.014 T 0.000 T 0.046 0.195 5.048 1.2 -0.303 -1.050 2.378 0.194555 NA 0.02 0.371655 0.649115 ID=COSM148721;OCCURENCE=1(stomach) NA NA 8.1473784 845 7 64438667 64438667 G A exonic ZNF117 NA stopgain ZNF117:NM_015852:exon4:c.C1282T:p.R428X exonic ENSG00000152926 NA stopgain ENSG00000152926:ENST00000282869:exon4:c.C1282T:p.R428X NA NA 7q11.21 NA Name=ZNF274 NA NA rs1404453 0.89 0.89 0.875 0.881789 0.9652 0.873 0.9395 0.7284 0.9714 0.96 0.88 0.94 0.73 0.9321 0.96 0.7 T . . . . . . 0.000 P . . . . . . . . . 10.183 43 -2.21 -0.301 -12.792 3.110 10.182913 10.182913 0.64 0.955401 0.783436 NA 0.891 NA 8.147299 845 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 845 8 10468172 10468172 G A exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.C3436T:p.R1146W exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.C3436T:p.R1146W NA NA 8p23.1 NA NA NA NA rs4840502 0.68 0.68 0.666 0.708067 0.7346 0.5962 0.755 0.6528 0.8374 0.74 0.6 0.73 0.63 0.7309 0.74 0.16 T 1.0 D 0.952 D 0.664 N 1.000 P 0.895 L 3.33 T -0.959 T 0.000 T 0.102 2.372 13.89 -0.17 0.100 1.424 8.762 2.371741 2.371741 0.1 0.721627 0.67716 ID=COSM1453857;OCCURENCE=1(large_intestine) 0.761 NA 8.1462064 845 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 845 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 845 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 846 10 103900729 103900729 G A exonic PPRC1 NA nonsynonymous SNV PPRC1:NM_015062:exon5:c.G2464A:p.V822I exonic ENSG00000148840 NA nonsynonymous SNV ENSG00000148840:ENST00000278070:exon5:c.G2464A:p.V822I,ENSG00000148840:ENST00000413464:exon5:c.G2464A:p.V822I NA NA 10q24.32 NA NA NA NA rs61731871 0.08 0.08 0.086 0.0770767 0.0656 NA 0.062 0.1989 0.0143 0.08 NA 0.08 0.18 0.0626 0.18 0.14 T 0.082 B 0.052 B 0.000 N 1.000 P 0.895 L 1.83 T -1.026 T 0.000 T 0.026 0.326 5.765 -5.61 -0.651 -0.864 1.940 0.325524 NA 0.1 0.060233 0.167499 ID=COSM426967;OCCURENCE=1(breast) 0.109 NA 8.1449004 846 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 846 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 846 10 61965625 61965625 A G exonic ANK3 NA synonymous SNV ANK3:NM_001204404:exon11:c.T1167C:p.I389I,ANK3:NM_020987:exon11:c.T1218C:p.I406I,ANK3:NM_001204403:exon12:c.T1200C:p.I400I exonic ENSG00000151150 NA synonymous SNV ENSG00000151150:ENST00000280772:exon11:c.T1218C:p.I406I,ENSG00000151150:ENST00000503366:exon11:c.T1167C:p.I389I,ENSG00000151150:ENST00000373827:exon12:c.T1200C:p.I400I Score=598;Name=lod=359 NA 10q21.2 NA Name=FOXA1_(C-20) NA NA rs2297979 0.15 0.15 0.162 0.151558 0.1879 0.0655 0.1398 0.1785 0.1748 0.19 0.06 0.11 0.2 0.1596 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.528139 1.528139 NA 0.17593 0.193146 ID=COSM146942;OCCURENCE=1(stomach) 0.138 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116326.2;CLNDSDB=.;CLNDSDBID=. 8.1432366 846 11 2190951 2190951 C T exonic TH NA nonsynonymous SNV TH:NM_000360:exon2:c.G241A:p.V81M,TH:NM_199292:exon3:c.G334A:p.V112M,TH:NM_199293:exon3:c.G322A:p.V108M exonic ENSG00000180176 NA nonsynonymous SNV ENSG00000180176:ENST00000333684:exon2:c.G253A:p.V85M,ENSG00000180176:ENST00000352909:exon2:c.G241A:p.V81M,ENSG00000180176:ENST00000381175:exon3:c.G322A:p.V108M,ENSG00000180176:ENST00000381178:exon3:c.G334A:p.V112M NA NA 11p15.5 NA NA NA NA rs6356 0.42 0.42 0.403 0.430511 0.4026 0.7877 0.3919 0.1014 0.5634 0.38 0.77 0.35 0.11 0.4249 0.77 0.24 T 0.106 B 0.033 B 0.170 N 1.000 P 0.95 L -4.92 D -0.950 T 0.000 T 0.018 2.311 13.68 -1.8 -0.189 -0.327 4.729 2.310931 2.310931 0.21 0.362991 0.141527 NA 0.435 CLINSIG=non-pathogenic;CLNDBN=Segawa_syndrome\x2c_autosomal_recessive;CLNREVSTAT=single;CLNACC=RCV000021078.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1437:C1854299:605407:ORPHA101150 8.1428424 846 17 6919093 6919093 T C exonic C17orf49 NA synonymous SNV C17orf49:NM_001142798:exon3:c.T117C:p.G39G,C17orf49:NM_174893:exon3:c.T117C:p.G39G exonic ENSG00000161939,ENSG00000258315 NA synonymous SNV ENSG00000258315:ENST00000552775:exon2:c.T39C:p.G13G,ENSG00000258315:ENST00000439424:exon3:c.T117C:p.G39G,ENSG00000258315:ENST00000546495:exon3:c.T117C:p.G39G,ENSG00000258315:ENST00000546760:exon3:c.T117C:p.G39G,ENSG00000161939:ENST00000607129:exon3:c.T117C:p.G39G Score=672;Name=lod=719 NA 17p13.1 NA NA Name=8 NA rs14309 0.75 0.75 0.753 0.757388 0.8569 0.877 0.5908 0.5628 0.9131 0.85 0.84 0.63 0.59 0.8132 0.85 . . . . . . . . 0.711 P . . . . -1.043 T 0.000 T . 3.023 16.08 3.62 0.790 1.113 5.279 3.022526 3.022526 NA 0.85407 0.612574 NA 0.768 NA 8.1424966 846 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 846 21 41137507 41137507 G C exonic IGSF5 NA nonsynonymous SNV IGSF5:NM_001080444:exon3:c.G146C:p.R49T exonic ENSG00000183067 NA nonsynonymous SNV ENSG00000183067:ENST00000380588:exon3:c.G146C:p.R49T NA NA 21q22.2 NA NA NA NA rs2205204 0.67 0.67 0.639 0.659545 0.7396 0.7292 0.7507 0.4274 0.7546 0.74 0.76 0.74 0.41 0.7144 0.76 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.255 N -0.16 T -0.928 T 0.000 T 0.083 -2.009 0.007 4.05 1.026 2.825 12.911 -2.00937 NA NA 0.738953 0.461643 NA 0.565 NA 8.1403804 846 5 73207372 73207372 T A exonic ARHGEF28 NA nonsynonymous SNV ARHGEF28:NM_001244364:exon27:c.T3981A:p.H1327Q,ARHGEF28:NM_001080479:exon35:c.T4920A:p.H1640Q,ARHGEF28:NM_001177693:exon35:c.T4920A:p.H1640Q exonic ENSG00000214944 NA nonsynonymous SNV ENSG00000214944:ENST00000512883:exon10:c.T1680A:p.H560Q,ENSG00000214944:ENST00000296799:exon27:c.T3981A:p.H1327Q,ENSG00000214944:ENST00000287898:exon34:c.T4788A:p.H1596Q,ENSG00000214944:ENST00000426542:exon34:c.T4920A:p.H1640Q,ENSG00000214944:ENST00000437974:exon34:c.T4920A:p.H1640Q,ENSG00000214944:ENST00000296794:exon35:c.T4920A:p.H1640Q,ENSG00000214944:ENST00000513042:exon35:c.T4920A:p.H1640Q,ENSG00000214944:ENST00000545377:exon35:c.T4920A:p.H1640Q NA NA 5q13.2 NA Name=ZNF263 NA NA rs1478453 0.32 0.32 0.325 0.302316 0.4165 0.2242 0.2205 0.3775 0.2219 0.41 0.21 0.26 0.34 0.3809 0.41 0.76 T 0.005 B 0.003 B 0.826 N 1.000 P 0.205 N 3.29 T -0.932 T 0.000 T 0.041 -0.959 0.326 -1.84 -1.238 -0.559 0.851 -0.959181 NA 0.48 0.397509 0.359209 NA 0.355 NA 8.1384244 846 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 846 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 846 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$YY1_02 NA NA NA rs6652 0.11 0.11 0.145 0.0924521 0.1978 0.0288 0.0749 0.0893 0.0665 0.19 0.03 0.09 0.08 0.1373 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.049328 NA NA 0.195162 0.112903 NA 0.181 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079889.2;CLNDSDB=.;CLNDSDBID=. 8.1364046 846 12 120189888 120189888 T C exonic CIT NA synonymous SNV CIT:NM_007174:exon22:c.A2745G:p.T915T,CIT:NM_001206999:exon23:c.A2871G:p.T957T exonic ENSG00000122966 NA synonymous SNV ENSG00000122966:ENST00000261833:exon22:c.A2745G:p.T915T,ENSG00000122966:ENST00000392521:exon23:c.A2871G:p.T957T NA NA 12q24.23 NA NA Name=4 NA rs904654 0.52 0.52 0.463 0.538538 0.499 0.5665 0.634 0.4682 0.5777 0.5 0.53 0.64 0.44 0.531 0.64 . . . . . . . . 0.000 P . . . . -0.971 T 0.000 T . 1.014 9.141 -10.8 -2.162 -5.023 2.090 1.013878 NA NA 0.501047 0.46187 NA 0.594 NA 8.1356196 846 20 25038484 25038484 G T exonic ACSS1 NA synonymous SNV ACSS1:NM_001252675:exon1:c.C255A:p.T85T,ACSS1:NM_001252677:exon1:c.C255A:p.T85T,ACSS1:NM_032501:exon1:c.C255A:p.T85T exonic ENSG00000154930 NA synonymous SNV ENSG00000154930:ENST00000323482:exon1:c.C255A:p.T85T,ENSG00000154930:ENST00000376726:exon1:c.C255A:p.T85T,ENSG00000154930:ENST00000432802:exon1:c.C255A:p.T85T Score=435;Name=lod=78 NA 20p11.21 Score=843;Name=V$NFKB_C Name=Pol2,TAF1 NA NA rs66817095 0.23 0.23 0.144 0.191494 0.1829 0.4812 0.2032 0.0098 0.1391 0.17 0.51 0.22 0.02 0.1802 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.09431 NA NA 0.168256 0.03586 NA 0.043 NA 8.1353106 847 20 62373707 62373707 G T exonic SLC2A4RG NA nonsynonymous SNV SLC2A4RG:NM_020062:exon6:c.G699T:p.E233D exonic ENSG00000125520 NA nonsynonymous SNV ENSG00000125520:ENST00000266077:exon6:c.G699T:p.E233D Score=381;Name=lod=47 NA 20q13.33 NA NA NA NA rs8957 0.7 0.7 0.727 0.71905 0.7475 0.371 0.7089 0.9614 0.728 0.74 0.37 0.77 0.95 0.7208 0.95 1 T 0.02 B 0.008 B 0.036 U 0.998 P 0.36 N -2.17 D -0.910 T 0.000 T 0.031 -0.127 3.376 1.27 1.496 0.036 2.532 -0.127362 NA 1 0.7311 0.91337 ID=COSM444237;OCCURENCE=1(breast) 0.71 NA 8.1339334 847 7 4901385 4901385 A C exonic PAPOLB NA nonsynonymous SNV PAPOLB:NM_020144:exon1:c.T57G:p.N19K exonic ENSG00000218823 NA nonsynonymous SNV ENSG00000218823:ENST00000404991:exon1:c.T54G:p.N18K Score=259;Name=lod=15 NA 7p22.1 NA NA NA NA rs3750009 0.43 0.43 0.475 0.495008 0.341 0.4117 0.3689 0.708 0.5409 0.34 0.36 0.35 0.72 0.4737 0.72 1 T 0.0 B 0.0 B . . 0.000 P -2.685 N . . -0.948 T 0.000 T 0.025 -2.186 0.005 3.25 0.718 0.699 3.843 -2.186441 NA 1 0.385642 0.634209 NA 0.435 NA 8.1329914 847 10 135053773 135053773 G A exonic VENTX NA nonsynonymous SNV VENTX:NM_014468:exon3:c.G740A:p.G247D exonic ENSG00000151650 NA nonsynonymous SNV ENSG00000151650:ENST00000325980:exon3:c.G740A:p.G247D NA NA 10q26.3 NA NA NA NA rs9418953 0.09 0.09 0.065 0.102636 0.0586 0.0833 0.134 0.1172 0.1258 0.05 0.08 0.13 0.13 0.0846 0.13 0.52 T 0.195 B 0.063 B 0.618 U 1.000 P 0.205 N -2.72 D -0.954 T 0.008 T 0.034 0.464 6.517 1.35 0.508 -0.781 4.240 0.463521 NA 0 0.057269 0.09917 NA 0.022 NA 8.1328644 847 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 847 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=Pol2,ZNF263 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 847 2 152346979 152346979 T C exonic NEB NA nonsynonymous SNV NEB:NM_004543:exon147:c.A19600G:p.I6534V,NEB:NM_001164507:exon180:c.A25204G:p.I8402V,NEB:NM_001164508:exon180:c.A25204G:p.I8402V,NEB:NM_001271208:exon181:c.A25309G:p.I8437V exonic ENSG00000183091 NA nonsynonymous SNV ENSG00000183091:ENST00000509223:exon11:c.A943G:p.I315V,ENSG00000183091:ENST00000397336:exon13:c.A1129G:p.I377V,ENSG00000183091:ENST00000413693:exon72:c.A8650G:p.I2884V,ENSG00000183091:ENST00000172853:exon147:c.A19636G:p.I6546V,ENSG00000183091:ENST00000409198:exon148:c.A19636G:p.I6546V,ENSG00000183091:ENST00000603639:exon178:c.A25204G:p.I8402V,ENSG00000183091:ENST00000604864:exon178:c.A25204G:p.I8402V,ENSG00000183091:ENST00000397345:exon180:c.A25204G:p.I8402V,ENSG00000183091:ENST00000427231:exon180:c.A25204G:p.I8402V Score=429;Name=lod=74 NA 2q23.3 NA NA NA NA rs1061305 0.37 0.37 0.341 0.334265 0.3738 0.254 0.3458 0.4599 0.1984 0.37 0.28 0.33 0.5 0.4136 0.5 0.58 T 0.015 B 0.043 B 0.009 N 0.000 P 0.69 N 4.27 T -0.957 T 0.000 T 0.168 1.658 11.5 0.397 0.051 -0.696 5.483 1.658056 1.658056 0 0.414985 0.426614 NA 0.384 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081132.3;CLNDSDB=.;CLNDSDBID=. 8.1309484 847 6 6222382 6222382 T G exonic F13A1 NA synonymous SNV F13A1:NM_000129:exon8:c.A996C:p.P332P exonic ENSG00000124491 NA synonymous SNV ENSG00000124491:ENST00000264870:exon8:c.A996C:p.P332P Score=493;Name=lod=135 NA 6p25.1 NA Name=CTCF NA NA rs5981 0.1 0.1 0.084 0.0934505 0.1839 0.006 0.121 0.0522 0.1268 0.2 0.01 0.13 0.05 0.1539 0.2 . . . . . . . . 0.000 P . . . . -1.018 T 0.033 T . 1.47 10.86 -1.18 0.100 -0.022 4.801 1.470107 1.470107 NA 0.19814 0.07921 NA 0.152 NA 8.1307266 847 4 23814707 23814707 G A exonic PPARGC1A NA nonsynonymous SNV PPARGC1A:NM_013261:exon9:c.C1835T:p.T612M exonic ENSG00000109819 NA nonsynonymous SNV ENSG00000109819:ENST00000264867:exon9:c.C1835T:p.T612M NA NA 4p15.2 NA NA NA NA rs3736265 0.11 0.11 0.095 0.109425 0.0666 0.1726 0.1095 0.0628 0.1513 0.07 0.19 0.12 0.07 0.0828 0.19 0.06 T 0.0 B 0.0 B 0.045 N 1.000 P 1.04 L 0.96 T -1.076 T 0.000 T 0.035 1.168 9.752 1.74 0.341 1.453 5.315 1.167861 NA 0.01 0.054535 0.061961 NA 0.065 NA 8.1293984 847 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=c-Myc,HA-E2F1 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 847 15 90764219 90764219 G A exonic SEMA4B NA nonsynonymous SNV SEMA4B:NM_198925:exon5:c.G489A:p.M163I,SEMA4B:NM_020210:exon6:c.G489A:p.M163I exonic ENSG00000185033 NA stopgain ENSG00000185033:ENST00000561085:exon5:c.G257A:p.W86X NA NA 15q26.1 NA NA NA NA rs4932305 0.25 0.25 0.242 0.276957 0.1491 0.6081 0.2291 0.0613 0.3926 0.15 0.61 0.15 0.06 0.2503 0.61 0.47 T 0.0 B 0.001 B 0.849 N 1.000 P -0.76 N 2.98 T -0.985 T 0.000 T 0.034 3.192 16.69 2.5 0.809 0.077 3.628 3.192268 3.192268 0.59 0.139449 0.085271 NA 0.109 NA 8.1278177 847 16 89627460 89627460 T G exonic RPL13 NA synonymous SNV RPL13:NM_033251:exon1:c.T93G:p.R31R,RPL13:NM_000977:exon2:c.T93G:p.R31R,RPL13:NM_001243130:exon2:c.T93G:p.R31R,RPL13:NM_001243131:exon2:c.T93G:p.R31R exonic ENSG00000167526 NA synonymous SNV ENSG00000167526:ENST00000393099:exon1:c.T93G:p.R31R,ENSG00000167526:ENST00000311528:exon2:c.T93G:p.R31R,ENSG00000167526:ENST00000452368:exon2:c.T93G:p.R31R,ENSG00000167526:ENST00000467736:exon2:c.T93G:p.R31R,ENSG00000167526:ENST00000562879:exon2:c.T93G:p.R31R,ENSG00000167526:ENST00000567815:exon2:c.T93G:p.R31R Score=553;Name=lod=236 NA 16q24.3 NA Name=YY1,SP1,c-Myc,CTCF_(SC-5916),USF-1,Pol2,CTCF Name=19 NA rs4874 0.19 0.19 0.178 0.190895 0.17 0.1458 0.1282 0.2988 0.1575 0.17 0.15 0.14 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 2.037929 2.037929 NA 0.178716 0.256489 ID=COSM1380535;OCCURENCE=1(large_intestine) 0.159 NA 8.1275506 847 11 64081445 64081445 G A exonic ESRRA NA synonymous SNV ESRRA:NM_004451:exon3:c.G348A:p.P116P exonic ENSG00000173153 NA synonymous SNV ENSG00000173153:ENST00000000442:exon3:c.G348A:p.P116P,ENSG00000173153:ENST00000405666:exon3:c.G348A:p.P116P,ENSG00000173153:ENST00000406310:exon3:c.G348A:p.P116P Score=695;Name=lod=894 NA 11q13.1 Score=882;Name=V$E47_02 NA Name=33 NA rs2276014 0.11 0.11 0.112 0.0892572 0.161 0.1052 0.1254 0.0242 0.0613 0.16 0.1 0.13 0.02 0.2257 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.295267 1.295267 NA 0.15259 0.046458 NA 0.058 NA 8.1273766 847 5 180218668 180218668 A G exonic MGAT1 NA nonsynonymous SNV MGAT1:NM_001114619:exon2:c.T1304C:p.L435P,MGAT1:NM_001114620:exon2:c.T1304C:p.L435P,MGAT1:NM_002406:exon2:c.T1304C:p.L435P,MGAT1:NM_001114617:exon3:c.T1304C:p.L435P,MGAT1:NM_001114618:exon3:c.T1304C:p.L435P exonic ENSG00000131446 NA nonsynonymous SNV ENSG00000131446:ENST00000307826:exon2:c.T1304C:p.L435P,ENSG00000131446:ENST00000427865:exon2:c.T1304C:p.L435P,ENSG00000131446:ENST00000333055:exon3:c.T1304C:p.L435P,ENSG00000131446:ENST00000446023:exon3:c.T1304C:p.L435P,ENSG00000131446:ENST00000393340:exon4:c.T1304C:p.L435P Score=349;Name=lod=35 NA 5q35.3 NA NA NA NA rs634501 0.62 0.62 0.765 0.733027 0.7455 0.5526 0.5576 0.879 0.8333 0.67 0.51 0.54 0.72 0.7286 0.84 0.27 T 0.0 B 0.003 B 0.084 N 0.995 P -1.1 N -1.68 D -0.953 T 0.000 T 0.049 -0.912 0.413 3.79 0.470 0.597 7.073 -0.912114 NA 0.39 0.73186 0.838175 ID=COSM449473;OCCURENCE=1(breast) 0.601 NA 8.1273734 847 7 138601706 138601706 C A exonic KIAA1549 NA nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.G2666T:p.G889V,KIAA1549:NM_020910:exon2:c.G2666T:p.G889V exonic ENSG00000122778 NA nonsynonymous SNV ENSG00000122778:ENST00000242365:exon1:c.G2516T:p.G839V,ENSG00000122778:ENST00000422774:exon2:c.G2666T:p.G889V,ENSG00000122778:ENST00000440172:exon2:c.G2666T:p.G889V NA NA 7q34 Score=711;Name=V$NRSF_01 NA NA NA rs2354336 0.03 0.03 0.029 0.0529153 0.0706 0.001 0.0245 0.0257 0.1452 0.07 NA 0.03 0.02 0.0673 0.07 0.23 T 0.218 B 0.058 B 0.586 N 1.000 N 0 N 2.02 T -0.998 T 0.002 T 0.09 0.827 8.334 0.007 -0.198 0.536 10.078 0.827086 NA 0.02 0.068729 0.028053 NA 0.007 NA 8.1267044 847 8 100844758 100844758 T C exonic VPS13B NA synonymous SNV VPS13B:NM_017890:exon52:c.T9567C:p.S3189S,VPS13B:NM_152564:exon52:c.T9492C:p.S3164S exonic ENSG00000132549 NA synonymous SNV ENSG00000132549:ENST00000357162:exon52:c.T9492C:p.S3164S,ENSG00000132549:ENST00000358544:exon52:c.T9567C:p.S3189S NA NA 8q22.2 Score=735;Name=V$NRSF_01 NA Name=5 NA rs36074608 0.21 0.21 0.179 0.197085 0.174 0.3542 0.3458 0.0514 0.1503 0.17 0.34 0.28 0.04 0.1926 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051589 NA NA 0.173605 0.082615 NA 0.159 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081923.3;CLNDSDB=.;CLNDSDBID=. 8.1264616 847 4 88416188 88416188 G T exonic SPARCL1 NA nonsynonymous SNV SPARCL1:NM_004684:exon3:c.C146A:p.A49D,SPARCL1:NM_001128310:exon4:c.C146A:p.A49D exonic ENSG00000152583 NA nonsynonymous SNV ENSG00000152583:ENST00000282470:exon3:c.C146A:p.A49D,ENSG00000152583:ENST00000418378:exon4:c.C146A:p.A49D,ENSG00000152583:ENST00000434434:exon4:c.C146A:p.A49D,ENSG00000152583:ENST00000458304:exon4:c.C146A:p.A49D,ENSG00000152583:ENST00000509407:exon4:c.C146A:p.A49D,ENSG00000152583:ENST00000535835:exon4:c.C146A:p.A49D,ENSG00000152583:ENST00000543631:exon4:c.C146A:p.A49D,ENSG00000152583:ENST00000512317:exon5:c.C146A:p.A49D Score=304;Name=lod=23 NA 4q22.1 NA NA NA NA rs13051 0.52 0.52 0.522 0.57528 0.3787 0.4375 0.5029 0.882 0.5562 0.36 0.4 0.52 0.88 0.4566 0.88 0.73 T 0.0 B 0.0 B 0.051 N 0.000 P -0.975 N 0.95 T -0.993 T 0.000 T 0.23 -1.742 0.01 3.02 0.458 0.896 8.876 -1.742076 NA 0.15 0.371628 0.807081 ID=COSM149709;OCCURENCE=1(stomach) 0.623 NA 8.1264054 847 19 1110829 1110829 G A exonic SBNO2 NA synonymous SNV SBNO2:NM_001100122:exon23:c.C2772T:p.N924N,SBNO2:NM_014963:exon26:c.C2943T:p.N981N exonic ENSG00000064932 NA synonymous SNV ENSG00000064932:ENST00000438103:exon23:c.C2772T:p.N924N,ENSG00000064932:ENST00000361757:exon26:c.C2943T:p.N981N,ENSG00000064932:ENST00000587024:exon26:c.C2913T:p.N971N Score=607;Name=lod=389 NA 19p13.3 Score=857;Name=V$GRE_C Name=AP-2gamma,GR 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 847 11 36484167 36484167 C T exonic PRR5L NA nonsynonymous SNV PRR5L:NM_001160168:exon6:c.C604T:p.P202S,PRR5L:NM_001160167:exon9:c.C988T:p.P330S,PRR5L:NM_024841:exon10:c.C988T:p.P330S exonic ENSG00000135362 NA nonsynonymous SNV ENSG00000135362:ENST00000311599:exon9:c.C769T:p.P257S,ENSG00000135362:ENST00000530639:exon9:c.C988T:p.P330S,ENSG00000135362:ENST00000378867:exon10:c.C988T:p.P330S Score=441;Name=lod=83 NA 11p12 NA NA NA NA rs11033639 0.04 0.04 0.019 0.0407348 0.0716 0.001 0.0706 0.034 0.0378 0.06 NA 0.1 0.01 0.0626 0.1 0.46 T 0.0 B 0.0 B 0.388 N 0.000 P 0 N 2.04 T -0.966 T 0.001 T 0.113 0.226 5.22 -1.75 -0.140 -0.283 5.574 0.226091 NA 0.28 0.073988 0.034075 NA 0.029 NA 8.1251454 848 1 16730308 16730308 G T exonic SPATA21 NA nonsynonymous SNV SPATA21:NM_198546:exon10:c.C915A:p.H305Q exonic ENSG00000187144 NA nonsynonymous SNV ENSG00000187144:ENST00000491418:exon2:c.C39A:p.H13Q,ENSG00000187144:ENST00000540400:exon8:c.C846A:p.H282Q,ENSG00000187144:ENST00000335496:exon10:c.C915A:p.H305Q NA NA 1p36.13 NA NA NA NA rs41269193 0.06 0.06 0.042 0.0511182 0.0736 0.0685 0.0677 0.0061 0.0593 0.07 0.07 0.08 0.01 0.0678 0.08 0.28 T 0.257 B 0.074 B 0.980 N 0.983 N 0.69 N 1.03 T -1.101 T 0.008 T 0.05 1.055 9.308 -4.0 -0.546 -0.795 8.329 1.054863 NA 0.03 0.067791 0.01498 ID=COSM146418;OCCURENCE=1(stomach) 0.043 NA 8.1241424 848 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 848 22 46760481 46760481 C G exonic CELSR1 NA nonsynonymous SNV CELSR1:NM_014246:exon33:c.G8707C:p.E2903Q exonic ENSG00000075275 NA nonsynonymous SNV ENSG00000075275:ENST00000262738:exon33:c.G8707C:p.E2903Q NA NA 22q13.31 NA NA Name=7 NA rs9615351 0.24 0.24 0.266 0.240216 0.2455 0.005 0.1816 0.5492 0.1012 0.23 0.0017 0.2 0.54 0.2226 0.54 0.41 T 0.682 P 0.273 B 0.320 U 1.000 P 1.895 L -0.49 T -0.941 T 0.000 T 0.031 1.636 11.43 -1.76 -0.226 0.527 2.361 1.63584 1.63584 0.27 0.241444 0.524102 ID=COSM445134;OCCURENCE=1(breast) 0.232 NA 8.1237894 848 11 7727886 7727886 C T exonic OVCH2 NA nonsynonymous SNV OVCH2:NM_198185:exon1:c.G56A:p.R19Q exonic ENSG00000183378 NA nonsynonymous SNV ENSG00000183378:ENST00000454689:exon1:c.G56A:p.R19Q NA NA 11p15.4 Score=709;Name=V$PPARG_02 NA NA NA rs7927138 0.37 0.37 0.34 0.403155 0.3728 0.4157 0.5144 0.205 0.6104 0.4 0.43 0.48 0.2 0.4716 0.48 0.71 T 0.0 B 0.0 B 0.675 N 1.000 P -0.805 N -3.1 D -1.001 T 0.000 T 0.127 -2.187 0.005 0.026 0.413 0.179 1.949 -2.187034 NA 0.89 0.366699 0.243982 ID=COSM429902;OCCURENCE=1(breast) 0.333 NA 8.1222344 848 1 236721660 236721660 T C exonic HEATR1 NA nonsynonymous SNV HEATR1:NM_018072:exon36:c.A5081G:p.N1694S exonic ENSG00000119285 NA nonsynonymous SNV ENSG00000119285:ENST00000366581:exon35:c.A4838G:p.N1613S,ENSG00000119285:ENST00000366582:exon36:c.A5081G:p.N1694S NA NA 1q43 NA NA NA NA rs2275689 0.72 0.72 0.698 0.677316 0.7406 0.6825 0.7622 0.702 0.5133 0.73 0.69 0.75 0.71 0.7187 0.77 0.77 T 0.0 B 0.0 B 0.362 N 1.000 P 0.4 N -0.04 T -1.000 T 0.000 T 0.014 -1.007 0.251 -7.78 -1.619 -1.034 10.491 -1.006807 NA 0.82 0.752907 0.723332 NA 0.732 NA 8.1211264 848 9 107266943 107266943 G A exonic OR13F1 NA nonsynonymous SNV OR13F1:NM_001004485:exon1:c.G400A:p.V134I exonic ENSG00000186881 NA nonsynonymous SNV ENSG00000186881:ENST00000334726:exon1:c.G400A:p.V134I NA NA 9q31.1 NA NA NA NA rs1403811 0.78 0.78 0.794 0.782748 0.7475 0.7817 0.7651 0.9062 0.6656 0.75 0.77 0.73 0.89 0.7404 0.89 0.5 T 0.0 B 0.001 B 0.202 N 1.000 P -0.14 N 7.59 T -0.984 T 0.000 T 0.023 -2.774 0 -4.38 -1.774 -1.543 6.969 -2.774428 NA 1 0.725116 0.86246 ID=COSM1459066;OCCURENCE=1(large_intestine) 0.768 NA 8.1203174 848 11 95512060 95512060 A G exonic FAM76B NA synonymous SNV FAM76B:NM_144664:exon8:c.T754C:p.L252L exonic ENSG00000077458 NA synonymous SNV ENSG00000077458:ENST00000358780:exon8:c.T754C:p.L252L,ENSG00000077458:ENST00000536839:exon8:c.T751C:p.L251L Score=717;Name=lod=1094 NA 11q21 Score=723;Name=V$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 848 6 170878793 170878793 T C exonic TBP NA synonymous SNV TBP:NM_001172085:exon5:c.T711C:p.N237N,TBP:NM_003194:exon6:c.T771C:p.N257N exonic ENSG00000112592 NA synonymous SNV ENSG00000112592:ENST00000540980:exon5:c.T711C:p.N237N,ENSG00000112592:ENST00000230354:exon6:c.T771C:p.N257N,ENSG00000112592:ENST00000392092:exon6:c.T771C:p.N257N Score=610;Name=lod=401 NA 6q27 Score=861;Name=V$YY1_01 NA NA NA rs1042327 0.63 0.63 0.643 0.614617 0.5139 0.7877 0.4957 0.7103 0.4949 0.51 0.8 0.54 0.67 0.5319 0.8 . . . . . . . . 0.000 P . . . . -0.946 T 0.124 T . 1.292 10.23 -0.493 -0.240 0.387 13.789 1.291874 1.291874 NA 0.500698 0.656832 NA 0.652 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118601.2;CLNDSDB=.;CLNDSDBID=. 8.1201686 848 9 14747412 14747412 A G exonic FREM1 NA synonymous SNV FREM1:NM_001177704:exon10:c.T1467C:p.V489V,FREM1:NM_144966:exon34:c.T5859C:p.V1953V exonic ENSG00000164946 NA synonymous SNV ENSG00000164946:ENST00000380894:exon10:c.T1467C:p.V489V,ENSG00000164946:ENST00000380880:exon33:c.T5859C:p.V1953V,ENSG00000164946:ENST00000380881:exon34:c.T5862C:p.V1954V,ENSG00000164946:ENST00000422223:exon34:c.T5859C:p.V1953V NA NA 9p22.3 Score=858;Name=V$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 848 7 5643145 5643145 T C exonic FSCN1 NA synonymous SNV FSCN1:NM_003088:exon3:c.T1008C:p.F336F exonic ENSG00000075618 NA synonymous SNV ENSG00000075618:ENST00000382361:exon3:c.T1008C:p.F336F,ENSG00000075618:ENST00000405801:exon3:c.T174C:p.F58F,ENSG00000075618:ENST00000444748:exon3:c.T174C:p.F58F,ENSG00000075618:ENST00000447103:exon3:c.T174C:p.F58F,ENSG00000075618:ENST00000340250:exon4:c.T945C:p.F315F Score=498;Name=lod=141 NA 7p22.1 NA Name=CTCF Name=10 NA rs1640233 0.19 0.19 0.186 0.238219 0.165 0.1766 0.2176 0.32 0.2812 0.17 0.15 0.2 0.28 0.2015 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.02282 NA NA 0.180581 0.286428 NA 0.239 NA 8.1195856 848 2 113763575 113763575 A G exonic IL36A NA nonsynonymous SNV IL36A:NM_014440:exon2:c.A35G:p.Q12R exonic ENSG00000136694 NA nonsynonymous SNV ENSG00000136694:ENST00000259211:exon2:c.A35G:p.Q12R NA NA 2q13 NA NA NA NA rs895497 0.82 0.82 0.791 0.840655 0.7247 0.9901 0.8156 0.764 0.9274 0.73 1 0.79 0.78 0.7869 1 0.53 T 0.0 B 0.0 B 0.001 N 1.000 P 0.345 N 2.29 T -0.993 T 0.000 T 0.013 0.523 6.833 -7.62 -2.239 -2.459 0.754 0.522839 NA 0.36 0.703762 0.770942 ID=COSM441014;OCCURENCE=1(breast) 0.812 NA 8.1179714 848 11 5443887 5443887 T C exonic OR51Q1 NA nonsynonymous SNV OR51Q1:NM_001004757:exon1:c.T457C:p.C153R exonic ENSG00000167360 NA nonsynonymous SNV ENSG00000167360:ENST00000300778:exon1:c.T457C:p.C153R NA NA 11p15.4 NA NA NA NA rs10838093 0.44 0.44 0.387 0.453674 0.3986 0.7024 0.3991 0.2799 0.5276 0.37 0.69 0.41 0.28 0.4251 0.69 1 T 0.0 B 0.0 B 0.000 N 0.999 P -3.13 N 1.25 T -0.933 T 0.000 T 0.072 -2.346 0.004 3.09 0.308 -1.070 6.880 -2.346301 NA 1 0.392134 0.298955 NA 0.319 NA 8.1174994 848 22 38122462 38122462 A G exonic TRIOBP NA nonsynonymous SNV TRIOBP:NM_001039141:exon7:c.A3899G:p.H1300R exonic ENSG00000100106 NA nonsynonymous SNV ENSG00000100106:ENST00000406386:exon7:c.A3899G:p.H1300R Score=448;Name=lod=88 NA 22q13.1 NA NA NA NA rs739138 0.65 0.65 0.617 0.601038 0.7157 0.8859 0.5836 0.1944 0.7515 0.72 0.93 0.61 0.22 0.7412 0.93 1 T 0.0 B 0.0 B . . 0.000 P -0.805 N 2.81 T -1.000 T 0.000 T 0.027 2.065 12.86 3.9 0.503 1.338 4.383 2.065195 2.065195 1 0.758998 0.353299 NA 0.377 NA 8.1174354 848 1 62728838 62728838 T C exonic KANK4 NA nonsynonymous SNV KANK4:NM_181712:exon7:c.A2465G:p.H822R exonic ENSG00000132854 NA nonsynonymous SNV ENSG00000132854:ENST00000371150:exon4:c.A533G:p.H178R,ENSG00000132854:ENST00000354381:exon6:c.A581G:p.H194R,ENSG00000132854:ENST00000371153:exon7:c.A2465G:p.H822R Score=485;Name=lod=125 NA 1p31.3 NA NA NA NA rs2258470 0.72 0.72 0.666 0.716254 0.7396 0.8442 0.7896 0.5484 0.7352 0.74 0.81 0.78 0.53 0.7426 0.81 0.21 T 0.0 B 0.0 B 0.278 N 0.000 P -0.405 N -0.08 T -0.992 T 0.000 T 0.006 1.097 9.476 3.02 0.628 3.307 10.110 1.097021 NA 0.31 0.733953 0.558783 NA 0.812 NA 8.1171804 848 11 5443867 5443867 C T exonic OR51Q1 NA nonsynonymous SNV OR51Q1:NM_001004757:exon1:c.C437T:p.T146I exonic ENSG00000167360 NA nonsynonymous SNV ENSG00000167360:ENST00000300778:exon1:c.C437T:p.T146I NA NA 11p15.4 NA NA NA NA rs10838092 0.44 0.44 0.399 0.453674 0.3986 0.7024 0.3991 0.2799 0.5276 0.37 0.69 0.41 0.28 0.4252 0.69 1 T 0.0 B 0.0 B 0.001 N 0.000 P -2.475 N 1.37 T -0.933 T 0.000 T 0.063 -0.603 1.308 5.0 0.960 0.024 9.981 -0.603044 NA 1 0.392367 0.301681 NA 0.312 NA 8.1171664 848 14 103576395 103576395 G A exonic EXOC3L4 NA synonymous SNV EXOC3L4:NM_001077594:exon11:c.G2004A:p.A668A exonic ENSG00000205436 NA synonymous SNV ENSG00000205436:ENST00000380069:exon11:c.G2004A:p.A668A NA NA 14q32.32 Score=883;Name=V$YY1_01 Name=JunD,BAF155,c-Fos,eGFP-FOS,Egr-1,Mxi1_(bHLH),eGFP-JunD,Pol2-4H8,c-Jun,Ini1,p300 Name=105 NA rs729185 0.32 0.32 0.287 0.313099 0.1322 0.4196 0.4236 0.3487 0.2628 0.14 0.47 0.4 0.36 0.3019 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.698886 NA NA 0.116572 0.293199 NA 0.181 NA 8.1159946 848 3 66419942 66419942 A G exonic SLC25A26 NA synonymous SNV SLC25A26:NM_001164796:exon7:c.A345G:p.A115A,SLC25A26:NM_173471:exon9:c.A609G:p.A203A exonic ENSG00000144741 NA synonymous SNV ENSG00000144741:ENST00000336733:exon7:c.A345G:p.A115A,ENSG00000144741:ENST00000354883:exon9:c.A609G:p.A203A Score=541;Name=lod=211 NA 3p14.1 Score=810;Name=V$EVI1_04 NA NA NA rs1129179 0.11 0.11 0.095 0.0988419 0.1839 0.0873 0.1138 0.0363 0.0971 0.19 0.08 0.13 0.03 0.1761 0.19 . . . . . . . . 0.000 P . . . . -1.018 T 0.000 T . 0.753 7.99 -0.784 0.005 -0.003 3.914 0.753079 NA NA 0.190814 0.066046 NA 0.116 NA 8.1158526 848 1 156563813 156563813 G A exonic APOA1BP NA synonymous SNV APOA1BP:NM_144772:exon6:c.G804A:p.E268E exonic ENSG00000163382 NA nonsynonymous SNV ENSG00000163382:ENST00000368234:exon6:c.G748A:p.E250K Score=587;Name=lod=325 NA 1q23.1 NA NA NA NA rs6668178 0.94 0.94 0.932 0.928514 0.9592 0.9722 0.9568 0.8638 0.9192 0.96 0.97 0.96 0.88 0.9552 0.97 0.03 D 0.0 B 0.0 B 0.000 D 0.000 P . . 0.59 T -1.094 T 0.044 T . 1.01 9.124 1.31 0.301 3.209 4.496 1.009808 NA 1 0.969767 0.857694 NA 0.87 NA 8.115833 848 19 46811984 46811984 A G exonic HIF3A NA synonymous SNV HIF3A:NM_022462:exon4:c.A306G:p.T102T,HIF3A:NM_152796:exon4:c.A306G:p.T102T,HIF3A:NM_152794:exon5:c.A507G:p.T169T,HIF3A:NM_152795:exon5:c.A513G:p.T171T exonic ENSG00000124440 NA synonymous SNV ENSG00000124440:ENST00000420102:exon3:c.A360G:p.T120T,ENSG00000124440:ENST00000600383:exon3:c.A306G:p.T102T,ENSG00000124440:ENST00000244303:exon4:c.A306G:p.T102T,ENSG00000124440:ENST00000472815:exon4:c.A306G:p.T102T,ENSG00000124440:ENST00000300862:exon5:c.A507G:p.T169T,ENSG00000124440:ENST00000339613:exon5:c.A345G:p.T115T,ENSG00000124440:ENST00000377670:exon5:c.A513G:p.T171T Score=522;Name=lod=177 NA 19q13.32 NA NA NA NA rs2311054 0.77 0.77 0.765 0.764177 0.8748 0.7817 0.7378 0.6558 0.7975 0.87 0.78 0.75 0.61 0.8176 0.87 0 D . . . . 0.002 N 0.000 P . . . . -1.031 T 0.000 T . 0.854 8.457 -2.56 -0.847 -4.710 4.112 0.854463 NA NA 0.858491 0.706003 ID=COSM439822,COSM1481238;OCCURENCE=1(breast) 0.768 NA 8.1157756 848 22 17280822 17280822 G A exonic XKR3 NA nonsynonymous SNV XKR3:NM_175878:exon3:c.C428T:p.T143M exonic ENSG00000172967 NA nonsynonymous SNV ENSG00000172967:ENST00000331428:exon3:c.C428T:p.T143M NA NA 22q11.1 NA NA NA NA rs5748648 0.12 0.12 0.116 0.142772 0.0656 0.0952 0.121 0.2458 0.1472 0.07 0.1 0.12 0.23 0.0951 0.23 0.16 T 0.021 B 0.002 B 0.328 N 1.000 P -0.695 N 0.23 T -1.097 T 0.000 T 0.016 0.479 6.601 -1.52 -1.384 0.275 2.115 0.479201 NA 0.1 0.056873 0.196089 NA 0.152 NA 8.1157604 848 16 88872229 88872229 A G exonic CDT1 NA nonsynonymous SNV CDT1:NM_030928:exon5:c.A784G:p.T262A exonic ENSG00000167513 NA nonsynonymous SNV ENSG00000167513:ENST00000301019:exon5:c.A784G:p.T262A NA NA 16q24.3 NA NA Name=9 NA rs480727 0.57 0.57 0.595 0.571286 0.3897 0.7024 0.5043 0.7526 0.4254 0.38 0.73 0.47 0.74 0.4442 0.74 0.52 T 0.003 B 0.007 B 0.705 N 1.000 P 0 N 1.84 T -1.004 T 0.000 T 0.232 -1.252 0.05 -1.33 -0.900 -0.763 5.538 -1.252044 NA NA 0.384365 0.712984 NA 0.471 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116654.2;CLNDSDB=.;CLNDSDBID=. 8.1150684 849 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 849 12 48596579 48596579 C T exonic OR10AD1 NA nonsynonymous SNV OR10AD1:NM_001004134:exon1:c.G497A:p.R166Q exonic ENSG00000172640 NA nonsynonymous SNV ENSG00000172640:ENST00000310248:exon1:c.G497A:p.R166Q NA NA 12q13.11 NA NA NA NA rs17224674 0.03 0.03 0.029 0.0245607 0.0815 NA 0.0317 0.0076 0.0092 0.08 NA 0.02 0.01 0.0564 0.083 0.54 T 0.068 B 0.009 B 0.342 N 1.000 N -0.095 N 8.67 T -1.139 T 0.000 T 0.034 -0.123 3.399 0.729 0.348 -2.917 3.359 -0.122722 NA 0.07 0.082907 0.020427 NA 0.029 NA 8.1125264 849 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 849 6 170862300 170862300 G C exonic PSMB1 NA nonsynonymous SNV PSMB1:NM_002793:exon1:c.C31G:p.P11A exonic ENSG00000008018 NA nonsynonymous SNV ENSG00000008018:ENST00000262193:exon1:c.C31G:p.P11A NA NA 6q27 NA Name=Pol2(phosphoS2),Pol2,HA-E2F1,CHD2_(N-1250),TAF7_(SQ-8),Ini1,p300,TCF12,HDAC2_(SC-6296),MafK_(ab50322),GTF2B,POU2F2,IRF4_(M-17),NFKB,BCL3,TAF1,Pol2-4H8,CTCF_(SC-5916),SP2_(SC-643),GABP,ETS1,HNF4G_(SC-6558),HEY1,ELF1_(SC-631),BCLAF1_(M33-P5B11),YY1_(C-20),Max,TCF4,Nrf1,IRF1,c-Myc,Oct-2,eGFP-JunD,Sin3Ak-20,PAX5-C20,NRSF,TBP,CCNT2,ELK4,Pol2(b),YY1,WHIP,CEBPB,GTF2F1_(RAP-74),ZNF263 Name=148 NA rs12717 0.48 0.48 0.46 0.45008 0.4085 0.7728 0.3991 0.2708 0.4387 0.4 0.79 0.42 0.29 0.4251 0.79 0.34 T 0.0 B 0.0 B 0.965 N 1.000 P 0.345 N 1.85 T -0.945 T 0.012 T 0.028 1.324 10.34 0.413 -0.128 0.024 6.025 1.324311 1.324311 0.28 0.389625 0.296868 NA 0.406 NA 8.1101084 849 19 36003962 36003962 T C exonic DMKN NA nonsynonymous SNV DMKN:NM_001126056:exon1:c.A416G:p.N139S,DMKN:NM_001126057:exon1:c.A416G:p.N139S,DMKN:NM_001126058:exon1:c.A416G:p.N139S,DMKN:NM_001190347:exon1:c.A416G:p.N139S,DMKN:NM_001190348:exon1:c.A416G:p.N139S,DMKN:NM_001190349:exon1:c.A416G:p.N139S,DMKN:NM_033317:exon1:c.A416G:p.N139S exonic ENSG00000161249 NA nonsynonymous SNV ENSG00000161249:ENST00000339686:exon1:c.A416G:p.N139S,ENSG00000161249:ENST00000418261:exon1:c.A416G:p.N139S,ENSG00000161249:ENST00000419602:exon1:c.A416G:p.N139S,ENSG00000161249:ENST00000424570:exon1:c.A416G:p.N139S,ENSG00000161249:ENST00000429837:exon1:c.A416G:p.N139S,ENSG00000161249:ENST00000440396:exon1:c.A416G:p.N139S,ENSG00000161249:ENST00000447113:exon1:c.A416G:p.N139S,ENSG00000161249:ENST00000451297:exon1:c.A416G:p.N139S NA NA 19q13.12 NA NA NA NA rs7247001 0.1 0.1 0.109 0.105032 0.0755 0.006 0.0432 0.2443 0.093 0.08 0.0017 0.06 0.26 0.0788 0.26 0.41 T 0.376 B 0.179 B . . 1.000 P 1.5 L 2.8 T -0.943 T 0.000 T 0.117 0.596 7.215 0.85 0.388 -1.055 4.491 0.596162 NA 0.14 0.068953 0.21153 NA 0.109 NA 8.1100804 849 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 849 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 849 1 201351421 201351421 T A exonic LAD1 NA nonsynonymous SNV LAD1:NM_005558:exon9:c.A1507T:p.T503S exonic ENSG00000159166 NA nonsynonymous SNV ENSG00000159166:ENST00000503578:exon6:c.A460T:p.T154S,ENSG00000159166:ENST00000367313:exon9:c.A1549T:p.T517S,ENSG00000159166:ENST00000391967:exon9:c.A1507T:p.T503S Score=295;Name=lod=21 NA 1q32.1 NA NA NA NA rs2275866 0.05 0.05 0.056 0.0457268 0.0716 0.0605 0.0519 0.0076 0.0511 0.08 0.05 0.06 0.01 0.072 0.082 0.56 T 0.206 B 0.124 B 0.209 N 1.000 N 1.445 L 2.78 T -1.069 T 0.005 T 0.079 1.746 11.8 0.451 -0.018 0.043 3.250 1.745742 1.745742 0.54 0.08186 0.022696 NA 0.007 NA 8.1078734 849 22 36587202 36587202 G A exonic APOL4 NA unknown UNKNOWN exonic ENSG00000100336 NA nonsynonymous SNV ENSG00000100336:ENST00000352371:exon6:c.C974T:p.S325L,ENSG00000100336:ENST00000332987:exon7:c.C965T:p.S322L NA NA 22q12.3 NA NA NA NA rs6000172 0.62 0.62 0.628 0.646965 0.496 0.8234 0.5317 0.7307 0.589 0.46 0.8 0.56 0.7 0.5621 0.8 0.18 T 0.216 B 0.102 B 0.866 N 1.000 P 0.345 N 3.97 T -1.056 T 0.000 T . 0.069 4.376 -4.41 -1.840 -1.252 0.477 0.069337 NA 0.13 0.501535 0.673133 NA 0.609 NA 8.1070317 849 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 849 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 850 4 68380070 68380070 C T exonic CENPC1 NA nonsynonymous SNV CENPC1:NM_001812:exon8:c.G1166A:p.G389D exonic ENSG00000145241 NA nonsynonymous SNV ENSG00000145241:ENST00000513216:exon4:c.G887A:p.G296D,ENSG00000145241:ENST00000273853:exon8:c.G1166A:p.G389D,ENSG00000145241:ENST00000506882:exon8:c.G1166A:p.G389D NA NA 4q13.2 NA NA NA NA rs1056787 0.04 0.04 0.036 0.0247604 0.0755 NA 0.0519 0.0045 0.0061 0.08 NA 0.06 0.0041 0.0632 0.09 1 T 0.0 B 0.0 B 0.876 N 1.000 P -0.255 N . . -1.008 T 0.002 T 0.03 -0.205 3.004 2.17 0.370 0.306 4.465 -0.205492 NA 0.94 0.090341 0.018242 NA 0.159 NA 8.1042924 850 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 850 10 7605067 7605067 C T exonic ITIH5 NA nonsynonymous SNV ITIH5:NM_032817:exon11:c.G2165A:p.R722Q,ITIH5:NM_030569:exon15:c.G2807A:p.R936Q exonic ENSG00000123243 NA nonsynonymous SNV ENSG00000123243:ENST00000446830:exon15:c.G2150A:p.R717Q NA NA 10p14 NA NA NA NA rs3824658 0.59 0.59 0.595 0.571685 0.7694 0.5179 0.6225 0.407 0.6104 0.77 0.45 0.67 0.42 0.6936 0.77 0.44 T . . . . . . 1.000 P . . 4.64 T -1.046 T 0.000 T 0.025 1.277 10.17 -6.94 -1.075 -1.061 2.044 1.27654 1.27654 0.42 0.767093 0.464594 NA 0.652 NA 8.1032404 850 10 64974537 64974537 A T exonic JMJD1C NA nonsynonymous SNV JMJD1C:NM_004241:exon5:c.T733A:p.S245T,JMJD1C:NM_032776:exon8:c.T1390A:p.S464T exonic ENSG00000171988 NA nonsynonymous SNV ENSG00000171988:ENST00000402544:exon5:c.T733A:p.S245T,ENSG00000171988:ENST00000542921:exon7:c.T844A:p.S282T,ENSG00000171988:ENST00000399251:exon8:c.T733A:p.S245T,ENSG00000171988:ENST00000399262:exon8:c.T1390A:p.S464T NA NA 10q21.3 NA NA Name=17 NA rs10761725 0.53 0.53 0.527 0.511382 0.7783 0.377 0.4669 0.3154 0.6718 0.78 0.4 0.52 0.3 0.6728 0.78 0.28 T 0.116 B 0.036 B 0.022 N 1.000 P 1.04 L 2.52 T -1.088 T 0.000 T 0.103 0.704 7.754 3.24 0.951 0.761 8.722 0.703933 NA 0.05 0.779053 0.411812 NA 0.522 NA 8.1031804 850 X 70349947 70349947 A C exonic MED12 NA synonymous SNV MED12:NM_005120:exon28:c.A3930C:p.P1310P exonic ENSG00000184634 NA synonymous SNV ENSG00000184634:ENST00000439750:exon2:c.A165C:p.P55P,ENSG00000184634:ENST00000333646:exon28:c.A3930C:p.P1310P,ENSG00000184634:ENST00000374080:exon28:c.A3930C:p.P1310P,ENSG00000184634:ENST00000374102:exon28:c.A3930C:p.P1310P,ENSG00000184634:ENST00000430072:exon28:c.A3834C:p.P1278P Score=633;Name=lod=500 NA Xq13.1 Score=863;Name=V$MRF2_01 NA NA NA rs5030619 0.15 0.15 0.14467 NA NA NA NA NA NA 0.33 NA 0.19 0.02 0.2461 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.768047 NA NA 0.317622 0.057095 NA 0.167 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081261.3;CLNDSDB=.;CLNDSDBID=. 8.1029446 850 1 3753136 3753136 A T exonic CEP104 NA nonsynonymous SNV CEP104:NM_014704:exon10:c.T1240A:p.L414I exonic ENSG00000116198 NA nonsynonymous SNV ENSG00000116198:ENST00000443466:exon3:c.T322A:p.L108I,ENSG00000116198:ENST00000378230:exon10:c.T1240A:p.L414I NA NA 1p36.32 NA NA Name=20 NA rs2275824 0.34 0.34 0.292 0.302716 0.4284 0.3383 0.487 0.0605 0.3333 0.43 0.35 0.45 0.09 0.3698 0.45 0.3 T 0.022 B 0.018 B 0.863 N 1.000 P 0 N 2.35 T -0.898 T 0.000 T 0.2 2.179 13.24 -3.25 -0.328 -0.281 2.575 2.178767 2.178767 0.04 0.433953 0.124149 NA 0.326 NA 8.1011804 850 20 62196253 62196253 C A exonic HELZ2 NA nonsynonymous SNV HELZ2:NM_033405:exon3:c.G2215T:p.V739L,HELZ2:NM_001037335:exon9:c.G3922T:p.V1308L exonic ENSG00000130589 NA nonsynonymous SNV ENSG00000130589:ENST00000427522:exon3:c.G2215T:p.V739L,ENSG00000130589:ENST00000467148:exon8:c.G3922T:p.V1308L NA NA 20q13.33 NA NA NA NA rs310631 0.36 0.36 0.315 0.364417 0.4105 0.1587 0.3876 0.4644 0.3773 0.4 0.17 0.36 0.5 0.3963 0.5 0.15 T 0.088 B 0.046 B 0.000 N 1.000 P 0 N 1.6 T -0.934 T 0.000 T 0.019 -0.881 0.479 -3.42 -0.528 -1.448 4.661 -0.880862 NA 0.63 0.426426 0.438353 NA 0.333 NA 8.1001074 850 10 115922492 115922492 C T exonic C10orf118 NA nonsynonymous SNV C10orf118:NM_018017:exon2:c.G536A:p.R179Q exonic ENSG00000165813 NA nonsynonymous SNV ENSG00000165813:ENST00000369286:exon2:c.G536A:p.R179Q,ENSG00000165813:ENST00000369287:exon2:c.G536A:p.R179Q,ENSG00000165813:ENST00000369285:exon3:c.G536A:p.R179Q Score=550;Name=lod=230 NA 10q25.3 NA NA NA NA rs12782946 0.05 0.05 0.035 0.0311502 0.0974 NA 0.0706 0.0015 0.0072 0.1 NA 0.08 0.002 0.0536 0.1 0.46 T 0.0 B 0.0 B 0.069 N 0.000 P -0.205 N 1.58 T -1.004 T 0.001 T 0.018 2.121 13.05 -1.27 -0.272 -0.072 11.252 2.121216 2.121216 0.76 0.082577 0.02089 NA 0.022 NA 8.0997564 850 11 56185345 56185345 A G exonic OR5R1 NA nonsynonymous SNV OR5R1:NM_001004744:exon1:c.T364C:p.C122R exonic ENSG00000174942 NA nonsynonymous SNV ENSG00000174942:ENST00000312253:exon1:c.T364C:p.C122R Score=452;Name=lod=92 NA 11q12.1 NA NA NA NA rs6591324 0.76 0.76 0.758 0.769768 0.7247 0.7798 0.8285 0.7443 0.7986 0.74 0.8 0.8 0.7 0.7655 0.8 1 T 0.0 B 0.0 B 0.005 N 0.028 P -2.53 N 3.55 T -1.026 T 0.000 T 0.05 -0.671 1.068 2.72 0.377 2.048 6.081 -0.67093 NA 1 0.744064 0.763971 NA 0.616 NA 8.0990694 850 11 18555949 18555949 T C exonic UEVLD NA synonymous SNV UEVLD:NM_001261384:exon9:c.A786G:p.L262L,UEVLD:NM_001261382:exon10:c.A1110G:p.L370L,UEVLD:NM_001040697:exon11:c.A1176G:p.L392L exonic ENSG00000151116 NA synonymous SNV ENSG00000151116:ENST00000379387:exon10:c.A1110G:p.L370L,ENSG00000151116:ENST00000396197:exon11:c.A1176G:p.L392L Score=545;Name=lod=219 NA 11p15.1 NA Name=HNF4A_(H-171) Name=2 NA rs55999230 0.24 0.24 0.217 0.251997 0.1958 0.4415 0.2363 0.0469 0.4029 0.18 0.48 0.21 0.06 0.2165 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.289206 1.289206 NA 0.15532 0.069189 NA 0.319 NA 8.0990466 850 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 850 1 112308953 112308953 T C exonic DDX20 NA nonsynonymous SNV DDX20:NM_007204:exon11:c.T1907C:p.I636T exonic ENSG00000064703 NA nonsynonymous SNV ENSG00000064703:ENST00000475700:exon3:c.T731C:p.I244T,ENSG00000064703:ENST00000369702:exon11:c.T1907C:p.I636T NA NA 1p13.2 NA NA NA NA rs197412 0.48 0.48 0.478 0.474441 0.4185 0.3403 0.5072 0.7247 0.3088 0.42 0.35 0.45 0.73 0.4271 0.73 . . 0.0 B 0.0 B 0.011 N 0.998 P -1.1 N 1.98 T -0.985 T 0.009 T 0.05 -2.07 0.006 3.86 0.463 2.183 5.181 -2.070387 NA 0.8 0.388953 0.669542 NA 0.565 NA 8.0987804 850 11 18555901 18555901 C G exonic UEVLD NA synonymous SNV UEVLD:NM_001261384:exon9:c.G834C:p.V278V,UEVLD:NM_001261382:exon10:c.G1158C:p.V386V,UEVLD:NM_001040697:exon11:c.G1224C:p.V408V exonic ENSG00000151116 NA synonymous SNV ENSG00000151116:ENST00000379387:exon10:c.G1158C:p.V386V,ENSG00000151116:ENST00000396197:exon11:c.G1224C:p.V408V Score=459;Name=lod=98 NA 11p15.1 NA Name=HNF4A_(H-171) Name=2 NA rs56151250 0.24 0.24 0.221 0.251997 0.1958 0.4415 0.2363 0.0469 0.4029 0.18 0.48 0.21 0.06 0.2174 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.93987 NA NA 0.154741 0.068994 NA 0.319 NA 8.0987256 850 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 850 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 850 10 73082563 73082563 A G exonic SLC29A3 NA nonsynonymous SNV SLC29A3:NM_001174098:exon2:c.A52G:p.R18G,SLC29A3:NM_018344:exon2:c.A52G:p.R18G exonic ENSG00000198246 NA nonsynonymous SNV ENSG00000198246:ENST00000373189:exon2:c.A52G:p.R18G NA NA 10q22.1 NA NA NA NA rs2277257 0.45 0.45 0.455 0.469249 0.4006 0.3601 0.3444 0.7005 0.4284 0.39 0.38 0.36 0.68 0.4247 0.68 0.17 T 0.001 B 0.002 B 0.280 N 0.971 P 1.95 M -0.32 T -0.950 T 0.000 T 0.051 0.411 6.233 1.21 0.363 0.728 7.375 0.411183 NA 0.09 0.411279 0.635951 NA 0.514 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118380.2;CLNDSDB=.;CLNDSDBID=. 8.0967544 850 3 120389316 120389316 T A exonic HGD NA nonsynonymous SNV HGD:NM_000187:exon4:c.A240T:p.Q80H exonic ENSG00000113924 NA nonsynonymous SNV ENSG00000113924:ENST00000476082:exon3:c.A117T:p.Q39H,ENSG00000113924:ENST00000283871:exon4:c.A240T:p.Q80H NA NA 3q13.33 Score=868;Name=V$ATF6_01 NA NA NA rs2255543 0.74 0.74 0.747 0.731629 0.7654 0.6429 0.8112 0.7821 0.6636 0.75 0.62 0.81 0.8 0.7353 0.81 0.67 T 0.0 B 0.0 B 0.001 N 1.000 P -0.345 N -5.18 D -0.937 T 0.000 T 0.039 0.958 8.908 -2.23 -0.300 -0.244 3.441 0.957997 NA 0.48 0.736499 0.756922 NA 0.804 NA 8.0961344 850 19 15784386 15784386 C T exonic CYP4F12 NA nonsynonymous SNV CYP4F12:NM_023944:exon2:c.C47T:p.T16M exonic ENSG00000186204 NA nonsynonymous SNV ENSG00000186204:ENST00000324632:exon1:c.C47T:p.T16M,ENSG00000186204:ENST00000552048:exon1:c.C26T:p.T9M,ENSG00000186204:ENST00000517734:exon2:c.C47T:p.T16M,ENSG00000186204:ENST00000547332:exon2:c.C47T:p.T16M,ENSG00000186204:ENST00000548237:exon2:c.C47T:p.T16M,ENSG00000186204:ENST00000548435:exon2:c.C47T:p.T16M,ENSG00000186204:ENST00000550308:exon2:c.C47T:p.T16M NA NA 19p13.12 NA Name=Rad21,TCF4,TAF1,HEY1,CHD2_(N-1250),CTCF Name=7 NA rs16995378 0.93 0.93 0.929 0.869808 0.8728 0.998 0.9265 0.7738 0.8241 0.92 1 0.96 0.85 0.9341 1 0.08 T 0.941 P 0.34 B 0.002 U 1.000 P 0.345 N -2.34 D -0.835 T 0.000 T 0.138 1.409 10.65 1.42 0.609 0.418 5.398 1.408957 1.408957 0.08 0.930333 0.878864 NA 0.87 NA 8.0961004 850 2 121726447 121726447 G A exonic GLI2 NA synonymous SNV GLI2:NM_005270:exon5:c.G801A:p.S267S exonic ENSG00000074047 NA nonsynonymous SNV ENSG00000074047:ENST00000360874:exon3:c.G388A:p.G130S NA NA 2q14.2 Score=730;Name=V$NRSF_01 NA NA NA rs2592595 0.85 0.85 0.847 0.827276 0.9801 0.999 0.938 0.407 0.9826 0.98 1 0.93 0.42 0.9401 1 0.99 T 0.006 B 0.01 B . . 0.000 P . . . . -0.987 T 0.000 T . 0.627 7.371 -9.82 -2.599 -5.509 9.206 0.626728 NA 0.99 0.983837 0.468452 NA 0.797 NA 8.095963 850 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$FOXO3_01 NA NA NA rs628524 0.68 0.68 0.658 0.69389 0.7455 0.875 0.7651 0.3608 0.8538 0.73 0.87 0.78 0.29 0.7449 0.87 1 T 0.0 B 0.001 B . . 1.000 P -2.71 N 9.04 T -1.000 T 0.000 T 0.012 -0.688 1.011 3.98 0.447 -0.108 8.636 -0.688012 NA 1 0.747576 0.439532 NA 0.674 NA 8.0953574 851 1 248457979 248457979 C A exonic OR2T12 NA nonsynonymous SNV OR2T12:NM_001004692:exon1:c.G902T:p.R301L exonic ENSG00000177201 NA nonsynonymous SNV ENSG00000177201:ENST00000317996:exon1:c.G902T:p.R301L NA NA 1q44 NA NA NA NA rs6667171 0.77 0.77 0.717 0.794728 0.7177 0.8591 0.7608 0.7496 0.8926 0.74 0.86 0.71 0.74 0.7749 0.86 0 D 0.01 B 0.014 B 0.510 U 1.000 P 1.945 M 1.04 T -0.917 T 0.000 T 0.119 0.987 9.029 -1.12 -0.207 -1.839 5.252 0.986776 NA 0.01 0.74814 0.76759 NA 0.754 NA 8.0925934 851 19 14682804 14682804 G C exonic NDUFB7 NA synonymous SNV NDUFB7:NM_004146:exon1:c.C9G:p.A3A exonic ENSG00000099795 NA synonymous SNV ENSG00000099795:ENST00000215565:exon1:c.C9G:p.A3A,ENSG00000099795:ENST00000593353:exon1:c.C9G:p.A3A Score=415;Name=lod=65 NA 19p13.12 Score=879;Name=V$AREB6_03 Name=Pol2(phosphoS2),Pol2,USF2,GATA-2,p300,CTCF,NFKB,RFX5_(N-494),TAF1,Pol2-4H8,GABP,SP2_(SC-643),HEY1,KAP1,ELF1_(SC-631),STAT1,YY1_(C-20),Max,Nrf1,SP1,c-Myc,Sin3Ak-20,Mxi1_(bHLH),TBP,TR4,ELK4,Pol2(b),GTF2F1_(RAP-74),ZNF263,JunD Name=2 NA rs9543 0.52 0.52 0.561 0.541134 0.497 0.2808 0.4524 0.8351 0.5204 0.49 0.33 0.48 0.83 0.5642 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 0.361188 NA NA 0.513976 0.77459 NA 0.529 NA 8.0914906 851 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 851 20 60713332 60713332 A G exonic PSMA7 NA synonymous SNV PSMA7:NM_002792:exon5:c.T486C:p.G162G exonic ENSG00000101182 NA synonymous SNV ENSG00000101182:ENST00000370861:exon5:c.T276C:p.G92G,ENSG00000101182:ENST00000370873:exon5:c.T486C:p.G162G Score=492;Name=lod=133 NA 20q13.33 Score=819;Name=V$CDPCR3_01 Name=Pol2 NA NA rs1135961 0.87 0.87 0.874 0.85643 0.8678 0.8165 0.8818 0.91 0.7955 0.87 0.83 0.88 0.9 0.8524 0.92 . . . . . . . . 0.000 P . . . . -1.059 T 0.000 T . 1.214 9.93 2.79 0.584 0.350 11.75 1.214463 NA NA 0.856163 0.907172 NA 0.899 NA 8.0903036 851 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 851 3 195501149 195501149 C T exonic MUC4 NA nonsynonymous SNV MUC4:NM_138297:exon2:c.G110A:p.G37D,MUC4:NM_004532:exon3:c.G263A:p.G88D,MUC4:NM_018406:exon4:c.G12971A:p.G4324D exonic ENSG00000145113 NA nonsynonymous SNV ENSG00000145113:ENST00000349607:exon2:c.G110A:p.G37D,ENSG00000145113:ENST00000346145:exon3:c.G263A:p.G88D,ENSG00000145113:ENST00000462323:exon4:c.G12971A:p.G4324D,ENSG00000145113:ENST00000463781:exon4:c.G12971A:p.G4324D,ENSG00000145113:ENST00000466475:exon4:c.G12985A:p.A4329T,ENSG00000145113:ENST00000470451:exon4:c.G12971A:p.G4324D,ENSG00000145113:ENST00000475231:exon4:c.G12971A:p.G4324D,ENSG00000145113:ENST00000477086:exon4:c.G12971A:p.G4324D,ENSG00000145113:ENST00000477756:exon4:c.G12971A:p.G4324D,ENSG00000145113:ENST00000478156:exon4:c.G12971A:p.G4324D,ENSG00000145113:ENST00000479406:exon4:c.G12985A:p.A4329T,ENSG00000145113:ENST00000480843:exon4:c.G12971A:p.G4324D NA NA 3q29 NA NA NA NA rs2259292 0.6 0.6 0.584 0.586262 0.5805 0.7609 0.5058 0.556 0.5102 0.58 0.72 0.48 0.6 0.5856 0.72 0.6 T 0.478 P 0.125 B 0.098 N 1.000 P 0.14 N 1.57 T -0.934 T 0.000 T 0.42 1.281 10.19 -2.14 -0.309 -2.510 0.199 1.281055 1.281055 0.59 0.580349 0.586019 NA 0.572 NA 8.0868844 851 11 120099679 120099679 G A exonic OAF NA nonsynonymous SNV OAF:NM_178507:exon4:c.G650A:p.R217H exonic ENSG00000184232 NA nonsynonymous SNV ENSG00000184232:ENST00000328965:exon4:c.G650A:p.R217H,ENSG00000184232:ENST00000531220:exon4:c.G302A:p.R101H Score=571;Name=lod=280 NA 11q23.3 NA NA Name=11 NA rs2508490 0.53 0.53 0.505 0.489217 0.7922 0.1359 0.5951 0.4879 0.4683 0.8 0.13 0.64 0.51 0.6619 0.8 0.35 T 0.006 B 0.001 B 0.100 N 0.999 P -0.695 N 1.51 T -1.036 T 0.000 T 0.058 0.445 6.417 -2.51 -0.376 0.775 7.389 0.44511 NA 0.21 0.792859 0.535633 NA 0.558 NA 8.0863744 851 10 105194086 105194086 C T exonic PDCD11 NA nonsynonymous SNV PDCD11:NM_014976:exon24:c.C3646T:p.L1216F exonic ENSG00000148843 NA nonsynonymous SNV ENSG00000148843:ENST00000369797:exon24:c.C3646T:p.L1216F Score=493;Name=lod=135 NA 10q24.33 NA NA NA NA rs2986014 0.42 0.42 0.423 0.478435 0.4235 0.4236 0.402 0.4803 0.6431 0.42 0.42 0.38 0.47 0.4291 0.47 0.71 T 0.0 B 0.0 B 0.003 N 1.000 P -0.345 N 2.26 T -0.926 T 0.000 T 0.049 -0.788 0.71 5.23 0.947 0.859 5.226 -0.787661 NA 0.88 0.394767 0.448252 NA 0.406 NA 8.0859664 851 14 94756794 94756794 T C exonic SERPINA10 NA nonsynonymous SNV SERPINA10:NM_001100607:exon2:c.A137G:p.K46R,SERPINA10:NM_016186:exon2:c.A137G:p.K46R exonic ENSG00000140093 NA nonsynonymous SNV ENSG00000140093:ENST00000554173:exon1:c.A137G:p.K46R,ENSG00000140093:ENST00000261994:exon2:c.A137G:p.K46R,ENSG00000140093:ENST00000393096:exon2:c.A137G:p.K46R,ENSG00000140093:ENST00000554723:exon2:c.A257G:p.K86R NA NA 14q32.13 NA NA NA NA rs941590 0.57 0.57 0.591 0.627995 0.3618 0.6558 0.4899 0.8956 0.6094 0.36 0.66 0.44 0.9 0.4931 0.9 0.53 T 0.0 B 0.0 B 0.054 N 1.000 P 0 N -1.94 D -0.948 T 0.000 T 0.018 0.202 5.09 -0.49 -0.739 -3.317 1.476 0.202249 NA 0.8 0.392558 0.807762 NA 0.623 NA 8.0858754 851 12 48596484 48596484 A T exonic OR10AD1 NA nonsynonymous SNV OR10AD1:NM_001004134:exon1:c.T592A:p.W198R exonic ENSG00000172640 NA nonsynonymous SNV ENSG00000172640:ENST00000310248:exon1:c.T592A:p.W198R NA NA 12q13.11 NA NA NA NA rs75413005 0.05 0.05 0.046 0.0425319 0.0924 0.006 0.036 0.059 0.0112 0.09 0.01 0.02 0.04 0.067 0.09 0.15 T 0.0 B 0.0 B 0.491 N 1.000 N -0.61 N 8.79 T -1.047 T 0.000 T 0.027 -0.637 1.186 2.31 0.070 -0.220 2.601 -0.63681 NA 0.3 0.088837 0.062415 NA 0.043 NA 8.0850964 852 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=E2F4,NRSF,PAX5-C20,CCNT2,E2F6,Pol2(phosphoS2),Pol2,HA-E2F1,ELF1_(SC-631),HEY1,GATA-1,NFKB,TAF1,ZEB1_(SC-25388),HMGN3,Pol2-4H8 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 852 1 46476587 46476587 T G exonic MAST2 NA nonsynonymous SNV MAST2:NM_015112:exon10:c.T1164G:p.D388E exonic ENSG00000086015 NA nonsynonymous SNV ENSG00000086015:ENST00000372008:exon8:c.T819G:p.D273E,ENSG00000086015:ENST00000361297:exon10:c.T1164G:p.D388E Score=514;Name=lod=164 NA 1p34.1 NA NA NA NA rs11211247 0.86 0.86 0.868 0.874401 0.7177 0.9841 0.8674 0.9221 0.863 0.72 0.99 0.86 0.92 0.7924 0.99 1 T 0.0 B 0.002 B 0.000 N 0.000 P -1.28 N 1.87 T -0.982 T 0.000 T 0.107 -0.311 2.521 2.69 0.330 1.326 5.815 -0.310747 NA 1 0.738908 0.890583 ID=COSM1343092;OCCURENCE=1(large_intestine) 0.848 NA 8.0843254 852 6 166721224 166721224 C G exonic PRR18 NA nonsynonymous SNV PRR18:NM_175922:exon1:c.G407C:p.C136S exonic ENSG00000176381 NA nonsynonymous SNV ENSG00000176381:ENST00000322583:exon1:c.G407C:p.C136S Score=559;Name=lod=250 NA 6q27 NA NA Name=7 NA rs7757150 0.8 0.8 0.841 0.801518 0.7475 0.9206 0.621 0.8676 0.773 0.74 0.92 0.62 0.88 0.7487 0.92 1 T 0.0 B 0.0 B 0.444 N 1.000 P -0.895 N 1.45 T -0.918 T 0.007 T 0.046 -0.959 0.326 2.49 0.247 -0.220 8.746 -0.958761 NA 1 0.752862 0.856178 NA NA NA 8.0842714 852 6 26056072 26056072 G C exonic HIST1H1C NA synonymous SNV HIST1H1C:NM_005319:exon1:c.C585G:p.P195P exonic ENSG00000187837 NA synonymous SNV ENSG00000187837:ENST00000343677:exon1:c.C585G:p.P195P Score=410;Name=lod=62 NA 6p22.2 NA Name=YY1,WHIP,Oct-2,YY1_(C-20),ZBTB33,Pol2-4H8,BCLAF1_(M33-P5B11),HEY1,ETS1,Pol2,USF2,Pol2(phosphoS2),POU2F2,TAF7_(SQ-8) Name=148 NA rs8384 0.14 0.14 0.097 0.116214 0.1958 0.1627 0.121 0.0484 0.0746 0.2 0.14 0.12 0.05 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 0.820671 NA NA 0.218721 0.07172 NA 0.065 NA 8.0839456 852 2 10350599 10350599 G C exonic C2orf48 NA nonsynonymous SNV C2orf48:NM_182626:exon3:c.G356C:p.W119S exonic ENSG00000163009 NA nonsynonymous SNV ENSG00000163009:ENST00000381786:exon4:c.G356C:p.W119S NA NA 2p25.1 NA NA NA NA rs7423163 0.04 0.04 0.026 0.0285543 0.0954 NA 0.0389 0.0038 0.0153 0.1 NA 0.05 0.01 0.0611 0.1 0 D 0.006 B 0.003 B . . 1.000 P 0 N 1.34 T -1.061 T 0.001 T 0.171 -0.042 3.798 0.56 0.173 -0.051 5.538 -0.042247 NA NA 0.093023 0.018157 NA 0.014 NA 8.0838104 852 16 48175235 48175235 G T exonic ABCC12 NA nonsynonymous SNV ABCC12:NM_033226:exon3:c.C305A:p.A102E exonic ENSG00000140798 NA nonsynonymous SNV ENSG00000140798:ENST00000311303:exon3:c.C305A:p.A102E,ENSG00000140798:ENST00000416054:exon3:c.C305A:p.A102E,ENSG00000140798:ENST00000448542:exon3:c.C305A:p.A102E,ENSG00000140798:ENST00000497206:exon3:c.C305A:p.A102E,ENSG00000140798:ENST00000529504:exon3:c.C305A:p.A102E,ENSG00000140798:ENST00000532494:exon3:c.C305A:p.A102E,ENSG00000140798:ENST00000534418:exon3:c.C305A:p.A102E,ENSG00000140798:ENST00000527640:exon4:c.C305A:p.A102E,ENSG00000140798:ENST00000533639:exon4:c.C305A:p.A102E,ENSG00000140798:ENST00000529084:exon5:c.C305A:p.A102E NA NA 16q12.1 NA NA NA NA rs16945874 0.14 0.14 0.127 0.145367 0.0875 NA 0.0879 0.4297 0.0112 0.09 NA 0.11 0.39 0.0909 0.39 1 T 0.001 B 0.015 B 0.033 N 1.000 P 0.84 L 1.01 T -0.953 T 0.000 T 0.073 -0.333 2.421 2.93 0.438 0.911 7.871 -0.333064 NA 0.92 0.071279 0.352567 NA 0.152 NA 8.0836544 852 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 852 7 151873853 151873853 C T exonic MLL3 NA synonymous SNV MLL3:NM_170606:exon38:c.G8685A:p.Q2895Q exonic ENSG00000055609 NA synonymous SNV ENSG00000055609:ENST00000262189:exon38:c.G8685A:p.Q2895Q,ENSG00000055609:ENST00000355193:exon38:c.G8685A:p.Q2895Q NA NA 7q36.1 NA NA NA NA rs6464211 0.35 0.35 0.356 0.382788 0.17 0.3016 0.2392 0.7549 0.2843 0.18 0.3 0.25 0.73 0.2494 0.73 . . . . . . . . 0.999 P . . . . -0.966 T 0.000 T . -1.957 0.007 -3.6 -1.511 0.169 0.867 -1.957464 NA NA 0.163721 0.687699 NA 0.37 NA 8.0835456 852 6 43968814 43968814 A G exonic C6orf223 NA nonsynonymous SNV C6orf223:NM_001171992:exon2:c.A185G:p.Q62R,C6orf223:NM_153246:exon2:c.A142G:p.K48E exonic ENSG00000181577 NA nonsynonymous SNV ENSG00000181577:ENST00000336600:exon2:c.A142G:p.K48E,ENSG00000181577:ENST00000439969:exon2:c.A185G:p.Q62R NA NA 6p21.1 NA NA NA NA rs2295333 0.2 0.2 0.205 0.195088 0.0696 0.3571 0.0951 0.233 0.1769 0.07 0.39 0.12 0.26 0.1231 0.39 0 D 0.0 B 0.0 B . . 1.000 P 0 N 1.13 T -1.027 T 0.018 T 0.012 0.155 4.835 1.18 0.035 -0.202 3.413 0.155188 NA NA 0.057326 0.210168 NA 0.159 NA 8.0833074 852 6 31733466 31733466 T C exonic VWA7 NA nonsynonymous SNV VWA7:NM_025258:exon17:c.A2581G:p.T861A exonic ENSG00000204396 NA nonsynonymous SNV ENSG00000204396:ENST00000375688:exon17:c.A2581G:p.T861A NA NA 6p21.33 Score=899;Name=V$CEBP_01 NA NA NA rs3101017 0.04 0.04 0.039 0.033746 0.0746 NA 0.0274 0.0567 NA 0.08 NA 0.03 0.06 0.0763 0.099 0.9 T 0.004 B 0.006 B 0.858 U 1.000 N 0.975 L 2.69 T -0.920 T 0.006 T 0.049 1.132 9.614 -0.686 0.096 0.058 4.318 1.131932 NA 0 0.099186 0.064624 NA 0.087 NA 8.0832474 852 15 40916801 40916801 A G exonic CASC5 NA nonsynonymous SNV CASC5:NM_144508:exon10:c.A4339G:p.T1447A,CASC5:NM_170589:exon11:c.A4417G:p.T1473A exonic ENSG00000137812 NA nonsynonymous SNV ENSG00000137812:ENST00000399668:exon10:c.A4339G:p.T1447A,ENSG00000137812:ENST00000346991:exon11:c.A4417G:p.T1473A NA NA 15q15.1 NA NA NA NA rs16970911 0.05 0.05 0.043 0.0309505 0.0934 NA 0.049 0.0023 0.0245 0.1 NA 0.07 0.0041 0.0685 0.1 0.68 T 0.336 B 0.044 B 0.348 N 1.000 N 0.805 L 3.57 T -0.902 T 0.000 T 0.122 -0.448 1.921 1.48 0.056 0.292 8.284 -0.448317 NA 0.42 0.088422 0.019544 NA 0.043 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116572.2;CLNDSDB=.;CLNDSDBID=. 8.0830114 852 15 74336633 74336633 T C exonic PML NA nonsynonymous SNV PML:NM_033238:exon9:c.T1933C:p.F645L exonic ENSG00000140464 NA nonsynonymous SNV ENSG00000140464:ENST00000565898:exon8:c.T1789C:p.F597L,ENSG00000140464:ENST00000268058:exon9:c.T1933C:p.F645L NA Name=Height,Paget's disease 15q24.1 NA NA NA NA rs5742915 0.23 0.23 0.198 0.192292 0.4384 0.004 0.2911 0.0454 0.2618 0.44 0.0035 0.36 0.05 0.3505 0.46 1 T 0.001 B 0.001 B 0.079 U 0.943 P 0 N 1.01 T -0.978 T 0.000 T 0.122 -0.095 3.535 -3.26 -0.543 -0.220 5.601 -0.094924 NA 0.26 0.46195 0.106233 NA 0.341 NA 8.0824834 852 5 13719089 13719089 G A exonic DNAH5 NA nonsynonymous SNV DNAH5:NM_001369:exon72:c.C12401T:p.A4134V exonic ENSG00000039139 NA nonsynonymous SNV ENSG00000039139:ENST00000265104:exon72:c.C12401T:p.A4134V Score=604;Name=lod=381 NA 5p15.2 NA NA NA NA rs30168 0.44 0.44 0.472 0.465455 0.3976 0.4415 0.4265 0.5514 0.4714 0.42 0.41 0.42 0.54 0.429 0.54 1 T 0.0 B 0.001 B 0.001 N 1.000 P -1.535 N 3.16 T -0.969 T 0.000 T 0.03 -1.336 0.031 1.72 -0.174 1.691 3.023 -1.33595 NA 1 0.424884 0.534952 NA 0.471 NA 8.0818494 852 15 55489065 55489065 G A exonic RSL24D1 NA synonymous SNV RSL24D1:NM_016304:exon1:c.C24T:p.F8F exonic ENSG00000137876 NA synonymous SNV ENSG00000137876:ENST00000260443:exon1:c.C24T:p.F8F,ENSG00000137876:ENST00000562993:exon1:c.C24T:p.F8F Score=510;Name=lod=157 NA 15q21.3 Score=853;Name=V$FOXJ2_02 Name=ATF3,ETS1,HEY1,GABP,Pol2-4H8,TAF1,c-Jun,GTF2B,TAF7_(SQ-8),HA-E2F1,FOSL2,Pol2,JunD,GTF2F1_(RAP-74),PU.1,CEBPB,AP-2alpha,Egr-1,TBP,CCNT2,Pol2(b),ELK4,Mxi1_(bHLH),eGFP-JunD,Sin3Ak-20,IRF1,SP1,BATF,c-Myc,Max NA NA rs9300 0.24 0.24 0.255 0.270367 0.1918 0.1379 0.1326 0.5492 0.2086 0.19 0.15 0.13 0.51 0.2043 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.760435 1.760435 NA 0.189539 0.484496 ID=COSM147918;OCCURENCE=1(stomach) 0.225 NA 8.0810276 852 19 14580328 14580328 A G exonic PKN1 NA nonsynonymous SNV PKN1:NM_002741:exon16:c.A2152G:p.I718V,PKN1:NM_213560:exon16:c.A2170G:p.I724V exonic ENSG00000123143 NA nonsynonymous SNV ENSG00000123143:ENST00000591461:exon4:c.A364G:p.I122V,ENSG00000123143:ENST00000242783:exon16:c.A2152G:p.I718V,ENSG00000123143:ENST00000342216:exon16:c.A2170G:p.I724V NA NA 19p13.12 NA NA NA NA rs2230539 0.16 0.16 0.159 0.189497 0.0775 0.1052 0.1657 0.4501 0.0562 0.06 0.12 0.15 0.38 0.1094 0.38 1 T 0.0 B 0.0 B 0.025 N 0.000 P 0.505 N 1.89 T -0.946 T 0.000 T 0.048 -1.986 0.007 -2.14 -0.395 -0.587 8.564 -1.985745 NA 1 0.065833 0.366667 NA 0.203 NA 8.0806004 852 3 46009491 46009491 C T exonic FYCO1 NA synonymous SNV FYCO1:NM_024513:exon8:c.G1335A:p.L445L exonic ENSG00000163820 NA synonymous SNV ENSG00000163820:ENST00000535325:exon7:c.G1335A:p.L445L,ENSG00000163820:ENST00000296137:exon8:c.G1335A:p.L445L Score=300;Name=lod=22 NA 3p21.31 Score=795;Name=V$AHR_01 NA Name=2 NA rs3796376 0.2 0.2 0.182 0.161342 0.2078 0.2927 0.1542 0.0333 0.1564 0.21 0.32 0.19 0.04 0.1829 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.051366 NA NA 0.196047 0.0665 NA 0.13 NA 8.0799196 852 20 47307618 47307618 G A exonic PREX1 NA synonymous SNV PREX1:NM_020820:exon9:c.C1053T:p.N351N exonic ENSG00000124126 NA synonymous SNV ENSG00000124126:ENST00000371941:exon9:c.C1053T:p.N351N,ENSG00000124126:ENST00000396220:exon9:c.C1053T:p.N351N Score=532;Name=lod=194 NA 20q13.13 NA Name=USF-1,c-Myc Name=26 NA rs3746820 0.26 0.26 0.29 0.285144 0.2028 0.0962 0.1816 0.5764 0.2444 0.19 0.1 0.21 0.6 0.2035 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.063762 NA NA 0.180698 0.499092 ID=COSM149193;OCCURENCE=1(stomach) 0.217 NA 8.0796686 852 3 133368362 133368362 T G exonic TOPBP1 NA nonsynonymous SNV TOPBP1:NM_007027:exon10:c.A1369C:p.K457Q exonic ENSG00000163781 NA nonsynonymous SNV ENSG00000163781:ENST00000260810:exon10:c.A1369C:p.K457Q Score=420;Name=lod=68 NA 3q22.1 NA NA NA NA rs3192149 0.71 0.71 0.731 0.695887 0.7724 0.625 0.6398 0.7905 0.6022 0.77 0.64 0.62 0.78 0.7159 0.79 0.71 T 0.0 B 0.0 B 0.045 N 1.000 P -1.59 N 2.75 T -1.029 T 0.000 T 0.023 -0.224 2.916 4.84 0.777 3.153 15.345 -0.224167 NA 0.85 0.766683 0.78645 NA 0.63 NA 8.0783504 852 1 161019040 161019040 G C exonic ARHGAP30 NA nonsynonymous SNV ARHGAP30:NM_001025598:exon12:c.C1771G:p.L591V,ARHGAP30:NM_181720:exon12:c.C1771G:p.L591V exonic ENSG00000186517 NA nonsynonymous SNV ENSG00000186517:ENST00000368015:exon8:c.C1240G:p.L414V,ENSG00000186517:ENST00000368013:exon12:c.C1771G:p.L591V,ENSG00000186517:ENST00000368016:exon12:c.C1771G:p.L591V NA NA 1q23.3 Score=821;Name=V$CMYB_01 NA NA NA rs3813609 0.43 0.43 0.436 0.395966 0.6292 0.3333 0.4654 0.1815 0.4611 0.63 0.33 0.48 0.21 0.5195 0.63 0.67 T 0.763 P 0.288 B 0.937 N 1.000 P 1.845 L 2.92 T -1.032 T 0.026 T 0.074 1.009 9.123 1.1 -0.047 2.269 1.708 1.009373 NA 0.21 0.607209 0.262823 NA 0.457 NA 8.0774244 852 16 77353973 77353973 G T exonic ADAMTS18 NA nonsynonymous SNV ADAMTS18:NM_199355:exon16:c.C2305A:p.L769I exonic ENSG00000140873 NA nonsynonymous SNV ENSG00000140873:ENST00000282849:exon16:c.C2305A:p.L769I NA NA 16q23.1 NA NA NA NA rs9930984 0.62 0.62 0.618 0.634984 0.3648 0.8681 0.6268 0.7731 0.4918 0.37 0.86 0.57 0.75 0.4964 0.86 0.11 T 0.001 B 0.005 B 0.936 N 1.000 P -0.22 N 0.7 T -0.987 T 0.000 T 0.029 -0.942 0.356 2.08 -0.130 2.540 5.857 -0.942285 NA 0.56 0.394767 0.748408 NA 0.5 NA 8.0773664 852 15 65153690 65153690 G A exonic PLEKHO2 NA synonymous SNV PLEKHO2:NM_001195059:exon4:c.G249A:p.K83K,PLEKHO2:NM_025201:exon5:c.G399A:p.K133K exonic ENSG00000241839,ENSG00000249240 NA synonymous SNV ENSG00000241839:ENST00000323544:exon5:c.G399A:p.K133K,ENSG00000249240:ENST00000437723:exon5:c.G399A:p.K133K Score=564;Name=lod=262 Name=Coronary heart disease 15q22.31 Score=819;Name=V$FREAC2_01 NA NA NA rs12595292 0.32 0.32 0.295 0.280351 0.1451 0.747 0.2925 0.1082 0.1626 0.15 0.77 0.27 0.09 0.295 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 1.284224 1.284224 NA 0.149453 0.116523 NA 0.159 NA 8.0771136 852 3 46007825 46007825 T C exonic FYCO1 NA nonsynonymous SNV FYCO1:NM_024513:exon8:c.A3001G:p.N1001D exonic ENSG00000163820 NA nonsynonymous SNV ENSG00000163820:ENST00000535325:exon7:c.A3001G:p.N1001D,ENSG00000163820:ENST00000296137:exon8:c.A3001G:p.N1001D NA NA 3p21.31 NA NA NA NA rs13059238 0.06 0.06 0.008 0.109425 0.1233 0.004 0.0634 0.0189 0.3589 0.14 NA 0.06 0.02 0.1289 0.14 0.88 T 0.0 B 0.0 B 0.030 N 1.000 P -0.46 N -1.28 T -1.093 T 0.002 T 0.011 -0.928 0.383 2.29 0.260 0.889 4.077 -0.927848 NA 1 0.00407 0.009079 NA 0.007 NA 8.0770634 853 1 43649508 43649508 A G exonic WDR65 NA nonsynonymous SNV WDR65:NM_001167965:exon4:c.A721G:p.N241D,WDR65:NM_001195831:exon4:c.A721G:p.N241D,WDR65:NM_152498:exon4:c.A721G:p.N241D exonic ENSG00000243710 NA nonsynonymous SNV ENSG00000243710:ENST00000372492:exon4:c.A721G:p.N241D,ENSG00000243710:ENST00000528956:exon4:c.A721G:p.N241D NA NA 1p34.2 NA NA NA NA rs663824 0.5 0.5 0.49 0.520168 0.4135 0.3194 0.5101 0.8434 0.407 0.44 0.3 0.51 0.84 0.4499 0.84 0.64 T 0.0 B 0.001 B 0.268 N 1.000 P 0 N 3.31 T -1.047 T 0.000 T 0.058 0.2 5.079 -3.6 -1.005 0.639 2.883 0.200278 NA NA 0.395 0.757603 NA 0.638 NA 8.0749334 853 7 45005795 45005795 G A exonic MYO1G NA synonymous SNV MYO1G:NM_033054:exon16:c.C2034T:p.H678H exonic ENSG00000136286 NA synonymous SNV ENSG00000136286:ENST00000258787:exon16:c.C2034T:p.H678H Score=397;Name=lod=55 NA 7p13 NA Name=Pol2,ERalpha_a Name=5 NA rs2269969 0.14 0.14 0.13 0.110823 0.2197 0.0942 0.1671 0.0461 0.0634 0.23 0.09 0.18 0.05 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 0.889701 NA NA 0.200116 0.070359 NA 0.094 NA 8.0740506 853 11 62521475 62521475 T C exonic ZBTB3 NA synonymous SNV ZBTB3:NM_024784:exon1:c.A60G:p.R20R exonic ENSG00000185670 NA synonymous SNV ENSG00000185670:ENST00000394807:exon1:c.A60G:p.R20R NA NA 11q12.3 Score=883;Name=V$E2F_02 Name=Sin3Ak-20,Max,ELK4,TBP,Ini1,Pol2,Pol2(phosphoS2),ELF1_(SC-631),HEY1,TAF1,NFKB,EBF1_(C-8),GABP,Pol2-4H8 Name=140 NA rs72929471 0.15 0.15 0.145 0.13778 0.1938 0.0853 0.1556 0.0968 0.1769 0.2 0.09 0.19 0.13 0.1791 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.497011 NA NA 0.221098 0.121253 NA 0.225 NA 8.0726686 853 6 31477681 31477681 A G exonic MICB NA nonsynonymous SNV MICB:NM_005931:exon6:c.A1147G:p.T383A exonic ENSG00000204516 NA nonsynonymous SNV ENSG00000204516:ENST00000252229:exon6:c.A1147G:p.T383A,ENSG00000204516:ENST00000399150:exon6:c.A1018G:p.T340A,ENSG00000204516:ENST00000538442:exon6:c.A1051G:p.T351A NA NA 6p21.33 NA Name=HA-E2F1 NA NA rs1065076 0.8 0.8 0.812 0.804912 0.7266 0.875 0.8184 0.823 0.7791 0.71 0.86 0.82 0.83 0.7817 0.86 0 D 0.0 B 0.0 B . . 1.000 P -0.69 N 5.76 T -0.968 T 0.000 T 0.01 0.833 8.36 -1.2 -0.983 -0.730 2.480 0.832828 NA 0 0.753702 0.832672 NA 0.797 NA 8.0713314 853 X 103267865 103267865 C T exonic H2BFWT NA nonsynonymous SNV H2BFWT:NM_001002916:exon1:c.G368A:p.R123H exonic ENSG00000123569 NA nonsynonymous SNV ENSG00000123569:ENST00000217926:exon1:c.G368A:p.R123H NA NA Xq22.2 NA NA NA NA rs553509 0.58 0.58 0.59936 NA NA NA NA NA NA 0.67 0.59 0.48 0.53 0.5977 0.67 0.03 D 0.016 B 0.017 B 0.780 U 1.000 P 1.365 L 1.64 T -0.935 T 0.000 T 0.057 1.183 9.81 -2.67 -0.944 0.783 3.36 1.18283 NA 0.15 0.665378 0.588787 NA 0.384 NA 8.0702554 853 11 102709425 102709425 A G exonic MMP3 NA synonymous SNV MMP3:NM_002422:exon8:c.T1086C:p.A362A exonic ENSG00000149968 NA synonymous SNV ENSG00000149968:ENST00000299855:exon8:c.T1086C:p.A362A Score=449;Name=lod=89 NA 11q22.2 NA NA NA NA rs520540 0.6 0.6 0.58 0.622404 0.5298 0.6706 0.6643 0.5598 0.7229 0.54 0.68 0.62 0.58 0.5669 0.68 . . . . . . . . 0.000 P . . . . -0.966 T 0.000 T . 0.807 8.24 2.15 0.394 1.162 6.709 0.806639 NA NA 0.499884 0.542215 NA 0.507 NA 8.0700826 853 19 7528734 7528734 A G exonic ARHGEF18 NA nonsynonymous SNV ARHGEF18:NM_001130955:exon12:c.A2102G:p.Q701R,ARHGEF18:NM_015318:exon13:c.A1628G:p.Q543R exonic ENSG00000104880,ENSG00000268861 NA nonsynonymous SNV ENSG00000104880:ENST00000359920:exon12:c.A2102G:p.Q701R,ENSG00000104880:ENST00000319670:exon13:c.A1628G:p.Q543R NA NA 19p13.2 Score=919;Name=V$AREB6_03 NA NA NA rs2287918 0.81 0.81 0.821 0.832468 0.7425 0.8333 0.7637 0.9531 0.8098 0.74 0.84 0.73 0.95 0.7741 0.95 0.71 T 0.0 B 0.001 B 0.720 N 1.000 P 0.665 N 2.21 T -1.021 T 0.000 T 0.015 -0.916 0.405 -6.09 -1.310 -0.215 11.421 -0.916493 NA 0.63 0.746968 0.930068 NA 0.819 NA 8.0697654 853 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$CDPCR3_01 NA NA NA rs8192917 0.71 0.71 0.685 0.680711 0.7525 0.7133 0.781 0.5605 0.6646 0.75 0.76 0.77 0.58 0.7476 0.77 0.32 T 0.344 B 0.027 B 0.588 N 1.000 P -0.02 N 1.57 T -0.938 T 0.000 T 0.137 2.78 15.26 -1.15 -0.100 -1.293 8.534 2.780393 2.780393 0.33 0.763605 0.595098 NA 0.703 NA 8.0696284 853 1 202092332 202092332 C G exonic GPR37L1 NA nonsynonymous SNV GPR37L1:NM_004767:exon1:c.C241G:p.P81A exonic ENSG00000170075 NA nonsynonymous SNV ENSG00000170075:ENST00000367282:exon1:c.C241G:p.P81A NA NA 1q32.1 NA NA NA NA rs3795594 0.24 0.24 0.223 0.223243 0.0606 0.3423 0.2579 0.3094 0.1268 0.06 0.4 0.25 0.31 0.1421 0.4 0.08 T 0.0 B 0.0 B 0.931 N 1.000 P 0.895 L -1.22 T -1.030 T 0.000 T 0.037 1.371 10.51 -0.693 0.123 -0.977 3.917 1.370807 1.370807 0.11 0.061628 0.279165 NA 0.174 NA 8.0690054 853 10 94822686 94822686 C T exonic CYP26C1 NA synonymous SNV CYP26C1:NM_183374:exon3:c.C639T:p.T213T exonic ENSG00000187553 NA synonymous SNV ENSG00000187553:ENST00000285949:exon3:c.C639T:p.T213T Score=611;Name=lod=406 NA 10q23.33 Score=782;Name=V$PAX5_02 Name=ELF1_(SC-631),CTCF,SUZ12 Name=94 NA rs55843714 0.31 0.31 0.291 0.282348 0.5577 0.0833 0.3919 0.1097 0.3599 0.56 0.09 0.42 0.1 0.4687 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.448261 1.448261 NA 0.572516 0.180524 NA 0.123 NA 8.0677506 853 14 102446161 102446161 G A exonic DYNC1H1 NA synonymous SNV DYNC1H1:NM_001376:exon4:c.G624A:p.P208P exonic ENSG00000197102 NA synonymous SNV ENSG00000197102:ENST00000360184:exon4:c.G624A:p.P208P Score=475;Name=lod=114 NA 14q32.31 NA NA Name=18 NA rs3818188 0.24 0.24 0.232 0.208466 0.1958 0.4405 0.3357 0.0242 0.1411 0.19 0.46 0.32 0.02 0.2122 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.041753 NA NA 0.19093 0.049478 NA 0.116 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116919.1|RCV000124851.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.0677366 853 9 139726239 139726239 A G exonic RABL6 NA synonymous SNV RABL6:NM_001173988:exon6:c.A525G:p.G175G,RABL6:NM_001173989:exon6:c.A525G:p.G175G,RABL6:NM_024718:exon6:c.A525G:p.G175G exonic ENSG00000196642 NA synonymous SNV ENSG00000196642:ENST00000311502:exon6:c.A525G:p.G175G,ENSG00000196642:ENST00000357466:exon6:c.A525G:p.G175G,ENSG00000196642:ENST00000371663:exon6:c.A525G:p.G175G,ENSG00000196642:ENST00000371671:exon6:c.A525G:p.G175G,ENSG00000196642:ENST00000371675:exon6:c.A180G:p.G60G,ENSG00000196642:ENST00000432842:exon6:c.A411G:p.G137G,ENSG00000196642:ENST00000464941:exon6:c.A411G:p.G137G,ENSG00000196642:ENST00000484471:exon6:c.A525G:p.G175G Score=501;Name=lod=145 NA 9q34.3 Score=763;Name=V$STAT1_01 Name=BCL3 NA NA rs2811748 0.82 0.82 0.839 0.816693 0.8877 0.755 0.732 0.8744 0.7894 0.91 0.73 0.75 0.85 0.8475 0.91 . . . . . . . . 0.000 P . . . . -1.029 T 0.000 T . 1.208 9.904 -0.567 -0.270 -1.131 7.903 1.207788 NA NA 0.864068 0.889657 NA 0.797 NA 8.0673986 853 4 41015899 41015899 C T exonic APBB2 NA nonsynonymous SNV APBB2:NM_001166050:exon6:c.G536A:p.R179Q,APBB2:NM_004307:exon6:c.G536A:p.R179Q,APBB2:NM_173075:exon6:c.G536A:p.R179Q exonic ENSG00000163697 NA nonsynonymous SNV ENSG00000163697:ENST00000295974:exon6:c.G536A:p.R179Q,ENSG00000163697:ENST00000506352:exon6:c.G536A:p.R179Q,ENSG00000163697:ENST00000508593:exon6:c.G536A:p.R179Q,ENSG00000163697:ENST00000513140:exon6:c.G536A:p.R179Q NA NA 4p14 NA Name=CTCF Name=5 NA rs4861358 0.69 0.69 0.649 0.674121 0.7505 0.8978 0.7262 0.3222 0.8037 0.76 0.91 0.72 0.32 0.7487 0.91 0.65 T 0.006 B 0.0 B 0.390 N 1.000 P 0.345 N 1.96 T -1.023 T 0.000 T 0.245 -1.02 0.232 -2.0 -0.155 0.384 2.854 -1.020406 NA 0.36 0.766885 0.400363 NA 0.587 NA 8.0672484 853 9 138440641 138440641 T C exonic OBP2A NA nonsynonymous SNV OBP2A:NM_014582:exon5:c.T476C:p.M159T exonic ENSG00000122136 NA nonsynonymous SNV ENSG00000122136:ENST00000342114:exon4:c.T407C:p.M136T,ENSG00000122136:ENST00000340780:exon5:c.T541C:p.C181R,ENSG00000122136:ENST00000371776:exon5:c.T476C:p.M159T,ENSG00000122136:ENST00000539850:exon5:c.T476C:p.M159T NA NA 9q34.3 NA NA NA NA rs2853652 0.84 0.84 0.793 0.842652 0.7445 0.9901 0.8631 0.8177 0.8108 0.73 0.99 0.85 0.85 0.7778 0.99 1 T 0.0 B 0.0 B 0.260 N 1.000 P -0.2 N 1.44 T -1.058 T 0.000 T . -2.192 0.005 -4.77 -1.501 -1.869 4.198 -2.191828 NA 0.02 0.744359 0.815706 NA 0.688 NA 8.0666744 853 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 853 X 79698593 79698593 C G exonic FAM46D NA nonsynonymous SNV FAM46D:NM_152630:exon3:c.C555G:p.D185E,FAM46D:NM_001170574:exon5:c.C555G:p.D185E exonic ENSG00000174016 NA nonsynonymous SNV ENSG00000174016:ENST00000308293:exon3:c.C555G:p.D185E,ENSG00000174016:ENST00000538312:exon5:c.C555G:p.D185E NA NA Xq21.1 NA NA NA NA rs1113265 0.43 0.43 0.4062 NA NA NA NA NA NA 0.68 0.07 0.58 0.32 0.5574 0.71 1 T 0.001 B 0.003 B 0.007 N 1.000 P 0.975 L 2.03 T -0.928 T 0.000 T 0.027 -1.925 0.008 -8.75 -2.291 -0.369 3.188 -1.924635 NA 1 0.709888 0.391441 NA 0.275 NA 8.0660454 853 19 7533850 7533850 A G exonic ARHGEF18 NA nonsynonymous SNV ARHGEF18:NM_001130955:exon17:c.A3056G:p.N1019S,ARHGEF18:NM_015318:exon18:c.A2582G:p.N861S exonic ENSG00000104880,ENSG00000268861 NA nonsynonymous SNV ENSG00000104880:ENST00000359920:exon17:c.A3056G:p.N1019S,ENSG00000104880:ENST00000319670:exon18:c.A2582G:p.N861S Score=636;Name=lod=513 NA 19p13.2 Score=782;Name=V$MYOGNF1_01 NA NA NA rs9329368 0.81 0.81 0.802 0.834265 0.7445 0.8433 0.7608 0.9523 0.8098 0.74 0.85 0.72 0.95 0.77 0.95 0.83 T 0.0 B 0.0 B 0.924 N 1.000 P -0.755 N 1.66 T -0.997 T 0.000 T 0.003 -1.635 0.013 3.16 0.252 0.158 3.027 -1.634801 NA 1 0.752934 0.92867 ID=COSM440621,COSM440622;OCCURENCE=1(breast) 0.841 NA 8.0658994 854 2 169952233 169952233 T C exonic DHRS9 NA synonymous SNV DHRS9:NM_001142271:exon5:c.T916C:p.L306L,DHRS9:NM_001142270:exon6:c.T916C:p.L306L,DHRS9:NM_199204:exon6:c.T916C:p.L306L,DHRS9:NM_005771:exon8:c.T916C:p.L306L exonic ENSG00000073737 NA synonymous SNV ENSG00000073737:ENST00000412271:exon5:c.T916C:p.L306L,ENSG00000073737:ENST00000421653:exon5:c.T475C:p.L159L,ENSG00000073737:ENST00000432060:exon5:c.T1096C:p.L366L,ENSG00000073737:ENST00000357546:exon6:c.T916C:p.L306L,ENSG00000073737:ENST00000428522:exon6:c.T916C:p.L306L,ENSG00000073737:ENST00000436483:exon6:c.T916C:p.L306L,ENSG00000073737:ENST00000327239:exon8:c.T916C:p.L306L,ENSG00000073737:ENST00000602501:exon8:c.T916C:p.L306L Score=571;Name=lod=278 NA 2q31.1 NA Name=TBP,CCNT2,AP-2gamma,eGFP-FOS,c-Fos,CEBPB,AP-2alpha,eGFP-GATA2,JunD,TAL1_(SC-12984),p300_(N-15),IRF1,Rad21,eGFP-JunD,FOSL1_(SC-183),STAT3,c-Jun,eGFP-JunB,PRDM1_(Val90),GATA-2,p300,HDAC2_(SC-6296),MafK_(ab50322) Name=113 NA rs1059261 0.28 0.28 0.262 0.27476 0.1799 0.3214 0.2522 0.4221 0.1411 0.19 0.3 0.27 0.4 0.2214 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.356634 1.356634 NA 0.20093 0.367227 NA 0.203 NA 8.0644366 854 3 129155670 129155670 C T exonic MBD4 NA nonsynonymous SNV MBD4:NM_001276270:exon3:c.G817A:p.A273T,MBD4:NM_001276271:exon3:c.G817A:p.A273T,MBD4:NM_001276272:exon3:c.G817A:p.A273T,MBD4:NM_003925:exon3:c.G817A:p.A273T exonic ENSG00000129071 NA nonsynonymous SNV ENSG00000129071:ENST00000249910:exon3:c.G817A:p.A273T,ENSG00000129071:ENST00000429544:exon3:c.G817A:p.A273T,ENSG00000129071:ENST00000503197:exon3:c.G817A:p.A273T,ENSG00000129071:ENST00000507208:exon3:c.G817A:p.A273T NA NA 3q21.3 NA NA NA NA rs10342 0.08 0.08 0.066 0.0820687 0.0994 0.0714 0.0692 0.0628 0.1104 0.08 0.07 0.08 0.06 0.0811 0.098 0.55 T 0.041 B 0.016 B 0.354 N 1.000 P 0.255 N -3.05 D -0.718 T 0.046 T 0.023 1.642 11.45 -0.944 0.049 0.217 1.921 1.641688 1.641688 0.24 0.088488 0.066727 NA 0.239 NA 8.0643454 854 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 854 X 77913569 77913569 G A exonic ZCCHC5 NA nonsynonymous SNV ZCCHC5:NM_152694:exon2:c.C349T:p.P117S exonic ENSG00000179300 NA nonsynonymous SNV ENSG00000179300:ENST00000321110:exon2:c.C349T:p.P117S NA NA Xq21.1 Score=786;Name=V$AHR_01 NA NA NA rs4077512 0.09 0.09 0.10254 NA NA NA NA NA NA 0.13 0.01 0.09 0.12 0.1165 0.16 0.18 T 0.028 B 0.004 B . . 1.000 P -0.55 N 2.25 T -0.955 T 0.000 T 0.015 0.413 6.245 -1.08 -0.426 -0.570 4.312 0.413282 NA 0.47 0.152736 0.156193 NA 0.051 NA 8.0640974 854 16 84879464 84879464 A G exonic CRISPLD2 NA nonsynonymous SNV CRISPLD2:NM_031476:exon3:c.A313G:p.S105G exonic ENSG00000103196 NA nonsynonymous SNV ENSG00000103196:ENST00000262424:exon3:c.A313G:p.S105G,ENSG00000103196:ENST00000564567:exon3:c.A313G:p.S105G,ENSG00000103196:ENST00000567845:exon3:c.A313G:p.S105G,ENSG00000103196:ENST00000569090:exon3:c.A313G:p.S105G NA NA 16q24.1 NA NA NA NA rs12051468 0.34 0.34 0.318 0.373403 0.4443 0.1925 0.3501 0.4123 0.4509 0.43 0.16 0.36 0.4 0.3981 0.43 0.56 T 0.003 B 0.011 B 0.617 N 1.000 P 0.375 N 2.91 T -0.915 T 0.000 T 0.013 -0.869 0.506 -5.79 -1.629 0.257 3.983 -0.868859 NA 0.48 0.427326 0.400182 NA 0.37 NA 8.0636074 854 1 89847444 89847444 A G exonic GBP6 NA nonsynonymous SNV GBP6:NM_198460:exon7:c.A1063G:p.M355V exonic ENSG00000183347 NA nonsynonymous SNV ENSG00000183347:ENST00000535065:exon5:c.A673G:p.M225V,ENSG00000183347:ENST00000370456:exon7:c.A1063G:p.M355V NA NA 1p22.2 NA Name=CTCF NA NA rs4658146 0.79 0.79 0.774 0.80651 0.7485 0.7252 0.8429 0.91 0.7843 0.74 0.74 0.83 0.91 0.7771 0.91 0.94 T 0.0 B 0.0 B 0.390 N 1.000 P -2.215 N 4.67 T -1.015 T 0.000 T 0.016 -2.441 0.003 -4.25 -0.835 -2.447 3.178 -2.440817 NA 0.84 0.745465 0.880163 NA 0.659 NA 8.0622684 854 12 9086898 9086898 A G exonic PHC1 NA nonsynonymous SNV PHC1:NM_004426:exon10:c.A2077G:p.T693A exonic ENSG00000111752 NA nonsynonymous SNV ENSG00000111752:ENST00000433083:exon9:c.A1942G:p.T648A,ENSG00000111752:ENST00000544916:exon10:c.A2077G:p.T693A,ENSG00000111752:ENST00000536844:exon11:c.A895G:p.T299A,ENSG00000111752:ENST00000543824:exon11:c.A2077G:p.T693A NA NA 12p13.31 Score=852;Name=V$OCT1_07 Name=CEBPB,FOXA1_(SC-101058),FOXA1_(C-20) NA NA rs1049925 0.37 0.37 0.34 0.353435 0.4274 0.4107 0.3818 0.1551 0.4663 0.43 0.47 0.37 0.14 0.4013 0.47 0.35 T 0.0 B 0.0 B 0.021 N 1.000 P 0 N 1.99 T -0.908 T 0.000 T 0.154 0.828 8.336 0.937 -0.009 -0.529 3.352 0.827685 NA 0.26 0.442558 0.197004 NA 0.464 NA 8.0620754 854 3 45077123 45077123 G A exonic CLEC3B NA nonsynonymous SNV CLEC3B:NM_003278:exon3:c.G316A:p.G106S exonic ENSG00000163815 NA nonsynonymous SNV ENSG00000163815:ENST00000296130:exon3:c.G316A:p.G106S,ENSG00000163815:ENST00000428034:exon3:c.G190A:p.G64S Score=570;Name=lod=276 NA 3p21.31 NA NA NA NA rs13963 0.54 0.54 0.516 0.563498 0.3817 0.8591 0.5144 0.4002 0.7014 0.4 0.87 0.49 0.4 0.4854 0.87 0.32 T 0.099 B 0.101 B 0.002 N 0.000 P -0.385 N 2.23 T -1.081 T 0.000 T 0.064 1.077 9.397 -0.054 0.121 1.497 8.708 1.076946 NA 0.55 0.405116 0.387653 NA 0.558 NA 8.0611174 854 14 93276654 93276654 T C exonic GOLGA5 NA nonsynonymous SNV GOLGA5:NM_005113:exon5:c.T1048C:p.F350L exonic ENSG00000066455 NA nonsynonymous SNV ENSG00000066455:ENST00000163416:exon5:c.T1048C:p.F350L,ENSG00000066455:ENST00000355976:exon5:c.T1048C:p.F350L Score=431;Name=lod=75 NA 14q32.12 NA NA NA NA rs1040835 0.82 0.82 0.8 0.859625 0.7465 0.8323 0.8602 0.9697 0.8548 0.72 0.81 0.83 0.97 0.7999 0.97 1 T 0.0 B 0.0 B 0.001 N 1.000 P -2.045 N 2.73 T -0.989 T 0.000 T 0.068 0.418 6.273 4.75 0.870 1.657 7.426 0.41843 NA 1 0.726279 0.932819 NA 0.819 NA 8.0606544 854 12 122623000 122623000 T C exonic MLXIP NA synonymous SNV MLXIP:NM_014938:exon14:c.T2286C:p.T762T exonic ENSG00000175727 NA synonymous SNV ENSG00000175727:ENST00000366272:exon5:c.T699C:p.T233T,ENSG00000175727:ENST00000538698:exon6:c.T1107C:p.T369T,ENSG00000175727:ENST00000319080:exon14:c.T2286C:p.T762T NA NA 12q24.31 NA NA NA NA rs4758686 0.54 0.54 0.51 0.545927 0.5596 0.4931 0.6081 0.5454 0.5429 0.56 0.51 0.57 0.52 0.5328 0.59 . . . . . . . . 0.000 P . . . . -0.965 T 0.000 T . 1.063 9.339 -9.09 -1.934 -2.579 4.087 1.062615 NA NA 0.513788 0.543807 NA 0.536 NA 8.0604786 854 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=CTCF,CTCF_(SC-5916),CTCF_(C-20),Rad21,NRSF 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 854 6 31129310 31129310 C T exonic TCF19 NA nonsynonymous SNV TCF19:NM_001077511:exon3:c.C325T:p.P109S,TCF19:NM_007109:exon3:c.C325T:p.P109S exonic ENSG00000137310 NA nonsynonymous SNV ENSG00000137310:ENST00000542218:exon1:c.C85T:p.P29S,ENSG00000137310:ENST00000376255:exon3:c.C325T:p.P109S,ENSG00000137310:ENST00000376257:exon3:c.C325T:p.P109S NA NA 6p21.33 NA Name=Pol2 NA NA rs7750641 0.04 0.04 0.038 0.023762 0.0855 NA 0.0303 0.0091 NA 0.09 NA 0.03 0.01 0.0713 0.12 0.23 T 0.001 B 0.001 B 0.360 N 1.000 N 1.78 L 2.05 T -0.979 T 0.015 T 0.06 1.554 11.15 -1.19 -0.211 -0.156 4.314 1.554187 1.554187 0.49 0.118117 0.029055 ID=COSM1443234;OCCURENCE=1(large_intestine) 0.101 NA 8.0584164 854 6 44223010 44223010 G T exonic SLC35B2 NA synonymous SNV SLC35B2:NM_178148:exon4:c.C732A:p.T244T exonic ENSG00000157593 NA synonymous SNV ENSG00000157593:ENST00000537814:exon2:c.C333A:p.T111T,ENSG00000157593:ENST00000538577:exon3:c.C453A:p.T151T,ENSG00000157593:ENST00000393812:exon4:c.C732A:p.T244T Score=559;Name=lod=250 NA 6p21.1 NA Name=Pol2(b),RXRA,NRSF,BCL3,Pol2-4H8,Pol2 Name=57 NA rs1875324 0.21 0.21 0.189 0.202077 0.1958 0.3899 0.1945 0.0076 0.2832 0.19 0.42 0.21 0.01 0.2153 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.900703 NA NA 0.197209 0.038584 NA 0.333 NA 8.0583576 854 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 854 17 3947644 3947644 T C exonic ZZEF1 NA nonsynonymous SNV ZZEF1:NM_015113:exon38:c.A6040G:p.I2014V exonic ENSG00000074755 NA nonsynonymous SNV ENSG00000074755:ENST00000381638:exon38:c.A6040G:p.I2014V NA NA 17p13.2 NA NA NA NA rs781831 0.51 0.51 0.544 0.520168 0.4185 0.3482 0.5331 0.8192 0.3885 0.41 0.36 0.54 0.82 0.4518 0.82 0.57 T 0.0 B 0.0 B 0.384 N 1.000 P -0.55 N 2.17 T -1.038 T 0.000 T 0.057 0.606 7.263 -2.65 -0.777 -1.644 10.601 0.605678 NA 0.21 0.406512 0.770086 NA 0.543 NA 8.0565214 855 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 855 2 86683642 86683642 A G exonic KDM3A NA nonsynonymous SNV KDM3A:NM_001146688:exon6:c.A634G:p.I212V,KDM3A:NM_018433:exon6:c.A634G:p.I212V exonic ENSG00000115548 NA nonsynonymous SNV ENSG00000115548:ENST00000542128:exon4:c.A478G:p.I160V,ENSG00000115548:ENST00000312912:exon6:c.A634G:p.I212V,ENSG00000115548:ENST00000409064:exon6:c.A634G:p.I212V,ENSG00000115548:ENST00000441719:exon6:c.A634G:p.I212V,ENSG00000115548:ENST00000409556:exon7:c.A634G:p.I212V Score=369;Name=lod=42 NA 2p11.2 NA NA NA NA rs2030259 0.85 0.85 0.875 0.804912 0.7594 0.9425 0.7608 0.9297 0.5726 0.78 0.96 0.72 0.93 0.7664 0.96 0.86 T 0.0 B 0.0 B 0.012 N 1.000 P -1.845 N 0.5 T -0.975 T 0.000 T 0.049 0.474 6.571 3.51 0.246 1.846 7.664 0.473741 NA 0.95 0.753023 0.896959 NA 0.833 NA 8.0545104 855 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 855 1 154965113 154965113 G T intronic FLAD1 NA NA NA exonic ENSG00000160688 NA nonsynonymous SNV ENSG00000160688:ENST00000295530:exon3:c.G488T:p.G163V,ENSG00000160688:ENST00000405236:exon3:c.G992T:p.G331V NA NA 1q21.3 NA NA NA NA rs7535144 0.09 0.09 0.098 0.101038 0.0239 0.002 0.0403 0.3011 0.0552 0.03 0.0017 0.06 0.32 0.0546 0.32 0 D 0.001 B 0.003 B . . 1.000 P . . . . -0.994 T 0.024 T 0.112 1.917 12.37 -2.57 -0.083 -0.143 1.353 1.917313 1.917313 0 0.034154 0.259132 NA 0.123 NA 8.0540127 855 7 73097654 73097654 C T exonic DNAJC30 NA nonsynonymous SNV DNAJC30:NM_032317:exon1:c.G100A:p.G34R exonic ENSG00000176410 NA nonsynonymous SNV ENSG00000176410:ENST00000395176:exon1:c.G100A:p.G34R NA NA 7q11.23 NA Name=TBP,YY1,GTF2F1_(RAP-74),YY1_(C-20),Sin3Ak-20,FOXA1_(C-20),Pol2 Name=13 NA rs1128349 0.34 0.34 0.324 0.302716 0.4463 0.3204 0.268 0.1967 0.3047 0.45 0.35 0.3 0.21 0.3857 0.45 0.59 T 0.0 B 0.001 B 0.278 N 1.000 P -0.205 N 0.4 T -0.972 T 0.000 T 0.042 1.464 10.84 -1.84 -0.483 -0.498 1.673 1.464115 1.464115 0.48 0.447516 0.210538 NA 0.333 NA 8.0538174 855 7 6456347 6456347 G T exonic DAGLB NA synonymous SNV DAGLB:NM_001142936:exon9:c.C951A:p.G317G,DAGLB:NM_139179:exon11:c.C1338A:p.G446G exonic ENSG00000164535 NA synonymous SNV ENSG00000164535:ENST00000421761:exon8:c.C570A:p.G190G,ENSG00000164535:ENST00000425398:exon9:c.C951A:p.G317G,ENSG00000164535:ENST00000428902:exon10:c.C957A:p.G319G,ENSG00000164535:ENST00000297056:exon11:c.C1338A:p.G446G,ENSG00000164535:ENST00000436575:exon11:c.C1215A:p.G405G NA NA 7p22.1 Score=787;Name=V$HEN1_02 Name=CTCF,USF-1,Pol2,USF2,CTCF_(SC-5916) Name=50 NA rs1055428 0.17 0.17 0.139 0.151957 0.2097 0.245 0.1744 0.0348 0.1391 0.21 0.2 0.19 0.04 0.1874 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.202376 NA NA 0.216279 0.074898 NA 0.065 NA 8.0532876 855 22 44322922 44322922 T G exonic PNPLA3 NA nonsynonymous SNV PNPLA3:NM_025225:exon2:c.T295G:p.C99G exonic ENSG00000100344 NA nonsynonymous SNV ENSG00000100344:ENST00000216180:exon2:c.T295G:p.C99G,ENSG00000100344:ENST00000406117:exon2:c.T290G:p.L97R,ENSG00000100344:ENST00000423180:exon2:c.T283G:p.C95G NA NA 22q13.31 NA NA NA NA rs2076213 0.08 0.08 0.058 0.0722843 0.0855 0.0268 0.1628 0.0393 0.0859 0.09 0.03 0.17 0.04 0.0976 0.17 0.34 T 0.0 B 0.0 B 0.251 N 1.000 P -1.04 N -0.99 T -1.105 T 0.000 T 0.059 0.664 7.556 -2.13 0.008 -0.512 0.650 0.663724 NA 0.33 0.097442 0.046074 NA 0.101 NA 8.0527914 855 19 17008578 17008578 G C exonic CPAMD8 NA synonymous SNV CPAMD8:NM_015692:exon39:c.C5130G:p.T1710T exonic ENSG00000160111 NA synonymous SNV ENSG00000160111:ENST00000599287:exon3:c.C216G:p.T72T,ENSG00000160111:ENST00000443236:exon39:c.C5130G:p.T1710T Score=565;Name=lod=263 NA 19p13.11 NA Name=E2F6,E2F6_(H-50),HEY1,HMGN3,EBF,CCNT2 Name=8 NA rs2608732 0.53 0.53 0.499 0.564896 0.5368 0.3016 0.5879 0.8064 0.5225 0.51 0.29 0.6 0.77 0.5439 0.77 . . . . . . . . 0.000 P . . . . -1.019 T 0.000 T . 0.709 7.778 0.431 -0.071 -0.200 3.473 0.7088 NA NA 0.533511 0.761145 ID=COSM438855;OCCURENCE=3(breast) 0.507 NA 8.0524556 855 12 2558186 2558186 G A exonic CACNA1C NA synonymous SNV CACNA1C:NM_000719:exon4:c.G522A:p.A174A,CACNA1C:NM_001129827:exon4:c.G522A:p.A174A,CACNA1C:NM_001129829:exon4:c.G522A:p.A174A,CACNA1C:NM_001129830:exon4:c.G522A:p.A174A,CACNA1C:NM_001129831:exon4:c.G522A:p.A174A,CACNA1C:NM_001129832:exon4:c.G522A:p.A174A,CACNA1C:NM_001129833:exon4:c.G522A:p.A174A,CACNA1C:NM_001129834:exon4:c.G522A:p.A174A,CACNA1C:NM_001129835:exon4:c.G522A:p.A174A,CACNA1C:NM_001129836:exon4:c.G522A:p.A174A,CACNA1C:NM_001129837:exon4:c.G522A:p.A174A,CACNA1C:NM_001129838:exon4:c.G522A:p.A174A,CACNA1C:NM_001129839:exon4:c.G522A:p.A174A,CACNA1C:NM_001129840:exon4:c.G522A:p.A174A,CACNA1C:NM_001129841:exon4:c.G522A:p.A174A,CACNA1C:NM_001129842:exon4:c.G522A:p.A174A,CACNA1C:NM_001129843:exon4:c.G522A:p.A174A,CACNA1C:NM_001129844:exon4:c.G522A:p.A174A,CACNA1C:NM_001129846:exon4:c.G522A:p.A174A,CACNA1C:NM_001167623:exon4:c.G522A:p.A174A,CACNA1C:NM_001167624:exon4:c.G522A:p.A174A,CACNA1C:NM_001167625:exon4:c.G522A:p.A174A,CACNA1C:NM_199460:exon4:c.G522A:p.A174A exonic ENSG00000151067 NA synonymous SNV ENSG00000151067:ENST00000327702:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000335762:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000344100:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000347598:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399591:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399595:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399597:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399601:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399603:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399606:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399617:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399621:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399629:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399634:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399637:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399638:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399641:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399644:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399649:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000399655:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000402845:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000406454:exon4:c.G522A:p.A174A,ENSG00000151067:ENST00000480911:exon4:c.G522A:p.A174A Score=679;Name=lod=768 NA 12p13.33 NA NA NA Score=114;Name=492883_0_+_114 rs1544514 0.13 0.13 0.136 0.120407 0.1928 0.0655 0.147 0.0756 0.1442 0.19 0.08 0.16 0.08 0.2074 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.333541 1.333541 NA 0.214601 0.089071 NA 0.094 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000079297.1|RCV000124065.1;CLNDSDB=.|.;CLNDSDBID=.|. 8.0518656 855 8 21956108 21956108 A G exonic FAM160B2 NA nonsynonymous SNV FAM160B2:NM_022749:exon7:c.A943G:p.T315A exonic ENSG00000158863 NA nonsynonymous SNV ENSG00000158863:ENST00000289921:exon7:c.A943G:p.T315A,ENSG00000158863:ENST00000450006:exon7:c.A943G:p.T315A NA NA 8p21.3 NA NA NA NA rs35497596 0.37 0.37 0.373 0.378395 0.4026 0.377 0.2723 0.3729 0.4376 0.39 0.39 0.29 0.35 0.4608 0.42 0.34 T 0.001 B 0.013 B 0.495 N 1.000 P 0.895 L 0.01 T -0.994 T 0.000 T 0.006 1.456 10.81 -6.05 -1.577 -0.607 10.622 1.45557 1.45557 0.16 0.418125 0.343409 ID=COSM454296,COSM454297;OCCURENCE=1(breast) 0.399 NA 8.0518084 855 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 855 19 14910573 14910573 C T exonic OR7C1 NA nonsynonymous SNV OR7C1:NM_198944:exon1:c.G376A:p.V126I exonic ENSG00000127530 NA nonsynonymous SNV ENSG00000127530:ENST00000248073:exon1:c.G376A:p.V126I Score=439;Name=lod=81 NA 19p13.12 NA NA NA NA rs10415562 0.81 0.81 0.829 0.839058 0.7366 0.8869 0.7925 0.8797 0.8732 0.75 0.87 0.77 0.86 0.7849 0.87 1 T 0.007 B 0.001 B 0.002 N 1.000 P -2.68 N 1.73 T -0.993 T 0.000 T 0.038 -1.641 0.013 2.59 0.115 1.716 4.313 -1.641372 NA 1 0.760698 0.853836 NA 0.754 NA 8.0511354 855 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 855 8 101586133 101586133 T C exonic SNX31 NA nonsynonymous SNV SNX31:NM_152628:exon14:c.A1283G:p.D428G exonic ENSG00000174226 NA nonsynonymous SNV ENSG00000174226:ENST00000428383:exon11:c.A986G:p.D329G,ENSG00000174226:ENST00000311812:exon14:c.A1283G:p.D428G NA NA 8q22.2 Score=905;Name=V$AP1_Q2 NA NA NA rs2022923 0.43 0.43 0.445 0.411941 0.4364 0.2778 0.3689 0.5514 0.3671 0.45 0.28 0.39 0.62 0.4182 0.62 0.64 T 0.0 B 0.001 B 0.144 N 1.000 P -0.69 N 2.24 T -0.976 T 0.000 T 0.303 0.683 7.65 -11.0 -2.690 -0.575 3.768 0.682808 NA 0.15 0.429037 0.532698 ID=COSM453749;OCCURENCE=1(breast) 0.341 NA 8.0496964 855 3 56835761 56835761 G A exonic ARHGEF3 NA synonymous SNV ARHGEF3:NM_019555:exon1:c.C66T:p.P22P exonic ENSG00000163947 NA synonymous SNV ENSG00000163947:ENST00000296315:exon1:c.C66T:p.P22P,ENSG00000163947:ENST00000495373:exon1:c.C66T:p.P22P Score=622;Name=lod=450 NA 3p14.3 Score=778;Name=V$PAX5_01 Name=CTCF Name=119 NA rs3732508 0.35 0.35 0.289 0.321286 0.5716 0.1944 0.487 0.0227 0.4806 0.59 0.2 0.5 0.04 0.5078 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.79654 1.79654 NA 0.538991 0.111971 ID=COSM1485411,COSM446908;OCCURENCE=1(breast) 0.232 NA 8.0482756 855 22 43579049 43579049 T C exonic TTLL12 NA nonsynonymous SNV TTLL12:NM_015140:exon2:c.A284G:p.N95S exonic ENSG00000100304 NA nonsynonymous SNV ENSG00000100304:ENST00000216129:exon2:c.A284G:p.N95S NA NA 22q13.2 Score=941;Name=V$AP4_Q6 NA NA NA rs13058467 0.06 0.06 0.048 0.0497204 0.0974 0.001 0.0692 0.0522 0.0337 0.09 NA 0.08 0.07 0.0799 0.11 0.7 T 0.0 B 0.001 B 0.753 N 1.000 P 0.345 N 3.28 T -0.912 T 0.000 T 0.004 -1.144 0.107 0.063 0.177 0.178 0.851 -1.14397 NA 0.39 0.10814 0.072628 NA 0.109 NA 8.0478934 855 1 38019747 38019747 C T exonic SNIP1 NA synonymous SNV SNIP1:NM_024700:exon1:c.G84A:p.V28V exonic ENSG00000163877 NA synonymous SNV ENSG00000163877:ENST00000296215:exon1:c.G84A:p.V28V Score=410;Name=lod=62 NA 1p34.3 NA Name=Sin3Ak-20,Pol2,Pol2(phosphoS2),HEY1,ETS1,GABP,Pol2-4H8,TAF1,Pol2(b),HMGN3,ELK4,Egr-1,TBP Name=148 NA rs2273013 0.23 0.23 0.208 0.229233 0.2177 0.3938 0.2896 0.0643 0.2515 0.22 0.38 0.28 0.05 0.2183 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.843033 NA NA 0.182876 0.076748 ID=COSM1627042;OCCURENCE=1(liver) 0.225 NA 8.0477906 855 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 855 17 39084504 39084504 T C exonic KRT23 NA nonsynonymous SNV KRT23:NM_015515:exon6:c.A907G:p.T303A exonic ENSG00000108244 NA nonsynonymous SNV ENSG00000108244:ENST00000436344:exon5:c.A496G:p.T166A,ENSG00000108244:ENST00000209718:exon6:c.A907G:p.T303A Score=512;Name=lod=160 NA 17q21.2 NA NA NA NA rs9257 0.56 0.56 0.542 0.583267 0.4076 0.7083 0.6081 0.6029 0.591 0.4 0.74 0.56 0.59 0.485 0.74 0.85 T 0.0 B 0.0 B 0.020 N 1.000 P -1.08 N -2.31 D -0.970 T 0.000 T 0.031 0.682 7.644 -1.48 -0.303 0.423 8.490 0.681559 NA 0.41 0.393605 0.560145 NA 0.58 NA 8.0471284 855 5 176517797 176517797 C T exonic FGFR4 NA nonsynonymous SNV FGFR4:NM_022963:exon3:c.C407T:p.P136L,FGFR4:NM_002011:exon4:c.C407T:p.P136L,FGFR4:NM_213647:exon4:c.C407T:p.P136L exonic ENSG00000160867 NA nonsynonymous SNV ENSG00000160867:ENST00000393637:exon3:c.C407T:p.P136L,ENSG00000160867:ENST00000292408:exon4:c.C407T:p.P136L,ENSG00000160867:ENST00000292410:exon4:c.C407T:p.P136L,ENSG00000160867:ENST00000393648:exon4:c.C407T:p.P136L,ENSG00000160867:ENST00000502906:exon4:c.C407T:p.P136L,ENSG00000160867:ENST00000503708:exon4:c.C407T:p.P136L NA NA 5q35.2 NA NA NA NA rs376618 0.81 0.81 0.78 0.807308 0.7396 1 0.8271 0.6301 0.9039 0.74 1 0.81 0.71 0.795 1 0.33 T 0.001 B 0.002 B 0.127 U 1.000 P 0 N -1.01 T -0.960 T 0.000 T 0.1 -0.337 2.403 2.85 1.120 1.658 9.649 -0.337075 NA 0.31 0.751977 0.66069 NA 0.862 NA 8.0467564 855 1 153234295 153234295 G A exonic LOR NA synonymous SNV LOR:NM_000427:exon2:c.G870A:p.G290G exonic ENSG00000203782 NA synonymous SNV ENSG00000203782:ENST00000368742:exon2:c.G870A:p.G290G Score=381;Name=lod=47 NA 1q21.3 NA NA NA NA rs12043009 0.22 0.22 0.24 0.194289 0.2326 0.0685 0.1542 0.3828 0.0583 0.24 0.08 0.18 0.4 0.217 0.4 0 D . . . . . . 0.996 P . . . . -1.012 T 0.061 T . 0.761 8.025 -1.45 -0.548 -0.788 4.328 0.760514 NA NA 0.171481 0.295596 NA 0.116 NA 8.0455856 856 16 48122582 48122582 G A exonic ABCC12 NA nonsynonymous SNV ABCC12:NM_033226:exon24:c.C3349T:p.R1117C exonic ENSG00000140798 NA nonsynonymous SNV ENSG00000140798:ENST00000311303:exon24:c.C3349T:p.R1117C NA NA 16q12.1 NA NA NA NA rs7193955 0.63 0.63 0.63 0.591254 0.7873 0.8889 0.5331 0.1112 0.773 0.8 0.9 0.54 0.14 0.719 0.9 0.05 D 0.004 B 0.006 B 0.159 N 1.000 P 1.88 L -2.74 D -0.981 T 0.000 T 0.145 0.74 7.927 2.67 0.781 0.035 3.951 0.739832 NA 0.05 0.782558 0.231713 ID=COSM1378010;OCCURENCE=1(large_intestine) 0.609 NA 8.0444754 856 7 31848706 31848706 A G exonic PDE1C NA synonymous SNV PDE1C:NM_001191056:exon16:c.T1830C:p.G610G,PDE1C:NM_001191057:exon16:c.T1830C:p.G610G,PDE1C:NM_001191058:exon17:c.T2010C:p.G670G,PDE1C:NM_001191059:exon17:c.T1830C:p.G610G,PDE1C:NM_005020:exon17:c.T1830C:p.G610G exonic ENSG00000154678 NA synonymous SNV ENSG00000154678:ENST00000396182:exon16:c.T1830C:p.G610G,ENSG00000154678:ENST00000396191:exon16:c.T1830C:p.G610G,ENSG00000154678:ENST00000321453:exon17:c.T1830C:p.G610G,ENSG00000154678:ENST00000396184:exon17:c.T1830C:p.G610G,ENSG00000154678:ENST00000396193:exon17:c.T2010C:p.G670G Score=517;Name=lod=168 NA 7p14.3 Score=799;Name=V$RSRFC4_01 NA Name=7 NA rs3213709 0.2 0.2 0.195 0.189896 0.2167 0.124 0.1542 0.2209 0.2137 0.22 0.15 0.17 0.24 0.202 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.193328 NA NA 0.203536 0.212988 ID=COSM150260,COSM150261;OCCURENCE=1(stomach) 0.203 NA 8.0444306 856 14 81743718 81743718 C T exonic STON2 NA nonsynonymous SNV STON2:NM_033104:exon5:c.G1937A:p.R646H,STON2:NM_001256430:exon6:c.G1937A:p.R646H exonic ENSG00000140022 NA nonsynonymous SNV ENSG00000140022:ENST00000267540:exon4:c.G1937A:p.R646H,ENSG00000140022:ENST00000555447:exon6:c.G1937A:p.R646H NA NA 14q31.1 NA NA Name=6 NA rs34323725 0.07 0.07 0.071 0.0686901 0.0944 0.006 0.0476 0.1165 0.0573 0.09 0.01 0.05 0.15 0.0913 0.15 0.72 T 0.121 B 0.025 B 0.003 N 0.999 P 0.64 N 2.16 T -0.959 T 0.000 T 0.124 -1.003 0.256 0.185 -0.008 -0.822 7.126 -1.002835 NA 0.24 0.103953 0.118702 NA 0.08 NA 8.0436804 856 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 856 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 856 19 9074265 9074265 G A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.C13181T:p.T4394I exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C13181T:p.T4394I NA NA 19p13.2 NA NA NA NA rs10406209 0.15 0.15 0.149 0.153355 0.2634 0.0089 0.183 0.1142 0.2209 0.27 0.01 0.2 0.11 0.2382 0.29 0 D 0.871 P 0.18 B . . . . 0 N 4.28 T -0.861 T 0.000 T 0.106 -0.06 3.708 0.509 0.231 0.366 5.625 -0.060188 NA 0.02 0.289511 0.122678 NA 0.13 NA 8.0422224 856 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 856 6 33036505 33036505 G C exonic HLA-DPA1 NA synonymous SNV HLA-DPA1:NM_033554:exon4:c.C705G:p.V235V,HLA-DPA1:NM_001242524:exon5:c.C705G:p.V235V,HLA-DPA1:NM_001242525:exon5:c.C705G:p.V235V exonic ENSG00000231389 NA synonymous SNV ENSG00000231389:ENST00000428995:exon4:c.C705G:p.V235V,ENSG00000231389:ENST00000419277:exon5:c.C705G:p.V235V Score=452;Name=lod=92 NA 6p21.32 NA NA NA NA rs1042434 0.43 0.43 0.432 0.475439 0.1889 0.6796 0.2997 0.7095 0.3681 0.17 0.65 0.27 0.71 0.2579 0.71 . . . . . . . . 0.000 P . . . . -1.073 T 0.060 T . -0.8 0.676 2.51 0.212 0.007 7.143 -0.800149 NA NA 0.178664 0.565232 NA 0.42 NA 8.0412026 856 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 856 12 122617989 122617989 A G exonic MLXIP NA nonsynonymous SNV MLXIP:NM_014938:exon9:c.A1187G:p.E396G exonic ENSG00000175727 NA nonsynonymous SNV ENSG00000175727:ENST00000377037:exon1:c.A8G:p.E3G,ENSG00000175727:ENST00000538698:exon1:c.A8G:p.E3G,ENSG00000175727:ENST00000319080:exon9:c.A1187G:p.E396G NA NA 12q24.31 NA Name=CTCF_(SC-5916),CTCF Name=12 NA rs7978353 0.43 0.43 0.417 0.455871 0.4742 0.3581 0.3934 0.5113 0.5072 0.46 0.37 0.39 0.48 0.4265 0.49 0.59 T 0.0 B 0.001 B 0.013 N 1.000 P . . 2.51 T -0.926 T 0.000 T 0.035 0.159 4.856 -0.212 -0.658 0.805 6.064 0.159087 NA 0.39 0.391918 0.487931 ID=COSM430564;OCCURENCE=1(breast),1(large_intestine) 0.457 NA 8.0407154 856 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 856 22 45683304 45683304 G C exonic UPK3A NA nonsynonymous SNV UPK3A:NM_006953:exon3:c.G460C:p.A154P exonic ENSG00000100373 NA nonsynonymous SNV ENSG00000100373:ENST00000216211:exon3:c.G460C:p.A154P Score=454;Name=lod=93 NA 22q13.31 Score=812;Name=V$CEBP_C NA NA NA rs1057353 0.76 0.76 0.753 0.774361 0.7396 0.7262 0.817 0.82 0.7679 0.73 0.74 0.78 0.83 0.7788 0.83 0.7 T 0.0 B 0.001 B 0.010 N 0.000 P -0.745 N -0.03 T -0.955 T 0.000 T 0.094 -0.923 0.392 3.37 0.273 0.433 15.703 -0.922748 NA 1 0.777791 0.811308 NA 0.848 NA 8.0371424 856 8 17796382 17796382 A G exonic PCM1 NA nonsynonymous SNV PCM1:NM_006197:exon5:c.A476G:p.N159S exonic ENSG00000078674 NA nonsynonymous SNV ENSG00000078674:ENST00000523055:exon4:c.A476G:p.N159S,ENSG00000078674:ENST00000524226:exon4:c.A476G:p.N159S,ENSG00000078674:ENST00000325083:exon5:c.A476G:p.N159S,ENSG00000078674:ENST00000517730:exon5:c.A476G:p.N159S,ENSG00000078674:ENST00000518537:exon5:c.A476G:p.N159S,ENSG00000078674:ENST00000519253:exon5:c.A476G:p.N159S Score=389;Name=lod=51 NA 8p22 NA NA NA NA rs412750 0.61 0.61 0.732 0.690495 0.7634 0.62 0.6326 0.8094 0.5685 0.65 0.54 0.59 0.64 0.7324 0.84 1 T 0.0 B 0.0 B 0.000 N 0.000 P . . 3.99 T -0.976 T 0.000 T 0.046 -1.213 0.066 4.85 0.912 1.132 13.113 -1.213411 NA 1 0.802068 0.839744 NA NA NA 8.0354654 857 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 857 10 32120678 32120678 C T exonic ARHGAP12 NA synonymous SNV ARHGAP12:NM_001270699:exon6:c.G1281A:p.G427G,ARHGAP12:NM_001270698:exon7:c.G1206A:p.G402G,ARHGAP12:NM_001270696:exon8:c.G1347A:p.G449G,ARHGAP12:NM_001270695:exon9:c.G1422A:p.G474G,ARHGAP12:NM_001270697:exon9:c.G1296A:p.G432G,ARHGAP12:NM_018287:exon10:c.G1437A:p.G479G exonic ENSG00000165322 NA synonymous SNV ENSG00000165322:ENST00000311380:exon6:c.G1281A:p.G427G,ENSG00000165322:ENST00000375245:exon8:c.G1281A:p.G427G,ENSG00000165322:ENST00000375250:exon8:c.G1347A:p.G449G,ENSG00000165322:ENST00000396144:exon9:c.G1422A:p.G474G,ENSG00000165322:ENST00000344936:exon10:c.G1437A:p.G479G Score=579;Name=lod=302 NA 10p11.22 Score=755;Name=V$MEF2_04 NA NA NA rs2808100 0.24 0.24 0.205 0.241813 0.2048 0.4127 0.2983 0.0908 0.2679 0.22 0.38 0.25 0.09 0.2242 0.38 . . . . . . . . 0.000 P . . . . -0.938 T 0.000 T . 1.026 9.19 0.098 -0.165 -0.141 5.511 1.025724 NA NA 0.203234 0.108182 NA 0.29 NA 8.0344326 857 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 857 9 139732462 139732462 C T exonic RABL6 NA synonymous SNV RABL6:NM_001173988:exon10:c.C1278T:p.S426S,RABL6:NM_024718:exon10:c.C1275T:p.S425S exonic ENSG00000196642 NA synonymous SNV ENSG00000196642:ENST00000435930:exon2:c.C657T:p.S219S,ENSG00000196642:ENST00000311502:exon10:c.C1275T:p.S425S,ENSG00000196642:ENST00000371663:exon10:c.C1278T:p.S426S,ENSG00000196642:ENST00000371675:exon10:c.C930T:p.S310S,ENSG00000196642:ENST00000432842:exon10:c.C1161T:p.S387S,ENSG00000196642:ENST00000464941:exon10:c.C1161T:p.S387S Score=431;Name=lod=75 NA 9q34.3 Score=921;Name=V$AREB6_01 Name=Pol2(phosphoS2) NA NA rs2811740 0.11 0.11 0.09 0.102835 0.2097 0.0119 0.2176 0.0091 0.1319 0.21 0.01 0.2 0.01 0.2347 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.655122 1.655122 NA 0.189084 0.031969 ID=COSM455624,COSM455623;OCCURENCE=1(breast) 0.145 NA 8.0331826 857 19 42728836 42728836 T C exonic ZNF526 NA nonsynonymous SNV ZNF526:NM_133444:exon3:c.T281C:p.V94A exonic ENSG00000167625 NA nonsynonymous SNV ENSG00000167625:ENST00000301215:exon3:c.T281C:p.V94A NA NA 19q13.2 NA NA NA NA rs3810151 0.08 0.08 0.065 0.0874601 0.0905 0.0863 0.1066 0.0068 0.181 0.09 0.08 0.12 0.01 0.1094 0.12 . . 0.0 B 0.0 B 0.654 N 1.000 P -0.345 N 3.06 T -0.920 T 0.000 T 0.002 -1.526 0.016 1.66 0.593 -0.444 5.876 -1.526062 NA 0.58 0.100581 0.017703 NA 0.051 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118953.2;CLNDSDB=.;CLNDSDBID=. 8.0328524 857 19 53994802 53994802 A T exonic ZNF813 NA nonsynonymous SNV ZNF813:NM_001004301:exon4:c.A1316T:p.Y439F exonic ENSG00000198346 NA nonsynonymous SNV ENSG00000198346:ENST00000396403:exon4:c.A1316T:p.Y439F NA NA 19q13.42 NA NA NA NA rs10422163 0.12 0.12 0.135 0.127196 0.1093 0.0754 0.1153 0.2118 0.093 0.11 0.09 0.12 0.19 0.1062 0.19 0.09 T 0.74 P 0.455 P . . 1.000 P -0.015 N 2.22 T -0.963 T 0.000 T 0.076 1.603 11.32 -0.088 -0.741 -0.661 5.404 1.603095 1.603095 0.04 0.085278 0.181964 ID=COSM148733;OCCURENCE=1(stomach) 0.138 NA 8.0325554 857 17 72613589 72613589 T G exonic CD300E NA nonsynonymous SNV CD300E:NM_181449:exon2:c.A56C:p.K19T exonic ENSG00000186407 NA nonsynonymous SNV ENSG00000186407:ENST00000328630:exon2:c.A56C:p.K19T,ENSG00000186407:ENST00000392619:exon2:c.A137C:p.K46T,ENSG00000186407:ENST00000412268:exon2:c.A62C:p.K21T,ENSG00000186407:ENST00000426295:exon2:c.A179C:p.K60T NA NA 17q25.1 NA NA NA NA rs581157 0.44 0.44 0.439 0.433706 0.4294 0.3532 0.3501 0.618 0.3313 0.44 0.35 0.35 0.64 0.432 0.64 0.4 T 0.0 B 0.0 B 0.056 N 1.000 P -1.31 N -0.02 T -0.942 T 0.000 T 0.233 -0.104 3.49 -3.69 -0.592 -3.607 4.551 -0.104128 NA 0.27 0.439651 0.581707 NA 0.37 NA 8.0322824 857 1 39340282 39340282 C T exonic GJA9 NA nonsynonymous SNV GJA9:NM_030772:exon2:c.G1489A:p.V497I exonic ENSG00000131233 NA nonsynonymous SNV ENSG00000131233:ENST00000360786:exon1:c.G1489A:p.V497I,ENSG00000131233:ENST00000357771:exon2:c.G1489A:p.V497I NA NA 1p34.3 NA NA NA NA rs880303 0.35 0.35 0.305 0.310903 0.4523 0.2718 0.4813 0.1452 0.3088 0.45 0.29 0.47 0.15 0.3937 0.47 0.45 T 0.0 B 0.0 B 0.001 N 1.000 P 0 N -4.36 D -0.878 T 0.000 T 0.024 0.759 8.017 -4.7 -0.846 0.499 1.938 0.758789 NA 0.28 0.455116 0.187699 NA 0.239 NA 8.0322174 857 10 32141460 32141460 T C exonic ARHGAP12 NA synonymous SNV ARHGAP12:NM_001270699:exon3:c.A1014G:p.E338E,ARHGAP12:NM_001270697:exon5:c.A1014G:p.E338E,ARHGAP12:NM_001270698:exon5:c.A1014G:p.E338E,ARHGAP12:NM_001270695:exon6:c.A1155G:p.E385E,ARHGAP12:NM_001270696:exon6:c.A1155G:p.E385E,ARHGAP12:NM_018287:exon6:c.A1155G:p.E385E exonic ENSG00000165322 NA synonymous SNV ENSG00000165322:ENST00000311380:exon3:c.A1014G:p.E338E,ENSG00000165322:ENST00000375245:exon5:c.A1014G:p.E338E,ENSG00000165322:ENST00000344936:exon6:c.A1155G:p.E385E,ENSG00000165322:ENST00000375250:exon6:c.A1155G:p.E385E,ENSG00000165322:ENST00000396144:exon6:c.A1155G:p.E385E Score=595;Name=lod=349 NA 10p11.22 NA NA NA NA rs2799021 0.23 0.23 0.216 0.231829 0.2048 0.4127 0.2954 0.0545 0.2679 0.22 0.38 0.25 0.06 0.2176 0.38 . . . . . . . . 0.000 P . . . . -0.965 T 0.000 T . 0.992 9.049 2.14 0.108 0.386 10.320 0.991719 NA NA 0.212326 0.084203 NA 0.283 NA 8.0319406 857 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 857 1 156846233 156846233 G A exonic NTRK1 NA synonymous SNV NTRK1:NM_001012331:exon13:c.G1656A:p.Q552Q,NTRK1:NM_001007792:exon14:c.G1566A:p.Q522Q,NTRK1:NM_002529:exon14:c.G1674A:p.Q558Q exonic ENSG00000198400 NA synonymous SNV ENSG00000198400:ENST00000358660:exon13:c.G1665A:p.Q555Q,ENSG00000198400:ENST00000368196:exon13:c.G1656A:p.Q552Q,ENSG00000198400:ENST00000392302:exon14:c.G1566A:p.Q522Q,ENSG00000198400:ENST00000524377:exon14:c.G1674A:p.Q558Q Score=466;Name=lod=104 NA 1q23.1 NA Name=CTCF_(SC-5916),CTCF,TBP,Max,Rad21 Name=4 NA rs6334 0.21 0.21 0.199 0.212859 0.1968 0.3204 0.2205 0.1142 0.2464 0.19 0.34 0.21 0.1 0.2203 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.227804 NA NA 0.219419 0.143214 NA 0.145 NA 8.0301476 857 12 120189879 120189879 A G exonic CIT NA synonymous SNV CIT:NM_007174:exon22:c.T2754C:p.A918A,CIT:NM_001206999:exon23:c.T2880C:p.A960A exonic ENSG00000122966 NA synonymous SNV ENSG00000122966:ENST00000261833:exon22:c.T2754C:p.A918A,ENSG00000122966:ENST00000392521:exon23:c.T2880C:p.A960A NA NA 12q24.23 NA NA NA NA rs904655 0.58 0.58 0.516 0.599441 0.5298 0.5675 0.6686 0.6536 0.5818 0.53 0.54 0.68 0.62 0.5723 0.68 . . . . . . . . 0.000 P . . . . -0.934 T 0.000 T . 1.364 10.49 -8.33 -1.205 -3.075 0.289 1.364487 1.364487 NA 0.534535 0.643895 NA 0.645 NA 8.0300316 857 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 857 14 78710044 78710044 G A intergenic NONE,NRXN3 dist=NONE;dist=160030 NA NA exonic ENSG00000021645 NA nonsynonymous SNV ENSG00000021645:ENST00000554738:exon1:c.G608A:p.G203D NA NA 14q24.3 NA NA NA NA rs11626446 0.22 0.22 0.195 0.19988 0.2883 0.2292 0.1643 0.0938 0.2474 0.31 0.23 0.2 0.09 0.2461 0.31 . . . . . . . . 0.005 P . . . . -1.010 T 0.000 T 0.146 1.875 12.23 3.14 1.626 2.594 10.710 1.874813 1.874813 NA 0.269965 0.112443 NA 0.159 NA 8.0289684 857 14 37135752 37135752 C T exonic PAX9 NA synonymous SNV PAX9:NM_006194:exon4:c.C717T:p.H239H exonic ENSG00000198807 NA synonymous SNV ENSG00000198807:ENST00000554201:exon2:c.C156T:p.H52H,ENSG00000198807:ENST00000361487:exon3:c.C717T:p.H239H,ENSG00000198807:ENST00000402703:exon4:c.C717T:p.H239H Score=481;Name=lod=120 NA 14q13.3 NA Name=CtBP2,CTCF Name=9 NA rs12881240 0.17 0.17 0.178 0.160144 0.2167 0.3155 0.1196 0.0129 0.1697 0.19 0.32 0.12 0.01 0.2163 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.613417 NA NA 0.205188 0.047914 ID=COSM1162586;OCCURENCE=1(pancreas) 0.094 NA 8.0284786 857 6 31627523 31627523 C T exonic C6orf47 NA nonsynonymous SNV C6orf47:NM_021184:exon1:c.G202A:p.G68R exonic ENSG00000204439 NA nonsynonymous SNV ENSG00000204439:ENST00000375911:exon1:c.G202A:p.G68R NA NA 6p21.33 NA Name=Sin3Ak-20,NRSF,ELF1_(SC-631) Name=79 NA rs3130617 0.81 0.81 0.801 0.815695 0.7714 0.9722 0.8285 0.6823 0.8712 0.77 0.96 0.83 0.7 0.7904 0.96 0.8 T 0.0 B 0.006 B 0.838 N 1.000 P 1.935 M 1.45 T -0.967 T 0.021 T 0.02 -1.909 0.008 -0.639 -0.614 -0.376 6.210 -1.909026 NA 0.98 0.743448 0.688617 NA 0.812 NA 8.0280854 857 19 282753 282753 G A exonic PPAP2C NA nonsynonymous SNV PPAP2C:NM_003712:exon4:c.C539T:p.A180V,PPAP2C:NM_177526:exon4:c.C371T:p.A124V,PPAP2C:NM_177543:exon4:c.C602T:p.A201V exonic ENSG00000141934 NA nonsynonymous SNV ENSG00000141934:ENST00000269812:exon4:c.C539T:p.A180V,ENSG00000141934:ENST00000327790:exon4:c.C602T:p.A201V,ENSG00000141934:ENST00000434325:exon4:c.C371T:p.A124V Score=431;Name=lod=75 NA 19p13.3 NA NA NA NA rs1138439 0.37 0.37 0.395 0.364617 0.4602 0.1181 0.4323 0.4682 0.3323 0.48 0.15 0.42 0.43 0.4121 0.48 0.24 T 0.054 B 0.05 B 0.001 N 0.001 P 1.335 L -0.93 T -0.941 T 0.000 T 0.117 0.436 6.371 -0.069 -0.160 6.075 8.949 0.4365 NA 0.15 0.433023 0.465048 ID=COSM1392232,COSM1392233;OCCURENCE=2(large_intestine) 0.471 NA 8.0280104 857 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 857 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 858 5 142593652 142593652 C T exonic ARHGAP26 NA synonymous SNV ARHGAP26:NM_001135608:exon22:c.C2190T:p.N730N,ARHGAP26:NM_015071:exon22:c.C2355T:p.N785N exonic ENSG00000145819 NA nonsynonymous SNV ENSG00000145819:ENST00000425417:exon2:c.C200T:p.T67M Score=467;Name=lod=105 NA 5q31.3 NA Name=ZBTB7A_(SC-34508),c-Fos,EBF,TBP,PAX5-N19,PAX5-C20,MEF2C_(SC-13268),RXRA,eGFP-JunD,FOSL1_(SC-183),SP1,BATF,YY1_(C-20),Pol2-4H8,BCL11A,EBF1_(C-8),NFKB,IRF4_(M-17),Pol2 Name=50 NA rs258819 0.99 0.99 0.999 0.996406 0.9871 1 0.9928 1 1 0.98 1 0.99 1 0.9938 1 . . . . . . . . 0.000 P . . . . -1.011 T 0.000 T . 0.285 5.541 -1.73 -0.976 -0.722 8.150 0.2848 NA NA 0.994999 0.998638 NA 0.986 NA 8.024101 858 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 858 14 94936110 94936110 G A exonic SERPINA9 NA nonsynonymous SNV SERPINA9:NM_001042518:exon2:c.C122T:p.P41L,SERPINA9:NM_175739:exon2:c.C122T:p.P41L exonic ENSG00000170054 NA nonsynonymous SNV ENSG00000170054:ENST00000298845:exon2:c.C122T:p.P41L,ENSG00000170054:ENST00000337425:exon2:c.C122T:p.P41L,ENSG00000170054:ENST00000380365:exon2:c.C68T:p.P23L NA NA 14q32.13 NA NA NA NA rs45438398 0.06 0.06 0.041 0.0585064 0.0974 0.0188 0.0865 0.0219 0.089 0.08 0.02 0.08 0.03 0.0947 0.12 0.28 T 0.039 B 0.01 B 0.025 U 1.000 P 0 N -2.33 D -0.936 T 0.008 T 0.041 1.681 11.58 -1.2 0.123 0.074 0.626 1.680823 1.680823 0.06 0.11891 0.035696 NA 0.109 NA 8.0223234 858 5 149374932 149374932 T C exonic TIGD6 NA nonsynonymous SNV TIGD6:NM_001243253:exon2:c.A980G:p.Q327R,TIGD6:NM_030953:exon2:c.A980G:p.Q327R exonic ENSG00000164296 NA nonsynonymous SNV ENSG00000164296:ENST00000296736:exon2:c.A980G:p.Q327R,ENSG00000164296:ENST00000515406:exon2:c.A980G:p.Q327R NA NA 5q32 NA NA NA NA rs10875553 0.69 0.69 0.656 0.667532 0.7624 0.6954 0.7507 0.5053 0.7014 0.77 0.67 0.74 0.56 0.7538 0.8 1 T 0.0 B 0.0 B 0.003 N 1.000 P -1.51 N 1.93 T -0.969 T 0.000 T 0.026 -2.955 0.001 3.82 0.966 2.151 9.621 -2.955067 NA 1 0.795465 0.544485 NA 0.71 NA 8.0216684 858 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 858 1 43296195 43296195 C T exonic ERMAP NA nonsynonymous SNV ERMAP:NM_018538:exon2:c.C76T:p.H26Y,ERMAP:NM_001017922:exon3:c.C76T:p.H26Y exonic ENSG00000164010 NA nonsynonymous SNV ENSG00000164010:ENST00000372514:exon2:c.C76T:p.H26Y,ENSG00000164010:ENST00000372517:exon3:c.C76T:p.H26Y NA NA 1p34.2 NA NA NA NA rs33953680 0.16 0.16 0.123 0.142372 0.2952 0.0099 0.2723 0.0234 0.1902 0.29 0.01 0.3 0.03 0.2414 0.3 1 T 0.985 D 0.657 P 0.247 N 1.000 P 0 N 0.9 T -1.031 T 0.000 T 0.058 0.799 8.207 0.706 0.192 -0.089 8.39 0.799368 NA 0.35 0.278023 0.069678 NA 0.167 NA 8.0187104 858 19 43087484 43087484 A C exonic CEACAM8 NA nonsynonymous SNV CEACAM8:NM_001816:exon5:c.T964G:p.L322V exonic ENSG00000124469 NA nonsynonymous SNV ENSG00000124469:ENST00000599005:exon2:c.T70G:p.L24V,ENSG00000124469:ENST00000244336:exon5:c.T964G:p.L322V NA NA 19q13.2 NA NA NA NA rs1126458 0.13 0.13 0.105 0.144968 0.0934 0.0952 0.2522 0.143 0.1759 0.1 0.09 0.19 0.17 0.1328 0.19 0.82 T 0.015 B 0.018 B . . 1.000 P 0 N 2.16 T -0.956 T 0.000 T 0.022 -2.273 0.004 -2.43 -0.909 -0.042 5.532 -2.273399 NA 1 0.09186 0.116659 NA 0.109 NA 8.0152734 859 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$CHX10_01 Name=Pol2(phosphoS2) NA NA rs752730 0.2 0.2 0.162 0.192692 0.2018 0.2242 0.4207 0.0756 0.1472 0.2 0.22 0.35 0.06 0.2335 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.397144 NA NA 0.21686 0.090785 NA 0.181 NA 8.0145066 859 11 66188761 66188761 G T exonic NPAS4 NA synonymous SNV NPAS4:NM_178864:exon1:c.G111T:p.L37L exonic ENSG00000174576 NA synonymous SNV ENSG00000174576:ENST00000311034:exon1:c.G111T:p.L37L,ENSG00000174576:ENST00000525148:exon1:c.G111T:p.L37L Score=633;Name=lod=496 NA 11q13.2 Score=761;Name=V$PAX5_02 Name=NRSF,SUZ12 NA NA rs77600363 0.19 0.19 0.151 0.169728 0.2157 0.1696 0.3963 0.0204 0.1636 0.22 0.18 0.35 0.02 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 1.270759 1.270759 NA 0.215832 0.051136 NA 0.138 NA 8.0143346 859 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 859 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 859 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 859 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 859 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 859 22 31013419 31013419 C T exonic TCN2 NA nonsynonymous SNV TCN2:NM_000355:exon7:c.C1043T:p.S348F,TCN2:NM_001184726:exon7:c.C962T:p.S321F exonic ENSG00000185339 NA nonsynonymous SNV ENSG00000185339:ENST00000215838:exon7:c.C1043T:p.S348F,ENSG00000185339:ENST00000405742:exon7:c.C1031T:p.S344F,ENSG00000185339:ENST00000407817:exon7:c.C962T:p.S321F NA NA 22q12.2 NA NA NA NA rs9621049 0.1 0.1 0.083 0.108626 0.1004 0.001 0.2003 0.1657 0.0859 0.11 NA 0.15 0.14 0.1119 0.15 0.8 T 0.002 B 0.001 B 0.815 N 1.000 P 1.04 L 1.1 T -1.025 T 0.000 T 0.121 1.135 9.625 -5.28 -0.765 -0.728 5.955 1.134786 NA 0.17 0.113721 0.153427 NA 0.174 NA 8.0073124 859 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 859 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$MEF2_04 NA NA NA rs7770158 0.3 0.3 0.285 0.339856 0.2286 0.4236 0.2896 0.2927 0.4673 0.23 0.41 0.27 0.29 0.2552 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88701 NA NA 0.177674 0.279619 NA 0.319 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118180.2;CLNDSDB=.;CLNDSDBID=. 8.0051926 860 10 71562437 71562437 G A exonic COL13A1 NA synonymous SNV COL13A1:NM_001130103:exon1:c.G258A:p.T86T,COL13A1:NM_080798:exon1:c.G258A:p.T86T,COL13A1:NM_080800:exon1:c.G258A:p.T86T,COL13A1:NM_080801:exon1:c.G258A:p.T86T,COL13A1:NM_080802:exon1:c.G258A:p.T86T,COL13A1:NM_080805:exon1:c.G258A:p.T86T exonic ENSG00000197467 NA synonymous SNV ENSG00000197467:ENST00000354547:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000356340:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000357811:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398964:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398966:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398968:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398969:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398971:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398972:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398973:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398974:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000398978:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000479733:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000517713:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000520133:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000520267:exon1:c.G258A:p.T86T,ENSG00000197467:ENST00000522165:exon1:c.G258A:p.T86T Score=610;Name=lod=400 NA 10q22.1 Score=771;Name=V$MEF2_01 Name=TCF4,ZNF263,CTCF 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 860 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 860 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 860 13 99479139 99479139 T C exonic DOCK9 NA unknown UNKNOWN exonic ENSG00000088387 NA synonymous SNV ENSG00000088387:ENST00000451563:exon2:c.A63G:p.A21A,ENSG00000088387:ENST00000340449:exon8:c.A831G:p.A277A,ENSG00000088387:ENST00000339416:exon44:c.A4902G:p.A1634A,ENSG00000088387:ENST00000376460:exon44:c.A4899G:p.A1633A Score=412;Name=lod=63 NA 13q32.3 NA NA NA NA rs17709314 0.05 0.05 0.045 0.0427316 0.1213 0.001 0.0548 0.0068 0.045 0.11 NA 0.07 0.01 0.0999 0.11 . . . . . . . . 1.000 D . . . . -1.088 T 0.003 T . 1.048 9.28 -0.099 -0.142 -0.676 1.452 1.0479 NA NA 0.109111 0.026384 NA 0.036 NA 8.0030223 860 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 860 1 201358304 201358304 C A exonic LAD1 NA nonsynonymous SNV LAD1:NM_005558:exon2:c.G166T:p.A56S exonic ENSG00000159166 NA nonsynonymous SNV ENSG00000159166:ENST00000367313:exon2:c.G208T:p.A70S,ENSG00000159166:ENST00000391967:exon2:c.G166T:p.A56S NA NA 1q32.1 NA NA NA NA rs3738281 0.16 0.16 0.147 0.177716 0.0944 0.1081 0.0735 0.357 0.1667 0.1 0.1 0.09 0.37 0.1338 0.37 0.84 T 0.129 B 0.081 B 0.369 U 1.000 P 0.6 N 2.77 T -0.938 T 0.000 T 0.032 -1.126 0.12 0.998 -0.080 -1.218 5.229 -1.126198 NA 1 0.102558 0.316841 NA 0.159 NA 8.0025754 860 19 44471252 44471252 T C exonic ZNF221 NA nonsynonymous SNV ZNF221:NM_013359:exon6:c.T1598C:p.L533P exonic ENSG00000159905 NA nonsynonymous SNV ENSG00000159905:ENST00000587682:exon5:c.T1598C:p.L533P,ENSG00000159905:ENST00000251269:exon6:c.T1598C:p.L533P,ENSG00000159905:ENST00000592350:exon6:c.T1598C:p.L533P Score=313;Name=lod=25 NA 19q13.31 NA NA NA NA rs61734609 0.1 0.1 0.074 0.095647 0.1163 0.1389 0.0893 0.0151 0.1431 0.12 0.15 0.1 0.02 0.105 0.15 1 T 0.0 B 0.001 B . . 0.114 P -0.89 N 2.93 T -0.932 T 0.000 T 0.033 -1.548 0.015 1.74 0.403 0.945 7.557 -1.548005 NA 1 0.109535 0.029051 NA 0.138 NA 8.0024984 860 11 60705454 60705454 A G exonic SLC15A3 NA synonymous SNV SLC15A3:NM_016582:exon7:c.T1479C:p.G493G exonic ENSG00000110446 NA nonsynonymous SNV ENSG00000110446:ENST00000541505:exon6:c.T1310C:p.V437A NA NA 11q12.2 Score=797;Name=V$SRF_C NA NA NA rs2905692 0.99 0.99 0.996 0.994209 1 1 1 0.9781 1 1 1 1 0.98 0.9978 1 . . 0.0 B 0.002 B . . 0.000 P . . . . -1.048 T 0.000 T . 1.169 9.758 -8.17 -1.894 -2.531 3.999 1.169248 NA NA 0.999884 0.971176 NA 1 NA 8.002316 860 19 55441902 55441902 T C exonic NLRP7 NA synonymous SNV NLRP7:NM_001127255:exon9:c.A2775G:p.A925A,NLRP7:NM_139176:exon9:c.A2691G:p.A897A,NLRP7:NM_206828:exon9:c.A2775G:p.A925A exonic ENSG00000167634 NA synonymous SNV ENSG00000167634:ENST00000328092:exon8:c.A2691G:p.A897A,ENSG00000167634:ENST00000590030:exon8:c.A2775G:p.A925A,ENSG00000167634:ENST00000340844:exon9:c.A2775G:p.A925A,ENSG00000167634:ENST00000448121:exon9:c.A2691G:p.A897A,ENSG00000167634:ENST00000586379:exon9:c.A2775G:p.A925A,ENSG00000167634:ENST00000592784:exon9:c.A2775G:p.A925A,ENSG00000167634:ENST00000446217:exon11:c.A2859G:p.A953A,ENSG00000167634:ENST00000588756:exon11:c.A2775G:p.A925A NA NA 19q13.42 NA NA NA NA rs269950 0.57 0.57 0.558 0.590056 0.5278 0.6994 0.6124 0.5386 0.5951 0.52 0.73 0.57 0.49 0.5819 0.73 1 T . . . . . . 1.000 P . . . . -0.953 T 0.000 T . -0.242 2.834 -4.89 -1.972 -2.239 1.210 -0.241925 NA 0 0.555 0.523377 NA 0.587 NA 8.0019666 860 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 860 2 43015719 43015719 T C exonic HAAO NA nonsynonymous SNV HAAO:NM_012205:exon2:c.A109G:p.I37V exonic ENSG00000162882 NA nonsynonymous SNV ENSG00000162882:ENST00000294973:exon2:c.A109G:p.I37V,ENSG00000162882:ENST00000431905:exon3:c.A7G:p.I3V Score=389;Name=lod=51 NA 2p21 NA NA NA NA rs3816183 0.82 0.82 0.808 0.859625 0.7634 0.8026 0.8934 0.8911 0.9509 0.75 0.81 0.87 0.88 0.8061 0.88 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.75 N 1.74 T -0.970 T 0.000 T 0.235 -1.179 0.084 3.66 0.295 2.597 9.320 -1.17932 NA 1 0.762209 0.85497 NA 0.804 NA 8.0016244 860 1 111854889 111854889 A G exonic CHIA NA nonsynonymous SNV CHIA:NM_201653:exon4:c.A133G:p.N45D exonic ENSG00000134216 NA nonsynonymous SNV ENSG00000134216:ENST00000343320:exon3:c.A133G:p.N45D,ENSG00000134216:ENST00000369740:exon4:c.A133G:p.N45D NA NA 1p13.2 NA NA NA NA rs41282492 0.1 0.1 0.113 0.108626 0.1093 NA 0.0836 0.2126 0.0971 0.12 NA 0.1 0.21 0.1069 0.21 1 T 0.0 B 0.01 B 0.160 N 0.007 P 0.04 N 3.58 T -0.933 T 0.002 T 0.024 -1.328 0.032 -2.92 -0.854 0.070 13.483 -1.328299 NA 0.89 0.115777 0.185762 NA 0.094 NA 8.0013564 860 16 3254470 3254470 T C exonic OR1F1 NA nonsynonymous SNV OR1F1:NM_012360:exon1:c.T224C:p.F75S exonic ENSG00000168124 NA nonsynonymous SNV ENSG00000168124:ENST00000304646:exon1:c.T224C:p.F75S Score=389;Name=lod=51 NA 16p13.3 NA NA NA NA rs1834026 0.45 0.45 0.418 0.431909 0.4314 0.5655 0.5202 0.2738 0.4458 0.44 0.55 0.49 0.3 0.4617 0.55 1 T 0.0 B 0.0 B 0.001 N 0.999 P -2.935 N 7.62 T -1.044 T 0.000 T 0.052 -0.912 0.414 4.3 0.582 0.779 9.205 -0.911763 NA 1 0.438953 0.311334 NA 0.326 NA 8.0012804 860 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 860 20 60794766 60794766 T C intronic HRH3 NA NA NA intronic ENSG00000101180 NA NA NA Score=662;Name=lod=656 NA 20q13.33 NA Name=NRSF Name=20 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 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 NA NA 8 860 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=Rad21,CTCF,USF-1,ETS1,GABP 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 860 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 860 7 4116665 4116665 G A exonic SDK1 NA nonsynonymous SNV SDK1:NM_152744:exon21:c.G3046A:p.D1016N exonic ENSG00000146555 NA nonsynonymous SNV ENSG00000146555:ENST00000389531:exon21:c.G3046A:p.D1016N,ENSG00000146555:ENST00000404826:exon21:c.G3046A:p.D1016N NA NA 7p22.2 NA NA NA NA rs11978101 0.22 0.22 0.254 0.253594 0.2843 0.0754 0.1758 0.329 0.3589 0.27 0.06 0.23 0.31 0.2681 0.33 0.91 T 0.778 P 0.173 B 0.116 N 1.000 P -0.165 N 0.37 T -0.994 T 0.000 T 0.037 -1.686 0.012 1.48 -0.001 2.000 5.766 -1.685606 NA 0.79 0.282558 0.330005 ID=COSM1450683;OCCURENCE=1(large_intestine) 0.246 NA 7.9983754 860 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 860 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 860 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 860 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 860 19 52250216 52250216 A G exonic FPR1 NA nonsynonymous SNV FPR1:NM_002029:exon2:c.T32C:p.I11T,FPR1:NM_001193306:exon3:c.T32C:p.I11T exonic ENSG00000171051 NA nonsynonymous SNV ENSG00000171051:ENST00000304748:exon2:c.T32C:p.I11T,ENSG00000171051:ENST00000600815:exon2:c.T32C:p.I11T,ENSG00000171051:ENST00000594900:exon3:c.T32C:p.I11T,ENSG00000171051:ENST00000595042:exon3:c.T32C:p.I11T NA NA 19q13.41 NA NA NA NA rs5030878 0.83 0.83 0.836 0.834065 0.7684 0.9613 0.7896 0.7852 0.8681 0.78 0.96 0.8 0.77 0.8053 0.96 0.57 T 0.008 B 0.013 B 0.106 N 1.000 P 0 N 1.18 T -1.005 T 0.000 T 0.02 0.256 5.381 -6.88 -1.802 -2.070 0.337 0.255528 NA 0.09 0.762674 0.791648 NA 0.674 NA 7.9969594 860 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 860 8 117783975 117783975 C T exonic UTP23 NA nonsynonymous SNV UTP23:NM_032334:exon3:c.C644T:p.P215L exonic ENSG00000147679 NA nonsynonymous SNV ENSG00000147679:ENST00000309822:exon3:c.C644T:p.P215L NA NA 8q24.11 NA NA NA NA rs16888728 0.15 0.15 0.174 0.190895 0.1133 0.0129 0.0821 0.4614 0.1656 0.11 0.02 0.1 0.42 0.1258 0.42 0.3 T 0.004 B 0.001 B 0.294 N 1.000 P 1.1 L 1.87 T -0.909 T 0.000 T 0.04 0.766 8.05 -0.543 -0.081 1.576 7.267 0.765744 NA 0.21 0.098092 0.357045 ID=COSM1623553;OCCURENCE=1(liver) 0.261 NA 7.9961414 860 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-Fos,c-Jun,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 860 6 41196605 41196605 T C exonic TREML4 NA nonsynonymous SNV TREML4:NM_198153:exon2:c.T217C:p.W73R exonic ENSG00000188056 NA nonsynonymous SNV ENSG00000188056:ENST00000341495:exon2:c.T217C:p.W73R,ENSG00000188056:ENST00000448827:exon2:c.T217C:p.W73R NA NA 6p21.1 NA Name=CTCF_(SC-5916),MafK_(ab50322),CTCF,CEBPB Name=26 NA rs9369265 0.72 0.72 0.702 0.690495 0.7734 0.8383 0.8141 0.4228 0.727 0.77 0.87 0.79 0.42 0.7738 0.87 1 T 0.005 B 0.007 B . . 1.000 P -1.625 N 3.78 T -0.961 T 0.001 T 0.008 -1.792 0.01 -0.497 -0.463 -3.954 3.993 -1.792391 NA 1 0.790698 0.489333 NA 0.761 NA 7.9954354 860 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=CHD2_(N-1250),E2F6_(H-50),MafK_(ab50322),TAF1,HMGN3,GABP,ELF1_(SC-631),HEY1,c-Myc,TBP,YY1,ZBTB7A_(SC-34508) 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 860 19 53994061 53994061 A G exonic ZNF813 NA nonsynonymous SNV ZNF813:NM_001004301:exon4:c.A575G:p.Y192C exonic ENSG00000198346 NA nonsynonymous SNV ENSG00000198346:ENST00000396403:exon4:c.A575G:p.Y192C Score=300;Name=lod=22 NA 19q13.42 NA NA NA NA rs3859494 0.14 0.14 0.137 0.134385 0.1213 0.0863 0.1254 0.2156 0.0941 0.13 0.11 0.13 0.21 0.1161 0.21 1 T 0.343 B 0.111 B . . 0.000 P -1.075 N 2.91 T -0.951 T 0.000 T 0.086 -0.511 1.664 0.467 0.393 1.175 . -0.510759 NA 0.18 0.100561 0.182529 NA 0.145 NA 7.9953724 861 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 861 19 56953963 56953963 G A exonic ZNF667 NA nonsynonymous SNV ZNF667:NM_022103:exon5:c.C401T:p.P134L exonic ENSG00000198046 NA nonsynonymous SNV ENSG00000198046:ENST00000292069:exon5:c.C401T:p.P134L,ENSG00000198046:ENST00000587555:exon5:c.C401T:p.P134L,ENSG00000198046:ENST00000342634:exon7:c.C785T:p.P262L,ENSG00000198046:ENST00000504904:exon7:c.C401T:p.P134L NA NA 19q13.43 NA NA NA NA rs35914474 0.32 0.32 0.309 0.306709 0.4662 0.126 0.353 0.2776 0.3354 0.46 0.14 0.39 0.25 0.4057 0.47 0.02 D 0.001 B 0.001 B 0.162 N 1.000 P 0.69 N 3.43 T -0.902 T 0.000 T 0.049 0.206 5.11 -2.34 -0.043 -0.079 3.439 0.205925 NA 0.01 0.466612 0.30495 NA 0.348 NA 7.9948214 861 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 861 6 159654487 159654487 G T exonic FNDC1 NA synonymous SNV FNDC1:NM_032532:exon11:c.G2943T:p.P981P exonic ENSG00000164694 NA synonymous SNV ENSG00000164694:ENST00000340366:exon10:c.G2754T:p.P918P,ENSG00000164694:ENST00000297267:exon11:c.G2943T:p.P981P NA NA 6q25.3 Score=754;Name=V$NRSF_01 NA NA NA rs404435 0.8 0.8 0.825 0.786542 0.9085 0.626 0.8646 0.7148 0.8681 0.92 0.64 0.89 0.75 0.8665 0.92 . . . . . . . . 1.000 P . . . . -1.042 T 0.014 T . 0.219 5.184 -7.65 -2.425 -1.283 3.112 0.219485 NA NA 0.896966 0.756954 NA 0.819 NA 7.9947006 861 2 216298084 216298084 G A exonic FN1 NA synonymous SNV FN1:NM_002026:exon3:c.C378T:p.I126I,FN1:NM_054034:exon3:c.C378T:p.I126I,FN1:NM_212474:exon3:c.C378T:p.I126I,FN1:NM_212476:exon3:c.C378T:p.I126I,FN1:NM_212478:exon3:c.C378T:p.I126I,FN1:NM_212482:exon3:c.C378T:p.I126I exonic ENSG00000115414 NA synonymous SNV ENSG00000115414:ENST00000323926:exon3:c.C378T:p.I126I,ENSG00000115414:ENST00000336916:exon3:c.C378T:p.I126I,ENSG00000115414:ENST00000345488:exon3:c.C378T:p.I126I,ENSG00000115414:ENST00000346544:exon3:c.C378T:p.I126I,ENSG00000115414:ENST00000354785:exon3:c.C378T:p.I126I,ENSG00000115414:ENST00000356005:exon3:c.C378T:p.I126I,ENSG00000115414:ENST00000357009:exon3:c.C378T:p.I126I,ENSG00000115414:ENST00000357867:exon3:c.C378T:p.I126I,ENSG00000115414:ENST00000359671:exon3:c.C378T:p.I126I,ENSG00000115414:ENST00000421182:exon3:c.C378T:p.I126I,ENSG00000115414:ENST00000426059:exon3:c.C378T:p.I126I,ENSG00000115414:ENST00000432072:exon3:c.C378T:p.I126I,ENSG00000115414:ENST00000443816:exon3:c.C378T:p.I126I,ENSG00000115414:ENST00000446046:exon3:c.C378T:p.I126I Score=601;Name=lod=370 NA 2q35 NA Name=HEY1,Pol2 Name=12 NA rs2289202 0.17 0.17 0.166 0.144169 0.2445 0.001 0.1427 0.2549 0.0399 0.26 0.0017 0.17 0.24 0.184 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.832623 1.832623 NA 0.24407 0.240127 NA 0.174 NA 7.9940966 861 22 42522613 42522613 G C exonic CYP2D6 NA nonsynonymous SNV CYP2D6:NM_001025161:exon8:c.C1304G:p.T435S,CYP2D6:NM_000106:exon9:c.C1457G:p.T486S exonic ENSG00000100197 NA nonsynonymous SNV ENSG00000100197:ENST00000359033:exon8:c.C1304G:p.T435S,ENSG00000100197:ENST00000360608:exon9:c.C1457G:p.T486S,ENSG00000100197:ENST00000389970:exon10:c.C1457G:p.T486S NA NA 22q13.2 NA NA NA NA rs1135840 0.4 0.4 0.362 0.401158 0.4543 0.2956 0.5245 0.3238 0.4724 0.45 0.33 0.52 0.32 0.4556 0.52 0.77 T 0.02 B 0.023 B 0.567 N 1.000 P . . 5.1 T -0.989 T 0.000 T 0.109 -0.179 3.127 -2.65 -0.465 0.361 5.256 -0.179188 NA 0.48 0.431131 0.363595 ID=COSM1599976,COSM1599977;OCCURENCE=1(central_nervous_system) 0.283 CLINSIG=pathogenic;CLNDBN=Debrisoquine\x2c_ultrarapid_metabolism_of;CLNREVSTAT=single;CLNACC=RCV000018391.26;CLNDSDB=MedGen;CLNDSDBID=C1837157 7.9923024 861 2 97559759 97559759 G A exonic FAM178B NA synonymous SNV FAM178B:NM_001172667:exon2:c.C57T:p.L19L,FAM178B:NM_001122646:exon14:c.C1680T:p.L560L exonic ENSG00000168754 NA synonymous SNV ENSG00000168754:ENST00000327896:exon14:c.C1584T:p.L528L,ENSG00000168754:ENST00000490605:exon14:c.C1680T:p.L560L,ENSG00000168754:ENST00000417561:exon18:c.C2124T:p.L708L Score=389;Name=lod=51 NA 2q11.2 Score=810;Name=V$SRF_C Name=ZNF263 NA NA rs11677797 0.37 0.37 0.323 0.428514 0.1491 0.6766 0.4424 0.236 0.7106 0.17 0.68 0.42 0.29 0.3427 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.25122 1.25122 NA 0.182876 0.254768 NA 0.304 NA 7.9919906 861 17 26691321 26691321 A G exonic SEBOX NA nonsynonymous SNV SEBOX:NM_001080837:exon3:c.T620C:p.L207S exonic ENSG00000109072 NA nonsynonymous SNV ENSG00000109072:ENST00000431468:exon3:c.T620C:p.L207S,ENSG00000109072:ENST00000438614:exon4:c.T617C:p.L206S,ENSG00000109072:ENST00000536498:exon10:c.T617C:p.L206S NA NA 17q11.2 NA NA NA NA rs9910163 0.87 0.87 0.885 0.879193 0.7584 0.9921 0.7651 0.9887 0.82 0.74 0.99 0.79 0.98 0.8073 0.99 0.93 T 0.001 B 0.0 B 0.063 N 0.984 P -0.975 N -2.72 D -0.922 T 0.000 T 0.169 -1.685 0.012 2.09 0.080 1.886 12.953 -1.684992 NA 0.59 0.776674 0.95877 NA 0.891 NA 7.9909594 861 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 861 4 155295076 155295076 A G exonic DCHS2 NA nonsynonymous SNV DCHS2:NM_017639:exon4:c.T458C:p.V153A exonic ENSG00000197410 NA nonsynonymous SNV ENSG00000197410:ENST00000357232:exon4:c.T458C:p.V153A NA NA 4q31.3 NA NA NA NA rs11721758 0.37 0.37 0.347 0.348842 0.4851 0.3938 0.3646 0.1362 0.4387 0.49 0.38 0.42 0.14 0.4061 0.49 0.04 D 0.0 B 0.002 B 0.386 N 1.000 P 0.235 N 0.66 T -0.929 T 0.000 T 0.053 0.988 9.034 -2.66 -0.511 0.317 5.159 0.987982 NA 0.05 0.451628 0.188153 NA 0.536 NA 7.9905054 861 19 9048035 9048035 G C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon5:c.C33596G:p.A11199G exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon5:c.C33596G:p.A11199G NA NA 19p13.2 NA NA NA NA rs10417358 0.19 0.19 0.192 0.189497 0.2823 0.0258 0.1988 0.1982 0.2444 0.29 0.02 0.21 0.21 0.2582 0.3 0 D 0.478 P 0.351 B . . . . 0.69 N 4.17 T -0.869 T 0.000 T 0.078 1.225 9.969 1.44 0.586 0.657 5.691 1.225012 NA 0.15 0.302432 0.192682 NA 0.268 NA 7.9904014 861 19 44612231 44612231 A G exonic ZNF224 NA nonsynonymous SNV ZNF224:NM_013398:exon6:c.A1918G:p.K640E exonic ENSG00000267680 NA nonsynonymous SNV ENSG00000267680:ENST00000336976:exon6:c.A1918G:p.K640E NA NA 19q13.31 NA Name=SETDB1 NA NA rs3746319 0.63 0.63 0.649 0.601238 0.8091 0.5357 0.5259 0.4675 0.6892 0.8 0.54 0.6 0.52 0.7154 0.82 0.38 T 0.03 B 0.021 B . . 1.000 P 1.6 L 3.38 T -1.038 T 0.000 T 0.056 0.932 8.797 -4.31 -0.847 -2.663 9.908 0.931901 NA 0.58 0.818721 0.509079 NA 0.732 NA 7.9901124 861 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=SETDB1,KAP1 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 861 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 861 11 102477377 102477377 G T exonic MMP20 NA nonsynonymous SNV MMP20:NM_004771:exon6:c.C842A:p.T281N exonic ENSG00000137674 NA nonsynonymous SNV ENSG00000137674:ENST00000260228:exon6:c.C842A:p.T281N NA NA 11q22.2 Score=834;Name=V$NFKB_Q6 NA NA NA rs1784424 0.4 0.4 0.378 0.419928 0.4364 0.4325 0.4424 0.2625 0.5869 0.43 0.43 0.47 0.26 0.4517 0.47 0.52 T 0.0 B 0.001 B 0.063 N 1.000 P 1.04 L 2.5 T -0.920 T 0.000 T 0.026 -1.363 0.027 2.3 0.417 0.646 8.178 -1.362562 NA 0.59 0.456618 0.30867 NA 0.5 NA 7.9886154 861 20 31619500 31619500 C T exonic BPIFB6 NA nonsynonymous SNV BPIFB6:NM_174897:exon1:c.C47T:p.T16M exonic ENSG00000167104 NA nonsynonymous SNV ENSG00000167104:ENST00000349552:exon1:c.C47T:p.T16M,ENSG00000167104:ENST00000542375:exon1:c.C47T:p.T16M NA NA 20q11.21 Score=841;Name=V$AHRARNT_01 NA NA NA rs17301126 0.08 0.08 0.076 0.0694888 0.1203 0.0347 0.0735 0.0658 0.0552 0.13 0.04 0.08 0.05 0.097 0.13 0.06 T 0.033 B 0.01 B 0.615 N 1.000 P 1.79 L 5.0 T -0.948 T 0.000 T 0.065 0.893 8.626 0.681 0.144 0.012 7.643 0.892643 NA 0.13 0.128372 0.069224 ID=COSM443647;OCCURENCE=1(breast),1(large_intestine) 0.072 NA 7.9876614 861 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 861 6 32261507 32261507 T C exonic C6orf10 NA unknown UNKNOWN exonic ENSG00000204296 NA nonsynonymous SNV ENSG00000204296:ENST00000375007:exon23:c.A937G:p.I313V,ENSG00000204296:ENST00000447241:exon23:c.A943G:p.I315V,ENSG00000204296:ENST00000527965:exon24:c.A895G:p.I299V,ENSG00000204296:ENST00000442822:exon25:c.A916G:p.I306V,ENSG00000204296:ENST00000375015:exon26:c.A940G:p.I314V,ENSG00000204296:ENST00000533191:exon26:c.A937G:p.I313V NA NA 6p21.32 NA NA NA NA rs3749966 0.25 0.25 0.252 0.258187 0.2366 0.2371 0.1354 0.3548 0.2587 0.25 0.2 0.16 0.37 0.2199 0.37 0.85 T 0.0 B 0.001 B . . 1.000 P -0.405 N 3.78 T -0.992 T 0.012 T 0.376 -1.257 0.049 -3.56 -1.420 -0.546 5.692 -1.257095 NA 0.49 0.224252 0.331238 NA 0.254 NA 7.9859147 861 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 861 2 227892720 227892720 C T exonic COL4A4 NA nonsynonymous SNV COL4A4:NM_000092:exon42:c.G3979A:p.V1327M exonic ENSG00000081052 NA nonsynonymous SNV ENSG00000081052:ENST00000329662:exon42:c.G3979A:p.V1327M,ENSG00000081052:ENST00000396625:exon42:c.G3979A:p.V1327M Score=389;Name=lod=51 NA 2q36.3 NA NA NA NA rs2229813 0.45 0.45 0.427 0.493011 0.4384 0.4028 0.4784 0.5651 0.5552 0.44 0.4 0.47 0.52 0.4879 0.53 0.18 T 0.0 B 0.004 B . . 1.000 P -0.79 N -3.25 D -0.943 T 0.000 T 0.098 -0.159 3.225 1.6 -0.132 -0.140 8.033 -0.158751 NA 0.17 0.421917 0.528111 NA 0.464 NA 7.9851164 862 16 84028014 84028014 C G exonic NECAB2 NA nonsynonymous SNV NECAB2:NM_019065:exon7:c.C704G:p.T235S exonic ENSG00000103154 NA nonsynonymous SNV ENSG00000103154:ENST00000565691:exon5:c.C455G:p.T152S,ENSG00000103154:ENST00000566836:exon5:c.C377G:p.T126S,ENSG00000103154:ENST00000305202:exon7:c.C704G:p.T235S NA NA 16q23.3 NA NA NA NA rs2292324 0.2 0.2 0.2 0.224042 0.1103 0.125 0.2017 0.4781 0.1155 0.1 0.12 0.2 0.44 0.1417 0.44 1 T 0.0 B 0.0 B 0.093 N 1.000 P -1.7 N 2.35 T -0.922 T 0.000 T 0.028 -0.64 1.174 3.6 0.437 0.389 4.467 -0.640164 NA 0.79 0.097093 0.436591 ID=COSM148125;OCCURENCE=1(stomach) 0.297 NA 7.9842404 862 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 862 11 6239139 6239139 A G exonic FAM160A2 NA synonymous SNV FAM160A2:NM_001098794:exon9:c.T1677C:p.R559R,FAM160A2:NM_032127:exon9:c.T1719C:p.R573R exonic ENSG00000051009 NA synonymous SNV ENSG00000051009:ENST00000265978:exon9:c.T1719C:p.R573R,ENSG00000051009:ENST00000449352:exon9:c.T1677C:p.R559R,ENSG00000051009:ENST00000524416:exon9:c.T1677C:p.R559R Score=697;Name=lod=911 NA 11p15.4 Score=791;Name=V$BACH1_01 NA Name=3 NA rs11040809 0.11 0.11 0.115 0.109225 0.2336 0.0456 0.1167 0.0106 0.1748 0.23 0.03 0.13 0.01 0.1974 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521002 NA NA 0.253259 0.047024 NA 0.101 NA 7.9824076 862 14 23598952 23598952 A G exonic SLC7A8 NA synonymous SNV SLC7A8:NM_001267037:exon6:c.T498C:p.Y166Y,SLC7A8:NM_001267036:exon7:c.T855C:p.Y285Y,SLC7A8:NM_182728:exon7:c.T561C:p.Y187Y,SLC7A8:NM_012244:exon9:c.T1170C:p.Y390Y exonic ENSG00000092068 NA synonymous SNV ENSG00000092068:ENST00000422941:exon6:c.T498C:p.Y166Y,ENSG00000092068:ENST00000453702:exon7:c.T561C:p.Y187Y,ENSG00000092068:ENST00000529705:exon7:c.T855C:p.Y285Y,ENSG00000092068:ENST00000316902:exon9:c.T1170C:p.Y390Y Score=606;Name=lod=388 NA 14q11.2 NA NA NA NA rs7157021 0.66 0.66 0.666 0.670927 0.5378 0.8075 0.6931 0.7201 0.5849 0.54 0.8 0.63 0.71 0.6096 0.8 0.13 T . . . . . . 0.000 P . . . . -1.017 T 0.000 T . 0.975 8.978 -3.17 -1.484 -0.777 14.873 0.974549 NA 0.75 0.536977 0.685656 NA 0.536 NA 7.9822896 862 11 85436868 85436868 G C exonic SYTL2 NA nonsynonymous SNV SYTL2:NM_206927:exon1:c.C632G:p.A211G,SYTL2:NM_206928:exon1:c.C632G:p.A211G exonic ENSG00000137501 NA nonsynonymous SNV ENSG00000137501:ENST00000354566:exon1:c.C632G:p.A211G,ENSG00000137501:ENST00000359152:exon1:c.C2204G:p.A735G,ENSG00000137501:ENST00000389959:exon1:c.C632G:p.A211G,ENSG00000137501:ENST00000525423:exon1:c.C632G:p.A211G NA NA 11q14.1 NA NA Name=13 NA rs597480 0.55 0.55 0.535 0.521765 0.6282 0.5972 0.4986 0.4077 0.5051 0.63 0.56 0.54 0.42 0.5919 0.63 . . 0.592 P 0.322 B 0.005 N 1.000 P 0.895 L 1.41 T -0.971 T 0.000 T 0.066 1.71 11.68 2.97 0.849 0.469 5.161 1.709859 1.709859 0.08 0.63224 0.437358 NA 0.348 NA 7.9809934 862 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=BAF155,Egr-1,TBP,NRSF,BAF170,TCF4,HEY1,Pol2-4H8,TAF1,Pol2 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 862 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 862 1 17405809 17405809 G A exonic PADI2 NA synonymous SNV PADI2:NM_007365:exon11:c.C1260T:p.N420N exonic ENSG00000117115 NA synonymous SNV ENSG00000117115:ENST00000444885:exon8:c.C912T:p.N304N,ENSG00000117115:ENST00000375481:exon11:c.C1260T:p.N420N,ENSG00000117115:ENST00000375486:exon11:c.C1260T:p.N420N Score=414;Name=lod=64 NA 1p36.13 Score=790;Name=V$CMYB_01 Name=BATF Name=5 NA rs2057096 0.47 0.47 0.479 0.434505 0.5726 0.3879 0.5259 0.295 0.4642 0.58 0.43 0.52 0.3 0.5377 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.120064 NA NA 0.57814 0.361552 NA 0.551 NA 7.9782266 862 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 862 20 62328742 62328742 C T exonic TNFRSF6B NA synonymous SNV TNFRSF6B:NM_003823:exon2:c.C486T:p.S162S exonic ENSG00000243509 NA synonymous SNV ENSG00000243509:ENST00000369996:exon2:c.C486T:p.S162S Score=289;Name=lod=20 NA 20q13.33 NA Name=Pol2 Name=18 NA rs909341 0.28 0.28 0.227 0.261781 0.2018 0.6468 0.2637 0.0242 0.2464 0.22 0.65 0.2 0.03 0.2587 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.26368 2.26368 NA 0.228515 0.069693 ID=COSM1178475;OCCURENCE=1(prostate),1(large_intestine) 0.13 NA 7.9776516 862 17 10614442 10614442 A G exonic ADPRM NA nonsynonymous SNV ADPRM:NM_020233:exon4:c.A1010G:p.E337G exonic ENSG00000170222 NA nonsynonymous SNV ENSG00000170222:ENST00000379774:exon4:c.A1010G:p.E337G NA NA 17p13.1 NA NA NA NA rs406446 0.47 0.47 0.475 0.48722 0.4751 0.3938 0.4409 0.6853 0.3609 0.45 0.37 0.44 0.65 0.4396 0.65 0.1 T 0.18 B 0.035 B 0.849 N 0.000 P 1.1 L 1.43 T -0.942 T 0.000 T 0.052 1.442 10.76 5.15 2.163 0.796 12.589 1.441681 1.441681 0 0.44186 0.649796 NA 0.435 NA 7.9767734 862 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 862 8 104427359 104427359 A C exonic DCAF13 NA nonsynonymous SNV DCAF13:NM_015420:exon1:c.A141C:p.R47S exonic ENSG00000164934 NA nonsynonymous SNV ENSG00000164934:ENST00000297579:exon1:c.A141C:p.R47S NA NA 8q22.3 NA Name=ELK4,Pol2(b),TBP,c-Myc,IRF1,SP1,TAF1,EBF1_(C-8),Pol2-4H8,HEY1,KAP1,ELF1_(SC-631),GATA-1,Pol2,Pol2(phosphoS2) NA NA rs3134295 0.45 0.45 0.45 0.428315 0.4722 0.3462 0.4294 0.4985 0.3722 0.48 0.35 0.47 0.5 0.4406 0.5 1 T . . . . . . 1.000 P . . -1.06 T -0.982 T 0.000 T 0.006 -0.209 2.986 0.973 0.137 -3.250 2.054 -0.209151 NA 1 0.444767 0.496142 ID=COSM453777;OCCURENCE=1(breast) 0.471 NA 7.9757664 862 20 62328829 62328829 C G exonic TNFRSF6B NA synonymous SNV TNFRSF6B:NM_003823:exon2:c.C573G:p.T191T exonic ENSG00000243509 NA synonymous SNV ENSG00000243509:ENST00000369996:exon2:c.C573G:p.T191T Score=355;Name=lod=37 NA 20q13.33 NA Name=CTCF,Pol2 Name=18 NA rs1291205 0.29 0.29 0.229 0.263578 0.2038 0.6468 0.2637 0.0242 0.2536 0.22 0.65 0.2 0.03 0.267 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.016451 NA NA 0.220661 0.068623 ID=COSM1413174;OCCURENCE=1(large_intestine) 0.138 NA 7.9752056 863 17 617869 617869 G A exonic VPS53 NA synonymous SNV VPS53:NM_001128159:exon1:c.C81T:p.I27I,VPS53:NM_018289:exon1:c.C81T:p.I27I exonic ENSG00000141252 NA synonymous SNV ENSG00000141252:ENST00000291074:exon1:c.C81T:p.I27I,ENSG00000141252:ENST00000389040:exon1:c.C81T:p.I27I,ENSG00000141252:ENST00000401468:exon1:c.C81T:p.I27I,ENSG00000141252:ENST00000437048:exon1:c.C81T:p.I27I,ENSG00000141252:ENST00000571805:exon1:c.C81T:p.I27I,ENSG00000141252:ENST00000573028:exon1:c.C81T:p.I27I,ENSG00000141252:ENST00000574029:exon1:c.C81T:p.I27I Score=458;Name=lod=97 NA 17p13.3 Score=861;Name=V$CDPCR1_01 Name=CtBP2,Pol2 NA NA rs11558129 0.14 0.14 0.15 0.145367 0.2356 0.0248 0.2435 0.0265 0.2679 0.24 0.03 0.23 0.03 0.2085 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.107854 2.107854 NA 0.248023 0.054471 NA 0.159 NA 7.9745436 863 2 128283747 128283747 C G intronic IWS1 NA NA NA intronic ENSG00000163166 NA NA NA Score=436;Name=lod=79 NA 2q14.3 Score=909;Name=V$AREB6_01 Name=c-Myc,ZBTB7A_(SC-34508),Egr-1,USF1_(SC-8983),USF-1,Pol2-4H8 Name=16 NA rs138706801 0.0027 0.0027 0.003 0.00219649 0.0089 NA NA 0.0008 0.001 0.01 0.0017 NA NA 0.0079 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 2.421984 2.421984 NA 0.009667 0 NA 0.014 NA 7.973533 863 1 179310262 179310262 C T exonic SOAT1 NA synonymous SNV SOAT1:NM_001252511:exon6:c.C423T:p.P141P,SOAT1:NM_001252512:exon6:c.C402T:p.P134P,SOAT1:NM_003101:exon7:c.C597T:p.P199P exonic ENSG00000057252 NA synonymous SNV ENSG00000057252:ENST00000539888:exon6:c.C402T:p.P134P,ENSG00000057252:ENST00000540564:exon6:c.C423T:p.P141P,ENSG00000057252:ENST00000367619:exon7:c.C597T:p.P199P,ENSG00000057252:ENST00000426956:exon7:c.C597T:p.P199P Score=378;Name=lod=46 NA 1q25.2 NA Name=PU.1 Name=3 NA rs11576517 0.29 0.29 0.253 0.282348 0.2406 0.4782 0.2406 0.1354 0.3517 0.25 0.51 0.25 0.14 0.2415 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.765391 NA NA 0.21186 0.13527 ID=COSM146697;OCCURENCE=1(stomach) 0.348 NA 7.9727066 863 19 46216642 46216642 G T exonic FBXO46 NA nonsynonymous SNV FBXO46:NM_001080469:exon2:c.C112A:p.P38T exonic ENSG00000177051 NA nonsynonymous SNV ENSG00000177051:ENST00000317683:exon2:c.C112A:p.P38T,ENSG00000177051:ENST00000586899:exon2:c.C112A:p.P38T NA NA 19q13.32 NA NA NA NA rs11537711 0.1 0.1 0.115 0.117013 0.1123 0.0833 0.1441 0.1082 0.1493 0.11 0.07 0.12 0.09 0.126 0.12 0.51 T 0.0 B 0.001 B . . 0.997 P 0 N . . -1.012 T 0.001 T 0.038 -3.275 0.001 -2.8 -0.539 -0.721 0.581 -3.274999 NA 0.59 0.12238 0.116366 NA 0.065 NA 7.9726534 863 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 863 19 17395003 17395003 A G exonic ANKLE1 NA nonsynonymous SNV ANKLE1:NM_152363:exon6:c.A1304G:p.Q435R exonic ENSG00000160117 NA nonsynonymous SNV ENSG00000160117:ENST00000394458:exon6:c.A1304G:p.Q435R,ENSG00000160117:ENST00000404085:exon6:c.A1292G:p.Q431R,ENSG00000160117:ENST00000594072:exon6:c.A1193G:p.Q398R,ENSG00000160117:ENST00000598347:exon6:c.A1226G:p.Q409R Score=399;Name=lod=56 NA 19p13.11 NA NA NA NA rs11086065 0.64 0.64 0.653 0.635184 0.834 0.3125 0.5533 0.798 0.6012 0.84 0.29 0.6 0.78 0.7206 0.84 1 T 0.004 B 0.002 B 0.636 N 0.816 P 0.215 N -0.54 T -0.963 T 0.000 T 0.252 -1.773 0.01 -7.51 -1.998 -0.067 16.297 -1.77258 NA 1 0.807791 0.787335 NA 0.37 NA 7.9709424 863 19 49244220 49244220 G A exonic IZUMO1 NA nonsynonymous SNV IZUMO1:NM_182575:exon10:c.C998T:p.A333V exonic ENSG00000182264 NA nonsynonymous SNV ENSG00000182264:ENST00000332955:exon10:c.C998T:p.A333V NA NA 19q13.33 NA Name=eGFP-JunD Name=21 NA rs2307019 0.46 0.46 0.492 0.513778 0.4473 0.8323 0.5461 0.3162 0.498 0.37 0.74 0.49 0.25 0.4787 0.74 0.46 T 0.001 B 0.001 B 0.102 N 1.000 P 0.895 L 1.77 T -0.955 T 0.000 T 0.057 0.986 9.027 -0.804 -0.225 -0.272 5.006 0.986244 NA 0.81 0.436395 0.322969 NA NA NA 7.9709384 863 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 863 19 9075969 9075969 C T exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.G11477A:p.G3826E exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G11477A:p.G3826E NA NA 19p13.2 NA NA NA NA rs2591593 0.25 0.25 0.237 0.248203 0.3121 0.249 0.2118 0.2005 0.272 0.31 0.21 0.24 0.22 0.2629 0.31 0 D 0.628 P 0.087 B . . . . 0 N 3.89 T -0.891 T 0.000 T 0.05 0.07 4.377 -0.571 -0.095 -0.107 4.029 0.069544 NA 0.06 0.287836 0.206897 ID=COSM148493,COSM148494;OCCURENCE=1(stomach) 0.254 NA 7.9704974 863 X 34149267 34149267 C A exonic FAM47A NA nonsynonymous SNV FAM47A:NM_203408:exon1:c.G1129T:p.A377S exonic ENSG00000185448 NA nonsynonymous SNV ENSG00000185448:ENST00000346193:exon1:c.G1129T:p.A377S NA NA Xp21.1 NA NA NA NA rs1811716 0.24 0.24 0.23291 NA NA NA NA NA NA 0.16 0.28 0.16 0.37 0.1989 0.39 0.25 T 0.001 B 0.002 B . . 1.000 P -1.04 N 2.57 T -0.920 T 0.000 T 0.034 -1.449 0.019 -0.452 -3.949 -2.597 . -1.448633 NA 0.62 0.164561 0.385681 NA 0.181 NA 7.9698724 863 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 863 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 863 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 863 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 863 11 85627108 85627108 T C exonic CCDC83 NA synonymous SNV CCDC83:NM_173556:exon11:c.T1005C:p.S335S exonic ENSG00000150676 NA synonymous SNV ENSG00000150676:ENST00000376067:exon9:c.T612C:p.S204S,ENSG00000150676:ENST00000342404:exon10:c.T912C:p.S304S,ENSG00000150676:ENST00000280245:exon11:c.T1005C:p.S335S NA NA 11q14.2 NA NA NA NA rs7927222 0.15 0.15 0.13 0.125998 0.2604 NA 0.1585 0.1399 0.0757 0.26 NA 0.18 0.12 0.1943 0.26 . . . . . . . . 1.000 P . . . . -1.042 T 0.000 T . 0.165 4.888 -10.3 -1.808 -1.837 4.557 0.165049 NA NA 0.244941 0.15025 NA 0.188 NA 7.9670256 864 6 109954518 109954518 T C exonic AK9 NA synonymous SNV AK9:NM_001145128:exon11:c.A942G:p.L314L,AK9:NM_145025:exon11:c.A942G:p.L314L exonic ENSG00000155085 NA synonymous SNV ENSG00000155085:ENST00000285397:exon11:c.A942G:p.L314L,ENSG00000155085:ENST00000368948:exon11:c.A942G:p.L314L,ENSG00000155085:ENST00000424296:exon11:c.A942G:p.L314L NA NA 6q21 NA NA NA NA rs9374111 0.22 0.22 0.203 0.244409 0.2197 0.3433 0.2839 0.1097 0.3221 0.22 0.28 0.26 0.11 0.2522 0.28 . . . . . . . . 0.000 P . . . . -0.984 T 0.017 T . -0.069 3.665 -4.37 -0.398 -0.982 2.143 -0.068715 NA NA 0.230098 0.126419 ID=COSM150161,COSM150162;OCCURENCE=1(stomach) 0.181 NA 7.9646686 864 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 864 12 6646320 6646320 T C exonic GAPDH NA synonymous SNV GAPDH:NM_001256799:exon5:c.T255C:p.D85D,GAPDH:NM_002046:exon6:c.T381C:p.D127D exonic ENSG00000111640 NA synonymous SNV ENSG00000111640:ENST00000396858:exon5:c.T255C:p.D85D,ENSG00000111640:ENST00000396859:exon5:c.T381C:p.D127D,ENSG00000111640:ENST00000229239:exon6:c.T381C:p.D127D,ENSG00000111640:ENST00000396856:exon6:c.T156C:p.D52D,ENSG00000111640:ENST00000396861:exon6:c.T381C:p.D127D Score=523;Name=lod=178 NA 12p13.31 NA Name=Pol2,Pol2-4H8,SP1,ZBTB33,PAX5-C20,Sin3Ak-20,SIX5,PAX5-N19 Name=30 NA rs1065691 0.38 0.38 0.37 0.404952 0.2217 0.5188 0.3112 0.5651 0.3262 0.23 0.52 0.27 0.52 0.2774 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.133483 NA 0 0.20407 0.47163 NA 0.362 NA 7.9634966 864 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 864 14 105416220 105416220 T A exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.A5568T:p.E1856D exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.A5568T:p.E1856D NA NA 14q32.33 NA NA NA NA rs2819435 0.75 0.75 0.764 0.721845 0.7853 0.6121 0.6614 0.7315 0.7996 0.78 0.57 0.69 0.96 0.7621 0.96 1 T 0.0 B 0.002 B . . 1.000 P -0.625 N 6.69 T -0.837 T 0.000 T 0.032 -2.335 0.004 -8.02 -6.355 -10.090 0.662 -2.335091 NA 1 0.824239 0.948152 NA 0.616 NA 7.9616944 864 19 35660508 35660508 G A exonic FXYD5 NA nonsynonymous SNV FXYD5:NM_001164605:exon9:c.G527A:p.R176H,FXYD5:NM_014164:exon9:c.G527A:p.R176H,FXYD5:NM_144779:exon9:c.G527A:p.R176H exonic ENSG00000089327 NA nonsynonymous SNV ENSG00000089327:ENST00000392217:exon4:c.G314A:p.R105H,ENSG00000089327:ENST00000342879:exon8:c.G527A:p.R176H,ENSG00000089327:ENST00000392219:exon9:c.G527A:p.R176H,ENSG00000089327:ENST00000423817:exon9:c.G527A:p.R176H,ENSG00000089327:ENST00000541435:exon9:c.G527A:p.R176H,ENSG00000089327:ENST00000590686:exon9:c.G527A:p.R176H NA NA 19q13.12 NA NA NA NA rs12110 0.84 0.84 0.847 0.874002 0.7823 0.7927 0.889 0.9743 0.9059 0.77 0.8 0.88 0.97 0.8115 0.97 0.5 T 0.001 B 0.001 B 0.007 N 1.000 P 1.5 L 0.71 T -0.949 T 0.000 T 0.056 0.474 6.573 -3.28 -1.087 -1.804 7.944 0.47413 NA 0.37 0.777907 0.945756 NA 0.964 NA 7.9616264 864 2 73226090 73226090 G A exonic SFXN5 NA synonymous SNV SFXN5:NM_144579:exon9:c.C522T:p.A174A exonic ENSG00000144040 NA synonymous SNV ENSG00000144040:ENST00000442582:exon8:c.C459T:p.A153A,ENSG00000144040:ENST00000272433:exon9:c.C522T:p.A174A,ENSG00000144040:ENST00000410065:exon9:c.C522T:p.A174A NA NA 2p13.2 NA NA NA NA rs12233055 0.35 0.35 0.361 0.33726 0.2197 0.4931 0.2795 0.4259 0.2188 0.23 0.49 0.28 0.45 0.2649 0.49 . . . . . . . . 0.000 P . . . . -1.062 T 0.000 T . 0.88 8.569 -12.1 -2.225 -1.585 12.589 0.879549 NA 0 0.220581 0.417839 NA 0.319 NA 7.9614856 864 20 62737568 62737568 T C exonic NPBWR2 NA nonsynonymous SNV NPBWR2:NM_005286:exon1:c.A617G:p.Q206R exonic ENSG00000125522 NA nonsynonymous SNV ENSG00000125522:ENST00000369768:exon1:c.A617G:p.Q206R Score=535;Name=lod=199 NA 20q13.33 NA NA NA NA rs4809401 0.09 0.09 0.071 0.0886581 0.1431 0.0863 0.0937 0.0227 0.1207 0.14 0.08 0.1 0.03 0.1075 0.14 0.71 T 0.0 B 0.001 B 0.012 N 1.000 P -0.49 N 1.25 T -0.989 T 0.000 T 0.015 -0.751 0.815 0.669 -0.505 -0.290 8.207 -0.750803 NA 0.78 0.121971 0.038409 ID=COSM444250;OCCURENCE=1(breast) 0.167 NA 7.9607624 864 2 67631831 67631831 G A exonic ETAA1 NA nonsynonymous SNV ETAA1:NM_019002:exon5:c.G2017A:p.E673K exonic ENSG00000143971 NA nonsynonymous SNV ENSG00000143971:ENST00000272342:exon5:c.G2017A:p.E673K NA NA 2p14 NA NA NA NA rs61740794 0.46 0.46 0.431 0.455671 0.4692 0.505 0.5403 0.348 0.4765 0.47 0.5 0.51 0.35 0.4531 0.51 1 T 0.001 B 0.0 B 0.986 N 1.000 P -0.41 N 2.43 T -0.920 T 0.000 T 0.023 -0.712 0.934 2.87 0.998 0.820 5.724 -0.711877 NA 1 0.450465 0.339237 ID=COSM148868;OCCURENCE=1(stomach) 0.399 NA 7.9605684 864 12 6647109 6647109 T C exonic GAPDH NA synonymous SNV GAPDH:NM_001256799:exon7:c.T759C:p.F253F,GAPDH:NM_002046:exon8:c.T885C:p.F295F exonic ENSG00000111640 NA synonymous SNV ENSG00000111640:ENST00000396858:exon7:c.T759C:p.F253F,ENSG00000111640:ENST00000396859:exon7:c.T885C:p.F295F,ENSG00000111640:ENST00000229239:exon8:c.T885C:p.F295F,ENSG00000111640:ENST00000396856:exon8:c.T660C:p.F220F,ENSG00000111640:ENST00000396861:exon8:c.T885C:p.F295F Score=643;Name=lod=548 NA 12p13.31 NA Name=SMC3_(ab9263),Rad21,SP1,SIX5,BCL3,EBF1_(C-8),CTCF_(SC-5916),Pol2-4H8,HEY1,ELF1_(SC-631),Pol2,USF-1,CTCF Name=147 NA rs1803621 0.39 0.39 0.361 0.414736 0.2217 0.5486 0.3228 0.5666 0.3354 0.23 0.54 0.28 0.53 0.2801 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.898178 NA NA 0.204445 0.465666 NA 0.384 NA 7.9604216 864 17 8157310 8157310 C T exonic PFAS NA nonsynonymous SNV PFAS:NM_012393:exon2:c.C55T:p.P19S exonic ENSG00000178921 NA nonsynonymous SNV ENSG00000178921:ENST00000314666:exon2:c.C55T:p.P19S,ENSG00000178921:ENST00000580356:exon2:c.C55T:p.P19S,ENSG00000178921:ENST00000581242:exon2:c.C55T:p.P19S,ENSG00000178921:ENST00000584044:exon2:c.C55T:p.P19S,ENSG00000178921:ENST00000585183:exon2:c.C55T:p.P19S NA NA 17p13.1 Score=730;Name=V$HOX13_01 Name=CTCF,CTCF_(SC-5916),CTCF_(C-20),Rad21 Name=34 NA rs9891699 0.68 0.68 0.65 0.634784 0.827 0.5595 0.7939 0.4531 0.6472 0.84 0.61 0.79 0.43 0.7432 0.84 0.59 T 0.0 B 0.0 B 0.058 N 1.000 P -1.04 N 1.04 T -1.038 T 0.000 T 0.176 -0.729 0.881 -1.22 -0.816 0.069 2.937 -0.728658 NA NA 0.802791 0.507036 NA 0.732 NA 7.9603424 864 8 144649968 144649968 C T exonic MROH6 NA nonsynonymous SNV MROH6:NM_001100878:exon12:c.G1855A:p.A619T exonic ENSG00000204839 NA nonsynonymous SNV ENSG00000204839:ENST00000398882:exon12:c.G1855A:p.A619T NA NA 8q24.3 NA NA NA NA rs13255489 0.81 0.81 0.801 0.797923 0.7724 0.9643 0.8516 0.6377 0.8313 0.78 0.98 0.86 0.61 0.8123 0.98 0.15 T 0.025 B 0.011 B . . 1.000 P 0.665 N 1.29 T -1.053 T 0.000 T 0.052 1.403 10.63 -2.57 -1.049 -1.013 5.194 1.403371 1.403371 0.36 0.788462 0.705593 NA 0.732 NA 7.9601714 864 4 68447040 68447040 C T exonic STAP1 NA synonymous SNV STAP1:NM_012108:exon5:c.C381T:p.N127N exonic ENSG00000035720 NA synonymous SNV ENSG00000035720:ENST00000265404:exon5:c.C381T:p.N127N,ENSG00000035720:ENST00000396225:exon5:c.C381T:p.N127N Score=531;Name=lod=191 NA 4q13.2 Score=803;Name=V$MYCMAX_03 Name=PU.1 NA NA rs11556615 0.14 0.14 0.131 0.125998 0.2475 0.005 0.1628 0.1135 0.1166 0.25 0.0017 0.19 0.12 0.1923 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457189 NA NA 0.266744 0.141625 NA 0.246 NA 7.9601226 864 22 44079680 44079680 G A exonic EFCAB6 NA nonsynonymous SNV EFCAB6:NM_198856:exon10:c.C742T:p.H248Y,EFCAB6:NM_022785:exon12:c.C1198T:p.H400Y exonic ENSG00000186976 NA nonsynonymous SNV ENSG00000186976:ENST00000396231:exon10:c.C742T:p.H248Y,ENSG00000186976:ENST00000262726:exon12:c.C1198T:p.H400Y NA NA 22q13.2 NA NA NA NA rs137794 0.1 0.1 0.089 0.0758786 0.1451 0.0119 0.1254 0.0726 0.0399 0.15 0.02 0.15 0.09 0.1029 0.15 0.89 T 0.13 B 0.126 B 0.764 N 1.000 P 0.49 N 2.37 T -0.981 T 0.000 T 0.046 0.15 4.808 -0.573 -0.083 0.950 3.467 0.150267 NA 0.7 0.125233 0.081934 NA 0.188 NA 7.9601004 864 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 864 3 122630346 122630346 T C exonic SEMA5B NA nonsynonymous SNV SEMA5B:NM_001256348:exon20:c.A2801G:p.D934G,SEMA5B:NM_001031702:exon21:c.A3083G:p.D1028G,SEMA5B:NM_001256346:exon21:c.A3083G:p.D1028G,SEMA5B:NM_001256347:exon21:c.A3245G:p.D1082G exonic ENSG00000082684 NA nonsynonymous SNV ENSG00000082684:ENST00000195173:exon21:c.A3077G:p.D1026G,ENSG00000082684:ENST00000357599:exon21:c.A3083G:p.D1028G,ENSG00000082684:ENST00000393583:exon21:c.A3083G:p.D1028G,ENSG00000082684:ENST00000451055:exon21:c.A3245G:p.D1082G,ENSG00000082684:ENST00000475244:exon21:c.A3083G:p.D1028G Score=524;Name=lod=179 NA 3q21.1 NA NA NA NA rs2303983 0.6 0.6 0.549 0.607827 0.8091 0.3571 0.6254 0.5575 0.7147 0.79 0.34 0.67 0.53 0.7347 0.83 0.31 T 0.0 B 0.001 B 0.667 N 1.000 P 0.345 N 1.47 T -1.040 T 0.000 T 0.29 -0.709 0.943 3.19 0.054 1.895 5.939 -0.708967 NA 0.39 0.831744 0.57921 NA 0.725 NA 7.9577894 864 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 864 3 52556890 52556890 A G exonic STAB1 NA nonsynonymous SNV STAB1:NM_015136:exon62:c.A6844G:p.I2282V exonic ENSG00000010327 NA nonsynonymous SNV ENSG00000010327:ENST00000321725:exon62:c.A6844G:p.I2282V Score=376;Name=lod=45 NA 3p21.1 NA NA NA NA rs4434138 0.42 0.42 0.427 0.341254 0.4732 0.4385 0.4957 0.1528 0.2505 0.47 0.5 0.5 0.18 0.4292 0.5 0.4 T 0.003 B 0.009 B 0.085 N 0.999 P -0.035 N 3.66 T -0.989 T 0.000 T 0.018 1.602 11.31 -0.467 -0.043 1.215 9.865 1.602172 1.602172 0.47 0.473256 0.187699 NA 0.232 NA 7.9576774 864 3 155485302 155485302 C T exonic C3orf33 NA nonsynonymous SNV C3orf33:NM_173657:exon5:c.G350A:p.S117N exonic ENSG00000174928 NA nonsynonymous SNV ENSG00000174928:ENST00000340171:exon4:c.G479A:p.S160N,ENSG00000174928:ENST00000534941:exon5:c.G350A:p.S117N Score=325;Name=lod=28 NA 3q25.31 NA NA NA NA rs358733 0.83 0.83 0.818 0.841054 0.7714 0.9117 0.8516 0.8343 0.8415 0.76 0.93 0.83 0.84 0.824 0.93 1 T 0.0 B 0.0 B 0.003 N 1.000 P -1.52 N 2.01 T -0.985 T 0.000 T 0.011 -0.671 1.068 4.05 0.847 2.956 7.139 -0.67085 NA 0.87 0.780601 0.825992 NA 0.848 NA 7.9573324 864 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 864 17 74287594 74287594 G A exonic QRICH2 NA nonsynonymous SNV QRICH2:NM_032134:exon4:c.C2716T:p.H906Y exonic ENSG00000129646 NA nonsynonymous SNV ENSG00000129646:ENST00000262765:exon4:c.C2716T:p.H906Y NA NA 17q25.1 NA NA NA NA rs2279054 0.4 0.4 0.429 0.407947 0.2704 0.5714 0.2925 0.4955 0.3446 0.25 0.58 0.28 0.51 0.3255 0.58 0.05 D 0.898 P 0.434 B . . 1.000 P 0.345 N 3.09 T -1.014 T 0.000 T 0.014 1.273 10.16 0.958 0.475 -0.210 6.476 1.273492 1.273492 0.21 0.280698 0.4798 ID=COSM1386176;OCCURENCE=1(large_intestine) 0.312 NA 7.9567354 864 10 70748784 70748784 G A exonic KIAA1279 NA nonsynonymous SNV KIAA1279:NM_015634:exon1:c.G196A:p.G66S exonic ENSG00000198954 NA nonsynonymous SNV ENSG00000198954:ENST00000361983:exon1:c.G196A:p.G66S NA NA 10q22.1 NA Name=Sin3Ak-20,ZNF263,BAF155,Pol2(b),AP-2gamma,CCNT2,AP-2alpha,Brg1,Pol2,HA-E2F1,ETS1,HMGN3 Name=60 NA rs2255607 0.4 0.4 0.392 0.353834 0.4811 0.3562 0.3156 0.329 0.2812 0.47 0.39 0.37 0.34 0.4137 0.48 0.75 T 0.0 B 0.001 B 0.059 N 1.000 P 0.205 N 1.0 T -0.927 T 0.000 T 0.026 -0.464 1.857 -0.111 -0.053 0.211 3.844 -0.463542 NA 0.26 0.483244 0.342034 NA 0.37 NA 7.9552894 864 18 42532606 42532606 G A exonic SETBP1 NA nonsynonymous SNV SETBP1:NM_015559:exon4:c.G3301A:p.V1101I exonic ENSG00000152217 NA nonsynonymous SNV ENSG00000152217:ENST00000282030:exon4:c.G3301A:p.V1101I NA NA 18q12.3 NA NA NA NA rs3744825 0.15 0.15 0.138 0.1248 0.1322 0.2659 0.0865 0.0356 0.1196 0.15 0.28 0.09 0.04 0.1212 0.28 0.46 T 0.052 B 0.014 B 0.037 N 0.279 P 0 N -0.33 T -1.031 T 0.000 T 0.074 0.031 4.173 -0.533 -0.157 1.206 6.388 0.03069 NA 0.34 0.124651 0.057195 ID=COSM148423;OCCURENCE=1(stomach) 0.08 NA 7.9552824 865 7 92734983 92734983 A G exonic SAMD9 NA nonsynonymous SNV SAMD9:NM_001193307:exon2:c.T428C:p.I143T,SAMD9:NM_017654:exon3:c.T428C:p.I143T exonic ENSG00000205413 NA nonsynonymous SNV ENSG00000205413:ENST00000446617:exon2:c.T428C:p.I143T,ENSG00000205413:ENST00000379958:exon3:c.T428C:p.I143T NA NA 7q21.2 NA NA NA NA rs6969691 0.17 0.17 0.17 0.152556 0.1292 0.1359 0.1268 0.2905 0.0256 0.12 0.16 0.14 0.3 0.1194 0.3 0.66 T 0.0 B 0.0 B . . 1.000 P -0.345 N 2.62 T -0.911 T 0.000 T 0.02 0.05 4.275 -4.02 -0.592 -0.406 5.298 0.050167 NA 0.07 0.129767 0.268498 NA 0.101 NA 7.9549664 865 16 81232564 81232564 T G exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon7:c.A1246C:p.K416Q exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000337114:exon7:c.A1246C:p.K416Q,ENSG00000269323:ENST00000599697:exon7:c.A1246C:p.K416Q NA NA 16q23.2 NA Name=GATA3_(SC-268),Rad21,SMC3_(ab9263),HNF4A_(H-171),CTCF,CTCF_(SC-5916) Name=25 NA rs7194871 0.82 0.82 0.825 0.787939 0.7863 0.9544 0.7896 0.7239 0.7035 0.8 0.96 0.79 0.73 0.7965 0.96 0.92 T 0.003 B 0.003 B 0.581 N 1.000 P . . 5.1 T -1.003 T 0.000 T 0.201 -0.232 2.88 2.15 0.198 0.483 9.262 -0.231983 NA 0.01 0.796167 0.741071 NA 0.768 NA 7.9543664 865 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 865 14 21623489 21623489 C T exonic OR5AU1 NA synonymous SNV OR5AU1:NM_001004731:exon1:c.G696A:p.G232G exonic ENSG00000169327 NA synonymous SNV ENSG00000169327:ENST00000304418:exon1:c.G696A:p.G232G Score=410;Name=lod=62 NA 14q11.2 Score=930;Name=V$ZIC1_01 NA Name=2 NA rs45462402 0.46 0.46 0.469 0.508586 0.2087 0.6607 0.389 0.7262 0.4509 0.2 0.66 0.35 0.69 0.316 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 -0.801807 NA NA 0.18814 0.655016 NA 0.384 NA 7.9538266 865 3 185990096 185990096 C T exonic DGKG NA nonsynonymous SNV DGKG:NM_001080744:exon11:c.G947A:p.R316K,DGKG:NM_001080745:exon11:c.G947A:p.R316K,DGKG:NM_001346:exon11:c.G947A:p.R316K exonic ENSG00000058866 NA nonsynonymous SNV ENSG00000058866:ENST00000437018:exon3:c.G200A:p.R67K,ENSG00000058866:ENST00000265022:exon11:c.G947A:p.R316K,ENSG00000058866:ENST00000344484:exon11:c.G947A:p.R316K,ENSG00000058866:ENST00000382164:exon11:c.G947A:p.R316K,ENSG00000058866:ENST00000544847:exon11:c.G947A:p.R316K Score=592;Name=lod=339 NA 3q27.2 NA NA NA NA rs2193587 0.82 0.82 0.805 0.808906 0.8002 0.744 0.8357 0.9191 0.7168 0.82 0.75 0.81 0.91 0.7935 0.91 1 T 0.0 B 0.003 B 0.000 N 1.000 P -0.86 N -3.01 D -0.938 T 0.000 T 0.045 0.359 5.951 3.92 0.471 0.838 8.269 0.359433 NA 1 0.787791 0.896732 ID=COSM1566524;OCCURENCE=1(large_intestine) 0.884 NA 7.9518424 865 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 865 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 865 19 58213952 58213952 C A exonic ZNF154 NA nonsynonymous SNV ZNF154:NM_001085384:exon3:c.G365T:p.G122V exonic ENSG00000179909 NA nonsynonymous SNV ENSG00000179909:ENST00000426889:exon3:c.G365T:p.G122V,ENSG00000179909:ENST00000451275:exon3:c.G365T:p.G122V,ENSG00000179909:ENST00000512439:exon3:c.G365T:p.G122V NA NA 19q13.43 NA NA NA NA rs2074078 0.21 0.21 0.183 0.166933 0.1173 0.3671 0.2435 0.084 0.0695 0.11 0.4 0.23 0.11 0.1441 0.4 0 D 0.022 B 0.012 B . . 1.000 P 1.885 L 3.28 T -0.923 T 0.000 T 0.031 -0.219 2.938 -1.45 -0.205 0.223 2.207 -0.219437 NA 0.5 0.123195 0.071972 NA 0.138 NA 7.9487384 865 3 119133183 119133183 G A exonic ARHGAP31 NA nonsynonymous SNV ARHGAP31:NM_020754:exon12:c.G2407A:p.G803S exonic ENSG00000031081 NA nonsynonymous SNV ENSG00000031081:ENST00000264245:exon12:c.G2407A:p.G803S NA NA 3q13.33 NA NA Name=7 NA rs3732413 0.83 0.83 0.861 0.845647 0.7853 0.8482 0.755 0.9266 0.8599 0.77 0.87 0.75 0.93 0.8083 0.93 1 T 0.0 B 0.0 B 0.994 N 1.000 P 0.255 N 3.49 T -0.977 T 0.000 T 0.017 1.138 9.638 -10.1 -3.054 -2.179 8.790 1.138205 NA 0.1 0.791474 0.919055 NA 0.761 NA 7.9482594 865 19 11465316 11465316 G C exonic CCDC159 NA nonsynonymous SNV CCDC159:NM_001080503:exon10:c.G833C:p.C278S exonic ENSG00000183401 NA nonsynonymous SNV ENSG00000183401:ENST00000591260:exon7:c.G539C:p.C180S,ENSG00000183401:ENST00000458408:exon10:c.G833C:p.C278S,ENSG00000183401:ENST00000588790:exon12:c.G833C:p.C278S NA NA 19p13.2 Score=757;Name=V$STAT5A_02 Name=CTCF,ZBTB7A_(SC-34508) NA NA rs6887 0.39 0.39 0.41 0.376597 0.4533 0.2788 0.3718 0.4486 0.3047 0.45 0.25 0.4 0.45 0.4671 0.47 0.77 T 0.0 B 0.0 B . . 1.000 P -1.5 N 1.08 T -0.914 T 0.000 T 0.014 -0.949 0.343 0.299 0.121 -0.055 8.676 -0.949288 NA 0.76 0.465051 0.4449 NA 0.37 NA 7.9478824 865 20 13912309 13912309 G A exonic SEL1L2 NA nonsynonymous SNV SEL1L2:NM_001271539:exon3:c.C223T:p.R75C exonic ENSG00000101251 NA nonsynonymous SNV ENSG00000101251:ENST00000284951:exon3:c.C223T:p.R75C,ENSG00000101251:ENST00000378072:exon3:c.C223T:p.R75C,ENSG00000101251:ENST00000423870:exon3:c.C223T:p.R75C NA NA 20p12.1 NA NA NA NA rs41275404 0.07 0.07 0.061 0.0541134 0.1471 0.001 0.0922 0.0083 0.0481 0.15 NA 0.09 0.01 0.1095 0.15 0.19 T 0.0 B 0.0 B 0.158 N 1.000 P 0.345 N 2.16 T -1.023 T 0.000 T 0.277 0.526 6.852 1.92 0.222 1.730 2.217 0.526474 NA 0 0.129092 0.027856 ID=COSM1410446;OCCURENCE=1(large_intestine) 0.065 NA 7.9476414 865 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 865 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 865 11 56058535 56058535 C T exonic OR8H1 NA nonsynonymous SNV OR8H1:NM_001005199:exon1:c.G4A:p.G2S exonic ENSG00000181693 NA nonsynonymous SNV ENSG00000181693:ENST00000313022:exon1:c.G4A:p.G2S NA NA 11q12.1 NA NA NA NA rs11600896 0.09 0.09 0.079 0.0780751 0.1302 0.0863 0.0821 0.0053 0.1115 0.13 0.1 0.09 0.01 0.1178 0.14 0.23 T 0.0 B 0.001 B 0.391 N 1.000 P -0.21 N 4.12 T -0.905 T 0.000 T 0.025 0.657 7.524 -4.63 -0.758 -0.301 3.462 0.657329 NA 0.73 0.139548 0.026579 NA 0.022 NA 7.9457854 865 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 865 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 866 4 187179210 187179210 T C exonic KLKB1 NA synonymous SNV KLKB1:NM_000892:exon15:c.T1761C:p.N587N exonic ENSG00000164344 NA nonsynonymous SNV ENSG00000164344:ENST00000513864:exon14:c.T1621C:p.W541R NA NA 4q35.2 NA NA NA NA rs925453 0.72 0.72 0.709 0.658147 0.7008 0.8512 0.6758 0.6301 0.4407 0.69 0.85 0.7 0.64 0.6682 0.85 0.09 T 0.0 B 0.001 B . . 1.000 P . . -2.28 D -0.929 T 0.000 T . -0.682 1.032 -12.1 -4.563 -3.894 10.770 -0.681527 NA 0.86 0.686977 0.661371 NA 0.688 NA 7.944023 866 8 105361354 105361354 G C exonic DCSTAMP NA nonsynonymous SNV DCSTAMP:NM_001257317:exon2:c.G574C:p.E192Q,DCSTAMP:NM_030788:exon2:c.G574C:p.E192Q exonic ENSG00000164935 NA nonsynonymous SNV ENSG00000164935:ENST00000517991:exon1:c.G574C:p.E192Q,ENSG00000164935:ENST00000297581:exon2:c.G574C:p.E192Q NA NA 8q22.3 NA NA Name=9 NA rs67114147 0.12 0.12 0.086 0.116414 0.1272 0.1319 0.1859 0.0605 0.1155 0.13 0.1 0.2 0.07 0.1301 0.2 . . 0.051 B 0.016 B 0.051 N 1.000 P 1.04 L 1.42 T -0.986 T 0.000 T 0.023 1.006 9.109 -1.86 -0.817 -0.341 11.861 1.006175 NA 0.01 0.132093 0.079437 NA 0.123 NA 7.9439404 866 14 105406372 105406372 C T exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.G15416A:p.G5139E exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000557457:exon3:c.G410A:p.G137E,ENSG00000185567:ENST00000333244:exon7:c.G15416A:p.G5139E NA NA 14q32.33 NA NA NA NA rs61421370 0.32 0.32 0.319 0.293131 0.4821 0.0843 0.317 0.2398 0.3691 0.49 0.06 0.35 0.31 0.4138 0.49 1 T 0.244 B 0.063 B 0.708 U 1.000 P 2.085 M 4.29 T -0.906 T 0.000 T 0.181 0.889 8.613 -1.83 -0.309 -2.063 0.421 0.889475 NA 0.11 0.493548 0.288971 NA 0.42 NA 7.9438854 866 1 156450719 156450719 G A exonic MEF2D NA synonymous SNV MEF2D:NM_001271629:exon4:c.C303T:p.P101P,MEF2D:NM_005920:exon4:c.C303T:p.P101P exonic ENSG00000116604 NA synonymous SNV ENSG00000116604:ENST00000348159:exon4:c.C303T:p.P101P,ENSG00000116604:ENST00000360595:exon4:c.C303T:p.P101P,ENSG00000116604:ENST00000368240:exon4:c.C303T:p.P101P Score=653;Name=lod=602 NA 1q22 NA Name=Znf143_(16618-1-AP),CTCF_(C-20),GABP,CTCF_(SC-5916),Pol2-4H8,ELF1_(SC-631),CTCF,ZBTB7A_(SC-34508),YY1,ZNF263,SMC3_(ab9263),CTCFL_(SC-98982),YY1_(C-20),Rad21 Name=92 NA rs1185700 0.25 0.25 0.199 0.232628 0.2386 0.245 0.2983 0.1808 0.2372 0.25 0.29 0.27 0.2 0.2537 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.73364 1.73364 NA 0.2311 0.211626 NA 0.225 NA 7.9432666 866 5 26988424 26988424 T C exonic CDH9 NA nonsynonymous SNV CDH9:NM_016279:exon2:c.A17G:p.Y6C exonic ENSG00000113100 NA nonsynonymous SNV ENSG00000113100:ENST00000231021:exon2:c.A17G:p.Y6C,ENSG00000113100:ENST00000513289:exon2:c.A17G:p.Y6C,ENSG00000113100:ENST00000511822:exon3:c.A17G:p.Y6C NA NA 5p14.1 Score=850;Name=V$TST1_01 NA NA NA rs2288467 0.37 0.37 0.387 0.325879 0.4712 0.1518 0.2536 0.4894 0.1861 0.48 0.17 0.3 0.49 0.4194 0.52 . . 0.0 B 0.001 B 0.166 N 1.000 P -0.69 N 1.97 T -0.913 T 0.000 T 0.414 -1.81 0.009 2.69 0.021 0.105 4.153 -1.810275 NA 0.23 0.499651 0.519519 NA 0.362 NA 7.9430824 866 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 866 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 866 4 86915848 86915848 T C exonic ARHGAP24 NA synonymous SNV ARHGAP24:NM_031305:exon6:c.T762C:p.N254N,ARHGAP24:NM_001042669:exon7:c.T756C:p.N252N,ARHGAP24:NM_001025616:exon9:c.T1041C:p.N347N exonic ENSG00000138639 NA synonymous SNV ENSG00000138639:ENST00000264343:exon6:c.T762C:p.N254N,ENSG00000138639:ENST00000395183:exon7:c.T756C:p.N252N,ENSG00000138639:ENST00000514229:exon7:c.T786C:p.N262N,ENSG00000138639:ENST00000395184:exon9:c.T1041C:p.N347N Score=412;Name=lod=63 NA 4q21.3 NA Name=c-Fos Name=23 NA rs10003909 0.32 0.32 0.295 0.354433 0.2227 0.3145 0.3098 0.4697 0.407 0.22 0.33 0.34 0.45 0.2809 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.267817 NA NA 0.223837 0.445983 NA 0.326 NA 7.9392296 866 19 35786868 35786868 C T exonic MAG NA synonymous SNV MAG:NM_001199216:exon4:c.C324T:p.S108S,MAG:NM_002361:exon4:c.C399T:p.S133S,MAG:NM_080600:exon4:c.C399T:p.S133S exonic ENSG00000105695 NA synonymous SNV ENSG00000105695:ENST00000600291:exon3:c.C324T:p.S108S,ENSG00000105695:ENST00000361922:exon4:c.C399T:p.S133S,ENSG00000105695:ENST00000392213:exon4:c.C399T:p.S133S,ENSG00000105695:ENST00000537831:exon4:c.C324T:p.S108S,ENSG00000105695:ENST00000595791:exon4:c.C399T:p.S133S Score=505;Name=lod=150 NA 19q13.12 NA Name=E2F6_(H-50),ELF1_(SC-631) Name=15 NA rs2301600 0.27 0.27 0.252 0.289537 0.2416 0.4226 0.3746 0.0998 0.3978 0.25 0.41 0.3 0.13 0.271 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.886137 NA NA 0.216031 0.117794 NA 0.232 NA 7.9380356 866 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 866 14 91773494 91773494 G A exonic CCDC88C NA nonsynonymous SNV CCDC88C:NM_001080414:exon18:c.C3083T:p.A1028V exonic ENSG00000015133 NA nonsynonymous SNV ENSG00000015133:ENST00000389857:exon18:c.C3083T:p.A1028V NA NA 14q32.11 NA NA NA NA rs1970911 0.16 0.16 0.161 0.166334 0.1083 0.2411 0.1671 0.1203 0.2106 0.11 0.26 0.14 0.13 0.1596 0.26 0.44 T 0.004 B 0.001 B . . 1.000 P -0.41 N 2.52 T -0.903 T 0.000 T 0.039 0.997 9.07 -4.86 -0.483 -0.103 2.875 0.996777 NA 0.32 0.127456 0.112389 NA 0.072 NA 7.9379774 866 2 239039183 239039183 G A exonic ESPNL NA nonsynonymous SNV ESPNL:NM_194312:exon9:c.G1828A:p.V610M exonic ENSG00000144488 NA nonsynonymous SNV ENSG00000144488:ENST00000409506:exon4:c.G724A:p.V242M,ENSG00000144488:ENST00000409169:exon8:c.G1696A:p.V566M,ENSG00000144488:ENST00000343063:exon9:c.G1828A:p.V610M NA NA 2q37.3 NA NA NA NA rs73102303 0.11 0.11 0.102 0.13139 0.1113 0.0526 0.085 0.2413 0.1176 0.1 0.07 0.1 0.2 0.1771 0.2 0.46 T 0.414 B 0.029 B 0.079 N 1.000 P -0.11 N 1.04 T -1.032 T 0.000 T 0.212 -1.333 0.031 -2.26 -0.396 -0.513 9.051 -1.332649 NA 0.37 0.108439 0.197435 ID=COSM442575;OCCURENCE=1(breast) 0.072 NA 7.9364944 866 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 867 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 867 13 50205025 50205025 T C exonic ARL11 NA nonsynonymous SNV ARL11:NM_138450:exon2:c.T442C:p.C148R exonic ENSG00000152213 NA nonsynonymous SNV ENSG00000152213:ENST00000282026:exon2:c.T442C:p.C148R NA NA 13q14.2 NA NA NA NA rs3803185 0.31 0.31 0.27 0.253794 0.496 0.1865 0.4006 0.0666 0.2229 0.52 0.17 0.4 0.07 0.3907 0.52 0.25 T 0.001 B 0.003 B 0.498 N 1.000 P -0.175 N -1.48 T -1.040 T 0.000 T 0.023 -1.135 0.113 -10.8 -2.504 -1.348 5.602 -1.135197 NA 0.54 0.51396 0.145937 NA 0.261 NA 7.9326734 867 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 867 9 114464487 114464487 T C exonic C9orf84 NA nonsynonymous SNV C9orf84:NM_001080551:exon19:c.A2678G:p.Y893C,C9orf84:NM_173521:exon21:c.A2795G:p.Y932C exonic ENSG00000165181 NA nonsynonymous SNV ENSG00000165181:ENST00000394777:exon18:c.A2573G:p.Y858C,ENSG00000165181:ENST00000394779:exon19:c.A2678G:p.Y893C,ENSG00000165181:ENST00000318737:exon21:c.A2795G:p.Y932C,ENSG00000165181:ENST00000374287:exon23:c.A2795G:p.Y932C Score=472;Name=lod=110 NA 9q31.3 NA NA NA NA rs1407390 0.86 0.86 0.863 0.85024 0.7952 0.9266 0.8732 0.8646 0.7924 0.8 0.92 0.87 0.88 0.8179 0.92 0.72 T 0.0 B 0.001 B 0.404 N 0.000 P -0.55 N 3.65 T -1.052 T 0.000 T 0.087 -1.027 0.223 -2.51 -0.868 -1.044 9.931 -1.027272 NA 0.38 0.787942 0.85698 NA 0.804 NA 7.9322914 867 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 867 18 59774037 59774037 C T exonic PIGN NA synonymous SNV PIGN:NM_012327:exon18:c.G1752A:p.L584L,PIGN:NM_176787:exon19:c.G1752A:p.L584L exonic ENSG00000197563 NA synonymous SNV ENSG00000197563:ENST00000586566:exon3:c.G222A:p.L74L,ENSG00000197563:ENST00000400334:exon18:c.G1752A:p.L584L,ENSG00000197563:ENST00000357637:exon19:c.G1752A:p.L584L Score=474;Name=lod=113 NA 18q21.33 Score=838;Name=V$AP4_01 Name=GATA-2 NA NA rs9319997 0.12 0.12 0.126 0.0934505 0.2694 0.0069 0.1239 0.0061 0.0982 0.26 0.0035 0.14 0.01 0.2197 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447415 NA NA 0.246545 0.049843 NA 0.145 NA 7.9310216 867 11 113268059 113268059 G A exonic ANKK1 NA nonsynonymous SNV ANKK1:NM_178510:exon6:c.G952A:p.G318R exonic ENSG00000170209 NA nonsynonymous SNV ENSG00000170209:ENST00000303941:exon6:c.G952A:p.G318R NA NA 11q23.2 Score=781;Name=V$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 867 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 867 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$GRE_C NA NA NA rs805722 0.72 0.72 0.675 0.69369 0.8052 0.7659 0.7954 0.4728 0.7311 0.8 0.79 0.81 0.47 0.7803 0.82 0.3 T 0.0 B 0.001 B 0.071 N 0.091 P 0.08 N -3.22 D -0.959 T 0.000 T 0.18 -1.681 0.012 -4.21 -0.640 -0.222 7.481 -1.68079 NA 0.35 0.818488 0.524966 ID=COSM1178415;OCCURENCE=1(prostate) 0.717 NA 7.9293454 867 19 51728477 51728477 C T exonic CD33 NA nonsynonymous SNV CD33:NM_001177608:exon2:c.C41T:p.A14V,CD33:NM_001772:exon2:c.C41T:p.A14V exonic ENSG00000105383 NA nonsynonymous SNV ENSG00000105383:ENST00000262262:exon2:c.C41T:p.A14V,ENSG00000105383:ENST00000391796:exon2:c.C41T:p.A14V NA NA 19q13.41 NA Name=TBP,Pol2 NA NA rs12459419 0.24 0.24 0.189 0.210663 0.3101 0.1855 0.4841 0.0514 0.1554 0.31 0.18 0.42 0.07 0.2939 0.42 0.12 T 0.766 P 0.283 B . . 1.000 P 0.975 L 2.45 T -0.889 T 0.000 T 0.032 1.889 12.28 0.919 0.184 0.120 9.354 1.889446 1.889446 0.11 0.300581 0.093282 NA 0.167 NA 7.9287524 867 9 139701108 139701108 A C exonic KIAA1984 NA nonsynonymous SNV KIAA1984:NM_001039374:exon11:c.A1262C:p.N421T exonic ENSG00000213213 NA nonsynonymous SNV ENSG00000213213:ENST00000338005:exon11:c.A1262C:p.N421T NA NA 9q34.3 Score=784;Name=V$CART1_01 NA NA NA rs2254143 0.8 0.8 0.822 0.80651 0.8032 0.8581 0.7032 0.8177 0.8149 0.81 0.85 0.73 0.81 0.806 0.85 0.54 T 0.0 B 0.0 B . . 0.987 P -1.1 N 2.84 T -1.054 T 0.000 T 0.013 -0.794 0.692 5.07 1.134 0.816 11.089 -0.794278 NA 1 0.796327 0.822681 NA 0.884 NA 7.9278064 867 18 61264298 61264298 G A exonic SERPINB13 NA nonsynonymous SNV SERPINB13:NM_012397:exon8:c.G877A:p.G293S exonic ENSG00000197641 NA nonsynonymous SNV ENSG00000197641:ENST00000269489:exon7:c.G721A:p.G241S,ENSG00000197641:ENST00000344731:exon8:c.G877A:p.G293S NA NA 18q21.33 NA NA NA NA rs1020694 0.85 0.85 0.871 0.860224 0.8072 0.875 0.7925 0.9554 0.819 0.8 0.86 0.8 0.94 0.8075 0.94 1 T 0.003 B 0.001 B 0.481 N 1.000 P -1.19 N -1.6 D -0.957 T 0.000 T 0.011 -0.59 1.358 2.85 0.022 1.672 4.798 -0.589537 NA 1 0.791744 0.930095 NA 0.928 NA 7.9268894 867 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 868 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=TAF1,c-Jun,NFKB,IRF4_(M-17),EBF1_(C-8),Pol2-4H8,ELF1_(SC-631),HEY1,BCLAF1_(M33-P5B11),GATA-1,Pol2,GATA2_(CG2-96),GATA-2,p300,TAF7_(SQ-8),POU2F2,Pol2(b),EBF,TBP,c-Fos,GTF2F1_(RAP-74),eGFP-GATA2,Oct-2,p300_(N-15),Sin3Ak-20,GATA3_(SC-268),eGFP-JunD 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 868 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 868 15 72040774 72040774 C T exonic THSD4 NA synonymous SNV THSD4:NM_024817:exon13:c.C2256T:p.C752C exonic ENSG00000187720 NA synonymous SNV ENSG00000187720:ENST00000357769:exon8:c.C1176T:p.C392C,ENSG00000187720:ENST00000261862:exon13:c.C2256T:p.C752C,ENSG00000187720:ENST00000355327:exon14:c.C2256T:p.C752C Score=479;Name=lod=118 NA 15q23 NA Name=GR,Pol2 Name=68 NA rs1872056 0.21 0.21 0.223 0.199281 0.2644 0.0823 0.147 0.3086 0.1421 0.25 0.1 0.19 0.31 0.2275 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.137721 NA NA 0.250995 0.293807 NA 0.254 NA 7.9237716 868 18 55143766 55143766 C T exonic ONECUT2 NA synonymous SNV ONECUT2:NM_004852:exon2:c.C1326T:p.F442F exonic ENSG00000119547 NA synonymous SNV ENSG00000119547:ENST00000491143:exon2:c.C1326T:p.F442F NA NA 18q21.31 NA NA NA NA rs3745074 0.39 0.39 0.368 0.392372 0.2356 0.4673 0.4236 0.5136 0.2904 0.24 0.48 0.43 0.49 0.2964 0.49 . . . . . . . . 0.000 P . . . . -1.060 T 0.000 T . 0.571 7.087 -10.2 -2.195 -2.690 21.951 0.571487 NA NA 0.211014 0.438499 NA 0.333 NA 7.9236526 868 14 64935411 64935411 C T exonic AKAP5 NA nonsynonymous SNV AKAP5:NM_004857:exon2:c.C299T:p.P100L exonic ENSG00000179841 NA nonsynonymous SNV ENSG00000179841:ENST00000320636:exon1:c.C299T:p.P100L,ENSG00000179841:ENST00000394718:exon2:c.C299T:p.P100L NA NA 14q23.3 NA NA NA NA rs2230491 0.07 0.07 0.054 0.071885 0.1412 NA 0.0821 0.003 0.1605 0.15 NA 0.11 0.0041 0.1189 0.15 0.29 T 0.001 B 0.002 B 0.748 N 1.000 P 0.55 N 0.65 T -1.060 T 0.000 T 0.051 -0.708 0.946 -2.52 -0.485 -0.552 1.597 -0.708037 NA 0.45 0.149651 0.03247 NA 0.072 NA 7.9235824 868 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 868 5 64267595 64267595 T C exonic CWC27 NA synonymous SNV CWC27:NM_005869:exon12:c.T1108C:p.L370L exonic ENSG00000153015 NA synonymous SNV ENSG00000153015:ENST00000381070:exon12:c.T1108C:p.L370L Score=559;Name=lod=250 NA 5q12.3 NA Name=CTCF,CTCF_(C-20),Rad21,SMC3_(ab9263) Name=49 NA rs2278351 0.32 0.32 0.313 0.339457 0.2435 0.4653 0.1772 0.4123 0.3252 0.24 0.46 0.2 0.36 0.2683 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.187871 NA NA 0.231977 0.336586 NA 0.268 NA 7.9228896 868 1 228560700 228560700 T C exonic OBSCN NA synonymous SNV OBSCN:NM_001098623:exon94:c.T22221C:p.D7407D,OBSCN:NM_001271223:exon105:c.T25092C:p.D8364D exonic ENSG00000154358 NA synonymous SNV ENSG00000154358:ENST00000422127:exon94:c.T22221C:p.D7407D,ENSG00000154358:ENST00000366707:exon100:c.T15123C:p.D5041D,ENSG00000154358:ENST00000570156:exon105:c.T25092C:p.D8364D NA NA 1q42.13 NA Name=HMGN3 NA NA rs512253 NA NA 0.72 0.757987 0.5636 0.752 0.6398 0.9365 0.8067 NA NA NA NA 0.6317 0.86 . . . . . . . . 0.024 P . . . . . . . . . 0.437 6.371 -7.65 -1.794 -0.247 5.442 0.436557 NA NA 0.548517 0.863442 ID=COSM1473568;OCCURENCE=4(breast),1(large_intestine) 0.79 NA 7.9228496 868 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 868 17 43227214 43227214 T C exonic HEXIM1 NA synonymous SNV HEXIM1:NM_006460:exon1:c.T657C:p.D219D exonic ENSG00000186834 NA synonymous SNV ENSG00000186834:ENST00000332499:exon1:c.T657C:p.D219D Score=713;Name=lod=1057 NA 17q21.31 NA Name=PAX5-C20,PU.1 Name=114 NA rs1044977 0.2 0.2 0.152 0.198682 0.2734 0.2183 0.196 0.0477 0.3078 0.27 0.23 0.2 0.04 0.2275 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.158378 NA NA 0.243372 0.076487 NA 0.181 NA 7.9223946 868 11 35308369 35308369 T C exonic SLC1A2 NA synonymous SNV SLC1A2:NM_004171:exon8:c.A1221G:p.V407V,SLC1A2:NM_001195728:exon9:c.A1194G:p.V398V,SLC1A2:NM_001252652:exon9:c.A1194G:p.V398V exonic ENSG00000110436 NA synonymous SNV ENSG00000110436:ENST00000278379:exon8:c.A1221G:p.V407V,ENSG00000110436:ENST00000606205:exon8:c.A1221G:p.V407V,ENSG00000110436:ENST00000395750:exon9:c.A1194G:p.V398V,ENSG00000110436:ENST00000395753:exon9:c.A1194G:p.V398V Score=551;Name=lod=232 NA 11p13 NA NA NA NA rs1042113 0.27 0.27 0.267 0.230431 0.2624 0.1885 0.2536 0.3253 0.0961 0.27 0.24 0.26 0.32 0.24 0.32 . . . . . . . . 0.000 P . . . . . . . . . 0.72 7.832 2.66 0.106 0.411 9.628 0.720014 NA NA 0.242438 0.278837 NA 0.181 NA 7.9218286 868 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 868 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=NFKB,TAF1,Pol2-4H8,EBF1_(C-8),TCF12,Pol2,PAX5-N19 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 868 6 111901453 111901453 G T exonic TRAF3IP2 NA nonsynonymous SNV TRAF3IP2:NM_001164281:exon3:c.C969A:p.H323Q,TRAF3IP2:NM_147686:exon3:c.C969A:p.H323Q exonic ENSG00000056972 NA nonsynonymous SNV ENSG00000056972:ENST00000359831:exon3:c.C969A:p.H323Q,ENSG00000056972:ENST00000368761:exon3:c.C969A:p.H323Q,ENSG00000056972:ENST00000340026:exon4:c.C996A:p.H332Q Score=403;Name=lod=58 NA 6q21 Score=775;Name=V$PAX2_01 NA NA NA rs1043730 0.91 0.91 0.903 0.931709 0.7803 0.999 0.8963 0.9955 0.9571 0.8 1 0.89 0.99 0.8536 1 1 T 0.0 B 0.0 B 0.039 N 0.000 P -1.995 N 1.66 T -0.946 T 0.004 T 0.054 -0.055 3.735 3.55 0.141 0.522 3.457 -0.054687 NA 1 0.778488 0.958693 NA 0.891 NA 7.9209454 868 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 868 22 36661646 36661646 G A exonic APOL1 NA nonsynonymous SNV APOL1:NM_001136541:exon5:c.G710A:p.R237K,APOL1:NM_001136540:exon6:c.G764A:p.R255K,APOL1:NM_003661:exon6:c.G764A:p.R255K,APOL1:NM_145343:exon7:c.G812A:p.R271K exonic ENSG00000100342 NA nonsynonymous SNV ENSG00000100342:ENST00000347595:exon3:c.G401A:p.R134K,ENSG00000100342:ENST00000426053:exon5:c.G710A:p.R237K,ENSG00000100342:ENST00000397278:exon6:c.G764A:p.R255K,ENSG00000100342:ENST00000397279:exon6:c.G764A:p.R255K,ENSG00000100342:ENST00000422706:exon6:c.G764A:p.R255K,ENSG00000100342:ENST00000319136:exon7:c.G812A:p.R271K NA NA 22q12.3 NA NA NA NA rs136176 0.84 0.84 0.833 0.86262 0.7813 0.7976 0.8847 0.9826 0.8354 0.78 0.81 0.86 0.97 0.8349 0.97 1 T 0.0 B 0.0 B 0.001 N 1.000 P -1.725 N 4.07 T -0.903 T 0.000 T 0.056 -1.561 0.015 -6.25 -3.648 -4.569 0.624 -1.560631 NA 1 0.797791 0.948933 NA 0.942 NA 7.9193424 868 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 868 4 155287535 155287535 T C exonic DCHS2 NA nonsynonymous SNV DCHS2:NM_001142552:exon3:c.A2303G:p.H768R,DCHS2:NM_017639:exon5:c.A521G:p.H174R exonic ENSG00000197410 NA nonsynonymous SNV ENSG00000197410:ENST00000339452:exon3:c.A2303G:p.H768R,ENSG00000197410:ENST00000357232:exon5:c.A521G:p.H174R NA NA 4q31.3 Score=814;Name=V$CART1_01 NA NA NA rs10017772 0.45 0.45 0.434 0.461861 0.492 0.4474 0.4078 0.3873 0.5849 0.5 0.43 0.46 0.38 0.4597 0.5 0.66 T 0.007 B 0.003 B 0.823 N 1.000 P -0.835 N 0.34 T -0.914 T 0.000 T 0.052 -0.956 0.331 2.1 0.126 0.289 5.102 -0.955864 NA 0.59 0.46407 0.414435 NA 0.616 NA 7.9175634 868 1 46500613 46500613 T C exonic MAST2 NA synonymous SNV MAST2:NM_015112:exon29:c.T4272C:p.T1424T exonic ENSG00000086015 NA synonymous SNV ENSG00000086015:ENST00000361297:exon29:c.T4272C:p.T1424T,ENSG00000086015:ENST00000372009:exon29:c.T3702C:p.T1234T Score=466;Name=lod=104 NA 1p34.1 NA Name=CTCF_(SC-5916),Rad21,CTCF Name=4 NA rs17855317 0.14 0.14 0.117 0.117412 0.2823 0.0149 0.1311 0.0469 0.1391 0.28 0.01 0.14 0.06 0.2065 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.492531 NA NA 0.26032 0.081578 ID=COSM426374;OCCURENCE=1(breast) 0.123 NA 7.9175466 868 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 868 10 123596254 123596254 T C exonic ATE1 NA synonymous SNV ATE1:NM_001001976:exon10:c.A1236G:p.S412S,ATE1:NM_007041:exon10:c.A1236G:p.S412S exonic ENSG00000107669 NA synonymous SNV ENSG00000107669:ENST00000369040:exon8:c.A948G:p.S316S,ENSG00000107669:ENST00000535655:exon8:c.A339G:p.S113S,ENSG00000107669:ENST00000543447:exon9:c.A891G:p.S297S,ENSG00000107669:ENST00000224652:exon10:c.A1236G:p.S412S,ENSG00000107669:ENST00000369043:exon10:c.A1236G:p.S412S,ENSG00000107669:ENST00000540606:exon10:c.A1215G:p.S405S NA NA 10q26.13 Score=825;Name=V$POU3F2_01 NA NA NA rs4237536 0.9 0.9 0.908 0.889177 0.9225 0.9256 0.7867 0.8828 0.8988 0.91 0.92 0.85 0.9 0.8979 0.96 . . . . . . . . 0.000 P . . . . -1.024 T 0.000 T . 0.868 8.518 -6.52 -1.150 -1.608 2.518 0.867986 NA NA 0.928954 0.872098 NA 0.971 NA 7.9173126 868 12 102455729 102455729 G A exonic CCDC53 NA synonymous SNV CCDC53:NM_016053:exon1:c.C12T:p.D4D exonic ENSG00000120860 NA synonymous SNV ENSG00000120860:ENST00000240079:exon1:c.C12T:p.D4D,ENSG00000120860:ENST00000500685:exon1:c.C12T:p.D4D,ENSG00000120860:ENST00000535501:exon1:c.C12T:p.D4D,ENSG00000120860:ENST00000538761:exon1:c.C12T:p.D4D,ENSG00000120860:ENST00000540536:exon1:c.C12T:p.D4D,ENSG00000120860:ENST00000544341:exon1:c.C12T:p.D4D,ENSG00000120860:ENST00000545679:exon1:c.C12T:p.D4D Score=599;Name=lod=362 NA 12q23.2 Score=871;Name=V$ELK1_01 Name=GATA-1,HEY1,Pol2-4H8,TAF1,NFKB,Ini1,Pol2,ZBTB7A_(SC-34508),ELK4,CCNT2 NA NA rs3751129 0.3 0.3 0.297 0.280351 0.2157 0.4276 0.2464 0.3003 0.1922 0.22 0.45 0.22 0.33 0.3173 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.792445 1.792445 NA 0.216525 0.308555 NA 0.188 NA 7.9171416 868 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 868 10 70405855 70405855 A G exonic TET1 NA nonsynonymous SNV TET1:NM_030625:exon4:c.A3369G:p.I1123M exonic ENSG00000138336 NA nonsynonymous SNV ENSG00000138336:ENST00000373644:exon4:c.A3369G:p.I1123M NA NA 10q21.3 NA Name=CEBPB NA NA rs3998860 0.73 0.73 0.721 0.693291 0.8091 0.8502 0.7781 0.4508 0.68 0.81 0.84 0.75 0.47 0.7737 0.84 0.03 D 0.07 B 0.01 B 0.253 N 1.000 P 0.55 N 3.12 T -0.998 T 0.000 T 0.03 0.263 5.423 -3.65 -0.205 0.372 4.264 0.263111 NA 0.1 0.834884 0.499319 NA 0.659 NA 7.9156494 869 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 869 2 7137067 7137067 A G exonic RNF144A NA nonsynonymous SNV RNF144A:NM_014746:exon3:c.A10G:p.T4A exonic ENSG00000151692 NA nonsynonymous SNV ENSG00000151692:ENST00000433456:exon2:c.A10G:p.T4A,ENSG00000151692:ENST00000320892:exon3:c.A10G:p.T4A,ENSG00000151692:ENST00000416587:exon3:c.A10G:p.T4A Score=599;Name=lod=363 NA 2p25.1 NA NA NA NA rs364891 0.81 0.81 0.802 0.841853 0.8022 0.7817 0.7954 0.8684 0.9417 0.8 0.79 0.78 0.87 0.8242 0.87 1 T 0.0 B 0.0 B 0.000 N 0.999 P 0.28 N 1.45 T -0.962 T 0.000 T 0.073 0.806 8.235 4.74 0.858 5.276 12.779 0.805546 NA 1 0.792326 0.857013 NA 0.841 NA 7.9146074 869 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 869 8 22584718 22584718 T C exonic PEBP4 NA nonsynonymous SNV PEBP4:NM_144962:exon5:c.A373G:p.K125E exonic ENSG00000134020 NA nonsynonymous SNV ENSG00000134020:ENST00000256404:exon5:c.A373G:p.K125E NA NA 8p21.3 NA NA NA NA rs1129474 0.48 0.48 0.472 0.498602 0.4672 0.2798 0.5749 0.7458 0.3681 0.46 0.25 0.56 0.74 0.4714 0.74 0.17 T 0.065 B 0.022 B 0.418 N 1.000 P 0.66 N 1.02 T -0.928 T 0.000 T 0.062 1.747 11.8 3.31 1.783 0.388 6.139 1.747447 1.747447 0.59 0.480816 0.70292 ID=COSM150467;OCCURENCE=1(stomach) 0.449 NA 7.9139174 869 8 618728 618728 A G exonic ERICH1 NA synonymous SNV ERICH1:NM_207332:exon5:c.T1128C:p.L376L exonic ENSG00000104714 NA synonymous SNV ENSG00000104714:ENST00000522706:exon3:c.T846C:p.L282L,ENSG00000104714:ENST00000262109:exon5:c.T1128C:p.L376L Score=235;Name=lod=12 NA 8p23.3 NA NA NA NA rs2271263 0.87 0.87 0.874 NA NA NA NA NA NA 0.88 0.94 0.89 0.78 0.8789 0.94 0 D . . . . 0.000 D 0.000 P . . -0.4 T -1.041 T 0.000 T . -0.715 0.923 -1.26 -0.199 -0.445 5.632 -0.71509 NA NA 0.87407 0.81389 NA 0.717 NA 7.9136966 869 1 144912153 144912153 A G exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001002811:exon11:c.T2611C:p.C871R,PDE4DIP:NM_001002812:exon15:c.T2122C:p.C708R,PDE4DIP:NM_001198834:exon15:c.T2122C:p.C708R,PDE4DIP:NM_014644:exon15:c.T2122C:p.C708R,PDE4DIP:NM_001198832:exon18:c.T2320C:p.C774R exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000313431:exon11:c.T2611C:p.C871R,ENSG00000178104:ENST00000479408:exon11:c.T1483C:p.C495R,ENSG00000178104:ENST00000529945:exon11:c.T2611C:p.C871R,ENSG00000178104:ENST00000369349:exon15:c.T2122C:p.C708R,ENSG00000178104:ENST00000369351:exon15:c.T2122C:p.C708R,ENSG00000178104:ENST00000369354:exon15:c.T2122C:p.C708R,ENSG00000178104:ENST00000369356:exon15:c.T2122C:p.C708R,ENSG00000178104:ENST00000313382:exon18:c.T2320C:p.C774R,ENSG00000178104:ENST00000369359:exon18:c.T2533C:p.C845R,ENSG00000178104:ENST00000530740:exon18:c.T2533C:p.C845R NA NA 1q21.1 NA NA NA NA rs1628172 0.87 0.87 0.899 0.883786 0.8022 0.9395 0.8934 0.9236 0.8497 0.79 0.95 0.87 0.9 0.8255 0.95 0.47 T 0.002 B 0.001 B . . 1.000 P -0.345 N 4.88 T -0.906 T 0.005 T 0.076 -0.239 2.846 3.64 1.355 2.043 9.299 -0.239437 NA 0.35 0.792326 0.893554 NA 0.855 NA 7.9133074 869 1 159002389 159002389 T A exonic IFI16 NA nonsynonymous SNV IFI16:NM_001206567:exon6:c.T1069A:p.Y357N,IFI16:NM_005531:exon7:c.T1237A:p.Y413N exonic ENSG00000163565 NA nonsynonymous SNV ENSG00000163565:ENST00000359709:exon6:c.T1069A:p.Y357N,ENSG00000163565:ENST00000430894:exon6:c.T1081A:p.Y361N,ENSG00000163565:ENST00000448393:exon6:c.T1237A:p.Y413N,ENSG00000163565:ENST00000295809:exon7:c.T1237A:p.Y413N,ENSG00000163565:ENST00000340979:exon7:c.T1237A:p.Y413N,ENSG00000163565:ENST00000368131:exon7:c.T1237A:p.Y413N,ENSG00000163565:ENST00000368132:exon7:c.T1237A:p.Y413N NA NA 1q23.1 NA NA NA NA rs1057028 0.68 0.68 0.622 0.630791 0.838 0.5873 0.8689 0.3207 0.7127 0.85 0.66 0.87 0.3 0.7674 0.87 0.58 T 0.0 B 0.0 B . . 1.000 P -0.895 N 3.73 T -0.927 T 0.001 T 0.043 -1.109 0.135 -4.3 -1.913 -2.519 0.105 -1.109001 NA 0.96 0.817209 0.430322 NA 0.522 NA 7.9107244 869 15 65489128 65489128 C T exonic CILP NA nonsynonymous SNV CILP:NM_003613:exon9:c.G3496A:p.G1166S exonic ENSG00000138615 NA nonsynonymous SNV ENSG00000138615:ENST00000261883:exon9:c.G3496A:p.G1166S NA NA 15q22.31 NA Name=CEBPB,CTCF,CTCF_(SC-5916) NA NA rs938952 0.81 0.81 0.76 0.805711 0.8022 0.9921 0.8718 0.5749 0.8824 0.79 1 0.84 0.58 0.8218 1 0.11 T 0.0 B 0.001 B 0.454 N 1.000 P 0 N 1.3 T -1.026 T 0.000 T 0.022 -0.75 0.818 3.46 0.262 1.396 4.895 -0.749557 NA 0.5 0.80007 0.59673 NA 0.681 NA 7.9092634 869 1 12776344 12776344 A T exonic AADACL3 NA nonsynonymous SNV AADACL3:NM_001103169:exon1:c.A1T:p.M1L exonic ENSG00000188984 NA nonsynonymous SNV ENSG00000188984:ENST00000332530:exon1:c.A1T:p.M1L NA NA 1p36.21 Score=868;Name=V$ATF6_01 NA NA NA rs3000859 0.68 0.68 0.643 0.65655 0.8151 0.619 0.8473 0.4009 0.7423 0.82 0.63 0.85 0.41 0.7779 0.85 1 T 0.0 B 0.0 B . . 0.000 P . . 3.47 T -0.907 T 0.000 T 0.023 -0.226 2.908 -10.0 -1.257 -2.328 1.079 -0.226085 NA 1 0.831308 0.510054 NA 0.623 NA 7.9090254 869 17 39890715 39890715 A T exonic HAP1 NA nonsynonymous SNV HAP1:NM_001079870:exon1:c.T172A:p.S58T,HAP1:NM_001079871:exon1:c.T172A:p.S58T,HAP1:NM_177977:exon1:c.T172A:p.S58T exonic ENSG00000173805 NA nonsynonymous SNV ENSG00000173805:ENST00000310778:exon1:c.T172A:p.S58T,ENSG00000173805:ENST00000341193:exon1:c.T172A:p.S58T,ENSG00000173805:ENST00000347901:exon1:c.T172A:p.S58T,ENSG00000173805:ENST00000393939:exon1:c.T172A:p.S58T NA NA 17q21.2 NA Name=SUZ12,Nrf1,Pol2 Name=75 NA rs4796603 0.77 0.77 0.777 0.769968 0.8211 0.8998 0.8069 0.4992 0.9233 0.82 0.89 0.8 0.53 0.7927 0.89 0.48 T 0.859 P 0.451 P . . 1.000 P 0.46 N 3.16 T -1.003 T 0.000 T 0.026 2.358 13.84 1.1 0.738 0.914 4.395 2.358092 2.358092 0.35 0.811044 0.547565 NA 0.804 NA 7.9084894 869 5 180166461 180166461 C G exonic OR2Y1 NA nonsynonymous SNV OR2Y1:NM_001001657:exon1:c.G598C:p.V200L exonic ENSG00000174339 NA nonsynonymous SNV ENSG00000174339:ENST00000307832:exon1:c.G598C:p.V200L NA NA 5q35.3 NA NA Name=12 NA rs10464105 0.93 0.93 0.909 0.921326 0.9771 1 0.9712 0.7542 0.9734 0.97 1 0.98 0.73 0.9681 1 0.08 T 0.985 D 0.765 P 0.551 N 1.000 P 1.355 L 8.58 T -0.903 T 0.000 T 0.032 2.621 14.72 0.535 0.201 1.806 4.712 2.620866 2.620866 0.14 0.980116 0.80345 NA 0.891 NA 7.9080174 869 6 35477025 35477025 C G exonic TULP1 NA nonsynonymous SNV TULP1:NM_003322:exon8:c.G783C:p.K261N exonic ENSG00000112041 NA nonsynonymous SNV ENSG00000112041:ENST00000322263:exon7:c.G624C:p.K208N,ENSG00000112041:ENST00000229771:exon8:c.G783C:p.K261N Score=443;Name=lod=84 NA 6p21.31 NA NA NA NA rs2064318 0.85 0.85 0.851 0.838458 0.7863 0.8641 0.8833 0.913 0.7331 0.79 0.86 0.9 0.91 0.8215 0.91 1 T 0.0 B 0.0 B 0.018 N 0.994 P -1.895 N -1.32 T -1.034 T 0.039 T 0.179 -1.128 0.119 3.73 0.571 0.813 6.580 -1.127509 NA 1 0.817791 0.889923 NA 0.783 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080090.1;CLNDSDB=.;CLNDSDBID=. 7.9077424 869 6 26505362 26505362 G A exonic BTN1A1 NA nonsynonymous SNV BTN1A1:NM_001732:exon3:c.G637A:p.A213T exonic ENSG00000124557 NA nonsynonymous SNV ENSG00000124557:ENST00000244513:exon3:c.G637A:p.A213T NA NA 6p22.2 NA NA NA NA rs3736781 0.55 0.55 0.517 0.568291 0.4423 0.746 0.5879 0.5129 0.5757 0.46 0.72 0.57 0.47 0.5138 0.72 0.46 T 0.005 B 0.03 B 0.174 N 1.000 P -0.065 N -0.98 T -1.073 T 0.064 T 0.005 1.429 10.72 -10.5 -1.142 -1.603 9.997 1.428849 1.428849 0.04 0.470233 0.519292 NA 0.377 NA 7.9070004 869 12 96374614 96374614 C T exonic HAL NA nonsynonymous SNV HAL:NM_001258333:exon15:c.G691A:p.V231I,HAL:NM_001258334:exon16:c.G1315A:p.V439I,HAL:NM_002108:exon16:c.G1315A:p.V439I exonic ENSG00000084110 NA nonsynonymous SNV ENSG00000084110:ENST00000541929:exon15:c.G691A:p.V231I,ENSG00000084110:ENST00000261208:exon16:c.G1315A:p.V439I,ENSG00000084110:ENST00000538703:exon16:c.G1315A:p.V439I Score=614;Name=lod=418 NA 12q23.1 NA NA NA NA rs7297245 0.89 0.89 0.897 0.911142 0.7952 0.9514 0.879 0.9917 0.9029 0.79 0.96 0.87 0.98 0.8468 0.98 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.35 N -0.94 T -0.928 T 0.000 T 0.083 -0.62 1.246 4.8 0.503 2.160 10.689 -0.619947 NA 1 0.785349 0.955061 NA 0.884 NA 7.9059844 869 10 21415006 21415006 T C exonic C10orf113 NA nonsynonymous SNV C10orf113:NM_001010896:exon2:c.A214G:p.R72G exonic ENSG00000204683 NA nonsynonymous SNV ENSG00000204683:ENST00000377118:exon2:c.A184G:p.R62G,ENSG00000204683:ENST00000534331:exon2:c.A214G:p.R72G NA NA 10p12.31 NA NA NA NA rs11591355 0.14 0.14 0.123 0.14976 0.1342 0.3115 0.1095 0.0061 0.2219 0.13 0.28 0.1 0.01 0.1521 0.28 0 D 0.0 B 0.001 B . . 1.000 P 0 N 1.07 T -0.981 T 0.000 T 0.028 1.953 12.49 -1.21 -0.000 0.502 2.362 1.952931 1.952931 NA 0.141312 0.024966 NA 0.246 NA 7.9057214 869 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 870 17 33749919 33749919 A C exonic SLFN12 NA nonsynonymous SNV SLFN12:NM_018042:exon2:c.T129G:p.S43R exonic ENSG00000172123 NA nonsynonymous SNV ENSG00000172123:ENST00000304905:exon2:c.T129G:p.S43R,ENSG00000172123:ENST00000452764:exon2:c.T129G:p.S43R,ENSG00000172123:ENST00000447040:exon3:c.T129G:p.S43R,ENSG00000172123:ENST00000394562:exon4:c.T129G:p.S43R,ENSG00000172123:ENST00000445092:exon4:c.T129G:p.S43R NA NA 17q12 NA NA NA NA rs1849733 0.42 0.42 0.382 0.376198 0.4881 0.3462 0.5375 0.2685 0.3231 0.52 0.35 0.5 0.27 0.4524 0.52 0.73 T 0.035 B 0.003 B . . 1.000 P 0.125 N 3.93 T -0.912 T 0.000 T 0.257 -0.406 2.1 -6.41 -0.829 -2.082 3.679 -0.406307 NA 0.07 0.489186 0.325238 ID=COSM1179770;OCCURENCE=1(prostate) 0.297 NA 7.9036474 870 20 60989185 60989185 C T exonic RBBP8NL NA nonsynonymous SNV RBBP8NL:NM_080833:exon10:c.G1222A:p.A408T exonic ENSG00000130701 NA nonsynonymous SNV ENSG00000130701:ENST00000252998:exon10:c.G1222A:p.A408T NA NA 20q13.33 NA Name=CTCF NA NA rs10888228 0.13 0.13 0.145 0.124201 0.1352 NA 0.1412 0.2685 0.0337 0.12 0.0035 0.15 0.25 0.1611 0.25 0.65 T 0.0 B 0.0 B 0.299 N 1.000 P -1.355 N 2.3 T -0.957 T 0.000 T 0.024 1.88 12.25 -1.63 -0.228 -0.494 1.239 1.880138 1.880138 0.64 0.134342 0.245125 NA 0.094 NA 7.9026914 870 9 135202829 135202829 T C exonic SETX NA nonsynonymous SNV SETX:NM_015046:exon10:c.A4156G:p.I1386V exonic ENSG00000107290 NA nonsynonymous SNV ENSG00000107290:ENST00000224140:exon10:c.A4156G:p.I1386V,ENSG00000107290:ENST00000372169:exon10:c.A4156G:p.I1386V,ENSG00000107290:ENST00000393220:exon10:c.A4156G:p.I1386V NA NA 9q34.13 NA NA Name=7 NA rs543573 0.59 0.59 0.534 0.55611 0.8618 0.3621 0.7723 0.3056 0.6268 0.86 0.33 0.77 0.33 0.7252 0.86 1 T 0.0 B 0.0 B 0.000 N 1.000 P 0.49 N -1.69 D -0.930 T 0.000 T 0.025 -3.135 0.001 -1.62 -0.538 -0.658 6.226 -3.135389 NA 0.64 0.845698 0.397186 ID=COSM150732;OCCURENCE=1(stomach) 0.645 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081696.3;CLNDSDB=.;CLNDSDBID=. 7.9006354 870 19 56104136 56104136 T C exonic FIZ1 NA nonsynonymous SNV FIZ1:NM_032836:exon3:c.A1171G:p.T391A exonic ENSG00000179943 NA nonsynonymous SNV ENSG00000179943:ENST00000221665:exon3:c.A1171G:p.T391A NA NA 19q13.42 NA NA NA NA rs7247236 0.76 0.76 0.752 0.784944 0.8062 0.5585 0.7824 0.9017 0.8405 0.81 0.57 0.79 0.89 0.7981 0.89 0 D 0.0 B 0.0 B . . 1.000 P -0.55 N 3.08 T -1.053 T 0.000 T 0.069 -2.696 0 -2.05 -0.613 -1.888 0.408 -2.695867 NA 0.49 0.829478 0.894251 NA 0.283 NA 7.8995554 870 6 30313268 30313268 G A exonic RPP21,TRIM39-RPP21 NA synonymous SNV RPP21:NM_001199120:exon3:c.G183A:p.R61R,RPP21:NM_001199121:exon3:c.G159A:p.R53R,RPP21:NM_024839:exon3:c.G159A:p.R53R,TRIM39-RPP21:NM_001199119:exon8:c.G1206A:p.R402R exonic ENSG00000241370,ENSG00000248167 NA synonymous SNV ENSG00000241370:ENST00000428040:exon2:c.G228A:p.R76R,ENSG00000241370:ENST00000433076:exon3:c.G183A:p.R61R,ENSG00000241370:ENST00000436442:exon3:c.G159A:p.R53R,ENSG00000241370:ENST00000442966:exon3:c.G159A:p.R53R,ENSG00000248167:ENST00000513556:exon8:c.G942A:p.R314R Score=346;Name=lod=34 NA 6p22.1 NA Name=Egr-1,ZNF263,Pol2,HA-E2F1,CTCF Name=140 NA rs11967 0.2 0.2 0.16 0.154553 0.2624 0.2431 0.1974 0.0265 0.0951 0.28 0.25 0.2 0.03 0.2579 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.440996 3.440996 NA 0.246857 0.058979 NA 0.145 NA 7.8995096 870 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 870 1 108185301 108185301 C G exonic VAV3 NA nonsynonymous SNV VAV3:NM_001079874:exon3:c.G174C:p.Q58H,VAV3:NM_006113:exon20:c.G1854C:p.Q618H exonic ENSG00000134215 NA nonsynonymous SNV ENSG00000134215:ENST00000525231:exon2:c.G128C:p.S43T,ENSG00000134215:ENST00000529413:exon2:c.G128C:p.S43T,ENSG00000134215:ENST00000544443:exon2:c.G66C:p.Q22H,ENSG00000134215:ENST00000415432:exon3:c.G174C:p.Q58H,ENSG00000134215:ENST00000370056:exon20:c.G1854C:p.Q618H,ENSG00000134215:ENST00000527011:exon20:c.G1854C:p.Q618H Score=383;Name=lod=48 NA 1p13.3 NA NA NA NA rs12403266 0.14 0.14 0.138 0.152157 0.1302 0.2262 0.1671 0.0469 0.2301 0.12 0.24 0.15 0.04 0.1545 0.24 0.17 T 0.0 B 0.001 B 0.032 N 0.000 P -0.205 N 2.56 T -1.022 T 0.018 T 0.112 -1.336 0.031 -0.382 -0.270 -0.104 6.430 -1.336155 NA 0.08 0.149767 0.078075 ID=COSM146568;OCCURENCE=1(stomach) 0.167 NA 7.8988664 870 5 41008780 41008780 A G exonic MROH2B NA nonsynonymous SNV MROH2B:NM_173489:exon33:c.T3536C:p.L1179P exonic ENSG00000171495 NA nonsynonymous SNV ENSG00000171495:ENST00000506092:exon23:c.T2201C:p.L734P,ENSG00000171495:ENST00000399564:exon33:c.T3536C:p.L1179P Score=358;Name=lod=38 NA 5p13.1 NA NA NA NA rs2271704 0.78 0.78 0.768 0.78155 0.8141 0.5913 0.8343 0.8669 0.7914 0.81 0.61 0.86 0.87 0.8028 0.88 1 T 0.0 B 0.0 B 0.113 N 0.427 P -0.695 N 5.18 T -1.034 T 0.000 T 0.199 -1.078 0.164 4.18 0.875 1.511 7.49 -1.078163 NA 0.58 0.817598 0.880999 NA 0.783 NA 7.8988354 870 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=ERalpha_a,GATA-2 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 870 12 119916900 119916900 A G exonic CCDC60 NA nonsynonymous SNV CCDC60:NM_178499:exon4:c.A343G:p.T115A exonic ENSG00000183273 NA nonsynonymous SNV ENSG00000183273:ENST00000327554:exon4:c.A343G:p.T115A NA NA 12q24.23 NA NA NA NA rs2519540 0.08 0.08 0.066 0.0537141 0.164 NA 0.0965 0.0159 0.0164 0.17 NA 0.1 0.03 0.1113 0.17 . . 0.01 B 0.009 B 0.059 N 1.000 P 2.19 M 1.93 T -1.064 T 0.000 T 0.016 1.22 9.951 -0.979 0.024 -0.272 3.953 1.220027 NA 0.07 0.160116 0.030413 NA 0.029 NA 7.8979174 870 8 144775871 144775871 C A exonic ZNF707 NA nonsynonymous SNV ZNF707:NM_001100599:exon5:c.C287A:p.P96H,ZNF707:NM_001100598:exon6:c.C287A:p.P96H,ZNF707:NM_173831:exon7:c.C287A:p.P96H exonic ENSG00000181135 NA nonsynonymous SNV ENSG00000181135:ENST00000526315:exon4:c.C179A:p.P60H,ENSG00000181135:ENST00000454097:exon5:c.C287A:p.P96H,ENSG00000181135:ENST00000530574:exon5:c.C277A:p.L93I,ENSG00000181135:ENST00000534303:exon5:c.C287A:p.P96H,ENSG00000181135:ENST00000358656:exon6:c.C287A:p.P96H,ENSG00000181135:ENST00000418203:exon6:c.C287A:p.P96H,ENSG00000181135:ENST00000532158:exon7:c.C287A:p.P96H,ENSG00000181135:ENST00000532205:exon8:c.C287A:p.P96H NA NA 8q24.3 NA NA NA NA rs6987308 0.58 0.58 0.598 0.548323 0.8449 0.2282 0.6354 0.4977 0.5798 0.85 0.23 0.69 0.49 0.728 0.86 0.44 T 0.0 B 0.0 B . . 1.000 P 0 N 5.77 T -0.982 T 0.000 T 0.254 -0.788 0.708 -2.73 -3.902 -4.565 0.882 -0.788334 NA 0.17 0.863887 0.536341 NA 0.667 NA 7.8965464 870 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 870 11 92590448 92590448 A G exonic FAT3 NA nonsynonymous SNV FAT3:NM_001008781:exon19:c.A11434G:p.S3812G exonic ENSG00000165323 NA nonsynonymous SNV ENSG00000165323:ENST00000533797:exon2:c.A439G:p.S147G,ENSG00000165323:ENST00000298047:exon19:c.A11434G:p.S3812G,ENSG00000165323:ENST00000409404:exon19:c.A11434G:p.S3812G,ENSG00000165323:ENST00000525166:exon19:c.A10984G:p.S3662G Score=243;Name=lod=13 NA 11q14.3 NA NA NA NA rs4753069 0.8 0.8 0.804 0.828474 0.8121 0.6706 0.7968 0.9191 0.908 0.8 0.69 0.8 0.93 0.8175 0.93 0.57 T 0.0 B 0.0 B . . 0.000 P -0.6 N 1.64 T -1.008 T 0.000 T 0.046 0.009 4.059 4.1 0.446 2.301 11.560 0.008696 NA 1 0.807646 0.912358 NA 0.855 NA 7.8960874 870 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 870 1 43618596 43618596 G A exonic FAM183A NA synonymous SNV FAM183A:NM_001101376:exon3:c.G291A:p.E97E exonic ENSG00000186973 NA synonymous SNV ENSG00000186973:ENST00000335282:exon3:c.G291A:p.E97E,ENSG00000186973:ENST00000409396:exon3:c.G291A:p.E97E,ENSG00000186973:ENST00000410048:exon3:c.G207A:p.E69E Score=366;Name=lod=41 NA 1p34.2 NA Name=ELF1_(SC-631),KAP1,CTCF Name=29 NA rs12074551 0.15 0.15 0.149 0.119808 0.2833 NA 0.1455 0.0575 0.1411 0.3 NA 0.18 0.07 0.2376 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.870549 NA NA 0.250597 0.068695 NA 0.275 NA 7.8951696 870 19 14083761 14083761 T C exonic RFX1 NA nonsynonymous SNV RFX1:NM_002918:exon9:c.A1108G:p.T370A exonic ENSG00000132005 NA nonsynonymous SNV ENSG00000132005:ENST00000254325:exon9:c.A1108G:p.T370A NA NA 19p13.12 Score=723;Name=V$HOX13_01 NA NA NA rs2305780 0.52 0.52 0.508 0.53135 0.4742 0.4454 0.5 0.7496 0.4059 0.46 0.43 0.52 0.71 0.5001 0.72 0.75 T 0.017 B 0.038 B 0.114 N 1.000 P 0.69 N 1.05 T -0.950 T 0.000 T 0.016 1.035 9.229 -2.85 -0.867 0.368 0.627 1.035327 NA 0.15 0.46388 0.718356 ID=COSM438704;OCCURENCE=1(breast) 0.101 NA 7.8951534 870 22 45749983 45749983 G T exonic SMC1B NA nonsynonymous SNV SMC1B:NM_148674:exon21:c.C3148A:p.L1050M exonic ENSG00000077935 NA nonsynonymous SNV ENSG00000077935:ENST00000357450:exon21:c.C3148A:p.L1050M,ENSG00000077935:ENST00000404354:exon21:c.C3148A:p.L1050M Score=536;Name=lod=202 NA 22q13.31 NA NA NA NA rs5764698 0.35 0.35 0.305 0.288139 0.492 0.2946 0.4654 0.0477 0.271 0.5 0.33 0.43 0.06 0.4289 0.52 0.11 T 0.0 B 0.003 B 0.392 N 1.000 P 0.345 N -1.04 T -0.959 T 0.000 T 0.025 1.67 11.54 2.38 0.107 0.418 2.741 1.670439 1.670439 0.22 0.517351 0.114432 NA 0.196 NA 7.8950824 871 5 161528280 161528280 C T exonic GABRG2 NA synonymous SNV GABRG2:NM_000816:exon5:c.C588T:p.N196N,GABRG2:NM_198903:exon5:c.C588T:p.N196N,GABRG2:NM_198904:exon5:c.C588T:p.N196N exonic ENSG00000113327 NA synonymous SNV ENSG00000113327:ENST00000522053:exon4:c.C303T:p.N101N,ENSG00000113327:ENST00000356592:exon5:c.C588T:p.N196N,ENSG00000113327:ENST00000361925:exon5:c.C588T:p.N196N,ENSG00000113327:ENST00000414552:exon5:c.C588T:p.N196N,ENSG00000113327:ENST00000393933:exon6:c.C303T:p.N101N Score=658;Name=lod=630 NA 5q34 Score=903;Name=V$CEBPB_01 NA NA NA rs211037 0.4 0.4 0.388 0.371605 0.2435 0.6012 0.2507 0.4682 0.2219 0.24 0.57 0.24 0.54 0.2854 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.072969 NA NA 0.242791 0.432592 ID=COSM150008;OCCURENCE=1(stomach) 0.297 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079320.3;CLNDSDB=.;CLNDSDBID=. 7.8949756 871 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 871 19 5844649 5844649 G A exonic FUT3 NA nonsynonymous SNV FUT3:NM_001097641:exon2:c.C202T:p.R68W,FUT3:NM_000149:exon3:c.C202T:p.R68W,FUT3:NM_001097639:exon3:c.C202T:p.R68W,FUT3:NM_001097640:exon3:c.C202T:p.R68W exonic ENSG00000171124 NA nonsynonymous SNV ENSG00000171124:ENST00000458379:exon2:c.C202T:p.R68W,ENSG00000171124:ENST00000303225:exon3:c.C202T:p.R68W,ENSG00000171124:ENST00000587048:exon3:c.C202T:p.R68W,ENSG00000171124:ENST00000589620:exon3:c.C202T:p.R68W,ENSG00000171124:ENST00000589714:exon3:c.C202T:p.R68W,ENSG00000171124:ENST00000589918:exon3:c.C202T:p.R68W Score=389;Name=lod=51 NA 19p13.3 NA NA NA NA rs812936 0.89 0.89 0.874 0.881589 0.8111 0.9692 0.8602 0.8956 0.8599 0.82 0.97 0.87 0.91 0.8277 0.97 1 T 0.0 B 0.0 B 0.000 N 1.000 P . . 2.55 T -0.958 T 0.000 T 0.125 -1.15 0.103 2.33 0.116 2.964 5.963 -1.149919 NA 1 0.8 0.887426 NA 0.862 NA 7.8945334 871 1 109395105 109395105 C T exonic AKNAD1 NA nonsynonymous SNV AKNAD1:NM_152763:exon2:c.G182A:p.S61N exonic ENSG00000162641 NA nonsynonymous SNV ENSG00000162641:ENST00000369994:exon1:c.G182A:p.S61N,ENSG00000162641:ENST00000369995:exon2:c.G182A:p.S61N,ENSG00000162641:ENST00000370001:exon2:c.G182A:p.S61N,ENSG00000162641:ENST00000461774:exon2:c.G182A:p.S61N,ENSG00000162641:ENST00000472781:exon2:c.G182A:p.S61N,ENSG00000162641:ENST00000474186:exon3:c.G182A:p.S61N NA NA 1p13.3 NA NA Name=40 NA rs1277207 0.86 0.86 0.853 0.867013 0.7903 0.9395 0.879 0.8797 0.8456 0.79 0.94 0.85 0.88 0.8324 0.94 0.74 T 0.0 B 0.0 B 0.050 N 1.000 P -1.1 N 3.24 T -0.948 T 0.002 T 0.016 0.196 5.058 -4.24 -1.527 -0.410 6.609 0.196413 NA 0.53 0.816279 0.866319 NA 0.826 NA 7.8943544 871 1 22307538 22307538 C T exonic CELA3B NA nonsynonymous SNV CELA3B:NM_007352:exon4:c.C235T:p.R79W exonic ENSG00000219073 NA nonsynonymous SNV ENSG00000219073:ENST00000337107:exon4:c.C235T:p.R79W,ENSG00000219073:ENST00000374666:exon4:c.C283T:p.R95W NA NA 1p36.12 NA NA NA NA rs7528405 0.89 0.89 0.891 0.893371 0.992 0.755 0.9625 0.8442 0.9519 1 0.71 0.97 0.88 0.9555 1 0.18 T 0.962 D 0.598 P 0.718 N 1.000 P 2.33 M -2.49 D -0.923 T 0.000 T 0.45 1.514 11.01 -0.773 -0.086 -0.188 1.847 1.513694 1.513694 0.1 0.992093 0.857013 NA 0.833 NA 7.8937404 871 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=Sin3Ak-20,TBP,Pol2,HEY1 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 871 3 38170810 38170810 C G exonic ACAA1 NA nonsynonymous SNV ACAA1:NM_001607:exon6:c.G516C:p.E172D exonic ENSG00000060971 NA nonsynonymous SNV ENSG00000060971:ENST00000450296:exon4:c.G393C:p.E131D,ENSG00000060971:ENST00000333167:exon6:c.G516C:p.E172D,ENSG00000060971:ENST00000544624:exon6:c.G60C:p.E20D NA NA 3p22.2 NA NA NA NA rs156265 0.17 0.17 0.153 0.136781 0.1431 0.3244 0.1326 0.025 0.091 0.14 0.33 0.14 0.03 0.153 0.33 0.39 T 0.001 B 0.003 B 0.569 N 0.007 P -0.18 N -2.67 D -0.926 T 0.000 T 0.194 1.8 11.98 1.68 0.791 0.247 3.317 1.800208 1.800208 0.35 0.145465 0.046754 NA 0.116 NA 7.8917684 871 5 176728817 176728817 A G intronic RAB24 NA NA NA intronic ENSG00000169228 NA NA NA Score=604;Name=lod=381 NA 5q35.3 Score=909;Name=V$MEIS1_01 Name=JunD,CEBPB,EBF,AP-2gamma,Pol2(b),STAT3,Pol2-4H8,EBF1_(C-8),NFKB,ZEB1_(SC-25388),c-Jun Name=44 NA rs28710014 0.12 0.12 0.124 0.150958 0.0199 0.0188 0.0591 0.4561 0.0746 0.02 0.01 0.05 0.43 0.0614 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745384 NA NA 0.026977 0.375851 NA 0.159 NA 7.891723 871 5 159835658 159835658 A G exonic SLU7 NA nonsynonymous SNV SLU7:NM_006425:exon7:c.T686C:p.M229T exonic ENSG00000164609 NA nonsynonymous SNV ENSG00000164609:ENST00000297151:exon7:c.T686C:p.M229T Score=554;Name=lod=239 NA 5q33.3 NA NA NA NA rs2961944 0.61 0.61 0.567 NA NA NA NA NA NA 0.72 0.52 0.72 0.49 0.707 0.74 0.61 T 0.0 B 0.0 B 0.108 N 1.000 P -0.69 N 1.05 T -0.976 T 0.000 T 0.027 0.811 8.258 -2.46 -0.918 0.560 13.110 0.81055 NA 0.89 0.737253 0.559464 NA 0.667 NA 7.8890804 871 X 35821127 35821127 C T exonic MAGEB16 NA stopgain MAGEB16:NM_001099921:exon2:c.C814T:p.R272X exonic ENSG00000189023 NA stopgain ENSG00000189023:ENST00000399985:exon2:c.C814T:p.R272X,ENSG00000189023:ENST00000399988:exon2:c.C814T:p.R272X,ENSG00000189023:ENST00000399989:exon2:c.C814T:p.R272X,ENSG00000189023:ENST00000399987:exon3:c.C814T:p.R272X,ENSG00000189023:ENST00000399992:exon3:c.C910T:p.R304X NA NA Xp21.1 Score=788;Name=V$CDPCR3_01 NA NA NA rs4829392 0.61 0.61 0.63831 NA NA NA NA NA NA 0.54 0.74 0.58 0.6 0.5787 0.74 1 T . . . . 0.030 N 0.000 P . . . . . . . . . 3.06 16.21 -1.27 -0.423 0.056 5.925 3.060037 3.060037 1 0.532253 0.56732 NA 0.493 NA 7.889047 871 6 29394926 29394926 C T exonic OR11A1 NA nonsynonymous SNV OR11A1:NM_013937:exon1:c.G493A:p.A165T exonic ENSG00000204694 NA nonsynonymous SNV ENSG00000204694:ENST00000377147:exon1:c.G493A:p.A165T,ENSG00000204694:ENST00000377148:exon2:c.G493A:p.A165T,ENSG00000204694:ENST00000377149:exon5:c.G493A:p.A165T NA NA 6p22.1 Score=814;Name=V$HEN1_01 NA NA NA rs9257857 0.12 0.12 0.086 0.117812 0.1471 0.0794 0.1888 0.0507 0.1677 0.16 0.06 0.19 0.06 0.1468 0.19 0.67 T 0.034 B 0.026 B 0.385 N 1.000 P 1.005 L 3.13 T -0.932 T 0.005 T 0.033 1.138 9.637 0.719 -0.075 -0.220 6.173 1.137993 NA 0.16 0.151163 0.05666 NA 0.109 NA 7.8882704 871 19 35644855 35644855 T C UTR3 FXYD7 NM_022006:c.*36T>C NA NA UTR3 ENSG00000221946 ENST00000270310:c.*36T>C,ENST00000586063:c.*36T>C,ENST00000588265:c.*36T>C NA NA Score=431;Name=lod=75 NA 19q13.12 Score=784;Name=V$PAX5_02 Name=CTCF_(SC-5916),Pol2-4H8,TAF1,ELF1_(SC-631),HA-E2F1,Pol2,E2F6_(H-50),CTCF,HDAC2_(SC-6296),ZBTB7A_(SC-34508),Egr-1,CTCFL_(SC-98982),SMC3_(ab9263),Rad21 Name=64 NA rs62111370 0.17 0.17 0.134 0.14397 0.1471 0.1577 0.1988 0.1641 0.0603 0.14 0.15 0.19 0.2 0.1462 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.59646 NA NA 0.151779 0.163409 NA 0.196 NA 7.8882544 871 4 13604182 13604182 T C exonic BOD1L1 NA nonsynonymous SNV BOD1L1:NM_148894:exon10:c.A4342G:p.T1448A exonic ENSG00000038219 NA nonsynonymous SNV ENSG00000038219:ENST00000040738:exon10:c.A4342G:p.T1448A NA NA 4p15.33 NA NA NA NA rs17745676 0.12 0.12 0.125 0.132788 0.1501 0.003 0.2089 0.1415 0.183 0.15 NA 0.19 0.16 0.1445 0.19 0.17 T 0.009 B 0.007 B 0.012 N 1.000 P 0.895 L 3.19 T -0.955 T 0.000 T 0.041 1.232 9.995 2.86 0.327 -0.055 7.954 1.231917 NA 0.05 0.150581 0.148661 NA 0.116 NA 7.8881524 871 17 74261677 74261677 T C exonic UBALD2 NA synonymous SNV UBALD2:NM_182565:exon1:c.T91C:p.L31L exonic ENSG00000185262 NA synonymous SNV ENSG00000185262:ENST00000327490:exon1:c.T91C:p.L31L Score=662;Name=lod=651 NA 17q25.1 Score=827;Name=V$HEN1_02 Name=Sin3Ak-20 Name=4 NA rs2585751 0.66 0.66 0.66 0.714457 0.5547 0.7024 0.6412 0.8843 0.7137 0.5 0.72 0.6 0.87 0.6417 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 1.629509 1.629509 NA 0.582435 0.837132 NA NA NA 7.8878316 871 15 40898643 40898643 G C exonic CASC5 NA nonsynonymous SNV CASC5:NM_144508:exon4:c.G128C:p.R43T,CASC5:NM_170589:exon4:c.G128C:p.R43T exonic ENSG00000137812 NA nonsynonymous SNV ENSG00000137812:ENST00000346991:exon4:c.G128C:p.R43T,ENSG00000137812:ENST00000399668:exon4:c.G128C:p.R43T,ENSG00000137812:ENST00000527044:exon4:c.G128C:p.R43T NA NA 15q15.1 NA NA NA NA rs7177192 0.66 0.66 0.667 0.653754 0.8559 0.3542 0.6124 0.7307 0.68 0.86 0.32 0.66 0.74 0.7456 0.86 1 T 0.0 B 0.0 B 0.066 N 1.000 P -1.04 N 1.93 T -0.968 T 0.000 T 0.032 -0.852 0.545 -4.84 -1.200 -0.480 2.286 -0.852082 NA 0.98 0.844111 0.772727 ID=COSM147880;OCCURENCE=1(stomach) 0.645 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116558.1;CLNDSDB=.;CLNDSDBID=. 7.8877224 871 3 195517553 195517553 A C exonic MUC4 NA nonsynonymous SNV MUC4:NM_018406:exon2:c.T898G:p.F300V exonic ENSG00000145113 NA nonsynonymous SNV ENSG00000145113:ENST00000462323:exon2:c.T898G:p.F300V,ENSG00000145113:ENST00000463781:exon2:c.T898G:p.F300V,ENSG00000145113:ENST00000466475:exon2:c.T898G:p.F300V,ENSG00000145113:ENST00000470451:exon2:c.T898G:p.F300V,ENSG00000145113:ENST00000475231:exon2:c.T898G:p.F300V,ENSG00000145113:ENST00000477086:exon2:c.T898G:p.F300V,ENSG00000145113:ENST00000477756:exon2:c.T898G:p.F300V,ENSG00000145113:ENST00000478156:exon2:c.T898G:p.F300V,ENSG00000145113:ENST00000479406:exon2:c.T898G:p.F300V,ENSG00000145113:ENST00000480843:exon2:c.T898G:p.F300V NA NA 3q29 NA NA NA NA rs882605 0.79 0.79 0.82 0.773762 0.84 0.8155 0.6873 0.8056 0.681 0.84 0.78 0.68 0.82 0.7809 0.84 0.65 T 0.003 B 0.0 B . . 1.000 P . . 1.76 T -1.016 T 0.000 T 0.051 0.098 4.525 -7.14 -3.073 -4.306 0.344 0.097521 NA 0.96 0.824742 0.828993 NA 0.833 NA 7.8876914 871 1 110300441 110300441 G A exonic EPS8L3 NA nonsynonymous SNV EPS8L3:NM_024526:exon10:c.C877T:p.H293Y,EPS8L3:NM_133181:exon10:c.C877T:p.H293Y,EPS8L3:NM_139053:exon10:c.C880T:p.H294Y exonic ENSG00000198758 NA nonsynonymous SNV ENSG00000198758:ENST00000361852:exon10:c.C877T:p.H293Y,ENSG00000198758:ENST00000361965:exon10:c.C877T:p.H293Y,ENSG00000198758:ENST00000369805:exon10:c.C880T:p.H294Y Score=493;Name=lod=134 NA 1p13.3 NA NA NA NA rs3818562 0.48 0.48 0.444 0.473243 0.4712 0.7907 0.4366 0.1596 0.5982 0.49 0.79 0.43 0.16 0.4843 0.79 1 T 0.0 B 0.0 B 0.002 N 1.000 P -1.465 N 2.76 T -0.962 T 0.012 T 0.129 -0.573 1.42 2.69 0.342 0.385 8.934 -0.573132 NA 1 0.491163 0.232183 NA 0.478 NA 7.8866704 871 4 13604418 13604418 G C exonic BOD1L1 NA nonsynonymous SNV BOD1L1:NM_148894:exon10:c.C4106G:p.A1369G exonic ENSG00000038219 NA nonsynonymous SNV ENSG00000038219:ENST00000040738:exon10:c.C4106G:p.A1369G NA NA 4p15.33 NA NA NA NA rs17745712 0.12 0.12 0.124 0.138778 0.1501 0.003 0.2133 0.1619 0.183 0.15 NA 0.2 0.17 0.1459 0.2 0.77 T 0.0 B 0.0 B 0.290 N 1.000 P -0.695 N 3.23 T -0.921 T 0.000 T 0.017 -2.003 0.007 2.24 -0.107 -0.124 5.425 -2.002897 NA 0.85 0.150698 0.162279 NA 0.123 NA 7.8866354 871 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 871 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 871 3 47956424 47956424 C T exonic MAP4 NA nonsynonymous SNV MAP4:NM_001134364:exon8:c.G1882A:p.V628I,MAP4:NM_002375:exon8:c.G1882A:p.V628I exonic ENSG00000047849 NA nonsynonymous SNV ENSG00000047849:ENST00000360240:exon8:c.G1882A:p.V628I,ENSG00000047849:ENST00000395734:exon8:c.G1882A:p.V628I,ENSG00000047849:ENST00000426837:exon9:c.G1933A:p.V645I NA NA 3p21.31 NA NA NA NA rs1137524 0.34 0.34 0.353 0.388778 0.3002 0.2847 0.3963 0.5628 0.3466 0.29 0.25 0.36 0.49 0.3338 0.53 0.22 T 0.49 P 0.038 B . . 1.000 P 2.19 M 3.1 T -0.956 T 0.000 T 0.039 0.409 6.223 0.416 -0.054 -0.083 1.698 0.40925 NA 0 0.313488 0.534044 NA 0.355 NA 7.8858454 871 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 872 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 872 4 15964670 15964670 C T exonic FGFBP2 NA nonsynonymous SNV FGFBP2:NM_031950:exon1:c.G83A:p.S28N exonic ENSG00000137441 NA nonsynonymous SNV ENSG00000137441:ENST00000259989:exon1:c.G83A:p.S28N NA NA 4p15.32 NA NA NA NA rs35496730 0.12 0.12 0.094 0.121006 0.1541 0.0853 0.1297 0.0794 0.1738 0.15 0.08 0.14 0.08 0.1427 0.15 0.48 T 0.001 B 0.006 B 0.584 U 1.000 P 0.55 N 2.37 T -0.961 T 0.000 T 0.008 -0.055 3.733 -2.08 -0.762 -0.015 3.579 -0.05522 NA 0.24 0.15407 0.096459 NA 0.065 NA 7.8824634 872 2 55912120 55912120 T C exonic PNPT1 NA nonsynonymous SNV PNPT1:NM_033109:exon4:c.A361G:p.I121V exonic ENSG00000138035 NA nonsynonymous SNV ENSG00000138035:ENST00000260604:exon4:c.A361G:p.I121V,ENSG00000138035:ENST00000415374:exon4:c.A361G:p.I121V,ENSG00000138035:ENST00000447944:exon4:c.A361G:p.I121V Score=653;Name=lod=601 NA 2p16.1 NA NA NA NA rs782572 0.38 0.38 0.335 0.328075 0.5209 0.1498 0.4582 0.3238 0.227 0.54 0.15 0.48 0.32 0.4287 0.54 0.26 T 0.001 B 0.005 B 0.040 N 0.554 P -0.345 N -0.01 T -0.920 T 0.000 T 0.044 1.69 11.61 0.133 0.367 2.017 1.961 1.690042 1.690042 0.19 0.501628 0.339991 NA 0.355 NA 7.8821054 872 19 49640002 49640002 G T exonic PPFIA3 NA nonsynonymous SNV PPFIA3:NM_003660:exon15:c.G1687T:p.A563S exonic ENSG00000177380 NA nonsynonymous SNV ENSG00000177380:ENST00000602351:exon14:c.G1687T:p.A563S,ENSG00000177380:ENST00000334186:exon15:c.G1687T:p.A563S,ENSG00000177380:ENST00000602655:exon15:c.G1687T:p.A563S Score=504;Name=lod=149 NA 19q13.33 NA NA NA NA rs2303053 0.42 0.42 0.417 0.443291 0.4493 0.2202 0.4582 0.562 0.4959 0.46 0.22 0.51 0.54 0.5478 0.55 0.1 T 0.035 B 0.015 B 0.079 U 0.138 P 0.61 N 0.88 T -0.923 T 0.000 T 0.07 1.894 12.29 1.15 0.413 1.031 8.643 1.893553 1.893553 0.1 0.455318 0.55025 NA 0.471 NA 7.8809154 872 22 19959473 19959473 C T exonic ARVCF NA nonsynonymous SNV ARVCF:NM_001670:exon18:c.G2717A:p.R906Q exonic ENSG00000099889 NA nonsynonymous SNV ENSG00000099889:ENST00000406259:exon15:c.G2699A:p.R900Q,ENSG00000099889:ENST00000406522:exon15:c.G2510A:p.R837Q,ENSG00000099889:ENST00000344269:exon16:c.G2528A:p.R843Q,ENSG00000099889:ENST00000401994:exon16:c.G2528A:p.R843Q,ENSG00000099889:ENST00000263207:exon18:c.G2717A:p.R906Q Score=462;Name=lod=101 NA 22q11.21 Score=877;Name=V$SPZ1_01 NA NA NA rs165815 0.66 0.66 0.662 0.616813 0.8459 0.5337 0.621 0.4304 0.7157 0.86 0.55 0.69 0.45 0.7512 0.86 . . 0.01 B 0.001 B 0.627 N 0.547 P 0.55 N -0.05 T -0.986 T 0.000 T 0.062 0.059 4.322 1.91 1.046 0.141 4.879 0.059172 NA 0.34 0.856628 0.49773 ID=COSM444706;OCCURENCE=1(breast) 0.768 NA 7.8796054 872 1 207795320 207795320 A G exonic CR1 NA nonsynonymous SNV CR1:NM_000573:exon36:c.A5905G:p.T1969A,CR1:NM_000651:exon44:c.A7255G:p.T2419A exonic ENSG00000203710 NA nonsynonymous SNV ENSG00000203710:ENST00000367051:exon36:c.A5905G:p.T1969A,ENSG00000203710:ENST00000367052:exon36:c.A5905G:p.T1969A,ENSG00000203710:ENST00000367053:exon36:c.A5905G:p.T1969A,ENSG00000203710:ENST00000400960:exon36:c.A5905G:p.T1969A,ENSG00000203710:ENST00000367049:exon44:c.A7255G:p.T2419A NA NA 1q32.2 NA NA NA NA rs2296160 0.79 0.79 0.761 0.828075 0.8221 0.6885 0.9207 0.8162 0.9284 0.8 0.67 0.92 0.81 0.8159 0.92 0.8 T 0.0 B 0.001 B . . 1.000 P 0.345 N 1.61 T -1.013 T 0.000 T 0.243 -1.261 0.048 -8.25 -5.606 -3.960 0.423 -1.260967 NA 1 0.816796 0.817464 NA 0.681 NA 7.8785374 872 2 48023115 48023115 T C exonic MSH6 NA synonymous SNV MSH6:NM_000179:exon3:c.T540C:p.D180D exonic ENSG00000116062 NA synonymous SNV ENSG00000116062:ENST00000234420:exon3:c.T540C:p.D180D,ENSG00000116062:ENST00000411819:exon3:c.T243C:p.D81D,ENSG00000116062:ENST00000420813:exon3:c.T243C:p.D81D,ENSG00000116062:ENST00000455383:exon3:c.T243C:p.D81D Score=596;Name=lod=353 NA 2p16.3 Score=760;Name=V$PAX6_01 NA NA NA rs1800935 0.17 0.17 0.16 0.135184 0.2873 NA 0.1772 0.149 0.0695 0.29 NA 0.22 0.16 0.2144 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.853591 NA NA 0.286628 0.180436 NA 0.188 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=exp|mult|single;CLNACC=RCV000030275.2|RCV000035326.2|RCV000131276.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|.|MedGen;CLNDSDBID=NBK1211:C0009405:315058005|.|C0027672 7.8783386 872 4 2306053 2306053 A G exonic ZFYVE28 NA nonsynonymous SNV ZFYVE28:NM_001172656:exon7:c.T1924C:p.S642P,ZFYVE28:NM_001172659:exon8:c.T1804C:p.S602P,ZFYVE28:NM_020972:exon8:c.T2014C:p.S672P exonic ENSG00000159733 NA nonsynonymous SNV ENSG00000159733:ENST00000511071:exon7:c.T1924C:p.S642P,ENSG00000159733:ENST00000290974:exon8:c.T2014C:p.S672P,ENSG00000159733:ENST00000515312:exon8:c.T1804C:p.S602P NA NA 4p16.3 NA NA NA NA rs661301 0.74 0.74 0.725 0.723842 0.833 0.6806 0.7608 0.6536 0.7249 0.82 0.69 0.78 0.67 0.7923 0.83 0.38 T 0.0 B 0.0 B 0.001 N 1.000 P 0 N 0.32 T -1.006 T 0.000 T 0.025 0.85 8.438 -6.27 -2.013 -1.570 2.167 0.850079 NA 0.42 0.829842 0.691504 ID=COSM447735;OCCURENCE=1(breast) 0.71 NA 7.8781914 872 16 2260567 2260567 C T exonic BRICD5 NA nonsynonymous SNV BRICD5:NM_182563:exon2:c.G136A:p.V46I exonic ENSG00000182685 NA nonsynonymous SNV ENSG00000182685:ENST00000328540:exon2:c.G136A:p.V46I,ENSG00000182685:ENST00000562360:exon2:c.G136A:p.V46I,ENSG00000182685:ENST00000566018:exon2:c.G136A:p.V46I NA NA 16p13.3 Score=740;Name=V$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 872 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 872 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 872 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 872 11 558884 558884 C T exonic C11orf35 NA nonsynonymous SNV C11orf35:NM_173573:exon2:c.G130A:p.A44T exonic ENSG00000185522 NA nonsynonymous SNV ENSG00000185522:ENST00000329451:exon2:c.G130A:p.A44T,ENSG00000185522:ENST00000486629:exon2:c.G160A:p.A54T,ENSG00000185522:ENST00000441853:exon3:c.G151A:p.A51T NA NA 11p15.5 NA NA NA NA rs2061586 0.77 0.77 0.73 0.758187 0.8211 0.8591 0.8516 0.5643 0.7853 0.81 0.86 0.84 0.54 0.8094 0.86 1 T 0.0 B 0.0 B 0.599 N 1.000 P -0.805 N 0.97 T -0.951 T 0.000 T 0.212 -0.322 2.47 -7.0 -1.451 -1.152 0.247 -0.322116 NA 0.62 0.826041 0.598502 NA 0.761 NA 7.8767924 872 7 20778646 20778646 G A exonic ABCB5 NA nonsynonymous SNV ABCB5:NM_178559:exon15:c.G1573A:p.E525K,ABCB5:NM_001163941:exon24:c.G2908A:p.E970K exonic ENSG00000004846 NA nonsynonymous SNV ENSG00000004846:ENST00000441315:exon4:c.G409A:p.E137K,ENSG00000004846:ENST00000258738:exon15:c.G1573A:p.E525K,ENSG00000004846:ENST00000404938:exon24:c.G2908A:p.E970K Score=497;Name=lod=140 NA 7p21.1 NA NA NA NA rs6461515 0.8 0.8 0.785 0.756789 0.8241 0.8214 0.8573 0.6392 0.7086 0.82 0.87 0.85 0.66 0.8033 0.87 0.14 T 0.066 B 0.046 B 0.003 N 0.000 P 1.04 L -1.36 T -0.975 T 0.000 T 0.191 1.644 11.45 4.11 1.490 0.885 7.685 1.643741 1.643741 0.13 0.829186 0.665683 NA 0.79 NA 7.8767474 872 4 170663235 170663235 C T exonic C4orf27 NA nonsynonymous SNV C4orf27:NM_017867:exon5:c.G521A:p.R174K exonic ENSG00000056050 NA nonsynonymous SNV ENSG00000056050:ENST00000393381:exon5:c.G521A:p.R174K Score=514;Name=lod=163 NA 4q33 NA NA NA NA rs1047642 0.82 0.82 0.797 0.789537 0.8191 0.9087 0.8473 0.6717 0.7546 0.83 0.91 0.85 0.66 0.8177 0.91 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.365 N 1.21 T -0.964 T 0.000 T 0.021 -1.35 0.029 4.63 0.739 3.669 10.439 -1.350096 NA 1 0.820465 0.705402 NA 0.804 NA 7.8760684 872 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 873 4 185634144 185634144 T C exonic MLF1IP NA nonsynonymous SNV MLF1IP:NM_024629:exon7:c.A642G:p.I214M exonic ENSG00000151725 NA nonsynonymous SNV ENSG00000151725:ENST00000281453:exon7:c.A642G:p.I214M,ENSG00000151725:ENST00000510146:exon7:c.A642G:p.I214M,ENSG00000151725:ENST00000541971:exon7:c.A642G:p.I214M NA NA 4q35.1 NA NA NA NA rs4616798 0.14 0.14 0.131 0.144569 0.1481 0.001 0.1354 0.295 0.092 0.14 NA 0.15 0.29 0.1468 0.29 0.13 T 0.002 B 0.004 B 0.842 N 1.000 P -0.92 N 1.97 T -0.938 T 0.000 T 0.042 -2.945 0.001 0.371 -0.189 -3.075 8.266 -2.945452 NA 0.13 0.163564 0.269982 NA 0.21 NA 7.8748694 873 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$AHRARNT_02 NA Name=3 NA rs8299 0.35 0.35 0.349 0.323682 0.3907 0.2014 0.3948 0.3812 0.2526 0.41 0.19 0.43 0.39 0.3507 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.53559 2.53559 NA 0.384419 0.368588 ID=COSM1388592;OCCURENCE=2(large_intestine) 0.326 NA 7.874181 873 22 31741067 31741067 G A exonic PATZ1 NA synonymous SNV PATZ1:NM_014323:exon1:c.C522T:p.L174L,PATZ1:NM_032050:exon1:c.C522T:p.L174L,PATZ1:NM_032051:exon1:c.C522T:p.L174L,PATZ1:NM_032052:exon1:c.C522T:p.L174L exonic ENSG00000100105 NA synonymous SNV ENSG00000100105:ENST00000215919:exon1:c.C522T:p.L174L,ENSG00000100105:ENST00000266269:exon1:c.C522T:p.L174L,ENSG00000100105:ENST00000351933:exon1:c.C522T:p.L174L,ENSG00000100105:ENST00000405309:exon1:c.C522T:p.L174L Score=751;Name=lod=1508 NA 22q12.2 Score=806;Name=V$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 873 9 133769169 133769169 G A exonic QRFP NA synonymous SNV QRFP:NM_198180:exon1:c.C57T:p.F19F exonic ENSG00000188710 NA synonymous SNV ENSG00000188710:ENST00000343079:exon1:c.C57T:p.F19F Score=336;Name=lod=31 NA 9q34.12 NA Name=Sin3Ak-20,Rad21,c-Myc,CTCF_(SC-5916),CTCF_(C-20),CTCF,USF-1,Pol2 Name=35 NA rs3847193 0.31 0.31 0.32 0.356629 0.2475 0.0714 0.2939 0.7436 0.2843 0.24 0.06 0.3 0.72 0.2836 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.247289 NA NA 0.261512 0.653654 NA 0.341 NA 7.8740546 873 3 57528503 57528503 A G exonic DNAH12 NA nonsynonymous SNV DNAH12:NM_178504:exon2:c.T95C:p.V32A,DNAH12:NM_198564:exon2:c.T95C:p.V32A exonic ENSG00000174844 NA nonsynonymous SNV ENSG00000174844:ENST00000311202:exon2:c.T95C:p.V32A,ENSG00000174844:ENST00000351747:exon2:c.T95C:p.V32A,ENSG00000174844:ENST00000389536:exon2:c.T95C:p.V32A,ENSG00000174844:ENST00000495027:exon2:c.T95C:p.V32A NA NA 3p14.3 NA NA NA NA rs9311651 0.21 0.21 0.201 0.216454 0.1461 0.003 0.1715 0.5477 0.093 0.14 0.0017 0.2 0.55 0.1623 0.55 0.73 T 0.0 B 0.002 B 0.107 N 1.000 P 1.87 L 3.76 T -0.911 T 0.000 T 0.087 -0.629 1.215 -2.94 -0.116 0.065 3.962 -0.628672 NA 0 0.151395 0.491148 NA 0.239 NA 7.8735384 873 11 428385 428385 A G exonic ANO9 NA nonsynonymous SNV ANO9:NM_001012302:exon14:c.T1195C:p.C399R exonic ENSG00000185101 NA nonsynonymous SNV ENSG00000185101:ENST00000332826:exon14:c.T1195C:p.C399R NA NA 11p15.5 NA NA NA NA rs10794323 0.9 0.9 0.917 0.921725 0.832 0.996 0.7464 0.9894 0.9703 0.83 1 0.74 0.99 0.8355 1 0.68 T 0.0 B 0.002 B 0.002 N 1.000 P -0.46 N 0.11 T -0.982 T 0.000 T 0.061 -0.608 1.29 -8.87 -2.020 -2.497 2.251 -0.607879 NA 0.36 0.792308 0.959773 ID=COSM1561410;OCCURENCE=1(large_intestine) 0.928 NA 7.8735254 873 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 873 4 1729556 1729556 G A exonic TACC3 NA nonsynonymous SNV TACC3:NM_006342:exon4:c.G427A:p.E143K exonic ENSG00000013810 NA nonsynonymous SNV ENSG00000013810:ENST00000313288:exon4:c.G427A:p.E143K,ENSG00000013810:ENST00000458173:exon4:c.G427A:p.E143K,ENSG00000013810:ENST00000493975:exon4:c.G427A:p.E143K NA NA 4p16.3 NA NA NA NA rs34205238 0.07 0.07 0.068 0.0642971 0.1561 0.001 0.0937 0.0121 0.0849 0.16 0.0017 0.1 0.01 0.1231 0.18 0.57 T 0.017 B 0.005 B 0.204 N 1.000 P 1.1 L 3.01 T -1.074 T 0.000 T 0.254 1.213 9.923 -3.31 -0.627 -0.129 5.146 1.21266 NA 0.42 0.181438 0.047435 NA 0.022 NA 7.8726954 873 11 55111584 55111584 A T exonic OR4A16 NA nonsynonymous SNV OR4A16:NM_001005274:exon1:c.A908T:p.K303M exonic ENSG00000181961 NA nonsynonymous SNV ENSG00000181961:ENST00000314721:exon1:c.A908T:p.K303M NA NA 11q11 Score=901;Name=V$NKX3A_01 NA NA NA rs10896659 0.44 0.44 0.421 0.41254 0.494 0.5387 0.5504 0.1853 0.408 0.51 0.54 0.57 0.14 0.4829 0.57 0.09 T 0.082 B 0.04 B . . 1.000 P 1.665 L 1.07 T -0.952 T 0.000 T 0.12 1.242 10.04 1.79 0.320 1.722 6.283 1.242232 1.242232 0.14 0.485681 0.231031 NA 0.333 NA 7.8707524 873 11 55111238 55111238 C A exonic OR4A16 NA nonsynonymous SNV OR4A16:NM_001005274:exon1:c.C562A:p.L188I exonic ENSG00000181961 NA nonsynonymous SNV ENSG00000181961:ENST00000314721:exon1:c.C562A:p.L188I Score=284;Name=lod=19 NA 11q11 NA NA NA NA rs11229158 0.44 0.44 0.422 0.414537 0.494 0.5387 0.5548 0.1853 0.4151 0.51 0.54 0.57 0.14 0.4821 0.57 0.08 T 0.0 B 0.0 B . . 1.000 P -0.635 N 8.7 T -0.995 T 0.000 T 0.1 -0.407 2.096 -0.125 -0.174 -1.795 3.420 -0.407234 NA 0.08 0.486615 0.231259 NA 0.333 NA 7.8706184 873 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=c-Myc,eGFP-JunD,TBP,CCNT2,c-Fos,eGFP-FOS,ZNF263,Pol2,HDAC2_(SC-6296),E2F6_(H-50),MafK_(ab50322),GTF2B,c-Jun,eGFP-JunB,ELF1_(SC-631),p300_(F-4),NF-E2 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 873 15 44120559 44120559 T G exonic WDR76 NA nonsynonymous SNV WDR76:NM_001167941:exon2:c.T265G:p.S89A,WDR76:NM_024908:exon2:c.T457G:p.S153A exonic ENSG00000092470 NA nonsynonymous SNV ENSG00000092470:ENST00000263795:exon2:c.T457G:p.S153A,ENSG00000092470:ENST00000381246:exon2:c.T265G:p.S89A,ENSG00000092470:ENST00000452115:exon2:c.T265G:p.S89A NA NA 15q15.3 NA NA Name=52 NA rs678084 0.85 0.85 0.818 0.830671 0.8131 1 0.8963 0.7073 0.7945 0.8 1 0.88 0.71 0.8332 1 0.32 T 0.0 B 0.0 B 0.062 N 1.000 P 0.345 N 0.97 T -1.011 T 0.000 T 0.082 1.565 11.19 2.54 0.235 1.393 3.283 1.564843 1.564843 0.04 0.81759 0.740218 NA 0.819 NA 7.8694434 873 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 873 13 52548140 52548140 A C exonic ATP7B NA nonsynonymous SNV ATP7B:NM_000053:exon2:c.T1216G:p.S406A,ATP7B:NM_001005918:exon2:c.T1216G:p.S406A,ATP7B:NM_001243182:exon3:c.T883G:p.S295A exonic ENSG00000123191 NA nonsynonymous SNV ENSG00000123191:ENST00000542656:exon1:c.T1120G:p.S374A,ENSG00000123191:ENST00000242839:exon2:c.T1216G:p.S406A,ENSG00000123191:ENST00000344297:exon2:c.T1216G:p.S406A,ENSG00000123191:ENST00000400370:exon2:c.T1216G:p.S406A,ENSG00000123191:ENST00000418097:exon2:c.T1216G:p.S406A,ENSG00000123191:ENST00000448424:exon2:c.T1216G:p.S406A,ENSG00000123191:ENST00000400366:exon3:c.T883G:p.S295A NA NA 13q14.3 NA NA NA NA rs1801243 0.43 0.43 0.411 0.376198 0.5229 0.5367 0.3934 0.1392 0.3681 0.51 0.53 0.43 0.16 0.4388 0.53 0.78 T 0.113 B 0.078 B 0.666 N 1.000 P 0.895 L -2.09 D -0.999 T 0.000 T 0.054 2.623 14.73 -0.027 0.055 -0.669 4.421 2.62322 2.62322 0.1 0.502295 0.185567 NA 0.268 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Wilson's_disease|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000029350.1|RCV000078038.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009|. 7.8693384 873 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 873 19 55527081 55527081 C T exonic GP6 NA nonsynonymous SNV GP6:NM_001256017:exon6:c.G691A:p.A231T,GP6:NM_001083899:exon7:c.G745A:p.A249T,GP6:NM_016363:exon7:c.G745A:p.A249T exonic ENSG00000088053 NA nonsynonymous SNV ENSG00000088053:ENST00000333884:exon6:c.G691A:p.A231T,ENSG00000088053:ENST00000310373:exon7:c.G745A:p.A249T,ENSG00000088053:ENST00000417454:exon7:c.G745A:p.A249T NA NA 19q13.42 NA NA NA NA rs2304167 0.76 0.76 0.74 0.713458 0.8459 0.8105 0.8228 0.4856 0.7076 0.84 0.82 0.84 0.52 0.7895 0.84 1 T 0.414 B 0.05 B . . 1.000 P 0.895 L 7.04 T -0.891 T 0.000 T 0.03 0.273 5.479 -6.29 -1.765 -2.923 4.484 0.273365 NA 0.34 0.830223 0.523726 NA 0.696 NA 7.8677104 873 20 61488785 61488785 T C exonic TCFL5 NA synonymous SNV TCFL5:NM_006602:exon4:c.A1200G:p.Q400Q exonic ENSG00000101190 NA synonymous SNV ENSG00000101190:ENST00000217162:exon4:c.A1056G:p.Q352Q,ENSG00000101190:ENST00000335351:exon4:c.A1200G:p.Q400Q Score=451;Name=lod=91 NA 20q13.33 NA Name=eGFP-JunB Name=12 NA rs2294996 0.23 0.23 0.228 0.227436 0.2763 0.1597 0.196 0.27 0.2117 0.28 0.15 0.2 0.26 0.2461 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.290496 1.290496 NA 0.276628 0.282342 NA 0.362 NA 7.8676386 873 18 77805949 77805949 A C exonic RBFA NA nonsynonymous SNV RBFA:NM_024805:exon7:c.A826C:p.K276Q exonic ENSG00000101546 NA nonsynonymous SNV ENSG00000101546:ENST00000306735:exon7:c.A826C:p.K276Q NA NA 18q23 NA NA NA NA rs3744873 0.23 0.23 0.216 0.204073 0.339 0.1696 0.1801 0.1936 0.1319 0.34 0.15 0.21 0.17 0.2737 0.35 0.06 T 0.718 P 0.296 B 0.480 N 1.000 P 1.735 L 1.82 T -0.977 T 0.000 T 0.037 1.916 12.37 2.03 0.198 0.697 5.515 1.9164 1.9164 NA 0.353721 0.247844 NA 0.275 NA 7.8669124 873 11 85436394 85436394 T C exonic SYTL2 NA nonsynonymous SNV SYTL2:NM_206927:exon1:c.A1106G:p.D369G,SYTL2:NM_206928:exon1:c.A1106G:p.D369G exonic ENSG00000137501 NA nonsynonymous SNV ENSG00000137501:ENST00000354566:exon1:c.A1106G:p.D369G,ENSG00000137501:ENST00000359152:exon1:c.A2678G:p.D893G,ENSG00000137501:ENST00000389959:exon1:c.A1106G:p.D369G,ENSG00000137501:ENST00000525423:exon1:c.A1106G:p.D369G NA NA 11q14.1 NA NA NA NA rs556669 0.68 0.68 0.688 0.666534 0.6551 0.6012 0.5706 0.8812 0.5235 0.66 0.57 0.62 0.87 0.6547 0.87 . . 0.617 P 0.242 B 0.889 N 1.000 P 0.895 L 1.51 T -1.013 T 0.000 T 0.099 1.877 12.24 3.87 1.109 0.662 7.073 1.877483 1.877483 0.1 0.657013 0.823877 NA 0.522 NA 7.8665204 873 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 873 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 874 12 55368245 55368245 G A exonic TESPA1 NA synonymous SNV TESPA1:NM_001098815:exon2:c.C102T:p.A34A,TESPA1:NM_001136030:exon2:c.C102T:p.A34A exonic ENSG00000135426 NA synonymous SNV ENSG00000135426:ENST00000316577:exon2:c.C102T:p.A34A,ENSG00000135426:ENST00000449076:exon2:c.C102T:p.A34A,ENSG00000135426:ENST00000533607:exon3:c.C102T:p.A34A,ENSG00000135426:ENST00000524668:exon4:c.C102T:p.A34A NA NA 12q13.2 Score=771;Name=V$HEN1_02 Name=CTCF_(SC-5916),CTCF Name=2 NA rs4758993 0.37 0.37 0.392 0.410942 0.2336 0.7044 0.2262 0.2451 0.6462 0.21 0.73 0.23 0.32 0.3698 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 -0.242307 NA NA 0.199012 0.241671 NA 0.268 NA 7.8642546 874 1 247752367 247752367 A G exonic OR2G2 NA nonsynonymous SNV OR2G2:NM_001001915:exon1:c.A706G:p.R236G exonic ENSG00000177489 NA nonsynonymous SNV ENSG00000177489:ENST00000320065:exon1:c.A706G:p.R236G NA NA 1q44 NA NA NA NA rs869111 0.42 0.42 0.413 0.388778 0.5159 0.4444 0.3444 0.3116 0.3364 0.51 0.44 0.4 0.29 0.4545 0.51 1 T 0.0 B 0.0 B 0.002 N 1.000 P -2.96 N 9.24 T -1.023 T 0.000 T 0.035 -2.052 0.006 4.29 1.023 0.583 10.187 -2.05158 NA 1 0.498837 0.312528 NA 0.377 NA 7.8640964 874 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$NRSF_01 NA NA NA rs2287499 0.34 0.34 0.396 0.406749 0.1421 0.2996 0.2421 0.8865 0.2577 0.14 0.26 0.2 0.84 0.2115 0.84 0.65 T 0.0 B 0.0 B 0.769 N 1.000 P -0.805 N 0.85 T -1.002 T 0.000 T 0.037 -0.772 0.753 1.08 -0.094 0.308 5.099 -0.77212 NA 0.29 0.116047 0.741035 NA 0.348 NA 7.8636864 874 19 4910889 4910889 G T exonic UHRF1 NA unknown UNKNOWN ncRNA_exonic ENSG00000034063 NA NA NA Score=626;Name=lod=465 NA 19p13.3 NA Name=Pol2-4H8 Name=116 NA rs2261988 0.3 0.3 0.346 0.319888 0.3022 0.1161 0.2723 0.4818 0.363 0.31 0.12 0.28 0.5 0.3318 0.5 0.19 T . . . . . . 1.000 P . . . . -0.914 T 0.000 T 0.04 1.651 11.48 -1.37 -0.372 0.359 6.743 1.650818 1.650818 0 0.336201 0.464639 NA 0.42 NA 7.8631323 874 12 27867727 27867727 G A exonic MRPS35 NA nonsynonymous SNV MRPS35:NM_001190864:exon2:c.G127A:p.G43R,MRPS35:NM_021821:exon2:c.G127A:p.G43R exonic ENSG00000061794 NA nonsynonymous SNV ENSG00000061794:ENST00000081029:exon2:c.G127A:p.G43R,ENSG00000061794:ENST00000538315:exon2:c.G127A:p.G43R NA NA 12p11.22 NA NA NA NA rs1127787 0.13 0.13 0.112 0.119409 0.173 0.1944 0.1009 0.0068 0.1524 0.17 0.19 0.1 0.01 0.1385 0.19 0.76 T 0.0 B 0.0 B 0.052 N 1.000 P -1.975 N 1.0 T -1.010 T 0.000 T 0.27 -1.192 0.077 1.99 0.438 1.190 4.407 -1.191671 NA 0.63 0.159535 0.033591 NA 0.094 NA 7.8622984 874 19 4910924 4910924 C T exonic UHRF1 NA unknown UNKNOWN ncRNA_exonic ENSG00000034063 NA NA NA Score=626;Name=lod=465 NA 19p13.3 Score=696;Name=V$PPARG_02 Name=E2F6,Pol2-4H8 Name=116 NA rs2261986 0.3 0.3 0.348 0.31849 0.3022 0.1161 0.268 0.4788 0.363 0.31 0.12 0.28 0.5 0.3311 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.249181 1.249181 NA 0.337777 0.465416 NA 0.42 NA 7.8622563 874 1 55075452 55075452 G A exonic FAM151A NA nonsynonymous SNV FAM151A:NM_176782:exon8:c.C1247T:p.A416V exonic ENSG00000162391 NA nonsynonymous SNV ENSG00000162391:ENST00000302250:exon8:c.C1247T:p.A416V NA NA 1p32.3 NA NA NA NA rs1368883 0.33 0.33 0.294 0.302316 0.5388 0.1815 0.3588 0.1959 0.2873 0.53 0.16 0.41 0.17 0.4116 0.53 0.05 D 0.12 B 0.045 B 0.268 N 1.000 P 0.92 L 2.78 T -0.962 T 0.000 T 0.055 -0.531 1.583 2.26 0.682 0.284 7.210 -0.531093 NA 0.59 0.520814 0.248979 NA 0.297 NA 7.8621194 874 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=ELF1_(SC-631),HNF4A,HEY1,HNF4G_(SC-6558),GABP,Pol2-4H8,TAF1,NFKB,TCF12,FOXA1_(SC-101058),FOXA1_(C-20),Pol2,ZNF263,YY1,HNF4A_(H-171),TR4,TBP,SP1,YY1_(C-20),FOXA2_(SC-6554) 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 874 9 125377087 125377087 A G exonic OR1Q1 NA nonsynonymous SNV OR1Q1:NM_012364:exon1:c.A71G:p.Q24R exonic ENSG00000165202 NA nonsynonymous SNV ENSG00000165202:ENST00000297913:exon1:c.A71G:p.Q24R NA NA 9q33.2 NA NA NA NA rs972925 0.81 0.81 0.799 0.822684 0.8141 0.9444 0.8573 0.6256 0.9479 0.82 0.94 0.81 0.63 0.8394 0.94 0.03 D 0.002 B 0.007 B 0.007 N 1.000 P 1.84 L 6.33 T -0.981 T 0.000 T 0.045 1.363 10.48 2.94 0.144 2.624 9.546 1.36257 1.36257 0.06 0.819419 0.669768 NA 0.841 NA 7.8604144 874 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$EVI1_05 Name=c-Myc NA NA rs35011845 0.18 0.18 0.151 0.142173 0.2793 0.1726 0.1585 0.0106 0.136 0.29 0.18 0.16 0.02 0.2293 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.105281 NA NA 0.298721 0.050613 NA 0.159 NA 7.8593456 874 8 69699756 69699756 G A exonic C8orf34 NA nonsynonymous SNV C8orf34:NM_052958:exon12:c.G1534A:p.A512T exonic ENSG00000165084 NA nonsynonymous SNV ENSG00000165084:ENST00000325233:exon6:c.G508A:p.A170T,ENSG00000165084:ENST00000337103:exon11:c.G1201A:p.A401T,ENSG00000165084:ENST00000518698:exon12:c.G1534A:p.A512T,ENSG00000165084:ENST00000539993:exon12:c.G1276A:p.A426T Score=550;Name=lod=230 NA 8q13.2 NA NA NA NA rs16935065 0.16 0.16 0.165 0.168331 0.1521 0.124 0.0965 0.2784 0.1329 0.17 0.13 0.09 0.25 0.1662 0.25 . . 0.0 B 0.002 B 0.425 N 0.000 P 0.55 N 0.65 T -1.012 T 0.000 T 0.046 3.368 17.35 -0.339 0.006 0.396 5.091 3.368334 3.368334 0.1 0.155698 0.236149 NA 0.116 NA 7.8593354 874 19 55526359 55526359 A T exonic GP6 NA nonsynonymous SNV GP6:NM_001256017:exon7:c.T896A:p.L299Q,GP6:NM_016363:exon8:c.T950A:p.L317Q exonic ENSG00000088053 NA nonsynonymous SNV ENSG00000088053:ENST00000333884:exon7:c.T896A:p.L299Q,ENSG00000088053:ENST00000417454:exon8:c.T950A:p.L317Q NA NA 19q13.42 NA Name=GABP,ELF1_(SC-631),HA-E2F1,Pol2 Name=20 NA rs1654413 0.77 0.77 0.736 0.72484 0.8429 0.8135 0.8256 0.5265 0.7086 0.84 0.82 0.85 0.55 0.7998 0.85 0.4 T 0.0 B 0.0 B . . 1.000 P . . 7.09 T -1.025 T 0.000 T . -0.545 1.529 -0.947 -1.326 -0.867 0.910 -0.544785 NA 1 0.831391 0.558977 ID=COSM1396467;OCCURENCE=1(large_intestine) 0.71 NA 7.8592424 874 20 20033242 20033242 A T exonic CRNKL1 NA synonymous SNV CRNKL1:NM_016652:exon2:c.T228A:p.V76V exonic ENSG00000101343 NA stopgain ENSG00000101343:ENST00000496549:exon2:c.T98A:p.L33X NA NA 20p11.23 Score=880;Name=V$SPZ1_01 Name=HA-E2F1,Pol2,FOSL2,CTCF,GABP,KAP1,ELF1_(SC-631),ETS1,c-Myc,SP1,Max,SREBP1,PAX5-C20,Mxi1_(bHLH),Sin3Ak-20,c-Fos,PU.1,PAX5-N19,TR4,CTCFL_(SC-98982) 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 874 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 874 11 126163612 126163612 T G UTR3 TIRAP NM_001039661:c.*30T>G NA NA ncRNA_UTR3 ENSG00000150455 NA NA NA NA NA 11q24.2 NA NA NA NA rs8177376 0.14 0.14 0.128 0.11881 0.2227 0.0397 0.134 0.0681 0.1513 0.24 0.04 0.14 0.1 0.1787 0.24 0 D . . . . . . 0.001 P . . . . -1.070 T 0.000 T . 1.105 9.507 4.51 2.016 0.928 10.387 1.104776 NA 0 0.239995 0.086552 NA 0.225 NA 7.858605 874 18 21736933 21736933 T G exonic CABYR NA nonsynonymous SNV CABYR:NM_153768:exon3:c.T1414G:p.S472A,CABYR:NM_012189:exon4:c.T1468G:p.S490A exonic ENSG00000154040 NA nonsynonymous SNV ENSG00000154040:ENST00000399481:exon2:c.T1174G:p.S392A,ENSG00000154040:ENST00000486759:exon3:c.T1414G:p.S472A,ENSG00000154040:ENST00000463087:exon4:c.T1468G:p.S490A Score=397;Name=lod=55 NA 18q11.2 NA NA NA NA rs1049683 0.82 0.82 0.841 0.853235 0.8101 0.8571 0.8285 0.8707 0.8875 0.8 0.8 0.85 0.86 0.8301 0.89 . . 0.0 B 0.0 B 0.487 N 1.000 P -0.895 N 2.09 T -1.028 T 0.000 T 0.156 0.849 8.433 4.46 0.831 1.333 6.598 0.849089 NA 0.74 0.834808 0.863865 NA 0.783 NA 7.8583254 874 5 150945483 150945483 C T exonic FAT2 NA nonsynonymous SNV FAT2:NM_001447:exon1:c.G3010A:p.G1004S exonic ENSG00000086570 NA nonsynonymous SNV ENSG00000086570:ENST00000261800:exon1:c.G3010A:p.G1004S Score=505;Name=lod=150 NA 5q33.1 NA NA NA NA rs3734055 0.43 0.43 0.391 0.402556 0.4901 0.3571 0.4524 0.3767 0.3589 0.49 0.35 0.44 0.41 0.4622 0.52 0.91 T 0.001 B 0.007 B 0.010 N 1.000 P 1.21 L 0.76 T -0.911 T 0.000 T 0.031 1.062 9.338 3.19 0.402 0.364 4.932 1.062294 NA 0.36 0.522791 0.388788 NA 0.42 NA 7.8582424 874 12 52282873 52282873 A T exonic ANKRD33 NA nonsynonymous SNV ANKRD33:NM_001130015:exon3:c.A14T:p.Y5F,ANKRD33:NM_182608:exon3:c.A419T:p.Y140F exonic ENSG00000167612 NA nonsynonymous SNV ENSG00000167612:ENST00000301190:exon3:c.A419T:p.Y140F,ENSG00000167612:ENST00000340970:exon3:c.A14T:p.Y5F NA NA 12q13.13 NA NA NA NA rs697636 0.32 0.32 0.29 0.323882 0.3062 0.4216 0.4135 0.1241 0.4479 0.32 0.45 0.36 0.13 0.3442 0.45 0.51 T 0.99 D 0.829 P 0.287 N 1.000 P 0.92 L -0.07 T -0.973 T 0.000 T 0.192 0.441 6.397 1.46 0.181 -0.226 6.750 0.441362 NA 0.05 0.325581 0.143895 NA 0.326 NA 7.8573524 874 3 187088926 187088926 G A exonic RTP4 NA nonsynonymous SNV RTP4:NM_022147:exon2:c.G506A:p.C169Y exonic ENSG00000136514 NA nonsynonymous SNV ENSG00000136514:ENST00000259030:exon2:c.G506A:p.C169Y NA NA 3q27.3 NA NA NA NA rs1533594 0.81 0.81 0.815 0.801717 0.8191 0.9613 0.8674 0.6051 0.8384 0.82 0.95 0.84 0.63 0.8339 0.95 1 T 0.0 B 0.0 B 0.000 N 1.000 P 0.205 N 2.3 T -0.956 T 0.000 T 0.015 -2.088 0.006 -8.16 -2.888 -1.113 0.759 -2.087876 NA 1 0.824186 0.678847 NA 0.761 NA 7.8561474 874 8 11706581 11706581 T G exonic CTSB NA synonymous SNV CTSB:NM_001908:exon5:c.A420C:p.T140T,CTSB:NM_147781:exon6:c.A420C:p.T140T,CTSB:NM_147782:exon6:c.A420C:p.T140T,CTSB:NM_147783:exon6:c.A420C:p.T140T,CTSB:NM_147780:exon7:c.A420C:p.T140T exonic ENSG00000164733 NA synonymous SNV ENSG00000164733:ENST00000353047:exon5:c.A420C:p.T140T,ENSG00000164733:ENST00000434271:exon5:c.A420C:p.T140T,ENSG00000164733:ENST00000526195:exon5:c.A420C:p.T140T,ENSG00000164733:ENST00000527243:exon5:c.A420C:p.T140T,ENSG00000164733:ENST00000530296:exon5:c.A420C:p.T140T,ENSG00000164733:ENST00000530640:exon5:c.A420C:p.T140T,ENSG00000164733:ENST00000533572:exon5:c.A420C:p.T140T,ENSG00000164733:ENST00000534149:exon5:c.A420C:p.T140T,ENSG00000164733:ENST00000534636:exon5:c.A420C:p.T140T,ENSG00000164733:ENST00000345125:exon6:c.A420C:p.T140T,ENSG00000164733:ENST00000453527:exon6:c.A420C:p.T140T,ENSG00000164733:ENST00000531089:exon6:c.A420C:p.T140T,ENSG00000164733:ENST00000533455:exon6:c.A420C:p.T140T,ENSG00000164733:ENST00000534510:exon6:c.A420C:p.T140T Score=493;Name=lod=135 NA 8p23.1 Score=748;Name=V$TCF11MAFG_01 Name=Pol2,HMGN3 Name=57 NA rs13332 0.61 0.61 0.643 0.569888 0.6163 0.5119 0.5389 0.6051 0.5562 0.62 0.49 0.59 0.73 0.5716 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 0.904982 NA NA 0.62314 0.702451 ID=COSM329287;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.333 NA 7.8556266 874 4 5966801 5966801 T C intergenic MIR378D1,JAKMIP1 dist=41746;dist=61125 NA NA exonic ENSG00000181215 NA nonsynonymous SNV ENSG00000181215:ENST00000324058:exon6:c.A529G:p.I177V,ENSG00000181215:ENST00000531445:exon6:c.A1951G:p.I651V NA NA 4p16.2 NA NA NA NA rs6839295 0.28 0.28 0.265 0.276158 0.3499 0.1121 0.3876 0.3033 0.2536 0.35 0.11 0.36 0.3 0.3044 0.36 0.68 T 0.0 B 0.0 B 0.064 N 1.000 P -0.29 N 2.1 T -0.969 T 0.000 T 0.046 -1.608 0.013 -5.83 -2.194 -2.095 0.602 -1.608024 NA 1 0.323488 0.333409 NA 0.283 NA 7.8555454 875 8 133931748 133931748 T C exonic TG NA synonymous SNV TG:NM_003235:exon21:c.T4506C:p.A1502A exonic ENSG00000042832 NA synonymous SNV ENSG00000042832:ENST00000220616:exon21:c.T4506C:p.A1502A,ENSG00000042832:ENST00000377869:exon21:c.T4506C:p.A1502A NA NA 8q24.22 NA NA Name=22 NA rs853304 0.47 0.47 0.429 0.473842 0.6074 0.3542 0.6052 0.351 0.5327 0.61 0.34 0.59 0.33 0.5915 0.61 . . . . . . . . 0.000 P . . . . -0.968 T 0.000 T . -0.931 0.377 -5.82 -1.170 -0.618 7.427 -0.930702 NA NA 0.612907 0.397413 ID=COSM150549;OCCURENCE=1(stomach),1(large_intestine) 0.514 NA 7.8548596 875 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 875 19 1056492 1056492 G C exonic ABCA7 NA nonsynonymous SNV ABCA7:NM_019112:exon33:c.G4580C:p.G1527A exonic ENSG00000064687 NA nonsynonymous SNV ENSG00000064687:ENST00000435683:exon27:c.G4166C:p.G1389A,ENSG00000064687:ENST00000433129:exon32:c.G4580C:p.G1527A,ENSG00000064687:ENST00000263094:exon33:c.G4580C:p.G1527A Score=532;Name=lod=194 Name=Alzheimer's disease (late onset) 19p13.3 NA NA NA NA rs3752246 0.82 0.82 0.807 0.825479 0.8101 0.6478 0.8674 0.9894 0.773 0.82 0.67 0.85 0.98 0.8405 0.98 0.79 T 0.0 B 0.0 B . . 1.000 P -1.61 N -2.17 D -0.989 T 0.000 T 0.037 -1.097 0.146 1.57 -0.001 -0.107 4.448 -1.096956 NA 0.39 0.828914 0.956423 NA 0.812 NA 7.8538194 875 X 107433688 107433688 A G exonic COL4A6 NA nonsynonymous SNV COL4A6:NM_001847:exon20:c.T1363C:p.S455P,COL4A6:NM_033641:exon20:c.T1360C:p.S454P exonic ENSG00000197565 NA nonsynonymous SNV ENSG00000197565:ENST00000334504:exon20:c.T1360C:p.S454P,ENSG00000197565:ENST00000372216:exon20:c.T1363C:p.S455P,ENSG00000197565:ENST00000394872:exon20:c.T1363C:p.S455P,ENSG00000197565:ENST00000538570:exon20:c.T1360C:p.S454P,ENSG00000197565:ENST00000545689:exon20:c.T1360C:p.S454P Score=265;Name=lod=16 NA Xq22.3 NA NA NA NA rs1042065 0.59 0.59 0.60811 NA NA NA NA NA NA 0.77 0.37 0.51 0.62 0.6851 0.79 1 T 0.0 B 0.0 B 0.031 N 0.000 P -2.065 N -1.98 D -0.958 T 0.000 T 0.078 0.449 6.436 0.71 -0.378 0.213 3.877 0.448559 NA 1 0.794887 0.650847 ID=COSM150805;OCCURENCE=1(stomach) 0.435 NA 7.8533464 875 6 129807714 129807714 G A exonic LAMA2 NA synonymous SNV LAMA2:NM_001079823:exon55:c.G7833A:p.P2611P,LAMA2:NM_000426:exon56:c.G7845A:p.P2615P exonic ENSG00000196569 NA synonymous SNV ENSG00000196569:ENST00000421865:exon56:c.G7845A:p.P2615P Score=487;Name=lod=127 NA 6q22.33 NA NA Name=7 NA rs2229850 0.38 0.38 0.389 0.403754 0.2565 0.3631 0.3646 0.5877 0.3763 0.27 0.41 0.35 0.56 0.308 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997218 NA NA 0.248837 0.524512 NA 0.464 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078801.2;CLNDSDB=.;CLNDSDBID=. 7.8533296 875 8 12957475 12957475 C T exonic DLC1 NA nonsynonymous SNV DLC1:NM_001164271:exon5:c.G838A:p.V280M,DLC1:NM_006094:exon5:c.G1060A:p.V354M,DLC1:NM_182643:exon9:c.G2371A:p.V791M exonic ENSG00000164741 NA nonsynonymous SNV ENSG00000164741:ENST00000358919:exon5:c.G1060A:p.V354M,ENSG00000164741:ENST00000512044:exon5:c.G1162A:p.V388M,ENSG00000164741:ENST00000520226:exon5:c.G838A:p.V280M,ENSG00000164741:ENST00000276297:exon9:c.G2371A:p.V791M NA NA 8p22 NA NA NA NA rs532841 0.47 0.47 0.465 0.496605 0.495 0.3363 0.3847 0.6089 0.591 0.49 0.37 0.43 0.61 0.4935 0.61 0.18 T 0.0 B 0.001 B 0.604 N 1.000 P -0.55 N 3.64 T -0.963 T 0.000 T 0.139 0.274 5.482 -6.1 -1.397 -0.575 11.136 0.273981 NA 0.17 0.492558 0.58897 ID=COSM150456;OCCURENCE=1(stomach) 0.543 NA 7.8522754 875 6 18215303 18215303 T C exonic KDM1B NA synonymous SNV KDM1B:NM_153042:exon16:c.T1479C:p.D493D exonic ENSG00000165097 NA synonymous SNV ENSG00000165097:ENST00000546309:exon2:c.T48C:p.D16D,ENSG00000165097:ENST00000297792:exon16:c.T1479C:p.D493D,ENSG00000165097:ENST00000397244:exon16:c.T1482C:p.D494D,ENSG00000165097:ENST00000388870:exon20:c.T2178C:p.D726D NA NA 6p22.3 Score=944;Name=V$TCF11_01 NA Name=7 NA rs214585 0.96 0.96 0.958 0.974042 0.9165 1 0.9582 0.9977 0.9857 0.92 1 0.95 1 0.9567 1 . . . . . . . . 0.000 P . . . . -1.088 T 0.010 T . -0.023 3.896 -12.0 -4.791 -1.086 3.798 -0.022983 NA NA 0.941395 0.98502 NA 0.971 NA 7.8520716 875 19 44470189 44470189 T A exonic ZNF221 NA nonsynonymous SNV ZNF221:NM_013359:exon6:c.T535A:p.F179I exonic ENSG00000159905 NA nonsynonymous SNV ENSG00000159905:ENST00000587682:exon5:c.T535A:p.F179I,ENSG00000159905:ENST00000251269:exon6:c.T535A:p.F179I,ENSG00000159905:ENST00000592350:exon6:c.T535A:p.F179I NA NA 19q13.31 NA Name=SETDB1 NA NA rs454301 0.95 0.95 0.945 0.94369 1 1 0.9769 0.8041 0.9928 1 1 0.97 0.8 0.9827 1 0.04 D 0.664 P 0.116 B . . 1.000 P 0.69 N 1.06 T -0.989 T 0.000 T 0.124 1.786 11.93 1.55 0.235 2.680 6.521 1.786405 1.786405 0.06 0.998721 0.822515 NA 0.935 NA 7.8519124 875 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$MAX_01 Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194) NA NA rs73406609 0.27 0.27 0.259 0.236621 0.2763 0.128 0.2911 0.348 0.1186 0.29 0.15 0.28 0.37 0.2571 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.140367 NA NA 0.282036 0.324369 NA 0.246 NA 7.8512306 875 16 81157353 81157353 G A exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN Score=520;Name=lod=173 NA 16q23.2 Score=814;Name=V$ER_Q6 Name=TAL1_(SC-12984) NA NA rs16954698 0.06 0.06 0.055 0.0662939 0.0497 0.0486 0.1225 0.0431 0.093 0.05 0.07 0.1 0.05 0.0573 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 1.199161 NA NA 0.041835 0.029039 NA 0.036 NA 7.851165 875 10 46999178 46999178 A C exonic GPRIN2 NA nonsynonymous SNV GPRIN2:NM_014696:exon3:c.A298C:p.T100P exonic ENSG00000204175 NA nonsynonymous SNV ENSG00000204175:ENST00000374314:exon1:c.A298C:p.T100P,ENSG00000204175:ENST00000374317:exon3:c.A298C:p.T100P NA NA 10q11.22 NA NA NA NA rs7090312 NA NA 0.434 NA NA NA NA NA NA NA NA NA NA 0.4838 0.41 0.14 T 0.001 B 0.004 B 0.388 N 1.000 N 2.015 M 3.86 T -0.956 T 0.011 T 0.475 2.482 14.26 -1.01 0.152 0.003 1.126 2.481989 2.481989 0.13 NA NA ID=COSM427579;OCCURENCE=1(breast),1(large_intestine) 0.391 NA 7.8495334 875 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 875 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$EVI1_04 NA NA NA rs674303 0.36 0.36 0.373 0.389776 0.2634 0.1776 0.2608 0.8502 0.2076 0.25 0.14 0.27 0.83 0.2851 0.83 . . . . . . . . 0.000 P . . . . -1.042 T 0.000 T . 1.209 9.91 1.59 0.090 0.201 2.159 1.209279 NA NA 0.272613 0.728316 NA 0.449 NA 7.8455536 875 5 70751818 70751818 T G exonic BDP1 NA nonsynonymous SNV BDP1:NM_018429:exon1:c.T114G:p.D38E exonic ENSG00000145734 NA nonsynonymous SNV ENSG00000145734:ENST00000358731:exon1:c.T114G:p.D38E NA NA 5q13.2 Score=753;Name=V$MYOGNF1_01 Name=Mxi1_(bHLH),Sin3Ak-20,c-Myc,YY1_(C-20),YY1,CTCF,Ini1,TAF1 Name=131 NA rs3748043 0.78 0.78 0.78 0.778155 0.831 0.8909 0.8516 0.556 0.8558 0.83 0.91 0.81 0.55 0.8247 0.91 1 T 0.0 B 0.0 B 0.247 N 0.000 P -1.01 N 2.19 T -0.989 T 0.000 T 0.046 -0.273 2.691 0.309 -0.383 -0.466 0.429 -0.27323 NA 1 0.83224 0.626639 NA 0.717 NA 7.8453934 875 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 876 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 876 16 81242194 81242194 T C exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon4:c.A662G:p.E221G exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000337114:exon4:c.A662G:p.E221G,ENSG00000269323:ENST00000599697:exon4:c.A662G:p.E221G Score=459;Name=lod=98 NA 16q23.2 NA NA NA NA rs6564838 0.78 0.78 0.769 0.732228 0.8469 0.8839 0.745 0.5749 0.6616 0.85 0.87 0.8 0.57 0.7986 0.87 1 T 0.0 B 0.0 B 0.000 N 0.000 P . . 2.53 T -0.975 T 0.000 T 0.231 -0.362 2.293 4.31 0.824 4.255 11.984 -0.36204 NA 0.18 0.843402 0.627968 NA 0.674 NA 7.8444314 876 20 33565480 33565480 C T exonic MYH7B NA synonymous SNV MYH7B:NM_020884:exon4:c.C51T:p.A17A exonic ENSG00000078814 NA synonymous SNV ENSG00000078814:ENST00000262873:exon2:c.C51T:p.A17A Score=500;Name=lod=144 NA 20q11.22 Score=755;Name=V$NRSF_01 Name=MafK_(SC-477),TCF4,MafF_(M8194),USF-1,MafK_(ab50322) NA NA rs6060137 0.24 0.24 0.223 0.267572 0.2396 0.2173 0.1527 0.3434 0.3272 0.24 0.2 0.18 0.35 0.3132 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.003172 NA NA 0.269537 0.31544 NA 0.312 NA 7.8443296 876 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,TAF7_(SQ-8),Pol2-4H8 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 876 12 27850113 27850113 A T exonic REP15 NA nonsynonymous SNV REP15:NM_001029874:exon1:c.A618T:p.E206D exonic ENSG00000174236 NA nonsynonymous SNV ENSG00000174236:ENST00000310791:exon1:c.A618T:p.E206D NA NA 12p11.22 NA NA Name=4 NA rs12819160 0.1 0.1 0.094 0.0900559 0.175 0.0506 0.0994 0.0068 0.1493 0.18 0.06 0.1 0.01 0.1391 0.18 0.61 T 0.0 B 0.003 B 0.211 N 1.000 P 0.895 L 1.44 T -1.007 T 0.000 T 0.026 0.16 4.863 1.3 0.387 -0.146 1.172 0.160403 NA 0.48 0.177442 0.038357 NA 0.094 NA 7.8417914 876 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 876 9 133948049 133948049 A G exonic LAMC3 NA nonsynonymous SNV LAMC3:NM_006059:exon19:c.A3244G:p.S1082G exonic ENSG00000050555 NA nonsynonymous SNV ENSG00000050555:ENST00000361069:exon19:c.A3244G:p.S1082G NA NA 9q34.12 Score=911;Name=V$TAL1ALPHAE47_01 NA NA NA rs2275140 0.7 0.7 0.736 0.699081 0.8579 0.6419 0.6614 0.5628 0.8057 0.84 0.65 0.7 0.57 0.7931 0.84 0.52 T 0.0 B 0.001 B 0.512 N 1.000 P 0 N 1.64 T -1.027 T 0.000 T 0.011 -0.546 1.526 2.24 0.032 0.723 7.909 -0.545735 NA 0.74 0.841279 0.623695 ID=COSM455482;OCCURENCE=1(breast) 0.812 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117467.2;CLNDSDB=.;CLNDSDBID=. 7.8410544 876 20 32295541 32295541 C T exonic PXMP4 NA nonsynonymous SNV PXMP4:NM_007238:exon4:c.G610A:p.V204I exonic ENSG00000101417 NA nonsynonymous SNV ENSG00000101417:ENST00000409299:exon4:c.G610A:p.V204I Score=544;Name=lod=217 NA 20q11.22 NA NA NA NA rs910397 0.63 0.63 0.645 0.625599 0.4811 0.7837 0.5447 0.6838 0.59 0.5 0.79 0.53 0.71 0.5319 0.79 1 T 0.0 B 0.001 B 0.003 N 0.000 P -0.755 N 1.01 T -0.991 T 0.000 T 0.032 -0.969 0.308 -2.5 -0.405 0.196 6.694 -0.969442 NA NA 0.479651 0.633227 NA 0.645 NA 7.8406824 876 19 41211056 41211056 T C exonic ADCK4 NA nonsynonymous SNV ADCK4:NM_001142555:exon6:c.A398G:p.H133R,ADCK4:NM_024876:exon7:c.A521G:p.H174R exonic ENSG00000123815 NA nonsynonymous SNV ENSG00000123815:ENST00000599643:exon5:c.A280G:p.T94A,ENSG00000123815:ENST00000243583:exon6:c.A398G:p.H133R,ENSG00000123815:ENST00000450541:exon6:c.A398G:p.H133R,ENSG00000123815:ENST00000595254:exon6:c.A194G:p.H65R,ENSG00000123815:ENST00000600080:exon6:c.A187G:p.T63A,ENSG00000123815:ENST00000324464:exon7:c.A521G:p.H174R,ENSG00000123815:ENST00000601967:exon7:c.A521G:p.H174R Score=638;Name=lod=521 NA 19q13.2 NA NA NA NA rs3865452 0.46 0.46 0.438 0.477436 0.4901 0.4782 0.6441 0.3381 0.5337 0.49 0.47 0.6 0.3 0.5085 0.6 0.55 T 0.0 B 0.0 B 0.000 N 1.000 P -1.525 N -0.32 T -0.918 T 0.000 T 0.043 -0.138 3.325 2.89 0.544 0.735 8.279 -0.137935 NA 0.23 0.49407 0.371312 ID=COSM148632,COSM148631;OCCURENCE=1(breast),1(stomach) 0.507 NA 7.8406634 876 12 40085906 40085906 A T exonic C12orf40 NA nonsynonymous SNV C12orf40:NM_001031748:exon11:c.A1403T:p.K468M exonic ENSG00000180116 NA nonsynonymous SNV ENSG00000180116:ENST00000324616:exon11:c.A1403T:p.K468M,ENSG00000180116:ENST00000405531:exon11:c.A1403T:p.K468M Score=251;Name=lod=14 NA 12q12 NA NA NA NA rs73270414 0.13 0.13 0.141 0.129792 0.162 0.1766 0.098 0.0658 0.1575 0.15 0.17 0.11 0.06 0.1665 0.17 0.18 T 0.018 B 0.031 B 0.846 N 0.567 P 0.695 N 0.72 T -1.054 T 0.000 T 0.121 0.031 4.175 1.66 0.475 0.308 5.995 0.03104 NA 0.14 0.16465 0.078381 ID=COSM1579797;OCCURENCE=1(central_nervous_system) 0.08 NA 7.8401834 876 1 18023690 18023690 A G exonic ARHGEF10L NA nonsynonymous SNV ARHGEF10L:NM_001011722:exon27:c.A3538G:p.I1180V,ARHGEF10L:NM_018125:exon29:c.A3655G:p.I1219V exonic ENSG00000074964 NA nonsynonymous SNV ENSG00000074964:ENST00000167825:exon18:c.A2764G:p.I922V,ENSG00000074964:ENST00000375408:exon20:c.A2974G:p.I992V,ENSG00000074964:ENST00000375415:exon27:c.A3538G:p.I1180V,ENSG00000074964:ENST00000452522:exon28:c.A3538G:p.I1180V,ENSG00000074964:ENST00000361221:exon29:c.A3655G:p.I1219V Score=632;Name=lod=493 NA 1p36.13 NA NA Name=5 NA rs2270976 0.81 0.81 0.772 0.822684 0.8211 0.8988 0.8746 0.6694 0.9162 0.81 0.9 0.87 0.68 0.8355 0.9 1 T 0.0 B 0.001 B 0.018 N 0.000 P -0.525 N 2.61 T -0.952 T 0.000 T 0.02 -0.209 2.988 2.98 0.461 0.608 7.746 -0.208717 NA 1 0.836685 0.71409 NA 0.565 NA 7.8400484 876 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 876 17 76498692 76498692 C T exonic DNAH17 NA nonsynonymous SNV DNAH17:NM_173628:exon33:c.G5171A:p.R1724K exonic ENSG00000187775 NA nonsynonymous SNV ENSG00000187775:ENST00000389840:exon33:c.G5138A:p.R1713K,ENSG00000187775:ENST00000585328:exon33:c.G5162A:p.R1721K Score=485;Name=lod=125 NA 17q25.3 NA NA NA NA rs930571 0.91 0.91 0.914 0.930911 0.8171 0.9702 0.8991 0.9924 0.9468 0.84 0.97 0.86 0.99 0.8652 0.99 1 T . . . . . . 0.999 P . . 2.17 T -0.929 T 0.000 T 0.009 -1.146 0.105 3.27 0.363 2.503 9.282 -1.145888 NA 1 0.811508 0.970837 NA 0.928 NA 7.8395254 876 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 876 5 70806958 70806958 G A exonic BDP1 NA nonsynonymous SNV BDP1:NM_018429:exon17:c.G4039A:p.V1347M exonic ENSG00000145734 NA nonsynonymous SNV ENSG00000145734:ENST00000358731:exon17:c.G4039A:p.V1347M NA NA 5q13.2 NA NA NA NA rs6886336 0.82 0.82 0.818 0.821086 0.829 0.8839 0.8689 0.7179 0.8538 0.83 0.9 0.83 0.72 0.8343 0.9 0.36 T 0.001 B 0.001 B 0.004 N 1.000 P 0.97 L 2.96 T -1.004 T 0.000 T 0.008 -0.462 1.863 -6.46 -2.582 -1.809 8.131 -0.462246 NA 0.36 0.831425 0.740701 NA 0.79 NA 7.8386084 876 17 76491127 76491127 T C exonic DNAH17 NA nonsynonymous SNV DNAH17:NM_173628:exon39:c.A5956G:p.M1986V exonic ENSG00000187775 NA nonsynonymous SNV ENSG00000187775:ENST00000389840:exon39:c.A5914G:p.M1972V,ENSG00000187775:ENST00000585328:exon39:c.A5941G:p.M1981V Score=599;Name=lod=361 NA 17q25.3 NA NA NA NA rs691652 0.79 0.79 0.898 0.93131 0.8171 0.9712 0.8963 0.9932 0.9489 0.72 0.87 0.78 0.82 0.8638 0.97 1 T . . . . . . 0.815 P 0.515 N 3.25 T -0.929 T 0.000 T 0.113 0.176 4.947 3.76 0.802 5.722 11.505 0.175923 NA 1 0.813959 0.970646 NA NA NA 7.8384744 876 9 100194406 100194406 T C exonic TDRD7 NA nonsynonymous SNV TDRD7:NM_014290:exon4:c.T449C:p.V150A exonic ENSG00000196116 NA nonsynonymous SNV ENSG00000196116:ENST00000422139:exon3:c.T227C:p.V76A,ENSG00000196116:ENST00000355295:exon4:c.T449C:p.V150A NA NA 9q22.33 NA Name=USF-1 Name=8 NA rs2045732 0.57 0.57 0.555 0.544728 0.5129 0.5784 0.598 0.6127 0.4131 0.51 0.57 0.59 0.63 0.5072 0.63 0.59 T 0.01 B 0.002 B 0.131 N 1.000 P 0 N 2.7 T -0.955 T 0.000 T 0.004 -1.237 0.056 0.998 0.092 -0.001 5.770 -1.236835 NA 0.3 0.475349 0.60463 ID=COSM150645;OCCURENCE=1(stomach) 0.529 NA 7.8378844 876 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 876 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 876 11 114442103 114442103 A G exonic NXPE4 NA nonsynonymous SNV NXPE4:NM_001077639:exon6:c.T1192C:p.Y398H,NXPE4:NM_017678:exon6:c.T340C:p.Y114H exonic ENSG00000137634 NA nonsynonymous SNV ENSG00000137634:ENST00000375478:exon6:c.T1192C:p.Y398H,ENSG00000137634:ENST00000424261:exon6:c.T340C:p.Y114H NA NA 11q23.2 NA NA NA NA rs550897 0.62 0.62 0.615 0.653954 0.4682 0.6746 0.5605 0.9054 0.5501 0.45 0.67 0.53 0.89 0.5404 0.89 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.415 N 2.82 T -0.977 T 0.000 T 0.093 -0.669 1.074 4.54 0.804 4.178 11.299 -0.668989 NA 1 0.487891 0.837264 NA 0.833 NA 7.8368424 876 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 876 2 228111435 228111435 T C exonic COL4A3 NA nonsynonymous SNV COL4A3:NM_000091:exon7:c.T422C:p.L141P exonic ENSG00000169031 NA nonsynonymous SNV ENSG00000169031:ENST00000396578:exon7:c.T422C:p.L141P Score=389;Name=lod=51 NA 2q36.3 NA NA NA NA rs10178458 0.81 0.81 0.775 0.796725 0.839 0.8978 0.8775 0.6021 0.8548 0.84 0.9 0.86 0.61 0.8302 0.9 1 T 0.042 B 0.011 B 0.142 N 0.380 P -2.72 N -3.4 D -0.919 T 0.000 T 0.129 -2.434 0.003 3.62 0.697 0.396 13.158 -2.434477 NA 0.31 0.8277 0.6434 NA 0.703 NA 7.8364334 876 18 70417396 70417396 C T exonic NETO1 NA nonsynonymous SNV NETO1:NM_001201465:exon9:c.G1442A:p.S481N,NETO1:NM_138966:exon9:c.G1442A:p.S481N exonic ENSG00000166342 NA nonsynonymous SNV ENSG00000166342:ENST00000299430:exon9:c.G1439A:p.S480N,ENSG00000166342:ENST00000327305:exon9:c.G1442A:p.S481N,ENSG00000166342:ENST00000583169:exon9:c.G1442A:p.S481N Score=544;Name=lod=216 NA 18q22.3 NA NA NA NA rs922999 0.99 0.99 0.988 0.988419 1 1 0.9885 0.9622 1 1 1 0.99 0.96 0.9973 1 0.41 T 0.991 D 0.632 P 0.000 N 0.000 P 1.795 L 1.66 T -0.919 T 0.000 T 0.024 2.914 15.71 -0.592 -0.110 1.710 11.740 2.913649 2.913649 0.26 0.999884 0.969133 NA 0.971 NA 7.8361494 876 16 31004169 31004169 T C exonic STX1B NA synonymous SNV STX1B:NM_052874:exon10:c.A840G:p.S280S exonic ENSG00000099365 NA synonymous SNV ENSG00000099365:ENST00000569638:exon7:c.A588G:p.S196S,ENSG00000099365:ENST00000215095:exon10:c.A840G:p.S280S Score=644;Name=lod=554 NA 16p11.2 Score=939;Name=V$TCF11_01 Name=GATA-1 NA NA rs17855121 0.17 0.17 0.134 0.152556 0.2893 0.002 0.2939 0.118 0.1135 0.29 0.0017 0.26 0.11 0.2413 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.969271 NA NA 0.300814 0.144515 NA 0.072 NA 7.8352526 877 14 75574087 75574087 C T exonic NEK9 NA nonsynonymous SNV NEK9:NM_033116:exon11:c.G1286A:p.R429H exonic ENSG00000119638 NA nonsynonymous SNV ENSG00000119638:ENST00000238616:exon11:c.G1286A:p.R429H NA NA 14q24.3 Score=889;Name=V$MYOD_01 NA NA NA rs10146482 0.55 0.55 0.532 0.523562 0.502 0.8373 0.621 0.2905 0.4683 0.49 0.81 0.56 0.33 0.5113 0.81 0.27 T 0.002 B 0.002 B 0.011 N 1.000 P 0.895 L -1.92 D -0.928 T 0.000 T 0.026 0.765 8.047 -1.48 -0.411 0.457 12.492 0.765105 NA 0.28 0.485698 0.322061 NA 0.507 NA 7.8343354 877 1 144871755 144871755 A T exonic PDE4DIP NA nonsynonymous SNV PDE4DIP:NM_001198834:exon32:c.T5207A:p.V1736E,PDE4DIP:NM_014644:exon32:c.T5207A:p.V1736E exonic ENSG00000178104 NA nonsynonymous SNV ENSG00000178104:ENST00000369354:exon32:c.T5207A:p.V1736E,ENSG00000178104:ENST00000369356:exon32:c.T5207A:p.V1736E,ENSG00000178104:ENST00000530740:exon34:c.T5462A:p.V1821E,ENSG00000178104:ENST00000369359:exon35:c.T5615A:p.V1872E NA NA 1q21.1 NA Name=PU.1 NA NA rs1778159 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5 0.47 0.32 T 0.361 B 0.069 B . . 1.000 N 1.59 L 4.81 T -0.931 T 0.002 T 0.271 2.221 13.38 0.597 0.127 0.238 7.646 2.221371 2.221371 0.14 NA NA NA 0.449 NA 7.8333334 877 19 36243813 36243813 G A splicing LIN37 NM_019104:exon5:c.192-2G>A NA NA ncRNA_exonic ENSG00000267439 NA NA NA Score=570;Name=lod=277 NA 19q13.12 Score=899;Name=V$TAL1ALPHAE47_01 NA NA NA rs231243 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . . . 0.000 P . . . . . . . . . 2.242 13.45 4.31 0.809 5.413 7.915 2.242077 2.242077 NA NA NA NA 1 NA 7.8333333 877 12 53200999 53200999 T A exonic KRT4 NA nonsynonymous SNV KRT4:NM_002272:exon9:c.A1417T:p.S473C exonic ENSG00000170477 NA nonsynonymous SNV ENSG00000170477:ENST00000293774:exon9:c.A1639T:p.S547C,ENSG00000170477:ENST00000551956:exon9:c.A1417T:p.S473C,ENSG00000170477:ENST00000458244:exon10:c.A1357T:p.S453C NA NA 12q13.13 NA NA NA NA rs367751022 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008282 0.0001 0.62 T 0.947 P 0.319 B 0.086 N 1.000 N 0.895 L -0.75 T -0.341 T 0.499 T 0.242 1.305 10.28 0.656 0.019 -0.031 7.876 1.305363 1.305363 0.03 0.000118 0 NA NA NA 7.8332071 877 19 10116508 10116508 C T exonic COL5A3 NA nonsynonymous SNV COL5A3:NM_015719:exon3:c.G401A:p.R134H exonic ENSG00000080573 NA nonsynonymous SNV ENSG00000080573:ENST00000264828:exon3:c.G401A:p.R134H NA NA 19p13.2 NA NA NA NA rs2303098 0.14 0.14 0.188 0.163738 0.1551 0.1062 0.0908 0.171 0.274 0.15 0.09 0.12 0.21 0.1744 0.21 0.17 T 0.0 B 0.001 B 0.370 U 1.000 P 0.345 N 4.43 T -0.915 T 0.000 T 0.085 -0.468 1.837 0.641 0.053 1.375 4.010 -0.468341 NA 0.22 0.173001 0.159268 NA 0.181 NA 7.8308324 877 22 43455531 43455531 C T exonic TTLL1 NA synonymous SNV TTLL1:NM_012263:exon8:c.G750A:p.E250E exonic ENSG00000100271 NA synonymous SNV ENSG00000100271:ENST00000266254:exon8:c.G750A:p.E250E,ENSG00000100271:ENST00000331018:exon8:c.G750A:p.E250E Score=568;Name=lod=271 NA 22q13.2 NA NA NA NA rs1132079 0.16 0.16 0.149 0.148163 0.2793 0.001 0.2363 0.0772 0.1984 0.28 0.01 0.27 0.09 0.2607 0.3 . . . . . . . . 0.000 P . . . . -0.952 T 0.000 T . 0.595 7.209 -3.19 -0.301 0.074 1.354 0.59502 NA NA 0.296628 0.107808 NA 0.167 NA 7.8300386 877 7 158672405 158672405 C G exonic WDR60 NA nonsynonymous SNV WDR60:NM_018051:exon5:c.C604G:p.L202V exonic ENSG00000126870 NA nonsynonymous SNV ENSG00000126870:ENST00000407559:exon5:c.C604G:p.L202V NA NA 7q36.3 NA NA NA NA rs73527702 0.01 0.01 0.004 0.00958466 NA NA 0.0043 0.034 NA NA NA 0.0028 0.02 0.003 0.026 0.48 T 0.603 P 0.232 B 0.752 N 1.000 N 0.695 N 1.86 T -1.025 T 0.014 T 0.059 0.477 6.586 1.65 0.506 0.468 6.754 0.476508 NA 0.21 0.000361 0.02614 NA 0.022 NA 7.8299724 877 2 128321770 128321770 G A exonic MYO7B NA nonsynonymous SNV MYO7B:NM_001080527:exon3:c.G61A:p.G21S exonic ENSG00000169994 NA nonsynonymous SNV ENSG00000169994:ENST00000409816:exon2:c.G61A:p.G21S,ENSG00000169994:ENST00000389524:exon3:c.G61A:p.G21S,ENSG00000169994:ENST00000428314:exon3:c.G61A:p.G21S NA NA 2q14.3 NA Name=EBF1_(C-8),USF-1 NA NA rs2404991 0.45 0.45 0.388 0.395367 0.4801 0.5526 0.5807 0.1392 0.3609 0.51 0.55 0.57 0.17 0.5234 0.57 0.85 T 0.027 B 0.007 B 0.424 N 1.000 P 0 N -2.19 D -1.030 T 0.000 T 0.01 0.553 6.991 -0.284 0.001 0.446 10.527 0.552909 NA 0.25 0.500839 0.191337 NA 0.275 NA 7.8289944 877 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 877 1 38289383 38289383 T C exonic MTF1 NA synonymous SNV MTF1:NM_005955:exon8:c.A1170G:p.T390T exonic ENSG00000188786 NA synonymous SNV ENSG00000188786:ENST00000373036:exon8:c.A1170G:p.T390T Score=448;Name=lod=88 NA 1p34.3 NA Name=STAT3 Name=32 NA rs12751325 0.24 0.24 0.216 0.211462 0.2843 0.2639 0.2104 0.0628 0.2843 0.3 0.29 0.22 0.09 0.2655 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.723563 1.723563 NA 0.289767 0.10463 NA 0.152 NA 7.8270996 877 17 43176804 43176804 C T exonic NMT1 NA synonymous SNV NMT1:NM_021079:exon8:c.C916T:p.L306L exonic ENSG00000136448 NA synonymous SNV ENSG00000136448:ENST00000258960:exon8:c.C916T:p.L306L,ENSG00000136448:ENST00000592782:exon9:c.C916T:p.L306L Score=655;Name=lod=612 NA 17q21.31 Score=812;Name=V$PBX1_02 Name=IRF4_(M-17),CTCF_(SC-5916),USF-1,CTCF,ZNF263,GTF2F1_(RAP-74),SMC3_(ab9263),YY1_(C-20),Rad21,IRF1 NA NA rs2239923 0.22 0.22 0.206 0.224042 0.2992 0.2748 0.2017 0.059 0.3333 0.29 0.29 0.21 0.05 0.2516 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.232398 NA NA 0.289186 0.092147 NA 0.232 NA 7.8266806 877 1 63999868 63999868 T C exonic EFCAB7 NA nonsynonymous SNV EFCAB7:NM_032437:exon6:c.T785C:p.M262T exonic ENSG00000203965 NA nonsynonymous SNV ENSG00000203965:ENST00000371088:exon6:c.T785C:p.M262T NA NA 1p31.3 NA NA NA NA rs6657480 0.26 0.26 0.269 0.28754 0.1491 0.1925 0.196 0.5825 0.1943 0.15 0.19 0.2 0.54 0.2014 0.54 0.77 T 0.0 B 0.0 B 0.230 N 1.000 P -1.39 N 0.51 T -0.980 T 0.012 T 0.018 -2.49 0.003 2.32 0.346 0.268 4.47 -2.489623 NA 0.82 0.156279 0.477304 NA 0.232 NA 7.8265544 877 8 22262321 22262321 T C exonic SLC39A14 NA nonsynonymous SNV SLC39A14:NM_001128431:exon2:c.T98C:p.L33P,SLC39A14:NM_001135153:exon2:c.T98C:p.L33P,SLC39A14:NM_001135154:exon2:c.T98C:p.L33P,SLC39A14:NM_015359:exon2:c.T98C:p.L33P exonic ENSG00000104635 NA nonsynonymous SNV ENSG00000104635:ENST00000517552:exon1:c.T98C:p.L33P,ENSG00000104635:ENST00000240095:exon2:c.T98C:p.L33P,ENSG00000104635:ENST00000289952:exon2:c.T98C:p.L33P,ENSG00000104635:ENST00000359741:exon2:c.T98C:p.L33P,ENSG00000104635:ENST00000381237:exon2:c.T98C:p.L33P,ENSG00000104635:ENST00000519960:exon2:c.T98C:p.L33P,ENSG00000104635:ENST00000520644:exon2:c.T98C:p.L33P,ENSG00000104635:ENST00000520832:exon2:c.T98C:p.L33P,ENSG00000104635:ENST00000522881:exon2:c.T98C:p.L33P,ENSG00000104635:ENST00000524285:exon3:c.T98C:p.L33P NA NA 8p21.3 NA NA NA NA rs896378 0.62 0.62 0.58 0.628994 0.504 0.6974 0.5288 0.7617 0.5787 0.51 0.72 0.55 0.74 0.5313 0.74 0.37 T 0.0 B 0.0 B 0.079 N 1.000 P 0.345 N 0.87 T -0.942 T 0.000 T 0.352 1.183 9.809 -2.43 -0.359 -1.407 2.135 1.182733 NA 0.35 0.471628 0.711303 NA 0.601 NA 7.8264054 877 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 877 X 1531648 1531648 C T exonic ASMTL NA nonsynonymous SNV ASMTL:NM_001173474:exon11:c.G1574A:p.R525K,ASMTL:NM_001173473:exon12:c.G1448A:p.R483K,ASMTL:NM_004192:exon12:c.G1622A:p.R541K exonic ENSG00000169093 NA nonsynonymous SNV ENSG00000169093:ENST00000381333:exon11:c.G1574A:p.R525K,ENSG00000169093:ENST00000416733:exon11:c.G1394A:p.R465K,ENSG00000169093:ENST00000381317:exon12:c.G1622A:p.R541K,ENSG00000169093:ENST00000534940:exon12:c.G1448A:p.R483K NA NA Xp22.33 NA NA NA NA rs1127297 0.32 0.32 0.31797 NA NA NA NA NA NA 0.21 0.42 0.28 0.41 0.2788 0.42 1 T 0.124 B 0.024 B 0.063 U 1.000 N -0.225 N 1.75 T -0.924 T 0.000 T 0.118 0.084 4.451 0.299 0.518 1.192 4.805 0.083577 NA 1 0.22881 0.347128 NA 0.362 NA 7.8257234 877 2 208477852 208477852 G A exonic METTL21A NA nonsynonymous SNV METTL21A:NM_001127395:exon4:c.C575T:p.T192I,METTL21A:NM_145280:exon4:c.C575T:p.T192I exonic ENSG00000144401 NA nonsynonymous SNV ENSG00000144401:ENST00000426075:exon3:c.C575T:p.T192I,ENSG00000144401:ENST00000272839:exon4:c.C629T:p.T210I,ENSG00000144401:ENST00000406927:exon4:c.C575T:p.T192I,ENSG00000144401:ENST00000411432:exon4:c.C575T:p.T192I,ENSG00000144401:ENST00000442521:exon4:c.C575T:p.T192I,ENSG00000144401:ENST00000448007:exon4:c.C575T:p.T192I Score=309;Name=lod=24 NA 2q33.3 NA NA NA NA rs2551949 0.89 0.89 0.895 0.904153 0.831 0.998 0.879 0.8646 0.954 0.82 1 0.86 0.88 0.8598 1 0.13 T 0.047 B 0.02 B 0.260 N 0.000 P 1.445 L 2.36 T -0.995 T 0.000 T 0.12 1.108 9.518 2.88 0.678 3.042 11.452 1.107586 NA 0.17 0.81686 0.868361 NA 0.949 NA 7.8256734 878 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 878 6 99819379 99819379 T C exonic COQ3 NA nonsynonymous SNV COQ3:NM_017421:exon6:c.A814G:p.S272G exonic ENSG00000132423 NA nonsynonymous SNV ENSG00000132423:ENST00000369240:exon2:c.A130G:p.S44G,ENSG00000132423:ENST00000369242:exon5:c.A130G:p.S44G,ENSG00000132423:ENST00000254759:exon6:c.A814G:p.S272G Score=676;Name=lod=745 NA 6q16.2 NA NA NA NA rs6925344 0.81 0.81 0.783 0.836062 0.826 0.8641 0.9121 0.705 0.9407 0.83 0.82 0.89 0.71 0.848 0.89 0.9 T 0.0 B 0.0 B 0.000 N 1.000 P -2.52 N 2.61 T -0.950 T 0.004 T 0.017 0.087 4.472 4.36 0.712 2.050 11.905 0.087491 NA 1 0.835581 0.713799 NA 0.71 NA 7.8237524 878 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 878 10 98469693 98469693 C T exonic PIK3AP1 NA nonsynonymous SNV PIK3AP1:NM_152309:exon2:c.G61A:p.E21K exonic ENSG00000155629 NA nonsynonymous SNV ENSG00000155629:ENST00000339364:exon2:c.G61A:p.E21K NA NA 10q24.1 NA NA NA NA rs17112076 0.16 0.16 0.162 0.125399 0.1799 0.2292 0.1037 0.0159 0.1258 0.17 0.29 0.11 0.04 0.1584 0.29 0.21 T 0.0 B 0.001 B 0.875 N 1.000 P 1.495 L 2.03 T -0.940 T 0.000 T 0.09 0.708 7.774 -1.72 0.001 -1.428 5.778 0.708104 NA 0.38 0.171824 0.04502 ID=COSM428224;OCCURENCE=1(breast) 0.138 NA 7.8232094 878 4 79432455 79432455 A C exonic FRAS1 NA synonymous SNV FRAS1:NM_025074:exon64:c.A9808C:p.R3270R exonic ENSG00000138759 NA synonymous SNV ENSG00000138759:ENST00000264895:exon64:c.A9808C:p.R3270R Score=627;Name=lod=469 NA 4q21.21 NA NA NA NA rs3749488 0.37 0.37 0.39 0.404553 0.2674 0.4554 0.2925 0.4455 0.5174 0.28 0.48 0.27 0.45 0.3268 0.48 . . . . . . . . 0.000 P . . . . -0.881 T 0.000 T . 1.425 10.7 -0.309 0.387 1.791 15.335 1.425249 1.425249 NA 0.249291 0.390766 NA 0.319 NA 7.8231756 878 1 85039955 85039955 G A exonic CTBS NA synonymous SNV CTBS:NM_004388:exon1:c.C144T:p.L48L exonic ENSG00000117151 NA synonymous SNV ENSG00000117151:ENST00000370625:exon1:c.C144T:p.L48L,ENSG00000117151:ENST00000370630:exon1:c.C144T:p.L48L,ENSG00000117151:ENST00000465118:exon1:c.C144T:p.L48L Score=343;Name=lod=33 NA 1p22.3 NA Name=Pol2,HA-E2F1,TAF7_(SQ-8),E2F6,PAX5-C20,Pol2(b),TAF1,HMGN3,AP-2gamma,CCNT2,NANOG_(SC-33759),Pol2-4H8,HEY1,ETS1,E2F1 Name=148 NA rs2303307 0.24 0.24 0.236 0.274161 0.2475 0.2302 0.2464 0.2595 0.3865 0.25 0.21 0.25 0.27 0.3475 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.213352 NA NA 0.25 0.250346 ID=COSM1561051;OCCURENCE=1(large_intestine) 0.167 NA 7.8216666 878 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 878 8 11705677 11705677 C G intronic CTSB NA NA NA intronic ENSG00000164733 NA NA NA NA NA 8p23.1 NA Name=FOSL2,Pol2 Name=2 NA rs2294140 0.45 0.45 0.446 0.464457 0.3976 0.502 0.4164 0.5038 0.4755 0.4 0.49 0.4 0.51 0.4035 0.51 . . 0.002 B 0.002 B . . 1.000 P . . . . -0.921 T 0.000 T . -0.501 1.705 -6.61 -1.698 -0.408 4.241 -0.500614 NA 0.03 0.38 0.470041 NA 0.406 NA 7.8189 878 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 878 11 82644904 82644904 G A exonic C11orf82 NA nonsynonymous SNV C11orf82:NM_145018:exon6:c.G2524A:p.V842I exonic ENSG00000165490 NA nonsynonymous SNV ENSG00000165490:ENST00000329143:exon2:c.G1621A:p.V541I,ENSG00000165490:ENST00000533655:exon6:c.G2524A:p.V842I,ENSG00000165490:ENST00000430323:exon7:c.G2524A:p.V842I NA NA 11q14.1 NA NA NA NA rs7130899 0.53 0.53 0.517 0.553514 0.498 0.3442 0.6369 0.7678 0.4775 0.5 0.31 0.61 0.76 0.5169 0.76 . . 0.0 B 0.0 B 0.107 N 1.000 P -1.39 N 2.56 T -0.977 T 0.000 T 0.008 -0.343 2.376 -8.02 -1.988 -0.653 2.778 -0.34314 NA 1 0.501163 0.727417 NA 0.507 NA 7.8172704 878 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 878 1 158985673 158985673 G A exonic IFI16 NA nonsynonymous SNV IFI16:NM_001206567:exon3:c.G277A:p.A93T,IFI16:NM_005531:exon3:c.G277A:p.A93T exonic ENSG00000163565 NA nonsynonymous SNV ENSG00000163565:ENST00000448393:exon2:c.G277A:p.A93T,ENSG00000163565:ENST00000295809:exon3:c.G277A:p.A93T,ENSG00000163565:ENST00000340979:exon3:c.G277A:p.A93T,ENSG00000163565:ENST00000359709:exon3:c.G277A:p.A93T,ENSG00000163565:ENST00000368131:exon3:c.G277A:p.A93T,ENSG00000163565:ENST00000368132:exon3:c.G277A:p.A93T,ENSG00000163565:ENST00000430894:exon3:c.G289A:p.A97T,ENSG00000163565:ENST00000426592:exon4:c.G277A:p.A93T,ENSG00000163565:ENST00000447473:exon4:c.G277A:p.A93T NA NA 1q23.1 NA NA NA NA rs116270651 0.0041 0.0041 0.003 0.00239617 0.005 NA 0.0058 NA 0.0031 0.01 NA 0.01 NA 0.0054 0.01 1 T 0.73 P 0.263 B . . 1.000 N -0.75 N 3.69 T -1.023 T 0.004 T 0.149 -0.164 3.199 -0.242 -0.006 -0.902 2.325 -0.164151 NA 0.23 0.00686 0.001816 NA NA NA 7.8160734 878 17 649935 649935 G C exonic GEMIN4 NA nonsynonymous SNV GEMIN4:NM_015721:exon2:c.C1348G:p.Q450E exonic ENSG00000179409 NA nonsynonymous SNV ENSG00000179409:ENST00000576778:exon1:c.C1315G:p.Q439E,ENSG00000179409:ENST00000319004:exon2:c.C1348G:p.Q450E NA NA 17p13.3 NA NA NA NA rs2740348 0.88 0.88 0.897 0.893371 0.8439 0.8899 0.8242 0.9728 0.8896 0.84 0.89 0.81 0.96 0.8477 0.96 1 T 0.0 B 0.0 B 0.060 N 1.000 P -1.445 N 2.76 T -0.971 T 0.000 T 0.047 -2.123 0.005 6.08 1.603 2.121 10.115 -2.123239 NA 1 0.82593 0.955371 NA 0.812 NA 7.8158034 878 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 879 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 879 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=Pol2,TAF1 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 879 14 71109153 71109153 C G exonic TTC9 NA nonsynonymous SNV TTC9:NM_015351:exon1:c.C307G:p.P103A exonic ENSG00000133985 NA nonsynonymous SNV ENSG00000133985:ENST00000256367:exon1:c.C307G:p.P103A NA NA 14q24.2 NA NA Name=15 NA rs4902834 0.83 0.83 0.871 0.841653 0.8042 0.8442 0.8991 0.9047 0.7515 0.78 0.79 0.91 0.89 0.8611 0.91 0.35 T 0.001 B 0.0 B 0.104 N 1.000 P -0.205 N 2.2 T -1.007 T 0.000 T 0.048 -1.207 0.069 -7.15 -2.181 0.182 0.715 -1.206605 NA 0.92 0.85525 0.902292 ID=COSM433314;OCCURENCE=1(breast) 0.174 NA 7.8127834 879 13 113508839 113508839 G C exonic ATP11A NA synonymous SNV ATP11A:NM_015205:exon19:c.G2238C:p.L746L,ATP11A:NM_032189:exon19:c.G2238C:p.L746L exonic ENSG00000068650 NA synonymous SNV ENSG00000068650:ENST00000283558:exon19:c.G2238C:p.L746L,ENSG00000068650:ENST00000375630:exon19:c.G2238C:p.L746L,ENSG00000068650:ENST00000375645:exon19:c.G2238C:p.L746L,ENSG00000068650:ENST00000487903:exon19:c.G2238C:p.L746L Score=376;Name=lod=45 NA 13q34 NA NA NA NA rs9549573 0.71 0.71 0.709 0.696286 0.6044 0.6567 0.7262 0.9644 0.4479 0.6 0.62 0.71 0.96 0.6343 0.96 . . . . . . . . 0.000 P . . . . -1.039 T 0.000 T . -0.814 0.639 2.84 0.391 2.234 10.743 -0.81408 NA NA 0.615465 0.91644 NA 0.717 NA 7.8125016 879 1 234603386 234603386 G T exonic TARBP1 NA synonymous SNV TARBP1:NM_005646:exon4:c.C1110A:p.L370L exonic ENSG00000059588 NA synonymous SNV ENSG00000059588:ENST00000040877:exon4:c.C1110A:p.L370L Score=412;Name=lod=63 NA 1q42.2 NA Name=GATA3_(SC-268),FOXA1_(C-20) Name=5 NA rs270502 0.16 0.16 0.156 0.124601 0.3141 NA 0.1427 0.1044 0.0726 0.33 NA 0.16 0.11 0.2422 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.804839 NA NA 0.298721 0.142533 NA 0.087 NA 7.8116456 879 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 879 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 879 15 92647645 92647645 G C exonic SLCO3A1 NA nonsynonymous SNV SLCO3A1:NM_001145044:exon4:c.G882C:p.E294D,SLCO3A1:NM_013272:exon4:c.G882C:p.E294D exonic ENSG00000176463 NA nonsynonymous SNV ENSG00000176463:ENST00000318445:exon4:c.G882C:p.E294D,ENSG00000176463:ENST00000424469:exon4:c.G882C:p.E294D Score=618;Name=lod=432 NA 15q26.1 NA NA NA NA rs1517618 0.89 0.89 0.907 0.902556 0.827 0.9653 0.9193 0.9115 0.8916 0.81 0.95 0.91 0.93 0.8635 0.95 0.33 T 0.0 B 0.008 B 0.092 N 1.000 P 0.945 L -1.47 T -0.999 T 0.000 T 0.091 0.476 6.581 3.07 0.622 1.063 8.702 0.475553 NA 0.76 0.831782 0.888763 NA 0.906 NA 7.8110514 879 11 33079580 33079580 A G exonic TCP11L1 NA nonsynonymous SNV TCP11L1:NM_001145541:exon5:c.A533G:p.K178R,TCP11L1:NM_018393:exon5:c.A533G:p.K178R exonic ENSG00000176148 NA nonsynonymous SNV ENSG00000176148:ENST00000334274:exon5:c.A533G:p.K178R,ENSG00000176148:ENST00000432887:exon5:c.A533G:p.K178R,ENSG00000176148:ENST00000527661:exon5:c.A533G:p.K178R,ENSG00000176148:ENST00000531632:exon5:c.A533G:p.K178R NA NA 11p13 NA NA NA NA rs2273549 0.14 0.14 0.122 0.119209 0.1948 0.122 0.1297 0.0696 0.0982 0.19 0.12 0.16 0.09 0.1495 0.19 . . 0.003 B 0.015 B 0.014 N 1.000 P 0.28 N 2.69 T -0.929 T 0.000 T 0.068 -0.783 0.721 0.691 0.383 1.417 5.668 -0.783462 NA 0.76 0.178571 0.100363 NA 0.101 NA 7.8104624 879 4 129867280 129867280 T A exonic SCLT1 NA nonsynonymous SNV SCLT1:NM_144643:exon16:c.A1321T:p.S441C exonic ENSG00000151466 NA nonsynonymous SNV ENSG00000151466:ENST00000281142:exon16:c.A1321T:p.S441C Score=580;Name=lod=303 NA 4q28.2 NA NA NA NA rs10028124 0.74 0.74 0.725 0.760184 0.673 0.7044 0.7637 0.9599 0.635 0.66 0.68 0.75 0.95 0.6953 0.95 . . 0.973 D 0.724 P 0.273 N 0.000 P 1.245 L 1.51 T -1.020 T 0.000 T 0.08 2.868 15.55 1.5 0.594 0.010 6.192 2.867699 2.867699 0.08 0.654723 0.913942 NA 0.746 NA 7.8103104 879 3 56667682 56667682 G C exonic FAM208A NA nonsynonymous SNV FAM208A:NM_015224:exon11:c.C1826G:p.T609R,FAM208A:NM_001112736:exon18:c.C3137G:p.T1046R exonic ENSG00000163946 NA nonsynonymous SNV ENSG00000163946:ENST00000431842:exon11:c.C1826G:p.T609R,ENSG00000163946:ENST00000355628:exon17:c.C2954G:p.T985R,ENSG00000163946:ENST00000493960:exon18:c.C3137G:p.T1046R NA Name=Height 3p14.3 Score=899;Name=V$CEBP_01 NA NA NA rs9835332 0.72 0.72 0.726 0.784345 0.4592 0.9514 0.7147 0.9259 0.8047 0.44 0.94 0.67 0.91 0.6031 0.94 0.83 T 0.0 B 0.001 B 0.209 N 1.000 P -0.895 N 3.03 T -1.033 T 0.000 T 0.047 -2.009 0.007 0.788 -0.279 -0.360 7.797 -2.008918 NA 0.5 0.461279 0.845892 NA 0.681 NA 7.8097544 879 15 63988357 63988357 C G exonic HERC1 NA nonsynonymous SNV HERC1:NM_003922:exon27:c.G5087C:p.G1696A exonic ENSG00000103657 NA nonsynonymous SNV ENSG00000103657:ENST00000561400:exon8:c.G2039C:p.G680A,ENSG00000103657:ENST00000443617:exon27:c.G5087C:p.G1696A Score=556;Name=lod=243 NA 15q22.31 NA NA NA NA rs2255243 0.65 0.65 0.647 0.635982 0.8956 0.0982 0.647 0.8744 0.593 0.89 0.09 0.69 0.88 0.7497 0.89 1 T 0.0 B 0.0 B 0.129 N 1.000 P 0 N 1.98 T -0.957 T 0.000 T 0.062 -0.602 1.312 4.29 0.667 3.883 15.683 -0.601842 NA 1 0.879405 0.85525 ID=COSM147942;OCCURENCE=1(stomach) 0.638 NA 7.8086284 879 14 23236524 23236524 C T exonic OXA1L NA nonsynonymous SNV OXA1L:NM_005015:exon2:c.C311T:p.A104V exonic ENSG00000155463 NA nonsynonymous SNV ENSG00000155463:ENST00000285848:exon2:c.C311T:p.A104V,ENSG00000155463:ENST00000358043:exon2:c.C83T:p.A28V,ENSG00000155463:ENST00000412791:exon2:c.C131T:p.A44V,ENSG00000155463:ENST00000604262:exon2:c.C131T:p.A44V NA NA 14q11.2 NA Name=PU.1,Egr-1,GABP,Pol2-4H8,ELF1_(SC-631),Pol2 Name=148 NA rs8572 0.8 0.8 0.78 0.771765 0.8489 0.869 0.9121 0.553 0.7883 0.85 0.83 0.9 0.6 0.828 0.9 0.04 D 0.001 B 0.001 B 0.342 N 1.000 P . . 1.51 T -1.081 T 0.000 T 0.04 2.136 13.1 1.35 -0.041 -0.034 5.408 2.136213 2.136213 0.31 0.847907 0.617113 NA 0.819 NA 7.8085264 879 12 102064118 102064118 T C exonic MYBPC1 NA synonymous SNV MYBPC1:NM_001254722:exon20:c.T2391C:p.I797I,MYBPC1:NM_001254720:exon21:c.T2433C:p.I811I,MYBPC1:NM_001254721:exon21:c.T2412C:p.I804I,MYBPC1:NM_001254723:exon21:c.T2430C:p.I810I,MYBPC1:NM_001254719:exon22:c.T2469C:p.I823I,MYBPC1:NM_206821:exon22:c.T2469C:p.I823I,MYBPC1:NM_001254718:exon23:c.T2523C:p.I841I,MYBPC1:NM_206820:exon23:c.T2523C:p.I841I,MYBPC1:NM_002465:exon24:c.T2544C:p.I848I,MYBPC1:NM_206819:exon24:c.T2544C:p.I848I exonic ENSG00000196091 NA synonymous SNV ENSG00000196091:ENST00000547405:exon20:c.T2391C:p.I797I,ENSG00000196091:ENST00000392934:exon21:c.T2430C:p.I810I,ENSG00000196091:ENST00000536007:exon21:c.T2412C:p.I804I,ENSG00000196091:ENST00000541119:exon21:c.T2433C:p.I811I,ENSG00000196091:ENST00000547509:exon21:c.T2427C:p.I809I,ENSG00000196091:ENST00000545503:exon22:c.T2469C:p.I823I,ENSG00000196091:ENST00000553190:exon22:c.T2469C:p.I823I,ENSG00000196091:ENST00000360610:exon23:c.T2523C:p.I841I,ENSG00000196091:ENST00000441232:exon23:c.T2523C:p.I841I,ENSG00000196091:ENST00000452455:exon23:c.T2523C:p.I841I,ENSG00000196091:ENST00000550270:exon23:c.T2523C:p.I841I,ENSG00000196091:ENST00000361466:exon24:c.T2544C:p.I848I,ENSG00000196091:ENST00000361685:exon24:c.T2544C:p.I848I,ENSG00000196091:ENST00000549145:exon24:c.T2562C:p.I854I,ENSG00000196091:ENST00000551300:exon25:c.T2172C:p.I724I Score=500;Name=lod=144 NA 12q23.2 Score=850;Name=V$IRF7_01 Name=CTCF,CEBPB,SMC3_(ab9263),YY1_(C-20),Rad21 Name=125 NA rs7139095 0.97 0.97 0.971 0.964457 0.9523 0.997 0.9712 0.9448 0.9652 0.96 1 0.97 0.95 0.9542 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.949473 NA NA 0.95314 0.943713 NA 0.978 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117656.1;CLNDSDB=.;CLNDSDBID=. 7.8070266 879 17 72350362 72350362 G A exonic KIF19 NA synonymous SNV KIF19:NM_153209:exon18:c.G2370A:p.S790S exonic ENSG00000196169 NA synonymous SNV ENSG00000196169:ENST00000389916:exon18:c.G2370A:p.S790S NA NA 17q25.1 Score=819;Name=V$RFX1_02 Name=ZNF263,SMC3_(ab9263),CTCFL_(SC-98982),JunD,CCNT2,NANOG_(SC-33759),PAX5-C20,YY1_(C-20),Rad21,ATF3,CTCF_(C-20),Znf143_(16618-1-AP),GABP,CTCF_(SC-5916),Pol2-4H8,TCF12,TAF7_(SQ-8),CTCF Name=48 NA rs72852235 0.25 0.25 0.234 0.254992 0.2803 0.3452 0.3012 0.1051 0.3057 0.27 0.3 0.29 0.12 0.2971 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.328751 NA NA 0.282792 0.114905 ID=COSM437307;OCCURENCE=1(breast) 0.188 NA 7.8064746 879 2 169721377 169721377 G A exonic NOSTRIN NA nonsynonymous SNV NOSTRIN:NM_001171632:exon15:c.G1334A:p.G445E,NOSTRIN:NM_052946:exon15:c.G1184A:p.G395E,NOSTRIN:NM_001039724:exon16:c.G1418A:p.G473E,NOSTRIN:NM_001171631:exon21:c.G1589A:p.G530E exonic ENSG00000163072 NA nonsynonymous SNV ENSG00000163072:ENST00000397206:exon15:c.G1184A:p.G395E,ENSG00000163072:ENST00000397209:exon15:c.G1334A:p.G445E,ENSG00000163072:ENST00000421711:exon15:c.G1334A:p.G445E,ENSG00000163072:ENST00000445023:exon15:c.G1184A:p.G395E,ENSG00000163072:ENST00000317647:exon16:c.G1418A:p.G473E,ENSG00000163072:ENST00000444448:exon19:c.G1589A:p.G530E,ENSG00000163072:ENST00000458381:exon21:c.G1589A:p.G530E Score=534;Name=lod=198 NA 2q31.1 NA NA NA NA rs479661 0.89 0.89 0.898 0.907149 0.832 0.9395 0.8098 0.9629 0.9448 0.84 0.93 0.82 0.97 0.8639 0.97 0.77 T 0.0 B 0.001 B 0.021 N 0.000 P 0.255 N 1.64 T -0.965 T 0.000 T 0.152 0.255 5.378 4.96 0.834 2.153 8.843 0.255043 NA 1 0.831142 0.945099 NA 0.812 NA 7.8062914 879 19 40929363 40929363 T C exonic SERTAD1 NA nonsynonymous SNV SERTAD1:NM_013376:exon2:c.A91G:p.T31A exonic ENSG00000197019 NA nonsynonymous SNV ENSG00000197019:ENST00000357949:exon2:c.A91G:p.T31A NA NA 19q13.2 Score=762;Name=V$MYOGNF1_01 NA Name=3 NA rs268687 0.51 0.51 0.509 0.541933 0.503 0.2411 0.4914 0.8797 0.4714 0.49 0.23 0.55 0.84 0.5069 0.84 0.78 T 0.0 B 0.0 B 0.002 N 1.000 P 0 N 0.96 T -0.988 T 0.000 T 0.008 -1.732 0.011 1.5 0.173 0.243 3.704 -1.731682 NA 0.45 0.518324 0.826395 NA 0.471 NA 7.8051094 880 5 72348272 72348272 A G exonic FCHO2 NA nonsynonymous SNV FCHO2:NM_001146032:exon12:c.A1012G:p.M338V,FCHO2:NM_138782:exon13:c.A1111G:p.M371V exonic ENSG00000157107 NA nonsynonymous SNV ENSG00000157107:ENST00000512348:exon12:c.A1012G:p.M338V,ENSG00000157107:ENST00000341845:exon13:c.A1111G:p.M371V,ENSG00000157107:ENST00000430046:exon13:c.A1111G:p.M371V Score=552;Name=lod=234 NA 5q13.2 NA NA NA NA rs185435 0.22 0.22 0.229 0.260184 0.1332 0.1696 0.1686 0.4637 0.274 0.12 0.16 0.22 0.43 0.2482 0.43 0.24 T 0.017 B 0.007 B 0.121 N 0.000 P 1.04 L 2.33 T -0.906 T 0.000 T 0.08 0.692 7.694 -1.4 -0.486 0.401 6.281 0.691582 NA 0.27 0.147461 0.409903 NA 0.283 NA 7.8044724 880 12 13717508 13717508 G A exonic GRIN2B NA synonymous SNV GRIN2B:NM_000834:exon13:c.C2664T:p.T888T exonic ENSG00000150086 NA synonymous SNV ENSG00000150086:ENST00000279593:exon13:c.C2664T:p.T888T NA NA 12p13.1 NA Name=CTCF Name=2 NA rs1806201 0.31 0.31 0.265 0.303315 0.2783 0.5208 0.3213 0.0703 0.407 0.28 0.52 0.29 0.11 0.3102 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.63796 NA NA 0.27407 0.108034 ID=COSM430806;OCCURENCE=1(breast),1(large_intestine) 0.261 CLINSIG=untested|probable-non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=not|single;CLNACC=RCV000084728.1|RCV000117194.2;CLNDSDB=.|.;CLNDSDBID=.|. 7.8040966 880 21 43413651 43413651 T C exonic ZBTB21 NA nonsynonymous SNV ZBTB21:NM_020727:exon2:c.A554G:p.N185S,ZBTB21:NM_001098402:exon3:c.A554G:p.N185S,ZBTB21:NM_001098403:exon3:c.A554G:p.N185S exonic ENSG00000173276 NA nonsynonymous SNV ENSG00000173276:ENST00000398511:exon2:c.A554G:p.N185S,ENSG00000173276:ENST00000310826:exon3:c.A554G:p.N185S,ENSG00000173276:ENST00000398505:exon3:c.A554G:p.N185S,ENSG00000173276:ENST00000398499:exon4:c.A554G:p.N185S NA NA 21q22.3 NA NA NA NA rs871545 0.11 0.11 0.102 0.0994409 0.1938 0.0655 0.0764 0.0378 0.137 0.21 0.06 0.07 0.03 0.1466 0.21 1 T 0.0 B 0.002 B 0.399 N 1.000 P -0.715 N 3.52 T -0.941 T 0.000 T 0.001 -0.122 3.401 -2.96 -0.353 -0.417 8.312 -0.122323 NA 0.85 0.188953 0.061507 NA 0.13 NA 7.8039804 880 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 880 5 179193598 179193598 C T exonic MAML1 NA synonymous SNV MAML1:NM_014757:exon2:c.C1587T:p.S529S exonic ENSG00000161021 NA synonymous SNV ENSG00000161021:ENST00000292599:exon2:c.C1587T:p.S529S Score=548;Name=lod=224 NA 5q35.3 NA Name=Pol2,MafK_(ab50322),TAL1_(SC-12984),ZBTB7A_(SC-34508) Name=92 NA rs3797776 0.2 0.2 0.168 0.165935 0.3231 0.1488 0.2161 0.0257 0.1759 0.34 0.13 0.23 0.02 0.243 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.435074 NA NA 0.297209 0.071266 NA 0.123 NA 7.8033576 880 1 228033197 228033197 A G exonic PRSS38 NA nonsynonymous SNV PRSS38:NM_183062:exon4:c.A610G:p.M204V exonic ENSG00000185888 NA nonsynonymous SNV ENSG00000185888:ENST00000366757:exon4:c.A610G:p.M204V Score=278;Name=lod=18 NA 1q42.13 NA Name=ZNF263 NA NA rs9426581 0.77 0.77 0.781 0.797324 0.8439 0.6915 0.7637 0.7738 0.9141 0.85 0.69 0.77 0.76 0.8277 0.86 0.91 T 0.0 B 0.0 B 0.636 N 1.000 P -2.205 N 0.52 T -0.975 T 0.000 T 0.039 -0.479 1.792 3.16 0.709 0.030 6.540 -0.479333 NA 0.51 0.859302 0.795506 NA 0.696 NA 7.8024314 880 16 67691668 67691668 A G exonic ACD NA nonsynonymous SNV ACD:NM_001082486:exon11:c.T1553C:p.V518A,ACD:NM_001082487:exon11:c.T1505C:p.V502A,ACD:NM_022914:exon11:c.T1544C:p.V515A exonic ENSG00000102977 NA nonsynonymous SNV ENSG00000102977:ENST00000219251:exon11:c.T1544C:p.V515A,ENSG00000102977:ENST00000393919:exon11:c.T1553C:p.V518A Score=361;Name=lod=39 NA 16q22.1 Score=886;Name=V$AREB6_01 NA NA NA rs6979 0.52 0.52 0.541 0.571486 0.5268 0.1617 0.4784 0.9682 0.5695 0.52 0.14 0.51 0.97 0.5155 0.97 0.65 T 0.0 B 0.0 B 0.885 N 1.000 P -0.92 N 1.58 T -1.020 T 0.000 T 0.019 -0.153 3.251 1.6 -0.070 -0.130 7.139 -0.153252 NA 0.84 0.488953 0.884668 NA 0.638 NA 7.8020804 880 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 880 19 37210529 37210529 A G exonic ZNF567 NA synonymous SNV ZNF567:NM_152603:exon4:c.A810G:p.R270R exonic ENSG00000189042 NA synonymous SNV ENSG00000189042:ENST00000392163:exon3:c.A810G:p.R270R,ENSG00000189042:ENST00000585696:exon3:c.A810G:p.R270R,ENSG00000189042:ENST00000360729:exon4:c.A810G:p.R270R,ENSG00000189042:ENST00000588311:exon4:c.A810G:p.R270R,ENSG00000189042:ENST00000536254:exon6:c.A903G:p.R301R Score=464;Name=lod=103 NA 19q13.12 NA Name=SETDB1,ZNF274 Name=38 NA rs3108200 0.29 0.29 0.285 0.26857 0.2942 0.2113 0.2032 0.3654 0.2168 0.29 0.23 0.23 0.39 0.2752 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703721 NA NA 0.29686 0.343849 NA 0.333 NA 7.8004066 880 3 31725316 31725316 G A exonic OSBPL10 NA synonymous SNV OSBPL10:NM_001174060:exon7:c.C1344T:p.H448H,OSBPL10:NM_017784:exon8:c.C1536T:p.H512H exonic ENSG00000144645 NA synonymous SNV ENSG00000144645:ENST00000438237:exon7:c.C1344T:p.H448H,ENSG00000144645:ENST00000396556:exon8:c.C1536T:p.H512H NA NA 3p23 NA NA NA NA rs2278959 0.27 0.27 0.233 0.234625 0.3141 0.3234 0.2853 0.0983 0.2096 0.3 0.34 0.32 0.1 0.2708 0.34 . . . . . . . . 1.000 P . . . . -1.072 T 0.000 T . -1.644 0.013 -11.4 -3.447 -4.905 11.713 -1.643961 NA NA 0.281395 0.130731 NA 0.203 NA 7.8003716 880 12 21015760 21015760 G A exonic SLCO1B3 NA nonsynonymous SNV SLCO1B3:NM_019844:exon8:c.G699A:p.M233I exonic ENSG00000111700,ENSG00000257046 NA nonsynonymous SNV ENSG00000111700:ENST00000544370:exon2:c.G171A:p.M57I,ENSG00000257046:ENST00000540229:exon6:c.G699A:p.M233I,ENSG00000111700:ENST00000553473:exon6:c.G699A:p.M233I,ENSG00000111700:ENST00000261196:exon7:c.G699A:p.M233I,ENSG00000111700:ENST00000540853:exon7:c.G699A:p.M233I,ENSG00000111700:ENST00000381545:exon8:c.G699A:p.M233I Score=251;Name=lod=14 NA 12p12.2 NA NA NA NA rs7311358 0.71 0.71 0.682 0.702476 0.8648 0.6984 0.8372 0.3555 0.9131 0.85 0.72 0.86 0.38 0.8044 0.86 0.37 T 0.092 B 0.03 B 0.008 N 0.000 P -0.135 N 1.31 T -1.046 T 0.000 T 0.273 1.707 11.67 -2.0 -0.125 -1.540 4.723 1.706783 1.706783 0.13 0.863837 0.447571 NA 0.703 NA 7.8002964 880 12 21011480 21011480 T G exonic SLCO1B3 NA nonsynonymous SNV SLCO1B3:NM_019844:exon5:c.T334G:p.S112A exonic ENSG00000111700,ENSG00000205754,ENSG00000257046 NA nonsynonymous SNV ENSG00000257046:ENST00000381541:exon3:c.T334G:p.S112A,ENSG00000257046:ENST00000540229:exon3:c.T334G:p.S112A,ENSG00000111700:ENST00000553473:exon3:c.T334G:p.S112A,ENSG00000205754:ENST00000554957:exon3:c.T334G:p.S112A,ENSG00000111700:ENST00000261196:exon4:c.T334G:p.S112A,ENSG00000111700:ENST00000540853:exon4:c.T334G:p.S112A,ENSG00000111700:ENST00000381545:exon5:c.T334G:p.S112A Score=536;Name=lod=201 NA 12p12.2 NA NA NA NA rs4149117 0.71 0.71 0.694 0.702476 0.8648 0.6974 0.8372 0.3563 0.9131 0.85 0.72 0.86 0.38 0.8045 0.86 1 T 0.0 B 0.001 B 0.000 N 0.000 P -1.095 N 0.68 T -0.938 T 0.000 T 0.308 -0.003 3.999 3.99 0.797 5.297 13.290 -0.002855 NA 1 0.863806 0.448025 NA 0.696 NA 7.8002274 880 10 95454681 95454681 G C exonic FRA10AC1 NA nonsynonymous SNV FRA10AC1:NM_145246:exon5:c.C233G:p.T78R exonic ENSG00000148690 NA nonsynonymous SNV ENSG00000148690:ENST00000359204:exon5:c.C233G:p.T78R,ENSG00000148690:ENST00000371430:exon5:c.C233G:p.T78R,ENSG00000148690:ENST00000394100:exon5:c.C233G:p.T78R,ENSG00000148690:ENST00000536233:exon5:c.C233G:p.T78R Score=617;Name=lod=428 NA 10q23.33 NA NA NA NA rs2275438 0.4 0.4 0.373 0.360623 0.5447 0.3978 0.4539 0.0696 0.4601 0.56 0.41 0.45 0.1 0.4728 0.56 0.2 T 0.002 B 0.003 B 0.002 N 0.933 P -0.41 N 2.07 T -0.947 T 0.000 T 0.128 1.498 10.96 -0.297 0.130 2.067 8.588 1.498328 1.498328 0.34 0.516279 0.142825 NA 0.384 NA 7.7995544 880 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 880 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=E2F6,Pol2,HA-E2F1,GABP,Egr-1,Pol2(b) 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 880 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 880 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 880 11 4967468 4967468 G A exonic OR51A4 NA nonsynonymous SNV OR51A4:NM_001005329:exon1:c.C863T:p.T288M exonic ENSG00000205497 NA nonsynonymous SNV ENSG00000205497:ENST00000380373:exon1:c.C863T:p.T288M Score=321;Name=lod=27 NA 11p15.4 NA NA NA NA rs28698374 0.85 0.85 0.869 0.848842 0.836 0.9107 0.9092 0.7995 0.8221 0.82 0.92 0.9 0.78 0.8493 0.92 0.71 T 0.005 B 0.003 B . . 0.000 P -2.915 N 1.23 T -0.996 T 0.000 T 0.032 -1.495 0.017 3.26 0.453 5.389 7.685 -1.494586 NA 1 0.850512 0.8 NA 0.739 NA 7.7975214 880 17 39890876 39890876 T C exonic HAP1 NA nonsynonymous SNV HAP1:NM_001079870:exon1:c.A11G:p.K4R,HAP1:NM_001079871:exon1:c.A11G:p.K4R,HAP1:NM_177977:exon1:c.A11G:p.K4R exonic ENSG00000173805 NA nonsynonymous SNV ENSG00000173805:ENST00000310778:exon1:c.A11G:p.K4R,ENSG00000173805:ENST00000341193:exon1:c.A11G:p.K4R,ENSG00000173805:ENST00000347901:exon1:c.A11G:p.K4R,ENSG00000173805:ENST00000393939:exon1:c.A11G:p.K4R NA NA 17q21.2 NA Name=TCF4,Nrf1,TBP,TAF7_(SQ-8),Pol2,HEY1,TAF1,Pol2-4H8,GABP Name=75 NA rs4796604 0.54 0.54 0.475 0.547125 0.5 0.7073 0.5965 0.2897 0.7434 0.51 0.74 0.55 0.33 0.5886 0.74 0.73 T 0.004 B 0.007 B . . 1.000 P 0.46 N 2.88 T -1.014 T 0.000 T 0.027 2.589 14.62 0.545 0.061 0.539 4.831 2.589197 2.589197 0.33 0.448124 0.279612 NA 0.478 NA 7.7966094 880 12 8278195 8278195 G A exonic CLEC4A NA nonsynonymous SNV CLEC4A:NM_016184:exon2:c.G121A:p.G41R,CLEC4A:NM_194450:exon2:c.G121A:p.G41R exonic ENSG00000111729 NA nonsynonymous SNV ENSG00000111729:ENST00000229332:exon2:c.G121A:p.G41R,ENSG00000111729:ENST00000352620:exon2:c.G121A:p.G41R,ENSG00000111729:ENST00000546339:exon2:c.G88A:p.G30R NA NA 12p13.31 NA NA NA NA rs117213717 0.01 0.01 0.005 0.00459265 0.0169 NA 0.0086 NA NA 0.02 NA 0.01 NA 0.0071 0.02 0.55 T 0.933 P 0.245 B . . 1.000 N 1.845 L 5.44 T -1.029 T 0.056 T 0.392 0.287 5.555 0.236 0.027 -0.255 7.220 0.287352 NA 0.05 0.01314 0.002497 NA 0.007 NA 7.7961934 880 22 21354970 21354970 C G exonic THAP7 NA nonsynonymous SNV THAP7:NM_030573:exon3:c.G343C:p.A115P,THAP7:NM_001008695:exon4:c.G343C:p.A115P exonic ENSG00000184436 NA nonsynonymous SNV ENSG00000184436:ENST00000215742:exon3:c.G343C:p.A115P,ENSG00000184436:ENST00000399133:exon4:c.G343C:p.A115P NA NA 22q11.21 Score=879;Name=V$ATF_01 Name=CTCF,Pol2(b) NA NA rs426938 0.86 0.86 0.839 0.854633 0.84 0.8591 0.8818 0.8502 0.8517 0.86 0.86 0.88 0.85 0.8394 0.88 0.69 T 0.0 B 0.0 B 0.888 N 1.000 P -0.345 N -3.75 D -0.977 T 0.000 T 0.024 -1.997 0.007 0.539 -0.124 0.221 3.205 -1.997352 NA 0.7 0.858372 0.847481 ID=COSM149260;OCCURENCE=1(stomach) 0.891 NA 7.7955614 880 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,KAP1,ZNF274 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 881 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 881 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 881 17 80895933 80895933 A G exonic TBCD NA nonsynonymous SNV TBCD:NM_005993:exon36:c.A3290G:p.E1097G exonic ENSG00000141556 NA nonsynonymous SNV ENSG00000141556:ENST00000577051:exon5:c.A494G:p.E165G,ENSG00000141556:ENST00000355528:exon36:c.A3290G:p.E1097G,ENSG00000141556:ENST00000539345:exon37:c.A3404G:p.E1135G Score=478;Name=lod=117 NA 17q25.3 NA NA NA NA rs3785522 0.91 0.91 0.908 0.930911 0.8588 0.9355 0.8689 0.9856 0.9703 0.84 0.94 0.9 0.99 0.8615 0.99 . . 0.0 B 0.0 B 0.000 N 0.000 P -2.215 N 2.34 T -0.977 T 0.000 T 0.135 -1.682 0.012 2.91 -0.002 2.702 11.693 -1.681934 NA 0.42 0.820364 0.957035 ID=COSM437857;OCCURENCE=1(breast) 0.935 NA 7.7926694 881 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 881 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 881 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 881 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 881 1 53676448 53676448 G A exonic CPT2 NA nonsynonymous SNV CPT2:NM_000098:exon4:c.G1102A:p.V368I exonic ENSG00000157184 NA nonsynonymous SNV ENSG00000157184:ENST00000371486:exon4:c.G1102A:p.V368I NA NA 1p32.3 NA NA NA NA rs1799821 0.5 0.5 0.486 0.413139 0.5179 0.7242 0.3818 0.2564 0.2188 0.51 0.73 0.39 0.3 0.4841 0.73 1 T 0.011 B 0.004 B 0.005 N 0.999 P -0.36 N -2.47 D -0.955 T 0.000 T 0.077 -2.112 0.006 -0.261 0.038 -0.054 10.737 -2.112224 NA 1 0.541628 0.290059 NA 0.486 CLINSIG=other|non-pathogenic|non-pathogenic;CLNDBN=Encephalopathy\x2c_acute\x2c_infection-induced\x2c_4\x2c_susceptibility_to|not_specified|not_provided;CLNREVSTAT=single|single|single;CLNACC=RCV000023026.1|RCV000078116.1|RCV000124601.1;CLNDSDB=MedGen:OMIM:Orphanet|.|.;CLNDSDBID=C3280160:614212:ORPHA263524|.|. 7.7897054 881 11 68773403 68773403 G A exonic MRGPRF NA synonymous SNV MRGPRF:NM_001098515:exon3:c.C375T:p.C125C,MRGPRF:NM_145015:exon3:c.C375T:p.C125C exonic ENSG00000172935 NA synonymous SNV ENSG00000172935:ENST00000309099:exon3:c.C375T:p.C125C,ENSG00000172935:ENST00000441623:exon3:c.C375T:p.C125C Score=309;Name=lod=24 NA 11q13.3 Score=840;Name=V$OCT1_02 NA Name=5 NA rs11544722 0.23 0.23 0.245 0.232428 0.2694 0.2272 0.1354 0.2065 0.3037 0.27 0.23 0.16 0.22 0.3511 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.400438 NA NA 0.256576 0.203729 NA 0.196 NA 7.7895906 881 17 78293189 78293189 A T exonic RNF213 NA nonsynonymous SNV RNF213:NM_020954:exon17:c.A3101T:p.K1034M exonic ENSG00000173821 NA nonsynonymous SNV ENSG00000173821:ENST00000319921:exon17:c.A3101T:p.K1034M NA NA 17q25.3 NA NA NA NA rs55996424 0.34 0.34 0.304 0.329673 0.1451 0.6121 0.3588 0.2663 0.2935 0.14 0.63 0.34 0.31 0.2373 0.63 . . 0.957 D 0.327 B 0.105 N 1.000 P 0.69 N . . -0.963 T 0.000 T 0.038 1.965 12.53 1.35 0.381 0.150 4.007 1.964889 1.964889 0 0.161977 0.243078 NA 0.239 NA 7.7889564 882 5 35709184 35709184 G C exonic SPEF2 NA nonsynonymous SNV SPEF2:NM_024867:exon19:c.G2800C:p.A934P exonic ENSG00000152582 NA nonsynonymous SNV ENSG00000152582:ENST00000356031:exon19:c.G2800C:p.A934P,ENSG00000152582:ENST00000440995:exon19:c.G2785C:p.A929P,ENSG00000152582:ENST00000509059:exon19:c.G2785C:p.A929P NA NA 5p13.2 NA NA NA NA rs13170390 0.74 0.74 0.754 NA NA NA NA NA NA 0.8 0.8 0.7 0.62 0.7556 0.8 0.29 T 0.0 B 0.0 B 0.198 N 1.000 P -1.5 N 3.31 T -0.985 T 0.000 T 0.03 0.457 6.483 -2.15 -0.922 -2.504 0.399 0.457336 NA 0.36 0.794383 0.67169 NA 0.681 NA 7.7833504 882 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 882 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 882 17 17046024 17046024 C A exonic MPRIP NA nonsynonymous SNV MPRIP:NM_015134:exon8:c.C980A:p.P327Q,MPRIP:NM_201274:exon8:c.C980A:p.P327Q exonic ENSG00000133030 NA nonsynonymous SNV ENSG00000133030:ENST00000584067:exon4:c.C512A:p.P171Q,ENSG00000133030:ENST00000341712:exon8:c.C980A:p.P327Q,ENSG00000133030:ENST00000395804:exon8:c.C980A:p.P327Q,ENSG00000133030:ENST00000395811:exon8:c.C980A:p.P327Q,ENSG00000133030:ENST00000444976:exon8:c.C980A:p.P327Q NA NA 17p11.2 Score=869;Name=V$YY1_01 NA NA NA rs3744137 0.47 0.47 0.406 0.444688 0.5229 0.7113 0.4986 0.0749 0.5511 0.55 0.69 0.48 0.09 0.506 0.69 0.25 T 0.018 B 0.011 B . . 1.000 P 0.755 N 2.18 T -0.989 T 0.000 T 0.117 -0.067 3.672 1.63 1.113 0.648 5.453 -0.067284 NA 0 0.525349 0.144349 NA 0.29 NA 7.7790844 882 17 3397702 3397702 C T exonic ASPA NA synonymous SNV ASPA:NM_000049:exon5:c.C693T:p.Y231Y,ASPA:NM_001128085:exon6:c.C693T:p.Y231Y exonic ENSG00000108381 NA synonymous SNV ENSG00000108381:ENST00000263080:exon5:c.C693T:p.Y231Y,ENSG00000108381:ENST00000456349:exon6:c.C693T:p.Y231Y Score=585;Name=lod=318 NA 17p13.2 Score=817;Name=V$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 882 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$SREBP1_02 NA NA NA rs35446243 0.11 0.11 0.088 0.0888578 0.1859 0.002 0.2363 0.0091 0.0818 0.18 0.0035 0.24 0.02 0.1715 0.24 0.45 T 0.023 B 0.012 B 0.094 N 1.000 P -0.03 N 0.66 T -1.013 T 0.000 T 0.027 0.729 7.875 1.21 0.691 0.246 1.576 0.72906 NA 0.15 0.199157 0.041071 NA 0.058 NA 7.7767764 882 12 52681925 52681925 A C exonic KRT81 NA nonsynonymous SNV KRT81:NM_002281:exon5:c.T743G:p.L248R exonic ENSG00000205426 NA nonsynonymous SNV ENSG00000205426:ENST00000327741:exon5:c.T743G:p.L248R NA NA 12q13.13 NA Name=Pol2 Name=2 NA rs6580873 0.92 0.92 0.926 0.936102 0.8519 0.996 0.9207 0.9887 0.9008 0.85 1 0.88 0.98 0.8753 1 1 T 0.0 B 0.0 B 0.002 N 0.003 P . . -1.05 T -0.926 T 0.000 T 0.054 -2.119 0.006 2.73 0.406 -0.476 3.376 -2.118797 NA 0.99 0.829535 0.971403 NA 0.978 NA 7.7765984 882 19 1047161 1047161 A G exonic ABCA7 NA synonymous SNV ABCA7:NM_019112:exon15:c.A1851G:p.G617G exonic ENSG00000064687 NA synonymous SNV ENSG00000064687:ENST00000435683:exon9:c.A1437G:p.G479G,ENSG00000064687:ENST00000433129:exon14:c.A1851G:p.G617G,ENSG00000064687:ENST00000263094:exon15:c.A1851G:p.G617G Score=501;Name=lod=145 NA 19p13.3 Score=680;Name=V$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 882 17 67273882 67273882 C A exonic ABCA5 NA nonsynonymous SNV ABCA5:NM_018672:exon18:c.G2494T:p.A832S,ABCA5:NM_172232:exon19:c.G2494T:p.A832S exonic ENSG00000154265 NA nonsynonymous SNV ENSG00000154265:ENST00000588877:exon18:c.G2494T:p.A832S,ENSG00000154265:ENST00000392676:exon19:c.G2494T:p.A832S,ENSG00000154265:ENST00000392677:exon19:c.G2494T:p.A832S,ENSG00000154265:ENST00000593153:exon20:c.G2494T:p.A832S NA NA 17q24.3 NA NA Name=2 NA rs536009 0.81 0.81 0.785 0.801717 0.8559 0.9464 0.7478 0.5968 0.9121 0.86 0.96 0.79 0.57 0.8472 0.96 . . 0.0 B 0.001 B 0.008 N 1.000 P -0.14 N -2.11 D -0.959 T 0.000 T 0.021 -0.152 3.259 2.1 -0.096 0.263 9.993 -0.151569 NA 0.95 0.854816 0.628747 NA 0.674 NA 7.7754174 883 1 53544597 53544597 T C exonic PODN NA nonsynonymous SNV PODN:NM_001199082:exon4:c.T1133C:p.V378A,PODN:NM_153703:exon8:c.T1559C:p.V520A,PODN:NM_001199081:exon9:c.T1502C:p.V501A,PODN:NM_001199080:exon10:c.T1502C:p.V501A exonic ENSG00000174348 NA nonsynonymous SNV ENSG00000174348:ENST00000395871:exon4:c.T1133C:p.V378A,ENSG00000174348:ENST00000312553:exon8:c.T1559C:p.V520A,ENSG00000174348:ENST00000371500:exon10:c.T1502C:p.V501A NA NA 1p32.3 Score=677;Name=V$P53_01 NA NA NA rs1288389 0.6 0.6 0.588 0.560903 0.8986 0.3304 0.5793 0.3979 0.6585 0.9 0.32 0.65 0.43 0.7717 0.9 1 T 0.0 B 0.006 B 0.027 N 1.000 P -0.275 N 3.72 T -0.959 T 0.000 T 0.023 -0.514 1.653 3.91 0.655 2.272 11.803 -0.513547 NA 1 0.888138 0.467595 NA 0.587 NA 7.7748954 883 7 78119109 78119109 C T exonic MAGI2 NA synonymous SNV MAGI2:NM_012301:exon6:c.G1014A:p.K338K exonic ENSG00000187391 NA synonymous SNV ENSG00000187391:ENST00000535697:exon5:c.G525A:p.K175K,ENSG00000187391:ENST00000354212:exon6:c.G1014A:p.K338K,ENSG00000187391:ENST00000419488:exon6:c.G1014A:p.K338K,ENSG00000187391:ENST00000522391:exon6:c.G1014A:p.K338K,ENSG00000187391:ENST00000536571:exon6:c.G510A:p.K170K Score=708;Name=lod=1008 NA 7q21.11 NA NA Name=5 NA rs3735442 0.31 0.31 0.275 0.323083 0.2952 0.2321 0.2334 0.4864 0.2883 0.29 0.22 0.27 0.47 0.2942 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.666501 NA NA 0.303605 0.427145 NA 0.333 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117565.2;CLNDSDB=.;CLNDSDBID=. 7.7736616 883 16 11981487 11981487 G A exonic GSPT1 NA synonymous SNV GSPT1:NM_001130006:exon7:c.C894T:p.G298G,GSPT1:NM_001130007:exon7:c.C483T:p.G161G,GSPT1:NM_002094:exon7:c.C897T:p.G299G exonic ENSG00000103342 NA synonymous SNV ENSG00000103342:ENST00000563468:exon5:c.C483T:p.G161G,ENSG00000103342:ENST00000420576:exon7:c.C483T:p.G161G,ENSG00000103342:ENST00000434724:exon7:c.C897T:p.G299G,ENSG00000103342:ENST00000439887:exon7:c.C894T:p.G298G,ENSG00000103342:ENST00000568849:exon7:c.C576T:p.G192G Score=649;Name=lod=581 NA 16p13.13 Score=886;Name=V$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 883 1 85742012 85742012 G C exonic BCL10 NA synonymous SNV BCL10:NM_003921:exon1:c.C24G:p.L8L exonic ENSG00000142867 NA synonymous SNV ENSG00000142867:ENST00000370580:exon1:c.C24G:p.L8L Score=546;Name=lod=221 NA 1p22.3 NA Name=ELF1_(SC-631),ZNF263,JunD,Egr-1,TBP,TAF1,Pol2-4H8,TAF7_(SQ-8),Ini1,YY1_(C-20),Pol2 Name=37 NA rs11576939 0.23 0.23 0.219 0.228235 0.3111 0.0744 0.2032 0.2663 0.2679 0.31 0.08 0.25 0.26 0.2755 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.719394 1.719394 NA 0.306628 0.248071 NA 0.413 NA 7.7734386 883 2 88879131 88879131 T C exonic EIF2AK3 NA synonymous SNV EIF2AK3:NM_004836:exon11:c.A1791G:p.Q597Q exonic ENSG00000172071 NA synonymous SNV ENSG00000172071:ENST00000415570:exon10:c.A1428G:p.Q476Q,ENSG00000172071:ENST00000303236:exon11:c.A1791G:p.Q597Q,ENSG00000172071:ENST00000419748:exon11:c.A1338G:p.Q446Q Score=559;Name=lod=250 NA 2p11.2 Score=794;Name=V$GFI1_01 NA NA NA rs1805164 0.29 0.29 0.278 0.258187 0.3062 0.3115 0.3617 0.1989 0.1605 0.31 0.32 0.36 0.19 0.2854 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.519669 NA NA 0.301977 0.21675 NA 0.377 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116967.2;CLNDSDB=.;CLNDSDBID=. 7.7730896 883 11 57799371 57799371 G C exonic OR6Q1 NA nonsynonymous SNV OR6Q1:NM_001005186:exon1:c.G947C:p.G316A exonic ENSG00000172381 NA nonsynonymous SNV ENSG00000172381:ENST00000302622:exon1:c.G947C:p.G316A NA NA 11q12.1 NA NA NA NA rs1374570 0.47 0.47 0.479 0.418131 0.5417 0.244 0.5418 0.4871 0.2894 0.54 0.28 0.58 0.5 0.4775 0.58 0.05 D 0.1 B 0.036 B 0.432 N 1.000 P 0.695 N 4.45 T -1.068 T 0.000 T 0.111 1.234 10.01 2.38 0.443 0.146 11.799 1.2345 1.2345 0.07 0.545127 0.506305 NA 0.442 NA 7.7690064 883 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 883 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=Oct-2,YY1_(C-20),Sin3Ak-20,PU.1,NANOG_(SC-33759),BRCA1_(C-1863),YY1,TBP,ELK4,Pol2(b),CTCFL_(SC-98982),GTF2F1_(RAP-74),HA-E2F1,Pol2,USF2,CTCF,POU2F2,TAF7_(SQ-8),CTCF_(SC-5916),Pol2-4H8,SP2_(SC-643),GABP,NFKB,RFX5_(N-494),TAF1,ETS1,HEY1,KAP1,ELF1_(SC-631),STAT1 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 883 14 21109385 21109385 C T exonic OR6S1 NA nonsynonymous SNV OR6S1:NM_001001968:exon1:c.G466A:p.V156I exonic ENSG00000181803 NA nonsynonymous SNV ENSG00000181803:ENST00000320704:exon1:c.G466A:p.V156I NA NA 14q11.2 Score=836;Name=V$NFKB_C NA NA NA rs11622969 0.46 0.46 0.469 0.448482 0.5219 0.252 0.5375 0.4887 0.4581 0.53 0.28 0.59 0.47 0.4998 0.59 0.06 T 0.092 B 0.028 B 0.198 N 1.000 P 0.01 N 1.19 T -0.956 T 0.000 T 0.009 0.169 4.909 -0.768 -0.153 -1.513 2.650 0.168995 NA 0.15 0.544186 0.509986 NA 0.37 NA 7.7674474 883 11 82973004 82973004 C T exonic CCDC90B NA synonymous SNV CCDC90B:NM_021825:exon9:c.G714A:p.S238S exonic ENSG00000137500 NA nonsynonymous SNV ENSG00000137500:ENST00000527495:exon6:c.G380A:p.R127Q NA NA 11q14.1 NA NA NA NA rs8789 0.43 0.43 0.474 0.46865 0.4056 0.3502 0.3285 0.6316 0.5348 0.41 0.34 0.36 0.63 0.4151 0.63 . . . . . . . . 0.000 P . . 0.93 T -0.972 T 0.000 T . 2.507 14.34 -10.4 -1.470 -2.556 5.236 2.507009 2.507009 NA 0.411977 0.587608 NA 0.543 NA 7.767323 883 16 22155629 22155629 A G exonic VWA3A NA nonsynonymous SNV VWA3A:NM_173615:exon26:c.A2654G:p.N885S exonic ENSG00000175267 NA nonsynonymous SNV ENSG00000175267:ENST00000389398:exon26:c.A2654G:p.N885S Score=410;Name=lod=62 NA 16p12.2 NA NA NA NA rs9937453 0.36 0.36 0.386 0.371805 0.16 0.5982 0.1542 0.5318 0.2945 0.16 0.58 0.15 0.57 0.235 0.58 0.65 T 0.007 B 0.001 B 0.785 N 0.000 P 0.835 L 2.73 T -0.938 T 0.000 T 0.004 1.012 9.133 -1.42 -0.488 0.517 9.750 1.011929 NA 0.42 0.17109 0.435693 NA 0.261 NA 7.7672434 883 16 336396 336396 G A exonic PDIA2 NA nonsynonymous SNV PDIA2:NM_006849:exon8:c.G1163A:p.R388Q exonic ENSG00000185615 NA nonsynonymous SNV ENSG00000185615:ENST00000435833:exon2:c.G50A:p.R17Q,ENSG00000185615:ENST00000219406:exon8:c.G1163A:p.R388Q,ENSG00000185615:ENST00000404312:exon8:c.G1154A:p.R385Q NA NA 16p13.3 NA NA NA NA rs400037 0.18 0.18 0.198 0.16853 0.1899 0.0377 0.1455 0.3457 0.0583 0.18 0.05 0.14 0.36 0.1732 0.36 1 T 0.005 B 0.005 B 0.760 N 1.000 P -0.97 N 3.97 T -0.919 T 0.000 T 0.057 -1.424 0.021 -2.31 -0.251 -0.094 9.788 -1.423957 NA 0.9 0.203515 0.299109 NA 0.196 NA 7.7667184 883 1 67266756 67266756 T A exonic INSL5 NA nonsynonymous SNV INSL5:NM_005478:exon1:c.A149T:p.Q50L exonic ENSG00000172410 NA nonsynonymous SNV ENSG00000172410:ENST00000304526:exon1:c.A149T:p.Q50L NA NA 1p31.3 NA NA NA NA rs549148 0.88 0.88 0.861 0.871206 0.83 0.9901 0.8919 0.7821 0.8967 0.84 1 0.86 0.81 0.8764 1 1 T 0.0 B 0.0 B 0.091 N 1.000 P -1.665 N -2.49 D -0.901 T 0.076 T 0.035 0.031 4.175 -5.74 -2.118 -0.361 6.518 0.030974 NA 1 0.860349 0.807989 NA 0.841 NA 7.7665844 883 12 80747242 80747242 A G exonic OTOGL NA nonsynonymous SNV OTOGL:NM_173591:exon45:c.A5518G:p.I1840V exonic ENSG00000165899 NA nonsynonymous SNV ENSG00000165899:ENST00000458043:exon45:c.A5518G:p.I1840V,ENSG00000165899:ENST00000547103:exon45:c.A5482G:p.I1828V NA NA 12q21.31 NA Name=ERalpha_a,GATA-2,ELF1_(SC-631) Name=77 NA rs7297767 0.82 0.82 0.81 0.834065 0.8539 0.8056 0.8285 0.8071 0.8834 0.85 0.79 0.84 0.79 0.8531 0.89 0.57 T . . . . . . 0.000 P 0.805 L -1.11 T -0.982 T 0.000 T 0.094 0.843 8.406 0.8 0.114 0.995 10.395 0.843147 NA 0.11 0.859793 0.814682 NA 0.841 NA 7.7665404 883 16 89294381 89294381 T C exonic ZNF778 NA nonsynonymous SNV ZNF778:NM_182531:exon6:c.T1601C:p.I534T,ZNF778:NM_001201407:exon7:c.T1685C:p.I562T exonic ENSG00000170100 NA nonsynonymous SNV ENSG00000170100:ENST00000306502:exon5:c.T1475C:p.I492T,ENSG00000170100:ENST00000433976:exon6:c.T1601C:p.I534T Score=420;Name=lod=68 NA 16q24.3 NA Name=SETDB1 NA NA rs28415940 0.75 0.75 0.739 0.701078 0.8738 0.7123 0.8199 0.4955 0.7055 0.87 0.72 0.87 0.54 0.8086 0.88 0.12 T 0.002 B 0.005 B . . 1.000 P -0.52 N 3.21 T -1.085 T 0.000 T 0.027 0.631 7.394 -0.166 -0.077 -1.652 1.978 0.631427 NA 0.23 0.884418 0.581038 NA 0.703 NA 7.7665154 883 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=E2F6_(H-50),CTCF,ZBTB7A_(SC-34508),CTCFL_(SC-98982) 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 884 7 27169093 27169093 T G exonic HOXA4 NA synonymous SNV HOXA4:NM_002141:exon2:c.A714C:p.R238R exonic ENSG00000197576 NA synonymous SNV ENSG00000197576:ENST00000360046:exon2:c.A714C:p.R238R,ENSG00000197576:ENST00000428284:exon2:c.A714C:p.R238R Score=716;Name=lod=1086 NA 7p15.2 NA Name=SUZ12 NA Score=88;Name=2162912.0_0_-_88 rs2158218 0.97 0.97 0.967 0.955471 0.9652 0.998 0.9769 0.9115 0.9458 0.97 1 0.97 0.92 0.9628 1 0 D . . . . . . 0.000 P . . . . -1.011 T 0.000 T . 1.033 9.221 1.97 0.222 -0.085 5.884 1.033319 NA NA 0.973721 0.91035 NA 0.971 NA 7.7649456 884 6 16145325 16145325 A G exonic MYLIP NA nonsynonymous SNV MYLIP:NM_013262:exon6:c.A1025G:p.N342S exonic ENSG00000007944 NA nonsynonymous SNV ENSG00000007944:ENST00000349606:exon5:c.A482G:p.N161S,ENSG00000007944:ENST00000356840:exon6:c.A1025G:p.N342S NA NA 6p22.3 NA NA NA NA rs9370867 0.74 0.74 0.75 0.769968 0.4861 0.9435 0.6945 0.9652 0.6728 0.49 0.95 0.66 0.95 0.6066 0.95 1 T 0.0 B 0.0 B 0.029 N 1.000 P 0 N 1.16 T -1.070 T 0.107 T 0.001 -1.313 0.035 3.85 0.415 1.572 9.937 -1.312768 NA 1 0.476047 0.886518 NA 0.674 NA 7.7645864 884 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 884 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 884 19 18255359 18255359 G A exonic MAST3 NA nonsynonymous SNV MAST3:NM_015016:exon22:c.G2581A:p.G861S exonic ENSG00000099308 NA nonsynonymous SNV ENSG00000099308:ENST00000262811:exon22:c.G2581A:p.G861S NA NA 19p13.11 NA NA NA NA rs8108738 0.51 0.51 0.496 0.532149 0.502 0.6806 0.5245 0.3215 0.7004 0.49 0.69 0.51 0.31 0.5478 0.69 0.96 T 0.002 B 0.002 B 0.131 N 1.000 P 1.87 L -0.15 T -0.914 T 0.000 T 0.036 0.422 6.292 2.28 0.283 2.388 8.382 0.421969 NA 0.35 0.521354 0.341546 NA 0.493 NA 7.7621794 884 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$HEN1_02 NA NA NA rs6780995 0.5 0.5 0.479 0.530152 0.7147 0.1369 0.5216 0.5741 0.6922 0.72 0.12 0.6 0.53 0.649 0.72 0.11 T 0.943 P 0.302 B 0.088 N 0.790 P 0.695 N 2.9 T -1.079 T 0.000 T 0.101 1.995 12.63 -0.521 -0.011 0.831 10.944 1.995041 1.995041 0.02 0.707791 0.584657 NA 0.638 NA 7.7618424 884 7 76033805 76033805 A T UTR5 SRCRB4D NM_080744:c.-49T>A NA NA UTR5 ENSG00000146700 ENST00000275560:c.-49T>A NA NA Score=426;Name=lod=72 NA 7q11.23 Score=843;Name=V$ATF_01 Name=ZNF263 Name=17 NA rs11773653 0.12 0.12 0.128 0.111222 0.1909 0.0546 0.1009 0.0446 0.1851 0.2 0.07 0.11 0.05 0.1684 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.099036 NA NA 0.212791 0.082161 NA 0.138 NA 7.7612424 884 3 13421150 13421150 C T exonic NUP210 NA nonsynonymous SNV NUP210:NM_024923:exon7:c.G889A:p.A297T exonic ENSG00000132182 NA nonsynonymous SNV ENSG00000132182:ENST00000254508:exon7:c.G889A:p.A297T NA NA 3p25.1 NA NA NA NA rs7628051 0.53 0.53 0.577 0.516973 0.5239 0.3323 0.4236 0.8215 0.3548 0.51 0.36 0.44 0.8 0.505 0.8 0.48 T 0.0 B 0.0 B 0.457 N 1.000 P 0.69 N 3.45 T -1.073 T 0.000 T 0.003 0.288 5.556 2.96 1.129 0.152 8.566 0.287518 NA 0.42 0.543256 0.757603 NA 0.674 NA 7.7611774 884 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 884 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 884 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 884 1 153314153 153314153 C A exonic PGLYRP4 NA nonsynonymous SNV PGLYRP4:NM_020393:exon6:c.G575T:p.G192V exonic ENSG00000163218 NA nonsynonymous SNV ENSG00000163218:ENST00000359650:exon6:c.G575T:p.G192V,ENSG00000163218:ENST00000368739:exon6:c.G563T:p.G188V Score=333;Name=lod=30 NA 1q21.3 NA NA Name=2 NA rs3006448 0.85 0.85 0.847 0.844449 0.8767 0.9058 0.866 0.7466 0.865 0.89 0.89 0.86 0.73 0.8447 0.89 0.38 T 0.0 B 0.0 B 0.099 N 0.842 P -1.555 N 3.58 T -0.935 T 0.001 T 0.055 -2.107 0.006 3.02 0.150 0.898 4.553 -2.107488 NA 0.25 0.851512 0.769859 NA 0.761 NA 7.7604214 884 2 27887034 27887034 C A exonic SLC4A1AP NA nonsynonymous SNV SLC4A1AP:NM_018158:exon1:c.C415A:p.P139T exonic ENSG00000163798 NA nonsynonymous SNV ENSG00000163798:ENST00000326019:exon1:c.C415A:p.P139T NA NA 2p23.3 NA Name=ZNF263,CTCF Name=148 NA rs9678851 0.34 0.34 0.315 0.339058 0.5388 0.0794 0.3501 0.2534 0.5092 0.55 0.08 0.42 0.26 0.4731 0.56 0.67 T 0.026 B 0.014 B 0.941 N 1.000 P 1.39 L 1.28 T -0.906 T 0.000 T 0.019 1.74 11.78 -1.94 -0.042 -0.550 7.715 1.740201 1.740201 0.07 0.561279 0.312443 NA 0.435 NA 7.7601544 884 8 145641564 145641564 T G exonic SLC39A4 NA nonsynonymous SNV SLC39A4:NM_017767:exon1:c.A29C:p.E10A exonic ENSG00000147804 NA nonsynonymous SNV ENSG00000147804:ENST00000276833:exon1:c.A29C:p.E10A NA NA 8q24.3 NA NA NA NA rs2280839 0.49 0.49 0.484 0.434105 0.5268 0.38 0.4135 0.4561 0.3793 0.55 0.42 0.46 0.49 0.5157 0.55 0 D 0.0 B 0.001 B . . 1.000 P 0 N 0.09 T -0.926 T 0.000 T 0.071 2.115 13.03 -3.1 -0.557 -0.695 5.3 2.114534 2.114534 0.12 0.531055 0.474467 NA 0.464 NA 7.7597784 884 14 65031534 65031534 C T exonic PPP1R36 NA nonsynonymous SNV PPP1R36:NM_172365:exon4:c.C248T:p.T83I exonic ENSG00000165807 NA nonsynonymous SNV ENSG00000165807:ENST00000298705:exon4:c.C248T:p.T83I NA NA 14q23.3 NA NA NA NA rs6573560 0.61 0.61 0.584 0.617812 0.493 0.6597 0.6095 0.7209 0.5695 0.5 0.66 0.6 0.72 0.5697 0.72 0.63 T 0.0 B 0.0 B 0.881 N 1.000 P -0.805 N 1.28 T -0.956 T 0.000 T 0.021 -1.512 0.016 -4.04 -0.715 -1.585 1.768 -1.511987 NA 0.49 0.51093 0.690195 NA 0.587 NA 7.7597034 884 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 884 16 774692 774692 A G exonic CCDC78 NA nonsynonymous SNV CCDC78:NM_001031737:exon8:c.T754C:p.W252R exonic ENSG00000162004 NA nonsynonymous SNV ENSG00000162004:ENST00000293889:exon8:c.T754C:p.W252R NA NA 16p13.3 NA NA Name=3 NA rs2071950 0.64 0.64 0.586 0.700879 0.498 0.7966 0.6239 0.705 0.8599 0.51 0.81 0.59 0.69 0.6039 0.81 1 T 0.0 B 0.0 B 0.392 N 1.000 P -1.15 N 1.68 T -0.986 T 0.000 T 0.526 -1.113 0.132 1.78 0.212 -0.646 8.840 -1.112714 NA 1 0.472112 0.661098 NA 0.536 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116603.1;CLNDSDB=.;CLNDSDBID=. 7.7593214 884 12 96288860 96288860 T C exonic CCDC38 NA nonsynonymous SNV CCDC38:NM_182496:exon8:c.A679G:p.M227V exonic ENSG00000165972 NA nonsynonymous SNV ENSG00000165972:ENST00000344280:exon8:c.A679G:p.M227V Score=393;Name=lod=53 NA 12q23.1 NA NA NA NA rs10859974 0.25 0.25 0.239 0.245208 0.1988 0.4236 0.1282 0.2738 0.1534 0.22 0.39 0.11 0.25 0.2022 0.39 0.25 T 0.0 B 0.0 B 0.001 N 0.000 P -1.15 N 3.02 T -0.915 T 0.000 T 0.047 0.617 7.32 -1.62 -0.122 -0.095 0.360 0.61685 NA 0.26 0.17318 0.27124 NA 0.246 NA 7.7591534 884 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 884 X 107437848 107437848 G C intronic COL4A6 NA NA NA exonic ENSG00000197565 NA nonsynonymous SNV ENSG00000197565:ENST00000394872:exon16:c.C921G:p.F307L NA NA Xq22.3 NA NA NA NA rs1266719 0.48 0.48 0.47774 NA NA NA NA NA NA 0.75 0.23 0.43 0.36 0.6335 0.77 . . . . . . 0.027 N 1.000 P . . -2.64 D -0.997 T 0.000 T 0.049 1.29 10.22 -5.16 -1.618 -0.670 3.627 1.289644 1.289644 1 0.774227 0.391395 NA 0.37 NA 7.7589397 884 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 884 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 884 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 884 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 884 1 205053219 205053219 C T exonic TMEM81 NA nonsynonymous SNV TMEM81:NM_203376:exon1:c.G230A:p.R77Q exonic ENSG00000174529 NA nonsynonymous SNV ENSG00000174529:ENST00000367167:exon1:c.G230A:p.R77Q Score=444;Name=lod=85 NA 1q32.1 NA NA NA NA rs4951168 0.81 0.81 0.78 0.817292 0.8489 0.9762 0.889 0.5545 0.9254 0.85 0.97 0.88 0.5 0.8644 0.97 0.87 T 0.0 B 0.0 B 0.004 N 1.000 P -1.175 N 1.45 T -0.964 T 0.000 T 0.035 0.162 4.873 5.5 1.039 0.259 6.989 0.162296 NA 1 0.863256 0.603041 NA 0.754 NA 7.7567774 884 11 18267027 18267027 C T exonic SAA2 NA nonsynonymous SNV SAA2:NM_030754:exon4:c.G266A:p.R89H exonic ENSG00000134339 NA nonsynonymous SNV ENSG00000134339:ENST00000256733:exon4:c.G266A:p.R89H,ENSG00000134339:ENST00000526900:exon4:c.G266A:p.R89H,ENSG00000134339:ENST00000529528:exon5:c.G266A:p.R89H NA NA 11p15.1 NA NA Name=6 NA rs2468844 0.8 0.8 0.779 0.770966 0.8857 0.9276 0.7839 0.6089 0.7014 0.88 0.92 0.78 0.55 0.8314 0.92 0.63 T . . . . 0.602 N 1.000 P . . 2.88 T -1.062 T 0.000 T 0.013 0.232 5.253 -10.0 -4.224 -1.207 10.236 0.232102 NA 0.55 0.859772 0.683038 NA 0.717 NA 7.7564614 884 18 60027241 60027241 C T exonic TNFRSF11A NA nonsynonymous SNV TNFRSF11A:NM_001270949:exon6:c.C575T:p.A192V,TNFRSF11A:NM_001270950:exon6:c.C575T:p.A192V,TNFRSF11A:NM_001270951:exon6:c.C575T:p.A192V,TNFRSF11A:NM_003839:exon6:c.C575T:p.A192V exonic ENSG00000141655 NA nonsynonymous SNV ENSG00000141655:ENST00000269485:exon6:c.C575T:p.A192V,ENSG00000141655:ENST00000586569:exon6:c.C575T:p.A192V Score=399;Name=lod=56 NA 18q21.33 NA NA NA NA rs1805034 0.61 0.61 0.611 0.594249 0.5288 0.6835 0.647 0.6747 0.4233 0.51 0.64 0.63 0.69 0.5368 0.69 . . 0.051 B 0.006 B 0.211 N 1.000 P -0.415 N -0.37 T -0.934 T 0.000 T 0.032 -0.53 1.587 2.62 0.146 0.658 7.304 -0.530032 NA 0.99 0.511279 0.63232 NA 0.681 NA 7.7564544 884 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 884 7 40314243 40314243 A G exonic C7orf10 NA synonymous SNV C7orf10:NM_001193311:exon8:c.A729G:p.L243L,C7orf10:NM_001193313:exon8:c.A729G:p.L243L,C7orf10:NM_024728:exon8:c.A618G:p.L206L exonic ENSG00000175600 NA synonymous SNV ENSG00000175600:ENST00000309930:exon8:c.A729G:p.L243L,ENSG00000175600:ENST00000335693:exon8:c.A729G:p.L243L Score=552;Name=lod=234 NA 7p14.1 NA NA NA NA rs4637704 0.34 0.34 0.319 0.342252 0.2863 0.5 0.3573 0.2133 0.4008 0.29 0.51 0.31 0.23 0.3258 0.51 . . . . . . . . 0.000 P . . . . -0.921 T 0.000 T . 0.769 8.063 -3.31 -0.385 0.023 8.819 0.768527 NA NA 0.298708 0.245557 NA 0.268 NA 7.7558586 884 3 44871505 44871505 A T exonic KIF15 NA nonsynonymous SNV KIF15:NM_020242:exon25:c.A2986T:p.T996S exonic ENSG00000163808 NA nonsynonymous SNV ENSG00000163808:ENST00000425755:exon16:c.A1891T:p.T631S,ENSG00000163808:ENST00000326047:exon25:c.A2986T:p.T996S NA NA 3p21.31 NA NA NA NA rs11710339 0.09 0.09 0.088 0.063099 0.2197 NA 0.0836 0.0159 0.0164 0.22 NA 0.08 0.01 0.1497 0.22 0.77 T 0.0 B 0.009 B 0.500 N 1.000 P 0.6 N 1.02 T -0.994 T 0.000 T 0.014 1.084 9.425 -4.04 -0.345 0.083 6.545 1.084041 NA 0.48 0.208605 0.044939 NA 0.043 NA 7.7553284 885 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 885 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 885 11 65632262 65632262 G T exonic MUS81 NA synonymous SNV MUS81:NM_025128:exon12:c.G1248T:p.T416T exonic ENSG00000172732 NA synonymous SNV ENSG00000172732:ENST00000308110:exon12:c.G1248T:p.T416T,ENSG00000172732:ENST00000533035:exon12:c.G1023T:p.T341T NA NA 11q13.1 Score=765;Name=V$MYOGNF1_01 NA NA NA rs558114 0.45 0.45 0.454 0.428315 0.668 0.3323 0.4063 0.202 0.6022 0.67 0.3 0.49 0.24 0.5789 0.67 . . . . . . . . 0.000 P . . . . -1.051 T 0.000 T . 0.221 5.193 -11.8 -4.580 -7.397 4.159 0.221105 NA NA 0.667598 0.261018 NA 0.478 NA 7.7521686 885 X 130415818 130415818 T C exonic IGSF1 NA synonymous SNV IGSF1:NM_001170962:exon7:c.A1320G:p.E440E,IGSF1:NM_001170961:exon8:c.A1347G:p.E449E,IGSF1:NM_001555:exon8:c.A1347G:p.E449E exonic ENSG00000147255 NA synonymous SNV ENSG00000147255:ENST00000370910:exon7:c.A1320G:p.E440E,ENSG00000147255:ENST00000361420:exon8:c.A1347G:p.E449E,ENSG00000147255:ENST00000370903:exon8:c.A1347G:p.E449E,ENSG00000147255:ENST00000370904:exon14:c.A1320G:p.E440E Score=343;Name=lod=33 NA Xq26.2 Score=858;Name=V$OCT1_02 NA NA Score=71;Name=2605313_0_+_71 rs1128617 0.56 0.56 0.55405 NA NA NA NA NA NA 0.45 0.71 0.49 0.59 0.4678 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.022783 NA NA 0.447533 0.536375 NA 0.362 NA 7.7513336 885 19 44981375 44981375 T C exonic ZNF180 NA synonymous SNV ZNF180:NM_013256:exon5:c.A1323G:p.Q441Q exonic ENSG00000167384 NA synonymous SNV ENSG00000167384:ENST00000391956:exon4:c.A1248G:p.Q416Q,ENSG00000167384:ENST00000221327:exon5:c.A1323G:p.Q441Q,ENSG00000167384:ENST00000592529:exon5:c.A1242G:p.Q414Q NA NA 19q13.31 Score=914;Name=V$CEBP_01 Name=ZNF274,KAP1,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 885 2 17998025 17998025 A T exonic MSGN1 NA nonsynonymous SNV MSGN1:NM_001105569:exon1:c.A240T:p.E80D exonic ENSG00000151379 NA nonsynonymous SNV ENSG00000151379:ENST00000281047:exon1:c.A240T:p.E80D NA NA 2p24.2 Score=717;Name=V$NRSF_01 NA NA NA rs34069439 0.33 0.33 0.327 0.321885 0.5398 0.0268 0.3559 0.2814 0.4325 0.54 0.03 0.41 0.3 0.461 0.58 0.64 T 0.0 B 0.0 B 0.198 N 1.000 P -1.1 N 2.35 T -0.971 T 0.000 T 0.031 -2.296 0.004 2.33 0.087 -0.049 0.890 -2.296235 NA 0.58 0.582708 0.350128 NA 0.457 NA 7.7498254 885 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 885 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 885 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),TAF7_(SQ-8),TAF1 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 885 17 76528790 76528790 A G exonic DNAH17 NA nonsynonymous SNV DNAH17:NM_173628:exon20:c.T2888C:p.I963T exonic ENSG00000187775 NA nonsynonymous SNV ENSG00000187775:ENST00000389840:exon20:c.T2888C:p.I963T,ENSG00000187775:ENST00000585328:exon20:c.T2879C:p.I960T NA NA 17q25.3 NA NA NA NA rs11651537 0.48 0.48 0.476 0.458866 0.5318 0.4157 0.4179 0.5015 0.3998 0.55 0.41 0.46 0.46 0.5236 0.55 0.52 T . . . . . . 1.000 P 0.895 L 1.9 T -0.926 T 0.000 T 0.284 -0.887 0.466 2.99 1.947 0.453 4.721 -0.886596 NA 0.59 0.530934 0.499238 NA 0.442 NA 7.7469994 885 3 182631792 182631792 C A intronic ATP11B NA NA NA exonic ENSG00000058063 NA unknown UNKNOWN Score=583;Name=lod=311 NA 3q26.33 NA Name=PU.1,GATA3_(SC-268),EBF1_(C-8),Pbx3 Name=22 NA rs11925959 0.36 0.36 0.349 0.352436 0.2386 0.5417 0.2867 0.3684 0.2996 0.22 0.55 0.3 0.41 0.2873 0.55 . . . . . . . . 0.000 P . . . . -0.920 T 0.000 T . 0.929 8.785 -1.85 -0.411 0.697 2.704 0.929211 NA NA 0.228605 0.335906 NA 0.283 NA 7.745495 885 15 80191343 80191343 G A exonic ST20 NA nonsynonymous SNV ST20:NM_001100879:exon3:c.C170T:p.P57L,ST20:NM_001100880:exon3:c.C170T:p.P57L,ST20:NM_001199757:exon3:c.C170T:p.P57L exonic ENSG00000180953 NA nonsynonymous SNV ENSG00000180953:ENST00000562759:exon2:c.C170T:p.P57L,ENSG00000180953:ENST00000478497:exon3:c.C170T:p.P57L,ENSG00000180953:ENST00000485386:exon3:c.C170T:p.P57L NA NA 15q25.1 NA Name=CEBPB,p300_(N-15),FOXA2_(SC-6554),STAT3,FOXA1_(SC-101058),FOXA1_(C-20),p300 Name=70 NA rs7257 0.4 0.4 0.38 0.419129 0.5179 0.3085 0.4035 0.3306 0.5624 0.53 0.28 0.45 0.31 0.5131 0.56 1 T 0.008 B 0.002 B . . 1.000 P . . . . -0.929 T 0.000 T 0.075 1.612 11.35 -0.622 -0.178 -0.851 2.775 1.611857 1.611857 1 0.55686 0.345892 NA 0.457 NA 7.7454734 886 11 92534442 92534442 A G exonic FAT3 NA nonsynonymous SNV FAT3:NM_001008781:exon9:c.A8263G:p.I2755V exonic ENSG00000165323 NA nonsynonymous SNV ENSG00000165323:ENST00000298047:exon9:c.A8263G:p.I2755V,ENSG00000165323:ENST00000409404:exon9:c.A8263G:p.I2755V,ENSG00000165323:ENST00000525166:exon9:c.A7813G:p.I2605V Score=423;Name=lod=70 NA 11q14.3 NA NA NA NA rs3847531 0.86 0.86 0.837 0.85643 0.8708 0.9544 0.866 0.73 0.9049 0.88 0.95 0.86 0.72 0.8637 0.95 0.9 T 0.0 B 0.0 B . . 0.000 P -0.02 N 0.18 T -0.957 T 0.000 T 0.031 -1.482 0.018 4.8 0.757 2.014 9.176 -1.481865 NA 1 0.854944 0.753786 NA 0.884 NA 7.7438894 886 10 73537614 73537614 G A exonic CDH23 NA nonsynonymous SNV CDH23:NM_022124:exon37:c.G5023A:p.V1675I exonic ENSG00000107736 NA nonsynonymous SNV ENSG00000107736:ENST00000224721:exon38:c.G5038A:p.V1680I NA NA 10q22.1 NA NA NA NA rs17712523 0.15 0.15 0.14 0.132188 0.2177 0.1518 0.1225 0.0083 0.1984 0.24 0.14 0.14 0.02 0.1789 0.24 0.31 T 0.001 B 0.002 B 0.410 N 0.989 P 0.615 N . . -1.010 T 0.000 T 0.02 1.542 11.11 -1.2 -0.097 0.102 6.235 1.542382 1.542382 0.48 0.193224 0.038988 ID=COSM146951;OCCURENCE=1(stomach) 0.123 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000039194.1|RCV000086975.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.7435094 886 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 886 14 71374702 71374702 G A exonic PCNX NA synonymous SNV PCNX:NM_014982:exon1:c.G135A:p.L45L exonic ENSG00000100731 NA synonymous SNV ENSG00000100731:ENST00000238570:exon1:c.G135A:p.L45L,ENSG00000100731:ENST00000304743:exon1:c.G135A:p.L45L,ENSG00000100731:ENST00000439984:exon1:c.G135A:p.L45L Score=648;Name=lod=573 NA 14q24.2 Score=941;Name=V$P53_02 Name=c-Myc Name=19 NA rs2526882 0.56 0.56 0.571 0.582268 0.6412 0.3859 0.5735 0.5696 0.7474 0.65 0.35 0.62 0.62 0.6352 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.232285 NA NA 0.647442 0.588556 ID=COSM433318;OCCURENCE=1(breast) 0.268 NA 7.7428246 886 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 886 19 57132968 57132968 G A exonic ZNF71 NA nonsynonymous SNV ZNF71:NM_021216:exon3:c.G313A:p.V105I exonic ENSG00000197951 NA nonsynonymous SNV ENSG00000197951:ENST00000328070:exon3:c.G313A:p.V105I,ENSG00000197951:ENST00000599599:exon4:c.G313A:p.V105I NA NA 19q13.43 NA NA NA NA rs2072501 0.23 0.23 0.237 0.252995 0.1899 0.2718 0.2522 0.3192 0.2096 0.18 0.27 0.22 0.27 0.2186 0.31 0.02 D 0.001 B 0.0 B . . 1.000 P -0.035 N 3.24 T -0.923 T 0.000 T 0.011 -0.23 2.889 -0.309 -0.371 -0.271 10.283 -0.230028 NA 0.55 0.18314 0.310486 NA 0.225 NA 7.7416934 886 5 156936364 156936364 T C exonic ADAM19 NA nonsynonymous SNV ADAM19:NM_033274:exon9:c.A850G:p.S284G exonic ENSG00000135074 NA nonsynonymous SNV ENSG00000135074:ENST00000257527:exon9:c.A850G:p.S284G,ENSG00000135074:ENST00000430702:exon9:c.A49G:p.S17G,ENSG00000135074:ENST00000517905:exon9:c.A850G:p.S284G,ENSG00000135074:ENST00000394020:exon10:c.A856G:p.S286G Score=486;Name=lod=126 NA 5q33.3 NA NA NA NA rs1422795 0.38 0.38 0.372 0.414537 0.3569 0.126 0.4438 0.6392 0.4468 0.36 0.14 0.44 0.64 0.3834 0.64 0.24 T 0.897 P 0.294 B 0.073 N 0.610 P 1.335 L -0.07 T -0.915 T 0.000 T 0.185 2.112 13.02 1.33 0.411 0.027 0.422 2.112287 2.112287 0.34 0.351628 0.57921 NA 0.399 NA 7.7414054 886 11 67395714 67395714 C T exonic NUDT8 NA synonymous SNV NUDT8:NM_001243750:exon4:c.G414A:p.E138E exonic ENSG00000167799 NA synonymous SNV ENSG00000167799:ENST00000376693:exon4:c.G414A:p.E138E Score=410;Name=lod=62 NA 11q13.2 NA Name=Pol2-4H8,Pol2 Name=3 NA rs7124513 0.26 0.26 0.221 0.232827 0.332 0.127 0.4496 0.1815 0.1554 0.33 0.11 0.42 0.19 0.2815 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254732 NA NA 0.311839 0.194731 NA 0.297 NA 7.7413276 886 9 117169033 117169033 A G exonic DFNB31 NA nonsynonymous SNV DFNB31:NM_001083885:exon9:c.T689C:p.M230T,DFNB31:NM_001173425:exon9:c.T1838C:p.M613T,DFNB31:NM_015404:exon9:c.T1838C:p.M613T exonic ENSG00000095397 NA nonsynonymous SNV ENSG00000095397:ENST00000374059:exon5:c.T785C:p.M262T,ENSG00000095397:ENST00000265134:exon9:c.T689C:p.M230T,ENSG00000095397:ENST00000362057:exon9:c.T1838C:p.M613T NA NA 9q32 NA NA NA NA rs942519 0.49 0.49 0.483 0.481629 0.5149 0.503 0.5159 0.3585 0.5675 0.51 0.53 0.54 0.37 0.5311 0.55 0.56 T 0.0 B 0.0 B 0.054 N 1.000 P 0 N 4.22 T -0.986 T 0.000 T 0.024 -2.07 0.006 0.056 -0.207 1.225 0.056 -2.069501 NA 0.5 0.546057 0.386518 NA 0.543 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000038881.2;CLNDSDB=.;CLNDSDBID=. 7.7412764 886 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 886 2 88472791 88472791 G A exonic THNSL2 NA nonsynonymous SNV THNSL2:NM_018271:exon1:c.G122A:p.G41E,THNSL2:NM_001244676:exon2:c.G122A:p.G41E exonic ENSG00000144115 NA nonsynonymous SNV ENSG00000144115:ENST00000324166:exon1:c.G122A:p.G41E,ENSG00000144115:ENST00000343544:exon2:c.G122A:p.G41E,ENSG00000144115:ENST00000358591:exon2:c.G122A:p.G41E,ENSG00000144115:ENST00000377254:exon2:c.G122A:p.G41E,ENSG00000144115:ENST00000402102:exon2:c.G122A:p.G41E,ENSG00000144115:ENST00000419759:exon3:c.G122A:p.G41E,ENSG00000144115:ENST00000449349:exon3:c.G26A:p.G9E Score=395;Name=lod=54 NA 2p11.2 NA NA NA NA rs4129190 0.86 0.86 0.861 0.868411 0.8797 0.8591 0.7767 0.9145 0.8691 0.88 0.86 0.78 0.91 0.8563 0.92 1 T 0.0 B 0.0 B 0.030 N 1.000 P -1.55 N 1.74 T -0.982 T 0.000 T 0.337 -1.007 0.25 4.19 0.870 2.305 5.462 -1.007432 NA 1 0.856512 0.915343 NA 0.906 NA 7.7408214 886 15 101606890 101606890 C A exonic LRRK1 NA synonymous SNV LRRK1:NM_024652:exon33:c.C5814A:p.G1938G exonic ENSG00000154237 NA synonymous SNV ENSG00000154237:ENST00000388948:exon33:c.C5814A:p.G1938G,ENSG00000154237:ENST00000284395:exon34:c.C5805A:p.G1935G NA NA 15q26.3 NA NA NA NA rs56193104 0.23 0.23 0.229 0.272165 0.3201 0.3403 0.3559 0.0794 0.3538 0.25 0.31 0.26 0.08 0.3047 0.31 . . . . . . . . 1.000 P . . . . -1.029 T 0.000 T . -1.088 0.154 -11.0 -2.962 -2.718 1.128 -1.088496 NA NA 0.302086 0.101302 NA NA NA 7.7397806 886 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 886 11 102593248 102593248 T C exonic MMP8 NA nonsynonymous SNV MMP8:NM_002424:exon2:c.A259G:p.K87E exonic ENSG00000118113 NA nonsynonymous SNV ENSG00000118113:ENST00000236826:exon2:c.A259G:p.K87E NA NA 11q22.2 NA NA NA NA rs1940475 0.59 0.59 0.592 0.60004 0.5467 0.5685 0.5173 0.7095 0.5982 0.53 0.59 0.54 0.72 0.5423 0.72 0.16 T 0.01 B 0.017 B 0.326 N 1.000 P 1.375 L 1.52 T -0.955 T 0.000 T 0.294 2.615 14.71 -6.06 -1.123 -0.023 12.095 2.615422 2.615422 0.14 0.505699 0.646618 NA 0.572 NA 7.7386344 886 10 73115942 73115942 G A exonic SLC29A3 NA nonsynonymous SNV SLC29A3:NM_001174098:exon5:c.G715A:p.V239I,SLC29A3:NM_018344:exon5:c.G715A:p.V239I exonic ENSG00000198246 NA nonsynonymous SNV ENSG00000198246:ENST00000373189:exon5:c.G715A:p.V239I NA Name=Systemic lupus erythematosus 10q22.1 NA NA NA NA rs2252996 0.64 0.64 0.798 0.760184 0.8847 0.6657 0.647 0.8253 0.7219 0.71 0.56 0.64 0.65 0.8217 0.89 0.5 T 0.002 B 0.02 B 0.645 N 1.000 P 0.93 L -0.28 T -0.980 T 0.000 T 0.083 -0.469 1.834 -2.2 -0.525 0.139 11.691 -0.469068 NA 0.86 0.888721 0.80867 NA NA CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118382.2;CLNDSDB=.;CLNDSDBID=. 7.7382124 886 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 886 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 886 17 5436263 5436263 C T exonic NLRP1 NA nonsynonymous SNV NLRP1:NM_033006:exon10:c.G3085A:p.V1029M,NLRP1:NM_033007:exon10:c.G3085A:p.V1029M,NLRP1:NM_001033053:exon11:c.G3187A:p.V1063M,NLRP1:NM_014922:exon11:c.G3175A:p.V1059M,NLRP1:NM_033004:exon11:c.G3175A:p.V1059M exonic ENSG00000091592 NA nonsynonymous SNV ENSG00000091592:ENST00000354411:exon10:c.G3085A:p.V1029M,ENSG00000091592:ENST00000577119:exon10:c.G3085A:p.V1029M,ENSG00000091592:ENST00000262467:exon11:c.G3187A:p.V1063M,ENSG00000091592:ENST00000345221:exon11:c.G3175A:p.V1059M,ENSG00000091592:ENST00000544378:exon11:c.G3187A:p.V1063M,ENSG00000091592:ENST00000572272:exon11:c.G3175A:p.V1059M,ENSG00000091592:ENST00000269280:exon12:c.G3175A:p.V1059M NA NA 17p13.2 NA NA NA NA rs2301582 0.21 0.21 0.201 0.184305 0.3738 0.0228 0.3573 0.0787 0.1759 0.37 0.03 0.34 0.09 0.3248 0.4 0.09 T 0.769 P 0.055 B 0.758 N 1.000 P 0 N -0.48 T -1.036 T 0.000 T 0.097 0.972 8.966 0.836 0.255 -0.977 6.211 0.97171 NA 0.09 0.397791 0.128688 NA 0.196 NA 7.7369424 886 18 21511034 21511034 C A exonic LAMA3 NA nonsynonymous SNV LAMA3:NM_001127718:exon27:c.C3450A:p.N1150K,LAMA3:NM_000227:exon28:c.C3618A:p.N1206K,LAMA3:NM_001127717:exon64:c.C8277A:p.N2759K,LAMA3:NM_198129:exon65:c.C8445A:p.N2815K exonic ENSG00000053747 NA nonsynonymous SNV ENSG00000053747:ENST00000587184:exon27:c.C3450A:p.N1150K,ENSG00000053747:ENST00000269217:exon28:c.C3618A:p.N1206K,ENSG00000053747:ENST00000399516:exon64:c.C8277A:p.N2759K,ENSG00000053747:ENST00000313654:exon65:c.C8445A:p.N2815K NA NA 18q11.2 NA NA NA NA rs1154232 0.16 0.16 0.143 0.156749 0.2097 0.1815 0.1657 0.0393 0.229 0.22 0.17 0.17 0.04 0.1889 0.22 0.29 T 0.002 B 0.006 B . . 0.000 P 1.445 L -1.1 T -1.097 T 0.000 T 0.101 -0.094 3.542 2.56 0.677 -0.007 5.053 -0.09358 NA 0.12 0.198953 0.062188 NA 0.094 NA 7.7357804 886 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$HTF_01 NA NA NA rs6949654 0.9 0.9 0.91 0.912939 0.8579 0.9226 0.8847 0.9841 0.8834 0.85 0.9 0.88 0.98 0.8767 0.98 1 T 0.0 B 0.0 B 0.056 N 0.000 P -1.995 N 2.54 T -1.000 T 0.000 T 0.055 -1.36 0.027 3.65 0.787 0.090 7.812 -1.360068 NA 0 0.863339 0.963855 NA 0.913 NA 7.7353944 887 14 103986255 103986255 C T exonic CKB NA synonymous SNV CKB:NM_001823:exon8:c.G1092A:p.E364E exonic ENSG00000166165 NA synonymous SNV ENSG00000166165:ENST00000553610:exon4:c.G486A:p.E162E,ENSG00000166165:ENST00000348956:exon8:c.G1092A:p.E364E Score=611;Name=lod=406 NA 14q32.32 Score=784;Name=V$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 887 2 20818764 20818764 C T exonic HS1BP3 NA nonsynonymous SNV HS1BP3:NM_022460:exon7:c.G1162A:p.A388T exonic ENSG00000118960 NA nonsynonymous SNV ENSG00000118960:ENST00000304031:exon7:c.G1162A:p.A388T NA NA 2p24.1 NA NA NA NA rs3732149 0.14 0.14 0.155 0.148363 0.2048 0.0913 0.1398 0.1248 0.1871 0.19 0.08 0.16 0.13 0.1856 0.21 0.56 T 0.008 B 0.003 B 0.616 N 0.067 P 1.7 L 2.09 T -0.949 T 0.000 T 0.012 -1.803 0.009 -1.71 -0.708 -1.464 5.725 -1.8026 NA 0.93 0.208488 0.138675 NA 0.152 NA 7.7344454 887 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 887 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 887 22 38051999 38051999 C T UTR3 SH3BP1 NM_018957:c.*308C>T NA NA ncRNA_UTR3 ENSG00000100092 NA NA NA Score=243;Name=lod=13 NA 22q13.1 NA NA NA NA rs12483880 0.44 0.44 0.44 0.443091 0.3996 0.4802 0.4366 0.4554 0.4376 0.39 0.5 0.44 0.44 0.4398 0.5 0.11 T 0.816 P 0.132 B . . 0.000 P . . . . -0.910 T 0.000 T . 0.649 7.482 3.57 2.122 0.876 10.797 0.648841 NA 0.12 0.427423 0.472032 NA 0.543 NA 7.733177 887 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 887 19 36674305 36674305 A G exonic ZNF565 NA nonsynonymous SNV ZNF565:NM_001042474:exon5:c.T563C:p.I188T,ZNF565:NM_152477:exon5:c.T563C:p.I188T exonic ENSG00000196357 NA nonsynonymous SNV ENSG00000196357:ENST00000591473:exon4:c.T368C:p.I123T,ENSG00000196357:ENST00000304116:exon5:c.T563C:p.I188T,ENSG00000196357:ENST00000355114:exon5:c.T683C:p.I228T,ENSG00000196357:ENST00000392173:exon5:c.T563C:p.I188T Score=428;Name=lod=73 NA 19q13.12 NA NA Name=63 NA rs4805162 0.64 0.64 0.655 0.630391 0.5219 0.6002 0.6398 0.8548 0.4632 0.53 0.65 0.6 0.86 0.5543 0.86 0.22 T 0.003 B 0.018 B 0.096 N 1.000 P -0.22 N 3.73 T -1.106 T 0.000 T 0.018 1.028 9.197 0.744 -0.075 0.064 7.891 1.027608 NA 0.04 0.526047 0.784385 NA 0.638 NA 7.7310864 887 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 887 21 32253629 32253629 C T exonic KRTAP11-1 NA nonsynonymous SNV KRTAP11-1:NM_175858:exon1:c.G215A:p.R72Q exonic ENSG00000182591 NA nonsynonymous SNV ENSG00000182591:ENST00000332378:exon1:c.G215A:p.R72Q NA NA 21q22.11 NA NA NA NA rs71321355 0.12 0.12 0.126 0.144369 0.1978 0.0526 0.1455 0.0492 0.3119 0.2 0.06 0.17 0.04 0.1889 0.22 1 T 0.0 B 0.0 B 0.041 N 1.000 P -1.335 N 4.15 T -0.934 T 0.000 T 0.035 -0.76 0.788 2.11 0.365 0.755 6.532 -0.759997 NA NA 0.216512 0.080345 NA 0.051 NA 7.7301214 887 1 91784887 91784887 G A exonic HFM1 NA synonymous SNV HFM1:NM_001017975:exon24:c.C2643T:p.T881T exonic ENSG00000162669 NA synonymous SNV ENSG00000162669:ENST00000370424:exon20:c.C1680T:p.T560T,ENSG00000162669:ENST00000294696:exon24:c.C339T:p.T113T,ENSG00000162669:ENST00000370425:exon24:c.C2643T:p.T881T NA NA 1p22.2 NA NA NA NA rs10493845 0.25 0.25 0.24 0.236422 0.3072 0.1756 0.2781 0.2481 0.181 0.32 0.14 0.33 0.22 0.2951 0.33 . . . . . . . . 0.977 P . . . . -1.074 T 0.013 T . -1.065 0.178 -10.0 -3.005 -1.031 4.372 -1.065163 NA NA 0.334302 0.26759 ID=COSM146559;OCCURENCE=1(stomach) 0.312 NA 7.7300646 887 9 72897440 72897440 T C exonic SMC5 NA nonsynonymous SNV SMC5:NM_015110:exon7:c.T922C:p.C308R exonic ENSG00000198887 NA nonsynonymous SNV ENSG00000198887:ENST00000361138:exon7:c.T922C:p.C308R NA NA 9q21.12 NA NA NA NA rs1180117 0.22 0.22 0.215 0.246006 0.1928 0.2659 0.1542 0.2655 0.319 0.19 0.26 0.15 0.29 0.2104 0.29 0.57 T 0.0 B 0.0 B 0.279 N 1.000 P -0.805 N 2.38 T -0.917 T 0.000 T 0.062 -1.487 0.018 2.61 0.076 0.328 3.246 -1.486534 NA 1 0.201163 0.243078 NA 0.355 NA 7.7289704 887 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 887 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 887 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=p300,FOXA1_(SC-101058),FOXA1_(C-20),RXRA,TCF4,FOXA2_(SC-6554) 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 888 17 42852604 42852604 G T exonic ADAM11 NA synonymous SNV ADAM11:NM_002390:exon15:c.G1245T:p.S415S exonic ENSG00000073670 NA synonymous SNV ENSG00000073670:ENST00000587773:exon12:c.G927T:p.S309S,ENSG00000073670:ENST00000200557:exon15:c.G1245T:p.S415S,ENSG00000073670:ENST00000535346:exon15:c.G645T:p.S215S Score=644;Name=lod=552 NA 17q21.31 Score=896;Name=V$E2F_02 Name=ZNF263 Name=8 NA rs1558083 0.65 0.65 0.622 0.645567 0.6779 0.7688 0.6945 0.447 0.7188 0.67 0.78 0.67 0.45 0.6412 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 1.627448 1.627448 NA 0.622791 0.497957 NA 0.63 NA 7.7247756 888 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 888 X 153284192 153284192 A G exonic IRAK1 NA nonsynonymous SNV IRAK1:NM_001025242:exon5:c.T587C:p.F196S,IRAK1:NM_001025243:exon5:c.T587C:p.F196S,IRAK1:NM_001569:exon5:c.T587C:p.F196S exonic ENSG00000184216 NA nonsynonymous SNV ENSG00000184216:ENST00000369973:exon4:c.T665C:p.F222S,ENSG00000184216:ENST00000393682:exon4:c.T665C:p.F222S,ENSG00000184216:ENST00000429936:exon4:c.T665C:p.F222S,ENSG00000184216:ENST00000369974:exon5:c.T587C:p.F196S,ENSG00000184216:ENST00000369980:exon5:c.T587C:p.F196S,ENSG00000184216:ENST00000393687:exon5:c.T587C:p.F196S NA NA Xq28 NA NA Name=3 NA rs1059702 0.68 0.68 0.70668 NA NA NA NA NA NA 0.86 0.2 0.65 0.97 0.7504 0.97 0.44 T 0.002 B 0.001 B 0.160 N 1.000 P -2.08 N 1.44 T -0.935 T 0.000 T 0.04 0.756 8.005 3.68 0.235 0.487 6.429 0.756226 NA 0.21 0.859542 0.95515 NA 0.572 NA 7.7233914 888 11 56344260 56344260 A G exonic OR5M10 NA nonsynonymous SNV OR5M10:NM_001004741:exon1:c.T938C:p.I313T exonic ENSG00000254834 NA nonsynonymous SNV ENSG00000254834:ENST00000526812:exon1:c.T938C:p.I313T NA NA 11q12.1 NA NA NA NA rs10896488 0.15 0.15 0.161 0.125799 0.2018 0.1597 0.098 0.0287 0.1636 0.2 0.18 0.13 0.04 0.1893 0.22 0.49 T 0.0 B 0.0 B . . 1.000 P 0 N 3.95 T -0.913 T 0.000 T 0.041 0.348 5.891 -1.86 -0.745 -1.269 5.819 0.348452 NA NA 0.219049 0.066374 NA 0.109 NA 7.7231844 888 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 888 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 888 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 888 3 189713205 189713205 T C exonic LEPREL1 NA synonymous SNV LEPREL1:NM_018192:exon2:c.A507G:p.E169E exonic ENSG00000090530 NA synonymous SNV ENSG00000090530:ENST00000319332:exon2:c.A507G:p.E169E Score=485;Name=lod=125 NA 3q28 NA Name=TCF12,c-Myc,Max Name=60 NA rs9821880 0.34 0.34 0.297 0.320887 0.3002 0.4881 0.3069 0.2035 0.3384 0.31 0.5 0.29 0.23 0.3353 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.158368 NA NA 0.310349 0.213799 NA 0.254 NA 7.7208176 888 21 37617630 37617630 T G exonic DOPEY2 NA nonsynonymous SNV DOPEY2:NM_005128:exon19:c.T3352G:p.C1118G exonic ENSG00000142197 NA nonsynonymous SNV ENSG00000142197:ENST00000399151:exon19:c.T3352G:p.C1118G Score=272;Name=lod=17 NA 21q22.12 NA NA NA NA rs4817788 0.93 0.93 0.928 0.949281 0.8449 0.999 0.9236 0.9909 0.9673 0.85 1 0.93 0.98 0.9057 1 1 T 0.0 B 0.0 B 0.007 N 1.000 P -1.735 N 2.35 T -1.001 T 0.000 T 0.041 -2.105 0.006 2.47 0.059 2.596 4.609 -2.10483 NA NA 0.86314 0.973445 NA 0.855 NA 7.7195934 888 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 888 11 3659993 3659993 G T exonic ART5 NA nonsynonymous SNV ART5:NM_053017:exon4:c.C851A:p.T284K,ART5:NM_001079536:exon5:c.C851A:p.T284K exonic ENSG00000167311 NA nonsynonymous SNV ENSG00000167311:ENST00000397068:exon4:c.C851A:p.T284K,ENSG00000167311:ENST00000359918:exon5:c.C851A:p.T284K NA NA 11p15.4 NA NA NA NA rs2271586 0.31 0.31 0.342 0.299521 0.1948 0.2252 0.1988 0.587 0.1667 0.19 0.26 0.24 0.63 0.2237 0.63 0.94 T 0.0 B 0.0 B 0.168 N 1.000 P -0.895 N 3.1 T -0.939 T 0.000 T 0.089 -1.747 0.01 2.8 0.154 0.781 2.038 -1.747008 NA 0.88 0.197534 0.525216 NA 0.312 NA 7.7172994 888 14 105414629 105414629 G A exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.C7159T:p.P2387S exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.C7159T:p.P2387S NA NA 14q32.33 NA NA NA NA rs72702027 0.51 0.51 0.493 0.531949 0.5328 0.4048 0.5101 0.5673 0.6299 0.53 0.38 0.56 0.6 0.5415 0.61 0.12 T 0.833 P 0.708 P . . 1.000 P 3.155 M 4.0 T -1.006 T 0.000 T 0.092 2.932 15.77 0.756 0.151 0.145 16.357 2.93219 2.93219 0.05 0.54333 0.606462 NA 0.536 NA 7.7157034 888 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 888 10 27389197 27389197 T C exonic ANKRD26 NA nonsynonymous SNV ANKRD26:NM_001256053:exon1:c.A59G:p.Q20R,ANKRD26:NM_014915:exon1:c.A59G:p.Q20R exonic ENSG00000107890 NA nonsynonymous SNV ENSG00000107890:ENST00000376087:exon1:c.A59G:p.Q20R,ENSG00000107890:ENST00000436985:exon1:c.A59G:p.Q20R NA NA 10p12.1 NA Name=CTCF,E2F6_(H-50),CHD2_(N-1250),HA-E2F1,Pol2,TAF1,ZBTB7A_(SC-34508),Egr-1,CCNT2,Pol2(b) Name=148 NA rs7897309 0.93 0.93 0.929 0.944688 0.8628 0.999 0.9337 0.9871 0.9233 0.86 1 0.91 0.97 0.8977 1 1 T 0.0 B 0.0 B . . 1.000 P -0.345 N 1.64 T -0.984 T 0.000 T 0.088 -0.183 3.11 -1.08 -0.616 -1.396 4.550 -0.18295 NA 1 0.857318 0.973384 NA 0.587 NA 7.7155154 889 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 889 8 25364834 25364834 A T exonic CDCA2 NA nonsynonymous SNV CDCA2:NM_152562:exon15:c.A2652T:p.R884S exonic ENSG00000184661 NA nonsynonymous SNV ENSG00000184661:ENST00000380665:exon14:c.A2607T:p.R869S,ENSG00000184661:ENST00000330560:exon15:c.A2652T:p.R884S NA NA 8p21.2 NA NA Name=24 NA rs3829009 0.21 0.21 0.188 0.192492 0.2147 0.2351 0.1931 0.1687 0.1575 0.22 0.24 0.19 0.18 0.2049 0.24 0.95 T 0.015 B 0.014 B 0.180 N 1.000 P 0.69 N 1.57 T -1.025 T 0.000 T 0.075 -0.52 1.627 0.538 -0.118 -0.239 8.425 -0.520011 NA 0.67 0.200698 0.174081 NA 0.101 NA 7.7130354 889 19 14910321 14910321 A G exonic OR7C1 NA nonsynonymous SNV OR7C1:NM_198944:exon1:c.T628C:p.S210P exonic ENSG00000127530 NA nonsynonymous SNV ENSG00000127530:ENST00000248073:exon1:c.T628C:p.S210P NA NA 19p13.12 NA NA NA NA rs16979912 0.22 0.22 0.207 0.243011 0.2177 0.0546 0.2233 0.4569 0.1881 0.23 0.03 0.23 0.43 0.2012 0.43 1 T 0.001 B 0.0 B 0.002 N 1.000 P -1.65 N 1.97 T -0.916 T 0.000 T 0.053 -1.623 0.013 2.59 0.349 -0.747 5.832 -1.623366 NA 1 0.202209 0.401725 NA 0.29 NA 7.7122244 889 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 889 11 5719750 5719750 G C exonic TRIM22 NA nonsynonymous SNV TRIM22:NM_001199573:exon4:c.G713C:p.R238T,TRIM22:NM_006074:exon4:c.G725C:p.R242T exonic ENSG00000132274 NA nonsynonymous SNV ENSG00000132274:ENST00000454828:exon3:c.G629C:p.R210T,ENSG00000132274:ENST00000379965:exon4:c.G725C:p.R242T NA NA 11p15.4 NA Name=Pol2-4H8 NA NA rs1063303 0.39 0.39 0.364 0.426917 0.5398 0.2054 0.4553 0.3722 0.593 0.54 0.16 0.41 0.4 0.5114 0.57 0.06 T 0.009 B 0.016 B . . 1.000 P 1.04 L 3.51 T -0.977 T 0.000 T 0.236 1.345 10.42 -2.15 -0.378 -0.177 8.065 1.345247 1.345247 0.02 0.570017 0.395349 ID=COSM147127;OCCURENCE=1(stomach) 0.609 NA 7.7121164 889 4 88732763 88732763 A G exonic IBSP NA nonsynonymous SNV IBSP:NM_004967:exon7:c.A655G:p.R219G exonic ENSG00000029559 NA nonsynonymous SNV ENSG00000029559:ENST00000226284:exon7:c.A655G:p.R219G NA NA 4q22.1 NA NA NA NA rs17013181 0.27 0.27 0.292 0.259984 0.1928 0.2302 0.2651 0.3979 0.1697 0.19 0.22 0.27 0.43 0.2102 0.43 0.36 T 0.0 B 0.0 B 0.526 N 1.000 P 0.41 N 2.73 T -0.903 T 0.000 T 0.025 0.673 7.604 3.27 0.478 0.404 7.409 0.673451 NA 0.28 0.219767 0.360872 NA 0.399 NA 7.7105664 889 1 36752433 36752433 C T exonic THRAP3 NA nonsynonymous SNV THRAP3:NM_005119:exon4:c.C602T:p.A201V exonic ENSG00000054118 NA nonsynonymous SNV ENSG00000054118:ENST00000354618:exon4:c.C602T:p.A201V,ENSG00000054118:ENST00000469141:exon5:c.C602T:p.A201V Score=462;Name=lod=101 NA 1p34.3 NA NA NA NA rs6425977 0.82 0.82 0.813 0.795527 0.8837 0.9484 0.8602 0.5197 0.8742 0.89 0.96 0.83 0.53 0.8625 0.96 0.15 T 0.103 B 0.058 B 0.132 N 0.263 P 0.345 N 2.54 T -1.020 T 0.000 T 0.074 1.926 12.4 4.79 1.368 0.946 13.973 1.925773 1.925773 0.44 0.877791 0.592828 NA 0.703 NA 7.7093424 889 6 117114025 117114025 G A exonic GPRC6A NA synonymous SNV GPRC6A:NM_148963:exon6:c.C2061T:p.A687A exonic ENSG00000173612 NA synonymous SNV ENSG00000173612:ENST00000368549:exon5:c.C1848T:p.A616A,ENSG00000173612:ENST00000310357:exon6:c.C2061T:p.A687A,ENSG00000173612:ENST00000530250:exon6:c.C1536T:p.A512A Score=473;Name=lod=112 Name=C-reactive protein 6q22.1 Score=765;Name=V$PPARG_01 NA NA NA rs6901250 0.35 0.35 0.33 0.320887 0.3082 0.5228 0.3703 0.1989 0.2556 0.3 0.51 0.38 0.2 0.3196 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.673622 NA NA 0.329767 0.208125 ID=COSM150166;OCCURENCE=1(stomach) 0.283 NA 7.7090996 889 16 31072909 31072909 G A exonic ZNF668 NA nonsynonymous SNV ZNF668:NM_001172668:exon3:c.C1340T:p.A447V,ZNF668:NM_001172670:exon3:c.C1340T:p.A447V,ZNF668:NM_024706:exon3:c.C1340T:p.A447V,ZNF668:NM_001172669:exon4:c.C1409T:p.A470V exonic ENSG00000167394,ENSG00000232748 NA nonsynonymous SNV ENSG00000232748:ENST00000417110:exon1:c.G97A:p.A33T,ENSG00000167394:ENST00000300849:exon3:c.C1340T:p.A447V,ENSG00000167394:ENST00000394983:exon3:c.C1340T:p.A447V,ENSG00000167394:ENST00000535577:exon3:c.C1340T:p.A447V,ENSG00000167394:ENST00000538906:exon3:c.C1340T:p.A447V,ENSG00000167394:ENST00000426488:exon4:c.C1409T:p.A470V,ENSG00000167394:ENST00000539836:exon4:c.C1409T:p.A470V NA NA 16p11.2 NA NA NA NA rs8046978 0.12 0.12 0.106 0.0942492 0.2336 0.003 0.1383 0.0386 0.089 0.23 NA 0.16 0.06 0.1637 0.23 0 D 0.0 B 0.0 B 0.864 N 1.000 P 0 N 3.2 T -0.908 T 0.000 T 0.083 0.638 7.43 -1.8 -0.091 -0.300 4.053 0.638493 NA 0.14 0.227601 0.058622 NA 0.138 NA 7.7084324 889 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 889 14 105410183 105410183 T C exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.A11605G:p.M3869V exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.A11605G:p.M3869V NA NA 14q32.33 NA NA NA NA rs10438246 0.53 0.53 0.543 0.555911 0.5348 0.4127 0.5144 0.643 0.637 0.53 0.39 0.55 0.66 0.5462 0.68 0.62 T 0.0 B 0.0 B . . 1.000 P -1.075 N 5.58 T -1.126 T 0.000 T 0.03 -1.781 0.01 -2.03 -0.909 -3.234 6.355 -1.780679 NA 0.69 0.544886 0.679006 NA 0.587 NA 7.7074474 889 16 4751045 4751045 C T exonic ANKS3 NA nonsynonymous SNV ANKS3:NM_001242929:exon8:c.G889A:p.A297T,ANKS3:NM_133450:exon11:c.G1210A:p.A404T exonic ENSG00000168096 NA nonsynonymous SNV ENSG00000168096:ENST00000450067:exon7:c.G592A:p.A198T,ENSG00000168096:ENST00000586605:exon7:c.G691A:p.A231T,ENSG00000168096:ENST00000592421:exon8:c.G889A:p.A297T,ENSG00000168096:ENST00000446014:exon9:c.G823A:p.A275T,ENSG00000168096:ENST00000585773:exon9:c.G991A:p.A331T,ENSG00000168096:ENST00000304283:exon11:c.G1210A:p.A404T NA NA 16p13.3 NA NA NA NA rs863980 0.56 0.56 0.557 0.51238 0.5398 0.626 0.5216 0.447 0.4489 0.54 0.67 0.52 0.5 0.5336 0.67 1 T 0.025 B 0.004 B 0.793 N 1.000 P 0 N 3.19 T -0.961 T 0.000 T 0.086 -0.405 2.107 -4.46 -1.797 -0.174 3.583 -0.404636 NA 0 0.552558 0.493628 ID=COSM148013;OCCURENCE=1(stomach),1(large_intestine) 0.507 NA 7.7073754 889 10 20534333 20534333 A G exonic PLXDC2 NA nonsynonymous SNV PLXDC2:NM_032812:exon13:c.A1372G:p.I458V exonic ENSG00000120594 NA nonsynonymous SNV ENSG00000120594:ENST00000377242:exon12:c.A1225G:p.I409V,ENSG00000120594:ENST00000377252:exon13:c.A1372G:p.I458V Score=445;Name=lod=86 NA 10p12.31 NA NA NA NA rs2778979 0.79 0.79 0.825 0.782149 0.8857 0.5536 0.6758 0.9304 0.7863 0.88 0.61 0.72 0.93 0.8368 0.93 1 T 0.0 B 0.0 B 0.000 N 0.999 P -0.28 N 2.16 T -0.957 T 0.000 T 0.154 -0.552 1.5 5.0 0.868 2.095 9.817 -0.5523 NA 1 0.90407 0.919882 NA 0.833 NA 7.7067634 889 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 889 1 241755348 241755348 C T exonic KMO NA nonsynonymous SNV KMO:NM_003679:exon15:c.C1354T:p.R452C exonic ENSG00000117009 NA nonsynonymous SNV ENSG00000117009:ENST00000366557:exon14:c.C1252T:p.R418C,ENSG00000117009:ENST00000366558:exon15:c.C1315T:p.R439C,ENSG00000117009:ENST00000366559:exon15:c.C1354T:p.R452C NA NA 1q43 NA NA Name=2 NA rs1053230 0.12 0.12 0.114 0.116214 0.2237 0.0526 0.1282 0.0091 0.2076 0.23 0.06 0.15 0.01 0.1768 0.23 0.18 T 0.0 B 0.0 B 0.116 N 1.000 P 1.87 L 0.95 T -1.055 T 0.000 T 0.368 0.073 4.393 0.337 0.139 0.265 7.322 0.072607 NA 0.18 0.226163 0.043577 ID=COSM1179740;OCCURENCE=1(prostate) 0.138 NA 7.7066704 889 5 142421415 142421415 T G exonic ARHGAP26 NA synonymous SNV ARHGAP26:NM_001135608:exon14:c.T1245G:p.G415G,ARHGAP26:NM_015071:exon14:c.T1245G:p.G415G exonic ENSG00000145819 NA synonymous SNV ENSG00000145819:ENST00000274498:exon14:c.T1245G:p.G415G,ENSG00000145819:ENST00000378004:exon14:c.T1245G:p.G415G Score=561;Name=lod=254 NA 5q31.3 Score=775;Name=V$TAXCREB_01 NA NA NA rs2270068 0.86 0.86 0.861 0.888179 1 0.505 0.9352 1 0.9836 1 0.51 0.97 1 0.9619 1 . . . . . . . . 0.000 P . . . . -1.010 T 0.000 T . 1.547 11.13 4.33 1.643 0.596 10.211 1.546878 1.546878 NA 0.998488 0.997957 NA 0.92 NA 7.7062786 889 2 223436607 223436607 C T exonic FARSB NA nonsynonymous SNV FARSB:NM_005687:exon17:c.G1753A:p.V585I exonic ENSG00000116120 NA nonsynonymous SNV ENSG00000116120:ENST00000281828:exon17:c.G1753A:p.V585I,ENSG00000116120:ENST00000536361:exon18:c.G1456A:p.V486I Score=607;Name=lod=392 NA 2q36.1 NA NA NA NA rs7185 0.86 0.86 0.839 0.836062 0.8767 0.9712 0.8602 0.621 0.9284 0.89 0.98 0.86 0.67 0.8819 0.98 0.86 T 0.0 B 0.001 B 0.000 N 1.000 P -0.725 N . . -0.961 T 0.000 T 0.106 -0.438 1.966 4.33 0.984 0.746 9.401 -0.43774 NA 1 0.868488 0.683613 NA 0.862 NA 7.7062454 889 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 889 11 72946279 72946279 T C exonic P2RY2 NA nonsynonymous SNV P2RY2:NM_002564:exon3:c.T1075C:p.S359P,P2RY2:NM_176071:exon3:c.T1075C:p.S359P,P2RY2:NM_176072:exon3:c.T1075C:p.S359P exonic ENSG00000175591 NA nonsynonymous SNV ENSG00000175591:ENST00000311131:exon3:c.T1075C:p.S359P,ENSG00000175591:ENST00000393596:exon3:c.T1075C:p.S359P,ENSG00000175591:ENST00000393597:exon3:c.T1075C:p.S359P NA NA 11q13.4 NA NA NA NA rs74472890 0.02 0.02 0.015 0.0213658 0.0467 0.002 0.0231 0.0023 0.0399 0.04 0.0017 0.02 0.002 0.0371 0.044 0.12 T 0.567 P 0.166 B 0.330 N 1.000 N 0 N -0.78 T -0.972 T 0.053 T 0.3 1.968 12.54 -0.188 -0.040 0.514 7.156 1.967865 1.967865 0.01 0.044131 0.011484 NA 0.014 NA 7.7054024 890 16 66948130 66948130 G A exonic CDH16 NA nonsynonymous SNV CDH16:NM_001204746:exon6:c.C478T:p.H160Y,CDH16:NM_001204744:exon7:c.C769T:p.H257Y,CDH16:NM_001204745:exon7:c.C769T:p.H257Y,CDH16:NM_004062:exon7:c.C769T:p.H257Y exonic ENSG00000166589 NA nonsynonymous SNV ENSG00000166589:ENST00000567009:exon4:c.C607T:p.H203Y,ENSG00000166589:ENST00000570262:exon5:c.C529T:p.H177Y,ENSG00000166589:ENST00000568632:exon6:c.C478T:p.H160Y,ENSG00000166589:ENST00000299752:exon7:c.C769T:p.H257Y,ENSG00000166589:ENST00000394055:exon7:c.C769T:p.H257Y,ENSG00000166589:ENST00000565796:exon7:c.C769T:p.H257Y NA NA 16q22.1 NA NA NA NA rs2271023 0.08 0.08 0.07 0.0738818 0.0398 0.2014 0.072 0.0234 0.047 0.04 0.18 0.06 0.03 0.0588 0.18 1 T 0.478 P 0.134 B 0.472 N 1.000 P 0.755 N 0.5 T -1.068 T 0.000 T 0.287 0.335 5.817 1.03 0.478 0.653 3.008 0.335088 NA 0.04 0.029884 0.029545 NA 0.043 NA 7.7048494 890 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 890 5 115341638 115341638 G C exonic AQPEP NA nonsynonymous SNV AQPEP:NM_173800:exon13:c.G2067C:p.L689F exonic ENSG00000172901 NA nonsynonymous SNV ENSG00000172901:ENST00000514509:exon8:c.G618C:p.L206F,ENSG00000172901:ENST00000357872:exon13:c.G2067C:p.L689F,ENSG00000172901:ENST00000395528:exon13:c.G618C:p.L206F,ENSG00000172901:ENST00000504467:exon13:c.G2067C:p.L689F NA NA 5q23.1 NA NA NA NA rs10078759 0.8 0.8 0.754 NA NA NA NA NA NA 0.81 0.77 0.81 0.82 0.8044 0.83 0.16 T 0.413 B 0.148 B 0.058 N 0.984 P 2.035 M 3.04 T -1.111 T 0.000 T 0.447 2.355 13.83 2.97 0.898 0.924 7.875 2.354623 2.354623 0.01 0.826239 0.799182 ID=COSM1567551;OCCURENCE=1(large_intestine) 0.775 NA 7.7026944 890 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 890 14 59797235 59797235 A G exonic DAAM1 NA synonymous SNV DAAM1:NM_014992:exon12:c.A1389G:p.Q463Q,DAAM1:NM_001270520:exon13:c.A1389G:p.Q463Q exonic ENSG00000100592 NA synonymous SNV ENSG00000100592:ENST00000395125:exon12:c.A1389G:p.Q463Q,ENSG00000100592:ENST00000351081:exon13:c.A1389G:p.Q463Q,ENSG00000100592:ENST00000360909:exon13:c.A1389G:p.Q463Q Score=555;Name=lod=240 NA 14q23.1 Score=715;Name=V$PPARG_02 Name=CTCF,SMC3_(ab9263) Name=23 NA rs941884 0.66 0.66 0.663 0.655751 0.661 0.8383 0.6398 0.5166 0.6616 0.64 0.83 0.65 0.51 0.6569 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.892628 NA NA 0.646512 0.535633 NA 0.529 NA 7.7022546 890 10 135204950 135204950 C G exonic PAOX NA nonsynonymous SNV PAOX:NM_207128:exon6:c.C1369G:p.Q457E exonic ENSG00000148832 NA nonsynonymous SNV ENSG00000148832:ENST00000357296:exon6:c.C1369G:p.Q457E NA NA 10q26.3 Score=766;Name=V$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 890 12 121437221 121437221 T C intronic HNF1A NA NA NA exonic ENSG00000135100 NA nonsynonymous SNV ENSG00000135100:ENST00000541395:exon8:c.T1652C:p.L551S NA NA 12q24.31 NA Name=Pol2 NA NA rs1169304 0.8 0.8 0.764 0.776957 0.834 0.8542 0.9179 0.5401 0.8589 0.83 0.87 0.91 0.59 0.8145 0.91 . . . . . . . . 1.000 P . . -5.3 D -0.976 T 0.000 T 0.05 2.063 12.85 -10.8 -2.680 -3.799 7.644 2.062621 2.062621 NA 0.817442 0.600318 NA 0.79 NA 7.7007247 890 8 68864728 68864728 G A exonic PREX2 NA synonymous SNV PREX2:NM_024870:exon1:c.G99A:p.K33K,PREX2:NM_025170:exon1:c.G99A:p.K33K exonic ENSG00000046889 NA synonymous SNV ENSG00000046889:ENST00000288368:exon1:c.G99A:p.K33K Score=662;Name=lod=653 NA 8q13.2 Score=851;Name=V$MRF2_01 NA Name=42 NA rs61753697 0.31 0.31 0.266 0.313299 0.3062 0.5228 0.366 0.0499 0.4233 0.31 0.52 0.37 0.03 0.3599 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.63972 1.63972 NA 0.300698 0.093097 ID=COSM454779,COSM454778;OCCURENCE=1(breast) 0.319 NA 7.6998686 890 15 62202482 62202482 C T exonic VPS13C NA nonsynonymous SNV VPS13C:NM_017684:exon62:c.G8609A:p.S2870N,VPS13C:NM_018080:exon62:c.G8609A:p.S2870N,VPS13C:NM_001018088:exon64:c.G8738A:p.S2913N,VPS13C:NM_020821:exon64:c.G8738A:p.S2913N exonic ENSG00000129003 NA nonsynonymous SNV ENSG00000129003:ENST00000249837:exon62:c.G8609A:p.S2870N,ENSG00000129003:ENST00000395898:exon62:c.G8609A:p.S2870N,ENSG00000129003:ENST00000261517:exon64:c.G8738A:p.S2913N,ENSG00000129003:ENST00000395896:exon64:c.G8738A:p.S2913N Score=566;Name=lod=265 NA 15q22.2 NA NA NA NA rs10851704 0.54 0.54 0.512 0.516374 0.5517 0.4732 0.6671 0.4841 0.4611 0.56 0.49 0.64 0.49 0.5472 0.64 1 T 0.0 B 0.001 B 0.000 N 1.000 P -0.775 N 1.65 T -0.914 T 0.000 T 0.005 0.068 4.368 3.54 0.133 0.853 9.591 0.06792 NA 1 0.535233 0.498865 NA 0.101 NA 7.6992004 890 12 120637199 120637199 G A exonic RPLP0 NA synonymous SNV RPLP0:NM_001002:exon3:c.C144T:p.R48R,RPLP0:NM_053275:exon3:c.C144T:p.R48R exonic ENSG00000089157 NA nonsynonymous SNV ENSG00000089157:ENST00000549098:exon3:c.C155T:p.A52V NA NA 12q24.23 Score=871;Name=V$IK1_01 Name=Pol2(b),CTCF_(SC-5916),Pol2-4H8,Pol2 NA NA rs1045110 0.07 0.07 0.038 0.057508 0.1064 NA 0.1931 0.0045 0.0419 0.11 NA 0.19 0.01 0.0912 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 1.479682 1.479682 NA 0.104186 0.023831 NA 0.116 NA 7.698214 890 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$ISRE_01 NA NA NA rs10088378 0.6 0.6 0.617 0.603035 0.67 0.3383 0.6527 0.7027 0.637 0.66 0.36 0.68 0.73 0.6319 0.73 . . . . . . . . 0.000 P . . . . -0.967 T 0.000 T . -0.461 1.869 2.4 0.218 0.210 14.232 -0.460746 NA NA 0.667638 0.676532 NA 0.522 NA 7.6971286 890 14 78140355 78140355 T A exonic ALKBH1 NA nonsynonymous SNV ALKBH1:NM_006020:exon6:c.A970T:p.M324L exonic ENSG00000100601 NA nonsynonymous SNV ENSG00000100601:ENST00000216489:exon6:c.A970T:p.M324L Score=525;Name=lod=181 NA 14q24.3 NA NA NA NA rs6494 0.14 0.14 0.139 0.11861 0.2425 0.0456 0.1153 0.0613 0.1462 0.25 0.06 0.13 0.08 0.176 0.25 0.32 T 0.0 B 0.0 B 0.907 N 1.000 P -0.55 N 1.64 T -0.952 T 0.000 T 0.013 1.632 11.42 -0.831 -0.103 0.058 1.363 1.632379 1.632379 0.3 0.217791 0.091466 NA 0.203 NA 7.6970424 890 3 112647832 112647832 A C exonic CD200R1 NA nonsynonymous SNV CD200R1:NM_170780:exon4:c.T531G:p.H177Q,CD200R1:NM_138806:exon5:c.T600G:p.H200Q exonic ENSG00000163606 NA nonsynonymous SNV ENSG00000163606:ENST00000295863:exon3:c.T465G:p.H155Q,ENSG00000163606:ENST00000471858:exon4:c.T531G:p.H177Q,ENSG00000163606:ENST00000308611:exon5:c.T600G:p.H200Q Score=361;Name=lod=39 NA 3q13.2 NA NA NA NA rs9826308 0.63 0.63 0.64 0.651558 0.5328 0.7024 0.6066 0.7216 0.6585 0.54 0.7 0.61 0.7 0.5713 0.7 1 T . . . . 0.291 N 0.000 P . . -0.79 T -0.944 T 0.000 T 0.008 -1.32 0.033 3.59 0.241 0.343 9.990 -1.319975 NA 1 0.532674 0.683613 NA 0.536 NA 7.6965594 890 X 74494470 74494470 T G exonic UPRT NA synonymous SNV UPRT:NM_145052:exon1:c.T381G:p.R127R exonic ENSG00000094841 NA synonymous SNV ENSG00000094841:ENST00000373373:exon1:c.T381G:p.R127R,ENSG00000094841:ENST00000373379:exon1:c.T381G:p.R127R,ENSG00000094841:ENST00000373383:exon1:c.T381G:p.R127R,ENSG00000094841:ENST00000462237:exon1:c.T381G:p.R127R Score=524;Name=lod=180 NA Xq13.3 Score=829;Name=V$PAX2_01 Name=PU.1,ELF1_(SC-631),TAF1 Name=137 NA rs4892396 0.93 0.93 0.92528 NA NA NA NA NA NA 1 1 0.96 0.73 0.9726 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.745711 1.745711 NA 0.998956 0.73904 NA 0.703 NA 7.6951106 890 21 45152500 45152500 G A intronic PDXK NA NA NA exonic ENSG00000160209 NA nonsynonymous SNV ENSG00000160209:ENST00000327574:exon2:c.G242A:p.R81H NA NA 21q22.3 NA NA Name=57 NA rs2276528 0.23 0.23 0.226 0.238818 0.1511 0.4315 0.2968 0.1331 0.2321 0.16 0.43 0.23 0.13 0.1851 0.43 . . 0.057 B 0.003 B . . 1.000 P . . . . -0.904 T 0.000 T 0.073 0.933 8.803 -1.22 -0.318 -2.771 6.308 0.933294 NA NA 0.135359 0.130137 NA 0.138 NA 7.6951077 891 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$LYF1_01 NA NA NA rs10929757 0.42 0.42 0.372 0.415735 0.5427 0.5496 0.5144 0.0333 0.5941 0.57 0.52 0.47 0.06 0.5328 0.57 0.31 T 0.003 B 0.009 B 0.003 N 1.000 P 1.355 L 3.33 T -0.952 T 0.000 T 0.101 0.475 6.58 1.6 0.037 2.998 1.527 0.475366 NA 0.34 0.563372 0.13232 NA 0.471 NA 7.6944614 891 4 187077206 187077206 A G exonic FAM149A NA nonsynonymous SNV FAM149A:NM_001006655:exon6:c.A436G:p.K146E,FAM149A:NM_015398:exon7:c.A436G:p.K146E exonic ENSG00000109794 NA nonsynonymous SNV ENSG00000109794:ENST00000389354:exon6:c.A436G:p.K146E,ENSG00000109794:ENST00000502970:exon6:c.A436G:p.K146E,ENSG00000109794:ENST00000227065:exon7:c.A436G:p.K146E,ENSG00000109794:ENST00000356371:exon7:c.A1309G:p.K437E,ENSG00000109794:ENST00000503432:exon7:c.A436G:p.K146E,ENSG00000109794:ENST00000514153:exon7:c.A436G:p.K146E NA NA 4q35.1 NA NA NA NA rs4862653 0.88 0.88 0.886 0.886781 0.8936 0.8204 0.8631 0.9531 0.8753 0.9 0.82 0.86 0.95 0.8668 0.95 0.17 T 0.061 B 0.025 B 0.004 N 1.000 P 2.125 M 2.28 T -1.057 T 0.000 T 0.178 1.762 11.85 3.0 0.159 2.572 9.404 1.762264 1.762264 0.1 0.878605 0.942805 NA 0.826 NA 7.6943284 891 2 162929979 162929979 A G exonic DPP4 NA synonymous SNV DPP4:NM_001935:exon2:c.T24C:p.L8L exonic ENSG00000197635 NA synonymous SNV ENSG00000197635:ENST00000360534:exon2:c.T24C:p.L8L,ENSG00000197635:ENST00000413651:exon2:c.T24C:p.L8L,ENSG00000197635:ENST00000434918:exon2:c.T24C:p.L8L Score=426;Name=lod=72 NA 2q24.2 Score=764;Name=V$STAT5A_02 NA Name=94 NA rs17574 0.21 0.21 0.208 0.21266 0.3459 0.0466 0.1744 0.211 0.2761 0.33 0.05 0.2 0.19 0.2801 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.197094 3.197094 NA 0.346395 0.235361 NA 0.268 NA 7.6942716 891 3 148562310 148562310 G A exonic CPB1 NA nonsynonymous SNV CPB1:NM_001871:exon7:c.G622A:p.D208N exonic ENSG00000153002 NA nonsynonymous SNV ENSG00000153002:ENST00000468341:exon6:c.G520A:p.D174N,ENSG00000153002:ENST00000282957:exon7:c.G622A:p.D208N,ENSG00000153002:ENST00000491148:exon8:c.G622A:p.D208N NA NA 3q24 NA NA NA NA rs1059502 0.24 0.24 0.263 0.270168 0.2048 0.2956 0.1412 0.3495 0.2955 0.21 0.24 0.14 0.34 0.229 0.34 0.82 T 0.005 B 0.01 B 0.276 N 1.000 P 0.71 N 1.45 T -0.944 T 0.000 T 0.103 -1.761 0.01 -2.76 -0.671 -0.672 10.213 -1.761315 NA 0.7 0.205698 0.308216 NA 0.377 NA 7.6938354 891 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 891 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 891 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 891 19 14629150 14629150 G A exonic DNAJB1 NA synonymous SNV DNAJB1:NM_006145:exon1:c.C12T:p.D4D exonic ENSG00000132002 NA synonymous SNV ENSG00000132002:ENST00000254322:exon1:c.C12T:p.D4D Score=710;Name=lod=1021 NA 19p13.12 NA Name=NELFe,ETS1,HEY1,Pol2-4H8,NFKB,TAF1,GTF2B,POU2F2,TAF7_(SQ-8),TCF12,Pol2(phosphoS2),Pol2,GTF2F1_(RAP-74),ZBTB7A_(SC-34508),YY1,AP-2gamma,TBP,CCNT2,Pol2(b),NRSF,HSF1,Sin3Ak-20,TAL1_(SC-12984),Oct-2,YY1_(C-20),ZBTB33,TCF4 Name=148 NA rs3962158 0.28 0.28 0.26 0.342851 0.3211 0.1071 0.3343 0.4493 0.4703 0.33 0.09 0.32 0.4 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 2.075587 2.075587 NA 0.309241 0.401684 NA 0.239 NA 7.6917256 891 11 55340379 55340379 T C exonic OR4C16 NA nonsynonymous SNV OR4C16:NM_001004701:exon1:c.T776C:p.L259P exonic ENSG00000181935 NA nonsynonymous SNV ENSG00000181935:ENST00000314634:exon1:c.T776C:p.L259P NA NA 11q11 NA NA NA NA rs559449 0.5 0.5 0.49 0.478834 0.5547 0.5446 0.5951 0.3275 0.455 0.56 0.54 0.6 0.27 0.5375 0.6 1 T 0.0 B 0.0 B 0.000 N 0.812 P -3.15 N 9.17 T -1.012 T 0.000 T 0.118 -1.952 0.007 4.68 1.222 0.668 10.856 -1.951729 NA 1 0.549465 0.348932 NA 0.478 NA 7.6916684 891 3 39226127 39226127 C T exonic XIRP1 NA nonsynonymous SNV XIRP1:NM_194293:exon2:c.G4810A:p.G1604R exonic ENSG00000168334 NA nonsynonymous SNV ENSG00000168334:ENST00000340369:exon2:c.G4810A:p.G1604R,ENSG00000168334:ENST00000421646:exon2:c.G859A:p.G287R NA NA 3p22.2 NA Name=CTCF NA NA rs3732383 0.14 0.14 0.13 0.130791 0.2207 0.1419 0.1354 0.0121 0.184 0.23 0.14 0.14 0.02 0.1975 0.23 0.58 T 0.003 B 0.001 B 0.160 N 1.000 P -0.395 N 4.1 T -0.966 T 0.000 T 0.038 -2.224 0.005 0.238 0.174 -0.118 6.942 -2.224347 NA 0.85 0.224535 0.047208 NA 0.13 NA 7.6905984 891 1 34663411 34663411 C G exonic C1orf94 NA nonsynonymous SNV C1orf94:NM_001134734:exon2:c.C906G:p.D302E,C1orf94:NM_032884:exon2:c.C336G:p.D112E exonic ENSG00000142698 NA nonsynonymous SNV ENSG00000142698:ENST00000373374:exon2:c.C336G:p.D112E,ENSG00000142698:ENST00000488417:exon2:c.C906G:p.D302E Score=487;Name=lod=127 NA 1p34.3 NA NA NA NA rs1414474 0.16 0.16 0.155 0.166933 0.2048 0.0863 0.2233 0.1369 0.2117 0.19 0.08 0.22 0.15 0.2021 0.24 0.19 T 0.008 B 0.007 B 0.822 N 0.999 P 1.245 L 1.75 T -0.995 T 0.000 T 0.065 0.853 8.449 1.31 0.486 -0.116 6.549 0.85255 NA 0.33 0.23593 0.168407 NA 0.101 NA 7.6905034 891 17 8046772 8046772 C G exonic PER1 NA nonsynonymous SNV PER1:NM_002616:exon19:c.G2884C:p.A962P exonic ENSG00000179094 NA nonsynonymous SNV ENSG00000179094:ENST00000581082:exon18:c.G2815C:p.A939P,ENSG00000179094:ENST00000317276:exon19:c.G2884C:p.A962P NA NA 17p13.1 NA Name=Pol2 NA NA rs2585405 0.77 0.77 0.745 0.771765 0.8917 0.5337 0.8357 0.7549 0.8712 0.91 0.57 0.84 0.74 0.8544 0.91 0.52 T 0.0 B 0.0 B 0.082 N 1.000 P -0.205 N 2.59 T -1.042 T 0.000 T 0.084 -1.546 0.015 3.22 0.658 1.592 12.935 -1.546402 NA 0.38 0.89686 0.785649 NA 0.384 NA 7.6903734 891 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 891 17 41116234 41116234 G A exonic AARSD1,PTGES3L-AARSD1 NA synonymous SNV AARSD1:NM_001261434:exon2:c.C60T:p.S20S,PTGES3L-AARSD1:NM_001136042:exon7:c.C582T:p.S194S,PTGES3L-AARSD1:NM_025267:exon7:c.C399T:p.S133S exonic ENSG00000108825,ENSG00000266967 NA synonymous SNV ENSG00000266967:ENST00000427569:exon2:c.C60T:p.S20S,ENSG00000266967:ENST00000436545:exon2:c.C60T:p.S20S,ENSG00000108825:ENST00000409103:exon6:c.C309T:p.S103S,ENSG00000108825:ENST00000360221:exon7:c.C399T:p.S133S,ENSG00000108825:ENST00000421990:exon7:c.C582T:p.S194S,ENSG00000108825:ENST00000409399:exon8:c.C582T:p.S194S Score=457;Name=lod=96 NA 17q21.31 Score=777;Name=V$E2F_01 Name=TAF1,HA-E2F1,Pol2 NA NA rs690941 0.95 0.95 0.938 0.929513 1 1 0.9784 0.7443 1 1 1 0.98 0.8 0.9794 1 . . . . . . . . . . . . . . -1.002 T 0.000 T . 0.871 8.533 2.37 0.678 0.666 6.871 0.871445 NA NA 0.999186 0.7803 NA 0.928 NA 7.6880806 891 10 70645376 70645376 A C exonic STOX1 NA nonsynonymous SNV STOX1:NM_001130161:exon3:c.A1824C:p.E608D,STOX1:NM_001130162:exon3:c.A1494C:p.E498D,STOX1:NM_152709:exon3:c.A1824C:p.E608D exonic ENSG00000165730 NA nonsynonymous SNV ENSG00000165730:ENST00000298596:exon3:c.A1824C:p.E608D,ENSG00000165730:ENST00000399169:exon3:c.A1824C:p.E608D,ENSG00000165730:ENST00000421961:exon3:c.A1494C:p.E498D NA NA 10q22.1 NA NA NA NA rs10509305 0.14 0.14 0.129 0.144169 0.2187 0.0804 0.2161 0.0318 0.2342 0.21 0.1 0.24 0.03 0.2122 0.24 0.73 T 0.0 B 0.0 B 0.862 N 1.000 P -1.95 N -0.49 T -1.085 T 0.000 T 0.03 -2.847 0 1.14 -0.040 -0.860 0.041 -2.84719 NA 0.64 0.214959 0.05829 NA 0.145 CLINSIG=pathogenic;CLNDBN=Preeclampsia/eclampsia_4;CLNREVSTAT=single;CLNACC=RCV000001790.1;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C1836255:609404:ORPHA275555 7.6874744 891 2 171260787 171260787 G A exonic MYO3B NA nonsynonymous SNV MYO3B:NM_001083615:exon20:c.G2308A:p.V770I,MYO3B:NM_138995:exon20:c.G2308A:p.V770I exonic ENSG00000071909 NA nonsynonymous SNV ENSG00000071909:ENST00000317935:exon20:c.G2308A:p.V770I,ENSG00000071909:ENST00000334231:exon20:c.G2335A:p.V779I,ENSG00000071909:ENST00000408978:exon20:c.G2308A:p.V770I,ENSG00000071909:ENST00000409044:exon20:c.G2308A:p.V770I,ENSG00000071909:ENST00000484338:exon20:c.G2335A:p.V779I NA NA 2q31.1 NA NA NA NA rs6736609 0.79 0.79 0.779 0.780152 0.8966 0.7292 0.889 0.6846 0.7648 0.9 0.71 0.89 0.64 0.8507 0.9 0.2 T 0.0 B 0.003 B 0.230 N 1.000 P 0.77 N -2.21 D -0.982 T 0.000 T 0.212 0.265 5.434 -7.46 -1.626 -0.022 14.019 0.265211 NA 0.2 0.899903 0.725378 NA 0.804 NA 7.6861304 891 20 25193949 25193949 G A exonic ENTPD6 NA synonymous SNV ENTPD6:NM_001114089:exon4:c.G453A:p.P151P,ENTPD6:NM_001247:exon5:c.G504A:p.P168P exonic ENSG00000197586 NA synonymous SNV ENSG00000197586:ENST00000354989:exon4:c.G453A:p.P151P,ENSG00000197586:ENST00000439162:exon4:c.G450A:p.P150P,ENSG00000197586:ENST00000360031:exon5:c.G501A:p.P167P,ENSG00000197586:ENST00000376652:exon5:c.G504A:p.P168P,ENSG00000197586:ENST00000433259:exon5:c.G504A:p.P168P,ENSG00000197586:ENST00000435520:exon7:c.G501A:p.P167P NA NA 20p11.21 NA NA NA NA rs2076561 0.35 0.35 0.331 0.310104 0.3459 0.5913 0.2262 0.0983 0.3292 0.34 0.6 0.25 0.12 0.3135 0.6 . . . . . . . . 0.000 P . . . . -1.010 T 0.000 T . -0.885 0.47 -11.6 -3.712 -2.000 1.958 -0.885057 NA NA 0.321512 0.14049 NA 0.326 NA 7.6857546 891 22 25144912 25144912 C T exonic PIWIL3 NA nonsynonymous SNV PIWIL3:NM_001008496:exon12:c.G1411A:p.V471I,PIWIL3:NM_001255975:exon12:c.G1411A:p.V471I exonic ENSG00000184571 NA nonsynonymous SNV ENSG00000184571:ENST00000332271:exon12:c.G1411A:p.V471I,ENSG00000184571:ENST00000527701:exon13:c.G1084A:p.V362I,ENSG00000184571:ENST00000533313:exon13:c.G1084A:p.V362I NA NA 22q11.23 NA NA NA NA rs11703684 0.2 0.2 0.16 0.202676 0.2097 0.1478 0.3804 0.1339 0.2188 0.2 0.16 0.38 0.13 0.2243 0.38 0.42 T 0.105 B 0.083 B 0.119 N 1.000 P 0.69 N 3.69 T -0.925 T 0.000 T 0.018 -0.067 3.672 -3.89 -0.807 0.004 4.288 -0.067331 NA 0.88 0.213605 0.147072 NA 0.159 NA 7.6857284 891 3 13407556 13407556 T C exonic NUP210 NA nonsynonymous SNV NUP210:NM_024923:exon14:c.A1822G:p.I608V exonic ENSG00000132182 NA nonsynonymous SNV ENSG00000132182:ENST00000254508:exon14:c.A1822G:p.I608V NA NA 3p25.1 NA NA NA NA rs3732671 0.57 0.57 0.607 0.578674 0.5447 0.4107 0.4467 0.9024 0.4427 0.53 0.43 0.48 0.88 0.5394 0.88 1 T 0.0 B 0.001 B 0.000 N 1.000 P -0.915 N 3.56 T -1.008 T 0.000 T 0.101 -2.036 0.006 3.17 0.134 2.684 7.952 -2.035635 NA 1 0.563837 0.83636 NA 0.717 NA 7.6853964 891 19 17662616 17662616 G A exonic FAM129C NA nonsynonymous SNV FAM129C:NM_001098524:exon16:c.G1865A:p.R622Q exonic ENSG00000167483 NA nonsynonymous SNV ENSG00000167483:ENST00000599124:exon14:c.G1664A:p.R555Q,ENSG00000167483:ENST00000600871:exon14:c.G1619A:p.R540Q,ENSG00000167483:ENST00000352727:exon15:c.G1757A:p.R586Q,ENSG00000167483:ENST00000599164:exon15:c.G1772A:p.R591Q,ENSG00000167483:ENST00000332386:exon16:c.G1865A:p.R622Q NA NA 19p13.11 NA NA NA NA rs76629753 0.05 0.05 0.041 0.0615016 0.0417 0.0317 0.0418 0.0885 0.09 0.04 0.03 0.05 0.07 0.0531 0.07 0.03 D 0.864 P 0.151 B . . 1.000 N 0 N 2.14 T -1.034 T 0.002 T 0.033 -0.006 3.985 0.649 0.598 0.342 . -0.005567 NA 0.1 0.053515 0.068873 NA 0.029 NA 7.6850184 892 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 892 19 44471323 44471323 G A exonic ZNF221 NA nonsynonymous SNV ZNF221:NM_013359:exon6:c.G1669A:p.G557R exonic ENSG00000159905 NA nonsynonymous SNV ENSG00000159905:ENST00000587682:exon5:c.G1669A:p.G557R,ENSG00000159905:ENST00000251269:exon6:c.G1669A:p.G557R,ENSG00000159905:ENST00000592350:exon6:c.G1669A:p.G557R Score=300;Name=lod=22 NA 19q13.31 NA NA NA NA rs366111 0.85 0.85 0.853 0.85024 0.8827 0.8611 0.8905 0.7965 0.8497 0.88 0.85 0.87 0.78 0.878 0.89 0.03 D 0.0 B 0.0 B . . 1.000 P -0.185 N 2.29 T -1.073 T 0.000 T 0.014 3.101 16.36 1.59 0.295 2.195 5.150 3.100853 3.100853 0.08 0.888721 0.799138 NA 0.797 NA 7.6839124 892 12 123200768 123200768 T G exonic HCAR3 NA nonsynonymous SNV HCAR3:NM_006018:exon1:c.A517C:p.T173P exonic ENSG00000255398 NA nonsynonymous SNV ENSG00000255398:ENST00000528880:exon1:c.A517C:p.T173P NA NA 12q24.31 NA NA NA NA rs1798192 0.52 0.52 0.526 0.464058 0.5716 0.495 0.4409 0.5008 0.2883 0.55 0.53 0.47 0.51 0.5063 0.57 0.09 T 0.001 B 0.005 B . . 1.000 P . . 1.22 T -0.922 T 0.000 T 0.017 -0.841 0.572 -4.69 -1.206 -0.594 5.731 -0.840675 NA NA 0.572209 0.506355 ID=COSM147629;OCCURENCE=1(stomach) 0.58 NA 7.6832244 892 19 55644325 55644325 A C exonic TNNT1 NA synonymous SNV TNNT1:NM_001126133:exon13:c.T714G:p.R238R,TNNT1:NM_001126132:exon14:c.T747G:p.R249R,TNNT1:NM_003283:exon14:c.T795G:p.R265R exonic ENSG00000105048 NA synonymous SNV ENSG00000105048:ENST00000585321:exon10:c.T537G:p.R179R,ENSG00000105048:ENST00000588426:exon10:c.T438G:p.R146R,ENSG00000105048:ENST00000587465:exon11:c.T537G:p.R179R,ENSG00000105048:ENST00000356783:exon13:c.T714G:p.R238R,ENSG00000105048:ENST00000536926:exon13:c.T714G:p.R238R,ENSG00000105048:ENST00000291901:exon14:c.T747G:p.R249R,ENSG00000105048:ENST00000587758:exon14:c.T714G:p.R238R,ENSG00000105048:ENST00000588981:exon14:c.T795G:p.R265R Score=467;Name=lod=105 NA 19q13.42 Score=705;Name=V$LUN1_01 Name=CTCF,CTCF_(C-20),Rad21 Name=21 NA rs890868 0.97 0.97 0.971 0.980431 0.995 0.9306 0.9669 1 1 0.99 0.92 0.97 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 1.209938 NA NA 0.999767 1 NA 1 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000024552.1;CLNDSDB=.;CLNDSDBID=. 7.6826996 892 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=c-Jun,USF2,JunD,Max,STAT3 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 892 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 892 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 892 11 123753937 123753937 A G exonic TMEM225 NA nonsynonymous SNV TMEM225:NM_001013743:exon4:c.T586C:p.C196R exonic ENSG00000204300 NA nonsynonymous SNV ENSG00000204300:ENST00000375026:exon4:c.T586C:p.C196R,ENSG00000204300:ENST00000528595:exon4:c.T436C:p.C146R NA NA 11q24.1 NA NA NA NA rs1939927 0.9 0.9 0.908 0.915335 0.8847 0.8353 0.9193 0.9962 0.9172 0.88 0.82 0.93 1 0.8951 1 0.52 T 0.0 B 0.0 B 0.013 N 1.000 P -0.805 N 1.73 T -0.986 T 0.000 T 0.335 -0.844 0.564 -5.05 -1.531 -2.351 0.249 -0.844094 NA 0.65 0.875204 0.977066 NA 0.891 NA 7.6783294 892 2 220402680 220402680 T C exonic ASIC4 NA nonsynonymous SNV ASIC4:NM_182847:exon9:c.T1856C:p.V619A exonic ENSG00000072182 NA nonsynonymous SNV ENSG00000072182:ENST00000347842:exon9:c.T1856C:p.V619A,ENSG00000072182:ENST00000358078:exon10:c.T1913C:p.V638A NA NA 2q35 NA Name=Rad21,CTCF NA NA rs11695248 0.57 0.57 0.587 0.611821 0.5447 0.6706 0.4697 0.5696 0.7781 0.54 0.67 0.53 0.55 0.5797 0.7 1 T 0.0 B 0.0 B 0.260 N 1.000 P 0 N 0.16 T -0.955 T 0.000 T 0.042 -2.432 0.003 2.91 0.311 0.355 6.656 -2.432321 NA 1 0.530821 0.560455 NA 0.507 NA 7.6781124 892 3 113673125 113673125 A G exonic ZDHHC23 NA nonsynonymous SNV ZDHHC23:NM_173570:exon3:c.A740G:p.K247R exonic ENSG00000184307 NA nonsynonymous SNV ENSG00000184307:ENST00000330212:exon3:c.A740G:p.K247R,ENSG00000184307:ENST00000478793:exon3:c.A740G:p.K247R,ENSG00000184307:ENST00000498275:exon4:c.A722G:p.K241R NA NA 3q13.31 NA NA NA NA rs11921691 0.61 0.61 0.607 0.597444 0.5646 0.6696 0.5346 0.646 0.5358 0.58 0.66 0.53 0.65 0.5545 0.66 0.54 T 0.0 B 0.0 B 0.269 N 1.000 P -0.895 N 1.81 T -0.994 T 0.000 T 0.012 -1.308 0.036 2.19 0.309 1.792 10.130 -1.308369 NA 0.68 0.53686 0.60985 NA 0.645 NA 7.6773734 892 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 892 7 156762248 156762248 G A exonic NOM1 NA nonsynonymous SNV NOM1:NM_138400:exon11:c.G2434A:p.V812M exonic ENSG00000146909 NA nonsynonymous SNV ENSG00000146909:ENST00000275820:exon11:c.G2434A:p.V812M NA NA 7q36.3 NA NA NA NA rs12919 0.48 0.48 0.479 0.48143 0.5706 0.2778 0.536 0.556 0.4601 0.55 0.27 0.55 0.56 0.516 0.62 0.55 T 0.002 B 0.003 B 0.000 N 1.000 P -2.015 N 2.8 T -1.029 T 0.000 T 0.016 -1.421 0.021 -3.13 -1.325 -0.199 3.089 -1.421065 NA NA 0.570581 0.553109 ID=COSM1568490;OCCURENCE=1(large_intestine) 0.71 NA 7.6761524 892 8 145066886 145066886 A G exonic GRINA NA synonymous SNV GRINA:NM_000837:exon7:c.A993G:p.L331L,GRINA:NM_001009184:exon7:c.A993G:p.L331L exonic ENSG00000178719 NA synonymous SNV ENSG00000178719:ENST00000313269:exon7:c.A993G:p.L331L,ENSG00000178719:ENST00000395068:exon7:c.A993G:p.L331L Score=582;Name=lod=309 NA 8q24.3 Score=791;Name=V$CMYB_01 Name=ZNF263 NA NA rs13277282 0.97 0.97 0.977 0.979034 1 0.8998 0.9971 1 0.998 1 0.89 1 1 0.9915 1 . . . . . . . . 0.000 P . . . . -1.011 T 0.000 T . 1.309 10.29 2.69 0.580 -0.343 2.531 1.309338 1.309338 NA 0.999767 1 NA 0.768 NA 7.6753996 893 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 893 11 64597506 64597506 T C exonic CDC42BPG NA nonsynonymous SNV CDC42BPG:NM_017525:exon30:c.A3404G:p.Q1135R exonic ENSG00000171219 NA nonsynonymous SNV ENSG00000171219:ENST00000342711:exon30:c.A3404G:p.Q1135R Score=452;Name=lod=92 NA 11q13.1 Score=781;Name=V$ER_Q6 NA NA NA rs3741395 0.34 0.34 0.337 0.316494 0.5765 0.0486 0.3602 0.2398 0.3978 0.59 0.05 0.41 0.26 0.4735 0.61 0.17 T 0.0 B 0.001 B 0.602 N 0.911 P -0.21 N 3.03 T -1.026 T 0.000 T 0.112 1.086 9.431 -0.416 -0.280 0.170 8.586 1.085668 NA 0.2 0.60952 0.306679 NA 0.37 NA 7.6738134 893 21 47863757 47863757 A C exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon45:c.A9735C:p.R3245S exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon45:c.A9735C:p.R3245S NA NA 21q22.3 NA NA NA NA rs2073380 0.23 0.23 0.212 0.20627 0.2157 0.4117 0.1354 0.056 0.2382 0.22 0.45 0.17 0.06 0.2289 0.45 0.77 T 0.01 B 0.009 B . . 1.000 P 0.69 N 4.92 T -0.978 T 0.000 T 0.039 0.404 6.196 -2.95 -0.225 -0.016 1.094 0.404264 NA 0.74 0.215 0.080799 NA 0.239 NA 7.6737334 893 1 110301260 110301260 C T exonic EPS8L3 NA nonsynonymous SNV EPS8L3:NM_024526:exon7:c.G487A:p.G163S,EPS8L3:NM_133181:exon7:c.G487A:p.G163S,EPS8L3:NM_139053:exon7:c.G490A:p.G164S exonic ENSG00000198758 NA nonsynonymous SNV ENSG00000198758:ENST00000361852:exon7:c.G487A:p.G163S,ENSG00000198758:ENST00000361965:exon7:c.G487A:p.G163S,ENSG00000198758:ENST00000369805:exon7:c.G490A:p.G164S NA NA 1p13.3 NA NA NA NA rs6693815 0.29 0.29 0.314 0.316494 0.1918 0.0556 0.2248 0.7239 0.228 0.21 0.07 0.23 0.71 0.2489 0.71 0.75 T 0.013 B 0.004 B 0.085 N 1.000 P -0.69 N 2.6 T -1.078 T 0.018 T 0.056 2.278 13.57 -2.18 -0.055 -0.846 1.328 2.277964 2.277964 0.57 0.219884 0.613482 NA 0.406 NA 7.6727494 893 12 57994743 57994743 T G exonic PIP4K2C NA synonymous SNV PIP4K2C:NM_001146260:exon7:c.T819G:p.L273L,PIP4K2C:NM_001146258:exon8:c.T963G:p.L321L,PIP4K2C:NM_001146259:exon8:c.T909G:p.L303L,PIP4K2C:NM_024779:exon8:c.T963G:p.L321L exonic ENSG00000166908 NA synonymous SNV ENSG00000166908:ENST00000422156:exon7:c.T819G:p.L273L,ENSG00000166908:ENST00000354947:exon8:c.T963G:p.L321L,ENSG00000166908:ENST00000540759:exon8:c.T963G:p.L321L,ENSG00000166908:ENST00000550465:exon8:c.T909G:p.L303L Score=626;Name=lod=466 NA 12q13.3 NA NA NA NA rs775235 0.99 0.99 0.984 0.98123 1 1 0.9928 0.9327 1 1 1 0.99 0.95 0.9947 1 0.02 D . . . . 0.100 N 0.000 P . . 0.83 T -0.840 T 0.000 T . 0.72 7.834 4.38 1.209 0.348 10.618 0.720406 NA NA 0.999302 0.950522 NA 0.986 NA 7.6726646 893 17 260142 260142 G T exonic C17orf97 NA synonymous SNV C17orf97:NM_001013672:exon1:c.G9T:p.T3T exonic ENSG00000187624 NA synonymous SNV ENSG00000187624:ENST00000360127:exon1:c.G9T:p.T3T,ENSG00000187624:ENST00000571106:exon1:c.G9T:p.T3T Score=378;Name=lod=46 NA 17p13.3 Score=914;Name=V$MYCMAX_02 Name=Pol2,ELF1_(SC-631),Sin3Ak-20,THAP1_(SC-98174),Mxi1_(bHLH),SREBP1,Nrf1,AP-2gamma,NANOG_(SC-33759) NA NA rs7503725 0.34 0.34 0.362 0.385583 0.2406 0.3115 0.2666 0.6293 0.3661 0.24 0.3 0.26 0.61 0.5262 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.364369 NA NA 0.227559 0.48883 NA 0.362 NA 7.6723076 893 2 101086966 101086966 C T exonic NMS NA nonsynonymous SNV NMS:NM_001011717:exon1:c.C16T:p.P6S exonic ENSG00000204640 NA nonsynonymous SNV ENSG00000204640:ENST00000376865:exon1:c.C16T:p.P6S NA NA 2q11.2 NA NA NA NA rs13411940 0.26 0.26 0.271 0.270767 0.2048 0.3502 0.1931 0.2776 0.3027 0.22 0.34 0.22 0.28 0.2359 0.34 0.06 T 0.363 B 0.096 B 0.006 N 1.000 P 1.845 L 0.73 T -1.004 T 0.000 T 0.082 1.563 11.18 2.53 0.579 0.009 5.906 1.563248 1.563248 0.06 0.220465 0.271448 ID=COSM148914;OCCURENCE=1(stomach) 0.188 NA 7.6721684 893 5 35039486 35039486 C T exonic AGXT2 NA nonsynonymous SNV AGXT2:NM_031900:exon3:c.G305A:p.S102N exonic ENSG00000113492 NA nonsynonymous SNV ENSG00000113492:ENST00000231420:exon3:c.G305A:p.S102N,ENSG00000113492:ENST00000510428:exon3:c.G305A:p.S102N Score=607;Name=lod=390 NA 5p13.2 NA NA NA NA rs37370 0.81 0.81 0.827 0.810503 0.9115 0.5407 0.7089 0.9849 0.8211 0.91 0.54 0.79 1 0.8437 1 0.45 T 0.0 B 0.0 B 0.001 N 1.000 P -2.645 N 2.41 T -0.949 T 0.000 T 0.015 2.037 12.77 3.34 0.979 0.478 8.049 2.037153 2.037153 0.34 0.906163 0.970041 NA 0.833 NA 7.6719704 893 1 203148633 203148633 A G exonic CHI3L1 NA synonymous SNV CHI3L1:NM_001276:exon10:c.T1092C:p.C364C exonic ENSG00000133048 NA synonymous SNV ENSG00000133048:ENST00000255409:exon10:c.T1092C:p.C364C NA NA 1q32.1 NA NA Name=2 NA rs4950927 1 1 1 0.999601 0.999 1 1 1 0.999 1 1 1 1 0.9988 1 . . . . . . . . 0.000 P . . . . -1.061 T 0.000 T . -0.266 2.725 -6.95 -1.801 -1.210 15.306 -0.265769 NA NA 0.997326 0.999773 NA 1 NA 7.6715406 893 11 5345170 5345170 A G exonic OR51B2 NA nonsynonymous SNV OR51B2:NM_033180:exon1:c.T358C:p.C120R exonic ENSG00000184881 NA nonsynonymous SNV ENSG00000184881:ENST00000328813:exon1:c.T358C:p.C120R Score=412;Name=lod=63 NA 11p15.4 NA NA NA NA rs7952293 0.75 0.75 0.75 0.75599 0.9076 0.5407 0.7651 0.7852 0.7761 0.9 0.53 0.79 0.77 0.8414 0.91 1 T 0.0 B 0.0 B 0.002 N 0.002 P -2.425 N 3.55 T -1.038 T 0.000 T 0.029 -2.04 0.006 2.36 0.127 1.815 6.604 -2.040272 NA 1 0.913312 0.808042 NA 0.783 NA 7.6710214 893 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$IRF7_01 NA NA NA rs2305050 0.67 0.67 0.681 0.654153 0.5557 0.7946 0.5346 0.7844 0.5194 0.57 0.8 0.53 0.78 0.5792 0.8 0.83 T 0.0 B 0.001 B 0.589 N 0.000 P -0.55 N 2.36 T -1.013 T 0.000 T 0.076 -0.22 2.934 0.287 -0.088 0.139 9.443 -0.220339 NA 1 0.527442 0.724569 NA 0.623 NA 7.6709914 893 17 72308319 72308319 G A exonic DNAI2 NA nonsynonymous SNV DNAI2:NM_001172810:exon12:c.G1636A:p.A546T,DNAI2:NM_023036:exon12:c.G1672A:p.A558T exonic ENSG00000171595 NA nonsynonymous SNV ENSG00000171595:ENST00000446837:exon11:c.G1672A:p.A558T,ENSG00000171595:ENST00000579490:exon11:c.G1843A:p.A615T,ENSG00000171595:ENST00000311014:exon12:c.G1672A:p.A558T,ENSG00000171595:ENST00000582036:exon12:c.G1636A:p.A546T NA NA 17q25.1 NA NA NA NA rs1979370 0.78 0.78 0.767 0.740815 0.8946 0.8512 0.8775 0.4251 0.7986 0.91 0.84 0.87 0.45 0.8581 0.91 0.59 T 0.002 B 0.0 B 0.052 N 1.000 P 1.32 L -0.21 T -0.996 T 0.000 T 0.049 0.241 5.301 -9.42 -4.099 -2.581 2.504 0.240835 NA 0.51 0.910349 0.496823 NA 0.638 NA 7.6702844 893 1 16356501 16356501 G A exonic CLCNKA NA nonsynonymous SNV CLCNKA:NM_001257139:exon13:c.G1210A:p.A404T,CLCNKA:NM_001042704:exon14:c.G1339A:p.A447T,CLCNKA:NM_004070:exon14:c.G1339A:p.A447T exonic ENSG00000186510 NA nonsynonymous SNV ENSG00000186510:ENST00000439316:exon13:c.G1210A:p.A404T,ENSG00000186510:ENST00000331433:exon14:c.G1339A:p.A447T,ENSG00000186510:ENST00000420078:exon14:c.G1339A:p.A447T,ENSG00000186510:ENST00000375692:exon15:c.G1339A:p.A447T NA NA 1p36.13 Score=1000;Name=V$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 893 17 74732507 74732507 A G exonic SRSF2 NA synonymous SNV SRSF2:NM_001195427:exon2:c.T402C:p.S134S,SRSF2:NM_003016:exon2:c.T402C:p.S134S exonic ENSG00000161547 NA synonymous SNV ENSG00000161547:ENST00000358156:exon2:c.T381C:p.S127S,ENSG00000161547:ENST00000359995:exon2:c.T402C:p.S134S,ENSG00000161547:ENST00000392485:exon2:c.T402C:p.S134S,ENSG00000161547:ENST00000452355:exon2:c.T402C:p.S134S,ENSG00000161547:ENST00000508921:exon2:c.T366C:p.S122S,ENSG00000161547:ENST00000583836:exon2:c.T345C:p.S115S,ENSG00000161547:ENST00000585202:exon2:c.T402C:p.S134S Score=440;Name=lod=82 NA 17q25.1 NA Name=E2F4,Sin3Ak-20,Mxi1_(bHLH),YY1_(C-20),TCF4,ZNF263,CTCFL_(SC-98982),CCNT2,TBP,YY1,Ini1,CTCF,Pol2(phosphoS2),Pol2,HA-E2F1,CHD2_(N-1250),HEY1,GATA-1,CTCF_(C-20),Pol2-4H8 Name=139 NA rs237058 0.99 0.99 0.987 0.990615 1 1 0.9914 0.969 1 1 1 0.99 0.96 0.9973 1 0.56 T . . . . . . 0.000 P . . . . -0.962 T 0.000 T . 1.816 12.03 -0.491 -0.179 2.679 11.120 1.816363 1.816363 NA 0.999419 0.974807 NA 0.848 NA 7.6699476 893 13 26273385 26273385 G C exonic ATP8A2 NA synonymous SNV ATP8A2:NM_016529:exon25:c.G2286C:p.L762L exonic ENSG00000132932 NA synonymous SNV ENSG00000132932:ENST00000255283:exon24:c.G2166C:p.L722L,ENSG00000132932:ENST00000281620:exon24:c.G1806C:p.L602L,ENSG00000132932:ENST00000381655:exon25:c.G2286C:p.L762L Score=471;Name=lod=109 NA 13q12.13 Score=827;Name=V$XBP1_01 Name=STAT3 Name=3 NA rs6491088 0.99 0.99 0.989 0.98742 1 1 0.9957 0.9546 1 1 1 1 0.96 0.9973 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.907592 NA NA 0.99976 0.968924 NA 0.986 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116459.2;CLNDSDB=.;CLNDSDBID=. 7.6696066 893 1 89849742 89849742 A T exonic GBP6 NA nonsynonymous SNV GBP6:NM_198460:exon10:c.A1559T:p.D520V exonic ENSG00000183347 NA nonsynonymous SNV ENSG00000183347:ENST00000535065:exon8:c.A1169T:p.D390V,ENSG00000183347:ENST00000370456:exon10:c.A1559T:p.D520V NA NA 1p22.2 NA NA NA NA rs959460 0.86 0.86 0.866 0.860623 0.8897 0.7272 0.9193 0.916 0.8517 0.89 0.74 0.92 0.92 0.8828 0.92 0.04 D 0.011 B 0.063 B 0.680 N 1.000 P 0.69 N 0.52 T -1.036 T 0.054 T 0.093 1.61 11.34 3.74 0.693 3.707 7.581 1.609896 1.609896 0.04 0.891279 0.909215 NA 0.891 NA 7.6695544 893 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 893 8 75262798 75262798 G C exonic GDAP1 NA synonymous SNV GDAP1:NM_018972:exon1:c.G102C:p.S34S exonic ENSG00000104381 NA synonymous SNV ENSG00000104381:ENST00000220822:exon1:c.G102C:p.S34S,ENSG00000104381:ENST00000522568:exon1:c.G102C:p.S34S Score=569;Name=lod=275 NA 8q21.11 Score=812;Name=V$MEIS1AHOXA9_01 Name=NRSF,Mxi1_(bHLH),Sin3Ak-20,eGFP-JunD,Oct-2,c-Myc,Nrf1,SP1,YY1_(C-20),BAF155,ZNF263,YY1,TBP,POU2F2,Ini1,TAF7_(SQ-8),HA-E2F1,Pol2,ELF1_(SC-631),HEY1,KAP1,Pol2-4H8,TAF1,BCL3,NFKB Name=147 NA rs7828201 1 1 1 0.995607 1 1 1 1 0.9775 1 1 1 1 0.9973 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.668511 1.668511 NA NA NA NA 1 NA 7.6693666 893 X 153994596 153994596 G T exonic DKC1 NA synonymous SNV DKC1:NM_001142463:exon5:c.G369T:p.T123T,DKC1:NM_001363:exon5:c.G369T:p.T123T exonic ENSG00000130826 NA synonymous SNV ENSG00000130826:ENST00000452771:exon4:c.G327T:p.T109T,ENSG00000130826:ENST00000369550:exon5:c.G369T:p.T123T,ENSG00000130826:ENST00000413910:exon5:c.G369T:p.T123T NA NA Xq28 NA NA NA NA rs2728532 0.99 0.99 0.99285 NA NA NA NA NA NA 1 1 1 0.97 0.9974 1 . . . . . . . . 0.000 P . . . . -1.060 T 0.000 T . 1.008 9.118 -5.61 -2.151 -3.515 3.968 1.008163 NA NA 1 0.977575 NA 0.746 NA 7.6692666 893 19 54649671 54649671 T C exonic CNOT3 NA synonymous SNV CNOT3:NM_014516:exon9:c.T729C:p.P243P exonic ENSG00000088038 NA synonymous SNV ENSG00000088038:ENST00000406403:exon8:c.T729C:p.P243P,ENSG00000088038:ENST00000221232:exon9:c.T729C:p.P243P,ENSG00000088038:ENST00000358389:exon9:c.T186C:p.P62P Score=634;Name=lod=503 NA 19q13.42 Score=978;Name=V$MZF1_01 NA NA NA rs36665 0.99 0.99 0.998 0.994609 1 0.9762 1 0.9992 0.998 1 0.98 1 1 0.9983 1 . . . . . . . . 0.000 P . . . . -1.022 T 0.000 T . 1.274 10.16 -2.02 -0.551 -4.198 5.922 1.273574 1.273574 NA 0.999767 0.999773 NA 0.993 NA 7.6685996 893 2 20823724 20823724 T C exonic HS1BP3 NA synonymous SNV HS1BP3:NM_022460:exon6:c.A852G:p.P284P exonic ENSG00000118960 NA synonymous SNV ENSG00000118960:ENST00000458740:exon3:c.A309G:p.P103P,ENSG00000118960:ENST00000304031:exon6:c.A852G:p.P284P NA NA 2p24.1 NA NA Name=3 NA rs6531248 1 1 0.994 0.996206 1 1 0.9986 0.9864 1 1 1 1 0.99 0.9984 1 . . . . . . . . 0.008 P . . . . -1.039 T 0.000 T . 0.222 5.2 -8.91 -3.351 -4.218 0.193 0.222413 NA NA 0.999884 0.979573 NA 1 NA 7.6683826 893 2 7154632 7154632 T C exonic RNF144A NA synonymous SNV RNF144A:NM_014746:exon4:c.T183C:p.T61T exonic ENSG00000151692 NA synonymous SNV ENSG00000151692:ENST00000320892:exon4:c.T183C:p.T61T Score=618;Name=lod=432 NA 2p25.1 NA Name=SMC3_(ab9263),Max,Rad21,CTCF_(C-20),CTCF_(SC-5916),CTCF Name=100 NA rs309325 1 1 1 0.9998 1 0.999 1 1 1 1 1 1 1 0.9995 1 . . . . . . . . 0.000 P . . . . -1.020 T 0.000 T . 1.08 9.41 -1.96 -0.423 -0.162 5.594 1.080246 NA NA NA NA NA 1 NA 7.6671666 893 13 99112680 99112680 C T exonic STK24 NA synonymous SNV STK24:NM_001032296:exon9:c.G1068A:p.P356P,STK24:NM_003576:exon9:c.G1104A:p.P368P exonic ENSG00000102572 NA synonymous SNV ENSG00000102572:ENST00000418038:exon3:c.G234A:p.P78P,ENSG00000102572:ENST00000539966:exon8:c.G1011A:p.P337P,ENSG00000102572:ENST00000376547:exon9:c.G1104A:p.P368P,ENSG00000102572:ENST00000397517:exon9:c.G1068A:p.P356P Score=564;Name=lod=261 NA 13q32.2 Score=944;Name=V$IK2_01 NA NA NA rs4771305 1 1 1 0.997804 1 1 1 0.9917 1 1 1 1 1 0.9995 1 . . . . . . . . 0.000 P . . . . -1.014 T 0.000 T . 0.894 8.634 2.07 0.136 1.030 4.982 0.894342 NA NA 1 0.995688 NA 1 NA 7.6671666 893 4 57843320 57843320 A G exonic NOA1 NA synonymous SNV NOA1:NM_032313:exon1:c.T432C:p.C144C exonic ENSG00000084092 NA synonymous SNV ENSG00000084092:ENST00000264230:exon1:c.T432C:p.C144C Score=537;Name=lod=203 NA 4q12 Score=712;Name=V$NRSF_01 Name=EBF1_(C-8),TAF1,Pol2,CTCF Name=34 NA rs4865167 1 1 1 0.9998 1 1 1 0.9992 1 1 1 1 1 0.9999 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.640457 1.640457 NA NA NA NA 0.623 NA 7.6667666 893 1 167906239 167906239 A C exonic DCAF6 NA synonymous SNV DCAF6:NM_001017977:exon1:c.A90C:p.R30R,DCAF6:NM_001198956:exon1:c.A90C:p.R30R,DCAF6:NM_001198957:exon1:c.A90C:p.R30R,DCAF6:NM_018442:exon1:c.A90C:p.R30R exonic ENSG00000143164 NA synonymous SNV ENSG00000143164:ENST00000312263:exon1:c.A90C:p.R30R,ENSG00000143164:ENST00000367840:exon1:c.A90C:p.R30R,ENSG00000143164:ENST00000367843:exon1:c.A90C:p.R30R,ENSG00000143164:ENST00000432587:exon1:c.A90C:p.R30R,ENSG00000143164:ENST00000470721:exon1:c.A90C:p.R30R Score=590;Name=lod=333 NA 1q24.2 Score=788;Name=V$PAX5_02 Name=GR,CTCFL_(SC-98982),Egr-1,Sin3Ak-20,ELF1_(SC-631) Name=145 NA rs203788 1 1 1 1 1 1 1 1 1 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 1.884878 1.884878 NA NA NA NA 0.478 NA 7.6666666 893 2 42990746 42990746 G A exonic OXER1 NA synonymous SNV OXER1:NM_148962:exon1:c.C574T:p.L192L exonic ENSG00000162881 NA synonymous SNV ENSG00000162881:ENST00000378661:exon1:c.C574T:p.L192L Score=366;Name=lod=41 NA 2p21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.12035 NA NA NA NA NA NA NA 7.6666666 893 3 14154498 14154498 G A exonic CHCHD4 NA synonymous SNV CHCHD4:NM_001098502:exon3:c.C318T:p.P106P,CHCHD4:NM_144636:exon4:c.C357T:p.P119P exonic ENSG00000163528 NA synonymous SNV ENSG00000163528:ENST00000396914:exon3:c.C318T:p.P106P,ENSG00000163528:ENST00000295767:exon4:c.C357T:p.P119P Score=475;Name=lod=114 NA 3p25.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.309089 1.309089 NA NA NA NA NA NA 7.6666666 893 3 62118299 62118299 A C exonic PTPRG NA synonymous SNV PTPRG:NM_002841:exon6:c.A639C:p.A213A exonic ENSG00000144724 NA synonymous SNV ENSG00000144724:ENST00000295874:exon6:c.A639C:p.A213A,ENSG00000144724:ENST00000474889:exon6:c.A639C:p.A213A Score=661;Name=lod=647 NA 3p14.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.190796 NA NA NA NA NA NA NA 7.6666666 893 6 112508769 112508769 T G exonic LAMA4 NA synonymous SNV LAMA4:NM_001105206:exon8:c.A849C:p.A283A,LAMA4:NM_001105207:exon8:c.A828C:p.A276A,LAMA4:NM_002290:exon8:c.A828C:p.A276A exonic ENSG00000112769 NA synonymous SNV ENSG00000112769:ENST00000424408:exon7:c.A828C:p.A276A,ENSG00000112769:ENST00000521398:exon7:c.A849C:p.A283A,ENSG00000112769:ENST00000230538:exon8:c.A849C:p.A283A,ENSG00000112769:ENST00000389463:exon8:c.A828C:p.A276A,ENSG00000112769:ENST00000522006:exon8:c.A828C:p.A276A Score=374;Name=lod=44 NA 6q21 NA NA NA NA rs9387061 0.82 0.82 1 1 1 1 1 1 1 0.82 0.86 0.86 0.73 1 0.86 . . . . . . . . 0.000 P . . . . -0.998 T 0.091 T . 1.262 10.11 5.04 0.861 4.759 8.320 1.261508 1.261508 NA NA NA NA NA NA 7.6666666 893 11 5968793 5968793 C T exonic OR56A3 NA synonymous SNV OR56A3:NM_001003443:exon1:c.C217T:p.L73L exonic ENSG00000184478 NA synonymous SNV ENSG00000184478:ENST00000329564:exon1:c.C217T:p.L73L Score=500;Name=lod=143 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 0.416734 NA NA NA NA NA NA NA 7.6666666 893 19 48558163 48558163 A G exonic PLA2G4C NA synonymous SNV PLA2G4C:NM_001159322:exon15:c.T1431C:p.F477F,PLA2G4C:NM_001159323:exon15:c.T1401C:p.F467F,PLA2G4C:NM_003706:exon15:c.T1401C:p.F467F exonic ENSG00000105499 NA synonymous SNV ENSG00000105499:ENST00000413144:exon14:c.T1401C:p.F467F,ENSG00000105499:ENST00000354276:exon15:c.T1401C:p.F467F,ENSG00000105499:ENST00000599111:exon15:c.T1431C:p.F477F,ENSG00000105499:ENST00000599921:exon15:c.T1401C:p.F467F Score=329;Name=lod=29 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 2.261186 2.261186 NA NA NA NA NA NA 7.6666666 893 16 81061901 81061901 G A exonic CENPN NA synonymous SNV CENPN:NM_001270473:exon9:c.G876A:p.A292A,CENPN:NM_001270474:exon9:c.G834A:p.A278A,CENPN:NM_001100624:exon10:c.G936A:p.A312A,CENPN:NM_001100625:exon10:c.G936A:p.A312A exonic ENSG00000166451 NA synonymous SNV ENSG00000166451:ENST00000428963:exon9:c.G834A:p.A278A,ENSG00000166451:ENST00000439957:exon9:c.G876A:p.A292A,ENSG00000166451:ENST00000305850:exon10:c.G936A:p.A312A,ENSG00000166451:ENST00000393335:exon10:c.G936A:p.A312A NA NA 16q23.2 NA NA Name=2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008288 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.011455 NA NA NA NA NA NA NA 7.6666583 893 21 47571511 47571511 G A exonic FTCD NA synonymous SNV FTCD:NM_006657:exon5:c.C597T:p.I199I,FTCD:NM_206965:exon5:c.C597T:p.I199I exonic ENSG00000160282 NA synonymous SNV ENSG00000160282:ENST00000291670:exon5:c.C597T:p.I199I,ENSG00000160282:ENST00000355384:exon5:c.C597T:p.I199I,ENSG00000160282:ENST00000359679:exon5:c.C597T:p.I199I,ENSG00000160282:ENST00000397743:exon5:c.C597T:p.I199I,ENSG00000160282:ENST00000397746:exon5:c.C597T:p.I199I,ENSG00000160282:ENST00000397748:exon5:c.C597T:p.I199I Score=605;Name=lod=385 NA 21q22.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003339 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.734787 NA NA NA NA NA NA NA 7.6666332 893 12 112666502 112666502 C T exonic HECTD4 NA synonymous SNV HECTD4:NM_001109662:exon42:c.G6231A:p.A2077A exonic ENSG00000173064 NA synonymous SNV ENSG00000173064:ENST00000377560:exon41:c.G6117A:p.A2039A,ENSG00000173064:ENST00000430131:exon41:c.G5367A:p.A1789A,ENSG00000173064:ENST00000550722:exon42:c.G6195A:p.A2065A Score=575;Name=lod=290 NA 12q24.13 NA NA NA 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 0.787357 NA NA NA NA NA NA NA 7.6666086 893 5 6750496 6750496 G A exonic PAPD7 NA synonymous SNV PAPD7:NM_001171806:exon4:c.G450A:p.T150T,PAPD7:NM_001171805:exon10:c.G990A:p.T330T,PAPD7:NM_006999:exon10:c.G990A:p.T330T exonic ENSG00000112941 NA synonymous SNV ENSG00000112941:ENST00000230859:exon10:c.G990A:p.T330T NA NA 5p15.31 Score=755;Name=V$HEN1_02 Name=NRSF NA NA rs145632942 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004129 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.919074 NA NA 0.000116 0 NA NA NA 7.6665093 893 3 196304665 196304665 C T exonic FBXO45 NA synonymous SNV FBXO45:NM_001105573:exon2:c.C660T:p.N220N exonic ENSG00000174013 NA synonymous SNV ENSG00000174013:ENST00000311630:exon2:c.C660T:p.N220N,ENSG00000174013:ENST00000440469:exon2:c.C123T:p.N41N Score=798;Name=lod=2329 NA 3q29 NA NA NA NA NA NA NA NA 0.000399361 NA 0.001 NA NA 0.001 NA NA NA NA 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.595958 NA NA NA NA ID=COSM460822;OCCURENCE=1(cervix) NA NA 7.6664666 893 17 3844571 3844571 G C exonic ATP2A3 NA synonymous SNV ATP2A3:NM_005173:exon14:c.C1794G:p.G598G,ATP2A3:NM_174953:exon14:c.C1794G:p.G598G,ATP2A3:NM_174954:exon14:c.C1794G:p.G598G,ATP2A3:NM_174955:exon14:c.C1794G:p.G598G,ATP2A3:NM_174956:exon14:c.C1794G:p.G598G,ATP2A3:NM_174957:exon14:c.C1794G:p.G598G,ATP2A3:NM_174958:exon14:c.C1794G:p.G598G exonic ENSG00000074370 NA synonymous SNV ENSG00000074370:ENST00000309890:exon14:c.C1794G:p.G598G,ENSG00000074370:ENST00000352011:exon14:c.C1794G:p.G598G,ENSG00000074370:ENST00000359983:exon14:c.C1794G:p.G598G,ENSG00000074370:ENST00000397035:exon14:c.C1794G:p.G598G,ENSG00000074370:ENST00000397041:exon14:c.C1794G:p.G598G,ENSG00000074370:ENST00000397043:exon14:c.C1794G:p.G598G Score=579;Name=lod=300 NA 17p13.2 Score=893;Name=V$EGR3_01 NA NA NA rs374261780 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 1.176754 NA NA 0.000116 0 NA NA NA 7.6664506 893 5 132432903 132432903 G A exonic HSPA4 NA synonymous SNV HSPA4:NM_002154:exon15:c.G1854A:p.K618K exonic ENSG00000170606 NA synonymous SNV ENSG00000170606:ENST00000304858:exon15:c.G1854A:p.K618K Score=524;Name=lod=180 NA 5q31.1 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 1.250133 1.250133 NA NA NA NA NA NA 7.6663666 893 4 40947002 40947002 A G exonic APBB2 NA synonymous SNV APBB2:NM_001166050:exon7:c.T921C:p.Y307Y,APBB2:NM_004307:exon7:c.T924C:p.Y308Y,APBB2:NM_173075:exon7:c.T921C:p.Y307Y exonic ENSG00000163697 NA synonymous SNV ENSG00000163697:ENST00000295974:exon7:c.T921C:p.Y307Y,ENSG00000163697:ENST00000506352:exon7:c.T921C:p.Y307Y,ENSG00000163697:ENST00000508593:exon7:c.T924C:p.Y308Y,ENSG00000163697:ENST00000513140:exon7:c.T921C:p.Y307Y Score=558;Name=lod=248 NA 4p14 Score=815;Name=V$MEF2_02 NA NA NA rs369914905 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006624 0.0006 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.086504 NA NA 0.0006 0 NA NA NA 7.6660004 893 17 40695143 40695143 G T exonic NAGLU NA synonymous SNV NAGLU:NM_000263:exon6:c.G1119T:p.V373V exonic ENSG00000108784 NA synonymous SNV ENSG00000108784:ENST00000225927:exon6:c.G1119T:p.V373V Score=325;Name=lod=28 NA 17q21.2 Score=930;Name=V$USF_Q6 NA NA NA rs371656965 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0004 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 -1.413869 NA NA 0.000465 0 NA NA NA 7.6658016 893 9 107574906 107574906 C T exonic ABCA1 NA synonymous SNV ABCA1:NM_005502:exon28:c.G3999A:p.L1333L exonic ENSG00000165029 NA synonymous SNV ENSG00000165029:ENST00000374736:exon28:c.G3999A:p.L1333L Score=692;Name=lod=869 NA 9q31.1 Score=816;Name=V$SRF_Q6 NA NA NA rs183043192 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.00009884 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.22821 NA NA NA NA NA NA NA 7.6655678 893 20 23065209 23065209 G A exonic CD93 NA nonsynonymous SNV CD93:NM_012072:exon1:c.C1621T:p.P541S exonic ENSG00000125810 NA nonsynonymous SNV ENSG00000125810:ENST00000246006:exon1:c.C1621T:p.P541S NA NA 20p11.21 NA NA NA NA rs3746731 0.53 0.53 0.521 0.541134 0.5378 0.6468 0.6254 0.3427 0.6442 0.52 0.67 0.59 0.35 0.5635 0.67 0.42 T 0.192 B 0.086 B 0.001 N 1.000 P 1.32 L -1.43 T -0.903 T 0.000 T 0.066 1.911 12.35 3.84 0.778 2.358 9.364 1.910938 1.910938 0.58 0.566628 0.367227 NA 0.529 NA 7.6654054 893 10 38241220 38241220 T C exonic ZNF25 NA synonymous SNV ZNF25:NM_145011:exon6:c.A1206G:p.E402E exonic ENSG00000175395 NA synonymous SNV ENSG00000175395:ENST00000302609:exon6:c.A1206G:p.E402E NA NA 10p11.1 Score=914;Name=V$CEBP_01 NA Name=6 NA rs146555827 0 0 NA NA NA NA NA NA NA NA NA NA NA 0.0006 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 0.177218 NA NA 0.001047 0.000227 NA NA NA 7.6650196 894 14 24910973 24910973 T G exonic SDR39U1 NA nonsynonymous SNV SDR39U1:NM_020195:exon4:c.A235C:p.I79L exonic ENSG00000100445 NA nonsynonymous SNV ENSG00000100445:ENST00000399395:exon4:c.A235C:p.I79L Score=537;Name=lod=203 NA 14q12 NA NA NA NA rs11625819 0.67 0.67 0.761 0.765176 0.9046 0.8383 0.8516 0.4667 0.8885 0.76 0.74 0.76 0.39 0.8596 0.9 1 T 0.0 B 0.0 B 0.002 N 0.000 P -0.625 N -3.32 D -0.936 T 0.000 T 0.045 -0.058 3.718 3.57 0.335 0.620 8.809 -0.058147 NA 0.9 0.904255 0.526444 NA NA NA 7.6648784 894 1 161163108 161163108 C T exonic ADAMTS4 NA synonymous SNV ADAMTS4:NM_005099:exon7:c.G1806A:p.G602G exonic ENSG00000158859 NA synonymous SNV ENSG00000158859:ENST00000367996:exon7:c.G1806A:p.G602G Score=557;Name=lod=245 NA 1q23.3 Score=790;Name=V$ARP1_01 NA NA NA rs199819346 0 0 NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0007 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.362443 1.362443 NA 0.000116 0 NA NA NA 7.6648506 894 10 85981842 85981842 A G exonic LRIT2 NA nonsynonymous SNV LRIT2:NM_001017924:exon3:c.T1487C:p.V496A exonic ENSG00000204033 NA nonsynonymous SNV ENSG00000204033:ENST00000372113:exon3:c.T1487C:p.V496A,ENSG00000204033:ENST00000538192:exon4:c.T1517C:p.V506A NA NA 10q23.1 NA NA NA NA rs12217769 0.22 0.22 0.189 0.207867 0.2346 0.3452 0.2911 0.0522 0.1902 0.22 0.31 0.28 0.07 0.2128 0.31 0.53 T 0.019 B 0.006 B 0.666 N 1.000 P 0 N 2.32 T -0.902 T 0.000 T 0.133 -2.043 0.006 2.88 0.535 0.736 8.319 -2.043231 NA 0.35 0.221163 0.086512 NA 0.13 NA 7.6647704 894 19 56600103 56600103 G A exonic ZNF787 NA synonymous SNV ZNF787:NM_001002836:exon3:c.C438T:p.G146G exonic ENSG00000142409 NA synonymous SNV ENSG00000142409:ENST00000270459:exon3:c.C438T:p.G146G Score=698;Name=lod=912 NA 19q13.43 NA NA Name=2 NA rs200084389 NA NA NA 0.000399361 0.001 NA NA 0.0008 NA NA NA NA NA 0.0007 0.0006 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.082857 NA NA 0.000582 0.000454 NA NA NA 7.6643846 894 7 149151323 149151323 A G exonic ZNF777 NA synonymous SNV ZNF777:NM_015694:exon3:c.T852C:p.P284P exonic ENSG00000196453 NA synonymous SNV ENSG00000196453:ENST00000247930:exon3:c.T852C:p.P284P Score=517;Name=lod=168 NA 7q36.1 Score=906;Name=V$MEIS1_01 NA NA NA rs184833876 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 1.46712 1.46712 NA 0.001163 0 NA NA NA 7.6643036 894 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 894 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 894 14 74970666 74970666 G A exonic LTBP2 NA synonymous SNV LTBP2:NM_000428:exon31:c.C4545T:p.P1515P exonic ENSG00000119681 NA synonymous SNV ENSG00000119681:ENST00000556690:exon30:c.C4413T:p.P1471P,ENSG00000119681:ENST00000261978:exon31:c.C4545T:p.P1515P,ENSG00000119681:ENST00000553939:exon31:c.C4545T:p.P1515P Score=412;Name=lod=63 NA 14q24.3 Score=860;Name=V$CHOP_01 NA NA NA rs144521879 0.0005 0.0005 NA 0.000599042 0.001 NA NA 0.0008 0.001 0.0013 NA NA NA 0.0013 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.501848 NA NA 0.00093 0 NA NA NA 7.6634366 894 7 101917521 101917521 G A exonic CUX1 NA nonsynonymous SNV CUX1:NM_001202544:exon15:c.G1342A:p.A448T,CUX1:NM_001202545:exon15:c.G1252A:p.A418T,CUX1:NM_001202546:exon15:c.G1273A:p.A425T,CUX1:NM_001913:exon16:c.G1390A:p.A464T,CUX1:NM_181500:exon16:c.G1384A:p.A462T exonic ENSG00000257923 NA nonsynonymous SNV ENSG00000257923:ENST00000393824:exon15:c.G1273A:p.A425T,ENSG00000257923:ENST00000425244:exon15:c.G1252A:p.A418T,ENSG00000257923:ENST00000547394:exon15:c.G1342A:p.A448T,ENSG00000257923:ENST00000292538:exon16:c.G1390A:p.A464T,ENSG00000257923:ENST00000437600:exon16:c.G1384A:p.A462T NA NA 7q22.1 NA Name=ZNF263 NA NA rs803064 0.56 0.56 0.567 0.559105 0.5358 0.498 0.5072 0.6172 0.6043 0.56 0.48 0.56 0.65 0.5685 0.65 0.61 T 0.229 B 0.052 B . . 1.000 P 1.24 L 1.51 T -0.953 T 0.000 T 0.273 0.489 6.651 -0.106 0.064 2.486 7.499 0.488701 NA 0.43 0.566163 0.592147 NA 0.536 NA 7.6628704 894 5 140347053 140347053 C T exonic PCDHAC2 NA synonymous SNV PCDHAC2:NM_018899:exon1:c.C702T:p.I234I,PCDHAC2:NM_031883:exon1:c.C702T:p.I234I exonic ENSG00000243232 NA synonymous SNV ENSG00000243232:ENST00000289269:exon1:c.C702T:p.I234I Score=436;Name=lod=79 NA 5q31.3 Score=951;Name=V$NFKAPPAB_01 Name=ZNF263 NA NA rs155807 0.35 0.35 0.319 0.354832 0.332 0.5456 0.3934 0.2239 0.3313 0.32 0.52 0.31 0.2 0.3439 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.158202 NA NA 0.327907 0.249887 NA 0.29 NA 7.6628596 894 4 90169925 90169925 A G exonic GPRIN3 NA nonsynonymous SNV GPRIN3:NM_198281:exon2:c.T1337C:p.V446A exonic ENSG00000185477 NA nonsynonymous SNV ENSG00000185477:ENST00000333209:exon2:c.T1337C:p.V446A NA NA 4q22.1 NA NA NA NA rs7653897 0.57 0.57 0.594 0.623003 0.5686 0.5526 0.3545 0.7625 0.7536 0.55 0.58 0.37 0.73 0.5613 0.73 1 T 0.0 B 0.0 B 0.127 N 1.000 P -0.205 N 3.09 T -0.990 T 0.000 T 0.005 -1.709 0.011 -10.8 -5.479 -2.239 2.434 -1.709431 NA 1 0.541047 0.724921 NA 0.572 NA 7.6623864 894 19 15164442 15164442 G A exonic CASP14 NA synonymous SNV CASP14:NM_012114:exon3:c.G177A:p.E59E exonic ENSG00000105141 NA synonymous SNV ENSG00000105141:ENST00000221740:exon2:c.G177A:p.E59E,ENSG00000105141:ENST00000427043:exon3:c.G177A:p.E59E Score=355;Name=lod=37 NA 19p13.12 NA Name=STAT1 NA NA rs112231728 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0009 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 0.948697 NA NA 0.002558 0.000454 NA NA NA 7.6622086 894 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=YY1,CCNT2,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 894 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 894 1 146740502 146740502 C G exonic CHD1L NA nonsynonymous SNV CHD1L:NM_001256338:exon4:c.C438G:p.H146Q,CHD1L:NM_001256337:exon5:c.C207G:p.H69Q,CHD1L:NM_001256336:exon9:c.C750G:p.H250Q,CHD1L:NM_004284:exon10:c.C1050G:p.H350Q,CHD1L:NM_024568:exon10:c.C711G:p.H237Q exonic ENSG00000131778 NA nonsynonymous SNV ENSG00000131778:ENST00000369259:exon4:c.C438G:p.H146Q,ENSG00000131778:ENST00000361293:exon5:c.C207G:p.H69Q,ENSG00000131778:ENST00000369258:exon10:c.C1050G:p.H350Q Score=589;Name=lod=330 NA 1q21.1 NA NA NA NA rs17356233 0.14 0.14 0.121 0.147165 0.2306 0.1111 0.1931 0.0076 0.2546 0.22 0.1 0.19 0.01 0.2076 0.23 0.29 T 0.396 B 0.249 B 0.019 N 0.000 P -1 N -0.14 T -1.037 T 0.032 T 0.209 1.519 11.03 -0.764 -0.148 0.211 8.959 1.51868 1.51868 0.29 0.233721 0.047208 NA 0.13 NA 7.6614124 894 19 45971961 45971961 C G exonic FOSB NA synonymous SNV FOSB:NM_001114171:exon1:c.C117G:p.A39A,FOSB:NM_006732:exon1:c.C117G:p.A39A exonic ENSG00000125740 NA synonymous SNV ENSG00000125740:ENST00000353609:exon1:c.C117G:p.A39A,ENSG00000125740:ENST00000417353:exon1:c.C117G:p.A39A,ENSG00000125740:ENST00000443841:exon1:c.C117G:p.A39A,ENSG00000125740:ENST00000585836:exon1:c.C117G:p.A39A,ENSG00000125740:ENST00000590335:exon1:c.C117G:p.A39A,ENSG00000125740:ENST00000591858:exon1:c.C117G:p.A39A,ENSG00000125740:ENST00000592436:exon1:c.C117G:p.A39A Score=613;Name=lod=415 NA 19q13.32 Score=856;Name=V$CMYB_01 Name=Pol2 NA NA rs2282695 0.36 0.36 0.373 0.397364 0.3449 0.2292 0.1931 0.6362 0.4468 0.35 0.28 0.21 0.6 0.3422 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.879488 1.879488 NA 0.318436 0.553409 NA 0.42 NA 7.6611306 894 9 137710863 137710863 C T exonic COL5A1 NA synonymous SNV COL5A1:NM_000093:exon57:c.C4410T:p.P1470P exonic ENSG00000130635 NA synonymous SNV ENSG00000130635:ENST00000371817:exon57:c.C4410T:p.P1470P Score=527;Name=lod=184 NA 9q34.3 Score=704;Name=V$HOX13_01 NA NA NA rs41310953 0.0014 0.0014 NA 0.00179712 0.003 0.001 0.0014 0.0023 0.001 0.004 NA NA NA 0.0018 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 1.035541 NA NA 0.001744 0.003404 NA NA NA 7.6601226 894 2 215802308 215802308 A G exonic ABCA12 NA synonymous SNV ABCA12:NM_015657:exon43:c.T6514C:p.L2172L,ABCA12:NM_173076:exon51:c.T7468C:p.L2490L exonic ENSG00000144452 NA synonymous SNV ENSG00000144452:ENST00000389661:exon43:c.T6514C:p.L2172L,ENSG00000144452:ENST00000272895:exon51:c.T7468C:p.L2490L Score=541;Name=lod=210 NA 2q35 Score=1000;Name=V$NKX25_01 NA NA NA rs149561952 0.0009 0.0009 0.001 0.00159744 0.003 NA 0.0029 NA 0.0031 0.0013 NA 0.0028 NA 0.0016 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.486834 NA NA 0.002326 0.000227 NA NA NA 7.6597406 894 22 31302233 31302233 T C exonic OSBP2 NA synonymous SNV OSBP2:NM_030758:exon14:c.T2658C:p.D886D exonic ENSG00000184792 NA synonymous SNV ENSG00000184792:ENST00000535268:exon12:c.T1290C:p.D430D,ENSG00000184792:ENST00000401475:exon13:c.T1557C:p.D519D,ENSG00000184792:ENST00000437268:exon13:c.T1887C:p.D629D,ENSG00000184792:ENST00000332585:exon14:c.T2658C:p.D886D,ENSG00000184792:ENST00000407373:exon14:c.T2139C:p.D713D,ENSG00000184792:ENST00000446658:exon14:c.T2655C:p.D885D,ENSG00000184792:ENST00000403222:exon15:c.T2160C:p.D720D Score=510;Name=lod=158 NA 22q12.2 Score=808;Name=V$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 894 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 894 11 48166267 48166267 G C exonic PTPRJ NA nonsynonymous SNV PTPRJ:NM_002843:exon13:c.G2616C:p.E872D exonic ENSG00000149177 NA nonsynonymous SNV ENSG00000149177:ENST00000418331:exon13:c.G2616C:p.E872D NA NA 11p11.2 NA NA NA NA rs4752904 0.44 0.44 0.39 0.367212 0.5835 0.3839 0.5908 0.056 0.3896 0.59 0.44 0.59 0.08 0.5153 0.59 1 T 0.007 B 0.006 B . . 0.000 P 0.46 N 2.57 T -0.911 T 0.000 T 0.045 0.121 4.648 -10.9 -2.555 -4.356 1.744 0.120524 NA 0.46 0.576082 0.148569 NA 0.312 NA 7.6584514 894 6 160670282 160670282 A C exonic SLC22A2 NA nonsynonymous SNV SLC22A2:NM_003058:exon4:c.T808G:p.S270A exonic ENSG00000112499 NA nonsynonymous SNV ENSG00000112499:ENST00000366953:exon4:c.T808G:p.S270A,ENSG00000112499:ENST00000366952:exon6:c.T745G:p.S249A NA NA 6q25.3 NA NA NA NA rs316019 0.88 0.88 0.874 0.86262 0.8897 0.8641 0.9078 0.8147 0.8661 0.89 0.87 0.91 0.84 0.8933 0.91 0.1 T 0.364 B 0.37 B 0.001 N 1.000 P 2.13 M 0.67 T -1.008 T 0.079 T 0.071 1.257 10.1 -2.29 -0.415 2.353 8.424 1.256675 1.256675 0.03 0.892093 0.853836 NA 0.92 NA 7.6582404 894 2 220430203 220430203 C T exonic OBSL1 NA nonsynonymous SNV OBSL1:NM_001173408:exon6:c.G2168A:p.R723K,OBSL1:NM_001173431:exon6:c.G2168A:p.R723K,OBSL1:NM_015311:exon6:c.G2168A:p.R723K exonic ENSG00000124006 NA nonsynonymous SNV ENSG00000124006:ENST00000265318:exon6:c.G2168A:p.R723K,ENSG00000124006:ENST00000289656:exon6:c.G929A:p.R310K,ENSG00000124006:ENST00000373873:exon6:c.G2168A:p.R723K,ENSG00000124006:ENST00000373876:exon6:c.G2168A:p.R723K,ENSG00000124006:ENST00000404537:exon6:c.G2168A:p.R723K,ENSG00000124006:ENST00000603926:exon6:c.G2168A:p.R723K Score=405;Name=lod=59 NA 2q35 Score=802;Name=V$ER_Q6 NA NA NA rs1039898 0.82 0.82 0.814 0.792732 0.9066 0.9038 0.8228 0.5847 0.8211 0.91 0.89 0.85 0.6 0.8655 0.91 1 T 0.0 B 0.001 B . . 0.000 P -0.41 N 0.9 T -0.957 T 0.000 T 0.044 -0.599 1.322 2.12 -0.096 -0.120 6.579 -0.5992 NA 1 0.904342 0.672051 NA 0.826 NA 7.6568914 894 18 2616457 2616457 G C exonic NDC80 NA nonsynonymous SNV NDC80:NM_006101:exon17:c.G1813C:p.A605P exonic ENSG00000080986 NA nonsynonymous SNV ENSG00000080986:ENST00000261597:exon17:c.G1813C:p.A605P Score=407;Name=lod=60 NA 18p11.32 NA NA NA NA rs9051 0.18 0.18 0.154 0.183506 0.2286 0.125 0.1354 0.1241 0.3119 0.25 0.12 0.17 0.13 0.2151 0.25 0.26 T 0.162 B 0.062 B 0.525 N 1.000 P 0 N 0.81 T -1.027 T 0.000 T 0.212 1.198 9.867 1.29 0.332 -0.152 5.539 1.19786 NA NA 0.233318 0.150841 NA 0.145 NA 7.6563154 894 19 45849909 45849909 A G exonic KLC3 NA synonymous SNV KLC3:NM_177417:exon3:c.A366G:p.E122E exonic ENSG00000104892 NA synonymous SNV ENSG00000104892:ENST00000470402:exon2:c.A408G:p.E136E,ENSG00000104892:ENST00000391946:exon3:c.A366G:p.E122E,ENSG00000104892:ENST00000585434:exon3:c.A366G:p.E122E,ENSG00000104892:ENST00000589837:exon3:c.A318G:p.E106E,ENSG00000104892:ENST00000590063:exon3:c.A366G:p.E122E,ENSG00000104892:ENST00000589373:exon4:c.A366G:p.E122E Score=637;Name=lod=516 NA 19q13.32 NA Name=PU.1,CTCFL_(SC-98982),E2F6_(H-50),CTCF Name=11 NA rs9749618 0.2 0.2 0.195 0.196286 0.334 0.0873 0.1873 0.0809 0.3292 0.35 0.1 0.19 0.1 0.3879 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.571954 1.571954 NA 0.288944 0.112633 ID=COSM1394587;OCCURENCE=1(large_intestine) 0.188 NA 7.6558226 894 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 894 14 64637147 64637147 C A exonic SYNE2 NA synonymous SNV SYNE2:NM_015180:exon94:c.C17202A:p.L5734L,SYNE2:NM_182914:exon94:c.C17202A:p.L5734L exonic ENSG00000054654 NA synonymous SNV ENSG00000054654:ENST00000553289:exon7:c.C957A:p.L319L,ENSG00000054654:ENST00000555612:exon14:c.C2088A:p.L696L,ENSG00000054654:ENST00000394768:exon42:c.C6357A:p.L2119L,ENSG00000054654:ENST00000555002:exon45:c.C7104A:p.L2368L,ENSG00000054654:ENST00000344113:exon94:c.C17202A:p.L5734L,ENSG00000054654:ENST00000358025:exon94:c.C17202A:p.L5734L,ENSG00000054654:ENST00000357395:exon95:c.C6357A:p.L2119L NA NA 14q23.2 NA Name=PU.1 Name=2 NA rs7161192 0.39 0.39 0.369 0.365815 0.335 0.5526 0.3055 0.3464 0.274 0.33 0.57 0.3 0.34 0.351 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.612308 NA NA 0.325 0.368815 NA 0.29 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118525.1;CLNDSDB=.;CLNDSDBID=. 7.6556666 894 6 34214322 34214322 C G exonic C6orf1 NA nonsynonymous SNV C6orf1:NM_001008703:exon5:c.G449C:p.G150A,C6orf1:NM_001008704:exon5:c.G449C:p.G150A,C6orf1:NM_178508:exon5:c.G449C:p.G150A exonic ENSG00000186577 NA nonsynonymous SNV ENSG00000186577:ENST00000335352:exon4:c.G389C:p.G130A,ENSG00000186577:ENST00000413013:exon4:c.G389C:p.G130A,ENSG00000186577:ENST00000394990:exon5:c.G449C:p.G150A,ENSG00000186577:ENST00000468145:exon5:c.G449C:p.G150A,ENSG00000186577:ENST00000476320:exon5:c.G449C:p.G150A,ENSG00000186577:ENST00000481533:exon5:c.G449C:p.G150A NA Name=Height 6p21.31 NA Name=JunD,AP-2alpha,Egr-1,AP-2gamma,CTCF,Ini1,Pol2,BCLAF1_(M33-P5B11),Pol2-4H8,TAF1 Name=122 NA rs1150781 0.77 0.77 0.77 0.765176 0.9215 0.8611 0.6599 0.4932 0.9479 0.93 0.84 0.67 0.51 0.8538 0.93 1 T 0.123 B 0.015 B . . 1.000 P 0 N 1.03 T -0.979 T 0.011 T 0.077 1.223 9.963 0.412 -0.069 -0.280 3.219 1.223356 NA 1 0.902674 0.573309 ID=COSM1443927;OCCURENCE=1(large_intestine) 0.775 NA 7.6553594 894 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 895 8 142505038 142505038 T C splicing MROH5 NM_207414:exon5:c.409-1A>G NA NA splicing ENSG00000226807 ENST00000521053:exon4:c.227-1A>G,ENST00000523857:exon4:c.227-1A>G,ENST00000430863:exon5:c.409-1A>G,ENST00000521161:exon4:c.304-1A>G NA NA Score=412;Name=lod=63 NA 8q24.3 NA NA NA NA rs6578193 0.77 0.77 0.725 0.79373 0.7873 0.6657 0.8415 0.8026 0.8865 0.77 0.65 0.83 0.84 0.7882 0.84 . . . . . . . . . . . . . . . . . . . 2.602 14.66 4.46 1.194 1.400 9.285 2.60217 2.60217 NA 0.770267 0.789834 ID=COSN168446;OCCURENCE=1(large_intestine) 0.783 NA 7.654233 895 1 248004687 248004687 C G exonic OR11L1 NA nonsynonymous SNV OR11L1:NM_001001959:exon1:c.G512C:p.R171P exonic ENSG00000197591 NA nonsynonymous SNV ENSG00000197591:ENST00000355784:exon1:c.G512C:p.R171P Score=374;Name=lod=44 NA 1q44 NA NA NA NA rs10888255 0.88 0.88 0.889 0.870407 0.8986 0.996 0.8732 0.7103 0.9264 0.91 1 0.89 0.71 0.8983 1 1 T 0.0 B 0.0 B 0.049 N 1.000 P -1.65 N 1.29 T -0.964 T 0.000 T 0.053 -1.971 0.007 4.27 1.161 0.879 9.062 -1.970806 NA 1 0.882209 0.727871 NA 0.833 NA 7.6542244 895 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 895 19 46057081 46057081 A G exonic OPA3 NA synonymous SNV OPA3:NM_025136:exon2:c.T231C:p.A77A exonic ENSG00000125741 NA synonymous SNV ENSG00000125741:ENST00000263275:exon2:c.T231C:p.A77A,ENSG00000125741:ENST00000544371:exon2:c.T72C:p.A24A Score=528;Name=lod=187 NA 19q13.32 Score=758;Name=V$TCF11MAFG_01 Name=CTCF,Rad21,YY1_(C-20) NA NA rs3826860 0.77 0.77 0.743 0.766973 0.664 0.8869 0.8055 0.7806 0.7035 0.67 0.88 0.76 0.78 0.7076 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.933086 1.933086 NA 0.642841 0.760246 ID=COSM439792;OCCURENCE=1(breast) 0.659 CLINSIG=non-pathogenic|other|probable-non-pathogenic;CLNDBN=Optic_atrophy_and_cataract\x2c_autosomal_dominant|not_specified|not_provided;CLNREVSTAT=single|mult|single;CLNACC=RCV000020908.1|RCV000082252.3|RCV000132683.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.|.;CLNDSDBID=NBK1473:C1833809:165300:ORPHA67036|.|. 7.6522256 895 3 52558008 52558008 T C exonic STAB1 NA nonsynonymous SNV STAB1:NM_015136:exon67:c.T7517C:p.M2506T exonic ENSG00000010327 NA nonsynonymous SNV ENSG00000010327:ENST00000321725:exon67:c.T7517C:p.M2506T NA NA 3p21.1 NA NA NA NA rs13303 0.6 0.6 0.593 0.548522 0.5656 0.4524 0.6513 0.7141 0.3333 0.57 0.51 0.66 0.69 0.5453 0.69 0.76 T 0.0 B 0.0 B 0.698 N 1.000 P -1.39 N -1.77 D -0.945 T 0.000 T 0.411 -1.585 0.014 3.6 0.819 -0.595 6.319 -1.58471 NA 0.82 0.570414 0.651295 NA 0.543 NA 7.6520194 895 9 138669261 138669261 G A exonic KCNT1 NA synonymous SNV KCNT1:NM_001272003:exon20:c.G2292A:p.T764T,KCNT1:NM_020822:exon21:c.G2427A:p.T809T exonic ENSG00000107147 NA synonymous SNV ENSG00000107147:ENST00000487664:exon20:c.G2292A:p.T764T,ENSG00000107147:ENST00000491806:exon20:c.G2328A:p.T776T,ENSG00000107147:ENST00000263604:exon21:c.G2370A:p.T790T,ENSG00000107147:ENST00000298480:exon21:c.G2427A:p.T809T,ENSG00000107147:ENST00000371757:exon21:c.G2427A:p.T809T,ENSG00000107147:ENST00000486577:exon21:c.G2304A:p.T768T,ENSG00000107147:ENST00000488444:exon21:c.G2370A:p.T790T,ENSG00000107147:ENST00000490355:exon21:c.G2364A:p.T788T Score=399;Name=lod=56 NA 9q34.3 Score=791;Name=V$AHRARNT_02 NA NA Score=138;Name=2493133_0_+_138 rs914428 0.63 0.63 0.583 0.652157 0.6779 0.5744 0.6916 0.5461 0.8211 0.69 0.58 0.7 0.56 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 0.535901 NA NA 0.668488 0.569451 NA 0.594 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117363.2;CLNDSDB=.;CLNDSDBID=. 7.6515786 895 4 186112135 186112135 G A exonic KIAA1430 NA synonymous SNV KIAA1430:NM_020827:exon2:c.C216T:p.N72N exonic ENSG00000164323 NA synonymous SNV ENSG00000164323:ENST00000296775:exon2:c.C216T:p.N72N,ENSG00000164323:ENST00000458385:exon2:c.C216T:p.N72N,ENSG00000164323:ENST00000514798:exon2:c.C216T:p.N72N,ENSG00000164323:ENST00000503223:exon3:c.C216T:p.N72N NA NA 4q35.1 Score=850;Name=V$EVI1_04 Name=PU.1,NFKB NA NA rs147009616 0.0018 0.0018 0.002 0.00119808 0.005 NA 0.0014 NA NA 0.01 NA NA NA 0.0042 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.873963 NA NA 0.006366 0.001915 NA NA NA 7.6511006 895 10 71176012 71176012 A G exonic TACR2 NA nonsynonymous SNV TACR2:NM_001057:exon1:c.T68C:p.I23T exonic ENSG00000075073 NA nonsynonymous SNV ENSG00000075073:ENST00000373306:exon1:c.T68C:p.I23T NA NA 10q22.1 NA NA NA NA rs5030920 0.22 0.22 0.222 0.24361 0.2356 0.0546 0.1758 0.4002 0.2832 0.24 0.05 0.19 0.4 0.2223 0.4 0.49 T 0.0 B 0.0 B 0.291 N 1.000 P 0.805 L 1.23 T -0.914 T 0.000 T 0.05 -0.587 1.368 2.83 0.431 0.208 7.330 -0.586835 NA 0.44 0.224419 0.374262 ID=COSM1348802;OCCURENCE=1(large_intestine) 0.312 NA 7.6510144 895 2 1842968 1842968 T C exonic MYT1L NA synonymous SNV MYT1L:NM_015025:exon21:c.A3027G:p.G1009G exonic ENSG00000186487 NA synonymous SNV ENSG00000186487:ENST00000399157:exon2:c.A195G:p.G65G,ENSG00000186487:ENST00000407844:exon3:c.A21G:p.G7G,ENSG00000186487:ENST00000399161:exon21:c.A3033G:p.G1011G,ENSG00000186487:ENST00000428368:exon21:c.A3027G:p.G1009G NA NA 2p25.3 Score=693;Name=V$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 895 1 214492286 214492286 G A exonic SMYD2 NA nonsynonymous SNV SMYD2:NM_020197:exon5:c.G494A:p.G165E exonic ENSG00000143499 NA nonsynonymous SNV ENSG00000143499:ENST00000366957:exon5:c.G494A:p.G165E,ENSG00000143499:ENST00000415093:exon5:c.G494A:p.G165E Score=251;Name=lod=14 NA 1q32.3 NA NA NA NA rs1134647 0.82 0.82 0.83 0.830671 0.9076 0.623 0.755 0.9962 0.7955 0.92 0.59 0.77 1 0.858 1 1 T 0.001 B 0.001 B 0.000 N 1.000 P 0.205 N 2.57 T -0.917 T 0.000 T 0.033 1.272 10.15 5.48 0.919 4.959 11.467 1.272297 1.272297 1 0.917442 0.979119 NA 0.87 NA 7.6502914 895 19 3831709 3831709 C T exonic ZFR2 NA nonsynonymous SNV ZFR2:NM_015174:exon4:c.G547A:p.V183M exonic ENSG00000105278 NA nonsynonymous SNV ENSG00000105278:ENST00000262961:exon4:c.G547A:p.V183M,ENSG00000105278:ENST00000438164:exon4:c.G547A:p.V183M NA NA 19p13.3 NA NA NA NA rs2240234 0.21 0.21 0.191 0.258387 0.1998 0.2609 0.1643 0.23 0.4213 0.2 0.21 0.18 0.23 0.2922 0.27 0.2 T 0.319 B 0.03 B 0.938 N 1.000 P 0.69 N 3.13 T -0.943 T 0.000 T 0.014 1.49 10.93 -2.61 -0.426 0.114 4.318 1.489829 1.489829 0.05 0.191427 0.181265 NA 0.283 NA 7.6499064 895 19 1004823 1004823 G A exonic GRIN3B NA synonymous SNV GRIN3B:NM_138690:exon3:c.G1323A:p.A441A exonic ENSG00000116032 NA synonymous SNV ENSG00000116032:ENST00000234389:exon3:c.G1323A:p.A441A NA NA 19p13.3 Score=863;Name=V$E47_01 Name=Pol2 NA Score=236;Name=1110165_0_+_236 rs4806908 0.25 0.25 0.231 0.258986 0.3489 0.0893 0.2205 0.3154 0.2924 0.35 0.07 0.27 0.28 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 -0.985366 NA NA 0.352688 0.322742 NA 0.145 NA 7.6498786 895 18 43329841 43329841 T C exonic SLC14A1 NA synonymous SNV SLC14A1:NM_001146037:exon9:c.T1263C:p.S421S,SLC14A1:NM_015865:exon10:c.T1095C:p.S365S,SLC14A1:NM_001128588:exon11:c.T1263C:p.S421S,SLC14A1:NM_001146036:exon11:c.T1095C:p.S365S exonic ENSG00000141469 NA synonymous SNV ENSG00000141469:ENST00000591541:exon3:c.T207C:p.S69S,ENSG00000141469:ENST00000535474:exon8:c.T699C:p.S233S,ENSG00000141469:ENST00000586142:exon8:c.T1095C:p.S365S,ENSG00000141469:ENST00000402943:exon9:c.T780C:p.S260S,ENSG00000141469:ENST00000436407:exon9:c.T1263C:p.S421S,ENSG00000141469:ENST00000502059:exon9:c.T771C:p.S257S,ENSG00000141469:ENST00000321925:exon10:c.T1095C:p.S365S,ENSG00000141469:ENST00000415427:exon11:c.T1263C:p.S421S Score=516;Name=lod=166 NA 18q12.3 NA NA Name=27 NA rs28898897 0.0014 0.0014 NA 0.00279553 0.006 NA 0.0029 NA 0.0061 0.0013 NA 0.01 NA 0.0045 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 -0.155371 NA NA 0.006395 0.001135 NA 0.014 NA 7.6497716 895 12 78542699 78542699 T C exonic NAV3 NA synonymous SNV NAV3:NM_014903:exon22:c.T4785C:p.N1595N exonic ENSG00000067798 NA synonymous SNV ENSG00000067798:ENST00000550788:exon6:c.T672C:p.N224N,ENSG00000067798:ENST00000266692:exon20:c.T4254C:p.N1418N,ENSG00000067798:ENST00000228327:exon22:c.T4785C:p.N1595N,ENSG00000067798:ENST00000397909:exon22:c.T4785C:p.N1595N,ENSG00000067798:ENST00000536525:exon22:c.T4785C:p.N1595N Score=606;Name=lod=388 NA 12q21.2 NA NA Name=4 NA rs366527 0.39 0.39 0.361 0.365815 0.3419 0.496 0.4726 0.3071 0.2597 0.35 0.48 0.46 0.32 0.3615 0.48 . . . . . . . . 0.000 P . . . . -0.900 T 0.000 T . 1.58 11.24 1.72 0.337 0.670 9.038 1.580206 1.580206 NA 0.314184 0.296909 NA 0.333 NA 7.6490826 895 12 57619362 57619362 G A exonic NXPH4 NA synonymous SNV NXPH4:NM_007224:exon2:c.G759A:p.P253P exonic ENSG00000182379 NA synonymous SNV ENSG00000182379:ENST00000349394:exon2:c.G759A:p.P253P Score=717;Name=lod=1092 NA 12q13.3 Score=891;Name=V$E47_02 NA Name=15 NA rs10783816 0.36 0.36 0.345 0.350839 0.334 0.4752 0.4337 0.3147 0.2301 0.33 0.41 0.4 0.32 0.3547 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.987148 NA NA 0.329767 0.315479 ID=COSM147553;OCCURENCE=1(stomach),2(liver) 0.297 NA 7.6481996 895 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 895 19 44934489 44934489 G A exonic ZNF229 NA nonsynonymous SNV ZNF229:NM_014518:exon6:c.C467T:p.S156F exonic ENSG00000167383 NA nonsynonymous SNV ENSG00000167383:ENST00000291187:exon6:c.C449T:p.S150F,ENSG00000167383:ENST00000588931:exon6:c.C467T:p.S156F NA NA 19q13.31 NA NA NA NA rs2571174 0.86 0.86 0.865 0.88778 0.8887 0.7024 0.9582 0.9728 0.9131 0.89 0.67 0.94 0.98 0.8929 0.98 0.42 T 0.0 B 0.0 B . . 1.000 P 0 N . . -1.042 T 0.000 T 0.083 -0.665 1.088 -6.92 -2.066 -4.169 1.170 -0.664915 NA 0.69 0.903818 0.955733 NA 0.913 NA 7.6479154 895 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 895 2 201521609 201521609 C T exonic AOX1 NA synonymous SNV AOX1:NM_001159:exon27:c.C3120T:p.V1040V exonic ENSG00000138356 NA synonymous SNV ENSG00000138356:ENST00000374700:exon27:c.C3120T:p.V1040V Score=537;Name=lod=203 NA 2q33.1 Score=781;Name=V$PAX2_01 NA NA NA rs114924183 0.0032 0.0032 NA 0.00199681 0.0089 NA 0.0014 NA NA 0.01 NA NA NA 0.0037 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.174547 NA NA 0.007442 0.000454 NA 0.014 NA 7.6466246 895 19 14554394 14554394 G A exonic PKN1 NA synonymous SNV PKN1:NM_002741:exon3:c.G435A:p.A145A,PKN1:NM_213560:exon3:c.G453A:p.A151A exonic ENSG00000123143 NA synonymous SNV ENSG00000123143:ENST00000242783:exon3:c.G435A:p.A145A,ENSG00000123143:ENST00000342216:exon3:c.G453A:p.A151A,ENSG00000123143:ENST00000586557:exon4:c.G471A:p.A157A,ENSG00000123143:ENST00000590097:exon4:c.G471A:p.A157A Score=600;Name=lod=365 NA 19p13.12 NA Name=c-Myc NA NA rs55814382 0.0018 0.0018 0.003 0.00159744 0.006 NA 0.0014 0.0008 NA 0.004 NA 0.0028 NA 0.0061 0.0086 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.469755 1.469755 NA 0.008605 0.001362 NA 0.051 NA 7.6459616 895 3 73453541 73453541 G A exonic PDZRN3 NA synonymous SNV PDZRN3:NM_015009:exon4:c.C924T:p.N308N exonic ENSG00000121440 NA synonymous SNV ENSG00000121440:ENST00000479530:exon2:c.C75T:p.N25N,ENSG00000121440:ENST00000492909:exon2:c.C18T:p.N6N,ENSG00000121440:ENST00000535920:exon2:c.C90T:p.N30N,ENSG00000121440:ENST00000263666:exon4:c.C924T:p.N308N Score=578;Name=lod=299 NA 3p13 Score=786;Name=V$GFI1_01 NA NA NA rs61756474 0.0032 0.0032 0.006 0.00239617 0.0099 NA NA NA 0.002 0.01 NA NA 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 0.743692 NA NA 0.006395 0.001816 ID=COSM1425295;OCCURENCE=1(large_intestine) 0.007 NA 7.6455716 895 5 96518792 96518792 T G intronic RIOK2 NA NA NA exonic ENSG00000058729,ENSG00000251606 NA nonsynonymous SNV ENSG00000058729:ENST00000510384:exon1:c.A104C:p.N35T,ENSG00000251606:ENST00000509481:exon4:c.T113G:p.V38G NA NA 5q15 NA Name=Sin3Ak-20,Mxi1_(bHLH),Oct-2,TBP,Pol2(b),POU2F2,Pol2,HEY1,KAP1,ELF1_(SC-631),NFKB,TAF1,Pol2-4H8 NA NA rs3734010 0.52 0.52 0.476 0.520966 0.501 0.6181 0.5331 0.4228 0.5654 0.51 0.6 0.53 0.46 0.5157 0.6 0 D . . . . . . 1.000 P . . . . -0.925 T 0.000 T 0.054 1.522 11.04 2.67 0.163 0.258 5.325 1.521961 1.521961 NA 0.504651 0.434635 NA 0.507 NA 7.6453157 895 19 14000870 14000870 C T exonic C19orf57 NA nonsynonymous SNV C19orf57:NM_024323:exon6:c.G799A:p.G267R exonic ENSG00000132016 NA nonsynonymous SNV ENSG00000132016:ENST00000586783:exon5:c.G799A:p.G267R,ENSG00000132016:ENST00000346736:exon6:c.G799A:p.G267R,ENSG00000132016:ENST00000454313:exon6:c.G799A:p.G267R NA NA 19p13.12 NA NA NA NA rs2305775 0.35 0.35 0.349 0.382388 0.2117 0.3075 0.232 0.7005 0.3119 0.21 0.34 0.22 0.67 0.2626 0.67 0.6 T 0.948 P 0.743 P 0.394 N 1.000 P 0.55 N 1.51 T -0.936 T 0.000 T 0.059 2.237 13.44 1.72 0.464 -0.199 7.373 2.236897 2.236897 0.4 0.213721 0.618021 NA 0.348 NA 7.6453124 895 2 47698108 47698108 T C exonic MSH2 NA synonymous SNV MSH2:NM_000251:exon11:c.T1666C:p.L556L,MSH2:NM_001258281:exon12:c.T1468C:p.L490L exonic ENSG00000095002 NA synonymous SNV ENSG00000095002:ENST00000233146:exon11:c.T1666C:p.L556L,ENSG00000095002:ENST00000406134:exon11:c.T1666C:p.L556L,ENSG00000095002:ENST00000543555:exon12:c.T1468C:p.L490L Score=524;Name=lod=180 NA 2p21 NA NA NA NA rs61756466 0.0032 0.0032 0.003 0.00219649 0.0089 NA 0.0029 NA NA 0.01 NA 0.0028 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 0.636567 NA NA 0.008038 0.001363 NA NA CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_provided;CLNREVSTAT=exp|single;CLNACC=RCV000030242.2|RCV000126816.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|.;CLNDSDBID=NBK1211:C0009405:315058005|. 7.6452286 896 1 247875415 247875415 A G exonic OR6F1 NA nonsynonymous SNV OR6F1:NM_001005286:exon1:c.T643C:p.F215L exonic ENSG00000169214 NA nonsynonymous SNV ENSG00000169214:ENST00000302084:exon1:c.T643C:p.F215L NA NA 1q44 NA NA NA NA rs2282316 0.32 0.32 0.348 0.352037 0.2058 0.2401 0.2017 0.6929 0.2638 0.2 0.23 0.24 0.7 0.2534 0.7 0.55 T 0.0 B 0.0 B 0.004 N 1.000 P -1.635 N 9.09 T -0.882 T 0.000 T 0.028 -1.996 0.007 -1.83 -0.547 -1.023 2.261 -1.995955 NA 1 0.229767 0.604403 ID=COSM146849;OCCURENCE=1(stomach) 0.384 NA 7.6443664 896 12 53457585 53457585 C T exonic TENC1 NA synonymous SNV TENC1:NM_015319:exon29:c.C4179T:p.L1393L,TENC1:NM_170754:exon29:c.C4149T:p.L1383L,TENC1:NM_198316:exon29:c.C3777T:p.L1259L exonic ENSG00000111077 NA synonymous SNV ENSG00000111077:ENST00000314250:exon29:c.C4149T:p.L1383L,ENSG00000111077:ENST00000314276:exon29:c.C4179T:p.L1393L,ENSG00000111077:ENST00000379902:exon29:c.C3777T:p.L1259L,ENSG00000111077:ENST00000546602:exon29:c.C3858T:p.L1286L,ENSG00000111077:ENST00000552570:exon29:c.C4143T:p.L1381L,ENSG00000111077:ENST00000451358:exon30:c.C4119T:p.L1373L,ENSG00000111077:ENST00000549700:exon30:c.C3954T:p.L1318L Score=623;Name=lod=455 NA 12q13.13 NA Name=CTCF NA NA rs117928258 0.0046 0.0046 0.002 0.00319489 0.0089 NA 0.0072 NA 0.002 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 0.851055 NA NA 0.008023 0.001816 NA NA NA 7.6438436 896 1 40150156 40150156 G A exonic HPCAL4 NA synonymous SNV HPCAL4:NM_016257:exon2:c.C120T:p.S40S exonic ENSG00000116983 NA synonymous SNV ENSG00000116983:ENST00000372844:exon2:c.C120T:p.S40S Score=695;Name=lod=888 NA 1p34.2 Score=749;Name=V$HEN1_02 NA NA Score=69;Name=46053_0_+_69 rs9662128 0.33 0.33 0.348 0.355831 0.3519 0.2698 0.2406 0.4811 0.3609 0.32 0.28 0.29 0.45 0.3393 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.280914 1.280914 NA 0.331977 0.458012 ID=COSM146475;OCCURENCE=1(stomach) 0.413 NA 7.6434896 896 19 50385373 50385373 G A exonic TBC1D17 NA synonymous SNV TBC1D17:NM_001168222:exon5:c.G504A:p.L168L,TBC1D17:NM_024682:exon6:c.G603A:p.L201L exonic ENSG00000104946 NA synonymous SNV ENSG00000104946:ENST00000535102:exon5:c.G504A:p.L168L,ENSG00000104946:ENST00000221543:exon6:c.G603A:p.L201L Score=573;Name=lod=283 NA 19q13.33 Score=802;Name=V$COMP1_01 NA NA NA rs35008717 0.0032 0.0032 NA 0.00259585 0.008 NA 0.0072 NA NA 0.01 NA 0.01 NA 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 1.478886 1.478886 NA 0.008256 0.001589 NA NA NA 7.6434106 896 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 896 11 67433869 67433869 C T exonic ALDH3B2 NA nonsynonymous SNV ALDH3B2:NM_000695:exon5:c.G155A:p.S52N,ALDH3B2:NM_001031615:exon5:c.G155A:p.S52N exonic ENSG00000132746 NA nonsynonymous SNV ENSG00000132746:ENST00000349015:exon5:c.G155A:p.S52N,ENSG00000132746:ENST00000525827:exon5:c.G155A:p.S52N,ENSG00000132746:ENST00000528756:exon5:c.G155A:p.S52N,ENSG00000132746:ENST00000530069:exon5:c.G155A:p.S52N Score=358;Name=lod=38 NA 11q13.2 NA NA NA NA rs1551888 0.88 0.88 0.875 0.86861 0.8877 0.9097 0.9193 0.7201 0.9714 0.89 0.94 0.91 0.77 0.9029 0.94 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.465 N 0.22 T -0.950 T 0.000 T 0.289 -0.416 2.06 4.2 0.761 4.871 9.659 -0.415668 NA 1 0.900093 0.751591 NA 0.899 NA 7.6426404 896 20 57829301 57829301 T C exonic ZNF831 NA nonsynonymous SNV ZNF831:NM_178457:exon5:c.T4537C:p.S1513P exonic ENSG00000124203 NA nonsynonymous SNV ENSG00000124203:ENST00000371030:exon5:c.T4537C:p.S1513P NA NA 20q13.32 NA NA Name=2 NA rs259956 0.6 0.6 0.574 0.618211 0.5606 0.9107 0.6081 0.3116 0.7975 0.57 0.91 0.57 0.3 0.5924 0.91 1 T 0.0 B 0.0 B 0.944 N 1.000 P -1.06 N 3.53 T -0.976 T 0.000 T 0.013 -0.592 1.351 -2.98 -0.195 -0.381 1.574 -0.591513 NA 0.46 0.537791 0.336557 ID=COSM1412769;OCCURENCE=1(large_intestine) 0.486 NA 7.6425424 896 11 67430762 67430762 T C exonic ALDH3B2 NA nonsynonymous SNV ALDH3B2:NM_000695:exon10:c.A1082G:p.H361R,ALDH3B2:NM_001031615:exon10:c.A1082G:p.H361R exonic ENSG00000132746 NA nonsynonymous SNV ENSG00000132746:ENST00000349015:exon10:c.A1082G:p.H361R,ENSG00000132746:ENST00000530069:exon10:c.A1082G:p.H361R Score=358;Name=lod=38 NA 11q13.2 NA NA NA NA rs1551886 0.88 0.88 0.856 0.868011 0.8877 0.9097 0.9193 0.7179 0.9714 0.89 0.94 0.91 0.78 0.9042 0.94 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.895 N -1.11 T -1.035 T 0.000 T 0.14 -0.545 1.528 -6.26 -2.051 0.410 2.231 -0.545187 NA 1 0.90021 0.753182 NA 0.891 NA 7.6412234 896 2 27282229 27282229 T A exonic AGBL5 NA synonymous SNV AGBL5:NM_001035507:exon11:c.T2046A:p.S682S,AGBL5:NM_021831:exon11:c.T2046A:p.S682S exonic ENSG00000084693 NA synonymous SNV ENSG00000084693:ENST00000441931:exon1:c.T96A:p.S32S,ENSG00000084693:ENST00000323064:exon11:c.T2046A:p.S682S,ENSG00000084693:ENST00000360131:exon11:c.T2046A:p.S682S,ENSG00000084693:ENST00000487078:exon11:c.T2046A:p.S682S Score=679;Name=lod=769 NA 2p23.3 Score=952;Name=V$ZID_01 NA NA NA rs34931609 0.01 0.01 0.01 0.0161741 0.007 NA 0.0159 0.0461 0.002 0.01 NA 0.01 0.03 0.0091 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 1.132418 NA NA 0.009535 0.039492 NA 0.022 NA 7.6410316 896 6 137540423 137540423 C T exonic IFNGR1 NA synonymous SNV IFNGR1:NM_000416:exon1:c.G42A:p.V14V exonic ENSG00000027697 NA synonymous SNV ENSG00000027697:ENST00000367739:exon1:c.G42A:p.V14V,ENSG00000027697:ENST00000458076:exon1:c.G42A:p.V14V NA NA 6q23.3 NA Name=HEY1,TAF1,Pol2-4H8,GABP,POU2F2,Pol2,TBP,TR4,eGFP-JunD,Sin3Ak-20,Oct-2 NA NA rs17181471 0.0046 0.0046 NA 0.00439297 0.0119 NA 0.0086 0.0015 0.002 0.01 NA 0.01 NA 0.0072 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 0.985559 NA NA 0.006744 0.002272 NA NA CLINSIG=probable-non-pathogenic;CLNDBN=Interferon_gamma_receptor_deficiency;CLNREVSTAT=single;CLNACC=RCV000030043.1;CLNDSDB=MedGen;CLNDSDBID=C1112429 7.6408226 896 11 5566051 5566051 C A exonic OR52H1 NA nonsynonymous SNV OR52H1:NM_001005289:exon1:c.G703T:p.G235C exonic ENSG00000181616 NA nonsynonymous SNV ENSG00000181616:ENST00000322653:exon1:c.G703T:p.G235C NA NA 11p15.4 NA NA NA NA rs1995157 0.41 0.41 0.392 0.38139 0.5775 0.0853 0.513 0.4493 0.2996 0.58 0.1 0.51 0.44 0.5101 0.61 0.1 T 0.137 B 0.062 B 0.695 N 1.000 P 0.935 L 8.7 T -1.134 T 0.000 T 0.057 -1.334 0.031 5.37 1.277 0.044 8.921 -1.333725 NA 0.08 0.60519 0.4607 NA 0.362 NA 7.6405434 896 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 896 9 139617662 139617662 T C exonic FAM69B NA synonymous SNV FAM69B:NM_152421:exon5:c.T732C:p.L244L exonic ENSG00000165716 NA synonymous SNV ENSG00000165716:ENST00000371691:exon3:c.T471C:p.L157L,ENSG00000165716:ENST00000371692:exon5:c.T732C:p.L244L Score=309;Name=lod=24 NA 9q34.3 NA Name=Pol2,ZNF263,ZBTB33 Name=57 NA rs11849 0.32 0.32 0.306 0.336462 0.341 0.1835 0.3818 0.4175 0.3476 0.35 0.16 0.39 0.41 0.3448 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009501 NA NA 0.341866 0.414811 NA 0.362 NA 7.6390006 896 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 896 13 43469157 43469157 G A exonic EPSTI1 NA synonymous SNV EPSTI1:NM_033255:exon10:c.C903T:p.S301S,EPSTI1:NM_001002264:exon11:c.C936T:p.S312S exonic ENSG00000133106 NA synonymous SNV ENSG00000133106:ENST00000313624:exon10:c.C903T:p.S301S,ENSG00000133106:ENST00000313640:exon11:c.C936T:p.S312S,ENSG00000133106:ENST00000398762:exon11:c.C936T:p.S312S NA NA 13q14.11 Score=828;Name=V$OCT1_04 Name=STAT1,p300,AP-2alpha,AP-2gamma Name=100 NA rs1128105 0.43 0.43 0.401 0.460264 0.3151 0.62 0.4424 0.3986 0.5409 0.3 0.62 0.44 0.38 0.3802 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278631 NA NA 0.332674 0.378121 NA 0.384 NA 7.6386926 896 13 49794650 49794650 C A exonic MLNR NA synonymous SNV MLNR:NM_001507:exon1:c.C177A:p.T59T exonic ENSG00000102539 NA synonymous SNV ENSG00000102539:ENST00000218721:exon1:c.C177A:p.T59T,ENSG00000102539:ENST00000398307:exon1:c.C177A:p.T59T Score=746;Name=lod=1434 NA 13q14.2 NA Name=CTCF,CTCF_(SC-5916),Max,CTCFL_(SC-98982) Name=17 NA rs9568169 0.34 0.34 0.342 0.38139 0.2932 0.4702 0.3012 0.3162 0.5256 0.28 0.48 0.33 0.29 0.424 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.897226 NA NA 0.310814 0.284158 ID=COSM432466;OCCURENCE=1(breast) 0.167 NA 7.6386526 896 11 5566489 5566489 C T exonic OR52H1 NA nonsynonymous SNV OR52H1:NM_001005289:exon1:c.G265A:p.A89T exonic ENSG00000181616 NA nonsynonymous SNV ENSG00000181616:ENST00000322653:exon1:c.G265A:p.A89T Score=313;Name=lod=25 NA 11p15.4 NA NA NA NA rs10769054 0.41 0.41 0.398 0.38738 0.5775 0.0853 0.5144 0.4713 0.2996 0.58 0.1 0.51 0.45 0.512 0.61 0.19 T 0.0 B 0.0 B 0.376 N 0.194 P -0.455 N 4.08 T -0.979 T 0.000 T 0.014 1.119 9.564 2.04 0.088 -0.302 5.302 1.119258 NA 0.3 0.605539 0.464107 NA 0.362 NA 7.6382944 896 19 12865821 12865821 C T exonic BEST2 NA synonymous SNV BEST2:NM_017682:exon4:c.C612T:p.N204N exonic ENSG00000039987 NA synonymous SNV ENSG00000039987:ENST00000042931:exon4:c.C612T:p.N204N,ENSG00000039987:ENST00000549706:exon5:c.C612T:p.N204N,ENSG00000039987:ENST00000553030:exon5:c.C612T:p.N204N Score=521;Name=lod=174 NA 19p13.2 Score=791;Name=V$PAX2_01 NA NA NA rs17706412 0.01 0.01 NA 0.00878594 0.006 NA 0.0504 NA 0.0031 0.01 NA 0.03 NA 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 0.917847 NA NA 0.007461 0.000961 NA NA NA 7.6373056 896 7 65425894 65425894 A G exonic GUSB NA nonsynonymous SNV GUSB:NM_000181:exon12:c.T1946C:p.L649P exonic ENSG00000169919 NA nonsynonymous SNV ENSG00000169919:ENST00000421103:exon10:c.T1508C:p.L503P,ENSG00000169919:ENST00000345660:exon11:c.T1793C:p.L598P,ENSG00000169919:ENST00000304895:exon12:c.T1946C:p.L649P NA NA 7q11.21 NA NA NA NA rs9530 0.58 0.58 0.531 0.580671 0.5636 0.8323 0.562 0.3457 0.6697 0.58 0.84 0.57 0.29 0.5796 0.84 0.21 T 0.0 B 0.001 B 0.900 N 1.000 P 0.415 N -3.51 D -0.917 T 0.000 T 0.081 -1.783 0.01 -0.066 -0.151 -0.047 9.884 -1.783147 NA 0.31 0.553023 0.369496 NA 0.594 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078327.1;CLNDSDB=.;CLNDSDBID=. 7.6371104 896 19 47278859 47278859 C G exonic SLC1A5 NA nonsynonymous SNV SLC1A5:NM_001145145:exon7:c.G928C:p.V310L,SLC1A5:NM_001145144:exon8:c.G850C:p.V284L,SLC1A5:NM_005628:exon8:c.G1534C:p.V512L exonic ENSG00000105281 NA nonsynonymous SNV ENSG00000105281:ENST00000434726:exon7:c.G928C:p.V310L,ENSG00000105281:ENST00000594991:exon7:c.G1006C:p.V336L,ENSG00000105281:ENST00000412532:exon8:c.G850C:p.V284L,ENSG00000105281:ENST00000542575:exon8:c.G1534C:p.V512L NA NA 19q13.32 NA NA NA NA rs3027961 0.14 0.14 0.156 0.131789 0.2306 0.001 0.1254 0.146 0.1503 0.24 0.0035 0.15 0.14 0.2035 0.26 1 T 0.001 B 0.001 B 0.086 N 1.000 P 0 N 0.81 T -1.069 T 0.000 T 0.046 1.734 11.76 -2.11 -0.280 -0.180 6.102 1.734189 1.734189 0.32 0.262209 0.174308 NA 0.174 NA 7.6370244 896 19 46133251 46133251 C T exonic EML2 NA synonymous SNV EML2:NM_012155:exon7:c.G564A:p.S188S,EML2:NM_001193268:exon10:c.G1167A:p.S389S,EML2:NM_001193269:exon10:c.G1005A:p.S335S exonic ENSG00000125746 NA nonsynonymous SNV ENSG00000125746:ENST00000586195:exon5:c.G284A:p.R95Q NA NA 19q13.32 Score=814;Name=V$ARNT_02 NA Name=6 NA rs7251952 0.12 0.12 0.124 0.128395 0.1074 0.1032 0.1282 0.1611 0.1319 0.1 0.09 0.13 0.19 0.1243 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 0.731306 NA NA 0.131279 0.149342 NA 0.072 NA 7.637021 896 17 15234895 15234895 C T exonic TEKT3 NA nonsynonymous SNV TEKT3:NM_031898:exon3:c.G8A:p.R3H exonic ENSG00000125409 NA nonsynonymous SNV ENSG00000125409:ENST00000338696:exon2:c.G8A:p.R3H,ENSG00000125409:ENST00000395931:exon2:c.G8A:p.R3H,ENSG00000125409:ENST00000536146:exon2:c.G8A:p.R3H,ENSG00000125409:ENST00000539316:exon2:c.G8A:p.R3H,ENSG00000125409:ENST00000395930:exon3:c.G8A:p.R3H,ENSG00000125409:ENST00000543896:exon4:c.G8A:p.R3H NA NA 17p12 NA NA NA NA rs7226363 0.2 0.2 0.207 0.195088 0.2356 0.2212 0.1686 0.1513 0.2045 0.21 0.25 0.18 0.14 0.2204 0.25 0.18 T 0.208 B 0.009 B 0.763 N 1.000 P 0 N 4.15 T -1.052 T 0.000 T 0.232 0.954 8.891 -11.0 -2.238 0.810 1.010 0.954112 NA 0.33 0.241512 0.157966 NA 0.116 NA 7.6358214 896 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 897 18 44015315 44015315 A G exonic RNF165 NA synonymous SNV RNF165:NM_152470:exon3:c.A441G:p.Q147Q exonic ENSG00000141622 NA synonymous SNV ENSG00000141622:ENST00000269439:exon3:c.A441G:p.Q147Q,ENSG00000141622:ENST00000593230:exon3:c.A240G:p.Q80Q Score=618;Name=lod=433 NA 18q21.1 Score=835;Name=V$HAND1E47_01 NA NA NA rs139779598 0.01 0.01 0.005 0.00599042 0.0159 NA 0.0159 0.0008 0.002 0.02 NA 0.02 0.002 0.0058 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.318269 1.318269 NA 0.010814 0.002043 NA NA NA 7.6341526 897 6 34803947 34803947 C T exonic UHRF1BP1 NA synonymous SNV UHRF1BP1:NM_017754:exon8:c.C855T:p.A285A exonic ENSG00000065060 NA synonymous SNV ENSG00000065060:ENST00000192788:exon8:c.C855T:p.A285A,ENSG00000065060:ENST00000452449:exon8:c.C855T:p.A285A Score=485;Name=lod=125 NA 6p21.31 NA Name=PU.1 Name=4 NA rs4259246 0.46 0.46 0.443 0.461462 0.335 0.4633 0.3069 0.7723 0.2791 0.33 0.46 0.32 0.76 0.357 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.056148 NA NA 0.340823 0.656481 NA 0.413 NA 7.6338436 897 3 126194076 126194076 T C exonic ZXDC NA synonymous SNV ZXDC:NM_001040653:exon1:c.A633G:p.P211P,ZXDC:NM_025112:exon1:c.A633G:p.P211P exonic ENSG00000070476 NA synonymous SNV ENSG00000070476:ENST00000336332:exon1:c.A633G:p.P211P,ENSG00000070476:ENST00000389709:exon1:c.A633G:p.P211P Score=670;Name=lod=703 NA 3q21.3 Score=957;Name=V$AP2REP_01 Name=Pol2,CTCF Name=81 NA rs812367 0.56 0.56 0.476 0.547324 0.673 0.5724 0.5749 0.2753 0.7403 0.68 0.59 0.6 0.3 0.6771 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.468582 1.468582 NA 0.682778 0.369956 NA 0.514 NA 7.6337886 897 8 124142489 124142489 T C exonic WDR67 NA synonymous SNV WDR67:NM_001145088:exon16:c.T2322C:p.D774D,WDR67:NM_145647:exon16:c.T2322C:p.D774D exonic ENSG00000156787 NA synonymous SNV ENSG00000156787:ENST00000518805:exon9:c.T984C:p.D328D,ENSG00000156787:ENST00000521676:exon15:c.T1953C:p.D651D,ENSG00000156787:ENST00000522420:exon15:c.T2007C:p.D669D,ENSG00000156787:ENST00000287380:exon16:c.T2322C:p.D774D,ENSG00000156787:ENST00000309336:exon16:c.T2322C:p.D774D,ENSG00000156787:ENST00000327098:exon16:c.T2322C:p.D774D Score=321;Name=lod=27 NA 8q24.13 NA Name=CEBPB,p300_(N-15) Name=54 NA rs2272724 0.33 0.33 0.307 0.335264 0.337 0.1825 0.4337 0.4244 0.3006 0.33 0.2 0.4 0.43 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 -0.730899 NA NA 0.346047 0.426691 NA 0.384 NA 7.6336196 897 10 90681048 90681048 C T exonic STAMBPL1 NA synonymous SNV STAMBPL1:NM_020799:exon9:c.C1050T:p.P350P exonic ENSG00000138134 NA synonymous SNV ENSG00000138134:ENST00000371922:exon4:c.C552T:p.P184P,ENSG00000138134:ENST00000371924:exon8:c.C1050T:p.P350P,ENSG00000138134:ENST00000371926:exon9:c.C1050T:p.P350P,ENSG00000138134:ENST00000371927:exon9:c.C1050T:p.P350P NA NA 10q23.31 NA Name=GATA3_(SC-268),GATA-2 Name=33 NA rs34083181 0.02 0.02 0.023 0.0265575 0.0089 0.0387 0.0101 0.0272 0.0429 0.01 0.04 0.01 0.03 0.0162 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 0.326984 NA NA 0.008372 0.019746 NA 0.014 NA 7.6331946 897 17 64216815 64216815 C T exonic APOH NA nonsynonymous SNV APOH:NM_000042:exon5:c.G461A:p.R154H exonic ENSG00000091583 NA nonsynonymous SNV ENSG00000091583:ENST00000205948:exon5:c.G461A:p.R154H,ENSG00000091583:ENST00000581797:exon5:c.G281A:p.R94H,ENSG00000091583:ENST00000577982:exon6:c.G461A:p.R154H NA NA 17q24.2 NA NA NA NA rs8178847 0.08 0.08 0.079 0.0702875 0.0696 0.0516 0.0418 0.115 0.0501 0.07 0.06 0.04 0.13 0.0658 0.13 0.24 T 0.728 P 0.064 B 0.436 N 1.000 P 0 N -0.04 T -1.108 T 0.001 T 0.315 -0.045 3.786 1.59 0.492 0.005 4.860 -0.0447 NA 0.13 0.065116 0.090104 NA 0.065 NA 7.6328174 897 11 1081757 1081757 G C exonic MUC2 NA nonsynonymous SNV MUC2:NM_002457:exon13:c.G1685C:p.S562T exonic ENSG00000198788 NA nonsynonymous SNV ENSG00000198788:ENST00000359061:exon13:c.G1685C:p.S562T,ENSG00000198788:ENST00000441003:exon13:c.G1685C:p.S562T NA NA 11p15.5 NA Name=ERalpha_a,CTCF NA NA rs57737240 0.32 0.32 0.285 0.367013 0.2197 0.3889 0.366 0.4266 0.4162 0.21 0.4 0.3 0.38 0.2794 0.4 1 T 0.119 B 0.119 B 0.713 U 1.000 P . . 2.67 T -0.928 T 0.000 T 0.027 -0.839 0.576 -0.045 -0.239 0.085 6.608 -0.83912 NA 0.37 0.204616 0.392076 NA 0.254 NA 7.6296174 897 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 897 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 897 13 46708291 46708291 T C exonic LCP1 NA nonsynonymous SNV LCP1:NM_002298:exon14:c.A1597G:p.K533E exonic ENSG00000136167 NA nonsynonymous SNV ENSG00000136167:ENST00000435666:exon3:c.A304G:p.K102E,ENSG00000136167:ENST00000323076:exon14:c.A1597G:p.K533E,ENSG00000136167:ENST00000398576:exon17:c.A1597G:p.K533E NA NA 13q14.13 NA NA NA NA rs4941543 0.88 0.88 0.86 0.876597 0.8966 0.9077 0.915 0.7413 0.9796 0.89 0.91 0.92 0.8 0.9058 0.92 0.07 T 0.0 B 0.004 B 0.061 N 1.000 P -0.345 N -3.46 D -0.864 T 0.000 T 0.028 0.375 6.034 4.19 0.129 2.611 13.234 0.374567 NA 0.14 0.902558 0.79823 NA 0.812 NA 7.6283754 897 16 84212571 84212571 C A exonic TAF1C NA synonymous SNV TAF1C:NM_001243158:exon11:c.G1590T:p.R530R,TAF1C:NM_001243157:exon12:c.G1590T:p.R530R,TAF1C:NM_001243160:exon12:c.G1155T:p.R385R,TAF1C:NM_001243159:exon14:c.G1359T:p.R453R,TAF1C:NM_005679:exon14:c.G2586T:p.R862R,TAF1C:NM_001243156:exon15:c.G2508T:p.R836R,TAF1C:NM_139353:exon15:c.G2304T:p.R768R exonic ENSG00000103168 NA synonymous SNV ENSG00000103168:ENST00000570117:exon11:c.G1590T:p.R530R,ENSG00000103168:ENST00000378541:exon13:c.G2586T:p.R862R,ENSG00000103168:ENST00000567759:exon14:c.G2586T:p.R862R,ENSG00000103168:ENST00000341690:exon15:c.G2304T:p.R768R,ENSG00000103168:ENST00000541676:exon15:c.G2307T:p.R769R,ENSG00000103168:ENST00000566732:exon15:c.G2508T:p.R836R Score=451;Name=lod=91 NA 16q24.1 Score=703;Name=V$LUN1_01 Name=CTCF NA NA rs1804500 0.31 0.31 0.286 0.273962 0.341 0.372 0.4092 0.0923 0.2536 0.34 0.42 0.35 0.1 0.3435 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.291979 NA NA 0.35407 0.133864 ID=COSM148131;OCCURENCE=1(stomach) 0.225 NA 7.6280966 897 3 13395579 13395579 C A exonic NUP210 NA nonsynonymous SNV NUP210:NM_024923:exon17:c.G2357T:p.R786L exonic ENSG00000132182 NA nonsynonymous SNV ENSG00000132182:ENST00000254508:exon17:c.G2357T:p.R786L NA NA 3p25.1 NA NA NA NA rs2280084 0.57 0.57 0.613 0.57508 0.5467 0.3998 0.4452 0.8971 0.4417 0.53 0.42 0.48 0.87 0.592 0.87 0.4 T 0.0 B 0.0 B 0.036 N 1.000 P -1.265 N 2.15 T -1.033 T 0.000 T 0.039 -0.485 1.769 4.25 0.938 3.340 9.746 -0.484919 NA 0.49 0.567388 0.831744 ID=COSM445629;OCCURENCE=1(breast) 0.725 NA 7.6272454 897 17 4009040 4009040 G A exonic ZZEF1 NA synonymous SNV ZZEF1:NM_015113:exon7:c.C1341T:p.F447F exonic ENSG00000074755 NA synonymous SNV ENSG00000074755:ENST00000381638:exon7:c.C1341T:p.F447F Score=564;Name=lod=261 NA 17p13.2 NA NA Name=5 NA rs143093880 0.01 0.01 0.005 0.00599042 0.0199 NA 0.0101 0.0008 0.002 0.01 NA 0.01 0.002 0.0082 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 1.258095 1.258095 NA 0.011395 0.002043 NA 0.014 NA 7.6271716 897 7 138601572 138601572 C T exonic KIAA1549 NA nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.G2800A:p.D934N,KIAA1549:NM_020910:exon2:c.G2800A:p.D934N exonic ENSG00000122778 NA nonsynonymous SNV ENSG00000122778:ENST00000242365:exon1:c.G2650A:p.D884N,ENSG00000122778:ENST00000422774:exon2:c.G2800A:p.D934N,ENSG00000122778:ENST00000440172:exon2:c.G2800A:p.D934N NA NA 7q34 NA NA NA NA rs2150283 0.03 0.03 0.032 0.0529153 0.0706 0.001 0.0245 0.0257 0.1452 0.07 NA 0.03 0.01 0.0669 0.07 0.47 T 0.89 P 0.128 B 0.289 N 1.000 N 0.55 N 1.98 T -1.035 T 0.002 T 0.019 0.775 8.095 0.311 -0.044 -0.596 3.465 0.775485 NA 0.06 0.069223 0.028992 NA 0.007 NA 7.6266104 898 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 898 1 159923111 159923111 T G exonic SLAMF9 NA nonsynonymous SNV SLAMF9:NM_001146172:exon2:c.A379C:p.I127L,SLAMF9:NM_033438:exon2:c.A379C:p.I127L exonic ENSG00000162723 NA nonsynonymous SNV ENSG00000162723:ENST00000368092:exon2:c.A379C:p.I127L,ENSG00000162723:ENST00000368093:exon2:c.A379C:p.I127L NA NA 1q23.2 NA NA NA NA rs2789417 0.9 0.9 0.886 0.890176 0.8966 1 0.9409 0.7474 0.9274 0.89 1 0.94 0.77 0.903 1 . . 0.0 B 0.001 B 0.000 N 1.000 P -2.955 N 2.08 T -0.970 T 0.003 T 0.112 -0.357 2.317 5.28 1.239 2.161 11.471 -0.356628 NA 1 0.91093 0.756468 NA 0.913 NA 7.6228034 898 10 13782517 13782517 G A exonic FRMD4A NA synonymous SNV FRMD4A:NM_018027:exon10:c.C609T:p.I203I exonic ENSG00000151474 NA synonymous SNV ENSG00000151474:ENST00000358621:exon8:c.C564T:p.I188I,ENSG00000151474:ENST00000264546:exon9:c.C708T:p.I236I,ENSG00000151474:ENST00000342409:exon9:c.C657T:p.I219I,ENSG00000151474:ENST00000378503:exon9:c.C609T:p.I203I,ENSG00000151474:ENST00000357447:exon10:c.C609T:p.I203I Score=455;Name=lod=94 NA 10p13 NA NA Name=11 NA rs10508466 0.01 0.01 0.005 0.00339457 0.0159 NA 0.0014 NA NA 0.02 NA NA 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 1.020164 NA NA 0.01593 0.000908 NA NA NA 7.6218366 898 2 202625615 202625615 C T exonic ALS2 NA nonsynonymous SNV ALS2:NM_001135745:exon4:c.G1102A:p.V368M,ALS2:NM_020919:exon4:c.G1102A:p.V368M exonic ENSG00000003393 NA nonsynonymous SNV ENSG00000003393:ENST00000264276:exon4:c.G1102A:p.V368M,ENSG00000003393:ENST00000467448:exon4:c.G1102A:p.V368M NA NA 2q33.1 NA NA NA NA rs3219156 0.9 0.9 0.893 0.896565 0.9026 1 0.9251 0.7564 0.953 0.91 1 0.92 0.75 0.9106 1 0.29 T 0.006 B 0.009 B 0.335 N 1.000 P -0.41 N 0.77 T -0.997 T 0.000 T 0.035 -0.555 1.491 -3.78 -1.803 -2.357 8.714 -0.554625 NA 0.11 0.898358 0.78169 NA 0.855 NA 7.6217754 898 5 140553581 140553581 G C exonic PCDHB7 NA nonsynonymous SNV PCDHB7:NM_018940:exon1:c.G1165C:p.V389L exonic ENSG00000113212 NA nonsynonymous SNV ENSG00000113212:ENST00000231137:exon1:c.G1165C:p.V389L Score=361;Name=lod=39 NA 5q31.3 NA NA NA NA rs2910313 0.61 0.61 0.612 0.627396 0.5477 0.6607 0.6369 0.6891 0.5849 0.55 0.66 0.58 0.68 0.5942 0.68 1 T 0.0 B 0.001 B . . 1.000 P -1.025 N 0.72 T -0.916 T 0.000 T 0.022 -1.067 0.176 2.73 0.096 -0.008 10.046 -1.06657 NA 1 0.569767 0.665683 ID=COSM1434230;OCCURENCE=1(large_intestine) 0.638 NA 7.6216664 898 2 69300191 69300191 T C exonic ANTXR1 NA synonymous SNV ANTXR1:NM_018153:exon6:c.T450C:p.D150D,ANTXR1:NM_032208:exon6:c.T450C:p.D150D,ANTXR1:NM_053034:exon6:c.T450C:p.D150D exonic ENSG00000169604 NA synonymous SNV ENSG00000169604:ENST00000303714:exon6:c.T450C:p.D150D,ENSG00000169604:ENST00000409349:exon6:c.T450C:p.D150D,ENSG00000169604:ENST00000409829:exon6:c.T450C:p.D150D Score=599;Name=lod=362 NA 2p13.3 Score=803;Name=V$PBX1_02 NA NA NA rs77687153 0.01 0.01 0.006 0.00499201 0.0179 NA 0.0072 0.0008 0.001 0.01 NA 0.01 0.0041 0.0115 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.305788 1.305788 NA 0.015814 0.002951 NA 0.014 NA 7.6214526 898 19 6454367 6454367 G A exonic SLC25A23 NA synonymous SNV SLC25A23:NM_024103:exon6:c.C762T:p.P254P exonic ENSG00000125648 NA synonymous SNV ENSG00000125648:ENST00000601322:exon1:c.C21T:p.P7P,ENSG00000125648:ENST00000414491:exon2:c.C213T:p.P71P,ENSG00000125648:ENST00000301454:exon6:c.C762T:p.P254P,ENSG00000125648:ENST00000334510:exon6:c.C762T:p.P254P,ENSG00000125648:ENST00000264088:exon7:c.C903T:p.P301P NA NA 19p13.3 Score=792;Name=V$MEF2_03 Name=SETDB1,KAP1 NA NA rs10402833 0.01 0.01 0.007 0.0183706 0.0099 NA 0.0043 0.0318 0.0378 0.01 NA 0.01 0.02 0.0175 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 -1.415541 NA NA 0.01814 0.029278 NA NA NA 7.6211266 898 1 17657616 17657616 T C exonic PADI4 NA nonsynonymous SNV PADI4:NM_012387:exon2:c.T245C:p.V82A exonic ENSG00000159339 NA nonsynonymous SNV ENSG00000159339:ENST00000375448:exon2:c.T245C:p.V82A,ENSG00000159339:ENST00000375453:exon2:c.T245C:p.V82A NA NA 1p36.13 NA NA NA NA rs11203367 0.56 0.56 0.512 0.533347 0.5726 0.5635 0.5476 0.4796 0.5245 0.59 0.59 0.53 0.49 0.5641 0.59 1 T 0.0 B 0.0 B 0.173 N 1.000 P -1.87 N 3.24 T -0.959 T 0.000 T 0.014 -0.113 3.446 4.66 0.846 1.638 9.012 -0.11309 NA 0.94 0.576395 0.508852 NA 0.449 NA 7.6202384 898 16 56533804 56533804 T G exonic BBS2 NA synonymous SNV BBS2:NM_031885:exon12:c.A1413C:p.V471V exonic ENSG00000125124 NA synonymous SNV ENSG00000125124:ENST00000245157:exon12:c.A1413C:p.V471V,ENSG00000125124:ENST00000568104:exon12:c.A1413C:p.V471V Score=532;Name=lod=193 NA 16q12.2 NA NA NA NA rs35294865 0.01 0.01 0.007 0.00459265 0.0169 NA 0.0058 0.0015 NA 0.02 NA 0.01 0.0041 0.0126 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 1.448413 1.448413 NA 0.016977 0.003185 NA 0.007 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082284.1;CLNDSDB=.;CLNDSDBID=. 7.6201896 898 1 17657534 17657534 G A exonic PADI4 NA nonsynonymous SNV PADI4:NM_012387:exon2:c.G163A:p.G55S exonic ENSG00000159339 NA nonsynonymous SNV ENSG00000159339:ENST00000375448:exon2:c.G163A:p.G55S,ENSG00000159339:ENST00000375453:exon2:c.G163A:p.G55S NA NA 1p36.13 NA NA NA NA rs11203366 0.55 0.55 0.517 0.524561 0.5755 0.5635 0.5432 0.4508 0.5184 0.59 0.59 0.53 0.46 0.5612 0.59 1 T 0.0 B 0.001 B 0.900 N 1.000 P -0.405 N 3.29 T -0.912 T 0.000 T 0.022 -0.168 3.181 -10.9 -1.960 -1.530 4.291 -0.167802 NA 0.91 0.576512 0.484567 NA 0.435 NA 7.6201214 898 2 220366272 220366272 C T exonic GMPPA NA synonymous SNV GMPPA:NM_013335:exon4:c.C213T:p.A71A,GMPPA:NM_205847:exon4:c.C213T:p.A71A exonic ENSG00000144591 NA synonymous SNV ENSG00000144591:ENST00000435316:exon3:c.C108T:p.A36A,ENSG00000144591:ENST00000313597:exon4:c.C213T:p.A71A,ENSG00000144591:ENST00000341142:exon4:c.C213T:p.A71A,ENSG00000144591:ENST00000358215:exon4:c.C213T:p.A71A,ENSG00000144591:ENST00000373908:exon4:c.C213T:p.A71A,ENSG00000144591:ENST00000373917:exon4:c.C213T:p.A71A,ENSG00000144591:ENST00000443704:exon4:c.C213T:p.A71A,ENSG00000144591:ENST00000455657:exon4:c.C213T:p.A71A NA NA 2q35 NA Name=c-Jun,STAT1,eGFP-JunD,STAT3 Name=6 NA rs41272703 0.01 0.01 0.003 0.00399361 0.0179 NA NA 0.0015 NA 0.03 NA 0.0028 0.002 0.0127 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 0.966966 NA NA 0.016163 0.001589 NA 0.007 NA 7.6199036 898 17 33495341 33495341 G A exonic UNC45B NA synonymous SNV UNC45B:NM_001033576:exon10:c.G1413A:p.K471K,UNC45B:NM_001267052:exon10:c.G1413A:p.K471K,UNC45B:NM_173167:exon10:c.G1413A:p.K471K exonic ENSG00000141161 NA synonymous SNV ENSG00000141161:ENST00000591048:exon9:c.G1413A:p.K471K,ENSG00000141161:ENST00000268876:exon10:c.G1413A:p.K471K,ENSG00000141161:ENST00000378449:exon10:c.G1413A:p.K471K,ENSG00000141161:ENST00000394570:exon10:c.G1413A:p.K471K,ENSG00000141161:ENST00000433649:exon10:c.G1413A:p.K471K Score=590;Name=lod=334 NA 17q12 Score=879;Name=V$MRF2_01 NA NA NA rs35879240 0.06 0.06 0.064 0.0648962 0.007 0.2212 0.0173 0.0015 0.0828 0.01 0.21 0.02 0.01 0.0319 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.237282 1.237282 NA 0.008372 0.004766 NA 0.072 NA 7.6193946 898 1 206905040 206905040 C T exonic MAPKAPK2 NA synonymous SNV MAPKAPK2:NM_004759:exon8:c.C948T:p.I316I,MAPKAPK2:NM_032960:exon8:c.C948T:p.I316I exonic ENSG00000162889 NA synonymous SNV ENSG00000162889:ENST00000294981:exon8:c.C948T:p.I316I,ENSG00000162889:ENST00000367103:exon8:c.C948T:p.I316I Score=477;Name=lod=116 NA 1q32.1 Score=782;Name=V$CART1_01 NA NA NA rs34526867 0.03 0.03 0.033 0.0407348 0.0149 NA 0.0288 0.1248 0.0041 0.01 NA 0.03 0.1 0.0206 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 1.372695 1.372695 NA 0.012907 0.117113 NA 0.029 NA 7.6182596 898 14 22988972 22988972 G C intergenic OR4E2,DAD1 dist=854734;dist=44835 NA NA exonic ENSG00000211865 NA unknown UNKNOWN Score=437;Name=lod=80 NA 14q11.2 Score=821;Name=V$IRF7_01 Name=YY1_(C-20),YY1,EBF,TCF12,NFKB Name=3 NA rs1483979 0.24 0.24 0.204 0.220447 0.17 0.5367 0.1715 0.0484 0.2137 0.18 0.52 0.17 0.07 0.231 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.657318 1.657318 NA 0.147824 0.060349 NA 0.159 NA 7.6178427 898 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 898 10 112724573 112724573 C T exonic SHOC2 NA synonymous SNV SHOC2:NM_001269039:exon1:c.C457T:p.L153L,SHOC2:NM_007373:exon2:c.C457T:p.L153L exonic ENSG00000108061 NA synonymous SNV ENSG00000108061:ENST00000265277:exon2:c.C457T:p.L153L,ENSG00000108061:ENST00000369452:exon2:c.C457T:p.L153L Score=824;Name=lod=2969 NA 10q25.2 NA NA NA Score=162;Name=329302.3_0_-_162 rs34081996 0.01 0.01 0.008 0.00638978 0.0199 NA 0.0101 NA 0.0051 0.02 NA 0.01 NA 0.0122 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 -1.342503 NA NA 0.01814 0.002724 NA NA NA 7.6164266 898 19 46812451 46812451 C T exonic HIF3A NA nonsynonymous SNV HIF3A:NM_022462:exon5:c.C398T:p.A133V,HIF3A:NM_152796:exon5:c.C398T:p.A133V,HIF3A:NM_152794:exon6:c.C599T:p.A200V,HIF3A:NM_152795:exon6:c.C605T:p.A202V exonic ENSG00000124440 NA nonsynonymous SNV ENSG00000124440:ENST00000420102:exon4:c.C452T:p.A151V,ENSG00000124440:ENST00000600383:exon4:c.C398T:p.A133V,ENSG00000124440:ENST00000244303:exon5:c.C398T:p.A133V,ENSG00000124440:ENST00000472815:exon5:c.C398T:p.A133V,ENSG00000124440:ENST00000300862:exon6:c.C599T:p.A200V,ENSG00000124440:ENST00000339613:exon6:c.C437T:p.A146V,ENSG00000124440:ENST00000377670:exon6:c.C605T:p.A202V NA NA 19q13.32 NA NA NA NA rs61750957 0.07 0.07 0.068 0.0728834 0.0676 0.0427 0.0375 0.1346 0.0511 0.06 0.04 0.04 0.13 0.0788 0.13 0.18 T 0.85 P 0.085 B 0.321 N 1.000 P 1.15 L 0.57 T -1.096 T 0.001 T 0.122 1.332 10.37 0.966 0.209 0.343 4.098 1.331867 1.331867 0.07 0.07186 0.131412 NA 0.13 NA 7.6150734 899 1 246755124 246755124 T C exonic CNST NA nonsynonymous SNV CNST:NM_001139459:exon2:c.T260C:p.L87S,CNST:NM_152609:exon2:c.T260C:p.L87S exonic ENSG00000162852 NA nonsynonymous SNV ENSG00000162852:ENST00000366511:exon2:c.T260C:p.L87S,ENSG00000162852:ENST00000366512:exon2:c.T260C:p.L87S,ENSG00000162852:ENST00000366513:exon2:c.T260C:p.L87S NA NA 1q44 NA Name=Pol2,POU2F2,TCF12,ZEB1_(SC-25388),NFKB,Oct-2,BATF NA NA rs6702823 0.89 0.89 0.871 0.883387 0.9056 0.8919 0.9236 0.795 0.9427 0.9 0.9 0.91 0.82 0.9088 0.91 1 T 0.0 B 0.001 B 0.207 N 1.000 P -0.895 N 2.08 T -0.990 T 0.000 T 0.041 -2.519 0.003 -2.86 -1.088 -0.589 9.704 -2.518982 NA 0.93 0.903953 0.8468 NA 0.862 NA 7.6149804 899 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 899 9 114468966 114468966 A C exonic C9orf84 NA nonsynonymous SNV C9orf84:NM_001080551:exon16:c.T2310G:p.N770K,C9orf84:NM_173521:exon18:c.T2427G:p.N809K exonic ENSG00000165181 NA nonsynonymous SNV ENSG00000165181:ENST00000394777:exon15:c.T2205G:p.N735K,ENSG00000165181:ENST00000394779:exon16:c.T2310G:p.N770K,ENSG00000165181:ENST00000318737:exon18:c.T2427G:p.N809K,ENSG00000165181:ENST00000374287:exon20:c.T2427G:p.N809K NA NA 9q31.3 NA NA NA NA rs7036568 0.21 0.21 0.209 0.217452 0.2475 0.0476 0.2205 0.3275 0.2106 0.25 0.06 0.22 0.34 0.2208 0.34 1 T 0.0 B 0.002 B 0.982 N 0.003 P 0.695 N 3.7 T -0.923 T 0.000 T 0.039 -1.182 0.082 -3.94 -0.675 -0.190 2.533 -1.181676 NA 1 0.251686 0.335452 ID=COSM1459334,COSM1459335;OCCURENCE=1(large_intestine) 0.261 NA 7.6133474 899 1 93306281 93306281 A G ncRNA_exonic SNORA66 NA NA NA ncRNA_exonic ENSG00000207523 NA NA NA Score=545;Name=lod=218 NA 1p22.1 NA Name=Pol2-4H8 Name=3 NA rs115931438 0.01 0.01 0.003 0.00479233 0.0159 NA 0.0101 NA 0.001 0.02 NA 0.01 NA 0.017 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 2.939448 2.939448 NA 0.020593 0.006849 NA 0.014 NA 7.6131736 899 19 6444196 6444196 C G exonic SLC25A23 NA synonymous SNV SLC25A23:NM_024103:exon9:c.G1188C:p.P396P exonic ENSG00000125648 NA synonymous SNV ENSG00000125648:ENST00000601322:exon2:c.G171C:p.P57P,ENSG00000125648:ENST00000414491:exon4:c.G471C:p.P157P,ENSG00000125648:ENST00000301454:exon9:c.G1188C:p.P396P,ENSG00000125648:ENST00000334510:exon9:c.G1188C:p.P396P,ENSG00000125648:ENST00000264088:exon10:c.G1329C:p.P443P Score=626;Name=lod=468 NA 19p13.3 Score=837;Name=V$HAND1E47_01 NA NA NA rs138598051 0.0041 0.0041 0.001 0.0119808 0.0099 NA 0.0029 0.0083 0.0378 0.01 NA 0.0028 NA 0.0263 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 1.302716 1.302716 NA 0.017334 0.008852 NA NA NA 7.6131326 899 9 132569532 132569532 C T exonic TOR1B NA synonymous SNV TOR1B:NM_014506:exon3:c.C531T:p.D177D exonic ENSG00000136816 NA synonymous SNV ENSG00000136816:ENST00000259339:exon3:c.C531T:p.D177D Score=543;Name=lod=215 NA 9q34.11 NA NA NA Score=80;Name=2486589_0_+_80 rs16936946 0.01 0.01 0.012 0.00798722 0.0239 0.001 0.0187 0.0008 0.001 0.02 0.0017 0.02 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 1.376428 1.376428 NA 0.020116 0.003631 NA 0.007 NA 7.6126506 899 9 96055063 96055063 C T exonic WNK2 NA synonymous SNV WNK2:NM_006648:exon22:c.C5316T:p.D1772D exonic ENSG00000165238 NA synonymous SNV ENSG00000165238:ENST00000356055:exon22:c.C408T:p.D136D,ENSG00000165238:ENST00000395477:exon22:c.C5316T:p.D1772D,ENSG00000165238:ENST00000427277:exon22:c.C4152T:p.D1384D,ENSG00000165238:ENST00000297954:exon23:c.C5427T:p.D1809D,ENSG00000165238:ENST00000349097:exon23:c.C4263T:p.D1421D Score=414;Name=lod=64 NA 9q22.31 NA NA NA NA rs41278286 0.36 0.36 0.349 0.392372 0.3131 0.4206 0.2954 0.3487 0.5726 0.32 0.45 0.29 0.36 0.4516 0.45 . . . . . . . . 0.000 P . . . . -0.922 T 0.000 T . -0.82 0.625 -1.75 -0.195 -2.297 11.398 -0.819743 NA NA 0.289604 0.336622 ID=COSM456267,COSM456268;OCCURENCE=1(breast) 0.355 NA 7.6123626 899 5 14397238 14397238 T C exonic TRIO NA synonymous SNV TRIO:NM_007118:exon29:c.T4398C:p.D1466D exonic ENSG00000038382 NA synonymous SNV ENSG00000038382:ENST00000513206:exon25:c.T3597C:p.D1199D,ENSG00000038382:ENST00000344204:exon29:c.T4398C:p.D1466D,ENSG00000038382:ENST00000509967:exon29:c.T4251C:p.D1417D,ENSG00000038382:ENST00000512070:exon29:c.T4221C:p.D1407D,ENSG00000038382:ENST00000537187:exon29:c.T4398C:p.D1466D NA NA 5p15.2 Score=928;Name=V$NFY_Q6 Name=GATA-1 NA Score=69;Name=1845325_0_+_69 rs30774 0.35 0.35 0.347 0.393371 0.334 0.0982 0.3761 0.6974 0.3599 0.33 0.09 0.39 0.66 0.3826 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33325 NA NA 0.338102 0.64503 ID=COSM449031;OCCURENCE=1(breast) 0.442 NA 7.6119646 899 6 35980121 35980121 C T exonic SLC26A8 NA nonsynonymous SNV SLC26A8:NM_001193476:exon3:c.G217A:p.V73M,SLC26A8:NM_052961:exon3:c.G217A:p.V73M,SLC26A8:NM_138718:exon3:c.G217A:p.V73M exonic ENSG00000112053 NA nonsynonymous SNV ENSG00000112053:ENST00000355574:exon3:c.G217A:p.V73M,ENSG00000112053:ENST00000394602:exon3:c.G217A:p.V73M,ENSG00000112053:ENST00000490799:exon3:c.G217A:p.V73M,ENSG00000112053:ENST00000480663:exon4:c.G475A:p.V159M NA NA 6p21.31 NA NA NA NA rs743923 0.25 0.25 0.266 0.260982 0.2366 0.1151 0.2277 0.4652 0.184 0.24 0.13 0.26 0.42 0.2386 0.42 0.37 T 0.003 B 0.001 B 0.401 N 1.000 P -0.895 N 0.9 T -0.973 T 0.009 T 0.096 0.171 4.919 -2.58 -0.450 0.027 1.985 0.170748 NA 0.53 0.246395 0.411938 NA 0.384 NA 7.6117384 899 1 45292926 45292926 C G exonic PTCH2 NA synonymous SNV PTCH2:NM_001166292:exon16:c.G2427C:p.S809S,PTCH2:NM_003738:exon16:c.G2427C:p.S809S exonic ENSG00000117425 NA synonymous SNV ENSG00000117425:ENST00000372192:exon16:c.G2427C:p.S809S,ENSG00000117425:ENST00000447098:exon16:c.G2427C:p.S809S Score=583;Name=lod=312 NA 1p34.1 NA Name=HEY1 NA NA rs111471526 0.01 0.01 0.008 0.00678914 0.0249 NA 0.0086 0.0008 0.002 0.03 NA 0.01 0.002 0.0123 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384942 NA NA 0.017791 0.00227 NA 0.007 NA 7.6116756 899 13 26148966 26148966 C T exonic ATP8A2 NA synonymous SNV ATP8A2:NM_016529:exon19:c.C1683T:p.F561F exonic ENSG00000132932 NA synonymous SNV ENSG00000132932:ENST00000255283:exon18:c.C1563T:p.F521F,ENSG00000132932:ENST00000281620:exon18:c.C1203T:p.F401F,ENSG00000132932:ENST00000381655:exon19:c.C1683T:p.F561F Score=488;Name=lod=128 NA 13q12.13 Score=922;Name=V$FOXD3_01 Name=CTCF NA NA rs6491066 0.55 0.55 0.565 0.536342 0.7147 0.1409 0.6095 0.6808 0.5133 0.7 0.15 0.67 0.69 0.6287 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273856 NA NA 0.711831 0.700441 NA 0.609 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116458.2;CLNDSDB=.;CLNDSDBID=. 7.6114356 899 11 67165015 67165015 T C exonic RAD9A NA synonymous SNV RAD9A:NM_001243224:exon8:c.T933C:p.S311S,RAD9A:NM_004584:exon11:c.T1161C:p.S387S exonic ENSG00000172613 NA synonymous SNV ENSG00000172613:ENST00000307980:exon11:c.T1161C:p.S387S Score=470;Name=lod=108 NA 11q13.2 NA Name=Pol2-4H8 NA NA rs2066494 0.05 0.05 0.021 0.0634984 0.004 0.0298 0.2709 0.0726 NA 0.004 0.02 0.2 0.06 0.0472 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.139915 NA NA 0.004307 0.052727 NA 0.051 NA 7.6111596 899 2 220285309 220285309 C T exonic DES NA synonymous SNV DES:NM_001927:exon4:c.C828T:p.D276D exonic ENSG00000175084 NA synonymous SNV ENSG00000175084:ENST00000373960:exon4:c.C828T:p.D276D Score=639;Name=lod=525 NA 2q35 Score=868;Name=V$ELK1_01 NA NA NA rs1058261 0.35 0.35 0.339 0.33746 0.3648 0.1835 0.3429 0.475 0.2781 0.36 0.2 0.38 0.47 0.3363 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.416589 1.416589 NA 0.355465 0.441217 NA 0.275 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000037254.3;CLNDSDB=.;CLNDSDBID=. 7.6101016 899 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 899 9 141016262 141016262 T G exonic CACNA1B NA nonsynonymous SNV CACNA1B:NM_001243812:exon46:c.T6644G:p.L2215R exonic ENSG00000148408 NA nonsynonymous SNV ENSG00000148408:ENST00000277551:exon47:c.T6644G:p.L2215R NA NA 9q34.3 NA NA NA NA rs2278973 0.88 0.88 0.893 0.910743 0.9115 0.8075 0.9193 0.9675 0.9335 0.9 0.78 0.88 0.96 0.903 0.96 0.71 T . . . . . . 0.172 P . . -4.06 D -1.024 T 0.000 T . 1.708 11.67 -7.22 -1.995 -0.665 6.258 1.708315 1.708315 0 0.909394 0.9625 NA 0.92 NA 7.6094394 899 2 42990101 42990101 G C exonic OXER1 NA nonsynonymous SNV OXER1:NM_148962:exon1:c.C1219G:p.L407V exonic ENSG00000162881 NA nonsynonymous SNV ENSG00000162881:ENST00000378661:exon1:c.C1219G:p.L407V NA NA 2p21 NA NA NA NA rs2278586 0.33 0.33 0.315 0.334864 0.2406 0.5952 0.2363 0.2042 0.41 0.23 0.63 0.23 0.2 0.2734 0.63 0.5 T 0.02 B 0.008 B . . 1.000 P 0 N -0.02 T -0.930 T 0.000 T 0.105 2.214 13.36 2.94 0.936 -0.036 12.012 2.214215 2.214215 0 0.210116 0.229687 ID=COSM1599964;OCCURENCE=1(central_nervous_system) 0.312 NA 7.6092174 899 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 899 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 899 18 28986333 28986333 A C exonic DSG4 NA nonsynonymous SNV DSG4:NM_001134453:exon12:c.A1930C:p.I644L,DSG4:NM_177986:exon12:c.A1930C:p.I644L exonic ENSG00000175065 NA nonsynonymous SNV ENSG00000175065:ENST00000308128:exon12:c.A1930C:p.I644L,ENSG00000175065:ENST00000359747:exon12:c.A1930C:p.I644L Score=304;Name=lod=23 NA 18q12.1 NA NA NA NA rs4799570 0.96 0.96 0.958 0.965855 0.9066 1 0.9553 0.997 0.9571 0.91 1 0.95 0.99 0.9203 1 1 T 0.0 B 0.0 B 0.117 N 1.000 P -2.405 N 0.95 T -0.968 T 0.000 T 0.146 -1.216 0.065 4.77 0.736 1.601 5.462 -1.215508 NA 1 0.898256 0.975261 NA 0.971 NA 7.6081774 899 1 93160902 93160902 T C exonic EVI5 NA nonsynonymous SNV EVI5:NM_005665:exon7:c.A1006G:p.I336V exonic ENSG00000067208 NA nonsynonymous SNV ENSG00000067208:ENST00000370331:exon7:c.A1006G:p.I336V,ENSG00000067208:ENST00000540033:exon7:c.A1006G:p.I336V,ENSG00000067208:ENST00000543509:exon7:c.A1006G:p.I336V Score=709;Name=lod=1012 NA 1p22.1 NA NA Name=12 NA rs2391199 0.94 0.94 0.946 0.95028 0.9056 0.9752 0.9452 0.9546 0.9683 0.91 0.97 0.93 0.95 0.9216 0.97 0.82 T 0.0 B 0.006 B 0.023 N 0.012 P 0.245 N 2.01 T -0.935 T 0.008 T 0.072 -0.208 2.992 2.3 0.494 -0.276 7.969 -0.207922 NA 0.85 0.898023 0.942124 NA 0.964 NA 7.6081104 899 7 42005836 42005836 C G exonic GLI3 NA synonymous SNV GLI3:NM_000168:exon15:c.G2835C:p.L945L exonic ENSG00000106571 NA synonymous SNV ENSG00000106571:ENST00000395925:exon15:c.G2835C:p.L945L Score=533;Name=lod=196 NA 7p14.1 Score=795;Name=V$SRF_C NA NA NA rs61758978 0.01 0.01 0.012 0.00838658 0.0189 NA 0.0216 0.0023 0.0051 0.02 0.0017 0.02 0.0041 0.0212 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950701 NA NA 0.01905 0.003229 NA NA NA 7.6075166 899 7 79833026 79833026 G A exonic GNAI1 NA synonymous SNV GNAI1:NM_001256414:exon5:c.G312A:p.L104L,GNAI1:NM_002069:exon5:c.G468A:p.L156L exonic ENSG00000127955 NA synonymous SNV ENSG00000127955:ENST00000351004:exon5:c.G468A:p.L156L,ENSG00000127955:ENST00000418742:exon5:c.G312A:p.L104L,ENSG00000127955:ENST00000457358:exon5:c.G312A:p.L104L Score=561;Name=lod=255 NA 7q21.11 Score=910;Name=V$TCF11_01 NA NA NA rs12721456 0.01 0.01 0.008 0.00778754 0.0229 NA 0.0086 0.0008 0.0092 0.02 NA 0.01 NA 0.0156 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 0.96262 NA NA 0.020833 0.005447 NA NA NA 7.6073336 899 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$ELK1_01 NA Name=9 NA rs863978 0.78 0.78 0.783 0.807708 0.6769 0.9802 0.7695 0.7337 0.8916 0.67 0.98 0.75 0.75 0.7353 0.98 . . . . . . . . 0.000 P . . . . -1.028 T 0.058 T . 0.614 7.305 -1.77 -0.169 -0.772 10.082 0.613917 NA NA 0.647442 0.756015 NA 0.783 NA 7.6070246 899 5 149460343 149460343 G A exonic CSF1R NA synonymous SNV CSF1R:NM_005211:exon3:c.C294T:p.H98H exonic ENSG00000182578 NA synonymous SNV ENSG00000182578:ENST00000504875:exon2:c.C294T:p.H98H,ENSG00000182578:ENST00000543093:exon2:c.C294T:p.H98H,ENSG00000182578:ENST00000286301:exon3:c.C294T:p.H98H Score=412;Name=lod=63 NA 5q32 Score=798;Name=V$PPARA_01 NA NA NA rs17652007 0.09 0.09 0.059 0.0776757 0.006 0.2302 0.1643 0.0242 0.0051 0.01 0.24 0.14 0.03 0.0493 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.80993 NA NA 0.004651 0.024739 ID=COSM35672;OCCURENCE=1(central_nervous_system) 0.036 NA 7.6067156 899 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 899 18 56204747 56204747 G A exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon5:c.C2672T:p.T891I exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon5:c.C2672T:p.T891I NA NA 18q21.32 NA Name=Pol2-4H8 Name=3 NA rs3826593 0.81 0.81 0.805 0.798522 0.9215 0.8363 0.7767 0.6369 0.8671 0.91 0.86 0.81 0.59 0.8801 0.93 0.26 T 0.0 B 0.0 B 0.156 N 1.000 P -0.895 N 0.97 T -0.976 T 0.000 T 0.014 -0.52 1.626 -4.01 -0.550 -0.595 1.900 -0.520336 NA 0 0.926279 0.682705 NA 0.783 NA 7.6054544 899 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 900 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 900 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 900 18 30349691 30349691 C T exonic KLHL14 NA synonymous SNV KLHL14:NM_020805:exon2:c.G864A:p.P288P exonic ENSG00000197705 NA synonymous SNV ENSG00000197705:ENST00000358095:exon2:c.G864A:p.P288P,ENSG00000197705:ENST00000359358:exon2:c.G864A:p.P288P Score=687;Name=lod=826 NA 18q12.1 NA Name=ZNF263,CHD2_(N-1250),Pol2,HEY1,TAF1 Name=27 NA rs17851892 0.33 0.33 0.297 0.326278 0.337 0.3452 0.3977 0.177 0.4468 0.35 0.37 0.35 0.22 0.3744 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538397 NA NA 0.354036 0.190509 NA 0.283 NA 7.6012306 900 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,HEY1,ELF1_(SC-631),E2F1,Pol2-4H8,E2F6,Pol2,HA-E2F1,CHD2_(N-1250) 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 900 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 900 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 900 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 900 19 50243171 50243171 C T exonic TSKS NA synonymous SNV TSKS:NM_021733:exon11:c.G1641A:p.L547L exonic ENSG00000126467 NA synonymous SNV ENSG00000126467:ENST00000358830:exon7:c.G1041A:p.L347L,ENSG00000126467:ENST00000246801:exon11:c.G1641A:p.L547L Score=439;Name=lod=81 NA 19q13.33 Score=696;Name=V$PPARG_02 NA NA NA rs79485806 0.01 0.01 0.013 0.0081869 0.0298 NA 0.0144 0.0008 NA 0.03 NA 0.01 0.002 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 -0.643062 NA NA 0.021163 0.003177 NA 0.022 NA 7.5999036 900 2 172188368 172188368 C T exonic METTL8 NA unknown UNKNOWN exonic ENSG00000123600 NA synonymous SNV ENSG00000123600:ENST00000375258:exon6:c.G666A:p.P222P,ENSG00000123600:ENST00000447486:exon6:c.G516A:p.P172P,ENSG00000123600:ENST00000392604:exon7:c.G666A:p.P222P Score=265;Name=lod=16 NA 2q31.1 NA NA NA NA rs13023973 0.13 0.13 0.127 0.134784 0.2376 NA 0.134 0.1369 0.1656 0.23 NA 0.15 0.12 0.2511 0.25 . . . . . . . . 0.000 P . . . . -0.995 T 0.000 T . 0.54 6.922 -4.45 -0.750 -0.233 6.695 0.539864 NA NA 0.245639 0.164169 NA 0.13 NA 7.5989943 900 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,YY1_(C-20),IRF1,SIRT6,TBP,CCNT2,YY1,NANOG_(SC-33759),Pol2,HA-E2F1,KAP1,GRp20,ELF1_(SC-631),ETS1,TAF1,NFKB,Pol2-4H8,GABP 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 900 16 68344696 68344696 C T exonic SLC7A6OS NA nonsynonymous SNV SLC7A6OS:NM_032178:exon1:c.G134A:p.G45D exonic ENSG00000103061 NA nonsynonymous SNV ENSG00000103061:ENST00000263997:exon1:c.G134A:p.G45D NA NA 16q22.1 NA Name=ELF1_(SC-631),HEY1,TAF1,NFKB,GABP,Pol2-4H8,POU2F2,Pol2,Pol2(phosphoS2),Pol2(b),TBP,YY1,YY1_(C-20),Oct-2 NA NA rs3803650 0.7 0.7 0.706 0.668331 0.5437 0.7728 0.6816 0.7746 0.5358 0.55 0.8 0.67 0.82 0.6096 0.82 0.63 T 0.002 B 0.006 B 0.475 N 1.000 P 1.355 L 2.24 T -0.995 T 0.000 T 0.275 0.841 8.395 -5.34 -0.806 -0.287 7.512 0.840662 NA 0.84 0.582674 0.74454 ID=COSM435576;OCCURENCE=1(breast) 0.638 NA 7.5973594 901 9 138440562 138440562 C T exonic OBP2A NA nonsynonymous SNV OBP2A:NM_014582:exon5:c.C397T:p.P133S exonic ENSG00000122136 NA nonsynonymous SNV ENSG00000122136:ENST00000342114:exon4:c.C328T:p.P110S,ENSG00000122136:ENST00000371776:exon5:c.C397T:p.P133S,ENSG00000122136:ENST00000539850:exon5:c.C397T:p.P133S NA NA 9q34.3 NA NA NA NA rs3178137 0.19 0.19 0.183 0.182308 0.2525 0.1567 0.1398 0.1604 0.1963 0.25 0.15 0.17 0.17 0.2224 0.26 0.14 T 0.842 P 0.563 P . . 1.000 P 1.285 L 2.96 T -0.927 T 0.000 T 0.078 1.421 10.69 0.488 0.126 -0.113 5.038 1.420551 1.420551 0.27 0.264419 0.181344 NA 0.188 NA 7.5940144 901 1 2541269 2541269 A G exonic MMEL1 NA synonymous SNV MMEL1:NM_033467:exon5:c.T294C:p.A98A exonic ENSG00000142606 NA synonymous SNV ENSG00000142606:ENST00000502556:exon4:c.T294C:p.A98A,ENSG00000142606:ENST00000504800:exon4:c.T294C:p.A98A,ENSG00000142606:ENST00000288709:exon5:c.T267C:p.A89A,ENSG00000142606:ENST00000378412:exon5:c.T294C:p.A98A Score=509;Name=lod=156 NA 1p36.32 Score=893;Name=V$TGIF_01 Name=USF-1 NA NA rs10797440 0.47 0.47 0.445 0.53155 0.33 0.5357 0.4885 0.7027 0.5337 0.33 0.48 0.45 0.67 0.4114 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 1.305858 1.305858 NA 0.331628 0.655243 NA 0.5 NA 7.5936386 901 19 11979164 11979164 T C exonic ZNF439 NA nonsynonymous SNV ZNF439:NM_152262:exon3:c.T1280C:p.L427S exonic ENSG00000171291 NA nonsynonymous SNV ENSG00000171291:ENST00000304030:exon3:c.T1280C:p.L427S,ENSG00000171291:ENST00000455282:exon3:c.T872C:p.L291S NA NA 19p13.2 NA NA NA NA rs10500209 0.14 0.14 0.104 0.10024 0.2604 0.004 0.2017 0.0091 0.0859 0.27 0.01 0.21 0.02 0.2057 0.27 0.68 T 0.154 B 0.124 B . . 1.000 P -0.375 N 3.23 T -0.925 T 0.000 T 0.051 -1.684 0.012 -0.71 -0.375 -10.396 3.235 -1.684349 NA 0.59 0.274186 0.053109 NA 0.101 NA 7.5930474 901 1 151239051 151239051 T C exonic PSMD4 NA synonymous SNV PSMD4:NM_002810:exon9:c.T951C:p.S317S exonic ENSG00000159352 NA synonymous SNV ENSG00000159352:ENST00000368881:exon9:c.T960C:p.S320S,ENSG00000159352:ENST00000368884:exon9:c.T951C:p.S317S NA NA 1q21.3 Score=837;Name=V$GR_Q6 NA NA NA rs7489 0.65 0.65 0.638 0.635383 0.7048 0.6121 0.6167 0.6384 0.5971 0.71 0.58 0.64 0.64 0.664 0.71 . . . . . . . . 0.000 P . . . . -1.079 T 0.010 T . -1.018 0.235 -11.0 -3.580 -1.536 2.353 -1.018013 NA NA 0.704884 0.63527 NA 0.768 NA 7.5929826 901 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 901 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=Pol2,Pol2(phosphoS2),E2F6,POU2F2,CTCF,Ini1,Pol2-4H8,CTCF_(C-20),HMGN3,GATA-1,HEY1,Oct-2,c-Myc,IRF1,Sin3Ak-20,BRF2,Pol2(b),ELK4,CCNT2,ZNF263 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 901 19 14910438 14910438 C T exonic OR7C1 NA nonsynonymous SNV OR7C1:NM_198944:exon1:c.G511A:p.E171K exonic ENSG00000127530 NA nonsynonymous SNV ENSG00000127530:ENST00000248073:exon1:c.G511A:p.E171K NA NA 19p13.12 NA NA NA NA rs10415312 0.95 0.95 NA 0.96865 0.8966 1 0.9438 0.997 0.9898 0.89 1 0.93 1 0.9352 1 0.19 T 0.017 B 0.007 B 0.395 N 1.000 P 1.195 L 1.19 T -1.014 T 0.000 T 0.068 1.083 9.421 -7.27 -2.871 -3.762 6.942 1.083111 NA 0.28 0.909767 0.98434 NA 0.92 NA 7.5917664 901 2 206480486 206480486 T C exonic PARD3B NA synonymous SNV PARD3B:NM_057177:exon22:c.T3360C:p.P1120P,PARD3B:NM_152526:exon22:c.T3381C:p.P1127P,PARD3B:NM_205863:exon22:c.T3264C:p.P1088P exonic ENSG00000116117 NA synonymous SNV ENSG00000116117:ENST00000349953:exon22:c.T3264C:p.P1088P,ENSG00000116117:ENST00000351153:exon22:c.T3360C:p.P1120P,ENSG00000116117:ENST00000358768:exon22:c.T3381C:p.P1127P,ENSG00000116117:ENST00000406610:exon23:c.T3567C:p.P1189P Score=429;Name=lod=74 NA 2q33.3 Score=744;Name=V$STAT5A_02 NA NA NA rs56272619 0.01 0.01 0.007 0.00938498 0.0249 NA 0.013 0.0015 0.0112 0.03 NA 0.02 0.002 0.0231 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 0.674695 NA NA 0.027447 0.00541 NA NA NA 7.5912196 901 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 901 4 106861730 106861730 A G exonic NPNT NA nonsynonymous SNV NPNT:NM_001033047:exon7:c.A700G:p.I234V,NPNT:NM_001184692:exon7:c.A700G:p.I234V,NPNT:NM_001184690:exon8:c.A751G:p.I251V,NPNT:NM_001184691:exon8:c.A790G:p.I264V,NPNT:NM_001184693:exon8:c.A790G:p.I264V exonic ENSG00000168743 NA nonsynonymous SNV ENSG00000168743:ENST00000305572:exon7:c.A700G:p.I234V,ENSG00000168743:ENST00000379987:exon7:c.A700G:p.I234V,ENSG00000168743:ENST00000514622:exon7:c.A700G:p.I234V,ENSG00000168743:ENST00000427316:exon8:c.A790G:p.I264V,ENSG00000168743:ENST00000453617:exon8:c.A751G:p.I251V,ENSG00000168743:ENST00000506666:exon8:c.A790G:p.I264V,ENSG00000168743:ENST00000503451:exon9:c.A841G:p.I281V NA NA 4q24 NA NA NA NA rs4340795 0.89 0.89 0.88 0.889377 0.9175 1 0.9179 0.7171 0.9591 0.92 1 0.9 0.72 0.9159 1 0.23 T 0.0 B 0.002 B 0.079 N 1.000 P 0.79 N -2.95 D -0.956 T 0.000 T 0.184 0.165 4.888 -9.72 -2.809 0.593 10.104 0.16503 NA 0.34 0.909535 0.73241 NA 0.841 NA 7.5903984 901 13 67801532 67801532 A G exonic PCDH9 NA synonymous SNV PCDH9:NM_020403:exon2:c.T1041C:p.N347N,PCDH9:NM_203487:exon2:c.T1041C:p.N347N exonic ENSG00000184226 NA synonymous SNV ENSG00000184226:ENST00000328454:exon1:c.T1041C:p.N347N,ENSG00000184226:ENST00000377865:exon1:c.T1041C:p.N347N,ENSG00000184226:ENST00000377861:exon2:c.T1041C:p.N347N,ENSG00000184226:ENST00000456367:exon2:c.T1041C:p.N347N,ENSG00000184226:ENST00000544246:exon2:c.T1041C:p.N347N Score=669;Name=lod=699 NA 13q21.32 Score=886;Name=V$CDPCR3HD_01 NA NA NA rs45527937 0.01 0.01 0.009 0.00958466 0.0318 NA 0.0115 0.0015 0.0061 0.03 NA 0.02 0.002 0.0187 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.615926 NA NA 0.027093 0.003858 NA 0.007 NA 7.5890736 901 2 99160361 99160361 G C exonic INPP4A NA synonymous SNV INPP4A:NM_001134224:exon11:c.G840C:p.L280L,INPP4A:NM_001134225:exon11:c.G840C:p.L280L,INPP4A:NM_001566:exon11:c.G840C:p.L280L,INPP4A:NM_004027:exon11:c.G840C:p.L280L exonic ENSG00000040933 NA synonymous SNV ENSG00000040933:ENST00000523221:exon9:c.G840C:p.L280L,ENSG00000040933:ENST00000074304:exon11:c.G840C:p.L280L,ENSG00000040933:ENST00000409016:exon11:c.G840C:p.L280L,ENSG00000040933:ENST00000409540:exon11:c.G840C:p.L280L,ENSG00000040933:ENST00000409851:exon11:c.G840C:p.L280L,ENSG00000040933:ENST00000545415:exon11:c.G840C:p.L280L Score=606;Name=lod=388 NA 2q11.2 Score=855;Name=V$E47_01 NA NA NA rs2230387 0.02 0.02 0.008 0.0101837 0.0328 NA 0.0216 0.0008 0.002 0.03 NA 0.03 NA 0.0198 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 1.04405 NA NA 0.027665 0.004975 NA 0.014 NA 7.5864016 901 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 902 1 16259813 16259813 A G exonic SPEN NA nonsynonymous SNV SPEN:NM_015001:exon11:c.A7078G:p.N2360D exonic ENSG00000065526 NA nonsynonymous SNV ENSG00000065526:ENST00000375759:exon11:c.A7078G:p.N2360D NA NA 1p36.13 NA NA NA NA rs848210 0.6 0.6 0.601 0.648962 0.5577 0.3214 0.7118 0.9758 0.5941 0.56 0.3 0.7 0.95 0.6146 0.95 0.63 T 0.0 B 0.0 B . . 1.000 P -1.355 N 3.13 T -1.042 T 0.000 T 0.002 -0.225 2.912 3.1 0.110 2.198 7.596 -0.225237 NA 0.7 0.576163 0.91103 NA 0.616 NA 7.5848704 902 20 57415455 57415455 C T exonic GNAS NA synonymous SNV GNAS:NM_016592:exon1:c.C294T:p.P98P exonic ENSG00000087460 NA synonymous SNV ENSG00000087460:ENST00000313949:exon1:c.C294T:p.P98P,ENSG00000087460:ENST00000371075:exon1:c.C294T:p.P98P,ENSG00000087460:ENST00000371098:exon1:c.C294T:p.P98P,ENSG00000087460:ENST00000453292:exon1:c.C57T:p.P19P Score=449;Name=lod=89 NA 20q13.32 Score=870;Name=V$MAZR_01 NA NA NA rs1800902 0.03 0.03 0.036 0.0467252 0.0229 0.005 0.0216 0.115 0.0399 0.02 0.0035 0.02 0.1 0.0332 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.420226 NA NA 0.026163 0.101906 NA 0.043 NA 7.5844036 902 19 5610045 5610045 G A exonic SAFB2 NA synonymous SNV SAFB2:NM_014649:exon9:c.C1257T:p.R419R exonic ENSG00000130254 NA synonymous SNV ENSG00000130254:ENST00000252542:exon9:c.C1257T:p.R419R Score=387;Name=lod=50 NA 19p13.3 Score=782;Name=V$MYCMAX_03 NA NA NA rs806706 0.02 0.02 0.006 0.0119808 0.0298 NA 0.0231 0.0015 0.0123 0.03 NA 0.03 0.002 0.0254 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 1.21876 NA NA 0.028721 0.006582 NA 0.007 NA 7.5827456 902 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 902 8 142505578 142505578 C A exonic MROH5 NA unknown UNKNOWN exonic ENSG00000226807 NA nonsynonymous SNV ENSG00000226807:ENST00000521053:exon2:c.G86T:p.R29L,ENSG00000226807:ENST00000521161:exon2:c.G163T:p.G55C,ENSG00000226807:ENST00000523857:exon2:c.G86T:p.R29L Score=419;Name=lod=67 NA 8q24.3 NA NA NA NA rs2748404 0.65 0.65 0.644 0.666733 0.7058 0.4712 0.8012 0.643 0.7648 0.7 0.47 0.8 0.7 0.693 0.8 1 T . . . . . . . . -0.695 N . . -0.957 T 0.000 T 0.441 0.52 6.816 4.56 0.690 1.359 8.560 0.519602 NA NA 0.686066 0.626676 ID=COSN168448;OCCURENCE=1(large_intestine) 0.717 NA 7.5818007 902 9 114688677 114688677 G A exonic UGCG NA synonymous SNV UGCG:NM_003358:exon5:c.G459A:p.T153T exonic ENSG00000148154 NA synonymous SNV ENSG00000148154:ENST00000374279:exon5:c.G459A:p.T153T Score=586;Name=lod=322 NA 9q31.3 Score=880;Name=V$HAND1E47_01 NA NA NA rs17853855 0.02 0.02 0.011 0.0133786 0.0338 0.001 0.0144 0.0008 0.0215 0.03 NA 0.02 NA 0.0233 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065892 NA NA 0.027907 0.007263 NA NA NA 7.5816596 902 2 209215571 209215571 T C exonic PIKFYVE NA synonymous SNV PIKFYVE:NM_015040:exon37:c.T5511C:p.I1837I exonic ENSG00000115020 NA synonymous SNV ENSG00000115020:ENST00000264380:exon37:c.T5511C:p.I1837I Score=476;Name=lod=115 NA 2q34 NA NA Name=57 NA rs13020468 0.02 0.02 0.026 0.0279553 0.0308 NA 0.0144 0.0643 0.0143 0.03 NA 0.01 0.05 0.0254 0.052 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.409406 1.409406 NA 0.029302 0.051975 NA 0.029 NA 7.5811646 902 3 44612895 44612895 C G UTR3 ZKSCAN7 NM_018651:c.*28C>G NA NA ncRNA_UTR3 ENSG00000196345 NA NA NA NA NA 3p21.31 NA Name=ZNF274 NA NA rs2034476 0.24 0.24 0.263 0.221645 0.335 0.001 0.1758 0.447 0.0603 0.31 0.0017 0.19 0.44 0.2624 0.44 0.1 T . . . . . . 1.000 P . . . . -0.946 T 0.000 T . -0.1 3.511 -3.63 -1.505 . 0.678 -0.099831 NA NA 0.321819 0.413073 NA 0.239 NA 7.580781 902 21 46057720 46057720 A C exonic KRTAP10-10 NA nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.A386C:p.Q129P exonic ENSG00000221859 NA nonsynonymous SNV ENSG00000221859:ENST00000380095:exon1:c.A386C:p.Q129P Score=376;Name=lod=45 NA 21q22.3 NA NA NA NA rs4818949 0.25 0.25 0.217 0.278554 0.2425 0.0526 0.2233 0.4773 0.319 0.25 0.05 0.24 0.47 0.2588 0.47 0.51 T 0.012 B 0.01 B . . 0.000 P 1.645 L 5.24 T -1.038 T 0.000 T 0.12 0.501 6.718 -0.050 0.190 0.029 4.401 0.501193 NA 0.2 0.251744 0.447345 NA 0.13 NA 7.5802894 902 2 187627337 187627337 G A exonic FAM171B NA synonymous SNV FAM171B:NM_177454:exon8:c.G2268A:p.E756E exonic ENSG00000144369 NA synonymous SNV ENSG00000144369:ENST00000304698:exon8:c.G2268A:p.E756E Score=403;Name=lod=58 NA 2q32.1 Score=815;Name=V$OLF1_01 NA NA NA rs17855087 0.02 0.02 0.013 0.0101837 0.0338 NA 0.0187 NA 0.0041 0.04 NA 0.02 NA 0.0216 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 0.192359 NA NA 0.031163 0.005674 NA 0.007 NA 7.5801036 902 4 25806319 25806319 C T exonic SEL1L3 NA synonymous SNV SEL1L3:NM_015187:exon10:c.G1620A:p.K540K exonic ENSG00000091490 NA synonymous SNV ENSG00000091490:ENST00000264868:exon10:c.G1515A:p.K505K,ENSG00000091490:ENST00000399878:exon10:c.G1620A:p.K540K,ENSG00000091490:ENST00000502949:exon10:c.G1161A:p.K387K Score=412;Name=lod=63 NA 4p15.2 Score=837;Name=V$RSRFC4_01 NA NA NA rs34954596 0.02 0.02 0.009 0.0183706 0.0318 0.0188 0.0144 0.0015 0.0297 0.03 0.02 0.01 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 -0.76869 NA NA 0.030347 0.005365 NA 0.014 NA 7.5799196 902 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 902 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 902 4 6293696 6293696 C G exonic WFS1 NA synonymous SNV WFS1:NM_001145853:exon6:c.C684G:p.R228R,WFS1:NM_006005:exon6:c.C684G:p.R228R exonic ENSG00000109501 NA synonymous SNV ENSG00000109501:ENST00000226760:exon6:c.C684G:p.R228R,ENSG00000109501:ENST00000503569:exon6:c.C684G:p.R228R Score=511;Name=lod=159 NA 4p16.1 NA NA Name=2 NA rs1801213 0.76 0.76 0.752 0.75639 0.6849 0.9038 0.7378 0.6959 0.773 0.68 0.94 0.73 0.7 0.7212 0.94 . . . . . . . . 0.000 P . . . . -1.034 T 0.000 T . 1.325 10.35 1.53 0.069 -0.097 6.940 1.324588 1.324588 NA 0.682717 0.668944 ID=COSM448012;OCCURENCE=1(breast) 0.667 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000038665.3;CLNDSDB=.;CLNDSDBID=. 7.5778496 902 12 57865321 57865321 G A exonic GLI1 NA nonsynonymous SNV GLI1:NM_001160045:exon10:c.G2414A:p.G805D,GLI1:NM_001167609:exon11:c.G2675A:p.G892D,GLI1:NM_005269:exon12:c.G2798A:p.G933D exonic ENSG00000111087 NA nonsynonymous SNV ENSG00000111087:ENST00000528467:exon10:c.G2675A:p.G892D,ENSG00000111087:ENST00000543426:exon10:c.G2414A:p.G805D,ENSG00000111087:ENST00000546141:exon11:c.G2675A:p.G892D,ENSG00000111087:ENST00000228682:exon12:c.G2798A:p.G933D Score=391;Name=lod=52 NA 12q13.3 Score=951;Name=V$LYF1_01 NA NA NA rs2228224 0.42 0.42 0.414 0.364018 0.6252 0.3036 0.3934 0.1626 0.409 0.62 0.33 0.44 0.19 0.5027 0.63 0.2 T 0.1 B 0.054 B 0.011 N 0.999 P 1.1 L 2.65 T -1.002 T 0.000 T 0.365 1.425 10.7 0.557 -0.001 0.370 1.941 1.424561 1.424561 0 0.628605 0.243532 NA 0.413 NA 7.5768284 902 12 10167277 10167277 G C exonic CLEC12B NA nonsynonymous SNV CLEC12B:NM_001129998:exon3:c.G346C:p.V116L,CLEC12B:NM_205852:exon3:c.G346C:p.V116L exonic ENSG00000256660 NA nonsynonymous SNV ENSG00000256660:ENST00000338896:exon3:c.G346C:p.V116L,ENSG00000256660:ENST00000396502:exon3:c.G346C:p.V116L,ENSG00000256660:ENST00000544853:exon3:c.G346C:p.V116L NA NA 12p13.2 NA NA NA NA rs637790 0.94 0.94 0.932 0.939097 0.9225 0.9782 0.9582 0.9191 0.9294 0.91 0.97 0.95 0.92 0.9205 0.97 1 T 0.0 B 0.0 B 0.017 N 1.000 P -2.255 N 1.5 T -0.973 T 0.000 T 0.033 -1.248 0.052 3.14 1.065 1.109 9.916 -1.24774 NA 1 0.914884 0.894235 NA 0.826 NA 7.5754494 903 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$CDPCR3HD_01 NA NA NA rs11083462 0.39 0.39 0.372 0.449281 0.3419 0.4683 0.3357 0.4826 0.5757 0.34 0.46 0.33 0.44 0.3956 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.385871 1.385871 NA 0.354419 0.438493 ID=COSM148605;OCCURENCE=1(stomach) 0.442 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079140.1|RCV000119611.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.5747476 903 16 68088485 68088485 A G exonic DUS2L NA synonymous SNV DUS2L:NM_001271762:exon5:c.A273G:p.S91S,DUS2L:NM_017803:exon6:c.A273G:p.S91S exonic ENSG00000167264 NA nonsynonymous SNV ENSG00000167264:ENST00000561965:exon3:c.A227G:p.Q76R Score=557;Name=lod=244 NA 16q22.1 Score=832;Name=V$TST1_01 NA NA NA rs11555011 0.12 0.12 0.115 0.121605 0.1412 0.0992 0.1585 0.0635 0.1769 0.14 0.12 0.16 0.06 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 1.795904 1.795904 NA 0.137442 0.095996 NA 0.13 NA 7.574458 903 11 55872876 55872876 C T exonic OR8H2 NA nonsynonymous SNV OR8H2:NM_001005200:exon1:c.C358T:p.H120Y exonic ENSG00000181767 NA nonsynonymous SNV ENSG00000181767:ENST00000313503:exon1:c.C358T:p.H120Y Score=393;Name=lod=53 NA 11q12.1 NA NA NA NA rs2512961 0.95 0.95 0.946 0.959465 0.9056 0.999 0.9553 0.9818 0.9468 0.9 0.99 0.95 0.97 0.9341 0.99 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.035 N 5.01 T -1.029 T 0.000 T 0.085 -2.256 0.004 3.58 0.518 1.754 9.436 -2.25589 NA 1 0.919306 0.971377 NA 0.899 NA 7.5743274 903 7 44148553 44148553 A G exonic AEBP1 NA synonymous SNV AEBP1:NM_001129:exon7:c.A996G:p.T332T exonic ENSG00000106624 NA synonymous SNV ENSG00000106624:ENST00000453052:exon1:c.A24G:p.T8T,ENSG00000106624:ENST00000223357:exon7:c.A996G:p.T332T Score=340;Name=lod=32 NA 7p13 NA NA NA NA rs2595701 0.79 0.79 0.768 0.788738 0.6799 0.8522 0.7939 0.8888 0.6963 0.68 0.86 0.77 0.89 0.7304 0.89 . . . . . . . . 0.000 P . . . . -1.028 T 0.000 T . 0.826 8.33 -4.51 -1.169 -0.664 2.78 0.826281 NA NA 0.682115 0.858087 NA 0.761 NA 7.5742516 903 4 1834666 1834666 T C exonic LETM1 NA synonymous SNV LETM1:NM_012318:exon6:c.A885G:p.E295E exonic ENSG00000168924 NA synonymous SNV ENSG00000168924:ENST00000302787:exon6:c.A885G:p.E295E Score=450;Name=lod=90 NA 4p16.3 Score=785;Name=V$STAT1_01 NA NA NA rs140729898 0.01 0.01 0.013 0.0115815 0.0358 0.001 0.0159 0.0015 0.0082 0.03 0.0017 0.01 0.002 0.0222 0.035 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196223 NA NA 0.034884 0.007944 NA NA NA 7.5737826 903 4 108931039 108931039 T C exonic HADH NA nonsynonymous SNV HADH:NM_001184705:exon2:c.T257C:p.L86P,HADH:NM_005327:exon2:c.T257C:p.L86P exonic ENSG00000138796 NA nonsynonymous SNV ENSG00000138796:ENST00000309522:exon2:c.T257C:p.L86P,ENSG00000138796:ENST00000403312:exon2:c.T434C:p.L145P,ENSG00000138796:ENST00000454409:exon2:c.T269C:p.L90P,ENSG00000138796:ENST00000603302:exon2:c.T257C:p.L86P,ENSG00000138796:ENST00000505878:exon3:c.T269C:p.L90P Score=410;Name=lod=62 NA 4q25 NA NA NA NA rs4956145 0.89 0.89 0.86 0.86901 0.9215 0.9762 0.951 0.6657 0.9213 0.93 0.97 0.96 0.7 0.915 0.97 1 T 0.0 B 0.0 B 0.000 N 0.001 P -0.77 N -1.07 T -0.932 T 0.000 T 0.199 1.101 9.493 4.34 0.686 4.801 12.044 1.101163 NA 1 0.923721 0.704494 NA 0.855 NA 7.5731124 903 9 6477791 6477791 C T exonic UHRF2 NA synonymous SNV UHRF2:NM_152896:exon6:c.C1143T:p.V381V exonic ENSG00000147854 NA synonymous SNV ENSG00000147854:ENST00000276893:exon6:c.C1143T:p.V381V,ENSG00000147854:ENST00000468435:exon6:c.C1143T:p.V381V Score=633;Name=lod=499 NA 9p24.1 Score=795;Name=V$STAT1_01 NA NA NA rs73399085 0.03 0.03 0.041 0.0357428 0.0328 NA 0.013 0.09 0.0184 0.03 NA 0.02 0.08 0.031 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 0.724982 NA NA 0.030116 0.068997 NA 0.065 NA 7.5727506 903 17 902802 902802 G A exonic TIMM22 NA synonymous SNV TIMM22:NM_013337:exon3:c.G486A:p.T162T exonic ENSG00000177370 NA synonymous SNV ENSG00000177370:ENST00000327158:exon3:c.G486A:p.T162T NA NA 17p13.3 NA Name=CTCF Name=128 NA rs62640032 0.02 0.02 0.017 0.0117812 0.0378 NA 0.0144 0.0015 0.0092 0.04 NA 0.02 0.0041 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 1.058652 NA NA 0.033837 0.008625 NA 0.014 NA 7.5726296 903 17 5042894 5042894 T C exonic USP6 NA nonsynonymous SNV USP6:NM_004505:exon14:c.T1423C:p.W475R exonic ENSG00000129204 NA nonsynonymous SNV ENSG00000129204:ENST00000250066:exon14:c.T1423C:p.W475R,ENSG00000129204:ENST00000572949:exon14:c.T1423C:p.W475R,ENSG00000129204:ENST00000304328:exon15:c.T472C:p.W158R,ENSG00000129204:ENST00000332776:exon22:c.T1423C:p.W475R,ENSG00000129204:ENST00000574788:exon22:c.T1423C:p.W475R NA NA 17p13.2 NA Name=CTCF NA NA rs8073787 0.73 0.73 0.736 0.77496 0.5626 0.9087 0.5735 0.8805 0.8558 0.57 0.91 0.57 0.86 0.6492 0.91 0.46 T 0.006 B 0.001 B 0.000 D 1.000 P 0 N 3.11 T -1.065 T 0.000 T 0.233 0.15 4.806 -0.532 -1.209 -0.049 . 0.149914 NA 0.06 0.549186 0.810486 NA 0.652 NA 7.5723474 903 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 903 17 79612333 79612333 G A exonic TSPAN10 NA unknown UNKNOWN exonic ENSG00000182612 NA nonsynonymous SNV ENSG00000182612:ENST00000328585:exon2:c.G352A:p.A118T NA NA 17q25.3 NA NA NA NA rs6565617 0.53 0.53 0.497 0.585463 0.2853 0.7808 0.6023 0.6445 0.6012 0.3 0.79 0.54 0.61 0.4662 0.79 0.53 T 0.003 B 0.002 B 0.621 N 1.000 P . . -1.27 T -0.942 T 0.000 T 0.121 -0.986 0.282 -6.24 -1.002 0.223 0.910 -0.985708 NA 0.41 0.343287 0.580932 NA 0.464 NA 7.5718797 903 7 134225827 134225827 A G exonic AKR1B10 NA nonsynonymous SNV AKR1B10:NM_020299:exon10:c.A937G:p.N313D exonic ENSG00000198074 NA nonsynonymous SNV ENSG00000198074:ENST00000359579:exon10:c.A937G:p.N313D NA NA 7q33 NA NA NA NA rs4728329 0.96 0.96 0.96 0.969449 0.9135 1 0.9323 0.997 0.9847 0.93 1 0.93 0.99 0.9381 1 0.46 T 0.0 B 0.0 B 0.403 N 1.000 P -0.15 N 1.53 T -0.903 T 0.000 T 0.025 -0.358 2.31 -6.43 -6.665 -6.453 1.806 -0.35805 NA 0.3 0.91186 0.984793 NA 0.978 NA 7.5698734 903 1 205814497 205814497 T C exonic PM20D1 NA nonsynonymous SNV PM20D1:NM_152491:exon3:c.A445G:p.I149V exonic ENSG00000162877 NA nonsynonymous SNV ENSG00000162877:ENST00000367136:exon3:c.A445G:p.I149V Score=452;Name=lod=92 NA 1q32.1 NA NA NA NA rs1891460 0.85 0.85 0.838 0.838458 0.9344 0.7411 0.8386 0.8744 0.7914 0.93 0.72 0.87 0.86 0.8833 0.95 0.37 T 0.0 B 0.0 B 0.000 N 1.000 P -0.945 N 3.21 T -1.026 T 0.000 T 0.037 0.961 8.923 3.65 0.157 4.731 9.016 0.961449 NA 0.2 0.94593 0.884022 NA 0.884 NA 7.5697034 903 14 92549586 92549586 G A exonic ATXN3 NA synonymous SNV ATXN3:NM_001164779:exon3:c.C129T:p.V43V,ATXN3:NM_001127697:exon5:c.C339T:p.V113V,ATXN3:NM_001164781:exon5:c.C282T:p.V94V,ATXN3:NM_001127696:exon6:c.C447T:p.V149V,ATXN3:NM_030660:exon6:c.C327T:p.V109V,ATXN3:NM_004993:exon7:c.C492T:p.V164V exonic ENSG00000066427 NA nonsynonymous SNV ENSG00000066427:ENST00000515746:exon4:c.C251T:p.S84L,ENSG00000066427:ENST00000556958:exon4:c.C251T:p.S84L,ENSG00000066427:ENST00000553570:exon5:c.C239T:p.S80L,ENSG00000066427:ENST00000554994:exon6:c.C404T:p.S135L Score=596;Name=lod=353 NA 14q32.12 Score=918;Name=V$FOXJ2_01 NA NA NA rs16999141 0.53 0.53 0.575 0.566693 0.4513 0.5565 0.3905 0.736 0.592 0.44 0.55 0.39 0.74 0.5028 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.384795 3.384795 NA 0.476628 0.668407 ID=COSM147835;OCCURENCE=1(stomach) 0.623 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116480.2;CLNDSDB=.;CLNDSDBID=. 7.569272 903 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=ERalpha_a,GATA3_(SC-268),FOXA1_(C-20),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 903 1 205767885 205767885 G A exonic SLC41A1 NA synonymous SNV SLC41A1:NM_173854:exon6:c.C756T:p.N252N exonic ENSG00000133065 NA synonymous SNV ENSG00000133065:ENST00000367137:exon6:c.C756T:p.N252N Score=624;Name=lod=456 NA 1q32.1 NA Name=c-Myc Name=12 NA rs708727 0.19 0.19 0.158 0.141374 0.3966 0.003 0.2291 0.0227 0.1196 0.4 0.0035 0.3 0.02 0.2953 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.283181 1.283181 NA 0.406047 0.083522 ID=COSM1338233;OCCURENCE=1(large_intestine) 0.304 NA 7.5687196 903 22 39884942 39884942 G A exonic MGAT3 NA synonymous SNV MGAT3:NM_001098270:exon1:c.G1590A:p.E530E,MGAT3:NM_002409:exon2:c.G1590A:p.E530E exonic ENSG00000128268 NA synonymous SNV ENSG00000128268:ENST00000341184:exon2:c.G1590A:p.E530E NA NA 22q13.1 NA Name=CCNT2,ZBTB7A_(SC-34508),TAL1_(SC-12984),ELF1_(SC-631),GABP,GATA2_(CG2-96) Name=2 NA rs117647351 0.02 0.02 0.008 0.0155751 0.0368 0.004 0.0115 0.0015 0.0276 0.03 0.01 0.02 0.0041 0.0338 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 0.538486 NA NA 0.027555 0.005271 NA 0.007 NA 7.5685116 903 11 61719387 61719387 T C exonic BEST1 NA synonymous SNV BEST1:NM_004183:exon2:c.T109C:p.L37L exonic ENSG00000167995 NA synonymous SNV ENSG00000167995:ENST00000378043:exon2:c.T109C:p.L37L,ENSG00000167995:ENST00000435278:exon2:c.T109C:p.L37L,ENSG00000167995:ENST00000524926:exon2:c.T109C:p.L37L Score=437;Name=lod=80 NA 11q12.3 NA NA Name=3 NA rs1800007 0.62 0.62 0.633 0.680511 0.3052 0.8978 0.5893 0.7988 0.7474 0.32 0.93 0.53 0.79 0.4847 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 1.061554 NA NA 0.309723 0.71594 NA 0.652 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086084.1;CLNDSDB=.;CLNDSDBID=. 7.5670436 903 1 204423811 204423811 G A exonic PIK3C2B NA synonymous SNV PIK3C2B:NM_002646:exon13:c.C2052T:p.I684I exonic ENSG00000133056 NA synonymous SNV ENSG00000133056:ENST00000367187:exon13:c.C2052T:p.I684I,ENSG00000133056:ENST00000424712:exon13:c.C2052T:p.I684I Score=599;Name=lod=363 NA 1q32.1 Score=832;Name=V$XBP1_01 NA NA NA rs61762608 0.02 0.02 0.017 0.0221645 0.0348 NA 0.0202 0.0015 0.0613 0.04 NA 0.03 0.0041 0.0308 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 1.353985 1.353985 NA 0.034186 0.006809 NA 0.058 NA 7.5668806 903 17 76166939 76166939 C G exonic SYNGR2 NA synonymous SNV SYNGR2:NM_004710:exon2:c.C141G:p.G47G exonic ENSG00000108639 NA synonymous SNV ENSG00000108639:ENST00000225777:exon2:c.C141G:p.G47G,ENSG00000108639:ENST00000585591:exon2:c.C141G:p.G47G,ENSG00000108639:ENST00000588282:exon2:c.C141G:p.G47G Score=439;Name=lod=81 NA 17q25.3 NA Name=Pol2,Pol2-4H8 NA NA rs1079170 0.09 0.09 0.08 0.0836661 0.0219 0.246 0.0605 0.0053 0.1022 0.02 0.26 0.05 0.01 0.0586 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222345 NA NA 0.019419 0.008852 NA 0.116 NA 7.5667476 903 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 903 10 50916484 50916484 A G exonic C10orf53 NA nonsynonymous SNV C10orf53:NM_182554:exon3:c.A295G:p.R99G exonic ENSG00000178645 NA nonsynonymous SNV ENSG00000178645:ENST00000374112:exon3:c.A295G:p.R99G,ENSG00000178645:ENST00000535836:exon3:c.A295G:p.R99G NA NA 10q11.23 NA NA NA NA rs1258236 0.85 0.85 0.819 0.808107 0.9354 0.9643 0.9121 0.5129 0.8415 0.94 0.97 0.91 0.54 0.8956 0.97 1 T 0.0 B 0.0 B . . 1.000 P 0 N . . -0.987 T 0.000 T 0.016 -1.237 0.056 -3.66 -1.997 -2.013 4.902 -1.23705 NA 1 0.93593 0.600772 NA 0.71 NA 7.5664034 903 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 903 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 904 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 904 11 63713317 63713317 G A exonic NAA40 NA synonymous SNV NAA40:NM_024771:exon2:c.G12A:p.K4K exonic ENSG00000110583 NA synonymous SNV ENSG00000110583:ENST00000377793:exon2:c.G12A:p.K4K,ENSG00000110583:ENST00000534965:exon2:c.G12A:p.K4K,ENSG00000110583:ENST00000539656:exon2:c.G12A:p.K4K,ENSG00000110583:ENST00000544138:exon2:c.G12A:p.K4K Score=592;Name=lod=341 NA 11q13.1 NA Name=EBF,YY1_(C-20) Name=144 NA rs3740637 0.19 0.19 0.171 0.170128 0.3946 0.0565 0.1499 0.0189 0.2751 0.39 0.05 0.19 0.02 0.3089 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.293678 1.293678 NA 0.398534 0.081554 NA 0.145 NA 7.5646326 904 6 32825090 32825090 G A exonic PSMB9 NA nonsynonymous SNV PSMB9:NM_002800:exon3:c.G179A:p.R60H exonic ENSG00000240065 NA nonsynonymous SNV ENSG00000240065:ENST00000374859:exon3:c.G179A:p.R60H,ENSG00000240065:ENST00000395330:exon3:c.G110A:p.R37H,ENSG00000240065:ENST00000414474:exon3:c.G110A:p.R37H NA NA 6p21.32 NA NA NA NA rs17587 0.22 0.22 0.23 0.224441 0.2565 0.2123 0.2233 0.2322 0.1943 0.26 0.2 0.23 0.19 0.2456 0.27 0.22 T 0.001 B 0.002 B 0.280 N 0.445 P 1.11 L 2.11 T -0.977 T 0.015 T 0.338 2.155 13.16 -3.82 -0.559 0.081 12.929 2.154819 2.154819 0.09 0.266617 0.214758 NA 0.29 NA 7.5646164 904 19 8953922 8953922 C T exonic MBD3L1 NA nonsynonymous SNV MBD3L1:NM_145208:exon1:c.C568T:p.R190C exonic ENSG00000170948 NA nonsynonymous SNV ENSG00000170948:ENST00000305625:exon1:c.C568T:p.R190C,ENSG00000170948:ENST00000595891:exon3:c.C568T:p.R190C NA NA 19p13.2 NA NA NA NA rs2972588 0.89 0.89 0.897 0.889776 0.9254 0.9048 0.853 0.8495 0.9182 0.91 0.92 0.88 0.84 0.9148 0.93 0.2 T 0.0 B 0.0 B . . 1.000 P -0.755 N 0.87 T -1.036 T 0.000 T 0.066 0.626 7.366 -7.66 -3.406 -1.985 5.359 0.625772 NA 0.09 0.929502 0.849387 NA 0.884 NA 7.5636314 904 X 15381421 15381421 C T exonic FIGF NA synonymous SNV FIGF:NM_004469:exon2:c.G111A:p.L37L exonic ENSG00000165197 NA synonymous SNV ENSG00000165197:ENST00000297904:exon2:c.G111A:p.L37L Score=417;Name=lod=66 NA Xp22.2 Score=946;Name=V$HSF2_01 NA NA NA rs12011065 0.09 0.09 0.08744 NA NA NA NA NA NA 0.04 0.02 0.05 0.25 0.0638 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.750824 NA NA 0.039685 0.225033 NA 0.072 NA 7.5631816 904 3 182925404 182925404 T C exonic MCF2L2 NA nonsynonymous SNV MCF2L2:NM_015078:exon23:c.A2704G:p.T902A exonic ENSG00000053524 NA nonsynonymous SNV ENSG00000053524:ENST00000328913:exon23:c.A2704G:p.T902A,ENSG00000053524:ENST00000473233:exon23:c.A2704G:p.T902A Score=452;Name=lod=92 NA 3q27.1 NA NA NA NA rs6804951 0.91 0.91 0.902 0.91274 0.9225 1 0.9409 0.7837 0.9673 0.92 1 0.95 0.78 0.927 1 0.57 T 0.0 B 0.0 B 0.002 N 0.000 P -0.695 N 2.8 T -0.999 T 0.000 T 0.01 -0.014 3.943 3.58 0.269 3.127 5.714 -0.013861 NA 0.26 0.920698 0.790967 NA 0.884 NA 7.5631354 904 1 86961210 86961210 C T exonic CLCA1 NA synonymous SNV CLCA1:NM_001285:exon12:c.C1965T:p.D655D exonic ENSG00000016490 NA synonymous SNV ENSG00000016490:ENST00000394711:exon12:c.C1965T:p.D655D,ENSG00000016490:ENST00000234701:exon13:c.C1965T:p.D655D Score=479;Name=lod=118 NA 1p22.3 Score=835;Name=V$FREAC4_01 NA NA NA rs5744408 0.02 0.02 0.022 0.01877 0.0398 0.005 0.0331 0.0053 0.0194 0.04 0.01 0.04 0.01 0.0258 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847602 NA NA 0.038023 0.007036 NA 0.022 NA 7.5630436 904 11 1246941 1246941 A G exonic MUC5B NA nonsynonymous SNV MUC5B:NM_002458:exon2:c.A101G:p.E34G exonic ENSG00000117983 NA nonsynonymous SNV ENSG00000117983:ENST00000447027:exon2:c.A101G:p.E34G,ENSG00000117983:ENST00000529681:exon2:c.A101G:p.E34G NA NA 11p15.5 NA NA NA NA rs2672785 0.32 0.32 0.31 0.327476 0.2406 0.4365 0.2767 0.3434 0.319 0.23 0.43 0.3 0.36 0.3251 0.43 0 D 0.0 B 0.0 B . . 1.000 P -0.295 N 2.29 T -0.913 T 0.000 T 0.049 0.631 7.391 0.033 -0.216 -0.925 0.516 0.630737 NA NA 0.204649 0.295569 NA 0.304 NA 7.5629844 904 9 125377505 125377505 A G exonic OR1Q1 NA nonsynonymous SNV OR1Q1:NM_012364:exon1:c.A489G:p.I163M exonic ENSG00000165202 NA nonsynonymous SNV ENSG00000165202:ENST00000297913:exon1:c.A489G:p.I163M NA NA 9q33.2 NA NA NA NA rs1329957 0.88 0.88 0.876 0.881789 0.9245 0.9494 0.9323 0.708 0.9673 0.92 0.95 0.91 0.72 0.9197 0.95 1 T 0.0 B 0.001 B 0.000 N 1.000 P -0.35 N 8.72 T -0.923 T 0.000 T 0.042 -2.622 0 5.57 1.608 -1.045 7.527 -2.62163 NA 1 0.926279 0.74966 NA 0.891 NA 7.5628544 904 7 143097100 143097100 A G exonic EPHA1 NA nonsynonymous SNV EPHA1:NM_005232:exon4:c.T479C:p.V160A exonic ENSG00000146904 NA nonsynonymous SNV ENSG00000146904:ENST00000275815:exon4:c.T479C:p.V160A NA NA 7q34 Score=887;Name=V$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 904 11 60892606 60892606 A G exonic CD5 NA nonsynonymous SNV CD5:NM_014207:exon9:c.A1382G:p.H461R exonic ENSG00000110448 NA nonsynonymous SNV ENSG00000110448:ENST00000347785:exon9:c.A1382G:p.H461R NA NA 11q12.2 NA Name=USF2,USF-1,USF1_(SC-8983) Name=2 NA rs637186 0.96 0.96 0.966 0.967851 0.9205 0.997 0.9524 0.9947 0.9611 0.92 1 0.94 0.99 0.938 1 1 T 0.0 B 0.0 B 0.230 N 1.000 P -0.345 N 1.64 T -0.978 T 0.000 T 0.009 -2.092 0.006 -2.65 -0.647 -0.231 11.233 -2.091582 NA 1 0.912538 0.983659 NA 0.899 NA 7.5622954 904 X 23928489 23928489 C T exonic CXorf58 NA nonsynonymous SNV CXorf58:NM_001169574:exon2:c.C70T:p.R24C,CXorf58:NM_152761:exon2:c.C70T:p.R24C exonic ENSG00000165182 NA nonsynonymous SNV ENSG00000165182:ENST00000379211:exon2:c.C70T:p.R24C NA NA Xp22.11 NA NA NA NA rs2707164 0.47 0.47 NA NA NA NA NA NA NA 0.65 0.35 0.58 0.23 0.5665 0.71 0.19 T 0.996 D 0.55 P 0.290 N 1.000 P 0.55 N 1.44 T -0.942 T 0.000 T 0.099 0.486 6.635 -0.668 -0.274 0.158 6.567 0.485625 NA 0.21 0.705262 0.245632 ID=COSM1179846;OCCURENCE=1(prostate) 0.428 NA 7.5615714 904 2 241631476 241631476 C G intronic AQP12A NA NA NA exonic ENSG00000184945 NA nonsynonymous SNV ENSG00000184945:ENST00000429564:exon2:c.C145G:p.P49A Score=358;Name=lod=38 NA 2q37.3 NA NA NA NA rs4328629 0.61 0.61 0.543 0.606829 0.5328 0.5536 0.6729 0.7723 0.4673 0.5 0.54 0.66 0.81 0.5415 0.81 1 T . . . . . . 0.000 P . . 2.85 T -0.997 T 0.000 T 0.099 -2.825 0 2.43 0.375 1.351 8.972 -2.824829 NA 1 0.530919 0.703185 NA 0.37 NA 7.5614477 904 17 17921995 17921995 C T exonic ATPAF2 NA synonymous SNV ATPAF2:NM_145691:exon8:c.G738A:p.Q246Q exonic ENSG00000171953 NA synonymous SNV ENSG00000171953:ENST00000474627:exon8:c.G738A:p.Q246Q Score=550;Name=lod=229 NA 17p11.2 Score=871;Name=V$RORA2_01 NA NA NA rs33997182 0.02 0.02 0.011 0.0163738 0.0427 NA 0.0159 0.003 0.0245 0.04 NA 0.02 NA 0.0308 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 1.127266 NA NA 0.032442 0.00749 NA 0.007 NA 7.5607246 904 19 48184474 48184474 C T exonic GLTSCR1 NA nonsynonymous SNV GLTSCR1:NM_015711:exon6:c.C2047T:p.P683S exonic ENSG00000063169 NA nonsynonymous SNV ENSG00000063169:ENST00000396720:exon6:c.C2047T:p.P683S NA NA 19q13.33 NA NA NA NA rs3745762 0.32 0.32 0.333 0.346246 0.2545 0.3214 0.317 0.4781 0.3088 0.25 0.29 0.27 0.48 0.3264 0.48 0.2 T 0.008 B 0.007 B . . 1.000 P 0.805 L 1.58 T -0.916 T 0.000 T 0.077 -0.87 0.504 1.84 1.012 0.274 1.155 -0.869519 NA 0.17 0.191758 0.315597 NA 0.391 NA 7.5606754 904 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 904 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 904 4 166929102 166929102 G A exonic TLL1 NA synonymous SNV TLL1:NM_001204760:exon7:c.G819A:p.E273E,TLL1:NM_012464:exon7:c.G819A:p.E273E exonic ENSG00000038295 NA synonymous SNV ENSG00000038295:ENST00000061240:exon7:c.G819A:p.E273E,ENSG00000038295:ENST00000507499:exon7:c.G819A:p.E273E,ENSG00000038295:ENST00000513213:exon7:c.G819A:p.E273E Score=598;Name=lod=359 NA 4q32.3 Score=814;Name=V$FREAC4_01 NA NA NA rs17590218 0.06 0.06 0.048 0.0521166 0.0427 0.0883 0.0533 0.0454 0.0327 0.04 0.08 0.04 0.06 0.0357 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 0.804214 NA NA 0.029884 0.042215 ID=COSM1131188;OCCURENCE=1(prostate) 0.036 NA 7.5583826 904 6 33382288 33382288 G A exonic PHF1 NA nonsynonymous SNV PHF1:NM_002636:exon10:c.G911A:p.R304K,PHF1:NM_024165:exon10:c.G911A:p.R304K exonic ENSG00000112511 NA nonsynonymous SNV ENSG00000112511:ENST00000374512:exon10:c.G911A:p.R304K,ENSG00000112511:ENST00000374516:exon10:c.G911A:p.R304K,ENSG00000112511:ENST00000487667:exon10:c.G911A:p.R304K,ENSG00000112511:ENST00000495509:exon10:c.G911A:p.R304K Score=579;Name=lod=302 NA 6p21.32 NA NA NA NA rs3116713 0.96 0.96 0.968 0.977636 0.9125 0.999 0.9813 0.9962 0.9949 0.9 1 0.98 0.99 0.9515 1 0.43 T 0.002 B 0.006 B 0.001 N 1.000 P 0.28 N 2.03 T -0.958 T 0.011 T 0.079 1.709 11.67 4.27 0.497 5.160 8.671 1.708933 1.708933 1 0.912791 0.979346 NA 0.964 NA 7.5565424 904 16 89623405 89623405 C T exonic SPG7 NA synonymous SNV SPG7:NM_003119:exon17:c.C2292T:p.I764I exonic ENSG00000197912 NA synonymous SNV ENSG00000197912:ENST00000268704:exon17:c.C2292T:p.I764I NA NA 16q24.3 Score=884;Name=V$CDPCR3HD_01 NA Name=10 NA rs61747711 0.02 0.02 0.021 0.0125799 0.0348 NA 0.0202 0.0053 0.0072 0.03 NA 0.02 0.0041 0.0295 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 -0.753569 NA NA 0.046047 0.009782 NA 0.007 NA 7.5563196 904 22 45132785 45132785 T C exonic PRR5 NA synonymous SNV PRR5:NM_001017529:exon8:c.T540C:p.G180G,PRR5:NM_001017530:exon8:c.T540C:p.G180G,PRR5:NM_181333:exon8:c.T825C:p.G275G,PRR5:NM_001017528:exon9:c.T798C:p.G266G,PRR5:NM_015366:exon9:c.T798C:p.G266G,PRR5:NM_001198721:exon10:c.T894C:p.G298G exonic ENSG00000186654 NA synonymous SNV ENSG00000186654:ENST00000336985:exon8:c.T825C:p.G275G,ENSG00000186654:ENST00000006251:exon9:c.T798C:p.G266G,ENSG00000186654:ENST00000432186:exon9:c.T798C:p.G266G,ENSG00000186654:ENST00000403581:exon10:c.T894C:p.G298G NA NA 22q13.31 NA NA NA NA rs6006865 0.06 0.06 0.04 0.0722843 0.0308 0.0704 0.1167 0.084 0.0695 0.03 0.06 0.09 0.07 0.0505 0.09 . . . . . . . . 0.060 P . . . . -0.981 T 0.010 T . -0.207 2.996 4.39 0.672 -0.032 10.446 -0.207184 NA NA 0.029116 0.073031 NA 0.036 NA 7.5562506 904 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 904 X 88008423 88008423 A C exonic CPXCR1 NA nonsynonymous SNV CPXCR1:NM_001184771:exon3:c.A8C:p.Y3S,CPXCR1:NM_033048:exon3:c.A8C:p.Y3S exonic ENSG00000147183 NA nonsynonymous SNV ENSG00000147183:ENST00000276127:exon3:c.A8C:p.Y3S,ENSG00000147183:ENST00000373111:exon3:c.A8C:p.Y3S Score=259;Name=lod=15 NA Xq21.31 NA NA NA NA rs5940915 0.9 0.9 0.907 NA NA NA NA NA NA 0.85 0.92 0.91 0.97 0.9067 0.97 . . 0.0 B 0.0 B 0.047 N 1.000 P -0.895 N 2.0 T -1.001 T 0.000 T 0.234 -0.997 0.265 3.28 0.789 0.625 7.155 -0.996647 NA 1 0.871261 0.965796 NA 0.696 NA 7.5553724 904 2 131487673 131487673 A C exonic GPR148 NA nonsynonymous SNV GPR148:NM_207364:exon1:c.A949C:p.T317P exonic ENSG00000173302 NA nonsynonymous SNV ENSG00000173302:ENST00000309926:exon1:c.A949C:p.T317P Score=459;Name=lod=98 NA 2q21.1 NA NA NA NA rs272128 0.95 0.95 0.957 0.954872 0.9175 0.999 0.9524 0.9652 0.9356 0.92 1 0.95 0.96 0.9345 1 0.25 T 0.0 B 0.0 B 0.000 N 0.999 P -0.805 N 2.52 T -0.990 T 0.000 T 0.068 -0.635 1.193 3.31 0.521 1.612 9.867 -0.634685 NA 1 0.926279 0.963686 NA 0.964 NA 7.5550544 905 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 905 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 905 18 73000005 73000005 G A exonic TSHZ1 NA synonymous SNV TSHZ1:NM_005786:exon2:c.G2508A:p.P836P exonic ENSG00000179981 NA synonymous SNV ENSG00000179981:ENST00000322038:exon2:c.G2508A:p.P836P,ENSG00000179981:ENST00000580243:exon2:c.G2643A:p.P881P Score=300;Name=lod=22 NA 18q22.3 Score=932;Name=V$TGIF_01 NA NA NA rs34878160 0.02 0.02 0.016 0.013778 0.0457 NA 0.0231 0.0023 0.0041 0.04 NA 0.03 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 -0.698197 NA NA 0.037558 0.010667 NA 0.007 NA 7.5529086 905 17 40632729 40632729 C T exonic ATP6V0A1 NA synonymous SNV ATP6V0A1:NM_001130020:exon8:c.C699T:p.G233G,ATP6V0A1:NM_001130021:exon8:c.C678T:p.G226G,ATP6V0A1:NM_005177:exon8:c.C678T:p.G226G exonic ENSG00000033627 NA synonymous SNV ENSG00000033627:ENST00000589727:exon6:c.C501T:p.G167G,ENSG00000033627:ENST00000592324:exon6:c.C579T:p.G193G,ENSG00000033627:ENST00000537728:exon7:c.C549T:p.G183G,ENSG00000033627:ENST00000585525:exon7:c.C549T:p.G183G,ENSG00000033627:ENST00000264649:exon8:c.C699T:p.G233G,ENSG00000033627:ENST00000343619:exon8:c.C678T:p.G226G,ENSG00000033627:ENST00000393829:exon8:c.C678T:p.G226G,ENSG00000033627:ENST00000546249:exon8:c.C678T:p.G226G Score=655;Name=lod=613 NA 17q21.2 NA NA NA Score=111;Name=997287_0_+_111 rs41283429 0.02 0.02 0.015 0.0175719 0.0368 NA 0.0259 0.0076 0.0235 0.04 NA 0.04 0.01 0.0365 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 1.471737 1.471737 NA 0.040465 0.011802 NA 0.022 NA 7.5529016 905 5 131663062 131663062 T C exonic SLC22A4 NA nonsynonymous SNV SLC22A4:NM_003059:exon5:c.T917C:p.I306T exonic ENSG00000197208 NA nonsynonymous SNV ENSG00000197208:ENST00000200652:exon5:c.T917C:p.I306T NA NA 5q31.1 NA NA Name=4 NA rs272893 0.59 0.59 0.568 0.554113 0.5885 0.3512 0.6816 0.7731 0.3415 0.58 0.35 0.69 0.78 0.5767 0.78 0.06 T 0.002 B 0.012 B 0.506 N 1.000 P 0.925 L -0.75 T -0.982 T 0.000 T 0.034 2.411 14.02 -1.15 -0.412 2.312 4.280 2.410972 2.410972 0.11 0.615233 0.738992 NA 0.659 NA 7.5529004 905 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 905 2 102968212 102968212 A G exonic IL1RL1 NA nonsynonymous SNV IL1RL1:NM_016232:exon11:c.A1502G:p.Q501R exonic ENSG00000115602 NA nonsynonymous SNV ENSG00000115602:ENST00000233954:exon11:c.A1502G:p.Q501R NA NA 2q12.1 Score=858;Name=V$ZID_01 NA NA NA rs10204137 0.32 0.32 0.018 0.381789 0.4046 0.125 0.2853 0.7421 0.2045 0.32 0.14 0.26 0.57 0.3483 0.57 0.48 T 0.0 B 0.002 B 0.655 N 1.000 P 0.755 N 3.21 T -0.989 T 0.000 T 0.008 -1.22 0.063 -0.566 -0.477 0.037 10.317 -1.219765 NA 1 0.027558 0.099864 NA NA NA 7.5528754 905 3 33135592 33135592 T C exonic TMPPE NA synonymous SNV TMPPE:NM_001039770:exon2:c.A96G:p.A32A exonic ENSG00000188167 NA synonymous SNV ENSG00000188167:ENST00000342462:exon2:c.A96G:p.A32A NA NA 3p22.3 Score=726;Name=V$PPARG_01 Name=CTCF_(SC-5916),E2F6_(H-50),CTCF,ZBTB33,SETDB1 NA NA rs61749982 0.02 0.02 0.022 0.0147764 0.0497 NA 0.0173 0.0038 0.0072 0.05 NA 0.02 0.01 0.0284 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 -0.387403 NA NA 0.035698 0.009305 NA 0.029 NA 7.5528686 905 18 56203898 56203898 T G exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon5:c.A3521C:p.H1174P exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon5:c.A3521C:p.H1174P NA NA 18q21.32 NA Name=Oct-2,PAX5-N19,EBF,PU.1,TCF12,POU2F2,Pol2,ZEB1_(SC-25388),CTCF_(C-20),NFKB,EBF1_(C-8),Pol2-4H8 NA NA rs3809977 0.7 0.7 0.663 0.671725 0.7674 0.7966 0.6772 0.4675 0.7168 0.78 0.81 0.7 0.43 0.7457 0.81 0.14 T 0.994 D 0.906 P 0.258 N 1.000 P 1.32 L 0.88 T -0.891 T 0.000 T 0.183 3.031 16.11 -1.63 -0.171 -0.327 1.043 3.030988 3.030988 0 0.767558 0.516568 NA 0.638 NA 7.5526754 905 6 152652599 152652599 G A exonic SYNE1 NA synonymous SNV SYNE1:NM_033071:exon77:c.C13008T:p.D4336D,SYNE1:NM_182961:exon78:c.C13221T:p.D4407D exonic ENSG00000131018 NA synonymous SNV ENSG00000131018:ENST00000423061:exon77:c.C13008T:p.D4336D,ENSG00000131018:ENST00000265368:exon78:c.C13221T:p.D4407D,ENSG00000131018:ENST00000367255:exon78:c.C13221T:p.D4407D,ENSG00000131018:ENST00000448038:exon78:c.C13008T:p.D4336D,ENSG00000131018:ENST00000341594:exon80:c.C12816T:p.D4272D Score=467;Name=lod=105 NA 6q25.2 NA NA NA NA rs10499268 0.03 0.03 0.028 0.0335463 0.0368 0.0198 0.0245 0.0333 0.0511 0.03 0.03 0.02 0.03 0.0343 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 0.043237 NA NA 0.043721 0.030867 NA 0.014 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118443.2;CLNDSDB=.;CLNDSDBID=. 7.5518456 905 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 905 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 905 18 56204250 56204250 A C exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon5:c.T3169G:p.L1057V exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon5:c.T3169G:p.L1057V NA NA 18q21.32 NA Name=Pol2-4H8 NA NA rs3809976 0.7 0.7 0.666 0.672125 0.7674 0.7976 0.6772 0.4682 0.7168 0.78 0.81 0.7 0.43 0.7463 0.81 1 T 0.782 P 0.26 B 0.000 N 1.000 P 1.59 L 0.94 T -0.844 T 0.000 T 0.027 2.143 13.12 -3.32 -0.500 -0.229 5.365 2.142712 2.142712 0 0.768372 0.517022 NA 0.645 NA 7.5512614 905 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 905 3 9099989 9099989 A G exonic SRGAP3 NA synonymous SNV SRGAP3:NM_001033117:exon7:c.T969C:p.N323N,SRGAP3:NM_014850:exon7:c.T969C:p.N323N exonic ENSG00000196220 NA synonymous SNV ENSG00000196220:ENST00000360413:exon7:c.T969C:p.N323N,ENSG00000196220:ENST00000383836:exon7:c.T969C:p.N323N Score=550;Name=lod=230 NA 3p25.3 Score=742;Name=V$P53_01 NA NA NA rs61747289 0.02 0.02 0.012 0.0167732 0.0328 NA 0.0476 0.0015 0.0164 0.03 NA 0.06 0.002 0.0319 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.146328 NA NA 0.051163 0.01044 NA 0.029 NA 7.5508036 905 15 65621441 65621441 C A exonic IGDCC3 NA nonsynonymous SNV IGDCC3:NM_004884:exon14:c.G2251T:p.V751L exonic ENSG00000174498 NA nonsynonymous SNV ENSG00000174498:ENST00000327987:exon14:c.G2251T:p.V751L NA NA 15q22.31 Score=781;Name=V$PAX5_02 NA NA NA rs12907128 0.59 0.59 0.544 0.614617 0.5974 0.8482 0.4841 0.3744 0.8088 0.59 0.83 0.51 0.35 0.6094 0.83 0.39 T 0.005 B 0.001 B 0.912 N 1.000 P 0 N -0.11 T -0.963 T 0.000 T 0.113 1.488 10.92 -5.23 -0.789 -0.442 0.439 1.48815 1.48815 0.47 0.577013 0.42724 ID=COSM434160;OCCURENCE=1(breast) 0.551 NA 7.5495204 905 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=FOXA1_(SC-101058),USF1_(SC-8983),HA-E2F1,Pol2,USF2,Pol2(phosphoS2),USF-1,E2F6,E2F6_(H-50),HDAC2_(SC-6296),GABP,Pol2-4H8,TAF1,HMGN3,NFKB,ATF3,E2F1,ELF1_(SC-631),HEY1,ETS1,c-Myc,Max,YY1_(C-20),NRSF,Mxi1_(bHLH),Sin3Ak-20,E2F4,CEBPB,YY1,PU.1,CCNT2,TBP 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 905 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=Pol2-4H8,Pol2 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 905 11 2924610 2924610 G A exonic SLC22A18 NA nonsynonymous SNV SLC22A18:NM_002555:exon2:c.G35A:p.R12Q,SLC22A18:NM_183233:exon2:c.G35A:p.R12Q exonic ENSG00000110628 NA nonsynonymous SNV ENSG00000110628:ENST00000485423:exon1:c.G35A:p.R12Q,ENSG00000110628:ENST00000312221:exon2:c.G35A:p.R12Q,ENSG00000110628:ENST00000347936:exon2:c.G35A:p.R12Q,ENSG00000110628:ENST00000380574:exon2:c.G35A:p.R12Q,ENSG00000110628:ENST00000449793:exon2:c.G35A:p.R12Q NA NA 11p15.4 NA Name=MafK_(SC-477),HNF4A,HNF4G_(SC-6558),Pol2 Name=15 NA rs1048047 0.61 0.61 0.594 0.607628 0.6014 0.7579 0.5908 0.4516 0.682 0.61 0.74 0.62 0.44 0.6087 0.74 1 T 0.001 B 0.0 B 0.069 N 1.000 P -1.5 N 2.32 T -0.959 T 0.000 T 0.147 -0.544 1.533 -1.5 -0.929 0.041 3.970 -0.543878 NA 1 0.575483 0.478429 NA 0.594 NA 7.5477504 905 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 905 5 79745469 79745469 A G exonic ZFYVE16 NA nonsynonymous SNV ZFYVE16:NM_014733:exon8:c.A3163G:p.S1055G,ZFYVE16:NM_001105251:exon9:c.A3163G:p.S1055G exonic ENSG00000039319 NA nonsynonymous SNV ENSG00000039319:ENST00000338008:exon8:c.A3163G:p.S1055G,ENSG00000039319:ENST00000505560:exon9:c.A3163G:p.S1055G,ENSG00000039319:ENST00000510158:exon9:c.A3163G:p.S1055G Score=304;Name=lod=23 NA 5q14.1 NA NA NA NA rs249038 0.88 0.88 0.873 0.853435 0.9334 0.9196 0.9294 0.6944 0.864 0.94 0.93 0.94 0.7 0.9092 0.94 1 T 0.0 B 0.0 B 0.259 N 1.000 P -1.645 N 1.35 T -0.963 T 0.000 T 0.04 -1.19 0.077 5.05 0.864 2.200 12.569 -1.190128 NA 1 0.943229 0.718892 NA 0.87 NA 7.5475044 905 10 6527143 6527143 G A exonic PRKCQ NA nonsynonymous SNV PRKCQ:NM_001242413:exon10:c.C989T:p.P330L,PRKCQ:NM_006257:exon10:c.C989T:p.P330L exonic ENSG00000065675 NA nonsynonymous SNV ENSG00000065675:ENST00000539722:exon9:c.C614T:p.P205L,ENSG00000065675:ENST00000263125:exon10:c.C989T:p.P330L,ENSG00000065675:ENST00000397176:exon10:c.C989T:p.P330L NA NA 10p15.1 NA NA NA NA rs2236379 0.32 0.32 0.322 0.365415 0.2316 0.38 0.3674 0.3744 0.4744 0.22 0.38 0.39 0.36 0.3048 0.43 0.38 T 0.0 B 0.001 B 0.101 N 1.000 P -0.46 N -0.25 T -0.918 T 0.000 T 0.313 0.82 8.301 -2.67 -0.676 0.733 5.465 0.819958 NA 0.4 0.249651 0.348389 ID=COSM146874;OCCURENCE=1(stomach) 0.391 NA 7.5472824 905 2 233391306 233391306 G A exonic CHRND NA synonymous SNV CHRND:NM_000751:exon2:c.G120A:p.K40K,CHRND:NM_001256657:exon2:c.G120A:p.K40K exonic ENSG00000135902 NA synonymous SNV ENSG00000135902:ENST00000258385:exon2:c.G120A:p.K40K,ENSG00000135902:ENST00000412233:exon2:c.G120A:p.K40K,ENSG00000135902:ENST00000441621:exon2:c.G120A:p.K40K,ENSG00000135902:ENST00000446616:exon2:c.G120A:p.K40K,ENSG00000135902:ENST00000449596:exon2:c.G120A:p.K40K,ENSG00000135902:ENST00000536614:exon2:c.G120A:p.K40K,ENSG00000135902:ENST00000543200:exon2:c.G120A:p.K40K Score=371;Name=lod=43 NA 2q37.1 NA NA NA NA rs55921262 0.02 0.02 0.014 0.0153754 0.0527 NA 0.0259 0.0015 0.0041 0.05 NA 0.02 0.01 0.0303 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 -0.161936 NA NA 0.036395 0.007944 NA 0.007 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116729.2;CLNDSDB=.;CLNDSDBID=. 7.5472716 905 3 16268974 16268974 T A exonic GALNT15 NA synonymous SNV GALNT15:NM_054110:exon10:c.T1887A:p.R629R exonic ENSG00000131386 NA synonymous SNV ENSG00000131386:ENST00000339732:exon10:c.T1887A:p.R629R Score=423;Name=lod=70 NA 3p25.1 NA NA NA NA rs15767 0.39 0.39 0.384 0.361022 0.3887 0.2034 0.3876 0.5287 0.2495 0.38 0.23 0.43 0.56 0.354 0.56 0.19 T . . . . . . 0.000 P . . . . -0.930 T 0.000 T . -0.299 2.572 -2.78 -0.719 -0.374 7.367 -0.299389 NA NA 0.376744 0.487517 ID=COSM1420350;OCCURENCE=1(large_intestine) 0.507 NA 7.5472226 905 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 905 2 177036754 177036754 T C exonic HOXD3 NA synonymous SNV HOXD3:NM_006898:exon3:c.T1051C:p.L351L exonic ENSG00000128652 NA synonymous SNV ENSG00000128652:ENST00000249440:exon3:c.T1051C:p.L351L,ENSG00000128652:ENST00000410016:exon3:c.T1051C:p.L351L,ENSG00000128652:ENST00000468418:exon4:c.T1051C:p.L351L Score=723;Name=lod=1154 NA 2q31.1 Score=785;Name=V$AHRARNT_02 Name=SUZ12 Name=4 NA rs1051929 0.76 0.76 0.743 0.820088 0.675 0.7738 0.7968 0.9463 0.863 0.65 0.76 0.76 0.94 0.7602 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.98299 NA NA 0.684554 0.881236 ID=COSM329400;OCCURENCE=2(breast),1(haematopoietic_and_lymphoid_tissue) 0.746 NA 7.5469126 905 22 25145471 25145471 A G exonic PIWIL3 NA nonsynonymous SNV PIWIL3:NM_001008496:exon11:c.T1234C:p.C412R,PIWIL3:NM_001255975:exon11:c.T1234C:p.C412R exonic ENSG00000184571 NA nonsynonymous SNV ENSG00000184571:ENST00000332271:exon11:c.T1234C:p.C412R,ENSG00000184571:ENST00000527701:exon12:c.T907C:p.C303R,ENSG00000184571:ENST00000533313:exon12:c.T907C:p.C303R NA NA 22q11.23 NA NA NA NA rs1892722 0.64 0.64 0.64 0.672923 0.5696 0.7312 0.7061 0.6831 0.682 0.55 0.73 0.68 0.67 0.6206 0.73 1 T 0.001 B 0.0 B 0.004 N 1.000 P -3.205 N 3.45 T -0.943 T 0.000 T 0.184 -1.989 0.007 -4.97 -1.121 -0.216 0.421 -1.98936 NA 1 0.597209 0.656605 NA 0.616 NA 7.5459244 905 9 93641193 93641193 C T exonic SYK NA synonymous SNV SYK:NM_001135052:exon10:c.C1470T:p.F490F,SYK:NM_001174168:exon10:c.C1470T:p.F490F,SYK:NM_001174167:exon11:c.C1539T:p.F513F,SYK:NM_003177:exon11:c.C1539T:p.F513F exonic ENSG00000165025 NA synonymous SNV ENSG00000165025:ENST00000375747:exon10:c.C1470T:p.F490F,ENSG00000165025:ENST00000375751:exon10:c.C1470T:p.F490F,ENSG00000165025:ENST00000375746:exon11:c.C1539T:p.F513F,ENSG00000165025:ENST00000375754:exon11:c.C1539T:p.F513F Score=587;Name=lod=325 NA 9q22.2 Score=926;Name=V$CREL_01 NA NA NA rs34231418 0.03 0.03 0.026 0.0341454 0.0398 NA 0.0259 0.0582 0.0368 0.05 NA 0.03 0.04 0.039 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 1.004788 NA NA 0.042209 0.048343 NA 0.065 NA 7.5456576 905 11 121000784 121000784 T C exonic TECTA NA synonymous SNV TECTA:NM_005422:exon9:c.T2805C:p.Y935Y exonic ENSG00000109927 NA synonymous SNV ENSG00000109927:ENST00000264037:exon9:c.T2805C:p.Y935Y,ENSG00000109927:ENST00000392793:exon10:c.T2805C:p.Y935Y Score=563;Name=lod=260 NA 11q23.3 NA Name=Pol2-4H8 Name=3 NA rs586473 0.76 0.76 0.772 0.751398 0.7266 0.6835 0.6441 0.888 0.7382 0.73 0.71 0.68 0.9 0.7041 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 1.039007 NA NA 0.690393 0.855424 NA 0.717 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038488.1;CLNDSDB=.;CLNDSDBID=. 7.5455736 905 19 12917520 12917520 A G exonic RNASEH2A NA synonymous SNV RNASEH2A:NM_006397:exon1:c.A33G:p.T11T exonic ENSG00000104889 NA synonymous SNV ENSG00000104889:ENST00000221486:exon1:c.A33G:p.T11T NA NA 19p13.2 Score=834;Name=V$CDPCR3_01 Name=HMGN3,TAF1,Pol2-4H8,GABP,HEY1,Pol2,HA-E2F1,Ini1,E2F6,E2F6_(H-50),ELK4,TBP,CCNT2,AP-2gamma,ZBTB7A_(SC-34508),c-Myc,Sin3Ak-20,E2F4,Mxi1_(bHLH) NA NA rs11554400 0.06 0.06 0.034 0.0628994 0.0249 0.0119 0.0778 0.1581 0.0153 0.03 0.02 0.06 0.16 0.0666 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.34739 1.34739 NA 0.02968 0.130425 NA 0.043 NA 7.5454866 906 17 75202387 75202387 C A exonic SEC14L1 NA synonymous SNV SEC14L1:NM_001144001:exon10:c.C1144A:p.R382R,SEC14L1:NM_001039573:exon12:c.C1246A:p.R416R,SEC14L1:NM_001143998:exon12:c.C1246A:p.R416R,SEC14L1:NM_001143999:exon12:c.C1246A:p.R416R,SEC14L1:NM_003003:exon12:c.C1246A:p.R416R,SEC14L1:NM_001204410:exon13:c.C1246A:p.R416R,SEC14L1:NM_001204408:exon14:c.C1246A:p.R416R exonic ENSG00000129657 NA synonymous SNV ENSG00000129657:ENST00000431431:exon10:c.C1144A:p.R382R,ENSG00000129657:ENST00000591437:exon10:c.C1144A:p.R382R,ENSG00000129657:ENST00000413679:exon12:c.C1246A:p.R416R,ENSG00000129657:ENST00000436233:exon12:c.C1246A:p.R416R,ENSG00000129657:ENST00000443798:exon12:c.C1246A:p.R416R,ENSG00000129657:ENST00000585618:exon12:c.C1246A:p.R416R,ENSG00000129657:ENST00000430767:exon13:c.C1246A:p.R416R,ENSG00000129657:ENST00000589827:exon13:c.C1246A:p.R416R,ENSG00000129657:ENST00000392476:exon14:c.C1246A:p.R416R Score=399;Name=lod=56 NA 17q25.2 NA NA Name=18 NA rs2280271 0.04 0.04 0.035 0.0561102 0.0368 0.126 0.0159 0.003 0.1043 0.03 0.1 0.02 0.002 0.0479 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.147767 NA NA 0.037326 0.007717 NA 0.072 NA 7.5446406 906 11 64680819 64680819 G A exonic ATG2A NA synonymous SNV ATG2A:NM_015104:exon5:c.C645T:p.D215D exonic ENSG00000110046 NA synonymous SNV ENSG00000110046:ENST00000377264:exon5:c.C645T:p.D215D,ENSG00000110046:ENST00000421419:exon5:c.C645T:p.D215D Score=444;Name=lod=85 NA 11q13.1 Score=831;Name=V$CHOP_01 NA NA NA rs618006 0.58 0.58 0.581 0.551717 0.7217 0.5427 0.4697 0.4054 0.6421 0.74 0.54 0.52 0.44 0.6743 0.74 . . . . . . . . 0.000 P . . . . -1.023 T 0.000 T . 1.008 9.117 -4.51 -0.852 -0.239 12.447 1.008019 NA NA 0.72631 0.469077 NA 0.638 NA 7.5443566 906 17 72926660 72926660 C T exonic OTOP2 NA synonymous SNV OTOP2:NM_178160:exon6:c.C930T:p.Y310Y exonic ENSG00000183034 NA synonymous SNV ENSG00000183034:ENST00000580223:exon5:c.C930T:p.Y310Y,ENSG00000183034:ENST00000331427:exon6:c.C930T:p.Y310Y Score=397;Name=lod=55 NA 17q25.1 Score=756;Name=V$PAX4_04 NA NA NA rs61746106 0.02 0.02 0.017 0.0177716 0.0398 NA 0.0403 0.0023 0.0184 0.04 NA 0.04 NA 0.0387 0.044 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.29266 NA NA 0.043837 0.009532 NA 0.007 NA 7.5443296 906 2 239353001 239353001 C T exonic ASB1 NA synonymous SNV ASB1:NM_001040445:exon4:c.C513T:p.D171D exonic ENSG00000065802 NA synonymous SNV ENSG00000065802:ENST00000409297:exon3:c.C210T:p.D70D,ENSG00000065802:ENST00000264607:exon4:c.C513T:p.D171D Score=452;Name=lod=92 NA 2q37.3 Score=935;Name=V$CREBP1CJUN_01 NA NA NA rs2290075 0.08 0.08 0.086 0.0848642 0.0417 0.0794 0.0173 0.1505 0.0941 0.04 0.07 0.02 0.19 0.056 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 -0.241678 NA NA 0.024884 0.135951 NA 0.072 NA 7.5440826 906 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 906 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=IRF1,eGFP-JunD,Sin3Ak-20,PU.1,CEBPB,YY1,TBP,ELK4,JunD,HA-E2F1,FOXA1_(SC-101058),Pol2(phosphoS2),FOXA1_(C-20),Pol2,GABP,Pol2-4H8,c-Jun,TAF1,ELF1_(SC-631),HEY1 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 906 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 906 17 76446872 76446872 A G exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon67:c.T10791C:p.D3597D exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon67:c.T10749C:p.D3583D,ENSG00000187775:ENST00000585328:exon67:c.T10776C:p.D3592D Score=445;Name=lod=86 NA 17q25.3 Score=934;Name=V$HSF2_01 NA NA NA rs35957404 0.02 0.02 0.017 0.0279553 0.0408 0.001 0.0288 0.0045 0.0736 0.04 NA 0.04 0.01 0.0386 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 1.160115 NA NA 0.045349 0.008171 NA 0.029 NA 7.5419176 906 20 44642406 44642406 G C exonic MMP9 NA nonsynonymous SNV MMP9:NM_004994:exon10:c.G1721C:p.R574P exonic ENSG00000100985 NA nonsynonymous SNV ENSG00000100985:ENST00000372330:exon10:c.G1721C:p.R574P NA NA 20q13.12 NA Name=CTCF Name=87 NA rs2250889 0.85 0.85 0.858 0.830272 0.9543 0.7718 0.7003 0.8283 0.8579 0.95 0.76 0.8 0.82 0.8839 0.95 1 T 0.0 B 0.0 B 0.013 N 1.000 P -2.325 N 4.3 T -1.031 T 0.000 T 0.059 1.783 11.92 3.9 0.634 0.809 5.292 1.782955 1.782955 1 0.953256 0.85497 NA 0.848 NA 7.5418774 906 15 75336729 75336729 A G exonic PPCDC NA nonsynonymous SNV PPCDC:NM_021823:exon4:c.A234G:p.I78M exonic ENSG00000138621 NA nonsynonymous SNV ENSG00000138621:ENST00000567336:exon2:c.A138G:p.I46M,ENSG00000138621:ENST00000342932:exon4:c.A234G:p.I78M Score=420;Name=lod=68 NA 15q24.2 NA NA NA NA rs2304899 0.84 0.84 0.844 0.818291 0.9493 0.871 0.8746 0.5741 0.9192 0.96 0.86 0.89 0.58 0.8964 0.96 0.44 T 0.0 B 0.0 B 0.000 N 0.000 P -1.155 N 0.95 T -0.987 T 0.000 T 0.064 1.296 10.24 4.53 0.699 3.651 8.496 1.296088 1.296088 0.51 0.946799 0.630178 NA 0.761 NA 7.5408344 906 17 67031457 67031457 C T exonic ABCA9 NA nonsynonymous SNV ABCA9:NM_080283:exon8:c.G1058A:p.R353H exonic ENSG00000154258 NA nonsynonymous SNV ENSG00000154258:ENST00000340001:exon8:c.G1058A:p.R353H,ENSG00000154258:ENST00000370732:exon8:c.G1058A:p.R353H,ENSG00000154258:ENST00000453985:exon8:c.G1058A:p.R353H Score=431;Name=lod=75 NA 17q24.2 NA NA NA NA rs1860447 0.88 0.88 0.863 0.857827 0.9334 1 0.9265 0.6112 0.9182 0.94 1 0.93 0.6 0.9204 1 0.52 T 0.0 B 0.004 B 0.145 N 0.000 P -1.3 N -2.19 D -0.986 T 0.000 T 0.033 -1.122 0.124 1.85 -0.031 2.488 4.375 -1.121574 NA 0.88 0.938837 0.695415 NA 0.797 NA 7.5406964 906 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 906 10 102707526 102707526 A G exonic FAM178A NA synonymous SNV FAM178A:NM_001136123:exon15:c.A3042G:p.R1014R,FAM178A:NM_018121:exon15:c.A3042G:p.R1014R exonic ENSG00000119906 NA synonymous SNV ENSG00000119906:ENST00000238961:exon15:c.A3042G:p.R1014R,ENSG00000119906:ENST00000370269:exon15:c.A3042G:p.R1014R Score=561;Name=lod=255 NA 10q24.31 Score=818;Name=V$CEBP_C NA NA NA rs12780429 0.01 0.01 0.013 0.0141773 0.0358 NA 0.0202 0.0015 0.0194 0.03 NA 0.02 0.002 0.038 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 1.015748 NA NA 0.053268 0.011121 NA 0.007 NA 7.5395986 906 10 13364914 13364914 C G exonic SEPHS1 NA synonymous SNV SEPHS1:NM_001195602:exon7:c.G684C:p.V228V,SEPHS1:NM_012247:exon8:c.G885C:p.V295V exonic ENSG00000086475 NA synonymous SNV ENSG00000086475:ENST00000537130:exon7:c.G684C:p.V228V,ENSG00000086475:ENST00000327347:exon8:c.G885C:p.V295V,ENSG00000086475:ENST00000545675:exon8:c.G885C:p.V295V Score=501;Name=lod=145 NA 10p13 Score=850;Name=V$YY1_02 NA NA NA rs62641685 0.05 0.05 0.045 0.0557109 0.0437 0.0764 0.0663 0.0416 0.0583 0.04 0.08 0.06 0.04 0.0473 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.062682 NA NA 0.036628 0.040399 ID=COSM146883;OCCURENCE=1(stomach) 0.109 NA 7.5390386 906 1 40129066 40129066 G A exonic NT5C1A NA synonymous SNV NT5C1A:NM_032526:exon4:c.C474T:p.S158S exonic ENSG00000116981 NA synonymous SNV ENSG00000116981:ENST00000235628:exon4:c.C474T:p.S158S Score=663;Name=lod=661 NA 1p34.2 Score=940;Name=V$GATA1_01 NA NA NA rs4660340 0.05 0.05 0.05 0.0409345 0.0437 0.1101 0.0216 0.003 0.0317 0.05 0.11 0.03 0.0041 0.0428 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 1.43522 1.43522 NA 0.041512 0.010667 NA 0.022 NA 7.5386546 906 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 906 6 152665261 152665261 C A exonic SYNE1 NA nonsynonymous SNV SYNE1:NM_033071:exon73:c.G11967T:p.E3989D,SYNE1:NM_182961:exon74:c.G12180T:p.E4060D exonic ENSG00000131018 NA nonsynonymous SNV ENSG00000131018:ENST00000423061:exon73:c.G11967T:p.E3989D,ENSG00000131018:ENST00000265368:exon74:c.G12180T:p.E4060D,ENSG00000131018:ENST00000367255:exon74:c.G12180T:p.E4060D,ENSG00000131018:ENST00000448038:exon74:c.G11967T:p.E3989D,ENSG00000131018:ENST00000341594:exon76:c.G11775T:p.E3925D Score=235;Name=lod=12 NA 6q25.2 NA NA NA NA rs4645434 0.58 0.58 0.549 0.545527 0.6024 0.6488 0.6182 0.4138 0.5072 0.61 0.65 0.61 0.44 0.5761 0.65 0.66 T 0.203 B 0.054 B 0.001 N 0.001 P 0.345 N 1.33 T -0.976 T 0.015 T 0.011 0.443 6.405 -1.25 -0.234 0.426 10.963 0.44283 NA 0.03 0.617791 0.468679 ID=COSM1441465,COSM136573,COSM42924;OCCURENCE=1(skin),1(large_intestine),1(central_nervous_system) 0.63 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118437.2;CLNDSDB=.;CLNDSDBID=. 7.5370424 906 9 25677953 25677953 T C exonic TUSC1 NA nonsynonymous SNV TUSC1:NM_001004125:exon1:c.A367G:p.N123D exonic ENSG00000198680 NA nonsynonymous SNV ENSG00000198680:ENST00000358022:exon1:c.A367G:p.N123D NA NA 9p21.2 NA Name=Pol2 Name=110 NA rs34498078 0.91 0.91 0.911 0.916334 0.9294 0.8413 0.8228 0.9947 0.9407 0.93 0.85 0.86 0.98 0.9222 0.99 0.64 T 0.0 B 0.0 B 0.874 N 1.000 P -1.5 N 1.02 T -1.004 T 0.000 T 0.017 -1.17 0.089 2.81 0.568 0.360 4.78 -1.16998 NA 1 0.944983 0.985659 NA 0.297 NA 7.5367504 906 19 58864479 58864479 T C exonic A1BG NA nonsynonymous SNV A1BG:NM_130786:exon3:c.A155G:p.H52R exonic ENSG00000121410 NA nonsynonymous SNV ENSG00000121410:ENST00000600966:exon1:c.A17G:p.H6R,ENSG00000121410:ENST00000263100:exon3:c.A155G:p.H52R NA NA 19q13.43 NA NA NA NA rs893184 0.86 0.86 0.863 0.848442 0.9404 0.9127 0.8573 0.7216 0.8528 0.93 0.91 0.87 0.7 0.9046 0.95 0.79 T 0.0 B 0.003 B 0.006 N 1.000 P -1.355 N 2.7 T -0.990 T 0.000 T 0.018 -0.454 1.896 -5.15 -1.456 -2.596 2.555 -0.454282 NA 0.36 0.95186 0.773718 NA 0.812 NA 7.5364734 906 8 24774683 24774683 C A exonic NEFM NA nonsynonymous SNV NEFM:NM_001105541:exon3:c.C187A:p.P63T,NEFM:NM_005382:exon3:c.C1315A:p.P439T exonic ENSG00000104722 NA nonsynonymous SNV ENSG00000104722:ENST00000221166:exon3:c.C1315A:p.P439T,ENSG00000104722:ENST00000433454:exon3:c.C187A:p.P63T,ENSG00000104722:ENST00000437366:exon3:c.C1315A:p.P439T,ENSG00000104722:ENST00000518131:exon3:c.C1315A:p.P439T Score=561;Name=lod=253 NA 8p21.2 NA NA NA NA rs196864 0.91 0.91 0.896 0.902955 0.9254 0.999 0.9424 0.7254 0.9928 0.92 1 0.94 0.75 0.9368 1 1 T 0.003 B 0.004 B 0.005 N 1.000 P -2.47 N -1.55 D -0.912 T 0.000 T 0.044 -3.045 0.001 2.4 -0.002 0.090 1.327 -3.044794 NA 1 0.935233 0.758057 NA 0.899 NA 7.5359004 906 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 906 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 907 10 124249118 124249118 C T exonic HTRA1 NA synonymous SNV HTRA1:NM_002775:exon3:c.C753T:p.I251I exonic ENSG00000166033 NA synonymous SNV ENSG00000166033:ENST00000368984:exon3:c.C753T:p.I251I Score=407;Name=lod=60 NA 10q26.13 NA NA NA NA rs17624021 0.03 0.03 0.022 0.0231629 0.0398 0.001 0.0173 0.0219 0.0348 0.05 NA 0.02 0.03 0.0419 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 0.421257 NA NA 0.050116 0.028597 NA 0.022 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086954.1;CLNDSDB=.;CLNDSDBID=. 7.5348506 907 10 135184126 135184126 G A exonic ECHS1 NA nonsynonymous SNV ECHS1:NM_004092:exon2:c.C224T:p.T75I exonic ENSG00000127884 NA nonsynonymous SNV ENSG00000127884:ENST00000368547:exon2:c.C224T:p.T75I NA NA 10q26.3 NA NA NA NA rs1049951 0.85 0.85 0.835 0.821286 0.9453 0.9851 0.9135 0.4697 0.9346 0.95 0.98 0.89 0.49 0.9131 0.98 0.13 T 0.04 B 0.052 B 0.481 N 1.000 P 0.68 N -0.31 T -0.974 T 0.000 T 0.016 0.692 7.698 3.82 1.460 1.007 8.783 0.69243 NA 0.21 0.940219 0.5302 NA 0.783 NA 7.5347144 907 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 907 19 52115645 52115645 G C exonic SIGLEC5 NA nonsynonymous SNV SIGLEC5:NM_003830:exon9:c.C1495G:p.P499A exonic ENSG00000105501,ENSG00000268500 NA nonsynonymous SNV ENSG00000105501:ENST00000222107:exon9:c.C1495G:p.P499A,ENSG00000268500:ENST00000429354:exon9:c.C1495G:p.P499A,ENSG00000105501:ENST00000570106:exon9:c.C1495G:p.P499A,ENSG00000268500:ENST00000599649:exon9:c.C1495G:p.P499A,ENSG00000105501:ENST00000534261:exon10:c.C1495G:p.P499A NA NA 19q13.41 NA NA NA NA rs3829655 0.44 0.44 0.438 0.435304 0.4225 0.5794 0.4683 0.3275 0.4223 0.44 0.56 0.46 0.31 0.4405 0.56 0.07 T 0.953 P 0.388 B . . 1.000 P 1.98 M 0.27 T -0.957 T 0.000 T 0.247 0.85 8.436 -1.27 -0.109 0.278 1.868 0.849683 NA 0.03 0.436395 0.322969 NA 0.486 NA 7.5339384 907 1 169511734 169511734 T C exonic F5 NA nonsynonymous SNV F5:NM_000130:exon13:c.A2594G:p.H865R exonic ENSG00000198734 NA nonsynonymous SNV ENSG00000198734:ENST00000367796:exon13:c.A2609G:p.H870R,ENSG00000198734:ENST00000367797:exon13:c.A2594G:p.H865R NA NA 1q24.2 Score=816;Name=V$GRE_C NA NA NA rs4525 0.24 0.24 0.212 0.26278 0.2535 0.248 0.3948 0.1679 0.3221 0.25 0.2 0.36 0.2 0.2738 0.36 0.4 T 0.0 B 0.0 B 0.465 N 1.000 P 1.32 L 2.12 T -0.971 T 0.014 T 0.02 0.27 5.461 -1.12 -0.449 -0.167 5.176 0.270076 NA 0.76 0.273953 0.184748 NA 0.341 NA 7.5320804 907 11 56185159 56185159 A G exonic OR5R1 NA nonsynonymous SNV OR5R1:NM_001004744:exon1:c.T550C:p.F184L exonic ENSG00000174942 NA nonsynonymous SNV ENSG00000174942:ENST00000312253:exon1:c.T550C:p.F184L NA NA 11q12.1 NA NA NA NA rs7930678 0.28 0.28 0.286 0.282348 0.2664 0.1369 0.1916 0.5378 0.1677 0.27 0.15 0.17 0.51 0.2573 0.51 1 T 0.0 B 0.001 B . . 1.000 P -2.93 N 9.01 T -0.899 T 0.000 T 0.056 -0.775 0.744 2.66 0.360 -0.573 3.824 -0.775389 NA 1 0.278813 0.500227 NA 0.283 NA 7.5308204 907 19 17641667 17641667 G A exonic FAM129C NA synonymous SNV FAM129C:NM_001098524:exon3:c.G252A:p.P84P,FAM129C:NM_173544:exon3:c.G252A:p.P84P exonic ENSG00000167483 NA synonymous SNV ENSG00000167483:ENST00000599124:exon2:c.G159A:p.P53P,ENSG00000167483:ENST00000599164:exon2:c.G159A:p.P53P,ENSG00000167483:ENST00000600519:exon2:c.G159A:p.P53P,ENSG00000167483:ENST00000601861:exon2:c.G159A:p.P53P,ENSG00000167483:ENST00000300971:exon3:c.G252A:p.P84P,ENSG00000167483:ENST00000332386:exon3:c.G252A:p.P84P,ENSG00000167483:ENST00000335393:exon3:c.G252A:p.P84P,ENSG00000167483:ENST00000352727:exon3:c.G252A:p.P84P,ENSG00000167483:ENST00000595684:exon3:c.G252A:p.P84P NA NA 19p13.11 NA Name=ZBTB33,ELF1_(SC-631),CHD2_(N-1250),Pol2 Name=15 NA rs74336438 0.04 0.04 0.042 0.0583067 0.0378 0.0298 0.0403 0.0787 0.0941 0.04 0.03 0.05 0.07 0.0504 0.074 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156725 NA NA 0.049302 0.07399 NA 0.014 NA 7.5291646 907 11 4674575 4674575 G A exonic OR51E1 NA synonymous SNV OR51E1:NM_152430:exon2:c.G819A:p.P273P exonic ENSG00000180785 NA nonsynonymous SNV ENSG00000180785:ENST00000530215:exon2:c.G149A:p.R50H NA NA 11p15.4 Score=813;Name=V$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 907 21 44324365 44324365 G A exonic NDUFV3 NA nonsynonymous SNV NDUFV3:NM_021075:exon3:c.G1243A:p.D415N exonic ENSG00000160194 NA nonsynonymous SNV ENSG00000160194:ENST00000354250:exon3:c.G1243A:p.D415N NA NA 21q22.3 NA NA NA NA rs10595 0.52 0.52 0.532 0.529153 0.5885 0.3363 0.3473 0.7277 0.5276 0.59 0.34 0.39 0.73 0.6067 0.73 0.03 D . . . . 0.170 N 1.000 P . . . . -0.932 T 0.000 T 0.001 1.033 9.219 2.94 0.907 0.822 7.899 1.033001 NA 0.04 0.609302 0.704948 NA 0.609 NA 7.5288314 907 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 907 1 154938235 154938235 G C exonic SHC1 NA synonymous SNV SHC1:NM_001130040:exon11:c.C1410G:p.R470R,SHC1:NM_183001:exon11:c.C1407G:p.R469R,SHC1:NM_001130041:exon12:c.C1077G:p.R359R,SHC1:NM_001202859:exon12:c.C942G:p.R314R,SHC1:NM_003029:exon12:c.C1080G:p.R360R exonic ENSG00000160691 NA synonymous SNV ENSG00000160691:ENST00000368449:exon9:c.C720G:p.R240R,ENSG00000160691:ENST00000606391:exon9:c.C810G:p.R270R,ENSG00000160691:ENST00000368445:exon11:c.C1407G:p.R469R,ENSG00000160691:ENST00000448116:exon11:c.C1410G:p.R470R,ENSG00000160691:ENST00000368450:exon12:c.C1077G:p.R359R,ENSG00000160691:ENST00000368453:exon12:c.C1080G:p.R360R Score=495;Name=lod=137 NA 1q21.3 NA NA NA NA rs1131397 0.14 0.14 0.144 0.158347 0.0278 0.002 0.0576 0.5061 0.0552 0.03 0.0017 0.07 0.53 0.0756 0.53 0.09 T . . . . 0.012 N 0.000 P . . 0.84 T -1.061 T 0.047 T . 0.797 8.197 -0.804 -0.231 -0.357 1.823 0.797373 NA NA 0.035116 0.448706 NA 0.239 NA 7.5281506 907 12 95604664 95604664 A G exonic FGD6 NA synonymous SNV FGD6:NM_018351:exon2:c.T396C:p.V132V exonic ENSG00000180263 NA synonymous SNV ENSG00000180263:ENST00000343958:exon2:c.T396C:p.V132V,ENSG00000180263:ENST00000546711:exon2:c.T396C:p.V132V,ENSG00000180263:ENST00000549499:exon2:c.T396C:p.V132V Score=329;Name=lod=29 NA 12q22 Score=776;Name=V$MEF2_01 NA NA NA rs4762289 0.04 0.04 0.038 0.047524 0.0467 0.0109 0.036 0.056 0.0828 0.04 0.01 0.04 0.06 0.0466 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.340634 NA NA 0.045581 0.05379 NA 0.051 NA 7.5277856 907 1 168059866 168059866 A C exonic GPR161 NA synonymous SNV GPR161:NM_001267613:exon3:c.T906G:p.G302G,GPR161:NM_001267614:exon3:c.T798G:p.G266G,GPR161:NM_001267611:exon4:c.T1191G:p.G397G,GPR161:NM_001267612:exon4:c.T744G:p.G248G,GPR161:NM_001267609:exon5:c.T1200G:p.G400G,GPR161:NM_001267610:exon5:c.T1140G:p.G380G,GPR161:NM_153832:exon6:c.T1140G:p.G380G exonic ENSG00000143147 NA synonymous SNV ENSG00000143147:ENST00000271357:exon3:c.T1140G:p.G380G,ENSG00000143147:ENST00000539777:exon3:c.T906G:p.G302G,ENSG00000143147:ENST00000546300:exon3:c.T798G:p.G266G,ENSG00000143147:ENST00000367836:exon4:c.T744G:p.G248G,ENSG00000143147:ENST00000361697:exon5:c.T1140G:p.G380G,ENSG00000143147:ENST00000367835:exon5:c.T1140G:p.G380G,ENSG00000143147:ENST00000537209:exon5:c.T1200G:p.G400G,ENSG00000143147:ENST00000367838:exon6:c.T1140G:p.G380G NA NA 1q24.2 Score=856;Name=V$NFKB_C NA NA NA NA NA NA NA 0.121006 0.1203 0.1448 0.1499 0.1619 0.0215 NA NA NA NA 0.0187 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450986 NA NA NA NA NA NA NA 7.5276666 907 16 57953010 57953010 C G exonic CNGB1 NA synonymous SNV CNGB1:NM_001297:exon20:c.G1950C:p.P650P exonic ENSG00000070729 NA synonymous SNV ENSG00000070729:ENST00000251102:exon20:c.G1950C:p.P650P,ENSG00000070729:ENST00000564448:exon20:c.G1932C:p.P644P NA NA 16q21 Score=979;Name=V$AP2REP_01 Name=CEBPB NA NA rs35424571 0.05 0.05 0.036 0.0483227 0.0447 0.0119 0.049 0.0983 0.0215 0.04 0.01 0.07 0.09 0.0461 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 0.168961 NA NA 0.048734 0.083375 NA 0.022 NA 7.5271326 907 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 907 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 908 7 140301731 140301731 G T exonic DENND2A NA nonsynonymous SNV DENND2A:NM_015689:exon1:c.C467A:p.P156H exonic ENSG00000146966 NA nonsynonymous SNV ENSG00000146966:ENST00000461883:exon1:c.C467A:p.P156H,ENSG00000146966:ENST00000537639:exon1:c.C467A:p.P156H,ENSG00000146966:ENST00000275884:exon2:c.C467A:p.P156H,ENSG00000146966:ENST00000492720:exon2:c.C467A:p.P156H,ENSG00000146966:ENST00000491728:exon3:c.C467A:p.P156H,ENSG00000146966:ENST00000496613:exon3:c.C467A:p.P156H NA NA 7q34 NA Name=PU.1 NA NA rs269243 0.96 0.96 0.962 0.97524 0.9175 1 0.9654 0.997 0.9867 0.92 1 0.97 0.99 0.9549 1 0.25 T 0.0 B 0.0 B 0.151 N 1.000 P -1.1 N 3.7 T -1.022 T 0.000 T 0.171 0.961 8.922 2.77 0.131 1.531 4.226 0.961329 NA 0.18 0.936014 0.989765 NA 0.971 NA 7.5249194 908 3 44943389 44943389 G A exonic TGM4 NA nonsynonymous SNV TGM4:NM_003241:exon8:c.G937A:p.E313K exonic ENSG00000163810 NA nonsynonymous SNV ENSG00000163810:ENST00000296125:exon8:c.G937A:p.E313K NA NA 3p21.31 NA NA NA NA rs1995641 0.53 0.53 0.522 0.555112 0.4026 0.7996 0.5072 0.475 0.6022 0.4 0.83 0.47 0.45 0.4899 0.83 0.21 T 0.582 P 0.13 B 0.102 N 1.000 P 0.16 N 0.73 T -1.000 T 0.000 T 0.033 -0.346 2.365 -3.6 -0.402 0.881 8.341 -0.345692 NA 0.76 0.416744 0.464594 NA 0.587 NA 7.5240894 908 8 144800420 144800420 C T exonic MAPK15 NA synonymous SNV MAPK15:NM_139021:exon4:c.C234T:p.D78D exonic ENSG00000181085 NA synonymous SNV ENSG00000181085:ENST00000338033:exon4:c.C234T:p.D78D,ENSG00000181085:ENST00000395107:exon4:c.C234T:p.D78D,ENSG00000181085:ENST00000395108:exon4:c.C234T:p.D78D Score=594;Name=lod=345 NA 8q24.3 Score=868;Name=V$CREBP1_01 NA NA NA rs56186625 0.02 0.02 0.024 0.0157748 0.0507 0.001 0.013 0.0038 0.0133 0.05 0.0017 0.01 0.0041 0.0392 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 0.276857 NA NA 0.052907 0.009305 NA 0.014 NA 7.5238596 908 20 61288038 61288038 G A exonic SLCO4A1 NA nonsynonymous SNV SLCO4A1:NM_016354:exon2:c.G232A:p.V78I exonic ENSG00000101187 NA nonsynonymous SNV ENSG00000101187:ENST00000370507:exon1:c.G232A:p.V78I,ENSG00000101187:ENST00000217159:exon2:c.G232A:p.V78I,ENSG00000101187:ENST00000497209:exon2:c.G232A:p.V78I NA NA 20q13.33 NA Name=GR NA NA rs1047099 0.18 0.18 0.171 0.148562 0.2903 0.1677 0.1585 0.0121 0.1605 0.28 0.19 0.19 0.01 0.2508 0.28 0.32 T 0.051 B 0.004 B 0.033 N 1.000 P 1.185 L 0.95 T -1.047 T 0.000 T 0.057 1.711 11.68 1.77 0.256 0.676 5.817 1.711049 1.711049 0.29 0.268469 0.053376 NA 0.116 NA 7.5237644 908 5 13944512 13944512 A C exonic DNAH5 NA nonsynonymous SNV DNAH5:NM_001369:exon1:c.T36G:p.H12Q exonic ENSG00000039139 NA nonsynonymous SNV ENSG00000039139:ENST00000265104:exon1:c.T36G:p.H12Q Score=463;Name=lod=102 NA 5p15.2 NA NA NA NA rs339445 0.91 0.91 0.905 0.912939 0.9324 0.8899 0.9597 0.8707 0.9407 0.94 0.89 0.96 0.87 0.9358 0.96 1 T 0.0 B 0.0 B 0.008 N 1.000 P -1.7 N 2.0 T -0.982 T 0.000 T 0.064 0.085 4.461 3.81 0.830 1.070 3.054 0.085395 NA 1 0.941977 0.893554 NA 0.906 NA 7.5231564 908 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 908 22 22899234 22899234 A G exonic PRAME NA nonsynonymous SNV PRAME:NM_206953:exon2:c.T19C:p.W7R,PRAME:NM_006115:exon3:c.T19C:p.W7R,PRAME:NM_206954:exon3:c.T19C:p.W7R,PRAME:NM_206955:exon3:c.T19C:p.W7R,PRAME:NM_206956:exon3:c.T19C:p.W7R exonic ENSG00000185686 NA nonsynonymous SNV ENSG00000185686:ENST00000403441:exon2:c.T19C:p.W7R,ENSG00000185686:ENST00000442481:exon2:c.T19C:p.W7R,ENSG00000185686:ENST00000543184:exon2:c.T19C:p.W7R,ENSG00000185686:ENST00000398741:exon3:c.T19C:p.W7R,ENSG00000185686:ENST00000398743:exon3:c.T19C:p.W7R,ENSG00000185686:ENST00000402697:exon3:c.T19C:p.W7R,ENSG00000185686:ENST00000405655:exon3:c.T19C:p.W7R,ENSG00000185686:ENST00000406503:exon3:c.T19C:p.W7R,ENSG00000185686:ENST00000420709:exon3:c.T19C:p.W7R,ENSG00000185686:ENST00000439106:exon3:c.T19C:p.W7R Score=243;Name=lod=13 NA 22q11.22 NA NA NA NA rs1129172 0.68 0.68 0.677 0.70627 0.5944 0.752 0.6931 0.7564 0.7157 0.6 0.74 0.65 0.77 0.6448 0.77 1 T 0.0 B 0.0 B . . 0.588 P 0 N 2.87 T -0.984 T 0.000 T 0.404 -0.922 0.393 2.78 0.765 0.671 5.900 -0.92244 NA 0.86 0.572326 0.738084 ID=COSM85675;OCCURENCE=2(breast),1(prostate),1(lung) 0.565 NA 7.5218074 908 11 25098938 25098938 G C exonic LUZP2 NA nonsynonymous SNV LUZP2:NM_001252010:exon9:c.G796C:p.E266Q,LUZP2:NM_001009909:exon11:c.G922C:p.E308Q,LUZP2:NM_001252008:exon11:c.G664C:p.E222Q exonic ENSG00000187398 NA nonsynonymous SNV ENSG00000187398:ENST00000336930:exon11:c.G922C:p.E308Q,ENSG00000187398:ENST00000533227:exon11:c.G664C:p.E222Q NA NA 11p14.3 NA NA NA NA rs7930185 0.48 0.48 0.473 0.438299 0.4553 0.7808 0.4712 0.1195 0.4755 0.46 0.82 0.47 0.11 0.4355 0.82 0.1 T 0.783 P 0.365 B 0.278 N 1.000 P 0.345 N 0.71 T -1.058 T 0.000 T 0.081 0.42 6.284 3.09 0.581 0.240 6.814 0.42042 NA 0.18 0.421047 0.16818 NA 0.42 NA 7.5214864 908 11 92086649 92086649 G A exonic FAT3 NA synonymous SNV FAT3:NM_001008781:exon1:c.G1371A:p.Q457Q exonic ENSG00000165323 NA synonymous SNV ENSG00000165323:ENST00000298047:exon1:c.G1371A:p.Q457Q,ENSG00000165323:ENST00000409404:exon1:c.G1371A:p.Q457Q,ENSG00000165323:ENST00000525166:exon1:c.G921A:p.Q307Q,ENSG00000165323:ENST00000541502:exon1:c.G1371A:p.Q457Q Score=343;Name=lod=33 NA 11q14.3 Score=827;Name=V$XBP1_01 NA NA NA rs10830903 0.05 0.05 0.05 0.0503195 0.0437 0.001 0.036 0.1346 0.0041 0.04 NA 0.04 0.11 0.0459 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 -2.265643 NA NA 0.055623 0.124099 NA 0.043 NA 7.5214436 908 1 158607935 158607935 T G exonic SPTA1 NA nonsynonymous SNV SPTA1:NM_003126:exon36:c.A5077C:p.K1693Q exonic ENSG00000163554 NA nonsynonymous SNV ENSG00000163554:ENST00000368147:exon36:c.A5077C:p.K1693Q,ENSG00000163554:ENST00000368148:exon36:c.A5077C:p.K1693Q NA NA 1q23.1 NA NA NA NA rs857725 0.28 0.28 0.234 0.245607 0.2763 0.4365 0.3026 0.1036 0.1687 0.28 0.4 0.28 0.13 0.2737 0.4 0.59 T 0.0 B 0.004 B 0.790 N 1.000 P 0.145 N 1.41 T -1.006 T 0.016 T 0.028 -0.113 3.448 -5.37 -0.844 -0.128 3.751 -0.112719 NA 0.27 0.262397 0.122959 NA 0.217 NA 7.5209364 908 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),Znf143_(16618-1-AP),CTCF,SMC3_(ab9263),Rad21 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 908 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 908 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 908 1 21560080 21560080 A G exonic ECE1 NA synonymous SNV ECE1:NM_001113347:exon12:c.T1605C:p.D535D,ECE1:NM_001113349:exon13:c.T1632C:p.D544D,ECE1:NM_001113348:exon14:c.T1593C:p.D531D,ECE1:NM_001397:exon14:c.T1641C:p.D547D exonic ENSG00000117298 NA synonymous SNV ENSG00000117298:ENST00000357071:exon12:c.T1605C:p.D535D,ENSG00000117298:ENST00000264205:exon13:c.T1632C:p.D544D,ENSG00000117298:ENST00000374893:exon14:c.T1641C:p.D547D,ENSG00000117298:ENST00000415912:exon14:c.T1593C:p.D531D,ENSG00000117298:ENST00000436918:exon14:c.T1641C:p.D547D Score=556;Name=lod=242 NA 1p36.12 Score=782;Name=V$ER_Q6 NA NA NA rs2228321 0.13 0.13 0.146 0.142572 0.0467 0.004 0.0648 0.4486 0.0256 0.05 NA 0.06 0.46 0.0646 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.26451 1.26451 NA 0.035465 0.370404 NA 0.101 NA 7.5199016 908 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 908 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 908 3 12875443 12875443 G A exonic CAND2 NA nonsynonymous SNV CAND2:NM_012298:exon13:c.G3322A:p.A1108T,CAND2:NM_001162499:exon15:c.G3673A:p.A1225T exonic ENSG00000144712 NA nonsynonymous SNV ENSG00000144712:ENST00000295989:exon13:c.G3322A:p.A1108T,ENSG00000144712:ENST00000456430:exon15:c.G3673A:p.A1225T NA NA 3p25.2 NA Name=Pol2-4H8,Pol2 NA NA rs12629133 0.49 0.49 0.445 0.450879 0.6332 0.4474 0.5187 0.2852 0.4427 0.61 0.45 0.54 0.29 0.5556 0.63 0.45 T 0.001 B 0.002 B 0.679 N 1.000 P 0.295 N 3.69 T -1.063 T 0.000 T 0.023 -0.513 1.657 2.05 0.001 0.948 11.276 -0.512544 NA 0.47 0.627235 0.35851 NA 0.565 NA 7.5172984 908 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 908 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 908 16 69177268 69177268 C T exonic CIRH1A NA synonymous SNV CIRH1A:NM_032830:exon6:c.C714T:p.D238D exonic ENSG00000141076 NA synonymous SNV ENSG00000141076:ENST00000314423:exon6:c.C714T:p.D238D,ENSG00000141076:ENST00000352319:exon6:c.C714T:p.D238D,ENSG00000141076:ENST00000562237:exon6:c.C756T:p.D252D,ENSG00000141076:ENST00000563094:exon6:c.C714T:p.D238D,ENSG00000141076:ENST00000566227:exon6:c.C570T:p.D190D NA NA 16q22.1 NA Name=CTCF Name=34 NA rs2288036 0.04 0.04 0.044 0.0433307 0.0457 0.0149 0.0519 0.0378 0.0716 0.05 0.02 0.06 0.05 0.0494 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 -1.079422 NA NA 0.055 0.047316 NA 0.072 NA 7.5165666 908 1 115168097 115168097 T C exonic DENND2C NA nonsynonymous SNV DENND2C:NM_198459:exon2:c.A509G:p.D170G,DENND2C:NM_001256404:exon4:c.A509G:p.D170G exonic ENSG00000175984 NA nonsynonymous SNV ENSG00000175984:ENST00000393276:exon2:c.A509G:p.D170G,ENSG00000175984:ENST00000393277:exon2:c.A509G:p.D170G,ENSG00000175984:ENST00000393274:exon4:c.A509G:p.D170G Score=593;Name=lod=344 NA 1p13.2 NA NA NA NA rs12136548 0.16 0.16 0.141 0.125599 0.2913 0.0873 0.1787 0.0197 0.1002 0.29 0.08 0.21 0.02 0.227 0.3 0.54 T 0.0 B 0.0 B 0.061 N 0.953 P -0.665 N 3.78 T -1.059 T 0.011 T 0.031 1.067 9.357 -1.64 -0.223 0.275 1.447 1.066944 NA 0.47 0.298488 0.072174 NA 0.152 NA 7.5165454 908 19 6454651 6454651 T C exonic SLC25A23 NA synonymous SNV SLC25A23:NM_024103:exon5:c.A561G:p.K187K exonic ENSG00000125648 NA synonymous SNV ENSG00000125648:ENST00000414491:exon1:c.A12G:p.K4K,ENSG00000125648:ENST00000301454:exon5:c.A561G:p.K187K,ENSG00000125648:ENST00000334510:exon5:c.A561G:p.K187K,ENSG00000125648:ENST00000264088:exon6:c.A702G:p.K234K Score=519;Name=lod=172 NA 19p13.3 Score=849;Name=V$TAL1BETAITF2_01 NA NA NA rs8103745 0.15 0.15 0.156 0.184505 0.0268 NA 0.0576 0.5983 0.0675 0.02 NA 0.05 0.59 0.0821 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.268642 1.268642 NA 0.041512 0.518838 NA 0.217 NA 7.5162546 909 15 58476281 58476281 A G exonic AQP9 NA nonsynonymous SNV AQP9:NM_020980:exon6:c.A835G:p.T279A exonic ENSG00000103569 NA nonsynonymous SNV ENSG00000103569:ENST00000219919:exon6:c.A835G:p.T279A,ENSG00000103569:ENST00000536493:exon6:c.A835G:p.T279A,ENSG00000103569:ENST00000558772:exon6:c.A640G:p.T214A NA NA 15q21.3 NA NA Name=7 NA rs1867380 0.88 0.88 0.862 0.842851 0.9463 0.8313 0.9222 0.7103 0.8712 0.95 0.86 0.94 0.74 0.9148 0.96 0.77 T 0.0 B 0.0 B 0.960 N 1.000 P 0 N -1.71 D -0.998 T 0.000 T 0.035 -0.702 0.966 -3.7 -0.492 . 9.068 -0.70165 NA 0.99 0.957246 0.78969 NA 0.754 NA 7.5149874 909 1 116655272 116655272 C T exonic MAB21L3 NA synonymous SNV MAB21L3:NM_152367:exon2:c.C36T:p.C12C exonic ENSG00000173212 NA synonymous SNV ENSG00000173212:ENST00000369500:exon2:c.C36T:p.C12C NA NA 1p13.1 NA Name=ELF1_(SC-631) Name=4 NA rs61788520 0.03 0.03 0.018 0.0169728 0.0547 NA 0.0259 0.003 0.0082 0.05 NA 0.04 0.002 0.0404 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 0.271488 NA NA 0.057093 0.012483 NA 0.014 NA 7.5144736 909 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 909 9 140332478 140332478 A G exonic ENTPD8 NA nonsynonymous SNV ENTPD8:NM_001033113:exon3:c.T185C:p.L62P,ENTPD8:NM_198585:exon3:c.T185C:p.L62P exonic ENSG00000188833 NA nonsynonymous SNV ENSG00000188833:ENST00000472938:exon2:c.T185C:p.L62P,ENSG00000188833:ENST00000493135:exon2:c.T146C:p.L49P,ENSG00000188833:ENST00000344119:exon3:c.T185C:p.L62P,ENSG00000188833:ENST00000371506:exon3:c.T185C:p.L62P Score=449;Name=lod=89 NA 9q34.3 NA NA NA NA rs6606582 0.97 0.97 0.965 0.969649 0.9374 0.998 0.964 0.9955 0.9427 0.93 1 0.96 0.99 0.949 1 1 T 0.0 B 0.0 B 0.000 N 0.055 P -2.77 N 2.84 T -1.014 T 0.000 T 0.42 -0.753 0.808 2.47 0.126 1.369 6.109 -0.752926 NA 1 0.933256 0.987727 NA 0.906 NA 7.5136774 909 7 155503920 155503920 A T exonic RBM33 NA synonymous SNV RBM33:NM_053043:exon8:c.A972T:p.P324P exonic ENSG00000184863 NA synonymous SNV ENSG00000184863:ENST00000440108:exon4:c.A675T:p.P225P,ENSG00000184863:ENST00000401878:exon8:c.A972T:p.P324P NA NA 7q36.3 NA Name=MafK_(ab50322) NA NA rs7800753 0.64 0.64 0.629 0.642971 0.7485 0.6885 0.4885 0.5015 0.7883 0.74 0.66 0.53 0.53 0.6821 0.74 . . . . . . . . 0.051 P . . . . -1.097 T 0.000 T . -0.309 2.528 -10.5 -3.561 -3.203 9.849 -0.309196 NA NA 0.722572 0.537804 NA 0.645 NA 7.5134946 909 11 55135435 55135435 C T exonic OR4A15 NA nonsynonymous SNV OR4A15:NM_001005275:exon1:c.C76T:p.P26S exonic ENSG00000181958 NA nonsynonymous SNV ENSG00000181958:ENST00000314706:exon1:c.C76T:p.P26S NA NA 11q11 NA NA NA NA rs1425193 0.26 0.26 0.222 0.227436 0.2823 0.3869 0.3141 0.0159 0.2311 0.29 0.37 0.34 0.03 0.2727 0.37 0.85 T 0.0 B 0.001 B . . 1.000 P 0 N 1.19 T -0.949 T 0.000 T 0.054 1.101 9.493 -2.65 -0.268 . 0.931 1.101203 NA 0.5 0.26548 0.062472 NA 0.196 NA 7.5128534 909 3 195515617 195515617 G C exonic MUC4 NA nonsynonymous SNV MUC4:NM_018406:exon2:c.C2834G:p.T945S exonic ENSG00000145113 NA nonsynonymous SNV ENSG00000145113:ENST00000462323:exon2:c.C2834G:p.T945S,ENSG00000145113:ENST00000463781:exon2:c.C2834G:p.T945S,ENSG00000145113:ENST00000466475:exon2:c.C2834G:p.T945S,ENSG00000145113:ENST00000470451:exon2:c.C2834G:p.T945S,ENSG00000145113:ENST00000475231:exon2:c.C2834G:p.T945S,ENSG00000145113:ENST00000477086:exon2:c.C2834G:p.T945S,ENSG00000145113:ENST00000477756:exon2:c.C2834G:p.T945S,ENSG00000145113:ENST00000478156:exon2:c.C2834G:p.T945S,ENSG00000145113:ENST00000479406:exon2:c.C2834G:p.T945S,ENSG00000145113:ENST00000480843:exon2:c.C2834G:p.T945S NA NA 3q29 NA NA NA NA rs2641776 0.92 0.92 0.921 0.922125 0.9453 0.8254 0.9697 0.9985 0.8609 0.95 0.79 0.96 1 0.9327 1 0.93 T 0.006 B 0.004 B 0.058 N 1.000 P . . 1.79 T -0.999 T 0.000 T 0.028 -0.277 2.671 -5.56 -2.853 -3.553 8.819 -0.277468 NA 1 0.942814 0.98895 NA 0.935 NA 7.5125194 909 8 124664594 124664594 C T exonic KLHL38 NA synonymous SNV KLHL38:NM_001081675:exon1:c.G573A:p.G191G exonic ENSG00000175946 NA synonymous SNV ENSG00000175946:ENST00000325995:exon1:c.G573A:p.G191G Score=564;Name=lod=262 NA 8q24.13 Score=916;Name=V$CEBP_01 NA NA NA rs61730397 0.03 0.03 0.022 0.0191693 0.0557 NA 0.0216 0.0038 0.0204 0.05 0.0035 0.04 0.01 0.0419 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 0.722145 NA NA 0.056577 0.010472 ID=COSM453968;OCCURENCE=1(breast) 0.014 NA 7.5124896 909 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 909 5 14741984 14741984 T C exonic ANKH NA synonymous SNV ANKH:NM_054027:exon8:c.A963G:p.A321A exonic ENSG00000154122 NA synonymous SNV ENSG00000154122:ENST00000535119:exon4:c.A369G:p.A123A,ENSG00000154122:ENST00000284268:exon8:c.A963G:p.A321A NA NA 5p15.2 Score=798;Name=V$XBP1_01 NA Name=9 NA rs2288474 0.09 0.09 0.065 0.0838658 0.0427 0.121 0.1441 0.0794 0.0511 0.04 0.13 0.11 0.1 0.0672 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159944 NA NA 0.044767 0.084657 ID=COSM149799;OCCURENCE=1(stomach) 0.058 NA 7.5119996 909 2 169997051 169997051 G A exonic LRP2 NA synonymous SNV LRP2:NM_004525:exon72:c.C13113T:p.I4371I exonic ENSG00000081479 NA synonymous SNV ENSG00000081479:ENST00000263816:exon72:c.C13113T:p.I4371I Score=490;Name=lod=131 NA 2q31.1 Score=789;Name=V$COMP1_01 NA Name=2 NA rs990626 0.54 0.54 0.492 0.559505 0.7266 0.4752 0.6888 0.2663 0.7791 0.73 0.44 0.68 0.25 0.6839 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415854 NA NA 0.744535 0.321834 NA 0.507 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117510.2;CLNDSDB=.;CLNDSDBID=. 7.5116316 909 2 96781853 96781853 T C exonic ADRA2B NA synonymous SNV ADRA2B:NM_000682:exon1:c.A36G:p.T12T exonic ENSG00000222040 NA synonymous SNV ENSG00000222040:ENST00000409345:exon1:c.A36G:p.T12T NA NA 2q11.1 Score=786;Name=V$YY1_02 Name=YY1_(C-20) NA NA rs9333567 0.1 0.1 0.059 0.0964457 0.0398 0.2014 0.1326 0.0847 0.0368 0.04 0.18 0.12 0.07 0.0729 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864994 NA NA 0.042409 0.059512 NA 0.116 NA 7.5115576 909 3 58081888 58081888 T C exonic FLNB NA synonymous SNV FLNB:NM_001164317:exon6:c.T927C:p.S309S,FLNB:NM_001164318:exon6:c.T927C:p.S309S,FLNB:NM_001164319:exon6:c.T927C:p.S309S,FLNB:NM_001457:exon6:c.T927C:p.S309S exonic ENSG00000136068 NA synonymous SNV ENSG00000136068:ENST00000419752:exon5:c.T420C:p.S140S,ENSG00000136068:ENST00000493452:exon5:c.T420C:p.S140S,ENSG00000136068:ENST00000295956:exon6:c.T927C:p.S309S,ENSG00000136068:ENST00000348383:exon6:c.T927C:p.S309S,ENSG00000136068:ENST00000357272:exon6:c.T927C:p.S309S,ENSG00000136068:ENST00000358537:exon6:c.T927C:p.S309S,ENSG00000136068:ENST00000429972:exon6:c.T927C:p.S309S,ENSG00000136068:ENST00000490882:exon6:c.T927C:p.S309S Score=566;Name=lod=266 NA 3p14.3 Score=687;Name=V$BRACH_01 Name=Pol2(b) NA NA rs1522384 0.6 0.6 0.579 0.641973 0.3668 0.9772 0.5821 0.5825 0.7025 0.37 0.97 0.54 0.58 0.4647 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 1.238723 1.238723 NA 0.324419 0.533137 NA 0.507 NA 7.5107476 909 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 909 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 909 20 44512638 44512638 G T exonic ZSWIM1 NA synonymous SNV ZSWIM1:NM_080603:exon2:c.G1407T:p.L469L exonic ENSG00000168612 NA synonymous SNV ENSG00000168612:ENST00000372520:exon2:c.G1407T:p.L469L,ENSG00000168612:ENST00000372523:exon2:c.G1407T:p.L469L Score=462;Name=lod=101 NA 20q13.12 NA NA Name=11 NA rs34017227 0.04 0.04 0.044 0.023762 0.0696 NA 0.0245 0.0189 0.0072 0.07 NA 0.03 0.03 0.04 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 0.353303 NA NA 0.047093 0.03064 NA 0.014 NA 7.5099736 909 5 140256920 140256920 G C exonic PCDHA12 NA synonymous SNV PCDHA12:NM_018903:exon1:c.G1863C:p.P621P,PCDHA12:NM_031864:exon1:c.G1863C:p.P621P exonic ENSG00000251664 NA synonymous SNV ENSG00000251664:ENST00000398631:exon1:c.G1863C:p.P621P Score=417;Name=lod=66 NA 5q31.3 Score=836;Name=V$FAC1_01 NA NA NA rs115718636 0.04 0.04 0.043 0.0221645 0.0656 NA 0.0303 0.0129 0.0072 0.07 NA 0.05 0.02 0.0403 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.823665 NA NA 0.050826 0.026555 NA 0.014 NA 7.5099406 909 1 22174518 22174518 G T exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon60:c.C7806A:p.V2602V exonic ENSG00000142798 NA synonymous SNV ENSG00000142798:ENST00000374695:exon60:c.C7806A:p.V2602V Score=259;Name=lod=15 NA 1p36.12 Score=945;Name=V$CREBP1CJUN_01 NA NA NA rs12737091 0.02 0.02 0.02 0.0347444 0.0487 NA 0.0245 0.0015 0.1084 0.05 NA 0.03 0.0041 0.0511 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 0.448032 NA NA 0.057093 0.009305 NA 0.022 NA 7.5097736 909 6 51613177 51613177 C T exonic PKHD1 NA synonymous SNV PKHD1:NM_138694:exon58:c.G9237A:p.A3079A,PKHD1:NM_170724:exon58:c.G9237A:p.A3079A exonic ENSG00000170927 NA synonymous SNV ENSG00000170927:ENST00000340994:exon58:c.G9237A:p.A3079A,ENSG00000170927:ENST00000371117:exon58:c.G9237A:p.A3079A Score=462;Name=lod=101 NA 6p12.3 Score=840;Name=V$TST1_01 NA NA NA rs765525 0.41 0.41 0.36 0.385982 0.3926 0.6548 0.4769 0.0318 0.5164 0.41 0.69 0.46 0.04 0.4041 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.251378 NA NA 0.36186 0.102587 NA 0.377 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082591.1;CLNDSDB=.;CLNDSDBID=. 7.5081066 909 3 175473047 175473047 T C exonic NAALADL2 NA nonsynonymous SNV NAALADL2:NM_207015:exon13:c.T2030C:p.L677S exonic ENSG00000177694 NA nonsynonymous SNV ENSG00000177694:ENST00000454872:exon13:c.T2030C:p.L677S NA NA 3q26.31 NA NA NA NA rs9826737 0.97 0.97 0.968 0.980232 0.9354 1 0.9683 0.997 0.9918 0.93 1 0.96 1 0.9536 1 1 T 0.0 B 0.0 B 0.012 N 1.000 P -0.805 N 1.64 T -0.938 T 0.000 T 0.044 -0.167 3.187 5.71 1.432 2.214 6.341 -0.166571 NA 0.43 0.936508 0.989036 NA 0.978 NA 7.5078254 909 1 109479978 109479978 G T exonic CLCC1 NA nonsynonymous SNV CLCC1:NM_001048210:exon10:c.C1104A:p.S368R,CLCC1:NM_015127:exon10:c.C954A:p.S318R exonic ENSG00000121940 NA nonsynonymous SNV ENSG00000121940:ENST00000348264:exon5:c.C549A:p.S183R,ENSG00000121940:ENST00000369968:exon5:c.C549A:p.S183R,ENSG00000121940:ENST00000302500:exon7:c.C741A:p.S247R,ENSG00000121940:ENST00000369969:exon7:c.C741A:p.S247R,ENSG00000121940:ENST00000369970:exon9:c.C954A:p.S318R,ENSG00000121940:ENST00000356970:exon10:c.C1104A:p.S368R,ENSG00000121940:ENST00000369971:exon10:c.C1104A:p.S368R,ENSG00000121940:ENST00000415331:exon10:c.C954A:p.S318R NA NA 1p13.3 Score=836;Name=V$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 909 9 126219706 126219706 A G exonic DENND1A NA synonymous SNV DENND1A:NM_020946:exon15:c.T1107C:p.D369D,DENND1A:NM_024820:exon15:c.T1107C:p.D369D exonic ENSG00000119522 NA synonymous SNV ENSG00000119522:ENST00000542603:exon6:c.T333C:p.D111D,ENSG00000119522:ENST00000394219:exon13:c.T1011C:p.D337D,ENSG00000119522:ENST00000373618:exon14:c.T1011C:p.D337D,ENSG00000119522:ENST00000394215:exon14:c.T1017C:p.D339D,ENSG00000119522:ENST00000373620:exon15:c.T1107C:p.D369D,ENSG00000119522:ENST00000373624:exon15:c.T1107C:p.D369D Score=525;Name=lod=181 NA 9q33.3 Score=900;Name=V$CDPCR1_01 NA NA NA rs3829851 0.06 0.06 0.072 0.0555112 0.0467 0.0754 0.0288 0.0598 0.0573 0.05 0.09 0.02 0.06 0.0575 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.24772 1.24772 NA 0.055 0.049705 ID=COSM150712;OCCURENCE=1(stomach) 0.065 NA 7.5074666 909 3 31712393 31712393 C T exonic OSBPL10 NA synonymous SNV OSBPL10:NM_001174060:exon8:c.G1617A:p.P539P,OSBPL10:NM_017784:exon9:c.G1809A:p.P603P exonic ENSG00000144645 NA synonymous SNV ENSG00000144645:ENST00000438237:exon8:c.G1617A:p.P539P,ENSG00000144645:ENST00000396556:exon9:c.G1809A:p.P603P NA NA 3p23 NA NA NA NA rs3749405 0.56 0.56 0.564 0.565495 0.3728 0.6756 0.4107 0.854 0.3701 0.37 0.66 0.41 0.84 0.4289 0.84 . . . . . . . . 0.000 P . . . . -1.016 T 0.000 T . -1.233 0.057 -10.9 -6.038 -6.416 1.953 -1.232567 NA NA 0.358837 0.75783 NA 0.522 NA 7.5061296 909 6 31525912 31525912 C T exonic NFKBIL1 NA nonsynonymous SNV NFKBIL1:NM_001144961:exon4:c.C625T:p.R209C,NFKBIL1:NM_001144962:exon4:c.C601T:p.R201C,NFKBIL1:NM_001144963:exon4:c.C556T:p.R186C,NFKBIL1:NM_005007:exon4:c.C670T:p.R224C exonic ENSG00000204498 NA nonsynonymous SNV ENSG00000204498:ENST00000376145:exon4:c.C625T:p.R209C,ENSG00000204498:ENST00000376146:exon4:c.C601T:p.R201C,ENSG00000204498:ENST00000376148:exon4:c.C670T:p.R224C NA NA 6p21.33 NA NA NA NA rs3130062 0.97 0.97 0.97 0.982029 0.9414 1 0.9625 0.9962 1 0.93 1 0.97 0.99 0.9566 1 0.17 T 0.0 B 0.0 B 0.076 N 1.000 P . . 1.03 T -1.097 T 0.033 T 0.043 0.616 7.317 -8.89 -2.060 -1.204 16.279 0.616203 NA 0.01 0.92931 0.98277 NA 0.942 NA 7.5060234 909 19 1061804 1061804 T C exonic ABCA7 NA synonymous SNV ABCA7:NM_019112:exon41:c.T5487C:p.N1829N exonic ENSG00000064687 NA synonymous SNV ENSG00000064687:ENST00000435683:exon35:c.T5073C:p.N1691N,ENSG00000064687:ENST00000433129:exon40:c.T5487C:p.N1829N,ENSG00000064687:ENST00000263094:exon41:c.T5487C:p.N1829N Score=536;Name=lod=201 NA 19p13.3 Score=694;Name=V$BRACH_01 NA NA NA rs78320196 0.04 0.04 0.027 0.0597045 0.0567 0.0337 0.0418 0.025 0.1493 0.07 0.03 0.04 0.02 0.0585 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 0.996986 NA NA 0.045581 0.026567 NA 0.022 NA 7.5058856 909 8 33356074 33356074 A G exonic MAK16 NA nonsynonymous SNV MAK16:NM_032509:exon10:c.A830G:p.Q277R exonic ENSG00000198042 NA nonsynonymous SNV ENSG00000198042:ENST00000360128:exon10:c.A830G:p.Q277R NA NA 8p12 NA NA NA NA rs6468171 0.58 0.58 0.604 0.553315 0.6322 0.4851 0.4914 0.6762 0.4202 0.62 0.49 0.5 0.69 0.5724 0.69 1 T 0.0 B 0.0 B 0.288 N 0.987 P -1.3 N 1.04 T -1.008 T 0.000 T 0.025 -1.88 0.008 -7.74 -1.724 0.068 11.616 -1.880408 NA 1 0.623488 0.682025 NA 0.63 NA 7.5052454 910 6 102266322 102266322 C G exonic GRIK2 NA synonymous SNV GRIK2:NM_001166247:exon9:c.C1281G:p.S427S,GRIK2:NM_021956:exon9:c.C1281G:p.S427S,GRIK2:NM_175768:exon9:c.C1281G:p.S427S exonic ENSG00000164418 NA synonymous SNV ENSG00000164418:ENST00000436862:exon1:c.C78G:p.S26S,ENSG00000164418:ENST00000455610:exon5:c.C420G:p.S140S,ENSG00000164418:ENST00000318991:exon9:c.C1281G:p.S427S,ENSG00000164418:ENST00000369134:exon9:c.C1134G:p.S378S,ENSG00000164418:ENST00000369137:exon9:c.C1281G:p.S427S,ENSG00000164418:ENST00000369138:exon9:c.C1281G:p.S427S,ENSG00000164418:ENST00000413795:exon9:c.C1281G:p.S427S,ENSG00000164418:ENST00000421544:exon9:c.C1281G:p.S427S Score=677;Name=lod=754 NA 6q16.3 NA NA NA NA rs34747916 0.04 0.04 0.024 0.0327476 0.0537 0.0268 0.0504 0.0121 0.0327 0.06 0.02 0.05 0.01 0.0467 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 0.785093 NA NA 0.061279 0.017249 NA 0.08 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117159.2;CLNDSDB=.;CLNDSDBID=. 7.5049876 910 22 25119210 25119210 A C exonic PIWIL3 NA synonymous SNV PIWIL3:NM_001008496:exon19:c.T2271G:p.A757A,PIWIL3:NM_001255975:exon19:c.T2244G:p.A748A exonic ENSG00000184571 NA synonymous SNV ENSG00000184571:ENST00000332271:exon19:c.T2271G:p.A757A,ENSG00000184571:ENST00000527701:exon20:c.T1917G:p.A639A,ENSG00000184571:ENST00000533313:exon20:c.T1917G:p.A639A Score=497;Name=lod=140 NA 22q11.23 NA NA Name=10 NA rs56199175 0.07 0.07 0.072 0.0798722 0.0467 0.0893 0.0548 0.0681 0.138 0.04 0.11 0.08 0.06 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 -0.444126 NA NA 0.049895 0.065138 NA 0.08 NA 7.5042716 910 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 910 2 31562412 31562412 C T exonic XDH NA synonymous SNV XDH:NM_000379:exon34:c.G3717A:p.E1239E exonic ENSG00000158125 NA synonymous SNV ENSG00000158125:ENST00000379416:exon34:c.G3717A:p.E1239E Score=289;Name=lod=20 NA 2p23.1 Score=864;Name=V$SOX9_B1 NA NA NA rs207440 0.04 0.04 0.041 0.0401358 0.0477 0.0079 0.0259 0.0514 0.0603 0.04 0.01 0.03 0.06 0.051 0.064 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.046583 NA NA 0.063721 0.05606 NA 0.072 NA 7.5042456 910 4 37903756 37903756 T C exonic TBC1D1 NA nonsynonymous SNV TBC1D1:NM_001253912:exon2:c.T40C:p.S14P,TBC1D1:NM_015173:exon2:c.T40C:p.S14P exonic ENSG00000065882 NA nonsynonymous SNV ENSG00000065882:ENST00000510573:exon1:c.T40C:p.S14P,ENSG00000065882:ENST00000261439:exon2:c.T40C:p.S14P,ENSG00000065882:ENST00000402522:exon2:c.T40C:p.S14P,ENSG00000065882:ENST00000508802:exon2:c.T40C:p.S14P NA NA 4p14 NA NA NA NA rs2279027 0.68 0.68 0.694 0.704073 0.6103 0.6577 0.5937 0.879 0.6902 0.63 0.64 0.59 0.89 0.6248 0.89 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.895 N 2.56 T -0.984 T 0.000 T 0.036 -1.713 0.011 4.9 1.474 0.222 10.365 -1.713289 NA 1 0.594419 0.836133 NA 0.623 NA 7.5038144 910 X 129283520 129283520 A G exonic AIFM1 NA synonymous SNV AIFM1:NM_001130847:exon3:c.T273C:p.D91D,AIFM1:NM_004208:exon3:c.T273C:p.D91D,AIFM1:NM_145812:exon3:c.T261C:p.D87D exonic ENSG00000156709 NA stoploss ENSG00000156709:ENST00000527892:exon2:c.T130C:p.X44R Score=358;Name=lod=38 NA Xq26.1 Score=871;Name=V$TATA_01 NA NA NA rs1139851 0.46 0.46 0.43402 NA NA NA NA NA NA 0.42 0.2 0.54 0.73 0.4329 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 0.440008 NA NA 0.397146 0.70754 ID=COSM1465605,COSM1465604;OCCURENCE=4(large_intestine) 0.406 NA 7.5032873 910 2 159663616 159663616 G A exonic DAPL1 NA nonsynonymous SNV DAPL1:NM_001017920:exon3:c.G196A:p.A66T exonic ENSG00000163331 NA nonsynonymous SNV ENSG00000163331:ENST00000309950:exon3:c.G196A:p.A66T,ENSG00000163331:ENST00000409042:exon3:c.G196A:p.A66T NA NA 2q24.1 NA NA Name=19 NA rs12535 0.14 0.14 0.149 0.111621 0.3002 0.0317 0.1369 0.0174 0.1094 0.3 0.02 0.18 0.01 0.2271 0.3 1 T 0.0 B 0.0 B 0.225 N 1.000 P -0.35 N 1.41 T -0.932 T 0.000 T 0.254 -1.648 0.012 1.93 0.148 0.338 4.509 -1.648425 NA 0.61 0.302791 0.058103 NA 0.152 NA 7.5032424 910 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 910 12 2788810 2788810 C T exonic CACNA1C NA synonymous SNV CACNA1C:NM_001129837:exon41:c.C5316T:p.N1772N,CACNA1C:NM_001129838:exon41:c.C5316T:p.N1772N,CACNA1C:NM_001129839:exon41:c.C5310T:p.N1770N,CACNA1C:NM_001129846:exon41:c.C5259T:p.N1753N,CACNA1C:NM_001167625:exon41:c.C5259T:p.N1753N,CACNA1C:NM_000719:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129829:exon42:c.C5415T:p.N1805N,CACNA1C:NM_001129830:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129833:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129834:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129835:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129836:exon42:c.C5343T:p.N1781N,CACNA1C:NM_001129840:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129841:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129842:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129843:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129844:exon42:c.C5283T:p.N1761N,CACNA1C:NM_001167623:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001167624:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129831:exon43:c.C5376T:p.N1792N,CACNA1C:NM_001129832:exon43:c.C5352T:p.N1784N,CACNA1C:NM_001129827:exon44:c.C5436T:p.N1812N,CACNA1C:NM_199460:exon44:c.C5436T:p.N1812N exonic ENSG00000151067 NA synonymous SNV ENSG00000151067:ENST00000399591:exon41:c.C5316T:p.N1772N,ENSG00000151067:ENST00000399595:exon41:c.C5316T:p.N1772N,ENSG00000151067:ENST00000399649:exon41:c.C5310T:p.N1770N,ENSG00000151067:ENST00000327702:exon42:c.C5292T:p.N1764N,ENSG00000151067:ENST00000344100:exon42:c.C5415T:p.N1805N,ENSG00000151067:ENST00000399597:exon42:c.C5292T:p.N1764N,ENSG00000151067:ENST00000399601:exon42:c.C5292T:p.N1764N,ENSG00000151067:ENST00000399603:exon42:c.C5292T:p.N1764N,ENSG00000151067:ENST00000399617:exon42:c.C5292T:p.N1764N,ENSG00000151067:ENST00000399621:exon42:c.C5349T:p.N1783N,ENSG00000151067:ENST00000399629:exon42:c.C5343T:p.N1781N,ENSG00000151067:ENST00000399634:exon42:c.C5292T:p.N1764N,ENSG00000151067:ENST00000399637:exon42:c.C5349T:p.N1783N,ENSG00000151067:ENST00000399641:exon42:c.C5292T:p.N1764N,ENSG00000151067:ENST00000399644:exon42:c.C5292T:p.N1764N,ENSG00000151067:ENST00000399655:exon42:c.C5292T:p.N1764N,ENSG00000151067:ENST00000402845:exon42:c.C5349T:p.N1783N,ENSG00000151067:ENST00000406454:exon42:c.C5292T:p.N1764N,ENSG00000151067:ENST00000335762:exon43:c.C5367T:p.N1789N,ENSG00000151067:ENST00000399606:exon43:c.C5352T:p.N1784N,ENSG00000151067:ENST00000399638:exon43:c.C5376T:p.N1792N,ENSG00000151067:ENST00000347598:exon44:c.C5436T:p.N1812N Score=566;Name=lod=267 NA 12p13.33 Score=860;Name=V$ZID_01 NA NA NA rs72552065 0.03 0.03 0.022 0.019369 0.0577 NA 0.0418 0.0023 0.0072 0.05 NA 0.06 0.002 0.0454 0.061 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.76702 NA NA 0.061265 0.011521 NA NA NA 7.5023016 910 14 57072338 57072338 C T exonic TMEM260 NA synonymous SNV TMEM260:NM_017799:exon5:c.C573T:p.H191H exonic ENSG00000070269 NA synonymous SNV ENSG00000070269:ENST00000261556:exon5:c.C573T:p.H191H,ENSG00000070269:ENST00000538838:exon5:c.C573T:p.H191H,ENSG00000070269:ENST00000539559:exon5:c.C573T:p.H191H,ENSG00000070269:ENST00000556422:exon5:c.C105T:p.H35H Score=588;Name=lod=327 NA 14q22.3 Score=833;Name=V$AHRARNT_01 NA NA NA rs3737170 0.12 0.12 0.13 0.128395 0.0398 0.1825 0.0591 0.2466 0.0532 0.04 0.15 0.06 0.25 0.0761 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.96009 NA NA 0.048522 0.231153 NA 0.138 NA 7.5022446 910 7 2629729 2629729 G A exonic IQCE NA synonymous SNV IQCE:NM_001100390:exon13:c.G1185A:p.L395L,IQCE:NM_152558:exon14:c.G1233A:p.L411L exonic ENSG00000106012 NA synonymous SNV ENSG00000106012:ENST00000325979:exon12:c.G1038A:p.L346L,ENSG00000106012:ENST00000325997:exon12:c.G1038A:p.L346L,ENSG00000106012:ENST00000404984:exon13:c.G1080A:p.L360L,ENSG00000106012:ENST00000438376:exon13:c.G1185A:p.L395L,ENSG00000106012:ENST00000402050:exon14:c.G1233A:p.L411L Score=295;Name=lod=21 NA 7p22.3 Score=896;Name=V$MYOD_01,V$E47_02 NA NA NA rs61753096 0.03 0.03 0.028 0.0199681 0.0646 NA 0.0303 0.0023 0.0112 0.06 NA 0.03 0.002 0.0442 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 -0.576486 NA NA 0.056865 0.009906 NA 0.029 NA 7.5010016 910 1 47080679 47080679 G A exonic MOB3C NA stopgain MOB3C:NM_145279:exon1:c.C70T:p.R24X exonic ENSG00000142961 NA stopgain ENSG00000142961:ENST00000271139:exon1:c.C70T:p.R24X NA NA 1p33 NA NA NA NA rs6671527 0.62 0.62 0.624 0.642173 0.4751 0.9256 0.5202 0.5643 0.7137 0.46 0.93 0.53 0.55 0.5572 0.93 0.19 T . . . . . . 0.000 P . . . . . . . . . 3.391 17.44 2.2 0.145 -0.426 5.311 3.390983 3.390983 NA 0.468488 0.557876 NA 0.652 NA 7.499212 910 17 73485707 73485707 G A exonic KIAA0195 NA synonymous SNV KIAA0195:NM_014738:exon9:c.G918A:p.G306G exonic ENSG00000177728 NA synonymous SNV ENSG00000177728:ENST00000375248:exon8:c.G948A:p.G316G,ENSG00000177728:ENST00000314256:exon9:c.G918A:p.G306G Score=432;Name=lod=76 NA 17q25.1 Score=787;Name=V$STAT3_01 NA NA NA rs34364349 0.04 0.04 0.03 0.0347444 0.0755 0.001 0.0375 0.0386 0.0204 0.07 0.0017 0.04 0.03 0.0366 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 1.32978 1.32978 NA 0.055698 0.042442 NA 0.007 NA 7.4988686 910 14 50101370 50101370 G A exonic DNAAF2 NA synonymous SNV DNAAF2:NM_001083908:exon1:c.C498T:p.A166A,DNAAF2:NM_018139:exon1:c.C498T:p.A166A exonic ENSG00000165506 NA synonymous SNV ENSG00000165506:ENST00000298292:exon1:c.C498T:p.A166A,ENSG00000165506:ENST00000406043:exon1:c.C498T:p.A166A Score=497;Name=lod=139 NA 14q21.3 NA Name=NFKB,Pol2-4H8,E2F6,E2F6_(H-50),Pol2,ELK4 Name=148 NA rs2985685 0.52 0.52 0.516 0.493411 0.7575 0.1736 0.6412 0.4395 0.5194 0.75 0.19 0.65 0.45 0.6525 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 0.402214 NA NA 0.760111 0.526235 ID=COSM1477582,COSM1477583;OCCURENCE=1(breast) 0.13 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081942.1;CLNDSDB=.;CLNDSDBID=. 7.4965556 910 16 4164337 4164337 C T exonic ADCY9 NA synonymous SNV ADCY9:NM_001116:exon2:c.G1107A:p.R369R exonic ENSG00000162104 NA synonymous SNV ENSG00000162104:ENST00000294016:exon2:c.G1107A:p.R369R Score=576;Name=lod=292 NA 16p13.3 NA NA Name=4 NA rs887248 0.03 0.03 0.021 0.019369 0.0616 NA 0.0274 0.0023 0.0133 0.06 NA 0.03 0.01 0.0444 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 0.362754 NA NA 0.064419 0.012517 NA 0.022 NA 7.4962476 910 6 76576290 76576290 C T exonic MYO6 NA synonymous SNV MYO6:NM_004999:exon17:c.C1722T:p.D574D exonic ENSG00000196586 NA synonymous SNV ENSG00000196586:ENST00000369975:exon16:c.C1722T:p.D574D,ENSG00000196586:ENST00000369977:exon17:c.C1722T:p.D574D,ENSG00000196586:ENST00000369981:exon17:c.C1722T:p.D574D,ENSG00000196586:ENST00000369985:exon17:c.C1722T:p.D574D Score=567;Name=lod=268 NA 6q14.1 NA NA NA NA rs11756446 0.03 0.03 0.029 0.0289537 0.0577 0.0129 0.0331 0.0023 0.0491 0.06 0.01 0.04 0.002 0.0519 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 0.170703 NA NA 0.06093 0.009532 NA 0.051 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038289.1;CLNDSDB=.;CLNDSDBID=. 7.4961366 910 1 6184092 6184092 A G exonic CHD5 NA nonsynonymous SNV CHD5:NM_015557:exon31:c.T4615C:p.S1539P exonic ENSG00000116254 NA nonsynonymous SNV ENSG00000116254:ENST00000262450:exon31:c.T4615C:p.S1539P,ENSG00000116254:ENST00000378021:exon31:c.T1186C:p.S396P Score=414;Name=lod=64 NA 1p36.31 NA NA NA NA rs2843493 0.7 0.7 0.661 0.727636 0.5994 0.994 0.5994 0.612 0.8323 0.59 0.99 0.61 0.61 0.657 0.99 0.35 T 0.0 B 0.0 B 0.024 N 1.000 P -0.345 N 2.15 T -0.976 T 0.000 T 0.022 1.539 11.1 3.35 0.939 0.402 6.147 1.539303 1.539303 0.28 0.581279 0.600999 NA 0.58 NA 7.4956544 910 11 66458980 66458980 G A exonic SPTBN2 NA synonymous SNV SPTBN2:NM_006946:exon26:c.C5340T:p.N1780N exonic ENSG00000173898 NA synonymous SNV ENSG00000173898:ENST00000529997:exon25:c.C5340T:p.N1780N,ENSG00000173898:ENST00000309996:exon26:c.C5340T:p.N1780N,ENSG00000173898:ENST00000533211:exon27:c.C5340T:p.N1780N Score=596;Name=lod=353 NA 11q13.2 Score=682;Name=V$PPARG_02 NA NA NA rs623022 0.07 0.07 0.04 0.063099 0.0557 0.1329 0.0533 0.003 0.0869 0.06 0.15 0.06 0.0041 0.0659 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.013339 NA NA 0.049709 0.010455 NA 0.058 NA 7.4953576 910 17 8243785 8243785 A G exonic ODF4 NA nonsynonymous SNV ODF4:NM_153007:exon1:c.A416G:p.Y139C exonic ENSG00000184650 NA nonsynonymous SNV ENSG00000184650:ENST00000328248:exon1:c.A416G:p.Y139C NA NA 17p13.1 NA NA NA NA rs12936935 0.56 0.56 0.576 0.538938 0.6223 0.3214 0.647 0.6528 0.4468 0.63 0.35 0.64 0.63 0.5895 0.65 1 T 0.0 B 0.0 B 0.024 N 1.000 P -1.245 N 1.88 T -0.935 T 0.000 T 0.081 -1.223 0.062 3.92 0.672 1.156 7.442 -1.222525 NA NA 0.626279 0.653654 NA 0.587 NA 7.4952544 911 17 73824121 73824121 T C exonic UNC13D NA synonymous SNV UNC13D:NM_199242:exon32:c.A3198G:p.E1066E exonic ENSG00000092929 NA synonymous SNV ENSG00000092929:ENST00000207549:exon32:c.A3198G:p.E1066E,ENSG00000092929:ENST00000412096:exon32:c.A3198G:p.E1066E Score=534;Name=lod=198 NA 17q25.1 NA Name=BCL3 Name=109 NA rs7210574 0.52 0.52 0.567 0.526158 0.34 0.4365 0.3372 0.9614 0.3558 0.33 0.5 0.38 0.96 0.4844 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 1.259134 1.259134 NA 0.347375 0.857306 NA 0.478 NA 7.4948916 911 1 13940864 13940864 C G exonic PDPN NA nonsynonymous SNV PDPN:NM_001006624:exon5:c.C314G:p.A105G,PDPN:NM_001006625:exon5:c.C314G:p.A105G,PDPN:NM_006474:exon5:c.C668G:p.A223G,PDPN:NM_198389:exon5:c.C668G:p.A223G exonic ENSG00000162493 NA nonsynonymous SNV ENSG00000162493:ENST00000294489:exon5:c.C668G:p.A223G,ENSG00000162493:ENST00000376057:exon5:c.C668G:p.A223G,ENSG00000162493:ENST00000376061:exon5:c.C314G:p.A105G,ENSG00000162493:ENST00000475043:exon5:c.C314G:p.A105G,ENSG00000162493:ENST00000487038:exon5:c.C314G:p.A105G,ENSG00000162493:ENST00000509009:exon5:c.C425G:p.A142G,ENSG00000162493:ENST00000510906:exon5:c.C641G:p.A214G,ENSG00000162493:ENST00000513143:exon6:c.C314G:p.A105G Score=259;Name=lod=15 NA 1p36.21 NA NA NA NA rs2486188 0.97 0.97 0.978 0.98143 0.9304 1 0.9885 0.9985 0.9867 0.92 1 0.99 1 0.9552 1 1 T 0.0 B 0.0 B 0.018 N 1.000 P -1.5 N 2.71 T -0.947 T 0.000 T 0.091 0.231 5.245 5.93 1.545 0.521 13.370 0.230654 NA 0.92 0.954767 0.990468 NA 0.986 NA 7.4929664 911 6 52849325 52849325 C T exonic GSTA4 NA synonymous SNV GSTA4:NM_001512:exon5:c.G351A:p.Q117Q exonic ENSG00000170899 NA synonymous SNV ENSG00000170899:ENST00000370960:exon2:c.G72A:p.Q24Q,ENSG00000170899:ENST00000457564:exon2:c.G72A:p.Q24Q,ENSG00000170899:ENST00000541324:exon3:c.G72A:p.Q24Q,ENSG00000170899:ENST00000370959:exon5:c.G351A:p.Q117Q,ENSG00000170899:ENST00000370963:exon5:c.G351A:p.Q117Q NA NA 6p12.2 NA Name=EBF1_(C-8) Name=44 NA rs1802061 0.02 0.02 0.029 0.0227636 0.0557 NA 0.0187 0.0023 0.0429 0.06 NA 0.02 NA 0.0501 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 0.487672 NA NA 0.068372 0.014299 NA 0.029 NA 7.4924946 911 19 6665020 6665020 T C exonic TNFSF14 NA nonsynonymous SNV TNFSF14:NM_003807:exon5:c.A640G:p.K214E,TNFSF14:NM_172014:exon5:c.A532G:p.K178E exonic ENSG00000125735 NA nonsynonymous SNV ENSG00000125735:ENST00000245912:exon4:c.A532G:p.K178E,ENSG00000125735:ENST00000326176:exon5:c.A532G:p.K178E,ENSG00000125735:ENST00000599359:exon5:c.A640G:p.K214E Score=346;Name=lod=34 NA 19p13.3 NA NA NA NA rs344560 0.96 0.96 0.96 0.959665 0.9483 0.9405 0.9323 0.9947 0.9632 0.95 0.94 0.95 1 0.9484 1 1 T 0.0 B 0.0 B 0.016 N 1.000 P -0.215 N -3.41 D -0.941 T 0.000 T 0.106 -0.38 2.213 2.32 0.355 0.128 8.467 -0.380335 NA 1 0.944884 0.984113 NA 0.949 NA 7.4917494 911 13 76055820 76055820 G C exonic TBC1D4 NA synonymous SNV TBC1D4:NM_014832:exon1:c.C84G:p.P28P exonic ENSG00000136111 NA synonymous SNV ENSG00000136111:ENST00000377625:exon1:c.C84G:p.P28P,ENSG00000136111:ENST00000377636:exon1:c.C84G:p.P28P,ENSG00000136111:ENST00000431480:exon1:c.C84G:p.P28P NA NA 13q22.2 NA Name=ZNF263,HA-E2F1 Name=137 NA rs7327548 0.38 0.38 0.375 0.35623 0.3976 0.2153 0.3573 0.5492 0.1973 0.39 0.23 0.38 0.53 0.3842 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.759353 NA NA 0.393279 0.516863 NA 0.232 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118597.2;CLNDSDB=.;CLNDSDBID=. 7.4915876 911 X 31496350 31496350 C T exonic DMD NA nonsynonymous SNV DMD:NM_004014:exon5:c.G623A:p.R208Q,DMD:NM_004013:exon16:c.G1430A:p.R477Q,DMD:NM_004020:exon16:c.G1430A:p.R477Q,DMD:NM_004021:exon16:c.G1430A:p.R477Q,DMD:NM_004022:exon16:c.G1430A:p.R477Q,DMD:NM_004023:exon16:c.G1430A:p.R477Q,DMD:NM_004011:exon31:c.G4787A:p.R1596Q,DMD:NM_004012:exon31:c.G4778A:p.R1593Q,DMD:NM_004007:exon58:c.G8441A:p.R2814Q,DMD:NM_000109:exon59:c.G8786A:p.R2929Q,DMD:NM_004006:exon59:c.G8810A:p.R2937Q,DMD:NM_004009:exon59:c.G8798A:p.R2933Q,DMD:NM_004010:exon59:c.G8441A:p.R2814Q exonic ENSG00000198947 NA nonsynonymous SNV ENSG00000198947:ENST00000358062:exon12:c.G1898A:p.R633Q,ENSG00000198947:ENST00000343523:exon16:c.G1430A:p.R477Q,ENSG00000198947:ENST00000359836:exon16:c.G1430A:p.R477Q,ENSG00000198947:ENST00000378707:exon16:c.G1430A:p.R477Q,ENSG00000198947:ENST00000474231:exon16:c.G1430A:p.R477Q,ENSG00000198947:ENST00000541735:exon16:c.G1430A:p.R477Q,ENSG00000198947:ENST00000357033:exon59:c.G8810A:p.R2937Q,ENSG00000198947:ENST00000378677:exon59:c.G8798A:p.R2933Q Score=476;Name=lod=115 NA Xp21.2 NA NA NA NA rs1800280 0.94 0.94 0.95946 NA NA NA NA NA NA 0.93 0.95 0.84 1 0.9045 1 0.82 T 0.0 B 0.001 B 0.003 N 0.000 P . . 1.01 T -0.945 T 0.000 T 0.203 0.478 6.596 4.23 0.789 0.871 8.899 0.47831 NA 0.37 0.939209 0.987738 NA 0.732 NA 7.4896244 911 19 52941540 52941540 G A exonic ZNF534 NA nonsynonymous SNV ZNF534:NM_001143938:exon4:c.G827A:p.G276E,ZNF534:NM_001143939:exon4:c.G866A:p.G289E exonic ENSG00000198633 NA nonsynonymous SNV ENSG00000198633:ENST00000332323:exon4:c.G866A:p.G289E,ENSG00000198633:ENST00000433050:exon4:c.G827A:p.G276E Score=289;Name=lod=20 NA 19q13.41 NA NA NA NA rs1366257 0.85 0.85 0.835 0.828075 0.9583 0.6587 0.9035 0.8245 0.82 0.97 0.67 0.92 0.83 0.916 0.97 0.05 D 0.382 B 0.035 B . . 0.000 P 2.495 M 2.01 T -1.024 T 0.000 T 0.028 0.594 7.206 0.706 -0.221 0.523 8.303 0.594421 NA 0.06 0.96971 0.844069 NA 0.877 NA 7.4893234 911 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 911 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=CTCF,FOXA1_(SC-101058),FOSL2,FOXA1_(C-20),Pol2,ELF1_(SC-631),HNF4A,HEY1,KAP1,ETS1,GABP,Pol2-4H8,TAF1,NFKB,SREBP1,Mxi1_(bHLH),PAX5-C20,Sin3Ak-20,SIX5,c-Myc,SP1,Max,FOXA2_(SC-6554),CTCFL_(SC-98982),ZNF263,c-Fos,HNF4A_(H-171),PU.1,PAX5-N19,TR4,TBP 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 911 11 48510777 48510777 G A exonic OR4A47 NA nonsynonymous SNV OR4A47:NM_001005512:exon1:c.G433A:p.V145M exonic ENSG00000237388 NA nonsynonymous SNV ENSG00000237388:ENST00000446524:exon1:c.G433A:p.V145M NA NA 11p11.2 NA NA NA NA rs7103992 0.54 0.54 0.516 0.480431 0.6451 0.4474 0.5922 0.3767 0.4059 0.64 0.49 0.62 0.37 0.5763 0.64 0.17 T 0.826 P 0.447 P 0.154 N 1.000 P 1.555 L 1.07 T -0.949 T 0.000 T 0.081 0.404 6.195 2.74 0.948 -0.261 4.961 0.404118 NA 0.16 0.623313 0.440482 NA 0.471 NA 7.4886204 911 16 1004605 1004605 A G exonic LMF1 NA synonymous SNV LMF1:NM_022773:exon2:c.T255C:p.L85L exonic ENSG00000103227 NA synonymous SNV ENSG00000103227:ENST00000262301:exon2:c.T255C:p.L85L,ENSG00000103227:ENST00000399843:exon2:c.T255C:p.L85L,ENSG00000103227:ENST00000539379:exon2:c.T234C:p.L78L,ENSG00000103227:ENST00000562226:exon2:c.T255C:p.L85L,ENSG00000103227:ENST00000562380:exon2:c.T138C:p.L46L Score=433;Name=lod=77 NA 16p13.3 Score=694;Name=V$PPARG_02 NA NA NA rs12448005 0.04 0.04 0.03 0.0373403 0.0577 0.0109 0.062 0.0166 0.0542 0.06 0.01 0.05 0.02 0.0571 0.064 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442443 NA NA 0.06356 0.027901 ID=COSM434591;OCCURENCE=3(breast),1(large_intestine) 0.029 NA 7.4883066 911 12 14018777 14018777 G C exonic GRIN2B NA synonymous SNV GRIN2B:NM_000834:exon2:c.C366G:p.P122P exonic ENSG00000150086 NA synonymous SNV ENSG00000150086:ENST00000279593:exon2:c.C366G:p.P122P Score=582;Name=lod=309 NA 12p13.1 Score=946;Name=V$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 911 9 139616742 139616742 A G exonic FAM69B NA nonsynonymous SNV FAM69B:NM_152421:exon4:c.A472G:p.S158G exonic ENSG00000165716 NA nonsynonymous SNV ENSG00000165716:ENST00000371691:exon2:c.A211G:p.S71G,ENSG00000165716:ENST00000371692:exon4:c.A472G:p.S158G Score=522;Name=lod=176 NA 9q34.3 NA NA Name=18 NA rs945384 0.88 0.88 0.851 0.827077 0.9642 0.998 0.9496 0.5272 0.8282 0.96 1 0.96 0.55 0.9227 1 0.45 T 0.0 B 0.001 B 0.011 N 0.999 P 1.74 L 0.85 T -0.997 T 0.000 T 0.051 2.904 15.68 0.846 -0.093 2.433 8.050 2.903816 2.903816 0.02 0.958372 0.621026 NA 0.826 NA 7.4880614 911 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 911 11 125647286 125647286 C T exonic PATE2 NA synonymous SNV PATE2:NM_212555:exon4:c.G333A:p.E111E exonic ENSG00000196844 NA synonymous SNV ENSG00000196844:ENST00000436890:exon3:c.G204A:p.E68E,ENSG00000196844:ENST00000358524:exon4:c.G333A:p.E111E NA NA 11q24.2 NA Name=c-Fos,GATA-2,c-Jun Name=54 NA rs76476146 0.05 0.05 0.05 0.0597045 0.0636 0.002 0.0288 0.0991 0.0838 0.06 NA 0.03 0.09 0.0568 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 0.02012 NA NA 0.0592 0.092004 NA 0.058 NA 7.4870666 911 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 911 5 102433409 102433409 G A exonic GIN1 NA nonsynonymous SNV GIN1:NM_017676:exon5:c.C716T:p.T239M exonic ENSG00000145723 NA nonsynonymous SNV ENSG00000145723:ENST00000399004:exon5:c.C716T:p.T239M NA NA 5q21.1 NA NA NA NA rs34813 0.29 0.29 0.281 0.23762 0.2813 0.4494 0.2205 0.1271 0.136 0.3 0.44 0.25 0.13 0.2648 0.44 0.05 D 0.431 B 0.081 B 0.876 N 1.000 P 0.695 N 1.55 T -0.928 T 0.000 T 0.039 -0.883 0.473 1.24 0.327 0.561 2.504 -0.883355 NA 0.12 0.300558 0.143992 ID=COSM149894;OCCURENCE=1(stomach) 0.29 NA 7.4866754 911 5 147024476 147024476 C A exonic JAKMIP2 NA synonymous SNV JAKMIP2:NM_001270934:exon6:c.G1020T:p.L340L,JAKMIP2:NM_001270941:exon6:c.G1020T:p.L340L,JAKMIP2:NM_014790:exon6:c.G1020T:p.L340L exonic ENSG00000176049 NA synonymous SNV ENSG00000176049:ENST00000333010:exon5:c.G894T:p.L298L,ENSG00000176049:ENST00000265272:exon6:c.G1020T:p.L340L,ENSG00000176049:ENST00000507386:exon6:c.G1020T:p.L340L Score=545;Name=lod=219 NA 5q32 Score=860;Name=V$TAL1ALPHAE47_01 NA NA NA rs2116766 0.24 0.24 0.237 NA NA NA NA NA NA 0.05 0.34 0.17 0.48 0.1356 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.166082 NA NA 0.044535 0.410123 NA 0.312 NA 7.4865316 911 17 79632363 79632363 C T exonic OXLD1 NA synonymous SNV OXLD1:NM_001039842:exon2:c.G312A:p.A104A exonic ENSG00000204237 NA synonymous SNV ENSG00000204237:ENST00000374741:exon2:c.G312A:p.A104A NA NA 17q25.3 NA Name=Pol2,HMGN3,Egr-1 Name=2 NA rs1128812 0.13 0.13 0.147 0.126198 0.0596 0.2183 0.0519 0.1831 0.0757 0.06 0.21 0.05 0.2 0.071 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.891943 NA NA 0.049535 0.144349 NA 0.138 NA 7.4865316 911 19 52660279 52660279 C T exonic ZNF836 NA nonsynonymous SNV ZNF836:NM_001102657:exon5:c.G657A:p.M219I exonic ENSG00000196267 NA nonsynonymous SNV ENSG00000196267:ENST00000322146:exon5:c.G657A:p.M219I,ENSG00000196267:ENST00000597252:exon5:c.G657A:p.M219I NA NA 19q13.41 NA NA NA NA rs1366245 0.44 0.44 0.405 0.477436 0.2475 0.5714 0.366 0.5862 0.5491 0.26 0.57 0.36 0.61 0.3469 0.61 0.2 T 0.0 B 0.0 B . . 1.000 P -0.22 N 2.52 T -1.002 T 0.000 T 0.008 -0.103 3.497 1.49 -0.119 -1.870 2.279 -0.102708 NA 0.13 0.252734 0.518546 NA 0.348 NA 7.4861994 911 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$SOX5_01 NA Name=2 NA rs10885500 0.28 0.28 0.237 0.233227 0.4175 0.1379 0.4625 0.0234 0.2628 0.46 0.16 0.45 0.02 0.3584 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671425 NA NA 0.404723 0.086512 NA 0.116 NA 7.4860436 911 13 99948097 99948097 A G exonic GPR183 NA synonymous SNV GPR183:NM_004951:exon2:c.T303C:p.D101D exonic ENSG00000169508 NA synonymous SNV ENSG00000169508:ENST00000376414:exon2:c.T303C:p.D101D NA NA 13q32.3 NA Name=Pol2-4H8 Name=2 NA rs2230343 0.08 0.08 0.075 0.072484 0.0527 0.123 0.0461 0.0885 0.0378 0.05 0.14 0.05 0.08 0.0598 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326732 NA NA 0.068372 0.087381 NA 0.116 NA 7.4857946 911 2 98844674 98844674 C G exonic VWA3B NA nonsynonymous SNV VWA3B:NM_144992:exon15:c.C2029G:p.L677V exonic ENSG00000168658 NA nonsynonymous SNV ENSG00000168658:ENST00000477737:exon15:c.C2029G:p.L677V NA NA 2q11.2 NA NA NA NA rs7601049 0.64 0.64 0.668 0.689097 0.6034 0.7986 0.5331 0.6346 0.8487 0.59 0.77 0.55 0.64 0.632 0.77 0.85 T 0.319 B 0.041 B 0.901 N 0.998 P 0.77 N 3.4 T -0.975 T 0.000 T 0.125 1.029 9.203 -5.07 -0.468 -1.794 3.045 1.029089 NA 0.69 0.612579 0.63812 NA 0.565 NA 7.4853544 911 8 130864456 130864456 A G exonic FAM49B NA synonymous SNV FAM49B:NM_016623:exon8:c.T585C:p.T195T,FAM49B:NM_001256763:exon9:c.T585C:p.T195T exonic ENSG00000153310 NA synonymous SNV ENSG00000153310:ENST00000522250:exon6:c.T147C:p.T49T,ENSG00000153310:ENST00000522941:exon7:c.T147C:p.T49T,ENSG00000153310:ENST00000519824:exon8:c.T585C:p.T195T,ENSG00000153310:ENST00000517654:exon9:c.T585C:p.T195T,ENSG00000153310:ENST00000519540:exon9:c.T585C:p.T195T,ENSG00000153310:ENST00000519110:exon10:c.T585C:p.T195T,ENSG00000153310:ENST00000523509:exon10:c.T585C:p.T195T,ENSG00000153310:ENST00000401979:exon11:c.T585C:p.T195T,ENSG00000153310:ENST00000522746:exon11:c.T585C:p.T195T Score=563;Name=lod=259 NA 8q24.21 Score=845;Name=V$CREBP1_Q2 NA NA NA rs1051893 0.03 0.03 0.031 0.0239617 0.0765 NA 0.0187 0.0083 0.0194 0.08 NA 0.02 0.01 0.044 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 1.412675 1.412675 NA 0.060814 0.017249 NA 0.036 NA 7.4853526 912 1 44083519 44083519 G A exonic PTPRF NA synonymous SNV PTPRF:NM_130440:exon24:c.G4281A:p.R1427R,PTPRF:NM_002840:exon25:c.G4308A:p.R1436R exonic ENSG00000142949 NA synonymous SNV ENSG00000142949:ENST00000372407:exon13:c.G1524A:p.R508R,ENSG00000142949:ENST00000422171:exon16:c.G2385A:p.R795R,ENSG00000142949:ENST00000372413:exon22:c.G4281A:p.R1427R,ENSG00000142949:ENST00000372414:exon23:c.G4308A:p.R1436R,ENSG00000142949:ENST00000438120:exon24:c.G4281A:p.R1427R,ENSG00000142949:ENST00000359947:exon25:c.G4308A:p.R1436R Score=645;Name=lod=560 NA 1p34.2 NA NA NA NA rs641351 0.77 0.77 0.773 0.73722 0.7157 0.7649 0.5764 0.9455 0.5634 0.72 0.74 0.66 0.93 0.7185 0.93 . . . . . . . . 0.000 P . . . . -1.040 T 0.000 T . 1.261 10.11 2.32 0.384 1.439 9.110 1.260861 1.260861 NA 0.747791 0.916931 NA 0.812 NA 7.4846756 912 19 6458240 6458240 G C exonic SLC25A23 NA synonymous SNV SLC25A23:NM_024103:exon2:c.C252G:p.L84L exonic ENSG00000125648 NA synonymous SNV ENSG00000125648:ENST00000264088:exon2:c.C252G:p.L84L,ENSG00000125648:ENST00000301454:exon2:c.C252G:p.L84L,ENSG00000125648:ENST00000334510:exon2:c.C252G:p.L84L Score=536;Name=lod=202 NA 19p13.3 NA Name=Pol2,E2F6_(H-50),EBF1_(C-8) NA NA rs2289784 0.04 0.04 0.041 0.0463259 0.0547 0.0456 0.0259 0.0121 0.0992 0.06 0.04 0.03 0.02 0.0624 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 1.762369 1.762369 NA 0.065116 0.026555 ID=COSM440583;OCCURENCE=1(breast) 0.08 NA 7.4844506 912 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 912 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 912 16 81253917 81253917 A G exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon1:c.T59C:p.V20A exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000337114:exon1:c.T59C:p.V20A,ENSG00000269323:ENST00000599697:exon1:c.T59C:p.V20A NA NA 16q23.2 NA NA NA NA rs9924530 0.57 0.57 0.576 0.535144 0.6501 0.4405 0.562 0.6014 0.4059 0.65 0.41 0.62 0.61 0.5683 0.65 1 T 0.0 B 0.0 B 0.049 N 1.000 P . . 2.36 T -0.936 T 0.000 T 0.154 -1.453 0.019 3.22 0.426 1.062 3.362 -1.453081 NA 0.03 0.631435 0.64524 NA 0.572 NA 7.4834984 912 2 175436940 175436940 G A exonic WIPF1 NA nonsynonymous SNV WIPF1:NM_001077269:exon5:c.C593T:p.P198L,WIPF1:NM_003387:exon5:c.C593T:p.P198L exonic ENSG00000115935 NA nonsynonymous SNV ENSG00000115935:ENST00000272746:exon5:c.C593T:p.P198L,ENSG00000115935:ENST00000359761:exon5:c.C593T:p.P198L,ENSG00000115935:ENST00000392547:exon5:c.C593T:p.P198L,ENSG00000115935:ENST00000409415:exon5:c.C593T:p.P198L,ENSG00000115935:ENST00000409891:exon5:c.C593T:p.P198L,ENSG00000115935:ENST00000392546:exon6:c.C593T:p.P198L Score=403;Name=lod=58 NA 2q31.1 NA NA NA NA rs4972450 0.95 0.95 0.936 0.907947 0.9503 0.9881 0.9683 0.8101 0.8712 0.96 0.99 0.97 0.87 0.9411 0.99 0.69 T 0.0 B 0.0 B 0.058 N 0.000 P -1.59 N 1.68 T -0.966 T 0.000 T 0.056 -1.18 0.083 5.02 0.765 2.506 10.491 -1.180079 NA 0.93 0.958595 0.853476 NA 0.819 NA 7.4833384 912 8 101540153 101540153 A G exonic ANKRD46 NA synonymous SNV ANKRD46:NM_001270377:exon4:c.T390C:p.S130S,ANKRD46:NM_001270378:exon4:c.T390C:p.S130S,ANKRD46:NM_001270379:exon4:c.T390C:p.S130S,ANKRD46:NM_198401:exon5:c.T390C:p.S130S exonic ENSG00000186106 NA synonymous SNV ENSG00000186106:ENST00000358990:exon3:c.T390C:p.S130S,ENSG00000186106:ENST00000335659:exon4:c.T390C:p.S130S,ENSG00000186106:ENST00000520311:exon4:c.T390C:p.S130S,ENSG00000186106:ENST00000520552:exon4:c.T390C:p.S130S,ENSG00000186106:ENST00000519597:exon5:c.T390C:p.S130S Score=580;Name=lod=303 NA 8q22.2 NA Name=IRF4_(M-17) NA NA rs11555216 0.03 0.03 0.02 0.0203674 0.0606 0.006 0.013 0.0015 0.0245 0.07 0.0017 0.01 0.01 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 1.507096 1.507096 NA 0.066279 0.014072 NA 0.007 NA 7.4831876 912 18 59483508 59483508 G T exonic RNF152 NA synonymous SNV RNF152:NM_173557:exon2:c.C189A:p.G63G exonic ENSG00000176641 NA synonymous SNV ENSG00000176641:ENST00000312828:exon2:c.C189A:p.G63G,ENSG00000176641:ENST00000591306:exon3:c.C189A:p.G63G Score=536;Name=lod=202 NA 18q21.33 Score=974;Name=V$AP2GAMMA_01 NA NA NA rs116886631 0.03 0.03 0.025 0.0223642 0.0746 NA 0.0187 0.0106 0.0102 0.08 NA 0.02 0.01 0.0467 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 0.254927 NA NA 0.062558 0.02542 NA 0.007 NA 7.4828086 912 18 59483202 59483202 G C exonic RNF152 NA synonymous SNV RNF152:NM_173557:exon2:c.C495G:p.T165T exonic ENSG00000176641 NA synonymous SNV ENSG00000176641:ENST00000312828:exon2:c.C495G:p.T165T Score=510;Name=lod=157 NA 18q21.33 Score=845;Name=V$USF_01 NA NA NA rs4538107 0.03 0.03 0.025 0.0223642 0.0746 NA 0.0187 0.0106 0.0102 0.08 NA 0.02 0.01 0.0468 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876789 NA NA 0.062674 0.025647 NA 0.007 NA 7.4825926 912 17 1542190 1542190 G A exonic SCARF1 NA nonsynonymous SNV SCARF1:NM_003693:exon8:c.C1274T:p.A425V,SCARF1:NM_145350:exon8:c.C1274T:p.A425V exonic ENSG00000074660 NA nonsynonymous SNV ENSG00000074660:ENST00000348987:exon6:c.C1016T:p.A339V,ENSG00000074660:ENST00000263071:exon8:c.C1274T:p.A425V,ENSG00000074660:ENST00000571272:exon8:c.C1274T:p.A425V NA NA 17p13.3 NA NA NA NA rs2272011 0.68 0.68 0.648 0.666733 0.6133 0.878 0.6916 0.5197 0.6851 0.61 0.89 0.68 0.55 0.6402 0.89 0.25 T 0.1 B 0.019 B 0.177 N 1.000 P 1.7 L 1.07 T -1.034 T 0.000 T 0.129 1.86 12.18 -3.51 -1.023 -0.070 8.882 1.859897 1.859897 0.34 0.597674 0.534952 ID=COSM436062;OCCURENCE=1(breast),1(large_intestine) 0.42 NA 7.4821594 912 4 110790911 110790911 A T exonic LRIT3 NA nonsynonymous SNV LRIT3:NM_198506:exon4:c.A1006T:p.M336L exonic ENSG00000183423 NA nonsynonymous SNV ENSG00000183423:ENST00000379920:exon3:c.A871T:p.M291L,ENSG00000183423:ENST00000409621:exon3:c.A457T:p.M153L,ENSG00000183423:ENST00000327908:exon4:c.A457T:p.M153L,ENSG00000183423:ENST00000594814:exon4:c.A1006T:p.M336L NA NA 4q25 NA NA NA NA rs764205 0.51 0.51 0.529 0.469649 0.6392 0.4901 0.3963 0.3911 0.4325 0.63 0.49 0.45 0.38 0.5669 0.65 0.3 T 0.375 B 0.097 B 0.516 N 1.000 P 0.945 L -0.2 T -0.918 T 0.000 T 0.157 2.145 13.13 3.12 0.404 2.364 8.129 2.144734 2.144734 0.3 0.646628 0.433046 ID=COSM1131303,COSM1131304;OCCURENCE=1(prostate) 0.391 NA 7.4806054 912 15 40397936 40397936 G T intronic BMF NA NA NA intronic ENSG00000104081 NA NA NA Score=407;Name=lod=60 NA 15q15.1 Score=989;Name=V$NFKAPPAB_01 Name=TBP,ZNF263,Pol2,Pol2-4H8,NFKB,BCL3 Name=9 NA rs539846 0.54 0.54 0.482 0.526558 0.5199 0.8026 0.647 0.2088 0.593 0.5 0.81 0.62 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 1.154627 NA NA NA NA NA 0.536 NA 7.4801 912 16 30999142 30999142 A G exonic HSD3B7 NA nonsynonymous SNV HSD3B7:NM_025193:exon7:c.A748G:p.T250A exonic ENSG00000099377 NA nonsynonymous SNV ENSG00000099377:ENST00000297679:exon7:c.A748G:p.T250A NA NA 16p11.2 NA Name=CTCF NA NA rs9938550 0.62 0.62 0.607 0.493411 0.6362 0.9048 0.5692 0.2057 0.2577 0.64 0.93 0.6 0.25 0.5754 0.93 0.64 T 0.0 B 0.001 B 0.796 N 1.000 P . . -1.81 D -0.972 T 0.000 T 0.008 -0.576 1.407 0.275 0.134 -0.060 1.683 -0.576438 NA 0.82 0.641926 0.28939 NA 0.609 NA 7.4798074 912 18 334994 334994 A G exonic COLEC12 NA nonsynonymous SNV COLEC12:NM_130386:exon6:c.T1564C:p.S522P exonic ENSG00000158270 NA nonsynonymous SNV ENSG00000158270:ENST00000400256:exon6:c.T1564C:p.S522P NA NA 18p11.32 NA NA NA NA rs2305025 0.64 0.64 0.609 0.6252 0.6103 0.7907 0.572 0.615 0.5215 0.61 0.75 0.54 0.65 0.6262 0.75 0.48 T 0.0 B 0.0 B 0.004 N 1.000 P -2.235 N -2.09 D -0.905 T 0.000 T 0.12 -1.404 0.023 2.81 0.041 0.108 7.425 -1.404266 NA NA 0.617125 0.623066 ID=COSM438093;OCCURENCE=1(breast) 0.659 NA 7.4797084 912 14 21623303 21623303 G T exonic OR5AU1 NA synonymous SNV OR5AU1:NM_001004731:exon1:c.C882A:p.S294S exonic ENSG00000169327 NA synonymous SNV ENSG00000169327:ENST00000304418:exon1:c.C882A:p.S294S Score=401;Name=lod=57 NA 14q11.2 Score=882;Name=V$ATF6_01 NA NA NA rs45603634 0.07 0.07 0.061 0.0650958 0.0696 0.0446 0.072 0.0877 0.046 0.07 0.06 0.05 0.09 0.0618 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5367 NA NA 0.056047 0.080799 NA 0.051 NA 7.4792196 912 11 56756664 56756664 G A exonic OR5AK2 NA nonsynonymous SNV OR5AK2:NM_001005323:exon1:c.G276A:p.M92I exonic ENSG00000181273 NA nonsynonymous SNV ENSG00000181273:ENST00000326855:exon1:c.G276A:p.M92I NA NA 11q12.1 NA NA NA NA rs2853083 0.72 0.72 0.743 0.709465 0.6183 0.7093 0.562 0.9508 0.5818 0.62 0.74 0.59 0.94 0.6355 0.94 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.75 N 7.58 T -0.902 T 0.000 T 0.053 -2.995 0.001 -4.2 -0.841 -2.541 0.972 -2.995251 NA 1 0.600349 0.889141 NA 0.746 NA 7.4791844 912 2 159166069 159166069 T C exonic CCDC148 NA nonsynonymous SNV CCDC148:NM_001171637:exon7:c.A728G:p.K243R,CCDC148:NM_138803:exon9:c.A986G:p.K329R exonic ENSG00000153237 NA nonsynonymous SNV ENSG00000153237:ENST00000536771:exon7:c.A728G:p.K243R,ENSG00000153237:ENST00000283233:exon9:c.A986G:p.K329R,ENSG00000153237:ENST00000409187:exon10:c.A1013G:p.K338R Score=448;Name=lod=88 NA 2q24.1 NA NA NA NA rs7559772 0.95 0.95 0.963 0.955871 0.9453 0.998 0.9438 0.9266 0.9714 0.95 1 0.92 0.93 0.9556 1 1 T 0.0 B 0.003 B . . 0.000 P -2.28 N 2.15 T -0.955 T 0.000 T 0.06 -1.797 0.01 3.84 0.444 2.016 13.444 -1.797078 NA 1 0.953256 0.934862 NA 0.906 NA 7.4791774 912 4 48165757 48165757 G A exonic TEC NA synonymous SNV TEC:NM_003215:exon8:c.C699T:p.Y233Y exonic ENSG00000135605 NA synonymous SNV ENSG00000135605:ENST00000381501:exon8:c.C699T:p.Y233Y Score=583;Name=lod=313 NA 4p12 Score=947;Name=V$CREBP1_01 NA NA NA rs16861083 0.04 0.04 0.034 0.0499201 0.0497 NA 0.0403 0.0764 0.0726 0.05 NA 0.04 0.06 0.0826 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 0.761174 NA NA 0.055269 0.076097 ID=COSM447909;OCCURENCE=1(breast) 0.058 NA 7.4790976 912 10 6553071 6553071 T C exonic PRKCQ NA synonymous SNV PRKCQ:NM_001242413:exon3:c.A204G:p.R68R,PRKCQ:NM_006257:exon3:c.A204G:p.R68R exonic ENSG00000065675 NA synonymous SNV ENSG00000065675:ENST00000263125:exon3:c.A204G:p.R68R,ENSG00000065675:ENST00000397176:exon3:c.A204G:p.R68R Score=564;Name=lod=261 NA 10p15.1 Score=713;Name=V$PPARG_02 NA NA NA rs17555072 0.03 0.03 0.03 0.0241613 0.0616 NA 0.0259 0.003 0.0378 0.07 NA 0.03 0.01 0.0532 0.073 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.788178 NA NA 0.073023 0.014753 NA 0.029 NA 7.4788436 912 4 95173779 95173779 T C exonic SMARCAD1 NA nonsynonymous SNV SMARCAD1:NM_001128429:exon9:c.T902C:p.V301A,SMARCAD1:NM_001128430:exon9:c.T902C:p.V301A,SMARCAD1:NM_020159:exon9:c.T902C:p.V301A exonic ENSG00000163104 NA nonsynonymous SNV ENSG00000163104:ENST00000354268:exon9:c.T902C:p.V301A,ENSG00000163104:ENST00000359052:exon9:c.T902C:p.V301A,ENSG00000163104:ENST00000457823:exon9:c.T902C:p.V301A NA NA 4q22.3 NA NA NA NA rs7439869 0.71 0.71 0.734 0.730631 0.5656 0.7054 0.7089 0.9561 0.637 0.55 0.73 0.68 0.96 0.6931 0.96 0.92 T 0.0 B 0.0 B 0.054 N 0.969 P -1.04 N 3.85 T -1.002 T 0.000 T 0.015 -2.643 0 4.4 0.601 1.529 10.567 -2.643181 NA 1 0.59623 0.909133 ID=COSM1431833;OCCURENCE=1(large_intestine) 0.688 NA 7.4784034 912 8 79610710 79610710 A G exonic ZC2HC1A NA synonymous SNV ZC2HC1A:NM_016010:exon7:c.A666G:p.L222L exonic ENSG00000104427 NA synonymous SNV ENSG00000104427:ENST00000263849:exon7:c.A666G:p.L222L Score=547;Name=lod=223 NA 8q21.12 Score=967;Name=V$GATA6_01 NA NA NA rs1054283 0.73 0.73 0.691 0.717252 0.7157 0.8978 0.7968 0.4985 0.772 0.72 0.89 0.8 0.5 0.7381 0.89 . . . . . . . . 0.000 P . . . . -1.045 T 0.000 T . 0.432 6.349 2.0 0.096 0.371 5.456 0.432414 NA NA 0.734535 0.544939 ID=COSM1569545;OCCURENCE=1(large_intestine) 0.659 NA 7.4783316 912 3 135720851 135720851 G T exonic PPP2R3A NA nonsynonymous SNV PPP2R3A:NM_002718:exon2:c.G511T:p.A171S exonic ENSG00000073711 NA nonsynonymous SNV ENSG00000073711:ENST00000264977:exon2:c.G511T:p.A171S NA NA 3q22.3 NA NA NA NA rs6779903 0.34 0.34 0.351 0.345647 0.2823 0.1964 0.281 0.5537 0.3292 0.3 0.23 0.31 0.57 0.2979 0.57 0.72 T 0.0 B 0.0 B 0.027 N 1.000 P -1.245 N 3.47 T -1.021 T 0.000 T 0.033 -2.911 0.001 0.066 0.060 1.057 8.527 -2.910977 NA 1 0.274884 0.506355 NA 0.348 NA 7.4782494 912 11 33631423 33631423 G A exonic KIAA1549L NA synonymous SNV KIAA1549L:NM_012194:exon14:c.G4299A:p.K1433K exonic ENSG00000110427 NA synonymous SNV ENSG00000110427:ENST00000321505:exon14:c.G4299A:p.K1433K,ENSG00000110427:ENST00000389726:exon14:c.G4317A:p.K1439K NA NA 11p13 NA NA NA NA rs2076622 0.42 0.42 0.401 0.451677 0.3857 0.3839 0.3818 0.5605 0.4918 0.4 0.37 0.41 0.54 0.4149 0.54 . . . . . . . . 0.002 P . . . . -1.053 T 0.000 T . -1.235 0.057 -6.56 -1.233 -0.097 13.684 -1.234862 NA NA 0.388203 0.526684 NA 0.355 NA 7.4778636 912 4 69964337 69964337 A T exonic UGT2B7 NA synonymous SNV UGT2B7:NM_001074:exon2:c.A801T:p.P267P exonic ENSG00000171234 NA synonymous SNV ENSG00000171234:ENST00000305231:exon2:c.A801T:p.P267P,ENSG00000171234:ENST00000508661:exon2:c.A801T:p.P267P,ENSG00000171234:ENST00000502942:exon3:c.A54T:p.P18P Score=461;Name=lod=100 NA 4q13.2 NA Name=CEBPB,FOXA2_(SC-6554),TCF4,SP1,STAT3,FOXA1_(C-20),FOXA1_(SC-101058),HDAC2_(SC-6296),p300 Name=12 NA rs7438284 0.53 0.53 0.044 0.665136 0.5149 0.7252 0.6801 0.7731 0.6012 0.41 0.62 0.58 0.59 0.5597 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.065016 NA NA 0.114651 0.260554 ID=COSM1131074;OCCURENCE=1(prostate) NA NA 7.4774156 912 20 5953833 5953833 A G exonic MCM8 NA synonymous SNV MCM8:NM_032485:exon12:c.A1386G:p.Q462Q,MCM8:NM_182802:exon12:c.A1338G:p.Q446Q exonic ENSG00000125885 NA synonymous SNV ENSG00000125885:ENST00000265187:exon12:c.A1338G:p.Q446Q,ENSG00000125885:ENST00000378886:exon12:c.A1506G:p.Q502Q,ENSG00000125885:ENST00000378896:exon12:c.A1386G:p.Q462Q Score=687;Name=lod=826 NA 20p12.3 NA Name=Pol2 NA NA rs16991617 0.12 0.12 0.135 0.117812 0.0616 0.2649 0.049 0.1014 0.0951 0.05 0.28 0.05 0.11 0.0752 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.910414 NA NA 0.052791 0.096232 NA 0.087 NA 7.4770756 912 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 912 10 116307504 116307504 A G exonic ABLIM1 NA synonymous SNV ABLIM1:NM_001003407:exon5:c.T525C:p.N175N,ABLIM1:NM_001003408:exon5:c.T525C:p.N175N,ABLIM1:NM_002313:exon5:c.T705C:p.N235N exonic ENSG00000099204 NA synonymous SNV ENSG00000099204:ENST00000277895:exon5:c.T705C:p.N235N,ENSG00000099204:ENST00000369252:exon5:c.T525C:p.N175N,ENSG00000099204:ENST00000369256:exon5:c.T525C:p.N175N,ENSG00000099204:ENST00000392955:exon5:c.T525C:p.N175N,ENSG00000099204:ENST00000533213:exon5:c.T525C:p.N175N Score=542;Name=lod=212 NA 10q25.3 NA Name=GATA-1 NA NA rs2247528 0.76 0.76 0.789 0.783147 0.7356 0.6706 0.745 0.9584 0.7382 0.73 0.67 0.7 0.97 0.7273 0.97 . . . . . . . . 0.000 P . . . . -1.014 T 0.000 T . 1.349 10.43 -3.56 -0.497 -0.189 8.944 1.349333 1.349333 NA 0.728488 0.915343 NA 0.746 NA 7.4752786 912 9 71841018 71841018 A G exonic TJP2 NA synonymous SNV TJP2:NM_001170415:exon7:c.A1149G:p.L383L,TJP2:NM_001170416:exon7:c.A1230G:p.L410L,TJP2:NM_001170630:exon7:c.A1137G:p.L379L,TJP2:NM_004817:exon7:c.A1137G:p.L379L,TJP2:NM_201629:exon7:c.A1137G:p.L379L,TJP2:NM_001170414:exon8:c.A1068G:p.L356L exonic ENSG00000119139 NA synonymous SNV ENSG00000119139:ENST00000265384:exon7:c.A1137G:p.L379L,ENSG00000119139:ENST00000348208:exon7:c.A1137G:p.L379L,ENSG00000119139:ENST00000377245:exon7:c.A1137G:p.L379L,ENSG00000119139:ENST00000535702:exon7:c.A1149G:p.L383L,ENSG00000119139:ENST00000539225:exon7:c.A1230G:p.L410L,ENSG00000119139:ENST00000453658:exon8:c.A1068G:p.L356L NA NA 9q21.11 Score=755;Name=V$SEF1_C NA NA NA rs17062695 0.09 0.09 0.084 0.111422 0.0616 0.1151 0.1066 0.1596 0.0971 0.06 0.09 0.13 0.11 0.0692 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.326934 1.326934 NA 0.060698 0.141398 NA 0.101 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037066.1;CLNDSDB=.;CLNDSDBID=. 7.4751686 913 10 97023630 97023630 T C exonic PDLIM1 NA nonsynonymous SNV PDLIM1:NM_020992:exon4:c.A524G:p.N175S exonic ENSG00000107438 NA nonsynonymous SNV ENSG00000107438:ENST00000329399:exon4:c.A524G:p.N175S NA NA 10q24.1 NA NA NA NA rs2296961 0.19 0.19 0.19 0.189497 0.3072 0.0278 0.2666 0.1626 0.2168 0.3 0.02 0.26 0.16 0.257 0.3 0.47 T 0.001 B 0.001 B 0.001 N 1.000 P -0.115 N 2.02 T -0.907 T 0.000 T 0.034 -0.44 1.955 3.31 0.553 0.818 7.455 -0.440236 NA 0.93 0.294186 0.195415 NA 0.181 NA 7.4749474 913 15 75093389 75093389 C T exonic CSK NA synonymous SNV CSK:NM_004383:exon9:c.C759T:p.G253G,CSK:NM_001127190:exon10:c.C759T:p.G253G exonic ENSG00000103653 NA synonymous SNV ENSG00000103653:ENST00000220003:exon9:c.C759T:p.G253G,ENSG00000103653:ENST00000309470:exon9:c.C759T:p.G253G,ENSG00000103653:ENST00000439220:exon10:c.C759T:p.G253G,ENSG00000103653:ENST00000567571:exon11:c.C759T:p.G253G NA NA 15q24.1 Score=801;Name=V$COMP1_01 NA Name=5 NA rs2229730 0.09 0.09 0.085 0.154553 0.0487 0.1706 0.1095 0.0492 0.4213 0.05 0.17 0.1 0.05 0.1049 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.285826 1.285826 NA 0.038175 0.045517 NA 0.043 NA 7.4748916 913 7 135292098 135292098 G A exonic NUP205 NA synonymous SNV NUP205:NM_015135:exon22:c.G3174A:p.Q1058Q exonic ENSG00000155561 NA synonymous SNV ENSG00000155561:ENST00000285968:exon22:c.G3174A:p.Q1058Q Score=543;Name=lod=214 NA 7q33 Score=996;Name=V$AP4_Q6 NA NA NA rs61734151 0.08 0.08 0.087 0.109625 0.0586 0.0685 0.062 0.1467 0.1881 0.05 0.08 0.07 0.15 0.0749 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.07477 NA NA 0.058605 0.133 NA 0.116 NA 7.4745616 913 5 150901300 150901300 G A exonic FAT2 NA synonymous SNV FAT2:NM_001447:exon18:c.C10854T:p.Y3618Y exonic ENSG00000086570 NA synonymous SNV ENSG00000086570:ENST00000261800:exon18:c.C10854T:p.Y3618Y Score=423;Name=lod=70 NA 5q33.1 Score=782;Name=V$MYCMAX_03 NA NA NA rs3734046 0.76 0.76 0.751 0.764577 0.7147 0.9484 0.7939 0.5817 0.8528 0.72 0.95 0.78 0.58 0.7617 0.95 . . . . . . . . 0.000 P . . . . -1.052 T 0.000 T . 0.221 5.19 -10.2 -1.719 -0.694 15.798 0.22069 NA NA 0.71593 0.61212 NA 0.696 NA 7.4743366 913 13 32906729 32906729 A C exonic BRCA2 NA nonsynonymous SNV BRCA2:NM_000059:exon10:c.A1114C:p.N372H exonic ENSG00000139618 NA nonsynonymous SNV ENSG00000139618:ENST00000380152:exon10:c.A1114C:p.N372H,ENSG00000139618:ENST00000530893:exon10:c.A745C:p.N249H,ENSG00000139618:ENST00000544455:exon10:c.A1114C:p.N372H NA NA 13q13.1 NA NA NA NA rs144848 0.24 0.24 0.229 0.249401 0.2952 0.2847 0.2997 0.084 0.3538 0.29 0.26 0.31 0.1 0.2779 0.31 0.11 T . . . . 0.539 N 1.000 P . . 5.79 T -0.951 T 0.000 T 0.193 0.41 6.228 0.396 -0.147 0.757 5.256 0.410176 NA 0.08 0.285898 0.128928 ID=COSM147663;OCCURENCE=1(stomach) 0.181 CLINSIG=other|non-pathogenic|untested|non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_2|not_provided|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=mult|single|not|single;CLNACC=RCV000009916.3|RCV000034427.1|RCV000120303.1|RCV000130720.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.|.|MedGen;CLNDSDBID=NBK1247:C2675520:612555:ORPHA145|.|.|C0027672 7.4743354 913 22 38130472 38130472 T C exonic TRIOBP NA nonsynonymous SNV TRIOBP:NM_001039141:exon9:c.T4129C:p.W1377R exonic ENSG00000100106 NA nonsynonymous SNV ENSG00000100106:ENST00000406386:exon9:c.T4129C:p.W1377R NA NA 22q13.1 NA Name=TCF4 NA NA rs8140958 0.97 0.97 0.972 0.982628 0.9414 1 0.9683 0.9985 0.9959 0.94 1 0.96 1 0.9653 1 0.89 T 0.0 B 0.0 B . . 1.000 P -0.695 N 2.29 T -1.005 T 0.000 T 0.044 -1.015 0.239 0.848 -0.201 1.021 1.837 -1.015298 NA 0.84 0.953455 0.98886 NA 0.978 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036822.1;CLNDSDB=.;CLNDSDBID=. 7.4731784 913 17 35902225 35902225 C G exonic SYNRG NA synonymous SNV SYNRG:NM_001163547:exon13:c.G2433C:p.P811P,SYNRG:NM_001163544:exon14:c.G2817C:p.P939P,SYNRG:NM_001163545:exon14:c.G2814C:p.P938P,SYNRG:NM_001163546:exon14:c.G2682C:p.P894P,SYNRG:NM_080550:exon14:c.G2817C:p.P939P,SYNRG:NM_198882:exon14:c.G2817C:p.P939P,SYNRG:NM_007247:exon15:c.G3051C:p.P1017P exonic ENSG00000006114 NA synonymous SNV ENSG00000006114:ENST00000591427:exon1:c.G264C:p.P88P,ENSG00000006114:ENST00000591288:exon13:c.G2433C:p.P811P,ENSG00000006114:ENST00000345615:exon14:c.G2817C:p.P939P,ENSG00000006114:ENST00000394378:exon14:c.G2817C:p.P939P,ENSG00000006114:ENST00000502449:exon14:c.G2682C:p.P894P,ENSG00000006114:ENST00000585472:exon14:c.G2814C:p.P938P,ENSG00000006114:ENST00000339208:exon15:c.G3051C:p.P1017P,ENSG00000006114:ENST00000346661:exon15:c.G3051C:p.P1017P Score=352;Name=lod=36 NA 17q12 Score=808;Name=V$AHR_01 Name=MafK_(SC-477),MafK_(ab50322) NA NA rs3110623 0.51 0.51 0.552 0.539936 0.4036 0.6548 0.3775 0.6157 0.5746 0.4 0.66 0.39 0.61 0.4297 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.863575 NA NA 0.360465 0.549932 NA 0.435 NA 7.4729016 913 4 187120211 187120211 C A exonic CYP4V2 NA nonsynonymous SNV CYP4V2:NM_207352:exon6:c.C775A:p.Q259K exonic ENSG00000145476 NA nonsynonymous SNV ENSG00000145476:ENST00000378802:exon6:c.C775A:p.Q259K Score=374;Name=lod=44 NA 4q35.2 NA NA NA NA rs13146272 0.55 0.55 0.538 0.559305 0.6451 0.4127 0.4741 0.6014 0.6258 0.66 0.37 0.51 0.6 0.5852 0.66 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.64 N -0.18 T -0.942 T 0.000 T 0.019 -0.486 1.765 0.977 -0.202 2.241 5.992 -0.485771 NA 1 0.630465 0.623922 NA 0.543 NA 7.4725684 913 2 113513825 113513825 T C exonic CKAP2L NA nonsynonymous SNV CKAP2L:NM_152515:exon4:c.A1123G:p.I375V exonic ENSG00000169607 NA nonsynonymous SNV ENSG00000169607:ENST00000302450:exon4:c.A1123G:p.I375V,ENSG00000169607:ENST00000541405:exon4:c.A628G:p.I210V NA NA 2q13 NA NA NA NA rs6731822 0.97 0.97 0.962 0.963858 0.9513 1 0.9582 0.9334 0.9847 0.96 1 0.96 0.94 0.9622 1 0.53 T 0.002 B 0.002 B 0.107 N 1.000 P 1.79 L 3.31 T -0.957 T 0.000 T 0.016 -0.62 1.244 -7.88 -1.707 -2.367 9.727 -0.620422 NA 0.66 0.947326 0.926237 NA 0.993 NA 7.4725074 913 1 20977000 20977000 A C exonic PINK1 NA nonsynonymous SNV PINK1:NM_032409:exon8:c.A1562C:p.N521T exonic ENSG00000158828 NA nonsynonymous SNV ENSG00000158828:ENST00000321556:exon8:c.A1562C:p.N521T NA NA 1p36.12 Score=808;Name=V$IRF7_01 NA NA NA rs1043424 0.28 0.28 0.282 0.300519 0.2922 0.3571 0.1931 0.2458 0.4008 0.29 0.36 0.22 0.22 0.2974 0.36 0.24 T 0.022 B 0.006 B 0.169 N 1.000 P 1.1 L -0.81 T -1.033 T 0.000 T 0.078 2.327 13.74 1.55 0.382 0.601 7.400 2.327369 2.327369 0.02 0.271279 0.26759 NA 0.188 NA 7.4724544 913 5 176936590 176936590 T C exonic DOK3 NA synonymous SNV DOK3:NM_024872:exon2:c.A120G:p.S40S exonic ENSG00000146094 NA synonymous SNV ENSG00000146094:ENST00000357198:exon2:c.A120G:p.S40S NA NA 5q35.3 NA Name=ELF1_(SC-631),E2F6_(H-50),Pol2,PU.1,ZBTB7A_(SC-34508) Name=28 NA rs2112181 0.14 0.14 0.138 0.146565 0.0517 0.1677 0.098 0.2466 0.1217 0.06 0.2 0.08 0.24 0.0885 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.580455 NA NA 0.05407 0.179982 NA 0.094 NA 7.4723966 913 15 40915045 40915045 T G exonic CASC5 NA synonymous SNV CASC5:NM_144508:exon10:c.T2583G:p.T861T,CASC5:NM_170589:exon11:c.T2661G:p.T887T exonic ENSG00000137812 NA synonymous SNV ENSG00000137812:ENST00000399668:exon10:c.T2583G:p.T861T,ENSG00000137812:ENST00000346991:exon11:c.T2661G:p.T887T Score=304;Name=lod=23 NA 15q15.1 Score=848;Name=V$CDP_02 NA NA NA rs8041534 0.35 0.35 0.337 0.351238 0.3976 0.254 0.3285 0.348 0.4243 0.42 0.25 0.34 0.35 0.3923 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105608 NA NA 0.404446 0.368075 NA 0.384 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116565.1;CLNDSDB=.;CLNDSDBID=. 7.4723206 913 22 50582630 50582630 G A exonic MOV10L1 NA synonymous SNV MOV10L1:NM_001164104:exon18:c.G2463A:p.P821P,MOV10L1:NM_001164105:exon18:c.G2403A:p.P801P,MOV10L1:NM_018995:exon18:c.G2463A:p.P821P exonic ENSG00000073146 NA synonymous SNV ENSG00000073146:ENST00000262794:exon18:c.G2463A:p.P821P,ENSG00000073146:ENST00000395858:exon18:c.G2463A:p.P821P,ENSG00000073146:ENST00000540615:exon18:c.G2403A:p.P801P,ENSG00000073146:ENST00000545383:exon19:c.G2463A:p.P821P NA NA 22q13.33 Score=872;Name=V$ZID_01 Name=E2F6_(H-50),CTCF,CTCF_(SC-5916),CTCFL_(SC-98982) NA NA rs11704548 0.03 0.03 0.035 0.0271565 0.0726 NA 0.0447 0.0038 0.0276 0.07 NA 0.05 0.002 0.0497 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 -0.966449 NA NA 0.072558 0.012483 NA 0.022 NA 7.4718086 913 2 204062061 204062061 A G exonic NBEAL1 NA nonsynonymous SNV NBEAL1:NM_001114132:exon47:c.A6988G:p.I2330V exonic ENSG00000144426 NA nonsynonymous SNV ENSG00000144426:ENST00000414576:exon10:c.A1033G:p.I345V,ENSG00000144426:ENST00000449802:exon47:c.A6988G:p.I2330V Score=635;Name=lod=507 NA 2q33.2 NA NA NA NA rs4675323 0.86 0.86 0.841 0.860823 0.9612 0.9246 0.9366 0.6331 0.9458 0.97 0.92 0.93 0.59 0.9359 0.97 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.695 N 0.82 T -0.949 T 0.000 T 0.028 0.157 4.845 3.88 0.339 4.877 10.134 0.15714 NA 1 0.964742 0.736066 NA 0.848 NA 7.4714914 913 13 25009099 25009099 A C exonic PARP4 NA nonsynonymous SNV PARP4:NM_006437:exon31:c.T4180G:p.S1394A exonic ENSG00000102699 NA nonsynonymous SNV ENSG00000102699:ENST00000381989:exon31:c.T4180G:p.S1394A NA NA 13q12.12 NA NA NA NA rs9511259 0.95 0.95 0.939 0.948083 0.9513 0.994 0.9654 0.8896 0.9642 0.96 0.99 0.97 0.87 0.9559 0.99 1 T 0.0 B 0.0 B 0.037 N 1.000 P -0.345 N 4.68 T -0.957 T 0.000 T 0.055 -1.917 0.008 -4.03 -1.579 -3.575 0.088 -1.916674 NA 1 0.955233 0.891058 NA 0.906 NA 7.4709004 913 13 25008588 25008588 A G exonic PARP4 NA nonsynonymous SNV PARP4:NM_006437:exon31:c.T4691C:p.I1564T exonic ENSG00000102699 NA nonsynonymous SNV ENSG00000102699:ENST00000381989:exon31:c.T4691C:p.I1564T NA NA 13q12.12 NA NA NA NA rs1372085 0.95 0.95 0.938 0.948083 0.9513 0.994 0.9654 0.8896 0.9642 0.96 0.99 0.97 0.86 0.956 0.99 0.63 T 0.0 B 0.0 B 0.270 N 1.000 P -1.1 N 4.73 T -1.041 T 0.000 T 0.022 -1.31 0.035 -3.16 -1.036 -1.612 1.328 -1.310465 NA 1 0.955233 0.89015 NA 0.891 NA 7.4708004 913 19 9075217 9075217 T A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A12229T:p.T4077S exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A12229T:p.T4077S NA NA 19p13.2 NA NA NA NA rs2547068 0.25 0.25 0.224 0.242812 0.3121 0.249 0.2104 0.1808 0.272 0.31 0.21 0.24 0.2 0.2619 0.31 0 D 0.376 B 0.148 B . . . . 1.67 L 4.32 T -0.908 T 0.000 T 0.055 0.426 6.313 -0.161 -0.113 -0.833 1.850 0.425926 NA 0.11 0.288642 0.196592 NA 0.254 NA 7.4706914 913 19 9077803 9077803 T C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A9643G:p.S3215G exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A9643G:p.S3215G NA NA 19p13.2 NA NA NA NA rs2591597 0.25 0.25 0.246 0.248403 0.3121 0.249 0.2118 0.2005 0.273 0.31 0.22 0.24 0.22 0.2629 0.31 0 D 0.001 B 0.004 B . . . . 0 N 4.23 T -0.914 T 0.000 T 0.017 -0.273 2.692 0.813 -0.165 -0.572 5.633 -0.27298 NA 0.19 0.288043 0.20932 NA 0.261 NA 7.4702904 913 14 20928359 20928359 C A exonic TMEM55B NA synonymous SNV TMEM55B:NM_001100814:exon3:c.G453T:p.R151R,TMEM55B:NM_144568:exon3:c.G432T:p.R144R exonic ENSG00000165782 NA synonymous SNV ENSG00000165782:ENST00000250489:exon3:c.G432T:p.R144R,ENSG00000165782:ENST00000398020:exon3:c.G453T:p.R151R Score=429;Name=lod=74 NA 14q11.2 Score=813;Name=V$HNF4_01 NA NA NA rs35567022 0.14 0.14 0.115 0.135982 0.0547 0.4187 0.0965 0.0416 0.0838 0.06 0.39 0.05 0.04 0.0842 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.863592 NA NA 0.057674 0.056968 NA 0.036 NA 7.4700926 913 19 9076950 9076950 C A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.G10496T:p.R3499M exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G10496T:p.R3499M NA NA 19p13.2 NA NA NA NA rs2547076 0.25 0.25 0.244 0.248203 0.3121 0.249 0.2118 0.2005 0.272 0.31 0.21 0.24 0.22 0.2628 0.31 0 D 0.0 B 0.0 B . . . . 0 N 4.09 T -0.901 T 0.000 T 0.079 -0.367 2.27 0.457 -0.277 -0.617 2.361 -0.367308 NA 0.23 0.288357 0.212776 NA 0.254 NA 7.4700764 913 15 86123833 86123833 T C exonic AKAP13 NA nonsynonymous SNV AKAP13:NM_006738:exon7:c.T2534C:p.V845A,AKAP13:NM_007200:exon7:c.T2534C:p.V845A exonic ENSG00000170776 NA nonsynonymous SNV ENSG00000170776:ENST00000361243:exon7:c.T2534C:p.V845A,ENSG00000170776:ENST00000394518:exon7:c.T2534C:p.V845A,ENSG00000170776:ENST00000559362:exon7:c.T2534C:p.V845A NA NA 15q25.3 NA Name=Pol2 NA NA rs4075256 0.58 0.58 0.603 0.582069 0.6133 0.5784 0.6167 0.5492 0.5736 0.61 0.58 0.61 0.53 0.6072 0.64 0.8 T 0.0 B 0.001 B . . 1.000 P 0 N 2.76 T -0.997 T 0.000 T 0.17 -0.073 3.641 0.070 -0.113 -1.248 6.569 -0.073444 NA 0 0.643057 0.592189 NA 0.536 NA 7.4697764 913 7 17879553 17879553 G A exonic SNX13 NA synonymous SNV SNX13:NM_015132:exon13:c.C1236T:p.T412T exonic ENSG00000071189 NA synonymous SNV ENSG00000071189:ENST00000409389:exon13:c.C1236T:p.T412T,ENSG00000071189:ENST00000428135:exon13:c.C1236T:p.T412T Score=722;Name=lod=1141 NA 7p21.1 Score=832;Name=V$RFX1_01 NA NA NA rs12720473 0.04 0.04 0.022 0.0213658 0.0686 NA 0.0403 0.0038 0.0051 0.07 NA 0.05 0.01 0.0524 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 0.937109 NA NA 0.076193 0.018047 NA 0.022 NA 7.4694736 913 22 29704662 29704662 C G exonic GAS2L1 NA synonymous SNV GAS2L1:NM_152237:exon2:c.C567G:p.P189P exonic ENSG00000185340 NA synonymous SNV ENSG00000185340:ENST00000471961:exon1:c.C567G:p.P189P,ENSG00000185340:ENST00000341313:exon2:c.C567G:p.P189P,ENSG00000185340:ENST00000360113:exon2:c.C567G:p.P189P,ENSG00000185340:ENST00000403764:exon2:c.C567G:p.P189P,ENSG00000185340:ENST00000406549:exon2:c.C567G:p.P189P,ENSG00000185340:ENST00000407647:exon2:c.C567G:p.P189P,ENSG00000185340:ENST00000407854:exon2:c.C567G:p.P189P NA NA 22q12.2 NA Name=Egr-1 Name=5 NA rs56037813 0.03 0.03 0.01 0.0197684 0.0706 NA 0.0274 0.0023 0.0061 0.07 NA 0.02 0.0041 0.0675 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 0.753457 NA NA 0.059487 0.011757 ID=COSM444841,COSM444840;OCCURENCE=1(breast) 0.007 NA 7.4690796 913 22 39382079 39382079 C A exonic APOBEC3B NA nonsynonymous SNV APOBEC3B:NM_001270411:exon3:c.C437A:p.T146K,APOBEC3B:NM_004900:exon3:c.C437A:p.T146K exonic ENSG00000179750 NA nonsynonymous SNV ENSG00000179750:ENST00000333467:exon3:c.C437A:p.T146K,ENSG00000179750:ENST00000335760:exon3:c.C437A:p.T146K,ENSG00000179750:ENST00000402182:exon3:c.C437A:p.T146K,ENSG00000179750:ENST00000407298:exon3:c.C437A:p.T146K NA NA 22q13.1 Score=846;Name=V$ARNT_01 NA NA NA rs5995649 0.95 0.95 0.95 0.949681 0.9592 0.9792 0.9597 0.9486 0.9039 0.96 0.98 0.93 0.95 0.9492 0.98 1 T 0.0 B 0.004 B . . 1.000 P -1.42 N -0.02 T -0.995 T 0.000 T 0.142 -2.103 0.006 -4.25 -1.743 -0.841 8.894 -2.102502 NA 1 0.956065 0.941485 NA 0.775 NA 7.4688684 913 2 87017662 87017662 G T exonic CD8A NA synonymous SNV CD8A:NM_001768:exon2:c.C192A:p.A64A,CD8A:NM_171827:exon2:c.C192A:p.A64A,CD8A:NM_001145873:exon5:c.C192A:p.A64A exonic ENSG00000153563 NA synonymous SNV ENSG00000153563:ENST00000283635:exon2:c.C192A:p.A64A,ENSG00000153563:ENST00000352580:exon2:c.C192A:p.A64A,ENSG00000153563:ENST00000409781:exon2:c.C192A:p.A64A,ENSG00000153563:ENST00000538832:exon3:c.C315A:p.A105A,ENSG00000153563:ENST00000409511:exon5:c.C192A:p.A64A,ENSG00000153563:ENST00000456996:exon5:c.C192A:p.A64A NA NA 2p11.2 NA Name=SUZ12,NRSF Name=9 NA rs2229239 0.04 0.04 0.044 0.0365415 0.0626 NA 0.0288 0.0696 0.0082 0.06 NA 0.03 0.08 0.0603 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 0.378512 NA NA 0.075285 0.078601 NA 0.022 NA 7.4684816 913 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=IRF1,YY1_(C-20),TBP,BAF155,HA-E2F1,Pol2,Pol2(phosphoS2),Pol2-4H8,GABP,HMGN3,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 913 19 34842488 34842488 T C exonic KIAA0355 NA synonymous SNV KIAA0355:NM_014686:exon13:c.T2895C:p.D965D exonic ENSG00000166398 NA synonymous SNV ENSG00000166398:ENST00000299505:exon13:c.T2895C:p.D965D Score=445;Name=lod=86 NA 19q13.11 Score=796;Name=V$XBP1_01 NA Name=26 NA rs392340 0.59 0.59 0.585 0.602636 0.3897 0.8155 0.4049 0.739 0.5583 0.4 0.82 0.44 0.74 0.4506 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 -1.037754 NA NA 0.35814 0.639809 NA 0.471 NA 7.4682266 913 2 87017575 87017575 C T exonic CD8A NA synonymous SNV CD8A:NM_001768:exon2:c.G279A:p.R93R,CD8A:NM_171827:exon2:c.G279A:p.R93R,CD8A:NM_001145873:exon5:c.G279A:p.R93R exonic ENSG00000153563 NA synonymous SNV ENSG00000153563:ENST00000283635:exon2:c.G279A:p.R93R,ENSG00000153563:ENST00000352580:exon2:c.G279A:p.R93R,ENSG00000153563:ENST00000409781:exon2:c.G279A:p.R93R,ENSG00000153563:ENST00000538832:exon3:c.G402A:p.R134R,ENSG00000153563:ENST00000409511:exon5:c.G279A:p.R93R,ENSG00000153563:ENST00000456996:exon5:c.G279A:p.R93R NA NA 2p11.2 NA Name=SUZ12 Name=9 NA rs2229240 0.04 0.04 0.037 0.0365415 0.0626 NA 0.0288 0.0696 0.0082 0.06 NA 0.03 0.08 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 0.285562 NA NA 0.076279 0.07921 NA 0.036 NA 7.4680876 913 17 79220224 79220224 G C exonic SLC38A10 NA nonsynonymous SNV SLC38A10:NM_001037984:exon16:c.C2492G:p.A831G exonic ENSG00000157637 NA nonsynonymous SNV ENSG00000157637:ENST00000540966:exon5:c.C650G:p.A217G,ENSG00000157637:ENST00000374759:exon16:c.C2492G:p.A831G NA NA 17q25.3 NA Name=Pol2 NA NA rs2725405 0.43 0.43 0.394 0.428514 0.4374 0.7004 0.4784 0.025 0.6493 0.44 0.72 0.48 0.05 0.4905 0.72 0.19 T 0.666 P 0.162 B 0.009 N 1.000 P 1.385 L 2.93 T -0.926 T 0.000 T 0.146 2.033 12.76 0.68 0.336 0.368 5.253 2.033367 2.033367 0.08 0.437653 0.088378 NA 0.348 NA 7.4677804 913 1 109377070 109377070 C A exonic AKNAD1 NA nonsynonymous SNV AKNAD1:NM_152763:exon9:c.G1745T:p.G582V exonic ENSG00000162641 NA nonsynonymous SNV ENSG00000162641:ENST00000357393:exon8:c.G866T:p.G289V,ENSG00000162641:ENST00000369994:exon8:c.G1655T:p.G552V,ENSG00000162641:ENST00000369995:exon9:c.G1745T:p.G582V,ENSG00000162641:ENST00000370001:exon9:c.G1745T:p.G582V NA NA 1p13.3 NA NA NA NA rs12060255 0.14 0.14 0.122 0.132987 0.1133 0.12 0.0951 0.2095 0.09 0.11 0.12 0.1 0.23 0.1401 0.23 0.14 T 0.61 P 0.11 B . . 1.000 P 0.895 L 3.17 T -0.958 T 0.008 T 0.064 0.831 8.353 -0.038 0.207 0.598 2.583 0.831248 NA 0.02 0.113023 0.186337 NA 0.152 NA 7.4669104 913 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 913 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 913 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 913 19 58549593 58549593 C G intronic ZSCAN1 NA NA NA exonic ENSG00000152467 NA nonsynonymous SNV ENSG00000152467:ENST00000601162:exon3:c.C389G:p.P130R,ENSG00000152467:ENST00000391700:exon4:c.C389G:p.P130R NA NA 19q13.43 NA NA Name=4 NA rs2241406 0.78 0.78 0.834 0.776158 0.9056 0.4405 0.8285 0.8949 0.7914 0.9 0.49 0.84 0.89 0.8726 0.92 . . . . . . . . 1.000 P . . 3.29 T -1.063 T 0.000 T 0.049 -0.106 3.481 -2.24 -1.785 -4.053 3.734 -0.105905 NA 0.13 0.922566 0.907177 NA 0.413 NA 7.4659007 913 12 52566047 52566047 G A exonic KRT80 NA synonymous SNV KRT80:NM_001081492:exon7:c.C1113T:p.N371N,KRT80:NM_182507:exon7:c.C1113T:p.N371N exonic ENSG00000167767 NA synonymous SNV ENSG00000167767:ENST00000313234:exon7:c.C1113T:p.N371N,ENSG00000167767:ENST00000394815:exon7:c.C1113T:p.N371N Score=646;Name=lod=561 NA 12q13.13 NA Name=SMC3_(ab9263),c-Myc,Rad21,CTCF_(SC-5916),CTCF_(C-20),Pol2,CTCF Name=101 NA rs3741736 0.35 0.35 0.316 0.331669 0.4513 0.2907 0.2968 0.2852 0.3384 0.46 0.27 0.34 0.27 0.3601 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.716257 NA NA 0.389767 0.298457 NA 0.428 NA 7.4654996 913 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 913 X 150869267 150869267 A G exonic PRRG3 NA nonsynonymous SNV PRRG3:NM_024082:exon4:c.A458G:p.N153S exonic ENSG00000130032 NA nonsynonymous SNV ENSG00000130032:ENST00000370353:exon4:c.A458G:p.N153S,ENSG00000130032:ENST00000538575:exon4:c.A458G:p.N153S NA NA Xq28 NA NA NA NA rs4323608 0.93 0.93 0.93641 NA NA NA NA NA NA 0.93 1 0.95 0.85 0.9343 1 . . 0.0 B 0.0 B 0.147 N 1.000 P 0 N -4.76 D -0.963 T 0.000 T 0.012 -2.025 0.006 2.5 0.406 -0.239 5.278 -2.025131 NA 1 0.934007 0.83103 NA 0.674 NA 7.4650264 914 1 26392824 26392824 C A exonic TRIM63 NA synonymous SNV TRIM63:NM_032588:exon2:c.G267T:p.V89V exonic ENSG00000158022 NA synonymous SNV ENSG00000158022:ENST00000374272:exon2:c.G267T:p.V89V Score=574;Name=lod=287 NA 1p36.11 NA NA Name=4 NA rs35123100 0.03 0.03 0.019 0.0183706 0.0646 NA 0.0288 0.003 0.0031 0.05 NA 0.04 0.0041 0.0529 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 1.141248 NA NA 0.084419 0.01566 NA 0.014 NA 7.4647476 914 14 64408852 64408852 G C exonic SYNE2 NA synonymous SNV SYNE2:NM_015180:exon6:c.G399C:p.L133L,SYNE2:NM_182914:exon6:c.G399C:p.L133L exonic ENSG00000054654 NA synonymous SNV ENSG00000054654:ENST00000554584:exon5:c.G399C:p.L133L,ENSG00000054654:ENST00000341472:exon6:c.G399C:p.L133L,ENSG00000054654:ENST00000344113:exon6:c.G399C:p.L133L,ENSG00000054654:ENST00000356081:exon6:c.G399C:p.L133L,ENSG00000054654:ENST00000358025:exon6:c.G399C:p.L133L Score=648;Name=lod=576 NA 14q23.2 NA NA NA NA rs33976862 0.1 0.1 0.102 0.109026 0.0467 0.0466 0.1138 0.2542 0.0378 0.05 0.06 0.12 0.21 0.084 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.664181 NA NA 0.071953 0.204408 ID=COSM147791;OCCURENCE=1(stomach) 0.123 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118536.1;CLNDSDB=.;CLNDSDBID=. 7.4640136 914 1 179414105 179414105 A C exonic AXDND1 NA nonsynonymous SNV AXDND1:NM_144696:exon16:c.A1564C:p.I522L exonic ENSG00000162779 NA nonsynonymous SNV ENSG00000162779:ENST00000434088:exon14:c.A1366C:p.I456L,ENSG00000162779:ENST00000367618:exon16:c.A1564C:p.I522L,ENSG00000162779:ENST00000457238:exon16:c.A1564C:p.I522L Score=243;Name=lod=13 NA 1q25.2 NA NA NA NA rs11577579 0.21 0.21 0.222 0.212859 0.2783 0.0526 0.2435 0.2882 0.1871 0.29 0.05 0.24 0.25 0.2849 0.31 . . 0.0 B 0.001 B 0.095 N 1.000 P 0.345 N 2.27 T -0.936 T 0.000 T 0.086 1.625 11.39 0.62 -0.068 -0.036 7.962 1.624894 1.624894 0.1 0.306816 0.280327 ID=COSM146698;OCCURENCE=1(stomach) 0.167 NA 7.4633174 914 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 914 15 86122654 86122654 T C exonic AKAP13 NA nonsynonymous SNV AKAP13:NM_006738:exon7:c.T1355C:p.M452T,AKAP13:NM_007200:exon7:c.T1355C:p.M452T exonic ENSG00000170776 NA nonsynonymous SNV ENSG00000170776:ENST00000361243:exon7:c.T1355C:p.M452T,ENSG00000170776:ENST00000394518:exon7:c.T1355C:p.M452T,ENSG00000170776:ENST00000559362:exon7:c.T1355C:p.M452T NA NA 15q25.3 NA NA NA NA rs2061821 0.59 0.59 0.592 0.583067 0.6153 0.5784 0.6182 0.5507 0.5736 0.61 0.58 0.61 0.53 0.6107 0.64 1 T 0.003 B 0.001 B . . 1.000 P 0.46 N 3.19 T -0.909 T 0.000 T 0.29 0.841 8.395 -8.74 -1.276 -0.755 14.316 0.840732 NA 0 0.644336 0.593551 NA 0.572 NA 7.4629974 914 12 82792787 82792787 C A exonic METTL25 NA nonsynonymous SNV METTL25:NM_032230:exon4:c.C745A:p.Q249K exonic ENSG00000127720 NA nonsynonymous SNV ENSG00000127720:ENST00000248306:exon4:c.C745A:p.Q249K NA NA 12q21.31 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs4296098 0.93 0.93 0.912 0.926318 0.9583 1 0.9568 0.7784 0.9959 0.96 1 0.96 0.77 0.9559 1 0.91 T 0.009 B 0.007 B 0.934 N 1.000 P 1.59 L 1.57 T -0.903 T 0.000 T 0.055 -0.626 1.225 3.5 0.719 1.281 10.675 -0.625805 NA 1 0.956259 0.821153 NA 0.87 NA 7.4628744 914 1 161163037 161163037 T C exonic ADAMTS4 NA nonsynonymous SNV ADAMTS4:NM_005099:exon7:c.A1877G:p.Q626R exonic ENSG00000158859 NA nonsynonymous SNV ENSG00000158859:ENST00000367996:exon7:c.A1877G:p.Q626R Score=549;Name=lod=227 NA 1q23.3 Score=768;Name=V$AHR_01 NA NA NA rs4233367 0.69 0.69 0.684 0.706869 0.6093 0.8859 0.7089 0.5893 0.7802 0.6 0.92 0.67 0.59 0.6623 0.92 1 T 0.0 B 0.0 B 0.040 N 0.000 P -1.815 N 3.89 T -0.962 T 0.001 T 0.033 -0.049 3.766 1.94 0.011 0.127 8.531 -0.048557 NA 1 0.600233 0.607808 ID=COSM1472886,COSM424371;OCCURENCE=1(breast) 0.601 NA 7.4615004 914 16 81124275 81124275 G A exonic GCSH NA synonymous SNV GCSH:NM_004483:exon2:c.C159T:p.F53F exonic ENSG00000140905 NA synonymous SNV ENSG00000140905:ENST00000315467:exon2:c.C159T:p.F53F,ENSG00000140905:ENST00000566566:exon2:c.C159T:p.F53F Score=549;Name=lod=227 NA 16q23.2 Score=837;Name=V$FREAC3_01 NA NA NA rs8177876 0.05 0.05 0.033 0.0353435 0.0845 0.001 0.036 0.0393 0.0143 0.08 0.0017 0.05 0.03 0.0551 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.096323 NA NA 0.066279 0.039773 NA 0.007 NA 7.4607876 914 4 122742217 122742217 T C exonic CCNA2 NA nonsynonymous SNV CCNA2:NM_001237:exon3:c.A487G:p.I163V exonic ENSG00000145386 NA nonsynonymous SNV ENSG00000145386:ENST00000274026:exon3:c.A487G:p.I163V Score=265;Name=lod=16 NA 4q27 NA NA NA NA rs769242 0.96 0.96 0.96 0.96865 0.9493 0.9494 0.9755 0.9932 0.9703 0.96 0.94 0.97 0.99 0.9629 0.99 0.37 T 0.0 B 0.0 B 0.192 N 1.000 P -1.455 N 2.65 T -0.995 T 0.000 T 0.042 -0.008 3.974 4.14 0.408 1.143 8.623 -0.007764 NA 1 0.960572 0.985701 NA 0.964 NA 7.4605614 914 4 25417109 25417109 T A exonic ANAPC4 NA synonymous SNV ANAPC4:NM_013367:exon26:c.T1848A:p.I616I exonic ENSG00000053900 NA synonymous SNV ENSG00000053900:ENST00000315368:exon26:c.T1848A:p.I616I,ENSG00000053900:ENST00000510092:exon26:c.T1851A:p.I617I Score=349;Name=lod=35 NA 4p15.2 Score=875;Name=V$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 914 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 914 6 159653635 159653635 C G exonic FNDC1 NA synonymous SNV FNDC1:NM_032532:exon11:c.C2091G:p.A697A exonic ENSG00000164694 NA synonymous SNV ENSG00000164694:ENST00000340366:exon10:c.C1902G:p.A634A,ENSG00000164694:ENST00000297267:exon11:c.C2091G:p.A697A NA NA 6q25.3 NA NA NA NA rs381639 0.53 0.53 0.517 0.493411 0.7724 0.2768 0.6542 0.295 0.5838 0.79 0.26 0.69 0.32 0.6653 0.79 . . . . . . . . 1.000 P . . . . -1.099 T 0.010 T . 0.22 5.187 -9.46 -4.965 -1.864 1.545 0.220096 NA NA 0.769971 0.365656 NA 0.558 NA 7.4589956 914 12 987482 987482 G A exonic WNK1 NA synonymous SNV WNK1:NM_014823:exon10:c.G2325A:p.Q775Q,WNK1:NM_018979:exon10:c.G2328A:p.Q776Q,WNK1:NM_001184985:exon11:c.G3567A:p.Q1189Q,WNK1:NM_213655:exon12:c.G3822A:p.Q1274Q exonic ENSG00000060237 NA synonymous SNV ENSG00000060237:ENST00000535698:exon2:c.G138A:p.Q46Q,ENSG00000060237:ENST00000340908:exon7:c.G1107A:p.Q369Q,ENSG00000060237:ENST00000315939:exon10:c.G2328A:p.Q776Q,ENSG00000060237:ENST00000535572:exon10:c.G2325A:p.Q775Q,ENSG00000060237:ENST00000537687:exon11:c.G3567A:p.Q1189Q,ENSG00000060237:ENST00000530271:exon12:c.G3822A:p.Q1274Q NA NA 12p13.33 Score=945;Name=V$AP1FJ_Q2 NA NA NA rs1012729 0.71 0.71 0.692 0.679513 0.7336 0.8284 0.7493 0.5113 0.6483 0.74 0.82 0.74 0.54 0.734 0.82 . . . . . . . . 0.038 P . . . . -1.037 T 0.000 T . -0.284 2.642 -3.21 -0.958 -0.868 14.975 -0.283891 NA NA 0.740581 0.560372 NA 0.703 NA 7.4584856 914 1 7887493 7887493 T C exonic PER3 NA nonsynonymous SNV PER3:NM_016831:exon17:c.T2480C:p.L827P exonic ENSG00000049246 NA nonsynonymous SNV ENSG00000049246:ENST00000361923:exon17:c.T2480C:p.L827P,ENSG00000049246:ENST00000377532:exon17:c.T2504C:p.L835P NA NA 1p36.23 NA Name=E2F6,E2F6_(H-50),Sin3Ak-20,Pol2,YY1_(C-20),ELF1_(SC-631),HEY1,GABP,Pol2-4H8,TAF1,Egr-1,TR4,CCNT2 Name=17 NA rs228696 0.97 0.97 0.967 0.97524 0.9513 1 0.9654 0.9758 0.9806 0.95 1 0.97 0.97 0.9688 1 1 T 0.0 B 0.001 B 0.738 N 1.000 P 0.63 N 2.89 T -0.965 T 0.000 T 0.098 0.329 5.782 2.16 0.554 0.873 6.979 0.328617 NA 0.33 0.954767 0.973218 NA 0.978 NA 7.4584664 914 16 71319646 71319646 G A exonic FTSJD1 NA nonsynonymous SNV FTSJD1:NM_001099642:exon3:c.C178T:p.L60F,FTSJD1:NM_018348:exon3:c.C178T:p.L60F exonic ENSG00000180917 NA nonsynonymous SNV ENSG00000180917:ENST00000564183:exon2:c.C178T:p.L60F,ENSG00000180917:ENST00000565850:exon2:c.C178T:p.L60F,ENSG00000180917:ENST00000567610:exon2:c.C178T:p.L60F,ENSG00000180917:ENST00000568910:exon2:c.C178T:p.L60F,ENSG00000180917:ENST00000338099:exon3:c.C178T:p.L60F,ENSG00000180917:ENST00000434935:exon3:c.C178T:p.L60F,ENSG00000180917:ENST00000563876:exon3:c.C178T:p.L60F Score=304;Name=lod=23 NA 16q22.2 NA NA NA NA rs3096380 0.92 0.92 0.912 0.926318 0.9652 0.8284 0.9006 0.9546 0.9673 0.96 0.84 0.92 0.93 0.9463 0.96 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.005 N 2.43 T -0.966 T 0.000 T 0.179 -1.361 0.027 4.6 0.438 1.944 7.978 -1.36138 NA 0.31 0.964884 0.956096 NA 0.949 NA 7.4569494 914 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 914 9 133755528 133755528 A G exonic ABL1 NA synonymous SNV ABL1:NM_005157:exon9:c.A1497G:p.E499E,ABL1:NM_007313:exon9:c.A1554G:p.E518E exonic ENSG00000097007 NA synonymous SNV ENSG00000097007:ENST00000318560:exon9:c.A1497G:p.E499E,ENSG00000097007:ENST00000372348:exon9:c.A1554G:p.E518E Score=606;Name=lod=388 NA 9q34.12 Score=895;Name=V$STAT5B_01 NA NA NA rs2227985 0.08 0.08 0.092 0.0856629 0.0696 0.001 0.0836 0.2057 0.0286 0.08 0.0017 0.09 0.18 0.0663 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.495846 1.495846 NA 0.074535 0.171811 NA 0.109 NA 7.4562316 914 3 52584787 52584787 T C exonic PBRM1 NA synonymous SNV PBRM1:NM_018313:exon28:c.A4335G:p.P1445P exonic ENSG00000163939 NA synonymous SNV ENSG00000163939:ENST00000337303:exon26:c.A4335G:p.P1445P,ENSG00000163939:ENST00000356770:exon26:c.A4395G:p.P1465P,ENSG00000163939:ENST00000409057:exon27:c.A4491G:p.P1497P,ENSG00000163939:ENST00000409767:exon27:c.A4380G:p.P1460P,ENSG00000163939:ENST00000410007:exon27:c.A4416G:p.P1472P,ENSG00000163939:ENST00000296302:exon28:c.A4656G:p.P1552P,ENSG00000163939:ENST00000394830:exon28:c.A4335G:p.P1445P,ENSG00000163939:ENST00000409114:exon28:c.A4545G:p.P1515P Score=608;Name=lod=395 Name=Major mood disorders 3p21.1 Score=783;Name=V$MYCMAX_03 NA NA NA rs2251219 0.39 0.39 0.383 0.323083 0.4195 0.4296 0.4654 0.1452 0.2536 0.43 0.49 0.48 0.16 0.3822 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.989791 NA NA 0.408953 0.173854 NA 0.217 NA 7.4560136 914 5 43245922 43245922 C T exonic NIM1 NA synonymous SNV NIM1:NM_153361:exon2:c.C45T:p.H15H exonic ENSG00000177453 NA synonymous SNV ENSG00000177453:ENST00000326035:exon2:c.C45T:p.H15H,ENSG00000177453:ENST00000512796:exon2:c.C45T:p.H15H Score=383;Name=lod=48 NA 5p12 NA Name=EBF,BATF,BCL3 Name=6 NA rs13176855 0.29 0.29 0.295 0.28734 0.4344 0.1409 0.2622 0.2905 0.3006 0.42 0.16 0.29 0.25 0.3542 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.290142 1.290142 NA 0.422209 0.29301 NA 0.362 NA 7.4558576 914 8 19221700 19221700 G A exonic SH2D4A NA nonsynonymous SNV SH2D4A:NM_001174160:exon6:c.G689A:p.S230N,SH2D4A:NM_001174159:exon7:c.G824A:p.S275N,SH2D4A:NM_022071:exon7:c.G824A:p.S275N exonic ENSG00000104611 NA nonsynonymous SNV ENSG00000104611:ENST00000518040:exon6:c.G689A:p.S230N,ENSG00000104611:ENST00000265807:exon7:c.G824A:p.S275N,ENSG00000104611:ENST00000519207:exon7:c.G824A:p.S275N NA NA 8p21.3 NA NA NA NA rs34608771 0.18 0.18 0.164 0.177915 0.3072 0.0595 0.2378 0.0946 0.2372 0.31 0.06 0.26 0.08 0.2605 0.31 0.58 T 0.003 B 0.003 B 0.358 N 1.000 P 0.845 L 2.62 T -1.077 T 0.000 T 0.036 1.596 11.29 3.94 0.754 0.087 7.930 1.596322 1.596322 0.67 0.310349 0.126192 NA 0.123 NA 7.4552844 914 5 140230371 140230371 A C exonic PCDHA9 NA nonsynonymous SNV PCDHA9:NM_014005:exon1:c.A2291C:p.K764T,PCDHA9:NM_031857:exon1:c.A2291C:p.K764T exonic ENSG00000204961 NA nonsynonymous SNV ENSG00000204961:ENST00000378122:exon1:c.A2291C:p.K764T,ENSG00000204961:ENST00000532602:exon1:c.A2291C:p.K764T NA NA 5q31.3 Score=763;Name=V$PAX5_02 NA NA NA rs369639 0.5 0.5 0.57 0.625399 0.6312 0.4563 0.5778 0.7368 0.6769 0.51 0.4 0.6 0.55 0.623 0.72 0.01 D 0.001 B 0.0 B 0.907 U 1.000 P -0.975 N 2.79 T -1.020 T 0.000 T 0.097 0.002 4.023 -1.16 -0.430 -0.613 0.820 0.001656 NA 0.22 0.624035 0.7202 NA NA NA 7.4550984 915 14 89151392 89151392 C A exonic EML5 NA synonymous SNV EML5:NM_183387:exon20:c.G2949T:p.V983V exonic ENSG00000165521 NA synonymous SNV ENSG00000165521:ENST00000352093:exon20:c.G2835T:p.V945V,ENSG00000165521:ENST00000380664:exon20:c.G2949T:p.V983V,ENSG00000165521:ENST00000554922:exon20:c.G2949T:p.V983V Score=685;Name=lod=810 NA 14q31.3 Score=872;Name=V$TATA_01 NA NA NA rs17204164 0.03 0.03 0.031 0.0267572 0.0755 NA 0.0259 0.003 0.0368 0.08 NA 0.02 0.0041 0.0556 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 0.865542 NA NA 0.080819 0.016958 NA 0.022 NA 7.4547476 915 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 915 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 915 20 17705677 17705677 A G exonic BANF2 NA nonsynonymous SNV BANF2:NM_001014977:exon2:c.A7G:p.N3D,BANF2:NM_001159495:exon2:c.A28G:p.N10D,BANF2:NM_178477:exon3:c.A7G:p.N3D exonic ENSG00000125888 NA nonsynonymous SNV ENSG00000125888:ENST00000377805:exon2:c.A7G:p.N3D,ENSG00000125888:ENST00000545418:exon2:c.A28G:p.N10D,ENSG00000125888:ENST00000246090:exon3:c.A7G:p.N3D,ENSG00000125888:ENST00000427254:exon3:c.A7G:p.N3D NA NA 20p12.1 NA NA NA NA rs4814640 0.95 0.95 0.938 0.943291 0.9573 0.9911 0.9669 0.8608 0.9744 0.96 0.99 0.98 0.89 0.9612 0.99 0.39 T 0.0 B 0.001 B 0.743 N 1.000 P . . 0.57 T -1.031 T 0.000 T 0.019 0.493 6.676 -6.31 -1.292 -1.821 5.894 0.493263 NA 0.73 0.960581 0.886291 NA 0.957 NA 7.4542524 915 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 915 11 125476252 125476252 C G exonic STT3A NA synonymous SNV STT3A:NM_152713:exon8:c.C672G:p.L224L exonic ENSG00000134910 NA synonymous SNV ENSG00000134910:ENST00000531491:exon7:c.C396G:p.L132L,ENSG00000134910:ENST00000392708:exon8:c.C672G:p.L224L,ENSG00000134910:ENST00000529196:exon9:c.C672G:p.L224L Score=510;Name=lod=157 NA 11q24.2 Score=803;Name=V$COMP1_01 NA NA NA rs34964592 0.1 0.1 0.101 0.103634 0.0716 0.0308 0.0605 0.2436 0.0532 0.07 0.02 0.06 0.26 0.074 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.3385 1.3385 NA 0.067225 0.208314 NA 0.101 NA 7.4538416 915 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 915 1 155178782 155178782 A T exonic MTX1 NA nonsynonymous SNV MTX1:NM_002455:exon1:c.A187T:p.T63S,MTX1:NM_198883:exon1:c.A187T:p.T63S exonic ENSG00000173171 NA nonsynonymous SNV ENSG00000173171:ENST00000316721:exon1:c.A187T:p.T63S,ENSG00000173171:ENST00000368376:exon1:c.A187T:p.T63S NA NA 1q22 NA Name=HEY1,Ini1,E2F6,Pol2,HA-E2F1,Sin3Ak-20 NA NA rs760077 0.69 0.69 0.621 0.666733 0.6054 0.7738 0.7608 0.6331 0.5982 0.63 0.83 0.7 0.64 0.6688 0.83 1 T 0.0 B 0.0 B 0.139 N 1.000 P -0.975 N 1.64 T -1.021 T 0.004 T 0.024 1.467 10.85 -2.39 -0.656 -0.293 0.344 1.46657 1.46657 1 0.605561 0.676416 NA 0.217 NA 7.4535724 915 9 103348634 103348634 G A exonic MURC NA synonymous SNV MURC:NM_001018116:exon2:c.G996A:p.R332R exonic ENSG00000170681 NA synonymous SNV ENSG00000170681:ENST00000307584:exon2:c.G996A:p.R332R Score=251;Name=lod=14 NA 9q31.1 Score=906;Name=V$NFKAPPAB_01 Name=NFKB NA NA rs2780956 0.3 0.3 0.267 0.293331 0.4254 0.0804 0.4784 0.2405 0.317 0.42 0.08 0.45 0.26 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 0.315963 NA NA 0.416628 0.307081 NA 0.384 NA 7.4534386 915 19 22942325 22942325 G C exonic ZNF99 NA nonsynonymous SNV ZNF99:NM_001080409:exon4:c.C386G:p.A129G exonic ENSG00000213973 NA nonsynonymous SNV ENSG00000213973:ENST00000397104:exon4:c.C449G:p.A150G,ENSG00000213973:ENST00000596209:exon4:c.C386G:p.A129G NA NA 19p12 NA NA NA NA rs7255780 0.37 0.37 0.37 0.367412 0.2783 0.3462 0.3256 0.5386 0.2791 0.28 0.36 0.33 0.54 0.3172 0.54 1 T 0.0 B 0.0 B . . 1.000 P -2.36 N 3.32 T -0.995 T 0.000 T 0.112 -1.068 0.175 -0.806 -1.903 -0.658 4.388 -1.068074 NA 0.89 0.284598 0.499733 NA 0.5 NA 7.4532354 915 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=Pol2-4H8,Pol2(phosphoS2),Pol2,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 915 14 61449328 61449328 T A exonic SLC38A6 NA nonsynonymous SNV SLC38A6:NM_001172702:exon2:c.T208A:p.L70M,SLC38A6:NM_153811:exon2:c.T208A:p.L70M exonic ENSG00000139974 NA nonsynonymous SNV ENSG00000139974:ENST00000526105:exon1:c.T46A:p.L16M,ENSG00000139974:ENST00000267488:exon2:c.T208A:p.L70M,ENSG00000139974:ENST00000354886:exon2:c.T208A:p.L70M,ENSG00000139974:ENST00000451406:exon2:c.T193A:p.L65M,ENSG00000139974:ENST00000456840:exon2:c.T139A:p.L47M,ENSG00000139974:ENST00000491344:exon2:c.T208A:p.L70M,ENSG00000139974:ENST00000524402:exon2:c.T151A:p.L51M Score=622;Name=lod=448 NA 14q23.1 NA NA NA NA rs976272 0.88 0.88 0.874 0.84365 0.9791 0.7659 0.8602 0.8759 0.729 0.98 0.76 0.88 0.87 0.9185 0.98 1 T 0.012 B 0.012 B 0.000 N 1.000 P -2.05 N 4.35 T -1.020 T 0.000 T 0.335 0.058 4.317 4.48 0.496 6.802 8.082 0.058231 NA 1 0.983721 0.872901 NA 0.877 NA 7.4520124 915 1 20020994 20020994 C T exonic TMCO4 NA nonsynonymous SNV TMCO4:NM_181719:exon15:c.G1433A:p.R478H exonic ENSG00000162542 NA nonsynonymous SNV ENSG00000162542:ENST00000375122:exon14:c.G1313A:p.R438H,ENSG00000162542:ENST00000375127:exon14:c.G1433A:p.R478H,ENSG00000162542:ENST00000294543:exon15:c.G1433A:p.R478H NA NA 1p36.13 Score=762;Name=V$PAX5_01 NA NA NA rs4515815 0.37 0.37 0.364 0.430112 0.669 0.2837 0.5389 0.1853 0.589 0.56 0.25 0.52 0.13 0.5734 0.64 0.17 T 0.364 B 0.032 B 0.848 N 1.000 P 1.025 L 0.84 T -0.960 T 0.000 T 0.059 0.222 5.195 -3.89 -0.616 0.269 11.943 0.221549 NA 0.18 0.640116 0.263958 NA NA NA 7.4508174 915 10 129249662 129249662 G A exonic DOCK1 NA nonsynonymous SNV DOCK1:NM_001380:exon52:c.G5569A:p.A1857T exonic ENSG00000150760 NA nonsynonymous SNV ENSG00000150760:ENST00000280333:exon52:c.G5569A:p.A1857T Score=489;Name=lod=130 NA 10q26.2 NA NA NA NA rs2229603 0.88 0.88 0.866 0.865016 0.9761 0.9127 0.9409 0.6452 0.9448 0.98 0.93 0.94 0.64 0.9407 0.98 0.39 T 0.0 B 0.0 B 0.001 N 1.000 P -0.55 N 3.89 T -1.028 T 0.000 T 0.112 0.229 5.234 2.71 0.317 1.286 3.288 0.22871 NA 1 0.966033 0.696172 NA 0.862 NA 7.4505004 915 3 49946812 49946812 G A exonic MON1A NA synonymous SNV MON1A:NM_001142501:exon4:c.C1206T:p.Y402Y,MON1A:NM_032355:exon5:c.C1692T:p.Y564Y exonic ENSG00000164077 NA synonymous SNV ENSG00000164077:ENST00000455683:exon4:c.C1206T:p.Y402Y,ENSG00000164077:ENST00000296473:exon5:c.C1692T:p.Y564Y,ENSG00000164077:ENST00000417270:exon6:c.C1425T:p.Y475Y Score=640;Name=lod=533 NA 3p21.31 Score=790;Name=V$PAX5_01 NA NA NA rs61729114 0.06 0.06 0.063 0.0628994 0.0746 0.0198 0.0447 0.1104 0.044 0.07 0.03 0.05 0.1 0.0651 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63367 NA NA 0.076744 0.109396 NA 0.065 NA 7.4502226 915 11 125465862 125465862 T C exonic STT3A NA synonymous SNV STT3A:NM_152713:exon2:c.T52C:p.L18L exonic ENSG00000134910 NA synonymous SNV ENSG00000134910:ENST00000392708:exon2:c.T52C:p.L18L,ENSG00000134910:ENST00000525652:exon2:c.T52C:p.L18L,ENSG00000134910:ENST00000527606:exon2:c.T52C:p.L18L,ENSG00000134910:ENST00000529886:exon2:c.T52C:p.L18L,ENSG00000134910:ENST00000529196:exon3:c.T52C:p.L18L Score=493;Name=lod=134 NA 11q24.2 Score=740;Name=V$PPARA_01 NA NA NA rs10082632 0.1 0.1 0.097 0.104633 0.0755 0.0308 0.062 0.2436 0.0532 0.08 0.02 0.06 0.26 0.0745 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.121204 NA NA 0.06769 0.20945 NA 0.109 NA 7.4489766 915 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 915 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 915 20 25666642 25666642 C T exonic ZNF337 NA synonymous SNV ZNF337:NM_015655:exon3:c.G144A:p.L48L exonic ENSG00000130684 NA synonymous SNV ENSG00000130684:ENST00000376436:exon2:c.G144A:p.L48L,ENSG00000130684:ENST00000538750:exon2:c.G144A:p.L48L,ENSG00000130684:ENST00000252979:exon3:c.G144A:p.L48L NA NA 20p11.1 NA Name=EBF Name=12 NA rs6115256 0.08 0.08 0.074 0.0658946 0.0726 NA 0.036 0.1619 0.0184 0.08 NA 0.04 0.19 0.0707 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 0.633509 NA NA 0.077326 0.149342 NA 0.167 NA 7.4460406 915 5 134670765 134670765 A G exonic H2AFY NA synonymous SNV H2AFY:NM_001040158:exon9:c.T1017C:p.S339S,H2AFY:NM_004893:exon9:c.T1017C:p.S339S,H2AFY:NM_138609:exon9:c.T1011C:p.S337S,H2AFY:NM_138610:exon9:c.T1020C:p.S340S exonic ENSG00000113648 NA synonymous SNV ENSG00000113648:ENST00000423969:exon5:c.T504C:p.S168S,ENSG00000113648:ENST00000304332:exon9:c.T1017C:p.S339S,ENSG00000113648:ENST00000312469:exon9:c.T1011C:p.S337S,ENSG00000113648:ENST00000510038:exon9:c.T1020C:p.S340S,ENSG00000113648:ENST00000511689:exon9:c.T1020C:p.S340S Score=569;Name=lod=274 NA 5q31.1 Score=834;Name=V$GR_Q6 NA NA NA rs3210047 0.11 0.11 0.105 0.119409 0.0626 0.0556 0.0562 0.2753 0.0777 0.06 0.05 0.07 0.28 0.0857 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.01666 NA NA 0.072558 0.266909 NA 0.101 NA 7.4458086 915 2 105885961 105885961 T C exonic TGFBRAP1 NA nonsynonymous SNV TGFBRAP1:NM_001142621:exon11:c.A2174G:p.H725R,TGFBRAP1:NM_004257:exon11:c.A2174G:p.H725R exonic ENSG00000135966 NA nonsynonymous SNV ENSG00000135966:ENST00000258449:exon10:c.A2174G:p.H725R,ENSG00000135966:ENST00000393359:exon11:c.A2174G:p.H725R NA NA 2q12.1 NA NA NA NA rs2241797 0.51 0.51 0.487 0.502995 0.66 0.2827 0.6383 0.4697 0.5174 0.65 0.27 0.62 0.49 0.5812 0.65 0.66 T 0.0 B 0.002 B 0.074 N 1.000 P -0.345 N 1.03 T -0.970 T 0.000 T 0.015 -0.976 0.297 -6.99 -1.005 -0.176 11.564 -0.976266 NA 0.59 0.646895 0.489106 NA 0.464 NA 7.4452384 916 2 39082344 39082344 T C exonic DHX57 NA nonsynonymous SNV DHX57:NM_198963:exon8:c.A1760G:p.N587S exonic ENSG00000163214 NA nonsynonymous SNV ENSG00000163214:ENST00000295373:exon8:c.A1760G:p.N587S Score=592;Name=lod=340 NA 2p22.1 Score=779;Name=V$STAT5A_02 NA NA NA rs7598922 0.6 0.6 0.551 0.589058 0.6342 0.8026 0.572 0.3018 0.7229 0.65 0.81 0.58 0.31 0.6221 0.81 0.68 T 0.002 B 0.006 B 0.238 N 0.998 P -0.09 N 4.31 T -1.097 T 0.000 T 0.012 0.653 7.504 1.59 0.097 0.621 9.195 0.653311 NA 0.49 0.632209 0.347935 NA 0.486 NA 7.4448244 916 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 916 19 42753283 42753283 G A exonic ERF NA synonymous SNV ERF:NM_006494:exon4:c.C981T:p.S327S exonic ENSG00000105722 NA synonymous SNV ENSG00000105722:ENST00000222329:exon4:c.C981T:p.S327S,ENSG00000105722:ENST00000440177:exon4:c.C756T:p.S252S Score=621;Name=lod=447 NA 19q13.2 Score=789;Name=V$XBP1_01 NA NA NA rs61735151 0.06 0.06 0.057 0.0778754 0.0646 0.0843 0.0821 0.0045 0.181 0.07 0.07 0.1 0.01 0.0878 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.573394 NA NA 0.070049 0.012494 NA 0.022 NA 7.4442176 916 20 44664493 44664493 G T exonic SLC12A5 NA synonymous SNV SLC12A5:NM_001134771:exon4:c.G426T:p.R142R,SLC12A5:NM_020708:exon4:c.G357T:p.R119R exonic ENSG00000124140 NA synonymous SNV ENSG00000124140:ENST00000243964:exon4:c.G357T:p.R119R,ENSG00000124140:ENST00000372315:exon4:c.G357T:p.R119R,ENSG00000124140:ENST00000454036:exon4:c.G426T:p.R142R,ENSG00000124140:ENST00000539566:exon4:c.G357T:p.R119R Score=644;Name=lod=550 NA 20q13.12 Score=806;Name=V$MYCMAX_03 NA NA NA rs77659338 0.05 0.05 0.055 0.0427316 0.0875 NA 0.0605 0.0514 0.0164 0.09 NA 0.07 0.04 0.0614 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 1.273129 1.273129 NA 0.075698 0.05833 NA 0.007 NA 7.4420686 916 12 48543584 48543584 G C exonic ASB8 NA synonymous SNV ASB8:NM_024095:exon4:c.C432G:p.V144V exonic ENSG00000177981 NA synonymous SNV ENSG00000177981:ENST00000317697:exon4:c.C432G:p.V144V,ENSG00000177981:ENST00000536549:exon4:c.C432G:p.V144V Score=578;Name=lod=299 NA 12q13.11 Score=776;Name=V$TAXCREB_01 NA NA NA rs3936179 0.03 0.03 0.032 0.0269569 0.0835 NA 0.0346 0.0136 0.0092 0.08 NA 0.02 0.02 0.0579 0.084 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.790548 NA NA 0.084419 0.026328 NA 0.029 NA 7.4408476 916 19 33698448 33698448 G A exonic LRP3 NA synonymous SNV LRP3:NM_002333:exon7:c.G2280A:p.E760E exonic ENSG00000130881 NA synonymous SNV ENSG00000130881:ENST00000253193:exon7:c.G2280A:p.E760E Score=329;Name=lod=29 NA 19q13.11 Score=803;Name=V$CDP_01 NA NA NA rs3745973 0.1 0.1 0.075 0.08127 0.0726 0.2024 0.1052 0.0038 0.0532 0.07 0.21 0.09 0.01 0.0862 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.422067 NA NA 0.067362 0.017593 NA 0.029 NA 7.4405046 916 12 10962115 10962115 A G exonic TAS2R9 NA nonsynonymous SNV TAS2R9:NM_023917:exon1:c.T560C:p.V187A exonic ENSG00000121381 NA nonsynonymous SNV ENSG00000121381:ENST00000240691:exon1:c.T560C:p.V187A NA NA 12p13.2 NA NA NA NA rs3741845 0.58 0.58 0.543 0.53095 0.6839 0.7183 0.5749 0.1982 0.5992 0.68 0.7 0.6 0.25 0.5964 0.7 0.85 T 0.0 B 0.0 B 0.950 N 1.000 P -1.07 N 1.16 T -0.968 T 0.000 T 0.047 -0.74 0.846 -3.44 -0.834 -3.109 7.554 -0.74021 NA 1 0.612558 0.260554 NA 0.457 NA 7.4404754 916 19 55739689 55739689 G A exonic TMEM86B NA synonymous SNV TMEM86B:NM_173804:exon2:c.C168T:p.P56P exonic ENSG00000180089 NA synonymous SNV ENSG00000180089:ENST00000327042:exon2:c.C168T:p.P56P NA NA 19q13.42 Score=839;Name=V$ARNT_02 Name=NRSF,Pol2 Name=13 NA rs10413828 0.46 0.46 0.429 0.432708 0.4175 0.5992 0.4582 0.3222 0.408 0.42 0.63 0.39 0.37 0.4237 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058347 NA NA 0.38602 0.300545 NA 0.449 NA 7.4394466 916 10 116020974 116020974 C G exonic VWA2 NA synonymous SNV VWA2:NM_001272046:exon5:c.C291G:p.S97S exonic ENSG00000165816 NA synonymous SNV ENSG00000165816:ENST00000392982:exon5:c.C291G:p.S97S,ENSG00000165816:ENST00000603594:exon5:c.C291G:p.S97S NA NA 10q25.3 NA Name=NFKB,PU.1 Name=81 NA rs71484937 0.05 0.05 0.039 0.0317492 0.0964 NA 0.0749 0.0015 0.0082 0.1 NA 0.08 0.002 0.0521 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493196 NA NA 0.078953 0.019519 NA 0.022 NA 7.4392136 916 1 18807897 18807897 C G exonic KLHDC7A NA nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.C422G:p.P141R exonic ENSG00000179023 NA nonsynonymous SNV ENSG00000179023:ENST00000400664:exon1:c.C422G:p.P141R NA NA 1p36.13 NA Name=PAX5-N19,ERalpha_a Name=11 NA rs2992755 0.7 0.7 0.668 0.646965 0.6113 0.8958 0.7147 0.5688 0.4847 0.62 0.91 0.68 0.58 0.6493 0.91 0.39 T 0.0 B 0.0 B . . 1.000 P 0 N -0.68 T -1.015 T 0.000 T 0.037 1.276 10.17 1.18 -0.168 -0.040 5.254 1.275745 1.275745 0.55 0.633771 0.595671 NA 0.529 NA 7.4389624 916 21 47969793 47969793 C T exonic DIP2A NA synonymous SNV DIP2A:NM_001146114:exon20:c.C2440T:p.L814L,DIP2A:NM_001146116:exon22:c.C2620T:p.L874L,DIP2A:NM_015151:exon22:c.C2632T:p.L878L,DIP2A:NM_206889:exon22:c.C2632T:p.L878L exonic ENSG00000160305 NA synonymous SNV ENSG00000160305:ENST00000427143:exon20:c.C2440T:p.L814L,ENSG00000160305:ENST00000318711:exon22:c.C2635T:p.L879L,ENSG00000160305:ENST00000400274:exon22:c.C2620T:p.L874L,ENSG00000160305:ENST00000417564:exon22:c.C2632T:p.L878L,ENSG00000160305:ENST00000457905:exon22:c.C2632T:p.L878L Score=420;Name=lod=68 NA 21q22.3 Score=891;Name=V$MYCMAX_02 NA NA NA rs17302700 0.05 0.05 0.048 0.0397364 0.0815 0.0149 0.0591 0.0091 0.0501 0.08 0.02 0.08 0.01 0.0629 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 1.268665 1.268665 NA 0.083372 0.017492 NA 0.014 NA 7.4388946 916 4 178281754 178281754 G A exonic NEIL3 NA nonsynonymous SNV NEIL3:NM_018248:exon9:c.G1558A:p.G520R exonic ENSG00000109674 NA nonsynonymous SNV ENSG00000109674:ENST00000264596:exon9:c.G1558A:p.G520R Score=463;Name=lod=102 NA 4q34.3 NA NA NA NA rs1876268 0.96 0.96 0.958 0.931909 0.9742 0.9663 0.951 0.8941 0.8906 0.97 0.99 0.96 0.91 0.9539 0.99 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.305 N 2.24 T -0.977 T 0.000 T 0.172 -1.033 0.215 4.74 0.484 2.944 9.011 -1.0334 NA 1 0.967209 0.913981 NA 0.928 NA 7.4380244 916 4 42629038 42629038 C T exonic ATP8A1 NA synonymous SNV ATP8A1:NM_001105529:exon2:c.G138A:p.L46L,ATP8A1:NM_006095:exon2:c.G138A:p.L46L exonic ENSG00000124406 NA synonymous SNV ENSG00000124406:ENST00000264449:exon2:c.G138A:p.L46L,ENSG00000124406:ENST00000381668:exon2:c.G138A:p.L46L,ENSG00000124406:ENST00000510289:exon2:c.G138A:p.L46L Score=551;Name=lod=231 NA 4p13 NA NA Name=5 NA rs16854624 0.07 0.07 0.074 0.0826677 0.0795 0.0377 0.0418 0.1543 0.0644 0.09 0.02 0.04 0.13 0.0733 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.240192 1.240192 NA 0.07593 0.156832 NA 0.043 NA 7.4379366 916 18 47908556 47908556 G A exonic SKA1 NA nonsynonymous SNV SKA1:NM_001039535:exon4:c.G271A:p.V91I,SKA1:NM_145060:exon4:c.G271A:p.V91I exonic ENSG00000154839 NA nonsynonymous SNV ENSG00000154839:ENST00000285116:exon4:c.G271A:p.V91I,ENSG00000154839:ENST00000398452:exon4:c.G271A:p.V91I,ENSG00000154839:ENST00000417656:exon4:c.G271A:p.V91I Score=521;Name=lod=175 NA 18q21.1 NA NA NA NA rs6507992 0.76 0.76 0.769 0.804113 0.5994 0.88 0.7954 0.9251 0.7791 0.59 0.88 0.74 0.9 0.6898 0.9 1 T 0.0 B 0.003 B 0.005 N 0.000 P -0.515 N 0.91 T -0.953 T 0.000 T 0.048 -1.177 0.085 1.95 0.085 1.084 8.559 -1.176961 NA 0.9 0.606395 0.879256 NA 0.652 NA 7.4377384 916 2 98928494 98928494 G A exonic VWA3B NA nonsynonymous SNV VWA3B:NM_144992:exon27:c.G3734A:p.R1245K exonic ENSG00000168658 NA nonsynonymous SNV ENSG00000168658:ENST00000477737:exon27:c.G3734A:p.R1245K NA NA 2q11.2 NA Name=CTCFL_(SC-98982),SMC3_(ab9263),Rad21,CTCF_(SC-5916),CTCF NA NA rs7587534 0.99 0.99 0.984 0.992013 0.9652 1 0.9942 1 0.999 0.97 1 0.99 1 0.9727 1 1 T 0.0 B 0.0 B . . 1.000 P -1.1 N 3.59 T -0.943 T 0.000 T 0.163 -0.638 1.181 -4.06 -1.222 -0.659 14.704 -0.638228 NA 1 0.957793 0.991516 NA 0.993 NA 7.4376404 916 13 25027744 25027744 A G exonic PARP4 NA nonsynonymous SNV PARP4:NM_006437:exon23:c.T2807C:p.M936T exonic ENSG00000102699 NA nonsynonymous SNV ENSG00000102699:ENST00000381989:exon23:c.T2807C:p.M936T NA NA 13q12.12 NA NA NA NA rs4770684 0.94 0.94 0.936 0.936502 0.9672 0.994 0.9755 0.826 0.9673 0.97 0.99 0.98 0.81 0.9619 0.99 0.63 T 0.001 B 0.003 B 0.064 N 1.000 P 1.1 L 3.21 T -1.000 T 0.000 T 0.043 -0.793 0.694 -8.59 -2.265 -1.813 5.619 -0.793389 NA 0.29 0.966977 0.86768 NA 0.804 NA 7.4372564 916 2 109527373 109527373 A G intronic EDAR NA NA NA exonic ENSG00000135960 NA nonsynonymous SNV ENSG00000135960:ENST00000376651:exon7:c.T685C:p.F229L,ENSG00000135960:ENST00000409271:exon8:c.T685C:p.F229L NA NA 2q12.3 NA Name=CTCFL_(SC-98982) NA NA rs260630 0.93 0.93 0.936 0.927516 0.9085 0.994 0.9308 0.8979 0.9162 0.91 1 0.94 0.89 0.919 1 0.31 T 0.0 B 0.0 B . . 1.000 P . . -2.51 D -1.004 T 0.000 T 0.027 0.093 4.499 -3.69 -1.281 -0.900 3.413 0.092523 NA 1 0.902209 0.912165 NA 0.957 NA 7.4369577 916 1 179852074 179852074 T C exonic TOR1AIP1 NA nonsynonymous SNV TOR1AIP1:NM_001267578:exon1:c.T437C:p.M146T,TOR1AIP1:NM_015602:exon1:c.T437C:p.M146T exonic ENSG00000143337 NA nonsynonymous SNV ENSG00000143337:ENST00000271583:exon1:c.T437C:p.M146T,ENSG00000143337:ENST00000435319:exon1:c.T437C:p.M146T,ENSG00000143337:ENST00000528443:exon1:c.T437C:p.M146T,ENSG00000143337:ENST00000531630:exon1:c.T146C:p.M49T NA NA 1q25.2 NA Name=Sin3Ak-20,Mxi1_(bHLH),BAF155,Egr-1,AP-2gamma,TBP,Pol2(b),ELK4,AP-2alpha,Ini1,CTCF,GTF2B,Pol2,HA-E2F1,STAT1,ELF1_(SC-631),KAP1,HEY1,NFKB,TAF1,Pol2-4H8,CTCF_(SC-5916) Name=20 NA rs1281378 0.61 0.61 0.591 0.608826 0.6133 0.7778 0.6758 0.3812 0.6902 0.61 0.79 0.65 0.38 0.6503 0.79 1 T 0.0 B 0.0 B 0.441 N 1.000 P -1.905 N 2.05 T -1.002 T 0.000 T 0.175 -1.445 0.02 -1.54 -0.363 0.473 3.635 -1.444634 NA 0 0.633217 0.444268 NA 0.667 NA 7.4365164 916 3 40468896 40468896 C T exonic ENTPD3 NA nonsynonymous SNV ENTPD3:NM_001248:exon11:c.C1487T:p.A496V exonic ENSG00000168032 NA nonsynonymous SNV ENSG00000168032:ENST00000301825:exon11:c.C1487T:p.A496V,ENSG00000168032:ENST00000456402:exon11:c.C1487T:p.A496V NA NA 3p22.1 NA NA Name=5 NA rs1047855 0.28 0.28 0.245 0.277955 0.2883 0.4881 0.2867 0.0378 0.3691 0.29 0.45 0.32 0.06 0.3119 0.45 0.51 T 0.004 B 0.002 B 0.278 N 1.000 P 0 N 2.94 T -0.936 T 0.000 T 0.079 -0.082 3.599 -1.64 -0.395 0.238 5.608 -0.081966 NA 0.35 0.296628 0.085338 NA 0.254 NA 7.4365054 916 19 49867913 49867913 G A exonic DKKL1 NA nonsynonymous SNV DKKL1:NM_001197301:exon2:c.G85A:p.A29T,DKKL1:NM_014419:exon2:c.G85A:p.A29T exonic ENSG00000104901 NA nonsynonymous SNV ENSG00000104901:ENST00000221498:exon2:c.G85A:p.A29T,ENSG00000104901:ENST00000597546:exon2:c.G85A:p.A29T NA NA 19q13.33 NA NA NA NA rs919364 0.27 0.27 0.264 0.259585 0.3111 0.1766 0.2104 0.3457 0.2106 0.29 0.19 0.23 0.35 0.2686 0.35 1 T 0.0 B 0.001 B 0.686 N 1.000 P -0.69 N 2.64 T -0.938 T 0.000 T 0.014 0.424 6.302 -0.557 -0.298 -1.722 0.264 0.423838 NA 1 0.317209 0.32433 NA 0.275 NA 7.4364244 916 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 916 6 16145473 16145473 C T exonic MYLIP NA synonymous SNV MYLIP:NM_013262:exon6:c.C1173T:p.C391C exonic ENSG00000007944 NA synonymous SNV ENSG00000007944:ENST00000349606:exon5:c.C630T:p.C210C,ENSG00000007944:ENST00000356840:exon6:c.C1173T:p.C391C Score=658;Name=lod=628 NA 6p22.3 NA Name=ETS1 NA NA rs1060901 0.03 0.03 0.02 0.0249601 0.0736 0.001 0.0375 0.003 0.0204 0.08 NA 0.04 0.002 0.0674 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 1.213142 NA NA 0.089884 0.016341 ID=COSM1442092;OCCURENCE=2(large_intestine) 0.014 NA 7.4357826 916 18 13116432 13116432 G T exonic CEP192 NA nonsynonymous SNV CEP192:NM_032142:exon43:c.G7346T:p.R2449L exonic ENSG00000101639 NA nonsynonymous SNV ENSG00000101639:ENST00000430049:exon33:c.G5921T:p.R1974L,ENSG00000101639:ENST00000325971:exon41:c.G5558T:p.R1853L,ENSG00000101639:ENST00000506447:exon43:c.G7346T:p.R2449L Score=387;Name=lod=50 NA 18p11.21 NA NA NA NA rs1786263 0.75 0.75 0.784 0.775559 0.6113 0.8075 0.6441 0.9788 0.7301 0.62 0.81 0.65 0.97 0.6709 0.97 1 T 0.001 B 0.0 B 0.000 N 1.000 P -2.045 N 3.54 T -1.000 T 0.000 T 0.142 -0.277 2.675 4.76 0.785 0.755 4.897 -0.276722 NA NA 0.61593 0.920563 NA 0.688 NA 7.4352034 917 1 228612892 228612892 G A exonic HIST3H3 NA synonymous SNV HIST3H3:NM_003493:exon1:c.C135T:p.G45G exonic ENSG00000168148 NA synonymous SNV ENSG00000168148:ENST00000366696:exon1:c.C135T:p.G45G Score=346;Name=lod=34 NA 1q42.13 NA Name=Pol2,Pol2-4H8 NA NA rs56336130 0.05 0.05 0.035 0.0433307 0.0746 0.0139 0.0519 0.0061 0.0859 0.09 0.02 0.06 0.01 0.0706 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 -0.802091 NA NA 0.086744 0.017249 NA 0.043 NA 7.4347226 917 16 28995145 28995145 C T exonic SPNS1 NA synonymous SNV SPNS1:NM_001142449:exon9:c.C1137T:p.F379F,SPNS1:NM_001142451:exon10:c.C1203T:p.F401F,SPNS1:NM_032038:exon11:c.C1359T:p.F453F,SPNS1:NM_001142448:exon12:c.C1359T:p.F453F,SPNS1:NM_001142450:exon12:c.C1140T:p.F380F exonic ENSG00000169682 NA synonymous SNV ENSG00000169682:ENST00000352260:exon9:c.C1137T:p.F379F,ENSG00000169682:ENST00000334536:exon10:c.C1203T:p.F401F,ENSG00000169682:ENST00000311008:exon11:c.C1359T:p.F453F,ENSG00000169682:ENST00000323081:exon12:c.C1140T:p.F380F,ENSG00000169682:ENST00000565975:exon12:c.C1494T:p.F498F Score=540;Name=lod=209 NA 16p11.2 NA NA Name=4 NA rs4788114 0.06 0.06 0.038 0.0543131 0.0765 NA 0.2363 0.0053 0.0245 0.08 NA 0.17 0.01 0.0812 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.993088 2.993088 NA 0.074767 0.020255 NA 0.029 NA 7.4341996 917 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$PPARG_01 NA Name=6 NA rs2306641 0.35 0.35 0.348 0.294129 0.4563 0.4008 0.2104 0.2186 0.1789 0.46 0.38 0.24 0.23 0.357 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.993887 NA NA 0.419626 0.269668 NA 0.442 NA 7.4337406 917 12 57114307 57114307 A T exonic NACA NA nonsynonymous SNV NACA:NM_001113203:exon3:c.T1007A:p.V336E exonic ENSG00000196531 NA nonsynonymous SNV ENSG00000196531:ENST00000454682:exon3:c.T1007A:p.V336E,ENSG00000196531:ENST00000550952:exon3:c.T1007A:p.V336E NA NA 12q13.3 NA NA NA NA rs2958127 0.6 0.6 0.55 0.607827 0.6252 0.7401 0.6657 0.3343 0.7822 0.61 0.75 0.69 0.35 0.6536 0.75 0 D 0.053 B 0.011 B . . 1.000 P 0 N 0.95 T -0.955 T 0.000 T 0.075 2.347 13.81 -4.83 -0.683 -0.114 1.796 2.347203 2.347203 0.05 0.621301 0.41199 NA 0.551 NA 7.4332324 917 6 117708971 117708971 C T exonic ROS1 NA synonymous SNV ROS1:NM_002944:exon13:c.G1986A:p.E662E exonic ENSG00000047936 NA synonymous SNV ENSG00000047936:ENST00000368508:exon13:c.G1986A:p.E662E,ENSG00000047936:ENST00000368507:exon14:c.G1971A:p.E657E Score=448;Name=lod=88 NA 6q22.1 Score=762;Name=V$NRSF_01 NA NA NA rs9489143 0.06 0.06 0.043 0.0644968 0.0924 0.0308 0.0778 0.0295 0.1084 0.09 0.01 0.09 0.04 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 -0.630796 NA NA 0.075814 0.035406 NA 0.167 NA 7.4326526 917 X 5821786 5821786 G A exonic NLGN4X NA synonymous SNV NLGN4X:NM_020742:exon5:c.C933T:p.T311T,NLGN4X:NM_181332:exon5:c.C933T:p.T311T exonic ENSG00000146938 NA synonymous SNV ENSG00000146938:ENST00000275857:exon5:c.C933T:p.T311T,ENSG00000146938:ENST00000381095:exon5:c.C933T:p.T311T,ENSG00000146938:ENST00000538097:exon5:c.C933T:p.T311T,ENSG00000146938:ENST00000381092:exon6:c.C933T:p.T311T,ENSG00000146938:ENST00000381093:exon6:c.C993T:p.T331T Score=669;Name=lod=695 NA Xp22.32 NA NA NA NA rs7049300 0.13 0.13 0.13831 NA NA NA NA NA NA 0.11 0.14 0.07 0.19 0.1137 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 0.527542 NA NA 0.120392 0.182008 NA 0.123 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082041.3;CLNDSDB=.;CLNDSDBID=. 7.4325746 917 21 45107562 45107562 T C exonic RRP1B NA nonsynonymous SNV RRP1B:NM_015056:exon13:c.T1307C:p.L436P exonic ENSG00000160208 NA nonsynonymous SNV ENSG00000160208:ENST00000340648:exon13:c.T1307C:p.L436P NA NA 21q22.3 NA NA NA NA rs9306160 0.77 0.77 0.754 0.799521 0.6173 0.8353 0.7968 0.9788 0.7096 0.6 0.83 0.75 0.96 0.6952 0.96 0 D 0.0 B 0.0 B 0.169 N 1.000 P -0.345 N 1.48 T -0.934 T 0.000 T 0.012 -0.192 3.065 -3.16 -0.762 -0.260 0.590 -0.192446 NA 0.08 0.59092 0.924545 NA 0.717 NA 7.4299134 917 11 125525195 125525195 A G exonic CHEK1 NA nonsynonymous SNV CHEK1:NM_001244846:exon12:c.A1309G:p.I437V,CHEK1:NM_001114121:exon13:c.A1411G:p.I471V,CHEK1:NM_001114122:exon13:c.A1411G:p.I471V,CHEK1:NM_001274:exon13:c.A1411G:p.I471V exonic ENSG00000149554 NA nonsynonymous SNV ENSG00000149554:ENST00000278916:exon11:c.A1279G:p.I427V,ENSG00000149554:ENST00000427383:exon12:c.A1459G:p.I487V,ENSG00000149554:ENST00000524737:exon12:c.A1411G:p.I471V,ENSG00000149554:ENST00000544373:exon12:c.A1309G:p.I437V,ENSG00000149554:ENST00000428830:exon13:c.A1411G:p.I471V,ENSG00000149554:ENST00000438015:exon13:c.A1411G:p.I471V,ENSG00000149554:ENST00000534070:exon13:c.A1411G:p.I471V Score=610;Name=lod=402 NA 11q24.2 NA NA Name=8 NA rs506504 0.98 0.98 0.984 0.985823 0.9672 1 0.9726 0.997 0.9847 0.97 1 0.97 0.99 0.9726 1 1 T 0.0 B 0.001 B 0.001 N 1.000 P -0.895 N -0.16 T -0.951 T 0.000 T 0.056 -0.213 2.97 1.8 0.448 1.178 2.296 -0.212733 NA 1 0.963712 0.993639 NA 0.986 NA 7.4298214 917 19 42753034 42753034 A G exonic ERF NA synonymous SNV ERF:NM_006494:exon4:c.T1230C:p.A410A exonic ENSG00000105722 NA synonymous SNV ENSG00000105722:ENST00000222329:exon4:c.T1230C:p.A410A,ENSG00000105722:ENST00000440177:exon4:c.T1005C:p.A335A NA NA 19q13.2 Score=863;Name=V$MZF1_02 Name=Pol2 NA NA rs35493131 0.09 0.09 0.081 0.101637 0.0706 0.0546 0.0951 0.1135 0.1708 0.08 0.04 0.12 0.16 0.0979 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657045 NA NA 0.068775 0.105483 NA 0.043 NA 7.4293916 917 11 59225221 59225221 T C exonic OR4D6 NA nonsynonymous SNV OR4D6:NM_001004708:exon1:c.T788C:p.M263T exonic ENSG00000166884 NA nonsynonymous SNV ENSG00000166884:ENST00000300127:exon1:c.T788C:p.M263T NA NA 11q12.1 NA NA NA NA rs1453541 0.29 0.29 0.272 0.265375 0.2972 0.1845 0.2695 0.3245 0.2331 0.31 0.21 0.3 0.32 0.2912 0.33 1 T 0.0 B 0.0 B 0.608 N 1.000 P -2.37 N 8.8 T -0.972 T 0.000 T 0.007 -3.143 0.001 -2.74 -0.898 -0.221 4.660 -3.14294 NA 1 0.315949 0.333712 NA 0.203 NA 7.4289844 917 4 5624670 5624670 T C exonic EVC2 NA nonsynonymous SNV EVC2:NM_001166136:exon14:c.A1855G:p.T619A,EVC2:NM_147127:exon14:c.A2095G:p.T699A exonic ENSG00000173040 NA nonsynonymous SNV ENSG00000173040:ENST00000310917:exon14:c.A1855G:p.T619A,ENSG00000173040:ENST00000344408:exon14:c.A2095G:p.T699A,ENSG00000173040:ENST00000344938:exon14:c.A2095G:p.T699A,ENSG00000173040:ENST00000475313:exon14:c.A1855G:p.T619A NA NA 4p16.2 NA NA NA NA rs730469 0.5 0.5 0.507 0.517572 0.2555 0.62 0.3963 0.8775 0.2812 0.27 0.58 0.39 0.86 0.3706 0.86 0.87 T 0.0 B 0.0 B 0.530 N 1.000 P -0.235 N -0.78 T -0.961 T 0.000 T 0.057 -2.288 0.004 0.373 -0.092 1.480 1.458 -2.28829 NA 1 0.278256 0.773264 NA 0.478 NA 7.4289774 917 19 42753649 42753649 G C exonic ERF NA synonymous SNV ERF:NM_006494:exon4:c.C615G:p.R205R exonic ENSG00000105722 NA synonymous SNV ENSG00000105722:ENST00000222329:exon4:c.C615G:p.R205R,ENSG00000105722:ENST00000440177:exon4:c.C390G:p.R130R Score=329;Name=lod=29 NA 19q13.2 Score=832;Name=V$PAX4_01 NA NA NA rs11557114 0.07 0.07 0.048 0.0854633 0.0716 0.0556 0.0922 0.0446 0.181 0.07 0.04 0.11 0.07 0.0959 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 -1.388828 NA NA 0.070928 0.046411 NA 0.051 NA 7.4282386 917 5 172550204 172550204 C T exonic CREBRF NA synonymous SNV CREBRF:NM_153607:exon8:c.C1803T:p.L601L exonic ENSG00000164463 NA synonymous SNV ENSG00000164463:ENST00000296953:exon8:c.C1803T:p.L601L,ENSG00000164463:ENST00000540014:exon9:c.C1809T:p.L603L Score=659;Name=lod=635 NA 5q35.1 Score=871;Name=V$NCX_01 NA NA NA rs1129146 0.11 0.11 0.142 0.153355 0.0736 0.0139 0.0749 0.3517 0.1667 0.07 0.0035 0.1 0.32 0.0933 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468119 NA NA 0.072326 0.283477 NA 0.167 NA 7.4274406 917 11 4510285 4510285 A G exonic OR52K1 NA nonsynonymous SNV OR52K1:NM_001005171:exon1:c.A155G:p.Q52R exonic ENSG00000196778 NA nonsynonymous SNV ENSG00000196778:ENST00000307632:exon1:c.A155G:p.Q52R NA NA 11p15.4 NA NA NA NA rs96489 0.35 0.35 0.354 0.383986 0.2952 0.3194 0.2161 0.5477 0.4397 0.27 0.35 0.27 0.55 0.3153 0.55 0.9 T 0.0 B 0.0 B 0.667 N 1.000 P -0.95 N 4.1 T -0.970 T 0.000 T 0.013 -3.198 0.001 -1.92 -0.754 -6.840 7.262 -3.197733 NA 0.76 0.295952 0.504316 ID=COSM147107;OCCURENCE=1(stomach) 0.319 NA 7.4268814 917 10 104814162 104814162 T C exonic CNNM2 NA synonymous SNV CNNM2:NM_017649:exon3:c.T1842C:p.S614S,CNNM2:NM_199076:exon3:c.T1842C:p.S614S exonic ENSG00000148842 NA synonymous SNV ENSG00000148842:ENST00000369878:exon3:c.T1842C:p.S614S,ENSG00000148842:ENST00000433628:exon3:c.T1842C:p.S614S,ENSG00000148842:ENST00000457502:exon3:c.T1116C:p.S372S Score=720;Name=lod=1125 NA 10q24.32 NA Name=GATA3_(SC-268),GATA-1,GATA-2 Name=11 NA rs2275271 0.43 0.43 0.423 0.432508 0.4145 0.5863 0.4135 0.3328 0.4407 0.42 0.56 0.38 0.34 0.4199 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.815677 NA NA 0.405454 0.358118 NA 0.312 NA 7.4268126 917 19 7711221 7711221 T C exonic STXBP2 NA synonymous SNV STXBP2:NM_001127396:exon16:c.T1434C:p.D478D,STXBP2:NM_001272034:exon16:c.T1476C:p.D492D,STXBP2:NM_006949:exon16:c.T1443C:p.D481D exonic ENSG00000076944 NA synonymous SNV ENSG00000076944:ENST00000602355:exon1:c.T48C:p.D16D,ENSG00000076944:ENST00000221283:exon16:c.T1443C:p.D481D,ENSG00000076944:ENST00000414284:exon16:c.T1434C:p.D478D,ENSG00000076944:ENST00000441779:exon16:c.T1476C:p.D492D Score=479;Name=lod=118 NA 19p13.2 Score=937;Name=V$TCF11_01 NA Name=2 NA rs10001 0.51 0.51 0.517 0.504193 0.4036 0.7034 0.4669 0.5356 0.3865 0.41 0.72 0.41 0.51 0.4626 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.277934 NA NA 0.37407 0.496594 ID=COSM1178455;OCCURENCE=1(prostate) 0.558 NA 7.4263966 917 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 917 6 11213832 11213832 T C exonic NEDD9 NA synonymous SNV NEDD9:NM_006403:exon2:c.A141G:p.S47S,NEDD9:NM_182966:exon2:c.A141G:p.S47S,NEDD9:NM_001142393:exon3:c.A141G:p.S47S exonic ENSG00000111859 NA synonymous SNV ENSG00000111859:ENST00000379433:exon2:c.A141G:p.S47S,ENSG00000111859:ENST00000379446:exon2:c.A141G:p.S47S,ENSG00000111859:ENST00000504387:exon3:c.A141G:p.S47S Score=593;Name=lod=344 NA 6p24.2 NA Name=Pol2 Name=3 NA rs3734404 0.45 0.45 0.462 0.439896 0.4324 0.4097 0.3775 0.5961 0.3119 0.42 0.42 0.38 0.59 0.3944 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.370981 1.370981 NA 0.414419 0.560145 NA 0.478 NA 7.4254476 917 11 58478084 58478084 T C exonic GLYAT NA nonsynonymous SNV GLYAT:NM_005838:exon5:c.A467G:p.N156S,GLYAT:NM_201648:exon5:c.A467G:p.N156S exonic ENSG00000149124 NA nonsynonymous SNV ENSG00000149124:ENST00000278400:exon5:c.A467G:p.N156S,ENSG00000149124:ENST00000344743:exon5:c.A467G:p.N156S,ENSG00000149124:ENST00000529732:exon5:c.A467G:p.N156S NA NA 11q12.1 NA NA NA NA rs675815 0.94 0.94 0.939 0.926518 0.9761 0.8046 0.9568 0.9985 0.8824 0.97 0.83 0.98 1 0.9505 1 1 T 0.0 B 0.001 B 0.201 N 1.000 P -0.315 N 2.6 T -0.991 T 0.000 T 0.009 -0.898 0.442 -8.33 -2.311 -3.403 4.582 -0.897961 NA 0.85 0.981723 0.992503 NA 0.978 NA 7.4250104 918 11 6341684 6341684 C G exonic PRKCDBP NA nonsynonymous SNV PRKCDBP:NM_145040:exon1:c.G23C:p.R8P exonic ENSG00000170955 NA nonsynonymous SNV ENSG00000170955:ENST00000303927:exon1:c.G23C:p.R8P,ENSG00000170955:ENST00000530979:exon1:c.G23C:p.R8P NA NA 11p15.4 NA Name=TBP,c-Fos,TAF1,Pol2-4H8,Pol2(phosphoS2),Pol2,TAF7_(SQ-8),E2F6 Name=115 NA rs2682123 0.96 0.96 0.937 0.946486 0.9682 1 0.9683 0.8578 0.9734 0.97 1 0.97 0.88 0.969 1 0.35 T 0.0 B 0.0 B 0.875 N 1.000 P -0.69 N 1.77 T -1.017 T 0.000 T 0.051 -0.678 1.044 2.01 0.020 0.309 3.901 -0.677969 NA 1 0.971332 0.890837 NA 0.232 NA 7.4248014 918 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 918 19 10527645 10527645 C G exonic PDE4A NA synonymous SNV PDE4A:NM_001243121:exon2:c.C27G:p.S9S exonic ENSG00000065989 NA synonymous SNV ENSG00000065989:ENST00000380702:exon1:c.C27G:p.S9S,ENSG00000065989:ENST00000592685:exon2:c.C27G:p.S9S NA NA 19p13.2 NA Name=KAP1,STAT1,ELF1_(SC-631),EBF1_(C-8),eGFP-JunB,CTCF_(SC-5916),CTCF_(C-20),ZEB1_(SC-25388),IRF4_(M-17),Znf143_(16618-1-AP),E2F6_(H-50),CTCF,HDAC2_(SC-6296),Pol2,SMC3_(ab9263),ZNF263,YY1,ZBTB7A_(SC-34508),SETDB1,IRF1,YY1_(C-20) Name=148 NA rs117320342 0.05 0.05 0.039 0.0421326 0.0855 0.004 0.0447 0.0325 0.0481 0.08 0.0017 0.07 0.04 0.0875 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 0.758025 NA NA 0.070325 0.031991 NA 0.043 NA 7.4233416 918 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 918 17 39925925 39925925 A G exonic JUP NA synonymous SNV JUP:NM_002230:exon3:c.T213C:p.D71D,JUP:NM_021991:exon3:c.T213C:p.D71D exonic ENSG00000173801 NA synonymous SNV ENSG00000173801:ENST00000540235:exon2:c.T213C:p.D71D,ENSG00000173801:ENST00000310706:exon3:c.T213C:p.D71D,ENSG00000173801:ENST00000393930:exon3:c.T213C:p.D71D,ENSG00000173801:ENST00000393931:exon3:c.T213C:p.D71D,ENSG00000173801:ENST00000420370:exon3:c.T213C:p.D71D,ENSG00000173801:ENST00000437187:exon3:c.T213C:p.D71D,ENSG00000173801:ENST00000449889:exon3:c.T213C:p.D71D,ENSG00000173801:ENST00000591690:exon3:c.T213C:p.D71D,ENSG00000173801:ENST00000424457:exon4:c.T213C:p.D71D,ENSG00000173801:ENST00000437369:exon4:c.T213C:p.D71D Score=488;Name=lod=128 NA 17q21.2 NA Name=Pol2,GR Name=7 NA rs7405731 0.71 0.71 0.762 0.715655 0.7525 0.5238 0.5706 0.8933 0.7382 0.77 0.52 0.58 0.92 0.7364 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 1.138803 NA NA 0.755233 0.874262 NA 0.804 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039076.1;CLNDSDB=.;CLNDSDBID=. 7.4225336 918 9 131565554 131565554 T C exonic TBC1D13 NA nonsynonymous SNV TBC1D13:NM_018201:exon8:c.T569C:p.V190A exonic ENSG00000107021 NA nonsynonymous SNV ENSG00000107021:ENST00000539497:exon4:c.T26C:p.V9A,ENSG00000107021:ENST00000372648:exon8:c.T569C:p.V190A NA NA 9q34.11 NA NA NA NA rs1572912 0.42 0.42 0.464 0.503195 0.2863 0.3571 0.2637 0.9206 0.4826 0.24 0.36 0.28 0.88 0.3452 0.88 0.85 T 0.0 B 0.0 B 0.540 N 1.000 P 0.425 N 1.55 T -0.971 T 0.000 T 0.017 -0.838 0.579 2.49 0.013 0.664 6.324 -0.838026 NA 1 0.283023 0.811621 NA 0.486 NA 7.4188104 918 16 1270162 1270162 G A exonic CACNA1H NA nonsynonymous SNV CACNA1H:NM_001005407:exon34:c.G6212A:p.R2071H,CACNA1H:NM_021098:exon35:c.G6230A:p.R2077H exonic ENSG00000196557 NA nonsynonymous SNV ENSG00000196557:ENST00000565831:exon33:c.G6212A:p.R2071H,ENSG00000196557:ENST00000358590:exon34:c.G6212A:p.R2071H,ENSG00000196557:ENST00000348261:exon35:c.G6230A:p.R2077H Score=272;Name=lod=17 NA 16p13.3 NA NA NA NA rs1054645 0.73 0.73 0.709 0.700679 0.6441 0.8681 0.7075 0.7262 0.547 0.63 0.91 0.68 0.7 0.6628 0.91 0.3 T 0.001 B 0.001 B . . 1.000 P -0.895 N 1.43 T -1.048 T 0.000 T 0.231 0.689 7.681 0.758 0.095 -0.663 8.247 0.689039 NA 0.16 0.608049 0.727501 ID=COSM434645,COSM434644;OCCURENCE=1(breast) 0.725 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082076.1;CLNDSDB=.;CLNDSDBID=. 7.4183844 918 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$AP4_01 Name=ERalpha_a,ZNF263 NA NA rs1800300 0.69 0.69 0.714 0.714457 0.7634 0.6518 0.562 0.7186 0.8313 0.76 0.67 0.57 0.71 0.7367 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41148 NA NA 0.749011 0.697548 NA 0.616 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078180.2;CLNDSDB=.;CLNDSDBID=. 7.4175556 918 16 84228237 84228237 A C intronic ADAD2 NA NA NA ncRNA_exonic ENSG00000250685 NA NA NA NA NA 16q24.1 NA Name=CTCF,Rad21 Name=12 NA rs11646787 0.64 0.64 0.626 0.624601 0.6481 0.5258 0.6772 0.7231 0.5317 0.66 0.56 0.65 0.72 0.6325 0.72 0 D 0.0 B 0.0 B . . 1.000 P . . . . -0.989 T 0.000 T . 0.351 5.905 -0.289 -0.403 -3.087 0.828 0.351086 NA NA 0.635261 0.707547 NA 0.609 NA 7.4174723 918 19 48836673 48836673 G T exonic TMEM143 NA synonymous SNV TMEM143:NM_018273:exon8:c.C1183A:p.R395R exonic ENSG00000161558 NA synonymous SNV ENSG00000161558:ENST00000377431:exon6:c.C883A:p.R295R,ENSG00000161558:ENST00000541566:exon6:c.C853A:p.R285R,ENSG00000161558:ENST00000435956:exon7:c.C1078A:p.R360R,ENSG00000161558:ENST00000436660:exon7:c.C988A:p.R330R,ENSG00000161558:ENST00000293261:exon8:c.C1183A:p.R395R Score=343;Name=lod=33 NA 19q13.33 Score=856;Name=V$E47_01 Name=ZEB1_(SC-25388),NFKB,Pol2-4H8,ELF1_(SC-631),HEY1,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 918 12 14688644 14688644 C T exonic PLBD1 NA nonsynonymous SNV PLBD1:NM_024829:exon6:c.G793A:p.V265I exonic ENSG00000121316 NA nonsynonymous SNV ENSG00000121316:ENST00000240617:exon6:c.G793A:p.V265I Score=560;Name=lod=252 NA 12p13.1 NA NA NA NA rs7957558 0.92 0.92 0.919 0.885184 0.9841 0.9861 0.9553 0.6346 0.9683 0.99 0.99 0.95 0.7 0.9546 0.99 1 T 0.001 B 0.001 B 0.000 N 1.000 P -0.875 N 2.39 T -0.973 T 0.000 T 0.034 -0.69 1.003 3.14 0.410 1.571 6.491 -0.690214 NA 1 0.977442 0.695642 NA 0.942 NA 7.4171914 918 6 43014299 43014299 T C exonic CUL7 NA nonsynonymous SNV CUL7:NM_001168370:exon11:c.A2690G:p.Q897R,CUL7:NM_014780:exon11:c.A2438G:p.Q813R exonic ENSG00000044090 NA nonsynonymous SNV ENSG00000044090:ENST00000265348:exon11:c.A2438G:p.Q813R,ENSG00000044090:ENST00000535468:exon11:c.A2690G:p.Q897R Score=620;Name=lod=442 NA 6p21.1 Score=892;Name=V$SPZ1_01 NA NA NA rs9381231 0.78 0.78 0.99 0.990216 0.9722 1 0.9827 0.9992 0.9918 0.75 0.84 0.83 0.73 0.9766 0.99 1 T 0.0 B 0.001 B 0.000 N 0.000 P -1.01 N -0.22 T -1.003 T 0.026 T 0.03 -0.033 3.846 1.63 0.282 1.448 9.887 -0.032857 NA 1 0.967791 0.994553 NA NA NA 7.4167424 918 11 101857758 101857758 G A exonic KIAA1377 NA nonsynonymous SNV KIAA1377:NM_020802:exon9:c.G3230A:p.S1077N exonic ENSG00000110318 NA nonsynonymous SNV ENSG00000110318:ENST00000537689:exon6:c.G2633A:p.S878N,ENSG00000110318:ENST00000263468:exon9:c.G3230A:p.S1077N Score=352;Name=lod=36 NA 11q22.1 NA NA NA NA rs6590942 0.98 0.98 0.984 0.98742 0.9622 1 0.9755 0.9977 0.9949 0.97 1 0.97 0.99 0.9815 1 1 T 0.0 B 0.0 B 0.002 N 1.000 P -1.265 N 4.04 T -0.986 T 0.000 T 0.025 -0.524 1.61 4.24 0.431 3.110 9.406 -0.524346 NA 1 0.973133 0.995007 NA 0.92 NA 7.4165004 918 2 103431404 103431404 T C exonic TMEM182 NA nonsynonymous SNV TMEM182:NM_144632:exon5:c.T667C:p.W223R exonic ENSG00000170417 NA nonsynonymous SNV ENSG00000170417:ENST00000409528:exon5:c.T379C:p.W127R,ENSG00000170417:ENST00000412401:exon5:c.T667C:p.W223R,ENSG00000170417:ENST00000409173:exon6:c.T538C:p.W180R Score=405;Name=lod=59 NA 2q12.1 NA NA NA NA rs887987 0.99 0.99 0.988 0.991613 0.9742 1 0.9914 1 0.9898 0.97 1 0.99 1 0.9765 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.735 N 1.41 T -0.971 T 0.000 T 0.08 -0.508 1.674 2.93 0.418 1.007 8.282 -0.508161 NA 1 0.966279 0.992056 NA 0.993 NA 7.4163544 918 1 6215736 6215736 C G exonic CHD5 NA synonymous SNV CHD5:NM_015557:exon4:c.G429C:p.L143L exonic ENSG00000116254 NA synonymous SNV ENSG00000116254:ENST00000262450:exon4:c.G429C:p.L143L,ENSG00000116254:ENST00000496404:exon4:c.G429C:p.L143L Score=496;Name=lod=138 NA 1p36.31 Score=827;Name=V$PAX3_01 NA NA NA rs12074369 0.12 0.12 0.123 0.149161 0.0805 0.0079 0.0605 0.3714 0.1278 0.08 0.01 0.06 0.35 0.0956 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.023076 NA NA 0.074767 0.315933 NA 0.181 NA 7.4157996 918 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 919 15 91827264 91827264 C T exonic SV2B NA synonymous SNV SV2B:NM_001167580:exon10:c.C1068T:p.H356H,SV2B:NM_014848:exon12:c.C1521T:p.H507H exonic ENSG00000185518 NA synonymous SNV ENSG00000185518:ENST00000330276:exon10:c.C1521T:p.H507H,ENSG00000185518:ENST00000545111:exon10:c.C1068T:p.H356H,ENSG00000185518:ENST00000394232:exon11:c.C1521T:p.H507H,ENSG00000185518:ENST00000557410:exon12:c.C1521T:p.H507H Score=618;Name=lod=433 NA 15q26.1 NA Name=CTCF NA NA rs2301664 0.11 0.11 0.112 0.128195 0.0765 0.0506 0.062 0.261 0.1288 0.07 0.05 0.07 0.27 0.096 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.84169 NA NA 0.079339 0.232029 NA 0.145 NA 7.4148276 919 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 919 9 114804173 114804173 G A exonic SUSD1 NA synonymous SNV SUSD1:NM_022486:exon16:c.C2217T:p.L739L exonic ENSG00000106868 NA synonymous SNV ENSG00000106868:ENST00000374270:exon16:c.C2217T:p.L739L NA NA 9q31.3 NA Name=JunD,GR,c-Fos,AP-2gamma,STAT3,ERalpha_a,p300_(N-15),BATF,Pol2-4H8,c-Jun,TCF12,p300,USF-1 Name=118 NA rs3849117 0.05 0.05 0.043 0.0684904 0.0815 0.0625 0.0346 0.0053 0.1708 0.09 0.05 0.05 0.0041 0.0885 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 -1.059386 NA NA 0.082326 0.015433 NA 0.123 NA 7.4143406 919 3 108754238 108754238 A T exonic MORC1 NA nonsynonymous SNV MORC1:NM_014429:exon15:c.T1408A:p.F470I exonic ENSG00000114487 NA nonsynonymous SNV ENSG00000114487:ENST00000232603:exon15:c.T1408A:p.F470I,ENSG00000114487:ENST00000483760:exon15:c.T1408A:p.F470I NA NA 3q13.13 NA NA NA NA rs4855576 0.9 0.9 0.89 0.888179 0.9881 1 0.9409 0.6346 0.9755 0.99 1 0.92 0.64 0.9548 1 0.55 T 0.0 B 0.0 B 0.772 N 1.000 P -1.245 N 3.55 T -1.029 T 0.000 T 0.025 -1.626 0.013 -8.08 -2.032 -2.147 3.673 -1.625594 NA 0.6 0.977907 0.703359 NA 0.884 NA 7.4125264 919 15 90213229 90213229 G C exonic PLIN1 NA nonsynonymous SNV PLIN1:NM_001145311:exon5:c.C580G:p.P194A,PLIN1:NM_002666:exon5:c.C580G:p.P194A exonic ENSG00000166819 NA nonsynonymous SNV ENSG00000166819:ENST00000300055:exon5:c.C580G:p.P194A,ENSG00000166819:ENST00000430628:exon5:c.C580G:p.P194A NA NA 15q26.1 NA NA NA NA rs6496589 0.91 0.91 0.919 0.895767 0.9861 0.7619 0.8401 0.9788 0.8681 0.98 0.76 0.88 0.98 0.9382 1 0.6 T 0.002 B 0.019 B 0.121 N 1.000 P 0.92 L 3.37 T -0.938 T 0.000 T 0.046 -1.069 0.173 3.11 1.134 0.527 9.639 -1.069191 NA 0.51 0.997558 0.973409 NA 0.978 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117994.2;CLNDSDB=.;CLNDSDBID=. 7.4114754 919 5 112349070 112349070 T C exonic DCP2 NA synonymous SNV DCP2:NM_001242377:exon10:c.T1047C:p.A349A,DCP2:NM_152624:exon11:c.T1152C:p.A384A exonic ENSG00000172795 NA synonymous SNV ENSG00000172795:ENST00000543319:exon9:c.T519C:p.A173A,ENSG00000172795:ENST00000515408:exon10:c.T1047C:p.A349A,ENSG00000172795:ENST00000389063:exon11:c.T1152C:p.A384A NA NA 5q22.2 Score=863;Name=V$NFE2_01 NA NA NA rs9326869 0.79 0.79 0.796 0.784145 0.7435 0.7817 0.7824 0.8427 0.7505 0.75 0.83 0.76 0.85 0.7559 0.85 . . . . . . . . 0.000 P . . . . . . . . . -0.657 1.115 -11.7 -3.211 -4.637 16.104 -0.657084 NA NA 0.756279 0.849682 NA 0.746 NA 7.4109876 919 11 12903443 12903443 C T exonic TEAD1 NA synonymous SNV TEAD1:NM_021961:exon8:c.C513T:p.D171D exonic ENSG00000187079 NA synonymous SNV ENSG00000187079:ENST00000526600:exon3:c.C225T:p.D75D,ENSG00000187079:ENST00000361985:exon7:c.C513T:p.D171D,ENSG00000187079:ENST00000527575:exon7:c.C513T:p.D171D,ENSG00000187079:ENST00000334310:exon8:c.C480T:p.D160D,ENSG00000187079:ENST00000361905:exon8:c.C468T:p.D156D,ENSG00000187079:ENST00000527636:exon8:c.C513T:p.D171D Score=586;Name=lod=321 NA 11p15.2 Score=773;Name=V$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 919 14 59112732 59112732 C T exonic DACT1 NA nonsynonymous SNV DACT1:NM_001079520:exon4:c.C1280T:p.A427V,DACT1:NM_016651:exon4:c.C1391T:p.A464V exonic ENSG00000165617 NA nonsynonymous SNV ENSG00000165617:ENST00000335867:exon4:c.C1391T:p.A464V,ENSG00000165617:ENST00000395151:exon4:c.C548T:p.A183V,ENSG00000165617:ENST00000395153:exon4:c.C1280T:p.A427V,ENSG00000165617:ENST00000541264:exon4:c.C548T:p.A183V,ENSG00000165617:ENST00000556859:exon4:c.C548T:p.A183V NA NA 14q23.1 NA NA NA NA rs17832998 0.27 0.27 0.253 0.269569 0.3161 0.2738 0.1902 0.2443 0.3078 0.31 0.24 0.22 0.29 0.287 0.32 0.31 T 0.033 B 0.02 B 0.228 N 1.000 P 0.715 N 0.79 T -0.969 T 0.000 T 0.061 0.606 7.265 2.42 0.206 0.062 8.585 0.606015 NA 0.13 0.319419 0.260672 NA 0.225 NA 7.4108144 919 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 919 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 919 3 33174156 33174156 T G exonic CRTAP NA synonymous SNV CRTAP:NM_006371:exon5:c.T1032G:p.T344T exonic ENSG00000170275 NA synonymous SNV ENSG00000170275:ENST00000449224:exon4:c.T903G:p.T301T,ENSG00000170275:ENST00000320954:exon5:c.T1032G:p.T344T Score=592;Name=lod=339 NA 3p22.3 Score=826;Name=V$GR_Q6 NA Name=3 NA rs1135127 0.28 0.28 0.283 0.29353 0.4354 0.1548 0.268 0.2451 0.3742 0.42 0.11 0.33 0.24 0.3752 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.2831 NA NA 0.445465 0.265093 ID=COSM149349;OCCURENCE=1(stomach) 0.268 NA 7.4106016 919 12 132682481 132682481 T G exonic GALNT9 NA synonymous SNV GALNT9:NM_021808:exon6:c.A423C:p.G141G,GALNT9:NM_001122636:exon10:c.A1521C:p.G507G exonic ENSG00000182870 NA synonymous SNV ENSG00000182870:ENST00000541995:exon5:c.A423C:p.G141G,ENSG00000182870:ENST00000397325:exon6:c.A423C:p.G141G,ENSG00000182870:ENST00000535228:exon7:c.A774C:p.G258G,ENSG00000182870:ENST00000328957:exon10:c.A1521C:p.G507G Score=425;Name=lod=71 NA 12q24.33 Score=808;Name=V$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 919 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 919 14 96771959 96771959 A G exonic ATG2B NA nonsynonymous SNV ATG2B:NM_018036:exon31:c.T4700C:p.I1567T exonic ENSG00000066739 NA nonsynonymous SNV ENSG00000066739:ENST00000359933:exon31:c.T4700C:p.I1567T NA NA 14q32.2 NA NA NA NA rs2289622 0.91 0.91 0.91 0.89357 0.9881 0.7629 0.9294 0.9508 0.8282 0.99 0.78 0.93 0.95 0.9445 0.99 0.89 T 0.0 B 0.0 B 0.287 N 1.000 P -1.955 N 3.16 T -1.002 T 0.000 T 0.038 -0.506 1.683 4.51 1.284 1.716 9.272 -0.505895 NA 0.69 0.991744 0.953473 NA 0.92 NA 7.4089894 919 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 919 5 135178142 135178142 A G exonic SLC25A48 NA synonymous SNV SLC25A48:NM_145282:exon2:c.A84G:p.T28T exonic ENSG00000145832 NA nonsynonymous SNV ENSG00000145832:ENST00000462340:exon2:c.A43G:p.S15G Score=491;Name=lod=132 NA 5q31.1 Score=799;Name=V$PAX3_01 NA NA NA rs6596270 0.15 0.15 0.137 0.137979 0.2117 0.0099 0.1225 0.208 0.1104 0.21 0.01 0.14 0.22 0.1714 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.168263 NA NA 0.20992 0.1742 NA 0.13 NA 7.40698 919 14 68234539 68234539 T C exonic ZFYVE26 NA nonsynonymous SNV ZFYVE26:NM_015346:exon31:c.A5672G:p.N1891S exonic ENSG00000072121 NA nonsynonymous SNV ENSG00000072121:ENST00000347230:exon31:c.A5672G:p.N1891S,ENSG00000072121:ENST00000555452:exon31:c.A5672G:p.N1891S NA NA 14q24.1 Score=844;Name=V$IRF1_01 NA NA NA rs3742883 0.92 0.92 0.913 0.903155 0.9861 0.8562 0.8905 0.8253 0.9806 0.99 0.87 0.94 0.85 0.9546 0.99 1 T 0.0 B 0.001 B 0.333 N 1.000 P . . 1.94 T -1.001 T 0.000 T 0.008 -2.4 0.003 -2.67 -0.809 -0.394 7.608 -2.399982 NA 0.9 0.985814 0.855651 NA 0.92 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118901.2;CLNDSDB=.;CLNDSDBID=. 7.4068194 919 20 25195509 25195509 A G exonic ENTPD6 NA nonsynonymous SNV ENTPD6:NM_001114089:exon5:c.A553G:p.K185E,ENTPD6:NM_001247:exon6:c.A604G:p.K202E exonic ENSG00000197586 NA nonsynonymous SNV ENSG00000197586:ENST00000417467:exon4:c.A406G:p.K136E,ENSG00000197586:ENST00000418890:exon4:c.A409G:p.K137E,ENSG00000197586:ENST00000354989:exon5:c.A553G:p.K185E,ENSG00000197586:ENST00000425813:exon5:c.A460G:p.K154E,ENSG00000197586:ENST00000439162:exon5:c.A550G:p.K184E,ENSG00000197586:ENST00000360031:exon6:c.A601G:p.K201E,ENSG00000197586:ENST00000376652:exon6:c.A604G:p.K202E,ENSG00000197586:ENST00000433259:exon6:c.A604G:p.K202E Score=393;Name=lod=53 NA 20p11.21 NA NA NA NA rs6050446 0.99 0.99 0.981 0.993211 0.9692 1 0.9986 0.9992 0.999 0.96 1 1 1 0.984 1 1 T 0.001 B 0.002 B 0.002 N 1.000 P -1.42 N 2.82 T -0.961 T 0.000 T 0.361 -0.633 1.2 5.06 0.896 3.323 11.084 -0.632726 NA 1 0.973605 0.995007 NA 1 NA 7.4065284 919 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 919 19 9059232 9059232 T C exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A28214G:p.Q9405R exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A28214G:p.Q9405R NA NA 19p13.2 NA NA NA NA rs12710265 0.18 0.18 0.179 0.18111 0.3121 0.0099 0.2075 0.149 0.2474 0.32 0.01 0.22 0.14 0.2784 0.34 0 D 0.018 B 0.019 B . . . . 0.695 N 1.98 T -0.931 T 0.000 T 0.072 0.039 4.217 -0.042 -0.076 -0.483 4.400 0.039079 NA 0.64 0.336951 0.158408 NA 0.239 NA 7.4058824 919 2 17884495 17884495 C T exonic SMC6 NA nonsynonymous SNV SMC6:NM_024624:exon18:c.G2071A:p.A691T,SMC6:NM_001142286:exon19:c.G2071A:p.A691T exonic ENSG00000163029 NA nonsynonymous SNV ENSG00000163029:ENST00000351948:exon18:c.G2071A:p.A691T,ENSG00000163029:ENST00000448223:exon19:c.G2071A:p.A691T,ENSG00000163029:ENST00000381272:exon20:c.G2149A:p.A717T,ENSG00000163029:ENST00000446852:exon20:c.G2149A:p.A717T,ENSG00000163029:ENST00000402989:exon21:c.G2071A:p.A691T Score=412;Name=lod=63 NA 2p24.2 NA NA NA NA rs1065381 0.23 0.23 0.218 0.20647 0.3241 0.0119 0.2161 0.3548 0.0787 0.31 0.02 0.25 0.31 0.2702 0.33 0.52 T 0.0 B 0.003 B 0.051 N 0.968 P 0 N 1.57 T -0.916 T 0.000 T 0.015 0.981 9.006 1.55 0.371 0.736 4.267 0.981245 NA 0.15 0.333411 0.316757 NA 0.283 NA 7.4056224 919 5 33624430 33624430 A G exonic ADAMTS12 NA synonymous SNV ADAMTS12:NM_030955:exon14:c.T2049C:p.D683D exonic ENSG00000151388 NA synonymous SNV ENSG00000151388:ENST00000504830:exon14:c.T2049C:p.D683D Score=450;Name=lod=90 NA 5p13.3 Score=934;Name=V$CDPCR3HD_01 NA NA NA rs61748198 0.14 0.14 0.157 0.160743 0.0736 0.2669 0.1066 0.1445 0.2014 0.07 0.27 0.09 0.16 0.1095 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.246472 1.246472 NA 0.07814 0.124603 NA 0.174 NA 7.4054266 920 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 920 6 42532102 42532102 C T exonic UBR2 NA synonymous SNV UBR2:NM_001184801:exon1:c.C45T:p.S15S,UBR2:NM_015255:exon1:c.C45T:p.S15S exonic ENSG00000024048 NA synonymous SNV ENSG00000024048:ENST00000372899:exon1:c.C45T:p.S15S,ENSG00000024048:ENST00000372901:exon1:c.C45T:p.S15S,ENSG00000024048:ENST00000372903:exon1:c.C45T:p.S15S Score=594;Name=lod=345 NA 6p21.1 NA Name=HMGN3,Pol2-4H8,Pol2,ZNF263,Pol2(b),Egr-1,CCNT2,AP-2alpha,YY1,YY1_(C-20),c-Myc Name=148 NA rs3749897 0.46 0.46 0.444 0.467452 0.4046 0.4464 0.4179 0.5325 0.501 0.42 0.47 0.46 0.51 0.4451 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.903552 1.903552 NA 0.412093 0.504314 NA 0.435 NA 7.4048736 920 10 26310506 26310506 C T exonic MYO3A NA synonymous SNV MYO3A:NM_017433:exon8:c.C660T:p.A220A exonic ENSG00000095777 NA synonymous SNV ENSG00000095777:ENST00000543632:exon7:c.C660T:p.A220A,ENSG00000095777:ENST00000265944:exon8:c.C660T:p.A220A,ENSG00000095777:ENST00000376302:exon8:c.C660T:p.A220A Score=532;Name=lod=193 NA 10p12.1 NA NA NA NA rs34067308 0.05 0.05 0.04 0.0351438 0.0954 0.001 0.0504 0.0151 0.0245 0.09 NA 0.05 0.02 0.0679 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 0.753179 NA NA 0.099651 0.029959 NA 0.08 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039049.1;CLNDSDB=.;CLNDSDBID=. 7.4037156 920 2 25064157 25064157 G C exonic ADCY3 NA synonymous SNV ADCY3:NM_004036:exon5:c.C1167G:p.L389L exonic ENSG00000138031 NA synonymous SNV ENSG00000138031:ENST00000606682:exon2:c.C180G:p.L60L,ENSG00000138031:ENST00000427849:exon4:c.C435G:p.L145L,ENSG00000138031:ENST00000260600:exon5:c.C1167G:p.L389L,ENSG00000138031:ENST00000435135:exon5:c.C1017G:p.L339L Score=637;Name=lod=515 NA 2p23.3 NA NA NA Score=90;Name=1187838_0_-_90 rs2241758 0.09 0.09 0.061 0.0706869 0.0855 0.1012 0.2118 0.003 0.0153 0.08 0.09 0.2 0.01 0.1068 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.222581 NA NA 0.072427 0.01959 NA 0.116 NA 7.4019396 920 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 920 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 920 22 26166900 26166900 G C exonic MYO18B NA nonsynonymous SNV MYO18B:NM_032608:exon6:c.G1641C:p.W547C exonic ENSG00000133454 NA nonsynonymous SNV ENSG00000133454:ENST00000539302:exon5:c.G1641C:p.W547C,ENSG00000133454:ENST00000335473:exon6:c.G1641C:p.W547C,ENSG00000133454:ENST00000407587:exon6:c.G1641C:p.W547C,ENSG00000133454:ENST00000536101:exon6:c.G1641C:p.W547C Score=410;Name=lod=62 NA 22q12.1 Score=893;Name=V$CDPCR3HD_01 NA NA NA rs3859866 0.94 0.94 0.94 0.938498 0.9871 0.8869 0.9841 0.9523 0.8906 0.99 0.85 0.99 0.95 0.9579 0.99 0.14 T 0.0 B 0.0 B 0.003 N 0.087 P -1.995 N -0.56 T -0.952 T 0.000 T 0.165 -2.342 0.004 3.72 0.434 -0.260 5.685 -2.341963 NA 0.02 0.98651 0.960069 NA 0.942 NA 7.4018234 920 2 239040343 239040343 G A exonic ESPNL NA synonymous SNV ESPNL:NM_194312:exon9:c.G2988A:p.K996K exonic ENSG00000144488 NA synonymous SNV ENSG00000144488:ENST00000409506:exon4:c.G1884A:p.K628K,ENSG00000144488:ENST00000409169:exon8:c.G2856A:p.K952K,ENSG00000144488:ENST00000343063:exon9:c.G2988A:p.K996K Score=523;Name=lod=178 NA 2q37.3 NA NA Name=2 NA rs73102311 0.07 0.07 0.063 0.0856629 0.0915 0.0546 0.062 0.0923 0.1196 0.09 0.07 0.07 0.07 0.0853 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 0.761086 NA NA 0.088721 0.086058 NA 0.065 NA 7.4011456 920 3 13399786 13399786 G A exonic NUP210 NA nonsynonymous SNV NUP210:NM_024923:exon16:c.C2264T:p.A755V exonic ENSG00000132182 NA nonsynonymous SNV ENSG00000132182:ENST00000254508:exon16:c.C2264T:p.A755V NA NA 3p25.1 NA NA NA NA rs6795271 0.21 0.21 0.208 0.18131 0.325 0.0139 0.2104 0.2269 0.1237 0.31 0.02 0.26 0.24 0.2616 0.35 1 T 0.002 B 0.001 B 0.169 N 1.000 P -0.69 N 2.33 T -0.943 T 0.000 T 0.026 -0.221 2.929 -1.59 -0.784 1.087 10.261 -0.22139 NA 0.46 0.345698 0.240808 NA 0.457 NA 7.4010354 920 5 176831826 176831826 C G exonic F12 NA nonsynonymous SNV F12:NM_000505:exon7:c.G619C:p.A207P exonic ENSG00000131187 NA nonsynonymous SNV ENSG00000131187:ENST00000253496:exon7:c.G619C:p.A207P NA NA 5q35.3 NA Name=ZNF263 NA NA rs17876030 0.95 0.95 0.958 0.939497 0.9891 0.8849 0.8833 0.9652 0.9499 0.99 0.9 0.91 0.96 0.9577 0.99 0.4 T 0.0 B 0.0 B 0.995 N 1.000 P -0.165 N -2.97 D -0.970 T 0.000 T 0.041 -0.605 1.301 2.08 0.264 0.249 1.726 -0.604838 NA 0.23 0.985571 0.959945 ID=COSM449394;OCCURENCE=1(breast) 0.993 NA 7.4009624 920 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=HDAC2_(SC-6296),MafK_(ab50322),FOSL2,Pol2,NF-YA,HEY1,TAF1,c-Jun,RFX5_(N-494),eGFP-JunD,FOSL1_(SC-183),TCF4,MafF_(M8194),JunD,TBP,eGFP-FOS,c-Fos,NF-YB 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 920 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 920 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 920 2 99812070 99812070 G A exonic MRPL30 NA nonsynonymous SNV MRPL30:NM_145212:exon6:c.G388A:p.A130T exonic ENSG00000185414,ENSG00000241962 NA nonsynonymous SNV ENSG00000185414:ENST00000409841:exon5:c.G388A:p.A130T,ENSG00000185414:ENST00000338148:exon6:c.G388A:p.A130T,ENSG00000241962:ENST00000512183:exon6:c.G388A:p.A130T,ENSG00000241962:ENST00000424491:exon9:c.G478A:p.A160T Score=466;Name=lod=104 NA 2q11.2 NA NA NA NA rs1044575 0.66 0.66 0.662 0.64397 0.6481 0.869 0.647 0.4871 0.6176 0.62 0.88 0.65 0.49 0.6366 0.88 1 T 0.0 B 0.0 B 0.000 N 0.002 P -0.715 N 1.15 T -1.002 T 0.000 T 0.009 -0.372 2.248 -2.19 -0.764 -0.370 6.003 -0.372119 NA 1 0.650698 0.54108 ID=COSM1130704;OCCURENCE=1(prostate) 0.696 NA 7.3979354 920 3 52544470 52544470 A G exonic STAB1 NA nonsynonymous SNV STAB1:NM_015136:exon25:c.A2734G:p.M912V exonic ENSG00000010327 NA nonsynonymous SNV ENSG00000010327:ENST00000321725:exon25:c.A2734G:p.M912V NA NA 3p21.1 NA NA NA NA rs9835659 0.99 0.99 0.986 0.991414 0.9742 1 0.9885 0.9992 0.9918 0.97 1 0.98 1 0.9839 1 0.38 T 0.0 B 0.0 B 0.119 N 1.000 P 0 N -1.79 D -0.959 T 0.000 T 0.027 0.178 4.959 -5.18 -1.237 0.375 12.820 0.178223 NA 0.32 0.977674 0.995461 NA 0.986 NA 7.3975594 920 10 26310470 26310470 C T exonic MYO3A NA synonymous SNV MYO3A:NM_017433:exon8:c.C624T:p.D208D exonic ENSG00000095777 NA synonymous SNV ENSG00000095777:ENST00000543632:exon7:c.C624T:p.D208D,ENSG00000095777:ENST00000265944:exon8:c.C624T:p.D208D,ENSG00000095777:ENST00000376302:exon8:c.C624T:p.D208D Score=535;Name=lod=199 NA 10p12.1 NA NA NA NA rs35010955 0.06 0.06 0.055 0.0485224 0.0974 0.001 0.0533 0.0628 0.0245 0.09 NA 0.06 0.06 0.0715 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 1.221836 NA NA 0.100233 0.0665 NA 0.094 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039047.1;CLNDSDB=.;CLNDSDBID=. 7.3975336 920 2 209190519 209190519 A T exonic PIKFYVE NA nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.A2984T:p.Q995L exonic ENSG00000115020 NA nonsynonymous SNV ENSG00000115020:ENST00000452564:exon19:c.A2816T:p.Q939L,ENSG00000115020:ENST00000264380:exon20:c.A2984T:p.Q995L Score=272;Name=lod=17 NA 2q34 NA NA NA NA rs893254 0.91 0.91 0.916 0.911542 0.995 0.9395 0.9769 0.789 0.9162 0.98 0.92 0.94 0.78 0.9597 0.98 0.3 T 0.011 B 0.014 B 0.011 N 0.000 P 1.1 L 1.8 T -1.006 T 0.000 T 0.177 0.648 7.477 4.24 1.101 0.816 12.604 0.647806 NA 0.11 0.981628 0.806627 NA 0.913 NA 7.3970054 920 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 920 1 38187453 38187453 G A exonic EPHA10 NA synonymous SNV EPHA10:NM_001099439:exon11:c.C2025T:p.A675A exonic ENSG00000183317 NA synonymous SNV ENSG00000183317:ENST00000534097:exon5:c.C525T:p.A175A,ENSG00000183317:ENST00000330210:exon7:c.C510T:p.A170A,ENSG00000183317:ENST00000373048:exon11:c.C2025T:p.A675A,ENSG00000183317:ENST00000427468:exon11:c.C2025T:p.A675A Score=446;Name=lod=87 NA 1p34.3 NA NA Name=5 NA rs33970734 0.06 0.06 0.054 0.0447284 0.1083 0.0278 0.0447 0.0174 0.0337 0.1 0.02 0.05 0.03 0.0704 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 0.515898 NA NA 0.092433 0.032401 NA 0.109 NA 7.3955336 920 7 20421490 20421490 T C exonic ITGB8 NA synonymous SNV ITGB8:NM_002214:exon6:c.T942C:p.Y314Y exonic ENSG00000105855 NA synonymous SNV ENSG00000105855:ENST00000222573:exon6:c.T942C:p.Y314Y,ENSG00000105855:ENST00000537992:exon7:c.T537C:p.Y179Y Score=525;Name=lod=181 NA 7p21.1 Score=880;Name=V$CDC5_01 NA Name=2 NA rs2230398 0.39 0.39 0.383 0.336861 0.4493 0.4097 0.2579 0.3336 0.2065 0.46 0.41 0.29 0.32 0.3882 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.937037 NA NA 0.43407 0.360645 ID=COSM150245;OCCURENCE=1(stomach) 0.275 NA 7.3950966 921 9 139749067 139749067 C T exonic MAMDC4 NA synonymous SNV MAMDC4:NM_206920:exon8:c.C873T:p.R291R exonic ENSG00000177943 NA synonymous SNV ENSG00000177943:ENST00000317446:exon8:c.C873T:p.R291R,ENSG00000177943:ENST00000445819:exon8:c.C873T:p.R291R NA NA 9q34.3 NA NA NA NA rs7869864 0.79 0.79 0.812 0.788339 0.7584 0.875 0.5605 0.885 0.7607 0.76 0.88 0.6 0.87 0.7636 0.88 0.03 D . . . . 0.021 N 0.999 P . . . . -1.016 T 0.000 T . 0.565 7.055 -2.05 -0.295 -1.529 10.025 0.565172 NA NA 0.75 0.854654 NA 0.884 NA 7.3946666 921 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 921 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 921 1 38185647 38185647 G A exonic EPHA10 NA synonymous SNV EPHA10:NM_001099439:exon14:c.C2496T:p.F832F exonic ENSG00000183317 NA synonymous SNV ENSG00000183317:ENST00000534097:exon8:c.C996T:p.F332F,ENSG00000183317:ENST00000330210:exon10:c.C981T:p.F327F,ENSG00000183317:ENST00000373048:exon14:c.C2496T:p.F832F,ENSG00000183317:ENST00000427468:exon14:c.C2496T:p.F832F Score=576;Name=lod=293 NA 1p34.3 NA NA Name=7 NA rs2170809 0.06 0.06 0.065 0.0555112 0.1083 0.0278 0.0476 0.0567 0.0337 0.1 0.02 0.06 0.06 0.0694 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 -0.161817 NA NA 0.095581 0.066046 NA 0.116 NA 7.3933856 921 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 921 8 21984945 21984945 C T exonic HR NA nonsynonymous SNV HR:NM_005144:exon3:c.G1010A:p.G337D,HR:NM_018411:exon3:c.G1010A:p.G337D exonic ENSG00000168453 NA nonsynonymous SNV ENSG00000168453:ENST00000312841:exon3:c.G1010A:p.G337D,ENSG00000168453:ENST00000381418:exon3:c.G1010A:p.G337D NA NA 8p21.3 Score=807;Name=V$HNF4_01 NA NA NA rs12675375 0.27 0.27 0.252 0.296326 0.2952 0.372 0.2118 0.1884 0.4254 0.28 0.38 0.23 0.13 0.3205 0.38 0.98 T 0.011 B 0.011 B 0.321 N 1.000 P 0.55 N -0.45 T -1.006 T 0.000 T 0.05 0.636 7.416 1.65 0.009 0.573 4.601 0.63578 NA 0.67 0.324419 0.195277 ID=COSM454303;OCCURENCE=1(breast) 0.304 NA 7.3932144 921 1 176863842 176863842 C T exonic ASTN1 NA synonymous SNV ASTN1:NM_004319:exon17:c.G2796A:p.E932E,ASTN1:NM_207108:exon17:c.G2796A:p.E932E exonic ENSG00000152092 NA synonymous SNV ENSG00000152092:ENST00000361833:exon17:c.G2796A:p.E932E,ENSG00000152092:ENST00000367654:exon17:c.G2820A:p.E940E,ENSG00000152092:ENST00000367657:exon17:c.G2796A:p.E932E,ENSG00000152092:ENST00000424564:exon17:c.G2796A:p.E932E Score=530;Name=lod=190 NA 1q25.2 Score=853;Name=V$P300_01 NA NA NA rs6680908 0.09 0.09 0.079 0.0816693 0.1113 0.0298 0.072 0.1498 0.0194 0.1 0.02 0.11 0.14 0.0749 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.021552 NA NA 0.087326 0.157512 NA 0.051 NA 7.3931406 921 17 30533970 30533970 A G exonic RHOT1 NA synonymous SNV RHOT1:NM_001033566:exon17:c.A1458G:p.E486E,RHOT1:NM_001033568:exon17:c.A1458G:p.E486E,RHOT1:NM_018307:exon17:c.A1458G:p.E486E exonic ENSG00000126858 NA nonsynonymous SNV ENSG00000126858:ENST00000584692:exon1:c.A2G:p.K1R Score=570;Name=lod=276 NA 17q11.2 NA NA Name=45 NA rs16967164 0.29 0.29 0.337 0.323882 0.1948 0.2242 0.2334 0.5764 0.2822 0.19 0.22 0.22 0.59 0.233 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.667282 1.667282 NA 0.17907 0.504085 ID=COSM1128764;OCCURENCE=1(prostate) 0.362 NA 7.39313 921 22 43576880 43576880 C A exonic TTLL12 NA synonymous SNV TTLL12:NM_015140:exon3:c.G414T:p.V138V exonic ENSG00000100304 NA synonymous SNV ENSG00000100304:ENST00000216129:exon3:c.G414T:p.V138V Score=492;Name=lod=133 NA 22q13.2 Score=735;Name=V$MYOGNF1_01 NA NA NA rs11090144 0.06 0.06 0.055 0.048123 0.0905 0.001 0.0692 0.0522 0.0327 0.08 NA 0.08 0.07 0.0771 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.446721 1.446721 NA 0.106163 0.072401 NA 0.058 NA 7.3929036 921 19 24310032 24310032 A T exonic ZNF254 NA nonsynonymous SNV ZNF254:NM_203282:exon4:c.A1230T:p.E410D exonic ENSG00000213096 NA nonsynonymous SNV ENSG00000213096:ENST00000342944:exon3:c.A975T:p.E325D,ENSG00000213096:ENST00000357002:exon4:c.A1230T:p.E410D NA NA 19p12 NA NA NA NA rs61737180 0.14 0.14 0.139 0.146565 0.1441 0.1677 0.0965 0.1543 0.1524 0.15 0.15 0.1 0.16 0.1493 0.16 0.08 T 0.696 P 0.133 B . . 0.000 P 1.67 L 3.18 T -0.962 T 0.000 T 0.117 0.313 5.698 -0.105 0.441 -0.265 4.062 0.313254 NA 0.09 0.14814 0.153043 ID=COSM290972;OCCURENCE=1(large_intestine) 0.109 NA 7.3917934 921 19 17759289 17759289 G C exonic UNC13A NA synonymous SNV UNC13A:NM_001080421:exon15:c.C1767G:p.V589V exonic ENSG00000130477 NA synonymous SNV ENSG00000130477:ENST00000550896:exon15:c.C1761G:p.V587V,ENSG00000130477:ENST00000252773:exon16:c.C1767G:p.V589V,ENSG00000130477:ENST00000519716:exon16:c.C1767G:p.V589V,ENSG00000130477:ENST00000551649:exon16:c.C1767G:p.V589V,ENSG00000130477:ENST00000552293:exon16:c.C1767G:p.V589V,ENSG00000130477:ENST00000428389:exon17:c.C2031G:p.V677V Score=591;Name=lod=336 NA 19p13.11 Score=973;Name=V$NKX25_01 NA NA NA rs73922174 0.09 0.09 0.095 0.0894569 0.0964 NA 0.0591 0.2209 0.0184 0.1 NA 0.04 0.23 0.0906 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.37702 1.37702 NA 0.087907 0.181653 NA 0.094 NA 7.3917596 921 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 921 11 65547333 65547333 G A exonic AP5B1 NA nonsynonymous SNV AP5B1:NM_138368:exon2:c.C631T:p.L211F exonic ENSG00000254470 NA nonsynonymous SNV ENSG00000254470:ENST00000532090:exon2:c.C631T:p.L211F Score=278;Name=lod=18 NA 11q13.1 NA Name=CEBPB NA NA rs12146493 0.35 0.35 0.373 0.303714 0.3231 0.3413 0.2363 0.4576 0.0849 0.32 0.35 0.27 0.46 0.2991 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.054059 2.054059 NA 0.320097 0.414278 ID=COSM1475762,COSM1475761;OCCURENCE=1(breast) 0.326 NA 7.3910364 921 22 37531436 37531436 G A exonic IL2RB NA synonymous SNV IL2RB:NM_000878:exon8:c.C750T:p.G250G exonic ENSG00000100385 NA synonymous SNV ENSG00000100385:ENST00000216223:exon8:c.C750T:p.G250G NA NA 22q12.3 NA NA NA NA rs228953 0.42 0.42 0.387 0.411142 0.4235 0.3929 0.428 0.413 0.4029 0.42 0.45 0.43 0.38 0.4202 0.45 . . . . . . . . 1.000 P . . . . -0.888 T 0.000 T . 0.02 4.119 2.94 2.211 0.230 6.799 0.020364 NA NA 0.431977 0.406264 NA 0.312 NA 7.3909896 921 17 20107773 20107773 T C exonic SPECC1 NA synonymous SNV SPECC1:NM_001033554:exon2:c.T168C:p.S56S,SPECC1:NM_001033555:exon2:c.T168C:p.S56S,SPECC1:NM_001243438:exon2:c.T168C:p.S56S,SPECC1:NM_001033553:exon4:c.T411C:p.S137S,SPECC1:NM_001243439:exon4:c.T411C:p.S137S,SPECC1:NM_152904:exon4:c.T411C:p.S137S exonic ENSG00000128487 NA synonymous SNV ENSG00000128487:ENST00000395522:exon2:c.T168C:p.S56S,ENSG00000128487:ENST00000395525:exon2:c.T168C:p.S56S,ENSG00000128487:ENST00000395530:exon2:c.T168C:p.S56S,ENSG00000128487:ENST00000261503:exon4:c.T411C:p.S137S,ENSG00000128487:ENST00000395527:exon4:c.T411C:p.S137S,ENSG00000128487:ENST00000395529:exon4:c.T411C:p.S137S Score=481;Name=lod=120 NA 17p11.2 Score=739;Name=V$PAX4_04 Name=STAT1 NA NA rs2703805 0.52 0.52 0.511 0.539936 0.3996 0.7937 0.4741 0.4062 0.6503 0.42 0.8 0.49 0.4 0.4782 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 0.31319 NA NA 0.397907 0.398774 NA 0.406 NA 7.3909596 921 3 52510592 52510592 G A exonic NISCH NA nonsynonymous SNV NISCH:NM_001276293:exon8:c.G895A:p.V299I,NISCH:NM_001276294:exon8:c.G895A:p.V299I,NISCH:NM_007184:exon8:c.G895A:p.V299I exonic ENSG00000010322 NA nonsynonymous SNV ENSG00000010322:ENST00000345716:exon8:c.G895A:p.V299I,ENSG00000010322:ENST00000420808:exon8:c.G895A:p.V299I,ENSG00000010322:ENST00000488380:exon8:c.G895A:p.V299I,ENSG00000010322:ENST00000479054:exon9:c.G895A:p.V299I Score=527;Name=lod=185 NA 3p21.1 NA NA NA NA rs9856575 0.99 0.99 0.99 0.99361 0.9791 1 0.9899 1 0.9959 0.98 1 0.98 1 0.9859 1 1 T 0.004 B 0.001 B 0.000 N 1.000 P -1.585 N 2.35 T -0.963 T 0.000 T 0.147 0.435 6.362 3.2 0.094 5.751 6.274 0.434912 NA 1 0.979302 0.995688 NA 0.993 NA 7.3890314 921 12 56722060 56722060 T G exonic PAN2 NA nonsynonymous SNV PAN2:NM_001127460:exon4:c.A535C:p.I179L,PAN2:NM_001166279:exon4:c.A535C:p.I179L,PAN2:NM_014871:exon4:c.A535C:p.I179L exonic ENSG00000135473 NA nonsynonymous SNV ENSG00000135473:ENST00000547572:exon3:c.A118C:p.I40L,ENSG00000135473:ENST00000257931:exon4:c.A535C:p.I179L,ENSG00000135473:ENST00000425394:exon4:c.A535C:p.I179L,ENSG00000135473:ENST00000440411:exon4:c.A535C:p.I179L,ENSG00000135473:ENST00000548043:exon4:c.A535C:p.I179L NA NA 12q13.3 NA NA NA NA rs1918496 0.86 0.86 0.836 0.835863 0.998 1 0.9409 0.4107 1 1 1 0.95 0.44 0.9502 1 0.62 T 0.001 B 0.005 B 0.083 N 1.000 P 1.65 L 0.02 T -0.975 T 0.000 T 0.269 0.873 8.54 -8.8 -2.435 -2.654 5.435 0.873098 NA 0.39 0.996163 0.494326 NA 0.804 NA 7.3889704 921 6 41162518 41162518 T C exonic TREML2 NA nonsynonymous SNV TREML2:NM_024807:exon3:c.A430G:p.S144G exonic ENSG00000112195 NA nonsynonymous SNV ENSG00000112195:ENST00000483722:exon3:c.A430G:p.S144G NA NA 6p21.1 NA NA NA NA rs3747742 0.31 0.31 0.293 0.313698 0.3141 0.3581 0.3689 0.211 0.3671 0.32 0.35 0.36 0.24 0.3261 0.36 0.14 T 0.002 B 0.002 B 0.145 N 1.000 P 1.845 L 3.25 T -0.976 T 0.007 T 0.015 1.454 10.81 -2.17 -0.433 -0.094 4.490 1.454471 1.454471 0.26 0.304419 0.226055 NA 0.297 NA 7.3887144 921 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 921 9 140002989 140002989 T C exonic MAN1B1 NA synonymous SNV MAN1B1:NM_016219:exon13:c.T2046C:p.D682D exonic ENSG00000177239 NA synonymous SNV ENSG00000177239:ENST00000474902:exon11:c.T1155C:p.D385D,ENSG00000177239:ENST00000371589:exon13:c.T2046C:p.D682D Score=407;Name=lod=60 NA 9q34.3 NA NA NA NA rs4880091 0.79 0.79 0.797 0.809904 0.7565 0.6984 0.7493 0.9879 0.7822 0.75 0.7 0.78 0.98 0.7663 0.98 . . . . . . . . 0.000 P . . . . -1.002 T 0.000 T . 0.228 5.232 1.54 -0.431 1.073 12.271 0.22838 NA NA 0.755465 0.943486 NA 0.884 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117585.2;CLNDSDB=.;CLNDSDBID=. 7.3884016 921 19 9057750 9057750 T A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A29696T:p.Y9899F exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A29696T:p.Y9899F NA NA 19p13.2 NA NA NA NA rs12982113 0.22 0.22 0.213 0.21865 0.3121 0.0258 0.2896 0.2352 0.2485 0.32 0.02 0.28 0.25 0.2936 0.34 0 D 0.0 B 0.0 B . . . . 0.345 N 4.22 T -0.909 T 0.000 T 0.029 0.241 5.303 -1.0 -0.471 -0.375 2.355 0.241363 NA 0.69 0.33985 0.235234 NA 0.254 NA 7.3877834 921 15 101113862 101113862 C T exonic LINS NA nonsynonymous SNV LINS:NM_001040616:exon5:c.G1216A:p.V406M exonic ENSG00000140471 NA nonsynonymous SNV ENSG00000140471:ENST00000314742:exon5:c.G1216A:p.V406M,ENSG00000140471:ENST00000560133:exon5:c.G859A:p.V287M,ENSG00000140471:ENST00000561308:exon5:c.G1216A:p.V406M Score=393;Name=lod=53 NA 15q26.3 NA NA NA NA rs12719734 0.9 0.9 0.893 0.895168 0.999 0.6339 0.9654 0.9448 0.9407 1 0.63 0.98 0.98 0.9542 1 0.79 T 0.0 B 0.001 B 0.113 N 1.000 P -1.23 N 1.92 T -0.968 T 0.000 T 0.093 -0.992 0.272 4.86 0.521 2.092 10.331 -0.992088 NA 0.76 0.993372 0.954834 NA 0.964 NA 7.3867614 921 12 52579294 52579294 G A exonic KRT80 NA synonymous SNV KRT80:NM_001081492:exon2:c.C378T:p.F126F,KRT80:NM_182507:exon2:c.C378T:p.F126F exonic ENSG00000167767 NA synonymous SNV ENSG00000167767:ENST00000313234:exon2:c.C378T:p.F126F,ENSG00000167767:ENST00000394815:exon2:c.C378T:p.F126F NA NA 12q13.13 Score=768;Name=V$PPARG_01 NA Name=4 NA rs17704675 0.07 0.07 0.054 0.0495208 0.1083 NA 0.0648 0.0666 0.0061 0.11 NA 0.09 0.06 0.0722 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 -0.961609 NA NA 0.100116 0.079664 NA 0.065 NA 7.3860506 921 19 44500761 44500761 G A exonic ZNF155 NA nonsynonymous SNV ZNF155:NM_001260486:exon5:c.G752A:p.R251H,ZNF155:NM_001260487:exon5:c.G752A:p.R251H,ZNF155:NM_003445:exon5:c.G752A:p.R251H,ZNF155:NM_198089:exon5:c.G752A:p.R251H,ZNF155:NM_001260488:exon6:c.G785A:p.R262H exonic ENSG00000204920 NA nonsynonymous SNV ENSG00000204920:ENST00000270014:exon5:c.G752A:p.R251H,ENSG00000204920:ENST00000590615:exon5:c.G752A:p.R251H,ENSG00000204920:ENST00000407951:exon6:c.G785A:p.R262H NA NA 19q13.31 NA NA NA NA rs448921 0.91 0.91 0.898 0.897364 0.993 0.9861 0.9669 0.6596 0.9796 0.99 0.99 0.96 0.67 0.9625 0.99 0.16 T 0.001 B 0.002 B . . 1.000 P 0.895 L 2.21 T -1.054 T 0.000 T 0.02 -0.061 3.703 -5.18 -2.367 -2.884 6.574 -0.06104 NA 0.63 0.99186 0.705175 NA 0.913 NA 7.3859734 921 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 922 21 45717550 45717550 T C exonic AIRE NA synonymous SNV AIRE:NM_000383:exon14:c.T1578C:p.D526D exonic ENSG00000160224 NA synonymous SNV ENSG00000160224:ENST00000355347:exon8:c.T957C:p.D319D,ENSG00000160224:ENST00000291582:exon14:c.T1578C:p.D526D Score=564;Name=lod=261 NA 21q22.3 NA Name=ZNF263 NA NA rs1133779 0.54 0.54 0.524 0.530351 0.4056 0.6369 0.4841 0.6694 0.3937 0.41 0.63 0.49 0.69 0.4611 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 0.705211 NA NA 0.41527 0.648661 ID=COSM329123;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.659 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116300.2;CLNDSDB=.;CLNDSDBID=. 7.3846966 922 X 2777985 2777985 C T exonic GYG2 NA nonsynonymous SNV GYG2:NM_001184704:exon6:c.C251T:p.A84V,GYG2:NM_001079855:exon7:c.C716T:p.A239V,GYG2:NM_001184702:exon7:c.C716T:p.A239V,GYG2:NM_001184703:exon8:c.C809T:p.A270V,GYG2:NM_003918:exon8:c.C809T:p.A270V exonic ENSG00000056998 NA nonsynonymous SNV ENSG00000056998:ENST00000398806:exon7:c.C716T:p.A239V,ENSG00000056998:ENST00000338623:exon8:c.C809T:p.A270V,ENSG00000056998:ENST00000381163:exon8:c.C809T:p.A270V,ENSG00000056998:ENST00000542787:exon8:c.C809T:p.A270V NA NA Xp22.33 NA NA NA NA rs2306734 0.63 0.63 0.64626 NA NA NA NA NA NA 0.71 0.82 0.62 0.31 0.7016 0.82 0.33 T 0.798 P 0.145 B 0.040 N 1.000 P 0.55 N -0.04 T -0.945 T 0.000 T 0.262 0.758 8.011 -2.74 -0.334 -0.439 6.780 0.757544 NA 0.29 0.74829 0.361147 NA 0.428 NA 7.3834434 922 8 72211295 72211295 T C exonic EYA1 NA synonymous SNV EYA1:NM_172060:exon7:c.A714G:p.T238T,EYA1:NM_172058:exon8:c.A813G:p.T271T,EYA1:NM_172059:exon8:c.A798G:p.T266T,EYA1:NM_000503:exon9:c.A813G:p.T271T exonic ENSG00000104313 NA synonymous SNV ENSG00000104313:ENST00000388740:exon7:c.A714G:p.T238T,ENSG00000104313:ENST00000388741:exon8:c.A711G:p.T237T,ENSG00000104313:ENST00000388742:exon8:c.A813G:p.T271T,ENSG00000104313:ENST00000388743:exon8:c.A810G:p.T270T,ENSG00000104313:ENST00000419131:exon8:c.A798G:p.T266T,ENSG00000104313:ENST00000303824:exon9:c.A795G:p.T265T,ENSG00000104313:ENST00000340726:exon9:c.A813G:p.T271T Score=600;Name=lod=365 NA 8q13.3 NA NA NA NA rs1445398 0.18 0.18 0.157 0.159345 0.0765 0.4425 0.2061 0.0212 0.1063 0.09 0.44 0.18 0.03 0.1226 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.488547 1.488547 NA 0.084419 0.03813 NA 0.167 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041395.1;CLNDSDB=.;CLNDSDBID=. 7.3831476 922 12 113376388 113376388 G A exonic OAS3 NA nonsynonymous SNV OAS3:NM_006187:exon1:c.G53A:p.R18K exonic ENSG00000111331 NA nonsynonymous SNV ENSG00000111331:ENST00000228928:exon1:c.G53A:p.R18K,ENSG00000111331:ENST00000548514:exon1:c.G53A:p.R18K,ENSG00000111331:ENST00000551007:exon1:c.G53A:p.R18K NA NA 12q24.13 NA Name=E2F6,Pol2,HA-E2F1,HMGN3,E2F4,YY1_(C-20),SUZ12 Name=141 NA rs1859330 0.68 0.68 0.648 0.663139 0.6302 0.749 0.7219 0.5537 0.7147 0.64 0.79 0.7 0.62 0.6862 0.79 0.13 T 0.296 B 0.069 B . . 1.000 P 1.355 L 3.12 T -1.077 T 0.000 T 0.068 2.017 12.7 -1.2 -0.125 -0.030 3.296 2.016575 2.016575 0.2 0.636044 0.592157 NA 0.572 NA 7.3808894 922 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=TAL1_(SC-12984),ZBTB7A_(SC-34508) 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 922 22 36598058 36598058 T C exonic APOL4 NA unknown UNKNOWN exonic ENSG00000100336 NA nonsynonymous SNV ENSG00000100336:ENST00000352371:exon2:c.A25G:p.I9V,ENSG00000100336:ENST00000404685:exon2:c.A25G:p.I9V NA NA 22q12.3 NA Name=STAT1,E2F6_(H-50),STAT2 Name=53 NA rs132736 0.6 0.6 0.56 0.621206 0.4125 0.9038 0.4755 0.6891 0.5562 0.41 0.89 0.5 0.65 0.481 0.89 1 T 0.0 B 0.0 B 0.023 N 1.000 P . . 3.95 T -0.972 T 0.000 T 0.013 -2.135 0.005 -0.9 -0.875 -0.362 3.552 -2.135278 NA 1 0.394535 0.634816 NA 0.601 NA 7.3786317 922 7 94539536 94539536 C T exonic PPP1R9A NA synonymous SNV PPP1R9A:NM_001166161:exon1:c.C111T:p.P37P,PPP1R9A:NM_001166162:exon1:c.C111T:p.P37P,PPP1R9A:NM_001166163:exon1:c.C111T:p.P37P,PPP1R9A:NM_001166160:exon2:c.C111T:p.P37P,PPP1R9A:NM_017650:exon2:c.C111T:p.P37P exonic ENSG00000158528 NA synonymous SNV ENSG00000158528:ENST00000289495:exon1:c.C111T:p.P37P,ENSG00000158528:ENST00000456331:exon1:c.C111T:p.P37P,ENSG00000158528:ENST00000340694:exon2:c.C111T:p.P37P,ENSG00000158528:ENST00000413325:exon2:c.C111T:p.P37P,ENSG00000158528:ENST00000422324:exon2:c.C111T:p.P37P,ENSG00000158528:ENST00000424654:exon2:c.C111T:p.P37P,ENSG00000158528:ENST00000433360:exon2:c.C111T:p.P37P,ENSG00000158528:ENST00000433881:exon2:c.C111T:p.P37P Score=675;Name=lod=736 NA 7q21.3 Score=968;Name=V$PAX2_02 NA NA NA rs12536183 0.11 0.11 0.095 0.109625 0.0964 0.1448 0.2248 0.0182 0.1288 0.09 0.15 0.18 0.02 0.1067 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.404261 NA NA 0.085 0.034952 NA 0.159 NA 7.3785666 922 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 922 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 922 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 922 1 23763449 23763449 G A exonic ASAP3 NA synonymous SNV ASAP3:NM_001143778:exon14:c.C1404T:p.R468R,ASAP3:NM_017707:exon15:c.C1431T:p.R477R exonic ENSG00000088280 NA synonymous SNV ENSG00000088280:ENST00000437606:exon14:c.C1404T:p.R468R,ENSG00000088280:ENST00000336689:exon15:c.C1431T:p.R477R Score=587;Name=lod=324 NA 1p36.12 NA Name=USF-1 NA NA rs115515935 0.05 0.05 0.047 0.0499201 0.1044 NA 0.0605 0.0121 0.089 0.11 NA 0.07 0.01 0.0884 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 1.688094 1.688094 NA 0.097836 0.026794 NA 0.036 NA 7.3760306 922 4 7716910 7716910 C T exonic SORCS2 NA synonymous SNV SORCS2:NM_020777:exon17:c.C2124T:p.C708C exonic ENSG00000184985 NA synonymous SNV ENSG00000184985:ENST00000329016:exon17:c.C1608T:p.C536C,ENSG00000184985:ENST00000507866:exon17:c.C2124T:p.C708C Score=455;Name=lod=94 NA 4p16.1 Score=764;Name=V$LUN1_01 NA NA NA rs28531835 0.14 0.14 0.137 0.165735 0.0934 0.1667 0.0893 0.2579 0.1687 0.09 0.15 0.11 0.22 0.1108 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.887294 NA NA 0.086455 0.218595 ID=COSM1431099;OCCURENCE=1(large_intestine) 0.094 NA 7.3760116 922 12 10137557 10137557 A C exonic CLEC12A NA nonsynonymous SNV CLEC12A:NM_201623:exon5:c.A631C:p.K211Q,CLEC12A:NM_138337:exon6:c.A730C:p.K244Q,CLEC12A:NM_001207010:exon7:c.A760C:p.K254Q exonic ENSG00000172322 NA nonsynonymous SNV ENSG00000172322:ENST00000350667:exon5:c.A631C:p.K211Q,ENSG00000172322:ENST00000304361:exon6:c.A730C:p.K244Q,ENSG00000172322:ENST00000355690:exon7:c.A760C:p.K254Q NA NA 12p13.2 NA NA NA NA rs479499 0.71 0.71 0.701 0.73742 0.5994 0.8998 0.6686 0.6687 0.8538 0.61 0.91 0.67 0.66 0.7233 0.91 0.29 T 0.112 B 0.032 B . . 1.000 P 1.01 L 2.24 T -1.072 T 0.000 T 0.042 0.191 5.029 -8.09 -2.272 -0.293 8.057 0.191087 NA 0.39 0.63471 0.644658 NA 0.645 NA 7.3759234 922 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 922 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 922 11 10655609 10655609 C T exonic MRVI1 NA nonsynonymous SNV MRVI1:NM_001098579:exon2:c.G208A:p.A70T,MRVI1:NM_001206880:exon3:c.G235A:p.A79T,MRVI1:NM_130385:exon3:c.G235A:p.A79T exonic ENSG00000072952 NA nonsynonymous SNV ENSG00000072952:ENST00000421747:exon2:c.G208A:p.A70T,ENSG00000072952:ENST00000436272:exon2:c.G208A:p.A70T,ENSG00000072952:ENST00000529448:exon2:c.G77A:p.C26Y,ENSG00000072952:ENST00000531107:exon2:c.G208A:p.A70T,ENSG00000072952:ENST00000423302:exon3:c.G235A:p.A79T,ENSG00000072952:ENST00000526414:exon3:c.G82A:p.A28T,ENSG00000072952:ENST00000541483:exon3:c.G235A:p.A79T,ENSG00000072952:ENST00000529547:exon4:c.G79A:p.A27T NA NA 11p15.4 NA NA NA NA rs2162044 0.97 0.97 0.966 0.96905 0.994 1 0.9928 0.8956 0.9939 0.99 1 0.99 0.89 0.978 1 0.97 T 0.0 B 0.0 B 0.711 N 1.000 P -0.805 N 3.15 T -0.997 T 0.000 T 0.059 -0.206 2.999 -6.49 -1.666 -1.014 4.448 -0.206386 NA 1 0.985939 0.914353 NA 0.906 NA 7.3753944 922 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 923 14 23855320 23855320 G A exonic MYH6 NA synonymous SNV MYH6:NM_002471:exon34:c.C4980T:p.D1660D exonic ENSG00000197616 NA synonymous SNV ENSG00000197616:ENST00000356287:exon33:c.C4980T:p.D1660D,ENSG00000197616:ENST00000405093:exon34:c.C4980T:p.D1660D Score=493;Name=lod=134 NA 14q11.2 NA NA NA NA rs382872 0.05 0.05 0.05 0.0365415 0.1014 0.001 0.0389 0.0212 0.0256 0.11 NA 0.04 0.04 0.075 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 -0.907099 NA NA 0.11593 0.032456 NA 0.043 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037524.1;CLNDSDB=.;CLNDSDBID=. 7.3743366 923 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 923 17 48703752 48703752 T C exonic CACNA1G NA synonymous SNV CACNA1G:NM_198387:exon34:c.T6393C:p.P2131P,CACNA1G:NM_198388:exon34:c.T6372C:p.P2124P,CACNA1G:NM_001256328:exon35:c.T6420C:p.P2140P,CACNA1G:NM_001256330:exon35:c.T6360C:p.P2120P,CACNA1G:NM_001256331:exon35:c.T6339C:p.P2113P,CACNA1G:NM_001256332:exon35:c.T6324C:p.P2108P,CACNA1G:NM_001256360:exon35:c.T6387C:p.P2129P,CACNA1G:NM_001256361:exon35:c.T6381C:p.P2127P,CACNA1G:NM_198376:exon35:c.T6156C:p.P2052P,CACNA1G:NM_198378:exon35:c.T6462C:p.P2154P,CACNA1G:NM_198379:exon35:c.T6537C:p.P2179P,CACNA1G:NM_198382:exon35:c.T6426C:p.P2142P,CACNA1G:NM_198386:exon35:c.T6441C:p.P2147P,CACNA1G:NM_001256324:exon36:c.T6585C:p.P2195P,CACNA1G:NM_001256325:exon36:c.T6516C:p.P2172P,CACNA1G:NM_001256326:exon36:c.T6504C:p.P2168P,CACNA1G:NM_001256327:exon36:c.T6474C:p.P2158P,CACNA1G:NM_001256329:exon36:c.T6393C:p.P2131P,CACNA1G:NM_001256334:exon36:c.T6225C:p.P2075P,CACNA1G:NM_001256359:exon36:c.T6414C:p.P2138P,CACNA1G:NM_198380:exon36:c.T6606C:p.P2202P,CACNA1G:NM_198383:exon36:c.T6561C:p.P2187P,CACNA1G:NM_198384:exon36:c.T6495C:p.P2165P,CACNA1G:NM_198396:exon36:c.T6672C:p.P2224P,CACNA1G:NM_001256333:exon37:c.T6258C:p.P2086P,CACNA1G:NM_198377:exon37:c.T6741C:p.P2247P,CACNA1G:NM_198385:exon37:c.T6639C:p.P2213P,CACNA1G:NM_018896:exon38:c.T6774C:p.P2258P exonic ENSG00000006283 NA synonymous SNV ENSG00000006283:ENST00000352832:exon34:c.T6393C:p.P2131P,ENSG00000006283:ENST00000442258:exon34:c.T6372C:p.P2124P,ENSG00000006283:ENST00000358244:exon35:c.T6156C:p.P2052P,ENSG00000006283:ENST00000360761:exon35:c.T6426C:p.P2142P,ENSG00000006283:ENST00000429973:exon35:c.T6441C:p.P2147P,ENSG00000006283:ENST00000510115:exon35:c.T6537C:p.P2179P,ENSG00000006283:ENST00000510366:exon35:c.T6339C:p.P2113P,ENSG00000006283:ENST00000512389:exon35:c.T6462C:p.P2154P,ENSG00000006283:ENST00000513964:exon35:c.T6360C:p.P2120P,ENSG00000006283:ENST00000514181:exon35:c.T6420C:p.P2140P,ENSG00000006283:ENST00000514717:exon35:c.T6324C:p.P2108P,ENSG00000006283:ENST00000354983:exon36:c.T6672C:p.P2224P,ENSG00000006283:ENST00000502264:exon36:c.T6561C:p.P2187P,ENSG00000006283:ENST00000503485:exon36:c.T6393C:p.P2131P,ENSG00000006283:ENST00000507609:exon36:c.T6474C:p.P2158P,ENSG00000006283:ENST00000507896:exon36:c.T6225C:p.P2075P,ENSG00000006283:ENST00000513689:exon36:c.T6504C:p.P2168P,ENSG00000006283:ENST00000514079:exon36:c.T6516C:p.P2172P,ENSG00000006283:ENST00000515165:exon36:c.T6495C:p.P2165P,ENSG00000006283:ENST00000515411:exon36:c.T6585C:p.P2195P,ENSG00000006283:ENST00000515765:exon36:c.T6606C:p.P2202P,ENSG00000006283:ENST00000505165:exon37:c.T6258C:p.P2086P,ENSG00000006283:ENST00000507336:exon37:c.T6741C:p.P2247P,ENSG00000006283:ENST00000507510:exon37:c.T6639C:p.P2213P,ENSG00000006283:ENST00000359106:exon38:c.T6774C:p.P2258P NA NA 17q21.33 Score=744;Name=V$NRSF_01 Name=CTCF,HDAC2_(SC-6296),EBF1_(C-8),GABP,CTCF_(SC-5916),Rad21,SMC3_(ab9263),CTCFL_(SC-98982),EBF Name=137 NA rs739925 0.38 0.38 0.364 0.367212 0.4433 0.1786 0.2651 0.5393 0.3231 0.45 0.17 0.33 0.56 0.4165 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.516436 NA NA 0.433029 0.5069 NA 0.486 NA 7.3738376 923 19 49261368 49261368 T C exonic FGF21 NA nonsynonymous SNV FGF21:NM_019113:exon3:c.T521C:p.L174P exonic ENSG00000105550 NA nonsynonymous SNV ENSG00000105550:ENST00000222157:exon3:c.T521C:p.L174P,ENSG00000105550:ENST00000593756:exon4:c.T521C:p.L174P NA NA 19q13.33 NA Name=HNF4A_(H-171),SP1,FOXA1_(C-20) NA NA rs739320 0.83 0.83 0.794 0.85643 0.6322 1 0.817 0.9561 0.8323 0.64 1 0.8 0.95 0.7273 1 0.2 T 0.0 B 0.0 B 0.507 N 1.000 P -0.695 N -1.52 D -1.012 T 0.000 T 0.079 0.5 6.714 0.608 0.133 -0.747 3.554 0.500441 NA 0.2 0.601121 0.888405 ID=COSM439925;OCCURENCE=1(breast),1(large_intestine) 0.855 NA 7.3727124 923 9 114484837 114484837 G T exonic C9orf84 NA synonymous SNV C9orf84:NM_001080551:exon11:c.C1674A:p.L558L,C9orf84:NM_173521:exon13:c.C1791A:p.L597L exonic ENSG00000165181 NA synonymous SNV ENSG00000165181:ENST00000394777:exon11:c.C1674A:p.L558L,ENSG00000165181:ENST00000394779:exon11:c.C1674A:p.L558L,ENSG00000165181:ENST00000318737:exon13:c.C1791A:p.L597L,ENSG00000165181:ENST00000374287:exon15:c.C1791A:p.L597L Score=476;Name=lod=115 NA 9q31.3 Score=767;Name=V$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 923 12 58023981 58023981 C A exonic B4GALNT1 NA synonymous SNV B4GALNT1:NM_001276468:exon5:c.G501T:p.L167L,B4GALNT1:NM_001276469:exon6:c.G666T:p.L222L,B4GALNT1:NM_001478:exon6:c.G666T:p.L222L exonic ENSG00000135454 NA nonsynonymous SNV ENSG00000135454:ENST00000552798:exon5:c.G625T:p.G209C Score=528;Name=lod=187 NA 12q13.3 Score=855;Name=V$CEBP_C NA NA NA rs715930 0.22 0.22 0.205 0.213059 0.2058 0.1319 0.281 0.2776 0.1687 0.21 0.15 0.26 0.29 0.2108 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.424631 1.424631 NA 0.211744 0.262369 ID=COSM147556;OCCURENCE=1(stomach) 0.21 NA 7.371656 923 8 86057707 86057707 A G exonic LRRCC1 NA synonymous SNV LRRCC1:NM_033402:exon19:c.A3060G:p.Q1020Q exonic ENSG00000133739 NA synonymous SNV ENSG00000133739:ENST00000414626:exon18:c.A3000G:p.Q1000Q,ENSG00000133739:ENST00000360375:exon19:c.A3060G:p.Q1020Q Score=440;Name=lod=82 NA 8q21.2 Score=902;Name=V$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 923 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 923 2 186697876 186697876 A G exonic FSIP2 NA nonsynonymous SNV FSIP2:NM_173651:exon23:c.A20914G:p.T6972A exonic ENSG00000188738 NA nonsynonymous SNV ENSG00000188738:ENST00000343098:exon23:c.A20914G:p.T6972A,ENSG00000188738:ENST00000424728:exon23:c.A20647G:p.T6883A Score=374;Name=lod=44 NA 2q32.1 NA NA NA NA rs1468999 0.96 0.96 0.955 0.957069 0.9891 0.9425 0.9207 0.9342 0.9959 0.99 0.94 0.93 0.95 0.9766 1 1 T . . . . 0.740 N 1.000 P -0.625 N 0.99 T -0.973 T 0.000 T 0.021 -1.679 0.012 3.3 0.299 1.084 6.125 -1.679361 NA 1 0.997928 0.938544 NA 0.978 NA 7.3697054 923 10 5790420 5790420 T C exonic FAM208B NA nonsynonymous SNV FAM208B:NM_017782:exon15:c.T5036C:p.V1679A exonic ENSG00000108021 NA nonsynonymous SNV ENSG00000108021:ENST00000328090:exon15:c.T5036C:p.V1679A NA NA 10p15.1 NA Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) Name=12 NA rs2669142 0.98 0.98 0.977 0.977436 0.9851 1 0.9798 0.9478 0.9847 0.99 1 0.98 0.94 0.9876 1 0.37 T 0.0 B 0.0 B 0.932 N 1.000 P 0 N 3.72 T -1.060 T 0.000 T 0.032 0.675 7.614 -3.28 -0.626 -0.382 0.424 0.675403 NA 0.37 0.990975 0.954714 NA 0.891 NA 7.3696584 923 3 184298663 184298663 G A exonic EPHB3 NA synonymous SNV EPHB3:NM_004443:exon13:c.G2535A:p.Q845Q exonic ENSG00000182580 NA synonymous SNV ENSG00000182580:ENST00000330394:exon13:c.G2535A:p.Q845Q Score=706;Name=lod=987 NA 3q27.1 Score=851;Name=V$ELK1_01 NA NA NA rs11719912 0.08 0.08 0.086 0.0660942 0.1203 NA 0.0735 0.1067 0.0184 0.11 NA 0.07 0.12 0.076 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 0.132196 NA NA 0.10186 0.100091 NA 0.138 NA 7.3685066 923 11 65636053 65636053 T C exonic EFEMP2 NA nonsynonymous SNV EFEMP2:NM_016938:exon8:c.A775G:p.I259V exonic ENSG00000172638 NA nonsynonymous SNV ENSG00000172638:ENST00000307998:exon8:c.A775G:p.I259V,ENSG00000172638:ENST00000528176:exon8:c.A775G:p.I259V,ENSG00000172638:ENST00000531972:exon8:c.A775G:p.I259V Score=571;Name=lod=280 NA 11q13.1 NA Name=Pol2 NA NA rs601314 0.91 0.91 0.885 0.894569 0.997 1 0.9597 0.6248 0.999 1 1 0.96 0.65 0.9695 1 1 T 0.0 B 0.001 B 0.018 N 1.000 P -0.515 N -1.1 T -0.945 T 0.000 T 0.045 -0.106 3.482 1.9 0.610 0.543 3.603 -0.105741 NA 1 0.998487 0.691504 NA 0.884 CLINSIG=non-pathogenic;CLNDBN=Autosomal_recessive_cutis_laxa_type_IA;CLNREVSTAT=single;CLNACC=RCV000032273.1;CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK5201:NBK54467:CN033664:219100:ORPHA90349 7.3683464 923 3 3170792 3170792 C T exonic TRNT1 NA nonsynonymous SNV TRNT1:NM_182916:exon2:c.C68T:p.P23L exonic ENSG00000072756 NA nonsynonymous SNV ENSG00000072756:ENST00000397779:exon1:c.C68T:p.P23L,ENSG00000072756:ENST00000251607:exon2:c.C68T:p.P23L,ENSG00000072756:ENST00000280591:exon2:c.C68T:p.P23L,ENSG00000072756:ENST00000339437:exon2:c.C68T:p.P23L,ENSG00000072756:ENST00000402675:exon2:c.C68T:p.P23L,ENSG00000072756:ENST00000413000:exon2:c.C68T:p.P23L,ENSG00000072756:ENST00000434583:exon2:c.C68T:p.P23L,ENSG00000072756:ENST00000420393:exon3:c.C68T:p.P23L Score=278;Name=lod=18 NA 3p26.2 NA NA NA NA rs334773 0.92 0.92 0.909 0.904553 0.995 1 0.9683 0.6589 1 1 1 0.98 0.67 0.9722 1 0.66 T 0.0 B 0.0 B 0.380 N 1.000 P -1.59 N 2.11 T -1.012 T 0.000 T 0.175 -1.084 0.158 3.44 0.162 1.435 6.448 -1.083991 NA 1 0.998488 0.713118 NA 0.899 NA 7.3676454 923 17 1538628 1538628 C G exonic SCARF1 NA nonsynonymous SNV SCARF1:NM_003693:exon11:c.G1917C:p.E639D exonic ENSG00000074660 NA nonsynonymous SNV ENSG00000074660:ENST00000348987:exon9:c.G1659C:p.E553D,ENSG00000074660:ENST00000263071:exon11:c.G1917C:p.E639D NA NA 17p13.3 NA NA NA NA rs3744644 0.91 0.91 0.886 0.903754 0.998 0.9256 0.9813 0.7292 0.9652 1 0.93 0.98 0.7 0.9698 1 0.56 T 0.925 P 0.616 P 0.001 D 1.000 P 1.725 L 1.13 T -0.907 T 0.000 T 0.1 0.796 8.191 3.2 0.576 -0.283 7.906 0.796078 NA 0.39 0.998371 0.775533 NA 0.899 NA 7.3671624 923 6 152265522 152265522 G C exonic ESR1 NA synonymous SNV ESR1:NM_000125:exon4:c.G975C:p.P325P,ESR1:NM_001122740:exon5:c.G975C:p.P325P,ESR1:NM_001122741:exon5:c.G975C:p.P325P,ESR1:NM_001122742:exon6:c.G975C:p.P325P exonic ENSG00000091831 NA synonymous SNV ENSG00000091831:ENST00000206249:exon4:c.G975C:p.P325P,ENSG00000091831:ENST00000544394:exon4:c.G456C:p.P152P,ENSG00000091831:ENST00000338799:exon5:c.G975C:p.P325P,ENSG00000091831:ENST00000443427:exon5:c.G975C:p.P325P,ENSG00000091831:ENST00000440973:exon6:c.G975C:p.P325P NA NA 6q25.1 NA Name=Pol2 Name=4 NA rs1801132 0.74 0.74 0.766 0.717652 0.7893 0.498 0.7291 0.9342 0.5695 0.78 0.51 0.75 0.93 0.7362 0.93 . . . . . . . . 0.000 P . . . . -0.988 T 0.019 T . -0.539 1.553 -1.61 -0.415 -1.169 2.144 -0.538716 NA NA 0.774302 0.892646 NA 0.754 NA 7.3668646 923 12 101750814 101750814 T A exonic UTP20 NA nonsynonymous SNV UTP20:NM_014503:exon43:c.T5645A:p.L1882Q exonic ENSG00000120800 NA nonsynonymous SNV ENSG00000120800:ENST00000261637:exon43:c.T5645A:p.L1882Q Score=259;Name=lod=15 NA 12q23.2 NA NA NA NA rs10082778 0.99 0.99 0.995 0.996605 0.9861 1 0.9957 1 1 0.98 1 0.99 1 0.9917 1 0.78 T 0.0 B 0.0 B 0.000 N 0.998 P -1.05 N 1.03 T -0.961 T 0.000 T 0.056 -0.352 2.337 4.66 0.477 4.448 6.479 -0.351992 NA 1 0.988953 0.99773 NA 1 NA 7.3665804 923 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 923 4 36081878 36081878 C T exonic ARAP2 NA nonsynonymous SNV ARAP2:NM_015230:exon31:c.G4568A:p.R1523Q exonic ENSG00000047365 NA nonsynonymous SNV ENSG00000047365:ENST00000303965:exon31:c.G4568A:p.R1523Q Score=503;Name=lod=148 NA 4p14 NA NA NA NA rs4833069 0.99 0.99 0.996 0.995208 0.9861 1 0.9928 0.9992 0.9959 0.98 1 0.99 1 0.9922 1 0.75 T 0.0 B 0.0 B 0.009 N 1.000 P -1.95 N -0.88 T -0.926 T 0.000 T 0.036 -1.387 0.024 4.53 0.106 1.986 11.504 -1.387327 NA 0.96 0.989535 0.998411 NA 0.993 NA 7.3654984 923 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 924 20 2290333 2290333 C A exonic TGM3 NA nonsynonymous SNV TGM3:NM_003245:exon2:c.C38A:p.T13K exonic ENSG00000125780 NA nonsynonymous SNV ENSG00000125780:ENST00000381458:exon2:c.C38A:p.T13K NA NA 20p13 NA NA NA NA rs214803 0.77 0.77 0.741 0.742612 0.838 0.9246 0.8329 0.41 0.8425 0.83 0.94 0.81 0.43 0.8102 0.94 0.3 T 0.727 P 0.052 B 0.222 N 1.000 P -0.145 N -1.82 D -0.904 T 0.000 T 0.051 1.049 9.284 -1.08 -0.157 -1.742 2.908 1.048874 NA 0.3 0.820698 0.48502 ID=COSM1533216;OCCURENCE=1(lung) 0.754 NA 7.3644354 924 11 44640268 44640268 A G exonic CD82 NA nonsynonymous SNV CD82:NM_001024844:exon8:c.A646G:p.I216V,CD82:NM_002231:exon9:c.A721G:p.I241V exonic ENSG00000085117 NA nonsynonymous SNV ENSG00000085117:ENST00000342935:exon8:c.A646G:p.I216V,ENSG00000085117:ENST00000227155:exon9:c.A721G:p.I241V Score=501;Name=lod=145 NA 11p11.2 NA Name=Egr-1 NA NA rs1139971 0.55 0.55 0.48 0.587061 0.6571 0.502 0.6311 0.388 0.8405 0.66 0.48 0.64 0.39 0.6427 0.67 0.49 T 0.04 B 0.057 B 0.095 N 0.000 P 1.145 L -1.35 T -0.920 T 0.000 T 0.055 0.367 5.992 0.664 -0.153 0.750 6.158 0.36698 NA 0.22 0.669807 0.42079 NA 0.471 NA 7.3637264 924 17 80059596 80059596 T C exonic CCDC57 NA nonsynonymous SNV CCDC57:NM_198082:exon17:c.A2710G:p.R904G exonic ENSG00000176155 NA nonsynonymous SNV ENSG00000176155:ENST00000392347:exon17:c.A2713G:p.R905G,ENSG00000176155:ENST00000389641:exon18:c.A2713G:p.R905G NA NA 17q25.3 NA NA NA NA rs13949 0.39 0.39 0.383 0.388778 0.4821 0.13 0.3242 0.5719 0.3579 0.49 0.14 0.35 0.58 0.452 0.59 0.25 T 0.572 P 0.173 B . . 1.000 P 0.695 N 2.86 T -0.975 T 0.000 T 0.177 0.859 8.475 -2.47 0.006 -0.420 6.584 0.858506 NA 0 0.536001 0.586488 NA 0.413 NA 7.3632324 924 6 88224164 88224164 T C exonic RARS2 NA synonymous SNV RARS2:NM_020320:exon20:c.A1704G:p.K568K exonic ENSG00000146282 NA synonymous SNV ENSG00000146282:ENST00000369536:exon20:c.A1704G:p.K568K Score=609;Name=lod=397 NA 6q15 NA NA NA NA rs8802 0.14 0.14 0.131 0.131989 0.1014 0.1468 0.1441 0.1604 0.1012 0.11 0.14 0.15 0.18 0.1093 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066367 NA NA 0.093023 0.164094 NA 0.159 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118123.2;CLNDSDB=.;CLNDSDBID=. 7.3629436 924 3 196281208 196281208 T C exonic WDR53 NA synonymous SNV WDR53:NM_182627:exon4:c.A951G:p.P317P exonic ENSG00000185798 NA synonymous SNV ENSG00000185798:ENST00000429115:exon2:c.A468G:p.P156P,ENSG00000185798:ENST00000433160:exon3:c.A474G:p.P158P,ENSG00000185798:ENST00000332629:exon4:c.A951G:p.P317P Score=366;Name=lod=41 NA 3q29 NA Name=Max Name=6 NA rs9311 0.3 0.3 0.287 0.32488 0.4503 0.0595 0.317 0.3707 0.4131 0.45 0.07 0.32 0.33 0.4002 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.828361 NA NA 0.453721 0.370858 NA 0.319 NA 7.3624456 924 12 10978402 10978402 G A exonic TAS2R10 NA nonsynonymous SNV TAS2R10:NM_023921:exon1:c.C467T:p.T156M exonic ENSG00000121318 NA nonsynonymous SNV ENSG00000121318:ENST00000240619:exon1:c.C467T:p.T156M NA NA 12p13.2 NA NA NA NA rs597468 0.96 0.96 0.952 0.942891 0.997 1 0.9841 0.8101 0.9785 1 1 0.98 0.83 0.9786 1 0.25 T 0.0 B 0.001 B 0.000 N 1.000 P -1.245 N 1.18 T -0.929 T 0.000 T 0.023 0.445 6.415 -8.28 -1.587 -3.532 3.904 0.444652 NA 1 0.99534 0.83144 NA 0.877 NA 7.3623934 924 10 11797467 11797467 G A exonic ECHDC3 NA nonsynonymous SNV ECHDC3:NM_024693:exon4:c.G451A:p.A151T exonic ENSG00000134463 NA nonsynonymous SNV ENSG00000134463:ENST00000422887:exon3:c.G232A:p.A78T,ENSG00000134463:ENST00000379215:exon4:c.G451A:p.A151T,ENSG00000134463:ENST00000420401:exon4:c.G610A:p.A204T Score=507;Name=lod=154 NA 10p14 NA NA NA NA rs7910140 0.93 0.93 0.902 0.915935 0.997 1 0.9755 0.6974 0.999 1 1 0.98 0.72 0.9757 1 1 T 0.007 B 0.023 B 0.000 N 0.775 P -0.95 N 0.94 T -0.933 T 0.000 T 0.359 0.401 6.177 4.16 0.314 5.108 6.782 0.400835 NA 1 0.998256 0.744212 NA 0.884 NA 7.3623774 924 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 924 13 46648094 46648094 C T exonic CPB2 NA nonsynonymous SNV CPB2:NM_001872:exon6:c.G505A:p.A169T exonic ENSG00000080618 NA nonsynonymous SNV ENSG00000080618:ENST00000181383:exon6:c.G505A:p.A169T,ENSG00000080618:ENST00000439329:exon6:c.G505A:p.A169T NA NA 13q14.13 NA NA NA NA rs3742264 0.34 0.34 0.343 0.307308 0.336 0.256 0.304 0.4251 0.1738 0.35 0.28 0.31 0.42 0.3116 0.43 0.65 T 0.0 B 0.0 B 0.619 N 1.000 P -0.185 N 2.83 T -0.901 T 0.000 T 0.017 0.095 4.51 2.66 0.049 0.765 4.689 0.094684 NA 0.73 0.323488 0.389015 NA 0.399 NA 7.3622454 924 14 23549380 23549380 G A exonic ACIN1 NA synonymous SNV ACIN1:NM_001164815:exon5:c.C1218T:p.P406P,ACIN1:NM_001164814:exon6:c.C1338T:p.P446P,ACIN1:NM_014977:exon6:c.C1338T:p.P446P exonic ENSG00000100813 NA synonymous SNV ENSG00000100813:ENST00000457657:exon5:c.C1218T:p.P406P,ENSG00000100813:ENST00000262710:exon6:c.C1338T:p.P446P,ENSG00000100813:ENST00000555053:exon6:c.C1338T:p.P446P,ENSG00000100813:ENST00000605057:exon6:c.C1164T:p.P388P Score=440;Name=lod=82 NA 14q11.2 Score=832;Name=V$GR_Q6 NA NA NA rs1885098 0.08 0.08 NA 0.105232 0.1561 0.004 0.1239 0.0877 0.1677 0.13 0.0017 0.11 0.06 0.1448 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824014 NA NA 0.003605 0.001135 NA NA NA 7.3621616 924 10 45953767 45953767 A G exonic MARCH8 NA nonsynonymous SNV MARCH8:NM_001002266:exon7:c.T796C:p.Y266H,MARCH8:NM_145021:exon7:c.T796C:p.Y266H,MARCH8:NM_001002265:exon8:c.T796C:p.Y266H exonic ENSG00000165406 NA nonsynonymous SNV ENSG00000165406:ENST00000319836:exon7:c.T796C:p.Y266H,ENSG00000165406:ENST00000395769:exon7:c.T796C:p.Y266H,ENSG00000165406:ENST00000395771:exon8:c.T796C:p.Y266H,ENSG00000165406:ENST00000453424:exon8:c.T1642C:p.Y548H NA NA 10q11.21 NA NA NA NA rs7908745 0.31 0.31 0.308 0.302915 0.3529 0.1706 0.3703 0.3328 0.2996 0.35 0.18 0.35 0.35 0.3146 0.35 0.57 T 0.0 B 0.0 B 0.006 N 1.000 P 0 N 2.81 T -0.917 T 0.000 T 0.25 0.498 6.703 0.455 -0.157 2.648 5.541 0.498336 NA 0.56 0.30407 0.352701 NA 0.246 NA 7.3617634 924 12 6560473 6560473 A G exonic CD27 NA nonsynonymous SNV CD27:NM_001242:exon6:c.A698G:p.H233R exonic ENSG00000139193 NA nonsynonymous SNV ENSG00000139193:ENST00000266557:exon6:c.A698G:p.H233R NA NA 12p13.31 NA Name=SP1,NFKB Name=5 NA rs2532502 1 1 0.995 0.997404 0.9901 1 0.9986 1 0.998 0.99 1 1 1 0.9926 1 0.48 T 0.0 B 0.0 B 0.693 N 1.000 P 0 N -3.33 D -0.964 T 0.000 T 0.046 0.331 5.795 1.88 0.074 0.357 6.474 0.330925 NA 0.6 0.989302 0.996369 NA 0.993 NA 7.3613314 924 2 188211112 188211112 C T exonic CALCRL NA synonymous SNV CALCRL:NM_001271751:exon14:c.G1185A:p.L395L,CALCRL:NM_005795:exon15:c.G1185A:p.L395L exonic ENSG00000064989 NA synonymous SNV ENSG00000064989:ENST00000410068:exon14:c.G1185A:p.L395L,ENSG00000064989:ENST00000392370:exon15:c.G1185A:p.L395L,ENSG00000064989:ENST00000409998:exon16:c.G1185A:p.L395L Score=607;Name=lod=390 NA 2q32.1 Score=853;Name=V$STAT5A_01 NA NA NA rs3771095 0.07 0.07 0.064 0.086861 0.1004 0.0724 0.0634 0.0197 0.1953 0.1 0.07 0.07 0.01 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 0.98793 NA NA 0.102466 0.037222 NA 0.043 NA 7.3610006 924 17 59560463 59560463 C T exonic TBX4 NA synonymous SNV TBX4:NM_018488:exon8:c.C1224T:p.D408D exonic ENSG00000121075 NA synonymous SNV ENSG00000121075:ENST00000240335:exon8:c.C1224T:p.D408D,ENSG00000121075:ENST00000393853:exon9:c.C1227T:p.D409D Score=467;Name=lod=105 NA 17q23.2 Score=944;Name=V$P53_02 NA NA NA rs7218485 0.1 0.1 0.1 0.115615 0.0994 0.1151 0.0764 0.1135 0.1636 0.09 0.11 0.07 0.14 0.1019 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.14628 NA NA 0.104535 0.110304 ID=COSM1384986;OCCURENCE=1(large_intestine) 0.109 NA 7.3608316 924 4 169835134 169835134 A G exonic PALLD NA synonymous SNV PALLD:NM_001166110:exon7:c.A1167G:p.R389R,PALLD:NM_001166109:exon14:c.A1482G:p.R494R,PALLD:NM_016081:exon15:c.A2628G:p.R876R,PALLD:NM_001166108:exon16:c.A2679G:p.R893R exonic ENSG00000129116 NA synonymous SNV ENSG00000129116:ENST00000507735:exon7:c.A1167G:p.R389R,ENSG00000129116:ENST00000512127:exon14:c.A1482G:p.R494R,ENSG00000129116:ENST00000261509:exon15:c.A2628G:p.R876R,ENSG00000129116:ENST00000335742:exon16:c.A2154G:p.R718R,ENSG00000129116:ENST00000505667:exon16:c.A2679G:p.R893R Score=544;Name=lod=216 NA 4q32.3 Score=848;Name=V$P300_01 NA NA NA rs1059444 0.11 0.11 0.108 0.105431 0.1024 0.0278 0.1268 0.205 0.0389 0.09 0.04 0.13 0.21 0.0927 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.259194 1.259194 NA 0.111163 0.199274 NA 0.109 NA 7.3604036 924 11 8942999 8942999 G A exonic C11orf16 NA nonsynonymous SNV C11orf16:NM_020643:exon6:c.C1268T:p.A423V exonic ENSG00000176029 NA nonsynonymous SNV ENSG00000176029:ENST00000326053:exon6:c.C1268T:p.A423V NA NA 11p15.4 NA NA NA NA rs2568023 0.93 0.93 0.924 0.921725 0.998 1 0.9741 0.7186 1 1 1 0.98 0.73 0.9769 1 1 T 0.0 B 0.0 B 0.019 N 1.000 P 0.345 N 1.39 T -0.933 T 0.000 T 0.009 -0.922 0.394 -4.19 -1.393 -1.283 13.190 -0.922121 NA 1 0.998138 0.761699 NA 0.855 NA 7.3602954 924 11 101771248 101771248 G A exonic ANGPTL5 NA nonsynonymous SNV ANGPTL5:NM_178127:exon7:c.C574T:p.R192W exonic ENSG00000187151 NA nonsynonymous SNV ENSG00000187151:ENST00000534527:exon4:c.C379T:p.R127W,ENSG00000187151:ENST00000334289:exon7:c.C574T:p.R192W Score=590;Name=lod=334 NA 11q22.1 NA NA NA NA rs3858418 0.99 0.99 0.994 0.996805 0.9871 1 0.9986 0.9992 0.999 0.99 1 1 1 0.9928 1 1 T 0.0 B 0.0 B 0.000 N 0.998 P -4.345 N 0.01 T -0.874 T 0.000 T 0.152 0.566 7.061 4.88 0.807 5.970 10.855 0.566358 NA 1 0.993254 0.998638 NA 0.928 NA 7.3601794 924 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 924 2 220419339 220419339 T C exonic OBSL1 NA nonsynonymous SNV OBSL1:NM_015311:exon15:c.A4733G:p.Q1578R exonic ENSG00000124006 NA nonsynonymous SNV ENSG00000124006:ENST00000373876:exon14:c.A4457G:p.Q1486R,ENSG00000124006:ENST00000404537:exon15:c.A4733G:p.Q1578R Score=435;Name=lod=78 NA 2q35 NA NA NA NA rs10932814 0.97 0.97 0.96 0.961062 0.995 1 0.987 0.8631 1 1 1 0.99 0.86 0.9859 1 0.52 T 0.0 B 0.0 B . . 0.000 P -0.885 N 1.03 T -0.973 T 0.000 T 0.058 0.453 6.462 4.37 1.075 0.195 9.828 0.45334 NA 0.54 0.99248 0.898701 NA 0.949 NA 7.3599534 924 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 924 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 924 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 924 X 99941705 99941705 T C exonic SYTL4 NA nonsynonymous SNV SYTL4:NM_001174068:exon12:c.A1258G:p.I420V,SYTL4:NM_001129896:exon13:c.A1258G:p.I420V,SYTL4:NM_080737:exon14:c.A1258G:p.I420V exonic ENSG00000102362 NA nonsynonymous SNV ENSG00000102362:ENST00000263033:exon12:c.A1258G:p.I420V,ENSG00000102362:ENST00000276141:exon12:c.A1258G:p.I420V,ENSG00000102362:ENST00000454200:exon12:c.A1264G:p.I422V,ENSG00000102362:ENST00000455616:exon13:c.A1258G:p.I420V,ENSG00000102362:ENST00000372989:exon14:c.A1258G:p.I420V NA NA Xq22.1 NA NA NA NA rs2022039 0.95 0.95 0.94038 NA NA NA NA NA NA 1 1 0.98 0.8 0.9754 1 . . 0.001 B 0.003 B 0.086 N 0.316 P -0.6 N 3.21 T -0.899 T 0.000 T 0.076 -0.643 1.162 -5.45 -1.333 -0.083 17.867 -0.643395 NA 0.56 0.998811 0.765059 NA 0.688 NA 7.3591224 924 20 18296072 18296072 T A exonic ZNF133 NA nonsynonymous SNV ZNF133:NM_001083330:exon4:c.T574A:p.S192T,ZNF133:NM_003434:exon7:c.T574A:p.S192T exonic ENSG00000125846 NA nonsynonymous SNV ENSG00000125846:ENST00000538547:exon2:c.T292A:p.S98T,ENSG00000125846:ENST00000535822:exon3:c.T292A:p.S98T,ENSG00000125846:ENST00000316358:exon4:c.T577A:p.S193T,ENSG00000125846:ENST00000396026:exon5:c.T586A:p.S196T,ENSG00000125846:ENST00000401790:exon5:c.T577A:p.S193T,ENSG00000125846:ENST00000402618:exon5:c.T388A:p.S130T,ENSG00000125846:ENST00000377671:exon7:c.T574A:p.S192T NA NA 20p11.23 NA NA NA NA rs1033545 0.99 0.99 0.995 0.994808 0.9871 1 1 0.9977 0.9898 0.99 1 1 0.99 0.9948 1 0.18 T 0.0 B 0.001 B 0.564 N 1.000 P -0.895 N 3.43 T -1.029 T 0.000 T 0.047 -2.351 0.004 -3.74 -1.225 -1.711 2.787 -2.351318 NA 0.53 0.99407 0.998184 NA 1 NA 7.3573634 924 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 924 9 100895443 100895443 C T exonic CORO2A NA synonymous SNV CORO2A:NM_003389:exon5:c.G525A:p.T175T,CORO2A:NM_052820:exon5:c.G525A:p.T175T exonic ENSG00000106789 NA synonymous SNV ENSG00000106789:ENST00000343933:exon5:c.G525A:p.T175T,ENSG00000106789:ENST00000375077:exon5:c.G525A:p.T175T Score=381;Name=lod=47 NA 9q22.33 Score=797;Name=V$MEIS1AHOXA9_01 NA NA NA rs735111 0.06 0.06 0.046 0.0585064 0.0994 0.0347 0.085 0.003 0.0971 0.11 0.04 0.09 0.002 0.0959 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.185657 NA NA 0.115465 0.024966 NA 0.007 NA 7.3559016 924 13 95364046 95364046 C G exonic SOX21 NA synonymous SNV SOX21:NM_007084:exon1:c.G258C:p.L86L exonic ENSG00000125285 NA synonymous SNV ENSG00000125285:ENST00000376945:exon1:c.G258C:p.L86L Score=805;Name=lod=2482 NA 13q32.1 NA Name=SUZ12,Egr-1 Name=47 NA rs1060474 0.42 0.42 0.382 0.380391 0.4692 0.4692 0.428 0.267 0.317 0.46 0.49 0.46 0.27 0.4185 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.045994 NA NA 0.42314 0.302769 NA 0.101 NA 7.3558266 924 2 17942775 17942775 T A exonic GEN1 NA nonsynonymous SNV GEN1:NM_001130009:exon3:c.T274A:p.S92T,GEN1:NM_182625:exon3:c.T274A:p.S92T exonic ENSG00000178295 NA nonsynonymous SNV ENSG00000178295:ENST00000317402:exon3:c.T274A:p.S92T,ENSG00000178295:ENST00000381254:exon3:c.T274A:p.S92T,ENSG00000178295:ENST00000524465:exon3:c.T274A:p.S92T,ENSG00000178295:ENST00000532257:exon3:c.T274A:p.S92T Score=579;Name=lod=300 NA 2p24.2 Score=770;Name=V$STAT5A_02 NA NA NA rs1812152 0.79 0.79 0.784 0.813698 0.6382 0.9861 0.781 0.7708 0.8978 0.65 0.98 0.75 0.8 0.7138 0.98 0.64 T 0.0 B 0.002 B 0.084 N 0.000 P -0.47 N -0.01 T -1.005 T 0.000 T 0.088 -0.328 2.445 0.326 -0.076 0.567 6.29 -0.327812 NA 0.53 0.62593 0.759646 NA 0.732 NA 7.3554034 924 1 159850401 159850401 C G exonic CCDC19 NA synonymous SNV CCDC19:NM_012337:exon8:c.G987C:p.L329L exonic ENSG00000213085 NA synonymous SNV ENSG00000213085:ENST00000368099:exon8:c.G987C:p.L329L,ENSG00000213085:ENST00000426543:exon8:c.G732C:p.L244L Score=439;Name=lod=81 NA 1q23.2 NA Name=GATA-2 NA NA rs7550537 0.11 0.11 0.109 0.123003 0.0984 0.1071 0.062 0.146 0.1769 0.09 0.12 0.07 0.15 0.1151 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.59582 NA NA 0.097791 0.145483 NA 0.152 NA 7.3553756 924 X 118281538 118281538 C A exonic KIAA1210 NA nonsynonymous SNV KIAA1210:NM_020721:exon2:c.G308T:p.G103V exonic ENSG00000250423 NA nonsynonymous SNV ENSG00000250423:ENST00000402510:exon2:c.G308T:p.G103V NA NA Xq24 NA Name=CTCF Name=5 NA rs5910522 0.94 0.94 0.93164 NA NA NA NA NA NA 1 1 0.97 0.76 0.9792 1 1 T 0.0 B 0.0 B . . 1.000 P 0 N 2.47 T -0.967 T 0.000 T 0.081 -0.417 2.053 1.3 -0.093 0.269 2.727 -0.417314 NA 0.76 0.998928 0.783314 NA 0.688 NA 7.3552054 924 11 89133449 89133449 C T exonic NOX4 NA nonsynonymous SNV NOX4:NM_001143836:exon10:c.G945A:p.M315I,NOX4:NM_016931:exon10:c.G945A:p.M315I,NOX4:NM_001143837:exon13:c.G873A:p.M291I exonic ENSG00000086991 NA nonsynonymous SNV ENSG00000086991:ENST00000527626:exon6:c.G447A:p.M149I,ENSG00000086991:ENST00000528341:exon9:c.G870A:p.M290I,ENSG00000086991:ENST00000263317:exon10:c.G945A:p.M315I,ENSG00000086991:ENST00000343727:exon10:c.G873A:p.M291I,ENSG00000086991:ENST00000413594:exon10:c.G1008A:p.M336I,ENSG00000086991:ENST00000424319:exon10:c.G873A:p.M291I,ENSG00000086991:ENST00000532825:exon10:c.G873A:p.M291I,ENSG00000086991:ENST00000534731:exon10:c.G945A:p.M315I,ENSG00000086991:ENST00000535633:exon10:c.G873A:p.M291I,ENSG00000086991:ENST00000527956:exon11:c.G873A:p.M291I,ENSG00000086991:ENST00000542487:exon13:c.G873A:p.M291I Score=395;Name=lod=54 NA 11q14.3 NA NA NA NA rs317139 1 1 0.998 0.997404 0.995 1 0.9928 1 0.9969 0.99 1 1 1 0.9925 1 . . 0.0 B 0.0 B 0.000 N 0.000 P -1.975 N -2.93 D -0.958 T 0.000 T 0.162 0.371 6.013 -2.82 -0.593 -0.021 4.358 0.37081 NA 1 0.990696 0.997728 NA 0.993 NA 7.3551374 925 21 19651357 19651357 A G exonic TMPRSS15 NA synonymous SNV TMPRSS15:NM_002772:exon23:c.T2688C:p.C896C exonic ENSG00000154646 NA synonymous SNV ENSG00000154646:ENST00000284885:exon23:c.T2688C:p.C896C Score=502;Name=lod=146 NA 21q21.1 Score=948;Name=V$HFH3_01 NA NA NA rs17698445 0.11 0.11 0.114 0.114217 0.1004 0.0437 0.0677 0.2209 0.09 0.1 0.04 0.08 0.22 0.1086 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.089801 NA NA 0.102815 0.183697 NA 0.13 NA 7.3548516 925 6 24503590 24503590 C T exonic ALDH5A1 NA nonsynonymous SNV ALDH5A1:NM_001080:exon3:c.C538T:p.H180Y,ALDH5A1:NM_170740:exon3:c.C538T:p.H180Y exonic ENSG00000112294 NA nonsynonymous SNV ENSG00000112294:ENST00000491546:exon2:c.C454T:p.H152Y,ENSG00000112294:ENST00000348925:exon3:c.C538T:p.H180Y,ENSG00000112294:ENST00000357578:exon3:c.C538T:p.H180Y,ENSG00000112294:ENST00000546278:exon4:c.C274T:p.H92Y NA NA 6p22.3 NA NA NA NA rs2760118 0.31 0.31 0.322 0.314696 0.3231 0.1667 0.219 0.466 0.3221 0.33 0.18 0.25 0.46 0.3195 0.46 0.08 T 0.0 B 0.0 B 0.599 N 1.000 P 0.55 N -0.98 T -1.093 T 0.080 T 0.029 0.305 5.65 -0.044 -0.423 0.812 1.812 0.30459 NA 0.13 0.336163 0.439628 NA 0.355 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116307.2;CLNDSDB=.;CLNDSDBID=. 7.3545704 925 10 101502968 101502968 A G exonic CUTC NA synonymous SNV CUTC:NM_015960:exon4:c.A252G:p.P84P exonic ENSG00000119929 NA synonymous SNV ENSG00000119929:ENST00000370472:exon4:c.A63G:p.P21P,ENSG00000119929:ENST00000370476:exon4:c.A252G:p.P84P,ENSG00000119929:ENST00000471520:exon4:c.A252G:p.P84P Score=728;Name=lod=1208 NA 10q24.2 Score=883;Name=V$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 925 1 248814080 248814080 A C exonic OR2T27 NA nonsynonymous SNV OR2T27:NM_001001824:exon1:c.T106G:p.L36V exonic ENSG00000187701 NA nonsynonymous SNV ENSG00000187701:ENST00000344889:exon1:c.T106G:p.L36V NA NA 1q44 NA NA NA NA rs1782242 0.95 0.95 0.943 0.944688 0.996 1 0.9769 0.8056 1 1 1 0.97 0.82 0.9839 1 0.24 T 0.0 B 0.004 B 0.214 N 1.000 P . . 2.32 T -1.066 T 0.000 T 0.137 -1.044 0.202 -2.51 -0.773 -1.491 1.217 -1.043701 NA 0.25 NA NA NA 0.442 NA 7.3534334 925 11 63767186 63767186 A G exonic MACROD1 NA synonymous SNV MACROD1:NM_014067:exon6:c.T714C:p.S238S exonic ENSG00000133315 NA synonymous SNV ENSG00000133315:ENST00000255681:exon6:c.T714C:p.S238S Score=573;Name=lod=284 NA 11q13.1 Score=747;Name=V$MYOGNF1_01 Name=ZNF263,Pol2-4H8,CTCF,Pol2 NA NA rs709594 0.4 0.4 0.442 0.427915 0.4463 0.1379 0.2493 0.736 0.4182 0.44 0.13 0.28 0.72 0.4204 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.179357 NA NA 0.446577 0.691355 NA 0.159 NA 7.3533896 925 5 167489093 167489093 A T exonic TENM2 NA synonymous SNV TENM2:NM_001122679:exon7:c.A1338T:p.I446I exonic ENSG00000145934 NA synonymous SNV ENSG00000145934:ENST00000520394:exon4:c.A642T:p.I214I,ENSG00000145934:ENST00000403607:exon5:c.A837T:p.I279I,ENSG00000145934:ENST00000519204:exon6:c.A975T:p.I325I,ENSG00000145934:ENST00000518659:exon7:c.A1338T:p.I446I,ENSG00000145934:ENST00000545108:exon7:c.A1338T:p.I446I Score=508;Name=lod=155 NA 5q34 Score=747;Name=V$NRSF_01 NA NA NA rs72824988 0.1 0.1 0.082 0.111022 0.0984 0.1964 0.0706 0.0461 0.1524 0.09 0.18 0.07 0.04 0.1088 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.471296 1.471296 NA 0.106349 0.062907 ID=COSM150010;OCCURENCE=1(stomach) 0.225 NA 7.3531176 925 17 39623363 39623363 T C exonic KRT32 NA nonsynonymous SNV KRT32:NM_002278:exon1:c.A215G:p.Q72R exonic ENSG00000108759 NA nonsynonymous SNV ENSG00000108759:ENST00000225899:exon1:c.A215G:p.Q72R NA NA 17q21.2 NA NA NA NA rs3744786 0.29 0.29 0.241 0.325479 0.3032 0.3413 0.3963 0.1672 0.4959 0.29 0.31 0.43 0.17 0.3502 0.43 0.37 T 0.0 B 0.0 B 0.950 N 1.000 P 0 N -1.46 T -1.025 T 0.000 T 0.025 -0.753 0.807 -2.1 -0.904 -0.471 10.225 -0.753225 NA 0.36 0.327326 0.193373 NA 0.297 NA 7.3526074 925 7 77789403 77789403 A G exonic MAGI2 NA synonymous SNV MAGI2:NM_012301:exon16:c.T2784C:p.N928N exonic ENSG00000187391 NA synonymous SNV ENSG00000187391:ENST00000419488:exon15:c.T2742C:p.N914N,ENSG00000187391:ENST00000354212:exon16:c.T2784C:p.N928N,ENSG00000187391:ENST00000522391:exon16:c.T2784C:p.N928N Score=643;Name=lod=548 NA 7q21.11 NA NA NA NA rs1009524 0.14 0.14 0.118 0.126797 0.0944 0.1905 0.1297 0.1225 0.0982 0.1 0.18 0.18 0.14 0.1177 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.105849 NA NA 0.102442 0.116432 NA 0.094 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117571.2;CLNDSDB=.;CLNDSDBID=. 7.3521246 925 5 179201847 179201847 G A exonic MAML1 NA nonsynonymous SNV MAML1:NM_014757:exon5:c.G3020A:p.S1007N exonic ENSG00000161021 NA nonsynonymous SNV ENSG00000161021:ENST00000292599:exon5:c.G3020A:p.S1007N NA NA 5q35.3 NA NA NA NA rs6895902 0.25 0.25 0.26 0.228834 0.3579 0.1518 0.2594 0.1967 0.1973 0.37 0.13 0.27 0.2 0.2835 0.37 1 T 0.0 B 0.001 B 0.000 N 1.000 P -1.555 N 1.99 T -0.906 T 0.000 T 0.01 -0.742 0.84 1.61 -0.182 1.053 9.161 -0.742301 NA 1 0.340116 0.221844 ID=COSM1600104;OCCURENCE=1(central_nervous_system) 0.297 NA 7.3518174 925 14 88401213 88401213 T C exonic GALC NA nonsynonymous SNV GALC:NM_001201401:exon16:c.A1852G:p.T618A,GALC:NM_000153:exon17:c.A1921G:p.T641A,GALC:NM_001201402:exon17:c.A1843G:p.T615A exonic ENSG00000054983 NA nonsynonymous SNV ENSG00000054983:ENST00000393568:exon16:c.A1852G:p.T618A,ENSG00000054983:ENST00000261304:exon17:c.A1921G:p.T641A,ENSG00000054983:ENST00000393569:exon17:c.A1843G:p.T615A NA NA 14q31.3 NA NA NA NA rs421262 0.94 0.94 0.932 0.940695 1 0.9306 0.9841 0.8427 0.9918 1 0.94 0.99 0.81 0.9828 1 0.81 T 0.0 B 0.0 B 0.002 N 0.992 P . . -2.78 D -0.952 T 0.000 T 0.038 -0.677 1.048 -3.09 -0.659 0.519 10.781 -0.676776 NA 1 0.999394 0.872216 NA 0.942 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078197.1;CLNDSDB=.;CLNDSDBID=. 7.3511394 925 11 64085785 64085785 A G exonic PRDX5 NA nonsynonymous SNV PRDX5:NM_012094:exon1:c.A98G:p.Y33C,PRDX5:NM_181651:exon1:c.A98G:p.Y33C,PRDX5:NM_181652:exon1:c.A98G:p.Y33C exonic ENSG00000126432 NA nonsynonymous SNV ENSG00000126432:ENST00000265462:exon1:c.A98G:p.Y33C,ENSG00000126432:ENST00000347941:exon1:c.A98G:p.Y33C,ENSG00000126432:ENST00000352435:exon1:c.A98G:p.Y33C NA NA 11q13.1 NA Name=HEY1,GATA-1,TAF1,Pol2-4H8,Ini1,CTCF,Pol2,HA-E2F1,Pol2(b),Egr-1,CCNT2,ZBTB7A_(SC-34508),Mxi1_(bHLH),SRF NA NA rs7938623 0.95 0.95 0.949 0.938898 1 1 0.9813 0.7784 1 1 1 0.98 0.8 0.9832 1 0.18 T 0.045 B 0.017 B 0.000 N 1.000 P 0 N 0.95 T -0.954 T 0.000 T 0.106 1.067 9.356 -3.83 -1.213 -0.272 1.450 1.066643 NA 0.18 0.999185 0.809686 ID=COSM429533;OCCURENCE=1(breast) 0.942 NA 7.3509484 925 8 11301753 11301753 A C exonic FAM167A NA nonsynonymous SNV FAM167A:NM_053279:exon2:c.T168G:p.H56Q exonic ENSG00000154319 NA nonsynonymous SNV ENSG00000154319:ENST00000534308:exon1:c.T168G:p.H56Q,ENSG00000154319:ENST00000284486:exon2:c.T168G:p.H56Q,ENSG00000154319:ENST00000528897:exon2:c.T168G:p.H56Q,ENSG00000154319:ENST00000531804:exon4:c.T168G:p.H56Q Score=522;Name=lod=176 NA 8p23.1 Score=797;Name=V$XBP1_01 NA NA NA rs3021513 1 1 1 0.997804 0.996 1 0.9928 1 0.998 0.99 1 1 1 0.995 1 1 T 0.0 B 0.0 B 0.048 N 1.000 P -2.215 N 3.25 T -1.019 T 0.000 T 0.233 -0.428 2.005 2.03 -0.004 0.441 2.729 -0.42849 NA 1 0.991744 0.997957 NA 0.993 NA 7.3505894 925 5 131066725 131066725 C A exonic FNIP1 NA nonsynonymous SNV FNIP1:NM_001008738:exon3:c.G226T:p.G76C,FNIP1:NM_133372:exon3:c.G226T:p.G76C exonic ENSG00000217128 NA nonsynonymous SNV ENSG00000217128:ENST00000307968:exon3:c.G226T:p.G76C,ENSG00000217128:ENST00000510461:exon3:c.G226T:p.G76C,ENSG00000217128:ENST00000511848:exon3:c.G226T:p.G76C Score=557;Name=lod=244 NA 5q31.1 NA NA NA NA rs7730228 1 1 0.998 0.997804 0.992 0.999 1 0.9992 0.999 0.99 1 1 1 0.9957 1 0.27 T 0.0 B 0.0 B . . 0.000 P -0.345 N 0.97 T -0.974 T 0.000 T 0.238 -0.602 1.311 5.16 0.916 3.802 11.428 -0.602151 NA 0.71 0.995349 0.999546 NA 1 NA 7.3502844 925 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 925 3 3067850 3067850 A G exonic CNTN4 NA synonymous SNV CNTN4:NM_001206956:exon6:c.A567G:p.L189L,CNTN4:NM_175613:exon6:c.A567G:p.L189L,CNTN4:NM_001206955:exon14:c.A1551G:p.L517L,CNTN4:NM_175607:exon15:c.A1551G:p.L517L exonic ENSG00000144619 NA synonymous SNV ENSG00000144619:ENST00000448906:exon5:c.A567G:p.L189L,ENSG00000144619:ENST00000397459:exon6:c.A567G:p.L189L,ENSG00000144619:ENST00000358480:exon9:c.A894G:p.L298L,ENSG00000144619:ENST00000427331:exon12:c.A1551G:p.L517L,ENSG00000144619:ENST00000397461:exon14:c.A1551G:p.L517L,ENSG00000144619:ENST00000418658:exon15:c.A1551G:p.L517L Score=458;Name=lod=97 NA 3p26.2 Score=857;Name=V$SOX9_B1 NA NA NA rs7629924 0.14 0.14 0.145 0.154353 0.1034 0.1022 0.1484 0.298 0.0706 0.09 0.08 0.16 0.28 0.1129 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.13916 NA NA 0.100233 0.279846 NA 0.109 NA 7.3501336 925 19 35991442 35991442 T G exonic DMKN NA nonsynonymous SNV DMKN:NM_001035516:exon2:c.A122C:p.D41A,DMKN:NM_001126059:exon8:c.A419C:p.D140A,DMKN:NM_001190347:exon12:c.A1157C:p.D386A,DMKN:NM_033317:exon12:c.A1280C:p.D427A,DMKN:NM_001126056:exon14:c.A1247C:p.D416A exonic ENSG00000161249 NA nonsynonymous SNV ENSG00000161249:ENST00000408915:exon2:c.A122C:p.D41A,ENSG00000161249:ENST00000492341:exon6:c.A221C:p.D74A,ENSG00000161249:ENST00000597212:exon6:c.A308C:p.D103A,ENSG00000161249:ENST00000436012:exon7:c.A368C:p.D123A,ENSG00000161249:ENST00000472252:exon7:c.A221C:p.D74A,ENSG00000161249:ENST00000480502:exon7:c.A362C:p.D121A,ENSG00000161249:ENST00000602679:exon7:c.A221C:p.D74A,ENSG00000161249:ENST00000402589:exon8:c.A419C:p.D140A,ENSG00000161249:ENST00000414866:exon8:c.A419C:p.D140A,ENSG00000161249:ENST00000602781:exon8:c.A419C:p.D140A,ENSG00000161249:ENST00000467637:exon9:c.A455C:p.D152A,ENSG00000161249:ENST00000443640:exon11:c.A569C:p.D190A,ENSG00000161249:ENST00000339686:exon12:c.A1280C:p.D427A,ENSG00000161249:ENST00000429837:exon12:c.A1157C:p.D386A,ENSG00000161249:ENST00000419602:exon14:c.A1247C:p.D416A NA NA 19q13.12 NA NA NA NA rs909072 1 1 0.999 0.998403 0.996 1 0.9957 1 0.999 1 1 0.99 1 0.9956 1 1 T 0.0 B 0.0 B 0.022 N 1.000 P -1.65 N 2.32 T -0.972 T 0.000 T 0.498 -0.623 1.234 4.11 1.085 1.674 9.445 -0.623346 NA 1 0.991628 0.999092 NA 0.993 NA 7.3501054 925 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 925 4 185587165 185587165 A G exonic CCDC111 NA nonsynonymous SNV CCDC111:NM_152683:exon6:c.A503G:p.Q168R exonic ENSG00000164306 NA nonsynonymous SNV ENSG00000164306:ENST00000515774:exon5:c.A116G:p.Q39R,ENSG00000164306:ENST00000314970:exon6:c.A503G:p.Q168R,ENSG00000164306:ENST00000503752:exon6:c.A503G:p.Q168R,ENSG00000164306:ENST00000512834:exon6:c.A503G:p.Q168R Score=512;Name=lod=160 NA 4q35.1 NA NA NA NA rs2463447 0.97 0.97 0.976 0.966853 0.999 1 0.9899 0.8805 1 1 1 0.99 0.9 0.9873 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.79 N 1.79 T -0.945 T 0.000 T 0.177 0.428 6.325 5.08 0.879 1.883 12.988 0.428059 NA 1 0.997093 0.885384 NA 0.957 NA 7.3499404 925 10 5415954 5415954 A G exonic UCN3 NA nonsynonymous SNV UCN3:NM_053049:exon2:c.A271G:p.R91G exonic ENSG00000178473 NA nonsynonymous SNV ENSG00000178473:ENST00000380433:exon2:c.A271G:p.R91G NA NA 10p15.1 NA NA NA NA rs10904481 0.4 0.4 0.371 0.445887 0.3121 0.5546 0.5476 0.3268 0.5603 0.31 0.53 0.49 0.33 0.3756 0.53 1 T 0.0 B 0.0 B 0.112 N 1.000 P -1.04 N 1.63 T -0.910 T 0.000 T 0.033 -2.184 0.005 2.52 0.009 . 6.604 -2.183623 NA 0.83 0.295814 0.338255 NA 0.297 NA 7.3498194 925 12 53700860 53700860 A G exonic C12orf10 NA nonsynonymous SNV C12orf10:NM_021640:exon7:c.A1058G:p.H353R exonic ENSG00000139637 NA nonsynonymous SNV ENSG00000139637:ENST00000549488:exon5:c.A569G:p.H190R,ENSG00000139637:ENST00000548632:exon6:c.A833G:p.H278R,ENSG00000139637:ENST00000267103:exon7:c.A1058G:p.H353R Score=664;Name=lod=664 NA 12q13.13 Score=1000;Name=V$AML1_01 NA NA NA rs711316 0.95 0.95 0.939 0.949681 1 1 0.9914 0.8139 1 1 1 0.99 0.78 0.984 1 0.4 T 0.0 B 0.0 B 0.143 N 1.000 P -1.355 N 1.08 T -0.946 T 0.000 T 0.344 1.637 11.43 -2.92 -0.831 -0.443 13.828 1.636886 1.636886 0.7 0.999535 0.823196 NA 0.928 NA 7.3497984 925 5 140048267 140048267 T C exonic WDR55 NA nonsynonymous SNV WDR55:NM_017706:exon4:c.T451C:p.C151R exonic ENSG00000120314 NA nonsynonymous SNV ENSG00000120314:ENST00000358337:exon4:c.T451C:p.C151R Score=489;Name=lod=129 NA 5q31.3 NA NA NA NA rs2530245 0.96 0.96 0.944 0.952276 0.998 1 0.9856 0.8283 1 1 1 0.99 0.81 0.9862 1 0.96 T 0.0 B 0.0 B 1.000 U 0.829 P -1.63 N 1.81 T -0.995 T 0.000 T 0.194 -0.945 0.351 3.5 0.626 1.238 5.495 -0.944726 NA 0.42 0.999419 0.854744 NA 0.949 NA 7.3497144 925 17 7386055 7386055 C T exonic SLC35G6 NA nonsynonymous SNV SLC35G6:NM_001102614:exon2:c.C752T:p.P251L exonic ENSG00000259224 NA nonsynonymous SNV ENSG00000259224:ENST00000412468:exon2:c.C752T:p.P251L Score=378;Name=lod=46 NA 17p13.1 NA NA NA NA rs4491591 0.96 0.96 0.955 0.948682 1 1 0.9798 0.8207 0.9939 1 1 0.98 0.83 0.9847 1 0.56 T 0.0 B 0.0 B . . 0.000 P -1.61 N 0.79 T -0.987 T 0.000 T 0.086 -0.556 1.487 4.06 0.559 2.175 4.561 -0.555603 NA 0.24 0.998953 0.849523 NA 0.899 NA 7.3496804 925 17 6406883 6406883 C T exonic PITPNM3 NA nonsynonymous SNV PITPNM3:NM_001165966:exon3:c.G130A:p.A44T,PITPNM3:NM_031220:exon4:c.G238A:p.A80T exonic ENSG00000091622 NA nonsynonymous SNV ENSG00000091622:ENST00000421306:exon3:c.G130A:p.A44T,ENSG00000091622:ENST00000262483:exon4:c.G238A:p.A80T NA NA 17p13.2 NA NA NA NA rs3809835 0.29 0.29 0.303 0.273562 0.3618 0.252 0.1988 0.2927 0.2321 0.36 0.26 0.22 0.26 0.2859 0.36 0.75 T 0.002 B 0.003 B 0.974 N 1.000 P 0.55 N 2.1 T -0.943 T 0.000 T 0.025 1.081 9.413 -1.55 -0.243 -1.150 7.236 1.080943 NA 0.44 0.336047 0.277803 NA 0.268 NA 7.3495864 925 21 43221483 43221483 A G exonic PRDM15 NA nonsynonymous SNV PRDM15:NM_001040424:exon24:c.T3454C:p.S1152P,PRDM15:NM_022115:exon31:c.T4441C:p.S1481P exonic ENSG00000141956 NA nonsynonymous SNV ENSG00000141956:ENST00000447207:exon23:c.T3343C:p.S1115P,ENSG00000141956:ENST00000398548:exon24:c.T3454C:p.S1152P,ENSG00000141956:ENST00000447016:exon24:c.T3343C:p.S1115P,ENSG00000141956:ENST00000422911:exon25:c.T3514C:p.S1172P,ENSG00000141956:ENST00000538201:exon25:c.T3403C:p.S1135P,ENSG00000141956:ENST00000269844:exon31:c.T4441C:p.S1481P,ENSG00000141956:ENST00000433067:exon31:c.T4441C:p.S1481P Score=329;Name=lod=29 NA 21q22.3 NA NA NA NA rs3850706 1 1 0.997 0.998403 0.994 1 0.9971 1 1 0.99 1 1 1 0.997 1 1 T 0.0 B 0.0 B . . 1.000 P -0.695 N 3.22 T -0.980 T 0.000 T 0.1 -1.645 0.013 3.3 0.346 2.113 8.788 -1.64534 NA 0.43 0.993256 0.998184 NA 0.906 NA 7.3490774 925 11 17434284 17434284 G A exonic ABCC8 NA synonymous SNV ABCC8:NM_000352:exon21:c.C2485T:p.L829L exonic ENSG00000006071 NA synonymous SNV ENSG00000006071:ENST00000302539:exon21:c.C2488T:p.L830L,ENSG00000006071:ENST00000389817:exon21:c.C2485T:p.L829L,ENSG00000006071:ENST00000527905:exon21:c.C2455T:p.L819L Score=553;Name=lod=236 NA 11p15.1 Score=894;Name=V$CDPCR3HD_01 NA NA NA rs1805036 0.1 0.1 0.108 0.120208 0.0954 0.0208 0.0591 0.289 0.0634 0.09 0.02 0.07 0.24 0.1251 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.35932 1.35932 NA 0.097135 0.252273 NA 0.123 NA 7.3490316 925 3 56627598 56627598 A G exonic CCDC66 NA nonsynonymous SNV CCDC66:NM_001012506:exon9:c.A1046G:p.Q349R,CCDC66:NM_001141947:exon9:c.A1148G:p.Q383R exonic ENSG00000180376 NA nonsynonymous SNV ENSG00000180376:ENST00000422222:exon8:c.A1016G:p.Q339R,ENSG00000180376:ENST00000326595:exon9:c.A1046G:p.Q349R,ENSG00000180376:ENST00000394672:exon9:c.A1148G:p.Q383R,ENSG00000180376:ENST00000436465:exon9:c.A1148G:p.Q383R NA NA 3p14.3 NA NA Name=6 NA rs1491170 0.96 0.96 0.954 0.960264 0.998 1 0.9798 0.8616 1 1 1 0.98 0.85 0.9873 1 0.74 T 0.0 B 0.0 B 0.450 N 1.000 P 0.11 N 1.97 T -1.042 T 0.000 T 0.131 -1.506 0.017 -7.35 -2.692 -0.465 11.374 -1.505928 NA 0.78 0.99907 0.866319 NA 0.928 NA 7.3489634 925 1 31346199 31346199 G A exonic SDC3 NA synonymous SNV SDC3:NM_014654:exon5:c.C1188T:p.G396G exonic ENSG00000162512 NA synonymous SNV ENSG00000162512:ENST00000336798:exon3:c.C1014T:p.G338G,ENSG00000162512:ENST00000339394:exon5:c.C1188T:p.G396G Score=556;Name=lod=242 NA 1p35.2 Score=791;Name=V$YY1_02 NA NA NA rs1539360 0.07 0.07 0.061 0.0593051 0.1133 0.0754 0.0519 0.0045 0.0665 0.11 0.06 0.06 0.01 0.0905 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.627362 1.627362 NA 0.113953 0.024512 NA 0.051 NA 7.3489136 925 17 42030531 42030531 G C exonic PYY NA nonsynonymous SNV PYY:NM_004160:exon6:c.C215G:p.T72R exonic ENSG00000131096 NA nonsynonymous SNV ENSG00000131096:ENST00000592796:exon3:c.C215G:p.T72R,ENSG00000131096:ENST00000360085:exon6:c.C215G:p.T72R NA NA 17q21.31 NA Name=SP1,TAF1 Name=5 NA rs1058046 0.53 0.53 0.486 0.54373 0.6909 0.3343 0.5519 0.4508 0.728 0.7 0.32 0.61 0.48 0.6288 0.7 0.07 T 0.089 B 0.029 B . . 1.000 P . . 2.49 T -1.049 T 0.000 T 0.064 1.561 11.17 1.58 0.211 0.144 5.989 1.56059 1.56059 0.06 0.664767 0.451613 NA 0.652 NA 7.3488664 925 17 38024626 38024626 C T exonic ZPBP2 NA synonymous SNV ZPBP2:NM_198844:exon1:c.C19T:p.L7L,ZPBP2:NM_199321:exon1:c.C19T:p.L7L exonic ENSG00000186075 NA synonymous SNV ENSG00000186075:ENST00000348931:exon1:c.C19T:p.L7L,ENSG00000186075:ENST00000377940:exon1:c.C19T:p.L7L,ENSG00000186075:ENST00000583811:exon1:c.C19T:p.L7L,ENSG00000186075:ENST00000584588:exon1:c.C19T:p.L7L Score=428;Name=lod=73 NA 17q12 Score=709;Name=V$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 925 8 145150832 145150832 A G exonic CYC1 NA nonsynonymous SNV CYC1:NM_001916:exon2:c.A226G:p.M76V exonic ENSG00000179091 NA nonsynonymous SNV ENSG00000179091:ENST00000318911:exon2:c.A226G:p.M76V NA NA 8q24.3 NA Name=Pol2,Pol2-4H8 Name=146 NA rs7820984 0.97 0.97 0.97 0.962859 0.998 1 0.9928 0.8646 1 1 1 0.99 0.87 0.9876 1 0.4 T 0.0 B 0.0 B 0.002 N 1.000 P -1.1 N 1.72 T -1.018 T 0.000 T 0.091 -1.58 0.014 2.5 0.134 0.257 4.656 -1.579812 NA 0.62 0.998953 0.869664 NA 0.986 NA 7.3487804 925 15 42149596 42149596 C G exonic SPTBN5 NA nonsynonymous SNV SPTBN5:NM_016642:exon51:c.G8461C:p.G2821R exonic ENSG00000137877 NA nonsynonymous SNV ENSG00000137877:ENST00000320955:exon51:c.G8461C:p.G2821R NA NA 15q15.1 NA NA NA NA rs1197675 0.23 0.23 0.228 0.253594 0.333 0.0377 0.2133 0.3812 0.2505 0.32 0.02 0.22 0.34 0.3473 0.34 0.56 T 0.29 B 0.139 B 0.655 N 1.000 P 0.835 L 0.69 T -0.955 T 0.000 T 0.057 -1.085 0.157 2.42 0.443 0.435 3.84 -1.085141 NA 0.56 0.304291 0.339286 NA 0.275 NA 7.3487424 925 4 187519206 187519206 C G exonic FAT1 NA nonsynonymous SNV FAT1:NM_005245:exon23:c.G12177C:p.K4059N exonic ENSG00000083857 NA nonsynonymous SNV ENSG00000083857:ENST00000441802:exon23:c.G12177C:p.K4059N Score=460;Name=lod=99 NA 4q35.2 NA NA Name=4 NA rs1280097 1 1 1 0.997404 0.996 1 0.9971 1 0.9928 1 1 1 1 0.9953 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.045 N -2.25 D -0.950 T 0.000 T 0.058 -1.52 0.016 -0.147 -0.151 0.299 8.460 -1.519886 NA 1 0.993591 0.998695 NA 1 NA 7.3484424 925 17 41133071 41133071 T C exonic RUNDC1 NA nonsynonymous SNV RUNDC1:NM_173079:exon1:c.T478C:p.W160R exonic ENSG00000198863 NA nonsynonymous SNV ENSG00000198863:ENST00000361677:exon1:c.T478C:p.W160R Score=410;Name=lod=62 NA 17q21.31 Score=827;Name=V$PAX4_01 Name=CTCF,E2F6,Ini1,ZNF263 NA NA rs1708875 0.95 0.95 0.939 0.926917 1 1 0.9784 0.7345 1 1 1 0.98 0.79 0.9866 1 0.73 T 0.0 B 0.0 B 0.363 N 1.000 P -0.69 N -0.4 T -0.996 T 0.000 T 0.059 -0.386 2.188 1.47 0.237 -0.234 6.077 -0.385999 NA 0.43 0.998623 0.815861 NA 0.87 NA 7.3481104 925 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 925 19 44470663 44470663 G C exonic ZNF221 NA nonsynonymous SNV ZNF221:NM_013359:exon6:c.G1009C:p.A337P exonic ENSG00000159905 NA nonsynonymous SNV ENSG00000159905:ENST00000587682:exon5:c.G1009C:p.A337P,ENSG00000159905:ENST00000251269:exon6:c.G1009C:p.A337P,ENSG00000159905:ENST00000592350:exon6:c.G1009C:p.A337P Score=329;Name=lod=29 NA 19q13.31 NA Name=SETDB1 NA NA rs435590 0.96 0.96 0.953 0.958267 1 1 0.9827 0.851 1 1 1 0.98 0.83 0.9869 1 1 T 0.0 B 0.0 B . . 1.000 P -2.1 N 2.9 T -1.021 T 0.000 T 0.141 -0.255 2.773 -0.069 -0.005 2.949 6.959 -0.255343 NA 1 0.998837 0.868588 NA 0.942 NA 7.3475964 925 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 925 10 64945364 64945364 G A exonic JMJD1C NA synonymous SNV JMJD1C:NM_004241:exon17:c.C6078T:p.D2026D,JMJD1C:NM_032776:exon20:c.C6789T:p.D2263D exonic ENSG00000171988 NA synonymous SNV ENSG00000171988:ENST00000402544:exon17:c.C6078T:p.D2026D,ENSG00000171988:ENST00000542921:exon19:c.C6243T:p.D2081D,ENSG00000171988:ENST00000399262:exon20:c.C6789T:p.D2263D Score=627;Name=lod=470 NA 10q21.3 NA NA NA NA rs3211105 0.61 0.61 0.593 0.58107 0.7962 0.6369 0.5389 0.3139 0.6933 0.8 0.61 0.61 0.31 0.7198 0.8 . . . . . . . . 0.000 P . . . . -1.067 T 0.000 T . 0.718 7.822 -7.74 -1.694 -0.379 21.745 0.718083 NA NA 0.803427 0.41977 NA 0.558 NA 7.3472396 925 7 48315796 48315796 C A exonic ABCA13 NA nonsynonymous SNV ABCA13:NM_152701:exon17:c.C6533A:p.A2178E exonic ENSG00000179869 NA nonsynonymous SNV ENSG00000179869:ENST00000435803:exon17:c.C6533A:p.A2178E NA NA 7p12.3 NA NA NA NA rs1880736 0.78 0.78 0.785 0.812899 0.6083 0.9881 0.7954 0.8457 0.8108 0.59 0.99 0.78 0.83 0.733 0.99 . . 0.0 B 0.0 B 0.015 N 1.000 P -1.905 N 3.62 T -0.982 T 0.000 T 0.026 -1.937 0.007 4.99 0.852 1.125 10.352 -1.936584 NA 1 0.644879 0.81465 NA 0.841 NA 7.3471544 925 2 160019863 160019863 A G exonic TANC1 NA nonsynonymous SNV TANC1:NM_001145909:exon8:c.A749G:p.N250S,TANC1:NM_033394:exon8:c.A752G:p.N251S exonic ENSG00000115183 NA nonsynonymous SNV ENSG00000115183:ENST00000454300:exon6:c.A434G:p.N145S,ENSG00000115183:ENST00000263635:exon8:c.A752G:p.N251S Score=662;Name=lod=654 NA 2q24.2 NA NA NA NA rs12466551 0.98 0.98 0.982 0.979832 0.998 1 0.9957 0.9501 0.9693 1 1 0.99 0.94 0.9907 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.87 N 1.24 T -0.933 T 0.000 T 0.018 0.678 7.626 5.16 0.900 5.573 12.987 0.677794 NA 1 0.997569 0.965165 NA 0.993 NA 7.3470644 925 11 57148175 57148175 A G exonic PRG3 NA nonsynonymous SNV PRG3:NM_006093:exon2:c.T7C:p.C3R exonic ENSG00000156575 NA nonsynonymous SNV ENSG00000156575:ENST00000287143:exon2:c.T7C:p.C3R NA NA 11q12.1 NA NA NA NA rs669661 0.96 0.96 0.953 0.957867 1 0.996 0.9841 0.8593 0.9898 1 1 0.98 0.85 0.9874 1 0.8 T 0.0 B 0.0 B 0.000 N 1.000 P 1.39 L 3.72 T -0.974 T 0.000 T 0.042 2.287 13.61 -5.95 -2.247 -1.016 3.217 2.287376 2.287376 0.16 0.998953 0.867045 NA 0.949 NA 7.3469804 925 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 925 5 76128521 76128521 G A exonic F2RL1 NA nonsynonymous SNV F2RL1:NM_005242:exon2:c.G89A:p.S30N exonic ENSG00000164251 NA nonsynonymous SNV ENSG00000164251:ENST00000296677:exon2:c.G89A:p.S30N NA NA 5q13.3 NA NA NA NA rs616235 0.96 0.96 0.963 0.965455 1 0.8333 1 1 0.9949 1 0.84 1 1 0.9869 1 1 T . . . . 0.007 N 1.000 P . . -0.6 T -0.922 T 0.000 T 0.023 -0.436 1.975 -5.18 -1.078 -1.604 13.263 -0.435653 NA 1 0.999884 0.998184 NA 0.978 NA 7.3465494 925 9 35546735 35546735 A G exonic RUSC2 NA nonsynonymous SNV RUSC2:NM_001135999:exon2:c.A217G:p.T73A,RUSC2:NM_014806:exon2:c.A217G:p.T73A exonic ENSG00000198853 NA nonsynonymous SNV ENSG00000198853:ENST00000361226:exon2:c.A217G:p.T73A,ENSG00000198853:ENST00000455600:exon2:c.A217G:p.T73A Score=429;Name=lod=74 NA 9p13.3 NA NA NA NA rs1535422 0.98 0.98 0.969 0.965056 1 1 0.9697 0.8835 1 1 1 0.98 0.9 0.9878 1 1 T 0.0 B 0.0 B 0.002 N 1.000 P -0.255 N 2.01 T -0.951 T 0.000 T 0.077 -2.385 0.004 2.76 0.062 2.411 5.382 -2.384858 NA 1 0.999302 0.870858 NA 0.942 NA 7.3462314 925 19 44535999 44535999 G T exonic ZNF222 NA nonsynonymous SNV ZNF222:NM_001129996:exon4:c.G292T:p.V98F,ZNF222:NM_013360:exon4:c.G172T:p.V58F exonic ENSG00000159885 NA nonsynonymous SNV ENSG00000159885:ENST00000187879:exon4:c.G172T:p.V58F,ENSG00000159885:ENST00000391960:exon4:c.G292T:p.V98F NA NA 19q13.31 NA NA NA NA rs7258517 0.43 0.43 0.41 0.416134 0.7068 0.2897 0.3559 0.1543 0.6442 0.72 0.32 0.42 0.14 0.5837 0.72 0.72 T 0.043 B 0.033 B . . 1.000 P -0.49 N 3.4 T -1.032 T 0.000 T 0.063 1.563 11.18 -3.06 -0.521 -3.161 4.319 1.563133 1.563133 0.16 0.696628 0.244666 NA 0.493 NA 7.3462054 925 1 155837865 155837865 G C exonic SYT11 NA nonsynonymous SNV SYT11:NM_152280:exon2:c.G144C:p.Q48H exonic ENSG00000132718 NA nonsynonymous SNV ENSG00000132718:ENST00000368324:exon2:c.G144C:p.Q48H Score=514;Name=lod=163 NA 1q22 NA NA NA NA rs822522 0.96 0.96 0.955 0.954673 1 1 0.9827 0.8374 1 1 1 0.98 0.85 0.988 1 0.64 T 0.0 B 0.0 B 0.000 N 0.000 P -0.345 N 0.91 T -0.978 T 0.015 T 0.072 0.042 4.233 3.65 0.316 1.147 7.439 0.042072 NA 0.8 0.999651 0.867227 NA 0.978 NA 7.3456824 926 10 69571336 69571336 G A exonic DNAJC12 NA synonymous SNV DNAJC12:NM_021800:exon3:c.C243T:p.S81S,DNAJC12:NM_201262:exon3:c.C243T:p.S81S exonic ENSG00000108176 NA synonymous SNV ENSG00000108176:ENST00000225171:exon3:c.C243T:p.S81S,ENSG00000108176:ENST00000339758:exon3:c.C243T:p.S81S,ENSG00000108176:ENST00000483798:exon4:c.C333T:p.S111S Score=603;Name=lod=377 NA 10q21.3 Score=872;Name=V$ZID_01,V$TAL1BETAITF2_01 NA NA NA rs3740049 0.15 0.15 0.13 0.138379 0.1024 0.3155 0.1455 0.028 0.137 0.1 0.34 0.14 0.03 0.1258 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.331095 1.331095 NA 0.093605 0.041534 NA 0.116 NA 7.3448616 926 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 926 19 51411636 51411636 G T exonic KLK4 NA nonsynonymous SNV KLK4:NM_004917:exon4:c.C591A:p.H197Q exonic ENSG00000167749 NA nonsynonymous SNV ENSG00000167749:ENST00000324041:exon4:c.C591A:p.H197Q NA NA 19q13.41 NA NA NA NA rs2569527 1 1 0.999 0.998403 0.997 1 0.9971 1 0.9969 1 1 0.99 1 0.9962 1 0.76 T 0.0 B 0.0 B 0.638 N 1.000 P -0.79 N -3.06 D -1.012 T 0.000 T 0.045 -0.969 0.309 -4.43 -1.112 -0.543 8.110 -0.969257 NA 0.68 0.995698 0.999546 NA 0.986 NA 7.3444354 926 19 8196444 8196444 C T exonic FBN3 NA nonsynonymous SNV FBN3:NM_032447:exon14:c.G1984A:p.D662N exonic ENSG00000142449 NA nonsynonymous SNV ENSG00000142449:ENST00000270509:exon14:c.G1984A:p.D662N,ENSG00000142449:ENST00000600128:exon15:c.G1984A:p.D662N,ENSG00000142449:ENST00000601739:exon15:c.G1984A:p.D662N Score=534;Name=lod=198 NA 19p13.2 NA NA NA NA rs4804271 0.99 0.99 0.991 0.988019 0.997 0.9772 0.9986 0.9887 0.9816 1 0.98 1 0.98 0.9936 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.455 N -2.95 D -0.942 T 0.000 T 0.016 -1.853 0.009 0.834 -0.704 1.127 7.239 -1.852597 NA 1 0.998372 0.98956 NA 0.993 NA 7.3443614 926 1 113255389 113255389 C T exonic PPM1J NA nonsynonymous SNV PPM1J:NM_005167:exon3:c.G706A:p.V236I exonic ENSG00000155367 NA nonsynonymous SNV ENSG00000155367:ENST00000359994:exon2:c.G88A:p.V30I,ENSG00000155367:ENST00000309276:exon3:c.G706A:p.V236I,ENSG00000155367:ENST00000464951:exon4:c.G88A:p.V30I Score=616;Name=lod=427 NA 1p13.2 NA NA NA NA rs10857971 0.97 0.97 0.972 0.967851 1 1 0.9899 0.8835 1 1 1 0.99 0.88 0.9897 1 0.6 T 0.002 B 0.001 B 0.000 N 1.000 P -1.54 N 2.44 T -0.920 T 0.004 T 0.096 1.334 10.38 4.72 0.486 2.579 10.051 1.333652 1.333652 0.4 0.999651 0.885157 NA 0.971 NA 7.3439824 926 12 53686703 53686703 G A exonic ESPL1 NA nonsynonymous SNV ESPL1:NM_012291:exon30:c.G6110A:p.R2037H exonic ENSG00000135476 NA nonsynonymous SNV ENSG00000135476:ENST00000257934:exon30:c.G6110A:p.R2037H,ENSG00000135476:ENST00000552462:exon30:c.G6110A:p.R2037H Score=570;Name=lod=277 NA 12q13.13 NA NA NA NA rs1056685 0.97 0.97 0.957 0.969449 1 1 0.9942 0.8873 1 1 1 1 0.87 0.9899 1 0.53 T 0.004 B 0.005 B 0.000 N 0.871 P -0.325 N 2.75 T -0.997 T 0.000 T 0.081 0.225 5.213 2.61 0.331 2.278 7.827 0.224744 NA 0.39 0.999535 0.89764 NA 0.949 NA 7.3438984 926 11 18195051 18195051 T C exonic MRGPRX4 NA nonsynonymous SNV MRGPRX4:NM_054032:exon1:c.T248C:p.L83S exonic ENSG00000179817 NA nonsynonymous SNV ENSG00000179817:ENST00000314254:exon1:c.T248C:p.L83S NA NA 11p15.1 NA Name=PU.1 NA NA rs2445179 0.97 0.97 0.965 0.965655 1 1 0.9914 0.8744 1 1 1 0.99 0.87 0.9904 1 0.45 T 0.0 B 0.001 B 0.736 N 1.000 P -1.58 N 3.48 T -1.036 T 0.000 T 0.093 -1.995 0.007 -1.84 -1.116 -2.958 4.089 -1.995056 NA 0.91 0.999068 0.899955 NA 0.949 NA 7.3438654 926 19 603832 603832 C T exonic HCN2 NA synonymous SNV HCN2:NM_001194:exon2:c.C921T:p.I307I exonic ENSG00000099822 NA synonymous SNV ENSG00000099822:ENST00000251287:exon2:c.C921T:p.I307I Score=768;Name=lod=1761 NA 19p13.3 NA Name=ZBTB33 NA NA rs56180027 0.08 0.08 0.045 0.0810703 0.1083 0.0367 0.2478 0.0068 0.0808 0.11 0.03 0.2 0.01 0.1095 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.513624 NA NA 0.105024 0.022055 NA 0.043 NA 7.3438426 926 7 29152416 29152416 G A exonic CPVL NA synonymous SNV CPVL:NM_019029:exon3:c.C192T:p.G64G,CPVL:NM_031311:exon3:c.C192T:p.G64G exonic ENSG00000106066 NA synonymous SNV ENSG00000106066:ENST00000265394:exon3:c.C192T:p.G64G,ENSG00000106066:ENST00000396276:exon3:c.C192T:p.G64G,ENSG00000106066:ENST00000409850:exon7:c.C192T:p.G64G NA NA 7p14.3 Score=760;Name=V$STAT3_01 NA Name=3 NA rs2011337 0.11 0.11 0.117 0.0982428 0.0984 0.0337 0.085 0.2171 0.0133 0.1 0.02 0.09 0.23 0.1065 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091703 NA NA 0.118256 0.193146 NA 0.116 NA 7.3435106 926 14 20528359 20528359 G T exonic OR4L1 NA nonsynonymous SNV OR4L1:NM_001004717:exon1:c.G156T:p.R52S exonic ENSG00000176246 NA nonsynonymous SNV ENSG00000176246:ENST00000315683:exon1:c.G156T:p.R52S NA NA 14q11.2 NA NA NA NA rs1959630 0.98 0.98 0.97 0.971246 0.999 1 0.9971 0.8933 1 1 1 1 0.9 0.9918 1 0.28 T 0.0 B 0.0 B 0.713 N 1.000 P -2.215 N 5.39 T -0.989 T 0.000 T 0.067 -0.335 2.414 -4.33 -1.457 -1.783 5.877 -0.334723 NA 0.06 0.99907 0.918293 NA 0.971 NA 7.3434634 926 11 55541098 55541098 G A exonic OR5D13 NA nonsynonymous SNV OR5D13:NM_001001967:exon1:c.G185A:p.C62Y exonic ENSG00000198877 NA nonsynonymous SNV ENSG00000198877:ENST00000361760:exon1:c.G185A:p.C62Y Score=385;Name=lod=49 NA 11q11 NA NA NA NA rs297118 0.97 0.97 0.966 0.971246 0.999 1 0.9899 0.8971 1 1 1 0.99 0.89 0.9918 1 1 T 0.0 B 0.0 B 0.008 N 1.000 P -3.86 N 6.31 T -1.014 T 0.000 T 0.064 -1.706 0.011 3.34 0.480 2.949 7.895 -1.705967 NA 1 0.999302 0.916591 NA 0.964 NA 7.3432314 926 17 5084763 5084763 G A UTR3 ZNF594 NM_032530:c.*365C>T NA NA UTR3 ENSG00000180626 ENST00000399604:c.*365C>T,ENST00000575779:c.*365C>T NA NA Score=395;Name=lod=54 NA 17p13.2 NA Name=KAP1,SETDB1 NA NA rs1689965 0.97 0.97 0.981 0.974441 0.997 1 0.9899 0.9107 1 0.99 0.99 0.97 0.91 0.9938 0.99 1 T . . . . . . 0.844 P . . . . -0.948 T 0.000 T . -0.521 1.623 -4.25 -2.671 0.008 0.175 -0.521071 NA 1 NA NA NA 0.986 NA 7.3425334 926 8 95888307 95888307 C T exonic INTS8 NA synonymous SNV INTS8:NM_017864:exon24:c.C2694T:p.A898A exonic ENSG00000164941 NA synonymous SNV ENSG00000164941:ENST00000447247:exon23:c.C2643T:p.A881A,ENSG00000164941:ENST00000523731:exon24:c.C2694T:p.A898A Score=634;Name=lod=501 NA 8q22.1 NA NA NA NA rs1129152 0.48 0.48 0.47 0.470048 0.4573 0.6528 0.5288 0.2511 0.5491 0.46 0.63 0.54 0.28 0.4544 0.63 . . . . . . . . 0.000 P . . . . -0.955 T 0.000 T . 0.918 8.736 3.32 0.526 -0.005 3.438 0.917867 NA NA 0.412634 0.273966 NA 0.42 NA 7.3423326 926 12 27849796 27849796 A G exonic REP15 NA nonsynonymous SNV REP15:NM_001029874:exon1:c.A301G:p.N101D exonic ENSG00000174236 NA nonsynonymous SNV ENSG00000174236:ENST00000310791:exon1:c.A301G:p.N101D NA NA 12p11.22 Score=809;Name=V$OCT1_01 NA NA NA rs929949 0.92 0.92 0.984 0.97484 1 1 0.9899 0.91 1 0.94 0.98 0.93 0.83 0.9917 1 1 T 0.0 B 0.0 B 0.028 N 1.000 P -1.845 N 1.79 T -0.973 T 0.000 T 0.037 1.916 12.36 3.0 0.680 1.924 9.710 1.916097 1.916097 1 0.999419 0.919655 NA 0.239 NA 7.3422144 926 6 55739553 55739553 A G exonic BMP5 NA synonymous SNV BMP5:NM_021073:exon1:c.T111C:p.S37S exonic ENSG00000112175 NA synonymous SNV ENSG00000112175:ENST00000370830:exon1:c.T111C:p.S37S,ENSG00000112175:ENST00000446683:exon1:c.T111C:p.S37S Score=745;Name=lod=1418 NA 6p12.1 Score=892;Name=V$RSRFC4_01 NA Name=4 NA rs3734444 0.42 0.42 0.402 0.435104 0.4592 0.1875 0.5259 0.6256 0.3436 0.45 0.17 0.51 0.61 0.4327 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.348542 NA NA 0.432674 0.603495 NA 0.384 NA 7.3420926 926 5 90119324 90119324 G A exonic GPR98 NA nonsynonymous SNV GPR98:NM_032119:exon76:c.G16279A:p.V5427M exonic ENSG00000164199 NA nonsynonymous SNV ENSG00000164199:ENST00000425867:exon12:c.G3262A:p.V1088M,ENSG00000164199:ENST00000405460:exon76:c.G16279A:p.V5427M NA NA 5q14.3 NA NA NA NA rs2438378 0.98 0.98 0.979 0.972244 1 1 0.9885 0.9009 1 1 1 0.99 0.9 0.992 1 . . 0.005 B 0.019 B 0.286 N 1.000 P 0.205 N 1.61 T -0.978 T 0.000 T 0.007 -0.014 3.942 -9.65 -2.004 -0.007 14.119 -0.01397 NA 0.26 0.999275 0.914042 NA 0.978 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039541.1;CLNDSDB=.;CLNDSDBID=. 7.3420584 926 11 32956244 32956244 A G exonic QSER1 NA nonsynonymous SNV QSER1:NM_001076786:exon4:c.A3053G:p.N1018S exonic ENSG00000060749 NA nonsynonymous SNV ENSG00000060749:ENST00000399302:exon4:c.A3053G:p.N1018S,ENSG00000060749:ENST00000527788:exon5:c.A2336G:p.N779S Score=507;Name=lod=154 NA 11p13 NA NA NA NA rs7940077 0.98 0.98 0.979 0.971845 1 1 0.9942 0.8964 1 1 1 0.99 0.94 0.9916 1 1 T 0.006 B 0.005 B 0.000 N 1.000 P -0.835 N 2.54 T -0.954 T 0.000 T 0.034 -1.975 0.007 4.92 0.826 2.816 6.584 -1.975152 NA 1 0.999879 0.91491 NA 0.986 NA 7.3418544 926 1 156705593 156705593 G C exonic RRNAD1 NA nonsynonymous SNV RRNAD1:NM_001142560:exon6:c.G713C:p.R238P,RRNAD1:NM_015997:exon7:c.G1198C:p.V400L exonic ENSG00000143303 NA nonsynonymous SNV ENSG00000143303:ENST00000476229:exon3:c.G344C:p.R115P,ENSG00000143303:ENST00000368218:exon6:c.G713C:p.R238P,ENSG00000143303:ENST00000368216:exon7:c.G1198C:p.V400L Score=587;Name=lod=324 NA 1q23.1 Score=745;Name=V$MYOGNF1_01 NA NA NA rs4311877 0.97 0.97 0.969 0.971046 1 1 0.9942 0.8933 1 1 1 1 0.89 0.9922 1 0.84 T 0.0 B 0.0 B 0.088 N 0.000 P -1.56 N 1.07 T -0.948 T 0.009 T 0.042 1.437 10.75 1.63 0.250 1.149 11.449 1.437195 1.437195 0.11 0.999419 0.920336 NA 0.942 NA 7.3417144 926 1 75036812 75036812 C T exonic C1orf173 NA nonsynonymous SNV C1orf173:NM_001002912:exon14:c.G4582A:p.V1528M exonic ENSG00000178965 NA nonsynonymous SNV ENSG00000178965:ENST00000326665:exon14:c.G4582A:p.V1528M NA NA 1p31.1 NA NA Name=6 NA rs9326116 0.98 0.98 0.982 0.97484 1 1 0.9957 0.907 1 1 1 1 0.92 0.9918 1 0.22 T 0.005 B 0.006 B . . 1.000 P 0 N 2.5 T -0.929 T 0.004 T 0.008 -0.262 2.743 -6.58 -1.938 -0.888 5.253 -0.261865 NA 0 0.999884 0.918293 NA 0.978 NA 7.3416494 926 2 202557702 202557702 C T exonic MPP4 NA nonsynonymous SNV MPP4:NM_033066:exon3:c.G130A:p.G44S exonic ENSG00000082126 NA nonsynonymous SNV ENSG00000082126:ENST00000447335:exon2:c.G130A:p.G44S,ENSG00000082126:ENST00000315506:exon3:c.G130A:p.G44S,ENSG00000082126:ENST00000359962:exon3:c.G130A:p.G44S,ENSG00000082126:ENST00000396886:exon3:c.G130A:p.G44S,ENSG00000082126:ENST00000409143:exon3:c.G130A:p.G44S,ENSG00000082126:ENST00000409474:exon3:c.G130A:p.G44S,ENSG00000082126:ENST00000409818:exon3:c.G169A:p.G57S,ENSG00000082126:ENST00000428900:exon3:c.G130A:p.G44S,ENSG00000082126:ENST00000602867:exon3:c.G169A:p.G57S Score=504;Name=lod=149 NA 2q33.1 NA NA NA NA rs6725443 0.98 0.98 0.982 0.97504 1 1 0.9928 0.9092 1 1 1 0.99 0.92 0.9924 1 0.78 T 0.007 B 0.003 B 0.000 N 1.000 P -0.695 N 3.71 T -0.987 T 0.000 T 0.224 1.138 9.639 3.92 0.476 1.686 7.107 1.138395 NA 0.55 0.999642 0.914464 NA 0.986 NA 7.3412914 926 12 104136316 104136316 C T exonic STAB2 NA synonymous SNV STAB2:NM_017564:exon56:c.C6015T:p.F2005F exonic ENSG00000136011 NA synonymous SNV ENSG00000136011:ENST00000388887:exon56:c.C6015T:p.F2005F Score=363;Name=lod=40 NA 12q23.3 NA NA Name=51 NA rs2292688 0.14 0.14 0.123 0.133986 0.0964 0.252 0.1787 0.0446 0.1401 0.1 0.27 0.17 0.05 0.1287 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.78659 NA NA 0.100581 0.049478 NA 0.072 NA 7.3409856 926 2 120388412 120388412 G A exonic PCDP1 NA nonsynonymous SNV PCDP1:NM_001271049:exon19:c.G1909A:p.V637I exonic ENSG00000163075 NA nonsynonymous SNV ENSG00000163075:ENST00000413369:exon19:c.G1909A:p.V637I,ENSG00000163075:ENST00000602047:exon20:c.G1051A:p.V351I NA NA 2q14.2 NA NA NA NA rs2272058 0.98 0.98 0.979 0.976238 1 0.9921 0.9928 0.9198 1 1 0.99 0.99 0.93 0.9926 1 0.64 T 0.0 B 0.001 B 0.873 N 1.000 P -0.235 N 1.59 T -1.032 T 0.000 T 0.093 -0.353 2.335 -8.37 -1.830 -0.956 10.788 -0.352547 NA 0.77 0.999767 0.933273 NA 0.971 NA 7.3409664 926 1 22207235 22207235 T C exonic HSPG2 NA nonsynonymous SNV HSPG2:NM_005529:exon15:c.A1912G:p.M638V exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000374695:exon15:c.A1912G:p.M638V Score=325;Name=lod=28 NA 1p36.12 NA NA NA NA rs1874792 0.98 0.98 0.977 0.973642 1 1 0.9928 0.9039 1 1 1 0.99 0.92 0.9931 1 1 T 0.0 B 0.0 B 0.062 N 1.000 P -1.955 N 1.34 T -0.979 T 0.000 T 0.016 -1.669 0.012 3.56 0.707 1.555 7.569 -1.669374 NA 1 0.999418 0.929157 NA 0.942 NA 7.3408154 926 18 2539016 2539016 C G exonic METTL4 NA nonsynonymous SNV METTL4:NM_022840:exon9:c.G1402C:p.V468L exonic ENSG00000101574 NA nonsynonymous SNV ENSG00000101574:ENST00000574538:exon9:c.G1402C:p.V468L Score=412;Name=lod=63 NA 18p11.32 NA NA Name=39 NA rs8084295 0.98 0.98 0.977 0.973642 1 1 0.987 0.907 1 1 1 0.99 0.91 0.9934 1 1 T 0.0 B 0.0 B 0.117 N 0.998 P -1.495 N . . -0.985 T 0.000 T 0.04 -1.763 0.01 2.45 0.610 -0.312 5.919 -1.762986 NA NA 0.999535 0.931911 NA 0.986 NA 7.3403984 926 17 41165493 41165493 A G exonic IFI35 NA nonsynonymous SNV IFI35:NM_005533:exon5:c.A382G:p.M128V exonic ENSG00000068079 NA nonsynonymous SNV ENSG00000068079:ENST00000415816:exon5:c.A376G:p.M126V,ENSG00000068079:ENST00000438323:exon5:c.A382G:p.M128V Score=349;Name=lod=35 NA 17q21.31 NA NA NA NA rs588703 0.98 0.98 0.989 0.975439 1 1 0.9856 0.9145 1 1 1 0.98 0.94 0.9935 1 . . . . . . 0.003 N 0.998 P -1.86 N 1.39 T -0.971 T 0.000 T 0.046 0.058 4.318 4.12 0.747 1.204 7.35 0.058402 NA 0.39 0.999767 0.929187 NA 0.978 NA 7.3400664 926 6 167571048 167571048 T C exonic GPR31 NA nonsynonymous SNV GPR31:NM_005299:exon1:c.A272G:p.H91R exonic ENSG00000120436 NA nonsynonymous SNV ENSG00000120436:ENST00000366834:exon1:c.A272G:p.H91R NA NA 6q27 Score=735;Name=V$MYOGNF1_01 NA NA NA rs6902566 0.99 0.99 0.99 0.986621 0.998 1 0.9971 0.9523 1 1 1 1 0.96 0.9959 1 0.22 T 0.013 B 0.038 B 0.693 N 1.000 P 0.55 N 1.23 T -1.013 T 0.015 T 0.014 0.265 5.431 -6.81 -1.961 0.737 3.436 0.264669 NA 0.12 0.999651 0.957006 NA 0.326 NA 7.3397824 926 9 127674200 127674200 A C exonic GOLGA1 NA nonsynonymous SNV GOLGA1:NM_002077:exon11:c.T949G:p.L317V exonic ENSG00000136935 NA nonsynonymous SNV ENSG00000136935:ENST00000485337:exon3:c.T277G:p.L93V,ENSG00000136935:ENST00000373555:exon11:c.T949G:p.L317V NA NA 9q33.3 NA NA NA NA rs583134 0.99 0.99 0.989 0.982827 1 1 0.9914 0.9395 1 1 1 0.99 0.96 0.9943 1 0.65 T 0.0 B 0.0 B 0.001 N 1.000 P -1.335 N -1.6 D -0.970 T 0.000 T 0.164 -2.33 0.004 2.92 0.077 1.139 4.706 -2.329912 NA 1 0.999535 0.93872 NA 0.993 NA 7.3394984 926 10 95262981 95262981 A G exonic CEP55 NA nonsynonymous SNV CEP55:NM_001127182:exon3:c.A295G:p.T99A,CEP55:NM_018131:exon3:c.A295G:p.T99A exonic ENSG00000138180 NA nonsynonymous SNV ENSG00000138180:ENST00000371485:exon3:c.A295G:p.T99A NA NA 10q23.33 NA Name=TCF12 Name=28 NA rs7080916 0.99 0.99 0.988 0.983027 0.999 1 0.9914 0.941 1 1 1 0.99 0.96 0.9952 1 0.58 T 0.0 B 0.0 B 0.097 N 1.000 P -0.41 N 2.49 T -1.041 T 0.000 T 0.029 -1.2 0.072 -3.01 -0.728 -0.362 5.847 -1.200023 NA 0.45 0.999767 0.953473 NA 0.964 NA 7.3393664 926 5 137259179 137259179 T C exonic PKD2L2 NA nonsynonymous SNV PKD2L2:NM_001258449:exon8:c.T1217C:p.L406P,PKD2L2:NM_001258448:exon10:c.T1454C:p.L485P,PKD2L2:NM_014386:exon10:c.T1520C:p.L507P exonic ENSG00000078795 NA nonsynonymous SNV ENSG00000078795:ENST00000508638:exon8:c.T1217C:p.L406P,ENSG00000078795:ENST00000350250:exon9:c.T1418C:p.L473P,ENSG00000078795:ENST00000290431:exon10:c.T1520C:p.L507P,ENSG00000078795:ENST00000502810:exon10:c.T1454C:p.L485P,ENSG00000078795:ENST00000508883:exon10:c.T1520C:p.L507P Score=259;Name=lod=15 NA 5q31.2 NA NA NA NA rs12187140 0.99 0.99 0.984 0.977037 1 1 0.9942 0.916 1 1 1 1 0.94 0.9943 1 0.61 T 0.0 B 0.0 B 0.002 N 0.376 P -1.935 N 0.41 T -0.949 T 0.000 T 0.155 -0.229 2.894 4.53 0.678 1.118 4.204 -0.228994 NA 0.08 0.999754 0.933204 NA 0.978 NA 7.3392794 926 6 142758631 142758631 A G exonic GPR126 NA nonsynonymous SNV GPR126:NM_001032394:exon22:c.A3296G:p.Q1099R,GPR126:NM_001032395:exon22:c.A3296G:p.Q1099R,GPR126:NM_020455:exon23:c.A3380G:p.Q1127R,GPR126:NM_198569:exon23:c.A3380G:p.Q1127R exonic ENSG00000112414 NA nonsynonymous SNV ENSG00000112414:ENST00000296932:exon22:c.A3296G:p.Q1099R,ENSG00000112414:ENST00000367608:exon22:c.A3296G:p.Q1099R,ENSG00000112414:ENST00000230173:exon23:c.A3380G:p.Q1127R,ENSG00000112414:ENST00000367609:exon23:c.A3380G:p.Q1127R NA NA 6q24.1 NA NA NA NA rs1262686 1 1 1 0.999601 0.998 1 1 1 1 1 1 1 1 0.9985 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.795 N 1.38 T -0.990 T 0.008 T 0.291 0.628 7.377 5.29 1.495 3.586 14.302 0.627939 NA 1 0.997682 0.999457 NA 0.949 NA 7.3391514 926 4 107168431 107168431 G C exonic TBCK NA nonsynonymous SNV TBCK:NM_033115:exon8:c.C607G:p.Q203E,TBCK:NM_001163435:exon10:c.C796G:p.Q266E,TBCK:NM_001163436:exon10:c.C796G:p.Q266E,TBCK:NM_001163437:exon10:c.C679G:p.Q227E exonic ENSG00000145348 NA nonsynonymous SNV ENSG00000145348:ENST00000361687:exon8:c.C607G:p.Q203E,ENSG00000145348:ENST00000394706:exon10:c.C679G:p.Q227E,ENSG00000145348:ENST00000394708:exon10:c.C796G:p.Q266E,ENSG00000145348:ENST00000432496:exon10:c.C796G:p.Q266E,ENSG00000145348:ENST00000273980:exon11:c.C796G:p.Q266E Score=243;Name=lod=13 NA 4q24 NA NA NA NA rs3775091 0.99 0.99 0.988 0.992013 1 0.9683 0.9885 1 1 1 0.97 0.98 1 0.9944 1 1 T 0.0 B 0.001 B 0.000 N 1.000 P -0.08 N 3.02 T -0.933 T 0.000 T 0.355 -1.021 0.232 4.74 0.732 2.660 10.671 -1.020614 NA 1 1 0.999319 NA 0.993 NA 7.3389334 926 10 33143396 33143396 G A exonic C10orf68 NA nonsynonymous SNV C10orf68:NM_024688:exon21:c.G1819A:p.V607I exonic ENSG00000150076 NA nonsynonymous SNV ENSG00000150076:ENST00000375028:exon20:c.G1831A:p.V611I,ENSG00000150076:ENST00000302316:exon21:c.G1819A:p.V607I,ENSG00000150076:ENST00000375025:exon21:c.G2011A:p.V671I,ENSG00000150076:ENST00000375030:exon22:c.G1696A:p.V566I NA NA 10p11.22 NA NA NA NA rs1418538 0.99 0.99 0.984 0.983626 1 1 0.9914 0.9425 1 1 1 0.99 0.95 0.9948 1 1 T 0.0 B 0.0 B . . 1.000 P -0.205 N 1.63 T -0.995 T 0.000 T 0.034 -2.219 0.005 -6.95 -3.903 -1.815 2.526 -2.218708 NA 1 0.999767 0.947548 NA 0.971 NA 7.3387664 926 16 31075708 31075708 C G exonic ZNF668 NA nonsynonymous SNV ZNF668:NM_001172668:exon2:c.G73C:p.V25L,ZNF668:NM_001172670:exon2:c.G73C:p.V25L,ZNF668:NM_024706:exon2:c.G73C:p.V25L,ZNF668:NM_001172669:exon3:c.G142C:p.V48L exonic ENSG00000167394 NA nonsynonymous SNV ENSG00000167394:ENST00000300849:exon2:c.G73C:p.V25L,ENSG00000167394:ENST00000394983:exon2:c.G73C:p.V25L,ENSG00000167394:ENST00000414399:exon2:c.G73C:p.V25L,ENSG00000167394:ENST00000417935:exon2:c.G73C:p.V25L,ENSG00000167394:ENST00000442862:exon2:c.G73C:p.V25L,ENSG00000167394:ENST00000535577:exon2:c.G73C:p.V25L,ENSG00000167394:ENST00000538906:exon2:c.G73C:p.V25L,ENSG00000167394:ENST00000426488:exon3:c.G142C:p.V48L,ENSG00000167394:ENST00000539836:exon3:c.G142C:p.V48L Score=497;Name=lod=139 NA 16p11.2 Score=879;Name=V$NKX22_01 NA NA NA rs2032917 0.98 0.98 0.986 0.983826 0.999 1 0.9986 0.9402 1 1 1 1 0.93 0.9957 1 0.11 T 0.0 B 0.0 B 0.008 N 1.000 P -0.695 N 3.2 T -1.023 T 0.000 T 0.26 -0.016 3.932 2.79 0.244 . 5.049 -0.016021 NA 0.55 0.999884 0.956284 NA 0.971 NA 7.3387494 926 3 42917047 42917047 A G exonic CYP8B1 NA nonsynonymous SNV CYP8B1:NM_004391:exon1:c.T262C:p.S88P exonic ENSG00000180432 NA nonsynonymous SNV ENSG00000180432:ENST00000316161:exon1:c.T262C:p.S88P,ENSG00000180432:ENST00000437102:exon1:c.T262C:p.S88P Score=423;Name=lod=70 NA 3p22.1 Score=874;Name=V$E2F_02 NA NA NA rs9865715 0.99 0.99 0.984 0.984425 1 1 0.9971 0.9425 1 1 1 1 0.95 0.9952 1 0.48 T 0.0 B 0.004 B 0.000 N 0.000 P -0.55 N -0.38 T -0.979 T 0.000 T 0.092 0.295 5.6 3.17 0.738 0.808 8.957 0.295384 NA 0.48 0.999419 0.953019 NA 0.978 NA 7.3387144 926 19 5214697 5214697 A G exonic PTPRS NA nonsynonymous SNV PTPRS:NM_130853:exon20:c.T3028C:p.C1010R,PTPRS:NM_130855:exon21:c.T3040C:p.C1014R,PTPRS:NM_130854:exon24:c.T4255C:p.C1419R,PTPRS:NM_002850:exon29:c.T4369C:p.C1457R exonic ENSG00000105426 NA nonsynonymous SNV ENSG00000105426:ENST00000592099:exon19:c.T3028C:p.C1010R,ENSG00000105426:ENST00000353284:exon20:c.T3028C:p.C1010R,ENSG00000105426:ENST00000588012:exon23:c.T4255C:p.C1419R,ENSG00000105426:ENST00000348075:exon24:c.T4255C:p.C1419R,ENSG00000105426:ENST00000262963:exon25:c.T4309C:p.C1437R,ENSG00000105426:ENST00000587303:exon28:c.T4369C:p.C1457R,ENSG00000105426:ENST00000357368:exon29:c.T4369C:p.C1457R,ENSG00000105426:ENST00000372412:exon29:c.T4372C:p.C1458R Score=625;Name=lod=462 NA 19p13.3 NA NA NA NA rs4807697 1 1 0.998 0.999002 0.997 1 0.9986 1 0.999 1 1 1 1 0.9992 1 0.4 T 0.001 B 0.001 B 0.001 N 0.000 P -1.81 N -1.61 D -0.973 T 0.000 T 0.066 0.105 4.566 0.736 0.217 3.030 5.801 0.105071 NA 0.27 0.998488 0.999319 NA 1 NA 7.3386454 926 16 28508716 28508716 T C exonic APOBR NA nonsynonymous SNV APOBR:NM_018690:exon2:c.T2354C:p.V785A exonic ENSG00000184730 NA nonsynonymous SNV ENSG00000184730:ENST00000564831:exon2:c.T2354C:p.V785A,ENSG00000184730:ENST00000328423:exon3:c.T2327C:p.V776A,ENSG00000184730:ENST00000431282:exon3:c.T2327C:p.V776A NA NA 16p11.2 NA NA NA NA rs40832 0.99 0.99 0.984 0.987021 1 1 0.9942 0.9539 1 1 1 0.99 0.95 0.9953 1 0.81 T . . . . . . 1.000 P . . 0.43 T -1.005 T 0.000 T 0.013 -1.015 0.239 -6.06 -1.532 -1.060 3.495 -1.015119 NA NA 0.999402 0.947407 NA 0.993 NA 7.3386314 926 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=FOSL1_(SC-183),Egr-1,Pol2 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 926 6 99883704 99883704 T C exonic USP45 NA nonsynonymous SNV USP45:NM_001080481:exon18:c.A2333G:p.N778S exonic ENSG00000123552 NA nonsynonymous SNV ENSG00000123552:ENST00000539675:exon5:c.A212G:p.N71S,ENSG00000123552:ENST00000392738:exon15:c.A1373G:p.N458S,ENSG00000123552:ENST00000369233:exon17:c.A2189G:p.N730S,ENSG00000123552:ENST00000327681:exon18:c.A2333G:p.N778S,ENSG00000123552:ENST00000500704:exon18:c.A2333G:p.N778S Score=272;Name=lod=17 NA 6q16.2 NA NA NA NA rs6570065 0.99 0.99 0.987 0.985024 1 1 0.9928 0.947 1 1 1 0.99 0.95 0.9949 1 0.77 T 0.0 B 0.0 B 0.009 N 0.000 P -1.39 N 3.77 T -0.942 T 0.006 T 0.005 0.335 5.819 4.88 0.784 1.694 6.886 0.335299 NA 0.68 0.999884 0.937812 NA 0.986 NA 7.3385494 926 7 7613039 7613039 C T exonic MIOS NA synonymous SNV MIOS:NM_019005:exon4:c.C933T:p.P311P exonic ENSG00000164654 NA synonymous SNV ENSG00000164654:ENST00000405785:exon3:c.C933T:p.P311P,ENSG00000164654:ENST00000340080:exon4:c.C933T:p.P311P Score=674;Name=lod=729 NA 7p21.3 Score=871;Name=V$FOXJ2_02 NA NA NA rs61744397 0.09 0.09 0.09 0.0994409 0.1143 0.0506 0.0893 0.0968 0.1452 0.11 0.05 0.12 0.07 0.1072 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01973 NA NA 0.10672 0.072497 NA 0.065 NA 7.3384466 926 16 10995933 10995933 A G exonic CIITA NA nonsynonymous SNV CIITA:NM_000246:exon7:c.A520G:p.R174G exonic ENSG00000179583 NA nonsynonymous SNV ENSG00000179583:ENST00000324288:exon7:c.A520G:p.R174G,ENSG00000179583:ENST00000576601:exon7:c.A448G:p.R150G Score=251;Name=lod=14 NA 16p13.13 NA NA NA NA rs8046121 0.99 0.99 0.989 0.98722 0.999 1 0.9971 0.9539 1 1 1 1 0.96 0.9959 1 0.55 T 0.0 B 0.0 B . . 0.000 P -0.69 N -0.52 T -0.976 T 0.000 T 0.409 0.101 4.545 4.09 0.855 1.716 8.293 0.101201 NA 0.58 1 0.950159 NA 0.971 NA 7.3384334 926 16 84217062 84217062 C T exonic TAF1C NA nonsynonymous SNV TAF1C:NM_001243156:exon4:c.G272A:p.C91Y,TAF1C:NM_005679:exon4:c.G272A:p.C91Y,TAF1C:NM_139353:exon4:c.G71A:p.C24Y exonic ENSG00000103168 NA nonsynonymous SNV ENSG00000103168:ENST00000378541:exon3:c.G272A:p.C91Y,ENSG00000103168:ENST00000569505:exon3:c.G71A:p.C24Y,ENSG00000103168:ENST00000341690:exon4:c.G71A:p.C24Y,ENSG00000103168:ENST00000541676:exon4:c.G71A:p.C24Y,ENSG00000103168:ENST00000564345:exon4:c.G272A:p.C91Y,ENSG00000103168:ENST00000564454:exon4:c.G296A:p.C99Y,ENSG00000103168:ENST00000566732:exon4:c.G272A:p.C91Y,ENSG00000103168:ENST00000566903:exon4:c.G272A:p.C91Y,ENSG00000103168:ENST00000567759:exon4:c.G272A:p.C91Y NA NA 16q24.1 Score=777;Name=V$STAT1_01 NA NA NA rs4782591 1 1 1 0.9998 0.999 1 1 1 1 1 1 1 1 0.9989 1 1 T 0.0 B 0.0 B 0.215 N 1.000 P -1.39 N 1.04 T -0.931 T 0.000 T 0.33 -0.85 0.549 -4.59 -0.764 -1.897 0.693 -0.850193 NA 1 0.997325 1 NA 1 NA 7.3381084 926 15 66644521 66644521 C G exonic TIPIN NA nonsynonymous SNV TIPIN:NM_017858:exon3:c.G158C:p.R53P exonic ENSG00000075131 NA nonsynonymous SNV ENSG00000075131:ENST00000261881:exon3:c.G158C:p.R53P,ENSG00000075131:ENST00000562124:exon3:c.G158C:p.R53P,ENSG00000075131:ENST00000566524:exon3:c.G158C:p.R53P,ENSG00000075131:ENST00000568216:exon3:c.G158C:p.R53P,ENSG00000075131:ENST00000570251:exon3:c.G158C:p.R53P Score=423;Name=lod=70 NA 15q22.31 NA NA NA NA rs9806123 0.99 0.99 0.989 0.983227 1 1 0.9986 0.9372 1 1 1 1 0.95 0.9954 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.045 N 2.81 T -0.955 T 0.000 T 0.4 -0.919 0.4 4.8 1.145 0.631 14.232 -0.918748 NA 1 0.999884 0.950477 NA 0.971 NA 7.3380494 926 12 27800746 27800746 G T exonic PPFIBP1 NA nonsynonymous SNV PPFIBP1:NM_001198916:exon6:c.G442T:p.V148L,PPFIBP1:NM_003622:exon6:c.G442T:p.V148L,PPFIBP1:NM_177444:exon6:c.G442T:p.V148L exonic ENSG00000110841 NA nonsynonymous SNV ENSG00000110841:ENST00000228425:exon6:c.G442T:p.V148L,ENSG00000110841:ENST00000318304:exon6:c.G442T:p.V148L,ENSG00000110841:ENST00000535047:exon6:c.G442T:p.V148L,ENSG00000110841:ENST00000542629:exon6:c.G442T:p.V148L,ENSG00000110841:ENST00000545381:exon6:c.G442T:p.V148L Score=664;Name=lod=667 NA 12p11.22 NA NA NA NA rs2194816 0.99 0.99 0.99 0.994409 1 1 0.9957 0.9811 1 1 1 0.99 0.98 0.9972 1 1 T 0.0 B 0.0 B 0.018 N 0.000 P -2.71 N 1.52 T -0.651 T 0.000 T 0.29 0.426 6.312 -9.06 -2.690 0.128 21.851 0.425659 NA 1 0.99814 0.984567 NA 0.978 NA 7.3379934 926 4 115589302 115589302 A G exonic UGT8 NA nonsynonymous SNV UGT8:NM_003360:exon4:c.A1104G:p.I368M,UGT8:NM_001128174:exon5:c.A1104G:p.I368M exonic ENSG00000174607 NA nonsynonymous SNV ENSG00000174607:ENST00000394511:exon4:c.A1104G:p.I368M,ENSG00000174607:ENST00000310836:exon5:c.A1104G:p.I368M Score=437;Name=lod=80 NA 4q26 NA NA NA Score=97;Name=1780945_0_+_97 rs11098261 0.99 0.99 0.991 0.989217 1 1 0.9957 0.9614 1 1 1 1 0.97 0.9958 1 0.2 T 0.007 B 0.064 B 0.000 N 1.000 P 1.28 L -0.33 T -1.040 T 0.000 T 0.212 1.795 11.96 1.96 -0.150 5.650 7.590 1.79467 1.79467 1 0.999884 0.953926 NA 0.986 NA 7.3376494 926 1 16577908 16577908 G C exonic FBXO42 NA nonsynonymous SNV FBXO42:NM_018994:exon10:c.C1411G:p.P471A exonic ENSG00000037637 NA nonsynonymous SNV ENSG00000037637:ENST00000456164:exon3:c.C565G:p.P189A,ENSG00000037637:ENST00000444116:exon4:c.C565G:p.P189A,ENSG00000037637:ENST00000375592:exon10:c.C1411G:p.P471A Score=443;Name=lod=84 NA 1p36.13 NA NA NA NA rs12069239 0.3 0.3 0.313 0.270767 0.334 0.1746 0.2133 0.4312 0.1288 0.32 0.16 0.25 0.46 0.3035 0.46 0.61 T 0.0 B 0.0 B 0.323 N 1.000 P 0 N 3.68 T -0.919 T 0.000 T 0.098 0.062 4.337 0.736 -0.343 0.097 1.564 0.061879 NA 0.51 0.358605 0.423059 NA 0.486 NA 7.3372284 926 16 8738499 8738499 G A exonic METTL22 NA nonsynonymous SNV METTL22:NM_024109:exon10:c.G1096A:p.A366T exonic ENSG00000067365 NA nonsynonymous SNV ENSG00000067365:ENST00000562973:exon2:c.G184A:p.A62T,ENSG00000067365:ENST00000381920:exon10:c.G1096A:p.A366T,ENSG00000067365:ENST00000561758:exon11:c.G928A:p.A310T NA NA 16p13.2 NA Name=c-Myc,Max Name=8 NA rs1731000 0.99 0.99 0.994 0.986222 1 1 0.9928 0.9516 1 1 1 0.99 0.97 0.9963 1 0.57 T 0.006 B 0.004 B 0.666 N 1.000 P 1.7 L 2.23 T -0.986 T 0.000 T 0.223 -0.248 2.804 -4.67 -0.577 -0.065 3.329 -0.248409 NA 0.61 0.999881 0.960737 NA 0.935 NA 7.3371524 926 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$HEN1_02 NA Name=5 NA rs231402 0.35 0.35 0.335 0.372005 0.4324 0.4603 0.487 0.1097 0.4918 0.41 0.41 0.46 0.12 0.4514 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.196596 NA NA 0.445918 0.162052 NA 0.341 NA 7.3369486 926 9 119739015 119739015 G A exonic ASTN2 NA synonymous SNV ASTN2:NM_014010:exon7:c.C1488T:p.H496H exonic ENSG00000148219 NA synonymous SNV ENSG00000148219:ENST00000373986:exon6:c.C822T:p.H274H,ENSG00000148219:ENST00000361209:exon7:c.C1488T:p.H496H,ENSG00000148219:ENST00000313400:exon8:c.C1641T:p.H547H,ENSG00000148219:ENST00000373996:exon8:c.C1641T:p.H547H Score=587;Name=lod=324 NA 9q33.1 Score=806;Name=V$CDPCR3_01 NA NA NA rs10983437 0.14 0.14 0.142 0.137181 0.1123 0.0823 0.0793 0.2655 0.0869 0.13 0.09 0.09 0.25 0.1108 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785686 NA NA 0.106628 0.247163 NA 0.072 NA 7.3369386 926 3 49760039 49760039 T C exonic GMPPB NA nonsynonymous SNV GMPPB:NM_013334:exon5:c.A551G:p.Q184R,GMPPB:NM_021971:exon5:c.A551G:p.Q184R exonic ENSG00000173540 NA nonsynonymous SNV ENSG00000173540:ENST00000308375:exon5:c.A551G:p.Q184R,ENSG00000173540:ENST00000308388:exon5:c.A551G:p.Q184R,ENSG00000173540:ENST00000480687:exon6:c.A551G:p.Q184R Score=623;Name=lod=455 NA 3p21.31 NA NA NA NA rs1466685 0.99 0.99 0.988 0.989018 1 1 0.9942 0.9614 1 1 1 1 0.95 0.9967 1 0.08 T 0.0 B 0.001 B 0.595 N 0.000 P 0.05 N -3.29 D -0.902 T 0.000 T 0.07 1.114 9.545 -2.63 -0.774 -0.877 13.805 1.114316 NA 0.05 0.999767 0.968452 NA 0.971 NA 7.3368664 926 10 71018660 71018660 T C exonic HKDC1 NA nonsynonymous SNV HKDC1:NM_025130:exon15:c.T2161C:p.W721R exonic ENSG00000156510 NA nonsynonymous SNV ENSG00000156510:ENST00000354624:exon15:c.T2161C:p.W721R,ENSG00000156510:ENST00000395086:exon15:c.T2161C:p.W721R Score=554;Name=lod=239 NA 10q22.1 NA NA NA NA rs1111335 0.99 0.99 0.994 0.990016 1 0.995 1 0.9705 0.9939 1 0.99 1 0.98 0.9966 1 1 T 0.0 B 0.0 B 0.020 N 1.000 P -2.77 N -3.65 D -0.920 T 0.000 T 0.198 -0.763 0.779 2.0 0.217 -0.388 10.370 -0.762842 NA 1 0.999884 0.981162 NA 0.993 NA 7.3368494 926 16 51171175 51171175 C T exonic SALL1 NA nonsynonymous SNV SALL1:NM_001127892:exon3:c.G3532A:p.V1178I,SALL1:NM_002968:exon3:c.G3823A:p.V1275I exonic ENSG00000103449 NA nonsynonymous SNV ENSG00000103449:ENST00000541611:exon2:c.G292A:p.V98I,ENSG00000103449:ENST00000251020:exon3:c.G3823A:p.V1275I,ENSG00000103449:ENST00000440970:exon3:c.G3532A:p.V1178I Score=515;Name=lod=165 NA 16q12.1 NA NA Name=20 NA rs4614723 0.98 0.98 0.988 0.986821 1 1 0.9957 0.9523 1 0.99 0.99 1 0.93 0.9965 1 0.41 T 0.0 B 0.0 B 0.000 N 0.000 P -0.755 N 1.19 T -0.990 T 0.000 T 0.043 -1.032 0.217 3.5 0.101 0.732 8.608 -1.031871 NA 0.91 1 0.965651 NA 0.964 NA 7.3368334 926 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 926 11 56510672 56510672 T C exonic OR9G4 NA nonsynonymous SNV OR9G4:NM_001005284:exon1:c.A616G:p.N206D exonic ENSG00000172457 NA nonsynonymous SNV ENSG00000172457:ENST00000302957:exon1:c.A616G:p.N206D Score=415;Name=lod=65 NA 11q12.1 NA NA NA NA rs577576 0.99 0.99 0.987 0.987819 1 1 1 0.9539 1 1 1 1 0.95 0.9969 1 1 T 0.0 B 0.001 B 0.021 N 1.000 P -1.945 N 9.0 T -0.960 T 0.000 T 0.007 -0.946 0.349 5.07 1.384 0.693 9.180 -0.946079 NA 1 0.999767 0.970468 NA 0.986 NA 7.3366664 926 1 62330080 62330080 T G exonic INADL NA nonsynonymous SNV INADL:NM_176877:exon20:c.T2610G:p.I870M exonic ENSG00000132849 NA nonsynonymous SNV ENSG00000132849:ENST00000484937:exon8:c.T987G:p.I329M,ENSG00000132849:ENST00000316485:exon20:c.T2610G:p.I870M,ENSG00000132849:ENST00000371158:exon20:c.T2610G:p.I870M Score=454;Name=lod=93 NA 1p31.3 NA NA NA NA rs2799627 0.99 0.99 0.99 0.990815 1 1 0.9986 0.966 1 1 1 1 0.97 0.9968 1 1 T 0.0 B 0.0 B 0.001 N 0.000 P -1.725 N 3.03 T -0.973 T 0.000 T 0.212 -0.462 1.865 4.57 0.703 4.732 10.670 -0.461592 NA 1 0.999884 0.963232 NA 1 NA 7.3366494 926 1 152085505 152085505 A C exonic TCHH NA nonsynonymous SNV TCHH:NM_007113:exon3:c.T188G:p.L63R exonic ENSG00000159450 NA nonsynonymous SNV ENSG00000159450:ENST00000368804:exon2:c.T188G:p.L63R Score=395;Name=lod=54 NA 1q21.3 NA NA NA NA rs2515663 0.99 0.99 0.995 0.989217 1 1 0.9957 0.9614 1 1 1 1 0.97 0.997 1 1 T 0.197 B 0.003 B . . 0.948 P -1.37 N 2.55 T -0.948 T 0.003 T 0.08 -0.043 3.794 4.58 1.289 0.546 10.346 -0.043011 NA NA 0.999757 0.969067 NA 0.993 NA 7.3365764 926 1 159409734 159409734 G T exonic OR10J1 NA nonsynonymous SNV OR10J1:NM_012351:exon1:c.G186T:p.M62I exonic ENSG00000196184 NA nonsynonymous SNV ENSG00000196184:ENST00000423932:exon1:c.G186T:p.M62I NA NA 1q23.2 NA NA NA NA rs10908722 0.99 0.99 0.991 0.988219 1 1 0.9971 0.9569 1 1 1 1 0.96 0.9969 1 0.51 T 0.0 B 0.0 B 0.194 N 1.000 P -0.015 N 4.11 T -0.903 T 0.001 T 0.03 -1.631 0.013 -5.45 -2.436 -4.782 2.818 -1.630514 NA 0.48 0.999884 0.968452 NA 1 NA 7.3365494 926 3 112190137 112190137 G T exonic BTLA NA nonsynonymous SNV BTLA:NM_181780:exon3:c.C469A:p.R157S exonic ENSG00000186265 NA nonsynonymous SNV ENSG00000186265:ENST00000334529:exon3:c.C469A:p.R157S NA NA 3q13.2 NA NA NA NA rs2931761 0.99 0.99 0.989 0.988219 1 0.994 0.9971 0.9614 1 1 1 1 0.96 0.9969 1 0.44 T 0.0 B 0.0 B 0.973 N 1.000 P -1.79 N 2.04 T -1.002 T 0.000 T 0.133 -1.549 0.015 -4.86 -1.463 -1.426 1.509 -1.549309 NA 1 1 0.97231 NA 0.993 NA 7.3364334 926 3 129293183 129293183 T C exonic PLXND1 NA nonsynonymous SNV PLXND1:NM_015103:exon12:c.A2681G:p.H894R exonic ENSG00000004399 NA nonsynonymous SNV ENSG00000004399:ENST00000324093:exon12:c.A2681G:p.H894R,ENSG00000004399:ENST00000393239:exon12:c.A2681G:p.H894R Score=401;Name=lod=57 NA 3q22.1 NA NA NA NA rs2625962 0.99 0.99 0.993 0.988219 1 1 0.9986 0.9561 1 1 1 1 0.97 0.9974 1 0.83 T 0.0 B 0.002 B 0.070 N 0.000 P 0.465 N -0.9 T -0.945 T 0.000 T 0.115 -1.496 0.017 3.29 0.308 1.056 8.875 -1.496387 NA 1 0.999765 0.970358 NA 0.993 NA 7.3361684 926 3 125786879 125786879 T C exonic SLC41A3 NA nonsynonymous SNV SLC41A3:NM_001008485:exon2:c.A184G:p.T62A,SLC41A3:NM_001008486:exon2:c.A184G:p.T62A,SLC41A3:NM_017836:exon2:c.A184G:p.T62A exonic ENSG00000114544 NA nonsynonymous SNV ENSG00000114544:ENST00000315891:exon2:c.A184G:p.T62A,ENSG00000114544:ENST00000346785:exon2:c.A184G:p.T62A,ENSG00000114544:ENST00000360370:exon2:c.A184G:p.T62A,ENSG00000114544:ENST00000504035:exon2:c.A184G:p.T62A,ENSG00000114544:ENST00000505996:exon2:c.A184G:p.T62A,ENSG00000114544:ENST00000507280:exon2:c.A184G:p.T62A,ENSG00000114544:ENST00000509064:exon2:c.A184G:p.T62A,ENSG00000114544:ENST00000509452:exon2:c.A184G:p.T62A,ENSG00000114544:ENST00000510651:exon2:c.A184G:p.T62A,ENSG00000114544:ENST00000512470:exon2:c.A184G:p.T62A,ENSG00000114544:ENST00000513723:exon2:c.A184G:p.T62A,ENSG00000114544:ENST00000514677:exon2:c.A184G:p.T62A,ENSG00000114544:ENST00000514891:exon2:c.A184G:p.T62A,ENSG00000114544:ENST00000514333:exon3:c.A184G:p.T62A NA NA 3q21.2 NA NA NA NA rs4234270 0.99 0.99 0.986 0.993211 1 1 1 0.9743 1 1 1 1 0.97 0.9974 1 0.69 T 0.0 B 0.001 B 0.089 N 1.000 P -1.32 N 1.69 T -1.030 T 0.000 T 0.298 -1.571 0.015 -4.75 -1.344 -1.407 5.073 -1.570706 NA 0.56 1 0.972537 NA 0.993 NA 7.3359334 926 18 33780020 33780020 A G exonic MOCOS NA nonsynonymous SNV MOCOS:NM_017947:exon4:c.A674G:p.H225R exonic ENSG00000075643 NA nonsynonymous SNV ENSG00000075643:ENST00000261326:exon4:c.A674G:p.H225R NA NA 18q12.2 NA NA Name=4 NA rs623558 0.99 0.99 0.989 0.992612 1 0.996 0.9986 0.9758 1 1 0.99 1 0.98 0.9975 1 0.73 T 0.0 B 0.0 B 0.238 N 1.000 P -1.2 N -2.22 D -0.983 T 0.000 T 0.01 -1.634 0.013 1.7 -0.100 1.383 2.923 -1.633905 NA 0.44 1 0.974126 NA 0.986 NA 7.3358334 926 2 187532417 187532417 G A exonic ITGAV NA nonsynonymous SNV ITGAV:NM_001145000:exon22:c.G2239A:p.V747I,ITGAV:NM_001144999:exon24:c.G2209A:p.V737I,ITGAV:NM_002210:exon24:c.G2347A:p.V783I exonic ENSG00000138448 NA nonsynonymous SNV ENSG00000138448:ENST00000374907:exon22:c.G2239A:p.V747I,ENSG00000138448:ENST00000261023:exon24:c.G2347A:p.V783I,ENSG00000138448:ENST00000433736:exon24:c.G2209A:p.V737I Score=454;Name=lod=93 NA 2q32.1 NA NA NA NA rs2230616 0.99 0.99 0.996 0.992212 1 1 0.9986 0.9713 1 1 1 1 0.98 0.9978 1 0.78 T 0.007 B 0.017 B 0.002 N 0.969 P 0.515 N 0.62 T -0.948 T 0.000 T 0.145 1.464 10.84 3.39 0.454 2.739 8.678 1.464145 1.464145 0.81 0.999767 0.973445 NA 1 NA 7.3357664 926 12 7551022 7551022 A T exonic CD163L1 NA nonsynonymous SNV CD163L1:NM_174941:exon7:c.T1567A:p.L523M exonic ENSG00000177675 NA nonsynonymous SNV ENSG00000177675:ENST00000313599:exon7:c.T1567A:p.L523M,ENSG00000177675:ENST00000396630:exon7:c.T1567A:p.L523M,ENSG00000177675:ENST00000416109:exon7:c.T1597A:p.L533M NA NA 12p13.31 NA NA Name=6 NA rs6488268 1 1 0.994 0.99381 1 1 0.9986 0.9773 1 1 1 1 0.98 0.9977 1 0.13 T 0.724 P 0.589 P 0.136 N 1.000 P 1.745 L 1.45 T -0.902 T 0.000 T 0.164 1.284 10.2 -0.69 -0.583 -5.323 3.136 1.284141 1.284141 0.16 0.999884 0.97458 NA 1 NA 7.3357494 926 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=GR,p300,HA-E2F1 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 926 8 6302418 6302418 A G exonic MCPH1 NA nonsynonymous SNV MCPH1:NM_001172575:exon7:c.A1031G:p.D344G,MCPH1:NM_001172574:exon8:c.A1175G:p.D392G,MCPH1:NM_024596:exon8:c.A1175G:p.D392G exonic ENSG00000147316 NA nonsynonymous SNV ENSG00000147316:ENST00000522905:exon7:c.A1031G:p.D344G,ENSG00000147316:ENST00000344683:exon8:c.A1175G:p.D392G,ENSG00000147316:ENST00000519480:exon8:c.A1175G:p.D392G NA NA 8p23.1 NA NA NA NA rs2515569 0.99 0.99 0.996 0.994409 1 1 1 0.9788 1 1 1 1 0.97 0.998 1 0.71 T 0.0 B 0.0 B 0.000 N 1.000 P -1.15 N 2.99 T -0.923 T 0.000 T 0.083 0.024 4.14 -11.5 -4.375 -3.530 8.686 0.024393 NA 0.97 0.999881 0.977656 NA 0.993 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082198.1;CLNDSDB=.;CLNDSDBID=. 7.3354524 926 3 122186188 122186188 C T exonic KPNA1 NA nonsynonymous SNV KPNA1:NM_002264:exon3:c.G218A:p.S73N exonic ENSG00000114030 NA nonsynonymous SNV ENSG00000114030:ENST00000485027:exon2:c.G218A:p.S73N,ENSG00000114030:ENST00000344337:exon3:c.G218A:p.S73N,ENSG00000114030:ENST00000465882:exon3:c.G218A:p.S73N,ENSG00000114030:ENST00000476916:exon3:c.G218A:p.S73N,ENSG00000114030:ENST00000482287:exon3:c.G218A:p.S73N,ENSG00000114030:ENST00000493510:exon3:c.G218A:p.S73N,ENSG00000114030:ENST00000494339:exon3:c.G218A:p.S73N Score=627;Name=lod=470 NA 3q21.1 NA NA NA NA rs4678193 0.99 0.99 0.991 0.99381 1 1 1 0.9766 1 1 1 1 0.98 0.998 1 0.75 T 0.0 B 0.005 B 0.003 N 1.000 P 1.31 L 0.87 T -0.935 T 0.000 T 0.056 0.851 8.44 4.56 0.781 4.464 8.401 0.850528 NA 0.5 0.999884 0.978883 NA 0.768 NA 7.3354494 926 15 48460927 48460927 C T exonic MYEF2 NA nonsynonymous SNV MYEF2:NM_016132:exon2:c.G271A:p.A91T exonic ENSG00000104177 NA nonsynonymous SNV ENSG00000104177:ENST00000267836:exon2:c.G271A:p.A91T,ENSG00000104177:ENST00000324324:exon2:c.G271A:p.A91T,ENSG00000104177:ENST00000561151:exon2:c.G271A:p.A91T,ENSG00000104177:ENST00000561351:exon2:c.G271A:p.A91T Score=589;Name=lod=330 NA 15q21.1 NA Name=MafF_(M8194),MafK_(SC-477) NA NA rs8023906 0.99 0.99 0.996 0.993011 1 1 0.9986 0.9743 1 1 1 1 0.98 0.998 1 1 T 0.0 B 0.0 B 0.015 N 1.000 P -1.39 N 2.66 T -0.983 T 0.000 T 0.066 -1.208 0.068 2.28 0.551 -0.009 1.747 -1.207618 NA 0.92 1 0.975193 NA 0.993 NA 7.3353334 926 1 180885430 180885430 T C exonic KIAA1614 NA nonsynonymous SNV KIAA1614:NM_020950:exon2:c.T191C:p.L64P exonic ENSG00000135835 NA nonsynonymous SNV ENSG00000135835:ENST00000367588:exon2:c.T191C:p.L64P NA NA 1q25.3 NA NA NA NA rs10732273 1 1 0.994 0.99401 1 1 1 0.9773 1 1 1 1 0.99 0.9984 1 0.12 T 0.0 B 0.0 B 0.016 N 1.000 P 0.345 N 3.35 T -0.936 T 0.000 T 0.031 1.262 10.12 -8.68 -2.054 -1.073 1.857 1.261995 1.261995 0.25 0.999635 0.988177 NA 0.993 NA 7.3352984 926 12 114377899 114377899 G C exonic RBM19 NA nonsynonymous SNV RBM19:NM_001146698:exon15:c.C1804G:p.Q602E,RBM19:NM_001146699:exon15:c.C1804G:p.Q602E,RBM19:NM_016196:exon15:c.C1804G:p.Q602E exonic ENSG00000122965 NA nonsynonymous SNV ENSG00000122965:ENST00000261741:exon15:c.C1804G:p.Q602E,ENSG00000122965:ENST00000392561:exon15:c.C1804G:p.Q602E,ENSG00000122965:ENST00000545145:exon15:c.C1804G:p.Q602E Score=420;Name=lod=68 NA 12q24.21 NA NA NA NA rs7299217 1 1 0.997 0.995407 1 1 0.9971 0.9841 1 1 1 0.99 0.98 0.9984 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.12 N 3.17 T -0.939 T 0.000 T 0.129 -1.339 0.03 3.36 0.829 5.432 14.153 -1.338733 NA 1 0.999651 0.982524 NA 0.957 NA 7.3352824 926 19 44981525 44981525 G A exonic ZNF180 NA synonymous SNV ZNF180:NM_013256:exon5:c.C1173T:p.S391S exonic ENSG00000167384 NA synonymous SNV ENSG00000167384:ENST00000391956:exon4:c.C1098T:p.S366S,ENSG00000167384:ENST00000221327:exon5:c.C1173T:p.S391S,ENSG00000167384:ENST00000592529:exon5:c.C1092T:p.S364S NA NA 19q13.31 NA Name=SETDB1,Znf143_(16618-1-AP),KAP1,ETS1,USF-1,ZNF274 Name=69 NA rs2020083 0.16 0.16 0.149 0.132788 0.1113 0.3472 0.0548 0.0461 0.1063 0.1 0.38 0.08 0.04 0.1172 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.874105 NA NA 0.103023 0.067181 NA 0.109 NA 7.3351436 926 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 927 5 75923307 75923307 A G exonic IQGAP2 NA nonsynonymous SNV IQGAP2:NM_006633:exon14:c.A1594G:p.K532E exonic ENSG00000145703 NA nonsynonymous SNV ENSG00000145703:ENST00000396234:exon3:c.A253G:p.K85E,ENSG00000145703:ENST00000502745:exon3:c.A253G:p.K85E,ENSG00000145703:ENST00000509074:exon3:c.A253G:p.K85E,ENSG00000145703:ENST00000513534:exon3:c.A253G:p.K85E,ENSG00000145703:ENST00000514001:exon3:c.A253G:p.K85E,ENSG00000145703:ENST00000505766:exon13:c.A1444G:p.K482E,ENSG00000145703:ENST00000274364:exon14:c.A1594G:p.K532E,ENSG00000145703:ENST00000379730:exon14:c.A271G:p.K91E,ENSG00000145703:ENST00000514350:exon14:c.A1513G:p.K505E NA NA 5q13.3 Score=835;Name=V$GR_Q6 NA NA NA rs2909888 1 1 1 0.999401 0.999 1 0.9986 0.9992 1 1 1 1 1 0.9998 1 0.69 T 0.0 B 0.001 B 0.955 N 1.000 P 1.1 L 1.6 T -0.995 T 0.000 T 0.336 0.134 4.72 -4.28 -0.975 -0.303 4.447 0.133919 NA 0.46 0.999651 0.999546 NA 1 NA 7.3348824 927 16 27772901 27772901 G A exonic KIAA0556 NA nonsynonymous SNV KIAA0556:NM_015202:exon19:c.G3799A:p.A1267T exonic ENSG00000047578 NA nonsynonymous SNV ENSG00000047578:ENST00000261588:exon19:c.G3799A:p.A1267T Score=479;Name=lod=118 NA 16p12.1 NA NA NA NA rs4787984 1 1 1 0.9998 1 1 0.9986 1 1 1 1 1 1 0.9995 1 1 T 0.0 B 0.0 B 0.000 N 0.997 P -3.175 N 2.79 T -0.986 T 0.000 T 0.074 0.691 7.693 4.56 0.616 7.372 9.831 0.691394 NA NA 0.99907 1 NA 1 NA 7.3347634 927 11 65385606 65385606 A G exonic PCNXL3 NA nonsynonymous SNV PCNXL3:NM_032223:exon6:c.A773G:p.Q258R exonic ENSG00000197136 NA nonsynonymous SNV ENSG00000197136:ENST00000355703:exon6:c.A773G:p.Q258R NA NA 11q13.1 Score=681;Name=V$P53_01 NA NA NA rs1151489 1 1 0.997 0.996206 1 1 1 0.9856 1 1 1 1 0.99 0.9987 1 0.7 T 0.0 B 0.0 B 0.666 N 1.000 P 0 N 3.34 T -1.006 T 0.000 T 0.01 -0.814 0.639 3.04 0.553 2.698 5.409 -0.813945 NA 0.64 0.99988 0.985721 NA 0.971 NA 7.3347534 927 8 144732418 144732418 A G exonic ZNF623 NA nonsynonymous SNV ZNF623:NM_014789:exon1:c.A376G:p.N126D,ZNF623:NM_001082480:exon2:c.A256G:p.N86D,ZNF623:NM_001261843:exon2:c.A256G:p.N86D exonic ENSG00000183309 NA nonsynonymous SNV ENSG00000183309:ENST00000501748:exon1:c.A376G:p.N126D,ENSG00000183309:ENST00000458270:exon2:c.A256G:p.N86D,ENSG00000183309:ENST00000526926:exon2:c.A256G:p.N86D NA NA 8q24.3 NA Name=SETDB1 NA NA rs4874084 1 1 0.995 0.996605 1 1 1 0.9871 1 1 1 1 0.99 0.9986 1 0.26 T 0.0 B 0.0 B . . 1.000 P 1.065 L 3.2 T -1.024 T 0.000 T 0.017 0.147 4.788 2.26 0.510 -1.163 5.662 0.146536 NA 0.44 1 0.982524 NA 1 NA 7.3347334 927 15 57731335 57731335 A C exonic CGNL1 NA nonsynonymous SNV CGNL1:NM_032866:exon2:c.A1138C:p.T380P,CGNL1:NM_001252335:exon3:c.A1138C:p.T380P exonic ENSG00000128849 NA nonsynonymous SNV ENSG00000128849:ENST00000281282:exon2:c.A1138C:p.T380P Score=265;Name=lod=16 NA 15q21.3 NA NA NA NA rs1280395 1 1 0.996 0.994609 1 1 0.9986 0.9803 1 1 1 1 0.99 0.9986 1 1 T 0.0 B 0.0 B 0.003 N 1.000 P -2.175 N 1.32 T -0.941 T 0.000 T 0.04 -1.098 0.145 4.87 0.780 3.814 13.442 -1.098002 NA 1 1 0.981296 NA 1 NA 7.3347334 927 1 154574820 154574820 T C exonic ADAR NA nonsynonymous SNV ADAR:NM_001111:exon2:c.A298G:p.R100G,ADAR:NM_015840:exon2:c.A298G:p.R100G,ADAR:NM_015841:exon2:c.A298G:p.R100G exonic ENSG00000160710 NA nonsynonymous SNV ENSG00000160710:ENST00000529168:exon1:c.A283G:p.R95G,ENSG00000160710:ENST00000292205:exon2:c.A427G:p.R143G,ENSG00000160710:ENST00000368474:exon2:c.A298G:p.R100G NA NA 1q21.3 Score=748;Name=V$STAT5A_02 NA NA NA rs1466731 1 1 0.998 0.996206 1 1 1 0.9856 1 1 1 1 0.99 0.9988 1 0.75 T 0.0 B 0.0 B 0.002 N 1.000 P 1.59 L 2.59 T -1.015 T 0.009 T 0.084 -0.449 1.917 -2.82 -1.003 -0.947 2.295 -0.449186 NA 0.26 0.999884 0.987517 NA 1 NA 7.3346494 927 1 85624549 85624549 C T exonic SYDE2 NA nonsynonymous SNV SYDE2:NM_032184:exon7:c.G3469A:p.V1157I exonic ENSG00000097096 NA nonsynonymous SNV ENSG00000097096:ENST00000341460:exon7:c.G3469A:p.V1157I Score=654;Name=lod=604 NA 1p22.3 NA NA NA NA rs709786 1 1 1 0.999201 1 1 1 0.997 1 1 1 1 1 0.9995 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.885 N 0.99 T -0.946 T 0.009 T 0.022 -0.31 2.524 2.56 -0.034 2.146 6.744 -0.309985 NA 1 0.999512 0.997579 NA 1 NA 7.3343214 927 19 14877799 14877799 G C exonic EMR2 NA nonsynonymous SNV EMR2:NM_001271052:exon5:c.C478G:p.L160V,EMR2:NM_013447:exon6:c.C478G:p.L160V exonic ENSG00000127507 NA nonsynonymous SNV ENSG00000127507:ENST00000392962:exon5:c.C478G:p.L160V,ENSG00000127507:ENST00000392965:exon5:c.C478G:p.L160V,ENSG00000127507:ENST00000594294:exon5:c.C478G:p.L160V,ENSG00000127507:ENST00000596991:exon5:c.C478G:p.L160V,ENSG00000127507:ENST00000601345:exon5:c.C478G:p.L160V,ENSG00000127507:ENST00000315576:exon6:c.C478G:p.L160V,ENSG00000127507:ENST00000346057:exon6:c.C478G:p.L160V,ENSG00000127507:ENST00000392967:exon6:c.C478G:p.L160V NA NA 19p13.12 NA NA NA NA rs12976472 0.38 0.38 0.23 NA NA NA NA NA NA 0.36 0.3 0.42 0.49 0.2219 0.58 0.72 T 0.789 P 0.344 B . . 1.000 P 0.345 N -0.86 T -0.998 T 0.000 T 0.112 -0.844 0.563 -1.28 0.069 -0.286 4.856 -0.84436 NA 0.34 0.277165 0.40023 NA 0.609 NA 7.3342684 927 13 46108853 46108853 T C exonic COG3 NA nonsynonymous SNV COG3:NM_031431:exon23:c.T2474C:p.L825S exonic ENSG00000136152 NA nonsynonymous SNV ENSG00000136152:ENST00000349995:exon23:c.T2474C:p.L825S Score=422;Name=lod=69 NA 13q14.13 NA NA NA NA rs3014902 0.85 0.85 0.996 0.998203 1 1 0.9986 0.9939 1 0.84 0.87 0.87 0.81 0.9991 1 1 T 0.0 B 0.0 B 0.000 N 0.000 P -2.125 N 1.36 T -0.965 T 0.000 T 0.097 0.036 4.202 3.34 0.181 1.226 9.063 0.036252 NA 1 1 0.994088 NA 0.196 NA 7.3342334 927 9 126133547 126133547 T C exonic CRB2 NA nonsynonymous SNV CRB2:NM_173689:exon8:c.T2126C:p.V709A exonic ENSG00000148204 NA nonsynonymous SNV ENSG00000148204:ENST00000373629:exon3:c.T1130C:p.V377A,ENSG00000148204:ENST00000460253:exon3:c.T1130C:p.V377A,ENSG00000148204:ENST00000359999:exon8:c.T2126C:p.V709A,ENSG00000148204:ENST00000373631:exon8:c.T2126C:p.V709A NA NA 9q33.3 NA NA NA NA rs2488602 1 1 0.997 0.996605 1 1 1 0.9871 1 1 1 1 0.98 0.9992 1 0.61 T 0.002 B 0.004 B 0.559 N 1.000 P 0.55 N -1.34 T -1.034 T 0.000 T 0.017 -2.397 0.003 -6.22 -1.919 -2.337 10.127 -2.397466 NA 0.36 1 0.991829 NA 0.978 NA 7.3341334 927 5 176025938 176025938 T C exonic GPRIN1 NA nonsynonymous SNV GPRIN1:NM_052899:exon2:c.A898G:p.M300V exonic ENSG00000169258 NA nonsynonymous SNV ENSG00000169258:ENST00000303991:exon2:c.A898G:p.M300V NA NA 5q35.2 NA NA NA NA rs6556276 1 1 0.998 0.998203 1 1 1 0.9932 1 1 1 1 0.99 0.9993 1 0.37 T 0.0 B 0.0 B 0.004 N 1.000 P -0.505 N 3.15 T -1.009 T 0.000 T 0.013 -1.034 0.214 -3.95 -1.285 -2.165 7.652 -1.03408 NA 0.99 1 0.990695 NA 1 NA 7.3340334 927 9 126125318 126125318 C A exonic CRB2 NA nonsynonymous SNV CRB2:NM_173689:exon2:c.C269A:p.T90N exonic ENSG00000148204 NA nonsynonymous SNV ENSG00000148204:ENST00000359999:exon2:c.C269A:p.T90N,ENSG00000148204:ENST00000373631:exon2:c.C269A:p.T90N NA NA 9q33.3 NA NA NA NA rs2808415 1 1 0.995 0.997005 1 1 1 0.9887 1 1 1 1 0.99 0.9993 1 1 T 0.0 B 0.0 B 0.186 N 1.000 P -0.685 N -2.34 D -0.902 T 0.000 T 0.009 -2.113 0.006 -8.1 -2.003 -0.229 12.972 -2.112919 NA 1 1 0.991826 NA 1 NA 7.3340334 927 16 84520396 84520396 A G exonic TLDC1 NA nonsynonymous SNV TLDC1:NM_020947:exon5:c.T799C:p.C267R exonic ENSG00000140950 NA nonsynonymous SNV ENSG00000140950:ENST00000343629:exon5:c.T799C:p.C267R,ENSG00000140950:ENST00000535580:exon6:c.T718C:p.C240R Score=376;Name=lod=45 NA 16q24.1 NA NA NA NA rs422145 1 1 0.996 0.997604 1 1 1 0.9909 1 1 1 1 0.99 0.9993 1 1 T 0.0 B 0.0 B 0.001 N 0.708 P -2.25 N 3.38 T -0.985 T 0.000 T 0.114 -1.894 0.008 4.16 1.191 0.837 10.146 -1.893539 NA 0.8 1 0.994091 NA 1 NA 7.3340334 927 9 79322720 79322720 A G exonic PRUNE2 NA synonymous SNV PRUNE2:NM_015225:exon8:c.T4470C:p.D1490D exonic ENSG00000106772 NA synonymous SNV ENSG00000106772:ENST00000376718:exon8:c.T4470C:p.D1490D,ENSG00000106772:ENST00000428286:exon8:c.T3393C:p.D1131D NA NA 9q21.2 NA Name=MEF2A,POU2F2,Egr-1,MEF2C_(SC-13268),BATF,Oct-2 NA NA rs680729 0.81 0.81 0.789 0.777157 0.7734 0.9117 0.8213 0.6641 0.7638 0.76 0.95 0.81 0.7 0.795 0.95 . . . . . . . . 1.000 P . . . . -1.099 T 0.000 T . 0.046 4.252 -7.78 -2.039 -0.933 11.616 0.045792 NA NA 0.764238 0.691964 NA 0.754 NA 7.3340286 927 11 55873024 55873024 A G exonic OR8H2 NA nonsynonymous SNV OR8H2:NM_001005200:exon1:c.A506G:p.Y169C exonic ENSG00000181767 NA nonsynonymous SNV ENSG00000181767:ENST00000313503:exon1:c.A506G:p.Y169C Score=259;Name=lod=15 NA 11q12.1 NA NA NA NA rs2449148 1 1 1 0.998403 1 1 1 0.9939 1 1 1 1 1 0.9994 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -3.24 N 9.05 T -0.976 T 0.000 T 0.051 -1.317 0.034 3.58 0.809 4.245 8.594 -1.316626 NA 1 1 0.993639 NA 0.899 NA 7.3339334 927 12 9248233 9248233 T C exonic A2M NA nonsynonymous SNV A2M:NM_000014:exon16:c.A1915G:p.N639D exonic ENSG00000175899 NA nonsynonymous SNV ENSG00000175899:ENST00000318602:exon16:c.A1915G:p.N639D NA NA 12p13.31 NA NA NA NA rs226405 1 1 1 0.997804 1 1 1 0.9917 1 1 1 1 0.99 0.9995 1 0.65 T 0.0 B 0.0 B 0.084 N 1.000 P -0.405 N 1.67 T -1.018 T 0.000 T 0.042 -0.577 1.406 -6.26 -1.529 -1.810 2.435 -0.576908 NA 0.66 1 0.992485 NA 0.986 NA 7.3338334 927 3 97806944 97806944 T C exonic OR5AC2 NA stoploss OR5AC2:NM_054106:exon1:c.T928C:p.X310Q exonic ENSG00000196578 NA stoploss ENSG00000196578:ENST00000358642:exon1:c.T928C:p.X310Q NA NA 3q11.2 NA NA NA NA rs80220955 0.12 0.12 0.114 0.110823 0.2366 0.0069 0.1254 0.0976 0.0961 0.23 0.01 0.14 0.08 0.1901 0.24 . . . . . . . . 1.000 P . . . . . . . . . 0.648 7.475 1.53 0.138 0.719 5.738 0.647572 NA 0.58 0.239474 0.138056 NA 0.188 NA 7.333826 927 9 4118208 4118208 A G exonic GLIS3 NA nonsynonymous SNV GLIS3:NM_152629:exon3:c.T805C:p.S269P,GLIS3:NM_001042413:exon4:c.T1270C:p.S424P exonic ENSG00000107249 NA nonsynonymous SNV ENSG00000107249:ENST00000324333:exon3:c.T805C:p.S269P,ENSG00000107249:ENST00000381971:exon4:c.T1270C:p.S424P NA NA 9p24.2 NA NA NA NA rs806052 1 1 1 0.999002 1 1 1 0.9962 1 1 1 0.99 1 0.9997 1 0.4 T 0.0 B 0.0 B 0.491 N 1.000 P 0 N 2.85 T -1.067 T 0.000 T 0.035 -1.507 0.017 -2.61 -0.972 -0.894 2.681 -1.506769 NA 0.38 0.99984 0.996422 NA 0.862 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117148.2;CLNDSDB=.;CLNDSDBID=. 7.3337934 927 3 124837684 124837684 T C exonic SLC12A8 NA nonsynonymous SNV SLC12A8:NM_001195483:exon7:c.A841G:p.I281V,SLC12A8:NM_024628:exon8:c.A841G:p.I281V exonic ENSG00000221955 NA nonsynonymous SNV ENSG00000221955:ENST00000430155:exon2:c.A244G:p.I82V,ENSG00000221955:ENST00000479826:exon5:c.A487G:p.I163V,ENSG00000221955:ENST00000314584:exon7:c.A100G:p.I34V,ENSG00000221955:ENST00000393469:exon7:c.A841G:p.I281V,ENSG00000221955:ENST00000423114:exon8:c.A928G:p.I310V,ENSG00000221955:ENST00000469902:exon8:c.A841G:p.I281V Score=440;Name=lod=82 NA 3q21.2 Score=734;Name=V$MYOGNF1_01 NA NA NA rs621383 1 1 1 0.999401 1 1 1 0.9977 1 1 1 1 1 0.9997 1 1 T 0.001 B 0.004 B . . 0.992 P -1.085 N -5.13 D -0.950 T 0.000 T 0.196 0.007 4.051 1.6 0.172 0.667 9.400 0.007232 NA 1 0.999881 0.996572 NA 0.978 NA 7.3337524 927 1 247978319 247978319 A G exonic OR14A16 NA nonsynonymous SNV OR14A16:NM_001001966:exon1:c.T713C:p.I238T exonic ENSG00000196772 NA nonsynonymous SNV ENSG00000196772:ENST00000357627:exon1:c.T713C:p.I238T Score=336;Name=lod=31 NA 1q44 NA NA NA NA rs6695283 1 1 0.997 0.998802 1 1 1 0.9955 1 1 1 1 0.99 0.9997 1 1 T 0.004 B 0.002 B 0.000 N 0.997 P -3.6 N 1.48 T -0.960 T 0.000 T 0.082 -1.073 0.17 3.84 0.868 2.641 11.403 -1.072627 NA 1 0.999884 0.996596 NA 0.993 NA 7.3337494 927 16 29708350 29708350 A G exonic QPRT NA nonsynonymous SNV QPRT:NM_014298:exon3:c.A583G:p.T195A exonic ENSG00000103485 NA nonsynonymous SNV ENSG00000103485:ENST00000395384:exon3:c.A583G:p.T195A,ENSG00000103485:ENST00000562473:exon3:c.A139G:p.T47A NA NA 16p11.2 NA NA NA NA rs9932770 1 1 1 0.999201 1 1 1 0.997 1 1 1 1 1 0.9997 1 0.42 T 0.0 B 0.001 B 0.286 N 1.000 P 0.215 N 1.58 T -1.006 T 0.000 T 0.039 -0.049 3.767 -9.46 -3.960 -1.598 1.974 -0.048509 NA 0.47 1 0.996585 NA 0.993 NA 7.3336334 927 19 1094004 1094004 G A exonic POLR2E NA nonsynonymous SNV POLR2E:NM_002695:exon2:c.C131T:p.S44F exonic ENSG00000099817 NA nonsynonymous SNV ENSG00000099817:ENST00000215587:exon2:c.C131T:p.S44F,ENSG00000099817:ENST00000586746:exon2:c.C131T:p.S44F Score=544;Name=lod=217 NA 19p13.3 NA NA NA NA rs12459404 1 1 1 1 1 1 1 1 1 0.99 1 1 1 0.9999 1 1 T 0.0 B 0.0 B 0.000 N 0.999 P -2.92 N 1.25 T -0.975 T 0.000 T 0.211 -0.044 3.791 3.64 0.491 5.267 8.170 -0.043633 NA 1 0.999884 1 NA 0.993 NA 7.3335494 927 11 64677293 64677293 G C exonic ATG2A NA nonsynonymous SNV ATG2A:NM_015104:exon14:c.C1967G:p.P656R exonic ENSG00000110046 NA nonsynonymous SNV ENSG00000110046:ENST00000377264:exon14:c.C1967G:p.P656R,ENSG00000110046:ENST00000421419:exon14:c.C1967G:p.P656R NA NA 11q13.1 NA NA NA NA rs656195 1 1 1 0.998602 1 1 0.9986 0.9955 1 1 1 1 1 0.9998 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.795 N 3.52 T -0.972 T 0.000 T 0.227 -0.638 1.182 4.67 1.342 0.966 11.152 -0.63793 NA 0.98 1 0.998405 NA 0.993 NA 7.3335334 927 19 44047826 44047826 T A exonic XRCC1 NA nonsynonymous SNV XRCC1:NM_006297:exon16:c.A1726T:p.N576Y exonic ENSG00000073050 NA nonsynonymous SNV ENSG00000073050:ENST00000543982:exon15:c.A1633T:p.N545Y,ENSG00000073050:ENST00000262887:exon16:c.A1726T:p.N576Y Score=458;Name=lod=97 NA 19q13.31 NA NA NA NA rs2682557 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.004 N 0.998 P -1.955 N -1.25 T -0.944 T 0.000 T 0.286 -0.173 3.158 5.05 0.903 5.779 8.519 -0.172805 NA 1 0.999884 1 NA 0.971 NA 7.3334494 927 22 46677607 46677607 T C exonic TTC38 NA nonsynonymous SNV TTC38:NM_017931:exon7:c.T727C:p.F243L exonic ENSG00000075234 NA nonsynonymous SNV ENSG00000075234:ENST00000445282:exon6:c.T553C:p.F185L,ENSG00000075234:ENST00000381031:exon7:c.T727C:p.F243L Score=443;Name=lod=84 NA 22q13.31 NA NA NA NA rs130642 1 1 0.998 0.999601 1 1 1 0.9985 1 1 1 1 1 0.9999 1 0.81 T 0.0 B 0.001 B 0.000 N 1.000 P 0 N 1.97 T -0.945 T 0.000 T 0.393 1.981 12.58 3.65 0.304 1.157 8.937 1.981053 1.981053 0.38 1 0.999278 NA 1 NA 7.3334334 927 1 17991052 17991052 T C exonic ARHGEF10L NA nonsynonymous SNV ARHGEF10L:NM_001011722:exon24:c.T2854C:p.W952R,ARHGEF10L:NM_018125:exon26:c.T2971C:p.W991R exonic ENSG00000074964 NA nonsynonymous SNV ENSG00000074964:ENST00000167825:exon15:c.T2080C:p.W694R,ENSG00000074964:ENST00000375408:exon17:c.T2290C:p.W764R,ENSG00000074964:ENST00000375415:exon24:c.T2854C:p.W952R,ENSG00000074964:ENST00000434513:exon25:c.T2956C:p.W986R,ENSG00000074964:ENST00000452522:exon25:c.T2854C:p.W952R,ENSG00000074964:ENST00000361221:exon26:c.T2971C:p.W991R Score=539;Name=lod=206 NA 1p36.13 NA Name=CTCF NA NA rs6695710 1 1 1 0.9998 1 1 1 0.9992 1 1 1 1 1 1 1 0.89 T 0.0 B 0.0 B 0.011 N 0.000 P -1.905 N 1.69 T -0.995 T 0.000 T 0.241 -0.02 3.913 3.15 0.172 0.263 6.130 -0.01964 NA 0.89 1 0.999319 NA 1 NA 7.3333334 927 2 38179134 38179134 G A exonic RMDN2 NA nonsynonymous SNV RMDN2:NM_144713:exon2:c.G776A:p.G259D exonic ENSG00000115841 NA nonsynonymous SNV ENSG00000115841:ENST00000234195:exon2:c.G776A:p.G259D,ENSG00000115841:ENST00000402091:exon2:c.G776A:p.G259D,ENSG00000115841:ENST00000407257:exon2:c.G776A:p.G259D NA NA 2p22.2 NA NA NA NA rs4670800 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.539 N 1.000 P -0.695 N 0.95 T -0.986 T 0.000 T 0.067 -1.28 0.042 -3.03 -0.650 -1.046 3.809 -1.279746 NA 0.77 NA NA NA 1 NA 7.3333334 927 2 220250147 220250147 A G exonic DNPEP NA nonsynonymous SNV DNPEP:NM_012100:exon8:c.T773C:p.V258A exonic ENSG00000123992 NA nonsynonymous SNV ENSG00000123992:ENST00000273075:exon8:c.T773C:p.V258A,ENSG00000123992:ENST00000429013:exon8:c.T731C:p.V244A,ENSG00000123992:ENST00000523282:exon8:c.T797C:p.V266A,ENSG00000123992:ENST00000373972:exon9:c.T548C:p.V183A Score=446;Name=lod=87 NA 2q35 NA NA NA NA rs907679 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.74 T 0.0 B 0.0 B 0.000 N 1.000 P . . . . -0.955 T 0.000 T 0.159 0.744 7.948 2.29 0.559 3.004 9.651 0.744318 NA 1 1 0.999755 NA 1 NA 7.3333334 927 4 169336662 169336662 T C exonic DDX60L NA nonsynonymous SNV DDX60L:NM_001012967:exon22:c.A2876G:p.Y959C exonic ENSG00000181381 NA nonsynonymous SNV ENSG00000181381:ENST00000505863:exon15:c.A1964G:p.Y655C,ENSG00000181381:ENST00000260184:exon22:c.A2876G:p.Y959C,ENSG00000181381:ENST00000505890:exon22:c.A2876G:p.Y959C,ENSG00000181381:ENST00000511577:exon22:c.A2876G:p.Y959C Score=409;Name=lod=61 NA 4q32.3 NA NA NA NA rs4692661 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.12 T 0.128 B 0.117 B 0.255 N 1.000 P 1.04 L 2.76 T -1.049 T 0.000 T 0.305 -0.536 1.562 0.475 -0.563 2.439 8.664 -0.536382 NA 0.07 NA NA NA 1 NA 7.3333334 927 11 314207 314207 C G exonic IFITM1 NA nonsynonymous SNV IFITM1:NM_003641:exon1:c.C37G:p.P13A exonic ENSG00000185885 NA nonsynonymous SNV ENSG00000185885:ENST00000408968:exon1:c.C37G:p.P13A,ENSG00000185885:ENST00000328221:exon2:c.C37G:p.P13A,ENSG00000185885:ENST00000528780:exon2:c.C37G:p.P13A NA NA 11p15.5 NA Name=Oct-2,Pol2(b),PU.1,Pol2,POU2F2,NFKB,TAF1,Pol2-4H8,ETS1,STAT1 NA NA rs9667990 0.92 0.92 1 1 1 1 1 1 1 0.92 0.94 0.95 0.9 1 0.99 1 T 0.0 B 0.0 B 0.356 N 1.000 P -2.43 N -1.16 T -0.966 T 0.000 T 0.104 -1.377 0.025 2.02 0.592 0.320 3.796 -1.376589 NA 1 NA NA NA 0.986 NA 7.3333334 927 15 93588336 93588336 A C exonic RGMA NA nonsynonymous SNV RGMA:NM_001166286:exon3:c.T1197G:p.D399E,RGMA:NM_001166283:exon4:c.T1269G:p.D423E,RGMA:NM_001166287:exon4:c.T1197G:p.D399E,RGMA:NM_001166288:exon4:c.T1197G:p.D399E,RGMA:NM_001166289:exon4:c.T1197G:p.D399E,RGMA:NM_020211:exon4:c.T1245G:p.D415E exonic ENSG00000182175 NA nonsynonymous SNV ENSG00000182175:ENST00000542321:exon3:c.T1197G:p.D399E,ENSG00000182175:ENST00000329082:exon4:c.T1245G:p.D415E,ENSG00000182175:ENST00000425933:exon4:c.T1197G:p.D399E,ENSG00000182175:ENST00000543599:exon4:c.T1197G:p.D399E,ENSG00000182175:ENST00000557301:exon4:c.T1269G:p.D423E,ENSG00000182175:ENST00000538818:exon5:c.T918G:p.D306E,ENSG00000182175:ENST00000556658:exon5:c.T918G:p.D306E Score=454;Name=lod=93 NA 15q26.1 NA NA NA NA rs4238485 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 0.000 P -1.79 N -2.22 D -0.966 T 0.000 T 0.093 -0.661 1.101 -0.091 -0.150 0.136 5.063 -0.661155 NA 1 NA NA NA 1 NA 7.3333334 927 17 41960633 41960633 C G exonic MPP2 NA nonsynonymous SNV MPP2:NM_005374:exon4:c.G241C:p.V81L exonic ENSG00000108852 NA nonsynonymous SNV ENSG00000108852:ENST00000377184:exon3:c.G292C:p.V98L,ENSG00000108852:ENST00000523220:exon3:c.G190C:p.V64L,ENSG00000108852:ENST00000523501:exon3:c.G208C:p.V70L,ENSG00000108852:ENST00000523762:exon3:c.G208C:p.V70L,ENSG00000108852:ENST00000536246:exon3:c.G208C:p.V70L,ENSG00000108852:ENST00000269095:exon4:c.G241C:p.V81L,ENSG00000108852:ENST00000518766:exon4:c.G376C:p.V126L,ENSG00000108852:ENST00000520241:exon4:c.G259C:p.V87L,ENSG00000108852:ENST00000520406:exon4:c.G241C:p.V81L,ENSG00000108852:ENST00000523934:exon4:c.G241C:p.V81L,ENSG00000108852:ENST00000461854:exon5:c.G313C:p.V105L,ENSG00000108852:ENST00000521178:exon5:c.G241C:p.V81L Score=265;Name=lod=16 NA 17q21.31 NA NA NA NA rs412849 0.82 0.82 0.98 1 1 1 1 1 1 0.81 0.86 0.88 0.76 1 0.88 0.83 T 0.0 B 0.002 B . . 0.000 P -0.345 N 3.2 T -0.992 T 0.000 T 0.26 -1.173 0.087 4.03 0.930 0.435 10.507 -1.173283 NA 0.04 NA NA NA NA NA 7.3333334 927 17 41960634 41960634 G C exonic MPP2 NA nonsynonymous SNV MPP2:NM_005374:exon4:c.C240G:p.H80Q exonic ENSG00000108852 NA nonsynonymous SNV ENSG00000108852:ENST00000377184:exon3:c.C291G:p.H97Q,ENSG00000108852:ENST00000523220:exon3:c.C189G:p.H63Q,ENSG00000108852:ENST00000523501:exon3:c.C207G:p.H69Q,ENSG00000108852:ENST00000523762:exon3:c.C207G:p.H69Q,ENSG00000108852:ENST00000536246:exon3:c.C207G:p.H69Q,ENSG00000108852:ENST00000269095:exon4:c.C240G:p.H80Q,ENSG00000108852:ENST00000518766:exon4:c.C375G:p.H125Q,ENSG00000108852:ENST00000520241:exon4:c.C258G:p.H86Q,ENSG00000108852:ENST00000520406:exon4:c.C240G:p.H80Q,ENSG00000108852:ENST00000523934:exon4:c.C240G:p.H80Q,ENSG00000108852:ENST00000461854:exon5:c.C312G:p.H104Q,ENSG00000108852:ENST00000521178:exon5:c.C240G:p.H80Q NA NA 17q21.31 NA NA NA NA rs440755 0.83 0.83 1 1 1 1 1 1 1 0.82 0.86 0.89 0.78 1 0.89 0.73 T 0.001 B 0.001 B . . 0.000 P 0 N 3.24 T -0.994 T 0.000 T 0.226 -1.034 0.215 3.03 0.354 1.440 2.628 -1.033605 NA 0 NA NA NA NA NA 7.3333334 927 19 5135392 5135392 A G exonic KDM4B NA nonsynonymous SNV KDM4B:NM_015015:exon15:c.A2128G:p.K710E exonic ENSG00000127663 NA nonsynonymous SNV ENSG00000127663:ENST00000159111:exon15:c.A2128G:p.K710E,ENSG00000127663:ENST00000536461:exon15:c.A2230G:p.K744E NA NA 19p13.3 NA NA NA NA rs2620836 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.612 N 1.000 P -1.04 N 2.38 T -0.987 T 0.000 T 0.077 -1.051 0.193 3.81 0.599 2.498 9.738 -1.051296 NA 1 NA NA NA 0.993 NA 7.3333334 927 19 15508362 15508362 G C exonic AKAP8L NA nonsynonymous SNV AKAP8L:NM_014371:exon11:c.C1374G:p.H458Q exonic ENSG00000011243 NA nonsynonymous SNV ENSG00000011243:ENST00000397410:exon11:c.C1374G:p.H458Q,ENSG00000011243:ENST00000595465:exon11:c.C1191G:p.H397Q Score=533;Name=lod=196 NA 19p13.12 Score=807;Name=V$PBX1_02 NA NA NA rs2058322 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.46 T 0.0 B 0.0 B 0.000 N 1.000 P -1.1 N 1.06 T -1.021 T 0.000 T 0.051 -0.512 1.657 1.43 -0.136 0.337 4.613 -0.512488 NA 0.4 NA NA NA 1 NA 7.3333334 927 21 38444863 38444863 C T exonic PIGP NA nonsynonymous SNV PIGP:NM_153681:exon1:c.G25A:p.A9T exonic ENSG00000185808 NA nonsynonymous SNV ENSG00000185808:ENST00000464265:exon1:c.G25A:p.A9T NA NA 21q22.13 NA Name=YY1,Egr-1,AP-2gamma,TBP,CCNT2,YY1_(C-20),E2F1,Pol2-4H8,TAF1,HMGN3,E2F6_(H-50),HA-E2F1,Pol2 Name=136 NA rs2507733 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T . . . . 0.428 N 1.000 P . . 1.84 T -0.965 T 0.000 T 0.05 0.06 4.327 0.406 0.194 0.654 1.071 0.060104 NA NA NA NA NA 0.993 NA 7.3333334 927 22 39497509 39497509 A G exonic APOBEC3H NA nonsynonymous SNV APOBEC3H:NM_001166002:exon3:c.A418G:p.K140E,APOBEC3H:NM_001166003:exon3:c.A418G:p.K140E,APOBEC3H:NM_001166004:exon3:c.A418G:p.N140D,APOBEC3H:NM_181773:exon3:c.A418G:p.K140E exonic ENSG00000100298 NA nonsynonymous SNV ENSG00000100298:ENST00000348946:exon3:c.A418G:p.K140E,ENSG00000100298:ENST00000401756:exon3:c.A418G:p.K140E,ENSG00000100298:ENST00000421988:exon3:c.A418G:p.N140D,ENSG00000100298:ENST00000442487:exon3:c.A418G:p.K140E NA NA 22q13.1 NA NA Name=3 NA rs139300 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.18 T . . . . . . 1.000 P -2.625 N 0.06 T -0.944 T 0.000 T 0.006 -1.195 0.075 2.28 0.408 0.458 4.721 -1.195025 NA 1 NA NA NA 0.261 NA 7.3333334 927 11 62494066 62494066 C T ncRNA_intronic HNRNPUL2-BSCL2 NA NA NA intronic ENSG00000214753,ENSG00000234857 NA NA NA Score=548;Name=lod=224 NA 11q12.3 NA Name=BAF155 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 1.950669 1.950669 NA NA NA NA NA NA 7.3332333 927 19 45998247 45998247 A G exonic RTN2 NA synonymous SNV RTN2:NM_005619:exon3:c.T96C:p.S32S,RTN2:NM_206900:exon3:c.T96C:p.S32S exonic ENSG00000125744 NA synonymous SNV ENSG00000125744:ENST00000245923:exon3:c.T96C:p.S32S,ENSG00000125744:ENST00000344680:exon3:c.T96C:p.S32S,ENSG00000125744:ENST00000587597:exon3:c.T96C:p.S32S,ENSG00000125744:ENST00000591286:exon3:c.T96C:p.S32S NA NA 19q13.32 Score=791;Name=V$GFI1_01 NA NA NA rs10401270 0.15 0.15 0.108 0.152756 0.0984 0.2183 0.1326 0.1505 0.1585 0.11 0.16 0.15 0.2 0.1322 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.065592 NA NA 0.103372 0.144803 NA 0.101 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118192.2;CLNDSDB=.;CLNDSDBID=. 7.3326946 927 1 7723957 7723957 G A exonic CAMTA1 NA synonymous SNV CAMTA1:NM_015215:exon9:c.G1350A:p.S450S exonic ENSG00000171735 NA synonymous SNV ENSG00000171735:ENST00000303635:exon9:c.G1350A:p.S450S,ENSG00000171735:ENST00000439411:exon9:c.G1350A:p.S450S Score=635;Name=lod=508 NA 1p36.23 Score=769;Name=V$NRSF_01 NA NA NA rs12128526 0.4 0.4 0.407 0.40016 0.4304 0.3313 0.4539 0.3873 0.4192 0.45 0.34 0.43 0.38 0.445 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10179 NA NA 0.458605 0.374035 NA 0.478 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116536.2;CLNDSDB=.;CLNDSDBID=. 7.3326616 927 X 150817094 150817094 C G exonic PASD1 NA nonsynonymous SNV PASD1:NM_173493:exon9:c.C637G:p.Q213E exonic ENSG00000166049 NA nonsynonymous SNV ENSG00000166049:ENST00000370357:exon9:c.C637G:p.Q213E NA NA Xq28 NA NA NA NA rs5924658 0.15 0.15 0.15103 NA NA NA NA NA NA 0.3 0.03 0.18 0.02 0.2241 0.3 0.19 T 0.736 P 0.206 B . . 1.000 P 0.805 L -0.51 T -1.092 T 0.000 T 0.039 1.296 10.24 1.12 -0.009 -0.766 4.082 1.296431 1.296431 0 0.276605 0.04146 NA 0.123 NA 7.3326284 927 X 106200202 106200202 G A exonic MORC4 NA nonsynonymous SNV MORC4:NM_001085354:exon12:c.C1418T:p.T473I,MORC4:NM_024657:exon12:c.C1418T:p.T473I exonic ENSG00000133131 NA nonsynonymous SNV ENSG00000133131:ENST00000535534:exon11:c.C662T:p.T221I,ENSG00000133131:ENST00000255495:exon12:c.C1418T:p.T473I,ENSG00000133131:ENST00000355610:exon12:c.C1418T:p.T473I NA NA Xq22.3 NA NA NA NA rs6622126 0.71 0.71 0.70032 NA NA NA NA NA NA 0.43 0.95 0.7 0.86 0.5719 0.95 0.19 T 0.0 B 0.0 B 0.793 N 1.000 P -0.805 N 2.74 T -1.010 T 0.000 T 0.05 -2.304 0.004 -3.74 -0.938 -0.704 0.387 -2.304218 NA 0.15 0.429548 0.813299 NA 0.536 NA 7.3318854 927 14 77332408 77332408 T C exonic C14orf166B NA nonsynonymous SNV C14orf166B:NM_194287:exon12:c.T1349C:p.V450A exonic ENSG00000100565 NA nonsynonymous SNV ENSG00000100565:ENST00000393774:exon12:c.T1349C:p.V450A NA NA 14q24.3 Score=801;Name=V$STAT3_01 NA NA NA rs7160583 0.24 0.24 0.245 0.228634 0.329 0.0853 0.3343 0.2216 0.2076 0.34 0.08 0.34 0.22 0.3332 0.34 1 T 0.0 B 0.0 B 0.304 N 1.000 P -1.375 N 3.25 T -0.920 T 0.000 T 0.009 -1.222 0.062 0.535 -0.099 0.261 7.827 -1.221788 NA 1 0.339273 0.217548 NA 0.319 NA 7.3318604 927 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 927 2 224810031 224810031 G C UTR5 WDFY1 NM_020830:c.-30C>G NA NA UTR5 ENSG00000085449 ENST00000233055:c.-30C>G,ENST00000429915:c.-30C>G NA NA NA NA 2q36.1 Score=829;Name=V$EGR1_01 Name=Sin3Ak-20,GATA3_(SC-268),NRSF,YY1_(C-20),TCF4,SP1,Oct-2,ZNF263,JunD,AP-2gamma,Egr-1,CCNT2,TBP,ZBTB7A_(SC-34508),YY1,TAF7_(SQ-8),HDAC2_(SC-6296),Ini1,p300,E2F6_(H-50),MafK_(ab50322),POU2F2,USF-1,FOSL2,Pol2,USF2,CHD2_(N-1250),HA-E2F1,USF1_(SC-8983),FOXA1_(SC-101058),HNF4G_(SC-6558),ETS1,ELF1_(SC-631),HEY1,E2F1,BCLAF1_(M33-P5B11),GATA-1,Pbx3,NFKB,TAF1,RFX5_(N-494),HMGN3,GABP,Pol2-4H8 Name=144 NA rs200521814 0.0018 0.0018 NA 0.000399361 0.002 NA NA NA NA 0.01 NA NA NA 0.0001 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.258671 1.258671 NA NA NA NA NA NA 7.3312334 927 18 60227833 60227833 T C exonic ZCCHC2 NA synonymous SNV ZCCHC2:NM_017742:exon8:c.T1506C:p.H502H exonic ENSG00000141664 NA synonymous SNV ENSG00000141664:ENST00000586834:exon7:c.T543C:p.H181H,ENSG00000141664:ENST00000269499:exon8:c.T1506C:p.H502H Score=422;Name=lod=69 NA 18q21.33 Score=852;Name=V$CEBP_C NA NA NA rs17070100 0.1 0.1 0.109 0.113019 0.1103 0.003 0.0908 0.2322 0.0838 0.11 NA 0.1 0.21 0.1116 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.232312 NA NA 0.114428 0.221206 NA 0.145 NA 7.3303386 927 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$COUP_01 NA NA NA rs10966 0.56 0.56 0.555 0.541534 0.4374 0.9107 0.3516 0.4629 0.5092 0.44 0.93 0.35 0.46 0.4632 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066021 NA NA 0.436512 0.450976 NA 0.486 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116214.2;CLNDSDB=.;CLNDSDBID=. 7.3295546 927 17 27889986 27889986 T C exonic ABHD15 NA nonsynonymous SNV ABHD15:NM_198147:exon2:c.A1000G:p.T334A exonic ENSG00000168792 NA nonsynonymous SNV ENSG00000168792:ENST00000307201:exon2:c.A1000G:p.T334A Score=562;Name=lod=257 NA 17q11.2 NA NA NA NA rs542939 0.76 0.76 0.763 0.767971 0.6531 0.8998 0.6585 0.8109 0.7699 0.67 0.91 0.67 0.8 0.695 0.91 0.37 T 0.04 B 0.028 B 0.082 N 0.997 P -0.46 N 2.84 T -1.065 T 0.000 T 0.063 1.001 9.089 2.57 0.510 0.092 7.814 1.001241 NA NA 0.656047 0.768951 NA 0.746 NA 7.3291864 927 19 44652954 44652954 G A exonic ZNF234 NA nonsynonymous SNV ZNF234:NM_001144824:exon4:c.G46A:p.V16I,ZNF234:NM_006630:exon4:c.G46A:p.V16I exonic ENSG00000263002 NA nonsynonymous SNV ENSG00000263002:ENST00000426739:exon4:c.G46A:p.V16I,ENSG00000263002:ENST00000590795:exon4:c.G46A:p.V16I,ENSG00000263002:ENST00000592437:exon4:c.G46A:p.V16I Score=381;Name=lod=47 NA 19q13.31 NA NA NA NA rs2293587 0.33 0.33 0.271 0.322284 0.3121 0.4008 0.2767 0.2988 0.316 0.31 0.4 0.31 0.3 0.3399 0.4 0.21 T 0.183 B 0.096 B . . 1.000 P 1.15 L 4.67 T -0.974 T 0.000 T 0.023 1.628 11.4 -1.13 -0.212 0.782 5.080 1.628303 1.628303 0.27 0.352209 0.278711 NA 0.399 NA 7.3291244 927 3 167164187 167164187 A G exonic SERPINI2 NA synonymous SNV SERPINI2:NM_006217:exon8:c.T1134C:p.N378N,SERPINI2:NM_001012303:exon9:c.T1164C:p.N388N exonic ENSG00000114204 NA synonymous SNV ENSG00000114204:ENST00000471111:exon7:c.T1134C:p.N378N,ENSG00000114204:ENST00000264677:exon8:c.T1134C:p.N378N,ENSG00000114204:ENST00000461846:exon8:c.T1134C:p.N378N,ENSG00000114204:ENST00000476257:exon9:c.T1134C:p.N378N Score=489;Name=lod=129 NA 3q26.1 Score=746;Name=V$TAXCREB_02 NA NA NA rs2272138 0.24 0.24 0.23 0.236022 0.0924 0.2927 0.2277 0.4251 0.0757 0.1 0.31 0.2 0.42 0.1499 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.957647 NA NA 0.096069 0.39015 NA 0.188 NA 7.3282976 927 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 927 11 71169547 71169547 G C exonic NADSYN1 NA nonsynonymous SNV NADSYN1:NM_018161:exon3:c.G220C:p.V74L exonic ENSG00000172890 NA nonsynonymous SNV ENSG00000172890:ENST00000319023:exon3:c.G220C:p.V74L,ENSG00000172890:ENST00000528509:exon3:c.G220C:p.V74L,ENSG00000172890:ENST00000529120:exon3:c.G220C:p.V74L NA NA 11q13.4 NA NA NA NA rs2276360 0.51 0.51 0.527 0.403954 0.7018 0.381 0.4697 0.3472 0.1513 0.71 0.42 0.48 0.34 0.5599 0.74 1 T 0.0 B 0.001 B 0.000 N 0.000 P -1.875 N -2.22 D -0.992 T 0.000 T 0.62 -0.59 1.356 -2.34 -0.823 0.274 6.666 -0.59015 NA 1 0.744411 0.425909 NA 0.594 NA 7.3272224 927 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 927 4 100443782 100443782 T C exonic C4orf17 NA nonsynonymous SNV C4orf17:NM_032149:exon3:c.T253C:p.S85P exonic ENSG00000138813 NA nonsynonymous SNV ENSG00000138813:ENST00000326581:exon3:c.T253C:p.S85P,ENSG00000138813:ENST00000477187:exon3:c.T253C:p.S85P,ENSG00000138813:ENST00000514652:exon3:c.T253C:p.S85P NA NA 4q23 NA NA NA NA rs13119384 0.48 0.48 0.416 0.57528 0.3638 0.4018 0.3516 0.9319 0.6483 0.35 0.34 0.37 0.93 0.4333 0.93 0.36 T 0.0 B 0.0 B 0.402 N 1.000 P -1.7 N 2.36 T -1.016 T 0.000 T 0.058 -0.787 0.713 3.34 0.778 0.160 3.269 -0.786566 NA 1 0.21 0.795279 NA 0.319 NA 7.3262334 927 6 170162537 170162537 C T exonic C6orf70 NA synonymous SNV C6orf70:NM_018341:exon9:c.C870T:p.C290C exonic ENSG00000130023 NA synonymous SNV ENSG00000130023:ENST00000392095:exon8:c.C492T:p.C164C,ENSG00000130023:ENST00000366772:exon9:c.C870T:p.C290C,ENSG00000130023:ENST00000366773:exon9:c.C870T:p.C290C,ENSG00000130023:ENST00000418781:exon9:c.C870T:p.C290C,ENSG00000130023:ENST00000588451:exon9:c.C492T:p.C164C Score=399;Name=lod=56 NA 6q27 NA Name=MafK_(ab50322) NA NA rs11966349 0.18 0.18 0.186 0.201078 0.1014 0.2738 0.17 0.2436 0.1933 0.11 0.27 0.16 0.21 0.145 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.596715 NA NA 0.094884 0.240581 NA 0.188 NA 7.3253826 928 7 73279482 73279482 T C exonic WBSCR28 NA nonsynonymous SNV WBSCR28:NM_182504:exon2:c.T232C:p.W78R exonic ENSG00000175877 NA nonsynonymous SNV ENSG00000175877:ENST00000320531:exon2:c.T232C:p.W78R NA NA 7q11.23 NA NA Name=4 NA rs13227841 0.57 0.57 0.557 0.561701 0.6769 0.6498 0.5893 0.3336 0.6411 0.69 0.63 0.56 0.34 0.6386 0.69 1 T 0.0 B 0.0 B 0.187 N 1.000 P -0.625 N 2.64 T -0.976 T 0.000 T 0.029 -1.64 0.013 -3.02 -0.665 0.305 0.146 -1.639947 NA 1 0.692861 0.431373 NA 0.377 NA 7.3249724 928 10 88422116 88422116 C T exonic OPN4 NA nonsynonymous SNV OPN4:NM_033282:exon8:c.C1181T:p.T394I,OPN4:NM_001030015:exon9:c.C1214T:p.T405I exonic ENSG00000122375 NA nonsynonymous SNV ENSG00000122375:ENST00000241891:exon8:c.C1181T:p.T394I,ENSG00000122375:ENST00000372071:exon9:c.C1214T:p.T405I,ENSG00000122375:ENST00000443292:exon9:c.C1214T:p.T405I Score=446;Name=lod=87 NA 10q23.2 NA NA NA NA rs1079610 0.73 0.73 0.72 0.753195 0.6342 0.7927 0.7565 0.7965 0.774 0.63 0.8 0.76 0.81 0.7285 0.81 0.52 T 0.001 B 0.003 B 0.041 N 0.999 P 1.2 L 1.47 T -1.018 T 0.000 T 0.305 -0.31 2.522 1.06 -0.014 2.962 10.994 -0.310413 NA 0.56 0.645702 0.767865 NA 0.638 NA 7.3249314 928 20 52781091 52781091 C T exonic CYP24A1 NA synonymous SNV CYP24A1:NM_000782:exon6:c.G744A:p.T248T,CYP24A1:NM_001128915:exon6:c.G744A:p.T248T exonic ENSG00000019186 NA synonymous SNV ENSG00000019186:ENST00000395954:exon4:c.G318A:p.T106T,ENSG00000019186:ENST00000216862:exon6:c.G744A:p.T248T,ENSG00000019186:ENST00000395955:exon6:c.G744A:p.T248T NA NA 20q13.2 Score=724;Name=V$SRF_01 Name=Pol2 NA NA rs6068816 0.16 0.16 0.157 0.165535 0.1153 0.3879 0.121 0.0303 0.2025 0.11 0.39 0.1 0.02 0.1229 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.783559 NA NA 0.103837 0.046527 NA 0.109 NA 7.3246296 928 5 71494906 71494906 G A exonic MAP1B NA synonymous SNV MAP1B:NM_005909:exon5:c.G5724A:p.K1908K exonic ENSG00000131711 NA synonymous SNV ENSG00000131711:ENST00000296755:exon5:c.G5724A:p.K1908K Score=415;Name=lod=65 NA 5q13.2 Score=852;Name=V$EVI1_02 NA NA NA rs61734262 0.08 0.08 0.085 0.0822684 0.1173 0.0317 0.0461 0.1021 0.0971 0.13 0.03 0.05 0.08 0.1066 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170607 NA NA 0.118488 0.109396 NA 0.145 NA 7.3242786 928 1 161967681 161967681 A G exonic OLFML2B NA nonsynonymous SNV OLFML2B:NM_015441:exon6:c.T1408C:p.W470R exonic ENSG00000162745 NA nonsynonymous SNV ENSG00000162745:ENST00000294794:exon6:c.T1408C:p.W470R,ENSG00000162745:ENST00000367940:exon6:c.T1411C:p.W471R NA NA 1q23.3 NA NA NA NA rs2499836 0.67 0.67 0.665 0.633187 0.671 0.6587 0.6816 0.5756 0.6115 0.68 0.7 0.73 0.56 0.6577 0.73 0.56 T 0.0 B 0.0 B . . 1.000 P 0 N -2.06 D -1.082 T 0.130 T 0.11 -0.184 3.104 2.8 0.815 0.514 4.305 -0.184161 NA 0.77 0.680814 0.602133 NA 0.543 NA 7.3238194 928 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 928 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=Rad21,SMC3_(ab9263),FOXA1_(C-20),CTCF,CTCF_(C-20) 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 928 3 186337713 186337713 T C exonic AHSG NA nonsynonymous SNV AHSG:NM_001622:exon6:c.T743C:p.M248T exonic ENSG00000145192 NA nonsynonymous SNV ENSG00000145192:ENST00000273784:exon6:c.T746C:p.M249T,ENSG00000145192:ENST00000411641:exon6:c.T743C:p.M248T NA NA 3q27.3 NA Name=HEY1 NA NA rs4917 0.71 0.71 0.715 0.735423 0.6759 0.745 0.5965 0.7867 0.816 0.65 0.76 0.67 0.75 0.683 0.76 1 T 0.0 B 0.0 B 0.620 N 1.000 P . . 3.7 T -1.000 T 0.000 T 0.049 -1.446 0.02 -0.913 -0.293 -0.507 3.826 -1.446053 NA 1 0.651977 0.74966 NA 0.754 CLINSIG=other;CLNDBN=Leanness\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000017418.1;CLNDSDB=.;CLNDSDBID=. 7.3224564 928 15 75305040 75305040 A G exonic SCAMP5 NA synonymous SNV SCAMP5:NM_138967:exon3:c.A30G:p.P10P,SCAMP5:NM_001178111:exon4:c.A30G:p.P10P,SCAMP5:NM_001178112:exon4:c.A30G:p.P10P exonic ENSG00000198794 NA synonymous SNV ENSG00000198794:ENST00000567529:exon2:c.A30G:p.P10P,ENSG00000198794:ENST00000425597:exon3:c.A30G:p.P10P,ENSG00000198794:ENST00000562212:exon3:c.A30G:p.P10P,ENSG00000198794:ENST00000562765:exon3:c.A30G:p.P10P,ENSG00000198794:ENST00000564779:exon3:c.A30G:p.P10P,ENSG00000198794:ENST00000565989:exon3:c.A30G:p.P10P,ENSG00000198794:ENST00000568423:exon3:c.A30G:p.P10P,ENSG00000198794:ENST00000361900:exon4:c.A30G:p.P10P,ENSG00000198794:ENST00000562327:exon4:c.A30G:p.P10P,ENSG00000198794:ENST00000564491:exon4:c.A30G:p.P10P,ENSG00000198794:ENST00000567920:exon4:c.A30G:p.P10P,ENSG00000198794:ENST00000568018:exon4:c.A30G:p.P10P,ENSG00000198794:ENST00000568119:exon4:c.A30G:p.P10P,ENSG00000198794:ENST00000566872:exon5:c.A30G:p.P10P NA NA 15q24.2 Score=922;Name=V$CEBPA_01 Name=CEBPB NA NA rs7174129 0.26 0.26 0.268 0.324481 0.0865 0.4077 0.1499 0.4357 0.4571 0.09 0.41 0.14 0.41 0.1857 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022565 NA NA 0.072125 0.36324 NA 0.261 NA 7.3223416 928 11 34680400 34680400 T A exonic EHF NA synonymous SNV EHF:NM_001206615:exon8:c.T756A:p.I252I,EHF:NM_001206616:exon9:c.T891A:p.I297I,EHF:NM_012153:exon9:c.T825A:p.I275I exonic ENSG00000135373 NA synonymous SNV ENSG00000135373:ENST00000450654:exon8:c.T756A:p.I252I,ENSG00000135373:ENST00000257831:exon9:c.T825A:p.I275I,ENSG00000135373:ENST00000530286:exon9:c.T825A:p.I275I,ENSG00000135373:ENST00000531794:exon9:c.T891A:p.I297I,ENSG00000135373:ENST00000533754:exon9:c.T825A:p.I275I Score=581;Name=lod=306 NA 11p13 NA Name=FOXA2_(SC-6554),FOXA1_(C-20),FOXA1_(SC-101058) NA NA rs286891 0.09 0.09 0.085 0.131989 0.1193 0.1319 0.0663 0.0575 0.2924 0.11 0.11 0.08 0.05 0.1263 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 1.201134 NA NA 0.098883 0.056767 NA 0.181 NA 7.3221836 928 17 42225547 42225547 A C exonic C17orf53 NA nonsynonymous SNV C17orf53:NM_001171251:exon3:c.A376C:p.T126P,C17orf53:NM_024032:exon3:c.A376C:p.T126P exonic ENSG00000125319 NA nonsynonymous SNV ENSG00000125319:ENST00000245382:exon3:c.A376C:p.T126P,ENSG00000125319:ENST00000319977:exon3:c.A376C:p.T126P,ENSG00000125319:ENST00000585683:exon3:c.A376C:p.T126P NA Name=Bone mineral density (hip),Bone mineral density 17q21.31 NA NA NA NA rs227584 0.57 0.57 0.589 0.576478 0.2992 0.7589 0.4582 0.9047 0.3139 0.31 0.74 0.41 0.9 0.402 0.9 1 T 0.0 B 0.0 B 0.531 N 1.000 P -1.67 N 0.97 T -0.987 T 0.000 T 0.059 -0.943 0.355 1.5 0.023 0.105 3.179 -0.94287 NA 0 0.31 0.79369 NA 0.688 NA 7.3221334 928 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 928 X 71493691 71493691 C T exonic RPS4X NA synonymous SNV RPS4X:NM_001007:exon5:c.G492A:p.L164L exonic ENSG00000198034 NA synonymous SNV ENSG00000198034:ENST00000316084:exon5:c.G492A:p.L164L Score=694;Name=lod=882 NA Xq13.1 Score=888;Name=V$CDPCR3HD_01 Name=CTCF_(SC-5916),SP1 NA NA rs7580 0.37 0.37 0.35453 NA NA NA NA NA NA 0.75 0.01 0.51 0.1 0.5794 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.240521 1.240521 NA 0.765685 0.162712 ID=COSM1469302;OCCURENCE=1(large_intestine) 0.275 NA 7.3215816 928 1 159898100 159898100 A G exonic IGSF9 NA synonymous SNV IGSF9:NM_001135050:exon19:c.T3078C:p.S1026S,IGSF9:NM_020789:exon19:c.T3030C:p.S1010S exonic ENSG00000085552 NA synonymous SNV ENSG00000085552:ENST00000361509:exon19:c.T3030C:p.S1010S,ENSG00000085552:ENST00000368094:exon19:c.T3078C:p.S1026S Score=498;Name=lod=141 NA 1q23.2 Score=1000;Name=V$AP2REP_01 Name=CTCF_(C-20),CTCF NA NA rs3747615 0.51 0.51 0.456 0.501597 0.4453 0.6528 0.5403 0.3646 0.5613 0.45 0.71 0.51 0.38 0.488 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.738474 NA NA 0.411834 0.360856 NA 0.464 NA 7.3215326 928 3 10276163 10276163 T A exonic IRAK2 NA nonsynonymous SNV IRAK2:NM_001570:exon11:c.T1293A:p.D431E exonic ENSG00000134070 NA nonsynonymous SNV ENSG00000134070:ENST00000256458:exon11:c.T1293A:p.D431E Score=289;Name=lod=20 NA 3p25.3 Score=871;Name=V$IK3_01 NA NA NA rs708035 0.79 0.79 0.775 0.827077 0.6521 0.9901 0.8098 0.7776 0.9182 0.65 0.99 0.78 0.77 0.7264 0.99 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.83 N -0.1 T -0.985 T 0.000 T 0.066 0.435 6.364 -1.06 -0.558 0.367 5.644 0.435215 NA 1 0.633488 0.764185 ID=COSM445234,COSM445233;OCCURENCE=1(breast) 0.87 NA 7.3213454 928 2 85780536 85780536 C T exonic GGCX NA nonsynonymous SNV GGCX:NM_001142269:exon7:c.G803A:p.R268Q,GGCX:NM_000821:exon8:c.G974A:p.R325Q exonic ENSG00000115486 NA nonsynonymous SNV ENSG00000115486:ENST00000430215:exon7:c.G803A:p.R268Q,ENSG00000115486:ENST00000233838:exon8:c.G974A:p.R325Q NA NA 2p11.2 NA NA NA NA rs699664 0.41 0.41 0.431 0.377796 0.3668 0.3095 0.2695 0.6626 0.1513 0.36 0.33 0.29 0.69 0.3198 0.69 0.67 T 0.007 B 0.004 B 0.938 N 1.000 P 0.6 N -3.0 D -0.957 T 0.000 T 0.123 -0.993 0.271 -0.842 -0.152 -0.117 1.934 -0.992796 NA 0.58 0.326047 0.600999 NA 0.428 NA 7.3206864 928 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 928 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 928 11 118922200 118922200 G A exonic HYOU1 NA synonymous SNV HYOU1:NM_001130991:exon13:c.C1476T:p.N492N,HYOU1:NM_006389:exon13:c.C1476T:p.N492N exonic ENSG00000149428 NA synonymous SNV ENSG00000149428:ENST00000543287:exon12:c.C1215T:p.N405N,ENSG00000149428:ENST00000404233:exon13:c.C1476T:p.N492N,ENSG00000149428:ENST00000529972:exon13:c.C1476T:p.N492N,ENSG00000149428:ENST00000530473:exon13:c.C1476T:p.N492N,ENSG00000149428:ENST00000525859:exon14:c.C1476T:p.N492N Score=612;Name=lod=410 NA 11q23.3 Score=804;Name=V$GFI1_01 NA NA NA rs1804690 0.16 0.16 0.156 0.161741 0.1133 0.2986 0.0562 0.0787 0.2577 0.12 0.34 0.07 0.09 0.1356 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.087057 NA NA 0.098836 0.061364 NA 0.145 NA 7.3189306 928 5 127597518 127597518 G A exonic FBN2 NA synonymous SNV FBN2:NM_001999:exon64:c.C8274T:p.S2758S exonic ENSG00000138829 NA synonymous SNV ENSG00000138829:ENST00000262464:exon64:c.C8274T:p.S2758S,ENSG00000138829:ENST00000508053:exon70:c.C8274T:p.S2758S Score=403;Name=lod=58 NA 5q23.3 NA NA NA NA rs10070365 0.12 0.12 0.117 0.112819 0.1243 0.0476 0.0865 0.1952 0.0757 0.13 0.04 0.11 0.19 0.1043 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 0.31364 NA NA 0.120698 0.1734 NA 0.13 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117034.1|RCV000125084.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.3173686 928 7 99758136 99758136 T G exonic GAL3ST4 NA synonymous SNV GAL3ST4:NM_024637:exon4:c.A876C:p.A292A exonic ENSG00000197093 NA nonsynonymous SNV ENSG00000197093:ENST00000411994:exon2:c.A572C:p.H191P,ENSG00000197093:ENST00000423751:exon3:c.A572C:p.H191P Score=454;Name=lod=93 NA 7q22.1 NA NA NA NA rs3800951 0.52 0.52 0.527 0.543331 0.5606 0.6438 0.4366 0.4622 0.6074 0.57 0.6 0.43 0.41 0.5514 0.6 0 D . . . . . . 0.000 P . . . . -0.936 T 0.000 T . 0.982 9.01 0.712 -0.279 -0.016 3.645 0.982263 NA 0 0.571977 0.503631 NA 0.522 NA 7.316023 928 X 20204461 20204461 G T exonic RPS6KA3 NA synonymous SNV RPS6KA3:NM_004586:exon10:c.C798A:p.L266L exonic ENSG00000177189 NA synonymous SNV ENSG00000177189:ENST00000379548:exon9:c.C711A:p.L237L,ENSG00000177189:ENST00000379565:exon10:c.C798A:p.L266L,ENSG00000177189:ENST00000540702:exon11:c.C714A:p.L238L,ENSG00000177189:ENST00000544447:exon11:c.C714A:p.L238L Score=639;Name=lod=526 NA Xp22.12 NA NA NA NA rs2230488 0.24 0.24 0.24324 NA NA NA NA NA NA 0.18 0.03 0.21 0.58 0.1812 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.806333 NA NA 0.169466 0.478748 NA 0.174 CLINSIG=other|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000081158.3|RCV000127812.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.3160006 929 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 929 17 26696680 26696680 T A exonic VTN NA nonsynonymous SNV VTN:NM_000638:exon3:c.A377T:p.E126V exonic ENSG00000272099 NA nonsynonymous SNV ENSG00000272099:ENST00000226218:exon3:c.A377T:p.E126V NA NA 17q11.2 NA NA NA NA rs112887300 0.0046 0.0046 0.002 0.00239617 0.008 NA 0.0058 NA NA 0.01 NA 0.01 NA 0.0048 0.01 0.29 T 0.011 B 0.003 B 0.547 N 1.000 N 0 N 3.6 T -0.922 T 0.006 T 0.25 1.525 11.05 0.354 -0.133 0.051 2.276 1.525102 1.525102 0.3 0.00593 0.001589 NA NA NA 7.3146034 929 16 89293271 89293271 A C exonic ZNF778 NA nonsynonymous SNV ZNF778:NM_182531:exon6:c.A491C:p.K164T,ZNF778:NM_001201407:exon7:c.A575C:p.K192T exonic ENSG00000170100 NA nonsynonymous SNV ENSG00000170100:ENST00000306502:exon5:c.A365C:p.K122T,ENSG00000170100:ENST00000433976:exon6:c.A491C:p.K164T Score=329;Name=lod=29 NA 16q24.3 NA NA NA NA rs28417933 0.66 0.66 0.632 0.59405 0.8658 0.5556 0.804 0.264 0.6513 0.85 0.58 0.86 0.31 0.7686 0.88 0.02 D 0.736 P 0.094 B . . 0.995 P 0.55 N 3.35 T -1.071 T 0.000 T 0.102 0.561 7.033 0.199 0.257 -0.086 4.823 0.560992 NA 0.28 0.884588 0.386435 NA 0.638 NA 7.3143454 929 13 47127813 47127813 C T exonic LRCH1 NA synonymous SNV LRCH1:NM_001164211:exon1:c.C282T:p.H94H,LRCH1:NM_001164213:exon1:c.C282T:p.H94H,LRCH1:NM_015116:exon1:c.C282T:p.H94H exonic ENSG00000136141 NA synonymous SNV ENSG00000136141:ENST00000311191:exon1:c.C282T:p.H94H,ENSG00000136141:ENST00000389797:exon1:c.C282T:p.H94H,ENSG00000136141:ENST00000389798:exon1:c.C282T:p.H94H Score=509;Name=lod=156 NA 13q14.13 NA NA Name=8 NA rs45540131 0.15 0.15 0.111 0.14996 0.1054 0.1905 0.1268 0.2088 0.091 0.1 0.18 0.13 0.2 0.1443 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.696556 1.696556 NA 0.102663 0.167662 NA 0.188 NA 7.3143036 929 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 929 16 11362729 11362729 G A exonic TNP2 NA nonsynonymous SNV TNP2:NM_005425:exon1:c.C391T:p.R131W exonic ENSG00000178279 NA nonsynonymous SNV ENSG00000178279:ENST00000312693:exon1:c.C391T:p.R131W NA NA 16p13.13 NA NA NA NA rs11640138 0.38 0.38 0.355 0.333267 0.5358 0.2401 0.3487 0.264 0.3037 0.54 0.25 0.4 0.25 0.4509 0.54 0.07 T 0.886 P 0.239 B 0.097 N 0.999 P 1.095 L 0.57 T -0.902 T 0.000 T 0.096 1.22 9.951 1.74 0.546 2.741 5.966 1.220264 NA 0 0.533807 0.272452 NA 0.341 NA 7.3128264 929 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 929 17 29162173 29162173 T C exonic ATAD5 NA synonymous SNV ATAD5:NM_024857:exon2:c.T1074C:p.P358P exonic ENSG00000176208 NA synonymous SNV ENSG00000176208:ENST00000321990:exon2:c.T1074C:p.P358P,ENSG00000176208:ENST00000578295:exon2:c.T1074C:p.P358P Score=391;Name=lod=52 NA 17q11.2 NA Name=GATA-1 NA NA rs11655623 0.15 0.15 0.135 0.180112 0.1083 0.1359 0.1931 0.2027 0.2597 0.09 0.16 0.19 0.2 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 -0.83424 NA NA 0.104535 0.177742 NA 0.181 NA 7.3115316 929 11 125766044 125766044 C A exonic PUS3 NA nonsynonymous SNV PUS3:NM_031307:exon2:c.G136T:p.A46S exonic ENSG00000110060 NA nonsynonymous SNV ENSG00000110060:ENST00000530811:exon1:c.G136T:p.A46S,ENSG00000110060:ENST00000227474:exon2:c.G136T:p.A46S,ENSG00000110060:ENST00000534158:exon2:c.G136T:p.A46S,ENSG00000110060:ENST00000529801:exon3:c.G136T:p.A46S NA NA 11q24.2 NA NA NA NA rs549990 0.66 0.66 0.65 0.63738 0.673 0.6964 0.6023 0.6074 0.6053 0.67 0.7 0.62 0.61 0.6684 0.7 0.84 T 0.0 B 0.0 B 0.257 N 1.000 P -1.04 N 1.55 T -0.939 T 0.000 T 0.075 -2.066 0.006 3.91 1.082 0.706 2.141 -2.066169 NA 0.79 0.681205 0.625852 ID=COSM1127862;OCCURENCE=1(prostate) 0.732 NA 7.3107284 929 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 929 X 153174934 153174934 T G exonic ARHGAP4 NA nonsynonymous SNV ARHGAP4:NM_001666:exon20:c.A2470C:p.S824R,ARHGAP4:NM_001164741:exon21:c.A2590C:p.S864R exonic ENSG00000089820 NA nonsynonymous SNV ENSG00000089820:ENST00000393721:exon17:c.A1936C:p.S646R,ENSG00000089820:ENST00000370016:exon19:c.A2407C:p.S803R,ENSG00000089820:ENST00000350060:exon20:c.A2470C:p.S824R,ENSG00000089820:ENST00000537206:exon20:c.A2401C:p.S801R,ENSG00000089820:ENST00000370028:exon21:c.A2590C:p.S864R NA NA Xq28 NA NA NA NA rs145982906 0.0048 0.0048 NA NA NA NA NA NA NA 0.01 NA 0.0036 0.0027 0.0089 0.015 0.5 T 0.086 B 0.037 B 0.456 N 1.000 N 0.695 N 2.91 T -0.938 T 0.007 T 0.283 1.875 12.23 -1.07 -0.444 -0.858 3.677 1.874696 1.874696 0.21 0.015314 0.002087 NA 0.007 NA 7.3091194 929 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 929 4 169433444 169433444 C T exonic PALLD NA synonymous SNV PALLD:NM_001166108:exon2:c.C789T:p.S263S,PALLD:NM_016081:exon2:c.C789T:p.S263S exonic ENSG00000129116 NA synonymous SNV ENSG00000129116:ENST00000333488:exon1:c.C420T:p.S140S,ENSG00000129116:ENST00000508898:exon1:c.C726T:p.S242S,ENSG00000129116:ENST00000261509:exon2:c.C789T:p.S263S,ENSG00000129116:ENST00000505667:exon2:c.C789T:p.S263S NA NA 4q32.3 NA Name=Rad21,CTCF Name=3 NA rs72695199 0.06 0.06 0.059 0.0573083 0.1173 NA 0.0778 0.0189 0.092 0.12 NA 0.09 0.02 0.1049 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296247 NA NA 0.135814 0.042896 NA 0.08 NA 7.3086526 929 10 105891927 105891927 G C exonic WDR96 NA nonsynonymous SNV WDR96:NM_025145:exon36:c.C4624G:p.L1542V exonic ENSG00000197748 NA nonsynonymous SNV ENSG00000197748:ENST00000428666:exon35:c.C4540G:p.L1514V,ENSG00000197748:ENST00000357060:exon36:c.C4624G:p.L1542V NA NA 10q25.1 NA NA NA NA rs117628923 0.0041 0.0041 0.002 0.00279553 0.0099 NA 0.0029 0.0015 NA 0.01 NA 0.0028 0.002 0.0059 0.01 0.6 T 0.016 B 0.015 B 0.766 N 0.997 N 0.805 L 2.46 T -0.957 T 0.018 T 0.158 -0.625 1.227 1.65 0.042 -0.303 2.002 -0.625269 NA 0.56 0.009777 0.001362 NA NA NA 7.3077564 929 1 59002221 59002221 T C exonic OMA1 NA synonymous SNV OMA1:NM_145243:exon3:c.A693G:p.E231E exonic ENSG00000162600 NA synonymous SNV ENSG00000162600:ENST00000358603:exon3:c.A693G:p.E231E,ENSG00000162600:ENST00000371226:exon3:c.A693G:p.E231E,ENSG00000162600:ENST00000419242:exon3:c.A693G:p.E231E,ENSG00000162600:ENST00000426139:exon3:c.A693G:p.E231E,ENSG00000162600:ENST00000456980:exon3:c.A693G:p.E231E Score=393;Name=lod=53 NA 1p32.1 NA NA NA NA rs7537470 0.14 0.14 0.158 0.146965 0.1193 0.1399 0.1023 0.2307 0.1012 0.11 0.14 0.12 0.21 0.1183 0.21 . . . . . . . . 0.000 P . . . . -1.060 T 0.000 T . 0.923 8.76 0.76 0.007 -0.072 11.845 0.923311 NA NA 0.121512 0.182334 NA 0.145 NA 7.3075546 929 2 48808152 48808152 G C exonic STON1,STON1-GTF2A1L NA nonsynonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.G380C:p.R127T,STON1-GTF2A1L:NM_001198593:exon2:c.G380C:p.R127T,STON1:NM_006873:exon2:c.G380C:p.R127T,STON1-GTF2A1L:NM_172311:exon2:c.G380C:p.R127T,STON1:NM_001198595:exon3:c.G380C:p.R127T exonic ENSG00000068781,ENSG00000243244 NA nonsynonymous SNV ENSG00000068781:ENST00000309827:exon1:c.G380C:p.R127T,ENSG00000243244:ENST00000309835:exon1:c.G380C:p.R127T,ENSG00000068781:ENST00000394751:exon1:c.G380C:p.R127T,ENSG00000068781:ENST00000394754:exon2:c.G380C:p.R127T,ENSG00000068781:ENST00000402114:exon2:c.G380C:p.R127T,ENSG00000243244:ENST00000404752:exon2:c.G380C:p.R127T,ENSG00000068781:ENST00000405008:exon2:c.G380C:p.R127T,ENSG00000243244:ENST00000406226:exon3:c.G380C:p.R127T NA NA 2p16.3 NA NA NA NA rs940389 0.35 0.35 0.37 0.355631 0.341 0.3919 0.3271 0.3079 0.4182 0.36 0.42 0.29 0.31 0.3537 0.42 0.24 T 0.183 B 0.085 B 0.185 N 1.000 P 0.345 N 3.09 T -0.912 T 0.000 T 0.031 -0.446 1.93 2.83 0.517 0.909 7.652 -0.446092 NA 0.05 0.331628 0.317749 NA 0.304 NA 7.3070054 929 8 37730368 37730368 G A exonic RAB11FIP1 NA nonsynonymous SNV RAB11FIP1:NM_001002814:exon4:c.C1952T:p.A651V exonic ENSG00000156675 NA nonsynonymous SNV ENSG00000156675:ENST00000330843:exon4:c.C1952T:p.A651V NA NA 8p11.23 NA NA NA NA rs12541651 0.63 0.63 0.593 0.60024 0.6889 0.7034 0.6427 0.4244 0.6104 0.69 0.73 0.65 0.42 0.659 0.73 0.26 T . . . . 0.045 N 0.503 P . . 2.46 T -1.075 T 0.000 T 0.063 3.458 17.72 4.84 2.235 -0.016 9.137 3.458252 3.458252 0.01 0.678953 0.476623 NA 0.594 NA 7.3064804 929 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 929 3 133475722 133475722 C T exonic TF NA synonymous SNV TF:NM_001063:exon7:c.C739T:p.L247L exonic ENSG00000091513 NA synonymous SNV ENSG00000091513:ENST00000264998:exon6:c.C358T:p.L120L,ENSG00000091513:ENST00000482271:exon6:c.C358T:p.L120L,ENSG00000091513:ENST00000402696:exon7:c.C739T:p.L247L NA Name=Iron status biomarkers 3q22.1 Score=858;Name=V$MRF2_01 NA NA NA rs1799852 0.14 0.14 0.119 0.142572 0.1362 0.2232 0.1398 0.0499 0.1933 0.14 0.22 0.14 0.05 0.1289 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647449 NA NA 0.096047 0.063777 NA 0.065 NA 7.3055196 930 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 930 11 114441943 114441943 G A exonic NXPE4 NA nonsynonymous SNV NXPE4:NM_001077639:exon6:c.C1352T:p.A451V,NXPE4:NM_017678:exon6:c.C500T:p.A167V exonic ENSG00000137634 NA nonsynonymous SNV ENSG00000137634:ENST00000375478:exon6:c.C1352T:p.A451V,ENSG00000137634:ENST00000424261:exon6:c.C500T:p.A167V Score=366;Name=lod=41 NA 11q23.2 NA NA NA NA rs10891705 0.39 0.39 0.355 0.360024 0.332 0.6746 0.2968 0.2118 0.3098 0.33 0.67 0.29 0.22 0.3567 0.67 0.56 T 0.175 B 0.246 B 0.230 N 0.977 P 1.41 L 2.06 T -0.996 T 0.000 T 0.024 1.599 11.3 -0.856 -0.347 0.241 6.391 1.599017 1.599017 0.12 0.340356 0.236059 NA 0.406 NA 7.3042774 930 6 29142317 29142317 C T exonic OR2J2 NA nonsynonymous SNV OR2J2:NM_030905:exon1:c.C905T:p.A302V exonic ENSG00000204700 NA nonsynonymous SNV ENSG00000204700:ENST00000377167:exon1:c.C905T:p.A302V NA NA 6p22.1 NA NA NA NA rs41270628 0.01 0.01 0.005 0.0081869 0.0099 0.004 0.0101 0.0144 0.001 0.01 0.0035 0.01 0.01 0.0078 0.02 0.15 T 0.0 B 0.0 B . . 1.000 N . . 1.36 T -0.984 T 0.022 T 0.053 0.101 4.541 0.101 -0.056 0.362 5.388 0.1005 NA 0.24 0.011424 0.020181 NA 0.007 NA 7.3042094 930 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 930 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 930 2 234394487 234394487 G A exonic USP40 NA nonsynonymous SNV USP40:NM_018218:exon28:c.C3367T:p.R1123C exonic ENSG00000085982 NA nonsynonymous SNV ENSG00000085982:ENST00000427112:exon28:c.C3331T:p.R1111C,ENSG00000085982:ENST00000450966:exon28:c.C3367T:p.R1123C,ENSG00000085982:ENST00000251722:exon29:c.C3331T:p.R1111C NA NA 2q37.1 NA NA NA NA rs1048603 0.37 0.37 0.401 0.40016 0.3618 0.1944 0.2709 0.7489 0.272 0.35 0.17 0.27 0.71 0.354 0.71 0.12 T 0.0 B 0.001 B 0.836 N 1.000 P -0.895 N 3.59 T -1.021 T 0.000 T 0.181 0.677 7.624 -2.41 -0.485 0.262 12.567 0.67748 NA 0.14 0.315004 0.651261 NA 0.486 NA 7.3025294 930 14 22038659 22038659 T C exonic OR10G3 NA nonsynonymous SNV OR10G3:NM_001005465:exon1:c.A217G:p.S73G exonic ENSG00000169208 NA nonsynonymous SNV ENSG00000169208:ENST00000303532:exon1:c.A217G:p.S73G Score=329;Name=lod=29 NA 14q11.2 NA NA NA NA rs17792778 0.7 0.7 0.703 0.711262 0.669 0.7331 0.7997 0.7042 0.6789 0.67 0.73 0.78 0.67 0.6942 0.78 0.15 T 0.0 B 0.0 B 0.003 N 1.000 P -0.375 N 7.56 T -1.026 T 0.000 T 0.045 -0.512 1.658 2.63 0.084 -0.085 6.886 -0.512111 NA 0.82 0.668256 0.697004 ID=COSM1369062;OCCURENCE=1(large_intestine) 0.79 NA 7.3018774 930 16 84209816 84209816 T C exonic DNAAF1 NA nonsynonymous SNV DNAAF1:NM_178452:exon11:c.T1976C:p.L659P exonic ENSG00000154099 NA nonsynonymous SNV ENSG00000154099:ENST00000569735:exon1:c.T278C:p.L93P,ENSG00000154099:ENST00000378553:exon11:c.T1976C:p.L659P NA NA 16q24.1 NA NA NA NA rs2288022 0.3 0.3 0.29 0.267372 0.3439 0.375 0.4049 0.0613 0.2587 0.34 0.41 0.34 0.07 0.3368 0.41 1 T 0.0 B 0.001 B 0.627 N 1.000 P -1.355 N 2.15 T -0.924 T 0.000 T 0.345 -1.499 0.017 2.33 0.156 0.001 6.305 -1.499376 NA 1 0.350814 0.109091 NA 0.217 NA 7.3018194 930 15 90771750 90771750 T G exonic SEMA4B NA nonsynonymous SNV SEMA4B:NM_198925:exon14:c.T2389G:p.S797A,SEMA4B:NM_020210:exon15:c.T2389G:p.S797A exonic ENSG00000185033 NA nonsynonymous SNV ENSG00000185033:ENST00000411539:exon14:c.T2389G:p.S797A,ENSG00000185033:ENST00000332496:exon15:c.T2389G:p.S797A Score=333;Name=lod=30 NA 15q26.1 NA NA NA NA rs3751655 0.76 0.76 0.735 0.792931 0.6968 0.8026 0.7781 0.9017 0.7454 0.68 0.75 0.73 0.89 0.6935 0.89 0.5 T 0.002 B 0.002 B 0.302 N 0.000 P 0.695 N 2.01 T -1.044 T 0.000 T 0.012 0.369 6.001 2.86 0.324 0.929 4.051 0.368664 NA 0.63 0.641693 0.867245 NA 0.674 NA 7.3013404 930 16 19883364 19883364 G A exonic GPRC5B NA synonymous SNV GPRC5B:NM_016235:exon2:c.C804T:p.N268N exonic ENSG00000167191 NA synonymous SNV ENSG00000167191:ENST00000535671:exon1:c.C804T:p.N268N,ENSG00000167191:ENST00000300571:exon2:c.C804T:p.N268N,ENSG00000167191:ENST00000537135:exon2:c.C882T:p.N294N,ENSG00000167191:ENST00000569479:exon2:c.C804T:p.N268N,ENSG00000167191:ENST00000569847:exon2:c.C804T:p.N268N Score=596;Name=lod=352 NA 16p12.3 Score=770;Name=V$PAX5_02 NA NA NA rs61742688 0.08 0.08 0.092 0.0660942 0.1252 NA 0.0663 0.0908 0.0399 0.12 NA 0.06 0.13 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 0.716689 NA NA 0.142791 0.08102 NA 0.254 NA 7.3003756 930 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$HSF1_01 NA NA NA rs11072170 0.28 0.28 0.262 0.260583 0.3569 0.1478 0.4337 0.1929 0.2464 0.37 0.17 0.43 0.17 0.328 0.43 0.32 T 0.009 B 0.005 B . . . . . . 1.35 T -0.907 T 0.000 T 0.058 -2.722 0 0.42 0.141 -0.333 6.681 -2.721836 NA 0.19 0.348622 0.189104 ID=COSM147871;OCCURENCE=1(stomach) 0.297 NA 7.2998114 930 11 45203848 45203848 G A exonic PRDM11 NA synonymous SNV PRDM11:NM_001256695:exon3:c.G171A:p.K57K,PRDM11:NM_001256696:exon3:c.G171A:p.K57K exonic ENSG00000019485 NA synonymous SNV ENSG00000019485:ENST00000424263:exon3:c.G171A:p.K57K,ENSG00000019485:ENST00000526442:exon3:c.G171A:p.K57K,ENSG00000019485:ENST00000530656:exon3:c.G273A:p.K91K,ENSG00000019485:ENST00000263765:exon4:c.G273A:p.K91K Score=594;Name=lod=347 NA 11p11.2 Score=775;Name=V$ER_Q6 NA NA NA rs1078931 0.12 0.12 0.114 0.125399 0.1292 NA 0.121 0.2625 0.0685 0.13 NA 0.13 0.24 0.1133 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.255607 1.255607 NA 0.124564 0.213345 NA 0.123 NA 7.2996026 930 3 112647783 112647783 T C exonic CD200R1 NA nonsynonymous SNV CD200R1:NM_170780:exon4:c.A580G:p.S194G,CD200R1:NM_138806:exon5:c.A649G:p.S217G exonic ENSG00000163606 NA nonsynonymous SNV ENSG00000163606:ENST00000295863:exon3:c.A514G:p.S172G,ENSG00000163606:ENST00000471858:exon4:c.A580G:p.S194G,ENSG00000163606:ENST00000308611:exon5:c.A649G:p.S217G NA NA 3q13.2 NA NA NA NA rs34985808 0.0027 0.0027 NA 0.00319489 0.006 NA 0.0072 NA 0.0051 0.004 NA 0.01 NA 0.0111 0.017 0.74 T 0.0 B 0.0 B 0.520 N 1.000 N -1.15 N -1.01 T -0.986 T 0.068 T 0.018 -0.575 1.414 0.174 0.027 -0.601 4.425 -0.574713 NA 0.94 0.017442 0.004539 ID=COSM1417812;OCCURENCE=1(large_intestine) NA NA 7.2987914 930 12 53088484 53088484 C T exonic KRT77 NA nonsynonymous SNV KRT77:NM_175078:exon5:c.G1006A:p.D336N exonic ENSG00000189182 NA nonsynonymous SNV ENSG00000189182:ENST00000341809:exon5:c.G1006A:p.D336N,ENSG00000189182:ENST00000537195:exon6:c.G307A:p.D103N NA NA 12q13.13 NA NA NA NA rs10783528 0.37 0.37 0.356 0.318291 0.3559 0.5813 0.281 0.1377 0.2791 0.37 0.6 0.31 0.13 0.3395 0.6 0.02 D 0.382 B 0.039 B . . 1.000 P 0.455 N -1.07 T -0.918 T 0.000 T 0.008 1.275 10.17 0.542 0.188 -0.031 8.249 1.275491 1.275491 0.04 0.339302 0.198593 NA 0.362 NA 7.2986314 930 17 37010014 37010014 A T UTR5 RPL23 NM_000978:c.-51T>A NA NA UTR5 ENSG00000125691 ENST00000479035:c.-51T>A NA NA Score=383;Name=lod=48 NA 17q12 NA Name=Pol2-4H8,GABP,MEF2A,Znf143_(16618-1-AP),NFKB,RFX5_(N-494),c-Jun,TAF1,BCLAF1_(M33-P5B11),GATA-1,ATF3,ETS1,HEY1,KAP1,ELF1_(SC-631),USF1_(SC-8983),Pol2(phosphoS2),USF-1,Pol2,USF2,FOSL2,FOXA1_(C-20),E2F6_(H-50),GTF2B,POU2F2,TAF7_(SQ-8),TCF12,p300,HNF4A_(H-171),PU.1,BRCA1_(C-1863),YY1,CEBPB,TBP,TR4,ELK4,Pol2(b),BHLHE40,JunD,GTF2F1_(RAP-74),ZNF263,SRF,p300_(N-15),SP1,c-Myc,NF-E2_(H-230),Oct-2,YY1_(C-20),Max,GCN5,NRSF,Mxi1_(bHLH),BAF170,SIX5,Sin3Ak-20 Name=147 NA rs144071223 0.01 0.01 0.003 0.00738818 0.0159 NA 0.0187 NA 0.0082 0.01 NA 0.02 NA 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 2.661892 2.661892 NA 0.011163 0.002045 NA NA NA 7.2978704 930 2 87303060 87303060 C G ncRNA_exonic LOC285074 NA NA NA ncRNA_exonic ENSG00000231259 NA NA NA Score=608;Name=lod=394 NA 2p11.2 Score=829;Name=V$MAX_01 NA Name=57 NA rs62144417 0.31 0.31 0.303 0.29373 0.3688 0.4613 0.2205 0.0756 0.3906 0.36 0.47 0.26 0.09 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.714541 2.714541 NA NA NA NA 0.007 NA 7.2978666 930 5 154346325 154346325 G A exonic MRPL22 NA synonymous SNV MRPL22:NM_001014990:exon6:c.G249A:p.K83K,MRPL22:NM_014180:exon7:c.G489A:p.K163K exonic ENSG00000082515 NA synonymous SNV ENSG00000082515:ENST00000265229:exon6:c.G249A:p.K83K,ENSG00000082515:ENST00000439747:exon6:c.G567A:p.K189K,ENSG00000082515:ENST00000522038:exon7:c.G507A:p.K169K,ENSG00000082515:ENST00000523037:exon7:c.G489A:p.K163K Score=592;Name=lod=339 NA 5q33.2 NA Name=c-Fos,c-Jun,GATA-2 NA NA rs7965 0.08 0.08 0.06 0.0609026 0.1392 0.002 0.0648 0.0484 0.0552 0.14 NA 0.08 0.06 0.0985 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540432 NA NA 0.131163 0.060599 NA 0.152 NA 7.2978036 930 22 39445554 39445554 G A exonic APOBEC3F NA nonsynonymous SNV APOBEC3F:NM_145298:exon5:c.G691A:p.V231I exonic ENSG00000128394 NA nonsynonymous SNV ENSG00000128394:ENST00000308521:exon5:c.G691A:p.V231I NA NA 22q13.1 NA NA NA NA rs2076101 0.5 0.5 0.465 0.495407 0.4901 0.7113 0.6182 0.1868 0.6084 0.47 0.71 0.65 0.2 0.516 0.71 0.18 T 0.979 D 0.81 P . . 1.000 P 1.765 L -0.19 T -0.936 T 0.000 T 0.024 1.631 11.41 0.462 0.212 0.354 3.917 1.630907 1.630907 0.28 0.529651 0.248071 NA 0.428 NA 7.2975824 930 14 91760522 91760522 C T exonic CCDC88C NA synonymous SNV CCDC88C:NM_001080414:exon23:c.G4107A:p.Q1369Q exonic ENSG00000015133 NA synonymous SNV ENSG00000015133:ENST00000389857:exon23:c.G4107A:p.Q1369Q Score=596;Name=lod=353 NA 14q32.11 Score=895;Name=V$MSX1_01 NA NA NA rs12891713 0.19 0.19 0.199 0.202676 0.1193 0.0843 0.1412 0.4856 0.0716 0.12 0.09 0.12 0.45 0.1393 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.823976 NA NA 0.111477 0.410191 NA 0.196 NA 7.2965896 930 5 114480364 114480364 C T exonic TRIM36 NA synonymous SNV TRIM36:NM_018700:exon4:c.G702A:p.L234L exonic ENSG00000152503 NA synonymous SNV ENSG00000152503:ENST00000514154:exon3:c.G237A:p.L79L,ENSG00000152503:ENST00000282369:exon4:c.G702A:p.L234L,ENSG00000152503:ENST00000513154:exon4:c.G666A:p.L222L Score=528;Name=lod=186 NA 5q22.3 Score=872;Name=V$NCX_01 NA NA NA rs7716270 0.3 0.3 0.317 0.340256 0.0785 0.4345 0.2896 0.5787 0.226 0.08 0.4 0.23 0.57 0.1953 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.709011 NA NA 0.096512 0.517484 NA 0.275 NA 7.2963546 930 3 52558133 52558133 T C exonic STAB1 NA synonymous SNV STAB1:NM_015136:exon68:c.T7560C:p.D2520D exonic ENSG00000010327 NA synonymous SNV ENSG00000010327:ENST00000321725:exon68:c.T7560C:p.D2520D NA NA 3p21.1 NA NA NA NA rs13621 0.45 0.45 0.425 0.390974 0.4652 0.4296 0.5115 0.3343 0.2658 0.47 0.49 0.52 0.33 0.4369 0.52 . . . . . . . . 0.965 P . . . . . . . . . -1.166 0.092 -11.6 -3.572 -4.305 4.345 -1.165587 NA NA 0.468256 0.307762 NA 0.268 NA 7.2963106 930 20 62850358 62850358 C T exonic MYT1 NA synonymous SNV MYT1:NM_004535:exon12:c.C1941T:p.L647L exonic ENSG00000196132 NA synonymous SNV ENSG00000196132:ENST00000360149:exon11:c.C1047T:p.L349L,ENSG00000196132:ENST00000328439:exon12:c.C1941T:p.L647L,ENSG00000196132:ENST00000536311:exon12:c.C2022T:p.L674L Score=516;Name=lod=166 NA 20q13.33 Score=738;Name=V$PPARA_01 NA NA NA rs41279348 0.08 0.08 0.087 0.0794728 0.1282 0.0685 0.0821 0.0234 0.1145 0.13 0.07 0.07 0.03 0.1126 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.369779 1.369779 NA 0.129651 0.044712 NA 0.094 NA 7.2962156 930 13 21720956 21720956 C T exonic SAP18 NA synonymous SNV SAP18:NM_005870:exon3:c.C252T:p.T84T exonic ENSG00000150459 NA synonymous SNV ENSG00000150459:ENST00000450573:exon2:c.C186T:p.T62T,ENSG00000150459:ENST00000467636:exon2:c.C123T:p.T41T,ENSG00000150459:ENST00000382533:exon3:c.C252T:p.T84T,ENSG00000150459:ENST00000607003:exon3:c.C195T:p.T65T Score=582;Name=lod=310 NA 13q12.11 NA NA NA NA rs4620 0.48 0.48 0.453 0.459665 0.4533 0.7153 0.598 0.2239 0.4233 0.46 0.69 0.54 0.24 0.4745 0.69 . . . . . . . . 0.000 P . . . . -0.968 T 0.000 T . 0.901 8.663 -1.62 -0.373 -2.107 0.449 0.900981 NA NA 0.442674 0.257039 NA 0.399 NA 7.2961926 930 11 74994352 74994352 G A exonic ARRB1 NA synonymous SNV ARRB1:NM_004041:exon5:c.C333T:p.H111H,ARRB1:NM_020251:exon5:c.C333T:p.H111H exonic ENSG00000137486 NA synonymous SNV ENSG00000137486:ENST00000360025:exon5:c.C333T:p.H111H,ENSG00000137486:ENST00000393505:exon5:c.C333T:p.H111H,ENSG00000137486:ENST00000420843:exon5:c.C333T:p.H111H,ENSG00000137486:ENST00000532525:exon5:c.C318T:p.H106H Score=576;Name=lod=291 NA 11q13.4 Score=772;Name=V$PPARG_01 NA NA NA rs877711 0.14 0.14 0.137 0.164537 0.1113 0.0982 0.2651 0.1891 0.183 0.11 0.1 0.2 0.18 0.1478 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.078623 NA NA 0.111693 0.176136 NA 0.167 NA 7.2958736 930 11 406473 406473 A C exonic SIGIRR NA synonymous SNV SIGIRR:NM_001135053:exon9:c.T945G:p.P315P,SIGIRR:NM_001135054:exon9:c.T945G:p.P315P,SIGIRR:NM_021805:exon9:c.T945G:p.P315P exonic ENSG00000185187 NA synonymous SNV ENSG00000185187:ENST00000531205:exon8:c.T945G:p.P315P,ENSG00000185187:ENST00000332725:exon9:c.T945G:p.P315P,ENSG00000185187:ENST00000382520:exon9:c.T945G:p.P315P,ENSG00000185187:ENST00000397632:exon9:c.T945G:p.P315P,ENSG00000185187:ENST00000431843:exon9:c.T945G:p.P315P NA NA 11p15.5 NA NA NA NA rs3087588 0.89 0.89 0.845 0.907149 0.7783 0.998 0.8919 0.9115 0.9509 0.78 1 0.88 0.92 0.8314 1 . . . . . . . . 1.000 P . . . . -1.031 T 0.000 T . 0.27 5.462 -6.01 -2.206 -3.243 0.384 0.270359 NA NA 0.761178 0.891542 NA 0.841 NA 7.2957886 930 12 94673277 94673277 G A exonic PLXNC1 NA synonymous SNV PLXNC1:NM_005761:exon22:c.G3627A:p.P1209P exonic ENSG00000136040 NA synonymous SNV ENSG00000136040:ENST00000547057:exon7:c.G768A:p.P256P,ENSG00000136040:ENST00000549217:exon8:c.G750A:p.P250P,ENSG00000136040:ENST00000258526:exon22:c.G3627A:p.P1209P Score=533;Name=lod=195 NA 12q22 Score=856;Name=V$STAT5B_01 NA NA NA rs2230760 0.13 0.13 0.106 0.105831 0.1282 0.1696 0.1441 0.062 0.0491 0.13 0.17 0.15 0.05 0.1223 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.353901 1.353901 NA 0.120465 0.060826 ID=COSM147575;OCCURENCE=1(stomach) 0.058 NA 7.2957016 930 16 84209864 84209864 G C exonic DNAAF1 NA nonsynonymous SNV DNAAF1:NM_178452:exon11:c.G2024C:p.S675T exonic ENSG00000154099 NA nonsynonymous SNV ENSG00000154099:ENST00000569735:exon1:c.G326C:p.S109T,ENSG00000154099:ENST00000378553:exon11:c.G2024C:p.S675T NA NA 16q24.1 NA NA Name=3 NA rs2288023 0.3 0.3 0.275 0.267572 0.3439 0.376 0.4063 0.0613 0.2577 0.34 0.41 0.35 0.07 0.3383 0.41 0.55 T 0.05 B 0.028 B 0.185 N 1.000 P 1.245 L 1.47 T -0.944 T 0.000 T 0.162 1.132 9.612 -1.74 -0.128 -0.037 5.967 1.131548 NA 0.64 0.356047 0.111591 ID=COSM1563462;OCCURENCE=1(large_intestine) 0.217 NA 7.2950864 931 13 75936636 75936636 G A exonic TBC1D4 NA synonymous SNV TBC1D4:NM_014832:exon2:c.C606T:p.F202F exonic ENSG00000136111 NA synonymous SNV ENSG00000136111:ENST00000377625:exon2:c.C606T:p.F202F,ENSG00000136111:ENST00000377636:exon2:c.C606T:p.F202F,ENSG00000136111:ENST00000431480:exon2:c.C606T:p.F202F Score=500;Name=lod=143 NA 13q22.2 NA NA NA NA rs17254379 0.06 0.06 0.055 0.047524 0.1352 NA 0.0836 0.0076 0.0348 0.13 NA 0.09 0.0041 0.0976 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.388128 1.388128 NA 0.140482 0.027342 NA 0.014 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118595.2;CLNDSDB=.;CLNDSDBID=. 7.2933846 931 10 124096061 124096061 A C exonic BTBD16 NA nonsynonymous SNV BTBD16:NM_144587:exon15:c.A1316C:p.H439P exonic ENSG00000138152 NA nonsynonymous SNV ENSG00000138152:ENST00000260723:exon15:c.A1316C:p.H439P,ENSG00000138152:ENST00000368994:exon15:c.A1319C:p.H440P NA NA 10q26.13 NA NA Name=13 NA rs1048347 0.47 0.47 0.423 0.459265 0.325 0.6935 0.487 0.3956 0.4223 0.33 0.7 0.46 0.42 0.3939 0.7 0.95 T 0.0 B 0.0 B 0.006 N 1.000 P -0.975 N 2.37 T -0.986 T 0.000 T 0.062 -1.289 0.04 1.38 -0.223 0.113 4.224 -1.289364 NA 0.45 0.321628 0.359283 NA 0.42 NA 7.2928054 931 3 119256056 119256056 T C exonic CD80 NA nonsynonymous SNV CD80:NM_005191:exon4:c.A628G:p.T210A exonic ENSG00000121594 NA nonsynonymous SNV ENSG00000121594:ENST00000383669:exon3:c.A628G:p.T210A,ENSG00000121594:ENST00000264246:exon4:c.A628G:p.T210A,ENSG00000121594:ENST00000478182:exon4:c.A628G:p.T210A NA NA 3q13.33 NA NA NA NA rs62264488 0.01 0.01 0.006 0.00559105 0.0169 NA 0.0058 0.0008 0.0061 0.02 NA 0.01 NA 0.0101 0.02 0.83 T 0.005 B 0.011 B 0.089 N 1.000 N 0.895 L 2.6 T -1.024 T 0.011 T 0.049 0.751 7.981 1.14 0.031 0.178 0.908 0.751099 NA 0.4 0.013721 0.002951 NA NA NA 7.2926124 931 12 3788188 3788188 C T exonic EFCAB4B NA synonymous SNV EFCAB4B:NM_001144958:exon6:c.G417A:p.K139K,EFCAB4B:NM_032680:exon6:c.G417A:p.K139K exonic ENSG00000130038 NA synonymous SNV ENSG00000130038:ENST00000252322:exon6:c.G417A:p.K139K,ENSG00000130038:ENST00000440314:exon6:c.G417A:p.K139K,ENSG00000130038:ENST00000444507:exon6:c.G417A:p.K139K Score=376;Name=lod=45 NA 12p13.32 Score=782;Name=V$MYOGNF1_01 NA NA NA rs3803135 0.14 0.14 0.118 0.154952 0.1113 0.128 0.2262 0.1324 0.2076 0.11 0.14 0.22 0.14 0.1505 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245964 NA NA 0.112326 0.133908 NA 0.145 NA 7.2925406 931 16 55601388 55601388 A G exonic CAPNS2 NA synonymous SNV CAPNS2:NM_032330:exon1:c.A720G:p.E240E exonic ENSG00000256812 NA synonymous SNV ENSG00000256812:ENST00000457326:exon1:c.A720G:p.E240E NA NA 16q12.2 Score=825;Name=V$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 931 20 60937597 60937597 A G exonic LAMA5 NA synonymous SNV LAMA5:NM_005560:exon2:c.T309C:p.C103C exonic ENSG00000130702 NA synonymous SNV ENSG00000130702:ENST00000252999:exon2:c.T309C:p.C103C,ENSG00000130702:ENST00000370677:exon2:c.T309C:p.C103C,ENSG00000130702:ENST00000370692:exon2:c.T309C:p.C103C Score=519;Name=lod=172 NA 20q13.33 Score=853;Name=V$TAL1BETAITF2_01 Name=CEBPB Name=5 NA rs477859 0.84 0.84 0.841 0.829673 0.7793 0.8938 0.866 0.7905 0.8425 0.79 0.93 0.87 0.81 0.8162 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29315 NA NA 0.779306 0.774693 NA 0.804 NA 7.2918606 931 1 51121198 51121198 T C exonic FAF1 NA synonymous SNV FAF1:NM_007051:exon8:c.A660G:p.V220V exonic ENSG00000185104 NA synonymous SNV ENSG00000185104:ENST00000494400:exon2:c.A78G:p.V26V,ENSG00000185104:ENST00000396153:exon8:c.A660G:p.V220V,ENSG00000185104:ENST00000371778:exon9:c.A660G:p.V220V Score=543;Name=lod=215 NA 1p32.3 Score=745;Name=V$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 931 4 39510264 39510264 A G exonic UGDH NA synonymous SNV UGDH:NM_001184700:exon6:c.T627C:p.C209C,UGDH:NM_001184701:exon6:c.T537C:p.C179C,UGDH:NM_003359:exon7:c.T828C:p.C276C exonic ENSG00000109814 NA synonymous SNV ENSG00000109814:ENST00000501493:exon6:c.T627C:p.C209C,ENSG00000109814:ENST00000507089:exon6:c.T537C:p.C179C,ENSG00000109814:ENST00000316423:exon7:c.T828C:p.C276C,ENSG00000109814:ENST00000506179:exon7:c.T828C:p.C276C Score=653;Name=lod=600 NA 4p14 Score=755;Name=V$HEN1_02 NA NA NA rs1129052 0.27 0.27 0.29 0.296526 0.1044 0.4067 0.1657 0.5212 0.1697 0.11 0.37 0.15 0.51 0.1721 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.16355 NA NA 0.098837 0.460962 NA 0.261 NA 7.2913296 931 16 30037128 30037128 A C exonic FAM57B NA synonymous SNV FAM57B:NM_031478:exon4:c.T459G:p.G153G exonic ENSG00000149926 NA synonymous SNV ENSG00000149926:ENST00000564806:exon3:c.T309G:p.G103G,ENSG00000149926:ENST00000279389:exon4:c.T309G:p.G103G,ENSG00000149926:ENST00000380495:exon4:c.T459G:p.G153G Score=583;Name=lod=313 NA 16p11.2 Score=724;Name=V$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 931 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 931 22 47189678 47189678 C G exonic TBC1D22A NA nonsynonymous SNV TBC1D22A:NM_014346:exon3:c.C400G:p.P134A exonic ENSG00000054611 NA nonsynonymous SNV ENSG00000054611:ENST00000355704:exon2:c.C343G:p.P115A,ENSG00000054611:ENST00000337137:exon3:c.C400G:p.P134A,ENSG00000054611:ENST00000380995:exon3:c.C259G:p.P87A,ENSG00000054611:ENST00000394449:exon3:c.C400G:p.P134A,ENSG00000054611:ENST00000406733:exon3:c.C259G:p.P87A,ENSG00000054611:ENST00000407381:exon3:c.C400G:p.P134A,ENSG00000054611:ENST00000441162:exon4:c.C259G:p.P87A NA NA 22q13.31 NA NA NA NA rs112995262 0.01 0.01 0.007 0.00499201 0.0199 NA 0.0043 0.0008 0.001 0.02 NA 0.01 0.002 0.0162 0.02 0.75 T 0.0 B 0.002 B 0.001 N 1.000 N 1.445 L 2.02 T -1.048 T 0.031 T 0.085 -0.616 1.26 -0.469 0.159 -0.193 3.877 -0.616134 NA 0.5 0.008306 0.001167 ID=COSM1318756;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 7.2889274 931 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 931 19 15198666 15198666 T A exonic OR1I1 NA nonsynonymous SNV OR1I1:NM_001004713:exon1:c.T790A:p.S264T exonic ENSG00000094661 NA nonsynonymous SNV ENSG00000094661:ENST00000209540:exon1:c.T790A:p.S264T NA NA 19p13.12 NA NA NA NA rs144766527 0.01 0.01 0.007 0.00559105 0.0189 NA 0.0101 0.0008 0.001 0.02 NA 0.01 0.002 0.0119 0.02 0.27 T 0.3 B 0.096 B 0.642 U 1.000 N 1.45 L 8.41 T -1.066 T 0.000 T 0.034 0.444 6.41 -0.906 -0.070 -0.466 1.047 0.44381 NA 0.19 0.015349 0.00227 NA 0.007 NA 7.2871844 932 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 932 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 932 7 122635024 122635024 C T exonic TAS2R16 NA nonsynonymous SNV TAS2R16:NM_016945:exon1:c.G665A:p.R222H exonic ENSG00000128519 NA nonsynonymous SNV ENSG00000128519:ENST00000249284:exon1:c.G665A:p.R222H NA NA 7q31.32 NA NA NA NA rs860170 0.72 0.72 0.74 0.729233 0.6859 0.5218 0.7622 0.9531 0.6616 0.7 0.53 0.74 0.94 0.6881 0.94 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.66 N 6.06 T -1.055 T 0.000 T 0.109 -0.911 0.415 2.21 0.058 1.247 3.949 -0.911212 NA 1 0.676977 0.904222 NA 0.761 NA 7.2823564 932 14 67671483 67671483 A C exonic FAM71D NA nonsynonymous SNV FAM71D:NM_173526:exon5:c.A589C:p.T197P exonic ENSG00000172717 NA nonsynonymous SNV ENSG00000172717:ENST00000311864:exon5:c.A589C:p.T197P,ENSG00000172717:ENST00000534174:exon5:c.A589C:p.T197P Score=336;Name=lod=31 NA 14q23.3 NA NA NA NA rs56352800 NA NA NA 0.0135783 0.0348 NA 0.0403 0.0015 0.0031 NA NA NA NA 0.0183 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.319458 2.319458 0 NA NA NA NA NA 7.2802334 932 20 33451148 33451148 G A exonic GGT7 NA synonymous SNV GGT7:NM_178026:exon2:c.C373T:p.L125L exonic ENSG00000131067 NA synonymous SNV ENSG00000131067:ENST00000336431:exon2:c.C373T:p.L125L,ENSG00000131067:ENST00000427420:exon3:c.C424T:p.L142L Score=389;Name=lod=51 NA 20q11.22 Score=819;Name=V$OCT1_01 NA NA NA rs11546155 0.11 0.11 0.104 0.138379 0.1074 0.1071 0.0533 0.1362 0.2658 0.11 0.11 0.06 0.13 0.1393 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065926 NA NA 0.139767 0.144122 ID=COSM443690;OCCURENCE=2(breast) 0.094 NA 7.2801996 932 8 139165289 139165289 T C exonic FAM135B NA nonsynonymous SNV FAM135B:NM_015912:exon13:c.A1429G:p.I477V exonic ENSG00000147724 NA nonsynonymous SNV ENSG00000147724:ENST00000276737:exon13:c.A1429G:p.I477V,ENSG00000147724:ENST00000395297:exon13:c.A1429G:p.I477V NA NA 8q24.23 NA NA NA NA rs7835830 0.72 0.72 0.71 0.718251 0.6869 0.7718 0.7435 0.6785 0.7311 0.69 0.79 0.7 0.72 0.6997 0.79 0.46 T 0.003 B 0.004 B 0.001 N 1.000 P 0.895 L 2.58 T -0.983 T 0.000 T 0.021 -0.468 1.839 -2.29 -0.180 -1.417 4.473 -0.467949 NA 0.94 0.666868 0.701001 NA 0.79 NA 7.2798654 932 4 9998493 9998493 A G exonic SLC2A9 NA synonymous SNV SLC2A9:NM_020041:exon3:c.T322C:p.L108L,SLC2A9:NM_001001290:exon4:c.T235C:p.L79L exonic ENSG00000109667 NA synonymous SNV ENSG00000109667:ENST00000264784:exon3:c.T322C:p.L108L,ENSG00000109667:ENST00000309065:exon4:c.T235C:p.L79L,ENSG00000109667:ENST00000513129:exon4:c.T235C:p.L79L,ENSG00000109667:ENST00000506583:exon5:c.T235C:p.L79L Score=446;Name=lod=87 NA 4p16.1 Score=776;Name=V$ER_Q6 Name=GR,FOXA1_(SC-101058),FOSL2,FOXA1_(C-20) 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 932 7 36763672 36763672 C T exonic AOAH NA nonsynonymous SNV AOAH:NM_001177507:exon1:c.G82A:p.D28N,AOAH:NM_001637:exon1:c.G82A:p.D28N exonic ENSG00000136250 NA nonsynonymous SNV ENSG00000136250:ENST00000258749:exon1:c.G82A:p.D28N,ENSG00000136250:ENST00000414637:exon1:c.G82A:p.D28N,ENSG00000136250:ENST00000431169:exon1:c.G82A:p.D28N,ENSG00000136250:ENST00000435386:exon1:c.G82A:p.D28N,ENSG00000136250:ENST00000535891:exon1:c.G82A:p.D28N NA NA 7p14.2 NA Name=Oct-2,POU2F2,Pol2-4H8 NA NA rs2228410 0.35 0.35 0.342 0.351038 0.3569 0.5248 0.4294 0.1293 0.41 0.37 0.51 0.38 0.13 0.3714 0.51 0.37 T 0.032 B 0.003 B 0.003 N 1.000 P . . 1.63 T -1.000 T 0.000 T 0.02 0.286 5.549 -0.577 -0.447 -0.187 5.050 0.286216 NA 0.27 0.326163 0.151611 NA 0.225 NA 7.2788704 932 2 209190649 209190649 A G exonic PIKFYVE NA synonymous SNV PIKFYVE:NM_015040:exon20:c.A3114G:p.R1038R exonic ENSG00000115020 NA synonymous SNV ENSG00000115020:ENST00000452564:exon19:c.A2946G:p.R982R,ENSG00000115020:ENST00000264380:exon20:c.A3114G:p.R1038R Score=517;Name=lod=169 NA 2q34 NA NA Name=2 NA rs999891 0.09 0.09 0.08 0.0990415 0.1282 0.0089 0.1081 0.1513 0.0849 0.12 0.0035 0.1 0.14 0.1205 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.089732 NA NA 0.140116 0.142079 NA 0.094 NA 7.2778506 932 11 56113516 56113516 T C exonic OR8K1 NA nonsynonymous SNV OR8K1:NM_001002907:exon1:c.T2C:p.M1T exonic ENSG00000150261 NA nonsynonymous SNV ENSG00000150261:ENST00000279783:exon1:c.T2C:p.M1T NA NA 11q12.1 NA NA NA NA rs1905055 0.76 0.76 0.747 0.779952 0.673 0.8631 0.8127 0.7458 0.8272 0.66 0.85 0.81 0.77 0.7243 0.85 0 D 0.009 B 0.006 B . . 0.000 P . . 8.29 T -0.931 T 0.000 T 0.102 0.708 7.772 2.01 0.285 -0.018 5.128 0.70765 NA 0.02 0.658287 0.719446 NA 0.797 NA 7.2777464 932 14 45636328 45636328 A G exonic FANCM NA nonsynonymous SNV FANCM:NM_020937:exon11:c.A1964G:p.N655S exonic ENSG00000187790 NA nonsynonymous SNV ENSG00000187790:ENST00000556250:exon4:c.A512G:p.N171S,ENSG00000187790:ENST00000542564:exon10:c.A1886G:p.N629S,ENSG00000187790:ENST00000267430:exon11:c.A1964G:p.N655S,ENSG00000187790:ENST00000556036:exon11:c.A1964G:p.N655S NA NA 14q21.2 NA NA NA NA rs61753893 0.01 0.01 0.008 0.00658946 0.0268 NA 0.0058 0.0008 0.001 0.03 NA 0.0028 0.002 0.0106 0.03 1 T 0.004 B 0.002 B 0.996 N 1.000 N 0.715 N 2.92 T -0.973 T 0.007 T 0.016 1.723 11.72 -1.0 -0.027 -0.233 5.765 1.723052 1.723052 0.6 0.018372 0.003404 NA NA NA 7.2775614 932 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 932 18 3729175 3729175 C T exonic DLGAP1 NA synonymous SNV DLGAP1:NM_001003809:exon4:c.G645A:p.P215P,DLGAP1:NM_001242762:exon4:c.G687A:p.P229P,DLGAP1:NM_001242763:exon4:c.G687A:p.P229P,DLGAP1:NM_001242764:exon4:c.G669A:p.P223P,DLGAP1:NM_001242765:exon4:c.G645A:p.P215P,DLGAP1:NM_001242766:exon4:c.G645A:p.P215P,DLGAP1:NM_001242761:exon7:c.G1551A:p.P517P,DLGAP1:NM_004746:exon7:c.G1551A:p.P517P exonic ENSG00000170579 NA synonymous SNV ENSG00000170579:ENST00000400145:exon4:c.G645A:p.P215P,ENSG00000170579:ENST00000400147:exon4:c.G645A:p.P215P,ENSG00000170579:ENST00000400149:exon4:c.G675A:p.P225P,ENSG00000170579:ENST00000400150:exon4:c.G669A:p.P223P,ENSG00000170579:ENST00000400155:exon4:c.G669A:p.P223P,ENSG00000170579:ENST00000534970:exon4:c.G687A:p.P229P,ENSG00000170579:ENST00000539435:exon4:c.G645A:p.P215P,ENSG00000170579:ENST00000581699:exon4:c.G669A:p.P223P,ENSG00000170579:ENST00000584874:exon4:c.G1551A:p.P517P,ENSG00000170579:ENST00000515196:exon6:c.G1551A:p.P517P,ENSG00000170579:ENST00000315677:exon7:c.G1551A:p.P517P,ENSG00000170579:ENST00000581527:exon7:c.G1551A:p.P517P Score=601;Name=lod=368 NA 18p11.31 Score=807;Name=V$PAX4_01 NA NA NA rs3745051 0.24 0.24 0.226 0.254593 0.1123 0.3581 0.1744 0.348 0.2249 0.11 0.37 0.16 0.34 0.1679 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406221 NA NA 0.109909 0.298684 NA 0.21 NA 7.2765576 932 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 932 4 128807219 128807219 T A exonic PLK4 NA nonsynonymous SNV PLK4:NM_001190799:exon4:c.T598A:p.S200T,PLK4:NM_001190801:exon5:c.T571A:p.S191T,PLK4:NM_014264:exon5:c.T694A:p.S232T exonic ENSG00000142731 NA nonsynonymous SNV ENSG00000142731:ENST00000513090:exon4:c.T598A:p.S200T,ENSG00000142731:ENST00000270861:exon5:c.T694A:p.S232T,ENSG00000142731:ENST00000507249:exon5:c.T694A:p.S232T,ENSG00000142731:ENST00000514379:exon5:c.T571A:p.S191T,ENSG00000142731:ENST00000515069:exon5:c.T694A:p.S232T NA NA 4q28.2 NA NA NA NA rs3811740 0.71 0.71 0.696 0.742212 0.6849 0.6736 0.7738 0.7988 0.773 0.69 0.64 0.76 0.79 0.7033 0.8 0.65 T 0.0 B 0.001 B 0.752 N 1.000 P 1.355 L 1.81 T -1.004 T 0.000 T 0.026 -0.173 3.159 -6.6 -1.784 -0.351 12.440 -0.172577 NA 1 0.67 0.795506 ID=COSM1426971;OCCURENCE=1(large_intestine) 0.659 NA 7.2751334 933 15 68695349 68695349 G A exonic ITGA11 NA synonymous SNV ITGA11:NM_001004439:exon2:c.C72T:p.N24N exonic ENSG00000137809 NA synonymous SNV ENSG00000137809:ENST00000315757:exon2:c.C72T:p.N24N,ENSG00000137809:ENST00000423218:exon2:c.C72T:p.N24N Score=506;Name=lod=152 NA 15q23 Score=864;Name=V$YY1_01 NA NA NA rs11629460 0.06 0.06 0.055 0.0443291 0.1471 NA 0.0749 0.003 0.0184 0.14 NA 0.09 0.002 0.1034 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.18133 NA NA 0.141379 0.027132 NA 0.094 NA 7.2747876 933 9 34371454 34371454 G C exonic KIAA1161 NA unknown UNKNOWN exonic ENSG00000164976 NA synonymous SNV ENSG00000164976:ENST00000297625:exon2:c.C1386G:p.P462P Score=502;Name=lod=146 NA 9p13.3 Score=752;Name=V$TCF11MAFG_01 NA NA NA rs41311426 0.01 0.01 0.009 0.00878594 0.0219 NA 0.0202 0.0008 0.0072 0.03 NA 0.01 0.002 0.0153 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174561 NA NA 0.022196 0.005464 NA 0.014 NA 7.2739373 933 9 119106881 119106881 C A exonic PAPPA NA nonsynonymous SNV PAPPA:NM_002581:exon14:c.C3671A:p.S1224Y exonic ENSG00000182752 NA nonsynonymous SNV ENSG00000182752:ENST00000534838:exon8:c.C785A:p.S262Y,ENSG00000182752:ENST00000328252:exon14:c.C3671A:p.S1224Y NA NA 9q33.1 NA NA NA NA rs7020782 0.61 0.61 0.606 0.571685 0.6918 0.6984 0.6412 0.2632 0.6851 0.69 0.75 0.65 0.28 0.6687 0.75 0.01 D 0.359 B 0.08 B 0.692 N 1.000 P 1.355 L -1.02 T -0.952 T 0.000 T 0.288 1.927 12.4 2.54 0.348 0.762 3.550 1.926786 1.926786 0.02 0.698953 0.337948 NA 0.565 NA 7.2738804 933 15 92987938 92987938 C G exonic ST8SIA2 NA synonymous SNV ST8SIA2:NM_006011:exon5:c.C621G:p.P207P exonic ENSG00000140557 NA synonymous SNV ENSG00000140557:ENST00000539113:exon4:c.C558G:p.P186P,ENSG00000140557:ENST00000555434:exon4:c.C492G:p.P164P,ENSG00000140557:ENST00000268164:exon5:c.C621G:p.P207P Score=532;Name=lod=194 NA 15q26.1 Score=756;Name=V$PPARG_01 NA NA NA rs2305561 0.2 0.2 0.204 0.223842 0.1054 0.0258 0.1297 0.5968 0.1125 0.11 0.02 0.13 0.61 0.1531 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.2588 1.2588 NA 0.13483 0.516606 NA 0.203 NA 7.2733366 933 15 83495214 83495214 T A exonic WHAMM NA nonsynonymous SNV WHAMM:NM_001080435:exon7:c.T1511A:p.I504K exonic ENSG00000156232 NA nonsynonymous SNV ENSG00000156232:ENST00000286760:exon7:c.T1511A:p.I504K NA NA 15q25.2 NA NA NA NA rs113378787 0.01 0.01 0.005 0.00539137 0.0159 NA 0.0144 NA 0.001 0.02 NA 0.01 NA 0.0185 0.026 0.92 T 0.418 B 0.083 B 0.166 N 1.000 N 1.265 L 3.25 T -1.018 T 0.005 T 0.122 -0.002 4.004 -1.03 -0.118 -0.542 2.313 -0.001901 NA 0.96 0.025954 0.00387 NA 0.036 NA 7.2729794 933 4 68810346 68810346 T C exonic TMPRSS11A NA nonsynonymous SNV TMPRSS11A:NM_001114387:exon3:c.A143G:p.K48R,TMPRSS11A:NM_182606:exon3:c.A143G:p.K48R exonic ENSG00000187054 NA nonsynonymous SNV ENSG00000187054:ENST00000334830:exon3:c.A143G:p.K48R,ENSG00000187054:ENST00000396188:exon3:c.A143G:p.K48R,ENSG00000187054:ENST00000508048:exon3:c.A140G:p.K47R NA NA 4q13.2 NA NA NA NA rs139010197 0.01 0.01 0.004 0.0117812 0.0219 0.003 0.0086 NA 0.0286 0.02 NA 0.01 NA 0.02 0.02 0.63 T 0.02 B 0.03 B 0.254 N 1.000 N 0 N 1.13 T -1.025 T 0.020 T 0.028 -1.291 0.039 -1.35 -0.338 0.352 4.270 -1.290967 NA 0.61 0.018721 0.002951 NA 0.007 NA 7.2727124 933 15 76630303 76630303 T C exonic ISL2 NA synonymous SNV ISL2:NM_145805:exon2:c.T243C:p.Y81Y exonic ENSG00000159556 NA synonymous SNV ENSG00000159556:ENST00000290759:exon2:c.T243C:p.Y81Y,ENSG00000159556:ENST00000558656:exon2:c.T243C:p.Y81Y Score=732;Name=lod=1263 NA 15q24.3 Score=907;Name=V$AREB6_02 Name=Max,E2F6,E2F6_(H-50),TAF1 Name=69 NA rs4636879 0.7 0.7 0.648 0.689097 0.7982 0.8879 0.879 0.2118 0.8824 0.78 0.89 0.87 0.21 0.7886 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 0.9633 NA NA 0.807522 0.305872 NA 0.623 NA 7.2723446 933 19 10226256 10226256 A G exonic EIF3G NA synonymous SNV EIF3G:NM_003755:exon10:c.T846C:p.F282F exonic ENSG00000130811 NA synonymous SNV ENSG00000130811:ENST00000593054:exon4:c.T240C:p.F80F,ENSG00000130811:ENST00000253108:exon10:c.T846C:p.F282F,ENSG00000130811:ENST00000589454:exon10:c.T822C:p.F274F Score=551;Name=lod=231 NA 19p13.2 NA Name=Pol2(b),Pol2,Pol2(phosphoS2),Pol2-4H8 Name=10 NA rs7710 0.45 0.45 0.398 0.453874 0.494 0.371 0.5303 0.407 0.5072 0.48 0.37 0.53 0.42 0.4457 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154102 NA NA 0.454873 0.403768 NA 0.471 NA 7.2720936 933 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 933 1 111862952 111862952 T G exonic CHIA NA nonsynonymous SNV CHIA:NM_001258002:exon8:c.T812G:p.V271G,CHIA:NM_021797:exon9:c.T971G:p.V324G,CHIA:NM_001040623:exon10:c.T812G:p.V271G,CHIA:NM_001258003:exon10:c.T971G:p.V324G,CHIA:NM_001258001:exon11:c.T971G:p.V324G,CHIA:NM_001258005:exon11:c.T812G:p.V271G,CHIA:NM_001258004:exon12:c.T812G:p.V271G,CHIA:NM_201653:exon12:c.T1295G:p.V432G exonic ENSG00000134216 NA nonsynonymous SNV ENSG00000134216:ENST00000483391:exon8:c.T812G:p.V271G,ENSG00000134216:ENST00000422815:exon9:c.T1127G:p.V376G,ENSG00000134216:ENST00000489524:exon9:c.T812G:p.V271G,ENSG00000134216:ENST00000353665:exon10:c.T812G:p.V271G,ENSG00000134216:ENST00000430615:exon10:c.T971G:p.V324G,ENSG00000134216:ENST00000343320:exon11:c.T1295G:p.V432G,ENSG00000134216:ENST00000451398:exon11:c.T812G:p.V271G,ENSG00000134216:ENST00000369740:exon12:c.T1295G:p.V432G Score=410;Name=lod=62 NA 1p13.2 NA NA NA NA rs2256721 0.62 0.62 0.642 0.657348 0.7097 0.4812 0.4236 0.7897 0.772 0.72 0.43 0.5 0.77 0.6552 0.77 1 T 0.0 B 0.0 B 0.000 N 0.520 P -2.955 N 4.01 T -0.960 T 0.002 T 0.52 -0.518 1.635 1.49 -0.008 2.041 4.952 -0.517958 NA 1 0.696628 0.76759 NA 0.71 NA 7.2718054 933 22 21348914 21348914 C T exonic LZTR1 NA synonymous SNV LZTR1:NM_006767:exon15:c.C1683T:p.R561R exonic ENSG00000099949 NA synonymous SNV ENSG00000099949:ENST00000389355:exon14:c.C1626T:p.R542R,ENSG00000099949:ENST00000215739:exon15:c.C1683T:p.R561R Score=617;Name=lod=429 NA 22q11.21 Score=770;Name=V$HEN1_02 NA NA NA rs4822790 0.16 0.16 0.141 0.16893 0.1352 0.2262 0.1124 0.1997 0.1431 0.15 0.22 0.1 0.15 0.1408 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.37252 1.37252 NA 0.118953 0.179609 NA 0.123 NA 7.2717136 933 1 36887813 36887813 C A exonic OSCP1 NA nonsynonymous SNV OSCP1:NM_145047:exon7:c.G757T:p.V253L exonic ENSG00000116885 NA nonsynonymous SNV ENSG00000116885:ENST00000235532:exon7:c.G757T:p.V253L,ENSG00000116885:ENST00000433045:exon7:c.G622T:p.V208L,ENSG00000116885:ENST00000445843:exon7:c.G667T:p.V223L,ENSG00000116885:ENST00000315643:exon8:c.G787T:p.V263L,ENSG00000116885:ENST00000356637:exon8:c.G787T:p.V263L NA NA 1p34.3 NA NA NA NA rs17442970 0.01 0.01 0.007 0.0111821 0.0219 NA 0.0403 0.0015 0.0041 0.02 NA 0.02 0.0041 0.0211 0.02 0.38 T 0.001 B 0.002 B 0.071 N 0.994 N 1.525 L 1.93 T -1.051 T 0.024 T 0.089 1.253 10.08 -0.414 0.023 0.863 3.787 1.253225 1.253225 0.14 0.019186 0.003631 NA NA NA 7.2711474 933 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 933 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 933 3 131068497 131068497 C T exonic NEK11 NA nonsynonymous SNV NEK11:NM_001146003:exon16:c.C1718T:p.A573V exonic ENSG00000114670 NA nonsynonymous SNV ENSG00000114670:ENST00000510688:exon16:c.C1718T:p.A573V NA NA 3q22.1 NA NA NA NA rs12637848 0.03 0.03 0.029 0.0329473 0.0159 0.0962 0.0159 0.0015 0.0399 0.02 0.1 0.02 NA 0.0251 0.1 0.09 T 0.001 B 0.001 B . . 1.000 N . . -0.49 T -1.098 T 0.008 T . 1.102 9.496 -0.536 -0.439 0.479 8.640 1.10198 NA NA 0.021977 0.004766 NA 0.007 NA 7.2703564 933 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 933 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 933 11 102575379 102575379 T C exonic MMP27 NA nonsynonymous SNV MMP27:NM_022122:exon2:c.A230G:p.K77R exonic ENSG00000137675 NA nonsynonymous SNV ENSG00000137675:ENST00000260229:exon2:c.A230G:p.K77R NA NA 11q22.2 NA NA NA NA rs61754772 0.01 0.01 0.007 0.00638978 0.0258 NA 0.0058 0.0008 0.001 0.02 NA 0.01 0.002 0.0156 0.022 0.13 T 0.0 B 0.003 B 0.050 N 1.000 N 1.27 L 1.23 T -1.057 T 0.031 T 0.02 1.764 11.86 0.479 0.157 0.116 6.782 1.763855 1.763855 0.09 0.021982 0.005674 NA 0.014 NA 7.2699514 933 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 933 9 139326304 139326304 G A exonic INPP5E NA synonymous SNV INPP5E:NM_019892:exon7:c.C1521T:p.H507H exonic ENSG00000148384 NA synonymous SNV ENSG00000148384:ENST00000371712:exon7:c.C1521T:p.H507H NA NA 9q34.3 Score=762;Name=V$MYOGNF1_01 NA NA NA rs10870188 0.12 0.12 0.067 0.121406 0.1213 0.1429 0.2435 0.0151 0.1564 0.13 0.14 0.2 0.04 0.1427 0.2 NA NA 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 0.133388 0.038251 ID=COSM1162712;OCCURENCE=1(pancreas) 0.065 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117267.2|RCV000125424.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.2692786 933 19 10625067 10625067 A C exonic S1PR5 NA synonymous SNV S1PR5:NM_001166215:exon2:c.T621G:p.A207A,S1PR5:NM_030760:exon2:c.T621G:p.A207A exonic ENSG00000180739 NA synonymous SNV ENSG00000180739:ENST00000333430:exon2:c.T621G:p.A207A,ENSG00000180739:ENST00000439028:exon2:c.T621G:p.A207A Score=488;Name=lod=128 NA 19p13.2 Score=891;Name=V$TAL1ALPHAE47_01 Name=Nrf1,CTCF_(SC-5916),CTCF Name=26 NA rs6511701 0.78 0.78 0.778 0.814297 0.8022 0.7847 0.8386 0.7602 0.9131 0.79 0.78 0.81 0.72 0.8109 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 -0.486917 NA NA 0.784734 0.766151 ID=COSM438486;OCCURENCE=1(breast) 0.703 NA 7.2688326 933 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 933 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 933 17 48455985 48455985 A T exonic EME1 NA synonymous SNV EME1:NM_001166131:exon4:c.A933T:p.T311T,EME1:NM_152463:exon4:c.A933T:p.T311T exonic ENSG00000154920 NA nonsynonymous SNV ENSG00000154920:ENST00000511519:exon4:c.A457T:p.S153C NA NA 17q21.33 NA NA NA NA rs2189712 0.16 0.16 0.139 0.142772 0.2465 0.0794 0.2911 0.0416 0.1329 0.24 0.08 0.26 0.04 0.2241 0.26 0 D . . . . . . 1.000 P . . 2.15 T -0.953 T 0.000 T . -0.291 2.611 -1.3 0.137 -0.478 0.220 -0.290728 NA NA 0.26093 0.080799 ID=COSM148296;OCCURENCE=1(stomach) 0.239 NA 7.26847 933 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 933 7 32529936 32529936 G C exonic LSM5 NA synonymous SNV LSM5:NM_012322:exon1:c.C42G:p.P14P exonic ENSG00000106355 NA synonymous SNV ENSG00000106355:ENST00000223084:exon1:c.C42G:p.P14P,ENSG00000106355:ENST00000409987:exon1:c.C42G:p.P14P,ENSG00000106355:ENST00000450169:exon1:c.C42G:p.P14P Score=571;Name=lod=278 NA 7p14.3 Score=933;Name=V$HOXA3_01 Name=YY1,c-Fos,NF-YB,CEBPB,PU.1,ELK4,CCNT2,TBP,TR4,BAF155,ZNF263,GR,c-Myc,SP1,Max,YY1_(C-20),NRSF,SETDB1,Sin3Ak-20,SIX5,eGFP-JunD,E2F4,eGFP-JunB,Pol2-4H8,GABP,TAF1,IRF4_(M-17),NFKB,BCLAF1_(M33-P5B11),KAP1,HEY1,NF-YA,ELF1_(SC-631),ETS1,HA-E2F1,Pol2,Pol2(phosphoS2),USF-1,E2F6,TAF7_(SQ-8) Name=148 NA rs1584614 0.78 0.78 0.75 0.750998 0.8052 0.8651 0.804 0.6808 0.635 0.81 0.84 0.8 0.66 0.7859 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 1.437476 1.437476 NA 0.807791 0.661371 ID=COSM150264;OCCURENCE=1(stomach) 0.746 NA 7.2677756 933 7 47840310 47840310 C G exonic PKD1L1 NA nonsynonymous SNV PKD1L1:NM_138295:exon54:c.G8130C:p.Q2710H exonic ENSG00000158683 NA nonsynonymous SNV ENSG00000158683:ENST00000289672:exon54:c.G8130C:p.Q2710H NA NA 7p12.3 NA NA NA NA rs146576726 0.01 0.01 0.006 0.0259585 0.0159 NA 0.0605 NA 0.0736 0.02 NA 0.03 NA 0.0291 0.03 0.61 T 0.002 B 0.004 B 0.000 N 1.000 N -0.345 N 2.13 T -1.031 T 0.007 T 0.09 -0.437 1.971 0.508 0.078 -0.345 1.006 -0.436576 NA 0.66 0.02093 0.004312 NA NA NA 7.2674034 933 10 106075081 106075081 G A exonic ITPRIP NA synonymous SNV ITPRIP:NM_001272012:exon2:c.C729T:p.I243I,ITPRIP:NM_001272013:exon2:c.C729T:p.I243I,ITPRIP:NM_033397:exon3:c.C729T:p.I243I exonic ENSG00000148841 NA synonymous SNV ENSG00000148841:ENST00000337478:exon2:c.C729T:p.I243I,ENSG00000148841:ENST00000358187:exon2:c.C729T:p.I243I,ENSG00000148841:ENST00000278071:exon3:c.C729T:p.I243I Score=511;Name=lod=159 NA 10q25.1 NA Name=CTCF_(SC-5916),CTCF NA NA rs34043167 0.06 0.06 0.057 0.0407348 0.1402 NA 0.0591 0.0038 0.0174 0.15 0.0017 0.07 0.002 0.1094 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.447742 NA NA 0.151163 0.032229 NA 0.101 NA 7.2659036 933 20 9520142 9520142 G A exonic PAK7 NA synonymous SNV PAK7:NM_177990:exon10:c.C2127T:p.I709I,PAK7:NM_020341:exon11:c.C2127T:p.I709I exonic ENSG00000101349 NA synonymous SNV ENSG00000101349:ENST00000353224:exon10:c.C2127T:p.I709I,ENSG00000101349:ENST00000378423:exon11:c.C2127T:p.I709I,ENSG00000101349:ENST00000378429:exon11:c.C2127T:p.I709I Score=573;Name=lod=285 NA 20p12.2 Score=807;Name=V$YY1_02 NA NA NA rs12329540 0.06 0.06 0.055 0.0429313 0.1322 NA 0.0735 0.0015 0.0297 0.14 NA 0.09 0.0041 0.1087 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.459623 1.459623 NA 0.159884 0.034044 NA 0.087 NA 7.2658826 933 13 114782779 114782779 G A exonic RASA3 NA synonymous SNV RASA3:NM_007368:exon12:c.C1140T:p.I380I exonic ENSG00000185989 NA synonymous SNV ENSG00000185989:ENST00000334062:exon12:c.C1140T:p.I380I,ENSG00000185989:ENST00000389544:exon12:c.C1044T:p.I348I NA NA 13q34 NA Name=CTCF NA Score=92;Name=681280_0_-_92 rs61749934 0.07 0.07 0.068 0.0646965 0.1551 0.001 0.0663 0.0197 0.0971 0.15 0.0017 0.07 0.02 0.1068 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.512187 1.512187 NA 0.139651 0.025874 NA 0.036 NA 7.2651156 934 10 94594565 94594565 G A exonic EXOC6 NA nonsynonymous SNV EXOC6:NM_001013848:exon1:c.G70A:p.V24I exonic ENSG00000138190 NA nonsynonymous SNV ENSG00000138190:ENST00000371552:exon1:c.G70A:p.V24I,ENSG00000138190:ENST00000371547:exon2:c.G133A:p.V45I Score=516;Name=lod=166 NA 10q23.33 NA NA Name=3 NA rs2490741 0.6 0.6 0.601 0.571286 0.6968 0.247 0.7233 0.7186 0.4693 0.69 0.28 0.7 0.73 0.6602 0.73 0.42 T 0.0 B 0.001 B . . 0.000 P 0.11 N 2.05 T -1.036 T 0.000 T 0.031 -1.059 0.184 1.83 -0.059 0.317 5.461 -1.059133 NA 1 0.712442 0.717658 ID=COSM146994;OCCURENCE=1(stomach) 0.696 NA 7.2638914 934 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 934 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 934 1 236758887 236758887 T C exonic HEATR1 NA nonsynonymous SNV HEATR1:NM_018072:exon8:c.A1043G:p.H348R exonic ENSG00000119285 NA nonsynonymous SNV ENSG00000119285:ENST00000366581:exon8:c.A1043G:p.H348R,ENSG00000119285:ENST00000366582:exon8:c.A1043G:p.H348R Score=494;Name=lod=136 NA 1q43 NA NA NA NA rs2794751 0.61 0.61 0.6 0.559505 0.6998 0.7242 0.6009 0.329 0.5276 0.69 0.73 0.6 0.36 0.6549 0.73 0.41 T 0.0 B 0.001 B 0.037 N 0.000 P -0.69 N 1.13 T -0.962 T 0.000 T 0.048 -0.827 0.606 2.97 0.717 0.196 5.594 -0.827217 NA 1 0.715465 0.391058 NA 0.623 NA 7.2631684 934 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 934 22 50873497 50873497 C T exonic PPP6R2 NA synonymous SNV PPP6R2:NM_001242898:exon13:c.C1503T:p.S501S,PPP6R2:NM_001242899:exon13:c.C1506T:p.S502S,PPP6R2:NM_001242900:exon13:c.C1503T:p.S501S,PPP6R2:NM_014678:exon13:c.C1503T:p.S501S exonic ENSG00000100239 NA synonymous SNV ENSG00000100239:ENST00000359139:exon13:c.C1503T:p.S501S,ENSG00000100239:ENST00000395741:exon13:c.C1506T:p.S502S,ENSG00000100239:ENST00000395744:exon13:c.C1503T:p.S501S,ENSG00000100239:ENST00000216061:exon14:c.C1503T:p.S501S Score=445;Name=lod=86 NA 22q13.33 Score=860;Name=V$CREB_02 NA NA NA rs1134848 0.07 0.07 0.07 0.0529153 0.1431 0.001 0.0879 0.0106 0.046 0.14 NA 0.1 0.01 0.1199 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.728875 NA NA 0.142824 0.023864 ID=COSM445174;OCCURENCE=1(breast) 0.043 NA 7.2608426 934 5 157065306 157065306 G A exonic SOX30 NA synonymous SNV SOX30:NM_178424:exon4:c.C1812T:p.F604F exonic ENSG00000039600 NA synonymous SNV ENSG00000039600:ENST00000265007:exon4:c.C1812T:p.F604F,ENSG00000039600:ENST00000519442:exon5:c.C897T:p.F299F Score=569;Name=lod=273 NA 5q33.3 Score=949;Name=V$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 934 14 51054598 51054598 A G exonic ATL1 NA synonymous SNV ATL1:NM_015915:exon2:c.A84G:p.P28P,ATL1:NM_181598:exon2:c.A84G:p.P28P,ATL1:NM_001127713:exon3:c.A84G:p.P28P exonic ENSG00000198513 NA synonymous SNV ENSG00000198513:ENST00000354525:exon2:c.A84G:p.P28P,ENSG00000198513:ENST00000357032:exon2:c.A84G:p.P28P,ENSG00000198513:ENST00000358385:exon2:c.A84G:p.P28P,ENSG00000198513:ENST00000441560:exon3:c.A84G:p.P28P,ENSG00000198513:ENST00000553509:exon3:c.A84G:p.P28P,ENSG00000198513:ENST00000555960:exon3:c.A84G:p.P28P Score=565;Name=lod=264 NA 14q22.1 NA NA NA NA rs35014209 0.18 0.18 0.193 0.164137 0.1282 0.0655 0.1225 0.3623 0.0644 0.13 0.08 0.15 0.42 0.1359 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.379737 1.379737 NA 0.143721 0.314117 NA 0.261 CLINSIG=non-pathogenic|probable-non-pathogenic|non-pathogenic;CLNDBN=Spastic_paraplegia_3|not_specified|not_provided;CLNREVSTAT=single|single|single;CLNACC=RCV000020724.1|RCV000116421.2|RCV000123708.1;CLNDSDB=GeneReviews:MedGen:OMIM|.|.;CLNDSDBID=NBK45978:CN074283:182600|.|. 7.2588456 934 12 48375568 48375568 A G exonic COL2A1 NA synonymous SNV COL2A1:NM_033150:exon35:c.T2193C:p.N731N,COL2A1:NM_001844:exon36:c.T2400C:p.N800N exonic ENSG00000139219 NA synonymous SNV ENSG00000139219:ENST00000337299:exon35:c.T2193C:p.N731N,ENSG00000139219:ENST00000380518:exon36:c.T2400C:p.N800N Score=352;Name=lod=36 NA 12q13.11 Score=790;Name=V$HEN1_01 NA NA NA rs1635553 0.48 0.48 0.48 0.482827 0.4632 0.5476 0.3703 0.4879 0.5092 0.46 0.57 0.38 0.47 0.4896 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51446 NA NA 0.455792 0.446892 ID=COSM1606168,COSM1606169;OCCURENCE=1(liver) 0.471 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079724.1;CLNDSDB=.;CLNDSDBID=. 7.2580746 934 3 9957455 9957455 C T exonic IL17RE NA synonymous SNV IL17RE:NM_153480:exon16:c.C1968T:p.L656L,IL17RE:NM_153483:exon17:c.C2088T:p.L696L exonic ENSG00000163701 NA synonymous SNV ENSG00000163701:ENST00000383814:exon16:c.C1968T:p.L656L,ENSG00000163701:ENST00000295980:exon17:c.C1968T:p.L656L,ENSG00000163701:ENST00000421412:exon17:c.C2067T:p.L689L Score=243;Name=lod=13 NA 3p25.3 NA Name=TAF1,Pol2,HA-E2F1,CTCF,PAX5-C20 Name=100 NA rs1056286 0.34 0.34 0.356 0.339657 0.4911 0.0933 0.438 0.382 0.3108 0.49 0.07 0.44 0.38 0.4766 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319529 NA NA 0.441413 0.3498 NA 0.239 NA 7.2575536 934 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 935 16 29821295 29821295 C T intronic MAZ NA NA NA ncRNA_intronic ENSG00000238045,ENSG00000261962 NA NA NA Score=444;Name=lod=85 NA 16p11.2 NA Name=EBF,YY1,Pol2-4H8,EBF1_(C-8),Pol2 Name=27 NA rs72798129 0.04 0.04 0.051 0.0359425 0.0785 0.001 0.0793 0.0023 0.0429 0.08 0.0017 0.06 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 3.030819 3.030819 NA NA NA NA 0.065 NA 7.2548333 935 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 935 16 88780090 88780090 G A exonic CTU2 NA synonymous SNV CTU2:NM_001012759:exon9:c.G909A:p.V303V,CTU2:NM_001012762:exon9:c.G909A:p.V303V exonic ENSG00000174177 NA synonymous SNV ENSG00000174177:ENST00000378384:exon8:c.G648A:p.V216V,ENSG00000174177:ENST00000312060:exon9:c.G909A:p.V303V,ENSG00000174177:ENST00000453996:exon9:c.G909A:p.V303V,ENSG00000174177:ENST00000567949:exon9:c.G1122A:p.V374V Score=572;Name=lod=281 NA 16q24.3 Score=786;Name=V$PAX5_02 NA NA NA rs2290904 0.14 0.14 0.157 0.144369 0.1372 0.0625 0.0865 0.2322 0.1585 0.14 0.06 0.12 0.24 0.1312 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.413585 1.413585 NA 0.143922 0.223973 ID=COSM1479161,COSM435916;OCCURENCE=2(breast) 0.181 NA 7.2543446 935 16 84203939 84203939 C T exonic DNAAF1 NA nonsynonymous SNV DNAAF1:NM_178452:exon8:c.C1505T:p.P502L exonic ENSG00000154099 NA nonsynonymous SNV ENSG00000154099:ENST00000378553:exon8:c.C1505T:p.P502L NA NA 16q24.1 NA NA NA NA rs11644164 0.31 0.31 0.308 0.280551 0.3668 0.3393 0.3732 0.1188 0.2843 0.36 0.37 0.35 0.13 0.3427 0.37 0.21 T 0.005 B 0.003 B 0.131 N 1.000 P -0.69 N 1.85 T -0.943 T 0.000 T 0.057 -0.832 0.594 -0.199 -0.028 -0.991 4.344 -0.831873 NA 0.2 0.370249 0.159672 NA 0.217 NA 7.2535844 935 12 113532617 113532617 A G exonic DTX1 NA synonymous SNV DTX1:NM_004416:exon6:c.A1251G:p.R417R exonic ENSG00000135144 NA synonymous SNV ENSG00000135144:ENST00000257600:exon6:c.A1251G:p.R417R Score=547;Name=lod=222 NA 12q24.13 NA Name=CTCF NA NA rs12427377 0.08 0.08 0.072 0.0646965 0.1521 NA 0.0879 0.0401 0.0583 0.15 NA 0.08 0.04 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 1.149146 NA NA 0.146628 0.061507 ID=COSM430387;OCCURENCE=1(breast) 0.051 NA 7.2535386 935 12 52435691 52435691 G A exonic NR4A1 NA synonymous SNV NR4A1:NM_001202233:exon2:c.G15A:p.K5K exonic ENSG00000123358 NA synonymous SNV ENSG00000123358:ENST00000550082:exon1:c.G15A:p.K5K,ENSG00000123358:ENST00000360284:exon2:c.G15A:p.K5K,ENSG00000123358:ENST00000545748:exon2:c.G138A:p.K46K,ENSG00000123358:ENST00000546842:exon2:c.G15A:p.K5K,ENSG00000123358:ENST00000548977:exon2:c.G15A:p.K5K,ENSG00000123358:ENST00000553200:exon2:c.G15A:p.K5K NA NA 12q13.13 NA Name=CTCF_(C-20),NFKB,GABP,CTCF,NRSF Name=88 NA rs7316491 0.07 0.07 0.055 0.0391374 0.1213 NA 0.0836 0.0045 0.0102 0.12 NA 0.12 0.02 0.1578 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.476528 NA NA 0.134306 0.025714 NA 0.13 NA 7.2532606 935 2 97482001 97482001 G A UTR5 CNNM3 NM_017623:c.-14G>A,NM_199078:c.-14G>A NA NA UTR5 ENSG00000168763 ENST00000377060:c.-14G>A,ENST00000305510:c.-14G>A NA NA Score=503;Name=lod=147 NA 2q11.2 NA Name=TBP,YY1,NF-YB,c-Fos,CTCFL_(SC-98982),YY1_(C-20),c-Myc,SP1,Sin3Ak-20,TAF1,CTCF_(C-20),Znf143_(16618-1-AP),SP2_(SC-643),Pol2-4H8,CTCF_(SC-5916),NF-YA,HEY1,Pol2,Pol2(phosphoS2),CHD2_(N-1250),CTCF,E2F6_(H-50) Name=148 NA rs186606513 0.01 0.01 NA 0.00459265 0.0179 NA 0.0058 NA 0.001 0.02 NA 0.01 0.01 0.0458 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 2.506311 2.506311 NA 0.016424 0.001615 NA NA NA 7.2532094 935 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 935 2 85824039 85824039 G A exonic RNF181 NA synonymous SNV RNF181:NM_016494:exon3:c.G312A:p.L104L exonic ENSG00000168894 NA synonymous SNV ENSG00000168894:ENST00000306368:exon3:c.G312A:p.L104L,ENSG00000168894:ENST00000441634:exon3:c.G312A:p.L104L Score=571;Name=lod=278 NA 2p11.2 Score=737;Name=V$PPARA_01 NA NA NA rs1127974 0.08 0.08 0.074 0.0557109 0.1541 0.001 0.1009 0.0061 0.046 0.16 NA 0.14 NA 0.1077 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.992245 NA NA 0.152791 0.027009 NA 0.13 NA 7.2520756 935 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 935 11 5776484 5776484 A T exonic OR52N4 NA stopgain OR52N4:NM_001005175:exon1:c.A514T:p.R172X exonic ENSG00000181074 NA stopgain ENSG00000181074:ENST00000317254:exon1:c.A514T:p.R172X NA NA 11p15.4 NA NA NA NA rs4910844 0.21 0.21 0.191 0.214457 0.2783 0.1974 0.2262 0.1498 0.2454 0.27 0.19 0.21 0.16 0.2328 0.27 1 T . . . . 0.042 N 0.000 P . . . . . . . . . 2.457 14.18 1.94 0.451 -0.704 6.912 2.45709 2.45709 0 0.237124 0.154128 NA 0.196 NA 7.251776 935 1 248550976 248550976 T G exonic OR2T6 NA nonsynonymous SNV OR2T6:NM_001005471:exon1:c.T67G:p.C23G exonic ENSG00000198104 NA nonsynonymous SNV ENSG00000198104:ENST00000355728:exon1:c.T67G:p.C23G NA NA 1q44 NA NA NA NA rs6587467 0.73 0.73 0.741 0.772764 0.66 0.749 0.7406 0.8684 0.8067 0.67 0.73 0.69 0.86 0.7212 0.86 0.33 T 0.0 B 0.0 B 0.041 N 1.000 P -1.1 N 4.09 T -1.034 T 0.000 T 0.054 0.462 6.506 -2.04 -0.662 -1.583 4.591 0.461581 NA 0.33 0.700698 0.849523 NA 0.783 NA 7.2514354 935 15 48058071 48058071 G A exonic SEMA6D NA nonsynonymous SNV SEMA6D:NM_020858:exon14:c.G1433A:p.S478N,SEMA6D:NM_153616:exon14:c.G1433A:p.S478N,SEMA6D:NM_153617:exon14:c.G1433A:p.S478N,SEMA6D:NM_153618:exon14:c.G1433A:p.S478N,SEMA6D:NM_153619:exon14:c.G1433A:p.S478N,SEMA6D:NM_001198999:exon17:c.G1433A:p.S478N exonic ENSG00000137872 NA nonsynonymous SNV ENSG00000137872:ENST00000316364:exon14:c.G1433A:p.S478N,ENSG00000137872:ENST00000354744:exon14:c.G1433A:p.S478N,ENSG00000137872:ENST00000355997:exon14:c.G1433A:p.S478N,ENSG00000137872:ENST00000358066:exon14:c.G1433A:p.S478N,ENSG00000137872:ENST00000389428:exon14:c.G1433A:p.S478N,ENSG00000137872:ENST00000389432:exon14:c.G1433A:p.S478N,ENSG00000137872:ENST00000389433:exon14:c.G1433A:p.S478N,ENSG00000137872:ENST00000536845:exon14:c.G1433A:p.S478N,ENSG00000137872:ENST00000558816:exon14:c.G1433A:p.S478N,ENSG00000137872:ENST00000537942:exon16:c.G1433A:p.S478N,ENSG00000137872:ENST00000558014:exon17:c.G1433A:p.S478N Score=517;Name=lod=169 NA 15q21.1 NA NA NA NA rs532598 0.47 0.47 0.476 0.465655 0.3509 0.6032 0.3617 0.5817 0.3589 0.35 0.63 0.34 0.55 0.3969 0.63 0.4 T 0.0 B 0.001 B 0.126 N 0.000 P 0.695 N 2.28 T -0.980 T 0.000 T 0.022 0.571 7.087 -1.93 -0.278 0.315 7.211 0.571452 NA 0.29 0.334419 0.587125 NA 0.522 NA 7.2511144 935 8 143623459 143623459 G T exonic BAI1 NA synonymous SNV BAI1:NM_001702:exon27:c.G3864T:p.L1288L exonic ENSG00000181790 NA synonymous SNV ENSG00000181790:ENST00000323289:exon27:c.G3864T:p.L1288L,ENSG00000181790:ENST00000517894:exon28:c.G3864T:p.L1288L Score=483;Name=lod=123 NA 8q24.3 Score=945;Name=V$LMO2COM_01 NA NA NA rs34364916 0.13 0.13 0.124 0.148163 0.1302 0.25 0.0836 0.0416 0.2515 0.13 0.24 0.08 0.04 0.1472 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.039811 NA NA 0.139397 0.055024 NA 0.072 NA 7.2498696 935 2 182395345 182395345 G A exonic ITGA4 NA nonsynonymous SNV ITGA4:NM_000885:exon24:c.G2633A:p.R878Q exonic ENSG00000115232 NA nonsynonymous SNV ENSG00000115232:ENST00000397033:exon24:c.G2633A:p.R878Q NA NA 2q31.3 NA NA NA NA rs1143676 0.74 0.74 0.735 0.790535 0.669 0.8413 0.8026 0.7542 0.9039 0.66 0.84 0.77 0.74 0.7367 0.84 0.48 T 0.063 B 0.041 B 0.486 N 1.000 P 0 N 0.93 T -1.025 T 0.000 T 0.077 1.39 10.58 -10.9 -3.283 -3.957 1.435 1.390478 1.390478 0.45 0.678303 0.752378 NA 0.768 NA 7.2493304 935 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 935 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$PAX5_01 NA NA NA rs3738880 0.56 0.56 0.569 0.508986 0.7247 0.4722 0.5836 0.3578 0.4765 0.72 0.5 0.59 0.37 0.6296 0.73 . . 0.242 B 0.058 B 0.609 N 1.000 P 1.23 L 2.53 T -1.041 T 0.000 T 0.025 -0.412 2.076 0.039 -0.176 -0.368 6.810 -0.411771 NA 0.41 0.730652 0.413453 NA 0.609 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081284.1;CLNDSDB=.;CLNDSDBID=. 7.2483814 935 20 17600357 17600357 G A exonic RRBP1 NA nonsynonymous SNV RRBP1:NM_004587:exon19:c.C2297T:p.S766L,RRBP1:NM_001042576:exon20:c.C2297T:p.S766L exonic ENSG00000125844 NA nonsynonymous SNV ENSG00000125844:ENST00000246043:exon17:c.C3596T:p.S1199L,ENSG00000125844:ENST00000455029:exon18:c.C1619T:p.S540L,ENSG00000125844:ENST00000360807:exon19:c.C2297T:p.S766L,ENSG00000125844:ENST00000377813:exon19:c.C3596T:p.S1199L,ENSG00000125844:ENST00000377807:exon20:c.C2297T:p.S766L NA NA 20p12.1 NA NA NA NA rs11960 0.45 0.45 0.433 0.397963 0.7465 0.255 0.5893 0.0424 0.5317 0.76 0.26 0.62 0.08 0.6135 0.76 0.23 T 0.086 B 0.014 B 0.098 N 1.000 P 1.61 L 2.14 T -1.032 T 0.000 T 0.104 0.365 5.983 2.85 0.389 2.602 8.062 0.365254 NA 0.28 0.725 0.155243 NA 0.464 NA 7.2483334 935 20 7967980 7967980 G C exonic TMX4 NA synonymous SNV TMX4:NM_021156:exon6:c.C570G:p.V190V exonic ENSG00000125827 NA synonymous SNV ENSG00000125827:ENST00000527925:exon5:c.C486G:p.V162V,ENSG00000125827:ENST00000246024:exon6:c.C570G:p.V190V Score=284;Name=lod=19 NA 20p12.3 Score=834;Name=V$FAC1_01 NA NA NA rs17425725 0.08 0.08 0.064 0.0694888 0.1461 0.0437 0.0706 0.0023 0.1074 0.15 0.04 0.08 0.002 0.1202 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.922316 NA NA 0.153372 0.033818 NA 0.058 NA 7.2469946 935 2 103095404 103095404 G A exonic SLC9A4 NA synonymous SNV SLC9A4:NM_001011552:exon2:c.G363A:p.S121S exonic ENSG00000180251 NA synonymous SNV ENSG00000180251:ENST00000295269:exon2:c.G363A:p.S121S NA NA 2q12.1 Score=896;Name=V$NRF2_01 Name=CTCF_(SC-5916),CTCF Name=2 NA rs11692304 0.37 0.37 0.356 0.339058 0.5219 0.2321 0.3314 0.2776 0.3497 0.52 0.23 0.38 0.29 0.4195 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.996642 NA NA 0.479767 0.30345 NA 0.435 NA 7.2454996 935 18 2707619 2707619 G A exonic SMCHD1 NA nonsynonymous SNV SMCHD1:NM_015295:exon16:c.G2122A:p.V708I exonic ENSG00000101596 NA nonsynonymous SNV ENSG00000101596:ENST00000577880:exon5:c.G535A:p.V179I,ENSG00000101596:ENST00000261598:exon16:c.G2122A:p.V708I,ENSG00000101596:ENST00000320876:exon16:c.G2122A:p.V708I NA NA 18p11.32 NA Name=CEBPB,MafK_(ab50322) Name=9 NA rs2276092 0.68 0.68 0.664 0.690296 0.6909 0.6528 0.7839 0.7141 0.6299 0.67 0.61 0.77 0.72 0.6939 0.77 0.47 T 0.0 B 0.001 B 0.429 N 1.000 P 0.695 N 1.95 T -1.032 T 0.000 T 0.092 1.567 11.19 0.384 -0.155 0.281 11.481 1.566563 1.566563 NA 0.703064 0.730495 NA 0.652 NA 7.2454694 936 7 35709842 35709842 C T exonic HERPUD2 NA nonsynonymous SNV HERPUD2:NM_022373:exon4:c.G322A:p.A108T exonic ENSG00000122557 NA nonsynonymous SNV ENSG00000122557:ENST00000413517:exon2:c.G244A:p.A82T,ENSG00000122557:ENST00000396081:exon3:c.G322A:p.A108T,ENSG00000122557:ENST00000311350:exon4:c.G322A:p.A108T NA NA 7p14.2 NA NA NA NA rs3779234 0.28 0.28 0.253 0.267372 0.3678 0.2649 0.3156 0.1203 0.3313 0.37 0.25 0.33 0.13 0.3355 0.39 0.3 T 0.01 B 0.007 B 0.140 N 0.281 P 0 N 2.81 T -0.907 T 0.000 T 0.112 1.937 12.44 2.24 0.681 0.811 8.905 1.93726 1.93726 0.47 0.38593 0.175897 NA 0.348 NA 7.2441034 936 9 95872885 95872885 C T exonic C9orf89 NA synonymous SNV C9orf89:NM_032310:exon3:c.C186T:p.L62L exonic ENSG00000165233 NA synonymous SNV ENSG00000165233:ENST00000375464:exon3:c.C186T:p.L62L,ENSG00000165233:ENST00000466409:exon3:c.C186T:p.L62L Score=446;Name=lod=87 NA 9q22.31 Score=901;Name=V$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 936 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),HEY1,Pol2-4H8,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 936 12 52284500 52284500 A G exonic ANKRD33 NA nonsynonymous SNV ANKRD33:NM_001130015:exon5:c.A395G:p.Q132R,ANKRD33:NM_182608:exon5:c.A770G:p.Q257R exonic ENSG00000167612 NA nonsynonymous SNV ENSG00000167612:ENST00000538991:exon4:c.A188G:p.Q63R,ENSG00000167612:ENST00000301190:exon5:c.A770G:p.Q257R,ENSG00000167612:ENST00000340970:exon5:c.A395G:p.Q132R NA NA 12q13.13 NA NA NA NA rs34494292 0.16 0.16 0.145 0.148962 0.1918 0.2063 0.134 0.0318 0.2147 0.19 0.22 0.14 0.05 0.1952 0.22 0.55 T 0.628 P 0.09 B 0.685 N 1.000 P 1.5 L 2.4 T -0.977 T 0.000 T 0.064 1.588 11.27 -0.552 0.026 0.671 3.266 1.588295 1.588295 0.27 0.203605 0.063096 NA 0.181 NA 7.2427284 936 1 59787350 59787350 T G exonic FGGY NA nonsynonymous SNV FGGY:NM_001113411:exon2:c.T129G:p.N43K,FGGY:NM_001244714:exon2:c.T129G:p.N43K,FGGY:NM_018291:exon2:c.T129G:p.N43K exonic ENSG00000172456 NA nonsynonymous SNV ENSG00000172456:ENST00000303721:exon2:c.T129G:p.N43K,ENSG00000172456:ENST00000371212:exon2:c.T129G:p.N43K,ENSG00000172456:ENST00000371218:exon2:c.T129G:p.N43K,ENSG00000172456:ENST00000413489:exon2:c.T129G:p.N43K,ENSG00000172456:ENST00000430447:exon3:c.T129G:p.N43K,ENSG00000172456:ENST00000582567:exon3:c.T129G:p.N43K NA NA 1p32.1 NA NA NA NA rs835409 0.45 0.45 0.459 0.467252 0.3509 0.4782 0.4078 0.5477 0.5092 0.37 0.49 0.41 0.56 0.4018 0.56 . . 0.0 B 0.0 B 0.024 N 0.000 P -0.345 N 0.37 T -0.931 T 0.000 T 0.117 1.348 10.43 0.051 -0.384 -1.274 1.322 1.348245 1.348245 0.31 0.338453 0.514031 ID=COSM146529;OCCURENCE=1(stomach) 0.478 NA 7.2421804 936 17 60040329 60040329 C T exonic MED13 NA synonymous SNV MED13:NM_005121:exon21:c.G4848A:p.T1616T exonic ENSG00000108510 NA synonymous SNV ENSG00000108510:ENST00000397786:exon21:c.G4848A:p.T1616T Score=724;Name=lod=1170 NA 17q23.2 Score=895;Name=V$CDPCR1_01 NA NA NA rs2278812 0.29 0.29 0.269 0.284944 0.1223 0.5248 0.2046 0.3828 0.1299 0.13 0.5 0.19 0.36 0.1854 0.5 NA NA 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 0.117374 0.332883 ID=COSM1385042;OCCURENCE=1(large_intestine) 0.225 NA 7.2415926 936 19 4558431 4558431 C G exonic SEMA6B NA synonymous SNV SEMA6B:NM_032108:exon2:c.G39C:p.L13L exonic ENSG00000167680 NA synonymous SNV ENSG00000167680:ENST00000301293:exon1:c.G39C:p.L13L,ENSG00000167680:ENST00000586965:exon1:c.G39C:p.L13L,ENSG00000167680:ENST00000586582:exon2:c.G39C:p.L13L Score=472;Name=lod=111 NA 19p13.3 NA Name=YY1_(C-20),AP-2alpha,ZBTB7A_(SC-34508),AP-2gamma,CTCF Name=46 NA rs2304213 0.48 0.48 0.427 0.466454 0.4543 0.5952 0.4841 0.3707 0.4632 0.47 0.59 0.47 0.4 0.5782 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.34917 1.34917 NA 0.392763 0.330285 ID=COSM439781;OCCURENCE=2(breast) 0.152 NA 7.2414036 936 22 46805772 46805772 C T exonic CELSR1 NA nonsynonymous SNV CELSR1:NM_014246:exon8:c.G4939A:p.A1647T exonic ENSG00000075275 NA nonsynonymous SNV ENSG00000075275:ENST00000262738:exon8:c.G4939A:p.A1647T NA NA 22q13.31 NA NA NA NA rs11704506 0.02 0.02 0.016 0.00958466 0.0348 NA 0.013 0.0015 0.002 0.03 NA 0.02 0.0041 0.0241 0.034 0.13 T 0.109 B 0.011 B 0.027 U 1.000 N 0.285 N -1.16 T -1.000 T 0.076 T 0.049 0.977 8.987 0.781 0.415 -0.276 5.663 0.976677 NA 0.08 0.034302 0.008852 NA 0.007 NA 7.2401314 936 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 936 1 74665493 74665493 G A exonic FPGT,FPGT-TNNI3K NA synonymous SNV FPGT-TNNI3K:NM_001112808:exon2:c.G228A:p.V76V,FPGT-TNNI3K:NM_001199327:exon2:c.G228A:p.V76V,FPGT:NM_001199328:exon2:c.G228A:p.V76V,FPGT:NM_001199329:exon2:c.G228A:p.V76V,FPGT:NM_003838:exon2:c.G228A:p.V76V exonic ENSG00000116783,ENSG00000254685,ENSG00000259030 NA synonymous SNV ENSG00000116783:ENST00000370891:exon2:c.G228A:p.V76V,ENSG00000116783:ENST00000370893:exon2:c.G228A:p.V76V,ENSG00000254685:ENST00000370894:exon2:c.G228A:p.V76V,ENSG00000259030:ENST00000370895:exon2:c.G228A:p.V76V,ENSG00000254685:ENST00000370898:exon2:c.G228A:p.V76V,ENSG00000259030:ENST00000370899:exon2:c.G228A:p.V76V,ENSG00000254685:ENST00000467578:exon2:c.G228A:p.V76V,ENSG00000254685:ENST00000472069:exon2:c.G222A:p.V74V,ENSG00000254685:ENST00000482102:exon2:c.G294A:p.V98V,ENSG00000254685:ENST00000524915:exon2:c.G228A:p.V76V,ENSG00000254685:ENST00000529485:exon2:c.G228A:p.V76V,ENSG00000254685:ENST00000534056:exon2:c.G228A:p.V76V,ENSG00000259030:ENST00000534632:exon2:c.G228A:p.V76V,ENSG00000259030:ENST00000557284:exon2:c.G228A:p.V76V Score=561;Name=lod=253 NA 1p31.1 NA Name=Max Name=8 NA rs792310 0.46 0.46 0.444 0.446685 0.4642 0.7391 0.389 0.1619 0.5532 0.48 0.72 0.41 0.15 0.4794 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.688034 NA NA 0.483372 0.228098 NA 0.341 NA 7.2396946 936 17 56381729 56381729 A G UTR3 BZRAP1 NM_004758:c.*2T>C,NM_024418:c.*2T>C,NM_001261835:c.*2T>C NA NA UTR3 ENSG00000005379 ENST00000268893:c.*2T>C,ENST00000343736:c.*2T>C NA NA Score=592;Name=lod=339 NA 17q22 NA Name=TCF4,YY1_(C-20),Rad21,Nrf1,ZNF263,SMC3_(ab9263),CTCF,CTCF_(SC-5916) Name=82 NA rs72839982 0.02 0.02 0.017 0.0165735 0.0378 NA 0.013 0.0015 0.0348 0.04 NA 0.01 NA 0.0253 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 2.519736 2.519736 NA 0.031279 0.006128 NA 0.014 NA 7.2389544 936 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 936 17 80039481 80039481 G A exonic FASN NA synonymous SNV FASN:NM_004104:exon37:c.C6402T:p.I2134I exonic ENSG00000169710 NA synonymous SNV ENSG00000169710:ENST00000306749:exon37:c.C6402T:p.I2134I Score=468;Name=lod=106 NA 17q25.3 NA Name=Pol2,NRSF Name=5 NA rs1140616 0.35 0.35 0.353 0.303914 0.4791 0.2996 0.2867 0.1823 0.3047 0.48 0.34 0.31 0.19 0.4254 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.322836 NA NA 0.523494 0.224898 NA 0.203 NA 7.2386726 936 2 238903399 238903399 G A exonic UBE2F NA synonymous SNV UBE2F:NM_080678:exon4:c.G162A:p.V54V exonic ENSG00000184182,ENSG00000258984 NA synonymous SNV ENSG00000184182:ENST00000434137:exon2:c.G132A:p.V44V,ENSG00000184182:ENST00000409953:exon3:c.G90A:p.V30V,ENSG00000184182:ENST00000445676:exon3:c.G90A:p.V30V,ENSG00000184182:ENST00000272930:exon4:c.G162A:p.V54V,ENSG00000184182:ENST00000409633:exon4:c.G162A:p.V54V,ENSG00000184182:ENST00000433241:exon4:c.G162A:p.V54V,ENSG00000184182:ENST00000433568:exon4:c.G162A:p.V54V,ENSG00000184182:ENST00000434655:exon4:c.G162A:p.V54V,ENSG00000184182:ENST00000439780:exon4:c.G162A:p.V54V,ENSG00000184182:ENST00000441728:exon4:c.G162A:p.V54V,ENSG00000184182:ENST00000448502:exon4:c.G162A:p.V54V,ENSG00000258984:ENST00000449191:exon4:c.G162A:p.V54V,ENSG00000258984:ENST00000449891:exon4:c.G162A:p.V54V,ENSG00000184182:ENST00000455999:exon4:c.G162A:p.V54V Score=477;Name=lod=116 NA 2q37.3 Score=849;Name=V$OCT1_Q6 NA NA NA rs12615308 0.11 0.11 0.111 0.103035 0.1471 0.1429 0.1052 0.0091 0.1421 0.14 0.15 0.12 0.01 0.1402 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.18995 NA NA 0.141395 0.03064 NA 0.087 NA 7.2379716 936 22 50555635 50555635 C T exonic MOV10L1 NA synonymous SNV MOV10L1:NM_001164104:exon9:c.C1309T:p.L437L,MOV10L1:NM_001164105:exon9:c.C1249T:p.L417L,MOV10L1:NM_018995:exon9:c.C1309T:p.L437L exonic ENSG00000073146 NA synonymous SNV ENSG00000073146:ENST00000262794:exon9:c.C1309T:p.L437L,ENSG00000073146:ENST00000395858:exon9:c.C1309T:p.L437L,ENSG00000073146:ENST00000540615:exon9:c.C1249T:p.L417L,ENSG00000073146:ENST00000545383:exon10:c.C1309T:p.L437L Score=333;Name=lod=30 NA 22q13.33 Score=872;Name=V$NFY_01 NA NA NA rs882753 0.14 0.14 0.126 0.138978 0.1352 0.1518 0.2003 0.0893 0.1534 0.14 0.19 0.17 0.08 0.1493 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 0.328642 NA NA 0.144419 0.103949 NA 0.138 NA 7.2377476 936 7 21856151 21856151 G A exonic DNAH11 NA nonsynonymous SNV DNAH11:NM_001277115:exon64:c.G10399A:p.A3467T exonic ENSG00000105877 NA nonsynonymous SNV ENSG00000105877:ENST00000409508:exon64:c.G10399A:p.A3467T,ENSG00000105877:ENST00000328843:exon65:c.G10420A:p.A3474T NA NA 7p15.3 NA NA NA NA rs2214326 0.5 0.5 0.481 0.484225 0.336 0.8085 0.4928 0.382 0.4346 0.34 0.81 0.46 0.42 0.4297 0.81 0.47 T 0.001 B 0.006 B 0.419 N 1.000 P . . 1.95 T -0.934 T 0.000 T 0.04 -1.611 0.013 -11.6 -2.822 -0.051 19.934 -1.611138 NA 1 0.330036 0.384538 NA 0.435 NA 7.2375974 936 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 936 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 936 10 62029934 62029934 G C exonic ANK3 NA synonymous SNV ANK3:NM_001204404:exon5:c.C417G:p.V139V,ANK3:NM_020987:exon5:c.C468G:p.V156V,ANK3:NM_001204403:exon6:c.C450G:p.V150V exonic ENSG00000151150 NA synonymous SNV ENSG00000151150:ENST00000280772:exon5:c.C468G:p.V156V,ENSG00000151150:ENST00000503366:exon5:c.C417G:p.V139V,ENSG00000151150:ENST00000503925:exon5:c.C390G:p.V130V,ENSG00000151150:ENST00000373827:exon6:c.C450G:p.V150V Score=651;Name=lod=587 NA 10q21.2 NA NA NA NA rs71495633 0.08 0.08 0.078 0.0686901 0.1551 0.003 0.0821 0.0129 0.1135 0.16 0.0017 0.12 0.02 0.1214 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.984265 NA NA 0.153372 0.031548 NA 0.036 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116336.2;CLNDSDB=.;CLNDSDBID=. 7.2367946 936 16 1364365 1364365 A G exonic UBE2I NA synonymous SNV UBE2I:NM_003345:exon3:c.A138G:p.P46P,UBE2I:NM_194260:exon3:c.A138G:p.P46P,UBE2I:NM_194261:exon3:c.A138G:p.P46P,UBE2I:NM_194259:exon4:c.A138G:p.P46P exonic ENSG00000103275 NA synonymous SNV ENSG00000103275:ENST00000402301:exon2:c.A138G:p.P46P,ENSG00000103275:ENST00000567074:exon2:c.A138G:p.P46P,ENSG00000103275:ENST00000325437:exon3:c.A138G:p.P46P,ENSG00000103275:ENST00000355803:exon3:c.A138G:p.P46P,ENSG00000103275:ENST00000397514:exon3:c.A138G:p.P46P,ENSG00000103275:ENST00000406620:exon3:c.A138G:p.P46P,ENSG00000103275:ENST00000566587:exon3:c.A138G:p.P46P,ENSG00000103275:ENST00000397515:exon4:c.A138G:p.P46P,ENSG00000103275:ENST00000403747:exon4:c.A138G:p.P46P Score=564;Name=lod=262 NA 16p13.3 Score=761;Name=V$STAT1_01 NA NA NA rs4610 0.12 0.12 0.104 0.138978 0.1382 0.0456 0.2262 0.1634 0.1411 0.15 0.04 0.21 0.12 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 -0.092445 NA NA 0.142791 0.157117 NA 0.116 NA 7.2360756 936 16 2014283 2014283 A G exonic RPS2 NA synonymous SNV RPS2:NM_002952:exon3:c.T261C:p.P87P exonic ENSG00000140988 NA synonymous SNV ENSG00000140988:ENST00000533186:exon1:c.T75C:p.P25P,ENSG00000140988:ENST00000526522:exon2:c.T261C:p.P87P,ENSG00000140988:ENST00000530225:exon2:c.T261C:p.P87P,ENSG00000140988:ENST00000563194:exon2:c.T81C:p.P27P,ENSG00000140988:ENST00000343262:exon3:c.T261C:p.P87P,ENSG00000140988:ENST00000527302:exon3:c.T261C:p.P87P Score=483;Name=lod=122 NA 16p13.3 Score=912;Name=V$NKX25_02 Name=Pol2(b),CTCF,Pol2,CHD2_(N-1250),HA-E2F1,ETS1,HEY1,Pol2-4H8 Name=96 NA rs2286466 0.85 0.85 0.857 0.86262 0.8091 0.8681 0.781 0.9939 0.7924 0.81 0.84 0.78 0.99 0.8196 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.097405 NA NA 0.802209 0.962028 NA 0.804 NA 7.2357576 936 2 237103548 237103548 G A exonic ASB18 NA synonymous SNV ASB18:NM_212556:exon6:c.C1368T:p.Y456Y exonic ENSG00000182177 NA synonymous SNV ENSG00000182177:ENST00000330842:exon5:c.C1281T:p.Y427Y,ENSG00000182177:ENST00000409749:exon6:c.C1368T:p.Y456Y Score=403;Name=lod=58 NA 2q37.2 Score=908;Name=V$PAX4_02 NA NA NA rs10177825 0.16 0.16 0.17 0.185503 0.1481 0.002 0.0951 0.4418 0.1309 0.15 NA 0.11 0.41 0.1567 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.447723 NA NA 0.126284 0.389192 NA 0.217 NA 7.2355826 936 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 937 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,Max,SRF,ERalpha_a,PU.1 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 937 13 46541673 46541673 T A exonic ZC3H13 NA nonsynonymous SNV ZC3H13:NM_015070:exon15:c.A4287T:p.E1429D exonic ENSG00000123200 NA nonsynonymous SNV ENSG00000123200:ENST00000378921:exon2:c.A1155T:p.E385D,ENSG00000123200:ENST00000242848:exon15:c.A4287T:p.E1429D,ENSG00000123200:ENST00000282007:exon15:c.A4287T:p.E1429D NA NA 13q14.13 NA NA NA NA rs9534264 0.79 0.79 0.816 0.78095 0.6779 0.8046 0.768 0.9024 0.7076 0.7 0.84 0.77 0.9 0.7341 0.9 1 T 0.0 B 0.0 B 0.013 N 1.000 P -1.04 N 2.69 T -0.965 T 0.000 T 0.012 -0.286 2.633 3.0 -0.175 0.963 7.901 -0.285845 NA 1 0.68686 0.853836 NA 0.725 NA 7.2344734 937 12 31135579 31135579 T C exonic TSPAN11 NA nonsynonymous SNV TSPAN11:NM_001080509:exon6:c.T569C:p.V190A exonic ENSG00000110900 NA nonsynonymous SNV ENSG00000110900:ENST00000535215:exon5:c.T356C:p.V119A,ENSG00000110900:ENST00000544427:exon5:c.T539C:p.V180A,ENSG00000110900:ENST00000261177:exon6:c.T569C:p.V190A,ENSG00000110900:ENST00000546076:exon6:c.T569C:p.V190A NA NA 12p11.21 Score=796;Name=V$PAX5_02 NA Name=6 NA rs2075333 0.7 0.7 0.68 0.707668 0.6998 0.7242 0.7478 0.6415 0.7597 0.71 0.74 0.73 0.6 0.718 0.74 0.89 T 0.0 B 0.002 B 0.581 N 1.000 P -0.22 N -1.04 T -0.965 T 0.000 T 0.117 -2.518 0.003 -1.76 -0.273 -0.471 3.949 -2.517694 NA 0.78 0.681109 0.632848 ID=COSM431014;OCCURENCE=1(breast) 0.717 NA 7.2344244 937 3 56766435 56766435 C G exonic ARHGEF3 NA synonymous SNV ARHGEF3:NM_001128616:exon9:c.G1077C:p.L359L,ARHGEF3:NM_019555:exon9:c.G1059C:p.L353L,ARHGEF3:NM_001128615:exon12:c.G1155C:p.L385L exonic ENSG00000163947 NA synonymous SNV ENSG00000163947:ENST00000296315:exon9:c.G1059C:p.L353L,ENSG00000163947:ENST00000413728:exon9:c.G1077C:p.L359L,ENSG00000163947:ENST00000495373:exon9:c.G1059C:p.L353L,ENSG00000163947:ENST00000497267:exon9:c.G972C:p.L324L,ENSG00000163947:ENST00000496106:exon10:c.G1077C:p.L359L,ENSG00000163947:ENST00000338458:exon12:c.G1155C:p.L385L Score=569;Name=lod=274 NA 3p14.3 Score=924;Name=V$NFAT_Q6 NA NA NA rs3732511 0.21 0.21 0.212 0.256589 0.1372 0.3442 0.1023 0.239 0.4223 0.13 0.34 0.11 0.27 0.1822 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77646 NA NA 0.115349 0.231502 NA 0.145 NA 7.2319176 937 2 220371035 220371035 C G exonic GMPPA NA synonymous SNV GMPPA:NM_013335:exon12:c.C1053G:p.A351A,GMPPA:NM_205847:exon12:c.C1053G:p.A351A exonic ENSG00000144591 NA synonymous SNV ENSG00000144591:ENST00000373917:exon11:c.C1212G:p.A404A,ENSG00000144591:ENST00000313597:exon12:c.C1053G:p.A351A,ENSG00000144591:ENST00000341142:exon12:c.C1053G:p.A351A,ENSG00000144591:ENST00000358215:exon12:c.C1053G:p.A351A,ENSG00000144591:ENST00000373908:exon12:c.C1053G:p.A351A Score=446;Name=lod=87 NA 2q35 Score=764;Name=V$PAX5_01 NA NA NA rs1046474 0.07 0.07 0.06 0.052516 0.161 0.001 0.0908 0.0129 0.0204 0.14 0.0017 0.12 0.01 0.1081 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.355965 1.355965 NA 0.166279 0.038811 NA 0.051 NA 7.2312876 937 19 57085769 57085769 G C exonic ZNF470 NA nonsynonymous SNV ZNF470:NM_001001668:exon4:c.G67C:p.V23L exonic ENSG00000197016 NA nonsynonymous SNV ENSG00000197016:ENST00000391709:exon3:c.G67C:p.V23L,ENSG00000197016:ENST00000330619:exon4:c.G67C:p.V23L,ENSG00000197016:ENST00000601902:exon4:c.G67C:p.V23L NA NA 19q13.43 NA NA NA NA rs10421285 0.4 0.4 0.4 0.423922 0.3698 0.2788 0.3357 0.6657 0.365 0.36 0.26 0.35 0.64 0.368 0.64 0.41 T 0.0 B 0.001 B . . 1.000 P 1.685 L 3.54 T -0.995 T 0.000 T 0.054 0.673 7.6 -3.06 -0.621 0.740 4.406 0.672565 NA 0.12 0.365 0.613936 ID=COSM148776;OCCURENCE=1(stomach) 0.457 NA 7.2305334 937 11 66392880 66392880 C T exonic RBM14 NA synonymous SNV RBM14:NM_006328:exon2:c.C1533T:p.T511T exonic ENSG00000239306 NA synonymous SNV ENSG00000239306:ENST00000310137:exon2:c.C1533T:p.T511T Score=534;Name=lod=197 NA 11q13.2 Score=797;Name=V$YY1_02 NA NA NA rs11550057 0.08 0.08 0.077 0.0796725 0.1531 0.0208 0.0793 0.0136 0.1544 0.16 0.01 0.09 0.01 0.1234 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.295268 NA NA 0.160303 0.035227 NA 0.051 NA 7.2298636 937 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 937 1 242042301 242042301 G A exonic EXO1 NA nonsynonymous SNV EXO1:NM_003686:exon11:c.G1765A:p.E589K,EXO1:NM_006027:exon11:c.G1765A:p.E589K,EXO1:NM_130398:exon13:c.G1765A:p.E589K exonic ENSG00000174371 NA nonsynonymous SNV ENSG00000174371:ENST00000348581:exon11:c.G1765A:p.E589K,ENSG00000174371:ENST00000518483:exon11:c.G1765A:p.E589K,ENSG00000174371:ENST00000366548:exon13:c.G1765A:p.E589K NA NA 1q43 NA NA NA NA rs1047840 0.36 0.36 0.371 0.351637 0.3688 0.2312 0.3876 0.4781 0.2618 0.36 0.23 0.34 0.53 0.361 0.53 0.69 T 0.001 B 0.004 B 0.097 N 1.000 P 0.49 N 1.24 T -0.938 T 0.000 T 0.046 0.165 4.889 -3.34 -0.841 -0.006 10.091 0.165313 NA 0.85 0.374767 0.475034 ID=COSM146843;OCCURENCE=1(stomach) 0.348 NA 7.2287664 937 5 434722 434722 G C exonic AHRR NA nonsynonymous SNV AHRR:NM_001242412:exon11:c.G1879C:p.D627H,AHRR:NM_020731:exon12:c.G1933C:p.D645H exonic ENSG00000063438 NA nonsynonymous SNV ENSG00000063438:ENST00000506456:exon7:c.G1447C:p.D483H,ENSG00000063438:ENST00000512529:exon9:c.G1417C:p.D473H,ENSG00000063438:ENST00000505113:exon11:c.G1879C:p.D627H,ENSG00000063438:ENST00000316418:exon12:c.G1933C:p.D645H NA NA 5p15.33 NA NA NA NA rs34453673 0.19 0.19 0.179 0.154952 0.4036 0.004 0.2363 0.0113 0.1912 0.41 NA 0.27 0.01 0.3371 0.41 0.59 T 0.0 B 0.0 B 0.748 N 1.000 P -0.975 N 2.33 T -0.902 T 0.000 T 0.06 -1.666 0.012 3.32 0.508 0.329 5.054 -1.666056 NA 0.23 0.364453 0.071393 ID=COSM1437716;OCCURENCE=1(large_intestine) 0.159 NA 7.2281804 937 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 937 2 96798305 96798305 C T exonic ASTL NA nonsynonymous SNV ASTL:NM_001002036:exon6:c.G611A:p.R204H exonic ENSG00000188886 NA nonsynonymous SNV ENSG00000188886:ENST00000342380:exon6:c.G611A:p.R204H NA NA 2q11.1 NA NA NA NA rs41320144 0.02 0.02 0.023 0.028754 0.0338 0.0119 0.0303 0.0408 0.0235 0.03 0.01 0.03 0.02 0.03 0.042 0.13 T 0.019 B 0.013 B 0.233 N 1.000 N 1.235 L -0.06 T -1.038 T 0.042 T 0.075 1.274 10.16 0.941 0.303 -0.586 7.254 1.274202 1.274202 0.13 0.042209 0.026782 NA 0.087 NA 7.2273244 937 20 62896665 62896665 G A exonic PCMTD2 NA synonymous SNV PCMTD2:NM_001104925:exon4:c.G465A:p.P155P,PCMTD2:NM_018257:exon4:c.G465A:p.P155P exonic ENSG00000203880 NA synonymous SNV ENSG00000203880:ENST00000299468:exon4:c.G465A:p.P155P,ENSG00000203880:ENST00000308824:exon4:c.G465A:p.P155P,ENSG00000203880:ENST00000369758:exon4:c.G465A:p.P155P Score=458;Name=lod=97 NA 20q13.33 NA NA Name=9 NA rs17878941 0.11 0.11 0.126 0.108826 0.162 0.0754 0.1124 0.1172 0.0746 0.17 0.05 0.1 0.12 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 -0.996056 NA NA 0.155581 0.093055 NA 0.109 NA 7.2254856 937 14 105410411 105410411 C T exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.G11377A:p.D3793N exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.G11377A:p.D3793N NA NA 14q32.33 NA NA NA NA rs11160825 0.51 0.51 0.5 0.54972 0.5348 0.4087 0.513 0.6263 0.6329 0.53 0.38 0.55 0.63 0.5304 0.66 0.29 T 0.792 P 0.125 B 0.645 N 1.000 P 2.71 M 4.62 T -1.072 T 0.000 T 0.014 1.302 10.26 1.37 -0.025 0.050 6.660 1.302009 1.302009 0.08 0.542648 0.66041 NA 0.601 NA 7.2254854 938 19 43519442 43519442 T C exonic PSG11 NA nonsynonymous SNV PSG11:NM_001113410:exon3:c.A424G:p.N142D,PSG11:NM_203287:exon3:c.A424G:p.N142D,PSG11:NM_002785:exon4:c.A790G:p.N264D exonic ENSG00000243130 NA nonsynonymous SNV ENSG00000243130:ENST00000306322:exon3:c.A424G:p.N142D,ENSG00000243130:ENST00000403486:exon3:c.A424G:p.N142D,ENSG00000243130:ENST00000320078:exon4:c.A790G:p.N264D,ENSG00000243130:ENST00000401740:exon4:c.A790G:p.N264D,ENSG00000243130:ENST00000598133:exon4:c.A790G:p.N264D NA NA 19q13.31 NA NA NA NA rs10414166 0.84 0.84 0.843 0.85643 0.6789 0.999 0.7594 0.9803 0.7935 0.69 1 0.75 0.97 0.75 1 1 T 0.0 B 0.001 B . . 1.000 P -0.65 N 2.82 T -1.006 T 0.000 T 0.013 -1.038 0.21 -2.28 -1.524 -0.180 5.609 -1.037745 NA 1 0.679502 0.931818 NA 0.841 NA 7.2249314 938 X 35820795 35820795 A G exonic MAGEB16 NA nonsynonymous SNV MAGEB16:NM_001099921:exon2:c.A482G:p.H161R exonic ENSG00000189023 NA nonsynonymous SNV ENSG00000189023:ENST00000399985:exon2:c.A482G:p.H161R,ENSG00000189023:ENST00000399988:exon2:c.A482G:p.H161R,ENSG00000189023:ENST00000399989:exon2:c.A482G:p.H161R,ENSG00000189023:ENST00000399987:exon3:c.A482G:p.H161R,ENSG00000189023:ENST00000399992:exon3:c.A578G:p.H193R NA NA Xp21.1 NA NA NA NA rs5973488 0.61 0.61 0.63672 NA NA NA NA NA NA 0.54 0.74 0.58 0.6 0.5746 0.74 0.6 T 0.001 B 0.01 B 0.464 N 1.000 P 0.205 N 3.62 T -1.035 T 0.000 T 0.025 -0.557 1.483 0.77 -0.170 -1.027 6.231 -0.556608 NA 0.61 0.53535 0.584081 ID=COSM150777;OCCURENCE=1(stomach) 0.5 NA 7.2233834 938 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 938 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 938 2 175289259 175289259 G T exonic SCRN3 NA nonsynonymous SNV SCRN3:NM_001193528:exon7:c.G953T:p.S318I,SCRN3:NM_024583:exon7:c.G974T:p.S325I exonic ENSG00000144306 NA nonsynonymous SNV ENSG00000144306:ENST00000272732:exon7:c.G974T:p.S325I,ENSG00000144306:ENST00000409673:exon7:c.G953T:p.S318I NA NA 2q31.1 NA NA NA NA rs41270195 0.02 0.02 0.01 0.0105831 0.0408 NA 0.0115 NA 0.0041 0.04 NA 0.01 NA 0.0277 0.044 0.21 T 0.005 B 0.007 B 0.020 N 1.000 N 0.92 L 3.08 T -0.982 T 0.003 T 0.068 -0.123 3.398 -0.677 0.103 0.068 1.026 -0.122847 NA 0.44 0.043721 0.009532 NA 0.007 NA 7.2211124 938 9 96015256 96015256 C T exonic WNK2 NA synonymous SNV WNK2:NM_006648:exon8:c.C1926T:p.D642D exonic ENSG00000165238 NA synonymous SNV ENSG00000165238:ENST00000297954:exon8:c.C1926T:p.D642D,ENSG00000165238:ENST00000349097:exon8:c.C762T:p.D254D,ENSG00000165238:ENST00000395475:exon8:c.C1884T:p.D628D,ENSG00000165238:ENST00000395477:exon8:c.C1926T:p.D642D,ENSG00000165238:ENST00000427277:exon8:c.C762T:p.D254D,ENSG00000165238:ENST00000448039:exon8:c.C1926T:p.D642D NA NA 9q22.31 NA NA NA NA rs4744201 0.38 0.38 0.335 0.316094 0.4712 0.4345 0.5115 0.062 0.2393 0.48 0.44 0.51 0.07 0.484 0.51 . . . . . . . . 0.946 P . . . . -0.965 T 0.000 T . -1.295 0.038 -3.95 -0.624 -2.814 12.860 -1.295186 NA NA 0.490441 0.143118 NA 0.341 NA 7.2210256 938 16 17292074 17292074 G C exonic XYLT1 NA synonymous SNV XYLT1:NM_022166:exon5:c.C1284G:p.P428P exonic ENSG00000103489 NA synonymous SNV ENSG00000103489:ENST00000261381:exon5:c.C1284G:p.P428P Score=502;Name=lod=146 NA 16p12.3 Score=980;Name=V$GATA1_01 NA NA NA rs28709752 0.14 0.14 0.124 0.126198 0.1461 0.0268 0.1441 0.2209 0.0675 0.15 0.03 0.19 0.21 0.14 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.27329 1.27329 NA 0.160116 0.217569 NA 0.188 NA 7.2204506 938 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 938 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 938 4 5841350 5841350 A G exonic CRMP1 NA synonymous SNV CRMP1:NM_001014809:exon9:c.T1209C:p.H403H,CRMP1:NM_001313:exon9:c.T867C:p.H289H exonic ENSG00000072832 NA synonymous SNV ENSG00000072832:ENST00000324989:exon9:c.T1209C:p.H403H,ENSG00000072832:ENST00000397890:exon9:c.T867C:p.H289H,ENSG00000072832:ENST00000512574:exon9:c.T861C:p.H287H Score=559;Name=lod=249 NA 4p16.2 Score=995;Name=V$EN1_01 NA NA NA rs16837723 0.29 0.29 0.273 0.298323 0.1163 0.4762 0.1628 0.4531 0.1892 0.12 0.49 0.14 0.42 0.2003 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.328523 1.328523 NA 0.131744 0.407853 NA 0.232 NA 7.2183226 938 20 60897104 60897104 C T exonic LAMA5 NA nonsynonymous SNV LAMA5:NM_005560:exon48:c.G6467A:p.G2156E exonic ENSG00000130702 NA nonsynonymous SNV ENSG00000130702:ENST00000252999:exon48:c.G6467A:p.G2156E NA NA 20q13.33 NA NA NA NA rs141208202 0.02 0.02 0.016 0.0163738 0.0437 NA 0.0418 0.003 0.0051 0.04 NA 0.04 0.0041 0.03 0.043 0.17 T 0.164 B 0.06 B 0.469 U 1.000 N 0 N 2.2 T -1.000 T 0.006 T 0.074 0.531 6.876 1.11 0.081 0.871 8.568 0.53097 NA 0.21 0.043067 0.007514 NA 0.014 NA 7.2165664 938 19 1004740 1004740 T C exonic GRIN3B NA nonsynonymous SNV GRIN3B:NM_138690:exon3:c.T1240C:p.W414R exonic ENSG00000116032 NA nonsynonymous SNV ENSG00000116032:ENST00000234389:exon3:c.T1240C:p.W414R NA NA 19p13.3 NA Name=Pol2 NA NA rs2240157 0.65 0.65 0.639 0.68151 0.7157 0.501 0.5403 0.8048 0.7658 0.71 0.48 0.6 0.79 0.6898 0.79 0.55 T 0.0 B 0.0 B 0.024 N 1.000 P -2.175 N 0.88 T -0.988 T 0.000 T 0.044 -1.149 0.103 3.35 0.880 0.585 9.816 -1.149021 NA 0.86 0.711888 0.785552 NA 0.717 NA 7.2159454 938 17 7318061 7318061 T C exonic NLGN2 NA synonymous SNV NLGN2:NM_020795:exon4:c.T738C:p.S246S exonic ENSG00000169992 NA synonymous SNV ENSG00000169992:ENST00000302926:exon4:c.T738C:p.S246S,ENSG00000169992:ENST00000575301:exon5:c.T738C:p.S246S Score=559;Name=lod=250 NA 17p13.1 Score=894;Name=V$AP1_Q4 NA NA NA rs78355381 0.07 0.07 0.067 0.0786741 0.1441 0.001 0.0793 0.0144 0.1779 0.15 NA 0.09 0.02 0.1352 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.641422 NA NA 0.171744 0.041761 NA 0.145 NA 7.2156226 939 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=Pol2,CTCF,CtBP2,ZNF263 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 939 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 939 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=Oct-2,POU2F2,Pol2,Pol2-4H8 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 939 2 120885310 120885310 G A exonic EPB41L5 NA nonsynonymous SNV EPB41L5:NM_001184937:exon17:c.G1384A:p.A462T,EPB41L5:NM_020909:exon17:c.G1384A:p.A462T exonic ENSG00000115109 NA nonsynonymous SNV ENSG00000115109:ENST00000452780:exon16:c.G1384A:p.A462T,ENSG00000115109:ENST00000263713:exon17:c.G1384A:p.A462T,ENSG00000115109:ENST00000443902:exon17:c.G1384A:p.A462T Score=251;Name=lod=14 NA 2q14.2 Score=741;Name=V$ROAZ_01 NA NA NA rs1034489 0.64 0.64 0.625 0.590655 0.7266 0.6736 0.6643 0.3759 0.6033 0.72 0.67 0.7 0.41 0.6719 0.72 1 T 0.0 B 0.0 B 0.021 N 0.000 P -1.995 N -1.3 T -0.933 T 0.000 T 0.107 -1.331 0.031 1.73 0.198 0.605 7.206 -1.331396 NA 1 0.721744 0.445302 NA 0.71 NA 7.2130894 939 1 200522566 200522566 G C exonic KIF14 NA nonsynonymous SNV KIF14:NM_014875:exon30:c.C4897G:p.P1633A exonic ENSG00000118193 NA nonsynonymous SNV ENSG00000118193:ENST00000367350:exon30:c.C4897G:p.P1633A NA NA 1q32.1 NA Name=MafK_(ab50322) NA NA rs12120084 0.26 0.26 0.246 0.219649 0.3917 0.2302 0.2017 0.0424 0.2843 0.4 0.24 0.25 0.07 0.3203 0.41 0.13 T 0.307 B 0.079 B 0.577 N 1.000 P 1.39 L -0.77 T -1.020 T 0.000 T 0.044 1.671 11.55 0.605 0.214 -0.107 7.343 1.670804 1.670804 0.28 0.409651 0.103041 NA 0.254 NA 7.2116824 939 8 143425720 143425720 T C exonic TSNARE1 NA nonsynonymous SNV TSNARE1:NM_145003:exon4:c.A352G:p.T118A exonic ENSG00000171045 NA nonsynonymous SNV ENSG00000171045:ENST00000520166:exon3:c.A352G:p.T118A,ENSG00000171045:ENST00000307180:exon4:c.A352G:p.T118A,ENSG00000171045:ENST00000520462:exon4:c.A352G:p.T118A,ENSG00000171045:ENST00000524325:exon4:c.A352G:p.T118A,ENSG00000171045:ENST00000518720:exon5:c.A400G:p.T134A NA NA 8q24.3 NA NA NA NA rs10100935 0.54 0.54 0.51 0.586062 0.336 0.631 0.4841 0.8608 0.498 0.32 0.63 0.45 0.84 0.4476 0.84 1 T 0.0 B 0.0 B 0.062 N 1.000 P -0.46 N 2.74 T -0.965 T 0.000 T 0.188 -2.526 0.003 2.2 -0.050 -0.656 5.721 -2.52648 NA 1 0.338424 0.752164 NA 0.536 NA 7.2113094 939 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 939 20 49214156 49214156 A G exonic FAM65C NA nonsynonymous SNV FAM65C:NM_080829:exon14:c.T1739C:p.L580P exonic ENSG00000042062 NA nonsynonymous SNV ENSG00000042062:ENST00000045083:exon14:c.T1739C:p.L580P,ENSG00000042062:ENST00000327979:exon14:c.T1739C:p.L580P,ENSG00000042062:ENST00000535356:exon14:c.T1751C:p.L584P NA NA 20q13.13 NA NA Name=5 NA rs6020624 0.71 0.71 0.727 0.698283 0.7058 0.7034 0.6758 0.7337 0.6534 0.69 0.71 0.66 0.75 0.7094 0.81 0.17 T 0.0 B 0.0 B 0.485 N 1.000 P -1.79 N 2.58 T -1.056 T 0.000 T 0.077 -0.813 0.642 1.11 0.101 1.921 4.955 -0.813151 NA 0.36 0.707093 0.733999 NA 0.725 NA 7.2110404 939 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 939 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 939 1 19566881 19566881 C T exonic EMC1 NA synonymous SNV EMC1:NM_001271429:exon6:c.G630A:p.E210E,EMC1:NM_001271427:exon7:c.G696A:p.E232E,EMC1:NM_001271428:exon7:c.G696A:p.E232E,EMC1:NM_015047:exon7:c.G696A:p.E232E exonic ENSG00000127463 NA synonymous SNV ENSG00000127463:ENST00000375208:exon6:c.G630A:p.E210E,ENSG00000127463:ENST00000375199:exon7:c.G696A:p.E232E,ENSG00000127463:ENST00000477853:exon7:c.G696A:p.E232E Score=491;Name=lod=132 NA 1p36.13 Score=735;Name=V$MYOGNF1_01 NA NA NA rs12084825 0.11 0.11 0.107 0.0858626 0.166 0.001 0.1455 0.1051 0.0225 0.16 0.0017 0.17 0.1 0.1278 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.603888 2.603888 NA 0.162674 0.108261 NA 0.167 NA 7.2101926 939 7 107872816 107872816 G A exonic NRCAM NA synonymous SNV NRCAM:NM_001037132:exon4:c.C381T:p.N127N,NRCAM:NM_005010:exon6:c.C363T:p.N121N,NRCAM:NM_001193582:exon7:c.C381T:p.N127N,NRCAM:NM_001193583:exon7:c.C381T:p.N127N,NRCAM:NM_001193584:exon7:c.C381T:p.N127N exonic ENSG00000091129 NA synonymous SNV ENSG00000091129:ENST00000417701:exon4:c.C363T:p.N121N,ENSG00000091129:ENST00000425651:exon4:c.C381T:p.N127N,ENSG00000091129:ENST00000351718:exon6:c.C363T:p.N121N,ENSG00000091129:ENST00000379024:exon7:c.C381T:p.N127N,ENSG00000091129:ENST00000379028:exon7:c.C381T:p.N127N,ENSG00000091129:ENST00000379022:exon8:c.C381T:p.N127N,ENSG00000091129:ENST00000413765:exon8:c.C381T:p.N127N Score=483;Name=lod=123 NA 7q31.1 NA NA Name=11 NA rs2072546 0.23 0.23 0.196 0.213059 0.1243 0.5466 0.2723 0.0061 0.1984 0.13 0.54 0.25 0.01 0.1966 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.214067 NA NA 0.135814 0.032683 ID=COSM1447237,COSM1447238;OCCURENCE=1(large_intestine) 0.109 NA 7.2099526 939 5 102894977 102894977 T C exonic NUDT12 NA synonymous SNV NUDT12:NM_031438:exon3:c.A399G:p.R133R exonic ENSG00000112874 NA synonymous SNV ENSG00000112874:ENST00000230792:exon3:c.A399G:p.R133R,ENSG00000112874:ENST00000507423:exon3:c.A345G:p.R115R Score=515;Name=lod=165 NA 5q21.2 Score=812;Name=V$CART1_01 NA NA NA rs7734923 0.1 0.1 0.081 0.0996406 0.1561 0.0129 0.1499 0.1407 0.0399 0.14 0.01 0.14 0.12 0.133 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.961996 NA NA 0.168062 0.126249 NA 0.087 NA 7.2095046 939 1 203317162 203317162 C T exonic FMOD NA synonymous SNV FMOD:NM_002023:exon2:c.G237A:p.E79E exonic ENSG00000122176 NA synonymous SNV ENSG00000122176:ENST00000354955:exon2:c.G237A:p.E79E Score=544;Name=lod=217 NA 1q32.1 Score=739;Name=V$ROAZ_01 NA NA NA rs7543148 0.65 0.65 0.648 0.618411 0.8608 0.6528 0.7925 0.2708 0.68 0.87 0.61 0.79 0.28 0.7595 0.87 0.27 T . . . . . . 0.000 P . . . . -1.044 T 0.000 T . 1.635 11.42 2.05 0.645 0.551 10.470 1.634957 1.634957 NA 0.837093 0.339764 NA 0.703 NA 7.2092736 939 2 71044211 71044211 C T exonic CLEC4F NA nonsynonymous SNV CLEC4F:NM_001258027:exon4:c.G302A:p.R101Q,CLEC4F:NM_173535:exon4:c.G302A:p.R101Q exonic ENSG00000152672 NA nonsynonymous SNV ENSG00000152672:ENST00000272367:exon4:c.G302A:p.R101Q,ENSG00000152672:ENST00000426626:exon4:c.G302A:p.R101Q NA NA 2p13.3 NA NA NA NA rs2075221 0.35 0.35 0.328 0.330471 0.3817 0.5248 0.402 0.028 0.4356 0.38 0.6 0.34 0.03 0.3759 0.6 1 T 0.001 B 0.0 B 0.100 N 1.000 P -1.7 N 5.0 T -1.032 T 0.000 T 0.019 -0.508 1.674 3.88 0.878 0.690 7.714 -0.508202 NA 1 0.36686 0.096005 NA 0.29 NA 7.2088734 939 17 77075670 77075670 C T exonic ENGASE NA synonymous SNV ENGASE:NM_001042573:exon4:c.C516T:p.P172P exonic ENSG00000167280 NA synonymous SNV ENSG00000167280:ENST00000579016:exon4:c.C516T:p.P172P Score=439;Name=lod=81 NA 17q25.3 Score=682;Name=V$PPARG_02 NA NA NA rs3744184 0.3 0.3 NA 0.410343 0.173 0.377 0.402 0.6135 0.4202 0.15 0.34 0.31 0.49 0.2853 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.089 NA NA NA NA NA 0.319 NA 7.2083666 939 4 185650154 185650154 G A exonic MLF1IP NA synonymous SNV MLF1IP:NM_024629:exon3:c.C132T:p.F44F exonic ENSG00000151725 NA synonymous SNV ENSG00000151725:ENST00000281453:exon3:c.C132T:p.F44F,ENSG00000151725:ENST00000510146:exon3:c.C132T:p.F44F,ENSG00000151725:ENST00000514781:exon3:c.C45T:p.F15F,ENSG00000151725:ENST00000541971:exon3:c.C132T:p.F44F NA NA 4q35.1 NA Name=c-Jun,FOXA1_(C-20),c-Fos,HNF4A_(H-171),STAT3,FOXA2_(SC-6554) Name=68 NA rs6818447 0.14 0.14 0.141 0.144569 0.1481 0.001 0.1354 0.295 0.092 0.14 NA 0.15 0.29 0.1468 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.994669 NA NA 0.163488 0.269405 NA 0.21 NA 7.2082786 939 12 80771813 80771813 G A exonic OTOGL NA synonymous SNV OTOGL:NM_173591:exon58:c.G7020A:p.T2340T exonic ENSG00000165899 NA synonymous SNV ENSG00000165899:ENST00000546620:exon12:c.G1077A:p.T359T,ENSG00000165899:ENST00000458043:exon58:c.G7020A:p.T2340T,ENSG00000165899:ENST00000547103:exon58:c.G6984A:p.T2328T NA NA 12q21.31 Score=777;Name=V$ARNT_02 NA NA NA rs2717477 0.69 0.69 0.673 0.683107 0.832 0.7629 0.7046 0.4002 0.8149 0.83 0.75 0.72 0.4 0.7874 0.84 . . . . . . . . 0.000 P . . . . -0.964 T 0.000 T . 0.381 6.067 -11.4 -1.931 -1.556 0.281 0.380669 NA NA 0.839149 0.495459 NA 0.623 NA 7.2081176 939 1 40149642 40149642 G T exonic HPCAL4 NA synonymous SNV HPCAL4:NM_016257:exon3:c.C345A:p.R115R exonic ENSG00000116983 NA synonymous SNV ENSG00000116983:ENST00000372844:exon3:c.C345A:p.R115R Score=735;Name=lod=1298 NA 1p34.2 Score=874;Name=V$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 939 4 69964271 69964271 A G exonic UGT2B7 NA synonymous SNV UGT2B7:NM_001074:exon2:c.A735G:p.T245T exonic ENSG00000171234 NA synonymous SNV ENSG00000171234:ENST00000305231:exon2:c.A735G:p.T245T,ENSG00000171234:ENST00000508661:exon2:c.A735G:p.T245T NA NA 4q13.2 NA Name=p300,HDAC2_(SC-6296),TCF4,SP1,STAT3,CEBPB Name=12 NA rs28365062 0.15 0.15 0.145 0.148562 0.1551 0.0437 0.3228 0.1543 0.1186 0.15 0.05 0.3 0.15 0.1666 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.689427 NA NA 0.137558 0.14503 NA 0.167 NA 7.2074086 939 6 33272855 33272855 G C exonic TAPBP NA nonsynonymous SNV TAPBP:NM_172209:exon3:c.C518G:p.T173R,TAPBP:NM_003190:exon4:c.C779G:p.T260R,TAPBP:NM_172208:exon4:c.C779G:p.T260R exonic ENSG00000231925 NA nonsynonymous SNV ENSG00000231925:ENST00000489157:exon3:c.C518G:p.T173R,ENSG00000231925:ENST00000426633:exon4:c.C779G:p.T260R,ENSG00000231925:ENST00000434618:exon4:c.C779G:p.T260R,ENSG00000231925:ENST00000456592:exon4:c.C779G:p.T260R,ENSG00000231925:ENST00000475304:exon5:c.C833G:p.T278R NA NA 6p21.32 NA NA NA NA rs2071888 0.56 0.56 0.546 0.591254 0.5169 0.4157 0.5692 0.7572 0.6401 0.51 0.4 0.61 0.77 0.5682 0.77 0.62 T 0.61 P 0.154 B 0.023 N 1.000 P . . 1.62 T -1.042 T 0.018 T 0.038 -1.397 0.023 3.82 0.593 0.940 13.341 -1.397465 NA 0.37 0.542093 0.735588 ID=COSM1180608,COSM1180607;OCCURENCE=1(upper_aerodigestive_tract) 0.587 NA 7.2061404 939 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 940 1 158687224 158687224 G A exonic OR6K3 NA nonsynonymous SNV OR6K3:NM_001005327:exon1:c.C682T:p.P228S exonic ENSG00000203757 NA nonsynonymous SNV ENSG00000203757:ENST00000368145:exon1:c.C682T:p.P228S,ENSG00000203757:ENST00000368146:exon1:c.C730T:p.P244S NA NA 1q23.1 NA NA Name=4 NA rs857703 0.34 0.34 0.283 0.280351 0.3946 0.4474 0.389 0.09 0.1708 0.39 0.42 0.39 0.11 0.3563 0.42 0.1 T 0.08 B 0.05 B . . 1.000 P 1.4 L 1.23 T -1.062 T 0.032 T 0.042 2.244 13.46 0.813 0.055 -0.113 7.996 2.243764 2.243764 0.07 0.377558 0.133681 ID=COSM146654;OCCURENCE=1(stomach) 0.239 NA 7.2048754 940 1 66831370 66831370 G A exonic PDE4B NA synonymous SNV PDE4B:NM_001037339:exon6:c.G789A:p.E263E,PDE4B:NM_001037340:exon11:c.G1260A:p.E420E,PDE4B:NM_001037341:exon13:c.G1305A:p.E435E,PDE4B:NM_002600:exon13:c.G1305A:p.E435E exonic ENSG00000184588 NA synonymous SNV ENSG00000184588:ENST00000371045:exon6:c.G789A:p.E263E,ENSG00000184588:ENST00000480109:exon6:c.G606A:p.E202E,ENSG00000184588:ENST00000423207:exon11:c.G1260A:p.E420E,ENSG00000184588:ENST00000371049:exon12:c.G1305A:p.E435E,ENSG00000184588:ENST00000329654:exon13:c.G1305A:p.E435E,ENSG00000184588:ENST00000341517:exon13:c.G1305A:p.E435E Score=606;Name=lod=388 NA 1p31.3 NA Name=GATA-2 Name=52 NA rs783036 0.46 0.46 0.472 0.514976 0.492 0.1458 0.4467 0.7927 0.592 0.5 0.13 0.46 0.8 0.4868 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 0.748609 NA NA 0.483372 0.737177 NA 0.587 NA 7.2044946 940 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$BRACH_01 NA NA NA rs2229523 0.76 0.76 0.753 0.793331 0.7028 0.5972 0.8401 0.9644 0.8241 0.71 0.6 0.84 0.95 0.734 0.95 0.31 T 0.0 B 0.001 B 0.169 N 0.000 P -0.355 N 0.59 T -1.010 T 0.018 T 0.202 0.121 4.651 -0.403 -0.825 -0.070 1.809 0.121107 NA 0.15 0.692442 0.924875 NA 0.877 NA 7.2040914 940 14 75590846 75590846 A T exonic NEK9 NA synonymous SNV NEK9:NM_033116:exon2:c.T300A:p.I100I exonic ENSG00000119638 NA synonymous SNV ENSG00000119638:ENST00000238616:exon2:c.T300A:p.I100I Score=656;Name=lod=618 NA 14q24.3 NA Name=eGFP-FOS,eGFP-JunD,Pol2-4H8,c-Jun,GATA-2,Pol2 Name=120 NA rs175449 0.41 0.41 0.416 0.427915 0.4911 0.1528 0.3631 0.5847 0.4806 0.5 0.18 0.41 0.55 0.4664 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.82162 1.82162 NA 0.506744 0.558557 NA 0.442 NA 7.2024226 940 9 126128211 126128211 T C exonic CRB2 NA nonsynonymous SNV CRB2:NM_173689:exon3:c.T434C:p.M145T exonic ENSG00000148204 NA nonsynonymous SNV ENSG00000148204:ENST00000359999:exon3:c.T434C:p.M145T,ENSG00000148204:ENST00000373631:exon3:c.T434C:p.M145T NA NA 9q33.3 Score=791;Name=V$PPARG_03 NA NA NA rs1105223 0.37 0.37 0.354 0.375399 0.3817 0.4107 0.3516 0.3714 0.3548 0.39 0.37 0.4 0.33 0.366 0.4 0.82 T 0.0 B 0.0 B 0.284 N 1.000 P -1.28 N -1.26 T -1.091 T 0.000 T 0.037 -1.063 0.18 -0.624 -0.849 -0.472 3.639 -1.062689 NA 0.48 0.383789 0.353681 NA 0.203 NA 7.2018444 940 1 155030557 155030557 A C exonic ADAM15 NA synonymous SNV ADAM15:NM_001261464:exon14:c.A1677C:p.T559T,ADAM15:NM_001261465:exon14:c.A1647C:p.T549T,ADAM15:NM_001261466:exon14:c.A1599C:p.T533T,ADAM15:NM_003815:exon14:c.A1647C:p.T549T,ADAM15:NM_207191:exon14:c.A1647C:p.T549T,ADAM15:NM_207194:exon14:c.A1647C:p.T549T,ADAM15:NM_207195:exon14:c.A1647C:p.T549T,ADAM15:NM_207196:exon14:c.A1647C:p.T549T,ADAM15:NM_207197:exon14:c.A1647C:p.T549T exonic ENSG00000143537 NA synonymous SNV ENSG00000143537:ENST00000368410:exon7:c.A765C:p.T255T,ENSG00000143537:ENST00000368413:exon7:c.A765C:p.T255T,ENSG00000143537:ENST00000271836:exon14:c.A1647C:p.T549T,ENSG00000143537:ENST00000355956:exon14:c.A1647C:p.T549T,ENSG00000143537:ENST00000356955:exon14:c.A1647C:p.T549T,ENSG00000143537:ENST00000359280:exon14:c.A1647C:p.T549T,ENSG00000143537:ENST00000360674:exon14:c.A1647C:p.T549T,ENSG00000143537:ENST00000368412:exon14:c.A1647C:p.T549T,ENSG00000143537:ENST00000447332:exon14:c.A1599C:p.T533T,ENSG00000143537:ENST00000449910:exon14:c.A1647C:p.T549T,ENSG00000143537:ENST00000526491:exon14:c.A1647C:p.T549T,ENSG00000143537:ENST00000529473:exon14:c.A1647C:p.T549T,ENSG00000143537:ENST00000531455:exon14:c.A1677C:p.T559T Score=343;Name=lod=33 NA 1q22 NA Name=CTCF,CTCF_(SC-5916) Name=3 NA rs11264303 0.34 0.34 0.342 0.324481 0.5179 0.0069 0.3127 0.4508 0.2904 0.51 0.01 0.31 0.49 0.4216 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.023767 NA NA 0.52593 0.480935 NA 0.42 NA 7.2012366 940 13 46629944 46629944 A G exonic CPB2 NA nonsynonymous SNV CPB2:NM_001872:exon10:c.T1040C:p.I347T exonic ENSG00000080618 NA nonsynonymous SNV ENSG00000080618:ENST00000439329:exon9:c.T929C:p.I310T,ENSG00000080618:ENST00000181383:exon10:c.T1040C:p.I347T NA NA 13q14.13 NA NA NA NA rs1926447 0.8 0.8 0.822 0.783147 0.6879 0.8065 0.7738 0.9039 0.7004 0.71 0.84 0.77 0.91 0.7416 0.91 0.48 T 0.0 B 0.001 B 0.615 N 1.000 P -1.01 N 2.85 T -1.016 T 0.000 T 0.05 -0.963 0.32 -7.55 -1.637 -0.823 11.286 -0.962594 NA 0.61 0.70307 0.86246 NA 0.725 NA 7.2007634 940 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$AREB6_01 NA NA NA rs2293912 0.15 0.15 0.099 0.146765 0.1402 0.1567 0.3084 0.0477 0.1626 0.14 0.15 0.29 0.06 0.1662 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450797 NA NA 0.159767 0.054698 NA 0.101 NA 7.2004996 940 4 55152040 55152040 C T exonic PDGFRA NA synonymous SNV PDGFRA:NM_006206:exon18:c.C2472T:p.V824V exonic ENSG00000134853,ENSG00000145216 NA synonymous SNV ENSG00000134853:ENST00000257290:exon18:c.C2472T:p.V824V,ENSG00000145216:ENST00000507166:exon19:c.C1752T:p.V584V Score=529;Name=lod=188 NA 4q12 Score=854;Name=V$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 940 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 940 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 940 19 45211407 45211407 C T exonic CEACAM16 NA synonymous SNV CEACAM16:NM_001039213:exon6:c.C1215T:p.T405T exonic ENSG00000213892 NA synonymous SNV ENSG00000213892:ENST00000405314:exon5:c.C1215T:p.T405T,ENSG00000213892:ENST00000587331:exon6:c.C1215T:p.T405T Score=403;Name=lod=58 NA 19q13.32 Score=828;Name=V$PAX3_01 NA NA NA rs61744497 0.13 0.13 0.123 0.108427 0.1551 0.2282 0.0447 0.0106 0.1145 0.16 0.24 0.06 0.01 0.1725 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.053845 NA NA 0.14037 0.031915 NA 0.094 NA 7.1986966 940 19 53086124 53086124 C A exonic ZNF701 NA nonsynonymous SNV ZNF701:NM_018260:exon4:c.C812A:p.T271K,ZNF701:NM_001172655:exon5:c.C1010A:p.T337K exonic ENSG00000167562 NA nonsynonymous SNV ENSG00000167562:ENST00000391785:exon4:c.C812A:p.T271K,ENSG00000167562:ENST00000301093:exon5:c.C1010A:p.T337K,ENSG00000167562:ENST00000540331:exon5:c.C1010A:p.T337K NA NA 19q13.41 NA NA NA NA rs373554 0.65 0.65 0.636 0.64397 0.7117 0.497 0.6182 0.6687 0.7106 0.72 0.51 0.65 0.71 0.697 0.73 1 T 0.0 B 0.0 B . . 1.000 P -1.405 N 2.33 T -0.993 T 0.000 T 0.07 -2.082 0.006 -0.451 -0.996 -1.575 5.814 -2.082247 NA 1 0.726512 0.668861 NA 0.681 NA 7.1981214 940 1 208063067 208063067 G A intronic CD34 NA NA NA exonic ENSG00000174059 NA nonsynonymous SNV ENSG00000174059:ENST00000367036:exon1:c.C116T:p.A39V NA NA 1q32.2 NA NA NA NA rs2179634 0.26 0.26 0.246 0.233027 0.3559 0.2083 0.2233 0.1747 0.2178 0.36 0.22 0.24 0.17 0.2742 0.36 0.48 T 0.0 B 0.0 B . . 1.000 P . . 0.77 T -0.959 T 0.000 T 0.024 -0.708 0.945 -7.4 -1.452 -0.347 0.372 -0.708422 NA 0.11 0.339026 0.197489 NA 0.196 NA 7.1975407 940 19 36015652 36015652 C T exonic SBSN NA synonymous SNV SBSN:NM_001166034:exon3:c.G1710A:p.S570S,SBSN:NM_001166035:exon3:c.G447A:p.S149S,SBSN:NM_198538:exon4:c.G681A:p.S227S exonic ENSG00000189001 NA synonymous SNV ENSG00000189001:ENST00000452271:exon3:c.G1710A:p.S570S,ENSG00000189001:ENST00000588674:exon3:c.G387A:p.S129S,ENSG00000189001:ENST00000518157:exon4:c.G681A:p.S227S Score=395;Name=lod=54 NA 19q13.12 Score=842;Name=V$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 940 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,ZNF274,SETDB1 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 940 2 31178818 31178818 C T exonic GALNT14 NA synonymous SNV GALNT14:NM_024572:exon5:c.G492A:p.K164K,GALNT14:NM_001253826:exon6:c.G507A:p.K169K,GALNT14:NM_001253827:exon7:c.G432A:p.K144K exonic ENSG00000158089 NA synonymous SNV ENSG00000158089:ENST00000356174:exon4:c.G393A:p.K131K,ENSG00000158089:ENST00000430167:exon4:c.G393A:p.K131K,ENSG00000158089:ENST00000349752:exon5:c.G492A:p.K164K,ENSG00000158089:ENST00000324589:exon6:c.G507A:p.K169K,ENSG00000158089:ENST00000420311:exon6:c.G387A:p.K129K,ENSG00000158089:ENST00000406653:exon7:c.G432A:p.K144K Score=504;Name=lod=149 NA 2p23.1 NA Name=CEBPB NA NA rs2288100 0.13 0.13 0.131 0.127995 0.1491 0.2034 0.1095 0.0567 0.138 0.15 0.19 0.1 0.07 0.1541 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 1.335294 1.335294 NA 0.167326 0.063777 NA 0.072 NA 7.1961406 940 20 7964476 7964476 T C exonic TMX4 NA nonsynonymous SNV TMX4:NM_021156:exon7:c.A644G:p.Y215C exonic ENSG00000125827 NA nonsynonymous SNV ENSG00000125827:ENST00000527925:exon6:c.A560G:p.Y187C,ENSG00000125827:ENST00000246024:exon7:c.A644G:p.Y215C NA NA 20p12.3 NA NA NA NA rs1135711 0.02 0.02 0.019 0.0107827 0.0408 NA 0.0101 0.0008 0.0051 0.05 NA 0.01 NA 0.0395 0.057 0.61 T 0.001 B 0.002 B 0.005 N 0.999 N 0.55 N 2.93 T -0.977 T 0.002 T 0.318 0.774 8.09 -0.494 -0.101 0.239 4.653 0.774247 NA 0.26 0.057093 0.010213 NA 0.007 NA 7.1959404 940 1 46086077 46086077 C T exonic CCDC17 NA nonsynonymous SNV CCDC17:NM_001114938:exon13:c.G1739A:p.S580N,CCDC17:NM_001190182:exon13:c.G1712A:p.S571N exonic ENSG00000159588 NA nonsynonymous SNV ENSG00000159588:ENST00000445048:exon2:c.G203A:p.S68N,ENSG00000159588:ENST00000343901:exon12:c.G1643A:p.S548N,ENSG00000159588:ENST00000421127:exon13:c.G1712A:p.S571N,ENSG00000159588:ENST00000528266:exon13:c.G1739A:p.S580N NA NA 1p34.1 NA NA Name=8 NA rs3014246 0.71 0.71 0.698 0.686502 0.7207 0.6925 0.6542 0.7292 0.6104 0.71 0.69 0.69 0.73 0.7094 0.74 0.79 T 0.001 B 0.002 B . . 1.000 P 1.95 M 2.25 T -0.917 T 0.000 T 0.007 -0.857 0.533 -0.827 -0.505 -0.302 6.069 -0.856824 NA 0.06 0.707326 0.744096 NA 0.601 NA 7.1959074 940 22 50589196 50589196 C A exonic MOV10L1 NA synonymous SNV MOV10L1:NM_001164106:exon3:c.C141A:p.G47G,MOV10L1:NM_001164104:exon21:c.C2760A:p.G920G,MOV10L1:NM_001164105:exon21:c.C2700A:p.G900G,MOV10L1:NM_018995:exon21:c.C2760A:p.G920G exonic ENSG00000073146 NA synonymous SNV ENSG00000073146:ENST00000395852:exon3:c.C141A:p.G47G,ENSG00000073146:ENST00000262794:exon21:c.C2760A:p.G920G,ENSG00000073146:ENST00000395858:exon21:c.C2760A:p.G920G,ENSG00000073146:ENST00000540615:exon21:c.C2700A:p.G900G,ENSG00000073146:ENST00000545383:exon22:c.C2760A:p.G920G Score=336;Name=lod=31 NA 22q13.33 Score=747;Name=V$TCF11MAFG_01 NA NA NA rs2294396 0.15 0.15 0.132 0.144369 0.172 0.2431 0.1081 0.0219 0.2055 0.17 0.22 0.16 0.03 0.1495 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.378831 1.378831 NA 0.15 0.038584 NA 0.159 NA 7.1951666 941 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 941 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 941 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 941 3 5024771 5024771 T C exonic BHLHE40 NA synonymous SNV BHLHE40:NM_003670:exon5:c.T633C:p.G211G exonic ENSG00000134107 NA synonymous SNV ENSG00000134107:ENST00000256495:exon5:c.T633C:p.G211G NA NA 3p26.1 NA Name=Pol2(b),Pol2-4H8,Pol2 Name=48 NA rs908078 0.17 0.17 0.168 0.157947 0.1471 0.1915 0.2435 0.0855 0.1718 0.15 0.2 0.23 0.13 0.172 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247454 NA NA 0.155116 0.088062 NA 0.181 NA 7.1924506 941 6 118886961 118886961 G T exonic CEP85L NA nonsynonymous SNV CEP85L:NM_001042475:exon3:c.C751A:p.P251T,CEP85L:NM_206921:exon3:c.C751A:p.P251T,CEP85L:NM_001178035:exon4:c.C760A:p.P254T exonic ENSG00000111860 NA nonsynonymous SNV ENSG00000111860:ENST00000360290:exon3:c.C445A:p.P149T,ENSG00000111860:ENST00000368491:exon3:c.C751A:p.P251T,ENSG00000111860:ENST00000419517:exon3:c.C751A:p.P251T,ENSG00000111860:ENST00000368488:exon4:c.C760A:p.P254T,ENSG00000111860:ENST00000434604:exon4:c.C760A:p.P254T,ENSG00000111860:ENST00000392500:exon5:c.C760A:p.P254T NA NA 6q22.31 NA NA NA NA rs3734382 0.6 0.6 0.624 0.606629 0.7346 0.3185 0.4971 0.761 0.6411 0.74 0.31 0.54 0.76 0.6707 0.76 1 T 0.0 B 0.0 B 0.547 N 1.000 P -1.59 N 3.28 T -0.969 T 0.003 T 0.227 -2.2 0.005 -4.21 -1.045 -0.202 7.931 -2.200275 NA 1 0.736977 0.745574 ID=COSM150173;OCCURENCE=1(stomach) 0.688 NA 7.1910564 941 12 11149769 11149769 T C exonic TAS2R20 NA nonsynonymous SNV TAS2R20:NM_176889:exon1:c.A706G:p.I236V exonic ENSG00000255837 NA nonsynonymous SNV ENSG00000255837:ENST00000538986:exon1:c.A706G:p.I236V NA NA 12p13.2 NA NA NA NA rs10845281 0.41 0.41 0.382 0.422923 0.3817 0.755 0.3847 0.0651 0.6339 0.37 0.74 0.43 0.07 0.4115 0.74 0.03 D 0.0 B 0.004 B 0.425 U 1.000 P 0.935 L 5.6 T -1.073 T 0.000 T 0.054 0.144 4.775 -1.57 -0.493 0.139 0.422 0.144169 NA 0.05 0.350698 0.100318 NA 0.355 NA 7.1894354 941 17 38146154 38146154 T C exonic PSMD3 NA synonymous SNV PSMD3:NM_002809:exon5:c.T849C:p.N283N exonic ENSG00000108344 NA synonymous SNV ENSG00000108344:ENST00000264639:exon5:c.T849C:p.N283N,ENSG00000108344:ENST00000541736:exon5:c.T435C:p.N145N Score=603;Name=lod=376 NA 17q21.1 Score=922;Name=V$SOX5_01 NA NA NA rs9916279 0.18 0.18 0.188 0.16853 0.165 0.0069 0.1398 0.3805 0.0726 0.17 0.01 0.15 0.42 0.1478 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.111437 NA NA 0.164651 0.336586 NA 0.239 NA 7.1892156 941 2 102968362 102968362 T C exonic IL1RL1 NA nonsynonymous SNV IL1RL1:NM_016232:exon11:c.T1652C:p.L551S exonic ENSG00000115602 NA nonsynonymous SNV ENSG00000115602:ENST00000233954:exon11:c.T1652C:p.L551S NA NA 2q12.1 Score=747;Name=V$ROAZ_01 NA NA NA rs10206753 0.4 0.4 0.416 0.385184 0.4046 0.125 0.2853 0.7542 0.2055 0.41 0.15 0.31 0.76 0.353 0.76 0.15 T 0.352 B 0.02 B 0.000 N 1.000 P 1.385 L -0.02 T -0.910 T 0.000 T 0.068 1.36 10.47 1.12 0.225 0.179 3.956 1.359577 1.359577 0 0.386602 0.698087 NA 0.413 NA 7.1891314 941 3 47452118 47452118 G A exonic PTPN23 NA nonsynonymous SNV PTPN23:NM_015466:exon20:c.G2830A:p.A944T exonic ENSG00000076201 NA nonsynonymous SNV ENSG00000076201:ENST00000431726:exon19:c.G2452A:p.A818T,ENSG00000076201:ENST00000265562:exon20:c.G2830A:p.A944T NA NA 3p21.31 NA NA NA NA rs6780013 0.34 0.34 0.352 0.345248 0.3817 0.4028 0.3242 0.2526 0.3885 0.39 0.39 0.3 0.23 0.3708 0.39 0.63 T 0.0 B 0.0 B 0.313 N 1.000 P -0.345 N 4.31 T -0.972 T 0.000 T 0.022 -1.717 0.011 -5.83 -0.466 -0.939 5.811 -1.717369 NA 1 0.39186 0.262823 NA 0.007 NA 7.1889734 941 1 184663537 184663537 A C exonic EDEM3 NA nonsynonymous SNV EDEM3:NM_025191:exon20:c.T2459G:p.I820S exonic ENSG00000116406 NA nonsynonymous SNV ENSG00000116406:ENST00000439962:exon6:c.T803G:p.I268S,ENSG00000116406:ENST00000318130:exon20:c.T2459G:p.I820S,ENSG00000116406:ENST00000367512:exon21:c.T2378G:p.I793S NA NA 1q25.3 Score=855;Name=V$TAL1BETAITF2_01 NA NA NA rs9425343 0.34 0.34 0.298 0.353435 0.3698 0.5784 0.3401 0.0356 0.544 0.37 0.52 0.37 0.06 0.3911 0.52 0.73 T 0.001 B 0.002 B 0.905 N 1.000 P 0 N -0.65 T -0.951 T 0.000 T 0.148 -0.708 0.946 1.12 0.295 0.294 6.32 -0.707891 NA 0.77 0.383926 0.096005 NA 0.355 NA 7.1885074 941 16 48227862 48227862 G A exonic ABCC11 NA synonymous SNV ABCC11:NM_033151:exon18:c.C2436T:p.F812F,ABCC11:NM_032583:exon19:c.C2436T:p.F812F,ABCC11:NM_145186:exon19:c.C2436T:p.F812F exonic ENSG00000121270 NA synonymous SNV ENSG00000121270:ENST00000394747:exon18:c.C2436T:p.F812F,ENSG00000121270:ENST00000353782:exon19:c.C2436T:p.F812F,ENSG00000121270:ENST00000356608:exon19:c.C2436T:p.F812F,ENSG00000121270:ENST00000394748:exon19:c.C2436T:p.F812F NA NA 16q12.1 NA Name=MafK_(SC-477),MafF_(M8194) Name=2 NA rs11866251 0.14 0.14 0.13 0.138778 0.164 0.0446 0.1311 0.2738 0.0327 0.15 0.02 0.13 0.27 0.1477 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07856 NA NA 0.167791 0.226488 NA 0.152 NA 7.1871756 941 12 108954823 108954823 C T exonic SART3 NA synonymous SNV SART3:NM_014706:exon1:c.G108A:p.R36R exonic ENSG00000075856 NA synonymous SNV ENSG00000075856:ENST00000228284:exon1:c.G108A:p.R36R,ENSG00000075856:ENST00000431469:exon1:c.G108A:p.R36R,ENSG00000075856:ENST00000546611:exon1:c.G108A:p.R36R,ENSG00000075856:ENST00000546728:exon1:c.G108A:p.R36R,ENSG00000075856:ENST00000546815:exon1:c.G108A:p.R36R,ENSG00000075856:ENST00000547528:exon1:c.G108A:p.R36R NA NA 12q23.3 NA Name=HA-E2F1,Pol2(phosphoS2),Pol2,POU2F2,TAF7_(SQ-8),Pol2-4H8,NFKB,TAF1,HEY1,Oct-2,c-Myc,YY1_(C-20),E2F4,Sin3Ak-20,YY1,TBP,ZNF263 Name=148 NA rs1063936 0.77 0.77 0.732 0.749601 0.831 0.9355 0.8112 0.4372 0.8528 0.83 0.92 0.82 0.46 0.8152 0.92 0.12 T . . . . . . 1.000 P . . . . -1.061 T 0.000 T . 0.656 7.516 2.33 0.741 0.920 4.412 0.655744 NA 0 0.833953 0.507263 NA 0.746 NA 7.1865136 941 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 942 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 942 5 101631761 101631761 T C exonic SLCO4C1 NA nonsynonymous SNV SLCO4C1:NM_180991:exon1:c.A206G:p.N69S exonic ENSG00000173930 NA nonsynonymous SNV ENSG00000173930:ENST00000310954:exon1:c.A206G:p.N69S NA NA 5q21.1 NA NA NA NA rs76381196 0.03 0.03 0.03 0.0273562 0.0586 0.0238 0.0418 0.003 0.0215 0.04 0.04 0.05 NA 0.0386 0.052 0.71 T 0.0 B 0.0 B 0.233 N 1.000 N 0.755 N 1.2 T -1.077 T 0.010 T 0.001 -0.876 0.489 0.017 -0.021 0.523 3.828 -0.876175 NA 0.79 0.052326 0.009759 NA 0.007 NA 7.1838074 942 16 2812647 2812647 C T exonic SRRM2 NA synonymous SNV SRRM2:NM_016333:exon11:c.C2118T:p.S706S exonic ENSG00000167978 NA synonymous SNV ENSG00000167978:ENST00000571378:exon10:c.C1830T:p.S610S,ENSG00000167978:ENST00000301740:exon11:c.C2118T:p.S706S,ENSG00000167978:ENST00000576924:exon11:c.C2118T:p.S706S Score=352;Name=lod=36 NA 16p13.3 NA NA Name=13 NA rs2240142 0.2 0.2 0.185 0.17492 0.167 0.2589 0.1311 0.2012 0.092 0.16 0.27 0.13 0.21 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 -1.346854 NA NA 0.156744 0.1904 NA 0.123 NA 7.1808226 942 19 39955533 39955533 G A exonic SUPT5H NA synonymous SNV SUPT5H:NM_001130825:exon10:c.G708A:p.E236E,SUPT5H:NM_003169:exon10:c.G720A:p.E240E,SUPT5H:NM_001111020:exon11:c.G720A:p.E240E,SUPT5H:NM_001130824:exon11:c.G720A:p.E240E exonic ENSG00000196235 NA synonymous SNV ENSG00000196235:ENST00000359191:exon9:c.G708A:p.E236E,ENSG00000196235:ENST00000402194:exon10:c.G708A:p.E236E,ENSG00000196235:ENST00000598725:exon10:c.G720A:p.E240E,ENSG00000196235:ENST00000432763:exon11:c.G720A:p.E240E,ENSG00000196235:ENST00000599117:exon12:c.G720A:p.E240E Score=624;Name=lod=460 NA 19q13.2 Score=877;Name=V$YY1_01 NA NA NA rs2304217 0.13 0.13 0.124 0.137181 0.171 0.1111 0.1254 0.1619 0.1043 0.17 0.09 0.11 0.12 0.145 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.05354 NA NA 0.17 0.162279 NA 0.109 NA 7.1806666 942 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 942 13 25009441 25009441 C G exonic PARP4 NA nonsynonymous SNV PARP4:NM_006437:exon31:c.G3838C:p.G1280R exonic ENSG00000102699 NA nonsynonymous SNV ENSG00000102699:ENST00000381989:exon31:c.G3838C:p.G1280R NA NA 13q12.12 NA NA NA NA rs13428 0.39 0.39 0.376 0.385184 0.4125 0.3601 0.3473 0.4849 0.2751 0.42 0.32 0.33 0.46 0.3686 0.47 0.22 T 0.207 B 0.037 B 0.378 U 1.000 P 0.55 N 4.7 T -0.988 T 0.000 T 0.043 -0.018 3.922 -1.34 -0.420 -1.178 5.028 -0.017936 NA 0.34 0.372558 0.471176 ID=COSM147646;OCCURENCE=1(stomach) 0.355 NA 7.1796754 942 1 184677464 184677464 G A exonic EDEM3 NA synonymous SNV EDEM3:NM_025191:exon17:c.C1860T:p.I620I exonic ENSG00000116406 NA synonymous SNV ENSG00000116406:ENST00000439962:exon3:c.C204T:p.I68I,ENSG00000116406:ENST00000318130:exon17:c.C1860T:p.I620I,ENSG00000116406:ENST00000367512:exon17:c.C1731T:p.I577I Score=525;Name=lod=182 Name=Obesity-related traits 1q25.3 NA Name=MafF_(M8194),MafK_(SC-477) NA NA rs3736757 0.6 0.6 0.601 0.651957 0.4761 0.7004 0.5101 0.8525 0.6125 0.47 0.65 0.52 0.81 0.5353 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 1.060098 NA NA 0.475808 0.790967 NA 0.616 NA 7.1794586 942 12 5021228 5021228 T C exonic KCNA1 NA synonymous SNV KCNA1:NM_000217:exon2:c.T684C:p.C228C exonic ENSG00000111262 NA synonymous SNV ENSG00000111262:ENST00000382545:exon2:c.T684C:p.C228C Score=645;Name=lod=558 NA 12p13.32 Score=787;Name=V$HEN1_01 NA NA NA rs1048500 0.53 0.53 0.524 0.489018 0.498 0.631 0.5072 0.4183 0.4162 0.51 0.62 0.53 0.47 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 0.37646 NA NA 0.500698 0.407172 ID=COSM1362235;OCCURENCE=1(large_intestine) 0.558 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Episodic_ataxia_type_1|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000020220.1|RCV000117315.2;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT|.;CLNDSDBID=NBK25442:C1719788:160120:421182009|. 7.1793686 942 5 44809162 44809162 G C exonic MRPS30 NA nonsynonymous SNV MRPS30:NM_016640:exon1:c.G98C:p.C33S exonic ENSG00000112996 NA nonsynonymous SNV ENSG00000112996:ENST00000507110:exon1:c.G98C:p.C33S NA NA 5p12 NA Name=TAF1,ZEB1_(SC-25388),Pol2-4H8,HNF4A,HEY1,KAP1,Pol2,HA-E2F1,TCF12,TAF7_(SQ-8),Pol2(b),TBP,YY1,BAF155,YY1_(C-20),c-Myc,Sin3Ak-20 NA NA rs3747479 0.41 0.41 0.384 0.398562 0.3738 0.5357 0.4553 0.2466 0.4479 0.38 0.53 0.43 0.28 0.413 0.53 0.58 T 0.0 B 0.002 B 0.018 N 1.000 P 0 N 2.35 T -0.923 T 0.000 T 0.009 0.335 5.819 -0.478 0.066 0.300 4.966 0.335379 NA 0.6 0.367265 0.266945 ID=COSM449710,COSM1486797;OCCURENCE=2(breast) 0.304 NA 7.1792684 942 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 942 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 942 17 79526402 79526402 G C exonic NPLOC4 NA synonymous SNV NPLOC4:NM_017921:exon17:c.C1710G:p.G570G exonic ENSG00000182446 NA nonsynonymous SNV ENSG00000182446:ENST00000572760:exon3:c.C104G:p.A35G,ENSG00000182446:ENST00000573876:exon3:c.C104G:p.A35G,ENSG00000182446:ENST00000571714:exon6:c.C482G:p.A161G NA NA 17q25.3 NA Name=c-Myc,CTCF,Pol2 Name=41 NA rs4073997 0.18 0.18 0.162 0.166534 0.2545 0.1052 0.3271 0.0257 0.2157 0.28 0.08 0.33 0.04 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 1.707884 1.707884 NA 0.289247 0.067522 ID=COSM437787;OCCURENCE=1(breast) 0.188 NA 7.177753 942 7 44147485 44147485 C A exonic AEBP1 NA nonsynonymous SNV AEBP1:NM_001129:exon5:c.C817A:p.P273T exonic ENSG00000106624 NA nonsynonymous SNV ENSG00000106624:ENST00000223357:exon5:c.C817A:p.P273T NA NA 7p13 Score=872;Name=V$SPZ1_01 NA NA NA rs2537188 0.32 0.32 0.289 0.357428 0.3519 0.2738 0.2695 0.3684 0.4969 0.37 0.27 0.31 0.3 0.4294 0.37 0.1 T 0.039 B 0.01 B 0.000 N 1.000 P 0.55 N 1.05 T -0.981 T 0.000 T 0.021 0.778 8.109 1.41 0.318 0.387 7.779 0.778353 NA 0.03 0.374325 0.348708 ID=COSM453091;OCCURENCE=1(breast) 0.217 NA 7.1777084 942 2 67632125 67632125 C T exonic ETAA1 NA nonsynonymous SNV ETAA1:NM_019002:exon5:c.C2311T:p.P771S exonic ENSG00000143971 NA nonsynonymous SNV ENSG00000143971:ENST00000272342:exon5:c.C2311T:p.P771S NA NA 2p14 NA NA NA NA rs3770655 0.73 0.73 0.732 0.745807 0.7316 0.5685 0.7233 0.916 0.729 0.73 0.57 0.74 0.92 0.7077 0.92 0.94 T 0.0 B 0.0 B 0.359 N 1.000 P -1.04 N 2.39 T -0.972 T 0.000 T 0.03 -0.957 0.33 -8.29 -1.968 -0.232 0.920 -0.956856 NA 0.82 0.716446 0.892144 ID=COSM148869;OCCURENCE=1(stomach) 0.783 NA 7.1775874 942 1 17314942 17314942 G A exonic ATP13A2 NA synonymous SNV ATP13A2:NM_001141974:exon23:c.C2505T:p.G835G,ATP13A2:NM_001141973:exon24:c.C2622T:p.G874G,ATP13A2:NM_022089:exon24:c.C2637T:p.G879G exonic ENSG00000159363 NA synonymous SNV ENSG00000159363:ENST00000502418:exon3:c.C225T:p.G75G,ENSG00000159363:ENST00000341676:exon23:c.C2505T:p.G835G,ENSG00000159363:ENST00000326735:exon24:c.C2637T:p.G879G,ENSG00000159363:ENST00000452699:exon24:c.C2622T:p.G874G Score=578;Name=lod=299 NA 1p36.13 Score=880;Name=V$ZID_01 NA NA NA rs9435662 0.35 0.35 0.352 0.338658 0.508 0.2599 0.4568 0.1369 0.4346 0.51 0.29 0.44 0.12 0.459 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.226991 NA NA 0.522209 0.20699 NA 0.428 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116435.1;CLNDSDB=.;CLNDSDBID=. 7.1774576 942 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$NFY_C NA NA NA rs17497636 0.1 0.1 0.085 0.113618 0.162 0.0794 0.0965 0.0461 0.2025 0.17 0.05 0.11 0.03 0.1555 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065094 NA NA 0.171773 0.058415 NA 0.072 NA 7.1773936 942 22 19950235 19950235 C T exonic COMT NA synonymous SNV COMT:NM_007310:exon1:c.C36T:p.H12H,COMT:NM_000754:exon3:c.C186T:p.H62H,COMT:NM_001135161:exon3:c.C186T:p.H62H,COMT:NM_001135162:exon3:c.C186T:p.H62H exonic ENSG00000093010 NA synonymous SNV ENSG00000093010:ENST00000449653:exon1:c.C36T:p.H12H,ENSG00000093010:ENST00000207636:exon3:c.C186T:p.H62H,ENSG00000093010:ENST00000361682:exon3:c.C186T:p.H62H,ENSG00000093010:ENST00000403184:exon3:c.C186T:p.H62H,ENSG00000093010:ENST00000403710:exon3:c.C186T:p.H62H,ENSG00000093010:ENST00000406520:exon3:c.C186T:p.H62H,ENSG00000093010:ENST00000412786:exon3:c.C186T:p.H62H,ENSG00000093010:ENST00000407537:exon4:c.C36T:p.H12H NA NA 22q11.21 Score=699;Name=V$PPARG_02 Name=c-Myc,Pol2,SP2_(SC-643),Pol2-4H8,TAF1,HMGN3,HEY1 Name=146 NA rs4633 0.39 0.39 0.38 0.371605 0.499 0.2698 0.3804 0.2935 0.4448 0.52 0.27 0.39 0.33 0.468 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20348 NA NA 0.522907 0.337421 ID=COSM149252;OCCURENCE=1(stomach) 0.399 NA 7.1767596 942 19 1811547 1811547 A G exonic ATP8B3 NA synonymous SNV ATP8B3:NM_001178002:exon2:c.T30C:p.P10P,ATP8B3:NM_138813:exon2:c.T189C:p.P63P exonic ENSG00000130270 NA synonymous SNV ENSG00000130270:ENST00000310127:exon2:c.T189C:p.P63P,ENSG00000130270:ENST00000525591:exon2:c.T30C:p.P10P,ENSG00000130270:ENST00000526092:exon2:c.T30C:p.P10P,ENSG00000130270:ENST00000539485:exon2:c.T189C:p.P63P,ENSG00000130270:ENST00000587160:exon2:c.T189C:p.P63P NA NA 19p13.3 NA Name=Pol2(b),eGFP-FOS,c-Fos,SMC3_(ab9263),JunD,eGFP-JunD,FOSL1_(SC-183),c-Jun,eGFP-JunB,Pol2(phosphoS2),FOSL2,Ini1 Name=102 NA rs12609187 0.84 0.84 0.81 0.829673 0.826 0.7758 0.853 0.9047 0.771 0.82 0.78 0.86 0.93 0.8245 0.93 . . . . . . . . 1.000 P . . . . -1.046 T 0.000 T . 0.39 6.12 1.37 0.142 1.533 4.662 0.390398 NA NA 0.839885 0.896763 NA 0.862 NA 7.1762816 942 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$OLF1_01 NA NA NA rs9605069 0.08 0.08 0.07 0.0830671 0.168 0.004 0.1037 0.0045 0.1687 0.16 0.0035 0.12 0.01 0.1464 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.833604 NA NA 0.176334 0.030234 NA 0.029 NA 7.1759326 942 15 58860963 58860963 C A exonic LIPC NA synonymous SNV LIPC:NM_000236:exon9:c.C1437A:p.T479T exonic ENSG00000166035 NA synonymous SNV ENSG00000166035:ENST00000433326:exon8:c.C1254A:p.T418T,ENSG00000166035:ENST00000299022:exon9:c.C1437A:p.T479T,ENSG00000166035:ENST00000356113:exon11:c.C1437A:p.T479T Score=456;Name=lod=95 NA 15q21.3 Score=895;Name=V$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 942 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 942 4 39207318 39207318 A G exonic WDR19 NA synonymous SNV WDR19:NM_025132:exon9:c.A852G:p.S284S exonic ENSG00000157796 NA synonymous SNV ENSG00000157796:ENST00000288634:exon8:c.A372G:p.S124S,ENSG00000157796:ENST00000399820:exon9:c.A852G:p.S284S,ENSG00000157796:ENST00000506503:exon9:c.A852G:p.S284S Score=565;Name=lod=264 NA 4p14 NA NA Name=10 NA rs17584431 0.11 0.11 0.101 0.123003 0.1551 0.1508 0.1484 0.0053 0.2025 0.15 0.15 0.14 0.0041 0.1864 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.527958 NA NA 0.149451 0.024811 NA 0.181 NA 7.1757156 943 7 158734813 158734813 C T exonic WDR60 NA synonymous SNV WDR60:NM_018051:exon24:c.C2976T:p.V992V exonic ENSG00000126870 NA synonymous SNV ENSG00000126870:ENST00000454771:exon3:c.C366T:p.V122V,ENSG00000126870:ENST00000407559:exon24:c.C2976T:p.V992V Score=358;Name=lod=38 NA 7q36.3 Score=818;Name=V$MIF1_01 NA NA NA rs34634437 0.12 0.12 0.117 0.112819 0.1779 NA 0.1138 0.1808 0.0695 0.17 NA 0.12 0.17 0.1477 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.053155 NA NA 0.166586 0.168616 ID=COSM452806;OCCURENCE=1(breast) 0.087 NA 7.1744806 943 1 171176912 171176912 T G exonic FMO2 NA nonsynonymous SNV FMO2:NM_001460:exon8:c.T1239G:p.N413K exonic ENSG00000094963 NA nonsynonymous SNV ENSG00000094963:ENST00000209929:exon8:c.T1239G:p.N413K,ENSG00000094963:ENST00000441535:exon8:c.T1239G:p.N413K NA NA 1q24.3 NA NA NA NA rs2020865 0.1 0.1 0.107 0.113618 0.0467 0.002 0.0504 0.3343 0.044 0.04 NA 0.05 0.34 0.0631 0.34 1 T 0.0 B 0.001 B 0.064 N 1.000 P -1.355 N 0.41 T -1.004 T 0.009 T 0.014 -1.085 0.158 -1.15 0.140 0.082 1.916 -1.084576 NA 1 0.04907 0.279165 NA 0.087 NA 7.1744634 943 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 943 14 75590822 75590822 G A exonic NEK9 NA synonymous SNV NEK9:NM_033116:exon2:c.C324T:p.H108H exonic ENSG00000119638 NA synonymous SNV ENSG00000119638:ENST00000238616:exon2:c.C324T:p.H108H Score=648;Name=lod=573 NA 14q24.3 NA Name=eGFP-FOS,eGFP-JunD,Pol2-4H8,c-Jun,GATA-2,Pol2 Name=120 NA rs8017642 0.53 0.53 0.516 0.498602 0.504 0.8373 0.611 0.1982 0.4703 0.49 0.81 0.55 0.22 0.5042 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 1.248161 1.248161 NA 0.485349 0.240581 NA 0.464 NA 7.1731176 943 11 13441126 13441126 A G exonic BTBD10 NA synonymous SNV BTBD10:NM_032320:exon4:c.T465C:p.N155N exonic ENSG00000148925 NA synonymous SNV ENSG00000148925:ENST00000528120:exon3:c.T321C:p.N107N,ENSG00000148925:ENST00000530907:exon3:c.T489C:p.N163N,ENSG00000148925:ENST00000278174:exon4:c.T465C:p.N155N,ENSG00000148925:ENST00000527102:exon4:c.T465C:p.N155N Score=529;Name=lod=188 NA 11p15.2 Score=827;Name=V$OCT1_04 NA NA NA rs7114113 0.17 0.17 0.135 0.148163 0.1481 0.1687 0.3012 0.084 0.1053 0.16 0.2 0.26 0.09 0.1717 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.038759 NA NA 0.173847 0.086136 NA 0.116 NA 7.1730196 943 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 943 7 134849577 134849577 A C exonic TMEM140 NA synonymous SNV TMEM140:NM_018295:exon2:c.A384C:p.A128A exonic ENSG00000146859 NA synonymous SNV ENSG00000146859:ENST00000275767:exon2:c.A384C:p.A128A NA NA 7q33 Score=896;Name=V$NF1_Q6 Name=Pol2 Name=24 NA rs2288237 0.42 0.42 0.404 0.455871 0.4821 0.2589 0.4798 0.4009 0.6892 0.5 0.27 0.46 0.43 0.5048 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.105494 NA NA 0.507326 0.438266 NA 0.536 NA 7.1724406 943 X 99661969 99661969 G A exonic PCDH19 NA synonymous SNV PCDH19:NM_001105243:exon1:c.C1627T:p.L543L,PCDH19:NM_001184880:exon1:c.C1627T:p.L543L,PCDH19:NM_020766:exon1:c.C1627T:p.L543L exonic ENSG00000165194 NA synonymous SNV ENSG00000165194:ENST00000255531:exon1:c.C1627T:p.L543L,ENSG00000165194:ENST00000373034:exon1:c.C1627T:p.L543L,ENSG00000165194:ENST00000420881:exon1:c.C1627T:p.L543L Score=454;Name=lod=93 NA Xq22.1 NA NA NA NA rs1953337 0.13 0.13 0.10016 NA NA NA NA NA NA 0.25 0.0023 0.18 0.04 0.2067 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014463 NA NA 0.287579 0.047772 NA 0.138 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079603.1;CLNDSDB=.;CLNDSDBID=. 7.1723876 943 1 216595306 216595306 C T exonic USH2A NA nonsynonymous SNV USH2A:NM_007123:exon2:c.G373A:p.A125T,USH2A:NM_206933:exon2:c.G373A:p.A125T exonic ENSG00000042781 NA nonsynonymous SNV ENSG00000042781:ENST00000307340:exon2:c.G373A:p.A125T,ENSG00000042781:ENST00000366942:exon2:c.G373A:p.A125T,ENSG00000042781:ENST00000366943:exon2:c.G373A:p.A125T NA NA 1q41 NA NA NA NA rs10779261 0.76 0.76 0.77 0.761182 0.7326 0.8125 0.7089 0.764 0.771 0.73 0.8 0.71 0.81 0.7293 0.81 1 T 0.0 B 0.001 B 0.681 N 1.000 P -1.265 N -0.1 T -0.961 T 0.000 T 0.016 0.441 6.393 -1.4 -0.953 0.355 0.874 0.44063 NA 1 0.69907 0.75783 NA 0.754 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041833.1|RCV000126239.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.1723634 943 15 75189930 75189930 A G exonic MPI NA synonymous SNV MPI:NM_002435:exon8:c.A1131G:p.V377V exonic ENSG00000178802 NA synonymous SNV ENSG00000178802:ENST00000562800:exon4:c.A306G:p.V102V,ENSG00000178802:ENST00000323744:exon7:c.A948G:p.V316V,ENSG00000178802:ENST00000535694:exon7:c.A981G:p.V327V,ENSG00000178802:ENST00000352410:exon8:c.A1131G:p.V377V,ENSG00000178802:ENST00000563786:exon8:c.A1071G:p.V357V Score=499;Name=lod=142 NA 15q24.1 NA Name=Pol2 NA NA rs1130741 0.41 0.41 0.353 0.338658 0.5109 0.2292 0.5807 0.289 0.1697 0.51 0.26 0.56 0.32 0.4376 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.978186 NA NA 0.546449 0.324989 NA 0.486 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080011.1;CLNDSDB=.;CLNDSDBID=. 7.1717176 943 12 49308284 49308284 A G exonic CCDC65 NA nonsynonymous SNV CCDC65:NM_033124:exon3:c.A398G:p.H133R exonic ENSG00000139537 NA nonsynonymous SNV ENSG00000139537:ENST00000266984:exon3:c.A398G:p.H133R,ENSG00000139537:ENST00000320516:exon3:c.A398G:p.H133R NA NA 12q13.12 NA NA NA NA rs10747556 0.36 0.36 0.318 0.309904 0.4095 0.4444 0.4971 0.1067 0.2106 0.4 0.46 0.44 0.1 0.3699 0.46 0.53 T 0.0 B 0.0 B 0.430 N 1.000 P -1.04 N 1.64 T -0.903 T 0.000 T 0.031 -1.611 0.013 0.867 -0.378 3.153 11.274 -1.610638 NA 0.69 0.382326 0.161371 NA 0.232 NA 7.1716074 943 19 49001600 49001600 A G exonic LMTK3 NA nonsynonymous SNV LMTK3:NM_001080434:exon12:c.T2813C:p.V938A exonic ENSG00000142235 NA nonsynonymous SNV ENSG00000142235:ENST00000600059:exon11:c.T2726C:p.V909A,ENSG00000142235:ENST00000270238:exon12:c.T2813C:p.V938A NA NA 19q13.33 NA NA NA NA rs61745738 0.08 0.08 0.103 0.100439 0.0527 0.0079 0.0634 0.2398 0.0828 0.05 0.01 0.08 0.22 0.0665 0.22 1 T 0.0 B 0.0 B 0.956 N 1.000 P 0 N -1.23 T -1.112 T 0.000 T 0.021 -2.763 0 -0.006 -0.400 0.353 7.096 -2.762715 NA 0.86 0.043055 0.19927 NA 0.109 NA 7.1710784 943 2 141457985 141457985 T A exonic LRP1B NA synonymous SNV LRP1B:NM_018557:exon41:c.A6633T:p.P2211P exonic ENSG00000168702 NA synonymous SNV ENSG00000168702:ENST00000389484:exon41:c.A6633T:p.P2211P Score=634;Name=lod=505 NA 2q22.1 Score=738;Name=V$SRF_01 NA NA NA rs13431727 0.2 0.2 0.208 0.245008 0.1392 0.0933 0.1873 0.4607 0.2597 0.14 0.08 0.19 0.44 0.1951 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.229723 NA NA 0.161395 0.390604 NA 0.225 NA 7.1709716 943 22 19968971 19968971 G A exonic ARVCF NA nonsynonymous SNV ARVCF:NM_001670:exon5:c.C659T:p.P220L exonic ENSG00000099889 NA nonsynonymous SNV ENSG00000099889:ENST00000344269:exon3:c.C470T:p.P157L,ENSG00000099889:ENST00000401994:exon3:c.C470T:p.P157L,ENSG00000099889:ENST00000406259:exon3:c.C659T:p.P220L,ENSG00000099889:ENST00000406522:exon3:c.C470T:p.P157L,ENSG00000099889:ENST00000263207:exon5:c.C659T:p.P220L NA NA 22q11.21 Score=716;Name=V$NRSF_01 NA NA NA rs2073748 0.33 0.33 0.34 0.360024 0.3439 0.2302 0.3501 0.3858 0.4826 0.35 0.23 0.34 0.38 0.4773 0.4 . . 0.0 B 0.001 B 0.003 N 0.986 P 0.69 N 1.57 T -0.917 T 0.000 T 0.106 0.342 5.855 1.26 0.719 0.843 1.505 0.341913 NA 0.09 0.341268 0.350146 NA 0.442 NA 7.1708654 943 14 78140329 78140329 G A exonic ALKBH1 NA synonymous SNV ALKBH1:NM_006020:exon6:c.C996T:p.S332S exonic ENSG00000100601 NA synonymous SNV ENSG00000100601:ENST00000216489:exon6:c.C996T:p.S332S Score=525;Name=lod=181 NA 14q24.3 Score=689;Name=V$PPARG_02 NA NA NA rs6493 0.11 0.11 0.108 0.0900559 0.1958 0.0169 0.0994 0.0575 0.0941 0.2 0.02 0.11 0.08 0.137 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.325928 1.325928 NA 0.163372 0.081253 NA 0.181 NA 7.1704946 943 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 943 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$RFX1_02 NA NA NA rs2782643 0.26 0.26 0.237 0.198083 0.4205 0.0823 0.379 0.0998 0.093 0.42 0.08 0.41 0.12 0.3191 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.046621 3.046621 NA 0.423656 0.146119 NA 0.333 NA 7.1700774 943 17 21203934 21203934 G A exonic MAP2K3 NA synonymous SNV MAP2K3:NM_002756:exon4:c.G156A:p.V52V,MAP2K3:NM_145109:exon4:c.G243A:p.V81V exonic ENSG00000034152 NA synonymous SNV ENSG00000034152:ENST00000342679:exon4:c.G243A:p.V81V,ENSG00000034152:ENST00000361818:exon4:c.G156A:p.V52V,ENSG00000034152:ENST00000496046:exon4:c.G243A:p.V81V,ENSG00000034152:ENST00000526076:exon4:c.G156A:p.V52V,ENSG00000034152:ENST00000316920:exon5:c.G156A:p.V52V Score=588;Name=lod=327 NA 17p11.2 Score=915;Name=V$HSF1_01 NA NA NA rs62057672 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4966 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.595652 1.595652 NA NA NA NA 0.37 NA 7.1700666 943 17 21203949 21203949 C T exonic MAP2K3 NA synonymous SNV MAP2K3:NM_002756:exon4:c.C171T:p.S57S,MAP2K3:NM_145109:exon4:c.C258T:p.S86S exonic ENSG00000034152 NA synonymous SNV ENSG00000034152:ENST00000342679:exon4:c.C258T:p.S86S,ENSG00000034152:ENST00000361818:exon4:c.C171T:p.S57S,ENSG00000034152:ENST00000496046:exon4:c.C258T:p.S86S,ENSG00000034152:ENST00000526076:exon4:c.C171T:p.S57S,ENSG00000034152:ENST00000316920:exon5:c.C171T:p.S57S Score=588;Name=lod=327 NA 17p11.2 Score=766;Name=V$YY1_02 NA NA NA rs62057673 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.497 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.533405 1.533405 NA NA NA NA 0.37 NA 7.1696666 943 1 17313343 17313343 G A exonic ATP13A2 NA synonymous SNV ATP13A2:NM_001141974:exon26:c.C3060T:p.A1020A,ATP13A2:NM_001141973:exon27:c.C3177T:p.A1059A,ATP13A2:NM_022089:exon27:c.C3192T:p.A1064A exonic ENSG00000159363 NA synonymous SNV ENSG00000159363:ENST00000502418:exon6:c.C780T:p.A260A,ENSG00000159363:ENST00000341676:exon26:c.C3060T:p.A1020A,ENSG00000159363:ENST00000326735:exon27:c.C3192T:p.A1064A,ENSG00000159363:ENST00000452699:exon27:c.C3177T:p.A1059A NA NA 1p36.13 Score=880;Name=V$AP4_01 Name=CTCF_(SC-5916) NA NA rs9435659 0.36 0.36 0.346 0.338458 0.5089 0.2599 0.4568 0.1369 0.4325 0.51 0.3 0.44 0.12 0.4648 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.890069 NA NA 0.523372 0.207671 NA 0.42 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116442.1;CLNDSDB=.;CLNDSDBID=. 7.1695946 943 13 111806245 111806245 A G UTR5 ARHGEF7 NM_003899:c.-63784A>G NA NA UTR5 ENSG00000102606 ENST00000218789:c.-63784A>G,ENST00000375736:c.-63784A>G NA NA Score=534;Name=lod=198 NA 13q34 Score=791;Name=V$AHRARNT_02 Name=Pol2,CTCF,NFKB,Pol2-4H8 Name=147 NA rs61966721 0.44 0.44 0.414 0.451478 0.3817 0.6796 0.3242 0.3729 0.4847 0.39 0.65 0.35 0.33 0.4176 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.714884 NA NA 0.364472 0.346206 NA 0.348 NA 7.1695614 943 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 943 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 943 1 158687163 158687163 G A exonic OR6K3 NA nonsynonymous SNV OR6K3:NM_001005327:exon1:c.C743T:p.P248L exonic ENSG00000203757 NA nonsynonymous SNV ENSG00000203757:ENST00000368145:exon1:c.C743T:p.P248L,ENSG00000203757:ENST00000368146:exon1:c.C791T:p.P264L NA NA 1q23.1 NA NA NA NA rs28568406 0.42 0.42 0.388 0.388978 0.3966 0.4474 0.4323 0.4773 0.1708 0.39 0.42 0.42 0.46 0.3888 0.48 0.83 T 0.001 B 0.0 B . . 1.000 P -2.74 N 1.43 T -0.941 T 0.004 T 0.069 -0.584 1.38 3.77 0.606 0.037 8.466 -0.583678 NA 1 0.378605 0.475715 NA 0.355 NA 7.1693284 943 17 31618732 31618732 A G exonic ASIC2 NA synonymous SNV ASIC2:NM_183377:exon1:c.T402C:p.T134T exonic ENSG00000108684 NA synonymous SNV ENSG00000108684:ENST00000225823:exon1:c.T402C:p.T134T Score=759;Name=lod=1616 NA 17q11.2 NA Name=CTCF Name=66 NA rs9893935 0.59 0.59 0.545 0.559904 0.4851 0.7649 0.5922 0.5673 0.3926 0.49 0.75 0.59 0.56 0.5165 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 0.981217 NA NA 0.495907 0.554587 ID=COSM436361;OCCURENCE=2(breast) 0.145 NA 7.1691596 943 19 10450285 10450285 G A exonic ICAM3 NA synonymous SNV ICAM3:NM_002162:exon1:c.C6T:p.A2A exonic ENSG00000076662 NA synonymous SNV ENSG00000076662:ENST00000160262:exon1:c.C6T:p.A2A,ENSG00000076662:ENST00000585439:exon1:c.C6T:p.A2A NA NA 19p13.2 NA Name=PAX5-C20,TBP,PAX5-N19,PU.1,YY1,Pol2,NFKB,ZEB1_(SC-25388),Pol2-4H8,EBF1_(C-8) Name=17 NA rs281414 0.16 0.16 0.157 0.151558 0.166 0.0744 0.121 0.2632 0.0869 0.16 0.08 0.14 0.27 0.158 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.62951 NA NA 0.17407 0.231729 NA 0.196 NA 7.1685966 943 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 943 15 51914662 51914662 G A exonic DMXL2 NA synonymous SNV DMXL2:NM_001174116:exon1:c.C81T:p.P27P,DMXL2:NM_001174117:exon1:c.C81T:p.P27P,DMXL2:NM_015263:exon1:c.C81T:p.P27P exonic ENSG00000104093 NA synonymous SNV ENSG00000104093:ENST00000251076:exon1:c.C81T:p.P27P,ENSG00000104093:ENST00000449909:exon1:c.C81T:p.P27P,ENSG00000104093:ENST00000543779:exon1:c.C81T:p.P27P Score=635;Name=lod=509 NA 15q21.2 NA Name=Pbx3,E2F6,Egr-1 Name=6 NA rs2278990 0.44 0.44 0.402 0.411542 0.5149 0.3333 0.4856 0.3616 0.4008 0.52 0.37 0.47 0.38 0.4998 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.688255 1.688255 NA 0.484159 0.368856 NA 0.348 NA 7.1678076 943 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 943 12 94243853 94243853 C T exonic CRADD NA synonymous SNV CRADD:NM_003805:exon3:c.C406T:p.L136L exonic ENSG00000169372 NA synonymous SNV ENSG00000169372:ENST00000332896:exon3:c.C406T:p.L136L,ENSG00000169372:ENST00000542893:exon3:c.C406T:p.L136L Score=419;Name=lod=67 NA 12q22 Score=738;Name=V$NRSF_01 NA NA NA rs56944668 0.24 0.24 0.213 0.227236 0.1551 0.4911 0.1686 0.1059 0.2352 0.15 0.48 0.22 0.09 0.1867 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.628844 NA NA 0.157791 0.121879 ID=COSM298256;OCCURENCE=1(large_intestine) 0.232 NA 7.1670756 943 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$GATA1_01 NA NA NA rs1657688 0.5 0.5 NA NA NA NA NA NA NA 0.5 0.5 0.5 0.5 0.4999 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.778914 NA NA NA NA ID=COSM291821;OCCURENCE=1(large_intestine) 0.5 NA 7.1667666 943 20 31656632 31656632 C G exonic BPIFB3 NA nonsynonymous SNV BPIFB3:NM_182658:exon10:c.C1002G:p.H334Q exonic ENSG00000186190 NA nonsynonymous SNV ENSG00000186190:ENST00000375494:exon10:c.C1002G:p.H334Q NA NA 20q11.21 NA NA NA NA rs6057717 0.48 0.48 0.464 0.482029 0.3837 0.7698 0.4741 0.3086 0.5266 0.38 0.77 0.44 0.33 0.4197 0.77 0.58 T 0.155 B 0.107 B 0.087 N 1.000 P 0.69 N 3.12 T -1.005 T 0.000 T 0.047 -0.364 2.285 2.26 0.519 0.094 6.123 -0.363791 NA 0.2 0.363256 0.296641 ID=COSM443651;OCCURENCE=1(breast) 0.42 NA 7.1666774 943 6 57244780 57244780 G A exonic PRIM2 NA unknown UNKNOWN exonic ENSG00000146143 NA nonsynonymous SNV ENSG00000146143:ENST00000607273:exon6:c.G541A:p.E181K Score=395;Name=lod=54 NA 6p11.2 Score=766;Name=V$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 943 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 943 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=Pol2,ZNF274,SUZ12,TBP,CtBP2,CCNT2,ZNF263 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 943 8 110301998 110301998 T C exonic NUDCD1 NA nonsynonymous SNV NUDCD1:NM_001128211:exon5:c.A718G:p.I240V,NUDCD1:NM_032869:exon5:c.A805G:p.I269V exonic ENSG00000120526 NA nonsynonymous SNV ENSG00000120526:ENST00000239690:exon5:c.A805G:p.I269V,ENSG00000120526:ENST00000427660:exon5:c.A718G:p.I240V NA NA 8q23.1 NA NA NA NA rs2980618 0.38 0.38 0.343 0.379593 0.3569 0.4603 0.4914 0.177 0.5143 0.38 0.49 0.46 0.18 0.4155 0.49 0.28 T 0.0 B 0.001 B 0.001 D 1.000 P 0 N 2.37 T -0.921 T 0.000 T 0.022 -0.316 2.496 1.55 0.388 0.454 5.01 -0.316379 NA 1 0.394884 0.228325 NA 0.312 NA 7.1660494 943 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 944 8 118847782 118847782 G A exonic EXT1 NA synonymous SNV EXT1:NM_000127:exon3:c.C1065T:p.C355C exonic ENSG00000182197 NA nonsynonymous SNV ENSG00000182197:ENST00000437196:exon2:c.C82T:p.R28C Score=700;Name=lod=932 NA 8q24.11 NA NA NA NA rs11546829 0.19 0.19 0.172 0.173922 0.2684 0.0853 0.3069 0.0908 0.1861 0.28 0.09 0.31 0.09 0.2596 0.31 . . . . . . . . 0.000 P . . . . -1.015 T 0.000 T . 1.357 10.46 1.38 0.002 0.094 10.383 1.356943 1.356943 0 0.307442 0.126192 ID=COSM150522;OCCURENCE=1(stomach) 0.174 NA 7.164558 944 9 112963702 112963702 G A exonic C9orf152 NA synonymous SNV C9orf152:NM_001012993:exon2:c.C246T:p.N82N exonic ENSG00000188959 NA synonymous SNV ENSG00000188959:ENST00000400613:exon2:c.C246T:p.N82N Score=426;Name=lod=72 NA 9q31.3 Score=869;Name=V$COMP1_01 NA NA NA rs4978888 0.21 0.21 0.209 0.218051 0.167 0.126 0.1744 0.3517 0.2157 0.18 0.14 0.17 0.35 0.1829 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316671 NA NA 0.152209 0.306854 NA 0.167 NA 7.1645576 944 5 108281909 108281909 C G exonic FER NA nonsynonymous SNV FER:NM_005246:exon11:c.C1315G:p.L439V exonic ENSG00000151422 NA nonsynonymous SNV ENSG00000151422:ENST00000438717:exon7:c.C790G:p.L264V,ENSG00000151422:ENST00000281092:exon11:c.C1315G:p.L439V NA NA 5q21.3 NA NA NA NA rs2229086 0.05 0.05 0.037 0.058107 0.0537 0.0863 0.0259 0.0045 0.1288 0.06 0.08 0.03 0.01 0.0592 0.08 0.7 T 0.321 B 0.03 B 0.007 N 0.000 P 1.825 L -0.99 T -0.983 T 0.019 T 0.066 -0.941 0.358 0.156 0.022 -0.134 4.882 -0.941189 NA 0.03 0.056047 0.009537 NA 0.043 NA 7.1643864 944 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 944 20 36952342 36952342 C T exonic BPI NA nonsynonymous SNV BPI:NM_001725:exon8:c.C839T:p.A280V exonic ENSG00000101425 NA nonsynonymous SNV ENSG00000101425:ENST00000262865:exon8:c.C839T:p.A280V NA NA 20q11.23 NA NA NA NA rs5741804 0.13 0.13 0.112 0.146765 0.0388 0.2183 0.1182 0.2194 0.1063 0.04 0.18 0.09 0.23 0.0868 0.23 0.08 T 0.005 B 0.003 B 0.256 N 1.000 P 0.895 L 2.97 T -0.994 T 0.000 T 0.165 1.509 11 -0.992 -0.320 0.514 5.963 1.509206 1.509206 0.05 0.045116 0.20404 NA 0.116 NA 7.1626174 944 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 944 22 50468907 50468907 C T intergenic IL17REL,MLC1 dist=17852;dist=28913 NA NA exonic ENSG00000138892 NA nonsynonymous SNV ENSG00000138892:ENST00000440475:exon11:c.G2095A:p.G699S,ENSG00000138892:ENST00000266182:exon12:c.G2155A:p.G719S,ENSG00000138892:ENST00000433387:exon12:c.G2203A:p.G735S NA NA 22q13.33 NA Name=E2F6_(H-50),CTCF,USF-1,Znf143_(16618-1-AP),CTCF_(C-20),CTCF_(SC-5916),GABP,PAX5-C20,YY1_(C-20),Max,Nrf1,Rad21,SMC3_(ab9263),AP-2gamma,ZBTB7A_(SC-34508) Name=128 NA rs738333 0.49 0.49 0.448 0.340655 0.339 0.2093 0.4078 0.438 0.2986 0.54 0.22 0.51 0.71 0.3335 0.71 1 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 3.83 T -0.952 T 0.000 T 0.152 -1.124 0.123 -0.575 -0.449 -0.844 0.688 -1.123698 NA 0.83 NA NA NA 0.072 NA 7.1608334 944 14 51204996 51204996 C T exonic NIN NA synonymous SNV NIN:NM_016350:exon26:c.G3498A:p.Q1166Q,NIN:NM_020921:exon27:c.G5637A:p.Q1879Q,NIN:NM_182944:exon27:c.G5637A:p.Q1879Q,NIN:NM_182946:exon27:c.G5637A:p.Q1879Q exonic ENSG00000100503 NA synonymous SNV ENSG00000100503:ENST00000485005:exon2:c.G90A:p.Q30Q,ENSG00000100503:ENST00000382043:exon25:c.G3498A:p.Q1166Q,ENSG00000100503:ENST00000530997:exon25:c.G5637A:p.Q1879Q,ENSG00000100503:ENST00000389868:exon26:c.G3498A:p.Q1166Q,ENSG00000100503:ENST00000245441:exon27:c.G5637A:p.Q1879Q,ENSG00000100503:ENST00000324330:exon27:c.G5637A:p.Q1879Q,ENSG00000100503:ENST00000382041:exon27:c.G5637A:p.Q1879Q,ENSG00000100503:ENST00000453196:exon27:c.G5637A:p.Q1879Q,ENSG00000100503:ENST00000476352:exon27:c.G5637A:p.Q1879Q NA NA 14q22.1 NA NA NA NA rs11376 0.5 0.5 0.51 0.508786 0.4851 0.3155 0.4092 0.7375 0.4939 0.49 0.33 0.43 0.78 0.5044 0.78 . . . . . . . . 0.062 P . . . . -1.102 T 0.000 T . -0.34 2.392 -11.4 -3.046 -0.727 15.254 -0.33967 NA NA 0.517326 0.696096 NA 0.674 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117813.2;CLNDSDB=.;CLNDSDBID=. 7.1598406 944 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 944 6 169632219 169632219 G A exonic THBS2 NA synonymous SNV THBS2:NM_003247:exon14:c.C2007T:p.G669G exonic ENSG00000186340 NA synonymous SNV ENSG00000186340:ENST00000366787:exon14:c.C2007T:p.G669G Score=578;Name=lod=297 NA 6q27 Score=891;Name=V$AREB6_01 NA NA NA rs35935937 0.2 0.2 0.177 0.191693 0.17 0.2679 0.2161 0.1218 0.2127 0.18 0.27 0.21 0.15 0.1814 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.303005 1.303005 NA 0.156628 0.122106 ID=COSM150223;OCCURENCE=1(stomach) 0.138 NA 7.1586386 944 19 4101062 4101062 G T exonic MAP2K2 NA synonymous SNV MAP2K2:NM_030662:exon6:c.C660A:p.I220I exonic ENSG00000126934 NA synonymous SNV ENSG00000126934:ENST00000262948:exon6:c.C660A:p.I220I,ENSG00000126934:ENST00000394867:exon7:c.C369A:p.I123I Score=657;Name=lod=626 NA 19p13.3 Score=868;Name=V$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 944 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 944 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 944 5 140216042 140216042 G A exonic PCDHA7 NA nonsynonymous SNV PCDHA7:NM_018910:exon1:c.G2074A:p.E692K,PCDHA7:NM_031852:exon1:c.G2074A:p.E692K exonic ENSG00000204963 NA nonsynonymous SNV ENSG00000204963:ENST00000378125:exon1:c.G2074A:p.E692K,ENSG00000204963:ENST00000525929:exon1:c.G2074A:p.E692K NA NA 5q31.3 NA NA NA NA rs61730623 0.04 0.04 0.04 0.0229633 0.0765 NA 0.0403 0.0015 0.0082 0.09 NA 0.06 0.01 0.0426 0.09 0.39 T 0.001 B 0.003 B 0.008 U 1.000 P 0 N 0.69 T -1.063 T 0.003 T 0.058 0.91 8.704 0.65 -0.011 0.923 7.960 0.910424 NA 0.05 0.056641 0.013845 NA 0.014 NA 7.1575924 944 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 944 8 18729529 18729529 C G exonic PSD3 NA nonsynonymous SNV PSD3:NM_015310:exon3:c.G845C:p.G282A exonic ENSG00000156011 NA nonsynonymous SNV ENSG00000156011:ENST00000523619:exon2:c.G650C:p.G217A,ENSG00000156011:ENST00000327040:exon3:c.G845C:p.G282A,ENSG00000156011:ENST00000440756:exon3:c.G845C:p.G282A NA NA 8p22 NA NA NA NA rs78452893 0.06 0.06 0.04 0.0742812 0.0517 0.001 0.1009 0.1082 0.1084 0.05 NA 0.09 0.11 0.0684 0.11 0.65 T 0.088 B 0.034 B 0.647 N 1.000 N 0.55 N 1.59 T -1.000 T 0.001 T 0.083 -1.155 0.099 1.83 0.309 0.013 3.858 -1.15451 NA 0.04 0.055663 0.09128 NA 0.029 NA 7.1575704 944 4 80905990 80905990 C G exonic ANTXR2 NA nonsynonymous SNV ANTXR2:NM_001145794:exon13:c.G1069C:p.A357P,ANTXR2:NM_058172:exon13:c.G1069C:p.A357P exonic ENSG00000163297 NA nonsynonymous SNV ENSG00000163297:ENST00000346652:exon9:c.G760C:p.A254P,ENSG00000163297:ENST00000307333:exon13:c.G1069C:p.A357P,ENSG00000163297:ENST00000403729:exon13:c.G1069C:p.A357P,ENSG00000163297:ENST00000404191:exon13:c.G838C:p.A280P NA NA 4q21.21 NA NA NA NA rs12647691 0.78 0.78 0.745 0.802716 0.6988 0.9613 0.8213 0.7209 0.8436 0.68 0.96 0.81 0.71 0.7699 0.96 1 T 0.0 B 0.0 B 0.000 N 0.000 P -1.355 N 2.63 T -0.974 T 0.000 T 0.054 -2.438 0.003 2.85 0.287 2.241 6.124 -2.438432 NA 1 0.707359 0.716555 NA 0.587 NA 7.1572744 944 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 945 1 227504794 227504794 T C exonic CDC42BPA NA synonymous SNV CDC42BPA:NM_003607:exon1:c.A90G:p.T30T,CDC42BPA:NM_014826:exon1:c.A90G:p.T30T exonic ENSG00000143776 NA synonymous SNV ENSG00000143776:ENST00000334218:exon1:c.A90G:p.T30T,ENSG00000143776:ENST00000366764:exon1:c.A90G:p.T30T,ENSG00000143776:ENST00000366765:exon1:c.A90G:p.T30T,ENSG00000143776:ENST00000366766:exon1:c.A90G:p.T30T,ENSG00000143776:ENST00000366767:exon1:c.A90G:p.T30T,ENSG00000143776:ENST00000366769:exon1:c.A90G:p.T30T,ENSG00000143776:ENST00000535525:exon1:c.A90G:p.T30T NA NA 1q42.13 Score=902;Name=V$CEBP_01 NA Name=42 NA rs11804613 0.28 0.28 0.257 0.271166 0.1521 0.3363 0.2954 0.3411 0.2147 0.16 0.38 0.27 0.34 0.2172 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.724556 NA NA 0.142907 0.299138 NA 0.268 NA 7.1544596 945 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 945 17 27424316 27424316 G A exonic MYO18A NA synonymous SNV MYO18A:NM_078471:exon27:c.C4155T:p.T1385T,MYO18A:NM_203318:exon27:c.C4155T:p.T1385T exonic ENSG00000196535 NA synonymous SNV ENSG00000196535:ENST00000354329:exon26:c.C4155T:p.T1385T,ENSG00000196535:ENST00000527372:exon27:c.C4155T:p.T1385T,ENSG00000196535:ENST00000531253:exon27:c.C4155T:p.T1385T,ENSG00000196535:ENST00000533112:exon27:c.C4155T:p.T1385T Score=658;Name=lod=630 NA 17q11.2 Score=855;Name=V$CREB_02 NA NA NA rs8067806 0.26 0.26 0.281 0.263578 0.167 0.5833 0.1571 0.1755 0.228 0.16 0.54 0.17 0.17 0.1919 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.462137 1.462137 NA 0.154213 0.173955 NA 0.326 NA 7.1535536 945 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 945 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 945 8 55542540 55542540 G A exonic RP1 NA nonsynonymous SNV RP1:NM_006269:exon4:c.G6098A:p.C2033Y exonic ENSG00000104237 NA nonsynonymous SNV ENSG00000104237:ENST00000220676:exon4:c.G6098A:p.C2033Y NA NA 8q12.1 NA NA NA NA rs61739567 0.24 0.24 0.212 0.215655 0.4264 0.0675 0.245 0.0696 0.3282 0.43 0.08 0.29 0.08 0.3381 0.43 1 T 0.002 B 0.001 B 0.206 N 1.000 P 0.84 L 2.18 T -0.920 T 0.000 T 0.15 -3.521 0.001 0.404 0.153 -0.012 0.701 -3.520656 NA 0.56 0.41593 0.117166 NA 0.268 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081376.1;CLNDSDB=.;CLNDSDBID=. 7.1529034 945 17 27889963 27889963 C G exonic ABHD15 NA synonymous SNV ABHD15:NM_198147:exon2:c.G1023C:p.P341P exonic ENSG00000168792 NA synonymous SNV ENSG00000168792:ENST00000307201:exon2:c.G1023C:p.P341P Score=483;Name=lod=123 NA 17q11.2 Score=767;Name=V$STAT1_01 NA NA NA rs721479 0.22 0.22 0.232 0.222843 0.1759 0.2044 0.1354 0.3631 0.1626 0.18 0.21 0.15 0.36 0.1723 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.046557 NA NA 0.165698 0.335679 NA 0.181 NA 7.1527686 945 3 150128154 150128154 T C exonic TSC22D2 NA synonymous SNV TSC22D2:NM_014779:exon1:c.T1017C:p.P339P exonic ENSG00000196428 NA synonymous SNV ENSG00000196428:ENST00000361136:exon1:c.T1017C:p.P339P,ENSG00000196428:ENST00000361875:exon1:c.T1017C:p.P339P NA NA 3q25.1 NA Name=TAF1,HA-E2F1,Pol2,YY1,AP-2gamma,Mxi1_(bHLH) Name=4 NA rs61734437 0.1 0.1 0.098 0.0848642 0.174 0.0317 0.0879 0.0408 0.1053 0.17 0.05 0.09 0.04 0.1883 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180954 NA NA 0.151758 0.051733 ID=COSM1419887;OCCURENCE=1(large_intestine) 0.036 NA 7.1526086 945 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 945 19 18499151 18499151 C T exonic GDF15 NA synonymous SNV GDF15:NM_004864:exon2:c.C333T:p.P111P exonic ENSG00000130513 NA synonymous SNV ENSG00000130513:ENST00000252809:exon2:c.C333T:p.P111P,ENSG00000130513:ENST00000595973:exon3:c.C333T:p.P111P NA NA 19p13.11 NA Name=Pol2,STAT1 Name=9 NA rs1059022 0.18 0.18 0.165 0.172324 0.175 0.0069 0.1556 0.3601 0.0982 0.19 0.01 0.17 0.37 0.1657 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.573011 1.573011 NA 0.174883 0.325207 ID=COSM438970;OCCURENCE=1(breast) 0.283 NA 7.1510836 945 8 146067054 146067054 G A exonic ZNF7 NA nonsynonymous SNV ZNF7:NM_003416:exon5:c.G562A:p.G188R exonic ENSG00000147789 NA nonsynonymous SNV ENSG00000147789:ENST00000544249:exon4:c.G274A:p.G92R,ENSG00000147789:ENST00000325241:exon5:c.G562A:p.G188R,ENSG00000147789:ENST00000446747:exon5:c.G595A:p.G199R,ENSG00000147789:ENST00000528372:exon5:c.G562A:p.G188R,ENSG00000147789:ENST00000532777:exon5:c.G562A:p.G188R NA NA 8q24.3 NA NA NA NA rs1735169 0.5 0.5 0.496 0.53115 0.3579 0.5833 0.4294 0.6906 0.5123 0.36 0.54 0.44 0.69 0.4417 0.69 0.21 T 0.0 B 0.0 B 0.459 N 1.000 P -0.81 N 7.32 T -1.064 T 0.000 T 0.367 -0.979 0.293 3.6 0.401 -0.088 5.026 -0.979022 NA 0.71 0.382674 0.667045 NA 0.384 NA 7.1510594 945 14 103566904 103566904 G A exonic EXOC3L4 NA synonymous SNV EXOC3L4:NM_001077594:exon1:c.G348A:p.Q116Q exonic ENSG00000205436 NA synonymous SNV ENSG00000205436:ENST00000380069:exon1:c.G348A:p.Q116Q,ENSG00000205436:ENST00000559116:exon1:c.G240A:p.Q80Q NA NA 14q32.32 NA Name=PU.1,Pol2,HEY1,IRF4_(M-17),EBF1_(C-8) Name=13 NA rs1057640 0.23 0.23 0.191 0.203075 0.1531 0.3433 0.3055 0.0787 0.2055 0.16 0.36 0.33 0.1 0.2116 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184729 NA NA 0.151628 0.082615 NA 0.174 NA 7.1503386 945 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 945 1 232941677 232941677 G T exonic MAP10 NA nonsynonymous SNV MAP10:NM_019090:exon1:c.G908T:p.R303L exonic ENSG00000212916 NA nonsynonymous SNV ENSG00000212916:ENST00000418460:exon1:c.G908T:p.R303L NA NA 1q42.2 NA NA NA NA rs3766497 0.11 0.11 0.099 0.134385 0.0517 0.1369 0.085 0.2504 0.0951 0.05 0.12 0.08 0.21 0.0879 0.21 0.32 T 0.011 B 0.006 B 0.805 U 1.000 P 0.205 N . . -1.009 T 0.000 T 0.073 2.012 12.69 0.452 0.288 -0.256 4.239 2.012307 2.012307 0.33 0.043765 0.20324 NA 0.101 NA 7.1499684 945 19 18497137 18497137 G A exonic GDF15 NA synonymous SNV GDF15:NM_004864:exon1:c.G138A:p.L46L exonic ENSG00000130513 NA synonymous SNV ENSG00000130513:ENST00000252809:exon1:c.G138A:p.L46L,ENSG00000130513:ENST00000595973:exon2:c.G138A:p.L46L NA NA 19p13.11 NA Name=Pol2,CHD2_(N-1250),TAF7_(SQ-8),HDAC2_(SC-6296),Ini1,CTCF,E2F6_(H-50),E2F6,TAF1,CTCF_(C-20),HMGN3,GABP,CTCF_(SC-5916),Pol2-4H8,ETS1,NELFe,HEY1,BCLAF1_(M33-P5B11),YY1_(C-20),Max,TAL1_(SC-12984),Rad21,E2F4,eGFP-JunD,Sin3Ak-20,NRSF,Pol2(b),ZBTB7A_(SC-34508),CEBPB,BAF155,SMC3_(ab9263),CTCFL_(SC-98982) Name=142 NA rs6413435 0.12 0.12 0.096 0.103035 0.1829 0.0069 0.1383 0.0983 0.1012 0.2 0.01 0.15 0.11 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 1.229475 NA NA 0.185698 0.103495 NA 0.188 NA 7.1493686 945 15 51914716 51914716 T C exonic DMXL2 NA synonymous SNV DMXL2:NM_001174116:exon1:c.A27G:p.G9G,DMXL2:NM_001174117:exon1:c.A27G:p.G9G,DMXL2:NM_015263:exon1:c.A27G:p.G9G exonic ENSG00000104093 NA synonymous SNV ENSG00000104093:ENST00000251076:exon1:c.A27G:p.G9G,ENSG00000104093:ENST00000449909:exon1:c.A27G:p.G9G,ENSG00000104093:ENST00000543779:exon1:c.A27G:p.G9G Score=635;Name=lod=509 NA 15q21.2 NA Name=E2F6,Pbx3 Name=6 NA rs2278989 0.44 0.44 0.418 0.412141 0.5169 0.3333 0.4856 0.3623 0.4008 0.52 0.37 0.47 0.38 0.5078 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.953214 1.953214 NA 0.492613 0.375401 NA 0.348 NA 7.1493536 945 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 945 7 55214348 55214348 C T exonic EGFR NA synonymous SNV EGFR:NM_005228:exon4:c.C474T:p.N158N,EGFR:NM_201282:exon4:c.C474T:p.N158N,EGFR:NM_201283:exon4:c.C474T:p.N158N,EGFR:NM_201284:exon4:c.C474T:p.N158N exonic ENSG00000146648 NA synonymous SNV ENSG00000146648:ENST00000275493:exon4:c.C474T:p.N158N,ENSG00000146648:ENST00000342916:exon4:c.C474T:p.N158N,ENSG00000146648:ENST00000344576:exon4:c.C474T:p.N158N,ENSG00000146648:ENST00000420316:exon4:c.C474T:p.N158N,ENSG00000146648:ENST00000442591:exon4:c.C474T:p.N158N,ENSG00000146648:ENST00000450046:exon4:c.C315T:p.N105N,ENSG00000146648:ENST00000454757:exon4:c.C315T:p.N105N Score=403;Name=lod=58 NA 7p11.2 NA NA NA NA rs2072454 0.45 0.45 0.475 0.475439 0.4841 0.3522 0.4928 0.4932 0.5573 0.5 0.37 0.47 0.47 0.509 0.53 . . . . . . . . 0.000 P . . . . . . . . . 0.815 8.281 1.99 0.544 1.216 8.757 0.815468 NA NA 0.525233 0.495461 ID=COSM1451542,COSM42978;OCCURENCE=2(large_intestine),1(central_nervous_system) 0.551 NA 7.1483336 945 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 945 11 60785263 60785263 A G exonic CD6 NA nonsynonymous SNV CD6:NM_001254750:exon10:c.A1519G:p.T507A,CD6:NM_001254751:exon10:c.A1492G:p.T498A,CD6:NM_006725:exon11:c.A1615G:p.T539A exonic ENSG00000013725 NA nonsynonymous SNV ENSG00000013725:ENST00000346437:exon9:c.A1396G:p.T466A,ENSG00000013725:ENST00000433107:exon9:c.A1216G:p.T406A,ENSG00000013725:ENST00000344028:exon10:c.A1519G:p.T507A,ENSG00000013725:ENST00000352009:exon10:c.A1519G:p.T507A,ENSG00000013725:ENST00000452451:exon10:c.A1492G:p.T498A,ENSG00000013725:ENST00000313421:exon11:c.A1615G:p.T539A NA NA 11q12.2 NA NA NA NA rs61755080 0.03 0.03 0.025 0.028754 0.0646 0.001 0.0274 0.0038 0.0552 0.07 NA 0.03 0.0041 0.0546 0.07 1 T 0.0 B 0.001 B 0.037 N 1.000 N -0.69 N 5.39 T -0.948 T 0.000 T 0.243 -0.021 3.908 -0.449 0.036 0.041 6.763 -0.020574 NA 0.43 0.066876 0.011575 NA 0.029 NA 7.1472574 945 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 945 11 6636106 6636106 T A exonic TPP1 NA synonymous SNV TPP1:NM_000391:exon12:c.A1542T:p.G514G exonic ENSG00000166340 NA synonymous SNV ENSG00000166340:ENST00000533371:exon11:c.A813T:p.G271G,ENSG00000166340:ENST00000299427:exon12:c.A1542T:p.G514G Score=435;Name=lod=78 NA 11p15.4 NA NA NA NA rs1128396 0.23 0.23 0.231 0.23123 0.161 0.3512 0.2075 0.23 0.1984 0.16 0.36 0.2 0.22 0.1933 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.092035 NA NA 0.16655 0.222172 NA 0.275 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118652.2;CLNDSDB=.;CLNDSDBID=. 7.1458166 946 7 158672619 158672619 A G exonic WDR60 NA nonsynonymous SNV WDR60:NM_018051:exon5:c.A818G:p.Q273R exonic ENSG00000126870 NA nonsynonymous SNV ENSG00000126870:ENST00000444851:exon1:c.A149G:p.Q50R,ENSG00000126870:ENST00000407559:exon5:c.A818G:p.Q273R NA NA 7q36.3 Score=885;Name=V$E2F_02 NA NA NA rs2788478 0.55 0.55 0.547 0.573682 0.3837 0.7212 0.4294 0.7368 0.499 0.38 0.69 0.43 0.72 0.441 0.72 1 T 0.0 B 0.0 B 0.429 N 1.000 P -0.55 N 2.24 T -0.973 T 0.000 T 0.047 -1.322 0.033 0.795 -0.043 0.042 5.015 -1.322301 NA 0.98 0.366699 0.653316 NA 0.536 NA 7.1419344 946 19 15760053 15760053 G A exonic CYP4F3 NA synonymous SNV CYP4F3:NM_000896:exon6:c.G609A:p.L203L,CYP4F3:NM_001199208:exon6:c.G609A:p.L203L,CYP4F3:NM_001199209:exon6:c.G609A:p.L203L exonic ENSG00000186529 NA synonymous SNV ENSG00000186529:ENST00000585846:exon5:c.G609A:p.L203L,ENSG00000186529:ENST00000221307:exon6:c.G609A:p.L203L,ENSG00000186529:ENST00000586182:exon6:c.G609A:p.L203L,ENSG00000186529:ENST00000591058:exon6:c.G609A:p.L203L Score=566;Name=lod=266 NA 19p13.12 Score=764;Name=V$PPARG_01 NA NA NA rs1053037 0.11 0.11 0.105 0.086262 0.2028 0.0397 0.1225 0.0234 0.0736 0.18 0.04 0.15 0.03 0.1373 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.010421 NA NA 0.184651 0.041761 NA 0.152 NA 7.1419156 946 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 946 22 44282276 44282276 A G exonic PNPLA5 NA nonsynonymous SNV PNPLA5:NM_001177675:exon4:c.T514C:p.W172R,PNPLA5:NM_138814:exon6:c.T856C:p.W286R exonic ENSG00000100341 NA nonsynonymous SNV ENSG00000100341:ENST00000381198:exon4:c.T514C:p.W172R,ENSG00000100341:ENST00000438734:exon4:c.T580C:p.W194R,ENSG00000100341:ENST00000593866:exon4:c.T514C:p.W172R,ENSG00000100341:ENST00000216177:exon6:c.T856C:p.W286R,ENSG00000100341:ENST00000597664:exon6:c.T856C:p.W286R NA NA 22q13.31 NA NA NA NA rs739231 0.49 0.49 0.487 0.502396 0.3748 0.9048 0.4597 0.2436 0.5992 0.38 0.89 0.43 0.23 0.4446 0.89 0.54 T 0.0 B 0.0 B 0.399 N 1.000 P -0.46 N 1.8 T -1.013 T 0.000 T 0.388 -0.238 2.853 -2.74 -0.705 -0.878 1.958 -0.237927 NA 0.59 0.37314 0.266682 NA 0.377 NA 7.1407934 946 5 129521126 129521126 A G exonic CHSY3 NA nonsynonymous SNV CHSY3:NM_175856:exon3:c.A2291G:p.D764G exonic ENSG00000198108 NA nonsynonymous SNV ENSG00000198108:ENST00000305031:exon3:c.A2291G:p.D764G Score=549;Name=lod=227 NA 5q23.3 NA NA NA NA rs2015018 0.59 0.59 0.548 0.565495 0.7565 0.6647 0.6744 0.2269 0.6472 0.74 0.66 0.69 0.2 0.6882 0.75 . . 0.001 B 0.001 B 0.339 N 0.792 P 1.445 L 2.4 T -1.047 T 0.000 T 0.03 -1.062 0.181 1.72 0.388 2.692 6.830 -1.061795 NA 0.33 0.748953 0.337267 NA 0.522 NA 7.1396804 946 12 13103266 13103266 G T exonic GPRC5D NA nonsynonymous SNV GPRC5D:NM_018654:exon1:c.C53A:p.A18D exonic ENSG00000111291 NA nonsynonymous SNV ENSG00000111291:ENST00000228887:exon1:c.C53A:p.A18D,ENSG00000111291:ENST00000396333:exon1:c.C53A:p.A18D,ENSG00000111291:ENST00000541128:exon2:c.C53A:p.A18D NA NA 12p13.1 NA NA NA NA rs3741822 0.06 0.06 0.047 0.0662939 0.0586 0.1438 0.0677 0.0174 0.0593 0.05 0.12 0.05 0.01 0.0651 0.12 0.22 T 0.0 B 0.0 B 0.825 N 1.000 P 0 N 1.94 T -0.952 T 0.013 T 0.465 -1.105 0.138 0.18 -0.172 0.248 7.046 -1.105125 NA 0.59 0.070814 0.020654 NA 0.043 NA 7.1388194 946 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 946 14 61997226 61997226 C T exonic PRKCH NA synonymous SNV PRKCH:NM_006255:exon12:c.C1674T:p.N558N exonic ENSG00000027075,ENSG00000258989 NA synonymous SNV ENSG00000027075:ENST00000555185:exon4:c.C378T:p.N126N,ENSG00000027075:ENST00000332981:exon12:c.C1674T:p.N558N,ENSG00000027075:ENST00000555082:exon12:c.C1191T:p.N397N Score=554;Name=lod=239 NA 14q23.1 NA NA NA NA rs1088680 0.7 0.7 0.671 0.669329 0.8658 0.6657 0.8573 0.3132 0.819 0.88 0.69 0.86 0.3 0.7984 0.88 . . . . . . . . 0.000 P . . . . -1.013 T 0.000 T . 0.856 8.465 -2.77 -0.376 -2.180 14.243 0.856267 NA NA 0.864767 0.401498 NA 0.638 NA 7.1376996 946 5 37036492 37036492 C T exonic NIPBL NA synonymous SNV NIPBL:NM_015384:exon33:c.C5874T:p.S1958S,NIPBL:NM_133433:exon33:c.C5874T:p.S1958S exonic ENSG00000164190 NA synonymous SNV ENSG00000164190:ENST00000282516:exon33:c.C5874T:p.S1958S,ENSG00000164190:ENST00000448238:exon33:c.C5874T:p.S1958S Score=683;Name=lod=794 NA 5p13.2 NA NA NA NA rs61748200 0.16 0.16 0.156 0.171526 0.169 0.3026 0.1167 0.0303 0.2689 0.16 0.31 0.12 0.03 0.2284 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.709277 NA NA 0.1319 0.046969 NA 0.058 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000082497.1|RCV000127209.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.1373666 946 5 154395158 154395158 G T exonic KIF4B NA nonsynonymous SNV KIF4B:NM_001099293:exon1:c.G1739T:p.R580L exonic ENSG00000226650 NA nonsynonymous SNV ENSG00000226650:ENST00000435029:exon1:c.G1739T:p.R580L Score=743;Name=lod=1390 NA 5q33.2 NA NA NA NA rs6580126 0.67 0.67 0.656 0.720048 0.7565 0.4058 0.6369 0.9077 0.8119 0.76 0.37 0.66 0.88 0.7117 0.88 0.39 T 0.0 B 0.0 B . . 1.000 P -1.39 N -0.25 T -1.004 T 0.000 T 0.03 -2.115 0.006 1.48 0.066 1.693 5.766 -2.11497 NA 1 0.727791 0.875397 NA 0.754 NA 7.1373424 946 22 19119686 19119686 C T exonic TSSK2 NA synonymous SNV TSSK2:NM_053006:exon1:c.C774T:p.S258S exonic ENSG00000206203 NA synonymous SNV ENSG00000206203:ENST00000399635:exon1:c.C774T:p.S258S Score=385;Name=lod=49 NA 22q11.21 Score=788;Name=V$TAXCREB_01 NA NA NA rs1052756 0.14 0.14 0.117 0.155351 0.173 0.125 0.1297 0.0938 0.2699 0.18 0.12 0.15 0.08 0.172 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.474078 NA 0.12 0.184767 0.086473 NA 0.167 NA 7.1368996 946 19 42085873 42085873 A G exonic CEACAM21 NA nonsynonymous SNV CEACAM21:NM_001098506:exon3:c.A592G:p.M198V,CEACAM21:NM_033543:exon3:c.A592G:p.M198V exonic ENSG00000007129 NA nonsynonymous SNV ENSG00000007129:ENST00000187608:exon3:c.A592G:p.M198V,ENSG00000007129:ENST00000401445:exon3:c.A592G:p.M198V,ENSG00000007129:ENST00000407170:exon4:c.A208G:p.M70V NA NA 19q13.2 NA NA NA NA rs2302188 0.63 0.63 0.603 0.601038 0.7346 0.5992 0.7824 0.354 0.6708 0.73 0.58 0.76 0.42 0.7142 0.76 0.06 T 0.024 B 0.001 B . . 1.000 P -0.52 N 1.24 T -0.978 T 0.000 T 0.065 0.158 4.849 -5.3 -1.495 0.253 5.493 0.157854 NA 0.27 0.74869 0.448141 NA 0.63 NA 7.1358434 946 12 121437114 121437114 G A exonic HNF1A NA synonymous SNV HNF1A:NM_000545:exon8:c.G1545A:p.T515T exonic ENSG00000135100 NA synonymous SNV ENSG00000135100:ENST00000257555:exon8:c.G1545A:p.T515T,ENSG00000135100:ENST00000541395:exon8:c.G1545A:p.T515T,ENSG00000135100:ENST00000544413:exon8:c.G1545A:p.T515T NA NA 12q24.31 NA Name=Pol2 NA NA rs55834942 0.09 0.09 0.101 0.0628994 0.1988 0.001 0.1095 0.0121 0.0225 0.2 NA 0.12 0.02 0.1404 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.371714 1.371714 NA 0.19237 0.039719 ID=COSM1559373;OCCURENCE=3(central_nervous_system) 0.123 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117229.2|RCV000125376.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.1350966 947 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 947 16 68293320 68293320 T C exonic PLA2G15 NA synonymous SNV PLA2G15:NM_012320:exon6:c.T999C:p.G333G exonic ENSG00000103066 NA synonymous SNV ENSG00000103066:ENST00000444212:exon2:c.T399C:p.G133G,ENSG00000103066:ENST00000413021:exon5:c.T717C:p.G239G,ENSG00000103066:ENST00000219345:exon6:c.T999C:p.G333G Score=486;Name=lod=126 NA 16q22.1 NA NA Name=2 NA rs3743739 0.21 0.21 0.207 0.217652 0.166 0.1022 0.2032 0.3623 0.2045 0.17 0.12 0.2 0.37 0.1952 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.035191 NA NA 0.171744 0.316879 ID=COSM1128902;OCCURENCE=1(prostate) 0.304 NA 7.1337226 947 5 150901613 150901613 A G exonic FAT2 NA nonsynonymous SNV FAT2:NM_001447:exon18:c.T10541C:p.L3514S exonic ENSG00000086570 NA nonsynonymous SNV ENSG00000086570:ENST00000261800:exon18:c.T10541C:p.L3514S NA NA 5q33.1 NA NA NA NA rs2053028 0.77 0.77 0.754 0.775759 0.7167 0.9494 0.7997 0.6188 0.8528 0.72 0.95 0.79 0.63 0.766 0.95 0.88 T 0.0 B 0.005 B 0.002 N 1.000 P -1.005 N 0.75 T -0.968 T 0.000 T 0.287 -0.816 0.634 2.36 0.036 2.342 9.270 -0.816203 NA 0.34 0.717558 0.636178 ID=COSM292313;OCCURENCE=1(large_intestine) 0.659 NA 7.1330754 947 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$STAT3_01 NA NA NA rs2116765 0.33 0.33 0.316 0.367812 0.162 0.4712 0.3631 0.5136 0.2791 0.14 0.47 0.3 0.49 0.2342 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.534818 1.534818 NA 0.137791 0.434408 NA 0.362 NA 7.1326756 947 19 3831765 3831765 G A exonic ZFR2 NA nonsynonymous SNV ZFR2:NM_015174:exon4:c.C491T:p.S164L exonic ENSG00000105278 NA nonsynonymous SNV ENSG00000105278:ENST00000262961:exon4:c.C491T:p.S164L,ENSG00000105278:ENST00000438164:exon4:c.C491T:p.S164L NA NA 19p13.3 NA NA NA NA rs2240235 0.41 0.41 0.413 0.367212 0.4195 0.4196 0.4193 0.3858 0.1973 0.41 0.41 0.43 0.4 0.3897 0.43 0.59 T 0.035 B 0.003 B 0.123 N 0.995 P 1.445 L 3.18 T -0.914 T 0.000 T 0.033 2.839 15.46 2.14 0.552 0.516 6.219 2.839235 2.839235 0.01 0.391965 0.398882 ID=COSM439377;OCCURENCE=1(breast) 0.37 NA 7.1321684 947 1 52266242 52266242 G A exonic NRD1 NA synonymous SNV NRD1:NM_001101662:exon21:c.C2427T:p.P809P,NRD1:NM_001242361:exon23:c.C2235T:p.P745P,NRD1:NM_002525:exon23:c.C2631T:p.P877P exonic ENSG00000078618 NA synonymous SNV ENSG00000078618:ENST00000352171:exon21:c.C2427T:p.P809P,ENSG00000078618:ENST00000544028:exon21:c.C2031T:p.P677P,ENSG00000078618:ENST00000354831:exon23:c.C2631T:p.P877P,ENSG00000078618:ENST00000539524:exon23:c.C2235T:p.P745P NA NA 1p32.3 NA NA NA NA rs8375 0.54 0.54 0.503 0.489018 0.5298 0.8234 0.5937 0.2224 0.3885 0.52 0.81 0.56 0.23 0.5032 0.81 . . . . . . . . 0.000 P . . . . . . . . . 0.54 6.926 -4.12 -0.487 -3.991 1.903 0.54047 NA NA 0.502442 0.278711 NA 0.58 NA 7.1312246 947 2 61577435 61577435 T C exonic USP34 NA synonymous SNV USP34:NM_014709:exon12:c.A1467G:p.A489A exonic ENSG00000115464 NA synonymous SNV ENSG00000115464:ENST00000398571:exon12:c.A1467G:p.A489A Score=620;Name=lod=440 NA 2p15 Score=817;Name=V$OCT1_04 NA NA NA rs2166720 0.18 0.18 0.169 0.202476 0.1779 0.2907 0.2421 0.0182 0.3579 0.17 0.31 0.2 0.02 0.2056 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.321952 1.321952 NA 0.153337 0.044053 NA 0.174 NA 7.1298296 947 11 75277992 75277992 C T exonic SERPINH1 NA synonymous SNV SERPINH1:NM_001235:exon2:c.C598T:p.L200L,SERPINH1:NM_001207014:exon3:c.C598T:p.L200L exonic ENSG00000149257 NA synonymous SNV ENSG00000149257:ENST00000358171:exon2:c.C598T:p.L200L,ENSG00000149257:ENST00000524558:exon2:c.C598T:p.L200L,ENSG00000149257:ENST00000526397:exon2:c.C598T:p.L200L,ENSG00000149257:ENST00000525611:exon3:c.C598T:p.L200L,ENSG00000149257:ENST00000528760:exon3:c.C598T:p.L200L,ENSG00000149257:ENST00000530284:exon3:c.C598T:p.L200L,ENSG00000149257:ENST00000532356:exon3:c.C598T:p.L200L,ENSG00000149257:ENST00000533603:exon3:c.C598T:p.L200L Score=536;Name=lod=202 NA 11q13.5 Score=780;Name=V$PAX5_01 Name=CCNT2 NA NA rs651581 0.35 0.35 0.352 0.299321 0.5417 0.2976 0.3213 0.0847 0.3262 0.54 0.31 0.36 0.09 0.44 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.861796 NA NA 0.55562 0.172437 NA 0.333 NA 7.1293466 947 3 88199298 88199298 T C exonic C3orf38 NA synonymous SNV C3orf38:NM_173824:exon1:c.T96C:p.T32T exonic ENSG00000179021 NA synonymous SNV ENSG00000179021:ENST00000318887:exon1:c.T96C:p.T32T,ENSG00000179021:ENST00000486971:exon1:c.T96C:p.T32T Score=499;Name=lod=142 NA 3p11.1 Score=680;Name=V$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 947 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 947 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 947 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 947 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 947 9 2648773 2648773 A G exonic VLDLR NA synonymous SNV VLDLR:NM_001018056:exon14:c.A2067G:p.Q689Q,VLDLR:NM_003383:exon14:c.A2067G:p.Q689Q exonic ENSG00000147852 NA synonymous SNV ENSG00000147852:ENST00000382099:exon14:c.A2067G:p.Q689Q,ENSG00000147852:ENST00000382100:exon14:c.A2067G:p.Q689Q Score=560;Name=lod=251 NA 9p24.2 NA NA NA NA rs6148 0.1 0.1 0.097 0.0738818 0.2068 0.002 0.0793 0.0265 0.0716 0.21 0.0035 0.09 0.03 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 1.161355 NA NA 0.187093 0.048343 NA 0.065 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118821.2;CLNDSDB=.;CLNDSDBID=. 7.1277736 947 10 3189380 3189380 C T exonic PITRM1 NA synonymous SNV PITRM1:NM_001242309:exon17:c.G2004A:p.P668P,PITRM1:NM_001242307:exon20:c.G2301A:p.P767P,PITRM1:NM_014889:exon20:c.G2298A:p.P766P exonic ENSG00000107959 NA synonymous SNV ENSG00000107959:ENST00000380994:exon9:c.G972A:p.P324P,ENSG00000107959:ENST00000451104:exon17:c.G2004A:p.P668P,ENSG00000107959:ENST00000224949:exon20:c.G2298A:p.P766P,ENSG00000107959:ENST00000380989:exon20:c.G2301A:p.P767P NA NA 10p15.2 NA NA NA NA rs3740607 0.57 0.57 0.577 0.545327 0.5239 0.6865 0.5403 0.4508 0.5532 0.53 0.72 0.58 0.46 0.5231 0.72 . . . . . . . . 0.000 P . . . . -0.951 T 0.000 T . -0.874 0.495 -9.12 -1.269 -0.493 1.103 -0.87355 NA NA 0.492131 0.46742 NA 0.58 NA 7.1275356 947 7 158534372 158534372 G A exonic ESYT2 NA synonymous SNV ESYT2:NM_020728:exon17:c.C2091T:p.A697A exonic ENSG00000117868 NA synonymous SNV ENSG00000117868:ENST00000435514:exon2:c.C396T:p.A132A,ENSG00000117868:ENST00000251527:exon17:c.C2091T:p.A697A,ENSG00000117868:ENST00000275418:exon18:c.C2064T:p.A688A Score=369;Name=lod=42 NA 7q36.3 Score=837;Name=V$ATF_01 NA NA NA rs57686648 0.31 0.31 0.283 0.319888 0.166 0.5774 0.183 0.3563 0.2607 0.17 0.56 0.18 0.33 0.2169 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488139 NA NA 0.156279 0.308216 NA 0.188 NA 7.1274876 947 1 145561594 145561594 C T exonic ANKRD35 NA nonsynonymous SNV ANKRD35:NM_144698:exon10:c.C1282T:p.P428S exonic ENSG00000198483 NA nonsynonymous SNV ENSG00000198483:ENST00000355594:exon10:c.C1282T:p.P428S NA NA 1q21.1 NA NA NA NA rs6670984 0.53 0.53 0.537 0.564696 0.3797 0.7252 0.5043 0.5794 0.6125 0.38 0.73 0.47 0.56 0.4587 0.73 0.75 T 0.001 B 0.002 B 0.800 N 1.000 P 1.25 L -0.13 T -1.089 T 0.052 T 0.024 -0.41 2.083 -3.07 -0.485 0.280 6.798 -0.410284 NA 1 0.367791 0.527916 NA 0.478 NA 7.1271424 947 5 665295 665295 A G exonic TPPP NA synonymous SNV TPPP:NM_007030:exon4:c.T582C:p.D194D exonic ENSG00000171368 NA synonymous SNV ENSG00000171368:ENST00000360578:exon4:c.T582C:p.D194D Score=436;Name=lod=79 NA 5p15.33 NA Name=ERalpha_a NA NA rs61731455 0.1 0.1 0.08 0.0960463 0.1909 0.0208 0.1599 0.0061 0.1524 0.2 0.02 0.17 0.0041 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 2.363504 2.363504 NA 0.196047 0.038357 ID=COSM1438474;OCCURENCE=1(large_intestine) 0.087 NA 7.1268196 947 5 178410151 178410151 C T exonic GRM6 NA synonymous SNV GRM6:NM_000843:exon9:c.G2196A:p.T732T exonic ENSG00000113262 NA synonymous SNV ENSG00000113262:ENST00000231188:exon9:c.G2196A:p.T732T,ENSG00000113262:ENST00000517717:exon10:c.G2196A:p.T732T Score=391;Name=lod=52 NA 5q35.3 NA NA NA NA rs2071247 0.25 0.25 0.26 0.251198 0.168 0.372 0.2003 0.2171 0.2945 0.17 0.41 0.15 0.27 0.2069 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.126782 NA NA 0.165 0.201997 NA 0.181 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086046.1;CLNDSDB=.;CLNDSDBID=. 7.1267666 947 4 88415636 88415636 G C exonic SPARCL1 NA nonsynonymous SNV SPARCL1:NM_004684:exon4:c.C316G:p.H106D,SPARCL1:NM_001128310:exon5:c.C316G:p.H106D exonic ENSG00000152583 NA nonsynonymous SNV ENSG00000152583:ENST00000282470:exon4:c.C316G:p.H106D,ENSG00000152583:ENST00000418378:exon5:c.C316G:p.H106D,ENSG00000152583:ENST00000434434:exon5:c.C316G:p.H106D,ENSG00000152583:ENST00000509407:exon5:c.C316G:p.H106D,ENSG00000152583:ENST00000535835:exon5:c.C316G:p.H106D,ENSG00000152583:ENST00000512317:exon6:c.C316G:p.H106D NA NA 4q22.1 NA NA NA NA rs1049544 0.52 0.52 0.506 0.575679 0.3787 0.4375 0.5043 0.8828 0.5562 0.36 0.4 0.52 0.88 0.4568 0.88 1 T 0.0 B 0.0 B 0.007 N 1.000 P -1.1 N 1.05 T -0.962 T 0.000 T 0.164 -2.345 0.004 4.25 0.820 0.940 7.981 -2.345033 NA 1 0.371744 0.807308 ID=COSM149708;OCCURENCE=1(stomach) 0.652 NA 7.1260894 947 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 947 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 948 1 179858444 179858444 G A splicing TOR1AIP1 NM_001267578:exon3:c.554-1G>A NA NA splicing ENSG00000143337 ENST00000528443:exon3:c.554-1G>A,ENST00000271583:exon3:c.554-1G>A NA NA NA NA 1q25.2 NA NA NA NA rs2245425 0.63 0.63 0.602 0.635383 0.6064 0.7778 0.6916 0.4644 0.7096 0.61 0.79 0.67 0.44 0.6466 0.79 . . . . . . . . 0.000 P . . . . . . . . . 1.765 11.86 5.26 2.598 4.200 14.730 1.764619 1.764619 NA 0.623779 0.503631 NA 0.696 NA 7.123221 948 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 948 1 236706862 236706862 G C exonic LGALS8 NA nonsynonymous SNV LGALS8:NM_201544:exon8:c.G552C:p.R184S,LGALS8:NM_201543:exon9:c.G552C:p.R184S,LGALS8:NM_006499:exon10:c.G678C:p.R226S,LGALS8:NM_201545:exon10:c.G678C:p.R226S exonic ENSG00000116977 NA nonsynonymous SNV ENSG00000116977:ENST00000238181:exon6:c.G375C:p.R125S,ENSG00000116977:ENST00000525042:exon6:c.G501C:p.R167S,ENSG00000116977:ENST00000416919:exon7:c.G501C:p.R167S,ENSG00000116977:ENST00000323938:exon8:c.G471C:p.R157S,ENSG00000116977:ENST00000366584:exon8:c.G552C:p.R184S,ENSG00000116977:ENST00000526634:exon8:c.G552C:p.R184S,ENSG00000116977:ENST00000341872:exon9:c.G552C:p.R184S,ENSG00000116977:ENST00000527974:exon9:c.G678C:p.R226S,ENSG00000116977:ENST00000352231:exon10:c.G678C:p.R226S,ENSG00000116977:ENST00000450372:exon10:c.G678C:p.R226S,ENSG00000116977:ENST00000526589:exon12:c.G678C:p.R226S NA NA 1q43 NA NA NA NA rs2243525 0.72 0.72 0.723 0.677716 0.7396 0.6865 0.7622 0.7005 0.5143 0.73 0.7 0.75 0.71 0.7188 0.77 0.49 T 0.0 B 0.0 B 0.023 N 1.000 P 0 N 2.83 T -1.044 T 0.000 T 0.137 -0.353 2.333 -2.97 -0.559 -1.636 2.282 -0.35295 NA 0.13 0.752907 0.722651 NA 0.754 NA 7.1220264 948 14 23549319 23549319 A G exonic ACIN1 NA nonsynonymous SNV ACIN1:NM_001164815:exon5:c.T1279C:p.S427P,ACIN1:NM_001164814:exon6:c.T1399C:p.S467P,ACIN1:NM_014977:exon6:c.T1399C:p.S467P exonic ENSG00000100813 NA nonsynonymous SNV ENSG00000100813:ENST00000457657:exon5:c.T1279C:p.S427P,ENSG00000100813:ENST00000262710:exon6:c.T1399C:p.S467P,ENSG00000100813:ENST00000555053:exon6:c.T1399C:p.S467P,ENSG00000100813:ENST00000605057:exon6:c.T1225C:p.S409P NA NA 14q11.2 NA NA NA NA rs1885097 0.39 0.39 0.404 0.428315 0.3777 0.3948 0.3573 0.4796 0.4959 0.36 0.39 0.36 0.46 0.4226 0.51 0.02 D 0.002 B 0.004 B 0.156 N 0.158 P 0.805 L 1.9 T -0.926 T 0.000 T 0.429 0.166 4.892 -0.281 -0.196 -0.216 7.160 0.165752 NA 0.03 0.411628 0.510894 NA 0.406 NA 7.1214054 948 9 115941046 115941046 T C exonic FKBP15 NA synonymous SNV FKBP15:NM_015258:exon20:c.A1950G:p.A650A exonic ENSG00000119321 NA synonymous SNV ENSG00000119321:ENST00000238256:exon20:c.A1950G:p.A650A,ENSG00000119321:ENST00000446284:exon20:c.A2025G:p.A675A Score=590;Name=lod=332 NA 9q32 Score=771;Name=V$PAX5_02 NA NA NA rs3810912 0.1 0.1 0.081 0.0852636 0.1789 0.0546 0.0836 0.0151 0.1166 0.19 0.07 0.1 0.01 0.1912 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 1.617785 1.617785 NA 0.175552 0.035268 NA 0.123 NA 7.1210146 948 6 28294550 28294550 T C exonic ZSCAN31 NA nonsynonymous SNV ZSCAN31:NM_001243243:exon3:c.A137G:p.K46R,ZSCAN31:NM_001243244:exon3:c.A137G:p.K46R,ZSCAN31:NM_001135216:exon4:c.A614G:p.K205R,ZSCAN31:NM_001243241:exon4:c.A614G:p.K205R,ZSCAN31:NM_001243242:exon4:c.A137G:p.K46R,ZSCAN31:NM_030899:exon4:c.A614G:p.K205R exonic ENSG00000235109 NA nonsynonymous SNV ENSG00000235109:ENST00000435857:exon3:c.A137G:p.K46R,ENSG00000235109:ENST00000446474:exon3:c.A137G:p.K46R,ENSG00000235109:ENST00000344279:exon4:c.A614G:p.K205R,ENSG00000235109:ENST00000414431:exon4:c.A137G:p.K46R,ENSG00000235109:ENST00000439158:exon4:c.A614G:p.K205R,ENSG00000235109:ENST00000453745:exon4:c.A614G:p.K205R,ENSG00000235109:ENST00000396838:exon8:c.A614G:p.K205R,ENSG00000235109:ENST00000414429:exon8:c.A614G:p.K205R NA NA 6p22.1 NA Name=SETDB1,KAP1 NA NA rs853684 0.58 0.58 0.607 0.615615 0.3807 0.6042 0.4899 0.9531 0.502 0.37 0.61 0.49 0.94 0.4485 0.94 0.69 T 0.0 B 0.0 B . . 1.000 P -0.895 N 5.95 T -0.935 T 0.001 T 0.118 0.185 4.994 -0.837 -0.197 -0.260 0.317 0.184589 NA 0.48 0.383953 0.847254 NA 0.594 NA 7.1201804 948 9 107266596 107266596 T C exonic OR13F1 NA nonsynonymous SNV OR13F1:NM_001004485:exon1:c.T53C:p.F18S exonic ENSG00000186881 NA nonsynonymous SNV ENSG00000186881:ENST00000334726:exon1:c.T53C:p.F18S NA NA 9q31.1 NA NA NA NA rs7049042 0.78 0.78 0.779 0.783546 0.7475 0.7827 0.7666 0.9062 0.6677 0.75 0.77 0.73 0.89 0.7411 0.89 1 T 0.0 B 0.0 B 0.313 N 1.000 P -2.345 N 7.46 T -1.054 T 0.000 T 0.042 -2.651 0 3.0 0.620 2.260 7.697 -2.651161 NA 1 0.725 0.86246 NA 0.768 NA 7.1197334 948 4 2275835 2275835 G A exonic ZFYVE28 NA synonymous SNV ZFYVE28:NM_001172656:exon8:c.C2070T:p.F690F,ZFYVE28:NM_001172659:exon9:c.C1950T:p.F650F,ZFYVE28:NM_020972:exon9:c.C2160T:p.F720F exonic ENSG00000159733 NA synonymous SNV ENSG00000159733:ENST00000508471:exon3:c.C75T:p.F25F,ENSG00000159733:ENST00000511071:exon8:c.C2070T:p.F690F,ENSG00000159733:ENST00000290974:exon9:c.C2160T:p.F720F,ENSG00000159733:ENST00000515312:exon9:c.C1950T:p.F650F Score=575;Name=lod=290 NA 4p16.3 NA Name=YY1,Pol2(b),GABP,Pol2-4H8,E2F6_(H-50),GATA2_(CG2-96),Pol2 Name=4 NA rs2051561 0.4 0.4 0.388 0.35623 0.5427 0.12 0.513 0.3623 0.2883 0.58 0.09 0.53 0.38 0.4678 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.51482 1.51482 NA 0.536744 0.353382 NA 0.5 NA 7.1194226 948 8 144620183 144620183 T C exonic ZC3H3 NA nonsynonymous SNV ZC3H3:NM_015117:exon2:c.A1354G:p.S452G exonic ENSG00000014164 NA nonsynonymous SNV ENSG00000014164:ENST00000262577:exon2:c.A1354G:p.S452G Score=449;Name=lod=89 NA 8q24.3 NA NA NA NA rs4874147 0.79 0.79 0.78 0.775958 0.7366 0.9256 0.7594 0.6899 0.7904 0.76 0.94 0.75 0.69 0.7479 0.94 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.59 N 4.21 T -1.016 T 0.000 T 0.021 -2.158 0.005 4.33 0.608 0.821 8.918 -2.158348 NA 1 0.729419 0.690195 NA 0.63 NA 7.1194144 948 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,Mxi1_(bHLH),PU.1,SMC3_(ab9263),USF2,E2F6 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 948 20 42826379 42826379 C T exonic C20orf111 NA synonymous SNV C20orf111:NM_016470:exon4:c.G192A:p.G64G exonic ENSG00000132823 NA synonymous SNV ENSG00000132823:ENST00000255174:exon4:c.G192A:p.G64G,ENSG00000132823:ENST00000372970:exon6:c.G192A:p.G64G Score=634;Name=lod=505 NA 20q13.12 Score=756;Name=V$MEF2_01 NA NA NA rs11274 0.35 0.35 0.365 0.382588 0.1561 0.4782 0.1571 0.6346 0.3364 0.17 0.46 0.18 0.65 0.2435 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.863738 NA NA 0.148372 0.537903 NA 0.326 NA 7.1186946 948 8 18729459 18729459 T C exonic PSD3 NA synonymous SNV PSD3:NM_015310:exon3:c.A915G:p.E305E exonic ENSG00000156011 NA synonymous SNV ENSG00000156011:ENST00000523619:exon2:c.A720G:p.E240E,ENSG00000156011:ENST00000327040:exon3:c.A915G:p.E305E,ENSG00000156011:ENST00000440756:exon3:c.A915G:p.E305E Score=479;Name=lod=118 NA 8p22 Score=760;Name=V$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 948 11 5443893 5443893 G A exonic OR51Q1 NA nonsynonymous SNV OR51Q1:NM_001004757:exon1:c.G463A:p.V155I exonic ENSG00000167360 NA nonsynonymous SNV ENSG00000167360:ENST00000300778:exon1:c.G463A:p.V155I NA NA 11p15.4 NA NA NA NA rs10838094 0.44 0.44 0.387 0.453674 0.3986 0.7024 0.3991 0.2799 0.5276 0.37 0.69 0.41 0.28 0.4251 0.69 0.4 T 0.039 B 0.039 B 0.205 N 1.000 P 0.295 N 1.24 T -0.989 T 0.000 T 0.007 -0.547 1.521 1.97 0.734 -1.229 6.206 -0.547012 NA 0.48 0.39225 0.299637 NA 0.319 NA 7.1173834 948 2 71838597 71838597 C A exonic DYSF NA synonymous SNV DYSF:NM_001130976:exon37:c.C3966A:p.I1322I,DYSF:NM_001130977:exon37:c.C3966A:p.I1322I,DYSF:NM_001130984:exon37:c.C3969A:p.I1323I,DYSF:NM_001130986:exon37:c.C3969A:p.I1323I,DYSF:NM_001130455:exon38:c.C4011A:p.I1337I,DYSF:NM_001130978:exon38:c.C4008A:p.I1336I,DYSF:NM_001130980:exon38:c.C4059A:p.I1353I,DYSF:NM_001130981:exon38:c.C4059A:p.I1353I,DYSF:NM_001130983:exon38:c.C4011A:p.I1337I,DYSF:NM_001130985:exon38:c.C4062A:p.I1354I,DYSF:NM_001130987:exon38:c.C4062A:p.I1354I,DYSF:NM_003494:exon38:c.C4008A:p.I1336I,DYSF:NM_001130979:exon39:c.C4101A:p.I1367I,DYSF:NM_001130982:exon39:c.C4104A:p.I1368I exonic ENSG00000135636 NA synonymous SNV ENSG00000135636:ENST00000409744:exon37:c.C3969A:p.I1323I,ENSG00000135636:ENST00000258104:exon38:c.C4008A:p.I1336I,ENSG00000135636:ENST00000394120:exon38:c.C4011A:p.I1337I,ENSG00000135636:ENST00000409366:exon38:c.C4011A:p.I1337I,ENSG00000135636:ENST00000409582:exon38:c.C4059A:p.I1353I,ENSG00000135636:ENST00000409762:exon38:c.C4059A:p.I1353I,ENSG00000135636:ENST00000410020:exon38:c.C4062A:p.I1354I,ENSG00000135636:ENST00000410041:exon38:c.C4062A:p.I1354I,ENSG00000135636:ENST00000429174:exon38:c.C4008A:p.I1336I,ENSG00000135636:ENST00000409651:exon39:c.C4104A:p.I1368I,ENSG00000135636:ENST00000413539:exon39:c.C4101A:p.I1367I Score=579;Name=lod=300 NA 2p13.2 Score=887;Name=V$NF1_Q6 NA NA NA rs2303606 0.48 0.48 0.438 0.449481 0.5378 0.4792 0.5331 0.3585 0.3916 0.54 0.46 0.53 0.37 0.5015 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.544435 NA NA 0.510698 0.395143 NA 0.493 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080282.3;CLNDSDB=.;CLNDSDBID=. 7.1166686 948 6 167754721 167754721 G A exonic TTLL2 NA nonsynonymous SNV TTLL2:NM_031949:exon3:c.G1333A:p.G445S exonic ENSG00000120440 NA nonsynonymous SNV ENSG00000120440:ENST00000239587:exon3:c.G1333A:p.G445S,ENSG00000120440:ENST00000515138:exon3:c.G1333A:p.G445S NA NA 6q27 NA NA NA NA rs9457304 0.06 0.06 0.068 0.0623003 0.0676 NA 0.0432 0.1362 0.0348 0.07 NA 0.04 0.13 0.0687 0.14 0.86 T 0.276 B 0.062 B 0.879 N 1.000 P 0.695 N 4.4 T -0.940 T 0.001 T 0.057 0.766 8.051 -0.681 0.024 -0.822 1.327 0.765961 NA 0.25 0.080581 0.137767 NA 0.051 NA 7.1164524 948 19 22846788 22846788 C A exonic ZNF492 NA nonsynonymous SNV ZNF492:NM_020855:exon4:c.C317A:p.T106K exonic ENSG00000229676 NA nonsynonymous SNV ENSG00000229676:ENST00000456783:exon4:c.C317A:p.T106K NA NA 19p12 NA NA NA NA rs11672238 0.07 0.07 0.065 0.0726837 0.0557 0.1409 0.1239 0.0053 0.0746 0.06 0.13 0.08 0.01 0.092 0.13 0.16 T 0.002 B 0.007 B . . 1.000 P 1.64 L 1.25 T -1.049 T 0.001 T 0.056 -0.27 2.705 -1.98 -0.561 -0.308 4.772 -0.27003 NA 0.05 0.069291 0.012271 NA 0.094 NA 7.1163424 948 3 42907112 42907112 A C exonic CCBP2 NA nonsynonymous SNV CCBP2:NM_001296:exon3:c.A1118C:p.Y373S exonic ENSG00000144648 NA nonsynonymous SNV ENSG00000144648:ENST00000273145:exon2:c.A1118C:p.Y373S,ENSG00000144648:ENST00000442925:exon2:c.A1118C:p.Y373S,ENSG00000144648:ENST00000422265:exon3:c.A1118C:p.Y373S NA Name=Monocyte count 3p22.1 NA NA NA NA rs2228468 0.46 0.46 0.41 0.441094 0.4006 0.6776 0.5807 0.2292 0.4264 0.4 0.68 0.56 0.24 0.4218 0.68 . . 0.0 B 0.0 B . . 1.000 P -0.345 N -0.52 T -0.940 T 0.000 T 0.009 -2.001 0.007 0.689 -0.082 -0.129 3.105 -2.000847 NA 1 0.395 0.25488 ID=COSM1423149;OCCURENCE=1(large_intestine) 0.493 NA 7.1159334 948 7 99817859 99817859 A G exonic PVRIG NA nonsynonymous SNV PVRIG:NM_024070:exon3:c.A241G:p.N81D exonic ENSG00000213413 NA nonsynonymous SNV ENSG00000213413:ENST00000317271:exon3:c.A241G:p.N81D NA NA 7q22.1 NA Name=Pol2-4H8 Name=6 NA rs2906645 0.65 0.65 0.675 0.657548 0.7326 0.38 0.4971 0.8502 0.7198 0.73 0.41 0.56 0.85 0.7468 0.85 1 T 0.0 B 0.0 B . . 1.000 P -0.975 N 1.07 T -0.976 T 0.000 T 0.008 -2.401 0.003 1.75 0.210 0.363 4.918 -2.400509 NA 1 0.738062 0.808636 ID=COSM1132895;OCCURENCE=1(prostate) 0.587 NA 7.1158714 948 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 948 1 62728784 62728784 A G exonic KANK4 NA nonsynonymous SNV KANK4:NM_181712:exon7:c.T2519C:p.V840A exonic ENSG00000132854 NA nonsynonymous SNV ENSG00000132854:ENST00000371150:exon4:c.T587C:p.V196A,ENSG00000132854:ENST00000354381:exon6:c.T635C:p.V212A,ENSG00000132854:ENST00000371153:exon7:c.T2519C:p.V840A Score=488;Name=lod=128 NA 1p31.3 NA NA NA NA rs2666472 0.72 0.72 0.679 0.715855 0.7396 0.8433 0.7882 0.5484 0.7352 0.74 0.81 0.78 0.53 0.7444 0.81 0.22 T 0.068 B 0.06 B 0.475 N 0.000 P 1.34 L -0.44 T -0.962 T 0.000 T 0.19 1.885 12.26 -0.649 -0.814 2.839 12.662 1.884846 1.884846 0.25 0.733837 0.558103 NA 0.797 NA 7.1154964 948 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 949 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 949 6 158924595 158924595 A G exonic TULP4 NA synonymous SNV TULP4:NM_020245:exon13:c.A3900G:p.Q1300Q exonic ENSG00000130338 NA synonymous SNV ENSG00000130338:ENST00000367097:exon13:c.A3900G:p.Q1300Q Score=515;Name=lod=165 NA 6q25.3 Score=759;Name=V$HTF_01 NA NA NA rs3749853 0.16 0.16 0.151 0.144968 0.1889 0.1389 0.1037 0.1672 0.1053 0.17 0.14 0.12 0.19 0.168 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.040542 NA NA 0.195814 0.160009 NA 0.159 NA 7.1139526 949 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 949 19 14769339 14769339 C G exonic EMR3 NA nonsynonymous SNV EMR3:NM_032571:exon5:c.G379C:p.E127Q exonic ENSG00000131355 NA nonsynonymous SNV ENSG00000131355:ENST00000344373:exon4:c.G223C:p.E75Q,ENSG00000131355:ENST00000253673:exon5:c.G379C:p.E127Q NA NA 19p13.12 NA NA NA NA rs4606855 0.8 0.8 0.833 0.855831 0.7227 0.8849 0.7478 0.9682 0.8875 0.73 0.84 0.69 0.95 0.7747 0.95 0.25 T 0.006 B 0.005 B . . 1.000 P 0 N 2.84 T -1.054 T 0.000 T 0.07 -1.389 0.024 -5.85 -2.680 -0.756 7.910 -1.388845 NA 0.2 0.723721 0.928507 NA 0.536 NA 7.1122124 949 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=eGFP-JunD,eGFP-GATA2,MafK_(ab50322),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 949 2 228476140 228476140 C T exonic C2orf83 NA stopgain C2orf83:NM_020161:exon3:c.G423A:p.W141X exonic ENSG00000042304 NA stopgain ENSG00000042304:ENST00000264387:exon3:c.G423A:p.W141X NA NA 2q36.3 NA NA NA NA rs2176186 0.31 0.31 0.295 0.313898 0.2753 0.4058 0.3401 0.2254 0.3599 0.27 0.42 0.32 0.23 0.3089 0.42 1 T . . . . . . 1.000 P . . . . . . . . . 1.034 9.224 -1.83 -0.890 0.799 4.089 1.034135 NA NA 0.305581 0.23241 NA 0.232 NA 7.110219 949 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 949 1 22160043 22160043 C T exonic HSPG2 NA nonsynonymous SNV HSPG2:NM_005529:exon79:c.G10895A:p.R3632Q exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000426143:exon3:c.G551A:p.R184Q,ENSG00000142798:ENST00000374695:exon79:c.G10895A:p.R3632Q NA NA 1p36.12 NA NA NA NA rs2229493 0.08 0.08 0.092 0.0858626 0.0676 NA 0.0504 0.1672 0.1084 0.06 NA 0.06 0.19 0.0795 0.19 0.57 T 0.091 B 0.026 B 0.965 N 1.000 P 0.155 N 2.78 T -1.067 T 0.000 T 0.132 -0.114 3.442 -1.15 -0.314 -0.065 8.850 -0.11376 NA 0.45 0.07686 0.173173 NA 0.08 NA 7.1093734 949 6 161557662 161557662 G A exonic AGPAT4 NA synonymous SNV AGPAT4:NM_020133:exon9:c.C1047T:p.S349S exonic ENSG00000026652 NA synonymous SNV ENSG00000026652:ENST00000457520:exon6:c.C561T:p.S187S,ENSG00000026652:ENST00000320285:exon9:c.C1047T:p.S349S Score=393;Name=lod=53 NA 6q26 NA NA Name=9 NA rs3734462 0.17 0.17 0.152 0.137181 0.1899 0.1825 0.33 0.0204 0.0573 0.18 0.2 0.28 0.03 0.1785 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042655 NA NA 0.189651 0.04857 NA 0.203 NA 7.1086156 949 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 949 1 22168801 22168801 T C exonic HSPG2 NA nonsynonymous SNV HSPG2:NM_005529:exon68:c.A8983G:p.S2995G exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000374695:exon68:c.A8983G:p.S2995G NA NA 1p36.12 NA NA NA NA rs2229491 0.08 0.08 0.076 0.0886581 0.0676 NA 0.0533 0.1762 0.1084 0.06 NA 0.06 0.2 0.0812 0.2 0.4 T 0.0 B 0.0 B 0.031 N 1.000 P 0.235 N 0.94 T -1.020 T 0.000 T 0.036 -1.435 0.02 1.0 -0.063 -0.066 1.546 -1.435149 NA 1 0.076744 0.181344 NA 0.087 NA 7.1077894 949 12 108035903 108035903 T C exonic BTBD11 NA synonymous SNV BTBD11:NM_001017523:exon12:c.T1488C:p.D496D,BTBD11:NM_001018072:exon14:c.T2877C:p.D959D exonic ENSG00000151136 NA synonymous SNV ENSG00000151136:ENST00000494235:exon4:c.T114C:p.D38D,ENSG00000151136:ENST00000357167:exon12:c.T1488C:p.D496D,ENSG00000151136:ENST00000420571:exon12:c.T2520C:p.D840D,ENSG00000151136:ENST00000280758:exon14:c.T2877C:p.D959D,ENSG00000151136:ENST00000490090:exon14:c.T2877C:p.D959D Score=576;Name=lod=291 NA 12q23.3 Score=884;Name=V$E47_02 NA NA NA rs9919712 0.18 0.18 0.17 0.195687 0.1948 0.003 0.1383 0.3835 0.182 0.18 0.01 0.19 0.36 0.1753 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.664627 NA NA 0.188837 0.327054 NA 0.384 NA 7.1077296 949 15 42742435 42742435 T C exonic ZNF106 NA nonsynonymous SNV ZNF106:NM_022473:exon2:c.A1966G:p.M656V exonic ENSG00000103994 NA nonsynonymous SNV ENSG00000103994:ENST00000263805:exon2:c.A1966G:p.M656V,ENSG00000103994:ENST00000565948:exon2:c.A1315G:p.M439V NA NA 15q15.1 NA NA NA NA rs34792942 0.04 0.04 0.039 0.0579073 0.0746 0.002 0.0533 0.0363 0.1309 0.07 0.0035 0.06 0.03 0.0763 0.075 0.61 T 0.002 B 0.004 B 0.355 N 0.999 N 0.49 N 1.54 T -1.010 T 0.003 T 0.076 -0.471 1.828 -1.54 -0.341 0.654 9.503 -0.470613 NA 0.97 0.074785 0.039946 NA 0.022 NA 7.1076484 949 4 178274750 178274750 C T exonic NEIL3 NA nonsynonymous SNV NEIL3:NM_018248:exon8:c.C1328T:p.P443L exonic ENSG00000109674 NA nonsynonymous SNV ENSG00000109674:ENST00000264596:exon8:c.C1328T:p.P443L NA NA 4q34.3 NA NA NA NA rs13112358 0.63 0.63 0.621 0.608826 0.7744 0.376 0.634 0.671 0.5767 0.77 0.38 0.7 0.64 0.6899 0.77 0.75 T 0.0 B 0.001 B 0.822 N 1.000 P -0.37 N 3.84 T -1.000 T 0.000 T 0.007 -1.113 0.132 -4.99 -1.227 -0.514 16.941 -1.112783 NA 0.67 0.76314 0.697004 NA 0.681 NA 7.1058934 949 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 949 7 73932560 73932560 A G exonic GTF2IRD1 NA synonymous SNV GTF2IRD1:NM_001199207:exon5:c.A609G:p.E203E,GTF2IRD1:NM_005685:exon5:c.A513G:p.E171E,GTF2IRD1:NM_016328:exon5:c.A513G:p.E171E exonic ENSG00000006704 NA synonymous SNV ENSG00000006704:ENST00000265755:exon5:c.A513G:p.E171E,ENSG00000006704:ENST00000424337:exon5:c.A513G:p.E171E,ENSG00000006704:ENST00000455841:exon5:c.A609G:p.E203E,ENSG00000006704:ENST00000476977:exon5:c.A513G:p.E171E Score=514;Name=lod=163 NA 7q11.23 Score=769;Name=V$NRSF_01 NA NA NA rs17851629 0.23 0.23 0.217 0.236821 0.16 0.0952 0.196 0.4682 0.1779 0.16 0.11 0.21 0.5 0.2026 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.35318 1.35318 NA 0.198488 0.406861 NA 0.203 NA 7.1055786 949 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 950 1 204379452 204379452 T C exonic PPP1R15B NA nonsynonymous SNV PPP1R15B:NM_032833:exon1:c.A1088G:p.E363G exonic ENSG00000158615 NA nonsynonymous SNV ENSG00000158615:ENST00000367188:exon1:c.A1088G:p.E363G NA NA 1q32.1 NA NA NA NA rs2089891 0.05 0.05 0.033 0.0463259 0.0924 NA 0.0346 0.0575 0.0399 0.08 NA 0.05 0.05 0.0626 0.08 0.2 T 0.002 B 0.007 B 0.844 N 1.000 N 1.5 L 2.11 T -1.003 T 0.003 T 0.059 1.755 11.83 -0.117 0.007 0.043 4.053 1.754641 1.754641 0.09 0.073971 0.05379 NA 0.058 NA 7.1043624 950 4 95170839 95170839 G A exonic SMARCAD1 NA nonsynonymous SNV SMARCAD1:NM_001128429:exon7:c.G740A:p.S247N,SMARCAD1:NM_001128430:exon7:c.G740A:p.S247N,SMARCAD1:NM_020159:exon7:c.G740A:p.S247N exonic ENSG00000163104 NA nonsynonymous SNV ENSG00000163104:ENST00000354268:exon7:c.G740A:p.S247N,ENSG00000163104:ENST00000359052:exon7:c.G740A:p.S247N,ENSG00000163104:ENST00000457823:exon7:c.G740A:p.S247N Score=480;Name=lod=119 NA 4q22.3 NA NA NA NA rs11722476 0.45 0.45 0.412 0.461462 0.3837 0.7024 0.5447 0.2012 0.5859 0.39 0.72 0.49 0.2 0.456 0.72 0.5 T 0.0 B 0.0 B 0.526 N 0.038 P 0.69 N 3.46 T -1.049 T 0.000 T 0.008 1.021 9.17 0.199 0.069 0.160 2.208 1.020885 NA 0.4 0.390247 0.243078 ID=COSM1130990;OCCURENCE=1(prostate) 0.348 NA 7.1033864 950 1 29630455 29630455 C T exonic PTPRU NA synonymous SNV PTPRU:NM_001195001:exon16:c.C2565T:p.Y855Y,PTPRU:NM_133177:exon16:c.C2565T:p.Y855Y,PTPRU:NM_133178:exon16:c.C2565T:p.Y855Y,PTPRU:NM_005704:exon17:c.C2595T:p.Y865Y exonic ENSG00000060656 NA synonymous SNV ENSG00000060656:ENST00000323874:exon16:c.C2565T:p.Y855Y,ENSG00000060656:ENST00000356870:exon16:c.C2565T:p.Y855Y,ENSG00000060656:ENST00000373779:exon16:c.C2565T:p.Y855Y,ENSG00000060656:ENST00000428026:exon16:c.C2565T:p.Y855Y,ENSG00000060656:ENST00000460170:exon16:c.C2565T:p.Y855Y,ENSG00000060656:ENST00000345512:exon17:c.C2595T:p.Y865Y Score=560;Name=lod=252 NA 1p35.3 NA Name=PAX5-C20 NA NA rs2295061 0.35 0.35 0.312 0.3752 0.1581 0.6419 0.3329 0.3533 0.3834 0.16 0.66 0.3 0.33 0.2631 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 1.022182 NA NA 0.142326 0.318202 NA 0.246 NA 7.1031406 950 9 134136248 134136248 G A exonic FAM78A NA synonymous SNV FAM78A:NM_033387:exon2:c.C813T:p.Y271Y exonic ENSG00000126882 NA synonymous SNV ENSG00000126882:ENST00000372271:exon2:c.C813T:p.Y271Y,ENSG00000126882:ENST00000372269:exon4:c.C804T:p.Y268Y,ENSG00000126882:ENST00000464831:exon4:c.C720T:p.Y240Y Score=648;Name=lod=575 NA 9q34.13 Score=952;Name=V$MSX1_01 NA NA NA rs9966 0.09 0.09 0.057 0.0866613 0.1879 0.0129 0.0951 0.0182 0.1452 0.18 0.01 0.1 0.02 0.1595 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.662327 NA NA 0.216163 0.055833 NA 0.029 NA 7.1031036 950 3 13361391 13361391 A G exonic NUP210 NA nonsynonymous SNV NUP210:NM_024923:exon37:c.T5255C:p.L1752S exonic ENSG00000132182 NA nonsynonymous SNV ENSG00000132182:ENST00000254508:exon37:c.T5255C:p.L1752S NA NA 3p25.1 NA NA NA NA rs354479 0.87 0.87 0.875 0.890775 0.7326 0.9871 0.8501 0.966 0.8814 0.75 0.98 0.82 0.97 0.7872 0.98 0.4 T 0.0 B 0.0 B 0.002 N 1.000 P -0.975 N 3.48 T -0.983 T 0.000 T 0.094 0.201 5.083 4.69 0.707 3.922 11.569 0.201028 NA 0.29 0.710814 0.937358 NA 0.659 NA 7.1027194 950 14 77492891 77492891 G A exonic IRF2BPL NA synonymous SNV IRF2BPL:NM_024496:exon1:c.C1245T:p.Y415Y exonic ENSG00000119669 NA synonymous SNV ENSG00000119669:ENST00000238647:exon1:c.C1245T:p.Y415Y Score=673;Name=lod=726 NA 14q24.3 NA Name=Pol2,c-Myc Name=112 NA rs879027 0.43 0.43 0.424 0.381989 0.5497 0.5238 0.379 0.0946 0.454 0.56 0.56 0.38 0.12 0.478 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.359669 1.359669 NA 0.536744 0.194281 NA 0.37 NA 7.1022226 950 18 29795101 29795101 T C exonic MEP1B NA nonsynonymous SNV MEP1B:NM_005925:exon12:c.T1636C:p.S546P exonic ENSG00000141434 NA nonsynonymous SNV ENSG00000141434:ENST00000269202:exon12:c.T1636C:p.S546P,ENSG00000141434:ENST00000581447:exon12:c.T1636C:p.S546P Score=432;Name=lod=76 NA 18q12.1 NA NA NA NA rs233223 0.84 0.84 0.84 0.83147 0.7425 0.995 0.8372 0.8238 0.7607 0.74 1 0.82 0.85 0.77 1 0.42 T 0.0 B 0.0 B 0.000 N 0.000 P -2.105 N 2.11 T -0.965 T 0.000 T 0.075 0.617 7.323 4.14 0.388 -0.020 9.116 0.617371 NA 0.85 0.718765 0.813587 NA 0.696 NA 7.1020684 950 5 140480355 140480355 A G exonic PCDHB3 NA nonsynonymous SNV PCDHB3:NM_018937:exon1:c.A122G:p.K41R exonic ENSG00000113205 NA nonsynonymous SNV ENSG00000113205:ENST00000231130:exon1:c.A122G:p.K41R NA NA 5q31.3 NA NA NA NA rs31849 0.08 0.08 0.087 0.0966454 0.0716 0.0784 0.0461 0.1445 0.1125 0.07 0.08 0.04 0.13 0.0844 0.13 0.51 T 0.0 B 0.002 B . . 1.000 P 0.21 N 1.65 T -0.978 T 0.000 T 0.027 -1.419 0.021 0.805 -0.321 -0.863 7.406 -1.418563 NA 0.67 0.075698 0.130731 NA 0.065 NA 7.1016354 950 21 28216595 28216595 C G exonic ADAMTS1 NA nonsynonymous SNV ADAMTS1:NM_006988:exon1:c.G679C:p.A227P exonic ENSG00000154734 NA nonsynonymous SNV ENSG00000154734:ENST00000284984:exon1:c.G679C:p.A227P NA NA 21q21.3 NA Name=E2F6,CTCF,USF1_(SC-8983),Pol2,AP-2alpha,AP-2gamma Name=81 NA rs428785 0.66 0.66 0.69 0.689097 0.7386 0.4484 0.4928 0.9297 0.7004 0.74 0.43 0.51 0.92 0.7246 0.92 0.26 T 0.0 B 0.001 B . . 1.000 P 0 N 0.02 T -1.037 T 0.000 T 0.103 1.694 11.62 -0.151 -0.253 -0.072 4.101 1.694081 1.694081 0.27 0.768622 0.891265 ID=COSM444321;OCCURENCE=1(breast) 0.623 NA 7.1015114 950 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=Pol2-4H8,Ini1,Pol2,ZNF263,BAF155,CTCFL_(SC-98982),Pol2(b),Sin3Ak-20 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 950 5 140474756 140474756 G A exonic PCDHB2 NA nonsynonymous SNV PCDHB2:NM_018936:exon1:c.G382A:p.V128I exonic ENSG00000112852 NA nonsynonymous SNV ENSG00000112852:ENST00000194155:exon1:c.G382A:p.V128I NA NA 5q31.3 NA NA NA NA rs31853 0.08 0.08 0.087 0.0970447 0.0716 0.0784 0.0461 0.146 0.1125 0.07 0.08 0.04 0.13 0.0845 0.13 1 T 0.0 B 0.0 B . . 1.000 P -1.65 N -0.03 T -1.029 T 0.001 T 0.047 -2.502 0.003 1.33 0.045 -0.226 9.085 -2.502456 NA 1 0.075814 0.132834 NA 0.065 NA 7.1014194 950 17 3480447 3480447 T C exonic TRPV1 NA nonsynonymous SNV TRPV1:NM_080706:exon11:c.A1753G:p.I585V,TRPV1:NM_018727:exon12:c.A1753G:p.I585V,TRPV1:NM_080705:exon12:c.A1753G:p.I585V,TRPV1:NM_080704:exon13:c.A1753G:p.I585V exonic ENSG00000196689,ENSG00000262304 NA nonsynonymous SNV ENSG00000196689:ENST00000310522:exon10:c.A1573G:p.I525V,ENSG00000196689:ENST00000174621:exon11:c.A1747G:p.I583V,ENSG00000196689:ENST00000399756:exon11:c.A1753G:p.I585V,ENSG00000196689:ENST00000576351:exon11:c.A1723G:p.I575V,ENSG00000196689:ENST00000399759:exon12:c.A1753G:p.I585V,ENSG00000196689:ENST00000425167:exon12:c.A1786G:p.I596V,ENSG00000196689:ENST00000571088:exon12:c.A1753G:p.I585V,ENSG00000262304:ENST00000572705:exon13:c.A1753G:p.I585V NA NA 17p13.2 NA NA NA NA rs8065080 0.39 0.39 0.369 0.317692 0.4085 0.5883 0.3343 0.1067 0.2188 0.42 0.6 0.39 0.11 0.4522 0.6 0.2 T 0.002 B 0.001 B 0.412 N 1.000 P -0.345 N -2.04 D -0.914 T 0.000 T 0.202 -0.552 1.501 -1.93 -0.324 -0.245 10.197 -0.552161 NA 0.29 0.372062 0.152324 NA 0.261 NA 7.1005714 950 14 23549785 23549785 T C exonic ACIN1 NA nonsynonymous SNV ACIN1:NM_001164815:exon5:c.A813G:p.I271M,ACIN1:NM_001164814:exon6:c.A933G:p.I311M,ACIN1:NM_014977:exon6:c.A933G:p.I311M exonic ENSG00000100813 NA nonsynonymous SNV ENSG00000100813:ENST00000457657:exon5:c.A813G:p.I271M,ENSG00000100813:ENST00000262710:exon6:c.A933G:p.I311M,ENSG00000100813:ENST00000555053:exon6:c.A933G:p.I311M,ENSG00000100813:ENST00000605057:exon6:c.A759G:p.I253M NA NA 14q11.2 NA NA NA NA rs3811182 0.45 0.45 0.485 0.500799 0.3777 0.4554 0.3689 0.6914 0.5102 0.36 0.45 0.38 0.65 0.4434 0.65 0.25 T 0.001 B 0.002 B 0.635 N 1.000 P -0.55 N 2.34 T -1.013 T 0.000 T 0.041 -3.379 0.001 0.113 -0.194 -3.042 3.209 -3.379418 NA 1 0.411977 0.651158 NA 0.5 NA 7.1002564 950 12 131620588 131620588 A G exonic GPR133 NA synonymous SNV GPR133:NM_198827:exon22:c.A2274G:p.T758T exonic ENSG00000111452 NA synonymous SNV ENSG00000111452:ENST00000543617:exon9:c.A831G:p.T277T,ENSG00000111452:ENST00000376682:exon14:c.A1332G:p.T444T,ENSG00000111452:ENST00000261654:exon22:c.A2274G:p.T758T,ENSG00000111452:ENST00000535015:exon23:c.A2370G:p.T790T NA NA 12q24.33 NA NA NA NA rs868158 0.66 0.66 0.723 0.669928 0.8917 0.4286 0.6484 0.705 0.6585 0.84 0.4 0.67 0.67 0.7763 0.9 . . . . . . . . 0.005 P . . . . -0.991 T 0.000 T . -1.186 0.08 -9.2 -6.446 -3.602 7.232 -1.186212 NA NA 0.899186 0.74739 ID=COSM1360129;OCCURENCE=1(large_intestine) 0.783 NA 7.0994806 950 19 48807367 48807367 C A exonic CCDC114 NA synonymous SNV CCDC114:NM_144577:exon7:c.G585T:p.L195L exonic ENSG00000105479 NA synonymous SNV ENSG00000105479:ENST00000315396:exon7:c.G585T:p.L195L Score=432;Name=lod=76 NA 19q13.33 NA Name=RXRA NA NA rs28582401 0.17 0.17 0.146 0.153954 0.1988 0.124 0.0965 0.1422 0.1953 0.21 0.14 0.12 0.17 0.1839 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.250165 1.250165 NA 0.184767 0.168861 NA 0.181 NA 7.0991996 950 2 136511817 136511817 A G exonic UBXN4 NA synonymous SNV UBXN4:NM_014607:exon4:c.A303G:p.E101E exonic ENSG00000144224 NA synonymous SNV ENSG00000144224:ENST00000272638:exon4:c.A303G:p.E101E Score=647;Name=lod=570 NA 2q21.3 Score=866;Name=V$RORA1_01 NA NA NA rs1050115 0.2 0.2 0.198 0.201478 0.2137 0.1935 0.2061 0.174 0.2311 0.21 0.18 0.23 0.2 0.1846 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.406335 1.406335 NA 0.169372 0.135313 ID=COSM1129561;OCCURENCE=1(prostate) 0.174 NA 7.0989946 950 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 950 17 53076799 53076799 G A exonic STXBP4 NA nonsynonymous SNV STXBP4:NM_178509:exon5:c.G274A:p.G92R exonic ENSG00000166263 NA nonsynonymous SNV ENSG00000166263:ENST00000398391:exon4:c.G43A:p.G15R,ENSG00000166263:ENST00000405898:exon4:c.G274A:p.G92R,ENSG00000166263:ENST00000299341:exon5:c.G43A:p.G15R,ENSG00000166263:ENST00000376352:exon5:c.G274A:p.G92R,ENSG00000166263:ENST00000434978:exon5:c.G274A:p.G92R NA NA 17q22 NA NA NA NA rs1156287 0.85 0.85 0.864 0.852436 0.7386 0.8958 0.8516 0.941 0.8057 0.74 0.9 0.85 0.95 0.7803 0.95 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.985 N 2.3 T -0.968 T 0.000 T 0.106 -2.066 0.006 3.56 0.477 1.996 6.388 -2.065508 NA 0.98 0.716744 0.906037 NA 0.826 NA 7.0976894 950 20 62607160 62607160 C T exonic SAMD10 NA synonymous SNV SAMD10:NM_080621:exon4:c.G471A:p.A157A exonic ENSG00000130590 NA synonymous SNV ENSG00000130590:ENST00000369886:exon4:c.G471A:p.A157A Score=528;Name=lod=186 NA 20q13.33 NA NA Name=4 NA rs817343 0.2 0.2 0.217 0.259784 0.1769 0.0456 0.17 0.469 0.3466 0.17 0.05 0.15 0.44 0.2222 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.161375 NA NA 0.169977 0.416857 ID=COSM444243;OCCURENCE=1(breast),1(large_intestine) 0.275 NA 7.0975896 950 20 45853037 45853037 A G exonic ZMYND8 NA synonymous SNV ZMYND8:NM_012408:exon19:c.T3051C:p.T1017T,ZMYND8:NM_183047:exon19:c.T3051C:p.T1017T,ZMYND8:NM_183048:exon19:c.T2976C:p.T992T exonic ENSG00000101040 NA synonymous SNV ENSG00000101040:ENST00000372023:exon18:c.T2895C:p.T965T,ENSG00000101040:ENST00000446994:exon18:c.T2802C:p.T934T,ENSG00000101040:ENST00000458360:exon18:c.T2733C:p.T911T,ENSG00000101040:ENST00000540497:exon18:c.T2973C:p.T991T,ENSG00000101040:ENST00000311275:exon19:c.T3129C:p.T1043T,ENSG00000101040:ENST00000352431:exon19:c.T3051C:p.T1017T,ENSG00000101040:ENST00000360911:exon19:c.T2976C:p.T992T,ENSG00000101040:ENST00000461685:exon19:c.T3051C:p.T1017T,ENSG00000101040:ENST00000471951:exon19:c.T3189C:p.T1063T,ENSG00000101040:ENST00000536340:exon19:c.T3210C:p.T1070T,ENSG00000101040:ENST00000262975:exon20:c.T2991C:p.T997T,ENSG00000101040:ENST00000355972:exon20:c.T3129C:p.T1043T,ENSG00000101040:ENST00000396281:exon21:c.T3129C:p.T1043T Score=693;Name=lod=875 NA 20q13.12 NA NA Name=3 NA rs2664544 0.9 0.9 0.908 0.896366 0.8469 0.9435 0.8818 0.9554 0.8292 0.85 0.93 0.9 0.97 0.8668 0.97 . . . . . . . . 0.000 P . . . . . . . . . 0.932 8.798 3.44 0.650 0.687 3.407 0.932253 NA NA 0.855814 0.928053 NA 0.92 NA 7.0971526 950 17 77078109 77078109 A G exonic ENGASE NA synonymous SNV ENGASE:NM_001042573:exon7:c.A1002G:p.R334R exonic ENSG00000167280 NA synonymous SNV ENSG00000167280:ENST00000539857:exon6:c.A444G:p.R148R,ENSG00000167280:ENST00000579016:exon7:c.A1002G:p.R334R NA NA 17q25.3 Score=851;Name=V$ARNT_01 Name=Egr-1 NA NA rs1317421 0.29 0.29 0.314 0.334665 0.175 0.3026 0.2248 0.5711 0.2904 0.17 0.28 0.24 0.51 0.2221 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020821 NA NA 0.172556 0.45711 NA 0.225 NA 7.0970106 950 20 36974945 36974945 C T exonic LBP NA nonsynonymous SNV LBP:NM_004139:exon1:c.C26T:p.P9L exonic ENSG00000129988 NA nonsynonymous SNV ENSG00000129988:ENST00000217407:exon1:c.C26T:p.P9L NA NA 20q11.23 NA NA NA NA rs2232580 0.06 0.06 0.066 0.0642971 0.0785 0.0675 0.0346 0.0272 0.1176 0.09 0.05 0.04 0.03 0.0778 0.09 0.73 T 0.002 B 0.001 B 0.449 N 1.000 P -0.145 N 3.52 T -0.941 T 0.000 T 0.034 0.913 8.714 1.32 0.130 -0.576 5.794 0.912704 NA 0.28 0.081512 0.040399 NA 0.058 NA 7.0955214 950 11 86267633 86267633 C T exonic ME3 NA synonymous SNV ME3:NM_001014811:exon3:c.G429A:p.L143L,ME3:NM_001161586:exon4:c.G429A:p.L143L,ME3:NM_006680:exon4:c.G429A:p.L143L exonic ENSG00000151376 NA synonymous SNV ENSG00000151376:ENST00000323418:exon2:c.G243A:p.L81L,ENSG00000151376:ENST00000393324:exon3:c.G429A:p.L143L,ENSG00000151376:ENST00000359636:exon4:c.G429A:p.L143L,ENSG00000151376:ENST00000524826:exon4:c.G429A:p.L143L,ENSG00000151376:ENST00000526504:exon4:c.G429A:p.L143L,ENSG00000151376:ENST00000530335:exon4:c.G429A:p.L143L,ENSG00000151376:ENST00000543262:exon4:c.G429A:p.L143L Score=529;Name=lod=188 NA 11q14.2 Score=911;Name=V$MEIS1_01 NA NA NA rs17211115 0.29 0.29 0.242 0.275559 0.1799 0.5317 0.3487 0.1921 0.1708 0.18 0.52 0.3 0.19 0.2231 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.370613 1.370613 NA 0.168411 0.185967 NA 0.232 NA 7.0952556 950 13 41382711 41382711 A T exonic SLC25A15 NA nonsynonymous SNV SLC25A15:NM_014252:exon6:c.A760T:p.I254L exonic ENSG00000102743 NA nonsynonymous SNV ENSG00000102743:ENST00000338625:exon6:c.A760T:p.I254L NA NA 13q14.11 NA NA NA NA rs17849654 0.35 0.35 0.302 0.322684 0.4523 0.377 0.4078 0.174 0.274 0.46 0.31 0.41 0.2 0.3725 0.46 . . 0.0 B 0.003 B 0.116 N 1.000 P -0.22 N -1.17 T -0.955 T 0.000 T 0.076 -1.776 0.01 0.251 -0.220 1.349 5.975 -1.776196 NA 1 0.413372 0.203359 NA 0.333 NA 7.0951614 951 11 86267714 86267714 C A exonic ME3 NA synonymous SNV ME3:NM_001014811:exon3:c.G348T:p.R116R,ME3:NM_001161586:exon4:c.G348T:p.R116R,ME3:NM_006680:exon4:c.G348T:p.R116R exonic ENSG00000151376 NA synonymous SNV ENSG00000151376:ENST00000323418:exon2:c.G162T:p.R54R,ENSG00000151376:ENST00000393324:exon3:c.G348T:p.R116R,ENSG00000151376:ENST00000359636:exon4:c.G348T:p.R116R,ENSG00000151376:ENST00000524826:exon4:c.G348T:p.R116R,ENSG00000151376:ENST00000526504:exon4:c.G348T:p.R116R,ENSG00000151376:ENST00000530335:exon4:c.G348T:p.R116R,ENSG00000151376:ENST00000543262:exon4:c.G348T:p.R116R Score=510;Name=lod=158 NA 11q14.2 Score=828;Name=V$MRF2_01 NA NA NA rs12287767 0.29 0.29 0.248 0.276158 0.1799 0.5327 0.3487 0.1921 0.1728 0.18 0.52 0.3 0.19 0.2237 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.392052 1.392052 NA 0.168528 0.185967 NA 0.232 NA 7.0945386 951 16 5140541 5140541 G C exonic FAM86A NA nonsynonymous SNV FAM86A:NM_201598:exon4:c.C266G:p.S89C,FAM86A:NM_201400:exon5:c.C368G:p.S123C exonic ENSG00000118894 NA nonsynonymous SNV ENSG00000118894:ENST00000587133:exon3:c.C185G:p.S62C,ENSG00000118894:ENST00000458008:exon4:c.C266G:p.S89C,ENSG00000118894:ENST00000427587:exon5:c.C368G:p.S123C NA NA 16p13.3 NA NA NA NA rs9673733 0.1 0.1 0.09 0.10024 0.0736 0.1339 0.147 0.0779 0.09 0.09 0.15 0.14 0.06 0.0951 0.15 0.1 T 0.013 B 0.033 B 0.981 N 1.000 P 1.42 L 4.0 T -0.999 T 0.000 T 0.063 0.143 4.769 1.83 0.258 0.342 15.082 0.142952 NA 0.19 0.072326 0.077606 NA 0.072 NA 7.0923074 951 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 951 7 6026988 6026988 G A exonic PMS2 NA nonsynonymous SNV PMS2:NM_000535:exon11:c.C1408T:p.P470S exonic ENSG00000122512 NA nonsynonymous SNV ENSG00000122512:ENST00000441476:exon8:c.C1090T:p.P364S,ENSG00000122512:ENST00000265849:exon11:c.C1408T:p.P470S,ENSG00000122512:ENST00000406569:exon11:c.C1408T:p.P470S NA NA 7p22.1 NA NA NA NA rs1805321 0.39 0.39 0.369 0.358227 0.4374 0.3601 0.428 0.2723 0.3415 0.44 0.39 0.42 0.3 0.3854 0.44 0.74 T 0.018 B 0.005 B 0.008 N 1.000 P 0.14 N 1.14 T -1.002 T 0.000 T 0.333 -0.482 1.779 0.572 0.386 0.265 2.335 -0.482327 NA 0.46 0.42093 0.281888 NA 0.29 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_provided|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=exp|single|single|single;CLNACC=RCV000030364.2|RCV000034614.1|RCV000079103.2|RCV000130721.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|.|.|MedGen;CLNDSDBID=NBK1211:C0009405:315058005|.|.|C0027672 7.0896034 951 17 17425631 17425631 C T exonic PEMT NA nonsynonymous SNV PEMT:NM_001267551:exon3:c.G217A:p.V73I,PEMT:NM_001267552:exon3:c.G283A:p.V95I,PEMT:NM_007169:exon3:c.G172A:p.V58I,PEMT:NM_148172:exon3:c.G283A:p.V95I,PEMT:NM_148173:exon3:c.G172A:p.V58I exonic ENSG00000133027 NA nonsynonymous SNV ENSG00000133027:ENST00000255389:exon3:c.G283A:p.V95I,ENSG00000133027:ENST00000395781:exon3:c.G283A:p.V95I,ENSG00000133027:ENST00000395782:exon3:c.G172A:p.V58I,ENSG00000133027:ENST00000395783:exon3:c.G172A:p.V58I,ENSG00000133027:ENST00000435340:exon3:c.G217A:p.V73I NA NA 17p11.2 NA NA NA NA rs897453 0.25 0.25 0.224 0.198882 0.4513 0.0952 0.2767 0.0635 0.1738 0.45 0.09 0.32 0.06 0.3426 0.45 0.58 T 0.003 B 0.002 B 0.305 N 1.000 P 0.12 N 2.43 T -0.926 T 0.000 T 0.042 -0.447 1.927 -5.06 -0.796 -0.039 4.338 -0.446896 NA 0.54 0.450814 0.130277 NA 0.225 NA 7.0886194 951 22 50582550 50582550 C A exonic MOV10L1 NA synonymous SNV MOV10L1:NM_001164104:exon18:c.C2383A:p.R795R,MOV10L1:NM_001164105:exon18:c.C2323A:p.R775R,MOV10L1:NM_018995:exon18:c.C2383A:p.R795R exonic ENSG00000073146 NA synonymous SNV ENSG00000073146:ENST00000262794:exon18:c.C2383A:p.R795R,ENSG00000073146:ENST00000395858:exon18:c.C2383A:p.R795R,ENSG00000073146:ENST00000540615:exon18:c.C2323A:p.R775R,ENSG00000073146:ENST00000545383:exon19:c.C2383A:p.R795R Score=374;Name=lod=44 NA 22q13.33 NA Name=CTCF_(SC-5916),E2F6_(H-50),CTCF NA NA rs2272836 0.22 0.22 0.19 0.227636 0.167 0.2431 0.3674 0.1316 0.3047 0.17 0.3 0.33 0.11 0.2297 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.42861 1.42861 NA 0.182326 0.155016 NA 0.167 NA 7.0876406 951 10 3150898 3150898 C T exonic PFKP NA synonymous SNV PFKP:NM_002627:exon9:c.C876T:p.V292V,PFKP:NM_001242339:exon11:c.C852T:p.V284V exonic ENSG00000067057 NA synonymous SNV ENSG00000067057:ENST00000415005:exon4:c.C228T:p.V76V,ENSG00000067057:ENST00000381125:exon9:c.C876T:p.V292V,ENSG00000067057:ENST00000381075:exon11:c.C852T:p.V284V Score=407;Name=lod=60 NA 10p15.2 NA Name=Pol2 NA NA rs11251721 0.16 0.16 0.16 0.138179 0.2018 0.0536 0.2075 0.1543 0.089 0.21 0.06 0.23 0.18 0.1771 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.642383 NA NA 0.201279 0.159782 NA 0.087 NA 7.0864876 951 2 223161889 223161889 A G exonic PAX3 NA synonymous SNV PAX3:NM_000438:exon2:c.T129C:p.G43G,PAX3:NM_001127366:exon2:c.T129C:p.G43G,PAX3:NM_013942:exon2:c.T129C:p.G43G,PAX3:NM_181457:exon2:c.T129C:p.G43G,PAX3:NM_181458:exon2:c.T129C:p.G43G,PAX3:NM_181459:exon2:c.T129C:p.G43G,PAX3:NM_181460:exon2:c.T129C:p.G43G,PAX3:NM_181461:exon2:c.T129C:p.G43G exonic ENSG00000135903 NA synonymous SNV ENSG00000135903:ENST00000258387:exon2:c.T129C:p.G43G,ENSG00000135903:ENST00000336840:exon2:c.T129C:p.G43G,ENSG00000135903:ENST00000344493:exon2:c.T129C:p.G43G,ENSG00000135903:ENST00000350526:exon2:c.T129C:p.G43G,ENSG00000135903:ENST00000392069:exon2:c.T129C:p.G43G,ENSG00000135903:ENST00000392070:exon2:c.T129C:p.G43G,ENSG00000135903:ENST00000409551:exon2:c.T129C:p.G43G,ENSG00000135903:ENST00000409828:exon2:c.T129C:p.G43G Score=346;Name=lod=34 NA 2q36.1 Score=728;Name=V$PAX4_04 Name=SUZ12 Name=25 NA rs12623857 0.89 0.89 0.898 0.904353 0.8459 0.998 0.9063 0.8351 0.9601 0.85 1 0.9 0.82 0.8872 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.452476 1.452476 NA 0.847381 0.844859 NA 0.877 NA 7.0861856 951 19 49469087 49469087 T C exonic FTL NA synonymous SNV FTL:NM_000146:exon2:c.T163C:p.L55L exonic ENSG00000087086 NA synonymous SNV ENSG00000087086:ENST00000331825:exon2:c.T163C:p.L55L NA NA 19q13.33 Score=886;Name=V$NFY_01 Name=Pol2,CTCF_(SC-5916),Pol2-4H8,Sin3Ak-20,BAF170 Name=77 NA rs2230267 0.5 0.5 0.482 0.460663 0.5398 0.4246 0.5 0.4849 0.3558 0.5 0.45 0.55 0.5 0.4979 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.780086 1.780086 NA 0.542907 0.473899 NA 0.63 NA 7.0860596 951 8 82727569 82727569 T C exonic SNX16 NA synonymous SNV SNX16:NM_152837:exon4:c.A585G:p.E195E,SNX16:NM_152836:exon5:c.A672G:p.E224E,SNX16:NM_022133:exon6:c.A672G:p.E224E exonic ENSG00000104497 NA synonymous SNV ENSG00000104497:ENST00000353788:exon4:c.A585G:p.E195E,ENSG00000104497:ENST00000345957:exon5:c.A672G:p.E224E,ENSG00000104497:ENST00000396330:exon6:c.A672G:p.E224E Score=644;Name=lod=550 NA 8q21.13 Score=831;Name=V$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 951 19 9213132 9213132 A G exonic OR7G2 NA nonsynonymous SNV OR7G2:NM_001005193:exon1:c.T851C:p.V284A exonic ENSG00000170923 NA nonsynonymous SNV ENSG00000170923:ENST00000305456:exon1:c.T851C:p.V284A NA NA 19p13.2 NA NA NA NA rs12610094 0.4 0.4 0.39 0.404553 0.4245 0.5903 0.3588 0.2057 0.4939 0.42 0.59 0.34 0.21 0.4079 0.59 1 T 0.0 B 0.0 B 0.977 N 1.000 P -2.11 N 8.84 T -0.939 T 0.000 T 0.046 -1.586 0.014 -0.483 -0.196 -1.935 4.774 -1.585771 NA 1 0.415814 0.232864 NA 0.406 NA 7.0851194 952 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=HEY1,Pol2-4H8,TAF1,CTCF,TAF7_(SQ-8),Pol2,Pol2(b),NRSF 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 952 19 1053524 1053524 C G exonic ABCA7 NA synonymous SNV ABCA7:NM_019112:exon24:c.C3417G:p.L1139L exonic ENSG00000064687 NA synonymous SNV ENSG00000064687:ENST00000435683:exon18:c.C3003G:p.L1001L,ENSG00000064687:ENST00000433129:exon23:c.C3417G:p.L1139L,ENSG00000064687:ENST00000263094:exon24:c.C3417G:p.L1139L Score=499;Name=lod=142 NA 19p13.3 NA Name=ZNF263 NA NA rs3752241 0.16 0.16 0.165 0.182708 0.173 0.1915 0.0821 0.1876 0.2485 0.19 0.16 0.09 0.18 0.2525 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 1.501629 1.501629 NA 0.156381 0.178604 NA 0.087 NA 7.0847856 952 11 76910766 76910766 C T exonic MYO7A NA synonymous SNV MYO7A:NM_000260:exon35:c.C4755T:p.S1585S,MYO7A:NM_001127180:exon35:c.C4641T:p.S1547S exonic ENSG00000137474 NA synonymous SNV ENSG00000137474:ENST00000458169:exon15:c.C2184T:p.S728S,ENSG00000137474:ENST00000409709:exon35:c.C4755T:p.S1585S,ENSG00000137474:ENST00000458637:exon35:c.C4641T:p.S1547S,ENSG00000137474:ENST00000409619:exon36:c.C4608T:p.S1536S Score=565;Name=lod=263 NA 11q13.5 Score=794;Name=V$PBX1_02 NA NA NA rs7927472 0.48 0.48 0.458 0.432508 0.5527 0.4494 0.5937 0.3185 0.3313 0.57 0.45 0.57 0.31 0.5083 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.250222 1.250222 NA 0.521548 0.324557 NA 0.442 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036162.1;CLNDSDB=.;CLNDSDBID=. 7.0841186 952 12 52635360 52635360 G A exonic KRT7 NA synonymous SNV KRT7:NM_005556:exon5:c.G798A:p.A266A exonic ENSG00000135480 NA synonymous SNV ENSG00000135480:ENST00000331817:exon5:c.G798A:p.A266A Score=385;Name=lod=49 NA 12q13.13 Score=823;Name=V$HNF4_01_B Name=CTCF_(SC-5916),CTCF 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 952 3 46007823 46007823 G T exonic FYCO1 NA nonsynonymous SNV FYCO1:NM_024513:exon8:c.C3003A:p.N1001K exonic ENSG00000163820 NA nonsynonymous SNV ENSG00000163820:ENST00000535325:exon7:c.C3003A:p.N1001K,ENSG00000163820:ENST00000296137:exon8:c.C3003A:p.N1001K NA NA 3p21.31 NA NA NA NA rs13079478 0.06 0.06 NA 0.105232 0.1223 0.004 0.0591 0.0053 0.3599 0.14 NA 0.05 0.01 0.1263 0.14 0.86 T 0.014 B 0.013 B 0.030 N 1.000 P 0.345 N -1.32 T -1.103 T 0.002 T 0.033 1.108 9.521 1.44 0.281 0.297 3.533 1.108394 NA 0.1 0.001395 0 NA NA NA 7.0833384 952 1 207890866 207890866 T C exonic CR1L NA nonsynonymous SNV CR1L:NM_175710:exon11:c.T1472C:p.L491P exonic ENSG00000197721 NA nonsynonymous SNV ENSG00000197721:ENST00000508064:exon11:c.T1472C:p.L491P NA NA 1q32.2 NA NA NA NA rs2796257 0.3 0.3 0.244 0.26897 0.4344 0.1171 0.5115 0.1362 0.2628 0.44 0.14 0.49 0.15 0.3834 0.49 0.24 T 0.907 P 0.808 P . . 1.000 P 1.835 L 1.89 T -0.939 T 0.000 T 0.103 1.042 9.255 -0.852 -0.041 0.293 2.840 1.041822 NA 0.21 0.432812 0.172507 NA 0.413 NA 7.0827214 952 18 3075746 3075746 G A exonic MYOM1 NA synonymous SNV MYOM1:NM_019856:exon34:c.C4374T:p.A1458A,MYOM1:NM_003803:exon35:c.C4662T:p.A1554A exonic ENSG00000101605 NA synonymous SNV ENSG00000101605:ENST00000261606:exon34:c.C4374T:p.A1458A,ENSG00000101605:ENST00000356443:exon35:c.C4662T:p.A1554A,ENSG00000101605:ENST00000400569:exon35:c.C4662T:p.A1554A Score=558;Name=lod=246 NA 18p11.31 NA NA Name=12 NA rs1143657 0.2 0.2 0.19 0.183506 0.2008 0.1875 0.183 0.1747 0.1738 0.21 0.2 0.16 0.2 0.2142 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63455 NA NA 0.169708 0.139925 ID=COSM148374;OCCURENCE=1(stomach),1(prostate) 0.116 NA 7.0819586 952 1 67390468 67390468 C G exonic WDR78 NA nonsynonymous SNV WDR78:NM_024763:exon1:c.G47C:p.G16A,WDR78:NM_207014:exon1:c.G47C:p.G16A exonic ENSG00000152763 NA nonsynonymous SNV ENSG00000152763:ENST00000371022:exon1:c.G47C:p.G16A,ENSG00000152763:ENST00000371023:exon1:c.G47C:p.G16A,ENSG00000152763:ENST00000371026:exon1:c.G47C:p.G16A,ENSG00000152763:ENST00000531980:exon1:c.G35C:p.G12A,ENSG00000152763:ENST00000532629:exon1:c.G35C:p.G12A NA NA 1p31.3 NA Name=Sin3Ak-20,Mxi1_(bHLH),SREBP1,E2F6,YY1_(C-20),Max,Pol2,SP1,IRF1,USF1_(SC-8983),EBF,CCNT2,TBP,Egr-1,HMGN3,YY1,c-Fos,NF-YB NA NA rs1886686 0.82 0.82 0.815 0.842652 0.7336 0.8829 0.8372 0.8608 0.8926 0.72 0.89 0.86 0.86 0.7859 0.89 1 T 0.0 B 0.0 B 0.700 N 0.999 P -0.69 N 1.87 T -0.993 T 0.018 T 0.048 0.664 7.558 2.2 0.377 0.927 4.406 0.664105 NA 0 0.731977 0.851339 NA 0.761 NA 7.0818564 952 15 40660566 40660566 G A exonic DISP2 NA synonymous SNV DISP2:NM_033510:exon8:c.G2253A:p.A751A exonic ENSG00000140323 NA synonymous SNV ENSG00000140323:ENST00000267889:exon8:c.G2253A:p.A751A NA NA 15q15.1 NA Name=HMGN3,Znf143_(16618-1-AP),Pol2-4H8,GABP,ELF1_(SC-631),p300,TCF12,E2F6,E2F6_(H-50),CTCF,CCNT2,TBP,Egr-1,AP-2gamma,AP-2alpha,SMC3_(ab9263),Max,YY1_(C-20),c-Myc,Rad21,SETDB1,eGFP-JunD,NRSF Name=143 NA rs72733420 0.12 0.12 0.103 0.108427 0.1968 0.0188 0.1354 0.087 0.1196 0.22 0.02 0.14 0.09 0.1764 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.690977 NA NA 0.212125 0.09618 ID=COSM433777;OCCURENCE=1(breast) 0.101 NA 7.0813416 952 1 117656088 117656088 A G exonic TRIM45 NA nonsynonymous SNV TRIM45:NM_001145635:exon5:c.T1433C:p.M478T,TRIM45:NM_025188:exon5:c.T1487C:p.M496T exonic ENSG00000134253 NA nonsynonymous SNV ENSG00000134253:ENST00000256649:exon5:c.T1487C:p.M496T,ENSG00000134253:ENST00000369464:exon5:c.T1433C:p.M478T,ENSG00000134253:ENST00000369461:exon6:c.T1316C:p.M439T NA NA 1p13.1 NA NA NA NA rs1289658 0.42 0.42 0.397 0.445088 0.4364 0.1865 0.4755 0.6793 0.3824 0.44 0.16 0.47 0.64 0.4145 0.64 0.85 T 0.0 B 0.0 B 0.096 N 1.000 P -1.155 N 2.08 T -0.960 T 0.009 T 0.335 -2.228 0.005 3.99 0.562 0.149 3.883 -2.228181 NA 1 0.401744 0.620064 NA 0.457 NA 7.0806894 952 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 952 3 19961330 19961330 C T exonic EFHB NA nonsynonymous SNV EFHB:NM_144715:exon3:c.G991A:p.V331I exonic ENSG00000163576 NA nonsynonymous SNV ENSG00000163576:ENST00000440022:exon2:c.G202A:p.V68I,ENSG00000163576:ENST00000295824:exon3:c.G991A:p.V331I,ENSG00000163576:ENST00000389256:exon3:c.G991A:p.V331I,ENSG00000163576:ENST00000344838:exon5:c.G601A:p.V201I NA NA 3p24.3 NA NA NA NA rs2931403 0.62 0.62 0.605 0.672524 0.7753 0.3353 0.6153 0.8805 0.6738 0.77 0.31 0.59 0.8 0.7198 0.83 . . 0.001 B 0.003 B 0.147 N 1.000 P -1.465 N 2.26 T -0.975 T 0.000 T 0.125 -0.753 0.808 -6.78 -1.412 -0.920 0.804 -0.75305 NA 1 0.758488 0.834015 NA 0.486 NA 7.0797454 952 4 87706506 87706506 T G exonic PTPN13 NA nonsynonymous SNV PTPN13:NM_080684:exon36:c.T5668G:p.Y1890D,PTPN13:NM_006264:exon38:c.T6184G:p.Y2062D,PTPN13:NM_080683:exon39:c.T6241G:p.Y2081D,PTPN13:NM_080685:exon39:c.T6256G:p.Y2086D exonic ENSG00000163629 NA nonsynonymous SNV ENSG00000163629:ENST00000316707:exon36:c.T5668G:p.Y1890D,ENSG00000163629:ENST00000427191:exon38:c.T6184G:p.Y2062D,ENSG00000163629:ENST00000511467:exon38:c.T6256G:p.Y2086D,ENSG00000163629:ENST00000411767:exon39:c.T6241G:p.Y2081D,ENSG00000163629:ENST00000436978:exon39:c.T6256G:p.Y2086D NA NA 4q21.3 NA NA NA NA rs989902 0.51 0.51 0.509 0.506589 0.4026 0.4454 0.464 0.8268 0.274 0.39 0.42 0.5 0.79 0.4316 0.79 0.39 T 0.0 B 0.0 B 0.605 N 0.999 P -1.59 N 0.88 T -0.985 T 0.000 T 0.018 -1.49 0.017 2.83 0.160 0.517 0.989 -1.489954 NA 0.29 0.41956 0.784361 NA 0.435 NA 7.0795734 952 10 108380213 108380213 G A exonic SORCS1 NA synonymous SNV SORCS1:NM_001013031:exon20:c.C2769T:p.Y923Y,SORCS1:NM_001206569:exon20:c.C2769T:p.Y923Y,SORCS1:NM_001206570:exon20:c.C2769T:p.Y923Y,SORCS1:NM_001206571:exon20:c.C2769T:p.Y923Y,SORCS1:NM_001206572:exon20:c.C2769T:p.Y923Y,SORCS1:NM_052918:exon20:c.C2769T:p.Y923Y exonic ENSG00000108018 NA synonymous SNV ENSG00000108018:ENST00000369698:exon12:c.C1374T:p.Y458Y,ENSG00000108018:ENST00000263054:exon20:c.C2769T:p.Y923Y,ENSG00000108018:ENST00000344440:exon20:c.C2769T:p.Y923Y Score=596;Name=lod=352 NA 10q25.1 Score=875;Name=V$MYCMAX_02 NA NA NA rs4917481 0.33 0.33 0.328 0.375998 0.171 0.5069 0.2435 0.4682 0.4213 0.18 0.5 0.27 0.42 0.2486 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.269667 NA NA 0.168605 0.427372 NA 0.326 NA 7.0784616 952 5 96237326 96237326 G A exonic ERAP2 NA synonymous SNV ERAP2:NM_001130140:exon11:c.G1689A:p.Q563Q,ERAP2:NM_022350:exon11:c.G1689A:p.Q563Q exonic ENSG00000164308 NA synonymous SNV ENSG00000164308:ENST00000379904:exon10:c.G1554A:p.Q518Q,ENSG00000164308:ENST00000437043:exon11:c.G1689A:p.Q563Q,ENSG00000164308:ENST00000510373:exon11:c.G1689A:p.Q563Q Score=389;Name=lod=51 NA 5q15 NA Name=SMC3_(ab9263),CTCF_(C-20),NFKB,CTCF_(SC-5916),CTCF Name=17 NA rs2287988 0.55 0.55 0.533 0.552915 0.5199 0.5278 0.5793 0.6021 0.5276 0.52 0.58 0.59 0.55 0.5478 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.921407 1.921407 NA 0.521395 0.579891 NA 0.659 NA 7.0775716 952 3 52256697 52256697 C T exonic TLR9 NA synonymous SNV TLR9:NM_017442:exon2:c.G1635A:p.P545P exonic ENSG00000173366,ENSG00000239732 NA synonymous SNV ENSG00000239732:ENST00000360658:exon2:c.G1635A:p.P545P,ENSG00000239732:ENST00000597542:exon9:c.G1707A:p.P569P NA NA 3p21.2 NA NA NA NA rs352140 0.46 0.46 0.449 0.415535 0.5457 0.3948 0.4986 0.2852 0.4202 0.54 0.44 0.52 0.31 0.4921 0.55 . . . . . . . . 0.999 P . . . . -0.998 T 0.000 T . -1.781 0.01 -11.1 -2.561 -7.630 3.615 -1.781057 NA NA 0.551744 0.345211 NA 0.413 NA 7.0771226 952 1 43632536 43632536 C T exonic EBNA1BP2 NA nonsynonymous SNV EBNA1BP2:NM_006824:exon7:c.G668A:p.R223H,EBNA1BP2:NM_001159936:exon8:c.G833A:p.R278H exonic ENSG00000117395 NA nonsynonymous SNV ENSG00000117395:ENST00000236051:exon7:c.G668A:p.R223H,ENSG00000117395:ENST00000431635:exon8:c.G833A:p.R278H NA NA 1p34.2 NA NA NA NA rs7163 0.17 0.17 0.157 0.141374 0.2883 NA 0.1513 0.1301 0.1442 0.31 NA 0.19 0.13 0.2105 0.31 0.13 T 0.864 P 0.357 B 0.256 N 1.000 P 1.15 L 0.94 T -1.067 T 0.000 T 0.072 1.006 9.108 -1.47 -0.204 0.097 1.375 1.005915 NA 0.12 0.257674 0.117567 NA 0.304 NA 7.0768594 952 17 60766224 60766224 A G exonic MRC2 NA synonymous SNV MRC2:NM_006039:exon23:c.A3237G:p.A1079A exonic ENSG00000011028 NA nonsynonymous SNV ENSG00000011028:ENST00000446119:exon5:c.A74G:p.Q25R NA NA 17q23.2 Score=884;Name=V$TAL1ALPHAE47_01 Name=RFX5_(N-494) NA NA rs2465430 0.91 0.91 0.904 0.877796 0.9861 0.9375 0.9683 0.7179 0.8569 0.99 0.94 0.97 0.73 0.9507 0.99 0.82 T 0.0 B 0.0 B . . 0.008 P . . 4.05 T -1.014 T 0.000 T . -0.567 1.443 -1.93 -0.680 -2.402 2.293 -0.567093 NA 0 0.986628 0.791648 NA 0.928 NA 7.076572 952 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 952 7 87913361 87913361 C T exonic STEAP4 NA nonsynonymous SNV STEAP4:NM_001205316:exon2:c.G224A:p.G75D,STEAP4:NM_024636:exon2:c.G224A:p.G75D,STEAP4:NM_001205315:exon3:c.G224A:p.G75D exonic ENSG00000127954 NA nonsynonymous SNV ENSG00000127954:ENST00000301959:exon2:c.G224A:p.G75D,ENSG00000127954:ENST00000380079:exon2:c.G224A:p.G75D,ENSG00000127954:ENST00000414498:exon3:c.G224A:p.G75D NA NA 7q21.12 NA NA NA NA rs1981529 0.84 0.84 0.861 0.851238 0.7346 0.9067 0.7752 0.9902 0.7802 0.73 0.9 0.77 0.99 0.7779 0.99 1 T 0.0 B 0.0 B 0.024 N 1.000 P -2.58 N 3.37 T -1.002 T 0.000 T 0.104 -1.433 0.02 4.76 0.494 1.025 7.326 -1.433075 NA 1 0.744561 0.943089 NA 0.913 NA 7.0762724 952 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 952 5 96249115 96249115 C T exonic ERAP2 NA synonymous SNV ERAP2:NM_001130140:exon17:c.C2611T:p.L871L,ERAP2:NM_022350:exon17:c.C2611T:p.L871L exonic ENSG00000164308 NA synonymous SNV ENSG00000164308:ENST00000379904:exon16:c.C2476T:p.L826L,ENSG00000164308:ENST00000437043:exon17:c.C2611T:p.L871L NA NA 5q15 NA NA NA NA rs2255546 0.55 0.55 0.544 0.552716 0.5199 0.5258 0.5807 0.6021 0.5276 0.52 0.58 0.59 0.55 0.5488 0.59 . . . . . . . . 1.000 P . . . . -0.973 T 0.000 T . -1.248 0.052 -3.71 -1.522 -0.599 8.993 -1.247794 NA NA 0.52186 0.580118 NA 0.659 NA 7.0761066 952 1 112298582 112298582 A G exonic DDX20 NA synonymous SNV DDX20:NM_007204:exon1:c.A36G:p.A12A exonic ENSG00000064703 NA synonymous SNV ENSG00000064703:ENST00000369702:exon1:c.A36G:p.A12A,ENSG00000064703:ENST00000536167:exon1:c.A36G:p.A12A,ENSG00000064703:ENST00000533164:exon2:c.A36G:p.A12A NA NA 1p13.2 NA Name=Pol2(b),TBP,YY1,BRCA1_(C-1863),GTF2F1_(RAP-74),JunD,Max,TCF4,ZBTB33,YY1_(C-20),c-Myc,Oct-2,Sin3Ak-20,E2F4,SIX5,ERalpha_a,Mxi1_(bHLH),ZEB1_(SC-25388),TAF1,IRF4_(M-17),NFKB,Pol2-4H8,KAP1,HEY1,Pol2,Pol2(phosphoS2),CHD2_(N-1250),TAF7_(SQ-8),E2F6,POU2F2,E2F6_(H-50) Name=148 NA rs197392 0.23 0.23 0.216 0.242412 0.1978 0.0367 0.147 0.5666 0.1299 0.2 0.04 0.14 0.55 0.205 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.045743 NA NA 0.187908 0.443492 ID=COSM423461;OCCURENCE=1(breast) 0.232 NA 7.0759586 952 17 7399866 7399866 G A exonic POLR2A NA synonymous SNV POLR2A:NM_000937:exon4:c.G471A:p.G157G exonic ENSG00000181222 NA synonymous SNV ENSG00000181222:ENST00000322644:exon4:c.G471A:p.G157G,ENSG00000181222:ENST00000572844:exon4:c.G471A:p.G157G Score=560;Name=lod=251 NA 17p13.1 NA NA Name=3 NA rs2301609 0.14 0.14 0.143 0.171526 0.1849 0.0278 0.0994 0.2186 0.2935 0.19 0.03 0.1 0.22 0.1973 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.799413 NA NA 0.20907 0.207217 NA 0.246 NA 7.0753966 952 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,HDAC2_(SC-6296),FOXA1_(C-20),FOXA1_(SC-101058),GATA3_(SC-268),TCF4,FOXA2_(SC-6554) 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 952 1 171763549 171763549 C T exonic METTL13 NA synonymous SNV METTL13:NM_001007239:exon7:c.C1239T:p.Y413Y,METTL13:NM_014955:exon7:c.C1449T:p.Y483Y,METTL13:NM_015935:exon7:c.C1707T:p.Y569Y exonic ENSG00000010165 NA synonymous SNV ENSG00000010165:ENST00000367736:exon3:c.C807T:p.Y269Y,ENSG00000010165:ENST00000361735:exon7:c.C1707T:p.Y569Y,ENSG00000010165:ENST00000362019:exon7:c.C1449T:p.Y483Y,ENSG00000010165:ENST00000367737:exon7:c.C1239T:p.Y413Y,ENSG00000010165:ENST00000458517:exon8:c.C1704T:p.Y568Y NA NA 1q24.3 NA Name=STAT3,c-Fos Name=93 NA rs2232825 0.14 0.14 0.121 0.116414 0.2177 0.1329 0.1556 0.0234 0.093 0.23 0.13 0.13 0.03 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 0.522294 NA NA 0.208256 0.053109 ID=COSM146687;OCCURENCE=1(stomach) 0.174 NA 7.0750106 953 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 953 16 681284 681284 C T exonic WFIKKN1 NA synonymous SNV WFIKKN1:NM_053284:exon1:c.C31T:p.L11L exonic ENSG00000127578 NA synonymous SNV ENSG00000127578:ENST00000319070:exon1:c.C31T:p.L11L NA NA 16p13.3 NA Name=Pol2(phosphoS2),Pol2 Name=17 NA rs8062289 0.2 0.2 0.193 0.218251 0.1859 0.0357 0.0965 0.3986 0.2822 0.2 0.05 0.12 0.45 0.2212 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.375039 NA NA 0.185285 0.345083 ID=COSM435560;OCCURENCE=1(breast),1(large_intestine) 0.275 NA 7.0742816 953 16 83999033 83999033 A G exonic OSGIN1 NA synonymous SNV OSGIN1:NM_182981:exon6:c.A855G:p.S285S exonic ENSG00000140961 NA synonymous SNV ENSG00000140961:ENST00000361711:exon6:c.A855G:p.S285S,ENSG00000140961:ENST00000393306:exon6:c.A855G:p.S285S,ENSG00000140961:ENST00000343939:exon7:c.A1104G:p.S368S NA NA 16q23.3 Score=734;Name=V$PPARA_01 Name=Pol2 NA NA rs173776 0.28 0.28 0.297 0.328874 0.1978 0.1052 0.1715 0.7421 0.2474 0.2 0.12 0.17 0.67 0.2218 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.047028 NA NA 0.174148 0.641648 NA 0.283 NA 7.0729186 953 2 135711657 135711657 G A exonic CCNT2 NA synonymous SNV CCNT2:NM_001241:exon9:c.G1632A:p.K544K,CCNT2:NM_058241:exon9:c.G1632A:p.K544K exonic ENSG00000082258 NA synonymous SNV ENSG00000082258:ENST00000264157:exon9:c.G1632A:p.K544K,ENSG00000082258:ENST00000295238:exon9:c.G1632A:p.K544K,ENSG00000082258:ENST00000537343:exon10:c.G1107A:p.K369K Score=640;Name=lod=534 NA 2q21.3 Score=859;Name=V$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 953 1 22167605 22167605 C T exonic HSPG2 NA nonsynonymous SNV HSPG2:NM_005529:exon71:c.G9502A:p.A3168T exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000374695:exon71:c.G9502A:p.A3168T NA NA 1p36.12 NA NA NA NA rs2228349 0.07 0.07 0.074 0.0836661 0.0676 NA 0.0504 0.1589 0.1084 0.06 NA 0.06 0.17 0.1176 0.17 0.39 T 0.006 B 0.027 B 0.510 N 1.000 P 1.02 L -0.25 T -1.066 T 0.001 T 0.028 0.362 5.966 -0.426 0.024 0.911 10.313 0.362139 NA 0.38 0.075454 0.157572 NA 0.08 NA 7.0726794 953 1 26131654 26131654 G A exonic SEPN1 NA unknown UNKNOWN exonic ENSG00000162430 NA nonsynonymous SNV ENSG00000162430:ENST00000354177:exon3:c.G323A:p.C108Y NA NA 1p36.11 NA NA NA NA rs7349185 0.83 0.83 NA 0.841853 0.7803 0.9395 0.8919 0.7451 0.8998 0.79 0.92 0.88 0.75 0.8144 0.92 1 T 0.0 B 0.0 B 0.076 N 1.000 P 0.805 L 3.02 T -0.907 T 0.000 T 0.193 -1.181 0.082 1.58 0.168 0.962 0.970 -1.181201 NA 1 NA NA NA 0.812 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082016.2;CLNDSDB=.;CLNDSDBID=. 7.0719667 953 1 109810544 109810544 C A exonic CELSR2 NA synonymous SNV CELSR2:NM_001408:exon17:c.C6180A:p.R2060R exonic ENSG00000143126 NA synonymous SNV ENSG00000143126:ENST00000271332:exon17:c.C6180A:p.R2060R Score=485;Name=lod=125 NA 1p13.3 NA NA Name=7 NA rs2281894 0.23 0.23 0.162 0.225839 0.1928 0.4206 0.2205 0.0537 0.2955 0.2 0.41 0.21 0.07 0.2156 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.174215 NA NA 0.186395 0.071039 NA 0.174 NA 7.0718716 953 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$PAX5_02 NA NA NA rs12536873 0.16 0.16 0.141 0.145168 0.1372 0.2361 0.1383 0.1324 0.0818 0.13 0.22 0.13 0.15 0.1472 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129975 NA 0.01 0.143769 0.132783 ID=COSN231373;OCCURENCE=1(skin) 0.188 NA 7.071831 953 6 99283376 99283376 T G exonic POU3F2 NA synonymous SNV POU3F2:NM_005604:exon1:c.T627G:p.G209G exonic ENSG00000184486 NA synonymous SNV ENSG00000184486:ENST00000328345:exon1:c.T627G:p.G209G Score=919;Name=lod=7267 NA 6q16.1 Score=762;Name=V$YY1_02 Name=Egr-1 Name=12 NA rs195860 0.91 0.91 0.867 0.890575 0.8598 0.9544 0.9121 0.8994 0.8292 0.87 0.96 0.92 0.92 0.8653 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 -0.819946 NA NA 0.871048 0.912371 NA 0.116 NA 7.0705186 953 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 953 12 49065727 49065727 T C exonic KANSL2 NA synonymous SNV KANSL2:NM_017822:exon5:c.A564G:p.T188T exonic ENSG00000139620 NA nonsynonymous SNV ENSG00000139620:ENST00000546701:exon4:c.A449G:p.Q150R Score=681;Name=lod=783 NA 12q13.11 NA NA Name=3 NA rs7303113 0.18 0.18 0.198 0.183307 0.3091 0.004 0.1383 0.2655 0.1595 0.3 0.0017 0.15 0.24 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 2.45671 2.45671 NA 0.34989 0.291955 NA 0.246 NA 7.06931 953 8 17743020 17743020 G A exonic FGL1 NA nonsynonymous SNV FGL1:NM_004467:exon2:c.C44T:p.T15I,FGL1:NM_147203:exon2:c.C44T:p.T15I,FGL1:NM_201552:exon3:c.C44T:p.T15I,FGL1:NM_201553:exon3:c.C44T:p.T15I exonic ENSG00000104760 NA nonsynonymous SNV ENSG00000104760:ENST00000522444:exon1:c.C44T:p.T15I,ENSG00000104760:ENST00000381840:exon2:c.C44T:p.T15I,ENSG00000104760:ENST00000427924:exon2:c.C44T:p.T15I,ENSG00000104760:ENST00000518650:exon2:c.C44T:p.T15I,ENSG00000104760:ENST00000381841:exon3:c.C44T:p.T15I,ENSG00000104760:ENST00000398054:exon3:c.C44T:p.T15I,ENSG00000104760:ENST00000398056:exon4:c.C44T:p.T15I NA NA 8p22 NA NA NA NA rs484373 0.68 0.68 0.706 0.649161 0.7684 0.501 0.5014 0.8343 0.5337 0.78 0.51 0.51 0.83 0.7074 0.85 0.52 T 0.0 B 0.0 B 0.000 N 1.000 P -0.345 N 0.76 T -0.963 T 0.000 T 0.031 -1.833 0.009 2.39 0.253 1.109 5.197 -1.833057 NA 0.93 0.788837 0.847027 NA 0.703 NA 7.0686964 953 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 953 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 953 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 953 19 41129842 41129842 C T exonic LTBP4 NA unknown UNKNOWN exonic ENSG00000090006 NA synonymous SNV ENSG00000090006:ENST00000599724:exon6:c.C615T:p.D205D,ENSG00000090006:ENST00000396819:exon27:c.C3684T:p.D1228D,ENSG00000090006:ENST00000545697:exon27:c.C1989T:p.D663D,ENSG00000090006:ENST00000204005:exon30:c.C3774T:p.D1258D,ENSG00000090006:ENST00000308370:exon30:c.C3885T:p.D1295D Score=336;Name=lod=31 NA 19q13.2 NA Name=HMGN3,BCL3,KAP1,ELF1_(SC-631),ETS1,Pol2,FOXA1_(C-20),GATA2_(CG2-96),TBP,NF-YB,CEBPB,ZBTB7A_(SC-34508),PU.1,TAL1_(SC-12984),SP1,eGFP-JunD,NRSF Name=76 NA rs7367 0.47 0.47 0.465 0.51877 0.4274 0.3601 0.3329 0.8011 0.5266 0.44 0.31 0.33 0.79 0.4389 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 -0.249006 NA NA 0.400455 0.741371 NA 0.457 NA 7.0665783 953 17 39983820 39983820 G A exonic NT5C3B NA nonsynonymous SNV NT5C3B:NM_052935:exon8:c.C626T:p.A209V exonic ENSG00000141698 NA nonsynonymous SNV ENSG00000141698:ENST00000415460:exon7:c.C536T:p.A179V,ENSG00000141698:ENST00000269534:exon8:c.C602T:p.A201V,ENSG00000141698:ENST00000435506:exon8:c.C626T:p.A209V NA NA 17q21.2 NA NA NA NA rs1046403 0.77 0.77 0.758 0.786142 0.7296 0.8323 0.8646 0.7526 0.7863 0.72 0.83 0.84 0.75 0.777 0.84 1 T 0.001 B 0.001 B 0.004 N 0.000 P 0.505 N -1.38 T -0.934 T 0.000 T 0.533 0.131 4.702 2.87 0.407 2.795 9.327 0.130584 NA 0.68 0.760233 0.761235 NA 0.826 NA 7.0665004 953 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=Pbx3,Pol2-4H8,Pol2,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 953 17 7217463 7217463 T C exonic GPS2 NA synonymous SNV GPS2:NM_004489:exon5:c.A333G:p.L111L exonic ENSG00000132522 NA synonymous SNV ENSG00000132522:ENST00000389167:exon4:c.A333G:p.L111L,ENSG00000132522:ENST00000380728:exon5:c.A333G:p.L111L,ENSG00000132522:ENST00000391950:exon5:c.A333G:p.L111L,ENSG00000132522:ENST00000577040:exon5:c.A333G:p.L111L Score=470;Name=lod=108 NA 17p13.1 NA Name=Pol2-4H8,Pol2 Name=29 NA rs2292064 0.58 0.58 0.545 0.57488 0.5179 0.6796 0.6484 0.4592 0.6299 0.53 0.67 0.64 0.51 0.5535 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 2.458435 2.458435 NA 0.529302 0.470495 ID=COSM437290;OCCURENCE=1(breast),1(haematopoietic_and_lymphoid_tissue) 0.522 NA 7.0659646 953 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 953 9 113457726 113457726 G A exonic MUSK NA synonymous SNV MUSK:NM_001166280:exon4:c.G402A:p.E134E,MUSK:NM_001166281:exon4:c.G402A:p.E134E,MUSK:NM_005592:exon4:c.G402A:p.E134E exonic ENSG00000030304 NA synonymous SNV ENSG00000030304:ENST00000374439:exon2:c.G48A:p.E16E,ENSG00000030304:ENST00000189978:exon4:c.G402A:p.E134E,ENSG00000030304:ENST00000374440:exon4:c.G48A:p.E16E,ENSG00000030304:ENST00000374448:exon4:c.G402A:p.E134E,ENSG00000030304:ENST00000416899:exon4:c.G402A:p.E134E Score=578;Name=lod=297 NA 9q31.3 NA NA NA NA rs10980531 0.18 0.18 0.173 0.170128 0.1899 0.2192 0.1167 0.1452 0.1708 0.19 0.24 0.14 0.15 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 0.962924 NA NA 0.16966 0.120528 NA 0.167 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117647.1;CLNDSDB=.;CLNDSDBID=. 7.0655066 954 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 954 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 954 3 124802881 124802881 A G exonic SLC12A8 NA synonymous SNV SLC12A8:NM_001195483:exon13:c.T1998C:p.P666P,SLC12A8:NM_024628:exon14:c.T1998C:p.P666P exonic ENSG00000221955 NA synonymous SNV ENSG00000221955:ENST00000430155:exon8:c.T1401C:p.P467P,ENSG00000221955:ENST00000314584:exon10:c.T981C:p.P327P,ENSG00000221955:ENST00000393469:exon13:c.T1998C:p.P666P,ENSG00000221955:ENST00000423114:exon14:c.T2085C:p.P695P,ENSG00000221955:ENST00000469902:exon14:c.T1998C:p.P666P Score=425;Name=lod=71 NA 3q21.2 NA Name=NRSF Name=52 NA rs2981483 0.61 0.61 0.606 0.624201 0.5388 0.5813 0.5994 0.8026 0.5327 0.55 0.56 0.56 0.79 0.5446 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 0.592885 NA NA 0.518448 0.772994 NA 0.58 NA 7.0648186 954 1 89847372 89847372 G T exonic GBP6 NA nonsynonymous SNV GBP6:NM_198460:exon7:c.G991T:p.A331S exonic ENSG00000183347 NA nonsynonymous SNV ENSG00000183347:ENST00000535065:exon5:c.G601T:p.A201S,ENSG00000183347:ENST00000370456:exon7:c.G991T:p.A331S NA NA 1p22.2 NA Name=CTCF NA NA rs4658359 0.79 0.79 0.782 0.805911 0.7465 0.7262 0.8415 0.9092 0.7843 0.74 0.74 0.83 0.91 0.7769 0.91 0.11 T 0.835 P 0.612 P 0.288 N 1.000 P 1.725 L 4.39 T -0.897 T 0.005 T 0.07 1.849 12.14 -0.023 0.093 0.050 3.352 1.848592 1.848592 0.12 0.745465 0.880163 NA 0.79 NA 7.0644684 954 17 17062241 17062241 C G exonic MPRIP NA synonymous SNV MPRIP:NM_015134:exon14:c.C1971G:p.A657A,MPRIP:NM_201274:exon14:c.C1971G:p.A657A exonic ENSG00000133030 NA synonymous SNV ENSG00000133030:ENST00000584067:exon9:c.C1389G:p.A463A,ENSG00000133030:ENST00000444976:exon13:c.C1857G:p.A619A,ENSG00000133030:ENST00000341712:exon14:c.C1971G:p.A657A,ENSG00000133030:ENST00000395804:exon14:c.C1971G:p.A657A,ENSG00000133030:ENST00000395811:exon14:c.C1971G:p.A657A Score=515;Name=lod=165 NA 17p11.2 Score=865;Name=V$HNF4_01 NA NA NA rs11551189 0.48 0.48 0.424 0.453075 0.5417 0.7113 0.5231 0.0756 0.5562 0.57 0.69 0.5 0.09 0.5233 0.69 . . . . . . . . 0.000 P . . . . -0.963 T 0.000 T . -1.026 0.225 0.988 -0.232 0.224 8.541 -1.025905 NA NA 0.538569 0.143605 ID=COSM436128;OCCURENCE=1(breast) 0.319 NA 7.0630976 954 2 21225281 21225281 C T exonic APOB NA nonsynonymous SNV APOB:NM_000384:exon29:c.G13013A:p.S4338N exonic ENSG00000084674 NA nonsynonymous SNV ENSG00000084674:ENST00000233242:exon29:c.G13013A:p.S4338N NA Name=HDL cholesterol,Triglycerides 2p24.1 NA NA NA NA rs1042034 0.66 0.66 0.682 0.629593 0.7823 0.2798 0.7493 0.8759 0.4151 0.77 0.29 0.78 0.84 0.7057 0.84 1 T 0.0 B 0.0 B 0.669 N 1.000 P -1.59 N 1.25 T -0.975 T 0.000 T 0.013 -1.103 0.14 1.61 -0.124 0.640 5.789 -1.103068 NA 1 0.782421 0.843111 NA 0.826 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116382.2;CLNDSDB=.;CLNDSDBID=. 7.0629124 954 8 144942903 144942903 T C exonic EPPK1 NA nonsynonymous SNV EPPK1:NM_031308:exon1:c.A4519G:p.T1507A exonic ENSG00000227184 NA nonsynonymous SNV ENSG00000227184:ENST00000525985:exon2:c.A4519G:p.T1507A NA NA 8q24.3 Score=894;Name=V$ZIC2_01 Name=E2F6_(H-50) NA NA rs6558399 0.65 0.65 0.699 0.685304 0.7475 0.3869 0.732 0.7791 0.7689 0.77 0.37 0.73 0.73 0.7511 0.77 0.94 T 0.0 B 0.0 B . . 1.000 P . . -0.27 T -0.958 T 0.000 T 0.027 -0.756 0.799 -1.92 -0.671 -0.097 11.869 -0.756006 NA NA 0.772198 0.766064 NA 0.536 NA 7.0625354 954 7 44555406 44555406 G A exonic NPC1L1 NA synonymous SNV NPC1L1:NM_001101648:exon18:c.C3792T:p.Y1264Y,NPC1L1:NM_013389:exon19:c.C3873T:p.Y1291Y exonic ENSG00000015520 NA synonymous SNV ENSG00000015520:ENST00000546276:exon17:c.C3654T:p.Y1218Y,ENSG00000015520:ENST00000381160:exon18:c.C3792T:p.Y1264Y,ENSG00000015520:ENST00000289547:exon19:c.C3873T:p.Y1291Y Score=462;Name=lod=101 NA 7p13 NA NA Name=15 NA rs10264715 0.1 0.1 0.088 0.0806709 0.2087 0.005 0.1009 0.0265 0.0859 0.2 0.01 0.12 0.02 0.1686 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391682 NA NA 0.22686 0.055606 NA 0.072 NA 7.0625066 954 10 116335246 116335246 G A exonic ABLIM1 NA synonymous SNV ABLIM1:NM_001003407:exon3:c.C312T:p.F104F,ABLIM1:NM_001003408:exon3:c.C312T:p.F104F,ABLIM1:NM_002313:exon3:c.C492T:p.F164F exonic ENSG00000099204 NA synonymous SNV ENSG00000099204:ENST00000277895:exon3:c.C492T:p.F164F,ENSG00000099204:ENST00000369252:exon3:c.C312T:p.F104F,ENSG00000099204:ENST00000369256:exon3:c.C312T:p.F104F,ENSG00000099204:ENST00000392955:exon3:c.C312T:p.F104F,ENSG00000099204:ENST00000533213:exon3:c.C312T:p.F104F Score=672;Name=lod=719 NA 10q25.3 Score=900;Name=V$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 954 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=Egr-1,CTCFL_(SC-98982),SMC3_(ab9263),Rad21,YY1_(C-20),CTCF_(SC-5916),Znf143_(16618-1-AP),RFX5_(N-494),CTCF_(C-20),ZEB1_(SC-25388),TAF1,BCLAF1_(M33-P5B11),ELF1_(SC-631),Pol2,E2F6_(H-50),CTCF 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 954 7 149518961 149518961 T C exonic SSPO NA synonymous SNV SSPO:NM_198455:exon90:c.T12765C:p.A4255A ncRNA_exonic ENSG00000197558 NA NA NA Score=405;Name=lod=59 NA 7q36.1 NA Name=E2F6,c-Myc Name=2 NA rs1008335 0.45 0.45 0.425 0.462859 0.3091 0.4256 0.3833 0.7481 0.3303 0.29 0.43 0.39 0.74 0.466 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.926544 NA NA 0.330104 0.666431 NA 0.464 NA 7.0614626 954 15 40558064 40558064 A G exonic PAK6 NA nonsynonymous SNV PAK6:NM_001276717:exon3:c.A226G:p.M76V,PAK6:NM_001128629:exon4:c.A226G:p.M76V,PAK6:NM_001128628:exon5:c.A226G:p.M76V,PAK6:NM_001276718:exon5:c.A226G:p.M76V,PAK6:NM_020168:exon5:c.A226G:p.M76V exonic ENSG00000137843 NA nonsynonymous SNV ENSG00000137843:ENST00000542403:exon3:c.A226G:p.M76V,ENSG00000137843:ENST00000560669:exon3:c.A226G:p.M76V,ENSG00000137843:ENST00000453867:exon4:c.A226G:p.M76V,ENSG00000137843:ENST00000558055:exon4:c.A226G:p.M76V,ENSG00000137843:ENST00000558106:exon4:c.A226G:p.M76V,ENSG00000137843:ENST00000559139:exon4:c.A226G:p.M76V,ENSG00000137843:ENST00000559617:exon4:c.A226G:p.M76V,ENSG00000137843:ENST00000260404:exon5:c.A226G:p.M76V,ENSG00000137843:ENST00000441369:exon5:c.A226G:p.M76V,ENSG00000137843:ENST00000455577:exon5:c.A226G:p.M76V,ENSG00000137843:ENST00000560346:exon5:c.A226G:p.M76V,ENSG00000137843:ENST00000561230:exon5:c.A226G:p.M76V NA NA 15q15.1 NA NA NA NA rs2412504 0.16 0.16 0.146 0.185903 0.0865 0.1458 0.0764 0.3396 0.1994 0.09 0.15 0.1 0.32 0.1109 0.32 0.53 T 0.0 B 0.0 B 0.008 N 1.000 P -1.39 N -0.63 T -1.011 T 0.000 T 0.241 -1.385 0.024 1.85 0.241 0.675 7.315 -1.384817 NA 0.61 0.075818 0.259234 NA 0.188 NA 7.0601154 954 16 81094951 81094951 A G exonic C16orf46 NA nonsynonymous SNV C16orf46:NM_001100873:exon3:c.T1003C:p.Y335H,C16orf46:NM_152337:exon4:c.T1003C:p.Y335H exonic ENSG00000166455 NA nonsynonymous SNV ENSG00000166455:ENST00000378611:exon3:c.T1003C:p.Y335H,ENSG00000166455:ENST00000299578:exon4:c.T1003C:p.Y335H NA NA 16q23.2 NA NA NA NA rs10459872 0.11 0.11 0.08 0.104633 0.0934 0.1944 0.1052 0.0393 0.1115 0.1 0.19 0.1 0.04 0.1022 0.19 0.54 T 0.005 B 0.011 B 0.795 N 1.000 P 0.255 N 2.29 T -0.922 T 0.000 T 0.092 -1.03 0.219 0.334 0.393 0.090 0.931 -1.029958 NA 0.54 0.077907 0.041099 NA 0.022 NA 7.0598264 954 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$CREB_01 NA NA NA rs12918646 0.3 0.3 0.25 0.294728 0.159 0.5446 0.4006 0.143 0.3067 0.2 0.52 0.35 0.14 0.2586 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431064 NA NA 0.19 0.16386 NA 0.304 NA 7.0590666 954 19 42265889 42265889 G T exonic CEACAM6 NA nonsynonymous SNV CEACAM6:NM_002483:exon4:c.G716T:p.G239V exonic ENSG00000086548 NA nonsynonymous SNV ENSG00000086548:ENST00000199764:exon4:c.G716T:p.G239V NA NA 19q13.2 NA NA NA NA rs11548735 0.55 0.55 0.559 0.549321 0.4056 0.5625 0.536 0.7526 0.4182 0.42 0.58 0.5 0.74 0.4574 0.74 0.25 T 0.0 B 0.0 B . . 1.000 P -0.41 N 2.95 T -1.057 T 0.000 T 0.02 -0.677 1.048 -1.6 -1.295 -0.235 4.184 -0.676735 NA 0.49 0.41186 0.68384 NA 0.449 NA 7.0584734 954 19 11942362 11942362 A G exonic ZNF440 NA nonsynonymous SNV ZNF440:NM_152357:exon4:c.A371G:p.N124S exonic ENSG00000171295 NA nonsynonymous SNV ENSG00000171295:ENST00000414255:exon3:c.A377G:p.N126S,ENSG00000171295:ENST00000457526:exon3:c.A5G:p.N2S,ENSG00000171295:ENST00000304060:exon4:c.A371G:p.N124S,ENSG00000171295:ENST00000427505:exon4:c.A380G:p.N127S NA NA 19p13.2 NA NA NA NA rs427880 0.49 0.49 0.543 0.535942 0.4036 0.4236 0.4683 0.8714 0.3824 0.39 0.42 0.4 0.79 0.4454 0.8 0.03 D 0.038 B 0.024 B . . 1.000 P 1.15 L 6.78 T -1.083 T 0.000 T 0.05 -0.097 3.527 -0.224 -0.119 -0.037 4.354 -0.096629 NA 0.05 0.427774 0.799818 NA 0.507 NA 7.0565594 954 1 197896728 197896728 T C exonic LHX9 NA synonymous SNV LHX9:NM_020204:exon4:c.T741C:p.N247N,LHX9:NM_001014434:exon5:c.T714C:p.N238N exonic ENSG00000143355 NA synonymous SNV ENSG00000143355:ENST00000337020:exon4:c.T741C:p.N247N,ENSG00000143355:ENST00000367387:exon4:c.T741C:p.N247N,ENSG00000143355:ENST00000367390:exon5:c.T714C:p.N238N,ENSG00000143355:ENST00000367391:exon5:c.T714C:p.N238N,ENSG00000143355:ENST00000561173:exon5:c.T759C:p.N253N Score=479;Name=lod=118 NA 1q31.3 Score=917;Name=V$OCT1_03 NA NA NA rs12046958 0.28 0.28 0.234 0.267971 0.1859 0.4067 0.3545 0.1959 0.2454 0.19 0.41 0.32 0.22 0.2363 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.858494 NA NA 0.188953 0.185883 ID=COSM146721;OCCURENCE=1(stomach) 0.174 NA 7.0555136 954 6 76660551 76660551 G C exonic IMPG1 NA nonsynonymous SNV IMPG1:NM_001563:exon13:c.C1552G:p.H518D exonic ENSG00000112706 NA nonsynonymous SNV ENSG00000112706:ENST00000369950:exon13:c.C1552G:p.H518D NA NA 6q14.1 Score=691;Name=V$BRACH_01 NA NA NA rs3734311 0.54 0.54 0.543 0.534944 0.4066 0.6607 0.5677 0.5628 0.4765 0.43 0.65 0.54 0.6 0.4659 0.65 0.94 T 0.0 B 0.0 B 0.014 N 1.000 P -1.67 N 2.25 T -0.945 T 0.002 T 0.018 -0.826 0.608 1.48 -0.246 0.545 5.560 -0.82604 NA 0.83 0.405349 0.520427 NA 0.63 NA 7.0554844 955 11 66333598 66333598 C T exonic CTSF NA synonymous SNV CTSF:NM_003793:exon6:c.G762A:p.R254R exonic ENSG00000174080 NA synonymous SNV ENSG00000174080:ENST00000310325:exon6:c.G762A:p.R254R NA NA 11q13.2 NA NA NA NA rs545009 0.61 0.61 0.623 0.588858 0.5497 0.5536 0.4207 0.8775 0.3947 0.55 0.57 0.46 0.88 0.5308 0.88 . . . . . . . . 1.000 P . . . . -1.053 T 0.000 T . 0.367 5.993 -5.05 -1.130 0.260 10.262 0.367152 NA NA 0.531199 0.812727 NA 0.514 NA 7.0549676 955 1 3638674 3638674 C T exonic TP73 NA synonymous SNV TP73:NM_001126240:exon3:c.C372T:p.T124T,TP73:NM_001126241:exon3:c.C372T:p.T124T,TP73:NM_001126242:exon3:c.C372T:p.T124T,TP73:NM_001204189:exon3:c.C372T:p.T124T,TP73:NM_001204190:exon3:c.C372T:p.T124T,TP73:NM_001204191:exon3:c.C372T:p.T124T,TP73:NM_001204192:exon3:c.C306T:p.T102T,TP73:NM_001204184:exon5:c.C519T:p.T173T,TP73:NM_001204185:exon5:c.C519T:p.T173T,TP73:NM_001204186:exon5:c.C519T:p.T173T,TP73:NM_001204187:exon5:c.C519T:p.T173T,TP73:NM_001204188:exon5:c.C519T:p.T173T,TP73:NM_005427:exon5:c.C519T:p.T173T exonic ENSG00000078900 NA synonymous SNV ENSG00000078900:ENST00000378280:exon3:c.C372T:p.T124T,ENSG00000078900:ENST00000378285:exon3:c.C372T:p.T124T,ENSG00000078900:ENST00000378288:exon3:c.C372T:p.T124T,ENSG00000078900:ENST00000378290:exon3:c.C306T:p.T102T,ENSG00000078900:ENST00000603362:exon4:c.C519T:p.T173T,ENSG00000078900:ENST00000604479:exon4:c.C519T:p.T173T,ENSG00000078900:ENST00000346387:exon5:c.C519T:p.T173T,ENSG00000078900:ENST00000354437:exon5:c.C519T:p.T173T,ENSG00000078900:ENST00000357733:exon5:c.C519T:p.T173T,ENSG00000078900:ENST00000378295:exon5:c.C519T:p.T173T,ENSG00000078900:ENST00000604074:exon5:c.C519T:p.T173T Score=516;Name=lod=166 NA 1p36.32 Score=971;Name=V$GATA2_01 Name=E2F6_(H-50),USF-1 NA Score=62;Name=4450_0_-_62 rs1801174 0.75 0.75 0.762 0.736022 0.9135 0.5268 0.7219 0.7738 0.728 0.91 0.51 0.75 0.79 0.8101 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 0.179585 NA NA 0.888811 0.772603 NA 0.761 NA 7.0542556 955 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 955 3 111923123 111923123 G A exonic SLC9C1 NA nonsynonymous SNV SLC9C1:NM_183061:exon17:c.C2114T:p.T705I exonic ENSG00000172139 NA nonsynonymous SNV ENSG00000172139:ENST00000487372:exon16:c.C1970T:p.T657I,ENSG00000172139:ENST00000305815:exon17:c.C2114T:p.T705I NA NA 3q13.2 NA NA NA NA rs4434123 0.81 0.81 0.807 0.830272 0.7326 0.9891 0.8473 0.6974 0.9346 0.74 0.99 0.8 0.71 0.7925 0.99 1 T 0.001 B 0.002 B 0.918 N 1.000 P -0.425 N -1.24 T -0.927 T 0.000 T 0.014 0.346 5.879 -3.05 -0.102 -1.172 1.162 0.346399 NA 0.74 0.754548 0.712858 NA 0.761 NA 7.0536854 955 8 118832020 118832020 G A exonic EXT1 NA synonymous SNV EXT1:NM_000127:exon6:c.C1431T:p.P477P exonic ENSG00000182197 NA synonymous SNV ENSG00000182197:ENST00000378204:exon6:c.C1431T:p.P477P Score=563;Name=lod=258 NA 8q24.11 Score=726;Name=V$PAX4_04 NA NA NA rs17439693 0.14 0.14 0.111 0.120208 0.2445 0.0308 0.1772 0.0787 0.1002 0.24 0.03 0.16 0.09 0.1746 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.314308 1.314308 NA 0.194186 0.105992 NA 0.239 NA 7.0533806 955 19 8321937 8321937 C T exonic CERS4 NA synonymous SNV CERS4:NM_024552:exon9:c.C717T:p.H239H exonic ENSG00000090661 NA synonymous SNV ENSG00000090661:ENST00000559450:exon8:c.C717T:p.H239H,ENSG00000090661:ENST00000251363:exon9:c.C717T:p.H239H,ENSG00000090661:ENST00000558331:exon9:c.C564T:p.H188H,ENSG00000090661:ENST00000559336:exon9:c.C717T:p.H239H Score=433;Name=lod=77 NA 19p13.2 NA Name=CTCF NA NA rs1127912 0.24 0.24 0.221 0.228035 0.2117 0.1964 0.2291 0.3434 0.1207 0.22 0.2 0.23 0.33 0.2125 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214214 NA NA 0.19093 0.312755 ID=COSM148474;OCCURENCE=1(stomach) 0.217 NA 7.0515366 955 6 18237661 18237661 C T exonic DEK NA synonymous SNV DEK:NM_001134709:exon7:c.G747A:p.K249K,DEK:NM_003472:exon8:c.G849A:p.K283K exonic ENSG00000124795 NA synonymous SNV ENSG00000124795:ENST00000507591:exon2:c.G177A:p.K59K,ENSG00000124795:ENST00000244776:exon7:c.G747A:p.K249K,ENSG00000124795:ENST00000397239:exon8:c.G849A:p.K283K,ENSG00000124795:ENST00000505224:exon8:c.G765A:p.K255K Score=592;Name=lod=339 NA 6p22.3 Score=798;Name=V$CART1_01 NA NA NA rs1013062 0.17 0.17 0.162 0.164337 0.2087 0.247 0.1124 0.0295 0.2526 0.21 0.25 0.12 0.03 0.199 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.118891 NA NA 0.208256 0.063579 NA 0.196 NA 7.0507106 955 9 100995758 100995758 G T exonic TBC1D2 NA nonsynonymous SNV TBC1D2:NM_001267571:exon4:c.C721A:p.P241T,TBC1D2:NM_018421:exon4:c.C721A:p.P241T exonic ENSG00000095383 NA nonsynonymous SNV ENSG00000095383:ENST00000342112:exon3:c.C67A:p.P23T,ENSG00000095383:ENST00000375064:exon4:c.C721A:p.P241T,ENSG00000095383:ENST00000375066:exon4:c.C721A:p.P241T NA NA 9q22.33 NA NA NA NA rs879368 0.23 0.23 0.224 0.210663 0.2744 0.1627 0.2507 0.1687 0.2229 0.29 0.16 0.28 0.16 0.2463 0.29 0.48 T 0.465 P 0.124 B 0.101 N 1.000 P 1.7 L 3.15 T -0.926 T 0.000 T 0.058 0.337 5.827 0.842 -0.011 -0.811 4.903 0.336876 NA 0.34 0.262907 0.178166 NA 0.283 NA 7.0497264 955 22 50885775 50885775 A G exonic SBF1 NA synonymous SNV SBF1:NM_002972:exon40:c.T5559C:p.T1853T exonic ENSG00000100241 NA synonymous SNV ENSG00000100241:ENST00000348911:exon39:c.T5484C:p.T1828T,ENSG00000100241:ENST00000390679:exon39:c.T5481C:p.T1827T,ENSG00000100241:ENST00000380817:exon40:c.T5559C:p.T1853T Score=557;Name=lod=245 NA 22q13.33 NA NA NA NA rs1053744 0.53 0.53 0.528 0.500998 0.5577 0.4673 0.5389 0.4909 0.4642 0.55 0.49 0.56 0.52 0.5176 0.56 . . . . . . . . 0.000 P . . . . -0.923 T 0.000 T . 0.217 5.172 -2.66 -0.623 0.012 6.371 0.217273 NA NA 0.542383 0.485534 NA 0.565 NA 7.0489836 955 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 955 19 7125297 7125297 G A exonic INSR NA synonymous SNV INSR:NM_001079817:exon16:c.C3219T:p.H1073H,INSR:NM_000208:exon17:c.C3255T:p.H1085H exonic ENSG00000171105 NA synonymous SNV ENSG00000171105:ENST00000341500:exon16:c.C3219T:p.H1073H,ENSG00000171105:ENST00000302850:exon17:c.C3255T:p.H1085H Score=542;Name=lod=213 NA 19p13.2 Score=893;Name=V$SREBP1_01 NA NA NA rs1799817 0.27 0.27 0.257 0.292532 0.2157 0.4464 0.232 0.23 0.3405 0.22 0.39 0.22 0.23 0.2273 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.841926 NA NA 0.175698 0.220381 NA 0.297 NA 7.0479686 955 19 49901318 49901318 T C exonic CCDC155 NA synonymous SNV CCDC155:NM_144688:exon7:c.T547C:p.L183L exonic ENSG00000161609 NA synonymous SNV ENSG00000161609:ENST00000447857:exon7:c.T547C:p.L183L,ENSG00000161609:ENST00000594043:exon7:c.T547C:p.L183L,ENSG00000161609:ENST00000595828:exon8:c.T505C:p.L169L Score=435;Name=lod=78 NA 19q13.33 NA Name=ERalpha_a,ZBTB7A_(SC-34508) Name=4 NA rs10421748 0.53 0.53 0.528 0.571885 0.5239 0.5129 0.4625 0.6324 0.6779 0.51 0.51 0.5 0.62 0.5466 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.667241 NA NA 0.548337 0.614169 NA 0.609 NA 7.0478296 955 12 21329738 21329738 A G exonic SLCO1B1 NA nonsynonymous SNV SLCO1B1:NM_006446:exon5:c.A388G:p.N130D exonic ENSG00000134538 NA nonsynonymous SNV ENSG00000134538:ENST00000256958:exon5:c.A388G:p.N130D NA NA 12p12.1 NA NA NA NA rs2306283 0.59 0.59 0.597 0.622404 0.4026 0.7619 0.4726 0.8177 0.547 0.4 0.75 0.47 0.8 0.4795 0.8 0.67 T 0.0 B 0.003 B 0.189 N 1.000 P 0.495 N 1.12 T -0.983 T 0.000 T 0.005 -0.578 1.4 -2.63 -0.797 -0.302 9.285 -0.578401 NA 0.52 0.403734 0.765121 NA 0.514 NA 7.0474994 955 3 150128484 150128484 C A exonic TSC22D2 NA synonymous SNV TSC22D2:NM_014779:exon1:c.C1347A:p.V449V exonic ENSG00000196428 NA synonymous SNV ENSG00000196428:ENST00000361136:exon1:c.C1347A:p.V449V,ENSG00000196428:ENST00000361875:exon1:c.C1347A:p.V449V NA NA 3q25.1 NA Name=AP-2gamma,AP-2alpha Name=6 NA rs3749400 0.12 0.12 0.134 0.126797 0.173 0.0317 0.1052 0.1921 0.1043 0.17 0.05 0.11 0.14 0.2575 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 -1.274521 NA NA 0.189817 0.194719 NA 0.087 NA 7.0463496 955 7 141759676 141759676 T C exonic MGAM NA synonymous SNV MGAM:NM_004668:exon33:c.T3969C:p.N1323N exonic ENSG00000257335 NA synonymous SNV ENSG00000257335:ENST00000475668:exon33:c.T3969C:p.N1323N,ENSG00000257335:ENST00000549489:exon33:c.T3969C:p.N1323N Score=517;Name=lod=168 NA 7q34 Score=875;Name=V$OCT1_03 NA NA NA rs3087312 0.19 0.19 0.165 0.185903 0.1938 0.1736 0.2378 0.1415 0.2137 0.19 0.18 0.24 0.15 0.242 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080047 NA NA 0.184796 0.14456 NA 0.181 NA 7.0460706 955 4 76881233 76881233 G T exonic SDAD1 NA nonsynonymous SNV SDAD1:NM_018115:exon17:c.C1469A:p.A490D exonic ENSG00000198301 NA nonsynonymous SNV ENSG00000198301:ENST00000395711:exon16:c.C1358A:p.A453D,ENSG00000198301:ENST00000356260:exon17:c.C1469A:p.A490D NA NA 4q21.1 NA NA NA NA rs34627298 0.1 0.1 0.087 0.0954473 0.0885 0.123 0.1066 0.0159 0.1738 0.11 0.13 0.12 0.02 0.1048 0.13 0.63 T 0.001 B 0.001 B 0.064 N 1.000 P 0.315 N 2.86 T -0.952 T 0.000 T 0.098 0.103 4.553 0.987 0.627 0.199 3.140 0.102708 NA 0.63 0.094186 0.029505 NA 0.051 NA 7.0458474 955 12 113357193 113357193 G A splicing OAS1 NM_016816:exon6:c.1039-1G>A NA NA splicing ENSG00000089127 ENST00000202917:exon6:c.1039-1G>A NA NA NA NA 12q24.13 NA NA NA NA rs10774671 0.64 0.64 0.598 0.614417 0.6481 0.745 0.7262 0.3601 0.7096 0.65 0.78 0.7 0.41 0.6685 0.78 . . . . . . . . 0.001 P . . . . . . . . . 0.193 5.04 2.89 1.927 0.497 9.461 0.19302 NA NA 0.638372 0.435089 NA 0.471 CLINSIG=other;CLNDBN=Diabetes_mellitus\x2c_type_1\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000015021.1;CLNDSDB=.;CLNDSDBID=. 7.045028 956 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 956 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 956 6 18264210 18264210 G A exonic DEK NA synonymous SNV DEK:NM_001134709:exon2:c.C9T:p.A3A,DEK:NM_003472:exon2:c.C9T:p.A3A exonic ENSG00000124795 NA synonymous SNV ENSG00000124795:ENST00000515742:exon1:c.C24T:p.A8A,ENSG00000124795:ENST00000244776:exon2:c.C9T:p.A3A,ENSG00000124795:ENST00000397239:exon2:c.C9T:p.A3A,ENSG00000124795:ENST00000505224:exon2:c.C9T:p.A3A NA NA 6p22.3 NA Name=Pol2,HEY1,Pol2-4H8,TAF1,ZNF263,Pol2(b) Name=10 NA rs11544757 0.17 0.17 0.14 0.164537 0.2087 0.246 0.1124 0.031 0.2526 0.21 0.25 0.12 0.03 0.2055 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468448 NA NA 0.208023 0.067408 NA 0.058 NA 7.0444436 956 3 52727257 52727257 G A exonic GNL3 NA nonsynonymous SNV GNL3:NM_014366:exon11:c.G1099A:p.V367M,GNL3:NM_206825:exon11:c.G1063A:p.V355M,GNL3:NM_206826:exon11:c.G1063A:p.V355M exonic ENSG00000163938 NA nonsynonymous SNV ENSG00000163938:ENST00000394799:exon11:c.G1063A:p.V355M,ENSG00000163938:ENST00000418458:exon11:c.G1099A:p.V367M NA NA 3p21.1 NA NA Name=14 NA rs2289247 0.49 0.49 0.494 0.445088 0.4294 0.4276 0.513 0.5575 0.2791 0.44 0.49 0.53 0.55 0.4292 0.55 0.35 T 0.0 B 0.0 B 0.375 N 1.000 P -1.495 N 1.46 T -0.934 T 0.000 T 0.063 1.019 9.162 0.476 -0.059 0.261 0.787 1.018908 NA 0.22 0.430698 0.51793 NA 0.384 NA 7.0440354 956 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 956 4 126237971 126237971 C T exonic FAT4 NA synonymous SNV FAT4:NM_024582:exon1:c.C405T:p.F135F exonic ENSG00000196159 NA synonymous SNV ENSG00000196159:ENST00000394329:exon1:c.C405T:p.F135F Score=419;Name=lod=67 NA 4q28.1 Score=962;Name=V$IK2_01 NA NA NA rs72928772 0.14 0.14 0.125 0.130391 0.2197 0.0982 0.1354 0.0696 0.1503 0.23 0.08 0.17 0.08 0.1872 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316933 NA NA 0.216171 0.086605 NA 0.152 NA 7.0435956 956 22 44368204 44368204 A G exonic SAMM50 NA synonymous SNV SAMM50:NM_015380:exon5:c.A411G:p.G137G exonic ENSG00000100347 NA synonymous SNV ENSG00000100347:ENST00000350028:exon5:c.A411G:p.G137G Score=580;Name=lod=303 NA 22q13.31 Score=866;Name=V$YY1_01 NA NA Score=84;Name=1506117_0_+_84 rs3177036 0.68 0.68 0.694 0.695487 0.5477 0.8185 0.5692 0.7496 0.7372 0.56 0.84 0.54 0.77 0.5812 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 1.361044 1.361044 NA 0.494651 0.701316 NA 0.681 NA 7.0431156 956 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 956 1 43042703 43042703 C T exonic CCDC30 NA synonymous SNV CCDC30:NM_001080850:exon7:c.C868T:p.L290L exonic ENSG00000186409 NA synonymous SNV ENSG00000186409:ENST00000390640:exon3:c.C235T:p.L79L,ENSG00000186409:ENST00000340612:exon6:c.C868T:p.L290L,ENSG00000186409:ENST00000507855:exon6:c.C235T:p.L79L,ENSG00000186409:ENST00000342022:exon7:c.C868T:p.L290L,ENSG00000186409:ENST00000509712:exon9:c.C730T:p.L244L,ENSG00000186409:ENST00000428554:exon14:c.C868T:p.L290L Score=443;Name=lod=84 NA 1p34.2 NA Name=MafK_(SC-477),MafK_(ab50322),MafF_(M8194) NA NA rs12049046 0.24 0.24 0.217 0.285543 0.1879 0.4563 0.1571 0.177 0.4479 0.19 0.4 0.16 0.17 0.2373 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090523 NA NA 0.198488 0.183386 NA 0.203 NA 7.0429786 956 17 1580929 1580929 G C exonic PRPF8 NA synonymous SNV PRPF8:NM_006445:exon14:c.C1914G:p.L638L exonic ENSG00000174231 NA synonymous SNV ENSG00000174231:ENST00000577001:exon12:c.C1749G:p.L583L,ENSG00000174231:ENST00000572621:exon13:c.C1914G:p.L638L,ENSG00000174231:ENST00000304992:exon14:c.C1914G:p.L638L Score=651;Name=lod=590 NA 17p13.3 Score=890;Name=V$HAND1E47_01 NA NA NA rs11078565 0.25 0.25 0.264 0.272364 0.1948 0.0903 0.147 0.6324 0.1421 0.19 0.07 0.14 0.64 0.217 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.206638 NA NA 0.212093 0.55606 NA 0.297 NA 7.0427736 956 16 51172677 51172677 G A exonic SALL1 NA synonymous SNV SALL1:NM_001127892:exon2:c.C3165T:p.H1055H,SALL1:NM_002968:exon2:c.C3456T:p.H1152H exonic ENSG00000103449 NA synonymous SNV ENSG00000103449:ENST00000251020:exon2:c.C3456T:p.H1152H,ENSG00000103449:ENST00000440970:exon2:c.C3165T:p.H1055H,ENSG00000103449:ENST00000570206:exon2:c.C3165T:p.H1055H Score=641;Name=lod=537 NA 16q12.1 NA Name=ZNF274 NA NA rs11645288 0.15 0.15 0.133 0.141174 0.2247 0.0248 0.147 0.1868 0.1094 0.21 0.03 0.18 0.18 0.1828 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470384 NA NA 0.216512 0.16424 NA 0.159 NA 7.0426546 956 8 25287397 25287397 T C exonic KCTD9 NA synonymous SNV KCTD9:NM_017634:exon12:c.A1146G:p.L382L exonic ENSG00000104756 NA synonymous SNV ENSG00000104756:ENST00000221200:exon12:c.A1146G:p.L382L Score=649;Name=lod=580 NA 8p21.2 Score=992;Name=V$EN1_01 NA NA NA rs1812594 0.19 0.19 0.155 0.161542 0.2167 0.2421 0.1988 0.062 0.1299 0.21 0.25 0.2 0.07 0.199 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064708 NA NA 0.208605 0.089877 NA 0.08 NA 7.0423616 956 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 956 4 184615117 184615117 A C exonic TRAPPC11 NA nonsynonymous SNV TRAPPC11:NM_021942:exon22:c.A2434C:p.T812P,TRAPPC11:NM_199053:exon22:c.A2434C:p.T812P exonic ENSG00000168538 NA nonsynonymous SNV ENSG00000168538:ENST00000512476:exon11:c.A1252C:p.T418P,ENSG00000168538:ENST00000334690:exon22:c.A2434C:p.T812P,ENSG00000168538:ENST00000357207:exon22:c.A2434C:p.T812P NA NA 4q35.1 NA NA NA NA rs62358032 0.06 0.06 0.052 0.0439297 0.0944 0.0268 0.0375 0.0045 0.0675 0.11 0.03 0.06 0.01 0.0828 0.12 0.3 T 0.175 B 0.21 B 0.021 N 0.998 P 0.755 N . . -1.057 T 0.001 T 0.18 1.762 11.85 -1.58 -0.468 0.463 7.156 1.761997 1.761997 0.07 0.11593 0.022696 NA 0.029 NA 7.0402034 956 3 27490194 27490194 T C exonic SLC4A7 NA synonymous SNV SLC4A7:NM_001258379:exon3:c.A225G:p.R75R,SLC4A7:NM_001258380:exon3:c.A210G:p.R70R,SLC4A7:NM_003615:exon3:c.A210G:p.R70R exonic ENSG00000033867 NA synonymous SNV ENSG00000033867:ENST00000295736:exon3:c.A210G:p.R70R,ENSG00000033867:ENST00000425128:exon3:c.A225G:p.R75R,ENSG00000033867:ENST00000428179:exon3:c.A210G:p.R70R,ENSG00000033867:ENST00000428386:exon3:c.A210G:p.R70R,ENSG00000033867:ENST00000435667:exon3:c.A237G:p.R79R,ENSG00000033867:ENST00000437179:exon3:c.A225G:p.R75R,ENSG00000033867:ENST00000437266:exon3:c.A225G:p.R75R,ENSG00000033867:ENST00000438530:exon3:c.A225G:p.R75R,ENSG00000033867:ENST00000440156:exon3:c.A237G:p.R79R,ENSG00000033867:ENST00000445684:exon3:c.A237G:p.R79R,ENSG00000033867:ENST00000446700:exon3:c.A225G:p.R75R,ENSG00000033867:ENST00000454389:exon3:c.A237G:p.R79R,ENSG00000033867:ENST00000455077:exon3:c.A225G:p.R75R,ENSG00000033867:ENST00000457377:exon3:c.A225G:p.R75R Score=607;Name=lod=391 NA 3p24.1 Score=861;Name=V$EVI1_01 NA NA NA rs13096477 0.12 0.12 0.099 0.120807 0.2107 0.0565 0.1527 0.034 0.1892 0.21 0.03 0.18 0.03 0.1847 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.631565 1.631565 NA 0.231279 0.068089 NA 0.072 NA 7.0399876 956 3 123303821 123303821 G C exonic PTPLB NA synonymous SNV PTPLB:NM_198402:exon1:c.C54G:p.G18G exonic ENSG00000206527 NA synonymous SNV ENSG00000206527:ENST00000383657:exon1:c.C54G:p.G18G Score=489;Name=lod=130 NA 3q21.1 NA Name=YY1,ZBTB7A_(SC-34508),CCNT2,TBP,Egr-1,Sin3Ak-20,YY1_(C-20),HEY1,ELF1_(SC-631),Pol2-4H8,HMGN3,TAF1,NFKB,TAF7_(SQ-8),Pol2,Pol2(phosphoS2) NA NA rs1271004 0.39 0.39 0.3 0.405751 0.1779 0.629 0.3818 0.4811 0.3252 0.19 0.64 0.34 0.43 0.3267 0.64 NA NA 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 0.123686 0.255305 ID=COSM1566307;OCCURENCE=1(large_intestine) 0.051 NA 7.0383806 956 11 66083129 66083129 T C exonic CD248 NA nonsynonymous SNV CD248:NM_020404:exon1:c.A1370G:p.H457R exonic ENSG00000174807 NA nonsynonymous SNV ENSG00000174807:ENST00000311330:exon1:c.A1370G:p.H457R NA NA 11q13.2 NA NA NA NA rs3741367 0.35 0.35 0.3 0.292133 0.4433 0.2093 0.5476 0.1732 0.2014 0.44 0.23 0.52 0.21 0.3995 0.52 1 T 0.0 B 0.0 B 0.146 N 1.000 P -0.46 N -1.93 D -0.993 T 0.000 T 0.044 -2.986 0.001 1.57 0.252 -0.028 6.626 -2.985667 NA 1 0.45227 0.227045 NA 0.399 NA 7.0382634 956 19 4102449 4102449 G A exonic MAP2K2 NA synonymous SNV MAP2K2:NM_030662:exon4:c.C453T:p.D151D exonic ENSG00000126934 NA synonymous SNV ENSG00000126934:ENST00000262948:exon4:c.C453T:p.D151D,ENSG00000126934:ENST00000394867:exon5:c.C162T:p.D54D Score=374;Name=lod=44 NA 19p13.3 NA NA NA NA rs17851657 0.11 0.11 0.118 0.111222 0.2038 0.0526 0.0994 0.0197 0.2086 0.21 0.04 0.11 0.03 0.2315 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.78854 NA NA 0.193391 0.043864 ID=COSM1129849;OCCURENCE=1(prostate) 0.181 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039484.1|RCV000126670.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.0379756 956 22 42912029 42912029 G T exonic RRP7A NA synonymous SNV RRP7A:NM_015703:exon3:c.C330A:p.P110P exonic ENSG00000189306 NA synonymous SNV ENSG00000189306:ENST00000323013:exon3:c.C330A:p.P110P NA NA 22q13.2 NA Name=TCF4 Name=6 NA rs3201001 0.22 0.22 0.252 0.234625 0.1978 0.1468 0.1239 0.3896 0.2321 0.19 0.15 0.12 0.4 0.2179 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.287511 NA NA 0.213023 0.355878 NA 0.225 NA 7.0379436 956 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 956 19 17922795 17922795 G A exonic B3GNT3 NA nonsynonymous SNV B3GNT3:NM_014256:exon3:c.G983A:p.R328H exonic ENSG00000179913 NA nonsynonymous SNV ENSG00000179913:ENST00000318683:exon3:c.G983A:p.R328H,ENSG00000179913:ENST00000595387:exon3:c.G983A:p.R328H NA NA 19p13.11 NA NA NA NA rs36686 0.75 0.75 0.733 0.740016 0.7783 0.505 0.7666 0.8941 0.7157 0.79 0.52 0.79 0.9 0.7637 0.9 0.41 T 0.448 B 0.049 B 0.097 N 1.000 P 1.795 L 0.99 T -0.981 T 0.000 T 0.038 0.548 6.966 3.1 1.225 -0.546 5.127 0.548188 NA 0.15 0.755 0.877213 NA 0.754 NA 7.0363334 956 6 25605091 25605091 G A exonic LRRC16A NA nonsynonymous SNV LRRC16A:NM_001173977:exon34:c.G3604A:p.G1202S,LRRC16A:NM_017640:exon34:c.G3604A:p.G1202S exonic ENSG00000079691 NA nonsynonymous SNV ENSG00000079691:ENST00000329474:exon34:c.G3604A:p.G1202S NA NA 6p22.2 NA NA NA NA rs1012899 0.79 0.79 0.812 0.801318 0.7445 0.869 0.7695 0.7867 0.8323 0.75 0.9 0.79 0.75 0.7898 0.9 0.94 T 0.0 B 0.0 B 0.193 N 0.819 P -0.41 N 2.54 T -0.923 T 0.004 T 0.016 -1.157 0.098 4.39 0.927 1.280 8.421 -1.156985 NA 0.7 0.762933 0.796233 NA 0.841 NA 7.0361004 956 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 957 3 194081179 194081179 G A exonic LRRC15 NA synonymous SNV LRRC15:NM_130830:exon2:c.C594T:p.N198N,LRRC15:NM_001135057:exon3:c.C612T:p.N204N exonic ENSG00000172061 NA synonymous SNV ENSG00000172061:ENST00000347624:exon2:c.C594T:p.N198N,ENSG00000172061:ENST00000439944:exon2:c.C612T:p.N204N,ENSG00000172061:ENST00000428839:exon3:c.C612T:p.N204N Score=475;Name=lod=114 NA 3q29 Score=734;Name=V$NRSF_01 NA NA NA rs11715737 0.14 0.14 0.134 0.116613 0.2107 0.0685 0.1052 0.093 0.1094 0.23 0.08 0.12 0.09 0.187 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373857 NA NA 0.23407 0.098048 NA 0.159 NA 7.0348966 957 1 182356399 182356399 A G exonic GLUL NA synonymous SNV GLUL:NM_001033044:exon3:c.T195C:p.S65S,GLUL:NM_001033056:exon3:c.T195C:p.S65S,GLUL:NM_002065:exon4:c.T195C:p.S65S exonic ENSG00000135821 NA synonymous SNV ENSG00000135821:ENST00000331872:exon3:c.T195C:p.S65S,ENSG00000135821:ENST00000339526:exon3:c.T195C:p.S65S,ENSG00000135821:ENST00000417584:exon3:c.T195C:p.S65S,ENSG00000135821:ENST00000311223:exon4:c.T195C:p.S65S Score=605;Name=lod=382 NA 1q25.3 NA Name=BRF2 Name=2 NA rs1058111 0.66 0.66 0.648 0.675719 0.5408 0.8323 0.6167 0.7496 0.5951 0.52 0.81 0.62 0.73 0.5748 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 1.802334 1.802334 NA 0.516395 0.735134 NA 0.601 NA 7.0346716 957 1 227071525 227071525 C T exonic PSEN2 NA synonymous SNV PSEN2:NM_000447:exon5:c.C261T:p.H87H,PSEN2:NM_012486:exon5:c.C261T:p.H87H exonic ENSG00000143801 NA synonymous SNV ENSG00000143801:ENST00000496965:exon2:c.C261T:p.H87H,ENSG00000143801:ENST00000391872:exon3:c.C360T:p.H120H,ENSG00000143801:ENST00000495488:exon4:c.C261T:p.H87H,ENSG00000143801:ENST00000340188:exon5:c.C261T:p.H87H,ENSG00000143801:ENST00000366782:exon5:c.C360T:p.H120H,ENSG00000143801:ENST00000366783:exon5:c.C261T:p.H87H,ENSG00000143801:ENST00000422240:exon5:c.C261T:p.H87H Score=536;Name=lod=201 NA 1q42.13 Score=934;Name=V$USF_02 NA NA Score=112;Name=217200_1_-_112 rs1046240 0.48 0.48 0.495 0.443291 0.5934 0.3859 0.4827 0.3646 0.4264 0.6 0.41 0.53 0.35 0.4991 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.161003 NA NA 0.539535 0.393781 NA 0.572 NA 7.0346316 957 15 56152729 56152729 T C exonic NEDD4 NA nonsynonymous SNV NEDD4:NM_198400:exon4:c.A1877G:p.N626S,NEDD4:NM_006154:exon11:c.A836G:p.N279S exonic ENSG00000069869 NA nonsynonymous SNV ENSG00000069869:ENST00000338963:exon4:c.A1877G:p.N626S,ENSG00000069869:ENST00000506154:exon7:c.A2045G:p.N682S,ENSG00000069869:ENST00000508342:exon7:c.A2093G:p.N698S,ENSG00000069869:ENST00000435532:exon11:c.A836G:p.N279S NA NA 15q21.3 NA NA NA NA rs2303579 0.68 0.68 0.668 0.67472 0.7624 0.5972 0.6398 0.6218 0.7607 0.77 0.59 0.69 0.63 0.7415 0.8 1 T 0.001 B 0.002 B 0.985 N 1.000 P -0.255 N 2.26 T -1.025 T 0.000 T 0.048 -0.281 2.656 -6.96 -2.027 -0.111 6.907 -0.280867 NA 0.49 0.795433 0.613315 NA 0.667 NA 7.0340004 957 11 1861760 1861760 T C exonic TNNI2 NA synonymous SNV TNNI2:NM_001145841:exon3:c.T60C:p.S20S exonic ENSG00000130598 NA synonymous SNV ENSG00000130598:ENST00000381905:exon3:c.T60C:p.S20S,ENSG00000130598:ENST00000252898:exon4:c.T60C:p.S20S,ENSG00000130598:ENST00000381906:exon5:c.T60C:p.S20S,ENSG00000130598:ENST00000381911:exon5:c.T60C:p.S20S Score=429;Name=lod=74 NA 11p15.5 Score=911;Name=V$OCT1_06 NA Name=2 NA rs907610 0.85 0.85 0.83 0.827676 0.8847 0.9861 0.8703 0.612 0.8671 0.88 0.99 0.86 0.63 0.876 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 -0.081818 NA NA 0.872085 0.668568 NA 0.804 CLINSIG=other|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|not;CLNACC=RCV000080081.3|RCV000128669.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.0338816 957 19 52090014 52090014 C T exonic ZNF175 NA nonsynonymous SNV ZNF175:NM_007147:exon5:c.C430T:p.R144C exonic ENSG00000105497 NA nonsynonymous SNV ENSG00000105497:ENST00000262259:exon5:c.C430T:p.R144C NA NA 19q13.41 NA NA NA NA rs35625154 0.06 0.06 0.057 0.0433307 0.1083 0.001 0.072 0.0204 0.0307 0.11 0.0017 0.09 0.02 0.076 0.12 0.19 T 0.0 B 0.0 B . . 1.000 N 0 N 3.14 T -0.921 T 0.000 T 0.009 0.231 5.249 0.051 0.090 -0.571 2.957 0.231416 NA 0.02 0.115233 0.032456 NA 0.014 NA 7.0338004 957 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 957 14 94780608 94780608 G A exonic SERPINA6 NA synonymous SNV SERPINA6:NM_001756:exon2:c.C378T:p.T126T exonic ENSG00000170099 NA synonymous SNV ENSG00000170099:ENST00000341584:exon2:c.C378T:p.T126T,ENSG00000170099:ENST00000555056:exon2:c.C378T:p.T126T,ENSG00000170099:ENST00000557225:exon2:c.C378T:p.T126T NA NA 14q32.13 NA Name=Pol2 Name=59 NA rs3748320 0.16 0.16 0.152 0.143371 0.2416 0.0804 0.1254 0.1021 0.1759 0.26 0.09 0.14 0.09 0.1818 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.136953 NA NA 0.21 0.131639 NA 0.123 NA 7.0332666 957 10 32856746 32856746 A C exonic CCDC7 NA nonsynonymous SNV CCDC7:NM_001026383:exon16:c.A1346C:p.K449T,CCDC7:NM_145023:exon16:c.A1346C:p.K449T exonic ENSG00000216937 NA nonsynonymous SNV ENSG00000216937:ENST00000435402:exon4:c.A353C:p.K118T,ENSG00000216937:ENST00000277657:exon16:c.A1346C:p.K449T,ENSG00000216937:ENST00000362006:exon16:c.A1346C:p.K449T NA NA 10p11.22 NA NA NA NA rs12268559 0.13 0.13 0.105 0.165335 0.0875 0.1726 0.2421 0.0893 0.2863 0.09 0.17 0.19 0.08 0.1282 0.19 0.11 T 0.356 B 0.082 B . . 1.000 P 0.805 L 0.94 T -1.090 T 0.000 T 0.371 1.506 10.99 1.37 0.037 0.009 4.314 1.506391 1.506391 0.08 0.084438 0.082388 NA 0.152 NA 7.0331954 957 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 957 14 69352230 69352230 G A exonic ACTN1 NA synonymous SNV ACTN1:NM_001102:exon12:c.C1297T:p.L433L,ACTN1:NM_001130004:exon12:c.C1297T:p.L433L,ACTN1:NM_001130005:exon12:c.C1297T:p.L433L exonic ENSG00000072110 NA synonymous SNV ENSG00000072110:ENST00000544964:exon2:c.C67T:p.L23L,ENSG00000072110:ENST00000193403:exon12:c.C1297T:p.L433L,ENSG00000072110:ENST00000376839:exon12:c.C1102T:p.L368L,ENSG00000072110:ENST00000394419:exon12:c.C1297T:p.L433L,ENSG00000072110:ENST00000438964:exon12:c.C1297T:p.L433L,ENSG00000072110:ENST00000538545:exon12:c.C1297T:p.L433L Score=612;Name=lod=409 NA 14q24.1 NA Name=Pol2-4H8 NA NA rs15993 0.2 0.2 0.154 0.231629 0.1918 0.1796 0.3991 0.149 0.319 0.2 0.16 0.36 0.14 0.2384 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.398117 1.398117 NA 0.203837 0.144122 NA 0.196 NA 7.0326296 957 8 17814915 17814915 A G exonic PCM1 NA nonsynonymous SNV PCM1:NM_006197:exon12:c.A1789G:p.M597V exonic ENSG00000078674 NA nonsynonymous SNV ENSG00000078674:ENST00000524226:exon11:c.A1789G:p.M597V,ENSG00000078674:ENST00000325083:exon12:c.A1789G:p.M597V,ENSG00000078674:ENST00000519253:exon12:c.A1789G:p.M597V,ENSG00000078674:ENST00000517730:exon13:c.A1906G:p.M636V NA NA 8p22 NA NA NA NA rs208753 0.72 0.72 0.746 0.692891 0.7624 0.63 0.6297 0.8132 0.5685 0.78 0.62 0.63 0.81 0.7362 0.84 0.29 T 0.0 B 0.002 B 0.000 N 0.000 P 1.61 L 1.59 T -1.018 T 0.000 T 0.036 -0.95 0.342 -4.09 -1.165 0.495 2.018 -0.95013 NA 0.32 0.802202 0.842473 NA 0.71 NA 7.0325314 957 9 140139757 140139757 G A splicing FAM166A NM_001001710:exon4:c.522+2C>T NA NA splicing ENSG00000188163 ENST00000471784:exon4:c.522+2C>T,ENST00000344774:exon4:c.522+2C>T,ENST00000388932:exon4:c.522+2C>T,ENST00000484720:exon3:c.603+2C>T NA NA NA NA 9q34.3 NA Name=CTCF Name=14 NA rs9775264 1 1 0.998 0.997005 0.9881 1 0.9957 1 1 0.99 1 1 1 0.9928 1 . . . . . . . . 0.000 P . . . . . . . . . 0.12 4.646 4.09 0.307 1.445 7.137 0.120024 NA NA 0.987558 0.997957 NA 0.993 NA 7.031542 957 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 957 16 3724465 3724465 G C exonic TRAP1 NA nonsynonymous SNV TRAP1:NM_001272049:exon8:c.C760G:p.R254G,TRAP1:NM_016292:exon9:c.C919G:p.R307G exonic ENSG00000126602 NA nonsynonymous SNV ENSG00000126602:ENST00000575671:exon4:c.C292G:p.R98G,ENSG00000126602:ENST00000576335:exon5:c.C292G:p.R98G,ENSG00000126602:ENST00000538171:exon8:c.C760G:p.R254G,ENSG00000126602:ENST00000246957:exon9:c.C919G:p.R307G NA NA 16p13.3 NA NA Name=4 NA rs13926 0.39 0.39 0.378 0.392772 0.4394 0.5605 0.4496 0.1082 0.5164 0.44 0.51 0.43 0.13 0.4372 0.51 0.27 T 0.0 B 0.0 B 0.006 N 0.727 P -0.895 N 2.33 T -0.927 T 0.000 T 0.118 -0.011 3.959 -1.77 -0.455 0.012 13.485 -0.010686 NA 0.26 0.426395 0.146336 NA 0.312 NA 7.0303384 957 20 23586360 23586360 G A exonic CST9 NA nonsynonymous SNV CST9:NM_001008693:exon1:c.C142T:p.L48F exonic ENSG00000173335 NA nonsynonymous SNV ENSG00000173335:ENST00000376971:exon1:c.C142T:p.L48F NA NA 20p11.21 NA NA NA NA rs2983640 0.52 0.52 0.458 0.455072 0.6302 0.6796 0.6182 0.0915 0.4192 0.65 0.66 0.62 0.09 0.5662 0.66 0.72 T 0.989 D 0.87 P 0.570 N 1.000 P 0.895 L 1.75 T -0.903 T 0.000 T 0.045 0.355 5.925 -1.91 -0.396 -0.154 2.682 0.35465 NA 0.66 0.60686 0.161371 NA 0.478 NA 7.0300734 957 19 36595436 36595436 A C exonic WDR62 NA nonsynonymous SNV WDR62:NM_001083961:exon31:c.A4170C:p.L1390F,WDR62:NM_173636:exon31:c.A4155C:p.L1385F exonic ENSG00000075702 NA nonsynonymous SNV ENSG00000075702:ENST00000270301:exon31:c.A4155C:p.L1385F,ENSG00000075702:ENST00000401500:exon31:c.A4170C:p.L1390F NA NA 19q13.12 NA Name=Pol2 Name=14 NA rs1008328 0.77 0.77 0.746 0.716254 0.7843 0.752 0.781 0.7035 0.5808 0.78 0.79 0.77 0.71 0.7428 0.79 0.7 T 0.002 B 0.003 B 0.000 N 1.000 P 0 N 0.92 T -0.954 T 0.000 T 0.015 0.356 5.933 1.96 0.303 0.322 2.866 0.356107 NA 0.7 0.776279 0.695869 ID=COSM1129883;OCCURENCE=1(prostate) 0.717 NA 7.0299544 957 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=CTCF,AP-2gamma,AP-2alpha 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 957 2 141260668 141260668 A G exonic LRP1B NA synonymous SNV LRP1B:NM_018557:exon54:c.T8526C:p.Y2842Y exonic ENSG00000168702 NA synonymous SNV ENSG00000168702:ENST00000389484:exon54:c.T8526C:p.Y2842Y Score=381;Name=lod=47 NA 2q22.1 NA Name=STAT3,c-Fos Name=82 NA rs4444457 0.56 0.56 0.555 0.543131 0.5388 0.7222 0.451 0.466 0.5327 0.54 0.71 0.47 0.47 0.549 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.064596 NA NA 0.549767 0.499546 NA 0.457 NA 7.0290996 957 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 957 16 3293888 3293888 C T exonic MEFV NA nonsynonymous SNV MEFV:NM_001198536:exon8:c.G1306A:p.G436R exonic ENSG00000103313 NA nonsynonymous SNV ENSG00000103313:ENST00000541159:exon8:c.G1306A:p.G436R NA NA 16p13.3 NA NA NA NA rs1231122 0.38 0.38 0.377 0.353634 0.4423 0.3958 0.3746 0.3306 0.2352 0.44 0.39 0.37 0.29 0.3967 0.47 0.26 T . . . . . . 1.000 P . . -0.16 T -0.947 T 0.000 T . -0.81 0.649 -0.232 -0.445 0.169 0.975 -0.810459 NA NA 0.465465 0.341602 NA 0.377 CLINSIG=non-pathogenic;CLNDBN=Familial_Mediterranean_fever;CLNREVSTAT=single;CLNACC=RCV000030177.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1227:C0031069:249100:ORPHA342:12579009 7.0288684 957 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 957 16 84203612 84203612 A G exonic DNAAF1 NA nonsynonymous SNV DNAAF1:NM_178452:exon8:c.A1178G:p.K393R exonic ENSG00000154099 NA nonsynonymous SNV ENSG00000154099:ENST00000334315:exon8:c.A1178G:p.K393R,ENSG00000154099:ENST00000378553:exon8:c.A1178G:p.K393R,ENSG00000154099:ENST00000563093:exon8:c.A1178G:p.K393R NA NA 16q24.1 NA Name=CTCF NA NA rs17856705 0.36 0.36 0.363 0.321086 0.4473 0.3403 0.4063 0.1853 0.2945 0.45 0.37 0.4 0.2 0.4 0.46 0.47 T 0.002 B 0.003 B 0.208 N 1.000 P 1.61 L 1.78 T -0.931 T 0.000 T 0.056 1.093 9.46 0.133 -0.189 0.630 1.017 1.092818 NA 0.25 0.457316 0.225227 ID=COSM148127;OCCURENCE=1(stomach) 0.304 NA 7.0287174 957 20 22562674 22562674 T C exonic FOXA2 NA synonymous SNV FOXA2:NM_021784:exon2:c.A1206G:p.Q402Q,FOXA2:NM_153675:exon3:c.A1188G:p.Q396Q exonic ENSG00000125798 NA synonymous SNV ENSG00000125798:ENST00000319993:exon2:c.A1206G:p.Q402Q,ENSG00000125798:ENST00000419308:exon2:c.A1188G:p.Q396Q,ENSG00000125798:ENST00000377115:exon3:c.A1188G:p.Q396Q Score=688;Name=lod=830 NA 20p11.21 Score=743;Name=V$NRSF_01 Name=TAF1 Name=5 NA rs1212275 0.94 0.94 0.931 0.95607 0.8738 1 0.9078 0.9962 0.9755 0.87 1 0.9 0.99 0.9015 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.999019 NA NA 0.863488 0.970495 NA 0.739 NA 7.0278786 957 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 957 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 957 20 5903517 5903517 A G exonic CHGB NA nonsynonymous SNV CHGB:NM_001819:exon4:c.A727G:p.T243A exonic ENSG00000089199 NA nonsynonymous SNV ENSG00000089199:ENST00000378961:exon4:c.A727G:p.T243A,ENSG00000089199:ENST00000455042:exon5:c.A667G:p.T223A NA NA 20p12.3 NA NA NA NA rs236151 0.87 0.87 0.889 0.86861 0.7614 0.997 0.83 0.9304 0.7904 0.77 1 0.77 0.95 0.8029 1 0.56 T 0.0 B 0.002 B 0.056 N 1.000 P 1.245 L 4.62 T -1.025 T 0.000 T 0.106 0.187 5.009 -3.85 -1.215 -0.357 3.469 0.187394 NA 0.36 0.742791 0.907172 NA 0.935 NA 7.0262424 957 11 7687715 7687715 T C exonic CYB5R2 NA nonsynonymous SNV CYB5R2:NM_016229:exon8:c.A625G:p.N209D exonic ENSG00000166394 NA nonsynonymous SNV ENSG00000166394:ENST00000299497:exon8:c.A625G:p.N209D,ENSG00000166394:ENST00000299498:exon8:c.A625G:p.N209D,ENSG00000166394:ENST00000524790:exon8:c.A625G:p.N209D,ENSG00000166394:ENST00000533558:exon8:c.A625G:p.N209D NA NA 11p15.4 NA NA NA NA rs12801394 0.79 0.79 0.78 0.786342 0.7634 0.8165 0.6787 0.8525 0.7658 0.77 0.81 0.7 0.85 0.7733 0.85 0.07 T 0.0 B 0.001 B 0.967 N 1.000 P 0.625 N -2.13 D -0.928 T 0.000 T 0.022 0.789 8.16 -0.576 -0.687 1.336 8.130 0.78925 NA 0.06 0.770601 0.852113 NA 0.732 NA 7.0260324 957 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 957 2 71221822 71221822 A G exonic TEX261 NA synonymous SNV TEX261:NM_144582:exon1:c.T66C:p.A22A exonic ENSG00000144043,ENSG00000258881 NA nonsynonymous SNV ENSG00000258881:ENST00000453130:exon1:c.T58C:p.C20R Score=609;Name=lod=398 NA 2p13.3 NA Name=Pol2,Pol2-4H8,HEY1 NA NA rs2302561 0.36 0.36 0.283 0.364018 0.3221 0.1895 0.4467 0.5908 0.2219 0.31 0.2 0.43 0.56 0.3625 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.439577 3.439577 NA 0.289639 0.551434 NA 0.37 NA 7.025761 957 3 17053499 17053499 A G exonic PLCL2 NA synonymous SNV PLCL2:NM_015184:exon2:c.A2283G:p.G761G exonic ENSG00000154822 NA synonymous SNV ENSG00000154822:ENST00000396755:exon2:c.A2283G:p.G761G,ENSG00000154822:ENST00000418129:exon2:c.A2283G:p.G761G,ENSG00000154822:ENST00000432376:exon2:c.A2283G:p.G761G Score=491;Name=lod=132 NA 3p24.3 NA NA NA NA rs4602367 0.58 0.58 0.549 0.622204 0.5338 0.626 0.5821 0.674 0.6677 0.53 0.61 0.5 0.67 0.5796 0.67 . . . . . . . . 0.000 P . . . . -0.942 T 0.000 T . 1.094 9.466 3.92 0.352 0.418 7.730 1.094255 NA NA 0.527558 0.634135 NA 0.58 NA 7.0257086 957 20 62332641 62332641 T C intronic ARFRP1 NA NA NA exonic ENSG00000101246 NA unknown UNKNOWN NA NA 20q13.33 NA Name=Pol2 NA NA rs2257818 NA NA NA 0.263179 0.2028 0.6458 0.2622 0.0242 0.2546 NA NA NA NA 0.2721 0.12 . . . . . . . . 0.015 P . . . . -0.995 T 0.067 T . 0.371 6.016 -0.037 -0.035 -1.269 2.991 0.371412 NA NA NA NA NA 0.138 NA 7.0251 957 9 712137 712137 G C exonic KANK1 NA synonymous SNV KANK1:NM_153186:exon2:c.G897C:p.L299L,KANK1:NM_015158:exon3:c.G1371C:p.L457L,KANK1:NM_001256877:exon4:c.G1371C:p.L457L,KANK1:NM_001256876:exon7:c.G1371C:p.L457L exonic ENSG00000107104 NA synonymous SNV ENSG00000107104:ENST00000382293:exon2:c.G897C:p.L299L,ENSG00000107104:ENST00000382297:exon3:c.G1371C:p.L457L,ENSG00000107104:ENST00000382303:exon7:c.G1371C:p.L457L Score=519;Name=lod=172 NA 9p24.3 NA NA Name=6 NA rs912175 0.2 0.2 0.16 0.183307 0.2107 0.1925 0.2968 0.1823 0.0665 0.2 0.17 0.3 0.15 0.211 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.200998 NA NA 0.219884 0.179982 ID=COSM150569;OCCURENCE=1(stomach) 0.152 NA 7.0250826 958 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 958 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$MYOGNF1_01 NA NA NA rs1047385 0.23 0.23 0.21 0.2498 0.1978 0.1796 0.1945 0.3192 0.3211 0.22 0.19 0.2 0.32 0.2332 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.651166 NA NA 0.211279 0.292329 NA 0.246 NA 7.0243876 958 4 11401087 11401087 A G exonic HS3ST1 NA synonymous SNV HS3ST1:NM_005114:exon2:c.T543C:p.D181D exonic ENSG00000002587 NA synonymous SNV ENSG00000002587:ENST00000002596:exon2:c.T543C:p.D181D Score=507;Name=lod=153 NA 4p15.33 Score=783;Name=V$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 958 7 147092861 147092861 G A exonic CNTNAP2 NA synonymous SNV CNTNAP2:NM_014141:exon10:c.G1659A:p.A553A exonic ENSG00000174469 NA synonymous SNV ENSG00000174469:ENST00000361727:exon10:c.G1659A:p.A553A Score=552;Name=lod=234 NA 7q35 NA NA NA NA rs34592169 0.11 0.11 0.089 0.0936502 0.2207 0.006 0.1599 0.0197 0.1063 0.23 0.0035 0.16 0.01 0.1875 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.020031 NA NA 0.234938 0.055833 NA 0.087 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081587.3;CLNDSDB=.;CLNDSDBID=. 7.0235286 958 10 81706324 81706324 A G exonic SFTPD NA nonsynonymous SNV SFTPD:NM_003019:exon2:c.T92C:p.M31T exonic ENSG00000133661 NA nonsynonymous SNV ENSG00000133661:ENST00000372292:exon2:c.T92C:p.M31T,ENSG00000133661:ENST00000444384:exon2:c.T131C:p.M44T NA NA 10q22.3 NA NA NA NA rs721917 0.47 0.47 0.451 0.504593 0.4205 0.6151 0.379 0.4009 0.7065 0.41 0.62 0.41 0.41 0.47 0.62 0.68 T 0.0 B 0.0 B 0.225 N 1.000 P 0 N -2.62 D -1.012 T 0.000 T 0.428 0.69 7.685 -1.35 -0.475 -0.298 6.106 0.689886 NA 0.02 0.419767 0.401498 NA 0.312 NA 7.0230664 958 19 6919753 6919753 A G exonic EMR1 NA nonsynonymous SNV EMR1:NM_001256254:exon10:c.A1192G:p.I398V,EMR1:NM_001256255:exon10:c.A1084G:p.I362V,EMR1:NM_001256252:exon12:c.A1459G:p.I487V,EMR1:NM_001256253:exon13:c.A1615G:p.I539V,EMR1:NM_001974:exon13:c.A1615G:p.I539V exonic ENSG00000174837 NA nonsynonymous SNV ENSG00000174837:ENST00000381407:exon10:c.A1192G:p.I398V,ENSG00000174837:ENST00000450315:exon10:c.A1084G:p.I362V,ENSG00000174837:ENST00000381404:exon12:c.A1459G:p.I487V,ENSG00000174837:ENST00000250572:exon13:c.A1615G:p.I539V,ENSG00000174837:ENST00000312053:exon13:c.A1615G:p.I539V Score=272;Name=lod=17 NA 19p13.2 NA NA NA NA rs461645 0.75 0.75 0.715 0.721246 0.7584 0.7808 0.7997 0.5915 0.7413 0.78 0.82 0.83 0.57 0.7649 0.83 0.69 T 0.006 B 0.007 B . . 1.000 P 0.895 L 0.32 T -0.957 T 0.000 T 0.057 1.021 9.172 -0.139 -0.217 0.955 9.259 1.021348 NA 0.42 0.787674 0.606219 NA 0.601 NA 7.0223594 958 3 124044949 124044949 C T exonic KALRN NA synonymous SNV KALRN:NM_001024660:exon7:c.C1209T:p.F403F,KALRN:NM_003947:exon7:c.C1209T:p.F403F exonic ENSG00000160145 NA synonymous SNV ENSG00000160145:ENST00000240874:exon7:c.C1209T:p.F403F,ENSG00000160145:ENST00000360013:exon7:c.C1209T:p.F403F,ENSG00000160145:ENST00000460856:exon7:c.C1209T:p.F403F Score=524;Name=lod=179 NA 3q21.2 NA NA NA NA rs2289778 0.76 0.76 0.767 0.753594 0.8897 0.7837 0.8112 0.5038 0.8793 0.9 0.77 0.81 0.51 0.8567 0.9 . . . . . . . . 0.000 P . . . . -1.078 T 0.000 T . 1.181 9.803 -6.99 -1.602 -0.706 18.456 1.180958 NA NA 0.898372 0.589197 NA 0.79 NA 7.0218946 958 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 958 14 64988924 64988924 T C exonic ZBTB1 NA synonymous SNV ZBTB1:NM_001123329:exon2:c.T702C:p.H234H,ZBTB1:NM_014950:exon2:c.T702C:p.H234H exonic ENSG00000126804 NA synonymous SNV ENSG00000126804:ENST00000358738:exon2:c.T702C:p.H234H,ENSG00000126804:ENST00000394712:exon2:c.T702C:p.H234H,ENSG00000126804:ENST00000554015:exon4:c.T702C:p.H234H Score=551;Name=lod=231 NA 14q23.3 Score=899;Name=V$MYCMAX_02 NA NA NA rs10133411 0.17 0.17 0.154 0.162141 0.2326 0.2083 0.1254 0.0401 0.2331 0.24 0.18 0.15 0.05 0.1937 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213763 NA NA 0.218953 0.078756 NA 0.167 NA 7.0214136 958 14 64988279 64988279 A G exonic ZBTB1 NA synonymous SNV ZBTB1:NM_001123329:exon2:c.A57G:p.E19E,ZBTB1:NM_014950:exon2:c.A57G:p.E19E exonic ENSG00000126804 NA synonymous SNV ENSG00000126804:ENST00000358738:exon2:c.A57G:p.E19E,ENSG00000126804:ENST00000394712:exon2:c.A57G:p.E19E,ENSG00000126804:ENST00000553583:exon2:c.A57G:p.E19E,ENSG00000126804:ENST00000556965:exon2:c.A57G:p.E19E,ENSG00000126804:ENST00000554015:exon4:c.A57G:p.E19E,ENSG00000126804:ENST00000555321:exon4:c.A57G:p.E19E Score=690;Name=lod=850 NA 14q23.3 Score=739;Name=V$SEF1_C NA NA NA rs28626711 0.17 0.17 0.15 0.162141 0.2326 0.2083 0.1254 0.0401 0.2331 0.24 0.18 0.15 0.05 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 1.249515 1.249515 NA 0.21907 0.078756 NA 0.152 NA 7.0211966 958 13 32929232 32929232 A G exonic BRCA2 NA synonymous SNV BRCA2:NM_000059:exon14:c.A7242G:p.S2414S exonic ENSG00000139618 NA synonymous SNV ENSG00000139618:ENST00000380152:exon14:c.A7242G:p.S2414S,ENSG00000139618:ENST00000544455:exon14:c.A7242G:p.S2414S NA NA 13q13.1 Score=834;Name=V$GFI1_01 NA NA NA rs1799955 0.25 0.25 0.231 0.232628 0.2087 0.369 0.1988 0.2073 0.1748 0.22 0.39 0.2 0.16 0.2244 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.884821 NA NA 0.213256 0.207671 NA 0.246 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_2|not_provided|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=mult|single|single;CLNACC=RCV000113739.2|RCV000123992.1|RCV000130994.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.|MedGen;CLNDSDBID=NBK1247:C2675520:612555:ORPHA145|.|C0027672 7.0203106 958 22 36900271 36900271 T C exonic FOXRED2 NA nonsynonymous SNV FOXRED2:NM_001102371:exon4:c.A923G:p.N308S,FOXRED2:NM_024955:exon4:c.A923G:p.N308S exonic ENSG00000100350 NA nonsynonymous SNV ENSG00000100350:ENST00000397223:exon3:c.A923G:p.N308S,ENSG00000100350:ENST00000216187:exon4:c.A923G:p.N308S,ENSG00000100350:ENST00000397224:exon4:c.A923G:p.N308S NA NA 22q12.3 NA NA NA NA rs2277841 0.67 0.67 0.671 0.649361 0.7823 0.2143 0.8127 0.9062 0.498 0.78 0.25 0.81 0.89 0.729 0.89 0.76 T 0.0 B 0.001 B 0.716 N 1.000 P 0.69 N 2.5 T -1.033 T 0.000 T 0.002 -2.54 0.003 -6.48 -2.059 -0.320 6.693 -2.540449 NA 0.76 0.802093 0.894008 NA 0.783 NA 7.0199404 958 22 50928026 50928026 G A exonic MIOX NA synonymous SNV MIOX:NM_017584:exon9:c.G702A:p.L234L exonic ENSG00000100253 NA synonymous SNV ENSG00000100253:ENST00000451761:exon8:c.G642A:p.L214L,ENSG00000100253:ENST00000216075:exon9:c.G702A:p.L234L,ENSG00000100253:ENST00000395732:exon9:c.G702A:p.L234L Score=472;Name=lod=110 NA 22q13.33 Score=955;Name=V$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 958 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 958 11 126162862 126162862 C T exonic TIRAP NA synonymous SNV TIRAP:NM_001039661:exon5:c.C558T:p.A186A,TIRAP:NM_148910:exon5:c.C558T:p.A186A exonic ENSG00000150455 NA synonymous SNV ENSG00000150455:ENST00000479770:exon2:c.C558T:p.A186A,ENSG00000150455:ENST00000392679:exon4:c.C558T:p.A186A,ENSG00000150455:ENST00000392678:exon5:c.C558T:p.A186A,ENSG00000150455:ENST00000392680:exon5:c.C558T:p.A186A Score=343;Name=lod=33 NA 11q24.2 NA Name=CTCF NA NA rs7932766 0.15 0.15 0.145 0.133986 0.2227 0.0397 0.1398 0.1225 0.1513 0.24 0.04 0.15 0.15 0.1835 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.590266 1.590266 NA 0.240866 0.131077 NA 0.203 NA 7.0196006 958 6 32974934 32974934 G A exonic HLA-DOA NA synonymous SNV HLA-DOA:NM_002119:exon4:c.C672T:p.G224G exonic ENSG00000204252 NA synonymous SNV ENSG00000204252:ENST00000229829:exon4:c.C672T:p.G224G Score=366;Name=lod=41 NA 6p21.32 Score=825;Name=V$PPARA_01 NA NA NA rs378352 0.19 0.19 0.166 0.166534 0.2247 0.3492 0.1095 0.0151 0.1636 0.23 0.32 0.13 0.03 0.209 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.284483 1.284483 NA 0.21412 0.050613 NA 0.174 NA 7.0188466 958 14 76175547 76175547 A G intronic TTLL5 NA NA NA exonic ENSG00000119685 NA nonsynonymous SNV ENSG00000119685:ENST00000286650:exon10:c.A766G:p.T256A NA NA 14q24.3 NA Name=CTCF NA NA rs1981897 0.03 0.03 0.023 0.01877 0.0567 NA 0.0288 0.0023 0.0143 0.06 NA 0.04 NA 0.0379 0.06 0.44 T 0.0 B 0.0 B . . 1.000 N . . 3.32 T -0.909 T 0.001 T 0.034 1.924 12.39 1.24 0.116 -0.716 0.848 1.924381 1.924381 0.04 0.053742 0.008562 NA 0.014 NA 7.0183247 958 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 958 15 74328206 74328206 G C exonic PML NA nonsynonymous SNV PML:NM_033250:exon7:c.G2260C:p.A754P,PML:NM_033239:exon8:c.G2404C:p.A802P exonic ENSG00000140464 NA nonsynonymous SNV ENSG00000140464:ENST00000354026:exon7:c.G2260C:p.A754P,ENSG00000140464:ENST00000268059:exon8:c.G2404C:p.A802P NA NA 15q24.1 NA NA NA NA rs743582 0.12 0.12 0.118 0.156749 0.0964 0.2371 0.0591 0.1127 0.2648 0.09 0.21 0.07 0.1 0.1241 0.21 0.06 T 0.004 B 0.005 B . . 1.000 P 0 N . . -1.031 T 0.000 T 0.059 1.176 9.783 1.22 0.355 0.631 4.599 1.175788 NA 0.08 0.094834 0.100318 NA 0.087 NA 7.0179994 958 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 958 14 59105188 59105188 C T exonic DACT1 NA synonymous SNV DACT1:NM_001079520:exon1:c.C268T:p.L90L,DACT1:NM_016651:exon1:c.C268T:p.L90L exonic ENSG00000165617 NA synonymous SNV ENSG00000165617:ENST00000335867:exon1:c.C268T:p.L90L,ENSG00000165617:ENST00000395153:exon1:c.C268T:p.L90L Score=571;Name=lod=280 NA 14q23.1 Score=834;Name=V$OLF1_01 NA Name=138 NA rs2003021 0.55 0.55 0.545 0.560703 0.5378 0.4246 0.5576 0.7012 0.5368 0.53 0.38 0.57 0.74 0.567 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.439865 NA NA 0.544285 0.665743 NA 0.297 NA 7.0175816 958 9 131196704 131196704 G A exonic CERCAM NA synonymous SNV CERCAM:NM_016174:exon11:c.G1347A:p.K449K exonic ENSG00000167123 NA synonymous SNV ENSG00000167123:ENST00000372838:exon11:c.G1347A:p.K449K,ENSG00000167123:ENST00000372842:exon12:c.G1113A:p.K371K Score=484;Name=lod=124 NA 9q34.11 Score=888;Name=V$ELK1_02 NA NA NA rs7259 0.35 0.35 0.38 0.376198 0.2117 0.4048 0.2089 0.6604 0.2505 0.22 0.39 0.19 0.63 0.2554 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.702617 NA NA 0.182209 0.603041 NA 0.362 NA 7.0173576 958 11 2797237 2797237 G A exonic KCNQ1 NA synonymous SNV KCNQ1:NM_000218:exon13:c.G1638A:p.S546S exonic ENSG00000053918 NA synonymous SNV ENSG00000053918:ENST00000155840:exon13:c.G1638A:p.S546S,ENSG00000053918:ENST00000335475:exon13:c.G1257A:p.S419S Score=625;Name=lod=463 NA 11p15.5 NA NA NA NA rs1057128 0.2 0.2 0.172 0.180911 0.1978 0.2927 0.33 0.0106 0.1728 0.18 0.29 0.33 0.02 0.2584 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.935833 NA NA 0.193214 0.046448 ID=COSM1604458;OCCURENCE=1(liver) 0.08 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000035344.1|RCV000126438.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.0172526 958 17 1640793 1640793 C T exonic WDR81 NA synonymous SNV WDR81:NM_001163673:exon10:c.C2031T:p.S677S,WDR81:NM_001163809:exon10:c.C5640T:p.S1880S,WDR81:NM_001163811:exon10:c.C1959T:p.S653S,WDR81:NM_152348:exon11:c.C2487T:p.S829S exonic ENSG00000167716 NA synonymous SNV ENSG00000167716:ENST00000545662:exon8:c.C1533T:p.S511S,ENSG00000167716:ENST00000446363:exon9:c.C1557T:p.S519S,ENSG00000167716:ENST00000409644:exon10:c.C5640T:p.S1880S,ENSG00000167716:ENST00000419248:exon10:c.C1959T:p.S653S,ENSG00000167716:ENST00000437219:exon10:c.C2031T:p.S677S,ENSG00000167716:ENST00000309182:exon11:c.C2487T:p.S829S Score=545;Name=lod=219 NA 17p13.3 NA NA NA NA rs8077638 0.2 0.2 0.197 0.241613 0.1988 0.1865 0.2075 0.23 0.3824 0.19 0.19 0.2 0.22 0.2419 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.44879 1.44879 NA 0.209186 0.223887 ID=COSM436117,COSM1381116,COSM436118;OCCURENCE=1(breast),1(large_intestine) 0.203 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118862.2;CLNDSDB=.;CLNDSDBID=. 7.0167806 958 5 31409252 31409252 A G exonic DROSHA NA synonymous SNV DROSHA:NM_001100412:exon32:c.T3654C:p.N1218N,DROSHA:NM_013235:exon32:c.T3765C:p.N1255N exonic ENSG00000113360 NA synonymous SNV ENSG00000113360:ENST00000442743:exon29:c.T3654C:p.N1218N,ENSG00000113360:ENST00000344624:exon30:c.T3765C:p.N1255N,ENSG00000113360:ENST00000511367:exon32:c.T3765C:p.N1255N,ENSG00000113360:ENST00000513349:exon32:c.T3654C:p.N1218N Score=638;Name=lod=524 NA 5p13.3 NA Name=eGFP-JunD NA NA rs2241337 0.3 0.3 0.309 0.306909 0.2137 0.4772 0.2839 0.2519 0.318 0.21 0.48 0.27 0.27 0.2457 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.862994 NA NA 0.190785 0.242243 NA 0.261 NA 7.0164816 958 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 958 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_(SC-477),MafF_(M8194),MafK_(ab50322) 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 959 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 959 4 10447640 10447640 A G exonic ZNF518B NA nonsynonymous SNV ZNF518B:NM_053042:exon3:c.T313C:p.S105P exonic ENSG00000178163 NA nonsynonymous SNV ENSG00000178163:ENST00000326756:exon3:c.T313C:p.S105P NA NA 4p16.1 NA NA NA NA rs10016702 0.2 0.2 0.213 0.210463 0.0924 0.1696 0.1196 0.4274 0.1452 0.1 0.16 0.14 0.44 0.1254 0.44 0.37 T 0.0 B 0.0 B 0.751 N 1.000 P -0.55 N 4.77 T -1.026 T 0.000 T 0.029 -0.008 3.972 0.517 -0.161 0.016 3.572 -0.008261 NA 0.34 0.100814 0.383341 ID=COSM149647;OCCURENCE=1(stomach) 0.283 NA 7.0147194 959 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 959 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 959 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 959 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 959 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 959 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 959 16 72992221 72992221 G A exonic ZFHX3 NA synonymous SNV ZFHX3:NM_006885:exon2:c.C1824T:p.S608S exonic ENSG00000140836 NA synonymous SNV ENSG00000140836:ENST00000268489:exon2:c.C1824T:p.S608S Score=790;Name=lod=2171 NA 16q22.3 Score=838;Name=V$GR_Q6 NA NA NA rs61735550 0.11 0.11 0.1 0.0830671 0.2306 NA 0.098 0.0174 0.0951 0.24 NA 0.11 0.03 0.1803 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022358 NA NA 0.245233 0.054368 NA 0.029 NA 7.0105336 959 2 220420956 220420956 A G exonic OBSL1 NA synonymous SNV OBSL1:NM_001173431:exon14:c.T4395C:p.D1465D,OBSL1:NM_015311:exon14:c.T4395C:p.D1465D exonic ENSG00000124006 NA nonsynonymous SNV ENSG00000124006:ENST00000265318:exon13:c.T3995C:p.M1332T NA NA 2q35 NA NA NA NA rs10932816 0.97 0.97 0.965 0.963658 1 1 0.9885 0.8684 1 1 1 0.99 0.88 0.9901 1 0.41 T . . . . . . 0.000 P . . 0.55 T -1.048 T 0.000 T . -1.643 0.013 -5.72 -1.307 -3.770 10.285 -1.643007 NA 0 0.999644 0.908417 NA 0.971 NA 7.010256 959 17 1637458 1637458 G A exonic WDR81 NA synonymous SNV WDR81:NM_001163673:exon7:c.G1518A:p.P506P,WDR81:NM_001163809:exon7:c.G5127A:p.P1709P,WDR81:NM_001163811:exon7:c.G1446A:p.P482P,WDR81:NM_152348:exon8:c.G1974A:p.P658P exonic ENSG00000167716 NA synonymous SNV ENSG00000167716:ENST00000545662:exon5:c.G1020A:p.P340P,ENSG00000167716:ENST00000446363:exon6:c.G1044A:p.P348P,ENSG00000167716:ENST00000409644:exon7:c.G5127A:p.P1709P,ENSG00000167716:ENST00000419248:exon7:c.G1446A:p.P482P,ENSG00000167716:ENST00000437219:exon7:c.G1518A:p.P506P,ENSG00000167716:ENST00000309182:exon8:c.G1974A:p.P658P NA NA 17p13.3 NA Name=ZEB1_(SC-25388) NA NA rs8065251 0.2 0.2 0.184 0.246805 0.1978 0.1855 0.2061 0.2519 0.3824 0.19 0.18 0.2 0.25 0.249 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731449 NA NA 0.209632 0.240009 ID=COSM1479286,COSM436114,COSM436113;OCCURENCE=1(breast) 0.217 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118858.2;CLNDSDB=.;CLNDSDBID=. 7.0102346 959 22 50878196 50878196 G A exonic PPP6R2 NA nonsynonymous SNV PPP6R2:NM_001242899:exon19:c.G2117A:p.R706K,PPP6R2:NM_001242900:exon19:c.G2117A:p.R706K,PPP6R2:NM_014678:exon19:c.G2114A:p.R705K,PPP6R2:NM_001242898:exon20:c.G2195A:p.R732K exonic ENSG00000100239 NA nonsynonymous SNV ENSG00000100239:ENST00000359139:exon19:c.G2117A:p.R706K,ENSG00000100239:ENST00000395741:exon19:c.G2117A:p.R706K,ENSG00000100239:ENST00000395744:exon19:c.G2114A:p.R705K,ENSG00000100239:ENST00000216061:exon21:c.G2195A:p.R732K NA NA 22q13.33 NA NA NA NA rs13057311 0.21 0.21 0.205 0.19369 0.2962 0.1419 0.2565 0.1059 0.2157 0.29 0.14 0.27 0.13 0.2447 0.29 0.93 T 0.488 P 0.069 B 0.477 N 1.000 P 0.69 N 1.03 T -1.004 T 0.000 T 0.03 -1.294 0.039 1.46 0.071 . 7.137 -1.293713 NA 0.91 0.282558 0.128688 NA 0.341 NA 7.0098754 959 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$P53_01 NA NA NA rs10769086 0.89 0.89 0.903 0.894569 0.7604 0.9931 0.8833 0.969 0.8384 0.76 0.99 0.88 0.97 0.8101 0.99 1 T 0.002 B 0.009 B 0.001 N 1.000 P -0.15 N 8.74 T -0.903 T 0.000 T 0.021 -2.538 0.003 0.634 -0.330 -1.782 0.879 -2.537708 NA 0.89 0.753481 0.949597 NA 0.819 NA 7.0093524 959 5 180687212 180687212 C T exonic TRIM52 NA synonymous SNV TRIM52:NM_032765:exon1:c.G603A:p.L201L exonic ENSG00000183718 NA synonymous SNV ENSG00000183718:ENST00000327767:exon1:c.G603A:p.L201L Score=389;Name=lod=51 NA 5q35.3 NA NA Name=9 NA rs918388 0.18 0.18 0.188 0.197284 0.2256 0.0665 0.1859 0.3003 0.1718 0.21 0.03 0.18 0.29 0.2054 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233197 NA NA 0.226628 0.283023 NA 0.174 NA 7.0090386 959 3 105389153 105389153 A G exonic CBLB NA synonymous SNV CBLB:NM_170662:exon18:c.T2613C:p.P871P exonic ENSG00000114423 NA synonymous SNV ENSG00000114423:ENST00000407712:exon3:c.T258C:p.P86P,ENSG00000114423:ENST00000394030:exon6:c.T630C:p.P210P,ENSG00000114423:ENST00000394027:exon17:c.T2547C:p.P849P,ENSG00000114423:ENST00000264122:exon18:c.T2613C:p.P871P Score=567;Name=lod=268 NA 3q13.11 Score=877;Name=V$SPZ1_01 NA NA NA rs11713094 0.24 0.24 0.229 0.211062 0.2306 0.1915 0.2983 0.2231 0.1329 0.25 0.22 0.27 0.22 0.2191 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.227383 NA NA 0.208023 0.20926 NA 0.246 NA 7.0089436 959 10 102746503 102746503 C T exonic MRPL43 NA synonymous SNV MRPL43:NM_032112:exon3:c.G468A:p.V156V exonic ENSG00000055950 NA synonymous SNV ENSG00000055950:ENST00000318364:exon3:c.G468A:p.V156V,ENSG00000055950:ENST00000370236:exon3:c.G468A:p.V156V NA NA 10q24.31 NA Name=Pol2 Name=5 NA rs2863095 0.34 0.34 0.32 0.352636 0.1829 0.5268 0.2882 0.3941 0.3374 0.18 0.55 0.25 0.41 0.2678 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733226 NA 0.04 0.207791 0.352928 NA 0.312 NA 7.0081756 959 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 959 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 959 20 43723627 43723627 T C exonic KCNS1 NA nonsynonymous SNV KCNS1:NM_002251:exon5:c.A1465G:p.I489V exonic ENSG00000124134 NA nonsynonymous SNV ENSG00000124134:ENST00000537075:exon4:c.A1465G:p.I489V,ENSG00000124134:ENST00000306117:exon5:c.A1465G:p.I489V NA NA 20q13.12 NA NA NA NA rs734784 0.4 0.4 0.384 0.40655 0.4642 0.2143 0.3833 0.6203 0.273 0.45 0.18 0.36 0.59 0.4128 0.59 1 T 0.0 B 0.0 B 0.440 N 1.000 P -0.695 N -3.9 D -1.019 T 0.000 T 0.015 -0.543 1.535 0.293 -0.404 -0.710 6.125 -0.543409 NA 1 0.449535 0.565138 ID=COSM149178;OCCURENCE=1(stomach) 0.449 NA 7.0067984 959 15 90174789 90174789 C T exonic KIF7 NA synonymous SNV KIF7:NM_198525:exon15:c.G3048A:p.S1016S exonic ENSG00000166813 NA synonymous SNV ENSG00000166813:ENST00000394412:exon15:c.G3048A:p.S1016S Score=578;Name=lod=297 NA 15q26.1 NA Name=Pol2,Pol2-4H8 NA NA rs9672286 0.47 0.47 0.483 0.451078 0.5616 0.3204 0.4524 0.4448 0.4796 0.56 0.35 0.51 0.46 0.527 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.345936 1.345936 NA 0.571578 0.492259 NA 0.471 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082817.3;CLNDSDB=.;CLNDSDBID=. 7.0064886 959 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 959 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 959 10 27687225 27687225 A G exonic PTCHD3 NA stoploss PTCHD3:NM_001034842:exon4:c.T2302C:p.X768Q exonic ENSG00000182077 NA stoploss ENSG00000182077:ENST00000438700:exon4:c.T2302C:p.X768Q NA NA 10p12.1 NA NA NA NA rs2505323 0.53 0.53 0.502 0.55012 0.6829 0.37 0.5202 0.5257 0.6534 0.68 0.31 0.56 0.54 0.6303 0.68 . . . . . . . . 1.000 P . . . . . . . . . -0.877 0.487 3.46 0.465 0.032 10.222 -0.877239 NA NA 0.681522 0.534741 NA 0.558 NA 7.005278 960 9 6986464 6986464 G C exonic KDM4C NA nonsynonymous SNV KDM4C:NM_001146694:exon11:c.G1475C:p.S492T,KDM4C:NM_001146695:exon11:c.G1475C:p.S492T,KDM4C:NM_001146696:exon11:c.G1541C:p.S514T,KDM4C:NM_015061:exon11:c.G1475C:p.S492T exonic ENSG00000107077 NA nonsynonymous SNV ENSG00000107077:ENST00000428870:exon4:c.G536C:p.S179T,ENSG00000107077:ENST00000442236:exon10:c.G932C:p.S311T,ENSG00000107077:ENST00000536108:exon10:c.G932C:p.S311T,ENSG00000107077:ENST00000381306:exon11:c.G1475C:p.S492T,ENSG00000107077:ENST00000381309:exon11:c.G1475C:p.S492T,ENSG00000107077:ENST00000535193:exon11:c.G1541C:p.S514T,ENSG00000107077:ENST00000543771:exon11:c.G1475C:p.S492T NA NA 9p24.1 NA NA NA NA rs35826653 0.05 0.05 0.042 0.0309505 0.1064 0.001 0.0403 0.0038 0.0143 0.11 0.0017 0.04 0.01 0.0913 0.13 0.65 T 0.152 B 0.037 B 0.003 N 1.000 P 1.1 L 0.88 T -1.108 T 0.001 T 0.103 0.445 6.416 -0.084 0.327 -0.339 2.701 0.444839 NA 0.22 0.13093 0.02315 NA 0.08 NA 7.0047034 960 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=FOSL2,Pol2,p300,Pol2-4H8,c-Jun,ELF1_(SC-631),HEY1,TCF4,STAT3,eGFP-JunD,CEBPB,c-Fos,PU.1,eGFP-FOS,Pol2(b),TBP,JunD 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 960 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 960 3 8787220 8787220 T C exonic CAV3 NA synonymous SNV CAV3:NM_001234:exon2:c.T123C:p.F41F,CAV3:NM_033337:exon2:c.T123C:p.F41F exonic ENSG00000182533 NA synonymous SNV ENSG00000182533:ENST00000343849:exon2:c.T123C:p.F41F,ENSG00000182533:ENST00000397368:exon2:c.T123C:p.F41F Score=483;Name=lod=123 NA 3p25.3 NA NA NA NA rs13087941 0.16 0.16 0.152 0.152955 0.2326 0.0139 0.1311 0.2837 0.0532 0.24 0.01 0.14 0.25 0.1886 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.821457 NA NA 0.241047 0.283931 ID=COSM1131343;OCCURENCE=1(prostate) 0.167 CLINSIG=non-pathogenic|other;CLNDBN=not_provided|not_specified;CLNREVSTAT=single|mult;CLNACC=RCV000024401.2|RCV000039797.4;CLNDSDB=.|.;CLNDSDBID=.|. 7.0044196 960 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 960 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 960 4 38016395 38016395 T G exonic TBC1D1 NA nonsynonymous SNV TBC1D1:NM_001253912:exon3:c.T683G:p.V228G,TBC1D1:NM_015173:exon3:c.T683G:p.V228G exonic ENSG00000065882 NA nonsynonymous SNV ENSG00000065882:ENST00000446803:exon2:c.T296G:p.V99G,ENSG00000065882:ENST00000261439:exon3:c.T683G:p.V228G,ENSG00000065882:ENST00000508802:exon3:c.T683G:p.V228G NA NA 4p14 NA NA NA NA rs10501 0.56 0.56 0.524 0.578474 0.4284 0.7093 0.487 0.6422 0.5767 0.42 0.74 0.48 0.62 0.4825 0.74 0.4 T 0.0 B 0.0 B 0.261 N 1.000 P 0 N 4.04 T -1.055 T 0.000 T 0.089 -1.11 0.134 0.314 -0.122 1.416 4.072 -1.110455 NA 0.42 0.418188 0.589402 ID=COSM447822;OCCURENCE=1(breast) 0.478 NA 7.0042454 960 3 112648127 112648127 T G exonic CD200R1 NA nonsynonymous SNV CD200R1:NM_138940:exon3:c.A361C:p.T121P,CD200R1:NM_170780:exon3:c.A361C:p.T121P,CD200R1:NM_138806:exon4:c.A430C:p.T144P,CD200R1:NM_138939:exon4:c.A430C:p.T144P exonic ENSG00000163606 NA nonsynonymous SNV ENSG00000163606:ENST00000295863:exon2:c.A295C:p.T99P,ENSG00000163606:ENST00000471858:exon3:c.A361C:p.T121P,ENSG00000163606:ENST00000490004:exon3:c.A361C:p.T121P,ENSG00000163606:ENST00000308611:exon4:c.A430C:p.T144P,ENSG00000163606:ENST00000440122:exon4:c.A430C:p.T144P NA NA 3q13.2 NA NA NA NA rs4596117 0.63 0.63 0.084 0.651358 0.5328 0.7024 0.6066 0.7216 0.6575 0.54 0.7 0.61 0.7 0.5699 0.7 1 T . . . . 0.165 N 1.000 P . . 1.6 T -0.937 T 0.000 T 0.033 -0.799 0.68 4.59 0.670 0.769 3.940 -0.798743 NA 1 0.226512 0.387653 NA NA NA 7.0041214 960 1 201187764 201187764 T C exonic IGFN1 NA synonymous SNV IGFN1:NM_001164586:exon18:c.T9876C:p.A3292A exonic ENSG00000163395 NA synonymous SNV ENSG00000163395:ENST00000295591:exon18:c.T1356C:p.A452A,ENSG00000163395:ENST00000335211:exon18:c.T9876C:p.A3292A NA NA 1q32.1 NA NA NA NA rs10920144 0.93 0.93 0.91 0.929712 0.8946 0.998 0.8501 0.9592 0.9121 0.9 1 0.85 0.96 0.8916 1 . . . . . . . . 0.020 P . . . . -1.046 T 0.000 T . 0.668 7.575 -8.1 -1.316 -2.244 10.558 0.667577 NA NA 0.876395 0.949841 NA 0.964 NA 7.0040716 960 1 180905448 180905448 G T exonic KIAA1614 NA nonsynonymous SNV KIAA1614:NM_020950:exon5:c.G2403T:p.L801F exonic ENSG00000135835 NA nonsynonymous SNV ENSG00000135835:ENST00000367587:exon2:c.G1266T:p.L422F,ENSG00000135835:ENST00000367588:exon5:c.G2403T:p.L801F NA NA 1q25.3 NA NA NA NA rs3795504 0.39 0.39 0.352 0.403554 0.4533 0.2748 0.428 0.3548 0.5337 0.45 0.26 0.48 0.37 0.4349 0.48 0.57 T 0.0 B 0.001 B 0.897 N 1.000 P 0.145 N 0.97 T -0.903 T 0.000 T 0.017 -0.296 2.589 2.38 0.277 0.066 4.419 -0.295649 NA 0.45 0.441212 0.367802 NA 0.442 NA 7.0039214 960 16 8738427 8738427 T C exonic METTL22 NA synonymous SNV METTL22:NM_024109:exon10:c.T1024C:p.L342L exonic ENSG00000067365 NA nonsynonymous SNV ENSG00000067365:ENST00000572956:exon6:c.T440C:p.I147T Score=405;Name=lod=59 NA 16p13.2 Score=708;Name=V$BRACH_01 Name=c-Myc,Max Name=8 NA rs1641066 0.99 0.99 0.996 0.985823 1 1 0.9928 0.9501 1 1 1 0.99 0.97 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 1.637119 1.637119 NA 1 0.959562 NA 0.993 NA 7.0038 960 22 46709881 46709881 G A exonic GTSE1 NA nonsynonymous SNV GTSE1:NM_016426:exon6:c.G1022A:p.S341N exonic ENSG00000075218 NA nonsynonymous SNV ENSG00000075218:ENST00000454366:exon6:c.G1022A:p.S341N NA NA 22q13.31 NA NA NA NA rs6008622 0.13 0.13 0.133 0.128594 0.1223 0.001 0.0836 0.3192 0.0409 0.12 NA 0.1 0.31 0.1001 0.31 0.2 T 0.025 B 0.032 B 0.460 N 1.000 P 0.895 L 2.53 T -0.920 T 0.000 T 0.007 0.631 7.393 0.429 0.186 0.164 5.940 0.631216 NA 0.22 0.107209 0.298911 NA 0.152 NA 7.0037244 960 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 960 15 42166500 42166500 C T exonic SPTBN5 NA nonsynonymous SNV SPTBN5:NM_016642:exon24:c.G4679A:p.R1560H exonic ENSG00000137877 NA nonsynonymous SNV ENSG00000137877:ENST00000320955:exon24:c.G4679A:p.R1560H NA NA 15q15.1 NA NA NA NA rs12593397 0.45 0.45 0.41 0.395168 0.4483 0.7034 0.5101 0.0439 0.4162 0.47 0.71 0.53 0.05 0.4465 0.71 0.27 T 0.0 B 0.001 B 0.462 N 1.000 P 0.28 N 0.69 T -0.963 T 0.000 T 0.052 0.544 6.946 -5.21 -0.897 0.404 4.544 0.544443 NA 0.34 0.435913 0.110947 NA 0.254 NA 7.0026204 960 1 158450382 158450382 C T exonic OR10R2 NA nonsynonymous SNV OR10R2:NM_001004472:exon1:c.C715T:p.L239F exonic ENSG00000198965 NA nonsynonymous SNV ENSG00000198965:ENST00000368152:exon1:c.C715T:p.L239F NA NA 1q23.1 NA NA NA NA rs1418843 0.47 0.47 0.439 0.434704 0.4573 0.5685 0.3833 0.3828 0.3804 0.47 0.61 0.39 0.39 0.4406 0.61 0.41 T 0.336 B 0.195 B . . 1.000 P 0.4 N 8.66 T -1.140 T 0.000 T 0.03 1.389 10.58 -1.39 -0.551 -6.666 1.324 1.389376 1.389376 0.91 0.43314 0.390604 NA 0.478 NA 7.0022934 960 4 1244416 1244416 A G ncRNA_exonic CTBP1-AS1 NA NA NA ncRNA_exonic ENSG00000196810 NA NA NA NA NA 4p16.3 NA NA NA NA rs1732115 0.83 0.83 0.791 0.819089 0.8936 0.9722 0.902 0.5053 0.9499 0.89 0.97 0.9 0.49 0.8813 0.97 0 D 0.0 B 0.0 B . . 1.000 P . . . . -1.012 T 0.000 T . -0.554 1.492 -2.45 -2.042 -1.806 3.685 -0.554275 NA 1 0.889625 0.551294 NA 0.79 NA 7.0021416 960 5 1225626 1225626 T A exonic SLC6A18 NA nonsynonymous SNV SLC6A18:NM_182632:exon1:c.T34A:p.C12S exonic ENSG00000164363 NA nonsynonymous SNV ENSG00000164363:ENST00000296821:exon1:c.T34A:p.C12S,ENSG00000164363:ENST00000324642:exon1:c.T34A:p.C12S NA NA 5p15.33 NA NA NA NA rs7728667 0.74 0.74 0.733 0.740415 0.7873 0.5575 0.755 0.8283 0.7515 0.79 0.59 0.77 0.84 0.7651 0.84 0.32 T 0.0 B 0.0 B 0.839 N 1.000 P 0 N -0.56 T -1.001 T 0.000 T 0.028 -0.735 0.862 -5.52 -1.120 0.816 5.773 -0.735106 NA 0.98 0.78 0.821153 NA 0.717 NA 7.0009334 960 5 68531253 68531253 C T exonic CDK7 NA synonymous SNV CDK7:NM_001799:exon2:c.C99T:p.N33N exonic ENSG00000134058 NA synonymous SNV ENSG00000134058:ENST00000256443:exon2:c.C99T:p.N33N,ENSG00000134058:ENST00000504147:exon2:c.C99T:p.N33N,ENSG00000134058:ENST00000506789:exon2:c.C99T:p.N33N,ENSG00000134058:ENST00000508726:exon2:c.C99T:p.N33N,ENSG00000134058:ENST00000510106:exon2:c.C99T:p.N33N,ENSG00000134058:ENST00000514676:exon2:c.C99T:p.N33N,ENSG00000134058:ENST00000515180:exon2:c.C99T:p.N33N,ENSG00000134058:ENST00000515391:exon2:c.C99T:p.N33N Score=535;Name=lod=200 NA 5q13.2 Score=912;Name=V$GATA_C NA Name=5 NA rs2972388 0.6 0.6 0.592 0.629792 0.5427 0.499 0.6427 0.7693 0.6564 0.53 0.54 0.56 0.78 0.5842 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 1.076436 NA NA 0.539419 0.707217 NA 0.688 NA 7.0003476 960 17 75495397 75495397 T C UTR3 SEPT9 NM_001113491:c.*657T>C,NM_001113492:c.*657T>C,NM_006640:c.*657T>C,NM_001113493:c.*657T>C,NM_001113494:c.*657T>C,NM_001113496:c.*657T>C,NM_001113495:c.*657T>C NA NA UTR3 ENSG00000184640 ENST00000427177:c.*657T>C,ENST00000449803:c.*657T>C,ENST00000431235:c.*657T>C,ENST00000329047:c.*657T>C,ENST00000588690:c.*657T>C,ENST00000423034:c.*657T>C,ENST00000427674:c.*657T>C,ENST00000541152:c.*657T>C,ENST00000427180:c.*657T>C NA NA NA NA 17q25.3 NA Name=GATA-2 NA NA rs9038 0.6 0.6 0.551 0.629393 0.4085 0.9355 0.6167 0.5045 0.7188 0.41 0.91 0.56 0.54 0.5501 0.91 0 D . . . . . . 1.000 P . . . . -1.028 T 0.000 T . 0.551 6.98 -2.78 -0.603 -0.038 5.604 0.550822 NA NA 0.374435 0.518857 NA 0.529 NA 7.0002984 960 18 28611139 28611139 A C splicing DSC3 NM_024423:exon4:c.155-1T>G,NM_001941:exon4:c.155-1T>G NA NA splicing ENSG00000134762 ENST00000360428:exon4:c.155-1T>G,ENST00000434452:exon4:c.155-1T>G NA NA Score=309;Name=lod=24 NA 18q12.1 NA Name=TAL1_(SC-12984) NA NA rs276936 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . . . 0.000 P . . . . . . . . . 0.698 7.726 4.33 0.777 2.381 13.497 0.698218 NA NA 0.999884 1 NA 1 NA 7.000116 960 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=c-Myc,Rad21,ETS1,HMGN3,GABP,CTCF,E2F6_(H-50),E2F6,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 960 1 153750411 153750411 C T intronic SLC27A3 NA NA NA intronic ENSG00000143554 NA NA NA NA NA 1q21.3 NA Name=Egr-1 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 -0.597019 NA NA NA NA NA NA NA 7 960 17 49244328 49244328 C T intronic NME1-NME2,NME2 NA NA NA intronic ENSG00000011052,ENSG00000243678 NA NA NA NA NA 17q21.33 NA Name=ZNF263,E2F6,CTCF,Ini1,HA-E2F1,Pol2,Pol2-4H8 Name=148 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008472 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.772456 1.772456 NA NA NA NA NA NA 6.9999915 960 2 47249128 47249128 A G intronic TTC7A NA NA NA intronic ENSG00000068724 NA NA NA NA NA 2p21 Score=801;Name=V$AHRARNT_02 NA Name=16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009252 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.545808 2.545808 NA NA NA NA NA NA 6.9999075 960 7 100608778 100608778 T C intergenic ACHE,MUC12 dist=115237;dist=4126 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000422757:exon6:c.T627C:p.P209P,ENSG00000169894:ENST00000319509:exon7:c.T2157C:p.P719P Score=358;Name=lod=38 NA 7q22.1 NA Name=Rad21,GABP,ETS1,USF-1,CTCF Name=5 NA rs73163792 NA NA 0.017 0.000798722 NA NA 0.0014 0.0023 NA NA NA NA NA 0.5001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123111 NA NA NA NA NA NA NA 6.9999 960 19 15471655 15471655 T A intronic AKAP8 NA NA NA intronic ENSG00000105127 NA NA NA Score=481;Name=lod=120 NA 19p13.12 NA Name=ZNF263,Pol2(phosphoS2) Name=3 NA rs376637617 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008712 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.115093 2.115093 NA 0.000116 0 NA NA NA 6.9998753 960 20 3147468 3147468 G A exonic LZTS3 NA synonymous SNV LZTS3:NM_014731:exon1:c.C342T:p.N114N exonic ENSG00000088899 NA synonymous SNV ENSG00000088899:ENST00000329152:exon1:c.C342T:p.N114N,ENSG00000088899:ENST00000337576:exon1:c.C342T:p.N114N,ENSG00000088899:ENST00000360342:exon3:c.C342T:p.N114N Score=439;Name=lod=81 NA 20p13 Score=926;Name=V$CEBP_01 NA NA NA rs17853865 0.13 0.13 0.137 0.139776 0.2256 0.0208 0.2003 0.062 0.2362 0.24 0.02 0.17 0.06 0.2053 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.088615 NA NA 0.236047 0.095778 ID=COSM443644;OCCURENCE=1(breast) 0.261 NA 6.9997196 960 3 129152089 129152089 G A exonic MBD4 NA synonymous SNV MBD4:NM_001276273:exon5:c.C459T:p.G153G,MBD4:NM_001276270:exon6:c.C1395T:p.G465G,MBD4:NM_001276271:exon6:c.C1413T:p.G471G,MBD4:NM_001276272:exon6:c.C1413T:p.G471G,MBD4:NM_003925:exon6:c.C1413T:p.G471G exonic ENSG00000129071 NA stopgain ENSG00000129071:ENST00000509828:exon2:c.C106T:p.Q36X NA NA 3q21.3 Score=811;Name=V$YY1_02 NA NA NA rs140696 0.12 0.12 0.111 0.167332 0.1103 0.0913 0.0937 0.2337 0.2669 0.09 0.08 0.11 0.2 0.1224 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.022376 3.022376 NA 0.10093 0.215388 NA 0.326 NA 6.9997033 960 17 4638737 4638737 A G exonic CXCL16 NA nonsynonymous SNV CXCL16:NM_001100812:exon4:c.T425C:p.I142T,CXCL16:NM_022059:exon4:c.T425C:p.I142T exonic ENSG00000161921 NA nonsynonymous SNV ENSG00000161921:ENST00000573123:exon3:c.T206C:p.I69T,ENSG00000161921:ENST00000293778:exon4:c.T425C:p.I142T,ENSG00000161921:ENST00000574412:exon4:c.T425C:p.I142T NA NA 17p13.2 NA NA NA NA rs1050998 0.45 0.45 0.441 0.463259 0.4394 0.5883 0.4813 0.2958 0.5726 0.44 0.6 0.45 0.3 0.4574 0.6 0.43 T 0.002 B 0.003 B 0.182 N 1.000 P -0.145 N 1.22 T -0.994 T 0.000 T 0.205 0.655 7.511 -10.8 -2.302 -0.475 11.758 0.654588 NA 0.58 0.43686 0.312528 ID=COSM148160;OCCURENCE=1(stomach) 0.42 NA 6.9996734 960 2 219188182 219188182 G A intronic PNKD NA NA NA intronic ENSG00000127838 NA NA NA NA NA 2q35 NA Name=Pol2 Name=84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 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 NA 1.265157 1.265157 NA NA NA NA NA NA 6.9993 960 19 6737509 6737509 G A exonic GPR108 NA synonymous SNV GPR108:NM_001080452:exon1:c.C79T:p.L27L exonic ENSG00000125734 NA synonymous SNV ENSG00000125734:ENST00000264080:exon1:c.C79T:p.L27L NA NA 19p13.3 NA Name=TCF4,ZNF263,Pol2(b),CCNT2,p300,Pol2,HEY1,TAF1,HMGN3,Pol2-4H8 NA NA rs339401 0.92 0.92 0.907 0.905551 0.8956 0.9861 0.9265 0.9123 0.8088 0.88 0.99 0.92 0.9 0.8855 0.99 . . . . . . . . 1.000 P . . . . -1.076 T 0.000 T . -0.271 2.702 -6.16 -1.986 -0.806 12.617 -0.270715 NA NA 0.886277 0.921111 NA 0.841 NA 6.9992896 960 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 960 9 79322674 79322674 A G exonic PRUNE2 NA nonsynonymous SNV PRUNE2:NM_015225:exon8:c.T4516C:p.C1506R exonic ENSG00000106772 NA nonsynonymous SNV ENSG00000106772:ENST00000376718:exon8:c.T4516C:p.C1506R,ENSG00000106772:ENST00000428286:exon8:c.T3439C:p.C1147R NA NA 9q21.2 NA Name=POU2F2,MEF2A,BATF,Oct-2,MEF2C_(SC-13268),Egr-1 NA NA rs680775 0.81 0.81 0.811 0.786342 0.7734 0.9117 0.8213 0.6974 0.7658 0.76 0.95 0.81 0.73 0.7969 0.95 0.12 T 0.0 B 0.0 B 0.434 N 1.000 P 0 N 0.99 T -1.039 T 0.000 T 0.409 0.938 8.822 0.642 -0.304 1.031 1.853 0.937813 NA 0.36 0.764377 0.713648 NA 0.783 NA 6.9986564 960 6 159655102 159655102 A G exonic FNDC1 NA synonymous SNV FNDC1:NM_032532:exon11:c.A3558G:p.G1186G exonic ENSG00000164694 NA synonymous SNV ENSG00000164694:ENST00000340366:exon10:c.A3369G:p.G1123G,ENSG00000164694:ENST00000297267:exon11:c.A3558G:p.G1186G NA NA 6q25.3 NA NA NA NA rs436743 0.8 0.8 0.774 0.786142 0.9085 0.626 0.8646 0.7133 0.8681 0.92 0.64 0.89 0.75 0.8638 0.92 . . . . . . . . 1.000 P . . . . -1.074 T 0.025 T . 0.669 7.583 -9.7 -2.736 -1.045 9.266 0.669054 NA NA 0.895777 0.762149 NA 0.594 NA 6.9985896 960 5 178294060 178294060 G A exonic ZNF354B NA nonsynonymous SNV ZNF354B:NM_058230:exon4:c.G244A:p.V82I exonic ENSG00000178338 NA nonsynonymous SNV ENSG00000178338:ENST00000520377:exon3:c.G244A:p.V82I,ENSG00000178338:ENST00000322434:exon4:c.G244A:p.V82I NA NA 5q35.3 NA NA NA NA rs11955074 0.1 0.1 0.119 0.118211 0.1213 NA 0.1066 0.2655 0.046 0.09 NA 0.1 0.23 0.1076 0.23 0.1 T 0.009 B 0.006 B . . 1.000 P 0.55 N 6.24 T -0.922 T 0.000 T 0.015 -0.041 3.804 0.785 0.027 0.168 4.366 -0.041079 NA 0.42 0.10593 0.209941 NA NA NA 6.9985034 960 9 79320640 79320640 C T exonic PRUNE2 NA nonsynonymous SNV PRUNE2:NM_015225:exon8:c.G6550A:p.A2184T exonic ENSG00000106772 NA nonsynonymous SNV ENSG00000106772:ENST00000376718:exon8:c.G6550A:p.A2184T,ENSG00000106772:ENST00000428286:exon8:c.G5473A:p.A1825T NA NA 9q21.2 NA NA NA NA rs512110 0.82 0.82 0.832 0.796925 0.7734 0.9117 0.8228 0.739 0.7628 0.76 0.95 0.81 0.77 0.7991 0.95 0.8 T 0.0 B 0.001 B 0.244 N 1.000 P 1.01 L 0.92 T -1.019 T 0.000 T 0.168 -0.122 3.401 -2.67 -0.785 -2.081 0.109 -0.122216 NA 0.8 0.762702 0.749681 NA 0.783 NA 6.9981314 960 19 55710074 55710074 G A exonic PTPRH NA nonsynonymous SNV PTPRH:NM_001161440:exon6:c.C1093T:p.L365F,PTPRH:NM_002842:exon8:c.C1627T:p.L543F exonic ENSG00000080031 NA nonsynonymous SNV ENSG00000080031:ENST00000263434:exon6:c.C1093T:p.L365F,ENSG00000080031:ENST00000376350:exon8:c.C1627T:p.L543F NA NA 19q13.42 NA NA NA NA rs16986309 0.1 0.1 0.078 0.0926518 0.1213 0.0099 0.1095 0.1278 0.089 0.13 NA 0.14 0.15 0.0988 0.15 0.61 T 0.006 B 0.018 B . . 1.000 P -0.11 N 0.65 T -1.028 T 0.000 T 0.343 -1.164 0.093 -0.302 -0.107 0.009 1.631 -1.164239 NA 0.57 0.115814 0.135043 NA 0.152 NA 6.9974194 960 21 34399401 34399401 A G exonic OLIG2 NA synonymous SNV OLIG2:NM_005806:exon2:c.A231G:p.S77S exonic ENSG00000205927 NA synonymous SNV ENSG00000205927:ENST00000333337:exon1:c.A231G:p.S77S,ENSG00000205927:ENST00000382357:exon2:c.A231G:p.S77S Score=574;Name=lod=286 NA 21q22.11 Score=916;Name=V$TCF11_01 NA Name=28 NA rs762178 0.45 0.45 0.432 0.439696 0.5726 0.1845 0.5245 0.4939 0.4325 0.58 0.18 0.54 0.47 0.5212 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.243138 1.243138 NA 0.575465 0.517719 NA 0.355 NA 6.9974016 960 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 960 11 104916060 104916060 A G upstream CARD16 NA NA NA UTR5 ENSG00000204397 ENST00000375704:c.-36T>C NA NA NA NA 11q22.3 Score=809;Name=V$IRF1_01 Name=Pol2-4H8,PRDM1_(Val90),Pol2,POU2F2,CEBPB,TBP,Oct-2 Name=103 NA rs189692884 0.0005 0.0005 NA 0.000599042 0.002 NA 0.0014 NA NA NA 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 0.249586 NA NA 0.000698 0.000454 NA NA NA 6.996402 960 3 129297223 129297223 C G exonic PLXND1 NA synonymous SNV PLXND1:NM_015103:exon9:c.G2295C:p.T765T exonic ENSG00000004399 NA synonymous SNV ENSG00000004399:ENST00000324093:exon9:c.G2295C:p.T765T,ENSG00000004399:ENST00000393239:exon9:c.G2295C:p.T765T Score=361;Name=lod=39 NA 3q22.1 NA Name=Pol2 NA NA rs1110168 0.24 0.24 0.227 0.230831 0.2207 0.4067 0.1988 0.1611 0.1769 0.21 0.36 0.2 0.18 0.2579 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.137209 NA NA 0.191977 0.162733 NA 0.275 NA 6.9960896 960 17 4638563 4638563 G A exonic CXCL16 NA nonsynonymous SNV CXCL16:NM_001100812:exon4:c.C599T:p.A200V,CXCL16:NM_022059:exon4:c.C599T:p.A200V exonic ENSG00000161921 NA nonsynonymous SNV ENSG00000161921:ENST00000293778:exon4:c.C599T:p.A200V,ENSG00000161921:ENST00000574412:exon4:c.C599T:p.A200V NA NA 17p13.2 NA NA NA NA rs2277680 0.45 0.45 0.473 0.461462 0.4394 0.5804 0.4813 0.2958 0.5716 0.44 0.59 0.45 0.3 0.4612 0.59 0.46 T 0.0 B 0.004 B 0.642 N 1.000 P -0.205 N 1.22 T -0.928 T 0.000 T 0.023 0.624 7.358 -2.64 -0.477 -0.819 13.311 0.624211 NA 0.59 0.436744 0.312528 NA 0.42 NA 6.9959894 960 16 29819886 29819886 C T intronic MAZ NA NA NA intronic ENSG00000103495 NA NA NA Score=703;Name=lod=957 NA 16p11.2 NA Name=Sin3Ak-20,c-Myc,Max,MafK_(SC-477),E2F6_(H-50),Pol2,USF-1 Name=8 NA rs377467615 NA NA NA 0.000399361 0.001 NA NA NA 0.001 NA NA NA NA 0.0021 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 2.363746 2.363746 NA 0.000972 0 NA NA NA 6.995928 960 6 159655402 159655402 A G exonic FNDC1 NA synonymous SNV FNDC1:NM_032532:exon11:c.A3858G:p.P1286P exonic ENSG00000164694 NA synonymous SNV ENSG00000164694:ENST00000340366:exon10:c.A3669G:p.P1223P,ENSG00000164694:ENST00000297267:exon11:c.A3858G:p.P1286P NA NA 6q25.3 Score=705;Name=V$HOX13_01 NA NA NA rs2932988 0.8 0.8 0.749 0.785942 0.9085 0.626 0.8631 0.7133 0.8681 0.92 0.64 0.89 0.75 0.8673 0.92 . . . . . . . . 1.000 P . . . . -1.041 T 0.008 T . 0.618 7.324 -11.1 -3.089 -1.194 1.188 0.617623 NA NA 0.895859 0.759487 NA 0.79 NA 6.9950076 961 15 51294832 51294832 G A exonic AP4E1 NA synonymous SNV AP4E1:NM_001252127:exon21:c.G3162A:p.Q1054Q,AP4E1:NM_007347:exon21:c.G3387A:p.Q1129Q exonic ENSG00000081014 NA synonymous SNV ENSG00000081014:ENST00000261842:exon21:c.G3387A:p.Q1129Q,ENSG00000081014:ENST00000560508:exon21:c.G3162A:p.Q1054Q Score=477;Name=lod=116 NA 15q21.2 NA NA NA NA rs3825798 0.24 0.24 0.233 0.204073 0.2197 0.4653 0.1974 0.0673 0.1084 0.22 0.45 0.17 0.09 0.2206 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538779 NA NA 0.231656 0.107468 NA 0.116 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116364.2;CLNDSDB=.;CLNDSDBID=. 6.9947106 961 X 148582549 148582549 G A exonic IDS NA synonymous SNV IDS:NM_000202:exon4:c.C438T:p.T146T,IDS:NM_001166550:exon4:c.C168T:p.T56T,IDS:NM_006123:exon4:c.C438T:p.T146T exonic ENSG00000010404 NA synonymous SNV ENSG00000010404:ENST00000340855:exon4:c.C438T:p.T146T,ENSG00000010404:ENST00000370441:exon4:c.C438T:p.T146T,ENSG00000010404:ENST00000370443:exon4:c.C438T:p.T146T,ENSG00000010404:ENST00000466323:exon4:c.C438T:p.T146T Score=536;Name=lod=201 NA Xq28 NA NA NA NA rs1141608 0.24 0.24 0.23847 NA NA NA NA NA NA 0.41 0.0023 0.19 0.27 0.2783 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632318 NA NA 0.394768 0.252412 NA 0.065 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078365.1;CLNDSDB=.;CLNDSDBID=. 6.9935986 961 8 142146708 142146708 T C UTR5 DENND3 NM_014957:c.-38T>C NA NA exonic ENSG00000105339 NA nonsynonymous SNV ENSG00000105339:ENST00000518198:exon2:c.T154C:p.W52R,ENSG00000105339:ENST00000518347:exon2:c.T203C:p.M68T,ENSG00000105339:ENST00000519291:exon2:c.T2C:p.M1T,ENSG00000105339:ENST00000519811:exon2:c.T203C:p.M68T,ENSG00000105339:ENST00000520986:exon2:c.T203C:p.M68T,ENSG00000105339:ENST00000523058:exon2:c.T203C:p.M68T NA NA 8q24.3 NA NA NA NA rs307772 0.86 0.86 0.859 0.893171 0.7584 0.9881 0.8545 0.9259 0.9172 0.75 0.99 0.85 0.91 0.8335 0.99 1 T 0.001 B 0.001 B . . 1.000 P . . 1.03 T -0.972 T 0.000 T 0.151 1.318 10.32 -8.74 -1.779 -2.731 4.649 1.318356 1.318356 NA 0.748603 0.899544 NA 0.761 NA 6.9928304 961 3 151112568 151112568 G A exonic MED12L NA synonymous SNV MED12L:NM_053002:exon37:c.G5628A:p.S1876S exonic ENSG00000144893 NA synonymous SNV ENSG00000144893:ENST00000273432:exon35:c.G5208A:p.S1736S,ENSG00000144893:ENST00000474524:exon37:c.G5628A:p.S1876S NA NA 3q25.1 Score=762;Name=V$HEN1_02 NA Name=7 NA rs3732768 0.28 0.28 0.29 0.298922 0.2028 0.2778 0.2233 0.3707 0.3763 0.21 0.3 0.22 0.42 0.2577 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.529455 NA NA 0.213372 0.351112 NA 0.355 NA 6.9927946 961 6 154414446 154414446 A T exonic OPRM1 NA nonsynonymous SNV OPRM1:NM_001008505:exon4:c.A1206T:p.Q402H exonic ENSG00000112038 NA nonsynonymous SNV ENSG00000112038:ENST00000229768:exon4:c.A1206T:p.Q402H NA NA 6q25.2 NA NA NA NA rs540825 0.87 0.87 0.883 0.882188 0.7714 0.9484 0.8285 0.9523 0.8712 0.77 0.95 0.83 0.97 0.8078 0.97 0.01 D 0.0 B 0.0 B . . 1.000 P . . -0.55 T -0.984 T 0.096 T 0.039 -0.548 1.518 -4.63 -0.587 -0.683 8.286 -0.547683 NA 0.08 0.76226 0.938105 NA 0.848 NA 6.9918734 961 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 961 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 961 10 48371277 48371277 C T exonic ZNF488 NA nonsynonymous SNV ZNF488:NM_153034:exon2:c.C745T:p.P249S exonic ENSG00000165388 NA nonsynonymous SNV ENSG00000165388:ENST00000395702:exon2:c.C745T:p.P249S,ENSG00000165388:ENST00000586537:exon3:c.C424T:p.P142S NA NA 10q11.22 NA NA NA NA rs3814160 0.08 0.08 0.068 0.0820687 0.1044 0.0704 0.0648 0.0666 0.1043 0.11 0.07 0.07 0.05 0.1088 0.13 0.59 T 0.001 B 0.002 B 0.160 N 1.000 P 1.61 L 2.02 T -1.023 T 0.001 T 0.03 0.48 6.604 0.174 0.059 0.858 6.180 0.479786 NA 0.73 0.129302 0.082161 NA 0.08 NA 6.9908314 961 7 149522162 149522162 G T exonic SSPO NA nonsynonymous SNV SSPO:NM_198455:exon96:c.G13949T:p.C4650F ncRNA_exonic ENSG00000197558 NA NA NA Score=321;Name=lod=27 NA 7q36.1 Score=780;Name=V$XBP1_01 NA NA NA rs62617122 0.16 0.16 0.137 0.168331 0.1551 0.1746 0.1931 0.1233 0.2188 0.15 0.19 0.2 0.1 0.1855 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.329695 1.329695 0.03 0.169024 0.123486 NA 0.116 NA 6.990376 961 17 29214387 29214387 T C exonic ATAD5 NA nonsynonymous SNV ATAD5:NM_024857:exon19:c.T4255C:p.Y1419H exonic ENSG00000176208 NA nonsynonymous SNV ENSG00000176208:ENST00000321990:exon19:c.T4255C:p.Y1419H NA NA 17q11.2 NA NA NA NA rs11657270 0.13 0.13 0.109 0.144369 0.1074 0.1359 0.1859 0.0719 0.2597 0.09 0.16 0.18 0.09 0.1315 0.18 0.56 T 0.0 B 0.0 B 0.506 N 1.000 P -0.205 N 2.33 T -0.934 T 0.000 T 0.015 -0.225 2.914 1.95 0.425 0.445 8.790 -0.224752 NA 0.26 0.104419 0.073309 NA 0.138 NA 6.9900144 961 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 961 17 29159329 29159329 G A UTR5 ATAD5 NM_024857:c.-37G>A NA NA UTR5 ENSG00000176208 ENST00000321990:c.-37G>A,ENST00000578295:c.-37G>A NA NA NA NA 17q11.2 Score=765;Name=V$PAX5_02 Name=YY1_(C-20),YY1,STAT1,Pol2-4H8 Name=25 NA rs999797 0.13 0.13 0.109 0.152955 0.1083 0.1349 0.1859 0.1021 0.2628 0.1 0.16 0.18 0.11 0.1308 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.808459 2.808459 NA 0.104651 0.103268 NA 0.159 NA 6.9895824 961 17 74921072 74921072 G C exonic MGAT5B NA synonymous SNV MGAT5B:NM_198955:exon8:c.G1083C:p.R361R,MGAT5B:NM_001199172:exon9:c.G1050C:p.R350R,MGAT5B:NM_144677:exon9:c.G1050C:p.R350R exonic ENSG00000167889 NA synonymous SNV ENSG00000167889:ENST00000428789:exon8:c.G1083C:p.R361R,ENSG00000167889:ENST00000565043:exon8:c.G1083C:p.R361R,ENSG00000167889:ENST00000301618:exon9:c.G1050C:p.R350R,ENSG00000167889:ENST00000569840:exon9:c.G1050C:p.R350R Score=552;Name=lod=234 NA 17q25.2 Score=788;Name=V$AHR_01 NA NA NA rs3889145 0.21 0.21 0.195 0.217053 0.2157 0.1677 0.1988 0.1884 0.3211 0.22 0.2 0.25 0.18 0.2265 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.391798 1.391798 NA 0.235 0.194507 ID=COSM437460;OCCURENCE=2(breast) 0.261 NA 6.9894666 961 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 961 5 1208964 1208964 T C exonic SLC6A19 NA synonymous SNV SLC6A19:NM_001003841:exon2:c.T306C:p.G102G exonic ENSG00000174358 NA synonymous SNV ENSG00000174358:ENST00000304460:exon2:c.T306C:p.G102G,ENSG00000174358:ENST00000515652:exon2:c.T306C:p.G102G NA NA 5p15.33 Score=851;Name=V$HAND1E47_01 NA NA NA rs60992377 0.4 0.4 0.369 NA NA NA NA NA NA 0.3 0.37 0.47 0.54 0.3697 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.187726 NA NA 0.308095 0.546549 NA 0.384 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118390.2;CLNDSDB=.;CLNDSDBID=. 6.9888716 961 6 13599303 13599303 C T exonic SIRT5 NA synonymous SNV SIRT5:NM_001193267:exon7:c.C603T:p.H201H,SIRT5:NM_001242827:exon7:c.C333T:p.H111H,SIRT5:NM_012241:exon8:c.C657T:p.H219H,SIRT5:NM_031244:exon8:c.C657T:p.H219H exonic ENSG00000124523 NA synonymous SNV ENSG00000124523:ENST00000359782:exon7:c.C603T:p.H201H,ENSG00000124523:ENST00000397350:exon7:c.C333T:p.H111H,ENSG00000124523:ENST00000379262:exon8:c.C657T:p.H219H,ENSG00000124523:ENST00000606117:exon8:c.C657T:p.H219H Score=419;Name=lod=67 NA 6p23 Score=853;Name=V$FAC1_01 NA NA NA rs3757261 0.17 0.17 0.155 0.171725 0.2425 0.2054 0.1787 0.0461 0.229 0.23 0.17 0.18 0.05 0.2026 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393934 NA NA 0.232791 0.069678 ID=COSM1440683,COSM1440684;OCCURENCE=1(large_intestine) 0.167 NA 6.9887756 961 11 102477395 102477395 A G exonic MMP20 NA nonsynonymous SNV MMP20:NM_004771:exon6:c.T824C:p.V275A exonic ENSG00000137674 NA nonsynonymous SNV ENSG00000137674:ENST00000260228:exon6:c.T824C:p.V275A NA NA 11q22.2 NA NA NA NA rs1784423 0.4 0.4 0.382 0.419928 0.4364 0.4325 0.4424 0.2625 0.5869 0.43 0.43 0.47 0.26 0.4519 0.47 0.84 T 0.0 B 0.0 B 0.622 N 1.000 P -0.695 N 2.69 T -0.930 T 0.000 T 0.02 -1.684 0.012 4.53 0.855 0.727 7.915 -1.683853 NA 0.83 0.456734 0.308443 NA 0.5 NA 6.9882994 961 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 961 19 18710535 18710535 G A exonic CRLF1 NA synonymous SNV CRLF1:NM_004750:exon2:c.C237T:p.N79N exonic ENSG00000006016 NA synonymous SNV ENSG00000006016:ENST00000392386:exon2:c.C237T:p.N79N Score=481;Name=lod=120 NA 19p13.11 Score=862;Name=V$CMYB_01 NA NA NA rs2238647 0.28 0.28 0.276 0.267772 0.2266 0.5258 0.3458 0.0779 0.2454 0.23 0.53 0.31 0.07 0.2631 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.697933 NA NA 0.190033 0.104281 NA 0.159 NA 6.9869336 961 17 7750232 7750232 T C exonic KDM6B NA synonymous SNV KDM6B:NM_001080424:exon9:c.T807C:p.A269A exonic ENSG00000132510 NA synonymous SNV ENSG00000132510:ENST00000254846:exon9:c.T807C:p.A269A,ENSG00000132510:ENST00000448097:exon9:c.T807C:p.A269A Score=587;Name=lod=324 NA 17p13.1 Score=800;Name=V$AHR_01 NA NA NA rs11078709 0.39 0.39 0.314 0.429113 0.173 0.7917 0.3646 0.3949 0.411 0.16 0.81 0.31 0.3 0.3129 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 -0.353899 NA NA 0.194276 0.349841 NA 0.13 NA 6.9864906 961 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 961 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=Pol2-4H8,Pol2 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 961 9 79003516 79003516 C G exonic RFK NA synonymous SNV RFK:NM_018339:exon3:c.G291C:p.V97V exonic ENSG00000135002 NA synonymous SNV ENSG00000135002:ENST00000376736:exon3:c.G291C:p.V97V,ENSG00000135002:ENST00000490113:exon3:c.G252C:p.V84V Score=625;Name=lod=463 NA 9q21.13 Score=879;Name=V$SOX9_B1 NA NA NA rs10781358 0.12 0.12 0.106 0.109425 0.2356 0.0298 0.1556 0.0106 0.1626 0.23 0.03 0.14 0.03 0.1916 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.649162 NA NA 0.254302 0.053563 NA 0.116 NA 6.9851646 962 18 59936142 59936142 C T exonic KIAA1468 NA synonymous SNV KIAA1468:NM_020854:exon20:c.C2721T:p.V907V exonic ENSG00000134444 NA synonymous SNV ENSG00000134444:ENST00000256858:exon20:c.C2721T:p.V907V,ENSG00000134444:ENST00000398130:exon20:c.C2721T:p.V907V,ENSG00000134444:ENST00000587725:exon20:c.C2709T:p.V903V Score=629;Name=lod=478 NA 18q21.33 Score=900;Name=V$TATA_01 NA NA NA rs17645999 0.11 0.11 0.098 0.0914537 0.2674 0.002 0.1167 0.0061 0.1002 0.26 0.0035 0.13 0.01 0.1773 0.26 NA NA 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 0.238311 0.048343 NA 0.116 NA 6.9836556 962 14 95029852 95029852 G T exonic SERPINA4 NA synonymous SNV SERPINA4:NM_006215:exon2:c.G33T:p.L11L exonic ENSG00000100665 NA synonymous SNV ENSG00000100665:ENST00000298841:exon2:c.G33T:p.L11L,ENSG00000100665:ENST00000555095:exon2:c.G33T:p.L11L,ENSG00000100665:ENST00000557004:exon2:c.G33T:p.L11L Score=243;Name=lod=13 NA 14q32.13 NA Name=CTCF NA NA rs5508 0.21 0.21 0.237 0.229233 0.2237 0.1399 0.232 0.2958 0.2352 0.22 0.13 0.23 0.29 0.2259 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371365 NA NA 0.233605 0.297549 NA 0.174 NA 6.9834616 962 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 962 1 19950062 19950062 T C exonic MINOS1 NA synonymous SNV MINOS1:NM_001204082:exon2:c.T159C:p.H53H,MINOS1:NM_001032363:exon3:c.T207C:p.H69H,MINOS1:NM_001204083:exon3:c.T207C:p.H69H exonic ENSG00000173436,ENSG00000270136 NA synonymous SNV ENSG00000173436:ENST00000322753:exon3:c.T207C:p.H69H,ENSG00000270136:ENST00000602384:exon3:c.T186C:p.H62H Score=594;Name=lod=345 NA 1p36.13 Score=841;Name=V$BRN2_01 NA NA NA rs1737428 0.32 0.32 0.338 0.345647 0.2346 0.1419 0.2032 0.705 0.2853 0.23 0.17 0.22 0.69 0.2465 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.081305 NA NA 0.202209 0.65025 NA 0.449 NA 6.9833576 962 17 48431032 48431032 G A exonic XYLT2 NA synonymous SNV XYLT2:NM_022167:exon2:c.G177A:p.E59E exonic ENSG00000015532 NA synonymous SNV ENSG00000015532:ENST00000017003:exon2:c.G177A:p.E59E,ENSG00000015532:ENST00000376550:exon2:c.G177A:p.E59E,ENSG00000015532:ENST00000507602:exon2:c.G177A:p.E59E,ENSG00000015532:ENST00000509778:exon2:c.G132A:p.E44E Score=467;Name=lod=105 NA 17q21.33 Score=797;Name=V$PPARG_01 NA NA NA rs739990 0.14 0.14 0.11 0.131789 0.2147 0.0784 0.2795 0.0408 0.1196 0.21 0.08 0.25 0.04 0.2529 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.491929 NA NA 0.216301 0.072242 ID=COSM436838;OCCURENCE=1(breast) 0.225 NA 6.9827656 962 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 962 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 962 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 962 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 962 17 29161358 29161358 C T exonic ATAD5 NA nonsynonymous SNV ATAD5:NM_024857:exon2:c.C259T:p.P87S exonic ENSG00000176208 NA nonsynonymous SNV ENSG00000176208:ENST00000321990:exon2:c.C259T:p.P87S,ENSG00000176208:ENST00000578295:exon2:c.C259T:p.P87S NA NA 17q11.2 NA NA NA NA rs3816780 0.15 0.15 0.138 0.172524 0.1074 0.1359 0.1902 0.1762 0.2597 0.09 0.16 0.19 0.18 0.1402 0.23 1 T 0.0 B 0.0 B 0.729 N 1.000 P -2.045 N 2.37 T -0.956 T 0.000 T 0.095 -0.698 0.979 1.36 -0.279 -0.341 5.257 -0.697651 NA 0.62 0.104908 0.165683 NA 0.181 NA 6.9808254 962 12 12240199 12240199 C T exonic BCL2L14 NA synonymous SNV BCL2L14:NM_030766:exon3:c.C486T:p.Y162Y,BCL2L14:NM_138722:exon3:c.C486T:p.Y162Y,BCL2L14:NM_138723:exon3:c.C486T:p.Y162Y exonic ENSG00000121380 NA synonymous SNV ENSG00000121380:ENST00000298566:exon2:c.C486T:p.Y162Y,ENSG00000121380:ENST00000588270:exon2:c.C486T:p.Y162Y,ENSG00000121380:ENST00000266434:exon3:c.C486T:p.Y162Y,ENSG00000121380:ENST00000308721:exon3:c.C486T:p.Y162Y,ENSG00000121380:ENST00000396367:exon3:c.C486T:p.Y162Y,ENSG00000121380:ENST00000396369:exon3:c.C486T:p.Y162Y,ENSG00000121380:ENST00000589718:exon4:c.C486T:p.Y162Y,ENSG00000121380:ENST00000586576:exon5:c.C585T:p.Y195Y NA NA 12p13.2 Score=860;Name=V$HFH1_01 Name=YY1,Max,YY1_(C-20) Name=6 NA rs879732 0.51 0.51 0.506 0.464856 0.5775 0.4712 0.4582 0.4009 0.4335 0.58 0.49 0.51 0.41 0.5336 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125889 NA NA 0.576512 0.408761 NA 0.464 NA 6.9790546 962 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$NRSF_01 NA NA NA rs7915721 0.33 0.33 0.326 0.342452 0.2028 0.3006 0.2666 0.6233 0.2035 0.19 0.3 0.27 0.62 0.2629 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.222784 NA NA 0.222209 0.550386 ID=COSM1127960,COSM1127962;OCCURENCE=1(prostate) 0.348 NA 6.9787576 962 3 27473066 27473066 A G exonic SLC4A7 NA synonymous SNV SLC4A7:NM_003615:exon7:c.T846C:p.L282L exonic ENSG00000033867 NA synonymous SNV ENSG00000033867:ENST00000295736:exon7:c.T846C:p.L282L,ENSG00000033867:ENST00000425128:exon7:c.T822C:p.L274L,ENSG00000033867:ENST00000438530:exon7:c.T822C:p.L274L,ENSG00000033867:ENST00000440156:exon7:c.T834C:p.L278L,ENSG00000033867:ENST00000445684:exon7:c.T834C:p.L278L,ENSG00000033867:ENST00000446700:exon7:c.T822C:p.L274L,ENSG00000033867:ENST00000454389:exon7:c.T873C:p.L291L Score=642;Name=lod=540 NA 3p24.1 Score=774;Name=V$EVI1_01 NA NA NA rs13077400 0.17 0.17 0.156 0.164337 0.2276 0.0575 0.1772 0.1702 0.1922 0.22 0.03 0.2 0.21 0.2091 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.064699 NA NA 0.251744 0.18906 NA 0.167 NA 6.9782226 962 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 962 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 962 6 16327330 16327330 T C exonic ATXN1 NA synonymous SNV ATXN1:NM_001128164:exon7:c.A1212G:p.E404E,ATXN1:NM_000332:exon8:c.A1212G:p.E404E exonic ENSG00000124788 NA synonymous SNV ENSG00000124788:ENST00000436367:exon7:c.A1212G:p.E404E,ENSG00000124788:ENST00000244769:exon8:c.A1212G:p.E404E Score=349;Name=lod=35 NA 6p22.3 NA NA NA NA rs2075974 0.34 0.34 0.325 0.369209 0.2147 0.4772 0.2075 0.4569 0.4131 0.2 0.5 0.24 0.43 0.271 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.448781 NA NA 0.203023 0.433046 NA 0.341 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116468.2;CLNDSDB=.;CLNDSDBID=. 6.9779436 962 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$TAL1BETAE47_01 NA Name=2 NA rs361434 0.25 0.25 0.246 0.309505 0.1541 0.1121 0.2277 0.6437 0.2791 0.13 0.11 0.27 0.6 0.2068 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.766599 NA NA 0.161161 0.520235 NA 0.37 NA 6.977939 962 3 47045739 47045739 C G exonic NBEAL2 NA synonymous SNV NBEAL2:NM_015175:exon37:c.C6054G:p.P2018P exonic ENSG00000160796 NA synonymous SNV ENSG00000160796:ENST00000441027:exon1:c.C78G:p.P26P,ENSG00000160796:ENST00000292309:exon35:c.C5502G:p.P1834P,ENSG00000160796:ENST00000383740:exon37:c.C891G:p.P297P,ENSG00000160796:ENST00000450053:exon37:c.C6054G:p.P2018P NA NA 3p21.31 NA NA NA NA rs1079276 0.5 0.5 0.443 0.472045 0.5865 0.5387 0.5245 0.2383 0.5644 0.59 0.53 0.54 0.29 0.5368 0.59 0.13 T . . . . 0.555 N 1.000 P . . 0.34 T -0.880 T 0.000 T . -1.43 0.021 3.54 1.242 0.120 12.200 -1.429707 NA NA 0.565865 0.279288 NA 0.522 NA 6.9775016 962 18 8828952 8828952 C T UTR3 SOGA2 NM_015210:c.*8C>T NA NA UTR3 ENSG00000168502 ENST00000517570:c.*8C>T,ENST00000400050:c.*8C>T,ENST00000359865:c.*8C>T NA NA Score=675;Name=lod=738 NA 18p11.22 Score=789;Name=V$PAX5_01 NA Name=4 NA rs2242273 0.11 0.11 0.1 0.107628 0.1093 0.1062 0.1167 0.0809 0.137 0.11 0.11 0.12 0.1 0.1161 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.32813 2.32813 NA 0.13093 0.083976 NA 0.029 NA 6.9770034 962 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 962 19 4409756 4409756 A G exonic CHAF1A NA synonymous SNV CHAF1A:NM_005483:exon3:c.A960G:p.R320R exonic ENSG00000167670 NA synonymous SNV ENSG00000167670:ENST00000587739:exon1:c.A315G:p.R105R,ENSG00000167670:ENST00000301280:exon3:c.A960G:p.R320R Score=300;Name=lod=22 NA 19p13.3 NA Name=Pol2-4H8 NA NA rs2230636 0.14 0.14 0.13 0.138179 0.2406 0.0198 0.3055 0.0492 0.1564 0.23 0.02 0.26 0.06 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 -0.053538 NA NA 0.247558 0.089197 NA 0.232 NA 6.9766086 962 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 962 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 962 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 963 5 127469859 127469859 A G exonic SLC12A2 NA synonymous SNV SLC12A2:NM_001046:exon6:c.A1191G:p.E397E,SLC12A2:NM_001256461:exon6:c.A1191G:p.E397E exonic ENSG00000064651 NA synonymous SNV ENSG00000064651:ENST00000262461:exon6:c.A1191G:p.E397E,ENSG00000064651:ENST00000343225:exon6:c.A1191G:p.E397E,ENSG00000064651:ENST00000509205:exon6:c.A1191G:p.E397E Score=387;Name=lod=50 NA 5q23.3 Score=953;Name=V$HSF2_01 NA NA NA rs2228112 0.37 0.37 0.387 0.394369 0.1918 0.3294 0.3977 0.7337 0.2086 0.19 0.36 0.31 0.72 0.2795 0.72 NA NA 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 0.220568 0.620064 NA 0.341 NA 6.9747986 963 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 963 6 28963248 28963248 T G exonic ZNF311 NA nonsynonymous SNV ZNF311:NM_001010877:exon7:c.A1531C:p.K511Q exonic ENSG00000197935 NA nonsynonymous SNV ENSG00000197935:ENST00000377179:exon7:c.A1531C:p.K511Q NA NA 6p22.1 NA Name=SETDB1,KAP1 NA NA rs6456880 0.62 0.62 0.633 0.667133 0.4354 0.6508 0.5692 0.9539 0.6043 0.4 0.66 0.56 0.95 0.5088 0.95 0.27 T 0.0 B 0.0 B . . 1.000 P 1.165 L 2.58 T -0.948 T 0.009 T 0.019 -0.938 0.364 1.82 0.009 0.492 5.603 -0.938 NA 0.39 0.414729 0.855725 ID=COSM451117;OCCURENCE=1(breast),1(large_intestine) 0.681 NA 6.9744044 963 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 963 16 3297181 3297181 C T exonic MEFV NA synonymous SNV MEFV:NM_001198536:exon4:c.G789A:p.E263E,MEFV:NM_000243:exon5:c.G1422A:p.E474E exonic ENSG00000103313 NA synonymous SNV ENSG00000103313:ENST00000536379:exon4:c.G789A:p.E263E,ENSG00000103313:ENST00000536980:exon4:c.G789A:p.E263E,ENSG00000103313:ENST00000541159:exon4:c.G789A:p.E263E,ENSG00000103313:ENST00000219596:exon5:c.G1422A:p.E474E,ENSG00000103313:ENST00000339854:exon5:c.G882A:p.E294E,ENSG00000103313:ENST00000537682:exon5:c.G1422A:p.E474E,ENSG00000103313:ENST00000542898:exon6:c.G1515A:p.E505E Score=369;Name=lod=42 NA 16p13.3 NA NA Name=5 NA rs224208 0.61 0.61 0.591 0.638978 0.5577 0.6062 0.6239 0.6407 0.7648 0.56 0.62 0.62 0.68 0.6027 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.835045 NA NA 0.532558 0.633136 NA 0.616 CLINSIG=non-pathogenic;CLNDBN=Familial_Mediterranean_fever;CLNREVSTAT=single;CLNACC=RCV000030172.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1227:C0031069:249100:ORPHA342:12579009 6.9737086 963 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 963 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=GATA2_(CG2-96),CHD2_(N-1250),HA-E2F1,GATA-2,Pol2,Pol2(phosphoS2),USF-1,E2F6,Brg1,POU2F2,E2F6_(H-50),Ini1,HDAC2_(SC-6296),BCL11A,Pol2-4H8,ZEB1_(SC-25388),HMGN3,TAF1,NFKB,GATA-1,BCLAF1_(M33-P5B11),HEY1,ETS1,c-Myc,Oct-2,ZBTB33,PAX5-C20,Mxi1_(bHLH),GATA3_(SC-268),Sin3Ak-20,Pol2(b),CCNT2,Egr-1,JunD,SIRT6,eGFP-GATA2,ZNF263 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 963 4 86915923 86915923 G A exonic ARHGAP24 NA synonymous SNV ARHGAP24:NM_031305:exon6:c.G837A:p.R279R,ARHGAP24:NM_001042669:exon7:c.G831A:p.R277R,ARHGAP24:NM_001025616:exon9:c.G1116A:p.R372R exonic ENSG00000138639 NA synonymous SNV ENSG00000138639:ENST00000264343:exon6:c.G837A:p.R279R,ENSG00000138639:ENST00000395183:exon7:c.G831A:p.R277R,ENSG00000138639:ENST00000514229:exon7:c.G861A:p.R287R,ENSG00000138639:ENST00000395184:exon9:c.G1116A:p.R372R NA NA 4q21.3 NA Name=c-Fos Name=23 NA rs11547776 0.24 0.24 0.213 0.254593 0.2227 0.3135 0.2882 0.1036 0.407 0.22 0.33 0.31 0.11 0.251 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157129 NA NA 0.221512 0.142533 ID=COSM149706;OCCURENCE=1(stomach) 0.232 NA 6.9714546 963 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 963 9 73151970 73151970 C T exonic TRPM3 NA synonymous SNV TRPM3:NM_206944:exon24:c.G3534A:p.S1178S,TRPM3:NM_001007471:exon25:c.G4023A:p.S1341S,TRPM3:NM_020952:exon25:c.G3564A:p.S1188S,TRPM3:NM_206945:exon25:c.G3570A:p.S1190S,TRPM3:NM_206947:exon25:c.G3609A:p.S1203S,TRPM3:NM_024971:exon26:c.G3600A:p.S1200S,TRPM3:NM_206946:exon26:c.G3639A:p.S1213S exonic ENSG00000083067 NA synonymous SNV ENSG00000083067:ENST00000358082:exon23:c.G3609A:p.S1203S,ENSG00000083067:ENST00000396280:exon23:c.G3570A:p.S1190S,ENSG00000083067:ENST00000396285:exon23:c.G3600A:p.S1200S,ENSG00000083067:ENST00000396292:exon24:c.G3639A:p.S1213S,ENSG00000083067:ENST00000408909:exon24:c.G3600A:p.S1200S,ENSG00000083067:ENST00000357533:exon25:c.G4035A:p.S1345S,ENSG00000083067:ENST00000360823:exon25:c.G3609A:p.S1203S,ENSG00000083067:ENST00000377110:exon25:c.G4023A:p.S1341S,ENSG00000083067:ENST00000377105:exon26:c.G3600A:p.S1200S,ENSG00000083067:ENST00000377106:exon26:c.G3639A:p.S1213S,ENSG00000083067:ENST00000423814:exon26:c.G4104A:p.S1368S NA NA 9q21.12 NA NA NA NA rs3739776 0.6 0.6 0.605 0.562101 0.5815 0.6954 0.5706 0.5703 0.3875 0.59 0.71 0.53 0.57 0.5637 0.71 . . . . . . . . 0.001 P . . . . -0.990 T 0.000 T . -0.636 1.188 -11.7 -1.804 -1.088 7.372 -0.636184 NA NA 0.550465 0.576941 NA 0.645 NA 6.9710016 963 1 167973976 167973976 C T exonic DCAF6 NA synonymous SNV DCAF6:NM_001198957:exon9:c.C1230T:p.D410D,DCAF6:NM_001017977:exon10:c.C1323T:p.D441D,DCAF6:NM_001198956:exon10:c.C1323T:p.D441D,DCAF6:NM_018442:exon10:c.C1323T:p.D441D exonic ENSG00000143164 NA synonymous SNV ENSG00000143164:ENST00000432587:exon9:c.C1230T:p.D410D,ENSG00000143164:ENST00000312263:exon10:c.C1323T:p.D441D,ENSG00000143164:ENST00000367840:exon10:c.C1323T:p.D441D,ENSG00000143164:ENST00000367843:exon10:c.C1323T:p.D441D,ENSG00000143164:ENST00000470721:exon10:c.C1323T:p.D441D Score=419;Name=lod=67 NA 1q24.2 NA Name=GATA-1 NA NA rs1060041 0.18 0.18 0.153 0.167931 0.2266 0.1339 0.3876 0.0401 0.1595 0.23 0.15 0.3 0.05 0.2318 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.947599 NA NA 0.237497 0.08965 NA 0.225 NA 6.9707696 963 20 45133290 45133290 A G exonic ZNF334 NA synonymous SNV ZNF334:NM_018102:exon3:c.T111C:p.D37D,ZNF334:NM_001270497:exon4:c.T108C:p.D36D exonic ENSG00000198185 NA nonsynonymous SNV ENSG00000198185:ENST00000593880:exon2:c.T127C:p.C43R Score=313;Name=lod=25 NA 20q13.12 NA NA NA NA rs41283034 0.01 0.01 0.007 0.0061901 0.0099 NA 0.0058 0.0098 0.0041 0.01 NA 0.01 0.03 0.0077 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 1.14307 NA 0 0.012442 0.00227 NA 0.022 NA 6.969958 963 8 17612639 17612639 T C exonic MTUS1 NA synonymous SNV MTUS1:NM_001001924:exon2:c.A678G:p.E226E,MTUS1:NM_001001925:exon2:c.A678G:p.E226E exonic ENSG00000129422 NA synonymous SNV ENSG00000129422:ENST00000519263:exon1:c.A678G:p.E226E,ENSG00000129422:ENST00000262102:exon2:c.A678G:p.E226E,ENSG00000129422:ENST00000381862:exon2:c.A678G:p.E226E,ENSG00000129422:ENST00000381869:exon2:c.A678G:p.E226E NA NA 8p22 NA Name=SMC3_(ab9263),Rad21,CTCF Name=71 NA rs209568 0.25 0.25 0.225 0.294728 0.2237 0.4464 0.2046 0.0741 0.5736 0.23 0.46 0.22 0.07 0.2707 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278689 NA NA 0.202962 0.089352 NA 0.145 NA 6.9693046 963 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 963 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 963 10 124214251 124214251 G A exonic ARMS2 NA nonsynonymous SNV ARMS2:NM_001099667:exon1:c.G8A:p.R3H exonic ENSG00000254636 NA nonsynonymous SNV ENSG00000254636:ENST00000528446:exon1:c.G8A:p.R3H NA NA 10q26.13 NA NA NA NA rs10490923 0.07 0.07 0.073 0.0750799 0.1302 0.0119 0.0749 0.0272 0.1483 0.14 0.01 0.1 0.02 0.1067 0.14 0.52 T 0.0 B 0.0 B . . 1.000 P 0 N 1.04 T -1.008 T 0.000 T 0.014 -0.305 2.548 -0.729 -0.202 -0.547 4.419 -0.304798 NA NA 0.129727 0.035714 ID=COSM1346402;OCCURENCE=2(large_intestine) 0.145 NA 6.9667064 963 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 963 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 964 1 158517353 158517353 G A exonic OR6Y1 NA synonymous SNV OR6Y1:NM_001005189:exon1:c.C543T:p.H181H exonic ENSG00000197532 NA synonymous SNV ENSG00000197532:ENST00000302617:exon1:c.C543T:p.H181H Score=452;Name=lod=92 NA 1q23.1 Score=875;Name=V$PBX1_02 NA NA NA rs16840314 0.23 0.23 0.205 0.194489 0.2416 0.376 0.219 0.028 0.1667 0.25 0.39 0.2 0.03 0.2294 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.529962 NA NA 0.230698 0.069905 NA 0.174 NA 6.9649686 964 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 964 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 964 18 59780424 59780424 A G exonic PIGN NA synonymous SNV PIGN:NM_012327:exon15:c.T1377C:p.S459S,PIGN:NM_176787:exon16:c.T1377C:p.S459S exonic ENSG00000197563 NA synonymous SNV ENSG00000197563:ENST00000400334:exon15:c.T1377C:p.S459S,ENSG00000197563:ENST00000357637:exon16:c.T1377C:p.S459S Score=464;Name=lod=103 NA 18q21.33 Score=799;Name=V$HNF1_C NA NA NA rs17714875 0.12 0.12 0.118 0.0934505 0.2694 0.0069 0.1239 0.0061 0.0982 0.26 0.0035 0.14 0.01 0.1851 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.146981 NA NA 0.249207 0.052235 NA 0.145 NA 6.9629596 964 21 45553596 45553596 T C exonic C21orf33 NA nonsynonymous SNV C21orf33:NM_004649:exon1:c.T17C:p.V6A,C21orf33:NM_198155:exon1:c.T17C:p.V6A exonic ENSG00000160221 NA nonsynonymous SNV ENSG00000160221:ENST00000291577:exon1:c.T17C:p.V6A,ENSG00000160221:ENST00000348499:exon1:c.T17C:p.V6A,ENSG00000160221:ENST00000427803:exon1:c.T17C:p.V6A NA NA 21q22.3 NA Name=HEY1,STAT1,NF-YA,NFKB,BCL3,TAF1,Pol2-4H8,E2F6_(H-50),GTF2B,E2F6,POU2F2,Pol2(phosphoS2),Pol2,USF1_(SC-8983),GR,CCNT2,TBP,TR4,YY1,RXRA,eGFP-JunD,Sin3Ak-20,NRSF,YY1_(C-20),Max,c-Myc,Oct-2 NA NA rs968714 0.66 0.66 0.613 0.591853 0.8211 0.7004 0.6816 0.3139 0.5562 0.81 0.7 0.7 0.34 0.7432 0.81 1 T 0.0 B 0.0 B 0.986 N 1.000 P -0.665 N 1.87 T -0.971 T 0.000 T 0.095 -0.307 2.537 -1.32 -0.466 -1.246 8.835 -0.307097 NA 0.22 0.80617 0.369941 ID=COSM444566;OCCURENCE=1(breast) 0.645 NA 6.9628634 964 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 964 1 12820870 12820870 T C exonic C1orf158 NA nonsynonymous SNV C1orf158:NM_152290:exon4:c.T571C:p.F191L exonic ENSG00000157330 NA nonsynonymous SNV ENSG00000157330:ENST00000376210:exon3:c.T457C:p.F153L,ENSG00000157330:ENST00000288048:exon4:c.T571C:p.F191L NA NA 1p36.21 NA NA NA NA rs1132185 0.83 0.83 0.84 0.823482 0.7873 0.7808 0.8545 0.9153 0.7587 0.8 0.8 0.83 0.91 0.7952 0.91 0.58 T 0.0 B 0.0 B 0.011 N 1.000 P 0 N 1.17 T -0.993 T 0.000 T 0.012 0.306 5.655 -8.68 -1.940 -0.774 1.177 0.305549 NA 0.84 0.789419 0.893327 NA 0.725 NA 6.9614144 964 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 964 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 964 6 30078275 30078275 C T exonic TRIM31 NA nonsynonymous SNV TRIM31:NM_007028:exon4:c.G694A:p.V232I exonic ENSG00000204616 NA nonsynonymous SNV ENSG00000204616:ENST00000376734:exon4:c.G694A:p.V232I,ENSG00000204616:ENST00000540829:exon4:c.G694A:p.V232I NA NA 6p22.1 NA NA NA NA rs2523989 0.09 0.09 0.082 0.0746805 0.1203 0.0486 0.1239 0.0492 0.0542 0.12 0.07 0.15 0.03 0.1144 0.15 1 T 0.037 B 0.006 B . . 1.000 P -0.695 N 0.06 T -1.022 T 0.019 T 0.042 -1.464 0.019 0.419 0.013 0.141 3.115 -1.464264 NA 1 0.140349 0.067181 NA 0.123 NA 6.9582844 964 5 115298475 115298475 T C exonic AQPEP NA nonsynonymous SNV AQPEP:NM_173800:exon1:c.T161C:p.L54S exonic ENSG00000172901 NA nonsynonymous SNV ENSG00000172901:ENST00000357872:exon1:c.T161C:p.L54S,ENSG00000172901:ENST00000504467:exon1:c.T161C:p.L54S NA NA 5q23.1 NA Name=CTCF Name=37 NA rs12520255 0.78 0.78 0.715 0.773962 0.7823 0.747 0.804 0.8533 0.6646 0.77 0.71 0.81 0.84 0.7815 0.85 0.87 T 0.0 B 0.0 B 0.257 N 1.000 P -0.345 N 5.13 T -1.067 T 0.000 T 0.035 -0.151 3.263 -0.439 -0.232 -0.553 3.740 -0.150843 NA 0.53 0.811312 0.846929 NA 0.464 NA 6.9582214 964 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 964 9 114411945 114411945 G T exonic DNAJC25 NA synonymous SNV DNAJC25:NM_001015882:exon3:c.G702T:p.G234G exonic ENSG00000059769 NA synonymous SNV ENSG00000059769:ENST00000313525:exon3:c.G702T:p.G234G Score=602;Name=lod=374 NA 9q31.3 Score=885;Name=V$TATA_01 NA NA NA rs7019332 0.35 0.35 0.32 0.312101 0.2306 0.4127 0.4251 0.3517 0.1585 0.23 0.46 0.36 0.4 0.267 0.46 NA NA 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 0.211368 0.317553 NA 0.268 NA 6.9576986 964 15 85478729 85478729 G A exonic SLC28A1 NA nonsynonymous SNV SLC28A1:NM_004213:exon15:c.G1561A:p.D521N exonic ENSG00000156222 NA nonsynonymous SNV ENSG00000156222:ENST00000286749:exon14:c.G1561A:p.D521N,ENSG00000156222:ENST00000394573:exon15:c.G1561A:p.D521N,ENSG00000156222:ENST00000537216:exon15:c.G1561A:p.D521N,ENSG00000156222:ENST00000537624:exon15:c.G1561A:p.D521N NA NA 15q25.3 Score=794;Name=V$COMP1_01 NA NA NA rs2242046 0.26 0.26 0.262 0.208067 0.503 0.0605 0.2622 0.0325 0.2556 0.51 0.07 0.29 0.05 0.3754 0.51 0.1 T 0.061 B 0.009 B 0.989 N 1.000 P 0.805 L 4.68 T -0.991 T 0.000 T 0.045 0.89 8.616 -0.144 -0.177 0.816 2.074 0.890211 NA 0.08 0.497558 0.103495 NA 0.246 NA 6.9573754 964 18 59483514 59483514 A G exonic RNF152 NA synonymous SNV RNF152:NM_173557:exon2:c.T183C:p.P61P exonic ENSG00000176641 NA synonymous SNV ENSG00000176641:ENST00000312828:exon2:c.T183C:p.P61P,ENSG00000176641:ENST00000591306:exon3:c.T183C:p.P61P Score=464;Name=lod=103 NA 18q21.33 Score=974;Name=V$AP2GAMMA_01 NA NA NA rs9319985 0.2 0.2 0.217 0.217053 0.2515 0.0992 0.1931 0.3343 0.1616 0.25 0.1 0.17 0.28 0.2184 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.690007 NA NA 0.239419 0.301407 ID=COSM1389397;OCCURENCE=1(large_intestine) 0.232 NA 6.9573476 964 16 12662420 12662420 C T exonic SNX29 NA synonymous SNV SNX29:NM_032167:exon21:c.C2376T:p.F792F exonic ENSG00000048471 NA synonymous SNV ENSG00000048471:ENST00000306030:exon14:c.C1221T:p.F407F,ENSG00000048471:ENST00000566228:exon21:c.C2376T:p.F792F Score=452;Name=lod=92 NA 16p13.12 Score=996;Name=V$STAT3_02 NA NA NA rs2288423 0.32 0.32 0.299 0.326278 0.2306 0.4524 0.2017 0.41 0.2699 0.25 0.44 0.22 0.38 0.2575 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.285079 1.285079 NA 0.221558 0.337659 NA 0.326 NA 6.9570086 964 19 35843086 35843086 G A exonic FFAR1 NA nonsynonymous SNV FFAR1:NM_005303:exon1:c.G632A:p.R211H exonic ENSG00000126266 NA nonsynonymous SNV ENSG00000126266:ENST00000246553:exon1:c.G632A:p.R211H NA NA 19q13.12 NA NA NA NA rs2301151 0.82 0.82 0.823 0.879593 0.7714 0.8056 0.8746 0.9902 0.9213 0.75 0.76 0.83 0.98 0.8263 0.98 0.17 T 0.001 B 0.001 B 0.463 N 1.000 P 0.255 N 0.94 T -1.030 T 0.000 T 0.104 -0.186 3.093 -4.61 -1.498 0.285 9.798 -0.186384 NA 0.52 0.779422 0.950274 NA 0.819 NA 6.9562114 964 14 22984586 22984586 A C intergenic OR4E2,DAD1 dist=850348;dist=49221 NA NA upstream ENSG00000211861,ENSG00000211862 NA NA NA Score=414;Name=lod=64 NA 14q11.2 Score=881;Name=V$CEBPA_01 Name=Pol2,POU2F2,p300,Pol2-4H8,NFKB,TAF1,Oct-2,TBP Name=29 NA rs3764159 0.24 0.24 0.212 0.219649 0.17 0.5367 0.17 0.0469 0.2127 0.17 0.52 0.16 0.07 0.2247 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.295963 1.295963 0.73 0.14927 0.060363 NA 0.159 NA 6.95603 964 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 964 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$IRF7_01 NA NA NA rs3744552 0.49 0.49 0.488 0.473642 0.6272 0.124 0.4841 0.7292 0.3231 0.62 0.12 0.49 0.73 0.5025 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168423 NA NA 0.581047 0.694961 NA 0.442 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117688.1;CLNDSDB=.;CLNDSDBID=. 6.9559196 964 7 73152796 73152796 G A intronic ABHD11 NA NA NA intronic ENSG00000106077 NA NA NA Score=417;Name=lod=66 NA 7q11.23 NA Name=PU.1,TAF1,ELF1_(SC-631),Pol2 Name=83 NA rs150117672 0.01 0.01 0.003 0.00499201 0.0149 NA 0.0101 NA 0.0031 0.01 NA 0.01 NA 0.013 0.016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.090485 NA NA 0.016279 0.004316 NA NA NA 6.955821 964 11 78443586 78443586 G A exonic TENM4 NA synonymous SNV TENM4:NM_001098816:exon21:c.C2913T:p.I971I exonic ENSG00000149256 NA synonymous SNV ENSG00000149256:ENST00000278550:exon21:c.C2913T:p.I971I Score=512;Name=lod=161 NA 11q14.1 Score=868;Name=V$ZID_01 NA NA NA rs17826919 0.14 0.14 0.136 0.121006 0.2535 0.0833 0.1758 0.0212 0.1196 0.26 0.07 0.17 0.03 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 1.452874 1.452874 NA 0.247605 0.055196 NA 0.217 NA 6.9556616 965 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 965 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 965 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 965 8 145661675 145661675 G A exonic TONSL NA nonsynonymous SNV TONSL:NM_013432:exon17:c.C2141T:p.A714V exonic ENSG00000160949 NA nonsynonymous SNV ENSG00000160949:ENST00000409379:exon17:c.C2141T:p.A714V NA NA 8q24.3 NA NA NA NA rs7830832 0.39 0.39 0.365 0.442292 0.4662 0.4246 0.4265 0.3192 0.6135 0.45 0.38 0.41 0.31 0.4603 0.46 0.33 T 0.011 B 0.011 B 0.486 N 1.000 P 1.1 L 0.8 T -0.927 T 0.000 T 0.032 4.055 20.8 2.85 0.902 0.522 7.113 4.054738 4.054738 0.13 0.455134 0.346207 NA 0.406 NA 6.9516994 965 17 5425077 5425077 T C exonic NLRP1 NA nonsynonymous SNV NLRP1:NM_033006:exon12:c.A3460G:p.M1154V,NLRP1:NM_033007:exon12:c.A3460G:p.M1154V,NLRP1:NM_001033053:exon13:c.A3562G:p.M1188V,NLRP1:NM_014922:exon13:c.A3550G:p.M1184V,NLRP1:NM_033004:exon13:c.A3550G:p.M1184V exonic ENSG00000091592 NA nonsynonymous SNV ENSG00000091592:ENST00000354411:exon12:c.A3460G:p.M1154V,ENSG00000091592:ENST00000577119:exon12:c.A3460G:p.M1154V,ENSG00000091592:ENST00000262467:exon13:c.A3562G:p.M1188V,ENSG00000091592:ENST00000345221:exon13:c.A3550G:p.M1184V,ENSG00000091592:ENST00000544378:exon13:c.A3562G:p.M1188V,ENSG00000091592:ENST00000572272:exon13:c.A3550G:p.M1184V,ENSG00000091592:ENST00000269280:exon14:c.A3550G:p.M1184V NA NA 17p13.2 NA NA NA NA rs11651270 0.41 0.41 0.413 0.417931 0.4612 0.2768 0.4294 0.4841 0.4213 0.45 0.27 0.39 0.51 0.4549 0.51 1 T 0.0 B 0.0 B 0.058 N 1.000 P -2.485 N 2.82 T -0.940 T 0.000 T 0.061 -1.251 0.051 2.26 0.565 0.439 6.051 -1.251336 NA 1 0.468372 0.51044 NA 0.399 NA 6.9488614 965 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$STAT3_01 Name=STAT3,Pbx3,BCL3 NA NA rs2296616 0.7 0.7 0.711 0.702476 0.5567 0.9435 0.6326 0.7095 0.6442 0.55 0.94 0.59 0.75 0.6181 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547456 NA NA 0.545 0.692238 NA 0.645 NA 6.9468666 965 1 94476388 94476388 C G exonic ABCA4 NA synonymous SNV ABCA4:NM_000350:exon40:c.G5682C:p.L1894L exonic ENSG00000198691 NA synonymous SNV ENSG00000198691:ENST00000535881:exon3:c.G39C:p.L13L,ENSG00000198691:ENST00000536513:exon5:c.G492C:p.L164L,ENSG00000198691:ENST00000370225:exon40:c.G5682C:p.L1894L Score=514;Name=lod=164 NA 1p22.1 NA NA NA NA rs1801574 0.22 0.22 0.196 0.200679 0.2495 0.12 0.2075 0.2738 0.1299 0.24 0.16 0.22 0.26 0.2197 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.67773 NA NA 0.251744 0.244439 ID=COSM146563;OCCURENCE=1(stomach) 0.254 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000085750.2;CLNDSDB=.;CLNDSDBID=. 6.9457226 965 17 48431197 48431197 C T exonic XYLT2 NA synonymous SNV XYLT2:NM_022167:exon2:c.C342T:p.P114P exonic ENSG00000015532 NA synonymous SNV ENSG00000015532:ENST00000017003:exon2:c.C342T:p.P114P,ENSG00000015532:ENST00000376550:exon2:c.C342T:p.P114P,ENSG00000015532:ENST00000507602:exon2:c.C342T:p.P114P Score=284;Name=lod=19 NA 17q21.33 Score=884;Name=V$MAZR_01 NA NA NA rs739989 0.14 0.14 0.11 0.132388 0.2147 0.0794 0.2795 0.0424 0.1196 0.21 0.08 0.25 0.04 0.3036 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136146 NA NA 0.203 0.06253 NA 0.239 NA 6.9453666 965 2 235950002 235950002 G A exonic SH3BP4 NA nonsynonymous SNV SH3BP4:NM_014521:exon4:c.G589A:p.A197T exonic ENSG00000130147 NA nonsynonymous SNV ENSG00000130147:ENST00000344528:exon4:c.G589A:p.A197T,ENSG00000130147:ENST00000392011:exon4:c.G589A:p.A197T,ENSG00000130147:ENST00000409212:exon4:c.G589A:p.A197T NA NA 2q37.2 NA NA NA NA rs3731646 0.26 0.26 0.249 0.298522 0.0915 0.4097 0.3256 0.2859 0.3947 0.1 0.44 0.25 0.29 0.193 0.44 0.62 T 0.0 B 0.0 B 0.085 N 1.000 P -0.695 N 3.03 T -0.957 T 0.000 T 0.028 -2.051 0.006 -0.018 -0.176 0.383 5.750 -2.051408 NA 1 0.103605 0.2601 NA 0.275 NA 6.9452284 965 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 966 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 966 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 966 6 146755515 146755515 T G exonic GRM1 NA synonymous SNV GRM1:NM_000838:exon9:c.T3168G:p.G1056G exonic ENSG00000152822 NA synonymous SNV ENSG00000152822:ENST00000282753:exon8:c.T3168G:p.G1056G,ENSG00000152822:ENST00000361719:exon9:c.T3168G:p.G1056G Score=278;Name=lod=18 NA 6q24.3 Score=761;Name=V$PAX5_02 NA NA NA rs6923864 0.65 0.65 0.648 0.690695 0.5815 0.6131 0.5101 0.947 0.6646 0.57 0.59 0.52 0.92 0.5773 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.587982 NA NA 0.565288 0.886913 NA 0.609 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117206.2;CLNDSDB=.;CLNDSDBID=. 6.9425786 966 4 5743512 5743512 T C exonic EVC NA nonsynonymous SNV EVC:NM_153717:exon6:c.T772C:p.Y258H exonic ENSG00000072840 NA nonsynonymous SNV ENSG00000072840:ENST00000264956:exon6:c.T772C:p.Y258H,ENSG00000072840:ENST00000382674:exon6:c.T772C:p.Y258H,ENSG00000072840:ENST00000509451:exon6:c.T772C:p.Y258H NA NA 4p16.2 NA NA NA NA rs6414624 0.77 0.77 0.746 0.744808 0.7932 0.9048 0.7839 0.5015 0.8313 0.8 0.91 0.81 0.53 0.7951 0.91 0.44 T 0.009 B 0.016 B 0.403 N 1.000 P 1.735 L 0.64 T -1.006 T 0.000 T 0.116 0.309 5.677 2.72 0.309 1.926 8.084 0.30946 NA 0.38 0.803492 0.518619 NA 0.79 NA 6.9415414 966 3 121354583 121354583 G A exonic HCLS1 NA synonymous SNV HCLS1:NM_005335:exon9:c.C690T:p.A230A exonic ENSG00000180353 NA synonymous SNV ENSG00000180353:ENST00000428394:exon8:c.C579T:p.A193A,ENSG00000180353:ENST00000314583:exon9:c.C690T:p.A230A Score=551;Name=lod=231 NA 3q13.33 Score=809;Name=V$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 966 13 24436475 24436475 C T exonic MIPEP NA nonsynonymous SNV MIPEP:NM_005932:exon9:c.G1019A:p.R340Q exonic ENSG00000027001 NA nonsynonymous SNV ENSG00000027001:ENST00000382172:exon9:c.G1019A:p.R340Q NA NA 13q12.12 NA NA NA NA rs11551114 0.07 0.07 0.075 0.0654952 0.1312 0.001 0.072 0.0582 0.0695 0.13 0.0017 0.05 0.07 0.1307 0.13 0.31 T 0.034 B 0.009 B 0.015 N 1.000 P 0.95 L 3.22 T -0.968 T 0.000 T 0.053 0.384 6.085 1.51 0.473 0.276 4.529 0.383896 NA 0.77 0.131235 0.061931 NA 0.08 NA 6.9401984 966 12 63544209 63544209 A G exonic AVPR1A NA synonymous SNV AVPR1A:NM_000706:exon1:c.T408C:p.F136F exonic ENSG00000166148 NA synonymous SNV ENSG00000166148:ENST00000299178:exon1:c.T408C:p.F136F Score=728;Name=lod=1212 NA 12q14.2 NA Name=TCF12,SUZ12 Name=8 NA rs1042615 0.62 0.62 0.626 0.650759 0.5368 0.4583 0.6441 0.8525 0.6984 0.54 0.51 0.66 0.85 0.6108 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 1.338459 1.338459 NA 0.578874 0.825238 ID=COSM1562502;OCCURENCE=1(large_intestine) 0.609 NA 6.9401926 966 2 9514917 9514917 C T exonic ASAP2 NA synonymous SNV ASAP2:NM_001135191:exon17:c.C1590T:p.Y530Y,ASAP2:NM_003887:exon17:c.C1590T:p.Y530Y exonic ENSG00000151693 NA synonymous SNV ENSG00000151693:ENST00000281419:exon17:c.C1590T:p.Y530Y,ENSG00000151693:ENST00000315273:exon17:c.C1590T:p.Y530Y Score=452;Name=lod=92 NA 2p25.1 Score=805;Name=V$GFI1_01 NA NA NA rs33930824 0.12 0.12 0.114 0.132188 0.2594 0.001 0.1513 0.0295 0.2618 0.26 NA 0.17 0.03 0.2113 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.877267 NA NA 0.256279 0.068543 NA 0.109 NA 6.9396876 966 4 120214030 120214030 T G exonic USP53 NA nonsynonymous SNV USP53:NM_019050:exon18:c.T2886G:p.S962R exonic ENSG00000145390 NA nonsynonymous SNV ENSG00000145390:ENST00000450251:exon15:c.T2886G:p.S962R,ENSG00000145390:ENST00000274030:exon19:c.T2886G:p.S962R NA NA 4q26 NA NA NA NA rs3749591 0.28 0.28 0.264 0.244808 0.3032 0.3859 0.2824 0.1195 0.182 0.3 0.4 0.24 0.11 0.276 0.4 0.06 T 0.501 P 0.08 B 0.767 N 1.000 P 1.845 L 0.83 T -0.981 T 0.000 T 0.071 1.98 12.58 -1.66 -0.151 -0.174 6.327 1.979529 1.979529 0.01 0.314528 0.138977 ID=COSM149731;OCCURENCE=1(stomach) 0.275 NA 6.9396054 966 5 56177743 56177743 G A exonic MAP3K1 NA nonsynonymous SNV MAP3K1:NM_005921:exon14:c.G2716A:p.V906I exonic ENSG00000095015 NA nonsynonymous SNV ENSG00000095015:ENST00000399503:exon14:c.G2716A:p.V906I NA NA 5q11.2 NA NA NA NA rs832582 0.7 0.7 0.696 0.708267 0.8062 0.5704 0.6527 0.7126 0.7832 0.8 0.53 0.68 0.74 0.7648 0.82 0.78 T 0.0 B 0.0 B 0.279 N 1.000 P 1.5 L 1.56 T -1.009 T 0.000 T 0.012 -2.036 0.006 3.58 0.764 0.964 12.236 -2.035567 NA 0.71 0.822823 0.745373 NA 0.746 NA 6.9395104 966 13 45841502 45841502 G A exonic GTF2F2 NA synonymous SNV GTF2F2:NM_004128:exon7:c.G621A:p.K207K exonic ENSG00000188342 NA synonymous SNV ENSG00000188342:ENST00000340473:exon7:c.G621A:p.K207K Score=682;Name=lod=785 NA 13q14.13 Score=754;Name=V$SEF1_C NA NA NA rs7331090 0.3 0.3 0.314 0.319289 0.2296 0.0565 0.2205 0.7542 0.1646 0.23 0.06 0.25 0.71 0.2507 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.239032 NA NA 0.247209 0.677485 NA 0.362 NA 6.9391576 966 11 3249984 3249984 C T exonic MRGPRE NA nonsynonymous SNV MRGPRE:NM_001039165:exon2:c.G46A:p.G16S exonic ENSG00000184350 NA nonsynonymous SNV ENSG00000184350:ENST00000389832:exon2:c.G46A:p.G16S,ENSG00000184350:ENST00000436689:exon2:c.G43A:p.G15S NA NA 11p15.4 NA NA NA NA rs12295710 0.38 0.38 0.362 0.33147 0.495 0.4692 0.3026 0.0567 0.4131 0.5 0.51 0.33 0.07 0.4253 0.51 0.85 T 0.0 B 0.0 B 0.888 N 1.000 P 0 N . . -0.929 T 0.000 T 0.048 0.879 8.567 -2.32 -0.503 -0.223 6.712 0.879164 NA 0.13 0.474421 0.123344 NA 0.37 NA 6.9386124 966 3 9945059 9945059 C T intronic IL17RE NA NA NA intronic ENSG00000163701 NA NA NA NA NA 3p25.3 Score=858;Name=V$EVI1_04 Name=c-Jun,Pol2-4H8,Egr-1,c-Fos Name=72 NA rs114351845 0.01 0.01 0.007 0.00758786 0.0219 NA 0.0115 NA 0.0082 0.02 NA 0.01 NA 0.0161 0.025 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.144984 2.144984 NA 0.024535 0.00522 NA 0.014 NA 6.937465 966 17 56621286 56621286 G T exonic C17orf47 NA nonsynonymous SNV C17orf47:NM_001038704:exon1:c.C262A:p.P88T exonic ENSG00000181013 NA nonsynonymous SNV ENSG00000181013:ENST00000321691:exon1:c.C262A:p.P88T NA NA 17q22 Score=827;Name=V$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 966 12 124857033 124857033 C T exonic NCOR2 NA nonsynonymous SNV NCOR2:NM_001077261:exon21:c.G2288A:p.G763E,NCOR2:NM_001206654:exon21:c.G2288A:p.G763E,NCOR2:NM_006312:exon22:c.G2342A:p.G781E exonic ENSG00000196498 NA nonsynonymous SNV ENSG00000196498:ENST00000448614:exon4:c.G461A:p.G154E,ENSG00000196498:ENST00000397355:exon20:c.G2291A:p.G764E,ENSG00000196498:ENST00000404121:exon20:c.G1001A:p.G334E,ENSG00000196498:ENST00000404621:exon20:c.G2288A:p.G763E,ENSG00000196498:ENST00000405201:exon20:c.G2342A:p.G781E,ENSG00000196498:ENST00000429285:exon20:c.G2288A:p.G763E,ENSG00000196498:ENST00000356219:exon21:c.G2342A:p.G781E,ENSG00000196498:ENST00000458234:exon22:c.G2342A:p.G781E NA NA 12q24.31 NA NA NA NA rs7978237 0.08 0.08 0.077 0.0806709 0.1233 NA 0.1513 0.0832 0.0665 0.13 NA 0.14 0.07 0.1326 0.14 1 T 0.0 B 0.0 B 0.548 N 1.000 P 0 N 2.39 T -1.030 T 0.000 T 0.221 0.745 7.951 -0.616 -0.080 0.568 2.161 0.744878 NA 0.73 0.140495 0.073358 NA 0.036 NA 6.9369384 966 14 59939727 59939727 T C exonic L3HYPDH NA nonsynonymous SNV L3HYPDH:NM_144581:exon5:c.A1021G:p.I341V exonic ENSG00000126790 NA nonsynonymous SNV ENSG00000126790:ENST00000247194:exon5:c.A1021G:p.I341V NA NA 14q23.1 Score=724;Name=V$PPARG_02 NA NA NA rs8660 0.46 0.46 0.481 0.518371 0.4692 0.2063 0.5504 0.8253 0.453 0.45 0.19 0.51 0.76 0.4687 0.76 1 T 0.0 B 0.0 B 0.020 N 1.000 P -0.495 N 2.2 T -0.968 T 0.000 T 0.01 -2.628 0 1.76 0.146 0.571 5.517 -2.627836 NA 1 0.45907 0.759419 NA 0.565 NA 6.9363634 966 17 8132763 8132763 T C exonic CTC1 NA nonsynonymous SNV CTC1:NM_025099:exon19:c.A3013G:p.I1005V exonic ENSG00000178971 NA nonsynonymous SNV ENSG00000178971:ENST00000580299:exon3:c.A184G:p.I62V,ENSG00000178971:ENST00000315684:exon19:c.A3013G:p.I1005V,ENSG00000178971:ENST00000449476:exon19:c.A2908G:p.I970V NA NA 17p13.1 NA NA NA NA rs3826543 0.65 0.65 0.632 0.663538 0.832 0.3611 0.6311 0.7322 0.7321 0.85 0.35 0.66 0.67 0.7509 0.85 1 T 0.0 B 0.0 B 0.734 N 1.000 P 0.69 N -1.49 T -0.919 T 0.000 T 0.016 -0.793 0.695 -3.33 -0.769 -0.768 1.410 -0.792979 NA 1 0.81411 0.772889 NA 0.674 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116841.2;CLNDSDB=.;CLNDSDBID=. 6.9363234 966 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 967 20 60768615 60768615 G A exonic GTPBP5 NA nonsynonymous SNV GTPBP5:NM_015666:exon2:c.G139A:p.G47S exonic ENSG00000101181 NA nonsynonymous SNV ENSG00000101181:ENST00000370823:exon2:c.G139A:p.G47S,ENSG00000101181:ENST00000436421:exon2:c.G139A:p.G47S,ENSG00000101181:ENST00000467101:exon2:c.G139A:p.G47S,ENSG00000101181:ENST00000448254:exon3:c.G139A:p.G47S NA NA 20q13.33 NA NA NA NA rs6062133 0.09 0.09 0.091 0.0902556 0.1352 0.0228 0.0821 0.1399 0.0521 0.13 0.03 0.08 0.11 0.12 0.14 0.61 T 0.001 B 0.001 B 0.041 N 1.000 P -0.315 N 2.9 T -0.948 T 0.000 T 0.022 1.59 11.27 -0.701 -0.378 -0.049 10.698 1.590005 1.590005 0 0.143372 0.137994 NA 0.116 NA 6.9347614 967 16 10788406 10788406 G T exonic TEKT5 NA synonymous SNV TEKT5:NM_144674:exon1:c.C325A:p.R109R exonic ENSG00000153060 NA synonymous SNV ENSG00000153060:ENST00000283025:exon1:c.C325A:p.R109R Score=449;Name=lod=89 NA 16p13.13 Score=761;Name=V$PAX5_01 NA NA NA rs9922129 0.33 0.33 0.291 0.328075 0.2266 0.5407 0.4323 0.1944 0.32 0.24 0.52 0.37 0.2 0.2865 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.269488 1.269488 NA 0.218837 0.2203 NA 0.341 NA 6.9347296 967 4 74735244 74735244 A G exonic CXCL1 NA synonymous SNV CXCL1:NM_001511:exon1:c.A57G:p.A19A exonic ENSG00000163739 NA synonymous SNV ENSG00000163739:ENST00000395761:exon1:c.A57G:p.A19A NA NA 4q13.3 NA Name=CTCF,E2F6_(H-50),Pol2,TAF1,CTCFL_(SC-98982),ZBTB7A_(SC-34508) Name=64 NA rs2071425 0.34 0.34 0.26 0.377995 0.1819 0.3859 0.4265 0.5469 0.3088 0.17 0.38 0.37 0.54 0.3639 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.043649 NA NA 0.186713 0.400862 NA 0.21 NA 6.9341536 967 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=MEF2A,NFKB,CHD2_(N-1250),POU2F2,YY1,Oct-2,BATF,YY1_(C-20),MEF2C_(SC-13268) 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 967 8 146157339 146157339 T C exonic ZNF16 NA synonymous SNV ZNF16:NM_006958:exon3:c.A834G:p.S278S,ZNF16:NM_001029976:exon4:c.A834G:p.S278S exonic ENSG00000170631 NA synonymous SNV ENSG00000170631:ENST00000394909:exon3:c.A834G:p.S278S,ENSG00000170631:ENST00000276816:exon4:c.A834G:p.S278S NA NA 8q24.3 NA Name=SETDB1,KAP1 Name=16 NA rs3735787 0.24 0.24 0.231 0.22504 0.2535 0.3383 0.2104 0.1263 0.2229 0.25 0.35 0.22 0.09 0.2368 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.115468 NA NA 0.24314 0.129369 ID=COSM1178518;OCCURENCE=1(prostate) 0.225 NA 6.9332266 967 1 158549511 158549511 A G exonic OR10X1 NA nonsynonymous SNV OR10X1:NM_001004477:exon1:c.T179C:p.I60T exonic ENSG00000186400 NA nonsynonymous SNV ENSG00000186400:ENST00000368150:exon1:c.T179C:p.I60T NA NA 1q23.1 NA NA NA NA rs863363 0.55 0.55 0.544 0.518171 0.4732 0.5853 0.4164 0.6324 0.4131 0.49 0.62 0.42 0.65 0.4817 0.65 0.69 T 0.0 B 0.0 B 0.978 N 1.000 P 0.26 N 5.28 T -0.996 T 0.001 T 0.044 -1.775 0.01 3.2 0.296 -0.149 4.245 -1.774832 NA 0.45 0.445233 0.618702 NA 0.565 NA 6.9332004 967 14 52496407 52496407 C T exonic NID2 NA synonymous SNV NID2:NM_007361:exon10:c.G2259A:p.E753E exonic ENSG00000087303 NA synonymous SNV ENSG00000087303:ENST00000216286:exon10:c.G2259A:p.E753E,ENSG00000087303:ENST00000541773:exon11:c.G2100A:p.E700E NA NA 14q22.1 NA NA NA NA rs2273431 0.88 0.88 0.862 0.874002 0.9105 0.9683 0.9265 0.7035 0.9325 0.93 0.97 0.91 0.7 0.9104 0.97 . . . . . . . . 1.000 P . . . . -1.074 T 0.000 T . -0.402 2.12 -7.09 -1.835 -2.618 7.027 -0.401684 NA NA 0.912907 0.763277 NA 0.833 NA 6.9328596 967 12 88505078 88505078 T C exonic CEP290 NA synonymous SNV CEP290:NM_025114:exon22:c.A2268G:p.S756S exonic ENSG00000198707 NA synonymous SNV ENSG00000198707:ENST00000604024:exon14:c.A1527G:p.S509S,ENSG00000198707:ENST00000309041:exon22:c.A2274G:p.S758S,ENSG00000198707:ENST00000552810:exon22:c.A2268G:p.S756S Score=376;Name=lod=45 NA 12q21.32 NA Name=SMC3_(ab9263),Rad21,CTCF_(SC-5916),CTCF_(C-20),CTCF Name=128 NA rs2468255 0.8 0.8 0.752 0.764577 0.9225 0.9673 0.8804 0.3245 0.9059 0.92 0.98 0.88 0.33 0.8888 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 1.220831 NA NA 0.922642 0.432031 NA 0.717 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114186.2;CLNDSDB=.;CLNDSDBID=. 6.9327246 967 12 52984620 52984620 C T exonic KRT72 NA synonymous SNV KRT72:NM_001146225:exon6:c.G1089A:p.Q363Q,KRT72:NM_080747:exon6:c.G1089A:p.Q363Q exonic ENSG00000170486 NA synonymous SNV ENSG00000170486:ENST00000293745:exon6:c.G1089A:p.Q363Q,ENSG00000170486:ENST00000537672:exon6:c.G1089A:p.Q363Q,ENSG00000170486:ENST00000398066:exon7:c.G525A:p.Q175Q Score=446;Name=lod=87 NA 12q13.13 Score=756;Name=V$TCF11MAFG_01 NA NA NA rs12818575 0.15 0.15 0.139 0.177915 0.2416 0.0655 0.1527 0.0968 0.3558 0.26 0.07 0.14 0.11 0.2371 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.415624 2.415624 NA 0.255698 0.138675 NA 0.138 NA 6.9322686 967 10 34408636 34408636 T C exonic PARD3 NA synonymous SNV PARD3:NM_001184791:exon20:c.A3246G:p.R1082R,PARD3:NM_001184789:exon22:c.A3333G:p.R1111R,PARD3:NM_001184790:exon22:c.A3312G:p.R1104R,PARD3:NM_001184786:exon23:c.A3534G:p.R1178R,PARD3:NM_001184787:exon23:c.A3471G:p.R1157R,PARD3:NM_001184788:exon23:c.A3444G:p.R1148R,PARD3:NM_001184785:exon24:c.A3573G:p.R1191R,PARD3:NM_019619:exon24:c.A3582G:p.R1194R exonic ENSG00000148498 NA synonymous SNV ENSG00000148498:ENST00000374794:exon20:c.A3246G:p.R1082R,ENSG00000148498:ENST00000374790:exon22:c.A3402G:p.R1134R,ENSG00000148498:ENST00000545260:exon22:c.A3312G:p.R1104R,ENSG00000148498:ENST00000346874:exon23:c.A3471G:p.R1157R,ENSG00000148498:ENST00000350537:exon23:c.A3444G:p.R1148R,ENSG00000148498:ENST00000545693:exon23:c.A3534G:p.R1178R,ENSG00000148498:ENST00000374788:exon24:c.A3573G:p.R1191R,ENSG00000148498:ENST00000374789:exon24:c.A3582G:p.R1194R Score=395;Name=lod=54 NA 10p11.21 NA Name=CTCF NA NA rs11009651 0.2 0.2 0.19 0.194688 0.2495 0.003 0.1945 0.3563 0.1176 0.24 0.0035 0.23 0.34 0.2279 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.896894 NA NA 0.257216 0.31463 ID=COSM427520;OCCURENCE=1(breast) 0.217 NA 6.9320506 967 17 74733099 74733099 G A exonic SRSF2 NA synonymous SNV SRSF2:NM_001195427:exon1:c.C144T:p.D48D,SRSF2:NM_003016:exon1:c.C144T:p.D48D exonic ENSG00000161547 NA synonymous SNV ENSG00000161547:ENST00000358156:exon1:c.C144T:p.D48D,ENSG00000161547:ENST00000359995:exon1:c.C144T:p.D48D,ENSG00000161547:ENST00000392485:exon1:c.C144T:p.D48D,ENSG00000161547:ENST00000452355:exon1:c.C144T:p.D48D,ENSG00000161547:ENST00000508921:exon1:c.C144T:p.D48D,ENSG00000161547:ENST00000583836:exon1:c.C144T:p.D48D,ENSG00000161547:ENST00000585202:exon1:c.C144T:p.D48D Score=612;Name=lod=408 NA 17q25.1 Score=685;Name=V$BRACH_01 Name=Pol2,HEY1,Pol2-4H8 Name=12 NA rs237057 0.82 0.82 0.813 0.785543 0.9145 0.9157 0.9049 0.4213 0.9264 0.91 0.94 0.91 0.46 0.8886 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 2.250779 2.250779 NA 0.932426 0.532273 NA 0.667 NA 6.9311406 967 5 5146335 5146335 C G exonic ADAMTS16 NA nonsynonymous SNV ADAMTS16:NM_139056:exon3:c.C268G:p.P90A exonic ENSG00000145536 NA nonsynonymous SNV ENSG00000145536:ENST00000274181:exon3:c.C268G:p.P90A,ENSG00000145536:ENST00000511368:exon3:c.C268G:p.P90A NA NA 5p15.32 NA Name=Pol2-4H8,JunD,STAT3 Name=56 NA rs2086310 0.69 0.69 0.662 0.695487 0.8111 0.498 0.8674 0.5696 0.8282 0.79 0.51 0.86 0.61 0.776 0.86 0.85 T 0.0 B 0.0 B 0.074 N 1.000 P -1.32 N 3.39 T -1.058 T 0.000 T 0.018 -2.59 0 -0.853 -0.320 -0.242 2.156 -2.590313 NA 1 0.815544 0.643523 NA 0.768 NA 6.9306894 967 13 21735998 21735998 T C exonic SKA3 NA nonsynonymous SNV SKA3:NM_001166017:exon5:c.A760G:p.T254A,SKA3:NM_145061:exon5:c.A760G:p.T254A exonic ENSG00000165480 NA nonsynonymous SNV ENSG00000165480:ENST00000314759:exon5:c.A760G:p.T254A,ENSG00000165480:ENST00000400018:exon5:c.A760G:p.T254A NA NA 13q12.11 NA NA NA NA rs17345690 0.11 0.11 0.094 0.0980431 0.1362 0.0972 0.0735 0.0666 0.1196 0.15 0.1 0.08 0.09 0.1288 0.15 1 T 0.047 B 0.02 B 0.514 N 1.000 P 1.78 L 1.93 T -0.994 T 0.000 T 0.01 1.523 11.04 1.32 0.436 0.091 1.491 1.52328 1.52328 0.27 0.137674 0.077848 ID=COSM147641;OCCURENCE=1(stomach) 0.167 NA 6.9306594 967 10 127462525 127462525 A G exonic MMP21 NA nonsynonymous SNV MMP21:NM_147191:exon2:c.T572C:p.V191A exonic ENSG00000154485 NA nonsynonymous SNV ENSG00000154485:ENST00000368808:exon2:c.T572C:p.V191A NA NA 10q26.13 NA NA NA NA rs10901425 0.74 0.74 0.752 0.738818 0.8091 0.7619 0.6282 0.6974 0.7771 0.81 0.73 0.65 0.69 0.7766 0.82 0.64 T 0.0 B 0.002 B 0.404 N 1.000 P -0.16 N 2.16 T -0.979 T 0.000 T 0.007 -0.73 0.876 -9.23 -2.109 0.696 0.759 -0.730367 NA 0.93 0.817101 0.737614 NA 0.341 NA 6.9305324 967 3 170893070 170893070 G A exonic TNIK NA synonymous SNV TNIK:NM_001161560:exon9:c.C744T:p.N248N,TNIK:NM_001161561:exon9:c.C744T:p.N248N,TNIK:NM_001161562:exon9:c.C744T:p.N248N,TNIK:NM_001161563:exon9:c.C744T:p.N248N,TNIK:NM_001161564:exon9:c.C744T:p.N248N,TNIK:NM_001161565:exon9:c.C744T:p.N248N,TNIK:NM_001161566:exon9:c.C744T:p.N248N,TNIK:NM_015028:exon9:c.C744T:p.N248N exonic ENSG00000154310 NA synonymous SNV ENSG00000154310:ENST00000468757:exon7:c.C666T:p.N222N,ENSG00000154310:ENST00000284483:exon9:c.C744T:p.N248N,ENSG00000154310:ENST00000341852:exon9:c.C744T:p.N248N,ENSG00000154310:ENST00000357327:exon9:c.C744T:p.N248N,ENSG00000154310:ENST00000369326:exon9:c.C744T:p.N248N,ENSG00000154310:ENST00000436636:exon9:c.C744T:p.N248N,ENSG00000154310:ENST00000460047:exon9:c.C744T:p.N248N,ENSG00000154310:ENST00000470834:exon9:c.C744T:p.N248N,ENSG00000154310:ENST00000475336:exon9:c.C744T:p.N248N,ENSG00000154310:ENST00000488470:exon9:c.C744T:p.N248N,ENSG00000154310:ENST00000538048:exon9:c.C744T:p.N248N Score=612;Name=lod=408 NA 3q26.2 Score=845;Name=V$COUP_01 NA Name=2 NA rs12637875 0.6 0.6 0.559 0.56889 0.5815 0.874 0.5994 0.2655 0.6299 0.59 0.86 0.6 0.3 0.5853 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 1.16865 NA NA 0.569337 0.297389 NA 0.478 NA 6.9305296 967 11 63487386 63487386 T C exonic RTN3 NA nonsynonymous SNV RTN3:NM_001265590:exon2:c.T1076C:p.V359A,RTN3:NM_201428:exon2:c.T1355C:p.V452A,RTN3:NM_001265589:exon3:c.T1412C:p.V471A exonic ENSG00000133318 NA nonsynonymous SNV ENSG00000133318:ENST00000339997:exon2:c.T1355C:p.V452A,ENSG00000133318:ENST00000540798:exon2:c.T1076C:p.V359A,ENSG00000133318:ENST00000377819:exon3:c.T1412C:p.V471A NA NA 11q13.1 NA Name=ZNF263 NA NA rs542998 0.78 0.78 0.743 0.737021 0.8082 0.9921 0.879 0.4221 0.726 0.81 0.99 0.87 0.45 0.7936 0.99 0.26 T 0.004 B 0.006 B 0.146 N 0.931 P 0.205 N 2.36 T -1.012 T 0.000 T 0.019 -0.762 0.783 -2.94 -0.490 -0.075 2.654 -0.761748 NA 0.24 0.801652 0.479782 NA 0.754 NA 6.9298814 967 8 105367121 105367121 A G exonic DCSTAMP NA nonsynonymous SNV DCSTAMP:NM_030788:exon3:c.A1046G:p.D349G exonic ENSG00000164935 NA nonsynonymous SNV ENSG00000164935:ENST00000297581:exon3:c.A1046G:p.D349G NA NA 8q22.3 NA NA NA NA rs3802204 0.12 0.12 0.09 0.118411 0.1342 0.1319 0.1931 0.0605 0.1135 0.13 0.1 0.2 0.07 0.134 0.2 0.34 T 0.0 B 0.003 B 0.468 N 1.000 P 0.85 L 1.54 T -0.990 T 0.000 T 0.059 -0.757 0.797 0.324 -0.103 -0.029 4.198 -0.756924 NA 0.55 0.13593 0.080118 NA 0.13 NA 6.9292034 967 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 967 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 967 1 24134721 24134721 T C exonic HMGCL NA synonymous SNV HMGCL:NM_001166059:exon5:c.A441G:p.L147L,HMGCL:NM_000191:exon7:c.A654G:p.L218L exonic ENSG00000117305 NA synonymous SNV ENSG00000117305:ENST00000436439:exon5:c.A441G:p.L147L,ENSG00000117305:ENST00000374490:exon7:c.A654G:p.L218L,ENSG00000117305:ENST00000374483:exon8:c.A579G:p.L193L Score=450;Name=lod=90 NA 1p36.11 NA NA NA NA rs719400 0.9 0.9 0.895 0.88738 0.9254 0.7817 0.8876 0.9728 0.8415 0.92 0.8 0.91 0.96 0.9042 0.96 . . . . . . . . 0.000 P . . . . -1.024 T 0.000 T . 0.961 8.919 4.74 0.768 0.873 7.968 0.960563 NA NA 0.908488 0.960962 NA 0.942 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000078343.1|RCV000125367.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.9285786 967 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 967 11 428489 428489 T C exonic ANO9 NA nonsynonymous SNV ANO9:NM_001012302:exon13:c.A1171G:p.I391V exonic ENSG00000185101 NA nonsynonymous SNV ENSG00000185101:ENST00000332826:exon13:c.A1171G:p.I391V NA NA 11p15.5 NA NA NA NA rs10794324 0.89 0.89 0.902 0.91893 0.8161 0.997 0.7478 0.9917 0.9673 0.81 1 0.75 0.98 0.8208 1 0.26 T 0.0 B 0.002 B 0.040 N 1.000 P -0.67 N 0.0 T -0.964 T 0.000 T 0.023 -1.877 0.008 -3.98 -1.872 -0.217 2.877 -1.87749 NA 0.37 0.76829 0.955869 NA 0.928 NA 6.9281434 967 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 967 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 967 1 209936914 209936914 C T exonic TRAF3IP3 NA synonymous SNV TRAF3IP3:NM_025228:exon8:c.C684T:p.A228A exonic ENSG00000009790 NA synonymous SNV ENSG00000009790:ENST00000010338:exon6:c.C624T:p.A208A,ENSG00000009790:ENST00000367024:exon8:c.C684T:p.A228A,ENSG00000009790:ENST00000367025:exon8:c.C684T:p.A228A,ENSG00000009790:ENST00000367026:exon8:c.C624T:p.A208A,ENSG00000009790:ENST00000400959:exon8:c.C624T:p.A208A,ENSG00000009790:ENST00000478359:exon8:c.C684T:p.A228A Score=431;Name=lod=75 NA 1q32.2 Score=967;Name=V$TGIF_01 NA NA NA rs17015169 0.34 0.34 0.36 0.380591 0.2306 0.3075 0.2752 0.6906 0.2658 0.24 0.3 0.24 0.64 0.2878 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.092008 NA NA 0.22093 0.638901 NA 0.449 NA 6.9273366 967 16 81151123 81151123 C G exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN Score=429;Name=lod=74 NA 16q23.2 Score=787;Name=V$HTF_01 NA NA NA rs189163196 0.02 0.02 NA 0.0117812 0.0427 NA 0.013 0.0008 0.0061 0.04 NA 0.02 0.002 0.0298 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 0.097022 NA 0.01 0.000483 0 ID=COSN229014;OCCURENCE=1(skin) NA NA 6.927017 967 5 26988328 26988328 G A exonic CDH9 NA nonsynonymous SNV CDH9:NM_016279:exon2:c.C113T:p.A38V exonic ENSG00000113100 NA nonsynonymous SNV ENSG00000113100:ENST00000231021:exon2:c.C113T:p.A38V,ENSG00000113100:ENST00000513289:exon2:c.C113T:p.A38V,ENSG00000113100:ENST00000511822:exon3:c.C113T:p.A38V NA NA 5p14.1 NA NA NA NA rs2288466 0.41 0.41 0.422 0.38139 0.4712 0.1508 0.2666 0.6936 0.1861 0.48 0.17 0.31 0.66 0.435 0.69 . . 0.001 B 0.001 B 0.717 N 1.000 P -0.345 N 1.94 T -0.922 T 0.000 T 0.339 -0.205 3.005 3.28 0.109 0.479 8.432 -0.205196 NA 0.29 0.500581 0.685202 NA 0.457 NA 6.9265524 967 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 968 11 68701948 68701948 C T exonic IGHMBP2 NA synonymous SNV IGHMBP2:NM_002180:exon11:c.C1554T:p.V518V exonic ENSG00000132740 NA synonymous SNV ENSG00000132740:ENST00000255078:exon11:c.C1554T:p.V518V NA NA 11q13.3 Score=882;Name=V$ATF6_01 Name=CTCF NA NA rs11228413 0.17 0.17 0.166 0.132788 0.2644 0.0208 0.1902 0.1483 0.0511 0.26 0.02 0.21 0.16 0.2299 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.747445 NA NA 0.247671 0.173864 ID=COSM429749;OCCURENCE=1(breast),1(prostate) 0.304 NA 6.9246956 968 3 127642814 127642814 G C exonic KBTBD12 NA nonsynonymous SNV KBTBD12:NM_207335:exon1:c.G910C:p.V304L exonic ENSG00000187715 NA nonsynonymous SNV ENSG00000187715:ENST00000405256:exon1:c.G910C:p.V304L,ENSG00000187715:ENST00000405109:exon2:c.G910C:p.V304L NA NA 3q21.3 NA NA NA NA rs61268888 0.16 0.16 0.165 0.191094 0.1233 0.2331 0.085 0.1664 0.3262 0.13 0.21 0.1 0.18 0.1573 0.21 0.24 T 0.0 B 0.0 B . . 1.000 P 0.205 N -0.19 T -1.069 T 0.000 T 0.026 -0.282 2.653 -1.1 0.062 0.528 2.481 -0.281515 NA 0.48 0.128193 0.16901 NA 0.13 NA 6.9245404 968 17 18219835 18219835 T C exonic SMCR8 NA synonymous SNV SMCR8:NM_144775:exon1:c.T732C:p.I244I exonic ENSG00000176994 NA synonymous SNV ENSG00000176994:ENST00000406438:exon1:c.T732C:p.I244I Score=544;Name=lod=216 NA 17p11.2 Score=863;Name=V$YY1_01 NA NA NA rs3829956 0.24 0.24 0.23 0.214856 0.2435 0.3185 0.2421 0.1452 0.1534 0.26 0.29 0.24 0.16 0.2437 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45495 NA NA 0.255349 0.155243 NA 0.246 NA 6.9241176 968 17 26708300 26708300 T C exonic SARM1 NA synonymous SNV SARM1:NM_015077:exon3:c.T546C:p.S182S exonic ENSG00000004139,ENSG00000244045 NA nonsynonymous SNV ENSG00000244045:ENST00000509083:exon6:c.T610C:p.W204R Score=343;Name=lod=33 NA 17q11.2 NA NA NA NA rs71373645 NA NA NA 1 1 1 1 1 1 NA NA NA NA 0.0769 NA 0.96 T 0.0 B 0.0 B . . 0.000 P . . 1.0 T -0.934 T 0.044 T . 1.619 11.37 -0.523 -0.632 -0.381 10.018 1.618945 1.618945 0.04 NA NA NA NA NA 6.9231 968 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 968 14 31425437 31425437 T C exonic STRN3 NA synonymous SNV STRN3:NM_001083893:exon2:c.A294G:p.A98A,STRN3:NM_014574:exon2:c.A294G:p.A98A exonic ENSG00000196792 NA synonymous SNV ENSG00000196792:ENST00000355683:exon2:c.A294G:p.A98A,ENSG00000196792:ENST00000357479:exon2:c.A294G:p.A98A,ENSG00000196792:ENST00000555358:exon2:c.A294G:p.A98A Score=688;Name=lod=835 NA 14q12 Score=874;Name=V$CHOP_01 NA NA NA rs12886419 0.18 0.18 0.171 0.171526 0.2704 0.003 0.17 0.2526 0.135 0.26 0.0017 0.2 0.25 0.2125 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.244927 1.244927 NA 0.26134 0.248071 NA 0.196 NA 6.9224266 968 1 60466814 60466814 T C exonic C1orf87 NA nonsynonymous SNV C1orf87:NM_152377:exon10:c.A1207G:p.K403E exonic ENSG00000162598 NA nonsynonymous SNV ENSG00000162598:ENST00000395552:exon2:c.A109G:p.K37E,ENSG00000162598:ENST00000450089:exon6:c.A520G:p.K174E,ENSG00000162598:ENST00000371201:exon10:c.A1207G:p.K403E NA NA 1p32.1 NA NA NA NA rs626251 0.58 0.58 0.571 0.551118 0.4483 0.628 0.6167 0.6135 0.4468 0.46 0.65 0.63 0.63 0.5038 0.65 0.86 T 0.0 B 0.0 B 0.161 N 1.000 P -0.255 N 2.43 T -0.951 T 0.000 T 0.197 -0.018 3.92 2.19 0.400 0.351 6.824 -0.018223 NA 1 0.46 0.602814 NA 0.543 NA 6.9212334 968 12 2791130 2791130 C T exonic CACNA1C NA nonsynonymous SNV CACNA1C:NM_001129830:exon43:c.C5459T:p.P1820L,CACNA1C:NM_001167624:exon43:c.C5459T:p.P1820L,CACNA1C:NM_199460:exon45:c.C5603T:p.P1868L exonic ENSG00000151067 NA nonsynonymous SNV ENSG00000151067:ENST00000327702:exon43:c.C5459T:p.P1820L,ENSG00000151067:ENST00000399617:exon43:c.C5459T:p.P1820L NA NA 12p13.33 NA NA NA NA rs10848683 0.66 0.66 0.613 0.669129 0.8191 0.5744 0.7248 0.4622 0.8528 0.82 0.61 0.75 0.42 0.7722 0.82 0.22 T 0.002 B 0.0 B . . 1.000 P 1.87 L -3.54 D -0.945 T 0.000 T 0.042 0.377 6.045 1.64 0.051 -1.323 2.422 0.376619 NA 0.17 0.821329 0.504145 ID=COSM1582947,COSM1582946;OCCURENCE=1(meninges) NA NA 6.9207044 968 22 50584201 50584201 A C exonic MOV10L1 NA synonymous SNV MOV10L1:NM_001164104:exon19:c.A2589C:p.T863T,MOV10L1:NM_001164105:exon19:c.A2529C:p.T843T,MOV10L1:NM_018995:exon19:c.A2589C:p.T863T exonic ENSG00000073146 NA synonymous SNV ENSG00000073146:ENST00000262794:exon19:c.A2589C:p.T863T,ENSG00000073146:ENST00000395858:exon19:c.A2589C:p.T863T,ENSG00000073146:ENST00000540615:exon19:c.A2529C:p.T843T,ENSG00000073146:ENST00000545383:exon20:c.A2589C:p.T863T NA NA 22q13.33 NA Name=GATA-2,ELF1_(SC-631),HNF4A,HNF4G_(SC-6558),SP1,RXRA,HNF4A_(H-171) Name=11 NA rs2272838 0.25 0.25 0.202 0.25 0.2376 0.252 0.3934 0.1233 0.3303 0.23 0.32 0.36 0.11 0.2665 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.314077 NA NA 0.241977 0.153427 ID=COSM149322;OCCURENCE=1(stomach) 0.181 NA 6.9205896 968 1 161683136 161683136 G A exonic FCRLA NA nonsynonymous SNV FCRLA:NM_001184871:exon2:c.G392A:p.R131Q,FCRLA:NM_001184872:exon3:c.G677A:p.R226Q,FCRLA:NM_001184873:exon3:c.G545A:p.R182Q,FCRLA:NM_001184867:exon4:c.G830A:p.R277Q,FCRLA:NM_001184870:exon4:c.G695A:p.R232Q,FCRLA:NM_032738:exon5:c.G1097A:p.R366Q,FCRLA:NM_001184866:exon6:c.G1115A:p.R372Q exonic ENSG00000132185 NA nonsynonymous SNV ENSG00000132185:ENST00000350710:exon2:c.G392A:p.R131Q,ENSG00000132185:ENST00000367949:exon3:c.G545A:p.R182Q,ENSG00000132185:ENST00000367950:exon3:c.G425A:p.R142Q,ENSG00000132185:ENST00000367957:exon3:c.G677A:p.R226Q,ENSG00000132185:ENST00000294796:exon4:c.G644A:p.R215Q,ENSG00000132185:ENST00000309691:exon4:c.G779A:p.R260Q,ENSG00000132185:ENST00000349527:exon4:c.G761A:p.R254Q,ENSG00000132185:ENST00000540521:exon4:c.G695A:p.R232Q,ENSG00000132185:ENST00000546024:exon4:c.G830A:p.R277Q,ENSG00000132185:ENST00000236938:exon5:c.G1097A:p.R366Q,ENSG00000132185:ENST00000367953:exon6:c.G1064A:p.R355Q,ENSG00000132185:ENST00000367959:exon6:c.G1115A:p.R372Q,ENSG00000132185:ENST00000540926:exon6:c.G1064A:p.R355Q NA NA 1q23.3 NA NA NA NA rs11746 0.32 0.32 0.301 0.297125 0.5129 0.2371 0.3444 0.0469 0.4417 0.5 0.26 0.37 0.05 0.4183 0.5 0.34 T 0.121 B 0.014 B 0.838 N 1.000 P 0.345 N 0.91 T -1.012 T 0.018 T 0.067 0.419 6.278 -3.37 -0.846 -0.770 7.078 0.419487 NA 0.27 0.48186 0.120971 ID=COSM146669;OCCURENCE=1(stomach) 0.362 NA 6.9202734 968 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 968 7 5540769 5540769 A C exonic FBXL18 NA synonymous SNV FBXL18:NM_024963:exon3:c.T1131G:p.T377T exonic ENSG00000155034 NA synonymous SNV ENSG00000155034:ENST00000382368:exon3:c.T1131G:p.T377T,ENSG00000155034:ENST00000415009:exon3:c.T1131G:p.T377T,ENSG00000155034:ENST00000453700:exon3:c.T1131G:p.T377T NA NA 7p22.1 NA NA NA NA rs6953642 0.94 0.94 0.933 0.94389 0.9314 0.9256 0.8977 0.9962 0.9376 0.93 0.94 0.86 0.99 0.9119 0.99 . . . . . . . . 0.726 P . . . . -1.039 T 0.000 T . 0.39 6.12 -5.45 -1.552 -1.933 2.586 0.390396 NA NA 0.904185 0.976113 NA 0.152 NA 6.9191816 968 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$MYOD_01 NA NA NA rs12450838 0.24 0.24 0.193 0.2498 0.3469 0.1151 0.4669 0.0794 0.365 0.35 0.1 0.44 0.09 0.3636 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.699804 NA NA 0.37093 0.116432 NA 0.261 NA 6.91857 968 1 157668390 157668390 T C exonic FCRL3 NA nonsynonymous SNV FCRL3:NM_052939:exon4:c.A82G:p.N28D exonic ENSG00000160856 NA nonsynonymous SNV ENSG00000160856:ENST00000368184:exon4:c.A82G:p.N28D,ENSG00000160856:ENST00000368186:exon4:c.A82G:p.N28D,ENSG00000160856:ENST00000477837:exon4:c.A82G:p.N28D,ENSG00000160856:ENST00000485028:exon4:c.A82G:p.N28D,ENSG00000160856:ENST00000492769:exon4:c.A82G:p.N28D,ENSG00000160856:ENST00000496769:exon4:c.A82G:p.N28D NA NA 1q23.1 NA NA NA NA rs7522061 0.51 0.51 0.504 0.470647 0.5 0.4345 0.4539 0.6203 0.2873 0.49 0.42 0.51 0.66 0.4503 0.66 0.66 T 0.0 B 0.002 B 0.268 N 1.000 P 0.515 N 2.73 T -0.983 T 0.004 T 0.013 -0.197 3.044 -10.7 -2.887 -0.482 10.548 -0.196801 NA 0.36 0.464535 0.628007 NA 0.493 NA 6.9184984 968 12 4737715 4737715 C T exonic AKAP3 NA nonsynonymous SNV AKAP3:NM_006422:exon4:c.G353A:p.G118E exonic ENSG00000111254 NA nonsynonymous SNV ENSG00000111254:ENST00000540967:exon3:c.G353A:p.G118E,ENSG00000111254:ENST00000228850:exon4:c.G353A:p.G118E,ENSG00000111254:ENST00000545990:exon5:c.G353A:p.G118E NA NA 12p13.32 NA NA Name=4 NA rs2072355 0.73 0.73 0.692 0.705471 0.832 0.6538 0.8256 0.587 0.7035 0.84 0.63 0.81 0.61 0.775 0.84 1 T 0.0 B 0.001 B 0.400 N 1.000 P 1.265 L 3.42 T -0.932 T 0.000 T 0.33 -1.134 0.115 -3.33 -0.654 -0.299 6.038 -1.133777 NA 1 0.808837 0.599637 NA 0.783 NA 6.9174964 968 9 139391636 139391636 G A exonic NOTCH1 NA synonymous SNV NOTCH1:NM_017617:exon34:c.C6555T:p.D2185D exonic ENSG00000148400 NA synonymous SNV ENSG00000148400:ENST00000277541:exon34:c.C6555T:p.D2185D Score=513;Name=lod=162 NA 9q34.3 Score=774;Name=V$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 968 17 61562309 61562309 C T exonic ACE NA synonymous SNV ACE:NM_001178057:exon1:c.C81T:p.P27P,ACE:NM_152830:exon1:c.C81T:p.P27P exonic ENSG00000159640,ENSG00000264813 NA stopgain ENSG00000159640:ENST00000578839:exon1:c.C103T:p.Q35X NA NA 17q23.3 NA Name=c-Myc,Rad21,CTCF_(SC-5916),CTCF Name=21 NA rs4316 0.51 0.51 0.459 0.519169 0.4245 0.6746 0.562 0.3752 0.6207 0.43 0.68 0.54 0.39 0.5435 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.165663 NA NA 0.448341 0.383781 ID=COSM437110;OCCURENCE=1(breast) 0.522 NA 6.9169923 968 15 90768320 90768320 C T exonic SEMA4B NA synonymous SNV SEMA4B:NM_198925:exon10:c.C1315T:p.L439L,SEMA4B:NM_020210:exon11:c.C1315T:p.L439L exonic ENSG00000185033 NA synonymous SNV ENSG00000185033:ENST00000411539:exon10:c.C1315T:p.L439L,ENSG00000185033:ENST00000332496:exon11:c.C1315T:p.L439L,ENSG00000185033:ENST00000379122:exon11:c.C1300T:p.L434L Score=405;Name=lod=59 NA 15q26.1 NA Name=GR NA NA rs11073918 0.25 0.25 0.211 0.261182 0.2584 0.37 0.317 0.0802 0.3569 0.25 0.35 0.29 0.11 0.2612 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122126 NA NA 0.230153 0.117195 NA 0.109 NA 6.9169136 968 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 968 1 172437592 172437592 G A exonic C1orf105 NA nonsynonymous SNV C1orf105:NM_139240:exon7:c.G410A:p.S137N exonic ENSG00000180999 NA nonsynonymous SNV ENSG00000180999:ENST00000367725:exon5:c.G380A:p.S127N,ENSG00000180999:ENST00000367727:exon7:c.G410A:p.S137N Score=389;Name=lod=51 NA 1q24.3 NA NA Name=4 NA rs1129942 0.85 0.85 0.846 0.841254 0.8072 1 0.8516 0.671 0.9356 0.8 1 0.86 0.73 0.8251 1 0.12 T 0.04 B 0.027 B 0.001 N 0.000 P 0.895 L 0.91 T -1.073 T 0.029 T 0.038 0.623 7.351 1.08 0.258 -0.323 6.607 0.622837 NA 0.19 0.784884 0.708125 NA 0.797 NA 6.9161494 968 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 969 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 969 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 969 19 50771609 50771609 G A exonic MYH14 NA synonymous SNV MYH14:NM_024729:exon22:c.G2895A:p.L965L,MYH14:NM_001077186:exon23:c.G2919A:p.L973L,MYH14:NM_001145809:exon24:c.G3018A:p.L1006L exonic ENSG00000105357 NA synonymous SNV ENSG00000105357:ENST00000596571:exon21:c.G2895A:p.L965L,ENSG00000105357:ENST00000262269:exon23:c.G3018A:p.L1006L,ENSG00000105357:ENST00000376970:exon23:c.G2994A:p.L998L,ENSG00000105357:ENST00000425460:exon23:c.G2919A:p.L973L,ENSG00000105357:ENST00000598205:exon23:c.G2919A:p.L973L,ENSG00000105357:ENST00000599920:exon23:c.G2919A:p.L973L,ENSG00000105357:ENST00000440075:exon24:c.G3018A:p.L1006L,ENSG00000105357:ENST00000601313:exon24:c.G3018A:p.L1006L Score=511;Name=lod=159 NA 19q13.33 NA Name=Egr-1 NA NA rs3745504 0.52 0.52 0.486 0.484425 0.5905 0.3829 0.6873 0.4221 0.4202 0.6 0.41 0.66 0.45 0.598 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 1.012455 NA NA 0.565115 0.464218 NA 0.507 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037038.1;CLNDSDB=.;CLNDSDBID=. 6.9130516 969 9 130504070 130504070 G A exonic SH2D3C NA synonymous SNV SH2D3C:NM_001142533:exon7:c.C1611T:p.A537A,SH2D3C:NM_001142534:exon7:c.C1605T:p.A535A,SH2D3C:NM_001142531:exon8:c.C1023T:p.A341A,SH2D3C:NM_001142532:exon8:c.C1023T:p.A341A,SH2D3C:NM_005489:exon8:c.C1614T:p.A538A,SH2D3C:NM_001252334:exon9:c.C1881T:p.A627A,SH2D3C:NM_170600:exon9:c.C2085T:p.A695A exonic ENSG00000095370 NA synonymous SNV ENSG00000095370:ENST00000373274:exon7:c.C1605T:p.A535A,ENSG00000095370:ENST00000420366:exon7:c.C1611T:p.A537A,ENSG00000095370:ENST00000373276:exon8:c.C1881T:p.A627A,ENSG00000095370:ENST00000373277:exon8:c.C1614T:p.A538A,ENSG00000095370:ENST00000429553:exon8:c.C1023T:p.A341A,ENSG00000095370:ENST00000314830:exon9:c.C2085T:p.A695A Score=534;Name=lod=198 Name=Eating disorders (purging via substances) 9q34.11 Score=786;Name=V$YY1_02 NA NA NA rs514024 0.52 0.52 0.508 0.531749 0.6103 0.2847 0.5764 0.5711 0.6207 0.62 0.28 0.59 0.58 0.5681 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.417397 1.417397 NA 0.575233 0.576487 ID=COSM1489681,COSM455376;OCCURENCE=1(breast) 0.529 NA 6.9130336 969 14 74766352 74766352 A G exonic ABCD4 NA synonymous SNV ABCD4:NM_005050:exon3:c.T184C:p.L62L exonic ENSG00000119688 NA nonsynonymous SNV ENSG00000119688:ENST00000469672:exon2:c.T65C:p.L22P,ENSG00000119688:ENST00000553745:exon2:c.T65C:p.L22P,ENSG00000119688:ENST00000555617:exon2:c.T65C:p.L22P,ENSG00000119688:ENST00000556119:exon2:c.T65C:p.L22P Score=528;Name=lod=186 NA 14q24.3 Score=880;Name=V$NF1_Q6 NA NA NA rs2301345 0.26 0.26 0.252 0.26258 0.3857 0.247 0.2695 0.1195 0.3405 0.37 0.24 0.29 0.11 0.3385 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.741057 1.741057 NA 0.36314 0.173854 NA 0.275 NA 6.91266 969 1 38187447 38187447 A G exonic EPHA10 NA synonymous SNV EPHA10:NM_001099439:exon11:c.T2031C:p.H677H exonic ENSG00000183317 NA synonymous SNV ENSG00000183317:ENST00000534097:exon5:c.T531C:p.H177H,ENSG00000183317:ENST00000330210:exon7:c.T516C:p.H172H,ENSG00000183317:ENST00000373048:exon11:c.T2031C:p.H677H,ENSG00000183317:ENST00000427468:exon11:c.T2031C:p.H677H Score=446;Name=lod=87 NA 1p34.3 NA NA Name=5 NA rs579908 0.19 0.19 0.197 0.188698 0.2634 0.0288 0.1556 0.3048 0.1431 0.25 0.02 0.18 0.3 0.2288 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.293785 NA NA 0.261831 0.294046 NA 0.246 NA 6.9126356 969 10 47087680 47087680 C T exonic NPY4R NA synonymous SNV NPY4R:NM_005972:exon3:c.C897T:p.H299H exonic ENSG00000204174 NA synonymous SNV ENSG00000204174:ENST00000395716:exon2:c.C897T:p.H299H,ENSG00000204174:ENST00000374312:exon3:c.C897T:p.H299H Score=521;Name=lod=174 NA 10q11.22 Score=888;Name=V$RFX1_02 NA NA NA rs1048157 0.83 0.83 0.856 NA NA NA NA NA NA 0.73 0.99 0.82 0.82 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 0.455496 NA NA NA NA NA 0.754 NA 6.9124666 969 1 246707858 246707858 A G exonic TFB2M NA synonymous SNV TFB2M:NM_022366:exon7:c.T984C:p.F328F exonic ENSG00000162851 NA synonymous SNV ENSG00000162851:ENST00000366514:exon7:c.T984C:p.F328F Score=397;Name=lod=55 NA 1q44 Score=960;Name=V$LYF1_01 NA NA NA rs3129568 0.18 0.18 0.139 0.153155 0.2803 0.003 0.219 0.1732 0.1033 0.28 0.0017 0.26 0.17 0.2068 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050961 NA NA 0.268256 0.187018 NA 0.109 NA 6.9113106 969 12 102069077 102069077 A G exonic MYBPC1 NA synonymous SNV MYBPC1:NM_001254722:exon22:c.A2664G:p.P888P,MYBPC1:NM_001254720:exon23:c.A2706G:p.P902P,MYBPC1:NM_001254721:exon23:c.A2685G:p.P895P,MYBPC1:NM_001254723:exon23:c.A2703G:p.P901P,MYBPC1:NM_001254719:exon24:c.A2742G:p.P914P,MYBPC1:NM_206821:exon24:c.A2742G:p.P914P,MYBPC1:NM_001254718:exon25:c.A2796G:p.P932P,MYBPC1:NM_206820:exon25:c.A2796G:p.P932P,MYBPC1:NM_002465:exon26:c.A2817G:p.P939P,MYBPC1:NM_206819:exon26:c.A2817G:p.P939P exonic ENSG00000196091 NA synonymous SNV ENSG00000196091:ENST00000547405:exon22:c.A2664G:p.P888P,ENSG00000196091:ENST00000392934:exon23:c.A2703G:p.P901P,ENSG00000196091:ENST00000536007:exon23:c.A2685G:p.P895P,ENSG00000196091:ENST00000541119:exon23:c.A2706G:p.P902P,ENSG00000196091:ENST00000547509:exon23:c.A2700G:p.P900P,ENSG00000196091:ENST00000545503:exon24:c.A2742G:p.P914P,ENSG00000196091:ENST00000553190:exon24:c.A2742G:p.P914P,ENSG00000196091:ENST00000360610:exon25:c.A2796G:p.P932P,ENSG00000196091:ENST00000441232:exon25:c.A2796G:p.P932P,ENSG00000196091:ENST00000452455:exon25:c.A2796G:p.P932P,ENSG00000196091:ENST00000550270:exon25:c.A2796G:p.P932P,ENSG00000196091:ENST00000361466:exon26:c.A2817G:p.P939P,ENSG00000196091:ENST00000361685:exon26:c.A2817G:p.P939P,ENSG00000196091:ENST00000549145:exon26:c.A2835G:p.P945P,ENSG00000196091:ENST00000551300:exon27:c.A2445G:p.P815P NA NA 12q23.2 Score=937;Name=V$PAX4_03 NA NA NA rs764291 0.15 0.15 0.134 0.14357 0.2525 0.1091 0.1297 0.0416 0.2147 0.25 0.09 0.12 0.07 0.2217 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.165534 NA NA 0.282326 0.082388 NA 0.188 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117657.1;CLNDSDB=.;CLNDSDBID=. 6.9101406 969 1 183542387 183542387 T C exonic NCF2 NA nonsynonymous SNV NCF2:NM_001190794:exon4:c.A407G:p.K136R,NCF2:NM_000433:exon5:c.A542G:p.K181R,NCF2:NM_001127651:exon6:c.A542G:p.K181R exonic ENSG00000116701 NA nonsynonymous SNV ENSG00000116701:ENST00000413720:exon4:c.A407G:p.K136R,ENSG00000116701:ENST00000367535:exon5:c.A542G:p.K181R,ENSG00000116701:ENST00000367536:exon6:c.A542G:p.K181R Score=461;Name=lod=100 NA 1q25.3 NA NA NA NA rs2274064 0.5 0.5 0.484 0.491613 0.4672 0.621 0.598 0.3306 0.5256 0.47 0.65 0.55 0.36 0.4895 0.65 0.86 T 0.0 B 0.001 B 0.075 N 0.000 P -0.29 N -0.1 T -0.933 T 0.000 T 0.011 0.216 5.163 1.27 0.100 0.583 9.926 0.215651 NA 0.85 0.466512 0.358829 NA 0.42 NA 6.9101214 969 17 72248512 72248512 C T exonic TTYH2 NA nonsynonymous SNV TTYH2:NM_052869:exon5:c.C293T:p.T98I,TTYH2:NM_032646:exon11:c.C1256T:p.T419I exonic ENSG00000141540 NA nonsynonymous SNV ENSG00000141540:ENST00000441391:exon5:c.C293T:p.T98I,ENSG00000141540:ENST00000269346:exon11:c.C1256T:p.T419I,ENSG00000141540:ENST00000529107:exon11:c.C1193T:p.T398I NA NA 17q25.1 NA NA NA NA rs12600564 0.08 0.08 0.062 0.0854633 0.1412 0.0456 0.134 0.0197 0.1237 0.15 0.04 0.1 0.01 0.1337 0.15 0.18 T 0.038 B 0.016 B 0.523 N 1.000 P 1.01 L 2.76 T -0.978 T 0.000 T 0.288 1.899 12.31 0.617 0.710 -0.018 4.459 1.898732 1.898732 0.22 0.148721 0.04335 NA 0.065 NA 6.9097124 969 7 30492550 30492550 G A exonic NOD1 NA synonymous SNV NOD1:NM_006092:exon6:c.C483T:p.D161D exonic ENSG00000106100 NA synonymous SNV ENSG00000106100:ENST00000222823:exon6:c.C483T:p.D161D,ENSG00000106100:ENST00000423334:exon6:c.C483T:p.D161D,ENSG00000106100:ENST00000434755:exon6:c.C483T:p.D161D Score=304;Name=lod=23 NA 7p14.3 NA Name=CTCF NA NA rs2235099 0.3 0.3 0.295 0.338059 0.2326 0.3869 0.1758 0.4024 0.4243 0.22 0.37 0.21 0.4 0.2784 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.177789 NA NA 0.246395 0.381071 NA 0.261 NA 6.9092716 969 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 969 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$NRSF_01 Name=SUZ12,CtBP2,NRSF Name=9 NA rs338074 0.95 0.95 0.94 0.9375 0.9165 0.9901 0.9323 0.9773 0.8548 0.91 0.99 0.92 0.97 0.9215 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.343872 1.343872 NA 0.920413 0.96905 NA 0.891 NA 6.9082536 969 13 115030714 115030714 T C exonic CDC16 NA synonymous SNV CDC16:NM_001078645:exon17:c.T1602C:p.I534I,CDC16:NM_003903:exon17:c.T1602C:p.I534I exonic ENSG00000130177 NA synonymous SNV ENSG00000130177:ENST00000252458:exon16:c.T1167C:p.I389I,ENSG00000130177:ENST00000375312:exon16:c.T1167C:p.I389I,ENSG00000130177:ENST00000252457:exon17:c.T1599C:p.I533I,ENSG00000130177:ENST00000356221:exon17:c.T1602C:p.I534I,ENSG00000130177:ENST00000360383:exon17:c.T1602C:p.I534I,ENSG00000130177:ENST00000375308:exon17:c.T1320C:p.I440I,ENSG00000130177:ENST00000375310:exon17:c.T1320C:p.I440I Score=653;Name=lod=600 NA 13q34 Score=816;Name=V$CDP_02 NA NA NA rs8809 0.34 0.34 0.359 0.369409 0.2565 0.1567 0.2853 0.6868 0.3354 0.25 0.19 0.28 0.68 0.2748 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294371 NA NA 0.22814 0.600318 NA 0.355 NA 6.9072266 969 8 21965113 21965113 T C exonic NUDT18 NA nonsynonymous SNV NUDT18:NM_024815:exon5:c.A670G:p.M224V exonic ENSG00000173566 NA nonsynonymous SNV ENSG00000173566:ENST00000522405:exon3:c.A439G:p.M147V,ENSG00000173566:ENST00000309188:exon5:c.A670G:p.M224V NA NA 8p21.3 NA NA NA NA rs3739435 0.54 0.54 0.526 0.554113 0.4563 0.619 0.6614 0.525 0.5511 0.48 0.6 0.62 0.5 0.5141 0.62 0.36 T . . . . 0.548 N 1.000 P . . . . -0.939 T 0.000 T 0.183 -0.518 1.637 -2.23 -0.488 -0.416 4.996 -0.517536 NA 0.66 0.456476 0.511007 NA 0.464 NA 6.9064574 969 3 122133830 122133830 T G exonic WDR5B NA synonymous SNV WDR5B:NM_019069:exon1:c.A546C:p.I182I exonic ENSG00000196981 NA synonymous SNV ENSG00000196981:ENST00000330689:exon1:c.A546C:p.I182I Score=712;Name=lod=1048 NA 3q21.1 Score=848;Name=V$GATA1_02 NA NA NA rs3749213 0.21 0.21 0.208 0.196286 0.2584 0.2192 0.2118 0.1089 0.2157 0.27 0.24 0.19 0.09 0.2418 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049227 NA NA 0.260349 0.123014 NA 0.152 NA 6.9061176 969 6 26509330 26509330 C G exonic BTN1A1 NA nonsynonymous SNV BTN1A1:NM_001732:exon7:c.C1509G:p.D503E exonic ENSG00000124557 NA nonsynonymous SNV ENSG00000124557:ENST00000244513:exon7:c.C1509G:p.D503E NA NA 6p22.2 NA NA NA NA rs9393728 0.52 0.52 0.513 0.56889 0.4423 0.746 0.5879 0.5159 0.5746 0.43 0.69 0.55 0.41 0.5146 0.69 1 T 0.001 B 0.001 B 0.296 N 1.000 P 0.345 N 1.36 T -0.976 T 0.011 T 0.011 -0.865 0.514 -1.89 -0.191 -1.754 4.423 -0.865325 NA 0.51 0.470581 0.521335 NA 0.377 NA 6.9058524 969 5 178770981 178770981 A G exonic ADAMTS2 NA synonymous SNV ADAMTS2:NM_014244:exon2:c.T321C:p.S107S,ADAMTS2:NM_021599:exon2:c.T321C:p.S107S exonic ENSG00000087116 NA synonymous SNV ENSG00000087116:ENST00000251582:exon2:c.T321C:p.S107S,ENSG00000087116:ENST00000274609:exon2:c.T321C:p.S107S NA NA 5q35.3 NA Name=USF2,CTCF Name=64 NA rs2271212 0.39 0.39 0.341 NA NA NA NA NA NA 0.4 0.51 0.4 0.24 0.4092 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.853245 NA NA 0.352352 0.224193 NA 0.435 NA 6.9051146 970 4 13606576 13606576 A T exonic BOD1L1 NA nonsynonymous SNV BOD1L1:NM_148894:exon10:c.T1948A:p.L650I exonic ENSG00000038219 NA nonsynonymous SNV ENSG00000038219:ENST00000040738:exon10:c.T1948A:p.L650I NA NA 4p15.33 NA NA NA NA rs1971278 0.75 0.75 0.722 0.724241 0.8082 0.9712 0.8458 0.3048 0.864 0.81 0.97 0.83 0.34 0.8074 0.97 0.62 T 0.0 B 0.0 B 0.420 N 1.000 P -0.55 N 3.31 T -1.025 T 0.000 T 0.016 -1.894 0.008 -3.2 -1.912 -0.209 11.233 -1.894004 NA 1 0.813256 0.371312 NA 0.696 NA 6.9044774 970 14 31819913 31819913 A G exonic HEATR5A NA synonymous SNV HEATR5A:NM_015473:exon17:c.T2422C:p.L808L exonic ENSG00000129493 NA synonymous SNV ENSG00000129493:ENST00000439727:exon11:c.T1543C:p.L515L,ENSG00000129493:ENST00000389961:exon16:c.T2404C:p.L802L,ENSG00000129493:ENST00000404677:exon16:c.T2422C:p.L808L,ENSG00000129493:ENST00000439348:exon16:c.T2404C:p.L802L,ENSG00000129493:ENST00000543095:exon17:c.T2422C:p.L808L Score=625;Name=lod=463 NA 14q12 NA NA NA NA rs7158257 0.82 0.82 0.822 0.805112 0.9513 0.7897 0.7522 0.6604 0.9039 0.95 0.81 0.76 0.68 0.8826 0.95 0.01 D . . . . . . 0.000 P . . -0.21 T -1.032 T 0.000 T . 0.613 7.3 0.709 0.097 1.984 8.692 0.612778 NA NA 0.929168 0.693788 NA 0.862 NA 6.9035986 970 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=Pol2,PU.1 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 970 11 61487690 61487690 G A exonic DAGLA NA synonymous SNV DAGLA:NM_006133:exon2:c.G63A:p.P21P exonic ENSG00000134780 NA synonymous SNV ENSG00000134780:ENST00000257215:exon2:c.G63A:p.P21P,ENSG00000134780:ENST00000540717:exon2:c.G63A:p.P21P Score=672;Name=lod=715 NA 11q12.2 Score=913;Name=V$GATA1_03 NA NA NA rs198430 0.29 0.29 0.264 0.30012 0.2416 0.4643 0.3213 0.2269 0.2751 0.24 0.39 0.31 0.21 0.2699 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.445435 1.445435 NA 0.253431 0.225023 ID=COSM429407;OCCURENCE=1(breast) 0.254 NA 6.9017356 970 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 970 3 15476011 15476011 C G exonic EAF1 NA synonymous SNV EAF1:NM_033083:exon4:c.C492G:p.P164P exonic ENSG00000144597 NA synonymous SNV ENSG00000144597:ENST00000432764:exon3:c.C189G:p.P63P,ENSG00000144597:ENST00000396842:exon4:c.C492G:p.P164P Score=591;Name=lod=337 NA 3p25.1 Score=952;Name=V$AREB6_01 NA NA NA rs1563415 0.22 0.22 0.189 0.207668 0.2485 0.2917 0.2363 0.0144 0.32 0.25 0.34 0.23 0.02 0.2531 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.220796 NA NA 0.263721 0.055606 NA 0.188 NA 6.9013456 970 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 970 17 78854223 78854223 A G exonic RPTOR NA synonymous SNV RPTOR:NM_020761:exon14:c.A1518G:p.Q506Q exonic ENSG00000141564 NA synonymous SNV ENSG00000141564:ENST00000306801:exon14:c.A1518G:p.Q506Q Score=565;Name=lod=263 NA 17q25.3 NA NA Name=3 NA rs2289759 0.25 0.25 0.247 0.248003 0.2515 0.3879 0.245 0.1188 0.2771 0.25 0.39 0.22 0.11 0.254 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134369 NA NA 0.260581 0.149796 NA 0.203 NA 6.9005856 970 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 970 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 970 11 7712561 7712561 T A exonic OVCH2 NA nonsynonymous SNV OVCH2:NM_198185:exon15:c.A1578T:p.Q526H exonic ENSG00000183378 NA nonsynonymous SNV ENSG00000183378:ENST00000454689:exon15:c.A1578T:p.Q526H NA NA 11p15.4 NA NA NA NA rs4519083 0.17 0.17 0.163 0.171925 0.1382 0.1627 0.1383 0.2776 0.0971 0.13 0.15 0.15 0.28 0.1504 0.28 0.63 T . . . . 0.018 N 1.000 P . . 1.68 T -0.939 T 0.000 T 0.062 0.214 5.155 -1.65 -0.655 -0.316 6.313 0.214109 NA 0.24 0.146448 0.247673 NA 0.152 NA 6.8982854 970 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 970 22 32554985 32554985 A G exonic C22orf42 NA nonsynonymous SNV C22orf42:NM_001010859:exon1:c.T218C:p.L73P exonic ENSG00000205856 NA nonsynonymous SNV ENSG00000205856:ENST00000382097:exon1:c.T218C:p.L73P NA NA 22q12.3 NA NA NA NA rs5998267 0.53 0.53 0.543 0.582468 0.4831 0.4167 0.4193 0.8495 0.6104 0.49 0.41 0.43 0.83 0.4922 0.83 0.15 T 0.0 B 0.0 B . . 1.000 P 0 N 1.36 T -0.996 T 0.000 T 0.039 -1.534 0.016 . -2.036 -1.336 . -1.533546 NA 0.27 0.461512 0.796187 NA 0.616 NA 6.8965214 970 5 81549216 81549216 C T exonic ATG10 NA nonsynonymous SNV ATG10:NM_031482:exon7:c.C635T:p.T212M,ATG10:NM_001131028:exon8:c.C635T:p.T212M exonic ENSG00000152348 NA nonsynonymous SNV ENSG00000152348:ENST00000282185:exon7:c.C635T:p.T212M,ENSG00000152348:ENST00000458350:exon8:c.C635T:p.T212M NA NA 5q14.2 Score=881;Name=V$OCT1_06 NA NA NA rs1864183 0.54 0.54 0.52 0.520767 0.4632 0.8909 0.5692 0.1747 0.6319 0.49 0.91 0.53 0.2 0.5092 0.91 0.17 T 0.113 B 0.006 B 0.769 N 1.000 P -0.69 N 1.93 T -1.013 T 0.000 T 0.065 1.793 11.95 1.65 0.404 -0.065 5.670 1.792911 1.792911 0.28 0.464651 0.207217 NA 0.486 NA 6.8962824 970 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$HOX13_01 NA NA NA rs3823482 0.3 0.3 0.298 0.303514 0.2604 0.5546 0.2651 0.1346 0.3446 0.26 0.53 0.26 0.13 0.2783 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.521511 1.521511 NA 0.23213 0.146804 NA 0.275 NA 6.8958366 971 19 58946056 58946056 G A exonic ZNF132 NA nonsynonymous SNV ZNF132:NM_003433:exon3:c.C755T:p.P252L exonic ENSG00000131849 NA nonsynonymous SNV ENSG00000131849:ENST00000254166:exon3:c.C755T:p.P252L NA NA 19q13.43 NA NA NA NA rs1465789 0.5 0.5 0.524 0.500599 0.494 0.3264 0.3818 0.7882 0.3824 0.49 0.32 0.42 0.81 0.4666 0.81 0.46 T 0.0 B 0.0 B . . 1.000 P -1.545 N 2.58 T -1.068 T 0.000 T 0.036 -1.388 0.024 0.98 0.010 -1.739 3.708 -1.387674 NA 0.74 0.478488 0.76532 NA 0.565 NA 6.8942454 971 1 177923440 177923440 T G exonic SEC16B NA synonymous SNV SEC16B:NM_033127:exon11:c.A1437C:p.P479P exonic ENSG00000120341 NA synonymous SNV ENSG00000120341:ENST00000308284:exon11:c.A1437C:p.P479P,ENSG00000120341:ENST00000464631:exon11:c.A1440C:p.P480P Score=559;Name=lod=250 NA 1q25.2 Score=689;Name=V$PPARG_02 NA NA NA rs12129817 0.17 0.17 0.155 0.166933 0.2286 0.0288 0.2032 0.1778 0.2055 0.23 0.02 0.22 0.2 0.3139 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.010748 2.010748 NA 0.23009 0.184156 NA 0.21 NA 6.8940766 971 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 971 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 971 X 39933339 39933339 A G exonic BCOR NA synonymous SNV BCOR:NM_001123383:exon4:c.T1260C:p.D420D,BCOR:NM_001123384:exon4:c.T1260C:p.D420D,BCOR:NM_001123385:exon4:c.T1260C:p.D420D,BCOR:NM_017745:exon4:c.T1260C:p.D420D exonic ENSG00000183337 NA synonymous SNV ENSG00000183337:ENST00000342274:exon4:c.T1260C:p.D420D,ENSG00000183337:ENST00000378444:exon4:c.T1260C:p.D420D,ENSG00000183337:ENST00000378455:exon4:c.T1260C:p.D420D,ENSG00000183337:ENST00000397354:exon4:c.T1260C:p.D420D,ENSG00000183337:ENST00000406200:exon4:c.T1260C:p.D420D Score=333;Name=lod=30 NA Xp11.4 Score=764;Name=V$YY1_02 NA NA NA rs5917933 0.93 0.93 0.93402 NA NA NA NA NA NA 0.89 0.97 0.94 0.94 0.8952 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.667411 NA NA 0.879162 0.924863 NA 0.63 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081809.3;CLNDSDB=.;CLNDSDBID=. 6.8923046 971 17 74936576 74936576 G A exonic MGAT5B NA synonymous SNV MGAT5B:NM_198955:exon12:c.G1704A:p.P568P,MGAT5B:NM_001199172:exon13:c.G1677A:p.P559P,MGAT5B:NM_144677:exon13:c.G1671A:p.P557P exonic ENSG00000167889 NA synonymous SNV ENSG00000167889:ENST00000428789:exon12:c.G1704A:p.P568P,ENSG00000167889:ENST00000301618:exon13:c.G1671A:p.P557P,ENSG00000167889:ENST00000569840:exon14:c.G1677A:p.P559P NA NA 17q25.2 Score=822;Name=V$SREBP1_02 NA Name=2 NA rs8081793 0.28 0.28 0.289 0.264976 0.2674 0.371 0.1744 0.2451 0.2444 0.27 0.35 0.21 0.28 0.2567 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.938794 NA NA 0.250581 0.255334 NA 0.232 NA 6.8919856 971 4 62845388 62845388 G C exonic LPHN3 NA synonymous SNV LPHN3:NM_015236:exon15:c.G2709C:p.R903R exonic ENSG00000150471 NA synonymous SNV ENSG00000150471:ENST00000504896:exon15:c.G2709C:p.R903R,ENSG00000150471:ENST00000506700:exon15:c.G2709C:p.R903R,ENSG00000150471:ENST00000508946:exon15:c.G2709C:p.R903R,ENSG00000150471:ENST00000514157:exon15:c.G2709C:p.R903R,ENSG00000150471:ENST00000514996:exon15:c.G2709C:p.R903R,ENSG00000150471:ENST00000545650:exon15:c.G2709C:p.R903R,ENSG00000150471:ENST00000506720:exon16:c.G2913C:p.R971R,ENSG00000150471:ENST00000506746:exon16:c.G2913C:p.R971R,ENSG00000150471:ENST00000507164:exon16:c.G2913C:p.R971R,ENSG00000150471:ENST00000507625:exon16:c.G2913C:p.R971R,ENSG00000150471:ENST00000508693:exon16:c.G2913C:p.R971R,ENSG00000150471:ENST00000509896:exon16:c.G2913C:p.R971R,ENSG00000150471:ENST00000511324:exon16:c.G2913C:p.R971R,ENSG00000150471:ENST00000512091:exon17:c.G2709C:p.R903R,ENSG00000150471:ENST00000514591:exon17:c.G2709C:p.R903R NA NA 4q13.1 NA NA NA NA rs1397547 0.84 0.84 0.8 0.816294 0.9404 0.8433 0.9207 0.6483 0.8139 0.93 0.87 0.93 0.59 0.8888 0.95 . . . . . . . . 0.000 P . . . . -1.102 T 0.000 T . 1.025 9.187 -9.09 -2.320 -2.476 11.314 1.024943 NA NA 0.946212 0.708395 NA 0.884 NA 6.8912546 971 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 971 1 85031630 85031630 G A exonic CTBS NA synonymous SNV CTBS:NM_004388:exon4:c.C591T:p.I197I exonic ENSG00000117151 NA synonymous SNV ENSG00000117151:ENST00000370630:exon4:c.C591T:p.I197I Score=648;Name=lod=575 NA 1p22.3 NA Name=PU.1 NA NA rs2994953 0.26 0.26 0.24 0.296725 0.2455 0.2341 0.2637 0.3404 0.3783 0.24 0.21 0.27 0.34 0.2713 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.464316 2.464316 NA 0.259767 0.325465 NA 0.232 NA 6.8900996 971 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 971 6 49425521 49425521 C T exonic MUT NA synonymous SNV MUT:NM_000255:exon3:c.G636A:p.K212K exonic ENSG00000146085 NA synonymous SNV ENSG00000146085:ENST00000274813:exon3:c.G636A:p.K212K Score=517;Name=lod=169 NA 6p12.3 NA Name=MafK_(ab50322) NA NA rs2229384 0.53 0.53 0.548 0.551518 0.5875 0.4792 0.389 0.5719 0.6769 0.62 0.43 0.42 0.59 0.5736 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868689 NA NA 0.616422 0.572628 NA 0.565 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000078447.1|RCV000126887.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.8891446 971 3 195516878 195516878 T C exonic MUC4 NA nonsynonymous SNV MUC4:NM_018406:exon2:c.A1573G:p.T525A exonic ENSG00000145113 NA nonsynonymous SNV ENSG00000145113:ENST00000462323:exon2:c.A1573G:p.T525A,ENSG00000145113:ENST00000463781:exon2:c.A1573G:p.T525A,ENSG00000145113:ENST00000466475:exon2:c.A1573G:p.T525A,ENSG00000145113:ENST00000470451:exon2:c.A1573G:p.T525A,ENSG00000145113:ENST00000475231:exon2:c.A1573G:p.T525A,ENSG00000145113:ENST00000477086:exon2:c.A1573G:p.T525A,ENSG00000145113:ENST00000477756:exon2:c.A1573G:p.T525A,ENSG00000145113:ENST00000478156:exon2:c.A1573G:p.T525A,ENSG00000145113:ENST00000479406:exon2:c.A1573G:p.T525A,ENSG00000145113:ENST00000480843:exon2:c.A1573G:p.T525A NA NA 3q29 NA NA NA NA rs2177336 0.79 0.79 0.809 0.772165 0.84 0.8155 0.6787 0.8056 0.6789 0.84 0.78 0.68 0.82 0.7806 0.84 1 T 0.053 B 0.009 B 0.000 N 1.000 P . . 1.83 T -0.963 T 0.000 T 0.04 -0.07 3.656 -2.77 -0.519 -3.870 2.700 -0.070489 NA 1 0.823692 0.822991 NA 0.833 NA 6.8890414 971 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$AREB6_04 NA Name=9 NA rs2469953 0.56 0.56 0.545 0.596845 0.5905 0.4067 0.5245 0.7262 0.6759 0.57 0.37 0.57 0.74 0.5862 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952764 NA NA 0.601163 0.6936 NA 0.63 NA 6.8888036 971 16 30198151 30198151 A G exonic CORO1A NA synonymous SNV CORO1A:NM_007074:exon4:c.A336G:p.P112P,CORO1A:NM_001193333:exon5:c.A336G:p.P112P exonic ENSG00000102879 NA synonymous SNV ENSG00000102879:ENST00000570244:exon3:c.A213G:p.P71P,ENSG00000102879:ENST00000219150:exon4:c.A336G:p.P112P,ENSG00000102879:ENST00000561815:exon4:c.A444G:p.P148P,ENSG00000102879:ENST00000563778:exon4:c.A336G:p.P112P,ENSG00000102879:ENST00000565497:exon4:c.A336G:p.P112P,ENSG00000102879:ENST00000569203:exon4:c.A336G:p.P112P,ENSG00000102879:ENST00000569970:exon4:c.A336G:p.P112P,ENSG00000102879:ENST00000570045:exon5:c.A336G:p.P112P NA NA 16p11.2 Score=969;Name=V$GATA1_01 Name=EBF,Pol2-4H8,EBF1_(C-8),TCF12,Pol2 Name=13 NA rs1132812 0.78 0.78 0.774 0.794129 0.5706 0.9256 0.7421 0.9501 0.7147 0.59 0.93 0.72 0.93 0.654 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 0.304803 NA NA 0.553385 0.890938 NA 0.732 NA 6.8886816 971 10 323283 323283 A G exonic DIP2C NA synonymous SNV DIP2C:NM_014974:exon37:c.T4653C:p.Y1551Y exonic ENSG00000151240 NA synonymous SNV ENSG00000151240:ENST00000280886:exon37:c.T4653C:p.Y1551Y Score=590;Name=lod=334 NA 10p15.3 NA Name=ZNF263 NA NA rs3740304 0.26 0.26 0.234 0.284145 0.2575 0.2381 0.2594 0.3116 0.3395 0.25 0.23 0.28 0.3 0.2704 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332436 NA NA 0.250349 0.292102 NA 0.188 NA 6.8884176 971 10 13151224 13151224 G A exonic OPTN NA synonymous SNV OPTN:NM_021980:exon2:c.G102A:p.T34T,OPTN:NM_001008212:exon3:c.G102A:p.T34T,OPTN:NM_001008211:exon4:c.G102A:p.T34T,OPTN:NM_001008213:exon4:c.G102A:p.T34T exonic ENSG00000123240 NA synonymous SNV ENSG00000123240:ENST00000378757:exon2:c.G102A:p.T34T,ENSG00000123240:ENST00000263036:exon3:c.G102A:p.T34T,ENSG00000123240:ENST00000378747:exon3:c.G102A:p.T34T,ENSG00000123240:ENST00000378764:exon3:c.G102A:p.T34T,ENSG00000123240:ENST00000378748:exon4:c.G102A:p.T34T,ENSG00000123240:ENST00000378752:exon4:c.G102A:p.T34T NA NA 10p13 Score=837;Name=V$GR_Q6 NA NA NA rs2234968 0.18 0.18 0.147 0.178315 0.2654 0.1925 0.2262 0.0144 0.2618 0.26 0.18 0.24 0.01 0.2385 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.266401 NA NA 0.274419 0.058557 ID=COSM146881;OCCURENCE=1(stomach) 0.174 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082082.1;CLNDSDB=.;CLNDSDBID=. 6.8883476 971 7 100386900 100386900 T C exonic ZAN NA unknown UNKNOWN exonic ENSG00000146839 NA nonsynonymous SNV ENSG00000146839:ENST00000538115:exon39:c.T7285C:p.W2429R,ENSG00000146839:ENST00000542585:exon39:c.T7285C:p.W2429R,ENSG00000146839:ENST00000546213:exon39:c.T2707C:p.W903R,ENSG00000146839:ENST00000546292:exon39:c.T7285C:p.W2429R NA NA 7q22.1 NA Name=CTCF_(SC-5916),CTCF,FOXA1_(SC-101058),FOXA1_(C-20),YY1,Rad21,YY1_(C-20),FOXA2_(SC-6554) Name=8 NA rs191137 0.94 0.94 0.942 0.937101 0.9215 0.9663 0.9265 0.9433 0.9223 0.93 0.96 0.93 0.96 0.9338 0.96 1 T 0.0 B 0.0 B 0.048 N 1.000 P . . 0.34 T -0.940 T 0.000 T 0.285 0.025 4.146 2.79 0.232 0.179 6.037 0.02542 NA NA 0.923123 0.955503 NA 0.87 NA 6.8882437 971 2 75923413 75923413 T C exonic GCFC2 NA nonsynonymous SNV GCFC2:NM_001201334:exon5:c.A239G:p.N80S,GCFC2:NM_003203:exon5:c.A746G:p.N249S exonic ENSG00000005436 NA nonsynonymous SNV ENSG00000005436:ENST00000442309:exon4:c.A521G:p.N174S,ENSG00000005436:ENST00000321027:exon5:c.A746G:p.N249S,ENSG00000005436:ENST00000409857:exon5:c.A632G:p.N211S NA NA 2p12 NA NA NA NA rs7560262 0.54 0.54 0.527 0.553315 0.4742 0.4147 0.5173 0.7988 0.4714 0.47 0.42 0.54 0.81 0.4987 0.81 0.85 T 0.0 B 0.0 B 0.445 N 1.000 P -1.7 N 2.59 T -1.000 T 0.000 T 0.017 -1.377 0.025 2.75 0.433 0.275 8.755 -1.377147 NA 0.92 0.472632 0.739707 ID=COSM148881;OCCURENCE=1(stomach) 0.681 NA 6.8878014 971 9 86278817 86278817 C A exonic UBQLN1 NA synonymous SNV UBQLN1:NM_053067:exon9:c.G1506T:p.L502L,UBQLN1:NM_013438:exon10:c.G1590T:p.L530L exonic ENSG00000135018 NA synonymous SNV ENSG00000135018:ENST00000257468:exon9:c.G1506T:p.L502L,ENSG00000135018:ENST00000376395:exon10:c.G1590T:p.L530L Score=533;Name=lod=196 NA 9q21.32 NA NA NA NA rs7866234 0.4 0.4 0.398 0.384784 0.2217 0.8075 0.4164 0.2005 0.3436 0.23 0.79 0.4 0.21 0.3211 0.79 . . . . . . . . 0.000 P . . . . -1.002 T 0.000 T . 0.274 5.48 -0.392 -0.369 0.036 12.954 0.273549 NA NA 0.236163 0.203132 NA 0.217 NA 6.8877036 971 6 32942302 32942302 G A exonic BRD2 NA synonymous SNV BRD2:NM_001199455:exon2:c.G93A:p.K31K,BRD2:NM_001113182:exon3:c.G93A:p.K31K,BRD2:NM_005104:exon3:c.G93A:p.K31K exonic ENSG00000204256 NA synonymous SNV ENSG00000204256:ENST00000395287:exon2:c.G93A:p.K31K,ENSG00000204256:ENST00000607833:exon2:c.G93A:p.K31K,ENSG00000204256:ENST00000374825:exon3:c.G93A:p.K31K,ENSG00000204256:ENST00000374831:exon3:c.G93A:p.K31K,ENSG00000204256:ENST00000395289:exon3:c.G93A:p.K31K,ENSG00000204256:ENST00000482914:exon3:c.G93A:p.K31K,ENSG00000204256:ENST00000495733:exon3:c.G93A:p.K31K Score=487;Name=lod=127 NA 6p21.32 NA NA NA NA rs516535 0.61 0.61 0.635 0.609225 0.5954 0.504 0.5389 0.7927 0.5337 0.61 0.49 0.53 0.82 0.5882 0.82 . . . . . . . . 0.000 P . . . . -1.074 T 0.063 T . 0.936 8.816 2.9 0.474 0.394 7.492 0.936314 NA NA 0.59593 0.777803 NA 0.761 NA 6.8871366 971 22 19906511 19906511 G A exonic TXNRD2 NA unknown UNKNOWN exonic ENSG00000184470 NA synonymous SNV ENSG00000184470:ENST00000334363:exon4:c.C246T:p.L82L,ENSG00000184470:ENST00000535882:exon4:c.C243T:p.L81L,ENSG00000184470:ENST00000542719:exon4:c.C156T:p.L52L Score=610;Name=lod=401 NA 22q11.21 Score=796;Name=V$HEN1_01 NA NA NA rs11541479 0.16 0.16 0.173 0.168131 0.1531 0.0129 0.1167 0.3661 0.1125 0.16 0.01 0.14 0.35 0.1463 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.327883 1.327883 NA 0.14762 0.344906 NA 0.051 NA 6.8863133 972 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 972 2 242573211 242573211 T C exonic THAP4 NA nonsynonymous SNV THAP4:NM_015963:exon2:c.A361G:p.S121G exonic ENSG00000176946 NA nonsynonymous SNV ENSG00000176946:ENST00000407315:exon2:c.A361G:p.S121G NA NA 2q37.3 NA NA NA NA rs7424328 0.6 0.6 0.585 0.610024 0.4592 0.8889 0.5908 0.5257 0.6053 0.46 0.87 0.55 0.52 0.5362 0.87 0.68 T 0.0 B 0.0 B 0.247 N 1.000 P -0.975 N -3.78 D -0.992 T 0.000 T 0.012 -1.142 0.108 -1.86 -0.591 -0.450 5.945 -1.141827 NA NA 0.453096 0.50522 NA 0.551 NA 6.8848374 972 4 48492769 48492769 A T exonic ZAR1 NA nonsynonymous SNV ZAR1:NM_175619:exon1:c.A461T:p.Q154L exonic ENSG00000182223 NA nonsynonymous SNV ENSG00000182223:ENST00000327939:exon1:c.A461T:p.Q154L NA NA 4p11 NA NA NA NA rs74929644 0.45 0.45 0.435 0.388179 0.5089 0.4454 0.572 0.171 0.3681 0.51 0.5 0.59 0.19 0.5481 0.59 0.34 T 0.0 B 0.001 B . . 1.000 P 0.55 N . . -0.896 T 0.000 T 0.066 1.834 12.09 -6.17 -0.489 -0.738 0.988 1.834066 1.834066 0.17 0.392499 0.168645 NA NA NA 6.8838344 972 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 972 6 29408313 29408313 C A exonic OR10C1 NA nonsynonymous SNV OR10C1:NM_013941:exon1:c.C521A:p.P174Q exonic ENSG00000206474 NA nonsynonymous SNV ENSG00000206474:ENST00000444197:exon1:c.C521A:p.P174Q NA NA 6p22.1 NA NA NA NA rs2074466 0.15 0.15 0.129 0.14976 0.1421 0.246 0.1988 0.0386 0.1738 0.15 0.23 0.2 0.03 0.1594 0.23 0.08 T 0.027 B 0.042 B 0.149 N 1.000 P 0.11 N 8.85 T -1.027 T 0.000 T 0.126 -0.977 0.296 -0.467 -0.367 -0.031 4.291 -0.976709 NA 0.32 0.14808 0.049338 NA 0.123 NA 6.8837534 972 5 52351413 52351413 G A exonic ITGA2 NA synonymous SNV ITGA2:NM_002203:exon8:c.G825A:p.T275T exonic ENSG00000164171 NA synonymous SNV ENSG00000164171:ENST00000296585:exon8:c.G825A:p.T275T,ENSG00000164171:ENST00000509814:exon8:c.G825A:p.T275T,ENSG00000164171:ENST00000509960:exon8:c.G825A:p.T275T,ENSG00000164171:ENST00000510722:exon8:c.G825A:p.T275T Score=414;Name=lod=64 NA 5q11.2 NA Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) NA NA rs1062535 0.37 0.37 0.354 NA NA NA NA NA NA 0.41 0.33 0.45 0.29 0.3847 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.954846 NA NA 0.398372 0.327281 NA 0.435 NA 6.8835946 972 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$FAC1_01 Name=TAL1_(SC-12984),Pol2,GABP,eGFP-JunB,Pol2(b),GATA-1,eGFP-GATA2,p300_(F-4) NA NA rs7551698 0.52 0.52 0.512 0.510383 0.6183 0.4544 0.4337 0.3805 0.6871 0.62 0.52 0.49 0.39 0.5688 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.112891 NA NA 0.596107 0.400372 NA 0.406 NA 6.8834596 972 12 8278181 8278181 A T exonic CLEC4A NA nonsynonymous SNV CLEC4A:NM_016184:exon2:c.A107T:p.H36L,CLEC4A:NM_194450:exon2:c.A107T:p.H36L exonic ENSG00000111729 NA nonsynonymous SNV ENSG00000111729:ENST00000229332:exon2:c.A107T:p.H36L,ENSG00000111729:ENST00000352620:exon2:c.A107T:p.H36L,ENSG00000111729:ENST00000546339:exon2:c.A74T:p.H25L NA NA 12p13.31 NA NA NA NA rs2024301 0.56 0.56 0.543 0.509585 0.6789 0.5208 0.5216 0.351 0.5297 0.68 0.53 0.56 0.4 0.597 0.68 0.49 T 0.97 D 0.714 P . . 1.000 P 1.65 L 5.47 T -0.932 T 0.000 T 0.365 0.647 7.474 -1.34 -0.227 0.306 3.868 0.647192 NA 0.15 0.67407 0.403541 NA 0.587 NA 6.8833634 972 9 131586374 131586374 G A exonic C9orf114 NA synonymous SNV C9orf114:NM_016390:exon10:c.C891T:p.A297A exonic ENSG00000198917 NA synonymous SNV ENSG00000198917:ENST00000467582:exon2:c.C132T:p.A44A,ENSG00000198917:ENST00000361256:exon10:c.C891T:p.A297A Score=321;Name=lod=27 NA 9q34.11 Score=866;Name=V$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 972 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 972 9 32784838 32784838 T C exonic TMEM215 NA synonymous SNV TMEM215:NM_212558:exon2:c.T657C:p.C219C exonic ENSG00000188133 NA synonymous SNV ENSG00000188133:ENST00000342743:exon2:c.T657C:p.C219C Score=625;Name=lod=461 NA 9p21.1 Score=858;Name=V$FOXJ2_02 NA NA NA rs1810807 0.22 0.22 0.207 0.172524 0.2753 0.2183 0.2277 0.0575 0.136 0.28 0.25 0.26 0.07 0.239 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.609154 NA NA 0.270277 0.094922 NA 0.159 NA 6.8820896 972 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,CTCF_(C-20),Rad21,SMC3_(ab9263) 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 972 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 972 19 55559715 55559715 G A exonic RDH13 NA synonymous SNV RDH13:NM_001145971:exon5:c.C640T:p.L214L,RDH13:NM_138412:exon6:c.C427T:p.L143L exonic ENSG00000160439 NA synonymous SNV ENSG00000160439:ENST00000291892:exon5:c.C640T:p.L214L,ENSG00000160439:ENST00000415061:exon5:c.C640T:p.L214L,ENSG00000160439:ENST00000592573:exon5:c.C640T:p.L214L,ENSG00000160439:ENST00000396247:exon6:c.C427T:p.L143L Score=517;Name=lod=169 NA 19q13.42 Score=796;Name=V$OLF1_01 NA NA NA rs2305543 0.31 0.31 0.302 0.314297 0.2485 0.4593 0.2219 0.2799 0.3446 0.23 0.48 0.23 0.27 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 1.150759 NA NA 0.247602 0.256825 NA 0.188 NA 6.8815646 972 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 972 20 1099523 1099523 T G exonic PSMF1 NA nonsynonymous SNV PSMF1:NM_006814:exon1:c.T107G:p.F36C,PSMF1:NM_178578:exon2:c.T107G:p.F36C exonic ENSG00000125818 NA nonsynonymous SNV ENSG00000125818:ENST00000246015:exon1:c.T107G:p.F36C,ENSG00000125818:ENST00000335877:exon1:c.T107G:p.F36C,ENSG00000125818:ENST00000438768:exon1:c.T107G:p.F36C,ENSG00000125818:ENST00000333082:exon2:c.T107G:p.F36C,ENSG00000125818:ENST00000381899:exon2:c.T107G:p.F36C Score=560;Name=lod=252 NA 20p13 NA NA Name=4 NA rs1803415 0.72 0.72 0.726 0.729832 0.838 0.4583 0.7723 0.8071 0.7638 0.83 0.45 0.79 0.83 0.7856 0.83 0.11 T 0.0 B 0.002 B 0.240 N 0.000 P 0 N 0.99 T -1.057 T 0.000 T 0.426 -0.892 0.455 1.94 0.206 -0.118 3.095 -0.892019 NA 0.17 0.829186 0.811621 NA 0.855 NA 6.8805474 972 1 165218792 165218792 G A exonic LMX1A NA synonymous SNV LMX1A:NM_001174069:exon4:c.C349T:p.L117L,LMX1A:NM_177398:exon4:c.C349T:p.L117L exonic ENSG00000162761 NA synonymous SNV ENSG00000162761:ENST00000367893:exon3:c.C349T:p.L117L,ENSG00000162761:ENST00000294816:exon4:c.C349T:p.L117L,ENSG00000162761:ENST00000342310:exon4:c.C349T:p.L117L Score=679;Name=lod=768 NA 1q23.3 Score=903;Name=V$AREB6_02,V$USF_02 NA NA NA rs10753668 0.32 0.32 0.27 0.324681 0.2406 0.5605 0.3545 0.1263 0.4151 0.25 0.55 0.35 0.12 0.3039 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141854 NA NA 0.242791 0.160917 NA 0.254 NA 6.8793756 972 4 120528327 120528327 G A exonic PDE5A NA nonsynonymous SNV PDE5A:NM_001083:exon2:c.C278T:p.A93V,PDE5A:NM_033430:exon2:c.C152T:p.A51V,PDE5A:NM_033437:exon2:c.C122T:p.A41V exonic ENSG00000138735 NA nonsynonymous SNV ENSG00000138735:ENST00000264805:exon2:c.C152T:p.A51V,ENSG00000138735:ENST00000354960:exon2:c.C278T:p.A93V,ENSG00000138735:ENST00000394439:exon2:c.C122T:p.A41V,ENSG00000138735:ENST00000420633:exon2:c.C122T:p.A41V NA NA 4q26 NA NA NA NA rs3733526 0.81 0.81 0.796 0.810104 0.8131 0.8968 0.8588 0.6952 0.8384 0.8 0.91 0.85 0.68 0.8226 0.91 0.3 T 0.0 B 0.002 B 0.752 N 1.000 P 0.895 L 3.06 T -1.054 T 0.000 T 0.122 1.832 12.08 2.84 0.259 1.014 5.266 1.831551 1.831551 0.46 0.819186 0.695188 NA 0.804 NA 6.8784474 972 6 25426768 25426768 G A exonic LRRC16A NA nonsynonymous SNV LRRC16A:NM_001173977:exon4:c.G229A:p.V77I,LRRC16A:NM_017640:exon4:c.G229A:p.V77I exonic ENSG00000079691 NA nonsynonymous SNV ENSG00000079691:ENST00000329474:exon4:c.G229A:p.V77I NA NA 6p22.2 NA NA NA NA rs9358856 0.16 0.16 0.134 0.16274 0.1511 0.2331 0.1484 0.09 0.2106 0.15 0.23 0.15 0.1 0.1604 0.23 0.2 T 0.0 B 0.0 B 0.699 N 1.000 P -0.345 N 2.5 T -0.925 T 0.004 T 0.013 0.302 5.636 -1.37 -0.844 0.227 1.819 0.301961 NA 0.24 0.144027 0.077022 NA 0.116 NA 6.8778064 972 2 70677994 70677994 G A exonic TGFA NA synonymous SNV TGFA:NM_001099691:exon6:c.C477T:p.V159V,TGFA:NM_003236:exon6:c.C480T:p.V160V exonic ENSG00000163235 NA synonymous SNV ENSG00000163235:ENST00000295400:exon6:c.C480T:p.V160V,ENSG00000163235:ENST00000418333:exon6:c.C477T:p.V159V,ENSG00000163235:ENST00000444975:exon6:c.C498T:p.V166V,ENSG00000163235:ENST00000450929:exon6:c.C495T:p.V165V Score=361;Name=lod=39 NA 2p13.3 NA NA Name=3 NA rs2166975 0.21 0.21 0.198 0.207468 0.2565 0.2877 0.1326 0.1309 0.2311 0.25 0.27 0.16 0.1 0.2615 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.029363 NA NA 0.27093 0.165456 ID=COSM330436;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.254 NA 6.8777366 972 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 972 2 160676427 160676427 C A exonic LY75,LY75-CD302 NA nonsynonymous SNV LY75-CD302:NM_001198759:exon29:c.G3963T:p.K1321N,LY75-CD302:NM_001198760:exon29:c.G3963T:p.K1321N,LY75:NM_002349:exon29:c.G3963T:p.K1321N exonic ENSG00000054219,ENSG00000248672 NA nonsynonymous SNV ENSG00000054219:ENST00000263636:exon29:c.G3963T:p.K1321N,ENSG00000248672:ENST00000504764:exon29:c.G3963T:p.K1321N,ENSG00000248672:ENST00000505052:exon29:c.G3963T:p.K1321N,ENSG00000054219:ENST00000553424:exon29:c.G3963T:p.K1321N,ENSG00000054219:ENST00000554112:exon29:c.G3963T:p.K1321N Score=349;Name=lod=35 NA 2q24.2 NA NA NA NA rs12692566 0.86 0.86 0.856 0.845447 0.8042 0.9058 0.879 0.9017 0.726 0.79 0.9 0.87 0.92 0.8241 0.92 1 T 0.0 B 0.002 B . . 1.000 P -1.065 N 3.2 T -0.999 T 0.000 T 0.115 -0.678 1.043 4.5 0.427 0.420 3.407 -0.678141 NA 1 0.827674 0.889773 NA 0.899 NA 6.8773594 972 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 972 X 12939412 12939412 C A exonic TLR8 NA synonymous SNV TLR8:NM_138636:exon2:c.C2253A:p.I751I exonic ENSG00000101916 NA synonymous SNV ENSG00000101916:ENST00000218032:exon2:c.C2253A:p.I751I,ENSG00000101916:ENST00000311912:exon3:c.C2307A:p.I769I Score=265;Name=lod=16 NA Xp22.2 NA Name=eGFP-JunD,BATF NA NA rs3747414 0.51 0.51 0.49285 NA NA NA NA NA NA 0.32 0.79 0.6 0.41 0.4466 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 -1.866752 NA NA 0.344828 0.378096 ID=COSM150766;OCCURENCE=1(stomach) 0.283 NA 6.8752386 972 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=YY1_(C-20),Oct-2,E2F4,Sin3Ak-20,PAX5-C20,SREBP1,TBP,PAX5-N19,ELK4,Pol2(b),YY1,GTF2F1_(RAP-74),Pol2(phosphoS2),Pol2,HA-E2F1,TAF7_(SQ-8),TCF12,E2F6_(H-50),GTF2B,POU2F2,NFKB,RFX5_(N-494),TAF1,Pol2-4H8,HEY1,Pbx3 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 973 4 185615764 185615764 C A exonic CCDC111 NA nonsynonymous SNV CCDC111:NM_152683:exon14:c.C1514A:p.T505K exonic ENSG00000164306 NA nonsynonymous SNV ENSG00000164306:ENST00000515774:exon13:c.C1127A:p.T376K,ENSG00000164306:ENST00000314970:exon14:c.C1514A:p.T505K,ENSG00000164306:ENST00000503752:exon14:c.C1514A:p.T505K,ENSG00000164306:ENST00000512834:exon14:c.C1511A:p.T504K NA NA 4q35.1 NA NA NA NA rs14969 0.14 0.14 0.143 0.146366 0.1481 0.001 0.1369 0.3011 0.092 0.14 NA 0.16 0.31 0.1473 0.31 0.62 T 0.0 B 0.0 B 0.045 N 1.000 P -1.39 N 1.63 T -0.977 T 0.000 T 0.058 -1.375 0.026 -0.002 0.055 -0.366 4.182 -1.374732 NA 0.55 0.163605 0.276895 NA 0.21 NA 6.8743284 973 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 973 8 124138855 124138855 G A exonic WDR67 NA synonymous SNV WDR67:NM_001145088:exon13:c.G1812A:p.L604L,WDR67:NM_145647:exon13:c.G1812A:p.L604L exonic ENSG00000156787 NA synonymous SNV ENSG00000156787:ENST00000518805:exon7:c.G711A:p.L237L,ENSG00000156787:ENST00000378080:exon12:c.G1497A:p.L499L,ENSG00000156787:ENST00000521676:exon12:c.G1443A:p.L481L,ENSG00000156787:ENST00000522420:exon12:c.G1497A:p.L499L,ENSG00000156787:ENST00000287380:exon13:c.G1812A:p.L604L,ENSG00000156787:ENST00000309336:exon13:c.G1812A:p.L604L,ENSG00000156787:ENST00000327098:exon13:c.G1812A:p.L604L Score=443;Name=lod=84 NA 8q24.13 NA NA Name=2 NA rs16898012 0.28 0.28 0.271 0.297524 0.2525 0.1815 0.3732 0.3858 0.2904 0.26 0.2 0.3 0.41 0.2828 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827657 NA NA 0.257907 0.383795 NA 0.348 NA 6.8734596 973 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 973 X 152482917 152482917 T C exonic MAGEA1 NA nonsynonymous SNV MAGEA1:NM_004988:exon3:c.A94G:p.T32A exonic ENSG00000198681 NA nonsynonymous SNV ENSG00000198681:ENST00000356661:exon3:c.A94G:p.T32A NA NA Xq28 NA NA NA NA rs2008160 0.36 0.36 0.35453 NA NA NA NA NA NA 0.17 0.58 0.37 0.39 0.2727 0.58 1 T 0.0 B 0.003 B 0.023 N 1.000 P -0.125 N 3.65 T -0.921 T 0.000 T 0.026 -2.46 0.003 -1.56 -1.829 -0.564 . -2.459661 NA 1 0.189061 0.346545 ID=COSM1579379;OCCURENCE=1(ovary) 0.239 NA 6.8715724 973 2 85818886 85818886 C T exonic VAMP5 NA synonymous SNV VAMP5:NM_006634:exon2:c.C42T:p.N14N exonic ENSG00000168899 NA synonymous SNV ENSG00000168899:ENST00000306384:exon2:c.C42T:p.N14N NA NA 2p11.2 NA Name=GATA-2 Name=16 NA rs14976 0.18 0.18 0.168 0.192292 0.2813 0.0883 0.2003 0.152 0.2566 0.27 0.06 0.23 0.12 0.2337 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.074455 NA NA 0.280233 0.157059 NA 0.203 NA 6.8714336 973 6 165832227 165832227 C T exonic PDE10A NA synonymous SNV PDE10A:NM_001130690:exon11:c.G894A:p.A298A exonic ENSG00000112541 NA synonymous SNV ENSG00000112541:ENST00000354448:exon11:c.G864A:p.A288A,ENSG00000112541:ENST00000539869:exon11:c.G894A:p.A298A,ENSG00000112541:ENST00000366882:exon12:c.G864A:p.A288A Score=577;Name=lod=295 NA 6q27 NA NA NA Score=62;Name=2135745_0_+_62 rs220740 0.23 0.23 0.239 0.24401 0.2475 0.0813 0.1916 0.4236 0.2025 0.24 0.07 0.23 0.37 0.2564 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.008699 NA NA 0.291744 0.401271 NA 0.304 NA 6.8710226 973 7 97873994 97873994 G A exonic TECPR1 NA synonymous SNV TECPR1:NM_015395:exon5:c.C420T:p.Y140Y exonic ENSG00000205356 NA synonymous SNV ENSG00000205356:ENST00000542604:exon4:c.C183T:p.Y61Y,ENSG00000205356:ENST00000379795:exon5:c.C420T:p.Y140Y,ENSG00000205356:ENST00000447648:exon5:c.C420T:p.Y140Y Score=489;Name=lod=129 NA 7q21.3 Score=785;Name=V$TAXCREB_01 NA NA NA rs1874344 0.32 0.32 0.307 0.302117 0.2744 0.4534 0.3285 0.2126 0.2771 0.28 0.48 0.28 0.21 0.2849 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139745 NA NA 0.237115 0.193307 ID=COSM453636;OCCURENCE=2(breast) 0.275 NA 6.8702516 973 21 43531403 43531403 C G exonic UMODL1 NA nonsynonymous SNV UMODL1:NM_001199527:exon11:c.C1855G:p.R619G,UMODL1:NM_173568:exon11:c.C2071G:p.R691G exonic ENSG00000177398 NA nonsynonymous SNV ENSG00000177398:ENST00000400427:exon11:c.C1855G:p.R619G,ENSG00000177398:ENST00000408989:exon11:c.C2071G:p.R691G NA NA 21q22.3 NA NA NA NA rs220127 0.74 0.74 0.723 0.722644 0.8062 0.881 0.8343 0.4304 0.7894 0.82 0.86 0.81 0.43 0.8424 0.86 0.45 T 0.0 B 0.0 B . . 1.000 P . . -0.37 T -0.985 T 0.000 T 0.013 -0.429 2.002 -3.33 -1.264 -0.665 2.009 -0.429238 NA 0.34 0.814882 0.598281 NA 0.681 NA 6.8698514 973 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 973 11 61672235 61672235 T C exonic RAB3IL1 NA synonymous SNV RAB3IL1:NM_001271686:exon5:c.A699G:p.T233T,RAB3IL1:NM_013401:exon6:c.A777G:p.T259T exonic ENSG00000167994 NA synonymous SNV ENSG00000167994:ENST00000301773:exon5:c.A699G:p.T233T,ENSG00000167994:ENST00000394836:exon6:c.A777G:p.T259T NA NA 11q12.2 NA Name=TAF1,HEY1 Name=16 NA rs174473 0.3 0.3 0.264 0.350439 0.2336 0.378 0.2161 0.3601 0.5245 0.24 0.35 0.27 0.36 0.3456 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.618413 NA NA 0.218408 0.356168 NA 0.297 NA 6.8690586 973 14 64686125 64686125 G T exonic SYNE2 NA synonymous SNV SYNE2:NM_182910:exon3:c.G381T:p.L127L,SYNE2:NM_182913:exon5:c.G759T:p.L253L,SYNE2:NM_015180:exon109:c.G19788T:p.L6596L,SYNE2:NM_182914:exon110:c.G19857T:p.L6619L exonic ENSG00000054654 NA synonymous SNV ENSG00000054654:ENST00000441438:exon3:c.G381T:p.L127L,ENSG00000054654:ENST00000458046:exon5:c.G759T:p.L253L,ENSG00000054654:ENST00000554805:exon8:c.G1137T:p.L379L,ENSG00000054654:ENST00000555022:exon10:c.G1422T:p.L474L,ENSG00000054654:ENST00000394768:exon57:c.G8943T:p.L2981L,ENSG00000054654:ENST00000555002:exon61:c.G9759T:p.L3253L,ENSG00000054654:ENST00000344113:exon109:c.G19788T:p.L6596L,ENSG00000054654:ENST00000554584:exon109:c.G19536T:p.L6512L,ENSG00000054654:ENST00000357395:exon110:c.G8943T:p.L2981L,ENSG00000054654:ENST00000358025:exon110:c.G19857T:p.L6619L Score=443;Name=lod=84 NA 14q23.2 NA NA NA NA rs35648226 0.21 0.21 0.204 0.209665 0.2744 0.1131 0.1974 0.2057 0.2566 0.27 0.11 0.2 0.24 0.2409 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577076 NA NA 0.283256 0.216523 NA 0.167 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118530.1;CLNDSDB=.;CLNDSDBID=. 6.8681106 973 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 973 17 49048064 49048064 A G intronic SPAG9 NA NA NA intronic ENSG00000008294 NA NA NA Score=409;Name=lod=61 NA 17q21.33 NA Name=FOXA1_(C-20) Name=9 NA rs11656955 0.02 0.02 0.012 0.014976 0.0427 NA 0.0346 0.0023 0.0051 0.04 NA 0.03 0.01 0.042 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 -0.276549 NA NA 0.048837 0.011121 NA 0.08 NA 6.866463 973 3 187446211 187446211 C T exonic BCL6 NA nonsynonymous SNV BCL6:NM_001134738:exon5:c.G1477A:p.A493T,BCL6:NM_001130845:exon6:c.G1477A:p.A493T,BCL6:NM_001706:exon6:c.G1477A:p.A493T exonic ENSG00000113916 NA nonsynonymous SNV ENSG00000113916:ENST00000450123:exon5:c.G1477A:p.A493T,ENSG00000113916:ENST00000232014:exon6:c.G1477A:p.A493T,ENSG00000113916:ENST00000406870:exon6:c.G1477A:p.A493T NA NA 3q27.3 NA NA NA NA rs2229362 0.18 0.18 0.211 0.185104 0.1392 0.0784 0.1282 0.4092 0.0798 0.13 0.07 0.13 0.4 0.1759 0.4 0.59 T 0.004 B 0.001 B 0.013 N 1.000 P 0.205 N 3.13 T -0.924 T 0.000 T 0.067 0.447 6.427 -0.824 0.013 0.433 2.425 0.44685 NA 0.37 0.152093 0.404902 NA 0.174 NA 6.8661404 973 19 45017249 45017249 T C exonic CEACAM20 NA nonsynonymous SNV CEACAM20:NM_001102598:exon6:c.A1130G:p.Y377C,CEACAM20:NM_001102599:exon6:c.A1130G:p.Y377C,CEACAM20:NM_001102597:exon7:c.A1409G:p.Y470C,CEACAM20:NM_001102600:exon7:c.A1409G:p.Y470C ncRNA_exonic ENSG00000176395 NA NA NA NA NA 19q13.31 NA Name=CTCF,CTCF_(C-20),CTCF_(SC-5916),NRSF,Rad21,CTCFL_(SC-98982) Name=54 NA rs1465723 0.14 0.14 0.124 0.116613 0.2376 0.0645 0.1383 0.0613 0.1053 0.25 0.07 0.14 0.05 0.1846 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283641 NA 0.14 0.212005 0.081602 NA 0.232 NA 6.865795 973 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=c-Fos,CEBPB,Pol2(b),c-Myc,Sin3Ak-20,Pol2-4H8,TAF1,NFKB,HEY1,Pol2 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 974 19 5844537 5844537 A G exonic FUT3 NA nonsynonymous SNV FUT3:NM_001097641:exon2:c.T314C:p.M105T,FUT3:NM_000149:exon3:c.T314C:p.M105T,FUT3:NM_001097639:exon3:c.T314C:p.M105T,FUT3:NM_001097640:exon3:c.T314C:p.M105T exonic ENSG00000171124 NA nonsynonymous SNV ENSG00000171124:ENST00000458379:exon2:c.T314C:p.M105T,ENSG00000171124:ENST00000303225:exon3:c.T314C:p.M105T,ENSG00000171124:ENST00000589620:exon3:c.T314C:p.M105T,ENSG00000171124:ENST00000589714:exon3:c.T314C:p.M105T,ENSG00000171124:ENST00000589918:exon3:c.T314C:p.M105T NA NA 19p13.3 NA NA NA NA rs778986 0.89 0.89 0.874 0.888379 0.8201 0.9692 0.866 0.8994 0.8763 0.83 0.97 0.87 0.92 0.8368 0.97 0.02 D 0.0 B 0.0 B 0.001 D 1.000 P . . 1.84 T -1.087 T 0.000 T 0.084 0.267 5.445 -0.403 -0.638 -0.147 4.236 0.267302 NA 0.07 0.811744 0.891739 NA 0.862 NA 6.8646894 974 7 95025600 95025600 G A exonic PON3 NA synonymous SNV PON3:NM_000940:exon1:c.C63T:p.F21F exonic ENSG00000005421,ENSG00000105852 NA synonymous SNV ENSG00000105852:ENST00000265627:exon1:c.C63T:p.F21F,ENSG00000105852:ENST00000418617:exon1:c.C63T:p.F21F,ENSG00000105852:ENST00000427422:exon1:c.C63T:p.F21F,ENSG00000105852:ENST00000442770:exon1:c.C63T:p.F21F,ENSG00000105852:ENST00000451904:exon1:c.C63T:p.F21F,ENSG00000105852:ENST00000456855:exon1:c.C63T:p.F21F,ENSG00000005421:ENST00000542556:exon1:c.C63T:p.F21F NA NA 7q21.3 NA Name=HEY1,ZEB1_(SC-25388),CTCF_(C-20),Pol2-4H8,CTCF_(SC-5916),CTCF,Pol2,GR,SMC3_(ab9263),ZBTB7A_(SC-34508),Rad21 Name=17 NA rs13226149 0.27 0.27 0.229 0.304712 0.2555 0.1667 0.245 0.4024 0.408 0.26 0.18 0.25 0.42 0.2925 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069957 NA NA 0.254302 0.335906 NA 0.297 NA 6.8643646 974 5 140222641 140222641 A G exonic PCDHA8 NA nonsynonymous SNV PCDHA8:NM_018911:exon1:c.A1735G:p.K579E,PCDHA8:NM_031856:exon1:c.A1735G:p.K579E exonic ENSG00000204962 NA nonsynonymous SNV ENSG00000204962:ENST00000378123:exon1:c.A1735G:p.K579E,ENSG00000204962:ENST00000531613:exon1:c.A1735G:p.K579E NA NA 5q31.3 NA NA NA NA rs6580012 0.55 0.55 0.529 0.575479 0.4911 0.5268 0.562 0.7345 0.5072 0.49 0.53 0.51 0.71 0.506 0.71 1 T 0.0 B 0.0 B 0.002 N 1.000 P -1.1 N 2.12 T -0.982 T 0.000 T 0.012 -0.666 1.084 0.381 -0.581 1.550 6.129 -0.665977 NA 1 0.472183 0.713667 ID=COSM448785,COSM448786;OCCURENCE=2(breast) 0.283 NA 6.8640504 974 7 91503228 91503228 C T exonic MTERF NA nonsynonymous SNV MTERF:NM_006980:exon3:c.G880A:p.A294T exonic ENSG00000127989 NA nonsynonymous SNV ENSG00000127989:ENST00000419292:exon2:c.G820A:p.A274T,ENSG00000127989:ENST00000351870:exon3:c.G880A:p.A294T,ENSG00000127989:ENST00000406735:exon4:c.G820A:p.A274T NA NA 7q21.2 NA NA NA NA rs10266424 0.41 0.41 0.374 0.39996 0.5169 0.4633 0.5 0.1861 0.4325 0.52 0.44 0.48 0.18 0.4664 0.52 0.62 T 0.0 B 0.0 B 0.567 N 1.000 P -0.69 N 2.69 T -0.949 T 0.000 T 0.029 -1.776 0.01 -4.14 -0.441 -0.680 6.537 -1.775726 NA 0.7 0.487209 0.244666 NA 0.42 NA 6.8628244 974 2 27676287 27676287 A T exonic IFT172 NA synonymous SNV IFT172:NM_015662:exon35:c.T3915A:p.S1305S exonic ENSG00000138002 NA nonsynonymous SNV ENSG00000138002:ENST00000450564:exon2:c.T247A:p.W83R NA NA 2p23.3 NA NA NA NA rs56076827 0.31 0.31 0.285 0.353634 0.3678 0.1667 0.4539 0.3722 0.4356 0.38 0.14 0.4 0.34 0.3886 0.41 . . . . . . . . 0.986 P . . . . -0.987 T 0.000 T . 1.402 10.62 -10.5 -2.461 -0.796 1.335 1.401574 1.401574 0 0.38093 0.365865 NA 0.478 NA 6.86267 974 14 77236380 77236380 C T exonic VASH1 NA synonymous SNV VASH1:NM_014909:exon2:c.C384T:p.Y128Y exonic ENSG00000071246 NA synonymous SNV ENSG00000071246:ENST00000167106:exon2:c.C384T:p.Y128Y,ENSG00000071246:ENST00000554237:exon2:c.C384T:p.Y128Y Score=606;Name=lod=388 NA 14q24.3 Score=824;Name=V$ATF_01 Name=RFX5_(N-494) NA NA rs3815550 0.53 0.53 0.522 0.53774 0.6093 0.4633 0.5159 0.4523 0.6718 0.62 0.47 0.53 0.46 0.5777 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.341169 1.341169 NA 0.617093 0.492964 NA 0.406 NA 6.8625736 974 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=Pol2-4H8,BCL11A,NFKB,HMGN3,TAF1,IRF3,BCLAF1_(M33-P5B11),GATA-1,E2F1,NF-E2,p300_(F-4),NELFe,HEY1,STAT1,CHD2_(N-1250),HA-E2F1,GATA-2,GATA2_(CG2-96),USF-1,Pol2(phosphoS2),Pol2,MafK_(ab50322),E2F6,POU2F2,Brg1,TAF7_(SQ-8),p300,Ini1,TCF12,c-Fos,CEBPB,TBP,CCNT2,Egr-1,ELK4,Pol2(b),eGFP-GATA2,SIRT6,GTF2F1_(RAP-74),STAT2,ZNF263,SP1,IRF1,p300_(N-15),c-Myc,Oct-2,ZBTB33,YY1_(C-20),Max,GCN5,TCF4,Mxi1_(bHLH),STAT3,RXRA,GATA3_(SC-268),Sin3Ak-20 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 974 8 22526559 22526559 G A exonic BIN3 NA synonymous SNV BIN3:NM_018688:exon1:c.C6T:p.S2S exonic ENSG00000147439 NA synonymous SNV ENSG00000147439:ENST00000276416:exon1:c.C6T:p.S2S,ENSG00000147439:ENST00000520292:exon1:c.C6T:p.S2S,ENSG00000147439:ENST00000522268:exon1:c.C6T:p.S2S,ENSG00000147439:ENST00000522687:exon1:c.C6T:p.S2S Score=452;Name=lod=92 NA 8p21.3 NA Name=TBP,ELK4,PAX5-N19,PU.1,ZBTB7A_(SC-34508),CEBPB,JunD,SP1,eGFP-JunD,Sin3Ak-20,STAT3,NFKB,TAF1,RFX5_(N-494),GABP,eGFP-JunB,Pol2-4H8,ELF1_(SC-631),HEY1,Pol2,HA-E2F1 NA NA rs11550509 0.12 0.12 0.112 0.0988419 0.2555 0.0069 0.1614 0.0106 0.1074 0.27 0.01 0.14 0.02 0.2961 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.952588 2.952588 NA 0.252911 0.055472 NA 0.174 NA 6.8621556 974 20 10620275 10620275 G A exonic JAG1 NA synonymous SNV JAG1:NM_000214:exon26:c.C3528T:p.Y1176Y exonic ENSG00000101384 NA synonymous SNV ENSG00000101384:ENST00000423891:exon24:c.C3051T:p.Y1017Y,ENSG00000101384:ENST00000254958:exon26:c.C3528T:p.Y1176Y Score=562;Name=lod=256 NA 20p12.2 NA NA NA NA rs1051421 0.21 0.21 0.201 0.180112 0.2833 0.1667 0.2565 0.0681 0.1851 0.29 0.17 0.28 0.07 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 -0.365212 NA NA 0.283605 0.119837 ID=COSM149139;OCCURENCE=1(stomach) 0.225 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000035333.1|RCV000125431.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.8614616 974 13 25367282 25367282 A C exonic RNF17 NA nonsynonymous SNV RNF17:NM_001184993:exon10:c.A1038C:p.K346N,RNF17:NM_031277:exon10:c.A1038C:p.K346N exonic ENSG00000132972 NA nonsynonymous SNV ENSG00000132972:ENST00000255324:exon10:c.A1038C:p.K346N,ENSG00000132972:ENST00000255325:exon10:c.A1041C:p.K347N,ENSG00000132972:ENST00000381921:exon10:c.A1038C:p.K346N NA NA 13q12.12 NA NA NA NA rs1451568 0.15 0.15 0.168 0.157348 0.163 0.001 0.1225 0.3411 0.089 0.17 NA 0.11 0.33 0.1499 0.33 0.26 T 0.275 B 0.067 B 0.059 N 1.000 P 0.55 N 3.43 T -0.919 T 0.000 T 0.022 -0.274 2.686 -0.125 0.416 0.331 0.835 -0.274285 NA 0.16 0.15907 0.325011 NA 0.152 NA 6.8613634 974 11 613297 613297 T G exonic IRF7 NA synonymous SNV IRF7:NM_004031:exon7:c.A1185C:p.G395G,IRF7:NM_004029:exon8:c.A1059C:p.G353G,IRF7:NM_001572:exon9:c.A1146C:p.G382G exonic ENSG00000185507 NA synonymous SNV ENSG00000185507:ENST00000348655:exon7:c.A1059C:p.G353G,ENSG00000185507:ENST00000397562:exon7:c.A267C:p.G89G,ENSG00000185507:ENST00000397566:exon7:c.A1185C:p.G395G,ENSG00000185507:ENST00000330243:exon8:c.A1185C:p.G395G,ENSG00000185507:ENST00000397570:exon8:c.A1059C:p.G353G,ENSG00000185507:ENST00000525445:exon8:c.A828C:p.G276G,ENSG00000185507:ENST00000397574:exon9:c.A1146C:p.G382G NA NA 11p15.5 NA Name=Pol2,Pol2-4H8,BCL3 Name=2 NA rs1061505 0.3 0.3 0.28 0.298522 0.2793 0.0466 0.3285 0.5893 0.1636 0.28 0.04 0.38 0.58 0.2556 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.045759 NA NA 0.271668 0.486308 NA 0.167 NA 6.8600986 974 19 15198292 15198292 C G exonic OR1I1 NA nonsynonymous SNV OR1I1:NM_001004713:exon1:c.C416G:p.P139R exonic ENSG00000094661 NA nonsynonymous SNV ENSG00000094661:ENST00000209540:exon1:c.C416G:p.P139R NA NA 19p13.12 Score=729;Name=V$SEF1_C Name=NRSF NA NA rs8104843 0.67 0.67 0.638 0.671725 0.829 0.622 0.7723 0.3767 0.8885 0.83 0.61 0.78 0.38 0.8009 0.84 1 T 0.0 B 0.0 B 0.412 N 1.000 P -1.77 N 1.5 T -1.007 T 0.000 T 0.034 -3.041 0.001 -1.19 -0.498 -0.900 5.881 -3.041142 NA 0.84 0.843372 0.438039 NA 0.652 NA 6.8600614 974 1 201355522 201355522 T C exonic LAD1 NA nonsynonymous SNV LAD1:NM_005558:exon3:c.A967G:p.K323E exonic ENSG00000159166 NA nonsynonymous SNV ENSG00000159166:ENST00000367313:exon3:c.A1009G:p.K337E,ENSG00000159166:ENST00000391967:exon3:c.A967G:p.K323E NA NA 1q32.1 NA NA NA NA rs4128458 0.56 0.56 0.568 0.553115 0.4612 0.5188 0.3847 0.8775 0.364 0.46 0.49 0.42 0.89 0.5229 0.89 1 T 0.0 B 0.0 B 0.902 N 1.000 P -1.61 N 2.88 T -1.015 T 0.000 T 0.015 -0.69 1.003 1.65 0.206 1.124 6.814 -0.690442 NA 1 0.489419 0.802135 NA 0.616 NA 6.8598144 974 1 171755170 171755170 G A exonic METTL13 NA synonymous SNV METTL13:NM_001007239:exon3:c.G597A:p.S199S,METTL13:NM_014955:exon3:c.G807A:p.S269S,METTL13:NM_015935:exon3:c.G1065A:p.S355S exonic ENSG00000010165 NA synonymous SNV ENSG00000010165:ENST00000361735:exon3:c.G1065A:p.S355S,ENSG00000010165:ENST00000362019:exon3:c.G807A:p.S269S,ENSG00000010165:ENST00000367737:exon3:c.G597A:p.S199S,ENSG00000010165:ENST00000458517:exon4:c.G1062A:p.S354S NA NA 1q24.3 Score=769;Name=V$PAX5_02 NA Name=10 NA rs2232818 0.35 0.35 0.346 0.318091 0.2445 0.5238 0.2911 0.323 0.1943 0.24 0.53 0.3 0.34 0.2904 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.943429 NA NA 0.272209 0.3468 NA 0.304 NA 6.8595576 974 5 34824555 34824555 G T exonic RAI14 NA nonsynonymous SNV RAI14:NM_001145522:exon14:c.G2521T:p.A841S,RAI14:NM_001145523:exon14:c.G2584T:p.A862S,RAI14:NM_001145520:exon15:c.G2608T:p.A870S,RAI14:NM_015577:exon15:c.G2608T:p.A870S,RAI14:NM_001145521:exon16:c.G2608T:p.A870S,RAI14:NM_001145525:exon17:c.G2617T:p.A873S exonic ENSG00000039560 NA nonsynonymous SNV ENSG00000039560:ENST00000397449:exon14:c.G2587T:p.A863S,ENSG00000039560:ENST00000506376:exon14:c.G2584T:p.A862S,ENSG00000039560:ENST00000512629:exon14:c.G2521T:p.A841S,ENSG00000039560:ENST00000265109:exon15:c.G2608T:p.A870S,ENSG00000039560:ENST00000428746:exon15:c.G2608T:p.A870S,ENSG00000039560:ENST00000503673:exon16:c.G2608T:p.A870S,ENSG00000039560:ENST00000515799:exon17:c.G2617T:p.A873S NA NA 5p13.2 NA NA NA NA rs1048944 0.42 0.42 0.41 0.436502 0.4891 0.369 0.5879 0.2859 0.5481 0.49 0.35 0.59 0.3 0.4919 0.59 0.7 T 0.0 B 0.0 B . . 1.000 P -1.27 N 2.02 T -0.959 T 0.000 T 0.037 1.122 9.574 4.43 0.385 0.620 8.811 1.121851 NA 1 0.492897 0.314773 NA 0.449 NA 6.8594364 974 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$AP4_01 NA NA NA rs4822021 0.24 0.24 0.197 0.259185 0.2624 0.0754 0.5447 0.1657 0.3691 0.26 0.08 0.54 0.18 0.2888 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.03326 NA NA 0.256163 0.1936 NA 0.297 NA 6.8593036 974 16 70190401 70190401 C T exonic PDPR NA synonymous SNV PDPR:NM_017990:exon19:c.C2259T:p.D753D exonic ENSG00000090857 NA synonymous SNV ENSG00000090857:ENST00000563930:exon5:c.C333T:p.D111D,ENSG00000090857:ENST00000567046:exon5:c.C333T:p.D111D,ENSG00000090857:ENST00000569042:exon5:c.C408T:p.D136D,ENSG00000090857:ENST00000542659:exon6:c.C294T:p.D98D,ENSG00000090857:ENST00000398122:exon17:c.C1959T:p.D653D,ENSG00000090857:ENST00000288050:exon19:c.C2259T:p.D753D,ENSG00000090857:ENST00000568530:exon19:c.C2259T:p.D753D Score=500;Name=lod=144 NA 16q22.1 Score=791;Name=V$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 974 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 974 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 974 11 69934085 69934085 G A exonic ANO1 NA synonymous SNV ANO1:NM_018043:exon2:c.G336A:p.S112S exonic ENSG00000131620 NA synonymous SNV ENSG00000131620:ENST00000316296:exon2:c.G252A:p.S84S,ENSG00000131620:ENST00000355303:exon2:c.G336A:p.S112S,ENSG00000131620:ENST00000531604:exon2:c.G336A:p.S112S,ENSG00000131620:ENST00000538023:exon2:c.G336A:p.S112S NA NA 11q13.3 NA Name=Rad21,CTCF,CTCF_(SC-5916) Name=3 NA rs10898112 0.2 0.2 0.187 0.199481 0.2654 0.0268 0.2911 0.2943 0.1166 0.25 0.03 0.26 0.28 0.2978 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.12289 NA NA 0.246789 0.24494 NA 0.014 NA 6.8566776 974 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 975 10 115411598 115411598 C A exonic NRAP NA synonymous SNV NRAP:NM_001261463:exon7:c.G639T:p.L213L,NRAP:NM_006175:exon7:c.G639T:p.L213L,NRAP:NM_198060:exon7:c.G639T:p.L213L exonic ENSG00000197893 NA synonymous SNV ENSG00000197893:ENST00000359988:exon7:c.G639T:p.L213L,ENSG00000197893:ENST00000360478:exon7:c.G639T:p.L213L,ENSG00000197893:ENST00000369358:exon7:c.G639T:p.L213L,ENSG00000197893:ENST00000369360:exon7:c.G639T:p.L213L Score=369;Name=lod=42 NA 10q25.3 Score=782;Name=V$PAX5_02 NA NA NA rs4918861 0.27 0.27 0.264 0.264577 0.2684 0.2163 0.2248 0.3306 0.2495 0.28 0.24 0.21 0.32 0.2658 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088279 NA NA 0.277791 0.342941 NA 0.261 NA 6.8546756 975 9 133936571 133936571 C G exonic LAMC3 NA nonsynonymous SNV LAMC3:NM_006059:exon13:c.C2308G:p.R770G exonic ENSG00000050555 NA nonsynonymous SNV ENSG00000050555:ENST00000361069:exon13:c.C2308G:p.R770G Score=497;Name=lod=140 NA 9q34.12 NA NA NA NA rs3739510 0.77 0.77 0.797 0.786741 0.8459 0.5536 0.6859 0.975 0.7832 0.82 0.54 0.73 0.97 0.8073 0.97 0.5 T 0.0 B 0.003 B 0.008 N 1.000 P -1.62 N 0.05 T -1.001 T 0.000 T 0.021 -0.415 2.062 -0.33 -0.808 -0.712 7.284 -0.415078 NA 0.85 0.825657 0.942124 NA 0.92 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117463.2;CLNDSDB=.;CLNDSDBID=. 6.8544764 975 14 96922752 96922752 C G exonic AK7 NA nonsynonymous SNV AK7:NM_152327:exon11:c.C1167G:p.N389K exonic ENSG00000140057 NA nonsynonymous SNV ENSG00000140057:ENST00000267584:exon11:c.C1167G:p.N389K Score=425;Name=lod=71 NA 14q32.2 NA NA Name=13 NA rs2369679 0.88 0.88 0.9 0.884585 0.8091 0.9524 0.8069 0.9735 0.8272 0.79 0.95 0.81 0.96 0.8384 0.96 1 T 0.0 B 0.001 B 0.000 N 0.000 P -1.49 N 1.45 T -1.002 T 0.000 T 0.061 -2.163 0.005 -0.452 -0.445 -0.055 6.175 -2.162887 NA 1 0.831628 0.946664 NA 0.833 NA 6.8542054 975 6 87994015 87994015 A G exonic GJB7 NA nonsynonymous SNV GJB7:NM_198568:exon3:c.T616C:p.F206L exonic ENSG00000164411 NA nonsynonymous SNV ENSG00000164411:ENST00000296882:exon2:c.T616C:p.F206L,ENSG00000164411:ENST00000525899:exon3:c.T616C:p.F206L NA NA 6q14.3 NA NA NA NA rs6934603 0.55 0.55 0.527 0.584665 0.4672 0.6002 0.6628 0.59 0.6268 0.48 0.57 0.66 0.58 0.5265 0.66 0.45 T 0.0 B 0.0 B 0.959 N 1.000 P -0.585 N -4.37 D -0.661 T 0.432 T 0.03 -1.513 0.016 0.619 -0.137 0.770 5.976 -1.512643 NA 0.73 0.486279 0.585338 NA 0.406 NA 6.8533544 975 12 69082805 69082805 G A exonic NUP107 NA synonymous SNV NUP107:NM_020401:exon2:c.G72A:p.R24R exonic ENSG00000111581 NA synonymous SNV ENSG00000111581:ENST00000229179:exon2:c.G72A:p.R24R,ENSG00000111581:ENST00000535718:exon2:c.G72A:p.R24R Score=530;Name=lod=190 NA 12q15 Score=782;Name=V$STAT3_01 NA NA NA rs2259588 0.23 0.23 0.211 0.220647 0.2903 0.3065 0.2983 0.0582 0.2249 0.29 0.28 0.28 0.07 0.2536 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.584189 1.584189 NA 0.27 0.091693 NA 0.152 NA 6.8527666 975 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 975 19 55530035 55530035 C T exonic GP6 NA nonsynonymous SNV GP6:NM_001256017:exon5:c.G655A:p.E219K,GP6:NM_001083899:exon6:c.G709A:p.E237K,GP6:NM_016363:exon6:c.G709A:p.E237K exonic ENSG00000088053 NA nonsynonymous SNV ENSG00000088053:ENST00000333884:exon5:c.G655A:p.E219K,ENSG00000088053:ENST00000310373:exon6:c.G709A:p.E237K,ENSG00000088053:ENST00000417454:exon6:c.G709A:p.E237K NA NA 19q13.42 NA Name=Pol2-4H8 NA NA rs1654416 0.78 0.78 0.755 0.74361 0.8479 0.8105 0.8329 0.5908 0.7106 0.84 0.82 0.86 0.6 0.8008 0.86 0.27 T 0.01 B 0.002 B . . 1.000 P -1.15 N 7.13 T -1.052 T 0.000 T 0.055 -0.746 0.83 -1.81 -1.028 -0.149 5.423 -0.74567 NA 0.57 0.832851 0.624616 NA 0.725 NA 6.8517824 975 7 31592733 31592733 C A exonic CCDC129 NA nonsynonymous SNV CCDC129:NM_194300:exon1:c.C95A:p.A32D,CCDC129:NM_001257968:exon2:c.C173A:p.A58D,CCDC129:NM_001257967:exon3:c.C125A:p.A42D exonic ENSG00000180347 NA nonsynonymous SNV ENSG00000180347:ENST00000319386:exon2:c.C95A:p.A32D,ENSG00000180347:ENST00000407970:exon2:c.C95A:p.A32D,ENSG00000180347:ENST00000409717:exon2:c.C95A:p.A32D,ENSG00000180347:ENST00000451887:exon2:c.C173A:p.A58D,ENSG00000180347:ENST00000454513:exon2:c.C95A:p.A32D,ENSG00000180347:ENST00000456011:exon2:c.C95A:p.A32D NA NA 7p14.3 NA NA NA NA rs7811042 0.52 0.52 0.527 0.503195 0.674 0.4544 0.5317 0.3911 0.5092 0.68 0.42 0.53 0.36 0.6281 0.68 0.08 T 0.958 D 0.483 P 0.469 N 1.000 P 1.67 L 2.39 T -0.934 T 0.000 T 0.234 1.712 11.68 0.365 0.151 0.074 7.193 1.711524 1.711524 0.13 0.679535 0.432819 NA 0.529 NA 6.8516984 975 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 975 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 975 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 975 1 225607144 225607144 C T exonic LBR NA nonsynonymous SNV LBR:NM_002296:exon5:c.G461A:p.S154N,LBR:NM_194442:exon5:c.G461A:p.S154N exonic ENSG00000143815 NA nonsynonymous SNV ENSG00000143815:ENST00000272163:exon5:c.G461A:p.S154N,ENSG00000143815:ENST00000338179:exon5:c.G461A:p.S154N,ENSG00000143815:ENST00000425080:exon5:c.G461A:p.S154N NA NA 1q42.12 NA NA NA NA rs2230419 0.78 0.78 0.76 0.71226 0.8419 0.9633 0.8602 0.3631 0.6871 0.84 0.97 0.85 0.41 0.8009 0.97 0.53 T 0.014 B 0.01 B 0.904 N 1.000 P 0 N 0.55 T -1.020 T 0.000 T 0.05 -0.733 0.869 -7.95 -2.550 -0.188 5.073 -0.732544 NA 0.44 0.839651 0.437131 NA 0.696 NA 6.8508824 975 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 975 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 975 15 41991315 41991315 A T exonic MGA NA nonsynonymous SNV MGA:NM_001080541:exon5:c.A2146T:p.T716S,MGA:NM_001164273:exon5:c.A2146T:p.T716S exonic ENSG00000174197 NA nonsynonymous SNV ENSG00000174197:ENST00000566586:exon4:c.A2146T:p.T716S,ENSG00000174197:ENST00000570161:exon4:c.A2146T:p.T716S,ENSG00000174197:ENST00000219905:exon5:c.A2146T:p.T716S,ENSG00000174197:ENST00000389936:exon5:c.A2146T:p.T716S,ENSG00000174197:ENST00000545763:exon5:c.A2146T:p.T716S,ENSG00000174197:ENST00000563576:exon5:c.A2146T:p.T716S,ENSG00000174197:ENST00000566718:exon5:c.A2146T:p.T716S Score=579;Name=lod=300 NA 15q15.1 NA NA Name=49 NA rs2178004 0.77 0.77 0.751 0.759385 0.835 0.8909 0.8256 0.5083 0.8384 0.84 0.88 0.81 0.5 0.8197 0.88 1 T 0.0 B 0.002 B 0.000 N 1.000 P . . 1.08 T -0.944 T 0.000 T 0.043 -0.53 1.588 -0.188 -0.227 0.756 1.668 -0.52988 NA 1 0.828389 0.563419 NA 0.688 NA 6.8502444 975 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 975 1 78184325 78184325 A G exonic USP33 NA synonymous SNV USP33:NM_201624:exon16:c.T1693C:p.L565L,USP33:NM_015017:exon17:c.T1786C:p.L596L,USP33:NM_201626:exon17:c.T1762C:p.L588L exonic ENSG00000077254 NA synonymous SNV ENSG00000077254:ENST00000357428:exon16:c.T1786C:p.L596L,ENSG00000077254:ENST00000370794:exon16:c.T1693C:p.L565L,ENSG00000077254:ENST00000370792:exon17:c.T1762C:p.L588L,ENSG00000077254:ENST00000370793:exon17:c.T1786C:p.L596L Score=575;Name=lod=290 NA 1p31.1 Score=910;Name=V$CEBPB_01 NA NA NA rs12142671 0.29 0.29 0.311 0.355631 0.2744 0.2698 0.1988 0.4433 0.5204 0.28 0.29 0.19 0.4 0.2947 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.820382 1.820382 NA 0.248019 0.401136 NA 0.297 NA 6.8495476 975 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 975 11 44089352 44089352 G A exonic ACCS NA nonsynonymous SNV ACCS:NM_001127219:exon2:c.G175A:p.D59N,ACCS:NM_032592:exon2:c.G175A:p.D59N exonic ENSG00000110455 NA nonsynonymous SNV ENSG00000110455:ENST00000263776:exon2:c.G175A:p.D59N,ENSG00000110455:ENST00000432284:exon2:c.G175A:p.D59N,ENSG00000110455:ENST00000524990:exon2:c.G175A:p.D59N,ENSG00000110455:ENST00000533404:exon2:c.G175A:p.D59N NA NA 11p11.2 NA NA NA NA rs33952257 0.25 0.25 0.276 0.267372 0.1581 0.3085 0.098 0.4818 0.1677 0.15 0.31 0.1 0.44 0.1831 0.44 . . 0.023 B 0.012 B 0.388 N 1.000 P -0.29 N 0.98 T -0.978 T 0.000 T 0.044 0.892 8.622 -0.447 0.019 0.427 8.032 0.891541 NA 0.4 0.14593 0.428734 NA 0.333 NA 6.8462034 975 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 976 11 20623007 20623007 C T exonic SLC6A5 NA synonymous SNV SLC6A5:NM_004211:exon2:c.C336T:p.S112S exonic ENSG00000165970 NA synonymous SNV ENSG00000165970:ENST00000298923:exon2:c.C336T:p.S112S,ENSG00000165970:ENST00000525748:exon2:c.C336T:p.S112S NA NA 11p15.1 NA Name=Rad21 Name=4 NA rs7109418 0.18 0.18 0.169 0.190296 0.2853 0.005 0.1556 0.2534 0.2229 0.3 0.0017 0.19 0.19 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 -1.106064 NA NA 0.274145 0.250455 NA 0.08 NA 6.8448216 976 3 7620382 7620382 C T exonic GRM7 NA synonymous SNV GRM7:NM_000844:exon8:c.C1789T:p.L597L,GRM7:NM_181874:exon8:c.C1789T:p.L597L exonic ENSG00000196277 NA synonymous SNV ENSG00000196277:ENST00000357716:exon8:c.C1789T:p.L597L,ENSG00000196277:ENST00000389335:exon8:c.C1789T:p.L597L,ENSG00000196277:ENST00000389336:exon8:c.C1789T:p.L597L,ENSG00000196277:ENST00000402647:exon8:c.C1789T:p.L597L,ENSG00000196277:ENST00000403881:exon8:c.C1789T:p.L597L,ENSG00000196277:ENST00000440923:exon8:c.C1789T:p.L597L,ENSG00000196277:ENST00000467425:exon8:c.C1789T:p.L597L,ENSG00000196277:ENST00000486284:exon8:c.C1789T:p.L597L Score=437;Name=lod=80 NA 3p26.1 Score=829;Name=V$COMP1_01 NA NA NA rs7614915 0.2 0.2 0.17 0.170327 0.2932 0.1379 0.2565 0.0552 0.1718 0.3 0.14 0.27 0.05 0.2504 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.564276 NA NA 0.278721 0.084203 NA 0.138 NA 6.8443456 976 20 14306896 14306896 G A exonic FLRT3 NA synonymous SNV FLRT3:NM_013281:exon2:c.C1257T:p.T419T,FLRT3:NM_198391:exon3:c.C1257T:p.T419T exonic ENSG00000125848 NA synonymous SNV ENSG00000125848:ENST00000378053:exon2:c.C1257T:p.T419T,ENSG00000125848:ENST00000341420:exon3:c.C1257T:p.T419T Score=701;Name=lod=938 NA 20p12.1 NA NA Name=3 NA rs6042672 0.31 0.31 0.319 0.34365 0.2763 0.373 0.2089 0.4334 0.3569 0.27 0.32 0.24 0.43 0.2801 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.72379 NA NA 0.266047 0.421698 NA 0.319 NA 6.8442196 976 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 976 7 56007576 56007576 C T exonic ZNF713 NA synonymous SNV ZNF713:NM_182633:exon4:c.C1170T:p.C390C exonic ENSG00000178665 NA synonymous SNV ENSG00000178665:ENST00000429591:exon4:c.C1170T:p.C390C Score=407;Name=lod=60 NA 7p11.2 NA Name=SETDB1,ZNF274,KAP1 NA NA rs34016595 0.31 0.31 0.287 0.34405 0.2753 0.2976 0.3256 0.4009 0.3988 0.27 0.31 0.32 0.37 0.2905 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.495323 NA NA 0.259535 0.382887 NA 0.275 NA 6.8413316 976 6 7229619 7229619 G A exonic RREB1 NA synonymous SNV RREB1:NM_001003698:exon10:c.G1287A:p.A429A,RREB1:NM_001003699:exon10:c.G1287A:p.A429A,RREB1:NM_001003700:exon10:c.G1287A:p.A429A,RREB1:NM_001168344:exon10:c.G1287A:p.A429A exonic ENSG00000124782 NA synonymous SNV ENSG00000124782:ENST00000334984:exon10:c.G1287A:p.A429A,ENSG00000124782:ENST00000349384:exon10:c.G1287A:p.A429A,ENSG00000124782:ENST00000379933:exon10:c.G1287A:p.A429A,ENSG00000124782:ENST00000379938:exon10:c.G1287A:p.A429A,ENSG00000124782:ENST00000483150:exon11:c.G1287A:p.A429A NA NA 6p24.3 Score=708;Name=V$LUN1_01 NA Name=5 NA rs12192672 0.23 0.23 0.241 0.203474 0.3082 0.0417 0.1715 0.3351 0.1074 0.31 0.05 0.19 0.36 0.2394 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.602204 NA NA 0.277907 0.315706 NA 0.232 NA 6.8411596 976 19 23928102 23928102 C G exonic ZNF681 NA nonsynonymous SNV ZNF681:NM_138286:exon4:c.G250C:p.D84H exonic ENSG00000196172 NA nonsynonymous SNV ENSG00000196172:ENST00000395385:exon3:c.G43C:p.D15H,ENSG00000196172:ENST00000528059:exon3:c.G43C:p.D15H,ENSG00000196172:ENST00000531570:exon3:c.G43C:p.D15H,ENSG00000196172:ENST00000402377:exon4:c.G250C:p.D84H Score=317;Name=lod=26 NA 19p12 NA NA NA NA rs7248674 0.98 0.98 0.98 0.977236 1 1 0.9942 0.9175 0.999 1 1 0.99 0.91 0.9932 1 0.11 T 0.633 P 0.38 B . . 0.998 P 2.08 M 6.26 T -1.032 T 0.000 T 0.26 1.42 10.68 0.86 0.300 0.185 4.938 1.419622 1.419622 0.02 0.999884 0.9275 NA 0.949 NA 6.8402494 976 X 11157535 11157535 G C exonic ARHGAP6 NA nonsynonymous SNV ARHGAP6:NM_013423:exon13:c.C1764G:p.D588E,ARHGAP6:NM_013427:exon13:c.C2373G:p.D791E exonic ENSG00000047648 NA nonsynonymous SNV ENSG00000047648:ENST00000303025:exon13:c.C1764G:p.D588E,ENSG00000047648:ENST00000337414:exon13:c.C2373G:p.D791E,ENSG00000047648:ENST00000380736:exon13:c.C1764G:p.D588E NA NA Xp22.2 NA NA NA NA rs1009758 0.15 0.15 0.14706 NA NA NA NA NA NA 0.23 0.02 0.16 0.18 0.2712 0.23 0.42 T 0.004 B 0.003 B 0.007 N 0.065 P 0.975 L 1.89 T -0.962 T 0.000 T 0.049 0.783 8.131 1.18 -0.205 0.317 4.052 0.783093 NA 0.27 0.221967 0.187533 ID=COSM456518;OCCURENCE=1(breast) 0.196 NA 6.8401664 976 5 102345546 102345546 A C exonic PAM NA synonymous SNV PAM:NM_138821:exon19:c.A1986C:p.I662I,PAM:NM_000919:exon20:c.A2307C:p.I769I,PAM:NM_001177306:exon20:c.A2307C:p.I769I,PAM:NM_138766:exon20:c.A2307C:p.I769I,PAM:NM_138822:exon20:c.A2307C:p.I769I exonic ENSG00000145730 NA synonymous SNV ENSG00000145730:ENST00000274392:exon19:c.A2016C:p.I672I,ENSG00000145730:ENST00000348126:exon19:c.A1986C:p.I662I,ENSG00000145730:ENST00000304400:exon20:c.A2307C:p.I769I,ENSG00000145730:ENST00000346918:exon20:c.A2307C:p.I769I,ENSG00000145730:ENST00000379787:exon20:c.A447C:p.I149I,ENSG00000145730:ENST00000438793:exon20:c.A2307C:p.I769I,ENSG00000145730:ENST00000455264:exon20:c.A2307C:p.I769I Score=489;Name=lod=129 NA 5q21.1 NA NA NA NA rs2230457 0.27 0.27 0.274 0.234824 0.2763 0.4335 0.2277 0.112 0.1585 0.28 0.42 0.25 0.1 0.2598 0.42 . . . . . . . . 0.000 P . . . . . . . . . 0.531 6.874 0.673 -0.097 0.738 1.7 0.530566 NA NA 0.290698 0.145937 NA 0.239 NA 6.8398686 976 12 662838 662838 T C exonic B4GALNT3 NA synonymous SNV B4GALNT3:NM_173593:exon14:c.T1749C:p.P583P exonic ENSG00000139044 NA synonymous SNV ENSG00000139044:ENST00000322843:exon12:c.T1458C:p.P486P,ENSG00000139044:ENST00000266383:exon14:c.T1749C:p.P583P NA NA 12p13.33 NA Name=Pol2,ELF1_(SC-631),GABP Name=17 NA rs1056008 0.26 0.26 0.269 0.284345 0.2942 0.1974 0.1945 0.3805 0.2975 0.28 0.17 0.23 0.38 0.2689 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172351 NA NA 0.263789 0.374262 NA 0.254 NA 6.8397776 976 5 172196711 172196711 G T exonic DUSP1 NA synonymous SNV DUSP1:NM_004417:exon3:c.C600A:p.I200I exonic ENSG00000120129 NA synonymous SNV ENSG00000120129:ENST00000239223:exon3:c.C600A:p.I200I Score=629;Name=lod=480 NA 5q35.1 Score=774;Name=V$PPARG_03 Name=HEY1,Pol2(phosphoS2),Pol2 Name=120 NA rs2431663 0.88 0.88 0.843 0.851438 0.9423 0.999 0.9467 0.5166 0.9908 0.94 1 0.96 0.57 0.9302 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.17506 NA NA 0.955581 0.587835 NA 0.848 NA 6.8385856 976 5 82835724 82835724 T A exonic VCAN NA nonsynonymous SNV VCAN:NM_001164097:exon7:c.T3941A:p.F1314Y,VCAN:NM_004385:exon8:c.T6902A:p.F2301Y exonic ENSG00000038427 NA nonsynonymous SNV ENSG00000038427:ENST00000343200:exon7:c.T3941A:p.F1314Y,ENSG00000038427:ENST00000265077:exon8:c.T6902A:p.F2301Y NA NA 5q14.3 NA NA NA NA rs160278 0.48 0.48 0.494 0.46845 0.5199 0.3919 0.5231 0.5091 0.4008 0.52 0.42 0.53 0.48 0.4814 0.53 1 T 0.0 B 0.0 B 0.701 N 1.000 P 0.14 N 2.33 T -0.933 T 0.000 T 0.047 -2.28 0.004 3.61 0.527 0.374 6.622 -2.279707 NA 1 0.493488 0.499319 NA 0.435 NA 6.8385454 976 10 33510663 33510663 G A exonic NRP1 NA synonymous SNV NRP1:NM_001024628:exon8:c.C1266T:p.Y422Y,NRP1:NM_001024629:exon8:c.C1266T:p.Y422Y,NRP1:NM_001244972:exon8:c.C1266T:p.Y422Y,NRP1:NM_001244973:exon8:c.C1266T:p.Y422Y,NRP1:NM_003873:exon8:c.C1266T:p.Y422Y exonic ENSG00000099250 NA synonymous SNV ENSG00000099250:ENST00000432372:exon2:c.C285T:p.Y95Y,ENSG00000099250:ENST00000374875:exon7:c.C723T:p.Y241Y,ENSG00000099250:ENST00000374816:exon8:c.C1266T:p.Y422Y,ENSG00000099250:ENST00000374821:exon8:c.C1266T:p.Y422Y,ENSG00000099250:ENST00000374822:exon8:c.C1266T:p.Y422Y,ENSG00000099250:ENST00000374823:exon8:c.C1266T:p.Y422Y,ENSG00000099250:ENST00000374867:exon8:c.C1266T:p.Y422Y,ENSG00000099250:ENST00000395995:exon8:c.C1266T:p.Y422Y,ENSG00000099250:ENST00000265371:exon9:c.C1266T:p.Y422Y Score=511;Name=lod=159 NA 10p11.22 Score=824;Name=V$MIF1_01 NA NA NA rs2229935 0.35 0.35 0.329 0.359026 0.2485 0.623 0.4337 0.1793 0.3906 0.23 0.66 0.37 0.17 0.3142 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.695106 NA NA 0.265698 0.208125 NA 0.341 NA 6.8382686 976 10 33510768 33510768 G A exonic NRP1 NA synonymous SNV NRP1:NM_001024628:exon8:c.C1161T:p.P387P,NRP1:NM_001024629:exon8:c.C1161T:p.P387P,NRP1:NM_001244972:exon8:c.C1161T:p.P387P,NRP1:NM_001244973:exon8:c.C1161T:p.P387P,NRP1:NM_003873:exon8:c.C1161T:p.P387P exonic ENSG00000099250 NA synonymous SNV ENSG00000099250:ENST00000432372:exon2:c.C180T:p.P60P,ENSG00000099250:ENST00000374875:exon7:c.C618T:p.P206P,ENSG00000099250:ENST00000374816:exon8:c.C1161T:p.P387P,ENSG00000099250:ENST00000374821:exon8:c.C1161T:p.P387P,ENSG00000099250:ENST00000374822:exon8:c.C1161T:p.P387P,ENSG00000099250:ENST00000374823:exon8:c.C1161T:p.P387P,ENSG00000099250:ENST00000374867:exon8:c.C1161T:p.P387P,ENSG00000099250:ENST00000395995:exon8:c.C1161T:p.P387P,ENSG00000099250:ENST00000265371:exon9:c.C1161T:p.P387P Score=606;Name=lod=388 NA 10p11.22 Score=891;Name=V$TAL1ALPHAE47_01 NA NA NA rs2229934 0.35 0.35 0.326 0.359225 0.2485 0.623 0.4337 0.18 0.3906 0.23 0.66 0.37 0.17 0.3142 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 1.068248 NA NA 0.265698 0.208125 NA 0.341 NA 6.8382686 976 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$E2F_02 NA NA NA rs2717851 0.28 0.28 0.253 0.278355 0.2773 0.1468 0.3184 0.3722 0.2597 0.27 0.14 0.33 0.41 0.2702 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.851353 NA NA 0.28186 0.358829 NA 0.304 NA 6.8373066 976 22 21327589 21327589 C T exonic AIFM3 NA nonsynonymous SNV AIFM3:NM_001146288:exon3:c.C43T:p.P15S exonic ENSG00000183773 NA nonsynonymous SNV ENSG00000183773:ENST00000405089:exon3:c.C43T:p.P15S NA NA 22q11.21 NA NA NA NA rs178264 0.24 0.24 0.226 0.218051 0.1113 0.4306 0.2233 0.1551 0.1902 0.14 0.48 0.2 0.15 0.264 0.48 0.34 T 0.0 B 0.0 B . . 1.000 P . . 0.93 T -0.904 T 0.000 T 0.012 0.863 8.495 -0.471 0.089 0.175 4.804 0.862825 NA 0.31 0.121028 0.147368 NA 0.116 NA 6.8370054 976 5 70837295 70837295 A C exonic BDP1 NA nonsynonymous SNV BDP1:NM_018429:exon29:c.A6037C:p.I2013L exonic ENSG00000145734 NA nonsynonymous SNV ENSG00000145734:ENST00000525844:exon3:c.A103C:p.I35L,ENSG00000145734:ENST00000358731:exon29:c.A6037C:p.I2013L,ENSG00000145734:ENST00000380675:exon29:c.A445C:p.I149L NA NA 5q13.2 Score=791;Name=V$OCT1_04 NA NA NA rs6453014 0.82 0.82 0.836 0.822684 0.829 0.8899 0.8689 0.7179 0.8558 0.83 0.91 0.83 0.72 0.8353 0.91 1 T 0.0 B 0.0 B 0.013 N 1.000 P -1.995 N 3.35 T -1.030 T 0.000 T 0.302 -2.045 0.006 2.57 -0.039 0.298 3.357 -2.044744 NA 1 0.832392 0.739359 NA 0.775 NA 6.8366414 976 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 976 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 976 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=CTCF,TCF12 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 976 2 228113175 228113175 A G exonic COL4A3 NA nonsynonymous SNV COL4A3:NM_000091:exon9:c.A485G:p.E162G exonic ENSG00000169031 NA nonsynonymous SNV ENSG00000169031:ENST00000396578:exon9:c.A485G:p.E162G Score=333;Name=lod=30 NA 2q36.3 NA NA NA NA rs6436669 0.81 0.81 0.781 0.796326 0.839 0.8978 0.8775 0.6021 0.8528 0.84 0.9 0.86 0.61 0.8304 0.9 0.71 T 0.019 B 0.011 B 0.328 N 1.000 P 0.695 N -3.17 D -0.962 T 0.000 T 0.05 -1.515 0.016 1.24 0.068 0.210 8.831 -1.514832 NA 0.23 0.828025 0.640066 NA 0.71 NA 6.8359084 976 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$BRACH_01 NA NA NA rs2232073 0.46 0.46 0.027 0.457069 0.3797 0.6409 0.4784 0.4554 0.3344 0.35 0.64 0.45 0.41 0.3978 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069065 NA NA 0.053953 0.089197 NA NA NA 6.8352136 977 7 100552117 100552117 G T intergenic ACHE,MUC12 dist=58576;dist=60787 NA NA exonic ENSG00000169894 NA nonsynonymous SNV ENSG00000169894:ENST00000319509:exon1:c.G868T:p.A290S NA NA 7q22.1 NA NA NA NA rs62483699 NA NA NA 0.000399361 NA NA NA 0.0015 NA NA NA NA NA 0.4996 0.4 1 T 0.917 P 0.292 B . . 0.627 N 0 N 3.2 T -1.066 T 0.008 T 0.16 -0.776 0.743 1.5 1.115 -0.427 3.879 -0.775751 NA 0.67 NA NA NA 0.384 NA 6.8337334 977 19 58806083 58806083 T C exonic ZNF8 NA synonymous SNV ZNF8:NM_021089:exon4:c.T909C:p.H303H exonic ENSG00000083842 NA synonymous SNV ENSG00000083842:ENST00000196548:exon4:c.T909C:p.H303H Score=420;Name=lod=68 NA 19q13.43 NA Name=KAP1,SETDB1 NA NA rs260471 0.36 0.36 0.347 0.376997 0.2445 0.499 0.3271 0.4523 0.3211 0.24 0.51 0.31 0.42 0.3102 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121921 NA NA 0.278372 0.419655 NA 0.29 NA 6.8335946 977 6 78172992 78172992 G A exonic HTR1B NA synonymous SNV HTR1B:NM_000863:exon1:c.C129T:p.S43S exonic ENSG00000135312 NA synonymous SNV ENSG00000135312:ENST00000369947:exon1:c.C129T:p.S43S Score=371;Name=lod=43 NA 6q14.1 Score=888;Name=V$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 977 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 977 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 977 12 49087656 49087656 G C exonic CCNT1 NA synonymous SNV CCNT1:NM_001240:exon9:c.C1341G:p.P447P exonic ENSG00000129315 NA synonymous SNV ENSG00000129315:ENST00000261900:exon9:c.C1341G:p.P447P Score=529;Name=lod=188 NA 12q13.11 NA Name=SIRT6,eGFP-GATA2,CCNT2,GATA-2,GATA-1,Pol2-4H8 NA NA rs3013 0.13 0.13 0.129 0.123203 0.2744 0.004 0.121 0.0794 0.1513 0.27 0.0017 0.13 0.07 0.2355 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336803 NA NA 0.324884 0.104403 NA 0.196 NA 6.8318826 977 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 977 1 24785393 24785393 C T exonic NIPAL3 NA synonymous SNV NIPAL3:NM_020448:exon9:c.C789T:p.A263A exonic ENSG00000001461 NA synonymous SNV ENSG00000001461:ENST00000339255:exon9:c.C789T:p.A263A,ENSG00000001461:ENST00000374399:exon9:c.C789T:p.A263A,ENSG00000001461:ENST00000003912:exon10:c.C543T:p.A181A Score=445;Name=lod=86 NA 1p36.11 NA NA NA NA rs2272935 0.32 0.32 0.288 0.30631 0.2773 0.4534 0.4409 0.1589 0.2883 0.28 0.45 0.41 0.16 0.2959 0.45 . . . . . . . . 0.000 P . . . . -0.923 T 0.000 T . 3.098 16.35 1.62 0.366 0.530 1.499 3.098373 3.098373 0 0.261977 0.159782 NA 0.239 NA 6.8314896 977 10 95395364 95395364 C G exonic PDE6C NA synonymous SNV PDE6C:NM_006204:exon10:c.C1380G:p.T460T exonic ENSG00000095464 NA synonymous SNV ENSG00000095464:ENST00000371447:exon10:c.C1380G:p.T460T Score=361;Name=lod=39 NA 10q23.33 Score=737;Name=V$PAX4_04 NA NA NA rs3737228 0.28 0.28 0.232 0.235224 0.2922 0.3661 0.3199 0.1112 0.1493 0.29 0.37 0.34 0.1 0.2643 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.931384 NA NA 0.278837 0.132093 NA 0.254 NA 6.8313296 977 16 31336888 31336888 C T exonic ITGAM NA nonsynonymous SNV ITGAM:NM_000632:exon21:c.C2573T:p.A858V,ITGAM:NM_001145808:exon21:c.C2576T:p.A859V exonic ENSG00000169896 NA nonsynonymous SNV ENSG00000169896:ENST00000287497:exon21:c.C2573T:p.A858V,ENSG00000169896:ENST00000544665:exon21:c.C2576T:p.A859V NA NA 16p11.2 NA NA NA NA rs1143683 0.12 0.12 0.128 0.16254 0.1809 0.0278 0.1311 0.1906 0.2669 0.18 0.0017 0.13 0.16 0.1627 0.18 0.35 T 0.006 B 0.015 B . . 1.000 P 0.57 N 0.62 T -1.026 T 0.000 T 0.013 0.913 8.716 -1.51 0.007 -0.193 10.869 0.913114 NA 0.16 0.158829 0.17714 NA 0.123 NA 6.8309044 977 3 137787047 137787047 C T exonic DZIP1L NA nonsynonymous SNV DZIP1L:NM_173543:exon13:c.G1778A:p.R593H exonic ENSG00000158163 NA nonsynonymous SNV ENSG00000158163:ENST00000327532:exon13:c.G1778A:p.R593H NA NA 3q22.3 Score=923;Name=V$SP1_01 NA NA NA rs374045 0.67 0.67 0.637 0.628794 0.8608 0.626 0.7767 0.3094 0.7198 0.86 0.64 0.75 0.36 0.7718 0.87 0.3 T 0.033 B 0.007 B 0.593 N 1.000 P 1.43 L 1.12 T -1.022 T 0.000 T 0.031 1.673 11.55 2.16 0.268 0.080 6.686 1.673457 1.673457 0.19 0.870116 0.438039 ID=COSM1566241;OCCURENCE=1(large_intestine) 0.659 NA 6.8306174 977 12 7065635 7065635 T C exonic PTPN6 NA synonymous SNV PTPN6:NM_002831:exon9:c.T978C:p.G326G,PTPN6:NM_080548:exon9:c.T984C:p.G328G,PTPN6:NM_080549:exon9:c.T978C:p.G326G exonic ENSG00000111679 NA synonymous SNV ENSG00000111679:ENST00000447931:exon8:c.T861C:p.G287G,ENSG00000111679:ENST00000318974:exon9:c.T978C:p.G326G,ENSG00000111679:ENST00000399448:exon9:c.T984C:p.G328G,ENSG00000111679:ENST00000456013:exon9:c.T978C:p.G326G Score=542;Name=lod=213 NA 12p13.31 Score=795;Name=V$PAX5_01 Name=Pol2,PAX5-C20 Name=8 NA rs2110072 0.94 0.94 0.937 0.948682 0.9433 0.998 0.951 0.8782 0.9969 0.94 1 0.95 0.88 0.9499 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.436075 1.436075 NA 0.94323 0.878211 NA 0.935 NA 6.8302366 977 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 977 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=MafK_(SC-477),MafF_(M8194),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 977 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,ELF1_(SC-631),CTCF 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 977 16 58019396 58019396 G A exonic TEPP NA nonsynonymous SNV TEPP:NM_199046:exon6:c.G779A:p.S260N,TEPP:NM_199456:exon6:c.G698A:p.S233N exonic ENSG00000159648 NA nonsynonymous SNV ENSG00000159648:ENST00000290871:exon6:c.G779A:p.S260N,ENSG00000159648:ENST00000441824:exon6:c.G698A:p.S233N Score=504;Name=lod=149 NA 16q21 NA NA Name=4 NA rs9934227 0.77 0.77 0.801 0.783546 0.8559 0.5595 0.585 0.9486 0.8579 0.86 0.56 0.67 0.95 0.8002 0.95 1 T 0.0 B 0.0 B 0.001 N 1.000 P -2.56 N 1.08 T -0.982 T 0.000 T 0.013 0.171 4.918 1.54 0.085 0.593 7.896 0.170667 NA 1 0.848372 0.936533 NA 0.833 NA 6.8288614 977 14 59950690 59950690 A C exonic L3HYPDH NA synonymous SNV L3HYPDH:NM_144581:exon1:c.T345G:p.A115A exonic ENSG00000126790 NA synonymous SNV ENSG00000126790:ENST00000247194:exon1:c.T345G:p.A115A NA NA 14q23.1 NA Name=HEY1,HNF4G_(SC-6558),CTCF_(C-20),ZEB1_(SC-25388),TAF1,Znf143_(16618-1-AP),EBF1_(C-8),Pol2-4H8,CTCF_(SC-5916),HDAC2_(SC-6296),E2F6,E2F6_(H-50),CTCF,Pol2,FOXA1_(C-20),HA-E2F1,ZNF263,GR,CTCFL_(SC-98982),PAX5-N19,PAX5-C20,c-Myc Name=128 NA rs2296842 0.22 0.22 0.187 0.265176 0.2376 0.1825 0.3833 0.1861 0.4018 0.23 0.17 0.35 0.16 0.3774 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.490231 NA NA 0.222876 0.199953 ID=COSM433185;OCCURENCE=1(breast) 0.225 NA 6.8287906 977 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 977 9 732536 732536 T C exonic KANK1 NA nonsynonymous SNV KANK1:NM_153186:exon5:c.T2690C:p.I897T,KANK1:NM_015158:exon6:c.T3164C:p.I1055T,KANK1:NM_001256877:exon7:c.T3164C:p.I1055T,KANK1:NM_001256876:exon10:c.T3164C:p.I1055T exonic ENSG00000107104 NA nonsynonymous SNV ENSG00000107104:ENST00000382289:exon1:c.T95C:p.I32T,ENSG00000107104:ENST00000382293:exon5:c.T2690C:p.I897T,ENSG00000107104:ENST00000382297:exon6:c.T3164C:p.I1055T,ENSG00000107104:ENST00000382303:exon10:c.T3164C:p.I1055T NA NA 9p24.3 NA NA NA NA rs34832656 0.13 0.13 0.103 0.125998 0.174 0.004 0.2075 0.1929 0.0542 0.16 0.0035 0.21 0.17 0.1539 0.21 0.63 T 0.015 B 0.018 B 0.568 N 1.000 P 0.69 N 0.91 T -1.033 T 0.000 T 0.135 -0.941 0.359 0.228 0.080 0.214 0.363 -0.940718 NA 0.3 0.17686 0.186337 NA 0.152 NA 6.8285734 977 5 82833369 82833369 A G exonic VCAN NA nonsynonymous SNV VCAN:NM_001164097:exon7:c.A1586G:p.K529R,VCAN:NM_004385:exon8:c.A4547G:p.K1516R exonic ENSG00000038427 NA nonsynonymous SNV ENSG00000038427:ENST00000343200:exon7:c.A1586G:p.K529R,ENSG00000038427:ENST00000513960:exon7:c.A1586G:p.K529R,ENSG00000038427:ENST00000265077:exon8:c.A4547G:p.K1516R NA NA 5q14.3 NA NA NA NA rs309559 0.49 0.49 0.483 0.471046 0.5258 0.3919 0.5274 0.5113 0.4018 0.52 0.42 0.53 0.48 0.484 0.53 0.29 T 0.019 B 0.026 B 0.111 N 1.000 P 0 N 3.24 T -0.933 T 0.000 T 0.022 -1.033 0.215 2.79 0.852 0.289 9.256 -1.033169 NA 0.09 0.495116 0.505447 NA 0.449 NA 6.8284174 977 11 116692334 116692334 C T exonic APOA4 NA nonsynonymous SNV APOA4:NM_000482:exon3:c.G440A:p.S147N exonic ENSG00000110244 NA nonsynonymous SNV ENSG00000110244:ENST00000357780:exon3:c.G440A:p.S147N NA NA 11q23.3 NA NA NA NA rs5104 0.79 0.79 0.786 0.759185 0.826 0.6379 0.7565 0.8941 0.635 0.83 0.64 0.82 0.89 0.8089 0.89 0.87 T . . . . 0.992 N 1.000 P . . -0.63 T -1.020 T 0.000 T 0.004 -1.776 0.01 -7.01 -1.663 -0.297 9.137 -1.776224 NA 1 0.870112 0.880736 NA 0.797 NA 6.8283214 977 18 34205551 34205551 C T exonic FHOD3 NA synonymous SNV FHOD3:NM_025135:exon10:c.C1035T:p.S345S exonic ENSG00000134775 NA nonsynonymous SNV ENSG00000134775:ENST00000591635:exon6:c.C59T:p.A20V Score=510;Name=lod=158 NA 18q12.2 NA NA NA NA rs60414347 0.09 0.09 0.093 0.0872604 0.0447 0.2262 0.0331 0.0651 0.0562 0.04 0.21 0.03 0.08 0.0669 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.459009 1.459009 0 0.060377 0.07584 NA 0.087 NA 6.828023 977 11 64981472 64981472 G C exonic SLC22A20 NA synonymous SNV SLC22A20:NM_001004326:exon1:c.G129C:p.T43T ncRNA_exonic ENSG00000197847 NA NA NA Score=558;Name=lod=246 NA 11q13.1 NA Name=Pol2,c-Myc,Max Name=8 NA rs239258 0.37 0.37 0.37 0.346645 0.4553 0.3929 0.2939 0.233 0.3783 0.46 0.4 0.36 0.21 0.4338 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206047 NA NA 0.449599 0.217447 ID=COSM429594,COSM429595;OCCURENCE=2(breast),1(prostate) 0.283 NA 6.8279676 977 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 977 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 977 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 977 4 81884722 81884722 G A exonic C4orf22 NA nonsynonymous SNV C4orf22:NM_152770:exon6:c.G658A:p.V220I,C4orf22:NM_001206997:exon7:c.G709A:p.V237I exonic ENSG00000197826 NA nonsynonymous SNV ENSG00000197826:ENST00000358105:exon6:c.G658A:p.V220I,ENSG00000197826:ENST00000508675:exon7:c.G709A:p.V237I Score=340;Name=lod=32 NA 4q21.21 NA NA NA NA rs1052325 0.83 0.83 0.824 0.810503 0.837 0.9435 0.8487 0.643 0.8456 0.84 0.94 0.83 0.68 0.8365 0.94 0.21 T 0.0 B 0.001 B 0.053 N 1.000 P -0.92 N 1.57 T -1.041 T 0.000 T 0.043 -0.184 3.106 2.83 0.357 0.716 5.714 -0.183693 NA 0.78 0.833682 0.666591 NA 0.783 NA 6.8261514 977 8 52321243 52321243 T C exonic PXDNL NA nonsynonymous SNV PXDNL:NM_144651:exon17:c.A2941G:p.M981V exonic ENSG00000147485 NA nonsynonymous SNV ENSG00000147485:ENST00000522628:exon1:c.A739G:p.M247V,ENSG00000147485:ENST00000356297:exon17:c.A2941G:p.M981V,ENSG00000147485:ENST00000543296:exon17:c.A2941G:p.M981V Score=358;Name=lod=38 NA 8q11.22 NA NA NA NA rs2977020 0.84 0.84 0.827 0.831869 0.8499 0.9335 0.8588 0.7375 0.817 0.85 0.92 0.82 0.73 0.8304 0.92 0.4 T 0.0 B 0.0 B 0.811 N 1.000 P -1.955 N -0.1 T -0.992 T 0.000 T 0.155 -1.454 0.019 -2.82 -0.834 -0.071 5.778 -1.453636 NA 0.42 0.827015 0.771211 NA 0.826 NA 6.8260184 977 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 977 17 77926491 77926491 G A exonic TBC1D16 NA synonymous SNV TBC1D16:NM_019020:exon4:c.C906T:p.D302D exonic ENSG00000167291 NA synonymous SNV ENSG00000167291:ENST00000310924:exon4:c.C906T:p.D302D Score=452;Name=lod=92 NA 17q25.3 Score=893;Name=V$AREB6_03 NA NA NA rs4889804 0.17 0.17 0.176 0.174321 0.2823 0.0685 0.232 0.0832 0.2546 0.29 0.08 0.22 0.08 0.2598 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.770392 1.770392 NA 0.299186 0.126192 NA 0.152 NA 6.8253806 977 18 56149099 56149099 T C exonic ALPK2 NA nonsynonymous SNV ALPK2:NM_052947:exon13:c.A6469G:p.I2157V exonic ENSG00000198796 NA nonsynonymous SNV ENSG00000198796:ENST00000361673:exon13:c.A6469G:p.I2157V NA NA 18q21.31 NA Name=HDAC2_(SC-6296),FOXA1_(C-20),FOXA1_(SC-101058),HEY1,HNF4G_(SC-6558),RXRA,TCF4,SP1,CEBPB,HNF4A_(H-171) NA NA rs7240666 0.9 0.9 0.897 0.921526 0.835 1 0.8948 0.8933 0.9867 0.85 1 0.88 0.9 0.8683 1 1 T 0.0 B 0.0 B 0.006 N 1.000 P -1.735 N 1.12 T -0.924 T 0.000 T 0.006 -1.256 0.049 2.83 0.066 0.439 5.613 -1.256441 NA 0.04 0.805 0.886064 NA 0.855 NA 6.8250334 978 19 9071763 9071763 T A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.A15683T:p.N5228I exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A15683T:p.N5228I NA NA 19p13.2 NA NA NA NA rs10422567 0.82 0.82 0.811 0.81849 0.827 0.8512 0.8703 0.7549 0.8252 0.83 0.88 0.87 0.72 0.8296 0.88 0 D 0.0 B 0.0 B . . . . 0.345 N 4.24 T -1.092 T 0.000 T 0.023 -0.24 2.842 0.647 -0.215 -3.190 1.508 -0.240313 NA 0.48 0.851736 0.784051 NA 0.79 NA 6.8249974 978 3 97607290 97607290 G A exonic CRYBG3 NA synonymous SNV CRYBG3:NM_153605:exon9:c.G7395A:p.P2465P exonic ENSG00000080200 NA synonymous SNV ENSG00000080200:ENST00000182096:exon6:c.G1551A:p.P517P Score=468;Name=lod=106 NA 3q11.2 Score=844;Name=V$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 978 12 106838340 106838340 T C exonic POLR3B NA synonymous SNV POLR3B:NM_001160708:exon19:c.T1881C:p.Y627Y,POLR3B:NM_018082:exon19:c.T2055C:p.Y685Y exonic ENSG00000013503 NA synonymous SNV ENSG00000013503:ENST00000228347:exon19:c.T2055C:p.Y685Y,ENSG00000013503:ENST00000539066:exon19:c.T1881C:p.Y627Y Score=581;Name=lod=307 NA 12q23.3 NA NA NA NA rs10861607 0.33 0.33 0.291 0.317891 0.2694 0.6984 0.3631 0.0144 0.3538 0.27 0.69 0.31 0.02 0.3143 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 0.454575 NA NA 0.258256 0.059691 ID=COSM1358426;OCCURENCE=1(large_intestine) 0.196 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118025.2;CLNDSDB=.;CLNDSDBID=. 6.8247106 978 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 978 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 978 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 978 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 978 10 5781628 5781628 T G exonic FAM208B NA nonsynonymous SNV FAM208B:NM_017782:exon13:c.T1495G:p.C499G exonic ENSG00000108021 NA nonsynonymous SNV ENSG00000108021:ENST00000328090:exon13:c.T1495G:p.C499G NA NA 10p15.1 NA NA NA NA rs2254067 0.85 0.85 0.846 0.83746 0.8419 0.8135 0.8804 0.8865 0.7607 0.84 0.81 0.86 0.89 0.8368 0.89 1 T 0.0 B 0.0 B 0.334 N 1.000 P -1.845 N -4.37 D -1.024 T 0.000 T 0.106 -2.785 0 2.38 0.344 0.326 6.381 -2.78536 NA 1 0.831993 0.871436 NA 0.812 NA 6.8226404 978 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 978 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 978 19 605171 605171 T C exonic HCN2 NA synonymous SNV HCN2:NM_001194:exon3:c.T1167C:p.P389P exonic ENSG00000099822 NA synonymous SNV ENSG00000099822:ENST00000251287:exon3:c.T1167C:p.P389P Score=653;Name=lod=599 NA 19p13.3 NA Name=HEY1,E2F6,TR4 Name=19 NA rs12981860 0.64 0.64 0.61 0.605232 0.5994 0.7669 0.5418 0.5915 0.5082 0.59 0.76 0.57 0.63 0.6056 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 1.850776 1.850776 NA 0.640265 0.561507 NA 0.065 NA 6.8214016 978 19 50726570 50726570 G A exonic MYH14 NA synonymous SNV MYH14:NM_001077186:exon5:c.G657A:p.A219A,MYH14:NM_001145809:exon5:c.G657A:p.A219A,MYH14:NM_024729:exon5:c.G657A:p.A219A exonic ENSG00000105357 NA synonymous SNV ENSG00000105357:ENST00000262269:exon4:c.G657A:p.A219A,ENSG00000105357:ENST00000596571:exon4:c.G657A:p.A219A,ENSG00000105357:ENST00000376970:exon5:c.G657A:p.A219A,ENSG00000105357:ENST00000425460:exon5:c.G657A:p.A219A,ENSG00000105357:ENST00000440075:exon5:c.G657A:p.A219A,ENSG00000105357:ENST00000598205:exon5:c.G657A:p.A219A,ENSG00000105357:ENST00000599920:exon5:c.G657A:p.A219A,ENSG00000105357:ENST00000601313:exon5:c.G657A:p.A219A Score=560;Name=lod=252 NA 19q13.33 Score=885;Name=V$NMYC_01 NA NA NA rs4801822 0.51 0.51 0.502 0.472843 0.6123 0.5804 0.4942 0.1573 0.6299 0.62 0.63 0.51 0.19 0.6057 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180827 NA NA 0.627625 0.227629 ID=COSM1129752,COSM1129753;OCCURENCE=1(prostate) 0.471 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037055.1;CLNDSDB=.;CLNDSDBID=. 6.8210416 978 12 8376110 8376110 T C exonic FAM90A1 NA nonsynonymous SNV FAM90A1:NM_018088:exon6:c.A367G:p.R123G exonic ENSG00000171847 NA nonsynonymous SNV ENSG00000171847:ENST00000307435:exon5:c.A367G:p.R123G,ENSG00000171847:ENST00000538603:exon6:c.A367G:p.R123G NA NA 12p13.31 NA NA NA NA rs9738115 0.67 0.67 0.654 0.682907 0.8757 0.9802 0.6758 0.2829 0.7239 0.78 0.93 0.64 0.2 0.7813 0.93 0.55 T 0.0 B 0.0 B . . 1.000 P 0.55 N 2.82 T -1.021 T 0.000 T 0.018 -0.405 2.104 -2.12 -2.299 -0.792 2.628 -0.40548 NA 0.32 0.855364 0.345612 NA 0.116 NA 6.8209694 978 17 32612894 32612894 G A exonic CCL11 NA nonsynonymous SNV CCL11:NM_002986:exon1:c.G67A:p.A23T exonic ENSG00000172156 NA nonsynonymous SNV ENSG00000172156:ENST00000305869:exon1:c.G67A:p.A23T NA NA 17q12 NA NA NA NA rs1129844 0.14 0.14 0.144 0.144369 0.17 0.1974 0.1369 0.084 0.1503 0.16 0.15 0.13 0.1 0.1646 0.21 0.1 T 0.43 B 0.112 B 0.248 N 1.000 P . . 4.15 T -0.897 T 0.000 T 0.074 1.621 11.38 -1.52 -0.280 0.232 5.813 1.621023 1.621023 NA 0.178488 0.093509 NA 0.138 NA 6.8202454 978 11 120099658 120099658 A G exonic OAF NA nonsynonymous SNV OAF:NM_178507:exon4:c.A629G:p.H210R exonic ENSG00000184232 NA nonsynonymous SNV ENSG00000184232:ENST00000328965:exon4:c.A629G:p.H210R,ENSG00000184232:ENST00000531220:exon4:c.A281G:p.H94R NA NA 11q23.3 NA NA Name=11 NA rs2508489 0.59 0.59 0.55 0.557508 0.8907 0.1478 0.7622 0.5121 0.5532 0.89 0.14 0.77 0.53 0.7423 0.89 0.4 T 0.0 B 0.0 B 0.428 N 1.000 P -1.78 N 1.66 T -1.049 T 0.000 T 0.028 -0.873 0.496 0.675 -0.152 1.205 4.687 -0.87311 NA 0.38 0.881119 0.573054 NA 0.638 NA 6.8192144 978 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 978 22 21330787 21330787 C T exonic AIFM3 NA synonymous SNV AIFM3:NM_001018060:exon11:c.C990T:p.A330A,AIFM3:NM_001146288:exon11:c.C1008T:p.A336A,AIFM3:NM_144704:exon11:c.C990T:p.A330A exonic ENSG00000183773 NA synonymous SNV ENSG00000183773:ENST00000333607:exon10:c.C990T:p.A330A,ENSG00000183773:ENST00000335375:exon10:c.C954T:p.A318A,ENSG00000183773:ENST00000440238:exon10:c.C990T:p.A330A,ENSG00000183773:ENST00000399163:exon11:c.C990T:p.A330A,ENSG00000183773:ENST00000399167:exon11:c.C990T:p.A330A,ENSG00000183773:ENST00000405089:exon11:c.C1008T:p.A336A Score=525;Name=lod=181 NA 22q11.21 Score=894;Name=V$AP2_Q6 NA NA NA rs7285694 0.21 0.21 0.201 0.191294 0.2992 0.1062 0.1888 0.1959 0.1636 0.27 0.13 0.22 0.21 0.2415 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.624176 1.624176 NA 0.308953 0.199047 NA 0.188 NA 6.8170136 978 7 75614953 75614953 T C exonic POR NA synonymous SNV POR:NM_000941:exon13:c.T1455C:p.A485A exonic ENSG00000127948 NA synonymous SNV ENSG00000127948:ENST00000439269:exon7:c.T669C:p.A223A,ENSG00000127948:ENST00000545601:exon8:c.T879C:p.A293A,ENSG00000127948:ENST00000450476:exon9:c.T1152C:p.A384A,ENSG00000127948:ENST00000394893:exon13:c.T1455C:p.A485A,ENSG00000127948:ENST00000419840:exon13:c.T897C:p.A299A,ENSG00000127948:ENST00000461988:exon13:c.T1455C:p.A485A NA NA 7q11.23 NA NA NA NA rs2228104 0.83 0.83 0.812 0.835264 0.9612 0.8472 0.9135 0.6089 0.9438 0.97 0.84 0.9 0.56 0.9226 0.97 . . . . . . . . 0.000 P . . . . -1.034 T 0.000 T . -0.077 3.624 -7.1 -1.903 -6.584 0.682 -0.076997 NA NA 0.96642 0.684337 NA 0.761 NA 6.8164466 978 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 978 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 979 3 101576175 101576175 T C exonic NFKBIZ NA synonymous SNV NFKBIZ:NM_031419:exon11:c.T1975C:p.L659L,NFKBIZ:NM_001005474:exon12:c.T1675C:p.L559L exonic ENSG00000144802 NA synonymous SNV ENSG00000144802:ENST00000326172:exon11:c.T1975C:p.L659L,ENSG00000144802:ENST00000483180:exon11:c.T1675C:p.L559L,ENSG00000144802:ENST00000326151:exon12:c.T1609C:p.L537L,ENSG00000144802:ENST00000394054:exon12:c.T1675C:p.L559L Score=589;Name=lod=329 NA 3q12.3 NA Name=Pol2 Name=18 NA rs14134 0.57 0.57 0.539 0.534345 0.6282 0.4405 0.6772 0.497 0.4836 0.63 0.47 0.67 0.51 0.5948 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 0.916373 NA NA 0.628837 0.519292 NA 0.58 NA 6.8148296 979 13 39587677 39587677 A G exonic PROSER1 NA nonsynonymous SNV PROSER1:NM_025138:exon11:c.T1712C:p.V571A exonic ENSG00000120685 NA nonsynonymous SNV ENSG00000120685:ENST00000350125:exon10:c.T1646C:p.V549A,ENSG00000120685:ENST00000352251:exon11:c.T1712C:p.V571A NA NA 13q13.3 NA NA NA NA rs3751379 0.25 0.25 0.265 0.28095 0.17 0.2183 0.1801 0.4463 0.3078 0.17 0.22 0.2 0.45 0.2002 0.45 . . 0.0 B 0.001 B . . 1.000 P 0.345 N 1.46 T -0.897 T 0.000 T 0.053 -0.312 2.517 -1.6 -0.788 0.098 6.674 -0.311523 NA 0.53 0.14907 0.431684 NA 0.275 NA 6.8140634 979 3 118948716 118948716 G A exonic B4GALT4 NA synonymous SNV B4GALT4:NM_003778:exon3:c.C231T:p.C77C,B4GALT4:NM_212543:exon4:c.C231T:p.C77C exonic ENSG00000121578 NA synonymous SNV ENSG00000121578:ENST00000471675:exon1:c.C90T:p.C30C,ENSG00000121578:ENST00000479150:exon2:c.C231T:p.C77C,ENSG00000121578:ENST00000480814:exon2:c.C231T:p.C77C,ENSG00000121578:ENST00000393765:exon3:c.C231T:p.C77C,ENSG00000121578:ENST00000467604:exon3:c.C231T:p.C77C,ENSG00000121578:ENST00000483209:exon3:c.C231T:p.C77C,ENSG00000121578:ENST00000359213:exon4:c.C231T:p.C77C,ENSG00000121578:ENST00000475803:exon4:c.C231T:p.C77C Score=251;Name=lod=14 NA 3q13.32 Score=957;Name=V$MYB_Q6 NA NA NA rs4422294 0.23 0.23 0.209 0.193291 0.3022 0.246 0.3084 0.0378 0.1554 0.29 0.26 0.31 0.05 0.2552 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068612 NA NA 0.295349 0.077621 ID=COSM149450;OCCURENCE=1(stomach) 0.174 NA 6.8139176 979 12 9161648 9161648 T C exonic KLRG1 NA synonymous SNV KLRG1:NM_005810:exon4:c.T435C:p.D145D exonic ENSG00000139187 NA synonymous SNV ENSG00000139187:ENST00000543895:exon3:c.T198C:p.D66D,ENSG00000139187:ENST00000266551:exon4:c.T435C:p.D145D,ENSG00000139187:ENST00000356986:exon4:c.T435C:p.D145D,ENSG00000139187:ENST00000539240:exon4:c.T198C:p.D66D Score=376;Name=lod=45 NA 12p13.31 Score=873;Name=V$SPZ1_01 NA NA NA rs3026251 0.26 0.26 0.244 0.253395 0.2634 0.379 0.2997 0.0545 0.3497 0.26 0.42 0.28 0.07 0.2909 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327031 NA NA 0.29907 0.076487 NA 0.355 NA 6.8132966 979 12 48920073 48920073 G A exonic OR8S1 NA nonsynonymous SNV OR8S1:NM_001005203:exon1:c.G659A:p.R220H exonic ENSG00000197376 NA nonsynonymous SNV ENSG00000197376:ENST00000310194:exon1:c.G659A:p.R220H NA NA 12q13.11 NA NA NA NA rs61941963 0.09 0.09 0.095 0.0692891 0.2018 0.0288 0.1066 0.0106 0.0276 0.19 0.03 0.1 0.02 0.1232 0.2 0.1 T 0.052 B 0.052 B 0.725 N 1.000 P 0.71 N 8.72 T -1.047 T 0.000 T 0.077 -0.998 0.263 -0.583 -0.298 -0.918 0.179 -0.998124 NA 0.59 0.195116 0.041761 NA 0.094 NA 6.8132174 979 2 65540905 65540905 C G exonic SPRED2 NA synonymous SNV SPRED2:NM_001128210:exon6:c.G978C:p.A326A,SPRED2:NM_181784:exon6:c.G987C:p.A329A exonic ENSG00000198369 NA synonymous SNV ENSG00000198369:ENST00000421087:exon3:c.G633C:p.A211A,ENSG00000198369:ENST00000356388:exon6:c.G987C:p.A329A,ENSG00000198369:ENST00000443619:exon6:c.G978C:p.A326A,ENSG00000198369:ENST00000452315:exon6:c.G1032C:p.A344A Score=742;Name=lod=1378 NA 2p14 Score=882;Name=V$AP2_Q6 NA NA NA rs8827 0.38 0.38 0.318 0.395367 0.2505 0.755 0.4784 0.112 0.498 0.23 0.78 0.44 0.11 0.3473 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 1.32004 1.32004 NA 0.256804 0.152065 ID=COSM1409006;OCCURENCE=1(large_intestine) 0.29 NA 6.8120626 979 2 85780131 85780131 G A exonic GGCX NA synonymous SNV GGCX:NM_001142269:exon8:c.C1047T:p.R349R,GGCX:NM_000821:exon9:c.C1218T:p.R406R exonic ENSG00000115486 NA synonymous SNV ENSG00000115486:ENST00000430215:exon8:c.C1047T:p.R349R,ENSG00000115486:ENST00000233838:exon9:c.C1218T:p.R406R Score=633;Name=lod=497 NA 2p11.2 Score=886;Name=V$P300_01 NA NA NA rs2592551 0.33 0.33 0.323 0.285942 0.3111 0.3095 0.2219 0.3903 0.1401 0.31 0.33 0.25 0.39 0.2661 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.893361 NA NA 0.277674 0.351112 ID=COSM148884;OCCURENCE=1(stomach) 0.304 NA 6.8117926 979 1 179887125 179887125 G A exonic TOR1AIP1 NA synonymous SNV TOR1AIP1:NM_001267578:exon10:c.G1506A:p.A502A,TOR1AIP1:NM_015602:exon10:c.G1503A:p.A501A exonic ENSG00000143337 NA synonymous SNV ENSG00000143337:ENST00000435319:exon10:c.G1503A:p.A501A,ENSG00000143337:ENST00000271583:exon11:c.G1551A:p.A517A Score=577;Name=lod=295 NA 1q25.2 NA NA Name=8 NA rs627897 0.92 0.92 0.91 0.91853 0.9523 0.9147 0.951 0.8449 0.9642 0.96 0.92 0.94 0.86 0.9485 0.96 . . . . . . . . 0.000 P . . . . -1.018 T 0.000 T . 1.113 9.539 -2.41 -0.307 -0.017 7.078 1.112898 NA NA 0.954535 0.874716 NA 0.928 NA 6.8113316 979 15 89398105 89398105 C T exonic ACAN NA synonymous SNV ACAN:NM_001135:exon12:c.C2289T:p.P763P,ACAN:NM_013227:exon12:c.C2289T:p.P763P exonic ENSG00000157766 NA synonymous SNV ENSG00000157766:ENST00000561243:exon11:c.C2289T:p.P763P,ENSG00000157766:ENST00000352105:exon12:c.C2289T:p.P763P,ENSG00000157766:ENST00000439576:exon12:c.C2289T:p.P763P,ENSG00000157766:ENST00000559004:exon12:c.C2289T:p.P763P Score=371;Name=lod=43 Name=Height 15q26.1 Score=772;Name=V$PAX6_01 NA NA NA rs2351491 0.4 0.4 0.38 0.35004 0.6521 0.2083 0.3746 0.1815 0.3957 0.67 0.18 0.46 0.2 0.5574 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 -0.279007 NA NA 0.64713 0.260094 NA 0.435 NA 6.8100366 979 7 44620836 44620836 C A exonic TMED4 NA synonymous SNV TMED4:NM_182547:exon4:c.G390T:p.R130R exonic ENSG00000158604 NA synonymous SNV ENSG00000158604:ENST00000457408:exon4:c.G390T:p.R130R,ENSG00000158604:ENST00000481238:exon4:c.G390T:p.R130R Score=560;Name=lod=252 NA 7p13 NA Name=Pol2,Pol2(phosphoS2),HA-E2F1,GATA-2,STAT1,GATA-1,E2F1,RFX5_(N-494),Mxi1_(bHLH),Max,c-Myc,GTF2F1_(RAP-74),TBP Name=23 NA rs8580 0.76 0.76 0.804 0.766573 0.5905 0.8393 0.6427 0.9554 0.7055 0.59 0.87 0.65 0.96 0.6593 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 1.67357 1.67357 NA 0.60686 0.885837 NA 0.645 NA 6.8100066 979 10 93999850 93999850 A G exonic CPEB3 NA synonymous SNV CPEB3:NM_001178137:exon2:c.T258C:p.P86P,CPEB3:NM_014912:exon2:c.T258C:p.P86P exonic ENSG00000107864 NA synonymous SNV ENSG00000107864:ENST00000265997:exon2:c.T258C:p.P86P,ENSG00000107864:ENST00000412050:exon2:c.T258C:p.P86P Score=817;Name=lod=2793 NA 10q23.32 Score=809;Name=V$TAXCREB_01 NA Name=66 NA rs3824734 0.68 0.68 0.684 0.658546 0.6173 0.499 0.745 0.9501 0.41 0.6 0.53 0.73 0.94 0.6266 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419002 NA NA 0.613165 0.895221 NA 0.246 NA 6.8096016 979 1 175046789 175046789 A G exonic TNN NA nonsynonymous SNV TNN:NM_022093:exon2:c.A235G:p.R79G exonic ENSG00000120332 NA nonsynonymous SNV ENSG00000120332:ENST00000239462:exon2:c.A235G:p.R79G NA NA 1q25.1 NA NA NA NA rs2072032 0.54 0.54 0.52 0.571486 0.508 0.3829 0.5173 0.8533 0.4888 0.5 0.37 0.52 0.83 0.5148 0.83 0.55 T 0.0 B 0.0 B 0.049 N 1.000 P -0.895 N 1.78 T -1.055 T 0.000 T 0.032 -1.896 0.008 0.071 -0.291 1.476 4.944 -1.896385 NA 0.54 0.501628 0.775533 NA 0.703 NA 6.8089054 979 7 29160604 29160604 C T exonic CPVL NA nonsynonymous SNV CPVL:NM_019029:exon2:c.G74A:p.R25H,CPVL:NM_031311:exon2:c.G74A:p.R25H exonic ENSG00000106066 NA nonsynonymous SNV ENSG00000106066:ENST00000265394:exon2:c.G74A:p.R25H,ENSG00000106066:ENST00000396276:exon2:c.G74A:p.R25H,ENSG00000106066:ENST00000449801:exon4:c.G74A:p.R25H,ENSG00000106066:ENST00000455544:exon5:c.G74A:p.R25H,ENSG00000106066:ENST00000409850:exon6:c.G74A:p.R25H NA NA 7p14.3 NA NA NA NA rs34219043 0.09 0.09 0.071 0.0730831 0.172 0.0327 0.1138 0.0219 0.0532 0.18 0.02 0.11 0.04 0.1516 0.2 0.31 T 0.002 B 0.001 B 0.033 N 1.000 P 0.09 N 2.5 T -1.050 T 0.000 T 0.22 0.818 8.292 0.593 -0.176 0.188 8.721 0.817846 NA 0.56 0.20093 0.054244 NA 0.058 NA 6.8088034 979 1 209811886 209811886 T G exonic LAMB3 NA synonymous SNV LAMB3:NM_001017402:exon3:c.A291C:p.S97S,LAMB3:NM_000228:exon4:c.A291C:p.S97S,LAMB3:NM_001127641:exon4:c.A291C:p.S97S exonic ENSG00000196878 NA synonymous SNV ENSG00000196878:ENST00000391911:exon3:c.A291C:p.S97S,ENSG00000196878:ENST00000356082:exon4:c.A291C:p.S97S,ENSG00000196878:ENST00000367030:exon4:c.A291C:p.S97S,ENSG00000196878:ENST00000415782:exon4:c.A291C:p.S97S Score=483;Name=lod=122 NA 1q32.2 Score=882;Name=V$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 979 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 979 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 979 20 61870727 61870727 G C exonic BIRC7 NA nonsynonymous SNV BIRC7:NM_139317:exon6:c.G667C:p.E223Q exonic ENSG00000101197 NA nonsynonymous SNV ENSG00000101197:ENST00000217169:exon6:c.G667C:p.E223Q NA NA 20q13.33 NA NA NA NA rs1077019 0.24 0.24 0.221 0.246605 0.174 0.377 0.183 0.2753 0.1933 0.17 0.35 0.18 0.27 0.1898 0.35 0.55 T 0.0 B 0.0 B 0.003 N 1.000 P -0.345 N 0.67 T -0.995 T 0.000 T 0.029 -1.072 0.171 1.36 0.092 -0.427 3.218 -1.071505 NA 0.53 0.162596 0.264866 ID=COSM444199;OCCURENCE=1(breast) 0.254 NA 6.8069374 979 17 48226811 48226811 C T exonic PPP1R9B NA unknown UNKNOWN exonic ENSG00000108819 NA synonymous SNV ENSG00000108819:ENST00000316878:exon3:c.G1062A:p.A354A NA NA 17q21.33 NA Name=Pol2,ZNF263 Name=110 NA rs74676292 0.18 0.18 0.132 0.169529 0.1392 0.3333 0.2233 0.0287 0.184 0.14 0.35 0.19 0.05 0.219 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.63051 1.63051 NA 0.169112 0.043103 NA 0.051 NA 6.8060213 979 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$TST1_01 NA NA NA rs7654255 0.25 0.25 0.255 0.233027 0.3012 0.1359 0.1412 0.3472 0.1738 0.32 0.12 0.17 0.33 0.2631 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51646 NA NA 0.296577 0.32341 NA 0.406 NA 6.8057896 979 7 99474427 99474427 A G exonic OR2AE1 NA nonsynonymous SNV OR2AE1:NM_001005276:exon1:c.T230C:p.I77T exonic ENSG00000244623 NA nonsynonymous SNV ENSG00000244623:ENST00000316368:exon1:c.T230C:p.I77T NA NA 7q22.1 NA Name=Rad21,PU.1,eGFP-GATA2,GATA2_(CG2-96),GATA-2,CTCF,ELF1_(SC-631) NA NA rs2572023 0.53 0.53 0.539 0.555312 0.4851 0.2907 0.4251 0.9107 0.5123 0.5 0.26 0.47 0.92 0.5205 0.92 1 T 0.0 B 0.0 B 0.001 N 1.000 P -0.19 N 5.28 T -1.004 T 0.000 T 0.018 -3.11 0.001 0.807 -0.055 -0.121 7.169 -3.109683 NA 1 0.521977 0.836813 NA 0.572 NA 6.8057564 979 10 99371344 99371344 C A exonic HOGA1 NA synonymous SNV HOGA1:NM_001134670:exon3:c.C423A:p.A141A,HOGA1:NM_138413:exon7:c.C912A:p.A304A exonic ENSG00000241935 NA synonymous SNV ENSG00000241935:ENST00000370647:exon3:c.C423A:p.A141A,ENSG00000241935:ENST00000370646:exon7:c.C912A:p.A304A Score=340;Name=lod=32 NA 10q24.2 Score=788;Name=V$HEN1_02 NA NA NA rs12261752 0.3 0.3 0.292 0.317492 0.2545 0.3492 0.2363 0.3177 0.407 0.26 0.35 0.23 0.35 0.3076 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.017523 NA NA 0.299186 0.305946 NA 0.341 NA 6.8053806 979 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 980 4 57181629 57181629 C T exonic KIAA1211 NA nonsynonymous SNV KIAA1211:NM_020722:exon8:c.C1961T:p.P654L exonic ENSG00000109265 NA nonsynonymous SNV ENSG00000109265:ENST00000504228:exon6:c.C1961T:p.P654L,ENSG00000109265:ENST00000541073:exon7:c.C1940T:p.P647L,ENSG00000109265:ENST00000264229:exon8:c.C1961T:p.P654L NA NA 4q12 NA NA NA NA rs61750793 0.23 0.23 0.029 0.201278 0.2823 0.254 0.196 0.1415 0.1483 0.27 0.24 0.21 0.15 0.2415 0.27 0.64 T 0.005 B 0.003 B . . 1.000 P 1.155 L 4.66 T -0.953 T 0.000 T 0.068 -0.085 3.586 -0.764 -0.084 0.689 4.074 -0.084625 NA 0.6 0.005481 0.001293 NA 0.203 NA 6.8040524 980 17 80019207 80019207 G C exonic DUS1L NA synonymous SNV DUS1L:NM_022156:exon8:c.C720G:p.A240A exonic ENSG00000169718 NA nonsynonymous SNV ENSG00000169718:ENST00000578907:exon8:c.C781G:p.P261A Score=478;Name=lod=117 NA 17q25.3 NA NA NA NA rs11542331 0.06 0.06 0.056 0.0613019 0.0726 0.0208 0.0836 0.0734 0.0593 0.06 0.02 0.1 0.09 0.0614 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 0.823366 NA NA 0.062049 0.059345 NA 0.058 NA 6.803951 980 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 980 17 7673928 7673928 C G exonic DNAH2 NA synonymous SNV DNAH2:NM_020877:exon25:c.C4152G:p.P1384P exonic ENSG00000183914 NA synonymous SNV ENSG00000183914:ENST00000389173:exon25:c.C4152G:p.P1384P,ENSG00000183914:ENST00000572933:exon26:c.C4152G:p.P1384P Score=517;Name=lod=168 NA 17p13.1 Score=742;Name=V$SRF_01 NA NA NA rs9909288 0.34 0.34 0.315 0.358027 0.2913 0.374 0.4424 0.3404 0.3742 0.28 0.39 0.36 0.37 0.317 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.232098 NA NA 0.255 0.32138 NA 0.268 NA 6.8033666 980 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$TCF11MAFG_01 Name=NRSF NA NA rs6050259 0.23 0.23 0.207 0.222644 0.3072 0.0873 0.2305 0.2806 0.1912 0.29 0.1 0.26 0.25 0.2465 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.646236 NA NA 0.309651 0.297095 NA 0.174 NA 6.8033156 980 10 17024503 17024503 G A exonic CUBN NA nonsynonymous SNV CUBN:NM_001081:exon31:c.C4675T:p.P1559S exonic ENSG00000107611 NA nonsynonymous SNV ENSG00000107611:ENST00000438254:exon2:c.C241T:p.P81S,ENSG00000107611:ENST00000377833:exon31:c.C4675T:p.P1559S Score=524;Name=lod=180 NA 10p13 Score=787;Name=V$PPARG_03 NA NA NA rs1801231 0.63 0.63 0.62 0.613419 0.8678 0.5585 0.6268 0.3495 0.7556 0.86 0.52 0.65 0.39 0.7729 0.89 0.77 T 0.075 B 0.046 B 0.090 N 0.000 P 0.49 N 2.37 T -0.999 T 0.000 T 0.048 1.076 9.394 1.09 0.010 0.197 1.404 1.076256 NA 0.83 0.889419 0.474126 NA 0.667 NA 6.8032144 980 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 980 16 2821573 2821573 C T exonic TCEB2 NA nonsynonymous SNV TCEB2:NM_207013:exon5:c.G386A:p.S129N exonic ENSG00000103363 NA nonsynonymous SNV ENSG00000103363:ENST00000262306:exon5:c.G386A:p.S129N NA NA 16p13.3 NA Name=Pol2,Pol2-4H8 NA NA rs8017 0.41 0.41 0.396 0.413738 0.5169 0.3591 0.5533 0.2269 0.5174 0.5 0.34 0.55 0.25 0.482 0.55 0.25 T 0.118 B 0.023 B . . 1.000 P 0 N . . -0.933 T 0.000 T 0.001 1.207 9.901 1.03 0.323 -0.011 3.672 1.206812 NA 0 0.531977 0.288217 NA 0.304 NA 6.8024564 980 5 112177171 112177171 G A exonic APC NA synonymous SNV APC:NM_001127511:exon14:c.G5826A:p.P1942P,APC:NM_000038:exon16:c.G5880A:p.P1960P,APC:NM_001127510:exon17:c.G5880A:p.P1960P exonic ENSG00000134982 NA synonymous SNV ENSG00000134982:ENST00000257430:exon16:c.G5880A:p.P1960P,ENSG00000134982:ENST00000457016:exon16:c.G5880A:p.P1960P,ENSG00000134982:ENST00000508376:exon17:c.G5880A:p.P1960P Score=661;Name=lod=645 NA 5q22.2 Score=792;Name=V$ISRE_01 NA NA NA rs465899 0.66 0.66 0.646 0.666534 0.5994 0.8165 0.7161 0.5212 0.7423 0.61 0.81 0.71 0.54 0.6488 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.286409 NA NA 0.616771 0.52861 NA 0.623 CLINSIG=non-pathogenic|other;CLNDBN=not_specified|Familial_colorectal_cancer;CLNREVSTAT=mult|single;CLNACC=RCV000035080.2|RCV000074242.1;CLNDSDB=.|MedGen:OMIM;CLNDSDBID=.|CN029768:114500 6.8016956 980 20 17932210 17932210 C T exonic SNX5 NA synonymous SNV SNX5:NM_014426:exon6:c.G543A:p.E181E,SNX5:NM_152227:exon7:c.G543A:p.E181E exonic ENSG00000089006 NA synonymous SNV ENSG00000089006:ENST00000419004:exon5:c.G438A:p.E146E,ENSG00000089006:ENST00000431277:exon5:c.G432A:p.E144E,ENSG00000089006:ENST00000377759:exon6:c.G543A:p.E181E,ENSG00000089006:ENST00000377768:exon7:c.G543A:p.E181E Score=554;Name=lod=239 NA 20p11.23 NA Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194) NA NA rs2273448 0.27 0.27 0.236 0.297125 0.2634 0.4375 0.232 0.115 0.4796 0.27 0.45 0.21 0.1 0.3118 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605392 NA NA 0.290698 0.161144 NA 0.109 NA 6.8007686 980 15 68624396 68624396 A C exonic ITGA11 NA nonsynonymous SNV ITGA11:NM_001004439:exon14:c.T1571G:p.L524R exonic ENSG00000137809 NA nonsynonymous SNV ENSG00000137809:ENST00000315757:exon14:c.T1571G:p.L524R,ENSG00000137809:ENST00000423218:exon14:c.T1571G:p.L524R NA NA 15q23 Score=959;Name=V$FOXO4_01 NA NA NA rs7168069 0.88 0.88 0.873 0.897564 0.8439 0.9147 0.9078 0.8971 0.9284 0.84 0.92 0.9 0.89 0.8664 0.92 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.705 N 3.87 T -1.000 T 0.000 T 0.036 -2.413 0.003 4.09 0.526 -0.127 3.755 -2.413326 NA 1 0.822693 0.893753 NA 0.826 NA 6.8003404 980 19 1231142 1231142 T C exonic C19orf26 NA nonsynonymous SNV C19orf26:NM_152769:exon9:c.A1112G:p.H371R exonic ENSG00000099625 NA nonsynonymous SNV ENSG00000099625:ENST00000215376:exon9:c.A1094G:p.H365R,ENSG00000099625:ENST00000382477:exon9:c.A1172G:p.H391R,ENSG00000099625:ENST00000590083:exon9:c.A1112G:p.H371R NA NA 19p13.3 Score=958;Name=V$IK2_01 NA NA NA rs8110590 0.63 0.63 0.593 0.651358 0.4911 0.9911 0.5389 0.5923 0.6258 0.5 0.99 0.5 0.53 0.5551 0.99 0.69 T 0.0 B 0.001 B 0.057 N 1.000 P 0 N . . -0.986 T 0.000 T 0.027 -2.131 0.005 -0.095 -0.106 0.268 8.464 -2.131024 NA 0.82 0.48683 0.586857 NA 0.312 NA 6.8003034 980 20 17968923 17968923 T C exonic MGME1 NA synonymous SNV MGME1:NM_052865:exon4:c.T846C:p.D282D exonic ENSG00000125871 NA synonymous SNV ENSG00000125871:ENST00000377709:exon4:c.T606C:p.D202D,ENSG00000125871:ENST00000377710:exon4:c.T846C:p.D282D Score=525;Name=lod=181 NA 20p11.23 NA NA Name=4 NA rs28455091 0.28 0.28 0.27 0.311901 0.2624 0.4345 0.2349 0.1823 0.4663 0.27 0.44 0.22 0.15 0.3144 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.389568 NA NA 0.290698 0.216296 NA 0.123 NA 6.7991686 980 17 45811210 45811210 A G exonic TBX21 NA synonymous SNV TBX21:NM_013351:exon1:c.A390G:p.G130G exonic ENSG00000073861 NA synonymous SNV ENSG00000073861:ENST00000177694:exon1:c.A390G:p.G130G Score=636;Name=lod=513 NA 17q21.32 Score=708;Name=V$NRSF_01 NA NA NA rs2074190 0.24 0.24 0.185 0.281749 0.2644 0.1121 0.3429 0.292 0.4172 0.26 0.09 0.36 0.3 0.3423 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.198344 NA NA 0.261754 0.274607 ID=COSM436765;OCCURENCE=1(breast) 0.167 NA 6.7982126 980 1 155186742 155186742 G A ncRNA_exonic GBAP1 NA NA NA ncRNA_exonic ENSG00000160766 NA NA NA Score=587;Name=lod=325 NA 1q22 NA NA NA NA rs1057941 0.48 0.48 0.374 0.444289 0.3917 0.7411 0.5994 0.1725 0.4499 0.42 0.8 0.53 0.16 0.477 0.8 1 T 0.011 B 0.002 B 0.000 N 0.997 P . . . . -0.971 T 0.012 T . -1.376 0.025 1.04 -0.197 3.765 4.691 -1.376427 NA 1 NA NA NA 0.406 NA 6.7979666 980 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 980 11 85456703 85456703 T C exonic SYTL2 NA synonymous SNV SYTL2:NM_001162951:exon3:c.A366G:p.E122E,SYTL2:NM_001162953:exon3:c.A366G:p.E122E,SYTL2:NM_032943:exon4:c.A366G:p.E122E exonic ENSG00000137501 NA synonymous SNV ENSG00000137501:ENST00000524452:exon3:c.A366G:p.E122E,ENSG00000137501:ENST00000527523:exon3:c.A222G:p.E74E,ENSG00000137501:ENST00000528231:exon3:c.A366G:p.E122E,ENSG00000137501:ENST00000316356:exon4:c.A366G:p.E122E,ENSG00000137501:ENST00000389960:exon4:c.A366G:p.E122E Score=371;Name=lod=43 NA 11q14.1 NA Name=GATA-2 Name=5 NA rs647912 0.57 0.57 0.556 0.546725 0.6342 0.6141 0.5029 0.4788 0.5102 0.64 0.58 0.55 0.49 0.6012 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.998598 NA NA 0.634682 0.506809 NA 0.362 NA 6.7965846 980 12 106903321 106903321 T C exonic POLR3B NA synonymous SNV POLR3B:NM_001160708:exon28:c.T3222C:p.N1074N,POLR3B:NM_018082:exon28:c.T3396C:p.N1132N exonic ENSG00000013503 NA synonymous SNV ENSG00000013503:ENST00000228347:exon28:c.T3396C:p.N1132N,ENSG00000013503:ENST00000539066:exon28:c.T3222C:p.N1074N Score=527;Name=lod=184 NA 12q23.3 NA NA NA NA rs13561 0.34 0.34 0.311 0.32488 0.2724 0.6855 0.366 0.0408 0.362 0.28 0.67 0.31 0.07 0.3241 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 0.982542 NA NA 0.27407 0.089424 NA 0.167 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118027.2;CLNDSDB=.;CLNDSDBID=. 6.7960966 980 2 85806266 85806266 C T exonic VAMP8 NA synonymous SNV VAMP8:NM_003761:exon2:c.C138T:p.N46N exonic ENSG00000118640 NA synonymous SNV ENSG00000118640:ENST00000263864:exon2:c.C138T:p.N46N,ENSG00000118640:ENST00000409760:exon2:c.C138T:p.N46N,ENSG00000118640:ENST00000432071:exon2:c.C60T:p.N20N Score=642;Name=lod=541 NA 2p11.2 Score=868;Name=V$EVI1_06 NA NA NA rs3731828 0.32 0.32 0.307 0.283347 0.2982 0.3085 0.2161 0.3971 0.136 0.3 0.33 0.25 0.4 0.299 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.3926 1.3926 NA 0.273488 0.353155 ID=COSM148885;OCCURENCE=1(stomach) 0.304 NA 6.7959786 980 19 44471209 44471209 T A exonic ZNF221 NA nonsynonymous SNV ZNF221:NM_013359:exon6:c.T1555A:p.S519T exonic ENSG00000159905 NA nonsynonymous SNV ENSG00000159905:ENST00000587682:exon5:c.T1555A:p.S519T,ENSG00000159905:ENST00000251269:exon6:c.T1555A:p.S519T,ENSG00000159905:ENST00000592350:exon6:c.T1555A:p.S519T NA NA 19q13.31 NA NA NA NA rs365745 0.77 0.77 0.771 0.736422 0.8539 0.8452 0.8487 0.4841 0.7648 0.84 0.84 0.83 0.54 0.8242 0.86 0.05 D 0.038 B 0.013 B . . 1.000 P 2.055 M 2.25 T -1.080 T 0.000 T 0.041 2.199 13.31 1.55 0.237 -0.319 4.269 2.198883 2.198883 0.27 0.859419 0.546754 NA 0.71 NA 6.7958144 981 14 65241228 65241228 A G exonic SPTB NA synonymous SNV SPTB:NM_000347:exon23:c.T4860C:p.I1620I,SPTB:NM_001024858:exon23:c.T4860C:p.I1620I exonic ENSG00000070182 NA synonymous SNV ENSG00000070182:ENST00000553938:exon5:c.T855C:p.I285I,ENSG00000070182:ENST00000389720:exon23:c.T4860C:p.I1620I,ENSG00000070182:ENST00000389721:exon23:c.T4860C:p.I1620I,ENSG00000070182:ENST00000389722:exon23:c.T4860C:p.I1620I,ENSG00000070182:ENST00000542895:exon24:c.T4860C:p.I1620I,ENSG00000070182:ENST00000556626:exon24:c.T4860C:p.I1620I Score=538;Name=lod=204 NA 14q23.3 NA Name=CTCF NA NA rs229592 0.46 0.46 0.48 0.478435 0.2664 0.4563 0.3242 0.848 0.3292 0.26 0.51 0.32 0.81 0.3722 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049491 NA NA 0.233608 0.728355 NA 0.486 NA 6.7944586 981 1 156639753 156639753 G A exonic NES NA synonymous SNV NES:NM_006617:exon4:c.C4227T:p.S1409S exonic ENSG00000132688 NA synonymous SNV ENSG00000132688:ENST00000368223:exon4:c.C4227T:p.S1409S Score=484;Name=lod=124 NA 1q23.1 Score=709;Name=V$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 981 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 981 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 981 15 59368167 59368167 G A exonic RNF111 NA synonymous SNV RNF111:NM_001270528:exon7:c.G1701A:p.V567V,RNF111:NM_001270529:exon7:c.G1698A:p.V566V,RNF111:NM_001270530:exon7:c.G1701A:p.V567V,RNF111:NM_017610:exon7:c.G1701A:p.V567V exonic ENSG00000157450 NA synonymous SNV ENSG00000157450:ENST00000561186:exon6:c.G1701A:p.V567V,ENSG00000157450:ENST00000348370:exon7:c.G1701A:p.V567V,ENSG00000157450:ENST00000434298:exon7:c.G1701A:p.V567V,ENSG00000157450:ENST00000557998:exon7:c.G1701A:p.V567V,ENSG00000157450:ENST00000559209:exon7:c.G1701A:p.V567V Score=524;Name=lod=179 NA 15q22.2 Score=856;Name=V$IK3_01 NA NA NA rs7178935 0.43 0.43 0.444 0.426318 0.2634 0.4563 0.451 0.6589 0.2311 0.27 0.45 0.41 0.66 0.3353 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 0.963056 NA NA 0.27581 0.604471 NA 0.471 NA 6.7921566 981 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 981 19 38995438 38995438 T C exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon51:c.T8118C:p.I2706I,RYR1:NM_001042723:exon51:c.T8118C:p.I2706I exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon51:c.T8118C:p.I2706I,ENSG00000196218:ENST00000359596:exon51:c.T8118C:p.I2706I,ENSG00000196218:ENST00000360985:exon51:c.T8118C:p.I2706I Score=556;Name=lod=242 NA 19q13.2 NA NA NA NA rs2960340 0.36 0.36 0.349 0.415136 0.2992 0.3532 0.3689 0.5182 0.4918 0.31 0.32 0.35 0.5 0.3264 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.489051 NA NA 0.249186 0.457558 ID=COSM148611;OCCURENCE=1(stomach) 0.341 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079175.1|RCV000119738.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.7918806 981 4 122683007 122683007 G A exonic TMEM155 NA nonsynonymous SNV TMEM155:NM_152399:exon4:c.C32T:p.A11V exonic ENSG00000164112 NA nonsynonymous SNV ENSG00000164112:ENST00000337677:exon4:c.C32T:p.A11V,ENSG00000164112:ENST00000394394:exon4:c.C32T:p.A11V,ENSG00000164112:ENST00000394396:exon4:c.C32T:p.A11V,ENSG00000164112:ENST00000514885:exon4:c.C32T:p.A11V NA NA 4q27 NA NA NA NA rs4370153 0.87 0.87 0.88 0.886981 0.826 0.881 0.8948 0.9342 0.8865 0.84 0.88 0.87 0.93 0.8685 0.93 0 D 0.0 B 0.0 B 0.008 N 1.000 P -0.55 N 0.54 T -0.906 T 0.000 T 0.429 1.169 9.756 -3.35 -0.825 -0.170 2.881 1.168907 NA 1 0.846977 0.917612 NA 0.891 NA 6.7918564 981 19 38995975 38995975 G A exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon53:c.G8337A:p.E2779E,RYR1:NM_001042723:exon53:c.G8337A:p.E2779E exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon53:c.G8337A:p.E2779E,ENSG00000196218:ENST00000359596:exon53:c.G8337A:p.E2779E,ENSG00000196218:ENST00000360985:exon53:c.G8337A:p.E2779E Score=606;Name=lod=388 NA 19q13.2 NA NA NA NA rs2915952 0.35 0.35 0.323 0.40595 0.2982 0.3532 0.366 0.4856 0.4918 0.31 0.32 0.35 0.46 0.3294 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332757 NA NA 0.247558 0.426658 ID=COSM148613;OCCURENCE=1(stomach) 0.341 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079177.1|RCV000119745.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.7915086 981 5 176885499 176885499 T C exonic DBN1 NA nonsynonymous SNV DBN1:NM_004395:exon12:c.A1336G:p.I446V,DBN1:NM_080881:exon13:c.A1342G:p.I448V exonic ENSG00000113758 NA nonsynonymous SNV ENSG00000113758:ENST00000393563:exon5:c.A532G:p.I178V,ENSG00000113758:ENST00000512501:exon5:c.A532G:p.I178V,ENSG00000113758:ENST00000309007:exon12:c.A1336G:p.I446V,ENSG00000113758:ENST00000292385:exon13:c.A1342G:p.I448V,ENSG00000113758:ENST00000393565:exon13:c.A1474G:p.I492V NA NA 5q35.3 NA NA NA NA rs2544809 0.42 0.42 0.427 0.395367 0.5249 0.2609 0.3732 0.4894 0.2894 0.53 0.24 0.42 0.44 0.4614 0.56 0.93 T 0.0 B 0.0 B 0.426 N 1.000 P 0 N 1.65 T -0.947 T 0.000 T 0.05 -3.106 0.001 2.76 0.354 -0.209 7.004 -3.106167 NA 1 0.556047 0.481162 NA 0.42 NA 6.7909864 981 9 35870225 35870225 G A exonic OR13J1 NA synonymous SNV OR13J1:NM_001004487:exon1:c.C174T:p.P58P exonic ENSG00000168828 NA synonymous SNV ENSG00000168828:ENST00000377981:exon1:c.C174T:p.P58P Score=524;Name=lod=179 NA 9p13.3 Score=828;Name=V$HMX1_01 NA NA NA rs72727089 0.18 0.18 0.162 0.177716 0.3091 0.0804 0.2608 0.0272 0.2873 0.3 0.09 0.3 0.02 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 0.993236 NA NA 0.309884 0.074898 NA 0.232 NA 6.7894826 981 13 32911888 32911888 A G exonic BRCA2 NA synonymous SNV BRCA2:NM_000059:exon11:c.A3396G:p.K1132K exonic ENSG00000139618 NA synonymous SNV ENSG00000139618:ENST00000380152:exon11:c.A3396G:p.K1132K,ENSG00000139618:ENST00000544455:exon11:c.A3396G:p.K1132K Score=259;Name=lod=15 NA 13q13.1 NA NA NA NA rs1801406 0.28 0.28 0.273 0.266773 0.2753 0.3681 0.2378 0.2095 0.2515 0.29 0.38 0.23 0.16 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 -0.100397 NA NA 0.307397 0.226055 NA 0.275 CLINSIG=non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_2,Breast-ovarian_cancer\x2c_familial_2|Familial_cancer_of_breast|not_provided|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=single,mult|not|single|single;CLNACC=RCV000113169.1,RCV000113170.2|RCV000114982.1|RCV000123961.1|RCV000130987.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet,GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|.|MedGen;CLNDSDBID=NBK1247:C2675520:612555:ORPHA145,NBK1247:C2675520:612555:ORPHA145|NBK1247:C0346153:114480:254843006|.|C0027672 6.7894696 981 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=Rad21,CTCF,CTCF_(C-20),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 981 1 46094027 46094027 A G exonic GPBP1L1 NA synonymous SNV GPBP1L1:NM_021639:exon13:c.T1326C:p.S442S exonic ENSG00000159592 NA synonymous SNV ENSG00000159592:ENST00000290795:exon12:c.T1326C:p.S442S,ENSG00000159592:ENST00000355105:exon13:c.T1326C:p.S442S Score=355;Name=lod=37 NA 1p34.1 Score=862;Name=V$GRE_C NA NA NA rs1250 0.31 0.31 0.317 0.322484 0.2823 0.3472 0.3458 0.2648 0.3998 0.29 0.36 0.31 0.27 0.3009 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.821253 NA NA 0.294767 0.253745 ID=COSM146499;OCCURENCE=1(stomach) 0.391 NA 6.7886996 981 10 88702390 88702390 G A exonic MMRN2 NA synonymous SNV MMRN2:NM_024756:exon6:c.C2151T:p.A717A exonic ENSG00000173269 NA synonymous SNV ENSG00000173269:ENST00000372027:exon6:c.C2151T:p.A717A Score=336;Name=lod=31 NA 10q23.2 NA NA Name=9 NA rs10887673 0.19 0.19 0.2 0.202276 0.3002 0.0645 0.2248 0.1142 0.3466 0.31 0.07 0.26 0.11 0.2776 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388092 NA NA 0.30114 0.144934 NA 0.246 NA 6.7877266 981 8 37985897 37985897 A G exonic ASH2L NA synonymous SNV ASH2L:NM_001105214:exon11:c.A972G:p.K324K,ASH2L:NM_001261832:exon11:c.A972G:p.K324K,ASH2L:NM_004674:exon11:c.A1254G:p.K418K exonic ENSG00000129691 NA synonymous SNV ENSG00000129691:ENST00000545394:exon10:c.A837G:p.K279K,ENSG00000129691:ENST00000250635:exon11:c.A972G:p.K324K,ENSG00000129691:ENST00000343823:exon11:c.A1254G:p.K418K,ENSG00000129691:ENST00000428278:exon11:c.A972G:p.K324K,ENSG00000129691:ENST00000521652:exon11:c.A972G:p.K324K Score=528;Name=lod=187 NA 8p11.23 Score=875;Name=V$HAND1E47_01 NA NA NA rs2843740 0.85 0.85 0.835 0.848043 0.9732 0.752 0.853 0.798 0.8824 0.97 0.75 0.87 0.77 0.9223 0.98 . . . . . . . . 0.000 P . . . . -0.992 T 0.000 T . 1.449 10.79 -2.16 -0.356 -0.687 12.450 1.449205 1.449205 NA 0.983953 0.783477 NA 0.891 NA 6.7872136 981 6 123833457 123833457 G C exonic TRDN NA nonsynonymous SNV TRDN:NM_001251987:exon7:c.C601G:p.L201V,TRDN:NM_001256020:exon7:c.C601G:p.L201V,TRDN:NM_001256021:exon7:c.C601G:p.L201V,TRDN:NM_006073:exon7:c.C601G:p.L201V exonic ENSG00000186439 NA nonsynonymous SNV ENSG00000186439:ENST00000334268:exon7:c.C601G:p.L201V,ENSG00000186439:ENST00000398178:exon7:c.C601G:p.L201V,ENSG00000186439:ENST00000546248:exon7:c.C601G:p.L201V NA NA 6q22.31 NA NA NA NA rs6902416 0.84 0.84 0.828 0.843251 0.8588 0.878 0.8674 0.7965 0.8374 0.85 0.89 0.83 0.8 0.8259 0.94 1 T 0.0 B 0.0 B 0.280 N 1.000 P -0.69 N 1.56 T -1.030 T 0.049 T 0.15 -1.204 0.07 -3.38 -0.748 -1.604 1.908 -1.203884 NA 0.32 0.861492 0.799322 NA 0.942 NA 6.7871414 981 14 73422350 73422350 T G exonic DCAF4 NA synonymous SNV DCAF4:NM_181341:exon10:c.T945G:p.S315S,DCAF4:NM_181340:exon11:c.T825G:p.S275S,DCAF4:NM_001163508:exon12:c.T1107G:p.S369S,DCAF4:NM_001163509:exon12:c.T1062G:p.S354S,DCAF4:NM_015604:exon12:c.T1125G:p.S375S exonic ENSG00000119599 NA synonymous SNV ENSG00000119599:ENST00000353777:exon6:c.T615G:p.S205S,ENSG00000119599:ENST00000509153:exon10:c.T945G:p.S315S,ENSG00000119599:ENST00000394234:exon11:c.T825G:p.S275S,ENSG00000119599:ENST00000553457:exon11:c.T825G:p.S275S,ENSG00000119599:ENST00000358377:exon12:c.T1125G:p.S375S,ENSG00000119599:ENST00000555042:exon12:c.T1107G:p.S369S Score=468;Name=lod=106 NA 14q24.2 Score=867;Name=V$RORA1_01 NA NA NA rs2806034 0.23 0.23 0.204 0.208866 0.3131 0.1518 0.1527 0.1921 0.2229 0.33 0.14 0.18 0.21 0.2641 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.095084 NA NA 0.302442 0.220154 NA 0.232 NA 6.7870246 981 12 11338781 11338781 C A exonic TAS2R42 NA nonsynonymous SNV TAS2R42:NM_181429:exon1:c.G763T:p.G255W exonic ENSG00000186136 NA nonsynonymous SNV ENSG00000186136:ENST00000334266:exon1:c.G763T:p.G255W NA NA 12p13.2 NA NA NA NA rs1669413 0.79 0.79 0.766 0.760783 0.8688 0.9514 0.8473 0.407 0.8701 0.88 0.96 0.85 0.42 0.838 0.96 0.55 T 0.0 B 0.0 B 0.117 N 1.000 P -2.79 N 1.21 T -0.981 T 0.000 T 0.11 0.176 4.947 2.32 0.588 1.221 3.936 0.17602 NA 0.6 0.839651 0.467771 NA 0.746 NA 6.7868824 981 4 86844835 86844835 A G exonic ARHGAP24 NA synonymous SNV ARHGAP24:NM_001042669:exon2:c.A18G:p.E6E,ARHGAP24:NM_001025616:exon4:c.A303G:p.E101E exonic ENSG00000138639 NA synonymous SNV ENSG00000138639:ENST00000395183:exon2:c.A18G:p.E6E,ENSG00000138639:ENST00000514229:exon2:c.A48G:p.E16E,ENSG00000138639:ENST00000395184:exon4:c.A303G:p.E101E,ENSG00000138639:ENST00000503995:exon4:c.A303G:p.E101E,ENSG00000138639:ENST00000512201:exon4:c.A18G:p.E6E Score=677;Name=lod=755 NA 4q21.23 Score=734;Name=V$MYOGNF1_01 NA NA NA rs6824722 0.35 0.35 0.325 0.396366 0.2744 0.3601 0.3689 0.4304 0.5327 0.27 0.37 0.38 0.43 0.3321 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.367169 1.367169 NA 0.273488 0.40059 NA 0.355 NA 6.7866786 981 14 60582053 60582053 G A exonic PCNXL4 NA nonsynonymous SNV PCNXL4:NM_022495:exon3:c.G529A:p.V177I exonic ENSG00000126773 NA nonsynonymous SNV ENSG00000126773:ENST00000317623:exon3:c.G529A:p.V177I,ENSG00000126773:ENST00000404681:exon3:c.G1231A:p.V411I,ENSG00000126773:ENST00000406949:exon3:c.G529A:p.V177I,ENSG00000126773:ENST00000406854:exon4:c.G1231A:p.V411I Score=486;Name=lod=126 NA 14q23.1 NA NA NA NA rs150688 0.72 0.72 0.676 0.651358 0.8817 0.6548 0.8588 0.3918 0.6145 0.89 0.66 0.84 0.44 0.7938 0.89 0.28 T 0.01 B 0.002 B . . 0.006 P 0.455 N 1.6 T -1.057 T 0.000 T 0.049 1.336 10.39 0.159 -0.248 2.271 7.342 1.336114 1.336114 0.26 0.871173 0.461602 NA 0.754 NA 6.7866604 981 19 17648350 17648350 T C splicing FAM129C NM_173544:exon6:c.685+1T>C,NM_001098524:exon6:c.685+1T>C NA NA exonic ENSG00000167483 NA nonsynonymous SNV ENSG00000167483:ENST00000599124:exon5:c.T593C:p.I198T,ENSG00000167483:ENST00000599164:exon5:c.T593C:p.I198T,ENSG00000167483:ENST00000600519:exon5:c.T593C:p.I198T,ENSG00000167483:ENST00000600871:exon5:c.T524C:p.I175T,ENSG00000167483:ENST00000601861:exon5:c.T593C:p.I198T,ENSG00000167483:ENST00000300971:exon6:c.T686C:p.I229T,ENSG00000167483:ENST00000332386:exon6:c.T686C:p.I229T,ENSG00000167483:ENST00000335393:exon6:c.T686C:p.I229T,ENSG00000167483:ENST00000352727:exon6:c.T686C:p.I229T,ENSG00000167483:ENST00000595684:exon6:c.T686C:p.I229T Score=343;Name=lod=33 NA 19p13.11 NA NA NA NA rs8107859 0.91 0.91 0.914 0.900958 0.9722 0.7371 0.938 0.9977 0.8395 0.97 0.72 0.95 0.99 0.9364 0.99 0.49 T . . . . 0.003 N 0.000 P -2.075 N 2.42 T -0.964 T 0.000 T 0.101 -0.224 2.918 4.42 0.881 1.561 8.671 -0.223829 NA 0.5 0.971847 0.992273 NA 0.942 NA 6.7862197 981 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 981 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 981 19 54664209 54664209 G C exonic TMC4 NA nonsynonymous SNV TMC4:NM_001145303:exon14:c.C2065G:p.Q689E,TMC4:NM_144686:exon14:c.C2047G:p.Q683E exonic ENSG00000167608 NA nonsynonymous SNV ENSG00000167608:ENST00000416963:exon7:c.C811G:p.Q271E,ENSG00000167608:ENST00000301187:exon14:c.C2047G:p.Q683E,ENSG00000167608:ENST00000376591:exon14:c.C2065G:p.Q689E NA NA 19q13.42 NA NA Name=26 NA rs36657 0.46 0.46 0.482 0.512181 0.5268 0.255 0.4597 0.6082 0.6697 0.53 0.24 0.48 0.6 0.5014 0.6 1 T 0.0 B 0.002 B 0.032 N 1.000 P -0.085 N -0.6 T -0.971 T 0.000 T 0.029 -0.432 1.992 -1.94 -0.205 -0.626 7.864 -0.431517 NA 1 0.519651 0.563323 ID=COSM1163606,COSM1163605;OCCURENCE=1(pancreas) 0.565 NA 6.7854824 981 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 982 6 118887303 118887303 T C exonic CEP85L NA nonsynonymous SNV CEP85L:NM_001042475:exon3:c.A409G:p.S137G,CEP85L:NM_206921:exon3:c.A409G:p.S137G,CEP85L:NM_001178035:exon4:c.A418G:p.S140G exonic ENSG00000111860 NA nonsynonymous SNV ENSG00000111860:ENST00000360290:exon3:c.A103G:p.S35G,ENSG00000111860:ENST00000368491:exon3:c.A409G:p.S137G,ENSG00000111860:ENST00000419517:exon3:c.A409G:p.S137G,ENSG00000111860:ENST00000368488:exon4:c.A418G:p.S140G,ENSG00000111860:ENST00000434604:exon4:c.A418G:p.S140G,ENSG00000111860:ENST00000392500:exon5:c.A418G:p.S140G NA NA 6q22.31 NA NA NA NA rs3734381 0.43 0.43 0.424 0.436901 0.5368 0.248 0.2939 0.5598 0.4642 0.54 0.24 0.33 0.55 0.4855 0.55 0.75 T 0.001 B 0.002 B 0.251 N 1.000 P 0.695 N 1.84 T -0.959 T 0.008 T 0.12 -0.322 2.471 -2.65 -0.699 0.109 1.108 -0.3218 NA 0.65 0.526628 0.551975 ID=COSM150174;OCCURENCE=1(stomach) 0.486 NA 6.7844054 982 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 982 9 136643994 136643994 T C exonic VAV2 NA nonsynonymous SNV VAV2:NM_003371:exon20:c.A1750G:p.M584V,VAV2:NM_001134398:exon22:c.A1780G:p.M594V exonic ENSG00000160293 NA nonsynonymous SNV ENSG00000160293:ENST00000371851:exon20:c.A1750G:p.M584V,ENSG00000160293:ENST00000406606:exon20:c.A1750G:p.M584V,ENSG00000160293:ENST00000371850:exon22:c.A1780G:p.M594V Score=477;Name=lod=116 NA 9q34.2 NA NA NA NA rs602990 0.46 0.46 0.474 0.495208 0.5189 0.0645 0.4798 0.8404 0.4591 0.53 0.03 0.48 0.84 0.5016 0.84 0.78 T 0.0 B 0.0 B 0.005 N 1.000 P -0.55 N 3.35 T -1.032 T 0.000 T 0.02 -0.758 0.795 1.91 0.116 0.920 13.649 -0.757601 NA 0.61 0.528953 0.804131 ID=COSM150742;OCCURENCE=1(stomach) 0.536 NA 6.7838804 982 1 207653395 207653395 C A exonic CR2 NA nonsynonymous SNV CR2:NM_001877:exon17:c.C3008A:p.A1003E,CR2:NM_001006658:exon18:c.C3185A:p.A1062E exonic ENSG00000117322 NA nonsynonymous SNV ENSG00000117322:ENST00000367059:exon16:c.C2822A:p.A941E,ENSG00000117322:ENST00000367058:exon17:c.C3008A:p.A1003E,ENSG00000117322:ENST00000458541:exon17:c.C2927A:p.A976E,ENSG00000117322:ENST00000367057:exon18:c.C3185A:p.A1062E Score=329;Name=lod=29 NA 1q32.2 NA NA NA NA rs17617 0.93 0.93 0.93 0.942891 0.837 1 0.9121 0.9962 0.9427 0.85 1 0.9 0.99 0.8835 1 1 T 0.0 B 0.0 B . . 0.997 P -0.805 N 1.64 T -0.955 T 0.000 T 0.082 -1.293 0.039 -2.09 -0.826 -0.173 0.278 -1.292762 NA 1 0.829107 0.975715 NA 0.906 NA 6.7837264 982 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=Sin3Ak-20,Nrf1,Max,PU.1,Egr-1,E2F6,E2F6_(H-50),Pol2,ELF1_(SC-631) 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 982 1 183876182 183876182 C T exonic RGL1 NA synonymous SNV RGL1:NM_015149:exon15:c.C1614T:p.D538D exonic ENSG00000143344 NA synonymous SNV ENSG00000143344:ENST00000539189:exon13:c.C1422T:p.D474D,ENSG00000143344:ENST00000360851:exon14:c.C1509T:p.D503D,ENSG00000143344:ENST00000304685:exon15:c.C1614T:p.D538D,ENSG00000143344:ENST00000367531:exon15:c.C1614T:p.D538D,ENSG00000143344:ENST00000536277:exon15:c.C1503T:p.D501D Score=593;Name=lod=344 NA 1q25.3 Score=880;Name=V$CREBP1_Q2 NA NA NA rs11591089 0.23 0.23 0.205 0.217053 0.3012 0.0754 0.2853 0.2201 0.2239 0.29 0.08 0.29 0.25 0.2844 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.853909 NA NA 0.297907 0.245801 ID=COSM146709;OCCURENCE=1(stomach) 0.203 NA 6.7831596 982 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 982 5 35709095 35709095 C T exonic SPEF2 NA nonsynonymous SNV SPEF2:NM_024867:exon19:c.C2711T:p.A904V exonic ENSG00000152582 NA nonsynonymous SNV ENSG00000152582:ENST00000356031:exon19:c.C2711T:p.A904V,ENSG00000152582:ENST00000440995:exon19:c.C2696T:p.A899V,ENSG00000152582:ENST00000509059:exon19:c.C2696T:p.A899V NA NA 5p13.2 NA NA NA NA rs13170082 0.74 0.74 0.755 NA NA NA NA NA NA 0.8 0.8 0.7 0.62 0.7556 0.8 0.32 T 0.001 B 0.002 B 0.803 N 1.000 P 0.55 N 3.36 T -1.043 T 0.000 T 0.033 1.668 11.54 -2.83 -0.687 -0.073 6.649 1.667681 1.667681 0.56 0.794984 0.672359 NA 0.674 NA 6.7827494 982 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 982 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 982 4 8603117 8603117 A T exonic CPZ NA nonsynonymous SNV CPZ:NM_003652:exon2:c.A356T:p.Q119L,CPZ:NM_001014447:exon3:c.A389T:p.Q130L exonic ENSG00000109625 NA nonsynonymous SNV ENSG00000109625:ENST00000315782:exon2:c.A356T:p.Q119L,ENSG00000109625:ENST00000360986:exon3:c.A389T:p.Q130L NA NA 4p16.1 NA NA NA NA rs35993494 0.09 0.09 0.094 0.101038 0.162 0.0446 0.0749 0.0408 0.1963 0.16 0.04 0.08 0.04 0.2072 0.18 1 T 0.001 B 0.003 B 0.566 N 0.000 P -0.05 N -0.97 T -1.090 T 0.000 T 0.055 0.194 5.045 0.837 -0.007 0.639 4.243 0.19396 NA 1 0.182845 0.072988 NA 0.043 NA 6.7812884 982 1 22919904 22919904 C T exonic EPHA8 NA synonymous SNV EPHA8:NM_020526:exon6:c.C1401T:p.N467N exonic ENSG00000070886 NA synonymous SNV ENSG00000070886:ENST00000166244:exon6:c.C1401T:p.N467N Score=574;Name=lod=288 NA 1p36.12 NA NA Name=7 NA rs209696 0.28 0.28 0.258 0.336262 0.2664 0.1726 0.353 0.3918 0.4898 0.27 0.15 0.34 0.39 0.3741 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178916 NA NA 0.244936 0.376479 NA 0.283 NA 6.7812306 982 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 982 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=BHLHE40,GR,ZNF263,STAT2,GTF2F1_(RAP-74),CEBPB,WHIP,YY1,Pol2(b),ELK4,TR4,TBP,STAT3,NRSF,SETDB1,Sin3Ak-20,GATA3_(SC-268),SIX5,Oct-2,BATF,c-Myc,SP1,IRF1,YY1_(C-20),ZZZ3,ELF1_(SC-631),KAP1,HEY1,HNF4G_(SC-6558),GABP,MEF2A,Pol2-4H8,TAF1,RFX5_(N-494),NFKB,Znf143_(16618-1-AP),IRF4_(M-17),POU2F2,HDAC2_(SC-6296),p300,TCF12,TAF7_(SQ-8),USF1_(SC-8983),CHD2_(N-1250),FOSL2,Pol2,Pol2(phosphoS2),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 982 19 56499279 56499279 G C exonic NLRP8 NA stoploss NLRP8:NM_176811:exon10:c.G3147C:p.X1049Y exonic ENSG00000179709 NA stoploss ENSG00000179709:ENST00000291971:exon10:c.G3147C:p.X1049Y,ENSG00000179709:ENST00000590542:exon10:c.G3090C:p.X1030Y NA NA 19q13.43 NA NA NA NA rs306457 0.73 0.73 0.71 0.724641 0.7406 0.623 0.7767 0.7163 0.7873 0.77 0.64 0.78 0.74 0.7426 0.78 . . . . . . . . 1.000 P . . . . . . . . . -1.448 0.02 0.372 -0.160 -1.284 7.840 -1.44793 NA 0.41 0.736395 0.72719 NA 0.63 NA 6.780405 982 1 226055595 226055595 G A exonic TMEM63A NA synonymous SNV TMEM63A:NM_014698:exon7:c.C507T:p.D169D exonic ENSG00000196187 NA synonymous SNV ENSG00000196187:ENST00000366835:exon7:c.C507T:p.D169D Score=414;Name=lod=64 NA 1q42.12 Score=861;Name=V$OLF1_01 NA NA NA rs2292564 0.38 0.38 0.354 0.430112 0.2624 0.5188 0.3127 0.5189 0.4744 0.25 0.49 0.3 0.5 0.3353 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.656069 NA NA 0.28907 0.439401 ID=COSM146795;OCCURENCE=1(stomach) 0.319 NA 6.7798966 982 6 166862233 166862233 T C exonic RPS6KA2 NA synonymous SNV RPS6KA2:NM_021135:exon14:c.A1311G:p.T437T,RPS6KA2:NM_001006932:exon15:c.A1335G:p.T445T exonic ENSG00000071242 NA synonymous SNV ENSG00000071242:ENST00000265678:exon14:c.A1311G:p.T437T,ENSG00000071242:ENST00000405189:exon14:c.A1044G:p.T348T,ENSG00000071242:ENST00000481261:exon14:c.A1044G:p.T348T,ENSG00000071242:ENST00000503859:exon15:c.A1335G:p.T445T,ENSG00000071242:ENST00000510118:exon16:c.A1386G:p.T462T Score=594;Name=lod=346 NA 6q27 NA Name=ZNF263 NA NA rs2230730 0.23 0.23 0.209 0.198882 0.3082 0.0764 0.2723 0.1876 0.1759 0.3 0.09 0.31 0.21 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 -1.50074 NA NA 0.300814 0.211303 NA 0.21 NA 6.7798526 982 19 38996990 38996990 T C exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon55:c.T8589C:p.S2863S,RYR1:NM_001042723:exon55:c.T8589C:p.S2863S exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon55:c.T8589C:p.S2863S,ENSG00000196218:ENST00000359596:exon55:c.T8589C:p.S2863S,ENSG00000196218:ENST00000360985:exon55:c.T8589C:p.S2863S Score=513;Name=lod=162 NA 19q13.2 NA NA NA NA rs2229146 0.36 0.36 0.327 0.408147 0.3072 0.3532 0.3674 0.4856 0.4928 0.32 0.32 0.35 0.46 0.3265 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.295982 NA NA 0.254186 0.429641 ID=COSM148614;OCCURENCE=1(stomach) 0.326 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079178.1|RCV000119753.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.7787806 982 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 982 13 76124151 76124151 C T intronic UCHL3 NA NA NA ncRNA_intronic ENSG00000261553 NA NA NA Score=265;Name=lod=16 NA 13q22.2 Score=768;Name=V$AHR_01 Name=Pol2,KAP1,ZEB1_(SC-25388) Name=2 NA rs8192738 0.48 0.48 0.461 0.407548 0.5378 0.6131 0.4164 0.1241 0.4387 0.54 0.67 0.48 0.16 0.4836 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 2.201464 2.201464 NA 0.534651 0.188833 NA 0.377 NA 6.7772823 982 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),CTCF,ZBTB33 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 982 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 982 8 72936145 72936145 T C exonic TRPA1 NA nonsynonymous SNV TRPA1:NM_007332:exon26:c.A3053G:p.H1018R exonic ENSG00000104321 NA nonsynonymous SNV ENSG00000104321:ENST00000523582:exon23:c.A2609G:p.H870R,ENSG00000104321:ENST00000262209:exon26:c.A3053G:p.H1018R NA NA 8q13.3 NA NA NA NA rs959976 0.19 0.19 0.176 0.160144 0.1978 0.3403 0.0793 0.0129 0.1922 0.2 0.36 0.1 0.03 0.1815 0.36 0.67 T 0.0 B 0.0 B 0.992 N 1.000 P -1.265 N 1.2 T -0.930 T 0.000 T 0.045 -0.451 1.912 0.875 0.094 0.327 9.369 -0.450582 NA 0.56 0.177581 0.050751 NA 0.159 NA 6.7764524 982 10 72500763 72500763 T C exonic ADAMTS14 NA nonsynonymous SNV ADAMTS14:NM_080722:exon12:c.T1769C:p.L590P,ADAMTS14:NM_139155:exon12:c.T1778C:p.L593P exonic ENSG00000138316 NA nonsynonymous SNV ENSG00000138316:ENST00000373207:exon12:c.T1769C:p.L590P,ENSG00000138316:ENST00000373208:exon12:c.T1778C:p.L593P NA NA 10q22.1 NA NA NA NA rs10823607 0.82 0.82 0.826 0.79992 0.8579 0.9097 0.7406 0.6657 0.8507 0.87 0.91 0.75 0.71 0.8399 0.91 0.1 T 0.0 B 0.004 B 0.630 N 1.000 P -1.245 N 3.83 T -1.036 T 0.000 T 0.032 1.276 10.17 -2.48 -0.501 1.136 5.555 1.276303 1.276303 0.33 0.859419 0.708579 NA 0.754 NA 6.7761144 982 3 13361287 13361287 C T exonic NUP210 NA nonsynonymous SNV NUP210:NM_024923:exon37:c.G5359A:p.V1787M exonic ENSG00000132182 NA nonsynonymous SNV ENSG00000132182:ENST00000254508:exon37:c.G5359A:p.V1787M Score=251;Name=lod=14 NA 3p25.1 NA NA NA NA rs354478 0.59 0.59 0.553 0.612021 0.5139 0.6984 0.621 0.5741 0.6687 0.52 0.66 0.59 0.6 0.5541 0.66 0.18 T 0.0 B 0.0 B 0.237 N 1.000 P -1.39 N 3.56 T -1.041 T 0.000 T 0.009 0.405 6.201 -1.13 -0.467 -0.130 1.046 0.405202 NA 0.27 0.489302 0.558783 NA 0.449 NA 6.7760314 982 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 982 7 157959911 157959911 A G exonic PTPRN2 NA nonsynonymous SNV PTPRN2:NM_130842:exon5:c.T571C:p.S191P,PTPRN2:NM_002847:exon6:c.T622C:p.S208P,PTPRN2:NM_130843:exon6:c.T622C:p.S208P exonic ENSG00000155093 NA nonsynonymous SNV ENSG00000155093:ENST00000389416:exon5:c.T571C:p.S191P,ENSG00000155093:ENST00000409483:exon5:c.T508C:p.S170P,ENSG00000155093:ENST00000389413:exon6:c.T622C:p.S208P,ENSG00000155093:ENST00000389418:exon6:c.T622C:p.S208P,ENSG00000155093:ENST00000404321:exon6:c.T691C:p.S231P NA NA 7q36.3 NA NA NA NA rs1130495 0.89 0.89 0.883 0.871206 0.8569 0.874 0.902 0.9183 0.7975 0.85 0.91 0.9 0.9 0.8561 0.91 0.25 T 0.0 B 0.001 B 0.916 N 1.000 P -0.55 N 3.94 T -1.030 T 0.000 T 0.078 -0.21 2.98 -9.18 -2.314 -0.798 2.831 -0.210443 NA 0.32 0.845 0.89537 NA 0.884 NA 6.7753334 982 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 983 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 983 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 983 18 74962645 74962645 T C exonic GALR1 NA synonymous SNV GALR1:NM_001480:exon1:c.T141C:p.G47G exonic ENSG00000166573 NA synonymous SNV ENSG00000166573:ENST00000299727:exon1:c.T141C:p.G47G Score=587;Name=lod=324 NA 18q23 NA Name=SUZ12 Name=2 NA rs5374 0.51 0.51 0.547 0.489816 0.665 0.374 0.4438 0.4493 0.5164 0.65 0.34 0.48 0.51 0.5824 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.615757 1.615757 NA 0.645034 0.477077 ID=COSM1389815;OCCURENCE=1(large_intestine) 0.543 NA 6.7742326 983 4 183815688 183815688 A G exonic DCTD NA synonymous SNV DCTD:NM_001012732:exon4:c.T348C:p.V116V,DCTD:NM_001921:exon4:c.T315C:p.V105V exonic ENSG00000129187 NA synonymous SNV ENSG00000129187:ENST00000357067:exon4:c.T348C:p.V116V,ENSG00000129187:ENST00000438320:exon4:c.T315C:p.V105V,ENSG00000129187:ENST00000503182:exon4:c.T315C:p.V105V,ENSG00000129187:ENST00000510307:exon4:c.T315C:p.V105V,ENSG00000129187:ENST00000510370:exon5:c.T315C:p.V105V,ENSG00000129187:ENST00000512766:exon6:c.T315C:p.V105V Score=454;Name=lod=93 NA 4q35.1 Score=844;Name=V$RFX1_01 NA NA NA rs4742 0.3 0.3 0.294 0.310703 0.2913 0.2202 0.1974 0.5182 0.2239 0.28 0.19 0.23 0.49 0.2947 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.018965 NA NA 0.306512 0.511575 NA 0.355 NA 6.7741546 983 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 983 12 54394497 54394497 C T exonic HOXC9 NA synonymous SNV HOXC9:NM_006897:exon1:c.C525T:p.A175A exonic ENSG00000180806 NA synonymous SNV ENSG00000180806:ENST00000303450:exon1:c.C525T:p.A175A,ENSG00000180806:ENST00000508190:exon2:c.C525T:p.A175A Score=789;Name=lod=2150 NA 12q13.13 NA Name=CCNT2,Ini1 Name=90 NA rs2241820 0.62 0.62 0.632 0.578075 0.6014 0.7609 0.5346 0.4667 0.547 0.6 0.77 0.55 0.5 0.6682 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 0.650557 NA NA 0.623302 0.567085 NA 0.652 NA 6.7737646 983 12 120884328 120884328 C T exonic GATC NA synonymous SNV GATC:NM_176818:exon1:c.C45T:p.G15G exonic ENSG00000257218 NA synonymous SNV ENSG00000257218:ENST00000548171:exon1:c.C45T:p.G15G,ENSG00000257218:ENST00000551765:exon1:c.C45T:p.G15G NA NA 12q24.31 NA Name=p300,HDAC2_(SC-6296),TAF7_(SQ-8),POU2F2,USF2,Pol2,HA-E2F1,CHD2_(N-1250),GRp20,HEY1,ELF1_(SC-631),ETS1,ATF3,GATA-1,HMGN3,ZEB1_(SC-25388),TAF1,IRF4_(M-17),NFKB,Pol2-4H8,GABP,MEF2A,SETDB1,Sin3Ak-20,SIX5,eGFP-JunD,E2F4,PAX5-C20,Mxi1_(bHLH),TCF4,c-Myc,Oct-2,SRF,SPT20,SP1,ZNF263,GTF2F1_(RAP-74),MafK_(SC-477),PAX5-N19,Pol2(b),TBP,CCNT2,Egr-1,CEBPB,BRF2 Name=142 NA rs2235217 0.28 0.28 0.23 0.259385 0.2783 0.4901 0.2579 0.0794 0.2464 0.28 0.47 0.24 0.1 0.299 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77257 NA NA 0.31631 0.105765 NA 0.225 NA 6.7730566 983 1 226923264 226923264 G A exonic ITPKB NA synonymous SNV ITPKB:NM_002221:exon2:c.C1896T:p.A632A exonic ENSG00000143772 NA synonymous SNV ENSG00000143772:ENST00000272117:exon1:c.C1896T:p.A632A,ENSG00000143772:ENST00000366784:exon2:c.C1896T:p.A632A,ENSG00000143772:ENST00000429204:exon2:c.C1896T:p.A632A Score=556;Name=lod=242 NA 1q42.12 Score=817;Name=V$RREB1_01 NA NA NA rs708775 0.29 0.29 0.29 0.28155 0.3141 0.2639 0.317 0.2428 0.2935 0.32 0.27 0.31 0.24 0.2858 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.476336 1.476336 NA 0.294186 0.25488 ID=COSM146796;OCCURENCE=1(stomach) 0.29 NA 6.7725806 983 14 57948380 57948380 T C splicing C14orf105 NM_018168:exon5:c.394-2A>G NA NA splicing ENSG00000100557 ENST00000216445:exon5:c.394-2A>G NA NA Score=419;Name=lod=67 NA 14q22.3 NA NA Name=2 NA rs1152522 0.69 0.69 0.628 0.685104 0.7465 0.9613 0.7622 0.2375 0.8875 0.75 0.95 0.76 0.23 0.7371 0.95 . . . . . . . . 0.000 P . . . . . . . . . 0.088 4.474 2.75 0.805 0.278 5.919 0.087862 NA NA 0.744767 0.312443 NA 0.659 NA 6.771633 983 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 983 2 73478461 73478461 A T exonic CCT7 NA synonymous SNV CCT7:NM_001009570:exon6:c.A699T:p.A233A,CCT7:NM_001166284:exon9:c.A1050T:p.A350A,CCT7:NM_006429:exon11:c.A1311T:p.A437A,CCT7:NM_001166285:exon12:c.A1179T:p.A393A exonic ENSG00000135624 NA synonymous SNV ENSG00000135624:ENST00000398422:exon6:c.A699T:p.A233A,ENSG00000135624:ENST00000540468:exon9:c.A1050T:p.A350A,ENSG00000135624:ENST00000537131:exon10:c.A1011T:p.A337A,ENSG00000135624:ENST00000538797:exon10:c.A927T:p.A309A,ENSG00000135624:ENST00000258091:exon11:c.A1311T:p.A437A,ENSG00000135624:ENST00000539919:exon12:c.A1179T:p.A393A NA NA 2p13.2 Score=896;Name=V$NF1_Q6 NA Name=5 NA rs7851 0.29 0.29 0.284 0.254193 0.3101 0.3611 0.2968 0.118 0.2403 0.29 0.39 0.33 0.13 0.2789 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.849517 NA NA 0.30667 0.151398 ID=COSM148877;OCCURENCE=1(stomach) 0.355 NA 6.7709966 983 3 153839960 153839960 T C exonic ARHGEF26 NA nonsynonymous SNV ARHGEF26:NM_001251962:exon2:c.T179C:p.L60P,ARHGEF26:NM_001251963:exon2:c.T179C:p.L60P,ARHGEF26:NM_015595:exon2:c.T179C:p.L60P exonic ENSG00000114790 NA nonsynonymous SNV ENSG00000114790:ENST00000356448:exon2:c.T179C:p.L60P,ENSG00000114790:ENST00000465093:exon2:c.T179C:p.L60P,ENSG00000114790:ENST00000465817:exon2:c.T179C:p.L60P,ENSG00000114790:ENST00000496710:exon2:c.T179C:p.L60P NA NA 3q25.2 NA NA NA NA rs12497267 0.86 0.86 0.857 0.949681 0.8648 0.9911 0.9308 0.9826 0.9632 0.74 0.95 0.85 0.94 0.9079 0.95 0.52 T 0.0 B 0.0 B 0.183 N 1.000 P -0.805 N 2.29 T -0.992 T 0.000 T 0.042 -2.221 0.005 3.62 0.346 0.962 10.265 -2.221097 NA 1 0.790053 0.949321 NA 0.326 NA 6.7705804 983 5 1081767 1081767 C T exonic SLC12A7 NA nonsynonymous SNV SLC12A7:NM_006598:exon9:c.G1222A:p.A408T exonic ENSG00000113504 NA nonsynonymous SNV ENSG00000113504:ENST00000264930:exon9:c.G1222A:p.A408T NA NA 5p15.33 NA NA NA NA rs4526148 0.52 0.52 0.502 0.530351 0.5209 0.6677 0.6513 0.3253 0.59 0.51 0.68 0.61 0.28 0.5291 0.68 0.76 T 0.0 B 0.0 B 0.997 N 1.000 P 0.895 L -1.85 D -0.943 T 0.000 T 0.002 0.113 4.61 -0.282 -0.053 -0.070 3.716 0.113365 NA 0.59 0.513023 0.344076 NA 0.514 NA 6.7703104 983 19 52000624 52000624 T G exonic SIGLEC12 NA nonsynonymous SNV SIGLEC12:NM_033329:exon5:c.A1127C:p.Y376S,SIGLEC12:NM_053003:exon6:c.A1481C:p.Y494S exonic ENSG00000254521 NA nonsynonymous SNV ENSG00000254521:ENST00000598614:exon5:c.A1127C:p.Y376S,ENSG00000254521:ENST00000291707:exon6:c.A1481C:p.Y494S NA NA 19q13.41 NA Name=CTCF NA NA rs3752135 0.81 0.81 0.832 0.831669 0.8588 0.5367 0.9063 0.9735 0.863 0.85 0.56 0.91 0.97 0.8466 0.97 0.89 T 0.0 B 0.0 B 0.720 N 1.000 P -2.215 N 1.29 T -0.953 T 0.000 T 0.048 -0.576 1.409 -1.13 -0.635 -1.244 0.635 -0.576156 NA 0.43 0.857674 0.947571 NA 0.884 NA 6.7702594 983 1 67560956 67560956 C T exonic C1orf141 NA nonsynonymous SNV C1orf141:NM_001276351:exon7:c.G565A:p.V189I exonic ENSG00000203963 NA nonsynonymous SNV ENSG00000203963:ENST00000371006:exon5:c.G565A:p.V189I,ENSG00000203963:ENST00000371007:exon7:c.G565A:p.V189I,ENSG00000203963:ENST00000544837:exon7:c.G565A:p.V189I,ENSG00000203963:ENST00000448166:exon9:c.G778A:p.V260I Score=436;Name=lod=79 NA 1p31.3 NA NA NA NA rs11208997 0.91 0.91 0.915 0.938498 0.8141 0.9722 0.915 0.9879 0.9816 0.81 0.97 0.91 0.99 0.8923 0.99 1 T 0.0 B 0.0 B 0.052 N 0.000 P -0.975 N 2.09 T -0.913 T 0.005 T 0.198 -1.236 0.056 4.38 0.462 0.833 7.485 -1.235736 NA 1 0.856977 0.965016 NA 0.913 NA 6.7699564 983 12 120966921 120966921 A G exonic COQ5 NA synonymous SNV COQ5:NM_032314:exon1:c.T24C:p.A8A exonic ENSG00000110871 NA synonymous SNV ENSG00000110871:ENST00000288532:exon1:c.T24C:p.A8A,ENSG00000110871:ENST00000445328:exon1:c.T24C:p.A8A,ENSG00000110871:ENST00000547943:exon1:c.T24C:p.A8A NA NA 12q24.31 NA Name=NFKB,TAF1,c-Jun,SP2_(SC-643),Pol2-4H8,HNF4G_(SC-6558),ELF1_(SC-631),HEY1,ATF3,Pol2(phosphoS2),USF-1,FOXA1_(C-20),FOSL2,Pol2,GATA-2,HA-E2F1,TAF7_(SQ-8),POU2F2,Egr-1,TR4,CCNT2,TBP,Pol2(b),ZBTB7A_(SC-34508),CEBPB,YY1,GTF2F1_(RAP-74),GR,JunD,YY1_(C-20),TCF4,SP1,IRF1,Oct-2,BATF,c-Myc,RXRA,eGFP-JunD,Sin3Ak-20,GATA3_(SC-268),NRSF Name=147 NA rs3742052 0.29 0.29 0.256 0.264577 0.2783 0.4921 0.2579 0.0809 0.2689 0.28 0.48 0.24 0.11 0.307 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.977461 NA NA 0.311468 0.105813 NA 0.232 NA 6.7698986 983 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 983 12 80735771 80735771 T C exonic OTOGL NA synonymous SNV OTOGL:NM_173591:exon43:c.T5067C:p.N1689N exonic ENSG00000165899 NA synonymous SNV ENSG00000165899:ENST00000458043:exon43:c.T5067C:p.N1689N,ENSG00000165899:ENST00000547103:exon43:c.T5031C:p.N1677N Score=625;Name=lod=463 NA 12q21.31 NA NA NA NA rs10778727 0.53 0.53 0.507 0.494808 0.6451 0.6935 0.4885 0.1823 0.5624 0.64 0.68 0.5 0.21 0.6151 0.68 . . . . . . . . 0.000 P . . . . -0.965 T 0.000 T . 0.957 8.902 2.69 0.875 0.264 5.372 0.956673 NA NA 0.637952 0.285596 NA 0.536 NA 6.7685146 983 2 39025555 39025555 G A exonic DHX57 NA synonymous SNV DHX57:NM_198963:exon24:c.C4047T:p.C1349C exonic ENSG00000163214 NA synonymous SNV ENSG00000163214:ENST00000295373:exon24:c.C4047T:p.C1349C NA NA 2p22.1 NA NA NA NA rs1530853 0.61 0.61 0.566 0.588059 0.6441 0.7857 0.5821 0.3139 0.7014 0.66 0.8 0.59 0.31 0.623 0.8 . . . . . . . . 0.000 P . . . . . . . . . 0.486 6.637 -10.8 -2.701 -1.137 15.969 0.485909 NA NA 0.632093 0.363822 NA 0.514 NA 6.7674736 983 15 35273620 35273620 C T exonic ZNF770 NA synonymous SNV ZNF770:NM_014106:exon3:c.G2016A:p.Q672Q exonic ENSG00000198146 NA synonymous SNV ENSG00000198146:ENST00000356321:exon3:c.G2016A:p.Q672Q Score=556;Name=lod=243 NA 15q14 NA NA Name=8 NA rs4923849 0.46 0.46 0.457 0.469249 0.2684 0.376 0.4611 0.879 0.2239 0.27 0.37 0.43 0.87 0.3465 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 -0.24717 NA NA 0.284551 0.792955 NA 0.457 NA 6.7672156 984 5 80149981 80149981 A G exonic MSH3 NA nonsynonymous SNV MSH3:NM_002439:exon21:c.A2846G:p.Q949R exonic ENSG00000113318 NA nonsynonymous SNV ENSG00000113318:ENST00000265081:exon21:c.A2846G:p.Q949R Score=585;Name=lod=319 NA 5q14.1 NA NA NA NA rs184967 0.89 0.89 0.903 0.902157 0.8598 1 0.8732 0.8956 0.8742 0.86 1 0.85 0.86 0.8731 1 . . 0.0 B 0.001 B 0.000 N 1.000 P -0.185 N -1.93 D -0.948 T 0.000 T 0.023 0.477 6.591 0.287 -0.255 0.401 12.456 0.47738 NA 1 0.835465 0.893781 NA 0.906 NA 6.7649684 984 8 52746153 52746153 C T exonic PCMTD1 NA synonymous SNV PCMTD1:NM_052937:exon4:c.G507A:p.V169V exonic ENSG00000168300 NA synonymous SNV ENSG00000168300:ENST00000544451:exon2:c.G279A:p.V93V,ENSG00000168300:ENST00000522514:exon4:c.G507A:p.V169V,ENSG00000168300:ENST00000360540:exon5:c.G507A:p.V169V Score=715;Name=lod=1072 NA 8q11.23 Score=858;Name=V$ZID_01 NA NA NA rs9298462 0.44 0.44 0.385 0.445887 0.6292 0.4802 0.6268 0.0514 0.6268 0.61 0.44 0.61 0.06 0.5948 0.68 . . . . . . . . 0.000 P . . . . -0.974 T 0.000 T . 2.822 15.4 0.404 -0.486 -0.023 1.692 2.822254 2.822254 NA 0.677791 0.163414 NA 0.493 NA 6.7648756 984 15 90210257 90210257 G A exonic PLIN1 NA synonymous SNV PLIN1:NM_001145311:exon8:c.C1119T:p.V373V,PLIN1:NM_002666:exon8:c.C1119T:p.V373V exonic ENSG00000166819 NA synonymous SNV ENSG00000166819:ENST00000300055:exon8:c.C1119T:p.V373V,ENSG00000166819:ENST00000430628:exon8:c.C1119T:p.V373V NA NA 15q26.1 Score=733;Name=V$MYOGNF1_01 NA NA NA rs2304796 0.26 0.26 0.24 0.282149 0.3062 0.3472 0.219 0.1566 0.4049 0.29 0.34 0.22 0.17 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 -1.178983 NA NA 0.308676 0.180227 NA 0.152 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117992.2;CLNDSDB=.;CLNDSDBID=. 6.7640906 984 1 248525780 248525780 C T exonic OR2T4 NA nonsynonymous SNV OR2T4:NM_001004696:exon1:c.C898T:p.P300S exonic ENSG00000196944 NA nonsynonymous SNV ENSG00000196944:ENST00000366475:exon1:c.C898T:p.P300S NA NA 1q44 NA NA NA NA rs28698997 0.28 0.28 0.247 0.294329 0.1799 0.4276 0.2709 0.2405 0.364 0.19 0.42 0.23 0.28 0.2271 0.42 0.06 T 0.34 B 0.279 B 0.048 N 1.000 P 1.1 L 8.6 T -1.106 T 0.000 T 0.087 1.3 10.26 0.732 0.407 -0.266 4.711 1.299887 1.299887 0.06 0.162791 0.241262 NA 0.145 NA 6.7635424 984 4 6303022 6303022 C T exonic WFS1 NA synonymous SNV WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N exonic ENSG00000109501 NA synonymous SNV ENSG00000109501:ENST00000226760:exon8:c.C1500T:p.N500N,ENSG00000109501:ENST00000503569:exon8:c.C1500T:p.N500N Score=321;Name=lod=27 Name=Type 2 diabetes 4p16.1 NA NA NA NA rs1801214 0.73 0.73 0.725 0.729433 0.6352 0.9077 0.7046 0.6921 0.7106 0.63 0.94 0.69 0.69 0.6595 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 -2.092003 NA NA 0.609767 0.67635 NA 0.659 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000038641.4;CLNDSDB=.;CLNDSDBID=. 6.7621996 984 20 23028724 23028724 G A exonic THBD NA nonsynonymous SNV THBD:NM_000361:exon1:c.C1418T:p.A473V exonic ENSG00000178726 NA nonsynonymous SNV ENSG00000178726:ENST00000377103:exon1:c.C1418T:p.A473V NA NA 20p11.21 NA NA NA NA rs1042579 0.16 0.16 0.13 0.164537 0.1928 0.3046 0.147 0.0219 0.1963 0.2 0.26 0.14 0.01 0.1997 0.26 0.42 T 0.0 B 0.0 B 0.341 N 1.000 P 0.84 L -1.31 T -1.142 T 0.000 T 0.005 1.052 9.297 -1.34 -0.087 -0.195 4.311 1.052227 NA 0.21 0.179186 0.057221 NA 0.094 NA 6.7616474 984 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 984 11 88045583 88045583 A G exonic CTSC NA nonsynonymous SNV CTSC:NM_001814:exon3:c.T458C:p.I153T exonic ENSG00000109861 NA nonsynonymous SNV ENSG00000109861:ENST00000227266:exon3:c.T458C:p.I153T NA NA 11q14.2 NA NA NA NA rs217086 0.91 0.91 0.902 0.930911 0.8479 0.999 0.9251 0.9251 0.9581 0.85 1 0.91 0.91 0.8861 1 . . 0.0 B 0.0 B 0.020 N 1.000 P -1.87 N -0.42 T -0.941 T 0.000 T 0.333 0.323 5.75 -9.46 -2.143 -0.617 12.511 0.322871 NA 0.65 0.839846 0.911404 NA 0.957 NA 6.7594874 984 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 984 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 984 2 73461483 73461483 C A UTR5 CCT7 NM_006429:c.-24C>A,NM_001166285:c.-5414C>A,NM_001166284:c.-24C>A,NM_001009570:c.-24C>A NA NA UTR5 ENSG00000135624 ENST00000539919:c.-5414C>A,ENST00000540468:c.-24C>A,ENST00000258091:c.-24C>A,ENST00000398422:c.-24C>A,ENST00000399032:c.-5414C>A,ENST00000537131:c.-5433C>A,ENST00000409924:c.-24C>A,ENST00000538797:c.-8713C>A NA NA Score=309;Name=lod=24 NA 2p13.2 NA Name=JunD,GTF2F1_(RAP-74),CEBPB,YY1,NANOG_(SC-33759),PU.1,HNF4A_(H-171),Pol2(b),ELK4,Egr-1,TBP,CCNT2,NRSF,HSF1,Oct-2,c-Myc,SP1,IRF1,SRF,PGC1A,YY1_(C-20),ZZZ3,BCLAF1_(M33-P5B11),STAT1,ELF1_(SC-631),HEY1,ETS1,NELFe,SP2_(SC-643),GABP,Pol2-4H8,TAF1,ZEB1_(SC-25388),Znf143_(16618-1-AP),NFKB,BCL3,POU2F2,GTF2B,HDAC2_(SC-6296),p300,TCF12,TAF7_(SQ-8),Pol2,Pol2(phosphoS2) Name=148 NA rs1053329 0.28 0.28 0.316 0.244409 0.2992 0.3681 0.2911 0.1097 0.2096 0.28 0.4 0.33 0.12 0.2766 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.011695 NA NA NA NA NA 0.355 NA 6.7575334 984 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 984 18 45555829 45555829 T C exonic ZBTB7C NA synonymous SNV ZBTB7C:NM_001039360:exon3:c.A1662G:p.T554T exonic ENSG00000184828 NA synonymous SNV ENSG00000184828:ENST00000332053:exon2:c.A1662G:p.T554T,ENSG00000184828:ENST00000535628:exon3:c.A1662G:p.T554T,ENSG00000184828:ENST00000586438:exon3:c.A1662G:p.T554T,ENSG00000184828:ENST00000588982:exon4:c.A1662G:p.T554T,ENSG00000184828:ENST00000590800:exon5:c.A1662G:p.T554T Score=611;Name=lod=406 NA 18q21.1 NA Name=E2F6_(H-50) NA NA rs7231151 0.38 0.38 0.358 0.411542 0.2594 0.4673 0.366 0.562 0.3395 0.27 0.43 0.33 0.53 0.374 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.199884 NA NA 0.275983 0.465328 NA 0.254 NA 6.7572836 984 19 6586268 6586268 G A exonic CD70 NA synonymous SNV CD70:NM_001252:exon3:c.C345T:p.C115C exonic ENSG00000125726 NA synonymous SNV ENSG00000125726:ENST00000245903:exon3:c.C345T:p.C115C,ENSG00000125726:ENST00000423145:exon3:c.C345T:p.C115C Score=284;Name=lod=19 NA 19p13.3 NA Name=Pol2-4H8 NA NA rs1862511 0.36 0.36 0.335 0.350639 0.3022 0.6756 0.2464 0.1876 0.3599 0.32 0.65 0.24 0.17 0.3201 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.771631 NA NA 0.287907 0.214934 NA 0.181 NA 6.7564596 984 22 22989256 22989256 A G exonic GGTLC2 NA nonsynonymous SNV GGTLC2:NM_199127:exon2:c.A209G:p.E70G exonic ENSG00000100121 NA nonsynonymous SNV ENSG00000100121:ENST00000448514:exon2:c.A209G:p.E70G,ENSG00000100121:ENST00000480559:exon2:c.A209G:p.E70G Score=590;Name=lod=332 NA 22q11.22 NA NA NA NA rs2904923 0.86 0.86 0.89 0.953075 0.8519 1 0.9452 0.9955 0.9571 0.77 0.96 0.84 0.89 0.8959 0.97 1 T 0.0 B 0.0 B 0.000 N 1.000 P -4.51 N 6.35 T -0.925 T 0.000 T 0.056 -1.313 0.035 . -0.000 4.302 2.665 -1.312951 NA 1 0.829104 0.967998 ID=COSM1130493;OCCURENCE=1(prostate) 0.065 NA 6.7564294 984 4 186381115 186381115 G T exonic CCDC110 NA nonsynonymous SNV CCDC110:NM_001145411:exon5:c.C515A:p.P172Q,CCDC110:NM_152775:exon6:c.C626A:p.P209Q exonic ENSG00000168491 NA nonsynonymous SNV ENSG00000168491:ENST00000393540:exon5:c.C515A:p.P172Q,ENSG00000168491:ENST00000307588:exon6:c.C626A:p.P209Q,ENSG00000168491:ENST00000510617:exon6:c.C626A:p.P209Q,ENSG00000168491:ENST00000506876:exon7:c.C686A:p.P229Q NA NA 4q35.1 NA NA NA NA rs7699687 0.39 0.39 0.383 0.385583 0.5378 0.2827 0.3631 0.2837 0.4888 0.53 0.28 0.41 0.31 0.476 0.56 1 T 0.0 B 0.0 B 0.128 N 1.000 P -2.045 N 3.7 T -0.913 T 0.000 T 0.237 -2.589 0 1.82 -0.137 1.049 8.357 -2.589066 NA 1 0.563721 0.330909 NA 0.449 NA 6.7558124 985 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 985 4 186380846 186380846 A T exonic CCDC110 NA nonsynonymous SNV CCDC110:NM_001145411:exon5:c.T784A:p.L262M,CCDC110:NM_152775:exon6:c.T895A:p.L299M exonic ENSG00000168491 NA nonsynonymous SNV ENSG00000168491:ENST00000393540:exon5:c.T784A:p.L262M,ENSG00000168491:ENST00000307588:exon6:c.T895A:p.L299M,ENSG00000168491:ENST00000510617:exon6:c.T895A:p.L299M NA NA 4q35.1 NA NA NA NA rs7698680 0.39 0.39 0.399 0.385583 0.5378 0.2827 0.3631 0.2837 0.4888 0.53 0.28 0.41 0.31 0.4765 0.56 1 T 0.0 B 0.0 B 0.981 N 1.000 P -1.04 N 3.37 T -0.944 T 0.000 T 0.027 -3.256 0.001 2.03 0.139 -0.753 3.807 -3.256225 NA 0.99 0.564449 0.335377 ID=COSM447676;OCCURENCE=1(breast) 0.449 NA 6.7545844 985 1 35259961 35259961 A G exonic GJA4 NA synonymous SNV GJA4:NM_002060:exon2:c.A147G:p.Q49Q exonic ENSG00000187513 NA synonymous SNV ENSG00000187513:ENST00000342280:exon2:c.A147G:p.Q49Q,ENSG00000187513:ENST00000450137:exon2:c.A147G:p.Q49Q Score=506;Name=lod=152 NA 1p34.3 Score=800;Name=V$GFI1_01 NA Name=17 NA rs1764390 0.64 0.64 0.662 0.621406 0.6481 0.4841 0.513 0.8533 0.499 0.65 0.5 0.57 0.83 0.6175 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 -0.468732 NA NA 0.646977 0.821607 NA 0.638 NA 6.7540896 985 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 985 11 8115699 8115699 T C exonic TUB NA synonymous SNV TUB:NM_177972:exon4:c.T360C:p.G120G,TUB:NM_003320:exon5:c.T525C:p.G175G exonic ENSG00000166402 NA synonymous SNV ENSG00000166402:ENST00000299506:exon4:c.T360C:p.G120G,ENSG00000166402:ENST00000534099:exon4:c.T378C:p.G126G,ENSG00000166402:ENST00000305253:exon5:c.T525C:p.G175G Score=562;Name=lod=257 NA 11p15.4 NA NA Name=5 NA rs4758289 0.34 0.34 0.307 0.398762 0.2555 0.5258 0.4467 0.3805 0.4059 0.24 0.49 0.38 0.31 0.3582 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.156622 NA NA 0.299465 0.345298 NA 0.239 NA 6.7535016 985 3 38081031 38081031 A T exonic DLEC1 NA synonymous SNV DLEC1:NM_007335:exon1:c.A315T:p.S105S,DLEC1:NM_007337:exon1:c.A315T:p.S105S exonic ENSG00000008226 NA synonymous SNV ENSG00000008226:ENST00000308059:exon1:c.A315T:p.S105S,ENSG00000008226:ENST00000346219:exon1:c.A315T:p.S105S,ENSG00000008226:ENST00000452631:exon1:c.A315T:p.S105S NA NA 3p22.2 NA Name=SUZ12 Name=15 NA rs7616776 0.36 0.36 0.332 0.342452 0.3032 0.5546 0.3429 0.2927 0.2311 0.29 0.54 0.34 0.28 0.3161 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204602 NA NA 0.294083 0.298939 NA 0.355 NA 6.7532836 985 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 985 5 128430757 128430757 T C exonic ISOC1 NA synonymous SNV ISOC1:NM_016048:exon1:c.T298C:p.L100L exonic ENSG00000066583 NA synonymous SNV ENSG00000066583:ENST00000173527:exon1:c.T298C:p.L100L Score=684;Name=lod=805 NA 5q23.3 NA Name=ZNF263,CCNT2,c-Myc,HEY1,TAF1,E2F6,CTCF,Pol2 Name=141 NA rs1127827 0.76 0.76 0.741 0.80651 0.6004 0.8661 0.7464 0.9682 0.7812 0.61 0.87 0.67 0.95 0.7043 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 1.869247 1.869247 NA 0.609032 0.906325 NA 0.703 NA 6.7529346 985 21 46908355 46908355 T C exonic COL18A1 NA synonymous SNV COL18A1:NM_030582:exon17:c.T2460C:p.L820L,COL18A1:NM_130445:exon18:c.T1920C:p.L640L exonic ENSG00000182871 NA synonymous SNV ENSG00000182871:ENST00000355480:exon17:c.T2460C:p.L820L,ENSG00000182871:ENST00000359759:exon17:c.T3165C:p.L1055L,ENSG00000182871:ENST00000400337:exon18:c.T1920C:p.L640L Score=272;Name=lod=17 NA 21q22.3 NA NA Name=12 NA rs11702425 0.32 0.32 0.312 0.319888 0.3131 0.254 0.3084 0.3797 0.3221 0.3 0.28 0.31 0.42 0.3052 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178709 NA NA 0.295862 0.348286 NA 0.37 NA 6.7525046 985 17 40125864 40125864 G A exonic CNP NA synonymous SNV CNP:NM_033133:exon4:c.G1188A:p.G396G exonic ENSG00000173786 NA synonymous SNV ENSG00000173786:ENST00000591072:exon3:c.G483A:p.G161G,ENSG00000173786:ENST00000393888:exon4:c.G1128A:p.G376G,ENSG00000173786:ENST00000393892:exon4:c.G1188A:p.G396G NA NA 17q21.2 Score=829;Name=V$YY1_02 Name=Pol2 NA NA rs2070106 0.26 0.26 0.235 0.27516 0.2843 0.4157 0.2406 0.0756 0.4151 0.28 0.38 0.26 0.1 0.3091 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.283194 NA NA 0.320764 0.099656 NA 0.304 NA 6.7525026 985 11 65623519 65623519 G A exonic CFL1 NA synonymous SNV CFL1:NM_005507:exon2:c.C198T:p.D66D exonic ENSG00000172757 NA synonymous SNV ENSG00000172757:ENST00000530413:exon1:c.C147T:p.D49D,ENSG00000172757:ENST00000308162:exon2:c.C198T:p.D66D,ENSG00000172757:ENST00000524553:exon2:c.C147T:p.D49D,ENSG00000172757:ENST00000527344:exon2:c.C147T:p.D49D,ENSG00000172757:ENST00000531407:exon2:c.C147T:p.D49D,ENSG00000172757:ENST00000531413:exon2:c.C147T:p.D49D,ENSG00000172757:ENST00000534769:exon2:c.C312T:p.D104D,ENSG00000172757:ENST00000534784:exon2:c.C147T:p.D49D,ENSG00000172757:ENST00000525451:exon3:c.C198T:p.D66D,ENSG00000172757:ENST00000526975:exon3:c.C198T:p.D66D,ENSG00000172757:ENST00000532134:exon3:c.C198T:p.D66D Score=650;Name=lod=586 NA 11q13.1 Score=948;Name=V$ZIC1_01 Name=SP1,CEBPB,CTCF_(SC-5916),Pol2-4H8 NA NA rs4621 0.45 0.45 0.442 0.427915 0.668 0.3313 0.4063 0.2012 0.6022 0.67 0.3 0.49 0.24 0.5787 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 0.829804 NA NA 0.667675 0.261699 NA 0.478 NA 6.7522916 985 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 985 11 65631167 65631167 C T exonic MUS81 NA synonymous SNV MUS81:NM_025128:exon9:c.C936T:p.A312A exonic ENSG00000172732 NA synonymous SNV ENSG00000172732:ENST00000308110:exon9:c.C936T:p.A312A,ENSG00000172732:ENST00000533035:exon9:c.C711T:p.A237A NA NA 11q13.1 NA NA NA NA rs648732 0.45 0.45 0.451 0.428115 0.668 0.3323 0.4063 0.2012 0.6022 0.67 0.3 0.49 0.24 0.5789 0.67 . . . . . . . . 0.000 P . . . . -0.970 T 0.000 T . -0.596 1.335 -11.1 -2.125 -1.084 1.730 -0.595788 NA NA 0.667947 0.261245 NA 0.478 NA 6.7518196 985 17 73774877 73774877 G A intronic H3F3B NA NA NA exonic ENSG00000132475 NA nonsynonymous SNV ENSG00000132475:ENST00000587171:exon3:c.C296T:p.P99L NA NA 17q25.1 NA Name=Pol2(b),Pol2,TAF7_(SQ-8),Pol2-4H8,HEY1 Name=12 NA rs9895763 0.14 0.14 0.152 0.170727 0.1243 0.0159 0.1239 0.3071 0.227 0.12 0.02 0.14 0.32 0.1469 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.004943 NA NA 0.143721 0.252837 NA 0.159 NA 6.7517457 985 3 39185077 39185077 G A exonic CSRNP1 NA synonymous SNV CSRNP1:NM_033027:exon5:c.C1239T:p.S413S exonic ENSG00000144655 NA synonymous SNV ENSG00000144655:ENST00000273153:exon5:c.C1239T:p.S413S,ENSG00000144655:ENST00000514182:exon5:c.C1239T:p.S413S NA NA 3p22.2 Score=857;Name=V$P300_01 Name=Pol2-4H8 Name=9 NA rs1274957 0.51 0.51 0.473 0.491214 0.6551 0.5724 0.6239 0.115 0.6534 0.66 0.58 0.61 0.14 0.6099 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.607506 NA NA 0.650465 0.197458 NA 0.5 NA 6.7512016 985 17 7154534 7154534 G A exonic CTDNEP1 NA synonymous SNV CTDNEP1:NM_001143775:exon1:c.C82T:p.L28L,CTDNEP1:NM_015343:exon2:c.C82T:p.L28L exonic ENSG00000175826 NA synonymous SNV ENSG00000175826:ENST00000570380:exon1:c.C82T:p.L28L,ENSG00000175826:ENST00000574205:exon1:c.C82T:p.L28L,ENSG00000175826:ENST00000574322:exon1:c.C82T:p.L28L,ENSG00000175826:ENST00000318988:exon2:c.C82T:p.L28L,ENSG00000175826:ENST00000571409:exon2:c.C82T:p.L28L,ENSG00000175826:ENST00000573600:exon2:c.C82T:p.L28L,ENSG00000175826:ENST00000575783:exon2:c.C82T:p.L28L Score=677;Name=lod=754 NA 17p13.1 Score=844;Name=V$EGR1_01 Name=Pol2 NA NA rs414206 0.68 0.68 0.662 0.701078 0.6342 0.6498 0.5922 0.8918 0.6421 0.62 0.66 0.61 0.87 0.6607 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 1.648523 1.648523 NA 0.620638 0.836665 ID=COSM437281;OCCURENCE=1(breast) 0.71 NA 6.7511286 985 17 79668552 79668552 C T exonic HGS NA synonymous SNV HGS:NM_004712:exon22:c.C2238T:p.G746G exonic ENSG00000185359 NA nonsynonymous SNV ENSG00000185359:ENST00000570652:exon2:c.C20T:p.A7V NA NA 17q25.3 NA Name=CTCF,Pol2,ZNF263,ZBTB7A_(SC-34508) NA NA rs34897798 0.1 0.1 0.112 0.0896565 0.0696 0.2222 0.0432 0.0318 0.0849 0.07 0.22 0.04 0.04 0.1229 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.280358 NA NA 0.056473 0.028784 ID=COSM1130114;OCCURENCE=1(prostate) 0.123 NA 6.751027 985 1 229772693 229772693 T G exonic URB2 NA nonsynonymous SNV URB2:NM_014777:exon4:c.T2333G:p.V778G exonic ENSG00000135763 NA nonsynonymous SNV ENSG00000135763:ENST00000258243:exon4:c.T2333G:p.V778G NA NA 1q42.13 NA NA NA NA rs3811473 0.59 0.59 0.595 0.571885 0.5189 0.7649 0.5432 0.4796 0.5726 0.51 0.81 0.56 0.5 0.5515 0.81 . . 0.0 B 0.0 B 0.877 N 1.000 P -0.345 N 1.62 T -1.014 T 0.000 T 0.006 -0.365 2.28 -2.13 -0.911 -0.568 3.400 -0.365044 NA NA 0.512791 0.504539 NA 0.514 NA 6.7501424 985 1 248845097 248845097 C T exonic OR14I1 NA nonsynonymous SNV OR14I1:NM_001004734:exon1:c.G509A:p.S170N exonic ENSG00000189181 NA nonsynonymous SNV ENSG00000189181:ENST00000342623:exon1:c.G509A:p.S170N NA NA 1q44 NA NA NA NA rs2000390 0.78 0.78 0.761 0.751797 0.8777 0.872 0.8703 0.4251 0.8558 0.88 0.87 0.86 0.45 0.8262 0.88 1 T 0.0 B 0.001 B 0.114 N 1.000 P -2.945 N 9.04 T -0.905 T 0.000 T 0.006 -1.168 0.09 -3.92 -1.261 -0.493 7.168 -1.168342 NA 1 0.879535 0.49773 NA 0.71 NA 6.7498984 985 11 125766173 125766173 A C exonic PUS3 NA nonsynonymous SNV PUS3:NM_031307:exon2:c.T7G:p.Y3D exonic ENSG00000110060 NA nonsynonymous SNV ENSG00000110060:ENST00000530811:exon1:c.T7G:p.Y3D,ENSG00000110060:ENST00000227474:exon2:c.T7G:p.Y3D,ENSG00000110060:ENST00000534158:exon2:c.T7G:p.Y3D,ENSG00000110060:ENST00000529801:exon3:c.T7G:p.Y3D Score=363;Name=lod=40 NA 11q24.2 NA NA NA NA rs622756 0.82 0.82 0.801 0.802716 0.8569 0.8542 0.889 0.6339 0.8609 0.86 0.88 0.9 0.65 0.858 0.9 0.52 T 0.0 B 0.0 B 0.026 N 0.000 P 0 N 1.58 T -0.985 T 0.000 T 0.118 -1.062 0.181 5.02 0.862 0.899 4.119 -1.062392 NA 0.69 0.869853 0.677647 NA 0.797 NA 6.7485804 985 7 100839401 100839401 G A intronic MOGAT3 NA NA NA exonic ENSG00000106384 NA nonsynonymous SNV ENSG00000106384:ENST00000440203:exon6:c.C938T:p.P313L NA NA 7q22.1 NA NA NA NA rs3735338 0.11 0.11 0.105 0.119409 0.1272 0.1329 0.1167 0.0688 0.1677 0.12 0.13 0.13 0.06 0.1672 0.13 0.05 D . . . . . . 1.000 P . . 1.72 T -1.065 T 0.001 T 0.112 2.272 13.55 1.83 0.734 0.406 5.694 2.271896 2.271896 0 0.123891 0.07548 NA 0.109 NA 6.7483757 985 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 985 13 29898768 29898768 A C exonic MTUS2 NA nonsynonymous SNV MTUS2:NM_001033602:exon5:c.A2855C:p.Q952P exonic ENSG00000132938 NA nonsynonymous SNV ENSG00000132938:ENST00000431530:exon5:c.A2855C:p.Q952P NA NA 13q12.3 NA NA NA NA rs928661 0.79 0.79 0.762 0.770567 0.8549 0.9097 0.8631 0.4697 0.8814 0.86 0.9 0.86 0.48 0.8564 0.9 . . 0.019 B 0.018 B 0.001 N 0.914 P 1.525 L 2.43 T -1.052 T 0.000 T 0.153 1.617 11.36 3.53 0.799 1.890 8.252 1.617157 1.617157 0.01 0.875365 0.543443 NA 0.674 NA 6.7466684 985 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 985 3 9960070 9960070 C T exonic IL17RC NA nonsynonymous SNV IL17RC:NM_001203263:exon4:c.C332T:p.S111L,IL17RC:NM_001203264:exon4:c.C332T:p.S111L,IL17RC:NM_001203265:exon4:c.C332T:p.S111L,IL17RC:NM_032732:exon4:c.C332T:p.S111L,IL17RC:NM_153460:exon4:c.C332T:p.S111L,IL17RC:NM_153461:exon4:c.C545T:p.S182L exonic ENSG00000163702 NA nonsynonymous SNV ENSG00000163702:ENST00000295981:exon4:c.C545T:p.S182L,ENSG00000163702:ENST00000383812:exon4:c.C332T:p.S111L,ENSG00000163702:ENST00000403601:exon4:c.C332T:p.S111L,ENSG00000163702:ENST00000413608:exon4:c.C332T:p.S111L,ENSG00000163702:ENST00000424206:exon4:c.C332T:p.S111L,ENSG00000163702:ENST00000455057:exon4:c.C332T:p.S111L NA NA 3p25.3 Score=940;Name=V$AP1_C NA NA NA rs708567 0.39 0.39 0.388 0.386981 0.5437 0.0933 0.4683 0.4955 0.3241 0.54 0.07 0.47 0.49 0.5119 0.54 0.2 T 0.094 B 0.031 B 0.899 N 1.000 P 0.205 N 2.27 T -0.938 T 0.000 T 0.095 -0.115 3.436 -0.28 0.232 -0.564 4.023 -0.115044 NA 0.13 0.53186 0.488193 NA 0.283 NA 6.7458734 985 7 72987354 72987354 C T intronic TBL2 NA NA NA intronic ENSG00000106638 NA NA NA NA Name=Triglycerides,Hypertriglyceridemia 7q11.23 NA Name=p300_(F-4),ELF1_(SC-631),GATA-1,GABP,Pol2-4H8,E2F6_(H-50),E2F6,USF-1,Pol2,GATA-2,eGFP-GATA2,CCNT2,TBP,Pol2(b),ZBTB7A_(SC-34508),YY1,E2F4,eGFP-JunD,NRSF,IRF1 Name=2 NA rs2286276 0.24 0.24 0.246 0.210663 0.2545 0.0933 0.1499 0.3389 0.1564 0.27 0.11 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 0.452677 NA NA NA NA NA 0.341 NA 6.7455 986 1 157509025 157509025 C T exonic FCRL5 NA nonsynonymous SNV FCRL5:NM_001195388:exon7:c.G1253A:p.G418D,FCRL5:NM_031281:exon7:c.G1253A:p.G418D exonic ENSG00000143297 NA nonsynonymous SNV ENSG00000143297:ENST00000368191:exon6:c.G998A:p.G333D,ENSG00000143297:ENST00000356953:exon7:c.G1253A:p.G418D,ENSG00000143297:ENST00000361835:exon7:c.G1253A:p.G418D,ENSG00000143297:ENST00000368189:exon7:c.G1253A:p.G418D,ENSG00000143297:ENST00000368190:exon7:c.G1253A:p.G418D NA NA 1q23.1 NA NA NA NA rs2012199 0.83 0.83 0.825 0.841054 0.8648 0.878 0.8357 0.7345 0.9264 0.87 0.87 0.83 0.73 0.8667 0.87 1 T 0.01 B 0.018 B 0.280 N 1.000 P -1.075 N 3.47 T -0.931 T 0.002 T 0.076 -1.448 0.019 -3.79 -1.176 -0.841 7.407 -1.448222 NA 1 0.856977 0.760781 NA 0.79 NA 6.7448564 986 5 96231000 96231000 G T exonic ERAP2 NA nonsynonymous SNV ERAP2:NM_001130140:exon7:c.G1176T:p.K392N,ERAP2:NM_022350:exon7:c.G1176T:p.K392N exonic ENSG00000164308 NA nonsynonymous SNV ENSG00000164308:ENST00000379904:exon6:c.G1041T:p.K347N,ENSG00000164308:ENST00000437043:exon7:c.G1176T:p.K392N,ENSG00000164308:ENST00000510373:exon7:c.G1176T:p.K392N,ENSG00000164308:ENST00000513084:exon7:c.G1176T:p.K392N Score=599;Name=lod=361 NA 5q15 NA NA NA NA rs2549782 0.55 0.55 0.536 0.552716 0.5199 0.5278 0.5793 0.6014 0.5276 0.52 0.58 0.59 0.55 0.5476 0.59 1 T 0.0 B 0.001 B 0.000 N 0.000 P -2.355 N 4.9 T -1.043 T 0.000 T 0.167 -0.789 0.707 0.68 -0.325 0.405 3.452 -0.788574 NA 1 0.521047 0.579891 NA 0.659 NA 6.7447864 986 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 986 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 986 X 13681115 13681115 C T exonic TCEANC NA nonsynonymous SNV TCEANC:NM_152634:exon4:c.C578T:p.S193L exonic ENSG00000176896 NA nonsynonymous SNV ENSG00000176896:ENST00000380600:exon2:c.C488T:p.S163L,ENSG00000176896:ENST00000544987:exon3:c.C488T:p.S163L,ENSG00000176896:ENST00000314720:exon4:c.C578T:p.S193L,ENSG00000176896:ENST00000545566:exon5:c.C488T:p.S163L NA NA Xp22.2 NA NA NA NA rs2361159 0.53 0.53 0.53816 NA NA NA NA NA NA 0.51 0.64 0.58 0.42 0.5524 0.64 0.42 T 0.804 P 0.131 B 0.980 N 1.000 P 0.625 N 1.05 T -0.917 T 0.000 T 0.152 -0.515 1.646 1.06 -0.415 0.826 4.134 -0.515339 NA 0.23 0.536793 0.399636 NA 0.37 NA 6.7441404 986 3 11596302 11596302 T C exonic ATG7 NA synonymous SNV ATG7:NM_001144912:exon17:c.T1857C:p.D619D,ATG7:NM_001136031:exon18:c.T2016C:p.D672D,ATG7:NM_006395:exon19:c.T2097C:p.D699D exonic ENSG00000197548 NA synonymous SNV ENSG00000197548:ENST00000446450:exon17:c.T1857C:p.D619D,ENSG00000197548:ENST00000354956:exon18:c.T2016C:p.D672D,ENSG00000197548:ENST00000354449:exon19:c.T2097C:p.D699D Score=512;Name=lod=161 NA 3p25.3 Score=802;Name=V$BACH1_01 NA NA NA rs8154 0.25 0.25 0.248 0.254593 0.3201 0.1389 0.2277 0.3419 0.2076 0.31 0.13 0.22 0.31 0.2797 0.32 NA NA 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 0.322791 0.321607 ID=COSM329155;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(prostate) 0.254 NA 6.7440756 986 14 77844265 77844265 G A exonic SAMD15 NA nonsynonymous SNV SAMD15:NM_001010860:exon1:c.G504A:p.M168I exonic ENSG00000100583 NA nonsynonymous SNV ENSG00000100583:ENST00000216471:exon1:c.G504A:p.M168I NA NA 14q24.3 NA NA NA NA rs45527334 0.13 0.13 0.097 0.141573 0.2038 0.0159 0.2651 0.059 0.2311 0.19 0.01 0.29 0.06 0.1905 0.29 0.14 T 0.0 B 0.0 B . . 1.000 P 0.69 N 2.2 T -0.931 T 0.000 T 0.021 1.689 11.61 -1.46 0.034 -0.322 4.697 1.688514 1.688514 0.48 0.195465 0.091693 NA 0.174 NA 6.7435684 986 5 140168070 140168070 A G exonic PCDHA1 NA nonsynonymous SNV PCDHA1:NM_018900:exon1:c.A2195G:p.Y732C,PCDHA1:NM_031410:exon1:c.A2195G:p.Y732C exonic ENSG00000204970 NA nonsynonymous SNV ENSG00000204970:ENST00000378133:exon1:c.A2195G:p.Y732C,ENSG00000204970:ENST00000504120:exon1:c.A2195G:p.Y732C NA NA 5q31.3 NA NA NA NA rs2240696 0.53 0.53 0.526 0.525359 0.5368 0.5317 0.5879 0.4796 0.5245 0.53 0.54 0.53 0.51 0.5253 0.54 0.83 T 0.0 B 0.001 B 0.111 N 1.000 P -2.685 N 3.03 T -0.983 T 0.000 T 0.07 -2.739 0 2.24 0.322 0.396 3.794 -2.739289 NA 1 0.527791 0.496142 ID=COSM1433691,COSM1433690;OCCURENCE=1(large_intestine) 0.486 NA 6.7434424 986 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=JunD,c-Jun 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 986 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 986 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 986 21 44485350 44485350 G A exonic CBS NA synonymous SNV CBS:NM_000071:exon8:c.C699T:p.Y233Y,CBS:NM_001178008:exon8:c.C699T:p.Y233Y,CBS:NM_001178009:exon8:c.C699T:p.Y233Y exonic ENSG00000160200 NA synonymous SNV ENSG00000160200:ENST00000544202:exon6:c.C435T:p.Y145Y,ENSG00000160200:ENST00000352178:exon8:c.C699T:p.Y233Y,ENSG00000160200:ENST00000359624:exon8:c.C699T:p.Y233Y,ENSG00000160200:ENST00000398158:exon8:c.C699T:p.Y233Y,ENSG00000160200:ENST00000398165:exon8:c.C699T:p.Y233Y,ENSG00000160200:ENST00000398168:exon8:c.C699T:p.Y233Y Score=551;Name=lod=232 NA 21q22.3 NA NA NA NA rs234706 0.22 0.22 0.213 0.196486 0.3062 0.0327 0.1844 0.2201 0.229 0.32 0.03 0.22 0.27 0.2763 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.687635 NA NA 0.344186 0.231729 ID=COSM1414309,COSM1414310;OCCURENCE=1(large_intestine) 0.217 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000078110.1|RCV000124149.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.7399806 986 20 20144772 20144772 G A exonic C20orf26 NA nonsynonymous SNV C20orf26:NM_001167816:exon10:c.G1105A:p.V369I,C20orf26:NM_015585:exon11:c.G1105A:p.V369I exonic ENSG00000089101 NA nonsynonymous SNV ENSG00000089101:ENST00000340348:exon10:c.G967A:p.V323I,ENSG00000089101:ENST00000451767:exon10:c.G1105A:p.V369I,ENSG00000089101:ENST00000245957:exon11:c.G1105A:p.V369I,ENSG00000089101:ENST00000377306:exon11:c.G1105A:p.V369I NA NA 20p11.23 NA NA NA NA rs6081901 0.46 0.46 0.456 0.458866 0.5497 0.2778 0.4265 0.559 0.4397 0.54 0.26 0.44 0.58 0.4852 0.58 0.49 T 0.001 B 0.001 B 0.003 N 1.000 P 0.345 N 3.22 T -0.928 T 0.000 T 0.133 0.616 7.318 -2.89 -0.700 -0.461 0.481 0.616292 NA 0.58 0.55907 0.549932 NA 0.464 NA 6.7393634 986 14 52535648 52535648 G T exonic NID2 NA nonsynonymous SNV NID2:NM_007361:exon1:c.C65A:p.P22Q exonic ENSG00000087303 NA nonsynonymous SNV ENSG00000087303:ENST00000216286:exon1:c.C65A:p.P22Q NA NA 14q22.1 NA Name=CTCF,Pol2 Name=126 NA rs3920038 0.82 0.82 0.79 0.804313 0.8698 0.999 0.8732 0.4629 0.9489 0.87 1 0.85 0.49 0.8594 1 0.33 T 0.002 B 0.001 B 0.348 N 1.000 P -0.69 N 2.07 T -1.036 T 0.000 T 0.086 0.851 8.442 1.49 0.518 0.356 3.069 0.851112 NA 0.86 0.865434 0.506809 NA 0.594 NA 6.7386994 986 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 986 9 132402908 132402908 C G exonic ASB6 NA synonymous SNV ASB6:NM_001202403:exon2:c.G207C:p.V69V,ASB6:NM_017873:exon2:c.G207C:p.V69V,ASB6:NM_177999:exon2:c.G207C:p.V69V exonic ENSG00000148331 NA synonymous SNV ENSG00000148331:ENST00000277458:exon2:c.G207C:p.V69V,ENSG00000148331:ENST00000277459:exon2:c.G207C:p.V69V Score=487;Name=lod=127 NA 9q34.11 Score=879;Name=V$CEBPA_01 Name=YY1_(C-20) Name=4 NA rs2241247 0.94 0.94 0.916 0.934904 0.9781 0.9147 0.938 0.9017 0.954 0.97 0.92 0.94 0.89 0.9655 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 3.136759 3.136759 NA 0.985581 0.908307 NA 0.935 NA 6.7374856 986 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 987 19 4847713 4847713 A G exonic PLIN3 NA nonsynonymous SNV PLIN3:NM_001164189:exon6:c.T824C:p.V275A,PLIN3:NM_001164194:exon6:c.T788C:p.V263A,PLIN3:NM_005817:exon6:c.T824C:p.V275A exonic ENSG00000105355 NA nonsynonymous SNV ENSG00000105355:ENST00000221957:exon6:c.T824C:p.V275A,ENSG00000105355:ENST00000585479:exon6:c.T824C:p.V275A,ENSG00000105355:ENST00000592528:exon6:c.T788C:p.V263A NA NA 19p13.3 NA NA NA NA rs9973235 0.9 0.9 0.886 0.895168 0.8807 0.8948 0.9251 0.9092 0.8701 0.88 0.9 0.93 0.9 0.8666 0.93 0.45 T 0.0 B 0.0 B 0.271 U 1.000 P 0.235 N 2.34 T -1.058 T 0.000 T 0.023 0.291 5.573 2.18 -0.002 3.327 5.595 0.290571 NA 0.44 0.85264 0.913518 NA 0.884 NA 6.7333934 987 14 21109726 21109726 G A exonic OR6S1 NA nonsynonymous SNV OR6S1:NM_001001968:exon1:c.C125T:p.T42I exonic ENSG00000181803 NA nonsynonymous SNV ENSG00000181803:ENST00000320704:exon1:c.C125T:p.T42I NA NA 14q11.2 NA NA NA NA rs11622794 0.47 0.47 0.471 0.460264 0.5338 0.2897 0.5461 0.4902 0.4591 0.53 0.32 0.59 0.47 0.5104 0.59 0.16 T 0.021 B 0.016 B 0.044 N 1.000 P 0.315 N 7.47 T -1.117 T 0.000 T 0.087 -0.189 3.081 1.53 0.403 1.178 8.403 -0.18902 NA 0.51 0.556047 0.512256 NA 0.377 NA 6.7330864 987 20 3193978 3193978 G A exonic ITPA NA synonymous SNV ITPA:NM_033453:exon3:c.G138A:p.Q46Q,ITPA:NM_181493:exon3:c.G87A:p.Q29Q exonic ENSG00000125877 NA synonymous SNV ENSG00000125877:ENST00000380113:exon3:c.G138A:p.Q46Q,ENSG00000125877:ENST00000455664:exon3:c.G87A:p.Q29Q Score=474;Name=lod=113 NA 20p13 Score=729;Name=V$LUN1_01 NA NA NA rs8362 0.42 0.42 0.436 0.470447 0.3022 0.6131 0.3055 0.4705 0.6135 0.31 0.6 0.31 0.49 0.352 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.095654 NA NA 0.279535 0.457785 NA 0.399 NA 6.7329316 987 1 247150740 247150740 T C exonic ZNF695 NA synonymous SNV ZNF695:NM_020394:exon4:c.A1077G:p.K359K exonic ENSG00000197472 NA synonymous SNV ENSG00000197472:ENST00000339986:exon4:c.A1077G:p.K359K Score=352;Name=lod=36 NA 1q44 NA Name=ZNF274,KAP1,SETDB1 Name=8 NA rs3749427 0.63 0.63 0.588 0.588858 0.6362 0.9722 0.719 0.1634 0.6278 0.63 0.98 0.7 0.17 0.6538 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 1.319298 1.319298 NA 0.643776 0.247319 NA 0.486 NA 6.7328906 987 1 183852914 183852914 G C intronic RGL1 NA NA NA intronic ENSG00000143344 NA NA NA NA Name=Attention deficit hyperactivity disorder and conduct disorder 1q25.3 Score=875;Name=V$TAL1BETAITF2_01 Name=PU.1 Name=27 NA rs10797919 0.45 0.45 0.439 0.453275 0.4165 0.5099 0.4308 0.475 0.4192 0.42 0.51 0.43 0.41 0.4249 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.476756 NA NA 0.425814 0.472084 NA 0.486 NA 6.732786 987 19 12958697 12958697 T C exonic MAST1 NA synonymous SNV MAST1:NM_014975:exon7:c.T600C:p.F200F exonic ENSG00000105613 NA synonymous SNV ENSG00000105613:ENST00000251472:exon7:c.T600C:p.F200F,ENSG00000105613:ENST00000591495:exon8:c.T588C:p.F196F Score=612;Name=lod=411 NA 19p13.2 NA Name=AP-2alpha,ZBTB7A_(SC-34508),AP-2gamma,CCNT2,SMC3_(ab9263),ZNF263,c-Myc,YY1_(C-20),NRSF,E2F4,RFX5_(N-494),NFKB,CTCF NA NA rs2290688 0.48 0.48 0.49 0.502396 0.2893 0.621 0.3473 0.6664 0.4877 0.28 0.67 0.32 0.66 0.3776 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060374 NA NA 0.267155 0.616659 ID=COSM1480600,COSM438635;OCCURENCE=1(breast) 0.464 NA 6.7326116 987 4 8582856 8582856 T G exonic GPR78 NA synonymous SNV GPR78:NM_080819:exon1:c.T147G:p.S49S exonic ENSG00000155269 NA synonymous SNV ENSG00000155269:ENST00000382487:exon1:c.T147G:p.S49S,ENSG00000155269:ENST00000514302:exon2:c.T147G:p.S49S Score=589;Name=lod=330 NA 4p16.1 NA Name=NRSF NA NA rs17844777 0.16 0.16 0.175 0.151158 0.325 0.0238 0.2147 0.0325 0.2188 0.3 0.01 0.25 0.05 0.2645 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.342464 NA NA 0.344848 0.080799 NA 0.072 NA 6.7323186 987 9 129102840 129102840 G A exonic MVB12B NA synonymous SNV MVB12B:NM_001011703:exon2:c.G135A:p.T45T,MVB12B:NM_033446:exon2:c.G135A:p.T45T exonic ENSG00000196814 NA synonymous SNV ENSG00000196814:ENST00000361171:exon2:c.G135A:p.T45T,ENSG00000196814:ENST00000402437:exon2:c.G90A:p.T30T,ENSG00000196814:ENST00000436593:exon2:c.G90A:p.T30T,ENSG00000196814:ENST00000545391:exon2:c.G135A:p.T45T Score=550;Name=lod=230 NA 9q33.3 Score=787;Name=V$CDPCR3_01 NA NA NA rs1888156 0.31 0.31 0.322 0.314896 0.2903 0.2897 0.3026 0.3858 0.2791 0.29 0.28 0.33 0.38 0.3235 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.244561 1.244561 NA 0.321163 0.355424 NA 0.239 NA 6.7317036 987 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 987 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 987 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 987 3 38350519 38350519 G A exonic SLC22A14 NA nonsynonymous SNV SLC22A14:NM_004803:exon4:c.G850A:p.V284M exonic ENSG00000144671 NA nonsynonymous SNV ENSG00000144671:ENST00000273173:exon4:c.G850A:p.V284M,ENSG00000144671:ENST00000448498:exon5:c.G850A:p.V284M NA NA 3p22.2 NA NA NA NA rs818818 0.82 0.82 0.83 0.825479 0.8708 0.7639 0.8055 0.8389 0.8384 0.86 0.77 0.82 0.83 0.8492 0.88 1 T 0.004 B 0.012 B 0.010 N 1.000 P -0.71 N -0.85 T -0.895 T 0.000 T 0.111 -1.401 0.023 -10.0 -3.605 -2.163 2.159 -1.400601 NA 1 0.88314 0.832728 NA 0.826 NA 6.7301934 987 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 987 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 987 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 987 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 987 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 987 3 113655207 113655207 C T exonic GRAMD1C NA synonymous SNV GRAMD1C:NM_001172105:exon9:c.C936T:p.N312N,GRAMD1C:NM_017577:exon14:c.C1551T:p.N517N exonic ENSG00000178075 NA synonymous SNV ENSG00000178075:ENST00000440446:exon9:c.C936T:p.N312N,ENSG00000178075:ENST00000462838:exon9:c.C936T:p.N312N,ENSG00000178075:ENST00000472026:exon9:c.C1050T:p.N350N,ENSG00000178075:ENST00000358160:exon14:c.C1551T:p.N517N,ENSG00000178075:ENST00000452134:exon14:c.C738T:p.N246N Score=325;Name=lod=28 NA 3q13.31 Score=774;Name=V$PAX5_02 NA NA NA rs3765114 0.26 0.26 0.235 0.230032 0.328 0.2679 0.3156 0.0371 0.2904 0.34 0.28 0.33 0.05 0.289 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.0732 NA NA 0.321744 0.082615 NA 0.297 NA 6.7279226 987 19 47823871 47823871 G T exonic C5AR1 NA unknown UNKNOWN exonic ENSG00000197405 NA nonsynonymous SNV ENSG00000197405:ENST00000355085:exon2:c.G837T:p.K279N NA NA 19q13.32 NA NA NA NA rs11880097 0.97 0.97 0.974 0.969449 0.9742 1 0.9741 0.9357 0.9755 0.98 1 0.97 0.94 0.9817 1 0.48 T 0.06 B 0.029 B 0.362 U 1.000 P 1.135 L -0.63 T -0.923 T 0.000 T 0.142 0.926 8.773 -9.75 -2.333 -4.019 18.997 0.926279 NA 0.49 0.983372 0.936677 NA 0.957 NA 6.7273947 987 4 177113779 177113779 T C exonic SPATA4 NA synonymous SNV SPATA4:NM_144644:exon4:c.A687G:p.P229P exonic ENSG00000150628 NA synonymous SNV ENSG00000150628:ENST00000515234:exon3:c.A168G:p.P56P,ENSG00000150628:ENST00000280191:exon4:c.A687G:p.P229P Score=405;Name=lod=59 NA 4q34.2 Score=892;Name=V$AREB6_01 NA NA NA rs12502935 0.37 0.37 0.355 0.361821 0.3121 0.6052 0.2392 0.2678 0.3763 0.32 0.61 0.28 0.25 0.3222 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.854501 1.854501 NA 0.305536 0.28847 NA 0.232 NA 6.7268306 987 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 987 13 114780764 114780764 A G exonic RASA3 NA synonymous SNV RASA3:NM_007368:exon14:c.T1326C:p.T442T exonic ENSG00000185989 NA synonymous SNV ENSG00000185989:ENST00000334062:exon14:c.T1326C:p.T442T,ENSG00000185989:ENST00000389544:exon14:c.T1230C:p.T410T Score=381;Name=lod=47 NA 13q34 NA Name=CTCF,SMC3_(ab9263),Rad21 Name=2 NA rs2274717 0.71 0.71 0.714 0.725839 0.6461 0.6558 0.6585 0.9183 0.6677 0.63 0.67 0.66 0.9 0.6624 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 -0.521805 NA NA 0.63314 0.85951 NA 0.681 NA 6.7250266 988 9 34372783 34372783 G C exonic KIAA1161 NA unknown UNKNOWN exonic ENSG00000164976 NA nonsynonymous SNV ENSG00000164976:ENST00000379142:exon1:c.C48G:p.D16E,ENSG00000164976:ENST00000297625:exon2:c.C57G:p.D19E Score=385;Name=lod=49 NA 9p13.3 NA Name=CTCF,FOXA1_(C-20) Name=13 NA rs4879781 0.94 0.94 0.923 0.936302 0.9881 0.9663 0.9726 0.8222 0.9806 0.99 0.96 0.98 0.81 0.9681 0.99 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.805 N 1.75 T -0.946 T 0.000 T 0.067 -2.584 0 1.46 -0.352 -0.060 5.490 -2.583526 NA 0.95 0.985564 0.868228 NA 0.87 NA 6.7249027 988 6 121577370 121577370 T C exonic C6orf170 NA nonsynonymous SNV C6orf170:NM_152730:exon16:c.A1795G:p.I599V exonic ENSG00000146350 NA nonsynonymous SNV ENSG00000146350:ENST00000275159:exon16:c.A1795G:p.I599V,ENSG00000146350:ENST00000398212:exon16:c.A1795G:p.I599V Score=493;Name=lod=135 NA 6q22.31 NA NA NA NA rs7745023 0.29 0.29 0.289 0.260783 0.5855 0.1111 0.2954 0.0424 0.3517 0.58 0.09 0.33 0.06 0.4449 0.58 1 T 0.0 B 0.002 B 0.470 N 0.997 P 0.35 N 2.37 T -0.917 T 0.005 T 0.02 -0.315 2.501 -0.469 0.057 0.019 5.692 -0.315202 NA 0.75 0.578198 0.129496 ID=COSM1132045;OCCURENCE=1(prostate) 0.348 NA 6.7247354 988 4 169433333 169433333 C T exonic PALLD NA synonymous SNV PALLD:NM_001166108:exon2:c.C678T:p.D226D,PALLD:NM_016081:exon2:c.C678T:p.D226D exonic ENSG00000129116 NA synonymous SNV ENSG00000129116:ENST00000333488:exon1:c.C309T:p.D103D,ENSG00000129116:ENST00000508898:exon1:c.C615T:p.D205D,ENSG00000129116:ENST00000261509:exon2:c.C678T:p.D226D,ENSG00000129116:ENST00000505667:exon2:c.C678T:p.D226D NA NA 4q32.3 NA Name=CTCF Name=3 NA rs7673220 0.26 0.26 0.223 0.239617 0.33 0.1935 0.1844 0.2368 0.2372 0.34 0.18 0.21 0.25 0.2851 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189698 NA NA 0.32686 0.253518 NA 0.268 NA 6.7247066 988 6 33052986 33052986 T C exonic HLA-DPB1 NA synonymous SNV HLA-DPB1:NM_002121:exon3:c.T624C:p.D208D exonic ENSG00000223865 NA synonymous SNV ENSG00000223865:ENST00000418931:exon3:c.T624C:p.D208D,ENSG00000223865:ENST00000428835:exon3:c.T555C:p.D185D NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs1071597 0.44 0.44 0.413 0.463658 0.3151 0.621 0.3314 0.5976 0.3671 0.31 0.57 0.3 0.59 0.3305 0.59 . . . . . . . . 1.000 P . . . . -1.011 T 0.027 T . 0.696 7.716 -0.298 -0.117 -0.366 2.594 0.696092 NA NA 0.296529 0.557909 NA 0.384 NA 6.7245376 988 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$MYOGNF1_01 NA NA NA rs2280463 0.39 0.39 0.424 0.437899 0.2932 0.256 0.3228 0.8139 0.3476 0.28 0.24 0.36 0.78 0.3399 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.253226 1.253226 NA 0.309956 0.7475 NA 0.536 NA 6.7236106 988 1 169951997 169951997 C T exonic KIFAP3 NA synonymous SNV KIFAP3:NM_001204516:exon13:c.G1386A:p.G462G,KIFAP3:NM_001204517:exon14:c.G1398A:p.G466G,KIFAP3:NM_014970:exon14:c.G1518A:p.G506G,KIFAP3:NM_001204514:exon15:c.G1284A:p.G428G exonic ENSG00000075945 NA synonymous SNV ENSG00000075945:ENST00000540905:exon7:c.G624A:p.G208G,ENSG00000075945:ENST00000367767:exon13:c.G1386A:p.G462G,ENSG00000075945:ENST00000361580:exon14:c.G1518A:p.G506G,ENSG00000075945:ENST00000367765:exon14:c.G1398A:p.G466G,ENSG00000075945:ENST00000538366:exon15:c.G1284A:p.G428G Score=612;Name=lod=411 NA 1q24.2 Score=822;Name=V$NFKB_Q6 NA NA NA rs33943686 0.32 0.32 0.303 0.273962 0.326 0.503 0.2867 0.087 0.228 0.33 0.5 0.3 0.11 0.2964 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.789013 NA NA 0.320963 0.10985 NA 0.29 NA 6.7233036 988 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 988 7 36338749 36338749 T C exonic EEPD1 NA synonymous SNV EEPD1:NM_030636:exon8:c.T1644C:p.D548D exonic ENSG00000122547 NA synonymous SNV ENSG00000122547:ENST00000242108:exon8:c.T1644C:p.D548D,ENSG00000122547:ENST00000534978:exon9:c.T1644C:p.D548D NA NA 7p14.2 Score=846;Name=V$ELK1_01 NA NA NA rs196613 0.95 0.95 0.932 0.942692 0.9841 0.9742 0.9712 0.8419 0.9836 0.99 0.98 0.98 0.85 0.9695 0.99 . . . . . . . . 0.038 P . . . . -1.032 T 0.000 T . -0.725 0.891 -7.47 -1.739 -0.568 1.038 -0.725499 NA NA 0.990116 0.853155 NA 0.942 NA 6.7229506 988 12 48737245 48737245 A C exonic ZNF641 NA synonymous SNV ZNF641:NM_001172682:exon5:c.T759G:p.G253G,ZNF641:NM_001172681:exon6:c.T786G:p.G262G,ZNF641:NM_152320:exon7:c.T828G:p.G276G exonic ENSG00000167528 NA synonymous SNV ENSG00000167528:ENST00000448928:exon5:c.T759G:p.G253G,ENSG00000167528:ENST00000544117:exon6:c.T828G:p.G276G,ENSG00000167528:ENST00000547026:exon6:c.T786G:p.G262G,ENSG00000167528:ENST00000301042:exon7:c.T828G:p.G276G Score=550;Name=lod=229 NA 12q13.11 Score=779;Name=V$AHR_01 NA NA NA rs2732484 0.15 0.15 0.137 0.16873 0.325 0.0109 0.1859 0.0189 0.3609 0.32 0.01 0.21 0.03 0.2813 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.844069 NA NA 0.33814 0.062415 NA 0.261 NA 6.7222266 988 11 70279766 70279766 C T exonic CTTN NA synonymous SNV CTTN:NM_001184740:exon16:c.C1347T:p.Y449Y,CTTN:NM_138565:exon16:c.C1347T:p.Y449Y,CTTN:NM_005231:exon17:c.C1458T:p.Y486Y exonic ENSG00000085733 NA stopgain ENSG00000085733:ENST00000533931:exon4:c.C382T:p.R128X Score=371;Name=lod=43 NA 11q13.3 NA NA NA NA rs643301 0.15 0.15 0.163 0.183107 0.1988 0.0119 0.134 0.2413 0.2996 0.19 0.01 0.15 0.25 0.2032 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.216148 NA NA 0.209711 0.221136 NA 0.101 NA 6.7216223 988 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 988 4 41673604 41673604 T C exonic LIMCH1 NA nonsynonymous SNV LIMCH1:NM_001112720:exon11:c.T1778C:p.M593T,LIMCH1:NM_001112719:exon12:c.T1814C:p.M605T,LIMCH1:NM_001112717:exon17:c.T2276C:p.M759T,LIMCH1:NM_001112718:exon17:c.T2276C:p.M759T,LIMCH1:NM_014988:exon17:c.T2276C:p.M759T exonic ENSG00000064042 NA nonsynonymous SNV ENSG00000064042:ENST00000381753:exon11:c.T1778C:p.M593T,ENSG00000064042:ENST00000509277:exon11:c.T1778C:p.M593T,ENSG00000064042:ENST00000514096:exon11:c.T1799C:p.M600T,ENSG00000064042:ENST00000396595:exon12:c.T1814C:p.M605T,ENSG00000064042:ENST00000511496:exon14:c.T1799C:p.M600T,ENSG00000064042:ENST00000313860:exon17:c.T2276C:p.M759T,ENSG00000064042:ENST00000508501:exon17:c.T2276C:p.M759T,ENSG00000064042:ENST00000512820:exon17:c.T2315C:p.M772T,ENSG00000064042:ENST00000512946:exon17:c.T2276C:p.M759T,ENSG00000064042:ENST00000513024:exon17:c.T1838C:p.M613T,ENSG00000064042:ENST00000503057:exon22:c.T3431C:p.M1144T NA NA 4p13 NA NA NA NA rs11734372 0.47 0.47 0.481 0.485224 0.5656 0.1409 0.4813 0.6884 0.4857 0.57 0.17 0.5 0.68 0.5046 0.68 1 T 0.001 B 0.002 B 0.145 N 1.000 P -0.69 N 1.18 T -0.997 T 0.000 T 0.278 -2.609 0 2.76 0.436 0.479 9.643 -2.608962 NA 0.68 0.542558 0.657512 NA 0.464 NA 6.7205754 988 5 81354389 81354389 T C exonic ATG10 NA nonsynonymous SNV ATG10:NM_031482:exon3:c.T184C:p.S62P,ATG10:NM_001131028:exon4:c.T184C:p.S62P exonic ENSG00000152348 NA nonsynonymous SNV ENSG00000152348:ENST00000513634:exon2:c.T184C:p.S62P,ENSG00000152348:ENST00000282185:exon3:c.T184C:p.S62P,ENSG00000152348:ENST00000355178:exon3:c.T184C:p.S62P,ENSG00000152348:ENST00000504770:exon3:c.T184C:p.S62P,ENSG00000152348:ENST00000513443:exon3:c.T184C:p.S62P,ENSG00000152348:ENST00000458350:exon4:c.T184C:p.S62P NA NA 5q14.1 NA NA NA NA rs3734114 0.17 0.17 0.155 0.190096 0.2018 0.2173 0.1556 0.0582 0.3528 0.21 0.19 0.17 0.08 0.2092 0.21 0.23 T 0.089 B 0.035 B 0.038 N 1.000 P 1.01 L 1.89 T -1.050 T 0.000 T 0.079 1.171 9.763 0.709 0.379 0.783 1.210 1.170517 NA 0.3 0.20186 0.081707 NA 0.094 NA 6.7204734 988 19 53793042 53793042 G A exonic BIRC8 NA nonsynonymous SNV BIRC8:NM_033341:exon1:c.C586T:p.H196Y exonic ENSG00000163098 NA nonsynonymous SNV ENSG00000163098:ENST00000426466:exon1:c.C586T:p.H196Y NA NA 19q13.42 NA NA NA NA rs8109165 0.55 0.55 0.538 0.5623 0.5 0.506 0.5648 0.708 0.4857 0.51 0.49 0.53 0.69 0.56 0.69 0.01 D 0.027 B 0.01 B . . 1.000 P 0.805 L -1.18 T -0.949 T 0.000 T 0.043 -0.281 2.657 -1.0 -0.638 -0.485 5.224 -0.280589 NA 0.07 0.553023 0.680209 NA 0.514 NA 6.7203104 988 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 988 19 4013322 4013322 T C exonic PIAS4 NA synonymous SNV PIAS4:NM_015897:exon2:c.T429C:p.D143D exonic ENSG00000105229 NA synonymous SNV ENSG00000105229:ENST00000262971:exon2:c.T429C:p.D143D Score=513;Name=lod=162 NA 19p13.3 Score=717;Name=V$NRSF_01 NA NA NA rs2289865 0.25 0.25 0.28 0.28734 0.333 0.0377 0.2277 0.4493 0.3211 0.33 0.03 0.24 0.4 0.2979 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21806 NA NA 0.317854 0.417348 ID=COSM439484;OCCURENCE=1(breast) 0.413 NA 6.7179126 988 10 101639877 101639877 A C exonic DNMBP NA nonsynonymous SNV DNMBP:NM_015221:exon16:c.T4239G:p.C1413W exonic ENSG00000107554 NA nonsynonymous SNV ENSG00000107554:ENST00000540316:exon8:c.T1047G:p.C349W,ENSG00000107554:ENST00000543621:exon13:c.T1977G:p.C659W,ENSG00000107554:ENST00000324109:exon16:c.T4239G:p.C1413W,ENSG00000107554:ENST00000342239:exon16:c.T4311G:p.C1437W NA NA 10q24.2 NA NA NA NA rs11190305 0.29 0.29 0.254 0.277157 0.3917 0.244 0.3329 0.1437 0.3344 0.39 0.26 0.37 0.11 0.3442 0.39 0.19 T 0.6 P 0.35 B 0.017 N 0.997 P 0.345 N 2.81 T -1.004 T 0.000 T 0.188 1.185 9.817 0.604 -0.132 -0.874 1.034 1.18472 NA 0.18 0.380349 0.187699 NA 0.333 NA 6.7170844 988 11 75282882 75282882 G A exonic SERPINH1 NA synonymous SNV SERPINH1:NM_001235:exon5:c.G1011A:p.L337L,SERPINH1:NM_001207014:exon6:c.G1011A:p.L337L exonic ENSG00000149257 NA synonymous SNV ENSG00000149257:ENST00000525876:exon3:c.G360A:p.L120L,ENSG00000149257:ENST00000358171:exon5:c.G1011A:p.L337L,ENSG00000149257:ENST00000524558:exon5:c.G1011A:p.L337L,ENSG00000149257:ENST00000533603:exon6:c.G1011A:p.L337L Score=488;Name=lod=128 NA 11q13.5 Score=802;Name=V$PAX2_01 NA NA NA rs585821 0.32 0.32 0.317 0.376797 0.2972 0.2073 0.3775 0.4758 0.499 0.29 0.19 0.39 0.47 0.3487 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.24314 1.24314 NA 0.303867 0.440909 NA 0.449 NA 6.7168996 988 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 988 11 102713620 102713620 T C exonic MMP3 NA nonsynonymous SNV MMP3:NM_002422:exon2:c.A133G:p.K45E exonic ENSG00000149968 NA nonsynonymous SNV ENSG00000149968:ENST00000299855:exon2:c.A133G:p.K45E,ENSG00000149968:ENST00000524478:exon2:c.A104G:p.Q35R NA NA 11q22.2 NA NA NA NA rs679620 0.63 0.63 0.593 0.652157 0.5278 0.6657 0.6787 0.671 0.7219 0.54 0.67 0.64 0.71 0.5891 0.71 1 T 0.0 B 0.001 B 0.064 N 1.000 P 0.035 N 1.34 T -0.961 T 0.000 T 0.028 -0.478 1.799 -0.221 -0.250 -1.578 6.987 -0.477598 NA 1 0.500233 0.638901 ID=COSM428296;OCCURENCE=1(breast) 0.558 NA 6.7162004 988 11 494942 494942 G C exonic RNH1 NA synonymous SNV RNH1:NM_203384:exon9:c.C1239G:p.A413A,RNH1:NM_203385:exon9:c.C1239G:p.A413A,RNH1:NM_203388:exon9:c.C1239G:p.A413A,RNH1:NM_203389:exon9:c.C1239G:p.A413A,RNH1:NM_002939:exon10:c.C1239G:p.A413A,RNH1:NM_203383:exon10:c.C1239G:p.A413A,RNH1:NM_203386:exon10:c.C1239G:p.A413A,RNH1:NM_203387:exon10:c.C1239G:p.A413A exonic ENSG00000023191 NA synonymous SNV ENSG00000023191:ENST00000529768:exon4:c.C621G:p.A207A,ENSG00000023191:ENST00000534797:exon8:c.C1239G:p.A413A,ENSG00000023191:ENST00000356187:exon9:c.C1239G:p.A413A,ENSG00000023191:ENST00000397604:exon9:c.C1239G:p.A413A,ENSG00000023191:ENST00000397614:exon9:c.C1239G:p.A413A,ENSG00000023191:ENST00000438658:exon9:c.C1239G:p.A413A,ENSG00000023191:ENST00000354420:exon10:c.C1239G:p.A413A,ENSG00000023191:ENST00000397615:exon10:c.C1239G:p.A413A,ENSG00000023191:ENST00000533410:exon10:c.C1239G:p.A413A NA NA 11p15.5 NA Name=CCNT2 Name=11 NA rs7983 0.33 0.33 0.351 0.332867 0.3101 0.1865 0.366 0.5272 0.2209 0.31 0.2 0.38 0.49 0.327 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167862 NA NA 0.314419 0.495232 NA 0.304 NA 6.7151476 989 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 989 12 124325977 124325977 T G exonic DNAH10 NA nonsynonymous SNV DNAH10:NM_207437:exon29:c.T4891G:p.L1631V exonic ENSG00000197653 NA nonsynonymous SNV ENSG00000197653:ENST00000497783:exon3:c.T340G:p.L114V,ENSG00000197653:ENST00000409039:exon29:c.T4891G:p.L1631V NA NA 12q24.31 NA NA NA NA rs4930729 0.81 0.81 0.836 0.786142 0.8867 0.5327 0.8429 0.9713 0.6534 0.9 0.55 0.85 0.95 0.8344 0.96 1 T 0.0 B 0.0 B 0.023 N 1.000 P -1.97 N 0.55 T -0.864 T 0.000 T 0.051 -1.741 0.011 -5.3 -1.395 -0.302 15.931 -1.741338 NA 1 0.898848 0.955246 NA 0.884 NA 6.7133854 989 7 132070054 132070054 T C exonic PLXNA4 NA nonsynonymous SNV PLXNA4:NM_001105543:exon4:c.A1372G:p.M458V exonic ENSG00000221866 NA nonsynonymous SNV ENSG00000221866:ENST00000423507:exon4:c.A1372G:p.M458V NA NA 7q32.3 NA NA NA NA rs741664 0.3 0.3 0.291 0.254992 0.5865 0.129 0.3112 0.0333 0.3037 0.58 0.14 0.33 0.04 0.4533 0.58 1 T 0.0 B 0.0 B . . 1.000 P . . 4.22 T -0.933 T 0.000 T 0.035 -1.413 0.022 -4.6 -0.485 -0.474 0.490 -1.413205 NA 0.68 0.580314 0.111256 NA 0.406 NA 6.7132194 989 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 989 19 52869278 52869278 G C exonic ZNF610 NA nonsynonymous SNV ZNF610:NM_001161427:exon5:c.G518C:p.R173P,ZNF610:NM_001161425:exon6:c.G647C:p.R216P,ZNF610:NM_001161426:exon6:c.G647C:p.R216P,ZNF610:NM_173530:exon6:c.G647C:p.R216P exonic ENSG00000167554 NA nonsynonymous SNV ENSG00000167554:ENST00000601151:exon5:c.G518C:p.R173P,ENSG00000167554:ENST00000321287:exon6:c.G647C:p.R216P,ENSG00000167554:ENST00000327920:exon6:c.G647C:p.R216P,ENSG00000167554:ENST00000403906:exon6:c.G647C:p.R216P NA NA 19q13.41 NA NA NA NA rs321937 0.79 0.79 0.792 0.811102 0.9006 0.6419 0.7954 0.82 0.8926 0.9 0.61 0.83 0.81 0.8439 0.9 0.22 T 0.0 B 0.0 B . . 1.000 P -0.345 N 4.29 T -1.090 T 0.000 T 0.1 0.006 4.044 -1.62 -1.309 -1.124 7.400 0.005798 NA 0.14 0.875814 0.821834 NA 0.848 NA 6.7130194 989 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$LMO2COM_01 NA NA NA rs2820999 0.48 0.48 0.487 0.5 0.2863 0.6409 0.4049 0.7511 0.3027 0.27 0.61 0.43 0.69 0.3713 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021102 NA NA 0.296071 0.674458 NA 0.71 NA 6.7129956 989 12 124229429 124229429 T C exonic ATP6V0A2 NA synonymous SNV ATP6V0A2:NM_012463:exon13:c.T1515C:p.N505N exonic ENSG00000185344 NA synonymous SNV ENSG00000185344:ENST00000330342:exon13:c.T1515C:p.N505N NA NA 12q24.31 Score=943;Name=V$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 989 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 989 22 45723842 45723842 G A exonic FAM118A NA synonymous SNV FAM118A:NM_017911:exon4:c.G420A:p.R140R,FAM118A:NM_001104595:exon5:c.G420A:p.R140R exonic ENSG00000100376 NA synonymous SNV ENSG00000100376:ENST00000405673:exon4:c.G420A:p.R140R,ENSG00000100376:ENST00000441876:exon4:c.G420A:p.R140R,ENSG00000100376:ENST00000216214:exon5:c.G420A:p.R140R Score=627;Name=lod=473 NA 22q13.31 Score=747;Name=V$NRSF_01 NA NA NA rs17851057 0.5 0.5 0.511 0.536342 0.2932 0.5268 0.4006 0.851 0.4673 0.29 0.52 0.42 0.83 0.3777 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.120893 NA NA 0.284186 0.75261 NA 0.464 NA 6.7115806 989 16 81183325 81183325 T A exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN Score=660;Name=lod=639 NA 16q23.2 Score=796;Name=V$OLF1_01 NA NA NA rs59980974 0.14 0.14 0.121 0.161542 0.0825 0.2262 0.2133 0.093 0.2321 0.08 0.23 0.17 0.11 0.1335 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11.011926 11.011926 NA 0.072864 0.07399 NA 0.109 NA 6.711136 989 21 43985955 43985955 G A exonic SLC37A1 NA nonsynonymous SNV SLC37A1:NM_018964:exon16:c.G1240A:p.V414I exonic ENSG00000160190 NA nonsynonymous SNV ENSG00000160190:ENST00000352133:exon15:c.G1240A:p.V414I,ENSG00000160190:ENST00000398341:exon16:c.G1240A:p.V414I NA NA 21q22.3 NA NA NA NA rs228104 0.81 0.81 0.797 0.819888 0.8748 0.5069 0.9265 0.9939 0.7751 0.88 0.48 0.92 0.99 0.8521 0.99 0.47 T 0.001 B 0.001 B 0.031 N 1.000 P 0.41 N 0.26 T -0.953 T 0.000 T 0.065 -0.226 2.909 -3.5 -1.063 0.321 15.418 -0.225827 NA 1 0.895814 0.976169 NA 0.87 NA 6.7106194 989 7 6449496 6449496 T C exonic DAGLB NA nonsynonymous SNV DAGLB:NM_001142936:exon13:c.A1604G:p.Q535R,DAGLB:NM_139179:exon15:c.A1991G:p.Q664R exonic ENSG00000164535 NA nonsynonymous SNV ENSG00000164535:ENST00000425398:exon13:c.A1604G:p.Q535R,ENSG00000164535:ENST00000297056:exon15:c.A1991G:p.Q664R,ENSG00000164535:ENST00000436575:exon15:c.A1868G:p.Q623R NA NA 7p22.1 NA NA NA NA rs2303361 0.18 0.18 0.153 0.162939 0.2107 0.2669 0.1816 0.0545 0.1401 0.22 0.22 0.2 0.06 0.1924 0.22 0.66 T 0.007 B 0.003 B 0.717 N 1.000 P 1.61 L 0.94 T -1.014 T 0.000 T 0.062 0.291 5.573 -1.66 -0.549 0.453 6.544 0.290535 NA 0.49 0.219651 0.093963 NA 0.116 NA 6.7105824 989 17 28612448 28612448 G C exonic BLMH NA synonymous SNV BLMH:NM_000386:exon6:c.C603G:p.T201T exonic ENSG00000108578 NA synonymous SNV ENSG00000108578:ENST00000581037:exon3:c.C249G:p.T83T,ENSG00000108578:ENST00000577623:exon4:c.C75G:p.T25T,ENSG00000108578:ENST00000394819:exon5:c.C342G:p.T114T,ENSG00000108578:ENST00000261714:exon6:c.C603G:p.T201T,ENSG00000108578:ENST00000584603:exon6:c.C603G:p.T201T Score=599;Name=lod=364 NA 17q11.2 Score=899;Name=V$CEBPB_02 NA NA NA rs7342921 0.29 0.29 0.262 0.26877 0.329 0.1746 0.3746 0.2557 0.2464 0.34 0.18 0.35 0.29 0.3046 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.218262 NA NA 0.322791 0.257149 NA 0.203 NA 6.7102756 989 14 105410827 105410827 C T exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.G10961A:p.G3654E exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.G10961A:p.G3654E NA NA 14q32.33 NA NA NA NA rs28380382 0.52 0.52 0.547 0.552516 0.5348 0.4127 0.513 0.6316 0.636 0.53 0.39 0.55 0.65 0.5448 0.67 1 T 0.395 B 0.158 B . . 1.000 P 2.79 M 4.26 T -0.882 T 0.000 T 0.09 2.147 13.14 0.827 -0.015 0.000 1.727 2.147422 2.147422 0.15 0.543468 0.672676 NA 0.601 NA 6.7102654 989 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,Pol2-4H8,Pol2,HA-E2F1,TBP 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 989 19 52869022 52869022 G T exonic ZNF610 NA nonsynonymous SNV ZNF610:NM_001161427:exon5:c.G262T:p.A88S,ZNF610:NM_001161425:exon6:c.G391T:p.A131S,ZNF610:NM_001161426:exon6:c.G391T:p.A131S,ZNF610:NM_173530:exon6:c.G391T:p.A131S exonic ENSG00000167554 NA nonsynonymous SNV ENSG00000167554:ENST00000601151:exon5:c.G262T:p.A88S,ENSG00000167554:ENST00000321287:exon6:c.G391T:p.A131S,ENSG00000167554:ENST00000327920:exon6:c.G391T:p.A131S,ENSG00000167554:ENST00000403906:exon6:c.G391T:p.A131S NA NA 19q13.41 NA NA NA NA rs2241586 0.8 0.8 0.802 0.824481 0.9006 0.6538 0.8012 0.857 0.8947 0.9 0.62 0.83 0.83 0.8476 0.9 1 T 0.0 B 0.0 B . . 1.000 P -1.3 N 3.55 T -0.961 T 0.000 T 0.08 -4.565 0.001 -2.21 -3.448 -0.736 5.329 -4.565087 NA 0.68 0.875814 0.846346 NA 0.855 NA 6.7093194 989 16 84209815 84209815 C G exonic DNAAF1 NA nonsynonymous SNV DNAAF1:NM_178452:exon11:c.C1975G:p.L659V exonic ENSG00000154099 NA nonsynonymous SNV ENSG00000154099:ENST00000569735:exon1:c.C277G:p.L93V,ENSG00000154099:ENST00000378553:exon11:c.C1975G:p.L659V NA NA 16q24.1 NA NA NA NA rs2288021 0.14 0.14 0.11 0.13139 0.2078 0.0972 0.2406 0.0068 0.1789 0.21 0.09 0.26 0.01 0.1979 0.26 0.16 T 0.013 B 0.037 B 0.627 N 1.000 P 0 N 1.86 T -0.952 T 0.000 T 0.2 1.096 9.473 0.294 0.214 -0.449 2.872 1.096043 NA 0.02 0.218372 0.043636 NA 0.072 NA 6.7092614 989 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 989 22 50488547 50488547 G A intergenic IL17REL,MLC1 dist=37492;dist=9273 NA NA exonic ENSG00000138892 NA nonsynonymous SNV ENSG00000138892:ENST00000266182:exon2:c.C181T:p.R61W,ENSG00000138892:ENST00000440475:exon2:c.C181T:p.R61W,ENSG00000138892:ENST00000433387:exon3:c.C289T:p.R97W NA NA 22q13.33 NA NA NA NA rs117334902 0.02 0.02 0.017 0.0161741 0.0427 0.003 0.0115 0.0008 0.0266 0.04 NA 0.01 0.002 0.0383 0.044 0.02 D 0.431 B 0.109 B 0.004 N 1.000 N 0.695 N 1.93 T -1.040 T 0.011 T 0.309 1.788 11.94 1.56 0.453 -0.066 4.768 1.787767 1.787767 0.09 0.043989 0.007544 ID=COSM1327180,COSM1327179;OCCURENCE=1(ovary) 0.007 NA 6.7083444 989 16 15839034 15839034 G A exonic MYH11 NA synonymous SNV MYH11:NM_002474:exon20:c.C2472T:p.A824A,MYH11:NM_022844:exon20:c.C2472T:p.A824A,MYH11:NM_001040113:exon21:c.C2493T:p.A831A,MYH11:NM_001040114:exon21:c.C2493T:p.A831A exonic ENSG00000133392 NA synonymous SNV ENSG00000133392:ENST00000300036:exon20:c.C2472T:p.A824A,ENSG00000133392:ENST00000338282:exon20:c.C2472T:p.A824A,ENSG00000133392:ENST00000576790:exon20:c.C2472T:p.A824A,ENSG00000133392:ENST00000396324:exon21:c.C2493T:p.A831A,ENSG00000133392:ENST00000452625:exon21:c.C2493T:p.A831A NA NA 16p13.11 NA Name=CTCF,CTCF_(SC-5916) Name=8 NA rs1050113 0.3 0.3 0.3 0.253594 0.339 0.3542 0.2695 0.1112 0.2434 0.35 0.39 0.28 0.15 0.2975 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.126179 NA NA 0.321977 0.148157 NA 0.304 NA 6.7081896 989 9 100388119 100388119 G T exonic TSTD2 NA nonsynonymous SNV TSTD2:NM_139246:exon3:c.C326A:p.A109D exonic ENSG00000136925 NA nonsynonymous SNV ENSG00000136925:ENST00000341170:exon3:c.C326A:p.A109D NA NA 9q22.33 NA NA NA NA rs10817858 0.18 0.18 0.175 0.217452 0.2177 0.253 0.1167 0.0991 0.4121 0.22 0.23 0.11 0.11 0.2168 0.23 0.62 T 0.02 B 0.011 B 0.594 N 1.000 P 1.61 L 1.46 T -0.981 T 0.000 T 0.053 1.886 12.26 1.8 0.258 0.262 1.649 1.885639 1.885639 0.6 0.190698 0.112574 ID=COSM150646;OCCURENCE=1(stomach) 0.174 NA 6.7081354 989 15 28386626 28386626 C T exonic HERC2 NA synonymous SNV HERC2:NM_004667:exon78:c.G11967A:p.Q3989Q exonic ENSG00000128731 NA synonymous SNV ENSG00000128731:ENST00000261609:exon78:c.G11967A:p.Q3989Q Score=582;Name=lod=309 NA 15q13.1 NA NA NA Score=76;Name=775872_0_-_76 rs11636232 0.15 0.15 0.131 0.0856629 0.3221 NA 0.0908 0.0151 0.0225 0.35 NA 0.1 0.02 0.2542 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150172 NA NA 0.382442 0.077848 NA 0.159 NA 6.7079246 989 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 989 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 989 14 105408955 105408955 A G exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.T12833C:p.V4278A exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.T12833C:p.V4278A NA NA 14q32.33 NA NA NA NA rs2819422 0.55 0.55 0.535 0.580671 0.5338 0.4127 0.5187 0.7375 0.6339 0.53 0.39 0.56 0.75 0.5518 0.75 0.79 T 0.0 B 0.006 B . . 1.000 P 0.085 N 5.22 T -0.949 T 0.000 T 0.108 -2.657 0 -0.353 -2.385 1.298 . -2.656781 NA 0.33 0.542569 0.733366 NA 0.594 NA 6.7051644 990 1 6211183 6211183 G A exonic CHD5 NA synonymous SNV CHD5:NM_015557:exon7:c.C903T:p.F301F exonic ENSG00000116254 NA synonymous SNV ENSG00000116254:ENST00000262450:exon7:c.C903T:p.F301F,ENSG00000116254:ENST00000496404:exon7:c.C903T:p.F301F Score=567;Name=lod=268 NA 1p36.31 Score=759;Name=V$MYOGNF1_01 NA NA NA rs9434711 0.48 0.48 0.512 0.50619 0.3002 0.6528 0.2089 0.6906 0.5286 0.3 0.67 0.23 0.71 0.3806 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.332926 1.332926 NA 0.281744 0.613028 NA 0.514 NA 6.7041226 990 8 27925204 27925204 T C exonic NUGGC NA nonsynonymous SNV NUGGC:NM_001010906:exon6:c.A538G:p.S180G exonic ENSG00000189233 NA nonsynonymous SNV ENSG00000189233:ENST00000341513:exon6:c.A538G:p.S180G,ENSG00000189233:ENST00000413272:exon6:c.A538G:p.S180G NA NA 8p21.1 NA NA NA NA rs4732620 0.57 0.57 0.561 0.584465 0.5159 0.6101 0.6095 0.6089 0.5777 0.51 0.62 0.56 0.63 0.5706 0.63 0.43 T 0.0 B 0.0 B 0.316 N 1.000 P -0.855 N -4.2 D -0.920 T 0.000 T 0.022 -0.955 0.333 0.743 -0.083 -0.491 1.212 -0.954775 NA 0.86 0.542881 0.596359 NA 0.558 NA 6.7039524 990 1 17662662 17662662 T C exonic PADI4 NA synonymous SNV PADI4:NM_012387:exon4:c.T349C:p.L117L exonic ENSG00000159339 NA synonymous SNV ENSG00000159339:ENST00000375448:exon4:c.T349C:p.L117L Score=403;Name=lod=58 NA 1p36.13 NA Name=CTCF_(SC-5916),Znf143_(16618-1-AP),SMC3_(ab9263),Rad21,YY1_(C-20),CTCF Name=118 NA rs1748033 0.62 0.62 0.574 0.591853 0.661 0.6151 0.585 0.5401 0.5716 0.68 0.64 0.57 0.55 0.6373 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.325336 NA NA 0.664419 0.581253 NA 0.493 NA 6.7039476 990 22 44586522 44586522 C T exonic PARVG NA synonymous SNV PARVG:NM_001137605:exon7:c.C480T:p.V160V,PARVG:NM_022141:exon7:c.C480T:p.V160V exonic ENSG00000138964 NA synonymous SNV ENSG00000138964:ENST00000356909:exon7:c.C480T:p.V160V,ENSG00000138964:ENST00000415224:exon7:c.C480T:p.V160V,ENSG00000138964:ENST00000422871:exon7:c.C480T:p.V160V,ENSG00000138964:ENST00000444313:exon7:c.C480T:p.V160V Score=355;Name=lod=37 NA 22q13.31 Score=806;Name=V$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 990 5 41049397 41049397 C T exonic MROH2B NA nonsynonymous SNV MROH2B:NM_173489:exon14:c.G1486A:p.V496I exonic ENSG00000171495 NA nonsynonymous SNV ENSG00000171495:ENST00000506092:exon4:c.G151A:p.V51I,ENSG00000171495:ENST00000399564:exon14:c.G1486A:p.V496I Score=449;Name=lod=89 NA 5p13.1 NA NA NA NA rs325864 0.81 0.81 0.801 0.80611 0.8877 0.6776 0.8271 0.8011 0.8466 0.89 0.65 0.86 0.83 0.8485 0.89 0.49 T 0.0 B 0.001 B 0.378 N 1.000 P -0.805 N 3.15 T -1.087 T 0.000 T 0.038 0.715 7.807 -1.98 -0.463 -1.862 5.380 0.714805 NA 1 0.893958 0.815614 NA 0.819 NA 6.7031754 990 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$GR_Q6 NA NA NA rs55901236 0.5 0.5 0.517 0.454073 0.5696 0.7153 0.4741 0.118 0.5061 0.57 0.71 0.51 0.15 0.5265 0.71 0.16 T 0.009 B 0.008 B 0.002 N 1.000 P 1.42 L 2.45 T -1.028 T 0.000 T 0.034 1.151 9.686 0.087 -0.085 -0.441 8.645 1.150525 NA 0.52 0.536542 0.208354 NA 0.478 NA 6.7006914 990 9 72472831 72472831 C T exonic C9orf135 NA synonymous SNV C9orf135:NM_001010940:exon4:c.C387T:p.T129T exonic ENSG00000204711 NA synonymous SNV ENSG00000204711:ENST00000377197:exon4:c.C387T:p.T129T,ENSG00000204711:ENST00000527647:exon4:c.C387T:p.T129T Score=355;Name=lod=37 NA 9q21.12 NA NA NA NA rs10780682 0.29 0.29 0.266 0.270567 0.331 0.4067 0.2925 0.0938 0.2914 0.35 0.37 0.31 0.09 0.3012 0.37 . . . . . . . . 0.000 P . . . . -0.933 T 0.000 T . -1.119 0.127 -0.010 -0.170 0.095 4.502 -1.118773 NA NA 0.334302 0.140717 NA 0.188 NA 6.7001646 990 19 55756980 55756980 A G exonic PPP6R1 NA synonymous SNV PPP6R1:NM_014931:exon3:c.T294C:p.A98A exonic ENSG00000105063 NA synonymous SNV ENSG00000105063:ENST00000587283:exon2:c.T294C:p.A98A,ENSG00000105063:ENST00000412770:exon3:c.T294C:p.A98A,ENSG00000105063:ENST00000592242:exon3:c.T294C:p.A98A NA NA 19q13.42 Score=858;Name=V$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 990 3 112642568 112642568 C G exonic CD200R1 NA nonsynonymous SNV CD200R1:NM_170780:exon7:c.G934C:p.E312Q,CD200R1:NM_138806:exon8:c.G1003C:p.E335Q exonic ENSG00000163606 NA nonsynonymous SNV ENSG00000163606:ENST00000471858:exon7:c.G934C:p.E312Q,ENSG00000163606:ENST00000308611:exon8:c.G1003C:p.E335Q NA NA 3q13.2 NA NA NA NA rs9865242 0.63 0.63 0.616 0.651158 0.5328 0.7024 0.6066 0.7209 0.6575 0.54 0.7 0.61 0.7 0.5704 0.7 1 T 0.0 B 0.0 B 0.486 N 1.000 P -0.805 N 2.57 T -0.967 T 0.000 T 0.014 -0.95 0.342 2.49 0.321 0.073 4.438 -0.949804 NA 0.92 0.532791 0.68384 NA 0.536 NA 6.6973424 990 9 132988709 132988709 T G exonic NCS1 NA synonymous SNV NCS1:NM_001128826:exon7:c.T462G:p.G154G,NCS1:NM_014286:exon7:c.T516G:p.G172G exonic ENSG00000107130 NA synonymous SNV ENSG00000107130:ENST00000372398:exon7:c.T516G:p.G172G,ENSG00000107130:ENST00000458469:exon7:c.T462G:p.G154G Score=541;Name=lod=211 NA 9q34.11 Score=889;Name=V$STAT5A_01 NA NA NA rs2277200 0.34 0.34 0.344 0.3127 0.3091 0.1379 0.4683 0.4667 0.1779 0.31 0.17 0.46 0.49 0.3265 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.582027 1.582027 NA 0.33407 0.42601 ID=COSM150729;OCCURENCE=1(stomach),1(large_intestine) 0.42 NA 6.6969966 990 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 990 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 990 6 41903782 41903782 A C exonic CCND3 NA nonsynonymous SNV CCND3:NM_001136125:exon4:c.T559G:p.S187A,CCND3:NM_001136126:exon4:c.T187G:p.S63A,CCND3:NM_001136017:exon5:c.T532G:p.S178A,CCND3:NM_001760:exon5:c.T775G:p.S259A exonic ENSG00000112576 NA nonsynonymous SNV ENSG00000112576:ENST00000414200:exon4:c.T559G:p.S187A,ENSG00000112576:ENST00000415497:exon4:c.T187G:p.S63A,ENSG00000112576:ENST00000510503:exon4:c.T395G:p.L132R,ENSG00000112576:ENST00000372987:exon5:c.T625G:p.S209A,ENSG00000112576:ENST00000372988:exon5:c.T532G:p.S178A,ENSG00000112576:ENST00000372991:exon5:c.T775G:p.S259A,ENSG00000112576:ENST00000511642:exon5:c.T532G:p.S178A NA NA 6p21.1 NA NA Name=7 NA rs1051130 0.58 0.58 0.597 0.592452 0.5467 0.504 0.5058 0.8487 0.4458 0.54 0.51 0.45 0.83 0.5443 0.83 0.93 T 0.0 B 0.001 B 0.168 N 1.000 P 0.55 N 1.93 T -0.932 T 0.010 T 0.006 -1.897 0.008 0.192 -0.245 0.467 8.226 -1.896571 NA 0.75 0.546512 0.776214 ID=COSM451455;OCCURENCE=1(breast),1(pancreas) 0.543 NA 6.6958214 990 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 990 6 31088145 31088145 T A exonic CDSN NA nonsynonymous SNV CDSN:NM_001264:exon1:c.A52T:p.M18L exonic ENSG00000204539 NA nonsynonymous SNV ENSG00000204539:ENST00000376288:exon1:c.A52T:p.M18L NA NA 6p21.33 NA NA NA NA rs3095318 0.12 0.12 0.123 0.101837 0.1819 0.0625 0.0778 0.1172 0.0562 0.19 0.05 0.08 0.11 0.2432 0.21 1 T 0.0 B 0.001 B 0.107 N 1.000 P 0.72 N 3.38 T -0.923 T 0.002 T 0.066 0.147 4.791 0.505 -0.059 -0.033 0.831 0.147084 NA 1 0.213006 0.140283 ID=COSM451191;OCCURENCE=1(breast) 0.167 NA 6.6952274 991 19 41811730 41811730 T C exonic HNRNPUL1 NA synonymous SNV HNRNPUL1:NM_007040:exon14:c.T2412C:p.T804T,HNRNPUL1:NM_144732:exon14:c.T2112C:p.T704T exonic ENSG00000105323 NA synonymous SNV ENSG00000105323:ENST00000378215:exon13:c.T2100C:p.T700T,ENSG00000105323:ENST00000263367:exon14:c.T2145C:p.T715T,ENSG00000105323:ENST00000352456:exon14:c.T2142C:p.T714T,ENSG00000105323:ENST00000392006:exon14:c.T2412C:p.T804T,ENSG00000105323:ENST00000593587:exon14:c.T2112C:p.T704T,ENSG00000105323:ENST00000595018:exon14:c.T2112C:p.T704T NA NA 19q13.2 NA NA NA NA rs12745 1 1 0.999 0.993011 0.993 1 0.9942 0.9992 0.9765 0.99 1 0.99 1 0.9905 1 0.36 T . . . . . . 0.000 P . . . . -1.086 T 0.000 T . 0.571 7.083 -9.33 -3.301 -3.175 5.811 0.570684 NA 0.87 0.988835 0.995005 NA 0.993 NA 6.6943316 991 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 991 6 160494409 160494409 A G exonic IGF2R NA nonsynonymous SNV IGF2R:NM_000876:exon34:c.A4855G:p.R1619G exonic ENSG00000197081 NA nonsynonymous SNV ENSG00000197081:ENST00000356956:exon34:c.A4855G:p.R1619G NA NA 6q25.3 NA NA NA NA rs629849 0.9 0.9 0.902 0.903155 0.8638 0.8423 0.9164 0.9939 0.8742 0.88 0.85 0.92 1 0.8963 1 1 T 0.0 B 0.0 B 0.033 N 1.000 P -1.315 N 4.55 T -0.945 T 0.001 T 0.113 -1.701 0.011 4.43 0.752 1.982 12.172 -1.700702 NA 1 0.880814 0.968906 NA 0.906 NA 6.6924194 991 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 991 6 151362942 151362942 T C intronic MTHFD1L NA NA NA exonic ENSG00000120254 NA nonsynonymous SNV ENSG00000120254:ENST00000453602:exon3:c.T245C:p.V82A NA NA 6q25.1 NA NA NA NA rs1983750 0.61 0.61 0.581 0.641773 0.7644 0.3522 0.6844 0.6626 0.7556 0.76 0.34 0.73 0.6 0.7114 0.76 0 D . . . . . . 1.000 P . . . . -1.032 T 0.053 T 0.057 -1.142 0.108 0.484 0.081 -1.479 3.492 -1.142022 NA 0.23 NA NA NA 0.58 NA 6.6908667 991 11 618998 618998 G A exonic CDHR5 NA nonsynonymous SNV CDHR5:NM_001171968:exon13:c.C1543T:p.P515S,CDHR5:NM_021924:exon13:c.C1561T:p.P521S exonic ENSG00000099834 NA nonsynonymous SNV ENSG00000099834:ENST00000397542:exon13:c.C1561T:p.P521S,ENSG00000099834:ENST00000358353:exon14:c.C1561T:p.P521S NA NA 11p15.5 Score=974;Name=V$ZIC3_01 NA NA NA rs2740375 0.51 0.51 0.486 0.4998 0.5586 0.7024 0.4669 0.2436 0.6002 0.56 0.71 0.47 0.25 0.5455 0.71 0.4 T 0.093 B 0.032 B 0.889 N 1.000 P 0.345 N 1.01 T -0.967 T 0.000 T 0.064 0.874 8.544 1.56 0.255 -0.038 4.844 0.873997 NA 0.42 0.538381 0.288243 NA 0.522 NA 6.6908524 991 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 991 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 991 14 105406238 105406238 A C exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.T15550G:p.Y5184D exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000557457:exon3:c.T544G:p.Y182D,ENSG00000185567:ENST00000333244:exon7:c.T15550G:p.Y5184D NA NA 14q32.33 NA NA NA NA rs2819419 0.55 0.55 0.582 0.590855 0.5467 0.4127 0.5216 0.7632 0.636 0.53 0.39 0.56 0.77 0.5535 0.77 0.61 T 0.0 B 0.0 B 0.416 N 1.000 P -1.355 N 5.4 T -1.097 T 0.000 T 0.066 -1.626 0.013 2.0 0.225 -0.242 3.689 -1.626373 NA 1 0.543796 0.752277 ID=COSM147858;OCCURENCE=1(stomach) 0.63 NA 6.6893374 991 14 21511497 21511497 C T exonic RNASE7 NA nonsynonymous SNV RNASE7:NM_032572:exon2:c.C346T:p.H116Y exonic ENSG00000165799 NA nonsynonymous SNV ENSG00000165799:ENST00000298690:exon2:c.C346T:p.H116Y,ENSG00000165799:ENST00000481538:exon2:c.C346T:p.H116Y Score=278;Name=lod=18 NA 14q11.2 NA NA NA NA rs1243469 0.86 0.86 0.841 0.821086 0.8936 0.8571 0.9222 0.7534 0.729 0.9 0.87 0.93 0.73 0.8663 0.93 1 T 0.0 B 0.0 B 0.658 U 1.000 P -2.815 N -0.51 T -0.958 T 0.000 T 0.289 -1.082 0.161 2.67 0.077 0.170 6.970 -1.081525 NA 1 0.884651 0.791194 ID=COSM1180657;OCCURENCE=1(upper_aerodigestive_tract) 0.891 NA 6.6887824 991 14 91739081 91739081 A G exonic CCDC88C NA nonsynonymous SNV CCDC88C:NM_001080414:exon30:c.T5975C:p.L1992P exonic ENSG00000015133 NA nonsynonymous SNV ENSG00000015133:ENST00000331194:exon6:c.T1547C:p.L516P,ENSG00000015133:ENST00000389857:exon30:c.T5975C:p.L1992P NA NA 14q32.11 NA NA NA NA rs941920 0.84 0.84 0.847 0.805911 0.8936 0.5784 0.7954 0.9917 0.7065 0.89 0.65 0.81 0.99 0.8524 0.99 0.39 T 0.0 B 0.0 B 0.608 N 1.000 P -0.895 N 2.44 T -1.016 T 0.000 T 0.071 -1.147 0.105 -2.61 -1.392 -0.560 2.872 -1.147213 NA 0.33 0.898625 0.975907 NA 0.812 NA 6.6887084 991 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 991 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 991 12 57589659 57589659 C T exonic LRP1 NA synonymous SNV LRP1:NM_002332:exon54:c.C8574T:p.C2858C exonic ENSG00000123384 NA synonymous SNV ENSG00000123384:ENST00000243077:exon54:c.C8574T:p.C2858C Score=393;Name=lod=53 NA 12q13.3 Score=785;Name=V$HEN1_01 NA NA NA rs1800154 0.41 0.41 0.388 0.391973 0.3141 0.4415 0.4496 0.5182 0.2096 0.32 0.41 0.41 0.53 0.3533 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.863049 NA NA 0.31186 0.490241 NA 0.326 NA 6.6874066 991 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 991 12 57567762 57567762 C T exonic LRP1 NA synonymous SNV LRP1:NM_002332:exon22:c.C3546T:p.C1182C exonic ENSG00000123384 NA synonymous SNV ENSG00000123384:ENST00000243077:exon22:c.C3546T:p.C1182C Score=486;Name=lod=126 NA 12q13.3 Score=745;Name=V$SEF1_C NA NA NA rs1800194 0.41 0.41 0.402 0.389577 0.3131 0.4335 0.4424 0.5197 0.2096 0.32 0.4 0.41 0.54 0.3546 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621666 NA NA 0.312791 0.473218 NA 0.326 NA 6.6861756 991 2 178682603 178682603 T C exonic PDE11A NA synonymous SNV PDE11A:NM_001077196:exon5:c.A294G:p.A98A,PDE11A:NM_001077358:exon7:c.A552G:p.A184A,PDE11A:NM_016953:exon8:c.A1626G:p.A542A,PDE11A:NM_001077197:exon9:c.A876G:p.A292A exonic ENSG00000128655 NA synonymous SNV ENSG00000128655:ENST00000389683:exon5:c.A294G:p.A98A,ENSG00000128655:ENST00000409504:exon7:c.A552G:p.A184A,ENSG00000128655:ENST00000449286:exon7:c.A552G:p.A184A,ENSG00000128655:ENST00000286063:exon8:c.A1626G:p.A542A,ENSG00000128655:ENST00000358450:exon9:c.A876G:p.A292A NA NA 2q31.2 NA NA NA NA rs6720891 0.41 0.41 0.425 0.418131 0.3241 0.3056 0.2622 0.7315 0.318 0.31 0.36 0.3 0.71 0.3339 0.71 . . . . . . . . 0.000 P . . . . -0.950 T 0.000 T . 0.255 5.38 -11.6 -1.740 -0.365 0.754 0.255377 NA NA 0.323023 0.618702 NA 0.529 NA 6.6856436 991 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 992 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 992 1 21167404 21167404 A G exonic EIF4G3 NA synonymous SNV EIF4G3:NM_003760:exon25:c.T3838C:p.L1280L,EIF4G3:NM_001198801:exon28:c.T3946C:p.L1316L,EIF4G3:NM_001198802:exon28:c.T3856C:p.L1286L exonic ENSG00000075151 NA synonymous SNV ENSG00000075151:ENST00000537738:exon16:c.T2308C:p.L770L,ENSG00000075151:ENST00000536266:exon19:c.T2650C:p.L884L,ENSG00000075151:ENST00000374935:exon23:c.T2998C:p.L1000L,ENSG00000075151:ENST00000264211:exon24:c.T3838C:p.L1280L,ENSG00000075151:ENST00000374937:exon25:c.T3856C:p.L1286L,ENSG00000075151:ENST00000400422:exon27:c.T3838C:p.L1280L,ENSG00000075151:ENST00000602326:exon28:c.T3856C:p.L1286L Score=668;Name=lod=694 NA 1p36.12 Score=910;Name=V$NCX_01 Name=USF-1,USF1_(SC-8983) Name=25 NA rs2230573 0.95 0.95 0.942 0.9377 1 1 0.9755 0.7769 1 1 1 0.98 0.79 0.9831 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021487 NA NA 0.999419 0.814798 NA 0.964 NA 6.6841476 992 X 69510335 69510335 C T exonic KIF4A NA synonymous SNV KIF4A:NM_012310:exon2:c.C27T:p.P9P exonic ENSG00000090889 NA synonymous SNV ENSG00000090889:ENST00000374388:exon2:c.C27T:p.P9P,ENSG00000090889:ENST00000374403:exon2:c.C27T:p.P9P Score=582;Name=lod=310 NA Xq13.1 Score=967;Name=V$NFKAPPAB_01 Name=Pol2 NA NA rs1199470 0.92 0.92 0.99444 NA NA NA NA NA NA 0.93 0.95 0.92 0.89 0.9927 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.229668 3.229668 NA 0.99048 0.997914 NA 0.739 NA 6.6834866 992 9 140051238 140051238 A G exonic GRIN1 NA synonymous SNV GRIN1:NM_000832:exon5:c.A789G:p.P263P,GRIN1:NM_007327:exon5:c.A789G:p.P263P,GRIN1:NM_021569:exon5:c.A789G:p.P263P,GRIN1:NM_001185090:exon6:c.A852G:p.P284P,GRIN1:NM_001185091:exon6:c.A852G:p.P284P exonic ENSG00000176884 NA synonymous SNV ENSG00000176884:ENST00000315048:exon5:c.A789G:p.P263P,ENSG00000176884:ENST00000350902:exon5:c.A789G:p.P263P,ENSG00000176884:ENST00000371550:exon5:c.A789G:p.P263P,ENSG00000176884:ENST00000371559:exon5:c.A789G:p.P263P,ENSG00000176884:ENST00000371561:exon5:c.A789G:p.P263P,ENSG00000176884:ENST00000371546:exon6:c.A852G:p.P284P,ENSG00000176884:ENST00000371553:exon6:c.A852G:p.P284P,ENSG00000176884:ENST00000371555:exon6:c.A852G:p.P284P,ENSG00000176884:ENST00000371560:exon6:c.A852G:p.P284P NA NA 9q34.3 NA Name=ZNF263 NA NA rs6293 0.16 0.16 0.153 0.140775 0.337 0.002 0.2032 0.0287 0.1892 0.34 0.0017 0.21 0.03 0.3307 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.445271 1.445271 NA 0.315679 0.065009 ID=COSM455639;OCCURENCE=1(breast),1(haematopoietic_and_lymphoid_tissue) 0.138 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117171.2;CLNDSDB=.;CLNDSDBID=. 6.6832876 992 7 99306685 99306685 C G exonic CYP3A7,CYP3A7-CYP3AP1 NA nonsynonymous SNV CYP3A7:NM_000765:exon11:c.G1226C:p.R409T,CYP3A7-CYP3AP1:NM_001256497:exon11:c.G1226C:p.R409T exonic ENSG00000160870 NA nonsynonymous SNV ENSG00000160870:ENST00000336374:exon11:c.G1226C:p.R409T Score=478;Name=lod=117 NA 7q22.1 NA NA NA NA rs2257401 0.73 0.73 0.698 0.669529 0.9274 0.7123 0.8069 0.3835 0.6493 0.93 0.72 0.79 0.39 0.8133 0.93 0.16 T 0.0 B 0.0 B 0.167 N 1.000 P -1.64 N -0.28 T -1.005 T 0.000 T 0.065 -0.047 3.772 1.54 0.114 2.950 4.692 -0.047459 NA 0.36 0.910349 0.478212 NA 0.717 NA 6.6822844 992 10 72324143 72324143 A G exonic PALD1 NA synonymous SNV PALD1:NM_014431:exon19:c.A2286G:p.Q762Q exonic ENSG00000107719 NA synonymous SNV ENSG00000107719:ENST00000263563:exon19:c.A2286G:p.Q762Q Score=378;Name=lod=46 NA 10q22.1 NA NA NA NA rs7093516 0.97 0.97 0.962 0.95607 0.998 1 0.9885 0.8411 1 1 1 0.99 0.87 0.9877 1 . . . . . . . . 0.000 P . . . . -1.014 T 0.000 T . 0.484 6.625 3.81 0.423 2.674 10.832 0.48367 NA NA 0.99907 0.881752 NA 0.978 NA 6.6818966 992 9 77563087 77563087 C T exonic C9orf40 NA synonymous SNV C9orf40:NM_017998:exon2:c.G462A:p.Q154Q exonic ENSG00000135045 NA synonymous SNV ENSG00000135045:ENST00000376854:exon2:c.G462A:p.Q154Q Score=539;Name=lod=206 NA 9q21.13 Score=798;Name=V$CDP_01 NA NA NA rs2769058 0.33 0.33 0.34 0.323283 0.3429 0.3988 0.3458 0.2398 0.3221 0.34 0.39 0.33 0.25 0.3197 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.855374 NA NA 0.322442 0.262823 ID=COSM150620;OCCURENCE=1(stomach) 0.246 NA 6.6816246 992 8 143427178 143427178 C G exonic TSNARE1 NA nonsynonymous SNV TSNARE1:NM_145003:exon3:c.G164C:p.R55P exonic ENSG00000171045 NA nonsynonymous SNV ENSG00000171045:ENST00000520166:exon2:c.G164C:p.R55P,ENSG00000171045:ENST00000307180:exon3:c.G164C:p.R55P,ENSG00000171045:ENST00000520462:exon3:c.G164C:p.R55P,ENSG00000171045:ENST00000524325:exon3:c.G164C:p.R55P,ENSG00000171045:ENST00000518720:exon4:c.G212C:p.R71P NA NA 8q24.3 NA NA NA NA rs33970858 0.34 0.34 0.334 0.36222 0.1978 0.3472 0.2896 0.652 0.2065 0.18 0.38 0.27 0.58 0.2442 0.58 1 T 0.0 B 0.0 B 0.611 N 1.000 P -0.895 N 2.68 T -0.941 T 0.000 T 0.434 -1.877 0.008 -0.305 -0.386 0.493 3.891 -1.876825 NA 1 0.21 0.572401 ID=COSM150557;OCCURENCE=1(stomach) 0.391 NA 6.6813334 992 17 62141455 62141455 A G exonic ERN1 NA synonymous SNV ERN1:NM_001433:exon10:c.T978C:p.I326I exonic ENSG00000178607 NA synonymous SNV ENSG00000178607:ENST00000433197:exon10:c.T978C:p.I326I Score=526;Name=lod=183 NA 17q23.3 Score=786;Name=V$COMP1_01 Name=TAF1 Name=94 NA rs187826 0.96 0.96 0.952 0.952077 0.998 1 0.9827 0.829 1 1 1 0.98 0.84 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 1.494902 1.494902 NA 0.999165 0.871519 NA 0.942 NA 6.6813016 992 X 47444985 47444985 T C exonic TIMP1 NA synonymous SNV TIMP1:NM_003254:exon5:c.T372C:p.F124F exonic ENSG00000102265 NA synonymous SNV ENSG00000102265:ENST00000377018:exon3:c.T354C:p.F118F,ENSG00000102265:ENST00000377017:exon4:c.T180C:p.F60F,ENSG00000102265:ENST00000218388:exon5:c.T372C:p.F124F NA NA Xp11.23 NA NA NA NA rs4898 0.45 0.45 0.45787 NA NA NA NA NA NA 0.48 0.44 0.43 0.44 0.5287 0.48 . . . . . . . . 0.967 P . . . . -0.912 T 0.000 T . -0.138 3.324 0.454 -0.352 -1.200 9.163 -0.138159 NA NA 0.457491 0.473012 NA 0.442 NA 6.6804756 992 6 51924774 51924774 A G exonic PKHD1 NA synonymous SNV PKHD1:NM_138694:exon15:c.T1185C:p.D395D,PKHD1:NM_170724:exon15:c.T1185C:p.D395D exonic ENSG00000170927 NA synonymous SNV ENSG00000170927:ENST00000340994:exon15:c.T1185C:p.D395D,ENSG00000170927:ENST00000371117:exon15:c.T1185C:p.D395D Score=582;Name=lod=309 NA 6p12.2 Score=893;Name=V$NF1_Q6 NA Name=7 NA rs1896976 0.97 0.97 0.97 0.958267 0.999 1 0.9914 0.8472 1 1 1 1 0.87 0.9883 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.14525 NA NA 0.99907 0.881298 NA 0.978 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082524.1;CLNDSDB=.;CLNDSDBID=. 6.6802966 992 1 86818572 86818572 T C exonic ODF2L NA synonymous SNV ODF2L:NM_001184766:exon15:c.A1617G:p.E539E,ODF2L:NM_001184765:exon16:c.A1704G:p.E568E,ODF2L:NM_001007022:exon17:c.A1863G:p.E621E,ODF2L:NM_020729:exon17:c.A1815G:p.E605E exonic ENSG00000122417 NA synonymous SNV ENSG00000122417:ENST00000462648:exon4:c.A384G:p.E128E,ENSG00000122417:ENST00000460698:exon12:c.A1404G:p.E468E,ENSG00000122417:ENST00000370566:exon15:c.A1617G:p.E539E,ENSG00000122417:ENST00000394731:exon15:c.A1383G:p.E461E,ENSG00000122417:ENST00000370567:exon16:c.A1776G:p.E592E,ENSG00000122417:ENST00000294678:exon17:c.A1815G:p.E605E,ENSG00000122417:ENST00000317336:exon17:c.A1863G:p.E621E,ENSG00000122417:ENST00000359242:exon17:c.A1863G:p.E621E Score=611;Name=lod=405 NA 1p22.3 NA NA NA NA rs272496 0.73 0.73 0.751 0.741214 0.6451 0.8284 0.6585 0.7557 0.7894 0.64 0.86 0.65 0.76 0.6915 0.86 . . . . . . . . 0.000 P . . . . -1.062 T 0.086 T . 0.834 8.365 2.2 0.539 0.452 9.159 0.833928 NA NA 0.649791 0.758299 NA 0.696 NA 6.6802756 992 11 71146577 71146577 G A exonic DHCR7 NA synonymous SNV DHCR7:NM_001163817:exon9:c.C1272T:p.G424G,DHCR7:NM_001360:exon9:c.C1272T:p.G424G exonic ENSG00000172893 NA synonymous SNV ENSG00000172893:ENST00000533800:exon3:c.C522T:p.G174G,ENSG00000172893:ENST00000355527:exon9:c.C1272T:p.G424G,ENSG00000172893:ENST00000407721:exon9:c.C1272T:p.G424G Score=661;Name=lod=646 NA 11q13.4 Score=899;Name=V$E47_01 NA NA NA rs909217 0.49 0.49 0.492 0.381989 0.6978 0.3839 0.513 0.2413 0.1524 0.7 0.43 0.5 0.23 0.5499 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.195478 NA NA 0.73875 0.336595 ID=COSM329305;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.13 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079641.1;CLNDSDB=.;CLNDSDBID=. 6.6802166 992 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 992 17 80377690 80377690 T G exonic HEXDC NA synonymous SNV HEXDC:NM_173620:exon2:c.T15G:p.T5T exonic ENSG00000169660 NA synonymous SNV ENSG00000169660:ENST00000327949:exon1:c.T15G:p.T5T,ENSG00000169660:ENST00000337014:exon2:c.T15G:p.T5T,ENSG00000169660:ENST00000577944:exon2:c.T15G:p.T5T,ENSG00000169660:ENST00000581482:exon2:c.T15G:p.T5T,ENSG00000169660:ENST00000582315:exon2:c.T15G:p.T5T NA NA 17q25.3 Score=887;Name=V$YY1_01 NA Name=30 NA rs1141463 0.49 0.49 0.517 0.48143 0.333 0.7123 0.3545 0.6589 0.2464 0.32 0.71 0.36 0.62 0.3549 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508323 NA NA 0.299315 0.618463 NA 0.319 NA 6.6794516 992 3 8809184 8809184 G A exonic OXTR NA synonymous SNV OXTR:NM_000916:exon3:c.C690T:p.N230N exonic ENSG00000180914 NA synonymous SNV ENSG00000180914:ENST00000316793:exon3:c.C690T:p.N230N NA NA 3p25.3 NA Name=GATA-2,GATA3_(SC-268) Name=86 NA rs237902 0.24 0.24 0.268 0.247604 0.327 0.0546 0.2305 0.3124 0.2894 0.33 0.04 0.24 0.32 0.3167 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.764117 NA NA 0.343648 0.301273 ID=COSM447068;OCCURENCE=1(breast) 0.072 NA 6.6793186 992 5 145894896 145894896 G C exonic GPR151 NA nonsynonymous SNV GPR151:NM_194251:exon1:c.C781G:p.L261V exonic ENSG00000173250 NA nonsynonymous SNV ENSG00000173250:ENST00000311104:exon1:c.C781G:p.L261V NA NA 5q32 NA NA NA NA rs7709485 0.36 0.36 0.342 0.342053 0.1958 0.7669 0.183 0.2519 0.2894 0.19 0.8 0.22 0.23 0.2601 0.8 0.58 T 0.002 B 0.011 B 0.004 N 1.000 P 1.355 L 1.19 T -0.988 T 0.000 T 0.04 -1.004 0.255 -1.58 -0.538 -0.025 9.167 -1.003594 NA 0.74 0.200698 0.233091 NA 0.261 NA 6.6767354 992 1 227182033 227182033 G A exonic CDC42BPA NA nonsynonymous SNV CDC42BPA:NM_014826:exon35:c.C4853T:p.A1618V,CDC42BPA:NM_003607:exon36:c.C5096T:p.A1699V exonic ENSG00000143776 NA nonsynonymous SNV ENSG00000143776:ENST00000366764:exon35:c.C5012T:p.A1671V,ENSG00000143776:ENST00000366767:exon35:c.C4853T:p.A1618V,ENSG00000143776:ENST00000366769:exon36:c.C5096T:p.A1699V,ENSG00000143776:ENST00000535525:exon36:c.C5036T:p.A1679V,ENSG00000143776:ENST00000334218:exon37:c.C5282T:p.A1761V,ENSG00000143776:ENST00000366765:exon37:c.C5135T:p.A1712V,ENSG00000143776:ENST00000366766:exon37:c.C5201T:p.A1734V NA NA 1q42.13 NA Name=TBP,Pol2,HEY1 NA NA rs2802269 0.9 0.9 0.877 0.878195 0.8738 0.8869 0.8718 0.9259 0.8139 0.88 0.89 0.89 0.93 0.8883 0.93 1 T 0.0 B 0.002 B 0.107 N 1.000 P 0.205 N -0.16 T -0.940 T 0.000 T 0.313 1.607 11.33 1.22 -0.225 2.033 5.596 1.606604 1.606604 0.64 0.894651 0.9203 NA 0.949 NA 6.6765824 992 17 35743010 35743010 C G exonic C17orf78 NA nonsynonymous SNV C17orf78:NM_173625:exon4:c.C455G:p.T152S exonic ENSG00000167230 NA nonsynonymous SNV ENSG00000167230:ENST00000300618:exon4:c.C455G:p.T152S NA NA 17q12 NA NA NA NA rs1714987 0.32 0.32 0.302 0.316294 0.1918 0.5377 0.2493 0.2526 0.3497 0.19 0.55 0.25 0.29 0.2838 0.55 0.33 T 0.015 B 0.015 B 0.350 N 1.000 P 0.975 L 0.82 T -0.917 T 0.000 T 0.034 0.94 8.831 1.87 0.375 -0.114 7.196 0.940004 NA 0.4 0.181202 0.243868 ID=COSM148253;OCCURENCE=1(stomach) 0.232 NA 6.6765314 992 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=Pol2,TAF1,GABP,CEBPB 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 992 12 55887087 55887087 G T exonic OR6C68 NA nonsynonymous SNV OR6C68:NM_001005519:exon1:c.G926T:p.R309L exonic ENSG00000205327 NA nonsynonymous SNV ENSG00000205327:ENST00000379662:exon1:c.G941T:p.R314L,ENSG00000205327:ENST00000548615:exon1:c.G926T:p.R309L NA NA 12q13.2 NA NA NA NA rs12579181 0.37 0.37 0.378 0.367612 0.1938 0.5694 0.2334 0.5242 0.2219 0.2 0.58 0.23 0.49 0.2667 0.58 0.69 T 0.0 B 0.0 B 0.257 N 1.000 P 0 N 1.12 T -0.928 T 0.000 T 0.041 -0.783 0.723 1.78 -0.015 -0.342 1.314 -0.782679 NA 0.85 0.197066 0.451107 NA 0.391 NA 6.6757674 992 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=HEY1,TAF1,NFKB,Pol2-4H8,Pol2,GTF2F1_(RAP-74),Pol2(b),TBP 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 993 15 52556429 52556429 A G exonic MYO5C NA synonymous SNV MYO5C:NM_018728:exon9:c.T1005C:p.N335N exonic ENSG00000128833 NA synonymous SNV ENSG00000128833:ENST00000261839:exon9:c.T1005C:p.N335N,ENSG00000128833:ENST00000559459:exon9:c.T1005C:p.N335N,ENSG00000128833:ENST00000443683:exon10:c.T834C:p.N278N NA NA 15q21.2 NA NA NA NA rs4776032 0.98 0.98 0.978 0.972444 1 1 0.9957 0.8979 1 1 1 0.99 0.91 0.9921 1 0.09 T 0.0 B 0.001 B . . 0.000 P . . . . -0.845 T 0.000 T . -0.055 3.735 -9.8 -2.705 -1.099 23.972 -0.05474 NA 1 0.999758 0.905801 NA 1 NA 6.6748086 993 16 69354963 69354963 A G exonic VPS4A NA synonymous SNV VPS4A:NM_013245:exon9:c.A861G:p.K287K exonic ENSG00000132612 NA synonymous SNV ENSG00000132612:ENST00000254950:exon9:c.A861G:p.K287K Score=483;Name=lod=122 NA 16q22.1 NA Name=ZNF263 NA NA rs1127231 0.24 0.24 0.238 0.270966 0.2863 0.0833 0.2147 0.3714 0.3528 0.28 0.09 0.24 0.35 0.3944 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.263 1.263 NA 0.312006 0.381441 NA 0.355 NA 6.6739606 993 8 29927321 29927321 A G exonic TMEM66 NA synonymous SNV TMEM66:NM_016127:exon3:c.T537C:p.I179I exonic ENSG00000133872 NA synonymous SNV ENSG00000133872:ENST00000523127:exon1:c.T231C:p.I77I,ENSG00000133872:ENST00000536273:exon2:c.T21C:p.I7I,ENSG00000133872:ENST00000256255:exon3:c.T537C:p.I179I,ENSG00000133872:ENST00000522794:exon3:c.T429C:p.I143I,ENSG00000133872:ENST00000545648:exon4:c.T21C:p.I7I NA NA 8p12 NA NA NA NA rs6468094 0.98 0.98 0.975 0.973642 1 1 0.9928 0.9039 1 1 1 0.99 0.92 0.993 1 . . . . . . . . 0.003 P . . . . -1.091 T 0.000 T . -0.869 0.506 -9.27 -2.877 -2.603 13.574 -0.868643 NA NA 0.999884 0.935089 NA 0.964 NA 6.6737826 993 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 993 X 69774517 69774517 A T exonic TEX11 NA synonymous SNV TEX11:NM_031276:exon26:c.T2274A:p.T758T,TEX11:NM_001003811:exon27:c.T2319A:p.T773T exonic ENSG00000120498 NA synonymous SNV ENSG00000120498:ENST00000374320:exon15:c.T1344A:p.T448T,ENSG00000120498:ENST00000344304:exon25:c.T2319A:p.T773T,ENSG00000120498:ENST00000374333:exon26:c.T2274A:p.T758T,ENSG00000120498:ENST00000395889:exon27:c.T2319A:p.T773T Score=313;Name=lod=25 NA Xq13.1 NA Name=STAT3 Name=17 NA rs4844240 0.98 0.98 0.97774 NA NA NA NA NA NA 1 1 0.99 0.91 0.9943 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.318487 NA NA 0.999554 0.943677 NA 0.732 NA 6.6728126 993 6 36098410 36098410 A C exonic MAPK13 NA synonymous SNV MAPK13:NM_002754:exon1:c.A51C:p.T17T exonic ENSG00000156711 NA synonymous SNV ENSG00000156711:ENST00000211287:exon1:c.A51C:p.T17T,ENSG00000156711:ENST00000373761:exon1:c.A51C:p.T17T,ENSG00000156711:ENST00000373766:exon1:c.A51C:p.T17T Score=544;Name=lod=217 NA 6p21.31 NA Name=HEY1 Name=92 NA rs1059227 0.77 0.77 0.609 0.748602 0.6441 0.9454 0.7176 0.8064 0.5971 0.65 0.95 0.73 0.79 0.69 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 1.657956 1.657956 NA 0.660191 0.761245 ID=COSM451356,COSM1487700;OCCURENCE=2(breast) NA NA 6.6723756 993 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 993 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 993 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 993 12 124069213 124069213 T C exonic TMED2 NA synonymous SNV TMED2:NM_006815:exon1:c.T30C:p.L10L exonic ENSG00000086598 NA synonymous SNV ENSG00000086598:ENST00000262225:exon1:c.T30C:p.L10L,ENSG00000086598:ENST00000438031:exon1:c.T30C:p.L10L Score=721;Name=lod=1132 NA 12q24.31 Score=807;Name=V$NRSF_01 Name=Pol2,Ini1,Pol2-4H8,HEY1 Name=10 NA rs786446 0.99 0.99 0.994 0.989018 1 1 0.9942 0.9614 1 1 1 1 0.96 0.9967 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.66068 2.66068 NA 0.999884 0.962324 NA 0.935 NA 6.6700826 993 2 54886347 54886347 G A exonic SPTBN1 NA synonymous SNV SPTBN1:NM_178313:exon30:c.G6261A:p.P2087P,SPTBN1:NM_003128:exon31:c.G6300A:p.P2100P exonic ENSG00000115306 NA synonymous SNV ENSG00000115306:ENST00000333896:exon30:c.G6261A:p.P2087P,ENSG00000115306:ENST00000356805:exon31:c.G6300A:p.P2100P Score=603;Name=lod=376 NA 2p16.2 Score=770;Name=V$YY1_02 NA NA NA rs1052820 0.3 0.3 0.285 0.278155 0.3469 0.2877 0.3617 0.1498 0.3119 0.37 0.29 0.35 0.16 0.3276 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.407731 1.407731 NA 0.322209 0.185656 ID=COSM148858;OCCURENCE=1(stomach) 0.275 NA 6.6699576 993 X 53563589 53563589 A G exonic HUWE1 NA synonymous SNV HUWE1:NM_031407:exon79:c.T12177C:p.G4059G exonic ENSG00000086758 NA synonymous SNV ENSG00000086758:ENST00000342160:exon78:c.T12177C:p.G4059G,ENSG00000086758:ENST00000262854:exon79:c.T12177C:p.G4059G Score=777;Name=lod=1916 NA Xp11.22 NA NA NA NA rs426298 0.99 0.99 0.98967 NA NA NA NA NA NA 1 1 1 0.97 0.9973 1 . . . . . . . . 0.000 P . . . . -1.030 T 0.000 T . 0.823 8.313 0.071 -0.210 -0.388 0.878 0.822543 NA NA 0.999703 0.978357 NA 0.746 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082281.3;CLNDSDB=.;CLNDSDBID=. 6.6696636 993 8 43054553 43054553 T C exonic HGSNAT NA synonymous SNV HGSNAT:NM_152419:exon18:c.T1749C:p.Y583Y exonic ENSG00000165102 NA synonymous SNV ENSG00000165102:ENST00000297798:exon9:c.T945C:p.Y315Y,ENSG00000165102:ENST00000521576:exon9:c.T900C:p.Y300Y,ENSG00000165102:ENST00000379644:exon18:c.T1749C:p.Y583Y,ENSG00000165102:ENST00000458501:exon18:c.T1833C:p.Y611Y Score=387;Name=lod=50 NA 8p11.21 Score=782;Name=V$MYCMAX_03 NA Name=92 NA rs1126058 0.99 0.99 0.995 0.991613 1 1 0.9971 0.9697 1 1 1 1 0.98 0.9974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.085661 NA NA 0.99965 0.973059 NA 0.993 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082655.1;CLNDSDB=.;CLNDSDBID=. 6.6696166 993 17 80674643 80674643 C G exonic FN3KRP NA synonymous SNV FN3KRP:NM_024619:exon1:c.C12G:p.L4L exonic ENSG00000141560 NA synonymous SNV ENSG00000141560:ENST00000269373:exon1:c.C12G:p.L4L,ENSG00000141560:ENST00000574356:exon1:c.C12G:p.L4L,ENSG00000141560:ENST00000574832:exon1:c.C12G:p.L4L Score=429;Name=lod=74 NA 17q25.3 Score=783;Name=V$PAX5_02 Name=HEY1,TAF1,GABP,Pol2-4H8,E2F6_(H-50),E2F6,POU2F2,Pol2(phosphoS2),FOXA1_(C-20),Pol2,CHD2_(N-1250),HA-E2F1,Egr-1,TBP,ZBTB7A_(SC-34508),YY1,E2F4,Sin3Ak-20,NRSF,ZBTB33,YY1_(C-20),SP1,Oct-2 Name=147 NA rs2250000 0.99 0.99 0.995 0.99381 0.999 1 0.9986 0.9781 1 1 1 1 0.97 0.9982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.534691 NA NA 1 0.97844 NA 0.109 NA 6.6694666 993 10 91488979 91488979 A T exonic KIF20B NA nonsynonymous SNV KIF20B:NM_016195:exon18:c.A2246T:p.H749L exonic ENSG00000138182 NA nonsynonymous SNV ENSG00000138182:ENST00000260753:exon18:c.A2246T:p.H749L,ENSG00000138182:ENST00000371728:exon18:c.A2366T:p.H789L,ENSG00000138182:ENST00000394289:exon18:c.A2366T:p.H789L,ENSG00000138182:ENST00000416354:exon18:c.A2366T:p.H789L NA NA 10q23.31 NA NA NA NA rs3758388 0.23 0.23 0.203 0.209065 0.2416 0.3621 0.2133 0.0492 0.2311 0.24 0.38 0.21 0.05 0.2231 0.38 0.43 T 0.069 B 0.037 B 0.772 N 1.000 P 1.7 L -0.18 T -1.018 T 0.000 T 0.12 -0.357 2.315 0.696 -0.052 0.719 6.018 -0.356936 NA 0.1 0.199197 0.071196 NA 0.174 NA 6.6694364 993 1 16475126 16475126 C T exonic EPHA2 NA synonymous SNV EPHA2:NM_004431:exon3:c.G570A:p.A190A exonic ENSG00000142627 NA synonymous SNV ENSG00000142627:ENST00000358432:exon3:c.G570A:p.A190A Score=476;Name=lod=115 NA 1p36.13 NA NA Name=6 NA rs6678618 0.23 0.23 0.213 0.226637 0.3618 0.0308 0.366 0.146 0.2996 0.37 0.02 0.35 0.17 0.29 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178943 NA NA 0.345465 0.166591 ID=COSM1178394;OCCURENCE=1(prostate) 0.268 NA 6.6694016 993 3 13679335 13679335 C T exonic FBLN2 NA synonymous SNV FBLN2:NM_001998:exon17:c.C3471T:p.D1157D,FBLN2:NM_001004019:exon18:c.C3612T:p.D1204D,FBLN2:NM_001165035:exon18:c.C3612T:p.D1204D exonic ENSG00000163520 NA synonymous SNV ENSG00000163520:ENST00000295760:exon17:c.C3471T:p.D1157D,ENSG00000163520:ENST00000535798:exon17:c.C3549T:p.D1183D,ENSG00000163520:ENST00000404922:exon18:c.C3612T:p.D1204D,ENSG00000163520:ENST00000492059:exon18:c.C3612T:p.D1204D Score=545;Name=lod=218 NA 3p25.1 Score=787;Name=V$PPARA_01 NA NA NA rs1061376 0.48 0.48 0.513 0.494808 0.3241 0.6399 0.3761 0.6876 0.3446 0.31 0.6 0.38 0.68 0.3746 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.094759 NA NA 0.298667 0.570005 NA 0.442 NA 6.6692996 993 5 55082474 55082474 C T exonic DDX4 NA synonymous SNV DDX4:NM_001166534:exon7:c.C546T:p.C182C,DDX4:NM_001142549:exon13:c.C891T:p.C297C,DDX4:NM_001166533:exon13:c.C933T:p.C311C,DDX4:NM_024415:exon14:c.C993T:p.C331C exonic ENSG00000152670 NA synonymous SNV ENSG00000152670:ENST00000511853:exon7:c.C546T:p.C182C,ENSG00000152670:ENST00000354991:exon12:c.C891T:p.C297C,ENSG00000152670:ENST00000353507:exon13:c.C891T:p.C297C,ENSG00000152670:ENST00000506511:exon13:c.C933T:p.C311C,ENSG00000152670:ENST00000514278:exon13:c.C933T:p.C311C,ENSG00000152670:ENST00000505374:exon14:c.C993T:p.C331C Score=578;Name=lod=298 NA 5q11.2 Score=794;Name=V$PBX1_02 NA NA NA rs957459 0.46 0.46 0.456 0.465056 0.3091 0.497 0.5519 0.6339 0.3027 0.3 0.48 0.46 0.67 0.372 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 1.109194 NA NA 0.316395 0.586246 NA 0.493 NA 6.6691716 993 1 16475123 16475123 C T exonic EPHA2 NA synonymous SNV EPHA2:NM_004431:exon3:c.G573A:p.L191L exonic ENSG00000142627 NA synonymous SNV ENSG00000142627:ENST00000358432:exon3:c.G573A:p.L191L Score=476;Name=lod=115 NA 1p36.13 NA NA Name=6 NA rs6678616 0.23 0.23 0.216 0.226438 0.3618 0.0308 0.366 0.146 0.2986 0.37 0.02 0.35 0.17 0.29 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.989234 NA NA 0.345698 0.166364 NA 0.268 NA 6.6691686 993 1 82421596 82421596 C T exonic LPHN2 NA synonymous SNV LPHN2:NM_012302:exon9:c.C1818T:p.P606P exonic ENSG00000117114 NA synonymous SNV ENSG00000117114:ENST00000319517:exon9:c.C1818T:p.P606P,ENSG00000117114:ENST00000370713:exon9:c.C1818T:p.P606P,ENSG00000117114:ENST00000370715:exon9:c.C1818T:p.P606P,ENSG00000117114:ENST00000394879:exon9:c.C1818T:p.P606P,ENSG00000117114:ENST00000271029:exon10:c.C1857T:p.P619P,ENSG00000117114:ENST00000335786:exon10:c.C1857T:p.P619P,ENSG00000117114:ENST00000359929:exon10:c.C1818T:p.P606P,ENSG00000117114:ENST00000370717:exon10:c.C1857T:p.P619P,ENSG00000117114:ENST00000370723:exon12:c.C1818T:p.P606P,ENSG00000117114:ENST00000370721:exon13:c.C1632T:p.P544P,ENSG00000117114:ENST00000370725:exon13:c.C1857T:p.P619P,ENSG00000117114:ENST00000370727:exon13:c.C1857T:p.P619P,ENSG00000117114:ENST00000370728:exon13:c.C1857T:p.P619P,ENSG00000117114:ENST00000370730:exon13:c.C1857T:p.P619P Score=612;Name=lod=411 NA 1p31.1 NA NA NA NA rs11163397 1 1 0.997 0.99401 1 1 0.9942 0.9803 1 1 1 0.99 0.99 0.9979 1 0 D . . . . 0.000 D 0.000 P . . 2.85 T -1.025 T 0.014 T . 1.201 9.88 -0.15 -0.647 -0.448 4.753 1.201222 NA NA 1 0.976396 NA 0.986 NA 6.6687666 993 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,Pol2,USF2,Pol2(phosphoS2),BCLAF1_(M33-P5B11),HEY1,ELF1_(SC-631),Pol2-4H8,CTCF_(C-20),NFKB,ZBTB33 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 993 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$GR_Q6 NA NA NA rs8048410 0.46 0.46 0.471 0.505192 0.2982 0.5675 0.3934 0.7179 0.4458 0.29 0.54 0.38 0.71 0.3909 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634243 NA NA 0.31 0.643929 NA 0.406 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117257.2;CLNDSDB=.;CLNDSDBID=. 6.6675666 993 1 12024235 12024235 C T exonic PLOD1 NA synonymous SNV PLOD1:NM_000302:exon12:c.C1206T:p.N402N exonic ENSG00000083444 NA synonymous SNV ENSG00000083444:ENST00000196061:exon12:c.C1206T:p.N402N,ENSG00000083444:ENST00000376369:exon13:c.C1347T:p.N449N Score=429;Name=lod=74 NA 1p36.22 Score=887;Name=V$OCT1_03 NA NA NA rs1130529 0.32 0.32 0.287 0.348442 0.3151 0.3839 0.3545 0.2693 0.4489 0.32 0.35 0.35 0.28 0.3631 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.078766 NA NA 0.321047 0.29074 NA 0.275 NA 6.6674196 993 19 8154990 8154990 C T exonic FBN3 NA synonymous SNV FBN3:NM_032447:exon48:c.G6177A:p.E2059E exonic ENSG00000142449 NA synonymous SNV ENSG00000142449:ENST00000270509:exon48:c.G6177A:p.E2059E,ENSG00000142449:ENST00000600128:exon49:c.G6177A:p.E2059E,ENSG00000142449:ENST00000601739:exon49:c.G6177A:p.E2059E Score=489;Name=lod=130 NA 19p13.2 NA NA NA NA rs35002391 0.26 0.26 0.296 0.245208 0.337 0.0724 0.219 0.3691 0.18 0.34 0.08 0.25 0.37 0.2954 0.37 0.39 T . . . . . . 0.000 P . . . . -0.961 T 0.000 T . -1.129 0.118 0.32 -0.046 -0.251 11.405 -1.128823 NA 0.76 0.36686 0.362914 NA 0.304 NA 6.6674066 993 15 67692502 67692502 T C exonic IQCH NA synonymous SNV IQCH:NM_001031715:exon14:c.T1956C:p.R652R exonic ENSG00000103599 NA synonymous SNV ENSG00000103599:ENST00000360277:exon6:c.T939C:p.R313R,ENSG00000103599:ENST00000358767:exon13:c.T1164C:p.R388R,ENSG00000103599:ENST00000546225:exon13:c.T927C:p.R309R,ENSG00000103599:ENST00000335894:exon14:c.T1956C:p.R652R Score=461;Name=lod=100 NA 15q23 Score=774;Name=V$MEF2_03 Name=USF-1,MafK_(ab50322),YY1,eGFP-JunD Name=2 NA rs7495023 1 1 0.997 0.997804 1 1 1 0.9917 1 1 1 1 0.99 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.327085 NA NA 1 0.992958 NA 1 NA 6.6673666 993 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 993 11 47188314 47188314 T C exonic ARFGAP2 NA synonymous SNV ARFGAP2:NM_001242832:exon12:c.A1245G:p.A415A,ARFGAP2:NM_032389:exon13:c.A1329G:p.A443A exonic ENSG00000149182 NA synonymous SNV ENSG00000149182:ENST00000526342:exon4:c.A450G:p.A150A,ENSG00000149182:ENST00000319543:exon7:c.A522G:p.A174A,ENSG00000149182:ENST00000426335:exon8:c.A921G:p.A307A,ENSG00000149182:ENST00000419701:exon12:c.A1008G:p.A336A,ENSG00000149182:ENST00000524782:exon13:c.A1329G:p.A443A NA NA 11p11.2 NA NA NA NA rs4752820 1 1 0.999 0.998802 1 1 0.9986 0.9962 1 1 1 1 0.99 0.9996 1 . . . . . . . . 0.000 P . . . . -1.017 T 0.000 T . 1.891 12.28 -9.14 -2.249 -1.137 0.259 1.891497 1.891497 NA 1 0.994548 NA 0.993 NA 6.6670666 993 1 91728053 91728053 G A exonic HFM1 NA synonymous SNV HFM1:NM_001017975:exon37:c.C4071T:p.A1357A exonic ENSG00000162669 NA synonymous SNV ENSG00000162669:ENST00000370424:exon33:c.C3108T:p.A1036A,ENSG00000162669:ENST00000370425:exon37:c.C4071T:p.A1357A Score=251;Name=lod=14 NA 1p22.2 NA NA NA NA rs585898 1 1 0.997 0.999201 1 1 1 0.997 1 1 1 1 0.99 0.9997 1 . . . . . . . . 0.000 P . . . . -1.069 T 0.055 T . -0.428 2.007 2.9 0.446 2.146 6.183 -0.427912 NA NA 1 0.997049 NA 1 NA 6.6669666 993 13 107145463 107145463 G C exonic EFNB2 NA synonymous SNV EFNB2:NM_004093:exon5:c.C927G:p.G309G exonic ENSG00000125266 NA synonymous SNV ENSG00000125266:ENST00000245323:exon5:c.C927G:p.G309G Score=565;Name=lod=264 NA 13q33.3 Score=805;Name=V$CDPCR3_01 Name=NRSF Name=3 NA rs7995379 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 1.211108 NA NA 1 0.998411 NA 1 NA 6.6667666 993 11 1011490 1011490 G A UTR3 AP2A2 NM_012305:c.*865G>A,NM_001242837:c.*865G>A NA NA UTR3 ENSG00000183020 ENST00000448903:c.*865G>A NA NA NA NA 11p15.5 Score=706;Name=V$BRACH_01 NA NA NA rs7950955 0.46 0.46 0.425 0.429313 0.5686 0.2946 0.6628 0.3555 0.3589 0.56 0.31 0.63 0.34 0.5591 0.63 0 D . . . . . . 1.000 P . . . . -0.945 T 0.000 T . 0.033 4.184 0.17 0.037 1.159 4.282 0.032747 NA 1 0.538889 0.349133 NA 0.558 NA 6.6667444 993 11 17333663 17333663 G A splicing NUCB2 NM_005013:exon10:c.907+1G>A NA NA exonic ENSG00000070081 NA nonsynonymous SNV ENSG00000070081:ENST00000458064:exon8:c.G908A:p.S303N,ENSG00000070081:ENST00000323688:exon10:c.G908A:p.S303N,ENSG00000070081:ENST00000529010:exon10:c.G908A:p.S303N,ENSG00000070081:ENST00000533773:exon14:c.G908A:p.S303N Score=637;Name=lod=519 NA 11p15.1 NA NA NA NA rs2521998 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.58 T 0.0 B 0.0 B 0.000 N 1.000 P -0.67 N -0.41 T -0.971 T 0.000 T 0.067 0.912 8.71 3.03 0.043 4.506 5.854 0.911882 NA 0.58 1 0.999722 NA 1 NA 6.6666667 993 11 118529078 118529078 G C exonic TREH NA unknown UNKNOWN exonic ENSG00000118094 NA nonsynonymous SNV ENSG00000118094:ENST00000530256:exon13:c.C1303G:p.P435A,ENSG00000118094:ENST00000397925:exon14:c.C1579G:p.P527A,ENSG00000118094:ENST00000525958:exon14:c.C1579G:p.P527A,ENSG00000118094:ENST00000264029:exon15:c.C1672G:p.P558A,ENSG00000118094:ENST00000529101:exon15:c.C1672G:p.P558A NA NA 11q23.3 NA NA NA NA rs6589671 1 1 1 1 1 1 1 1 1 1 0.99 1 1 1 1 0.27 T 0.0 B 0.002 B 0.901 N 1.000 P . . 2.54 T -1.020 T 0.000 T 0.068 -0.705 0.956 -9.7 -1.997 -0.744 2.296 -0.704717 NA 1 NA NA NA 0.993 NA 6.6666667 993 1 11119899 11119899 T C exonic SRM NA synonymous SNV SRM:NM_003132:exon1:c.A102G:p.S34S exonic ENSG00000116649 NA synonymous SNV ENSG00000116649:ENST00000376957:exon1:c.A102G:p.S34S,ENSG00000116649:ENST00000459997:exon1:c.A102G:p.S34S Score=598;Name=lod=358 NA 1p36.22 Score=912;Name=V$MEIS1_01 Name=Pol2 NA NA rs7545802 1 1 1 1 1 1 1 1 1 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 2.176144 2.176144 NA NA NA NA 0.326 NA 6.6666666 993 4 3475252 3475252 T C exonic DOK7 NA synonymous SNV DOK7:NM_001164673:exon3:c.T220C:p.L74L,DOK7:NM_173660:exon3:c.T220C:p.L74L exonic ENSG00000175920 NA synonymous SNV ENSG00000175920:ENST00000340083:exon3:c.T220C:p.L74L,ENSG00000175920:ENST00000389653:exon3:c.T220C:p.L74L,ENSG00000175920:ENST00000507039:exon3:c.T220C:p.L74L Score=588;Name=lod=326 NA 4p16.3 Score=764;Name=V$SRF_01 NA Name=4 NA rs4325970 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.990772 NA NA NA NA NA 0.993 NA 6.6666666 993 12 15103605 15103605 A G exonic ARHGDIB NA synonymous SNV ARHGDIB:NM_001175:exon2:c.T42C:p.D14D exonic ENSG00000111348 NA synonymous SNV ENSG00000111348:ENST00000228945:exon2:c.T42C:p.D14D,ENSG00000111348:ENST00000541380:exon2:c.T42C:p.D14D,ENSG00000111348:ENST00000541644:exon2:c.T42C:p.D14D,ENSG00000111348:ENST00000542276:exon2:c.T42C:p.D14D,ENSG00000111348:ENST00000545895:exon2:c.T42C:p.D14D,ENSG00000111348:ENST00000541546:exon3:c.T42C:p.D14D NA NA 12p12.3 NA Name=MEF2A,MEF2C_(SC-13268),YY1_(C-20),PAX5-N19 Name=16 NA rs2430711 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . . . 1.000 P . . . . . . . . . -1.819 0.009 -0.591 -1.108 -1.475 . -1.819442 NA NA 1 0.999773 NA 0.993 NA 6.6666666 993 19 19735257 19735257 G T exonic LPAR2 NA synonymous SNV LPAR2:NM_004720:exon3:c.C864A:p.S288S exonic ENSG00000064547 NA synonymous SNV ENSG00000064547:ENST00000407877:exon3:c.C864A:p.S288S,ENSG00000064547:ENST00000586703:exon3:c.C864A:p.S288S,ENSG00000064547:ENST00000542587:exon6:c.C864A:p.S288S Score=517;Name=lod=169 NA 19p13.11 Score=780;Name=V$PPARG_03 NA Name=2 NA rs1266503 1 1 1 1 1 1 1 1 1 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 1.034655 NA NA NA NA NA 0.978 NA 6.6666666 993 19 56206348 56206348 C A exonic EPN1 NA synonymous SNV EPN1:NM_013333:exon9:c.C1443A:p.G481G,EPN1:NM_001130071:exon10:c.C1779A:p.G593G,EPN1:NM_001130072:exon10:c.C1521A:p.G507G exonic ENSG00000063245 NA synonymous SNV ENSG00000063245:ENST00000085079:exon9:c.C1443A:p.G481G,ENSG00000063245:ENST00000270460:exon10:c.C1521A:p.G507G,ENSG00000063245:ENST00000411543:exon10:c.C1779A:p.G593G NA NA 19q13.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.350462 NA NA NA NA NA NA NA 6.6666666 993 20 42939750 42939750 T C exonic FITM2 NA synonymous SNV FITM2:NM_001080472:exon1:c.A39G:p.G13G exonic ENSG00000197296 NA synonymous SNV ENSG00000197296:ENST00000396825:exon1:c.A39G:p.G13G Score=487;Name=lod=127 NA 20q13.12 NA Name=CCNT2,TBP,CEBPB,YY1,HNF4A_(H-171),GR,ZNF263,BAF155,ZBTB33,YY1_(C-20),c-Myc,SP1,Nrf1,Sin3Ak-20,BAF170,NRSF,TAF1,HMGN3,NFKB,Pol2-4H8,HNF4A,ELF1_(SC-631),HEY1,HNF4G_(SC-6558),GATA-1,FOSL2,Pol2,Pol2(phosphoS2),p300,Ini1,TCF12,E2F6 Name=148 NA rs6073401 1 1 1 1 1 1 1 1 1 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 1.376124 1.376124 NA NA NA NA 0.957 NA 6.6666666 993 22 38506509 38506509 A G exonic BAIAP2L2 NA synonymous SNV BAIAP2L2:NM_025045:exon1:c.T24C:p.F8F exonic ENSG00000128298 NA synonymous SNV ENSG00000128298:ENST00000332536:exon1:c.T24C:p.F8F,ENSG00000128298:ENST00000381669:exon1:c.T24C:p.F8F Score=535;Name=lod=199 NA 22q13.1 NA Name=Pol2 Name=20 NA rs4820313 1 1 1 1 1 1 1 1 1 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 0.258192 NA NA NA NA NA 1 NA 6.6666666 993 X 82764040 82764040 A G exonic POU3F4 NA synonymous SNV POU3F4:NM_000307:exon1:c.A708G:p.E236E exonic ENSG00000196767 NA synonymous SNV ENSG00000196767:ENST00000373200:exon1:c.A708G:p.E236E Score=752;Name=lod=1515 NA Xq21.1 NA NA NA NA rs5921978 0.92 0.92 NA NA NA NA NA NA NA 0.91 0.94 0.95 0.9 1 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 0.253368 NA NA NA NA NA NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036259.1;CLNDSDB=.;CLNDSDBID=. 6.6666666 993 X 151562913 151562913 G A ncRNA_exonic MIR105-2 NA NA NA ncRNA_exonic ENSG00000207818 NA NA NA Score=493;Name=lod=134 NA Xq28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.128561 2.128561 NA NA NA NA NA NA 6.6666666 993 1 196973906 196973906 T C exonic CFHR5 NA synonymous SNV CFHR5:NM_030787:exon9:c.T1446C:p.Y482Y exonic ENSG00000134389 NA synonymous SNV ENSG00000134389:ENST00000256785:exon9:c.T1446C:p.Y482Y,ENSG00000134389:ENST00000367414:exon9:c.T1518C:p.Y506Y NA NA 1q31.3 NA 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 -0.472017 NA NA NA NA NA NA NA 6.6666584 993 8 30694893 30694893 T C exonic TEX15 NA synonymous SNV TEX15:NM_031271:exon3:c.A7758G:p.T2586T exonic ENSG00000133863 NA synonymous SNV ENSG00000133863:ENST00000256246:exon3:c.A7758G:p.T2586T NA NA 8p12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008241 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197223 NA NA NA NA NA NA NA 6.6666584 993 16 1035197 1035197 C T exonic SOX8 NA synonymous SNV SOX8:NM_014587:exon3:c.C1152T:p.G384G exonic ENSG00000005513 NA synonymous SNV ENSG00000005513:ENST00000293894:exon3:c.C1152T:p.G384G NA NA 16p13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000009414 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.109671 NA NA NA NA NA NA NA 6.6666572 993 5 140799643 140799643 T C exonic PCDHGB7 NA synonymous SNV PCDHGB7:NM_018927:exon1:c.T2217C:p.G739G,PCDHGB7:NM_032101:exon1:c.T2217C:p.G739G exonic ENSG00000254122 NA synonymous SNV ENSG00000254122:ENST00000398594:exon1:c.T2217C:p.G739G NA NA 5q31.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002485 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657454 NA NA NA NA NA NA NA 6.6666418 993 16 239296 239296 G A exonic LUC7L NA synonymous SNV LUC7L:NM_201412:exon10:c.C1017T:p.S339S exonic ENSG00000007392 NA synonymous SNV ENSG00000007392:ENST00000429378:exon5:c.C414T:p.S138S,ENSG00000007392:ENST00000293872:exon10:c.C1017T:p.S339S NA NA 16p13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.125322 NA NA NA NA NA NA NA 6.6666329 993 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 993 13 25480142 25480142 G A exonic CENPJ NA synonymous SNV CENPJ:NM_018451:exon7:c.C2034T:p.V678V exonic ENSG00000151849 NA synonymous SNV ENSG00000151849:ENST00000381884:exon7:c.C2034T:p.V678V,ENSG00000151849:ENST00000545981:exon7:c.C2034T:p.V678V NA NA 13q12.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005776 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.051279 NA NA NA NA NA NA NA 6.6666088 993 12 57560777 57560777 G A exonic LRP1 NA synonymous SNV LRP1:NM_002332:exon18:c.G2862A:p.T954T exonic ENSG00000123384 NA synonymous SNV ENSG00000123384:ENST00000243077:exon18:c.G2862A:p.T954T NA NA 12q13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006593 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.685704 NA NA NA NA NA NA NA 6.6666007 993 15 50555483 50555483 G A exonic HDC NA synonymous SNV HDC:NM_002112:exon2:c.C153T:p.P51P exonic ENSG00000140287 NA synonymous SNV ENSG00000140287:ENST00000559683:exon1:c.C135T:p.P45P,ENSG00000140287:ENST00000267845:exon2:c.C153T:p.P51P,ENSG00000140287:ENST00000543581:exon2:c.C153T:p.P51P NA NA 15q21.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00007428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.145812 NA NA NA NA NA NA NA 6.6665923 993 9 80043886 80043886 G A exonic GNA14 NA synonymous SNV GNA14:NM_004297:exon5:c.C660T:p.T220T exonic ENSG00000156049 NA synonymous SNV ENSG00000156049:ENST00000341700:exon5:c.C660T:p.T220T Score=672;Name=lod=721 NA 9q21.2 NA NA NA NA rs199888332 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005767 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 1.292905 1.292905 NA 0.000116 0 NA NA NA 6.6664929 993 19 8188771 8188771 G A exonic FBN3 NA synonymous SNV FBN3:NM_032447:exon22:c.C2853T:p.C951C exonic ENSG00000142449 NA synonymous SNV ENSG00000142449:ENST00000270509:exon22:c.C2853T:p.C951C,ENSG00000142449:ENST00000600128:exon23:c.C2853T:p.C951C,ENSG00000142449:ENST00000601739:exon23:c.C2853T:p.C951C Score=423;Name=lod=70 NA 19p13.2 NA NA NA NA rs148377163 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005882 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 -0.29437 NA NA 0.000233 0 NA NA NA 6.6663748 993 3 10123089 10123089 C T exonic FANCD2 NA synonymous SNV FANCD2:NM_001018115:exon32:c.C3165T:p.Y1055Y,FANCD2:NM_033084:exon32:c.C3165T:p.Y1055Y exonic ENSG00000144554 NA synonymous SNV ENSG00000144554:ENST00000287647:exon32:c.C3165T:p.Y1055Y,ENSG00000144554:ENST00000383806:exon32:c.C3165T:p.Y1055Y,ENSG00000144554:ENST00000383807:exon32:c.C3165T:p.Y1055Y,ENSG00000144554:ENST00000419585:exon32:c.C3165T:p.Y1055Y Score=295;Name=lod=21 NA 3p25.3 NA NA NA NA rs375929975 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000906 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 0.401354 NA 1 0.000233 0.000227 ID=COSM1593185,COSM1035786;OCCURENCE=1(endometrium) NA NA 6.666343 993 1 2161153 2161153 G A exonic SKI NA synonymous SNV SKI:NM_003036:exon1:c.G948A:p.K316K exonic ENSG00000157933 NA synonymous SNV ENSG00000157933:ENST00000378536:exon1:c.G948A:p.K316K Score=522;Name=lod=176 NA 1p36.33 NA NA NA NA rs368128582 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 1.119781 NA NA 0.00024 0 NA NA NA 6.6663266 993 7 142630524 142630524 G A exonic TRPV5 NA synonymous SNV TRPV5:NM_019841:exon1:c.C33T:p.P11P exonic ENSG00000127412 NA synonymous SNV ENSG00000127412:ENST00000265310:exon1:c.C33T:p.P11P,ENSG00000127412:ENST00000439304:exon1:c.C15T:p.P5P,ENSG00000127412:ENST00000442623:exon1:c.C33T:p.P11P NA NA 7q34 NA NA NA NA rs377258108 NA NA NA NA NA 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 -1.240229 NA NA 0.000465 0 NA NA CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000054758.1;CLNDSDB=.;CLNDSDBID=. 6.6660016 993 5 180582604 180582604 A G exonic OR2V2 NA nonsynonymous SNV OR2V2:NM_206880:exon1:c.A662G:p.H221R exonic ENSG00000182613 NA nonsynonymous SNV ENSG00000182613:ENST00000328275:exon1:c.A662G:p.H221R NA NA 5q35.3 NA NA NA NA rs2546423 0.64 0.64 0.617 0.656749 0.5417 0.5665 0.7507 0.8086 0.5961 0.53 0.6 0.7 0.8 0.5922 0.8 0.83 T 0.0 B 0.002 B 0.496 N 1.000 P -0.045 N 8.78 T -0.940 T 0.000 T 0.017 -3.355 0.001 0.494 -0.030 -3.065 7.533 -3.354548 NA 0.95 0.533488 0.778711 NA 0.572 NA 6.6659454 993 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 993 4 15538666 15538666 G A exonic CC2D2A NA synonymous SNV CC2D2A:NM_001080522:exon16:c.G1731A:p.S577S exonic ENSG00000048342 NA synonymous SNV ENSG00000048342:ENST00000389652:exon13:c.G1584A:p.S528S,ENSG00000048342:ENST00000413206:exon15:c.G1731A:p.S577S,ENSG00000048342:ENST00000424120:exon15:c.G1731A:p.S577S,ENSG00000048342:ENST00000512702:exon15:c.G1731A:p.S577S,ENSG00000048342:ENST00000503292:exon16:c.G1731A:p.S577S NA NA 4p15.32 NA Name=FOXA1_(C-20) NA NA rs376746356 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0001 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 -1.006904 NA NA 0 0.000251 NA NA NA 6.6655666 993 8 100133706 100133706 T G exonic VPS13B NA stopgain VPS13B:NM_181661:exon8:c.T1239G:p.Y413X exonic ENSG00000132549 NA stopgain ENSG00000132549:ENST00000441350:exon8:c.T1239G:p.Y413X NA NA 8q22.2 NA NA NA NA rs7460625 0.66 0.66 0.675 0.705072 0.7903 0.5337 0.5807 0.7088 0.8773 0.77 0.53 0.64 0.67 0.7503 0.79 . . . . . . . . 1.000 P . . . . . . . . . 2.694 14.97 3.32 0.119 0.041 4.265 2.693883 2.693883 NA 0.793837 0.681117 NA 0.652 NA 6.665563 993 5 176004510 176004510 A G exonic CDHR2 NA synonymous SNV CDHR2:NM_001171976:exon13:c.A1305G:p.V435V,CDHR2:NM_017675:exon13:c.A1305G:p.V435V exonic ENSG00000074276 NA synonymous SNV ENSG00000074276:ENST00000506348:exon12:c.A1305G:p.V435V,ENSG00000074276:ENST00000261944:exon13:c.A1305G:p.V435V,ENSG00000074276:ENST00000510636:exon13:c.A1305G:p.V435V NA NA 5q35.2 NA NA Name=6 NA rs113113708 0.0014 0.0014 NA 0.00339457 NA NA 0.0029 0.0113 NA NA NA 0.0028 0.0041 0.0013 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 0.177539 NA NA 0 0.015433 NA NA NA 6.6653666 993 17 73016621 73016621 C T exonic ICT1 NA synonymous SNV ICT1:NM_001545:exon5:c.C405T:p.L135L exonic ENSG00000167862 NA synonymous SNV ENSG00000167862:ENST00000301585:exon5:c.C405T:p.L135L,ENSG00000167862:ENST00000584208:exon5:c.C426T:p.L142L Score=502;Name=lod=146 NA 17q25.1 NA NA Name=4 NA rs1044228 0.32 0.32 0.288 0.319888 0.3618 0.1875 0.4582 0.3306 0.3006 0.35 0.18 0.4 0.36 0.324 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.292562 1.292562 NA 0.315814 0.328189 NA 0.275 NA 6.6650526 994 17 7330264 7330264 G A exonic C17orf74 NA synonymous SNV C17orf74:NM_175734:exon3:c.G954A:p.T318T exonic ENSG00000184560 NA synonymous SNV ENSG00000184560:ENST00000333870:exon3:c.G954A:p.T318T NA NA 17p13.1 Score=764;Name=V$HTF_01 NA NA NA rs376932153 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0002 0.0005 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.280367 NA NA 0.000482 0 NA NA NA 6.6649846 994 5 37167274 37167274 C T exonic C5orf42 NA synonymous SNV C5orf42:NM_023073:exon35:c.G7275A:p.A2425A exonic ENSG00000197603 NA synonymous SNV ENSG00000197603:ENST00000509849:exon20:c.G4287A:p.A1429A,ENSG00000197603:ENST00000514429:exon20:c.G4419A:p.A1473A,ENSG00000197603:ENST00000508244:exon34:c.G7275A:p.A2425A,ENSG00000197603:ENST00000274258:exon35:c.G3915A:p.A1305A,ENSG00000197603:ENST00000425232:exon35:c.G7275A:p.A2425A Score=458;Name=lod=97 NA 5p13.2 NA NA NA NA rs137899908 0.0005 0.0005 0.001 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0004 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.937742 NA NA 0.000349 0 NA NA NA 6.6649176 994 15 28197024 28197024 G A exonic OCA2 NA synonymous SNV OCA2:NM_000275:exon18:c.C1857T:p.D619D exonic ENSG00000104044 NA synonymous SNV ENSG00000104044:ENST00000353809:exon17:c.C1785T:p.D595D,ENSG00000104044:ENST00000354638:exon18:c.C1857T:p.D619D,ENSG00000104044:ENST00000382996:exon18:c.C1857T:p.D619D Score=444;Name=lod=85 NA 15q13.1 NA NA NA NA rs7164127 0.0005 0.0005 NA 0.000399361 0.001 NA NA 0.0008 NA 0.0013 NA NA NA 0.0006 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.132442 NA NA 0.000581 0.001362 NA NA NA 6.6644856 994 19 39433299 39433299 A G exonic FBXO17 NA synonymous SNV FBXO17:NM_024907:exon6:c.T786C:p.Y262Y,FBXO17:NM_148169:exon6:c.T813C:p.Y271Y exonic ENSG00000269190 NA synonymous SNV ENSG00000269190:ENST00000292852:exon6:c.T786C:p.Y262Y,ENSG00000269190:ENST00000595329:exon6:c.T786C:p.Y262Y NA NA 19q13.2 Score=829;Name=V$GR_Q6 Name=Pol2 Name=4 NA rs8113389 0.82 0.82 0.812 0.83726 0.671 0.9782 0.8314 0.9228 0.7515 0.66 0.98 0.77 0.92 0.7096 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 -0.564715 NA NA 0.622209 0.878348 ID=COSM1129866;OCCURENCE=1(prostate) 0.812 NA 6.6638576 994 4 3417821 3417821 A G exonic RGS12 NA synonymous SNV RGS12:NM_198227:exon5:c.A456G:p.P152P,RGS12:NM_002926:exon7:c.A2400G:p.P800P,RGS12:NM_198229:exon7:c.A2400G:p.P800P exonic ENSG00000159788 NA synonymous SNV ENSG00000159788:ENST00000538395:exon4:c.A426G:p.P142P,ENSG00000159788:ENST00000338806:exon5:c.A456G:p.P152P,ENSG00000159788:ENST00000306648:exon6:c.A594G:p.P198P,ENSG00000159788:ENST00000382788:exon6:c.A2400G:p.P800P,ENSG00000159788:ENST00000336727:exon7:c.A2400G:p.P800P,ENSG00000159788:ENST00000344733:exon7:c.A2400G:p.P800P NA NA 4p16.3 Score=942;Name=V$P53_02 NA NA NA rs146573735 0.0018 0.0018 NA 0.000599042 NA NA 0.0043 NA NA NA NA 0.01 NA 0.001 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 0.855819 NA NA 0.001861 0.000454 NA NA NA 6.6638056 994 19 34942896 34942896 G A exonic UBA2 NA synonymous SNV UBA2:NM_005499:exon10:c.G882A:p.T294T exonic ENSG00000126261 NA synonymous SNV ENSG00000126261:ENST00000246548:exon10:c.G882A:p.T294T,ENSG00000126261:ENST00000439527:exon10:c.G594A:p.T198T Score=664;Name=lod=664 NA 19q13.11 NA NA NA NA rs146405147 0.0009 0.0009 0.001 0.000599042 0.002 NA NA NA 0.001 0.0026 NA NA NA 0.0008 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 -0.390218 NA NA 0.000116 0 ID=COSM286223;OCCURENCE=1(large_intestine),1(endometrium) NA NA 6.6637506 994 3 12623713 12623713 C G exonic MKRN2 NA synonymous SNV MKRN2:NM_001271707:exon7:c.C1083G:p.L361L,MKRN2:NM_014160:exon8:c.C1212G:p.L404L exonic ENSG00000075975 NA synonymous SNV ENSG00000075975:ENST00000411987:exon7:c.C1083G:p.L361L,ENSG00000075975:ENST00000170447:exon8:c.C1212G:p.L404L,ENSG00000075975:ENST00000448482:exon8:c.C1206G:p.L402L Score=506;Name=lod=152 NA 3p25.2 NA NA NA NA rs188762040 0.0005 0.0005 NA 0.000399361 0.001 NA 0.0014 NA NA NA NA 0.0028 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 1.078475 NA NA 0.000465 0.000227 NA NA NA 6.6637016 994 4 148549569 148549569 C T exonic TMEM184C NA synonymous SNV TMEM184C:NM_018241:exon5:c.C555T:p.F185F exonic ENSG00000164168 NA synonymous SNV ENSG00000164168:ENST00000296582:exon5:c.C555T:p.F185F,ENSG00000164168:ENST00000508208:exon5:c.C555T:p.F185F Score=540;Name=lod=209 NA 4q31.23 NA NA NA NA rs148299197 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0013 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 1.022944 NA NA 0.00186 0.000681 NA NA NA 6.6635066 994 7 31013743 31013743 C T exonic GHRHR NA synonymous SNV GHRHR:NM_000823:exon7:c.C741T:p.L247L exonic ENSG00000106128 NA synonymous SNV ENSG00000106128:ENST00000409904:exon4:c.C549T:p.L183L,ENSG00000106128:ENST00000326139:exon7:c.C741T:p.L247L Score=505;Name=lod=151 NA 7p14.3 NA NA NA NA rs151019928 0.0041 0.0041 NA 0.00359425 NA NA 0.0058 0.0098 0.001 NA NA 0.01 0.01 0.002 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 -0.312909 NA NA 0.001163 0.01271 NA NA NA 6.6635036 994 16 69419394 69419394 G A intronic TERF2 NA NA NA exonic ENSG00000132604 NA synonymous SNV ENSG00000132604:ENST00000566750:exon1:c.C12T:p.L4L Score=491;Name=lod=132 NA 16q22.1 Score=769;Name=V$AHR_01 NA NA NA rs34415214 0.04 0.04 0.022 0.0397364 0.0547 0.0258 0.0533 0.0015 0.0808 0.06 0.03 0.06 0.01 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 2.111384 2.111384 NA 0.062442 0.013421 NA 0.08 NA 6.6633913 994 16 1259337 1259337 C T exonic CACNA1H NA synonymous SNV CACNA1H:NM_001005407:exon17:c.C3669T:p.A1223A,CACNA1H:NM_021098:exon17:c.C3669T:p.A1223A exonic ENSG00000196557 NA synonymous SNV ENSG00000196557:ENST00000565831:exon16:c.C3669T:p.A1223A,ENSG00000196557:ENST00000348261:exon17:c.C3669T:p.A1223A,ENSG00000196557:ENST00000358590:exon17:c.C3669T:p.A1223A Score=432;Name=lod=76 NA 16p13.3 NA NA NA NA rs59954346 0.0009 0.0009 NA 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0012 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 0.02979 NA NA 0.001334 0 NA NA NA 6.6631326 994 17 79637367 79637367 C G exonic CCDC137 NA nonsynonymous SNV CCDC137:NM_199287:exon3:c.C381G:p.H127Q exonic ENSG00000185298 NA nonsynonymous SNV ENSG00000185298:ENST00000329214:exon3:c.C381G:p.H127Q,ENSG00000185298:ENST00000575223:exon3:c.C381G:p.H127Q,ENSG00000185298:ENST00000574107:exon4:c.C408G:p.H136Q NA NA 17q25.3 NA NA NA NA rs7226091 0.25 0.25 0.265 0.239217 0.2515 0.2252 0.1484 0.3472 0.1595 0.23 0.22 0.16 0.38 0.2046 0.4 0.56 T 0.0 B 0.0 B 0.024 N 1.000 P -0.895 N 2.38 T -0.925 T 0.000 T 0.192 -1.649 0.012 0.343 0.022 -0.066 2.980 -1.64877 NA 0.64 0.214389 0.335965 ID=COSM437790;OCCURENCE=1(breast) 0.355 NA 6.6628444 994 7 158540921 158540921 G A exonic ESYT2 NA synonymous SNV ESYT2:NM_020728:exon15:c.C1689T:p.F563F exonic ENSG00000117868 NA synonymous SNV ENSG00000117868:ENST00000251527:exon15:c.C1689T:p.F563F,ENSG00000117868:ENST00000275418:exon16:c.C1662T:p.F554F Score=616;Name=lod=424 NA 7q36.3 NA NA NA NA rs148822238 0.0005 0.0005 NA 0.000399361 0.002 NA NA NA NA 0.0013 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 1.140978 NA NA 0.001163 0.000227 NA NA NA 6.6628036 994 6 25777185 25777185 T G exonic SLC17A4 NA synonymous SNV SLC17A4:NM_005495:exon10:c.T1266G:p.P422P exonic ENSG00000146039 NA synonymous SNV ENSG00000146039:ENST00000397076:exon5:c.T660G:p.P220P,ENSG00000146039:ENST00000439485:exon5:c.T576G:p.P192P,ENSG00000146039:ENST00000377905:exon10:c.T1266G:p.P422P Score=443;Name=lod=84 NA 6p22.2 NA NA NA NA rs41271825 0.0009 0.0009 0.002 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0006 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 1.56991 1.56991 NA 0.001512 0 NA NA NA 6.6625546 994 10 69926097 69926097 T C exonic MYPN NA synonymous SNV MYPN:NM_032578:exon10:c.T1647C:p.S549S,MYPN:NM_001256267:exon11:c.T1647C:p.S549S,MYPN:NM_001256268:exon14:c.T765C:p.S255S exonic ENSG00000138347 NA synonymous SNV ENSG00000138347:ENST00000354393:exon10:c.T822C:p.S274S,ENSG00000138347:ENST00000358913:exon10:c.T1647C:p.S549S,ENSG00000138347:ENST00000540630:exon10:c.T1647C:p.S549S Score=304;Name=lod=23 NA 10q21.3 NA NA Name=6 NA rs2673794 0.5 0.5 0.471 0.482628 0.6859 0.3125 0.6844 0.2769 0.5838 0.7 0.33 0.64 0.28 0.6227 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 0.216293 NA NA 0.696047 0.349523 NA 0.486 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000024488.2;CLNDSDB=.;CLNDSDBID=. 6.6620196 994 21 31973516 31973516 T A exonic KRTAP22-1 NA nonsynonymous SNV KRTAP22-1:NM_181620:exon1:c.T77A:p.L26H exonic ENSG00000186924 NA nonsynonymous SNV ENSG00000186924:ENST00000334680:exon1:c.T77A:p.L26H NA NA 21q22.11 NA NA NA NA rs198915 0.82 0.82 0.799 0.839856 0.8807 0.6022 0.9496 0.8722 0.9213 0.87 0.6 0.96 0.88 0.8862 0.96 0 D 0.0 B 0.0 B 0.537 N 1.000 P . . 2.87 T -1.065 T 0.000 T 0.075 0.133 4.715 -0.461 -0.201 -1.110 5.758 0.132898 NA NA 0.904535 0.861552 ID=COSM149218;OCCURENCE=1(stomach) 0.826 NA 6.6618984 994 11 71155171 71155171 C T exonic DHCR7 NA synonymous SNV DHCR7:NM_001163817:exon4:c.G189A:p.Q63Q,DHCR7:NM_001360:exon4:c.G189A:p.Q63Q exonic ENSG00000172893 NA synonymous SNV ENSG00000172893:ENST00000526780:exon3:c.G189A:p.Q63Q,ENSG00000172893:ENST00000355527:exon4:c.G189A:p.Q63Q,ENSG00000172893:ENST00000407721:exon4:c.G189A:p.Q63Q,ENSG00000172893:ENST00000525346:exon4:c.G189A:p.Q63Q,ENSG00000172893:ENST00000527452:exon4:c.G189A:p.Q63Q,ENSG00000172893:ENST00000529990:exon4:c.G129A:p.Q43Q,ENSG00000172893:ENST00000531364:exon4:c.G189A:p.Q63Q Score=463;Name=lod=102 NA 11q13.4 Score=910;Name=V$E47_02 NA NA NA rs1044482 0.51 0.51 0.533 0.400958 0.6978 0.3591 0.5403 0.323 0.1452 0.7 0.41 0.52 0.31 0.5718 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.929052 NA NA 0.7355 0.415 NA 0.565 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079647.1;CLNDSDB=.;CLNDSDBID=. 6.6615666 994 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 994 12 71950456 71950456 C T exonic LGR5 NA synonymous SNV LGR5:NM_001277227:exon5:c.C486T:p.H162H,LGR5:NM_001277226:exon6:c.C702T:p.H234H,LGR5:NM_003667:exon6:c.C702T:p.H234H exonic ENSG00000139292 NA synonymous SNV ENSG00000139292:ENST00000536515:exon5:c.C486T:p.H162H,ENSG00000139292:ENST00000266674:exon6:c.C702T:p.H234H,ENSG00000139292:ENST00000540815:exon6:c.C702T:p.H234H Score=696;Name=lod=898 NA 12q21.1 NA NA NA NA rs140637499 0.0009 0.0009 0.002 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0011 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 0.635401 NA NA 0.002209 0.000454 NA NA NA 6.6613576 994 1 28944528 28944528 C T exonic TAF12 NA synonymous SNV TAF12:NM_001135218:exon3:c.G183A:p.K61K,TAF12:NM_005644:exon3:c.G183A:p.K61K exonic ENSG00000120656 NA synonymous SNV ENSG00000120656:ENST00000263974:exon3:c.G183A:p.K61K,ENSG00000120656:ENST00000373824:exon3:c.G183A:p.K61K Score=637;Name=lod=517 NA 1p35.3 NA NA NA NA rs147570760 0.0014 0.0014 NA 0.000599042 0.002 NA NA 0.0008 NA 0.0026 NA NA 0.002 0.0014 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 1.137855 NA NA 0.001977 0.000908 NA NA NA 6.6612896 994 16 30081367 30081367 G T intronic ALDOA NA NA NA exonic ENSG00000149925 NA nonsynonymous SNV ENSG00000149925:ENST00000569798:exon8:c.G1016T:p.R339M NA NA 16p11.2 NA Name=Pol2 Name=22 NA rs2071390 0.22 0.22 0.195 0.192093 0.1561 0.4603 0.2205 0.0136 0.1738 0.16 0.5 0.2 0.02 0.1938 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387318 NA NA 0.15577 0.047587 NA 0.072 NA 6.6609967 994 22 31042616 31042616 G A exonic SLC35E4 NA synonymous SNV SLC35E4:NM_001001479:exon2:c.G651A:p.A217A exonic ENSG00000100036 NA synonymous SNV ENSG00000100036:ENST00000343605:exon2:c.G651A:p.A217A Score=603;Name=lod=376 NA 22q12.2 NA NA NA NA rs148808100 0.0014 0.0014 NA 0.000998403 0.001 NA 0.0043 0.0008 NA 0.0013 NA 0.01 NA 0.002 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 0.187544 NA NA 0.00314 0.000681 NA NA NA 6.6605266 994 14 77928525 77928525 A G exonic AHSA1 NA synonymous SNV AHSA1:NM_012111:exon3:c.A294G:p.Q98Q exonic ENSG00000100591 NA synonymous SNV ENSG00000100591:ENST00000216479:exon3:c.A294G:p.Q98Q,ENSG00000100591:ENST00000535854:exon3:c.A294G:p.Q98Q Score=619;Name=lod=438 NA 14q24.3 NA NA NA NA rs1061638 0.66 0.66 0.642 0.623802 0.666 0.9196 0.6153 0.3782 0.6135 0.68 0.92 0.57 0.37 0.6569 0.92 . . . . . . . . 0.000 P . . . . -1.046 T 0.000 T . 0.751 7.979 2.2 0.287 0.810 8.418 0.750765 NA NA 0.683372 0.430549 NA 0.616 NA 6.6603946 994 6 152466674 152466674 T C exonic SYNE1 NA synonymous SNV SYNE1:NM_033071:exon137:c.A24780G:p.E8260E exonic ENSG00000131018 NA synonymous SNV ENSG00000131018:ENST00000354674:exon9:c.A1458G:p.E486E,ENSG00000131018:ENST00000367251:exon23:c.A3759G:p.E1253E,ENSG00000131018:ENST00000423061:exon137:c.A24780G:p.E8260E,ENSG00000131018:ENST00000448038:exon138:c.A24780G:p.E8260E Score=378;Name=lod=46 NA 6q25.1 NA NA NA NA rs2747662 0.34 0.34 0.305 0.366214 0.331 0.2976 0.5058 0.3389 0.411 0.31 0.28 0.52 0.32 0.3452 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.104907 NA NA 0.330116 0.347254 NA 0.232 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118469.1;CLNDSDB=.;CLNDSDBID=. 6.6603506 994 5 140307746 140307746 C G exonic PCDHAC1 NA synonymous SNV PCDHAC1:NM_018898:exon1:c.C1269G:p.P423P,PCDHAC1:NM_031882:exon1:c.C1269G:p.P423P exonic ENSG00000248383 NA synonymous SNV ENSG00000248383:ENST00000253807:exon1:c.C1269G:p.P423P,ENSG00000248383:ENST00000409700:exon1:c.C1269G:p.P423P Score=340;Name=lod=32 NA 5q31.3 NA NA Name=3 NA rs155820 0.34 0.34 0.269 0.35603 0.333 0.5476 0.3948 0.23 0.3252 0.32 0.51 0.31 0.18 0.3457 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189298 NA NA 0.327674 0.254199 NA 0.283 NA 6.6602926 994 1 17555508 17555508 G T exonic PADI1 NA synonymous SNV PADI1:NM_013358:exon8:c.G891T:p.T297T exonic ENSG00000142623 NA synonymous SNV ENSG00000142623:ENST00000375471:exon8:c.G891T:p.T297T Score=544;Name=lod=217 NA 1p36.13 Score=862;Name=V$FAC1_01 NA NA NA rs2977234 0.21 0.21 0.233 0.214457 0.3539 0.0585 0.1902 0.1831 0.2914 0.34 0.05 0.2 0.22 0.3318 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.700381 NA NA 0.321047 0.209128 ID=COSM424650;OCCURENCE=1(breast) 0.181 NA 6.6599196 994 19 55143036 55143036 C G exonic LILRB1 NA synonymous SNV LILRB1:NM_001081637:exon4:c.C156G:p.G52G,LILRB1:NM_001081638:exon4:c.C156G:p.G52G,LILRB1:NM_001081639:exon4:c.C156G:p.G52G,LILRB1:NM_006669:exon5:c.C156G:p.G52G exonic ENSG00000104972 NA synonymous SNV ENSG00000104972:ENST00000396315:exon3:c.C156G:p.G52G,ENSG00000104972:ENST00000396317:exon3:c.C156G:p.G52G,ENSG00000104972:ENST00000396321:exon3:c.C156G:p.G52G,ENSG00000104972:ENST00000418536:exon3:c.C156G:p.G52G,ENSG00000104972:ENST00000421584:exon3:c.C156G:p.G52G,ENSG00000104972:ENST00000427581:exon3:c.C264G:p.G88G,ENSG00000104972:ENST00000448689:exon3:c.C156G:p.G52G,ENSG00000104972:ENST00000324602:exon4:c.C156G:p.G52G,ENSG00000104972:ENST00000396327:exon4:c.C156G:p.G52G,ENSG00000104972:ENST00000396332:exon4:c.C156G:p.G52G,ENSG00000104972:ENST00000434867:exon4:c.C156G:p.G52G,ENSG00000104972:ENST00000396331:exon5:c.C156G:p.G52G NA NA 19q13.42 Score=859;Name=V$MZF1_02 NA NA NA rs200861496 0 0 NA 0.000399361 0.002 NA NA NA NA NA NA NA NA 0.0021 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 -0.35463 NA NA 0.002907 0.001135 NA NA NA 6.6596596 994 1 28833839 28833839 C A ncRNA_intronic SNHG3 NA NA NA ncRNA_exonic ENSG00000242125 NA NA NA NA NA 1p35.3 NA Name=Pol2-4H8,Pol2(b),TAF1,HEY1,c-Myc,Pol2,Pol2(phosphoS2),TAF7_(SQ-8) Name=83 NA rs188916501 0.0009 0.0009 NA 0.000798722 0.003 NA NA 0.0008 NA 0.0026 NA NA 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 -0.266509 NA NA 0.002762 0.000571 NA NA NA 6.6596046 994 10 50966447 50966447 C T exonic OGDHL NA synonymous SNV OGDHL:NM_001143996:exon2:c.G192A:p.Q64Q,OGDHL:NM_018245:exon2:c.G192A:p.Q64Q exonic ENSG00000197444 NA synonymous SNV ENSG00000197444:ENST00000374103:exon2:c.G192A:p.Q64Q,ENSG00000197444:ENST00000419399:exon2:c.G192A:p.Q64Q Score=589;Name=lod=330 NA 10q11.23 NA NA NA NA rs145621276 0.0009 0.0009 NA 0.000599042 0.002 NA NA 0.0008 NA 0.0013 NA NA 0.002 0.0018 0.0034 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.900054 NA NA 0.003372 0.000454 NA NA NA 6.6594946 994 1 28833838 28833838 T A ncRNA_intronic SNHG3 NA NA NA ncRNA_exonic ENSG00000242125 NA NA NA NA NA 1p35.3 NA Name=TAF7_(SQ-8),Pol2,Pol2(phosphoS2),c-Myc,HEY1,TAF1,Pol2(b),Pol2-4H8 Name=83 NA rs183910322 0.0009 0.0009 NA 0.000798722 0.003 NA NA 0.0008 NA 0.0026 NA NA NA 0.0013 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 -0.334353 NA NA 0.003014 0.000571 NA NA NA 6.6593526 994 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 994 3 128205860 128205860 G C exonic GATA2 NA synonymous SNV GATA2:NM_001145662:exon2:c.C15G:p.P5P,GATA2:NM_032638:exon2:c.C15G:p.P5P,GATA2:NM_001145661:exon3:c.C15G:p.P5P exonic ENSG00000179348 NA synonymous SNV ENSG00000179348:ENST00000341105:exon2:c.C15G:p.P5P,ENSG00000179348:ENST00000430265:exon2:c.C15G:p.P5P,ENSG00000179348:ENST00000492608:exon2:c.C15G:p.P5P,ENSG00000179348:ENST00000487848:exon3:c.C15G:p.P5P,ENSG00000179348:ENST00000498200:exon3:c.C15G:p.P5P NA NA 3q21.3 Score=828;Name=V$PAX4_01 Name=CTCF,SUZ12 Name=74 NA rs1573858 0.69 0.69 0.622 0.709864 0.664 0.6944 0.7046 0.8222 0.6247 0.64 0.66 0.7 0.78 0.6943 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 1.482132 1.482132 NA 0.650816 0.776068 NA 0.529 NA 6.6575506 994 11 379948 379948 C T exonic B4GALNT4 NA synonymous SNV B4GALNT4:NM_178537:exon16:c.C2571T:p.S857S exonic ENSG00000182272 NA synonymous SNV ENSG00000182272:ENST00000329962:exon16:c.C2571T:p.S857S Score=581;Name=lod=307 NA 11p15.5 NA NA NA NA rs142922840 0.0014 0.0014 0.003 0.00119808 0.004 NA 0.0029 NA NA 0.004 NA NA 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 1.167307 NA NA 0.003141 0 NA NA NA 6.6570256 994 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 994 16 57957194 57957194 G A exonic CNGB1 NA synonymous SNV CNGB1:NM_001297:exon18:c.C1626T:p.T542T exonic ENSG00000070729 NA synonymous SNV ENSG00000070729:ENST00000251102:exon18:c.C1626T:p.T542T,ENSG00000070729:ENST00000564448:exon18:c.C1608T:p.T536T NA NA 16q21 Score=949;Name=V$ZIC2_01 NA NA NA rs148735841 0.0018 0.0018 0.002 0.00119808 0.002 NA NA NA 0.0041 0.01 NA NA NA 0.0034 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.878673 NA NA 0.004352 0.000773 NA NA NA 6.6569146 994 1 49201984 49201984 G A exonic BEND5 NA synonymous SNV BEND5:NM_024603:exon5:c.C1035T:p.G345G exonic ENSG00000162373 NA synonymous SNV ENSG00000162373:ENST00000371833:exon5:c.C1035T:p.G345G Score=688;Name=lod=835 NA 1p33 NA NA NA NA rs114450193 0.0014 0.0014 0.002 0.00139776 0.003 0.001 0.0043 NA NA 0.0013 NA 0.01 NA 0.0022 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.123217 NA NA 0.005 0.000908 ID=COSM1343239,COSM1343240;OCCURENCE=1(large_intestine) NA NA 6.6564666 994 4 7062895 7062895 G A exonic GRPEL1 NA synonymous SNV GRPEL1:NM_025196:exon4:c.C348T:p.D116D exonic ENSG00000109519 NA synonymous SNV ENSG00000109519:ENST00000264954:exon4:c.C348T:p.D116D Score=369;Name=lod=42 NA 4p16.1 NA NA NA NA rs141369619 0.0023 0.0023 0.002 0.00139776 0.003 NA 0.0058 NA NA 0.004 NA 0.01 NA 0.0036 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172596 NA NA 0.003837 0.000908 NA NA NA 6.6562296 994 17 76557994 76557994 T C exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon12:c.A1638G:p.S546S exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon12:c.A1638G:p.S546S,ENSG00000187775:ENST00000585328:exon12:c.A1638G:p.S546S NA NA 17q25.3 Score=772;Name=V$PAX6_01 NA NA NA rs139704186 0.0014 0.0014 0.001 0.000599042 0.002 NA NA 0.0008 NA 0.0026 NA NA 0.002 0.0034 0.0055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.000386 NA NA 0.005465 0.000454 NA NA NA 6.6558016 994 3 126708453 126708453 T C exonic PLXNA1 NA synonymous SNV PLXNA1:NM_032242:exon1:c.T1017C:p.T339T exonic ENSG00000114554 NA synonymous SNV ENSG00000114554:ENST00000251772:exon1:c.T948C:p.T316T,ENSG00000114554:ENST00000393409:exon1:c.T1017C:p.T339T NA NA 3q21.3 Score=857;Name=V$FOXO1_02 Name=GR NA NA rs6773789 0.44 0.44 0.453 0.472843 0.339 0.4236 0.353 0.7088 0.4274 0.33 0.42 0.33 0.71 0.3556 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.3336 NA NA 0.316512 0.649115 ID=COSM445515;OCCURENCE=1(breast) 0.536 NA 6.6555546 994 X 144905816 144905816 T C exonic SLITRK2 NA synonymous SNV SLITRK2:NM_001144009:exon2:c.T1873C:p.L625L,SLITRK2:NM_001144006:exon3:c.T1873C:p.L625L,SLITRK2:NM_001144008:exon3:c.T1873C:p.L625L,SLITRK2:NM_001144010:exon3:c.T1873C:p.L625L,SLITRK2:NM_001144003:exon5:c.T1873C:p.L625L,SLITRK2:NM_001144004:exon5:c.T1873C:p.L625L,SLITRK2:NM_001144005:exon5:c.T1873C:p.L625L,SLITRK2:NM_032539:exon5:c.T1873C:p.L625L exonic ENSG00000185985 NA synonymous SNV ENSG00000185985:ENST00000370490:exon1:c.T1873C:p.L625L,ENSG00000185985:ENST00000428560:exon2:c.T1873C:p.L625L,ENSG00000185985:ENST00000447897:exon2:c.T1873C:p.L625L,ENSG00000185985:ENST00000413937:exon3:c.T1873C:p.L625L,ENSG00000185985:ENST00000434188:exon3:c.T1873C:p.L625L,ENSG00000185985:ENST00000335565:exon5:c.T1873C:p.L625L Score=449;Name=lod=89 NA Xq27.3 NA NA NA NA rs138169257 0.0012 0.0012 NA NA NA NA NA NA NA 0.0034 NA NA NA 0.0037 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 0.463738 NA NA 0.007729 0.000782 NA 0.007 NA 6.6552376 994 4 5750003 5750003 A G exonic EVC NA synonymous SNV EVC:NM_153717:exon8:c.A1068G:p.L356L exonic ENSG00000072840 NA synonymous SNV ENSG00000072840:ENST00000264956:exon8:c.A1068G:p.L356L,ENSG00000072840:ENST00000382674:exon8:c.A1068G:p.L356L,ENSG00000072840:ENST00000509451:exon8:c.A1068G:p.L356L NA NA 4p16.2 NA Name=c-Jun Name=109 NA rs33929747 0.24 0.24 0.216 0.217452 0.3608 0.2044 0.3444 0.0628 0.2025 0.36 0.16 0.35 0.07 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 0.344126 NA NA 0.358256 0.108942 NA 0.246 NA 6.6551106 995 22 37581271 37581271 G A exonic C1QTNF6 NA synonymous SNV C1QTNF6:NM_031910:exon2:c.C276T:p.I92I,C1QTNF6:NM_182486:exon2:c.C276T:p.I92I exonic ENSG00000133466 NA synonymous SNV ENSG00000133466:ENST00000337843:exon2:c.C276T:p.I92I,ENSG00000133466:ENST00000397110:exon2:c.C276T:p.I92I,ENSG00000133466:ENST00000434784:exon2:c.C276T:p.I92I Score=537;Name=lod=203 NA 22q12.3 NA NA NA NA rs77643619 0.0014 0.0014 0.001 0.00139776 0.005 NA 0.0029 NA NA 0.0026 NA 0.0028 NA 0.0026 0.0042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003663 NA NA 0.004186 0.000454 NA NA NA 6.6548806 995 1 27432505 27432505 G A exonic SLC9A1 NA synonymous SNV SLC9A1:NM_003047:exon5:c.C1356T:p.I452I exonic ENSG00000090020 NA synonymous SNV ENSG00000090020:ENST00000545949:exon4:c.C339T:p.I113I,ENSG00000090020:ENST00000263980:exon5:c.C1356T:p.I452I,ENSG00000090020:ENST00000374086:exon5:c.C1356T:p.I452I NA NA 1p36.11 Score=801;Name=V$HNF1_01 NA NA NA rs35607809 0.0018 0.0018 NA 0.00119808 0.004 NA 0.0014 0.0008 NA 0.004 NA NA 0.002 0.0027 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 0.96963 NA NA 0.005233 0.000908 NA NA NA 6.6547336 995 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$ER_Q6 NA NA NA rs1042144 0.36 0.36 0.333 0.352436 0.3499 0.5496 0.2046 0.2716 0.3661 0.35 0.53 0.22 0.27 0.3339 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.4215 1.4215 NA 0.32814 0.278938 NA NA NA 6.6547266 995 11 57982579 57982579 C T exonic OR1S1 NA synonymous SNV OR1S1:NM_001004458:exon1:c.C363T:p.V121V exonic ENSG00000172774 NA synonymous SNV ENSG00000172774:ENST00000309433:exon1:c.C363T:p.V121V NA NA 11q12.1 Score=913;Name=V$FOXJ2_01 NA NA NA rs143223688 0.0027 0.0027 NA 0.00159744 0.004 NA 0.0058 NA NA 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 -1.01992 NA NA 0.005354 0.002045 NA NA NA 6.6544126 995 12 89916968 89916968 G A exonic GALNT4,POC1B-GALNT4 NA synonymous SNV GALNT4:NM_003774:exon1:c.C1359T:p.I453I,POC1B-GALNT4:NM_001199781:exon3:c.C1350T:p.I450I,POC1B-GALNT4:NM_001199782:exon3:c.C843T:p.I281I exonic ENSG00000257594,ENSG00000259075 NA synonymous SNV ENSG00000257594:ENST00000529983:exon1:c.C1359T:p.I453I,ENSG00000259075:ENST00000413530:exon3:c.C843T:p.I281I,ENSG00000259075:ENST00000548729:exon3:c.C1350T:p.I450I Score=366;Name=lod=41 NA 12q21.33 NA NA NA NA rs187767855 0.0023 0.0023 NA 0.00199681 0.006 NA 0.0058 NA NA 0.0026 NA 0.01 NA 0.0023 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 -0.019621 NA NA 0.00402 0.000536 NA NA NA 6.6543466 995 1 247006051 247006051 G C exonic AHCTF1 NA nonsynonymous SNV AHCTF1:NM_015446:exon35:c.C6580G:p.L2194V exonic ENSG00000153207 NA nonsynonymous SNV ENSG00000153207:ENST00000326225:exon35:c.C6580G:p.L2194V,ENSG00000153207:ENST00000366508:exon35:c.C6658G:p.L2220V,ENSG00000153207:ENST00000391829:exon35:c.C6553G:p.L2185V NA NA 1q44 NA NA NA NA rs12410563 0.23 0.23 0.19 0.215455 0.2197 0.1706 0.3357 0.2201 0.1656 0.22 0.2 0.33 0.22 0.2445 0.33 0.61 T 0.0 B 0.0 B 0.456 N 1.000 P -1.935 N 1.94 T -0.928 T 0.000 T 0.044 -2.75 0 -0.129 -0.188 -0.286 5.997 -2.750109 NA 0.09 0.214884 0.208352 NA 0.275 NA 6.6542494 995 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=TAL1_(SC-12984),CEBPB 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 995 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 995 12 97098549 97098549 T C intergenic CDK17,NEDD1 dist=304183;dist=202452 NA NA exonic ENSG00000270032 NA nonsynonymous SNV ENSG00000270032:ENST00000524981:exon14:c.T1856C:p.L619P Score=371;Name=lod=43 NA 12q23.1 NA NA NA NA rs11108643 0.84 0.84 0.837 0.820687 0.7286 0.9077 0.8386 0.9705 0.6104 0.72 0.91 0.83 0.97 0.7561 0.97 0.94 T 0.0 B 0.0 B 0.063 N 0.324 P . . . . -0.950 T 0.000 T 0.196 -1.271 0.045 4.88 1.286 0.906 9.265 -1.270654 NA 1 0.694752 0.920569 NA 0.732 NA 6.6538814 995 22 26695077 26695077 G T exonic SEZ6L NA nonsynonymous SNV SEZ6L:NM_001184773:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184774:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184775:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184776:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184777:exon5:c.G1290T:p.M430I,SEZ6L:NM_021115:exon5:c.G1290T:p.M430I exonic ENSG00000100095 NA nonsynonymous SNV ENSG00000100095:ENST00000402979:exon4:c.G609T:p.M203I,ENSG00000100095:ENST00000403121:exon4:c.G609T:p.M203I,ENSG00000100095:ENST00000248933:exon5:c.G1290T:p.M430I,ENSG00000100095:ENST00000343706:exon5:c.G1290T:p.M430I,ENSG00000100095:ENST00000360929:exon5:c.G1290T:p.M430I,ENSG00000100095:ENST00000404234:exon5:c.G1290T:p.M430I,ENSG00000100095:ENST00000529632:exon5:c.G1290T:p.M430I NA NA 22q12.1 NA NA NA NA rs663048 0.21 0.21 0.203 0.187899 0.2376 0.0704 0.1484 0.3472 0.0706 0.25 0.06 0.17 0.33 0.2093 0.33 0.34 T 0.06 B 0.05 B 0.069 N 0.000 P -1.24 N -0.02 T -0.972 T 0.000 T 0.085 0.394 6.142 0.149 -0.041 0.352 4.519 0.394361 NA 0.45 0.232791 0.314798 NA 0.167 NA 6.6536424 995 10 105154089 105154089 A G ncRNA_exonic MIR1307 NA NA NA ncRNA_exonic ENSG00000221767 NA NA NA Score=381;Name=lod=47 NA 10q24.33 NA Name=MafK_(ab50322),Pol2-4H8,GATA-1,eGFP-JunD,Sin3Ak-20,CEBPB Name=22 NA rs7911488 0.27 0.27 0.246 0.303714 0.3479 0.3433 0.317 0.053 0.547 0.35 0.33 0.29 0.05 0.3384 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.017935 2.017935 NA 0.326773 0.091518 NA 0.196 NA 6.6535936 995 2 75104329 75104329 G A exonic HK2 NA synonymous SNV HK2:NM_000189:exon8:c.G912A:p.E304E exonic ENSG00000159399 NA synonymous SNV ENSG00000159399:ENST00000290573:exon8:c.G912A:p.E304E,ENSG00000159399:ENST00000409174:exon8:c.G828A:p.E276E Score=652;Name=lod=595 NA 2p12 NA NA NA NA rs28363014 0.0027 0.0027 0.002 0.00139776 0.006 NA NA 0.0008 NA 0.01 NA NA NA 0.0026 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 1.085874 NA NA 0.004884 0.001135 NA 0.007 NA 6.6531826 995 10 14909255 14909255 T C exonic HSPA14 NA synonymous SNV HSPA14:NM_016299:exon11:c.T1167C:p.S389S exonic ENSG00000187522 NA synonymous SNV ENSG00000187522:ENST00000378372:exon11:c.T1167C:p.S389S Score=251;Name=lod=14 NA 10p13 NA NA NA NA rs61751214 0.0018 0.0018 NA 0.00359425 0.005 NA 0.0072 0.0008 0.0072 0.0013 NA 0.01 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 0.075422 NA NA 0.004302 0.000908 NA NA NA 6.6531646 995 11 55339829 55339829 A G exonic OR4C16 NA nonsynonymous SNV OR4C16:NM_001004701:exon1:c.A226G:p.T76A exonic ENSG00000181935 NA nonsynonymous SNV ENSG00000181935:ENST00000314634:exon1:c.A226G:p.T76A NA NA 11q11 NA NA NA NA rs557590 0.89 0.89 0.876 0.891374 0.8917 1 0.9294 0.7171 0.9877 0.89 1 0.93 0.71 0.9019 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.39 N 4.1 T -0.968 T 0.000 T 0.055 -1.685 0.012 3.07 0.715 -3.439 7.218 -1.684535 NA 1 0.886872 0.738982 NA 0.906 NA 6.6528614 995 7 2406051 2406051 C T exonic EIF3B NA synonymous SNV EIF3B:NM_001037283:exon7:c.C1257T:p.H419H,EIF3B:NM_003751:exon7:c.C1257T:p.H419H exonic ENSG00000106263 NA synonymous SNV ENSG00000106263:ENST00000360876:exon7:c.C1257T:p.H419H,ENSG00000106263:ENST00000397011:exon7:c.C1257T:p.H419H,ENSG00000106263:ENST00000431643:exon8:c.C441T:p.H147H Score=607;Name=lod=392 NA 7p22.3 NA NA NA NA rs144904326 0.0037 0.0037 0.005 0.00119808 0.004 NA 0.0029 NA NA 0.004 NA 0.01 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 1.014796 NA NA 0.005814 0.002724 NA NA NA 6.6523526 995 6 152683413 152683413 G T exonic SYNE1 NA synonymous SNV SYNE1:NM_033071:exon64:c.C10212A:p.G3404G,SYNE1:NM_182961:exon64:c.C10191A:p.G3397G exonic ENSG00000131018 NA synonymous SNV ENSG00000131018:ENST00000265368:exon64:c.C10191A:p.G3397G,ENSG00000131018:ENST00000367255:exon64:c.C10191A:p.G3397G,ENSG00000131018:ENST00000423061:exon64:c.C10212A:p.G3404G,ENSG00000131018:ENST00000448038:exon65:c.C10212A:p.G3404G Score=423;Name=lod=70 NA 6q25.2 NA NA Name=2 NA rs4407724 0.69 0.69 0.667 0.659145 0.6799 0.7927 0.6859 0.5764 0.593 0.68 0.79 0.69 0.6 0.6541 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 -0.650287 NA NA 0.680581 0.584657 NA 0.739 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118428.2;CLNDSDB=.;CLNDSDBID=. 6.6520856 995 6 127771452 127771452 T G exonic KIAA0408 NA nonsynonymous SNV KIAA0408:NM_014702:exon3:c.A181C:p.S61R exonic ENSG00000189367 NA nonsynonymous SNV ENSG00000189367:ENST00000483725:exon3:c.A181C:p.S61R,ENSG00000189367:ENST00000487331:exon4:c.A217C:p.S73R NA NA 6q22.33 Score=793;Name=V$OCT1_04 NA NA NA rs3734447 0.41 0.41 0.419 0.421326 0.5606 0.0714 0.4236 0.5802 0.4223 0.57 0.08 0.44 0.53 0.5216 0.6 0.81 T 0.0 B 0.0 B . . 1.000 P -1.7 N 1.03 T -0.988 T 0.006 T 0.404 -0.389 2.174 0.011 -0.150 0.931 1.024 -0.389154 NA 0.73 0.599767 0.58129 NA 0.529 NA 6.6513664 995 2 218712726 218712726 A G exonic TNS1 NA synonymous SNV TNS1:NM_022648:exon17:c.T2139C:p.N713N exonic ENSG00000079308 NA synonymous SNV ENSG00000079308:ENST00000419504:exon16:c.T2139C:p.N713N,ENSG00000079308:ENST00000430930:exon16:c.T2139C:p.N713N,ENSG00000079308:ENST00000171887:exon17:c.T2139C:p.N713N Score=493;Name=lod=134 NA 2q35 Score=849;Name=V$POU3F2_02 NA NA NA rs1364642 0.4 0.4 0.434 0.435703 0.3499 0.3452 0.3156 0.6225 0.4499 0.33 0.37 0.32 0.61 0.3518 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.380735 NA NA 0.313605 0.563096 NA 0.558 NA 6.6513616 995 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 995 14 64548193 64548193 T C exonic SYNE2 NA synonymous SNV SYNE2:NM_015180:exon57:c.T11379C:p.L3793L,SYNE2:NM_182914:exon57:c.T11379C:p.L3793L exonic ENSG00000054654 NA synonymous SNV ENSG00000054654:ENST00000394768:exon4:c.T465C:p.L155L,ENSG00000054654:ENST00000555002:exon8:c.T1281C:p.L427L,ENSG00000054654:ENST00000344113:exon57:c.T11379C:p.L3793L,ENSG00000054654:ENST00000357395:exon57:c.T465C:p.L155L,ENSG00000054654:ENST00000358025:exon57:c.T11379C:p.L3793L,ENSG00000054654:ENST00000554584:exon57:c.T11478C:p.L3826L NA NA 14q23.2 NA Name=STAT3,MafK_(ab50322) NA NA rs149391344 0.0027 0.0027 0.004 0.00199681 0.0089 NA NA NA 0.001 0.01 NA NA NA 0.0037 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 -0.803677 NA NA 0.003721 0.001362 NA 0.007 NA 6.6503456 995 19 2078488 2078488 T C exonic MOB3A NA synonymous SNV MOB3A:NM_130807:exon3:c.A72G:p.P24P exonic ENSG00000172081 NA synonymous SNV ENSG00000172081:ENST00000592280:exon1:c.A72G:p.P24P,ENSG00000172081:ENST00000591638:exon2:c.A72G:p.P24P,ENSG00000172081:ENST00000357066:exon3:c.A72G:p.P24P,ENSG00000172081:ENST00000586676:exon3:c.A72G:p.P24P,ENSG00000172081:ENST00000589902:exon3:c.A72G:p.P24P,ENSG00000172081:ENST00000591236:exon3:c.A72G:p.P24P,ENSG00000172081:ENST00000591326:exon3:c.A72G:p.P24P NA NA 19p13.3 Score=778;Name=V$AHRARNT_02 NA NA Score=116;Name=1112098_0_-_116 rs2074894 0.37 0.37 0.36 0.39397 0.329 0.1835 0.2507 0.6528 0.4294 0.33 0.21 0.29 0.67 0.3465 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.09172 NA NA 0.34093 0.633908 ID=COSM1564603;OCCURENCE=1(large_intestine) 0.37 NA 6.6502366 995 16 427479 427479 T C exonic TMEM8A NA nonsynonymous SNV TMEM8A:NM_021259:exon3:c.A406G:p.T136A exonic ENSG00000129925 NA nonsynonymous SNV ENSG00000129925:ENST00000431232:exon3:c.A406G:p.T136A NA NA 16p13.3 NA NA NA NA rs11248931 0.5 0.5 0.508 0.534545 0.5408 0.3006 0.4755 0.6188 0.6973 0.54 0.28 0.5 0.68 0.5751 0.68 0.92 T 0.0 B 0.0 B 0.072 N 1.000 P -0.895 N 1.92 T -0.956 T 0.000 T 0.018 -2.441 0.003 0.981 -0.100 -1.411 4.588 -2.441316 NA NA 0.567373 0.623344 ID=COSM1377806;OCCURENCE=1(large_intestine) 0.471 NA 6.6500604 995 11 46760913 46760913 C T exonic F2 NA synonymous SNV F2:NM_000506:exon14:c.C1824T:p.R608R exonic ENSG00000180210 NA synonymous SNV ENSG00000180210:ENST00000311907:exon14:c.C1824T:p.R608R,ENSG00000180210:ENST00000530231:exon14:c.C1707T:p.R569R Score=603;Name=lod=377 NA 11p11.2 NA NA NA NA rs3136532 0.0018 0.0018 NA 0.00139776 0.006 NA NA 0.0008 NA 0.01 NA NA NA 0.0053 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.120101 NA NA 0.005815 0.001136 NA NA NA 6.6495516 995 16 30376486 30376486 T C exonic TBC1D10B NA synonymous SNV TBC1D10B:NM_015527:exon3:c.A1104G:p.K368K exonic ENSG00000169221 NA synonymous SNV ENSG00000169221:ENST00000490703:exon1:c.A48G:p.K16K,ENSG00000169221:ENST00000409939:exon3:c.A1104G:p.K368K Score=647;Name=lod=566 NA 16p11.2 Score=682;Name=V$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 995 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 995 14 96829290 96829290 G A exonic ATG2B NA synonymous SNV ATG2B:NM_018036:exon1:c.C24T:p.S8S exonic ENSG00000066739 NA synonymous SNV ENSG00000066739:ENST00000359933:exon1:c.C24T:p.S8S Score=672;Name=lod=718 NA 14q32.2 Score=794;Name=V$PBX1_02 NA Name=33 NA rs12434329 0.52 0.52 0.447 0.479433 0.6839 0.4276 0.6873 0.2595 0.4724 0.7 0.44 0.68 0.2 0.6202 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.981699 1.981699 NA 0.713932 0.37637 NA 0.478 NA 6.6486346 995 7 138740037 138740037 G C exonic ZC3HAV1 NA nonsynonymous SNV ZC3HAV1:NM_020119:exon10:c.C2101G:p.Q701E exonic ENSG00000105939 NA nonsynonymous SNV ENSG00000105939:ENST00000242351:exon10:c.C2101G:p.Q701E,ENSG00000105939:ENST00000464606:exon10:c.C2467G:p.Q823E NA NA 7q34 NA NA NA NA rs2297236 0.58 0.58 0.556 0.565096 0.5586 0.6776 0.5879 0.4629 0.5777 0.56 0.69 0.56 0.48 0.5597 0.69 0.63 T 0.056 B 0.024 B 0.398 N 1.000 P 2.14 M 3.3 T -1.009 T 0.000 T 0.029 1.153 9.696 1.78 0.508 0.699 6.474 1.153136 NA 1 0.566744 0.459374 ID=COSM1131699;OCCURENCE=1(prostate) 0.449 NA 6.6482894 995 11 67353970 67353970 T C exonic GSTP1 NA synonymous SNV GSTP1:NM_000852:exon7:c.T555C:p.S185S exonic ENSG00000084207 NA synonymous SNV ENSG00000084207:ENST00000398603:exon6:c.T447C:p.S149S,ENSG00000084207:ENST00000398606:exon7:c.T555C:p.S185S NA NA 11q13.2 Score=787;Name=V$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 995 11 7723002 7723002 A G exonic OVCH2 NA synonymous SNV OVCH2:NM_198185:exon6:c.T580C:p.L194L exonic ENSG00000183378 NA synonymous SNV ENSG00000183378:ENST00000454689:exon6:c.T580C:p.L194L Score=349;Name=lod=35 NA 11p15.4 NA NA NA NA rs117143114 0.0018 0.0018 0.001 0.00539137 0.004 NA 0.0029 NA 0.0215 0.004 NA 0.0028 NA 0.0092 0.0056 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443326 NA NA 0.00555 0.001284 NA NA NA 6.6479166 995 8 20110641 20110641 C T exonic LZTS1 NA synonymous SNV LZTS1:NM_021020:exon2:c.G801A:p.E267E exonic ENSG00000061337 NA synonymous SNV ENSG00000061337:ENST00000265801:exon2:c.G801A:p.E267E,ENSG00000061337:ENST00000522290:exon2:c.G801A:p.E267E,ENSG00000061337:ENST00000381569:exon3:c.G801A:p.E267E Score=524;Name=lod=179 NA 8p21.3 Score=851;Name=V$ZID_01 NA NA NA rs2645386 0.36 0.36 0.363 0.358626 0.3231 0.4623 0.2205 0.3843 0.3517 0.33 0.45 0.26 0.41 0.3499 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.720041 NA NA 0.345768 0.403182 NA 0.246 NA 6.6478986 995 17 79171966 79171966 C T exonic AZI1 NA synonymous SNV AZI1:NM_001009811:exon12:c.G1419A:p.V473V,AZI1:NM_014984:exon12:c.G1419A:p.V473V exonic ENSG00000141577 NA synonymous SNV ENSG00000141577:ENST00000269392:exon12:c.G1419A:p.V473V,ENSG00000141577:ENST00000374782:exon12:c.G1419A:p.V473V,ENSG00000141577:ENST00000450824:exon12:c.G1419A:p.V473V,ENSG00000141577:ENST00000575907:exon12:c.G1419A:p.V473V Score=340;Name=lod=32 NA 17q25.3 NA NA NA NA rs117891655 0.0041 0.0041 NA 0.00219649 0.007 NA 0.0058 NA NA 0.01 NA 0.01 NA 0.0078 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.423398 NA NA 0.004783 0.001148 NA NA NA 6.6470836 995 5 169021610 169021610 C T exonic SPDL1 NA synonymous SNV SPDL1:NM_017785:exon7:c.C816T:p.L272L exonic ENSG00000040275 NA synonymous SNV ENSG00000040275:ENST00000265295:exon7:c.C816T:p.L272L Score=608;Name=lod=396 NA 5q35.1 NA NA NA NA rs4493692 0.64 0.64 0.659 0.638778 0.673 0.7331 0.5879 0.5257 0.6953 0.69 0.72 0.59 0.53 0.6572 0.72 . . . . . . . . 0.000 P . . . . -0.983 T 0.000 T . -0.16 3.217 -2.19 -0.607 -0.103 4.624 -0.160356 NA NA 0.69 0.551521 NA 0.565 NA 6.6464666 995 10 73520632 73520632 A C exonic C10orf54 NA nonsynonymous SNV C10orf54:NM_022153:exon3:c.T561G:p.D187E exonic ENSG00000107738 NA nonsynonymous SNV ENSG00000107738:ENST00000394957:exon3:c.T561G:p.D187E Score=385;Name=lod=49 NA 10q22.1 Score=810;Name=V$IRF2_01 NA NA NA rs3747869 0.88 0.88 0.904 0.892772 0.9016 0.7827 0.7954 0.9849 0.9417 0.89 0.81 0.81 0.98 0.8865 0.98 0.95 T 0.0 B 0.001 B 0.155 N 0.000 P -0.37 N 1.03 T -0.972 T 0.000 T 0.029 0.445 6.415 1.04 0.303 -0.705 2.576 0.444663 NA 0.68 0.898837 0.969587 NA 0.891 NA 6.6463964 995 17 63822357 63822357 T C exonic CEP112 NA nonsynonymous SNV CEP112:NM_001037325:exon1:c.A61G:p.I21V exonic ENSG00000154240 NA nonsynonymous SNV ENSG00000154240:ENST00000317442:exon1:c.A61G:p.I21V NA NA 17q24.1 NA NA NA NA rs62065084 0.2 0.2 0.207 0.214457 0.2207 0.125 0.2262 0.2368 0.2618 0.21 0.13 0.24 0.23 0.2262 0.24 0.36 T 0.001 B 0.001 B . . 1.000 P . . . . -0.989 T 0.000 T 0.014 0.89 8.616 -0.831 -0.210 -0.252 4.325 0.890231 NA 0 0.240233 0.242624 NA 0.145 NA 6.6462004 995 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$FAC1_01 NA NA NA rs3748183 0.35 0.35 0.311 0.303315 0.3439 0.5962 0.2565 0.062 0.319 0.37 0.63 0.26 0.08 0.3498 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.161447 NA NA 0.326951 0.108662 NA 0.348 NA 6.6460156 995 9 116770785 116770785 G A exonic ZNF618 NA synonymous SNV ZNF618:NM_133374:exon8:c.G609A:p.T203T exonic ENSG00000157657 NA synonymous SNV ENSG00000157657:ENST00000452710:exon7:c.G573A:p.T191T,ENSG00000157657:ENST00000288466:exon8:c.G609A:p.T203T,ENSG00000157657:ENST00000374124:exon8:c.G609A:p.T203T,ENSG00000157657:ENST00000374126:exon9:c.G705A:p.T235T Score=483;Name=lod=123 NA 9q32 Score=790;Name=V$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 996 2 196681546 196681546 G A exonic DNAH7 NA synonymous SNV DNAH7:NM_018897:exon51:c.C9567T:p.A3189A exonic ENSG00000118997 NA synonymous SNV ENSG00000118997:ENST00000312428:exon51:c.C9567T:p.A3189A NA NA 2q32.3 Score=875;Name=V$ELK1_01 NA NA NA rs139963761 0.0037 0.0037 0.005 0.00219649 0.008 NA 0.0029 NA 0.001 0.01 NA 0.0028 NA 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 0.741023 NA NA 0.009268 0.001335 NA NA NA 6.6437986 996 8 73993267 73993267 G A exonic SBSPON NA synonymous SNV SBSPON:NM_153225:exon2:c.C396T:p.C132C exonic ENSG00000164764 NA synonymous SNV ENSG00000164764:ENST00000297354:exon2:c.C396T:p.C132C Score=378;Name=lod=46 NA 8q21.11 NA NA NA NA rs117453532 0.0018 0.0018 0.004 0.00159744 0.006 NA 0.0014 0.0008 NA 0.0026 NA 0.0028 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 -0.23802 NA NA 0.011124 0.001239 NA NA NA 6.6436426 996 19 6714374 6714374 C T exonic C3 NA synonymous SNV C3:NM_000064:exon5:c.G588A:p.P196P exonic ENSG00000125730 NA synonymous SNV ENSG00000125730:ENST00000245907:exon5:c.G588A:p.P196P NA NA 19p13.3 NA Name=ELF1_(SC-631) NA NA rs150007726 0.0041 0.0041 0.002 0.00519169 0.008 NA 0.0058 NA 0.0143 0.01 NA 0.01 NA 0.0068 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 -1.163222 NA NA 0.008372 0.000681 NA 0.007 NA 6.6434946 996 19 45575663 45575663 T G exonic ZNF296 NA synonymous SNV ZNF296:NM_145288:exon3:c.A624C:p.A208A exonic ENSG00000170684 NA synonymous SNV ENSG00000170684:ENST00000303809:exon3:c.A624C:p.A208A NA NA 19q13.32 NA Name=Pol2 NA NA rs61753954 0.01 0.01 NA 0.00998403 0.0099 NA 0.0043 0.0151 0.0174 0.01 NA 0.01 0.02 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 0.203557 NA NA NA NA NA NA NA 6.6434666 996 22 47070642 47070642 G A exonic GRAMD4 NA synonymous SNV GRAMD4:NM_015124:exon15:c.G1473A:p.T491T exonic ENSG00000075240 NA synonymous SNV ENSG00000075240:ENST00000408031:exon1:c.G42A:p.T14T,ENSG00000075240:ENST00000361034:exon15:c.G1473A:p.T491T,ENSG00000075240:ENST00000406902:exon16:c.G1473A:p.T491T Score=526;Name=lod=183 NA 22q13.31 NA NA NA NA rs144224839 0.0032 0.0032 NA 0.00319489 0.008 NA 0.0014 NA 0.0072 0.01 NA NA NA 0.0065 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 0.930725 NA NA 0.008837 0.000681 NA NA NA 6.6433296 996 19 34180194 34180194 G A exonic CHST8 NA synonymous SNV CHST8:NM_001127896:exon2:c.G27A:p.R9R,CHST8:NM_022467:exon2:c.G27A:p.R9R,CHST8:NM_001127895:exon3:c.G27A:p.R9R exonic ENSG00000124302 NA synonymous SNV ENSG00000124302:ENST00000262622:exon2:c.G27A:p.R9R,ENSG00000124302:ENST00000438847:exon2:c.G27A:p.R9R,ENSG00000124302:ENST00000604556:exon2:c.G27A:p.R9R,ENSG00000124302:ENST00000434302:exon3:c.G27A:p.R9R,ENSG00000124302:ENST00000591231:exon3:c.G27A:p.R9R Score=504;Name=lod=149 NA 19q13.11 NA NA NA NA rs62103464 0.0037 0.0037 0.003 0.00199681 0.008 NA 0.0029 NA NA 0.01 NA 0.01 NA 0.0073 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 1.402386 1.402386 NA 0.00814 0.001135 NA NA NA 6.6432266 996 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 996 20 62198348 62198348 C T exonic HELZ2 NA nonsynonymous SNV HELZ2:NM_033405:exon1:c.G656A:p.S219N,HELZ2:NM_001037335:exon7:c.G2363A:p.S788N exonic ENSG00000130589 NA nonsynonymous SNV ENSG00000130589:ENST00000427522:exon1:c.G656A:p.S219N,ENSG00000130589:ENST00000467148:exon6:c.G2363A:p.S788N NA NA 20q13.33 NA NA NA NA rs438363 0.92 0.92 0.927 0.935304 0.8767 0.999 0.9092 0.9047 0.9898 0.87 1 0.91 0.9 0.9145 1 0.64 T 0.006 B 0.004 B 0.278 N 1.000 P 1.04 L -1.6 D -0.972 T 0.000 T 0.003 -0.166 3.191 -10.3 -2.525 -0.797 2.821 -0.16577 NA 0.46 0.900535 0.903314 ID=COSM444229;OCCURENCE=1(breast) 0.92 NA 6.6415984 996 17 79182769 79182769 G A exonic AZI1 NA synonymous SNV AZI1:NM_001009811:exon3:c.C231T:p.N77N,AZI1:NM_014984:exon3:c.C231T:p.N77N exonic ENSG00000141577 NA synonymous SNV ENSG00000141577:ENST00000269392:exon3:c.C231T:p.N77N,ENSG00000141577:ENST00000374782:exon3:c.C231T:p.N77N,ENSG00000141577:ENST00000450824:exon3:c.C231T:p.N77N,ENSG00000141577:ENST00000575907:exon3:c.C231T:p.N77N Score=431;Name=lod=75 NA 17q25.3 NA NA NA NA rs147013250 0.01 0.01 0.003 0.00239617 0.0109 NA 0.0014 NA NA 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 -0.969591 NA NA 0.008372 0.00227 NA NA NA 6.6415946 996 17 61908556 61908556 C T exonic PSMC5 NA synonymous SNV PSMC5:NM_001199163:exon8:c.C816T:p.L272L,PSMC5:NM_002805:exon8:c.C840T:p.L280L exonic ENSG00000087191 NA synonymous SNV ENSG00000087191:ENST00000581882:exon7:c.C816T:p.L272L,ENSG00000087191:ENST00000582130:exon7:c.C783T:p.L261L,ENSG00000087191:ENST00000310144:exon8:c.C840T:p.L280L,ENSG00000087191:ENST00000375812:exon8:c.C816T:p.L272L,ENSG00000087191:ENST00000580864:exon9:c.C816T:p.L272L Score=607;Name=lod=391 NA 17q23.3 NA Name=c-Myc,Pol2 NA NA rs13030 0.36 0.36 0.334 0.396565 0.327 0.505 0.4467 0.1884 0.6022 0.33 0.53 0.4 0.19 0.3761 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29334 NA NA 0.322093 0.207898 NA 0.362 NA 6.6414736 996 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 996 15 41193149 41193149 C T exonic VPS18 NA synonymous SNV VPS18:NM_020857:exon4:c.C2133T:p.R711R exonic ENSG00000104142 NA synonymous SNV ENSG00000104142:ENST00000220509:exon4:c.C2133T:p.R711R Score=463;Name=lod=102 NA 15q15.1 NA NA NA NA rs12914973 0.0037 0.0037 0.002 0.00259585 0.0099 NA NA 0.0008 0.002 0.01 0.0017 NA 0.002 0.0063 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 -0.011498 NA NA 0.009186 0.001362 NA NA NA 6.6412806 996 5 75967722 75967722 C T exonic IQGAP2 NA synonymous SNV IQGAP2:NM_006633:exon24:c.C2982T:p.D994D exonic ENSG00000145703 NA synonymous SNV ENSG00000145703:ENST00000396234:exon12:c.C1470T:p.D490D,ENSG00000145703:ENST00000502745:exon12:c.C1470T:p.D490D,ENSG00000145703:ENST00000379730:exon23:c.C1488T:p.D496D,ENSG00000145703:ENST00000505766:exon23:c.C2832T:p.D944D,ENSG00000145703:ENST00000274364:exon24:c.C2982T:p.D994D Score=366;Name=lod=41 NA 5q13.3 NA NA NA NA rs76979655 0.0041 0.0041 0.002 0.00259585 0.0089 NA 0.0058 NA NA 0.01 NA 0.01 NA 0.0078 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 -0.371407 NA NA 0.008953 0.001589 NA NA NA 6.6410136 996 19 17836943 17836943 C T exonic MAP1S NA synonymous SNV MAP1S:NM_018174:exon5:c.C750T:p.L250L exonic ENSG00000130479 NA synonymous SNV ENSG00000130479:ENST00000324096:exon5:c.C750T:p.L250L,ENSG00000130479:ENST00000544059:exon5:c.C672T:p.L224L Score=389;Name=lod=51 NA 19p13.11 NA NA NA NA rs115609579 0.01 0.01 0.003 0.00399361 0.0109 0.003 0.0029 0.0008 0.0031 0.01 NA 0.0028 NA 0.0066 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 -0.856365 NA NA 0.008372 0.00227 ID=COSM438928;OCCURENCE=1(breast) NA NA 6.6407946 996 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 996 17 41797254 41797254 C G intergenic MEOX1,SOST dist=57992;dist=33845 NA NA ncRNA_exonic ENSG00000267253 NA NA NA Score=622;Name=lod=449 NA 17q21.31 NA Name=JunD,MafK_(SC-477),MafK_(ab50322) Name=13 NA rs2342312 0.31 0.31 0.309 0.275359 0.3598 0.1875 0.2824 0.2806 0.2669 0.37 0.2 0.33 0.33 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 0.569296 NA NA NA NA NA 0.261 NA 6.6402 996 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 996 15 62274758 62274758 T G exonic VPS13C NA synonymous SNV VPS13C:NM_017684:exon19:c.A1800C:p.A600A,VPS13C:NM_018080:exon19:c.A1800C:p.A600A,VPS13C:NM_001018088:exon21:c.A1929C:p.A643A,VPS13C:NM_020821:exon21:c.A1929C:p.A643A exonic ENSG00000129003 NA synonymous SNV ENSG00000129003:ENST00000249837:exon19:c.A1800C:p.A600A,ENSG00000129003:ENST00000395898:exon19:c.A1800C:p.A600A,ENSG00000129003:ENST00000261517:exon21:c.A1929C:p.A643A,ENSG00000129003:ENST00000395896:exon21:c.A1929C:p.A643A Score=621;Name=lod=445 NA 15q22.2 NA NA NA NA rs115871350 0.0041 0.0041 0.004 0.00239617 0.0089 NA 0.0043 NA NA 0.01 NA 0.0028 NA 0.0086 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 0.756268 NA NA 0.009186 0.000908 NA 0.007 NA 6.6399806 996 16 29845269 29845269 C A exonic MVP NA synonymous SNV MVP:NM_005115:exon5:c.C459A:p.P153P,MVP:NM_017458:exon5:c.C459A:p.P153P exonic ENSG00000013364 NA synonymous SNV ENSG00000013364:ENST00000357402:exon5:c.C459A:p.P153P,ENSG00000013364:ENST00000395353:exon5:c.C459A:p.P153P,ENSG00000013364:ENST00000563915:exon5:c.C459A:p.P153P Score=509;Name=lod=156 NA 16p11.2 NA NA NA NA rs113616507 0.0046 0.0046 0.004 0.00339457 0.0119 NA 0.0029 NA 0.0031 0.01 NA 0.0028 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 1.287857 1.287857 NA 0.008721 0.000683 NA NA NA 6.6396456 996 6 97063555 97063555 A G exonic FHL5 NA synonymous SNV FHL5:NM_001170807:exon6:c.A762G:p.K254K,FHL5:NM_020482:exon7:c.A762G:p.K254K exonic ENSG00000112214 NA synonymous SNV ENSG00000112214:ENST00000541107:exon6:c.A762G:p.K254K,ENSG00000112214:ENST00000326771:exon7:c.A762G:p.K254K Score=358;Name=lod=38 NA 6q16.1 Score=753;Name=V$TCF11MAFG_01 NA NA NA rs9398148 0.39 0.39 0.41 0.384585 0.3489 0.3522 0.2997 0.5038 0.3538 0.34 0.35 0.34 0.53 0.3443 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.2966 1.2966 NA 0.333837 0.490468 NA 0.399 NA 6.6396296 996 16 83711944 83711944 C T exonic CDH13 NA synonymous SNV CDH13:NM_001220489:exon9:c.C1299T:p.N433N,CDH13:NM_001220490:exon9:c.C654T:p.N218N,CDH13:NM_001257:exon10:c.C1416T:p.N472N,CDH13:NM_001220488:exon11:c.C1557T:p.N519N exonic ENSG00000140945 NA synonymous SNV ENSG00000140945:ENST00000428848:exon9:c.C1299T:p.N433N,ENSG00000140945:ENST00000566620:exon10:c.C1416T:p.N472N,ENSG00000140945:ENST00000268613:exon11:c.C1557T:p.N519N Score=461;Name=lod=100 NA 16q23.3 NA NA NA NA rs147140848 0.0023 0.0023 0.002 0.00139776 0.007 NA NA NA NA 0.01 NA NA NA 0.008 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 1.074515 NA NA 0.012316 0.00403 NA NA NA 6.6393506 996 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 996 15 44855454 44855454 C T exonic SPG11 NA synonymous SNV SPG11:NM_001160227:exon38:c.G6858A:p.K2286K,SPG11:NM_025137:exon40:c.G7197A:p.K2399K exonic ENSG00000104133 NA synonymous SNV ENSG00000104133:ENST00000535302:exon38:c.G6858A:p.K2286K,ENSG00000104133:ENST00000261866:exon40:c.G7197A:p.K2399K Score=440;Name=lod=82 NA 15q21.1 NA NA NA NA rs61732733 0.0046 0.0046 0.003 0.00219649 0.0089 NA NA 0.0015 NA 0.01 NA NA 0.0041 0.0064 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 0.382876 NA NA 0.012564 0.001592 NA 0.007 NA 6.6388026 996 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 996 17 6381945 6381945 G A exonic PITPNM3 NA synonymous SNV PITPNM3:NM_001165966:exon6:c.C591T:p.V197V,PITPNM3:NM_031220:exon7:c.C699T:p.V233V exonic ENSG00000091622 NA synonymous SNV ENSG00000091622:ENST00000421306:exon6:c.C591T:p.V197V,ENSG00000091622:ENST00000262483:exon7:c.C699T:p.V233V NA NA 17p13.2 Score=816;Name=V$RFX1_02 NA NA NA rs149964592 0.01 0.01 0.004 0.00379393 0.0089 NA 0.0115 0.0008 0.001 0.01 NA 0.01 NA 0.008 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 -0.282166 NA NA 0.011279 0.00227 ID=COSM983086;OCCURENCE=1(endometrium) 0.051 NA 6.6384876 996 14 55818275 55818275 A G exonic FBXO34 NA synonymous SNV FBXO34:NM_017943:exon2:c.A1167G:p.L389L,FBXO34:NM_152231:exon2:c.A1167G:p.L389L exonic ENSG00000178974 NA synonymous SNV ENSG00000178974:ENST00000555280:exon1:c.A765G:p.L255L,ENSG00000178974:ENST00000313833:exon2:c.A1167G:p.L389L,ENSG00000178974:ENST00000440021:exon2:c.A1167G:p.L389L NA NA 14q22.3 Score=774;Name=V$HTF_01 NA NA NA rs35342573 0.01 0.01 0.012 0.0125799 0.008 NA 0.0086 0.025 0.0164 0.01 NA 0.01 0.03 0.0101 0.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.038137 NA NA 0.010233 0.017476 NA 0.007 NA 6.6383336 996 19 1997363 1997363 A G exonic BTBD2 NA synonymous SNV BTBD2:NM_017797:exon2:c.T507C:p.A169A exonic ENSG00000133243 NA synonymous SNV ENSG00000133243:ENST00000255608:exon2:c.T507C:p.A169A Score=431;Name=lod=75 NA 19p13.3 Score=764;Name=V$YY1_02 NA NA NA rs1610045 0.45 0.45 0.408 0.454673 0.329 0.4891 0.4092 0.6074 0.3742 0.34 0.46 0.4 0.62 0.377 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078359 NA NA 0.322558 0.561507 NA 0.406 NA 6.6381086 996 1 26610891 26610891 A C exonic UBXN11 NA nonsynonymous SNV UBXN11:NM_001077262:exon7:c.T575G:p.L192R,UBXN11:NM_145345:exon11:c.T836G:p.L279R,UBXN11:NM_183008:exon12:c.T935G:p.L312R exonic ENSG00000158062 NA nonsynonymous SNV ENSG00000158062:ENST00000314675:exon7:c.T575G:p.L192R,ENSG00000158062:ENST00000374223:exon8:c.T206G:p.L69R,ENSG00000158062:ENST00000357089:exon10:c.T836G:p.L279R,ENSG00000158062:ENST00000374217:exon11:c.T836G:p.L279R,ENSG00000158062:ENST00000374221:exon12:c.T935G:p.L312R,ENSG00000158062:ENST00000374222:exon12:c.T935G:p.L312R NA NA 1p36.11 NA Name=CEBPB NA NA rs4332350 0.76 0.76 0.777 0.727037 0.9304 0.4603 0.6945 0.8828 0.6053 0.93 0.47 0.73 0.86 0.8276 0.94 0.55 T 0.0 B 0.0 B 0.372 N 1.000 P -1.61 N 2.63 T -1.021 T 0.000 T 0.268 -0.475 1.811 -2.06 -0.475 -0.442 3.125 -0.474763 NA 0.22 0.937337 0.882745 NA 0.797 NA 6.6379964 996 1 31188089 31188089 C T exonic MATN1 NA synonymous SNV MATN1:NM_002379:exon6:c.G1275A:p.E425E exonic ENSG00000162510 NA synonymous SNV ENSG00000162510:ENST00000373765:exon6:c.G1275A:p.E425E Score=355;Name=lod=37 NA 1p35.2 NA Name=SETDB1 NA NA rs1065755 0.29 0.29 0.281 0.28754 0.3638 0.1835 0.4121 0.2564 0.2699 0.36 0.17 0.37 0.23 0.3253 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062655 NA NA 0.339767 0.290967 NA 0.225 NA 6.6377996 996 1 44072018 44072018 C T exonic PTPRF NA synonymous SNV PTPRF:NM_130440:exon19:c.C3564T:p.T1188T,PTPRF:NM_002840:exon20:c.C3591T:p.T1197T exonic ENSG00000142949 NA synonymous SNV ENSG00000142949:ENST00000372407:exon7:c.C774T:p.T258T,ENSG00000142949:ENST00000422171:exon10:c.C1635T:p.T545T,ENSG00000142949:ENST00000372413:exon17:c.C3564T:p.T1188T,ENSG00000142949:ENST00000372414:exon18:c.C3591T:p.T1197T,ENSG00000142949:ENST00000438120:exon19:c.C3564T:p.T1188T,ENSG00000142949:ENST00000359947:exon20:c.C3591T:p.T1197T Score=436;Name=lod=79 NA 1p34.2 NA NA NA NA rs1065772 0.29 0.29 0.233 0.278155 0.3569 0.4702 0.268 0.0371 0.3323 0.35 0.4 0.3 0.05 0.3235 0.4 . . . . . . . . 0.000 P . . . . -0.929 T 0.000 T . -0.764 0.778 1.07 0.023 0.196 5.306 -0.763508 NA NA 0.348837 0.094871 NA 0.232 NA 6.6374296 996 15 74741686 74741686 C T exonic UBL7 NA synonymous SNV UBL7:NM_032907:exon9:c.G723A:p.R241R,UBL7:NM_201265:exon9:c.G723A:p.R241R exonic ENSG00000138629 NA synonymous SNV ENSG00000138629:ENST00000565130:exon7:c.G555A:p.R185R,ENSG00000138629:ENST00000361351:exon9:c.G723A:p.R241R,ENSG00000138629:ENST00000395081:exon9:c.G723A:p.R241R,ENSG00000138629:ENST00000567435:exon9:c.G723A:p.R241R,ENSG00000138629:ENST00000564488:exon10:c.G723A:p.R241R,ENSG00000138629:ENST00000565335:exon10:c.G723A:p.R241R Score=441;Name=lod=83 NA 15q24.1 NA NA NA NA rs147593058 0.01 0.01 0.002 0.00858626 0.0089 NA 0.0086 0.0008 0.0276 0.01 NA 0.01 NA 0.011 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 0.088408 NA NA 0.009777 0.001365 NA 0.007 NA 6.6369896 996 13 50118998 50118998 C T exonic RCBTB1 NA synonymous SNV RCBTB1:NM_018191:exon10:c.G1047A:p.E349E exonic ENSG00000136144 NA synonymous SNV ENSG00000136144:ENST00000258646:exon8:c.G1047A:p.E349E,ENSG00000136144:ENST00000378302:exon10:c.G1047A:p.E349E Score=605;Name=lod=384 NA 13q14.2 NA NA NA NA rs41284792 0.0041 0.0041 0.003 0.00379393 0.0089 NA NA 0.0076 NA 0.01 NA NA NA 0.0081 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 1.164542 NA NA 0.013029 0.002498 NA NA NA 6.6366376 996 6 17640216 17640216 T G exonic NUP153 NA synonymous SNV NUP153:NM_005124:exon15:c.A1800C:p.A600A exonic ENSG00000124789 NA synonymous SNV ENSG00000124789:ENST00000262077:exon15:c.A1800C:p.A600A,ENSG00000124789:ENST00000537253:exon16:c.A1893C:p.A631A Score=436;Name=lod=79 NA 6p22.3 NA NA NA NA rs2228376 0.01 0.01 0 0.00519169 0.0119 NA 0.0101 0.0008 0.0061 0.01 NA 0.01 0.002 0.0072 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 1.328496 1.328496 NA 0.011398 0.000681 NA 0.007 NA 6.6361686 996 19 50119361 50119361 C T exonic PRR12 NA synonymous SNV PRR12:NM_020719:exon9:c.C5382T:p.P1794P exonic ENSG00000126464 NA synonymous SNV ENSG00000126464:ENST00000418929:exon9:c.C5382T:p.P1794P Score=534;Name=lod=198 NA 19q13.33 NA NA NA NA rs192948887 0.0027 0.0027 NA 0.00279553 0.008 NA 0.0058 0.0015 NA 0.004 NA 0.0028 0.0041 0.0143 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 0.619766 NA NA 0.008395 0.001207 NA 0.007 NA 6.6359716 996 22 47103744 47103744 G A exonic CERK NA synonymous SNV CERK:NM_022766:exon6:c.C711T:p.P237P exonic ENSG00000100422 NA synonymous SNV ENSG00000100422:ENST00000541677:exon5:c.C117T:p.P39P,ENSG00000100422:ENST00000216264:exon6:c.C711T:p.P237P Score=468;Name=lod=106 NA 22q13.31 NA NA NA NA rs61748564 0.0037 0.0037 0.001 0.00259585 0.0089 0.001 0.0029 NA 0.001 0.01 NA 0.01 NA 0.0093 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 -0.365214 NA NA 0.012674 0.002951 NA NA NA 6.6357926 996 12 6494240 6494240 A G exonic LTBR NA synonymous SNV LTBR:NM_001270987:exon3:c.A189G:p.T63T,LTBR:NM_002342:exon3:c.A246G:p.T82T exonic ENSG00000111321 NA synonymous SNV ENSG00000111321:ENST00000228918:exon3:c.A246G:p.T82T,ENSG00000111321:ENST00000536876:exon3:c.A231G:p.T77T,ENSG00000111321:ENST00000539925:exon3:c.A189G:p.T63T NA NA 12p13.31 NA NA Name=15 NA rs41480749 0.01 0.01 0.003 0.00439297 0.0119 NA 0.0101 NA 0.0031 0.01 NA 0.02 NA 0.0082 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 0.680575 NA NA 0.011163 0.001135 NA 0.007 NA 6.6354036 997 11 8959370 8959370 G A exonic ASCL3 NA synonymous SNV ASCL3:NM_020646:exon2:c.C339T:p.Y113Y exonic ENSG00000176009 NA synonymous SNV ENSG00000176009:ENST00000531618:exon1:c.C339T:p.Y113Y,ENSG00000176009:ENST00000325884:exon2:c.C339T:p.Y113Y Score=525;Name=lod=181 NA 11p15.4 NA Name=E2F6_(H-50) NA NA rs2742505 0.25 0.25 0.238 0.268171 0.3549 0.2212 0.2478 0.1051 0.4622 0.36 0.17 0.31 0.14 0.3247 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.163077 NA NA 0.352736 0.13244 ID=COSM147141;OCCURENCE=1(stomach) 0.261 NA 6.6343306 997 16 27238110 27238110 C T exonic NSMCE1 NA synonymous SNV NSMCE1:NM_145080:exon6:c.G531A:p.E177E exonic ENSG00000169189 NA synonymous SNV ENSG00000169189:ENST00000562039:exon2:c.G126A:p.E42E,ENSG00000169189:ENST00000361439:exon6:c.G531A:p.E177E,ENSG00000169189:ENST00000563273:exon6:c.G528A:p.E176E Score=498;Name=lod=141 NA 16p12.1 Score=865;Name=V$ZID_01 NA NA NA rs1127228 0.33 0.33 0.345 0.315895 0.3519 0.4653 0.2334 0.1747 0.3742 0.35 0.47 0.25 0.19 0.3404 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.168314 NA NA 0.341217 0.184072 NA 0.283 NA 6.6331496 997 19 51323501 51323501 A G exonic KLK1 NA synonymous SNV KLK1:NM_002257:exon3:c.T405C:p.D135D exonic ENSG00000167748 NA synonymous SNV ENSG00000167748:ENST00000301420:exon3:c.T405C:p.D135D,ENSG00000167748:ENST00000448701:exon4:c.T99C:p.D33D NA NA 19q13.33 Score=863;Name=V$TAL1ALPHAE47_01 Name=E2F6,E2F6_(H-50) Name=8 NA rs1054713 0.74 0.74 0.705 0.727236 0.672 0.8026 0.7651 0.7466 0.6534 0.68 0.82 0.77 0.72 0.694 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 0.181147 NA NA 0.667907 0.743985 NA 0.754 NA 6.6327596 997 19 38230581 38230581 G A exonic ZNF573 NA synonymous SNV ZNF573:NM_001172692:exon4:c.C546T:p.G182G,ZNF573:NM_001172690:exon5:c.C810T:p.G270G,ZNF573:NM_001172691:exon5:c.C804T:p.G268G,ZNF573:NM_001172689:exon6:c.C546T:p.G182G,ZNF573:NM_152360:exon8:c.C636T:p.G212G exonic ENSG00000189144 NA synonymous SNV ENSG00000189144:ENST00000392138:exon3:c.C549T:p.G183G,ENSG00000189144:ENST00000357309:exon4:c.C546T:p.G182G,ENSG00000189144:ENST00000590414:exon4:c.C810T:p.G270G,ENSG00000189144:ENST00000536220:exon6:c.C546T:p.G182G,ENSG00000189144:ENST00000339503:exon8:c.C636T:p.G212G Score=445;Name=lod=86 NA 19q13.12 NA NA NA NA rs80333275 0.01 0.01 0.006 0.00559105 0.0129 NA 0.0072 NA 0.0102 0.01 NA 0.01 NA 0.0103 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 0.377415 NA NA 0.011047 0.001589 NA 0.007 NA 6.6324196 997 10 124096035 124096035 T C exonic BTBD16 NA synonymous SNV BTBD16:NM_144587:exon15:c.T1290C:p.S430S exonic ENSG00000138152 NA synonymous SNV ENSG00000138152:ENST00000260723:exon15:c.T1290C:p.S430S,ENSG00000138152:ENST00000368994:exon15:c.T1293C:p.S431S NA NA 10q26.13 Score=707;Name=V$HOX13_01 NA Name=13 NA rs3817281 0.47 0.47 0.414 0.459265 0.326 0.6935 0.4856 0.3956 0.4223 0.32 0.7 0.45 0.42 0.3893 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 0.220236 NA NA 0.319302 0.356559 NA 0.435 NA 6.6320646 997 5 140346712 140346712 T C exonic PCDHAC2 NA synonymous SNV PCDHAC2:NM_018899:exon1:c.T361C:p.L121L,PCDHAC2:NM_031883:exon1:c.T361C:p.L121L exonic ENSG00000243232 NA synonymous SNV ENSG00000243232:ENST00000289269:exon1:c.T361C:p.L121L Score=519;Name=lod=171 NA 5q31.3 NA NA Name=16 NA rs155808 0.35 0.35 0.304 0.359425 0.3419 0.5486 0.402 0.2239 0.3354 0.33 0.53 0.31 0.2 0.3537 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.430587 1.430587 NA 0.339186 0.251475 NA 0.268 NA 6.6318806 997 3 63981424 63981424 A G exonic ATXN7 NA synonymous SNV ATXN7:NM_001128149:exon8:c.A1491G:p.Q497Q,ATXN7:NM_001177387:exon11:c.A1926G:p.Q642Q,ATXN7:NM_000333:exon12:c.A1926G:p.Q642Q exonic ENSG00000163635 NA synonymous SNV ENSG00000163635:ENST00000484332:exon8:c.A1491G:p.Q497Q,ENSG00000163635:ENST00000538065:exon10:c.A1926G:p.Q642Q,ENSG00000163635:ENST00000487717:exon11:c.A1926G:p.Q642Q,ENSG00000163635:ENST00000295900:exon12:c.A1926G:p.Q642Q,ENSG00000163635:ENST00000398590:exon12:c.A1926G:p.Q642Q Score=527;Name=lod=185 NA 3p14.1 NA NA NA NA rs1053339 0.02 0.02 0.02 0.0207668 0.0119 0.001 0.0086 0.0628 0.002 0.01 NA 0.01 0.05 0.0118 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 0.877581 NA NA 0.011276 0.055761 NA 0.022 NA 6.6316906 997 10 101564012 101564012 C G exonic ABCC2 NA synonymous SNV ABCC2:NM_000392:exon10:c.C1446G:p.T482T exonic ENSG00000023839 NA synonymous SNV ENSG00000023839:ENST00000370449:exon10:c.C1446G:p.T482T Score=355;Name=lod=37 NA 10q24.2 NA NA NA NA rs113646094 0.01 0.01 0.003 0.00319489 0.0099 NA 0.0072 0.0008 NA 0.01 NA 0.01 0.002 0.01 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 -0.107966 NA NA 0.015349 0.002724 NA NA NA 6.6314176 997 20 62641605 62641605 G A exonic PRPF6 NA synonymous SNV PRPF6:NM_012469:exon10:c.G1239A:p.L413L exonic ENSG00000101161 NA synonymous SNV ENSG00000101161:ENST00000266079:exon10:c.G1239A:p.L413L,ENSG00000101161:ENST00000535781:exon10:c.G1239A:p.L413L Score=493;Name=lod=134 NA 20q13.33 NA NA NA NA rs41278236 0.0023 0.0023 NA 0.00279553 0.0089 NA 0.0043 NA 0.002 0.004 NA 0.01 NA 0.012 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 0.755414 NA NA 0.014419 0.004539 NA 0.007 NA 6.6313476 997 18 67871343 67871343 A C exonic RTTN NA nonsynonymous SNV RTTN:NM_173630:exon3:c.T376G:p.S126A exonic ENSG00000176225 NA nonsynonymous SNV ENSG00000176225:ENST00000255674:exon3:c.T376G:p.S126A,ENSG00000176225:ENST00000437017:exon3:c.T376G:p.S126A,ENSG00000176225:ENST00000454359:exon3:c.T376G:p.S126A,ENSG00000176225:ENST00000581161:exon3:c.T376G:p.S126A NA NA 18q22.2 Score=895;Name=V$CEBP_01 NA NA NA rs3911730 0.76 0.76 0.705 0.71226 0.9135 0.994 0.8401 0.1362 0.9029 0.92 1 0.85 0.19 0.8654 1 0.85 T 0.0 B 0.002 B 0.613 N 1.000 P 1.265 L 0.58 T -0.920 T 0.000 T 0.044 1.366 10.49 -1.54 -0.510 -0.751 0.816 1.365614 1.365614 0.24 0.924027 0.290717 NA 0.58 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118208.2;CLNDSDB=.;CLNDSDBID=. 6.6304064 997 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$MYB_Q6 NA NA NA rs2076300 0.23 0.23 0.223 0.211661 0.3797 0.0744 0.2421 0.1369 0.2597 0.38 0.06 0.28 0.15 0.2881 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.416674 NA NA 0.368953 0.172038 ID=COSM150043;OCCURENCE=1(stomach) 0.268 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038083.1;CLNDSDB=.;CLNDSDBID=. 6.6299136 997 19 17091368 17091368 T G exonic CPAMD8 NA synonymous SNV CPAMD8:NM_015692:exon14:c.A1665C:p.R555R exonic ENSG00000160111 NA synonymous SNV ENSG00000160111:ENST00000443236:exon14:c.A1665C:p.R555R Score=371;Name=lod=43 NA 19p13.11 NA NA NA NA rs8103646 0.47 0.47 0.486 0.473842 0.3509 0.5506 0.3559 0.6475 0.3701 0.36 0.55 0.37 0.64 0.3693 0.64 . . . . . . . . 0.000 P . . . . -0.938 T 0.000 T . 0.564 7.048 0.633 0.105 -0.114 7.174 0.563842 NA NA 0.316903 0.568101 NA 0.261 NA 6.6295636 997 19 52537576 52537576 T G exonic ZNF432 NA synonymous SNV ZNF432:NM_014650:exon5:c.A1356C:p.T452T exonic ENSG00000256087 NA synonymous SNV ENSG00000256087:ENST00000221315:exon5:c.A1356C:p.T452T,ENSG00000256087:ENST00000594154:exon5:c.A1356C:p.T452T Score=420;Name=lod=68 NA 19q13.41 NA Name=SETDB1,ZNF274,KAP1 NA NA rs11666149 0.49 0.49 0.492 0.560503 0.3131 0.5228 0.4697 0.7587 0.6503 0.32 0.53 0.44 0.77 0.4195 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.620126 NA NA 0.304535 0.713118 ID=COSM148715;OCCURENCE=1(stomach) 0.514 NA 6.6295316 997 3 14712473 14712473 G A exonic CCDC174 NA synonymous SNV CCDC174:NM_016474:exon11:c.G1176A:p.P392P exonic ENSG00000154781 NA synonymous SNV ENSG00000154781:ENST00000303688:exon9:c.G948A:p.P316P,ENSG00000154781:ENST00000383794:exon11:c.G1176A:p.P392P Score=540;Name=lod=208 NA 3p25.1 Score=884;Name=V$CEBPA_01 NA NA NA rs1901 0.37 0.37 0.378 0.345447 0.3499 0.2262 0.4568 0.4614 0.228 0.35 0.25 0.44 0.49 0.3491 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.311854 1.311854 NA 0.338256 0.455515 NA 0.254 NA 6.6294106 997 1 242030151 242030151 A G exonic EXO1 NA nonsynonymous SNV EXO1:NM_003686:exon9:c.A1061G:p.H354R,EXO1:NM_006027:exon9:c.A1061G:p.H354R,EXO1:NM_130398:exon11:c.A1061G:p.H354R exonic ENSG00000174371 NA nonsynonymous SNV ENSG00000174371:ENST00000348581:exon9:c.A1061G:p.H354R,ENSG00000174371:ENST00000518483:exon9:c.A1061G:p.H354R,ENSG00000174371:ENST00000366548:exon11:c.A1061G:p.H354R Score=391;Name=lod=52 NA 1q43 NA NA NA NA rs735943 0.65 0.65 0.619 0.636981 0.5716 0.7956 0.6902 0.615 0.5327 0.58 0.78 0.67 0.6 0.593 0.78 0.62 T 0.0 B 0.001 B 0.241 N 1.000 P 0.975 L 1.41 T -0.990 T 0.000 T 0.044 -1.937 0.007 -0.821 -0.369 0.382 11.725 -1.936856 NA 1 0.539651 0.621652 NA 0.746 NA 6.6290824 997 17 7496839 7496839 G A exonic FXR2 NA synonymous SNV FXR2:NM_004860:exon12:c.C1212T:p.S404S exonic ENSG00000129245 NA synonymous SNV ENSG00000129245:ENST00000250113:exon12:c.C1212T:p.S404S Score=500;Name=lod=143 NA 17p13.1 NA NA NA NA rs118174079 0.0046 0.0046 0.009 0.00479233 0.008 NA 0.0043 NA 0.0133 0.01 NA 0.0028 NA 0.019 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 0.231341 NA NA 0.011132 0.001181 NA 0.007 NA 6.6285346 997 10 124096041 124096041 T C exonic BTBD16 NA synonymous SNV BTBD16:NM_144587:exon15:c.T1296C:p.S432S exonic ENSG00000138152 NA synonymous SNV ENSG00000138152:ENST00000260723:exon15:c.T1296C:p.S432S,ENSG00000138152:ENST00000368994:exon15:c.T1299C:p.S433S NA NA 10q26.13 Score=707;Name=V$HOX13_01 NA Name=13 NA rs1129973 0.47 0.47 0.418 0.459665 0.327 0.6935 0.487 0.3956 0.4223 0.33 0.7 0.46 0.42 0.3892 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.202179 NA NA 0.322209 0.360418 ID=COSM329179;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.435 NA 6.6282576 997 10 104126188 104126188 C T exonic GBF1 NA synonymous SNV GBF1:NM_001199378:exon19:c.C2358T:p.Y786Y,GBF1:NM_001199379:exon19:c.C2355T:p.Y785Y,GBF1:NM_004193:exon19:c.C2355T:p.Y785Y exonic ENSG00000107862 NA synonymous SNV ENSG00000107862:ENST00000369983:exon19:c.C2355T:p.Y785Y Score=652;Name=lod=594 NA 10q24.32 NA NA NA NA rs147857323 0.01 0.01 0.004 0.00399361 0.0139 NA 0.0014 NA 0.0051 0.02 NA 0.0028 NA 0.0129 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.131183 NA NA 0.011628 0.000681 NA 0.007 NA 6.6282386 997 20 19970705 19970705 C T exonic RIN2 NA synonymous SNV RIN2:NM_018993:exon8:c.C1818T:p.H606H,RIN2:NM_001242581:exon9:c.C1965T:p.H655H exonic ENSG00000132669 NA synonymous SNV ENSG00000132669:ENST00000440354:exon5:c.C519T:p.H173H,ENSG00000132669:ENST00000255006:exon9:c.C1965T:p.H655H Score=520;Name=lod=173 NA 20p11.23 Score=930;Name=V$NMYC_01 NA NA NA rs2076584 0.45 0.45 0.467 0.413938 0.33 0.6806 0.4784 0.3782 0.228 0.33 0.69 0.46 0.36 0.4076 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 0.951211 NA NA 0.302351 0.374803 NA 0.341 NA 6.6267156 997 12 56669799 56669799 G A exonic CS NA synonymous SNV CS:NM_004077:exon7:c.C769T:p.L257L exonic ENSG00000062485 NA synonymous SNV ENSG00000062485:ENST00000351328:exon7:c.C769T:p.L257L,ENSG00000062485:ENST00000542324:exon8:c.C730T:p.L244L,ENSG00000062485:ENST00000548567:exon8:c.C571T:p.L191L Score=738;Name=lod=1328 NA 12q13.3 NA NA NA NA rs61738833 0.01 0.01 0.01 0.00559105 0.0189 NA 0.0101 0.0008 0.001 0.02 NA 0.01 NA 0.0075 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 0.93882 NA NA 0.013953 0.002497 NA NA NA 6.6263136 997 17 27425132 27425132 C T exonic MYO18A NA synonymous SNV MYO18A:NM_078471:exon25:c.G3981A:p.K1327K,MYO18A:NM_203318:exon25:c.G3981A:p.K1327K exonic ENSG00000196535 NA synonymous SNV ENSG00000196535:ENST00000354329:exon24:c.G3981A:p.K1327K,ENSG00000196535:ENST00000527372:exon25:c.G3981A:p.K1327K,ENSG00000196535:ENST00000531253:exon25:c.G3981A:p.K1327K,ENSG00000196535:ENST00000533112:exon25:c.G3981A:p.K1327K Score=518;Name=lod=170 NA 17q11.2 NA NA NA NA rs71369700 0.01 0.01 0.008 0.00419329 0.0179 0.001 NA NA 0.002 0.02 NA 0.0028 NA 0.0096 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 0.582825 NA NA 0.013152 0.002782 NA NA NA 6.6260146 997 4 185599489 185599489 G A exonic CCDC111 NA synonymous SNV CCDC111:NM_152683:exon8:c.G948A:p.Q316Q exonic ENSG00000164306 NA nonsynonymous SNV ENSG00000164306:ENST00000508001:exon1:c.G59A:p.S20N NA NA 4q35.1 NA NA NA NA rs34985821 0.07 0.07 0.055 0.0613019 0.1243 0.001 0.1066 0.0272 0.0726 0.12 NA 0.11 0.03 0.1117 0.14 0.56 T . . . . . . 1.000 P . . . . -1.005 T 0.001 T . 0.678 7.626 -1.91 -0.186 -0.522 6.479 0.677847 NA NA 0.138068 0.039755 NA 0.094 NA 6.625932 997 19 54403925 54403925 T C exonic PRKCG NA synonymous SNV PRKCG:NM_002739:exon14:c.T1497C:p.F499F exonic ENSG00000126583 NA synonymous SNV ENSG00000126583:ENST00000542049:exon12:c.T1158C:p.F386F,ENSG00000126583:ENST00000263431:exon14:c.T1497C:p.F499F,ENSG00000126583:ENST00000540413:exon14:c.T1497C:p.F499F Score=617;Name=lod=430 NA 19q13.42 NA NA NA NA rs2242244 0.07 0.07 0.08 0.0605032 0.005 0.1081 0.0245 0.093 0.0501 0.01 0.13 0.04 0.12 0.0312 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.317796 1.317796 NA 0.005349 0.080799 NA 0.08 NA 6.6251176 998 5 141358149 141358149 T C exonic RNF14 NA synonymous SNV RNF14:NM_183398:exon4:c.T210C:p.N70N,RNF14:NM_183399:exon4:c.T588C:p.N196N,RNF14:NM_183400:exon4:c.T588C:p.N196N,RNF14:NM_001201365:exon5:c.T588C:p.N196N,RNF14:NM_004290:exon5:c.T588C:p.N196N,RNF14:NM_183401:exon5:c.T588C:p.N196N exonic ENSG00000013561 NA synonymous SNV ENSG00000013561:ENST00000347642:exon4:c.T588C:p.N196N,ENSG00000013561:ENST00000356143:exon4:c.T588C:p.N196N,ENSG00000013561:ENST00000394514:exon4:c.T210C:p.N70N,ENSG00000013561:ENST00000511961:exon4:c.T588C:p.N196N,ENSG00000013561:ENST00000394519:exon5:c.T588C:p.N196N,ENSG00000013561:ENST00000394520:exon5:c.T588C:p.N196N Score=713;Name=lod=1057 NA 5q31.3 NA NA NA NA rs61748697 0.01 0.01 0.004 0.00559105 0.0189 NA 0.0043 0.0008 0.0051 0.01 NA 0.01 NA 0.0102 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 0.857042 NA NA 0.012674 0.003177 NA NA NA 6.6248926 998 4 174090004 174090004 G A exonic GALNT7 NA synonymous SNV GALNT7:NM_017423:exon1:c.G18A:p.G6G exonic ENSG00000109586 NA synonymous SNV ENSG00000109586:ENST00000265000:exon1:c.G18A:p.G6G,ENSG00000109586:ENST00000512285:exon1:c.G18A:p.G6G Score=604;Name=lod=379 NA 4q34.1 NA Name=HEY1,Pol2-4H8,Pol2 Name=138 NA rs3733477 0.65 0.65 0.617 0.641573 0.7018 0.7183 0.5231 0.5825 0.6646 0.71 0.72 0.54 0.57 0.6615 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.771185 1.771185 NA 0.678721 0.608034 NA 0.022 NA 6.6246456 998 17 1489236 1489236 G A exonic SLC43A2 NA synonymous SNV SLC43A2:NM_152346:exon10:c.C1188T:p.S396S exonic ENSG00000167703 NA synonymous SNV ENSG00000167703:ENST00000412517:exon6:c.C777T:p.S259S,ENSG00000167703:ENST00000301335:exon10:c.C1188T:p.S396S,ENSG00000167703:ENST00000382147:exon10:c.C1200T:p.S400S,ENSG00000167703:ENST00000571650:exon11:c.C1200T:p.S400S NA NA 17p13.3 NA NA Name=48 NA rs117776467 0.01 0.01 0.008 0.00339457 0.0139 NA 0.0014 0.0015 NA 0.02 NA NA 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 -0.579047 NA NA 0.016748 0.002725 NA NA NA 6.6243186 998 3 138289221 138289221 C T exonic CEP70 NA nonsynonymous SNV CEP70:NM_024491:exon6:c.G404A:p.S135N exonic ENSG00000114107 NA nonsynonymous SNV ENSG00000114107:ENST00000462419:exon5:c.G344A:p.S115N,ENSG00000114107:ENST00000464035:exon5:c.G404A:p.S135N,ENSG00000114107:ENST00000468900:exon5:c.G341A:p.S114N,ENSG00000114107:ENST00000542237:exon5:c.G344A:p.S115N,ENSG00000114107:ENST00000264982:exon6:c.G404A:p.S135N,ENSG00000114107:ENST00000474781:exon6:c.G350A:p.S117N,ENSG00000114107:ENST00000481834:exon6:c.G404A:p.S135N,ENSG00000114107:ENST00000484888:exon6:c.G404A:p.S135N Score=561;Name=lod=255 NA 3q22.3 NA NA NA NA rs1673607 0.68 0.68 0.653 0.690695 0.5338 0.9425 0.7061 0.5923 0.7147 0.54 0.95 0.66 0.6 0.6241 0.95 0.83 T 0.0 B 0.0 B 0.158 N 0.058 P -0.915 N 1.44 T -1.016 T 0.000 T 0.026 -1.048 0.197 -0.474 -0.140 0.029 4.235 -1.047852 NA 0.48 0.551303 0.596957 NA 0.536 NA 6.6241304 998 1 158669662 158669662 G A exonic OR6K2 NA synonymous SNV OR6K2:NM_001005279:exon1:c.C781T:p.L261L exonic ENSG00000196171 NA synonymous SNV ENSG00000196171:ENST00000359610:exon1:c.C781T:p.L261L NA NA 1q23.1 Score=761;Name=V$EVI1_01 NA NA NA rs41273535 0.01 0.01 0.005 0.00419329 0.0189 NA NA 0.0008 0.001 0.02 NA NA NA 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 -0.064655 NA NA 0.013837 0.002497 NA NA NA 6.6238296 998 19 6432213 6432213 T C exonic SLC25A41 NA synonymous SNV SLC25A41:NM_173637:exon2:c.A210G:p.V70V exonic ENSG00000181240 NA synonymous SNV ENSG00000181240:ENST00000321510:exon2:c.A210G:p.V70V,ENSG00000181240:ENST00000458275:exon2:c.A210G:p.V70V,ENSG00000181240:ENST00000597558:exon2:c.A210G:p.V70V Score=415;Name=lod=65 NA 19p13.3 NA NA NA NA rs61748927 0.0041 0.0041 0.001 0.00838658 0.0099 NA 0.0029 0.0008 0.0297 0.01 NA 0.0028 NA 0.0149 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 0.632848 NA NA 0.018354 0.001729 NA NA NA 6.6235126 998 1 9079365 9079365 G A exonic SLC2A7 NA synonymous SNV SLC2A7:NM_207420:exon4:c.C339T:p.I113I exonic ENSG00000197241 NA synonymous SNV ENSG00000197241:ENST00000400906:exon4:c.C339T:p.I113I Score=488;Name=lod=128 NA 1p36.23 NA NA NA NA rs10864379 0.08 0.08 0.072 0.0846645 0.004 0.1885 0.0605 0.1006 0.0562 0.0026 0.18 0.05 0.11 0.0355 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.371362 1.371362 NA 0.004419 0.084884 NA 0.072 NA 6.6227476 998 12 41966699 41966699 A G exonic PDZRN4 NA synonymous SNV PDZRN4:NM_013377:exon8:c.A1344G:p.G448G,PDZRN4:NM_001164595:exon10:c.A2118G:p.G706G exonic ENSG00000165966 NA synonymous SNV ENSG00000165966:ENST00000539469:exon8:c.A1344G:p.G448G,ENSG00000165966:ENST00000298919:exon10:c.A1338G:p.G446G,ENSG00000165966:ENST00000402685:exon10:c.A2118G:p.G706G Score=412;Name=lod=63 NA 12q12 NA NA NA NA rs78683283 0.03 0.03 0.026 0.0279553 0.0139 0.0585 0.0086 0.0378 0.0112 0.01 0.04 0.0028 0.04 0.0159 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 0.095231 NA NA 0.014302 0.04335 NA 0.036 NA 6.6225646 998 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 998 5 112379289 112379289 G A exonic MCC NA synonymous SNV MCC:NM_002387:exon15:c.C2124T:p.A708A,MCC:NM_001085377:exon17:c.C2694T:p.A898A exonic ENSG00000171444 NA synonymous SNV ENSG00000171444:ENST00000302475:exon15:c.C2124T:p.A708A,ENSG00000171444:ENST00000515367:exon15:c.C1935T:p.A645A,ENSG00000171444:ENST00000408903:exon17:c.C2694T:p.A898A NA NA 5q22.2 NA Name=CTCF Name=56 NA rs2227948 0.53 0.53 0.539 NA NA NA NA NA NA 0.51 0.64 0.56 0.43 0.5302 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.775854 NA NA 0.514419 0.435286 NA 0.384 NA 6.6220476 998 20 44691350 44691350 T G exonic NCOA5 NA synonymous SNV NCOA5:NM_020967:exon8:c.A1329C:p.T443T exonic ENSG00000124160 NA synonymous SNV ENSG00000124160:ENST00000290231:exon8:c.A1329C:p.T443T Score=678;Name=lod=759 NA 20q13.12 Score=764;Name=V$MIF1_01 NA NA NA rs1537028 0.41 0.41 0.372 0.398562 0.3479 0.5675 0.4856 0.289 0.363 0.34 0.6 0.41 0.29 0.3724 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.924729 NA NA 0.324419 0.255334 NA 0.399 NA 6.6219476 998 12 69094607 69094607 A G exonic NUP107 NA synonymous SNV NUP107:NM_020401:exon7:c.A654G:p.T218T exonic ENSG00000111581 NA synonymous SNV ENSG00000111581:ENST00000378905:exon6:c.A201G:p.T67T,ENSG00000111581:ENST00000229179:exon7:c.A654G:p.T218T,ENSG00000111581:ENST00000539906:exon7:c.A567G:p.T189T NA NA 12q15 Score=855;Name=V$ARNT_01 NA NA NA rs35589976 0.01 0.01 0.002 0.00738818 0.0179 NA 0.0043 NA 0.0164 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 0.991345 NA NA 0.015349 0.002497 NA NA NA 6.6216176 998 12 69127245 69127245 C T exonic NUP107 NA synonymous SNV NUP107:NM_020401:exon24:c.C2115T:p.H705H exonic ENSG00000111581 NA synonymous SNV ENSG00000111581:ENST00000378905:exon21:c.C1398T:p.H466H,ENSG00000111581:ENST00000229179:exon24:c.C2115T:p.H705H,ENSG00000111581:ENST00000539906:exon24:c.C2028T:p.H676H Score=586;Name=lod=321 NA 12q15 NA NA NA NA rs34342902 0.01 0.01 0.005 0.00738818 0.0179 NA 0.0043 NA 0.0164 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 0.74284 NA NA 0.015349 0.002497 NA NA NA 6.6214176 998 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 998 8 142506461 142506461 A G exonic MROH5 NA unknown UNKNOWN exonic ENSG00000226807 NA nonsynonymous SNV ENSG00000226807:ENST00000521161:exon1:c.T116C:p.L39P NA NA 8q24.3 NA NA NA NA rs2613637 0.61 0.61 0.567 0.615615 0.6978 0.4712 0.7709 0.4834 0.7485 0.69 0.47 0.77 0.52 0.671 0.77 1 T . . . . . . . . -0.345 N . . -0.950 T 0.000 T 0.425 -1.189 0.078 3.49 0.487 1.612 6.700 -1.188761 NA NA 0.677056 0.503685 ID=COSN168449;OCCURENCE=1(large_intestine) 0.674 NA 6.6208107 998 10 105659826 105659826 T C exonic OBFC1 NA nonsynonymous SNV OBFC1:NM_024928:exon5:c.A451G:p.T151A exonic ENSG00000107960 NA nonsynonymous SNV ENSG00000107960:ENST00000369764:exon4:c.A451G:p.T151A,ENSG00000107960:ENST00000224950:exon5:c.A451G:p.T151A NA NA 10q24.33 NA NA NA NA rs2487999 0.87 0.87 0.848 0.873602 0.9085 1 0.9193 0.6415 0.9888 0.91 1 0.9 0.65 0.9072 1 0.53 T 0.0 B 0.001 B 0.501 N 1.000 P 1.01 L 2.01 T -0.971 T 0.000 T 0.062 0.254 5.374 -3.08 -0.730 -1.844 13.759 0.254237 NA 0.74 0.896977 0.677939 NA 0.855 NA 6.6206564 998 10 105657316 105657316 G C exonic OBFC1 NA nonsynonymous SNV OBFC1:NM_024928:exon7:c.C743G:p.S248C exonic ENSG00000107960 NA nonsynonymous SNV ENSG00000107960:ENST00000369764:exon6:c.C743G:p.S248C,ENSG00000107960:ENST00000224950:exon7:c.C743G:p.S248C NA NA 10q24.33 NA Name=CTCF Name=27 NA rs10786775 0.87 0.87 0.855 0.873003 0.9085 1 0.9193 0.6407 0.9867 0.91 1 0.9 0.65 0.9071 1 0.27 T 0.0 B 0.0 B 0.259 N 1.000 P -0.975 N 0.8 T -1.027 T 0.000 T 0.064 -0.914 0.409 1.39 -0.220 -0.328 6.936 -0.914347 NA 0.19 0.897093 0.677939 NA 0.841 NA 6.6206404 998 7 150163837 150163837 A G exonic GIMAP8 NA synonymous SNV GIMAP8:NM_175571:exon2:c.A51G:p.G17G exonic ENSG00000171115 NA synonymous SNV ENSG00000171115:ENST00000307271:exon2:c.A51G:p.G17G NA NA 7q36.1 NA Name=Max Name=26 NA rs2140595 0.36 0.36 0.374 0.322085 0.3708 0.4177 0.2334 0.3086 0.2546 0.36 0.42 0.29 0.35 0.3277 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482798 NA NA 0.347558 0.31616 NA 0.254 NA 6.6206086 998 6 24596478 24596478 T G exonic KIAA0319 NA nonsynonymous SNV KIAA0319:NM_001168376:exon2:c.A289C:p.T97P,KIAA0319:NM_001168375:exon3:c.A424C:p.T142P,KIAA0319:NM_001168377:exon3:c.A424C:p.T142P,KIAA0319:NM_014809:exon3:c.A424C:p.T142P,KIAA0319:NM_001168374:exon4:c.A397C:p.T133P exonic ENSG00000137261 NA nonsynonymous SNV ENSG00000137261:ENST00000430948:exon2:c.A289C:p.T97P,ENSG00000137261:ENST00000378214:exon3:c.A424C:p.T142P,ENSG00000137261:ENST00000537886:exon3:c.A424C:p.T142P,ENSG00000137261:ENST00000543707:exon3:c.A424C:p.T142P,ENSG00000137261:ENST00000535378:exon4:c.A397C:p.T133P Score=259;Name=lod=15 NA 6p22.3 NA NA NA NA rs4576240 0.94 0.94 0.935 0.939896 0.9026 0.9861 0.9395 0.9387 0.9325 0.9 0.98 0.95 0.95 0.9144 0.98 0.32 T 0.0 B 0.0 B 0.036 N 1.000 P -1.04 N 3.42 T -0.917 T 0.002 T 0.149 -2.4 0.003 2.45 0.303 0.597 2.414 -2.399637 NA 0.32 0.895814 0.92079 ID=COSM1685395;OCCURENCE=1(skin) 0.957 NA 6.6205194 998 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 998 11 67209515 67209515 C T exonic CORO1B NA synonymous SNV CORO1B:NM_020441:exon3:c.G246A:p.T82T,CORO1B:NM_001018070:exon4:c.G246A:p.T82T exonic ENSG00000172725 NA synonymous SNV ENSG00000172725:ENST00000341356:exon3:c.G246A:p.T82T,ENSG00000172725:ENST00000453768:exon3:c.G246A:p.T82T,ENSG00000172725:ENST00000537042:exon3:c.G246A:p.T82T,ENSG00000172725:ENST00000545016:exon3:c.G246A:p.T82T,ENSG00000172725:ENST00000393893:exon4:c.G246A:p.T82T NA NA 11q13.2 NA NA Name=4 NA rs111451405 0.04 0.04 NA 0.0443291 0.003 0.0347 0.2622 0.0015 NA 0.004 0.02 0.2 0.0041 0.0401 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.982176 NA NA 0.00326 0.003182 NA 0.022 NA 6.6203066 998 17 79508400 79508400 T C exonic C17orf70 NA nonsynonymous SNV C17orf70:NM_025161:exon8:c.A2449G:p.T817A exonic ENSG00000185504 NA nonsynonymous SNV ENSG00000185504:ENST00000425898:exon4:c.A1396G:p.T466A,ENSG00000185504:ENST00000327787:exon8:c.A2449G:p.T817A,ENSG00000185504:ENST00000537152:exon8:c.A1996G:p.T666A Score=325;Name=lod=28 NA 17q25.3 NA NA NA NA rs14422 0.93 0.93 0.926 0.946486 0.8807 0.999 0.9467 0.9546 0.9489 0.88 1 0.92 0.92 0.9258 1 1 T 0.0 B 0.0 B . . 1.000 P -2.015 N 1.82 T -1.002 T 0.000 T 0.019 -1.688 0.012 2.88 0.423 0.670 7.370 -1.687715 NA 1 0.906679 0.9575 NA 0.942 NA 6.6201544 998 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 998 11 36422792 36422792 G A exonic PRR5L NA nonsynonymous SNV PRR5L:NM_001160169:exon1:c.G121A:p.A41T,PRR5L:NM_001160167:exon2:c.G121A:p.A41T,PRR5L:NM_024841:exon3:c.G121A:p.A41T exonic ENSG00000135362 NA nonsynonymous SNV ENSG00000135362:ENST00000527487:exon1:c.G121A:p.A41T,ENSG00000135362:ENST00000526679:exon2:c.G121A:p.A41T,ENSG00000135362:ENST00000530050:exon2:c.G121A:p.A41T,ENSG00000135362:ENST00000530252:exon2:c.G121A:p.A41T,ENSG00000135362:ENST00000530639:exon2:c.G121A:p.A41T,ENSG00000135362:ENST00000532121:exon2:c.G121A:p.A41T,ENSG00000135362:ENST00000311599:exon3:c.G43A:p.A15T,ENSG00000135362:ENST00000378867:exon3:c.G121A:p.A41T,ENSG00000135362:ENST00000526682:exon3:c.G121A:p.A41T,ENSG00000135362:ENST00000526728:exon3:c.G121A:p.A41T,ENSG00000135362:ENST00000527172:exon3:c.G121A:p.A41T,ENSG00000135362:ENST00000524380:exon4:c.G121A:p.A41T NA NA 11p12 NA NA NA NA rs330261 0.85 0.85 0.84 0.833666 0.9125 0.9673 0.9308 0.5794 0.8896 0.91 0.96 0.93 0.58 0.8907 0.96 0.23 T 0.001 B 0.002 B 0.057 N 1.000 P 0.695 N 1.58 T -0.955 T 0.000 T 0.195 -0.002 4.006 -3.34 -1.622 -0.218 16.527 -0.00159 NA 0.12 0.910191 0.643279 NA 0.833 NA 6.6199424 998 1 3496479 3496479 T C exonic MEGF6 NA nonsynonymous SNV MEGF6:NM_001409:exon4:c.A391G:p.S131G exonic ENSG00000162591 NA nonsynonymous SNV ENSG00000162591:ENST00000356575:exon4:c.A391G:p.S131G NA NA 1p36.32 NA NA NA NA rs2794340 0.85 0.85 0.832 0.852835 0.9155 0.7054 0.8919 0.8691 0.8906 0.91 0.68 0.92 0.88 0.8831 0.92 0.7 T 0.0 B 0.0 B 0.014 N 0.954 P 0.53 N -2.92 D -0.951 T 0.000 T 0.023 -1.895 0.008 4.35 0.847 0.213 8.494 -1.894905 NA 1 0.915998 0.879124 ID=COSM1162425;OCCURENCE=1(pancreas) 0.819 NA 6.6187354 998 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 998 2 182767178 182767178 C G exonic SSFA2 NA synonymous SNV SSFA2:NM_001130445:exon8:c.C1398G:p.S466S,SSFA2:NM_006751:exon8:c.C1398G:p.S466S exonic ENSG00000138434 NA synonymous SNV ENSG00000138434:ENST00000428267:exon7:c.C939G:p.S313S,ENSG00000138434:ENST00000320370:exon8:c.C1398G:p.S466S,ENSG00000138434:ENST00000409001:exon8:c.C1398G:p.S466S,ENSG00000138434:ENST00000431877:exon8:c.C1398G:p.S466S Score=543;Name=lod=214 NA 2q31.3 NA NA NA NA rs34087767 0.01 0.01 0.006 0.0061901 0.0189 NA 0.0173 NA NA 0.02 NA 0.02 NA 0.0124 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 0.755563 NA NA 0.01803 0.003872 NA 0.007 NA 6.6173366 998 15 45545478 45545478 C T exonic SLC28A2 NA nonsynonymous SNV SLC28A2:NM_004212:exon2:c.C65T:p.P22L exonic ENSG00000137860 NA nonsynonymous SNV ENSG00000137860:ENST00000347644:exon2:c.C65T:p.P22L NA NA 15q21.1 NA NA NA NA rs11854484 0.33 0.33 0.317 0.302915 0.6123 0.1052 0.3775 0.1059 0.4018 0.63 0.06 0.41 0.13 0.4753 0.63 0.31 T 0.001 B 0.001 B 0.125 N 1.000 P 0.895 L 4.82 T -1.040 T 0.000 T 0.124 1.399 10.61 -0.812 0.028 -1.438 1.501 1.399257 1.399257 0.34 0.628432 0.191083 NA 0.399 NA 6.6173014 998 11 133814191 133814191 A G exonic IGSF9B NA synonymous SNV IGSF9B:NM_001277285:exon3:c.T333C:p.Y111Y exonic ENSG00000080854 NA synonymous SNV ENSG00000080854:ENST00000533160:exon2:c.T303C:p.Y101Y,ENSG00000080854:ENST00000321016:exon3:c.T333C:p.Y111Y,ENSG00000080854:ENST00000526663:exon3:c.T474C:p.Y158Y,ENSG00000080854:ENST00000533871:exon3:c.T333C:p.Y111Y Score=676;Name=lod=743 NA 11q25 Score=808;Name=V$HNF4_01 NA NA Score=142;Name=489594_0_-_142 rs595986 0.52 0.52 0.488 0.488019 0.7117 0.4028 0.5389 0.2602 0.6176 0.7 0.43 0.59 0.29 0.6232 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.120536 NA NA 0.71525 0.360726 NA 0.594 NA 6.6165166 998 15 89169858 89169858 A G exonic AEN NA nonsynonymous SNV AEN:NM_022767:exon2:c.A418G:p.N140D exonic ENSG00000181026 NA nonsynonymous SNV ENSG00000181026:ENST00000332810:exon2:c.A418G:p.N140D,ENSG00000181026:ENST00000379231:exon2:c.A418G:p.N140D,ENSG00000181026:ENST00000559528:exon2:c.A418G:p.N140D NA NA 15q26.1 NA NA NA NA rs8027765 0.78 0.78 0.781 0.758387 0.9235 0.754 0.7795 0.5575 0.8497 0.92 0.77 0.8 0.54 0.8602 0.93 1 T 0.0 B 0.002 B 0.085 N 1.000 P -0.46 N 1.61 T -0.956 T 0.000 T 0.001 -0.588 1.365 4.4 0.628 2.021 10.362 -0.587796 NA 1 0.933124 0.580455 NA 0.862 NA 6.6165094 998 4 183713573 183713573 C T exonic TENM3 NA synonymous SNV TENM3:NM_001080477:exon25:c.C5748T:p.N1916N exonic ENSG00000218336 NA synonymous SNV ENSG00000218336:ENST00000406950:exon25:c.C5748T:p.N1916N,ENSG00000218336:ENST00000511685:exon26:c.C5748T:p.N1916N Score=530;Name=lod=190 NA 4q35.1 NA NA NA NA rs80197208 0.01 0.01 0.004 0.00439297 0.0179 NA 0.0058 NA NA 0.02 NA 0.01 0.002 0.0132 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 0.005233 NA NA 0.019784 0.003215 NA 0.022 NA 6.6157826 998 15 22846932 22846932 G A exonic TUBGCP5 NA synonymous SNV TUBGCP5:NM_001102610:exon8:c.G807A:p.Q269Q,TUBGCP5:NM_052903:exon8:c.G807A:p.Q269Q exonic ENSG00000153575 NA synonymous SNV ENSG00000153575:ENST00000283645:exon8:c.G807A:p.Q269Q,ENSG00000153575:ENST00000453949:exon8:c.G807A:p.Q269Q Score=446;Name=lod=87 NA 15q11.2 NA NA NA NA rs118137061 0.01 0.01 0.004 0.00898562 0.0129 NA 0.0101 0.0008 0.0245 0.01 NA 0.01 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 0.972509 NA NA 0.020698 0.002951 NA NA NA 6.6151686 998 10 81928830 81928830 G A exonic ANXA11 NA synonymous SNV ANXA11:NM_001157:exon4:c.C456T:p.Y152Y,ANXA11:NM_145868:exon5:c.C456T:p.Y152Y,ANXA11:NM_145869:exon6:c.C456T:p.Y152Y exonic ENSG00000122359 NA synonymous SNV ENSG00000122359:ENST00000265447:exon4:c.C456T:p.Y152Y,ENSG00000122359:ENST00000372231:exon4:c.C456T:p.Y152Y,ENSG00000122359:ENST00000360615:exon5:c.C456T:p.Y152Y,ENSG00000122359:ENST00000422982:exon5:c.C456T:p.Y152Y,ENSG00000122359:ENST00000438331:exon6:c.C456T:p.Y152Y,ENSG00000122359:ENST00000535999:exon6:c.C456T:p.Y152Y,ENSG00000122359:ENST00000537102:exon6:c.C357T:p.Y119Y Score=387;Name=lod=50 NA 10q22.3 NA NA NA NA rs34003188 0.01 0.01 0.004 0.00878594 0.0169 NA 0.0072 0.0015 0.0204 0.02 NA 0.01 NA 0.0159 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 -0.211339 NA NA 0.018743 0.002963 NA NA NA 6.6151236 999 3 196388023 196388023 C G exonic LRRC33 NA synonymous SNV LRRC33:NM_198565:exon3:c.C1509G:p.L503L exonic ENSG00000174004 NA synonymous SNV ENSG00000174004:ENST00000328557:exon3:c.C1509G:p.L503L NA NA 3q29 Score=810;Name=V$SREBP1_02 NA NA NA rs62636585 0.01 0.01 0.003 0.00539137 0.0159 NA 0.0115 0.0015 0.001 0.02 NA 0.02 0.002 0.0137 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.286094 NA NA 0.022093 0.005901 NA NA NA 6.6149736 999 15 22853808 22853808 C T exonic TUBGCP5 NA synonymous SNV TUBGCP5:NM_001102610:exon12:c.C1446T:p.H482H,TUBGCP5:NM_052903:exon12:c.C1446T:p.H482H exonic ENSG00000153575 NA synonymous SNV ENSG00000153575:ENST00000283645:exon12:c.C1446T:p.H482H,ENSG00000153575:ENST00000453949:exon12:c.C1446T:p.H482H NA NA 15q11.2 Score=807;Name=V$CDPCR3_01 NA NA NA rs142094970 0.01 0.01 NA 0.00898562 0.0129 NA 0.0101 0.0008 0.0245 0.01 NA 0.01 NA 0.0184 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 -0.459961 NA NA 0.020814 0.002951 NA NA NA 6.6145526 999 19 13445208 13445208 C T exonic CACNA1A NA synonymous SNV CACNA1A:NM_001127221:exon8:c.G1182A:p.E394E,CACNA1A:NM_001127222:exon8:c.G1182A:p.E394E exonic ENSG00000141837 NA synonymous SNV ENSG00000141837:ENST00000360228:exon8:c.G1182A:p.E394E,ENSG00000141837:ENST00000573710:exon8:c.G1182A:p.E394E Score=681;Name=lod=784 NA 19p13.2 Score=888;Name=V$YY1_01 NA NA NA rs2248069 0.63 0.63 0.609 0.641174 0.6789 0.6339 0.7767 0.4758 0.7372 0.66 0.64 0.76 0.47 0.6857 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 0.981839 NA NA 0.687893 0.548673 NA 0.674 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079475.3;CLNDSDB=.;CLNDSDBID=. 6.6141736 999 6 11190215 11190215 G A exonic NEDD9 NA synonymous SNV NEDD9:NM_001271033:exon4:c.C1440T:p.Y480Y,NEDD9:NM_006403:exon5:c.C1887T:p.Y629Y,NEDD9:NM_001142393:exon6:c.C1887T:p.Y629Y exonic ENSG00000111859 NA synonymous SNV ENSG00000111859:ENST00000379446:exon5:c.C1887T:p.Y629Y,ENSG00000111859:ENST00000504387:exon6:c.C1887T:p.Y629Y Score=578;Name=lod=299 NA 6p24.2 NA NA NA NA rs35719173 0.01 0.01 0.004 0.0081869 0.0139 NA 0.0058 0.0045 0.0174 0.01 NA 0.01 0.002 0.0174 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 0.353575 NA NA 0.021512 0.003404 NA NA NA 6.6138546 999 2 232458443 232458443 T C exonic C2orf57 NA nonsynonymous SNV C2orf57:NM_152614:exon1:c.T781C:p.S261P exonic ENSG00000177673 NA nonsynonymous SNV ENSG00000177673:ENST00000313965:exon1:c.T781C:p.S261P NA NA 2q37.1 NA NA NA NA rs10933378 0.94 0.94 0.921 0.928315 0.8917 0.997 0.9308 0.9274 0.8947 0.9 1 0.93 0.93 0.9209 1 0.82 T 0.001 B 0.004 B 0.746 N 1.000 P 0.145 N 2.05 T -1.003 T 0.000 T 0.039 1.173 9.774 -6.39 -1.642 -0.938 2.722 1.17346 NA 0.42 0.907209 0.930776 NA 0.87 NA 6.6135244 999 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 999 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 999 1 226019500 226019500 T C exonic EPHX1 NA synonymous SNV EPHX1:NM_000120:exon3:c.T204C:p.D68D,EPHX1:NM_001136018:exon3:c.T204C:p.D68D exonic ENSG00000143819 NA synonymous SNV ENSG00000143819:ENST00000272167:exon3:c.T204C:p.D68D,ENSG00000143819:ENST00000366837:exon3:c.T204C:p.D68D,ENSG00000143819:ENST00000445856:exon3:c.T204C:p.D68D,ENSG00000143819:ENST00000448202:exon3:c.T204C:p.D68D NA NA 1q42.12 Score=833;Name=V$CDP_02 NA NA NA rs2234698 0.01 0.01 0.002 0.00658946 0.0229 NA 0.0101 0.0015 0.001 0.03 NA 0.01 0.002 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 1.448441 1.448441 NA 0.018953 0.003177 NA 0.014 NA 6.6129136 999 2 88396123 88396123 C G exonic SMYD1 NA synonymous SNV SMYD1:NM_198274:exon6:c.C708G:p.L236L exonic ENSG00000115593 NA synonymous SNV ENSG00000115593:ENST00000444564:exon5:c.C669G:p.L223L,ENSG00000115593:ENST00000419482:exon6:c.C708G:p.L236L Score=551;Name=lod=232 NA 2p11.2 Score=789;Name=V$ARP1_01 NA NA NA rs2970912 0.31 0.31 0.298 0.313898 0.3559 0.1627 0.2579 0.4244 0.317 0.35 0.17 0.3 0.43 0.3358 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.823911 NA NA 0.364419 0.405129 NA 0.413 NA 6.6105476 999 13 99948178 99948178 C A exonic GPR183 NA synonymous SNV GPR183:NM_004951:exon2:c.G222T:p.V74V exonic ENSG00000169508 NA synonymous SNV ENSG00000169508:ENST00000376414:exon2:c.G222T:p.V74V Score=603;Name=lod=375 NA 13q32.3 NA NA Name=2 NA rs2230342 0.27 0.27 0.274 0.256789 0.3748 0.1875 0.2421 0.2103 0.2802 0.35 0.2 0.28 0.2 0.308 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.642609 NA NA 0.373372 0.24512 NA 0.246 NA 6.6104946 999 8 13356819 13356819 T G exonic DLC1 NA nonsynonymous SNV DLC1:NM_024767:exon2:c.A762C:p.Q254H,DLC1:NM_182643:exon2:c.A762C:p.Q254H exonic ENSG00000164741 NA nonsynonymous SNV ENSG00000164741:ENST00000276297:exon2:c.A762C:p.Q254H,ENSG00000164741:ENST00000316609:exon2:c.A762C:p.Q254H,ENSG00000164741:ENST00000511869:exon2:c.A762C:p.Q254H NA NA 8p22 NA NA Name=13 NA rs11203495 0.66 0.66 0.748 0.758387 0.9374 0.6121 0.7248 0.6808 0.8538 0.79 0.54 0.73 0.53 0.8558 0.93 0.24 T 0.005 B 0.007 B 0.548 N 1.000 P 1.445 L 3.38 T -1.018 T 0.000 T 0.154 -0.039 3.813 -5.59 -0.824 -0.435 1.591 -0.039264 NA 0.35 0.929884 0.736496 NA NA NA 6.6102494 999 2 88396120 88396120 G A exonic SMYD1 NA synonymous SNV SMYD1:NM_198274:exon6:c.G705A:p.E235E exonic ENSG00000115593 NA synonymous SNV ENSG00000115593:ENST00000444564:exon5:c.G666A:p.E222E,ENSG00000115593:ENST00000419482:exon6:c.G705A:p.E235E Score=551;Name=lod=232 NA 2p11.2 Score=789;Name=V$ARP1_01 NA NA NA rs2919882 0.31 0.31 0.291 0.313898 0.3559 0.1627 0.2579 0.4244 0.317 0.35 0.17 0.3 0.43 0.3364 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732231 NA NA 0.364186 0.405129 NA 0.413 NA 6.6101806 999 15 59347929 59347929 C A exonic RNF111 NA synonymous SNV RNF111:NM_001270528:exon4:c.C1056A:p.S352S,RNF111:NM_001270529:exon4:c.C1056A:p.S352S,RNF111:NM_001270530:exon4:c.C1056A:p.S352S,RNF111:NM_017610:exon4:c.C1056A:p.S352S exonic ENSG00000157450 NA synonymous SNV ENSG00000157450:ENST00000559592:exon3:c.C255A:p.S85S,ENSG00000157450:ENST00000561186:exon3:c.C1056A:p.S352S,ENSG00000157450:ENST00000348370:exon4:c.C1056A:p.S352S,ENSG00000157450:ENST00000434298:exon4:c.C1056A:p.S352S,ENSG00000157450:ENST00000557998:exon4:c.C1056A:p.S352S,ENSG00000157450:ENST00000559209:exon4:c.C1056A:p.S352S Score=512;Name=lod=160 NA 15q22.2 Score=864;Name=V$COUP_01 NA NA NA rs1446239 0.45 0.45 0.455 0.441693 0.3161 0.4405 0.4986 0.6611 0.2352 0.32 0.43 0.47 0.66 0.3893 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 1.308004 1.308004 NA 0.351433 0.621122 ID=COSM1179762,COSM1179761;OCCURENCE=1(prostate),1(large_intestine) 0.5 NA 6.6098336 999 14 64612845 64612845 C T exonic SYNE2 NA synonymous SNV SYNE2:NM_015180:exon84:c.C15543T:p.I5181I,SYNE2:NM_182914:exon84:c.C15543T:p.I5181I exonic ENSG00000054654 NA synonymous SNV ENSG00000054654:ENST00000555612:exon4:c.C429T:p.I143I,ENSG00000054654:ENST00000394768:exon32:c.C4698T:p.I1566I,ENSG00000054654:ENST00000555002:exon35:c.C5445T:p.I1815I,ENSG00000054654:ENST00000554584:exon82:c.C15294T:p.I5098I,ENSG00000054654:ENST00000344113:exon84:c.C15543T:p.I5181I,ENSG00000054654:ENST00000358025:exon84:c.C15543T:p.I5181I,ENSG00000054654:ENST00000357395:exon85:c.C4698T:p.I1566I Score=491;Name=lod=132 NA 14q23.2 NA NA NA NA rs11629287 0.45 0.45 0.448 0.441893 0.3469 0.504 0.3977 0.5726 0.3303 0.34 0.51 0.39 0.58 0.3709 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091853 NA NA 0.339302 0.538584 ID=COSM1128227;OCCURENCE=1(prostate) 0.37 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118519.1;CLNDSDB=.;CLNDSDBID=. 6.6095646 999 2 238234285 238234285 A G exonic COL6A3 NA synonymous SNV COL6A3:NM_057166:exon40:c.T7590C:p.C2530C,COL6A3:NM_057167:exon42:c.T8793C:p.C2931C,COL6A3:NM_004369:exon43:c.T9411C:p.C3137C exonic ENSG00000163359 NA synonymous SNV ENSG00000163359:ENST00000472056:exon40:c.T7590C:p.C2530C,ENSG00000163359:ENST00000409809:exon41:c.T8793C:p.C2931C,ENSG00000163359:ENST00000346358:exon42:c.T8811C:p.C2937C,ENSG00000163359:ENST00000347401:exon42:c.T8808C:p.C2936C,ENSG00000163359:ENST00000353578:exon42:c.T8793C:p.C2931C,ENSG00000163359:ENST00000295550:exon43:c.T9411C:p.C3137C NA NA 2q37.3 NA NA NA NA rs112290343 0.01 0.01 0.008 0.0103834 0.0229 NA 0.0317 0.0015 0.0051 0.02 NA 0.04 0.0041 0.0127 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 0.350104 NA NA 0.021744 0.003177 NA 0.007 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081026.2;CLNDSDB=.;CLNDSDBID=. 6.6093226 999 9 139252603 139252603 C T exonic GPSM1 NA synonymous SNV GPSM1:NM_001145639:exon4:c.C432T:p.A144A,GPSM1:NM_001200003:exon4:c.C432T:p.A144A,GPSM1:NM_001145638:exon14:c.C1959T:p.A653A exonic ENSG00000160360 NA synonymous SNV ENSG00000160360:ENST00000291775:exon3:c.C432T:p.A144A,ENSG00000160360:ENST00000392944:exon4:c.C432T:p.A144A,ENSG00000160360:ENST00000429455:exon4:c.C432T:p.A144A,ENSG00000160360:ENST00000354753:exon13:c.C1890T:p.A630A,ENSG00000160360:ENST00000440944:exon14:c.C1959T:p.A653A Score=624;Name=lod=460 NA 9q34.3 NA NA NA NA rs139501733 0.01 0.01 0.005 0.0115815 0.0139 0.001 0.0058 NA 0.0399 0.01 NA 0.0028 NA 0.0268 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 1.161392 NA NA 0.016764 0.002967 NA NA NA 6.6092026 999 2 103317676 103317676 A G exonic SLC9A2 NA synonymous SNV SLC9A2:NM_003048:exon8:c.A1734G:p.T578T exonic ENSG00000115616 NA synonymous SNV ENSG00000115616:ENST00000233969:exon8:c.A1734G:p.T578T NA NA 2q12.1 Score=876;Name=V$OCT_C NA NA NA rs17776702 0.01 0.01 0.006 0.0061901 0.0209 NA 0.013 NA 0.001 0.02 NA 0.01 NA 0.0143 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 -1.21747 NA NA 0.022558 0.003631 NA NA NA 6.6089086 999 9 139929152 139929152 G A exonic C9orf139 NA synonymous SNV C9orf139:NM_207511:exon3:c.G219A:p.R73R exonic ENSG00000180539 NA synonymous SNV ENSG00000180539:ENST00000314330:exon3:c.G219A:p.R73R NA NA 9q34.3 NA NA Name=10 NA rs41309978 0.01 0.01 0.006 0.00758786 0.0318 NA 0.0029 NA 0.0041 0.04 NA 0.0028 NA 0.0131 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 0.520118 NA NA 0.013051 0.00159 NA NA NA 6.6087156 999 17 16344601 16344601 G C ncRNA_exonic SNORD65 NA NA NA ncRNA_exonic ENSG00000175061 NA NA NA Score=399;Name=lod=56 NA 17p11.2 NA Name=Pol2,HEY1 Name=40 NA rs4622550 0.31 0.31 0.289 0.279952 0.3569 0.2212 0.3372 0.2867 0.2117 0.34 0.23 0.37 0.3 0.3281 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.964724 2.964724 NA 0.373179 0.304224 NA NA NA 6.6084876 999 8 17422481 17422481 T C exonic SLC7A2 NA synonymous SNV SLC7A2:NM_001008539:exon12:c.T1803C:p.Y601Y,SLC7A2:NM_001164771:exon12:c.T1923C:p.Y641Y,SLC7A2:NM_003046:exon12:c.T1920C:p.Y640Y exonic ENSG00000003989 NA synonymous SNV ENSG00000003989:ENST00000004531:exon12:c.T1923C:p.Y641Y,ENSG00000003989:ENST00000398090:exon12:c.T1920C:p.Y640Y,ENSG00000003989:ENST00000522656:exon12:c.T1803C:p.Y601Y,ENSG00000003989:ENST00000494857:exon13:c.T1803C:p.Y601Y,ENSG00000003989:ENST00000470360:exon14:c.T1920C:p.Y640Y Score=557;Name=lod=245 NA 8p22 NA NA NA NA rs55755124 0.02 0.02 0.021 0.0191693 0.0099 0.0496 0.0144 0.0053 0.0194 0.01 0.05 0.02 0.01 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 0.990084 NA NA 0.027791 0.01044 NA 0.014 NA 6.6084756 999 19 12924157 12924157 C T exonic RNASEH2A NA synonymous SNV RNASEH2A:NM_006397:exon8:c.C777T:p.S259S exonic ENSG00000104889 NA synonymous SNV ENSG00000104889:ENST00000221486:exon8:c.C777T:p.S259S NA NA 19p13.2 NA Name=ZNF263 NA NA rs76634951 0.02 0.02 0.018 0.0217652 0.0139 0.0119 0.062 0.0197 0.0143 0.02 0.02 0.05 0.01 0.0268 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 -0.311232 NA NA 0.017791 0.017249 NA 0.014 NA 6.6081756 999 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 999 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 999 18 22804549 22804549 G C exonic ZNF521 NA synonymous SNV ZNF521:NM_015461:exon4:c.C3333G:p.P1111P exonic ENSG00000198795 NA synonymous SNV ENSG00000198795:ENST00000584787:exon3:c.C2673G:p.P891P,ENSG00000198795:ENST00000361524:exon4:c.C3333G:p.P1111P,ENSG00000198795:ENST00000399425:exon4:c.C3333G:p.P1111P,ENSG00000198795:ENST00000538137:exon4:c.C3333G:p.P1111P Score=361;Name=lod=39 NA 18q11.2 NA NA NA NA rs34380309 0.01 0.01 0.007 0.0125799 0.0179 0.002 0.0144 NA 0.0337 0.02 0.0017 0.02 NA 0.0199 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 -0.116776 NA NA 0.021395 0.004993 NA NA NA 6.6074716 999 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 999 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 999 18 74627613 74627613 G A exonic ZNF236 NA synonymous SNV ZNF236:NM_007345:exon19:c.G3066A:p.A1022A exonic ENSG00000130856 NA synonymous SNV ENSG00000130856:ENST00000253159:exon19:c.G3066A:p.A1022A,ENSG00000130856:ENST00000320610:exon19:c.G3072A:p.A1024A,ENSG00000130856:ENST00000543926:exon19:c.G3066A:p.A1022A Score=403;Name=lod=58 NA 18q23 NA NA NA NA rs34208338 0.02 0.02 0.022 0.0121805 0.0258 0.0129 0.0245 0.0015 0.0031 0.02 0.02 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 -0.57177 NA NA 0.017963 0.003215 NA 0.014 NA 6.6063036 999 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 999 7 16834551 16834551 C A intronic AGR2 NA NA NA exonic ENSG00000106541 NA nonsynonymous SNV ENSG00000106541:ENST00000450569:exon4:c.G277T:p.D93Y,ENSG00000106541:ENST00000401412:exon7:c.G487T:p.D163Y NA NA 7p21.1 NA NA NA NA rs4719480 0.9 0.9 0.897 0.916334 0.8429 0.9633 0.9121 0.916 0.9468 0.83 0.96 0.91 0.92 0.869 0.96 0.01 D . . . . . . 1.000 P . . . . -1.026 T 0.000 T 0.081 1.707 11.67 -9.8 -2.124 -0.505 10.393 1.707287 1.707287 0.01 0.848605 0.909896 NA 0.935 NA 6.6061617 999 1 158612236 158612236 A G exonic SPTA1 NA nonsynonymous SNV SPTA1:NM_003126:exon33:c.T4702C:p.C1568R exonic ENSG00000163554 NA nonsynonymous SNV ENSG00000163554:ENST00000368147:exon33:c.T4702C:p.C1568R,ENSG00000163554:ENST00000368148:exon33:c.T4702C:p.C1568R NA NA 1q23.1 Score=815;Name=V$GFI1_01 NA NA NA rs863931 0.62 0.62 0.61 0.59405 0.5865 0.6359 0.5605 0.6853 0.4591 0.6 0.61 0.55 0.74 0.5789 0.74 0.69 T 0.0 B 0.0 B 0.009 N 0.997 P -1.845 N 0.87 T -0.946 T 0.008 T 0.08 -2.205 0.005 1.01 0.084 0.863 10.075 -2.205016 NA 1 0.562095 0.678445 NA 0.623 NA 6.6058384 999 1 35562965 35562965 G A exonic ZMYM1 NA nonsynonymous SNV ZMYM1:NM_024772:exon4:c.G217A:p.V73M exonic ENSG00000197056 NA nonsynonymous SNV ENSG00000197056:ENST00000359858:exon4:c.G217A:p.V73M,ENSG00000197056:ENST00000373330:exon5:c.G217A:p.V73M,ENSG00000197056:ENST00000417119:exon5:c.G217A:p.V73M Score=552;Name=lod=233 NA 1p34.3 NA NA Name=49 NA rs2971408 0.83 0.83 0.845 0.829073 0.9215 0.7411 0.7392 0.8018 0.9254 0.93 0.73 0.8 0.83 0.8804 0.93 0.29 T 0.001 B 0.001 B 0.023 N 0.000 P -1.59 N 2.54 T -1.052 T 0.000 T 0.181 0.848 8.426 -0.077 -0.356 0.014 6.658 0.847582 NA 0.51 0.925622 0.831903 NA 0.87 NA 6.6058114 999 2 220285666 220285666 G C exonic DES NA synonymous SNV DES:NM_001927:exon5:c.G1014C:p.L338L exonic ENSG00000175084 NA synonymous SNV ENSG00000175084:ENST00000373960:exon5:c.G1014C:p.L338L Score=590;Name=lod=333 NA 2q35 NA NA NA NA rs12920 0.35 0.35 0.337 0.33766 0.3648 0.1835 0.3444 0.475 0.2781 0.36 0.2 0.38 0.47 0.3414 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.860797 NA NA 0.355116 0.448025 NA 0.275 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000037222.3;CLNDSDB=.;CLNDSDBID=. 6.6053506 1000 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 1000 14 20872881 20872881 G T exonic TEP1 NA nonsynonymous SNV TEP1:NM_007110:exon5:c.C921A:p.N307K exonic ENSG00000129566 NA nonsynonymous SNV ENSG00000129566:ENST00000262715:exon5:c.C921A:p.N307K,ENSG00000129566:ENST00000555727:exon5:c.C921A:p.N307K NA NA 14q11.2 NA NA NA NA rs1760898 0.34 0.34 0.326 0.364816 0.2247 0.4167 0.2781 0.4894 0.3487 0.24 0.39 0.29 0.47 0.2872 0.47 0.69 T 0.0 B 0.0 B 0.979 N 1.000 P -1.04 N 2.54 T -0.926 T 0.000 T 0.091 1.238 10.03 -0.961 -0.293 0.083 2.53 1.237915 1.237915 0.58 0.21686 0.45143 NA 0.29 NA 6.6045734 1000 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 1000 20 61468571 61468571 T C exonic COL9A3 NA synonymous SNV COL9A3:NM_001853:exon30:c.T1740C:p.P580P exonic ENSG00000092758 NA synonymous SNV ENSG00000092758:ENST00000343916:exon30:c.T1740C:p.P580P Score=491;Name=lod=132 NA 20q13.33 Score=792;Name=V$PAX5_02 NA NA Score=100;Name=1450271_0_+_100 rs2294995 0.73 0.73 0.704 0.709864 0.6938 0.5883 0.6744 0.969 0.5266 0.69 0.59 0.69 0.96 0.6869 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.760213 NA NA 0.682379 0.924704 NA 0.746 NA 6.6035876 1000 2 97526963 97526963 C T exonic SEMA4C NA synonymous SNV SEMA4C:NM_017789:exon15:c.G1902A:p.A634A exonic ENSG00000168758 NA synonymous SNV ENSG00000168758:ENST00000305476:exon15:c.G1902A:p.A634A NA NA 2q11.2 Score=815;Name=V$HNF4_01 NA NA NA rs71427097 0.01 0.01 NA 0.00499201 0.0189 NA 0.0072 NA 0.001 0.02 NA 0.01 NA 0.0196 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 -0.257065 NA NA 0.024661 0.003896 NA 0.051 NA 6.6035056 1000 13 95264604 95264604 C T exonic GPR180 NA synonymous SNV GPR180:NM_180989:exon3:c.C465T:p.A155A exonic ENSG00000152749 NA synonymous SNV ENSG00000152749:ENST00000376958:exon3:c.C465T:p.A155A Score=592;Name=lod=340 NA 13q32.1 NA NA Name=2 NA rs9524559 0.29 0.29 0.279 0.279952 0.3539 0.3194 0.2478 0.1672 0.3384 0.35 0.3 0.28 0.19 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 1.179218 NA NA 0.377791 0.194961 NA 0.355 NA 6.6034756 1000 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 1000 1 236767330 236767330 A G exonic HEATR1 NA synonymous SNV HEATR1:NM_018072:exon2:c.T66C:p.S22S exonic ENSG00000119285 NA synonymous SNV ENSG00000119285:ENST00000366579:exon2:c.T66C:p.S22S,ENSG00000119285:ENST00000366581:exon2:c.T66C:p.S22S,ENSG00000119285:ENST00000366582:exon2:c.T66C:p.S22S NA NA 1q43 Score=884;Name=V$GATA1_02 Name=GATA-1 Name=33 NA rs10802551 0.63 0.63 0.588 0.583267 0.6928 0.752 0.7205 0.329 0.5429 0.68 0.76 0.69 0.35 0.6658 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.451784 1.451784 NA 0.705233 0.398547 NA 0.616 NA 6.6028336 1000 19 55738634 55738634 T C exonic TMEM86B NA nonsynonymous SNV TMEM86B:NM_173804:exon3:c.A596G:p.H199R exonic ENSG00000180089 NA nonsynonymous SNV ENSG00000180089:ENST00000327042:exon3:c.A596G:p.H199R Score=458;Name=lod=97 NA 19q13.42 NA NA NA NA rs4644955 0.94 0.94 0.942 0.915136 0.9125 0.878 0.9582 0.9939 0.819 0.91 0.92 0.94 0.99 0.914 0.99 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.385 N 2.17 T -0.995 T 0.000 T 0.072 -1.855 0.009 -0.279 -0.368 1.068 7.370 -1.855128 NA 0.01 0.904839 0.980401 NA 0.971 NA 6.6019944 1000 10 105362104 105362104 G A exonic SH3PXD2A NA synonymous SNV SH3PXD2A:NM_014631:exon14:c.C2787T:p.F929F exonic ENSG00000107957 NA synonymous SNV ENSG00000107957:ENST00000538130:exon9:c.C2376T:p.F792F,ENSG00000107957:ENST00000540321:exon9:c.C2472T:p.F824F,ENSG00000107957:ENST00000355946:exon14:c.C2787T:p.F929F,ENSG00000107957:ENST00000369774:exon15:c.C2871T:p.F957F NA NA 10q24.33 Score=870;Name=V$CEBP_C NA NA NA rs11191741 0.28 0.28 0.255 0.323083 0.3519 0.3502 0.3559 0.1067 0.5348 0.34 0.28 0.34 0.12 0.3597 0.35 . . . . . . . . 0.000 P . . . . -0.963 T 0.000 T . -1.849 0.009 1.13 -0.041 0.484 8.624 -1.848781 NA NA 0.354186 0.155697 ID=COSM1287882;OCCURENCE=1(autonomic_ganglia) 0.232 NA 6.6008806 1000 11 118534082 118534082 C T exonic TREH NA unknown UNKNOWN exonic ENSG00000118094 NA synonymous SNV ENSG00000118094:ENST00000264029:exon2:c.G156A:p.K52K,ENSG00000118094:ENST00000397925:exon2:c.G156A:p.K52K,ENSG00000118094:ENST00000525958:exon2:c.G156A:p.K52K,ENSG00000118094:ENST00000529101:exon2:c.G156A:p.K52K Score=483;Name=lod=123 NA 11q23.3 NA NA Name=5 NA rs10790256 0.17 0.17 0.165 0.197085 0.2137 0.2262 0.196 0.0318 0.3742 0.18 0.24 0.22 0.05 0.3077 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.068223 NA NA 0.211607 0.058287 NA 0.188 NA 6.6003263 1000 17 3828702 3828702 T C exonic ATP2A3 NA synonymous SNV ATP2A3:NM_174955:exon22:c.A3102G:p.R1034R exonic ENSG00000074370 NA synonymous SNV ENSG00000074370:ENST00000572116:exon5:c.A399G:p.R133R,ENSG00000074370:ENST00000352011:exon22:c.A3102G:p.R1034R,ENSG00000074370:ENST00000397039:exon22:c.A624G:p.R208R Score=278;Name=lod=18 NA 17p13.2 Score=825;Name=V$NFKB_Q6 NA NA NA rs887387 0.32 0.32 0.31 0.286342 0.335 0.2857 0.4424 0.1823 0.2669 0.35 0.31 0.42 0.19 0.352 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.572977 NA NA 0.379884 0.22197 NA 0.312 NA 6.5997826 1000 15 101109683 101109683 T C exonic LINS NA synonymous SNV LINS:NM_001040616:exon7:c.A2034G:p.P678P exonic ENSG00000140471 NA synonymous SNV ENSG00000140471:ENST00000314742:exon7:c.A2034G:p.P678P NA NA 15q26.3 NA NA Name=12 NA rs1047320 0.02 0.02 0.014 0.00898562 0.0258 NA 0.0216 0.0015 0.002 0.03 NA 0.03 0.0041 0.0165 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 1.173005 NA NA 0.025465 0.003631 NA 0.014 NA 6.5989016 1000 6 51720838 51720838 T C exonic PKHD1 NA synonymous SNV PKHD1:NM_138694:exon49:c.A7764G:p.L2588L,PKHD1:NM_170724:exon49:c.A7764G:p.L2588L exonic ENSG00000170927 NA synonymous SNV ENSG00000170927:ENST00000340994:exon49:c.A7764G:p.L2588L,ENSG00000170927:ENST00000371117:exon49:c.A7764G:p.L2588L Score=313;Name=lod=25 NA 6p12.3 NA NA NA NA rs9349603 0.52 0.52 0.493 0.538938 0.3191 0.8383 0.5634 0.4523 0.5562 0.34 0.84 0.49 0.47 0.4339 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 0.62912 NA NA 0.315 0.431911 NA 0.428 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082573.1;CLNDSDB=.;CLNDSDBID=. 6.5986666 1000 19 1011894 1011894 G A exonic TMEM259 NA synonymous SNV TMEM259:NM_001033026:exon6:c.C939T:p.I313I,TMEM259:NM_033420:exon6:c.C939T:p.I313I exonic ENSG00000182087 NA synonymous SNV ENSG00000182087:ENST00000593068:exon2:c.C150T:p.I50I,ENSG00000182087:ENST00000607316:exon4:c.C432T:p.I144I,ENSG00000182087:ENST00000333175:exon6:c.C939T:p.I313I,ENSG00000182087:ENST00000356663:exon6:c.C939T:p.I313I Score=493;Name=lod=134 NA 19p13.3 NA NA NA NA rs73497158 0.04 0.04 0.039 0.0443291 0.0179 NA 0.013 0.112 0.0481 0.02 NA 0.02 0.11 0.0314 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 1.128766 NA NA 0.018773 0.111719 NA 0.036 NA 6.5985936 1000 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 1000 12 110927882 110927882 A G exonic FAM216A NA synonymous SNV FAM216A:NM_013300:exon7:c.A762G:p.L254L exonic ENSG00000204856 NA synonymous SNV ENSG00000204856:ENST00000377673:exon7:c.A762G:p.L254L Score=536;Name=lod=201 NA 12q24.11 NA NA NA NA rs17851852 0.02 0.02 0.01 0.0103834 0.0249 NA 0.0202 0.0038 0.0082 0.03 NA 0.02 0.01 0.0207 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 0.858377 NA NA 0.023023 0.004085 NA 0.036 NA 6.5980436 1000 1 166958607 166958607 C G exonic MAEL NA synonymous SNV MAEL:NM_032858:exon1:c.C18G:p.A6A exonic ENSG00000143194 NA synonymous SNV ENSG00000143194:ENST00000367870:exon1:c.C18G:p.A6A,ENSG00000143194:ENST00000367872:exon1:c.C18G:p.A6A,ENSG00000143194:ENST00000447624:exon1:c.C18G:p.A6A Score=460;Name=lod=99 NA 1q24.1 NA NA NA NA rs113297248 0.01 0.01 0.01 0.0091853 0.0268 NA 0.0231 0.0008 0.002 0.02 NA 0.03 0.002 0.0182 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 1.578824 1.578824 NA 0.023721 0.006128 NA 0.007 NA 6.5979456 1000 9 4490760 4490760 G C exonic SLC1A1 NA synonymous SNV SLC1A1:NM_004170:exon1:c.G81C:p.A27A exonic ENSG00000106688 NA synonymous SNV ENSG00000106688:ENST00000262352:exon1:c.G81C:p.A27A Score=538;Name=lod=205 NA 9p24.2 NA NA NA NA rs2229885 0.01 0.01 0.006 0.00738818 0.0288 NA 0.0058 0.0008 0.0031 0.03 NA 0.01 0.002 0.0163 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 2.180022 2.180022 NA 0.023721 0.004993 ID=COSM1559856;OCCURENCE=1(central_nervous_system) 0.051 NA 6.5978456 1000 8 146067125 146067125 C T exonic ZNF7 NA synonymous SNV ZNF7:NM_003416:exon5:c.C633T:p.I211I exonic ENSG00000147789 NA synonymous SNV ENSG00000147789:ENST00000544249:exon4:c.C345T:p.I115I,ENSG00000147789:ENST00000325241:exon5:c.C633T:p.I211I,ENSG00000147789:ENST00000446747:exon5:c.C666T:p.I222I,ENSG00000147789:ENST00000528372:exon5:c.C633T:p.I211I,ENSG00000147789:ENST00000532777:exon5:c.C633T:p.I211I NA NA 8q24.3 NA Name=SETDB1 NA NA rs35883359 0.02 0.02 0.009 0.0313498 0.0199 0.0258 0.072 0.0144 0.0429 0.01 0.01 0.06 0.01 0.031 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 -0.04378 NA NA 0.018488 0.015207 NA 0.007 NA 6.5972786 1000 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 1000 1 151341570 151341570 C T exonic SELENBP1 NA synonymous SNV SELENBP1:NM_001258289:exon4:c.G396A:p.S132S,SELENBP1:NM_003944:exon4:c.G270A:p.S90S exonic ENSG00000143416 NA synonymous SNV ENSG00000143416:ENST00000368868:exon4:c.G270A:p.S90S,ENSG00000143416:ENST00000423070:exon4:c.G396A:p.S132S,ENSG00000143416:ENST00000426705:exon4:c.G396A:p.S132S,ENSG00000143416:ENST00000427867:exon4:c.G216A:p.S72S,ENSG00000143416:ENST00000427977:exon4:c.G270A:p.S90S,ENSG00000143416:ENST00000435071:exon4:c.G78A:p.S26S,ENSG00000143416:ENST00000443708:exon4:c.G270A:p.S90S,ENSG00000143416:ENST00000455397:exon4:c.G270A:p.S90S,ENSG00000143416:ENST00000458566:exon4:c.G222A:p.S74S NA NA 1q21.3 Score=798;Name=V$AHRARNT_02 NA NA NA rs41284998 0.01 0.01 0.01 0.0071885 0.0278 NA 0.0058 NA 0.0041 0.03 NA 0.01 NA 0.0164 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 0.59779 NA NA 0.025349 0.004312 NA NA NA 6.5971176 1000 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 1000 13 107145610 107145610 C T exonic EFNB2 NA synonymous SNV EFNB2:NM_004093:exon5:c.G780A:p.S260S exonic ENSG00000125266 NA synonymous SNV ENSG00000125266:ENST00000245323:exon5:c.G780A:p.S260S NA NA 13q33.3 NA NA Name=3 NA rs41275060 0.01 0.01 0.011 0.0081869 0.0258 NA 0.0144 0.0015 0.0031 0.03 0.01 0.01 0.0041 0.0169 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 1.377012 1.377012 NA 0.027442 0.002724 NA 0.029 NA 6.5965246 1001 5 71756102 71756102 G A exonic ZNF366 NA synonymous SNV ZNF366:NM_152625:exon2:c.C1222T:p.L408L exonic ENSG00000178175 NA synonymous SNV ENSG00000178175:ENST00000318442:exon2:c.C1222T:p.L408L Score=689;Name=lod=838 NA 5q13.2 Score=726;Name=V$NRSF_01 NA NA NA rs7721922 0.52 0.52 0.49 0.527556 0.335 0.8621 0.4135 0.5008 0.498 0.33 0.88 0.41 0.47 0.41 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.515039 NA NA 0.327093 0.51044 ID=COSM1178497;OCCURENCE=1(prostate) 0.348 NA 6.5945736 1001 2 209036712 209036712 T C exonic C2orf80 NA nonsynonymous SNV C2orf80:NM_001099334:exon7:c.A454G:p.S152G exonic ENSG00000188674 NA nonsynonymous SNV ENSG00000188674:ENST00000451342:exon3:c.A229G:p.I77V,ENSG00000188674:ENST00000423952:exon5:c.A193G:p.S65G,ENSG00000188674:ENST00000451346:exon5:c.A397G:p.S133G,ENSG00000188674:ENST00000341287:exon7:c.A454G:p.S152G Score=496;Name=lod=138 NA 2q34 NA NA NA NA rs10804166 0.87 0.87 0.856 0.856829 0.9274 0.8542 0.9352 0.7943 0.816 0.92 0.85 0.93 0.78 0.8895 0.93 . . 0.002 B 0.007 B 0.000 N 0.000 P 0.975 L 1.55 T -1.045 T 0.000 T 0.272 2.11 13.01 1.54 0.177 1.553 3.896 2.109816 2.109816 0.1 0.921924 0.821928 NA 0.899 NA 6.5945094 1001 10 79616605 79616605 T C exonic DLG5 NA nonsynonymous SNV DLG5:NM_004747:exon3:c.A419G:p.Q140R exonic ENSG00000151208 NA nonsynonymous SNV ENSG00000151208:ENST00000372388:exon3:c.A419G:p.Q140R,ENSG00000151208:ENST00000372391:exon3:c.A419G:p.Q140R,ENSG00000151208:ENST00000468332:exon3:c.A194G:p.Q65R Score=358;Name=lod=38 NA 10q22.3 NA NA NA NA rs1248696 0.96 0.96 0.951 0.965655 0.9115 0.998 0.951 0.9939 0.9601 0.91 1 0.94 0.99 0.9311 1 1 T 0.0 B 0.001 B 0.240 N 1.000 P -0.51 N 0.82 T -0.947 T 0.000 T 0.029 -1.478 0.018 1.51 -0.211 1.769 9.109 -1.478198 NA 0.84 0.896279 0.982751 NA 0.913 NA 6.5944544 1001 10 125521626 125521626 G A exonic CPXM2 NA synonymous SNV CPXM2:NM_198148:exon11:c.C1539T:p.G513G exonic ENSG00000121898 NA synonymous SNV ENSG00000121898:ENST00000241305:exon11:c.C1539T:p.G513G NA NA 10q26.13 Score=825;Name=V$RFX1_01 NA NA NA rs62640889 0.02 0.02 0.014 0.0203674 0.0219 0.0248 0.0144 0.0189 0.0204 0.02 0.02 0.02 0.01 0.0208 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 1.152101 NA NA 0.029535 0.013391 NA 0.014 NA 6.5944316 1001 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 1001 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 1001 11 85435991 85435991 T C exonic SYTL2 NA synonymous SNV SYTL2:NM_206927:exon1:c.A1509G:p.Q503Q,SYTL2:NM_206928:exon1:c.A1509G:p.Q503Q exonic ENSG00000137501 NA synonymous SNV ENSG00000137501:ENST00000354566:exon1:c.A1509G:p.Q503Q,ENSG00000137501:ENST00000359152:exon1:c.A3081G:p.Q1027Q,ENSG00000137501:ENST00000389959:exon1:c.A1509G:p.Q503Q,ENSG00000137501:ENST00000525423:exon1:c.A1509G:p.Q503Q NA NA 11q14.1 NA NA Name=20 NA rs115708955 0.02 0.02 0.013 0.0141773 0.0258 0.004 0.0346 0.0008 0.0164 0.03 0.01 0.03 0.002 0.0255 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 -2.013913 NA NA 0.02268 0.004766 NA 0.007 NA 6.5926866 1001 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 1001 1 92428495 92428495 C A exonic BRDT NA nonsynonymous SNV BRDT:NM_001242806:exon2:c.C184A:p.Q62K,BRDT:NM_001242807:exon2:c.C184A:p.Q62K,BRDT:NM_001242808:exon2:c.C184A:p.Q62K,BRDT:NM_001726:exon2:c.C184A:p.Q62K,BRDT:NM_207189:exon2:c.C184A:p.Q62K,BRDT:NM_001242805:exon3:c.C184A:p.Q62K exonic ENSG00000137948 NA nonsynonymous SNV ENSG00000137948:ENST00000394530:exon2:c.C184A:p.Q62K,ENSG00000137948:ENST00000399546:exon2:c.C184A:p.Q62K,ENSG00000137948:ENST00000402388:exon2:c.C184A:p.Q62K,ENSG00000137948:ENST00000426141:exon2:c.C184A:p.Q62K,ENSG00000137948:ENST00000448194:exon2:c.C184A:p.Q62K,ENSG00000137948:ENST00000362005:exon3:c.C184A:p.Q62K,ENSG00000137948:ENST00000423434:exon3:c.C184A:p.Q62K,ENSG00000137948:ENST00000427104:exon3:c.C184A:p.Q62K,ENSG00000137948:ENST00000440509:exon3:c.C184A:p.Q62K,ENSG00000137948:ENST00000450792:exon4:c.C184A:p.Q62K,ENSG00000137948:ENST00000548992:exon4:c.C184A:p.Q62K NA NA 1p22.1 NA NA NA NA rs10783071 0.77 0.77 0.757 0.75599 0.9235 0.6141 0.8415 0.6551 0.8057 0.92 0.58 0.87 0.68 0.8763 0.94 0.44 T 0.0 B 0.0 B 0.015 N 1.000 P 0.215 N 2.21 T -0.952 T 0.013 T 0.136 0.96 8.916 2.25 -0.025 1.070 6.707 0.959908 NA 0.27 0.941395 0.69882 NA 0.848 NA 6.5921384 1001 19 38590700 38590700 T C exonic SIPA1L3 NA synonymous SNV SIPA1L3:NM_015073:exon5:c.T1764C:p.Y588Y exonic ENSG00000105738 NA synonymous SNV ENSG00000105738:ENST00000222345:exon5:c.T1764C:p.Y588Y NA NA 19q13.13 Score=795;Name=V$XBP1_01 NA NA NA rs56110924 0.01 0.01 0.014 0.00658946 0.0219 NA 0.0101 0.0008 0.0031 0.03 NA 0.0028 0.002 0.0214 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 0.893966 NA NA 0.031279 0.006128 NA 0.058 NA 6.5920876 1001 5 140625207 140625207 C T exonic PCDHB15 NA synonymous SNV PCDHB15:NM_018935:exon1:c.C61T:p.L21L exonic ENSG00000113248 NA synonymous SNV ENSG00000113248:ENST00000231173:exon1:c.C61T:p.L21L NA NA 5q31.3 NA Name=Pol2 NA NA rs35154204 0.01 0.01 0.01 0.0239617 0.0209 NA 0.0086 NA 0.0951 0.02 NA 0.01 NA 0.0301 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 -1.713692 NA NA 0.023721 0.004539 NA 0.022 NA 6.5919456 1001 6 29323076 29323076 T C exonic OR5V1 NA synonymous SNV OR5V1:NM_030876:exon1:c.A897G:p.E299E exonic ENSG00000243729 NA synonymous SNV ENSG00000243729:ENST00000543825:exon1:c.A897G:p.E299E,ENSG00000243729:ENST00000377154:exon4:c.A897G:p.E299E NA NA 6p22.1 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs9257769 0.02 0.02 0.018 0.0219649 0.0298 0.0417 0.0202 0.0076 0.0143 0.03 0.03 0.01 0.01 0.0208 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 0.978273 NA NA 0.024651 0.006809 NA 0.029 NA 6.5914156 1001 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 1001 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 1001 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 1001 16 12758966 12758966 T C exonic CPPED1 NA nonsynonymous SNV CPPED1:NM_001099455:exon3:c.A296G:p.K99R,CPPED1:NM_018340:exon4:c.A722G:p.K241R exonic ENSG00000103381 NA nonsynonymous SNV ENSG00000103381:ENST00000433677:exon3:c.A296G:p.K99R,ENSG00000103381:ENST00000381774:exon4:c.A722G:p.K241R Score=387;Name=lod=50 NA 16p13.12 NA NA NA NA rs1713480 0.77 0.77 0.753 0.730232 0.9453 0.5367 0.7305 0.6876 0.7658 0.95 0.58 0.77 0.69 0.8551 0.95 0.44 T 0.045 B 0.02 B 0.000 N 0.000 P 0.805 L -2.04 D -0.990 T 0.000 T 0.054 1.357 10.46 -0.704 -0.307 0.265 5.434 1.356647 1.356647 0.66 0.943939 0.761604 NA 0.754 NA 6.5889944 1001 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,Pol2-4H8,NFKB,HMGN3 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 1001 7 77552127 77552127 G A exonic PHTF2 NA nonsynonymous SNV PHTF2:NM_001127359:exon9:c.G1049A:p.R350H,PHTF2:NM_001127360:exon9:c.G1037A:p.R346H exonic ENSG00000006576 NA nonsynonymous SNV ENSG00000006576:ENST00000415251:exon9:c.G1037A:p.R346H,ENSG00000006576:ENST00000450574:exon9:c.G1049A:p.R350H NA NA 7q21.11 NA NA NA NA rs848486 0.61 0.61 0.584 0.602835 0.5527 0.7808 0.6859 0.4349 0.6391 0.56 0.78 0.7 0.43 0.6092 0.78 . . 0.0 B 0.0 B . . 1.000 P . . . . -0.991 T 0.000 T 0.016 2.069 12.87 -0.832 -0.252 -2.200 6.322 2.06859 2.06859 0 0.583559 0.463449 NA 0.522 NA 6.5878744 1001 11 60620692 60620692 C A exonic PTGDR2 NA synonymous SNV PTGDR2:NM_004778:exon2:c.G504T:p.V168V exonic ENSG00000183134 NA synonymous SNV ENSG00000183134:ENST00000332539:exon2:c.G504T:p.V168V Score=428;Name=lod=73 NA 11q12.2 NA NA NA NA rs41352145 0.09 0.09 0.012 0.0227636 0.0328 NA 0.0058 0.0182 0.0542 0.11 0.06 0.04 0.12 0.0255 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 0.680347 NA NA 0.020819 0.016795 NA 0.007 NA 6.5875476 1001 18 56246442 56246442 T C exonic ALPK2 NA synonymous SNV ALPK2:NM_052947:exon4:c.A1566G:p.G522G exonic ENSG00000198796 NA synonymous SNV ENSG00000198796:ENST00000361673:exon4:c.A1566G:p.G522G NA NA 18q21.32 NA Name=STAT3 Name=95 NA rs12606191 0.38 0.38 0.334 0.373403 0.3539 0.6022 0.3991 0.1316 0.4663 0.33 0.62 0.4 0.14 0.371 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.510436 NA NA 0.354651 0.181117 NA 0.319 NA 6.5871156 1001 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 1001 15 54786879 54786879 T C exonic UNC13C NA synonymous SNV UNC13C:NM_001080534:exon18:c.T5007C:p.N1669N exonic ENSG00000137766 NA synonymous SNV ENSG00000137766:ENST00000537900:exon18:c.T5001C:p.N1667N,ENSG00000137766:ENST00000260323:exon19:c.T5007C:p.N1669N,ENSG00000137766:ENST00000545554:exon19:c.T5007C:p.N1669N Score=667;Name=lod=687 NA 15q21.3 NA NA NA NA rs78088948 0.05 0.05 0.039 0.0591054 0.0189 0.0833 0.1902 0.0008 0.0613 0.02 0.09 0.12 0.002 0.042 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 0.962766 NA NA 0.019004 0.00817 NA 0.029 NA 6.5867626 1001 5 172395581 172395581 C T exonic RPL26L1 NA synonymous SNV RPL26L1:NM_016093:exon3:c.C288T:p.H96H exonic ENSG00000037241 NA synonymous SNV ENSG00000037241:ENST00000519156:exon2:c.C288T:p.H96H,ENSG00000037241:ENST00000265100:exon3:c.C288T:p.H96H,ENSG00000037241:ENST00000519239:exon3:c.C288T:p.H96H,ENSG00000037241:ENST00000519974:exon3:c.C288T:p.H96H,ENSG00000037241:ENST00000521476:exon3:c.C288T:p.H96H Score=481;Name=lod=120 NA 5q35.1 NA NA NA NA rs17075427 0.02 0.02 0.019 0.0295527 0.0229 0.0079 0.0173 0.0227 0.0767 0.02 0.0035 0.02 0.03 0.0307 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 -0.863877 NA NA 0.026512 0.020427 NA 0.014 NA 6.5865546 1001 4 100510859 100510859 T C exonic MTTP NA synonymous SNV MTTP:NM_000253:exon5:c.T453C:p.G151G exonic ENSG00000138823 NA synonymous SNV ENSG00000138823:ENST00000265517:exon4:c.T453C:p.G151G,ENSG00000138823:ENST00000506883:exon4:c.T483C:p.G161G,ENSG00000138823:ENST00000511045:exon4:c.T534C:p.G178G,ENSG00000138823:ENST00000457717:exon5:c.T453C:p.G151G Score=524;Name=lod=179 NA 4q23 NA NA NA NA rs991811 0.51 0.51 0.543 0.544329 0.3141 0.6706 0.3084 0.8238 0.4407 0.3 0.68 0.29 0.79 0.4036 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 1.341062 1.341062 NA 0.363837 0.744212 NA 0.457 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117637.2;CLNDSDB=.;CLNDSDBID=. 6.5851296 1002 1 27679954 27679954 G A exonic SYTL1 NA synonymous SNV SYTL1:NM_001193308:exon14:c.G1524A:p.G508G,SYTL1:NM_032872:exon14:c.G1488A:p.G496G exonic ENSG00000142765 NA synonymous SNV ENSG00000142765:ENST00000543823:exon13:c.G1524A:p.G508G,ENSG00000142765:ENST00000318074:exon14:c.G1488A:p.G496G Score=534;Name=lod=197 NA 1p36.11 Score=882;Name=V$AHRARNT_01 NA NA NA rs1128918 0.24 0.24 0.212 0.241014 0.3678 0.1756 0.2176 0.1233 0.3538 0.38 0.17 0.22 0.14 0.3509 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.300896 1.300896 NA 0.363108 0.16099 NA 0.196 NA 6.5848586 1002 10 116889272 116889272 A G exonic ATRNL1 NA synonymous SNV ATRNL1:NM_001276282:exon5:c.A804G:p.L268L,ATRNL1:NM_207303:exon5:c.A804G:p.L268L exonic ENSG00000107518 NA synonymous SNV ENSG00000107518:ENST00000355044:exon5:c.A804G:p.L268L,ENSG00000107518:ENST00000526946:exon5:c.A603G:p.L201L,ENSG00000107518:ENST00000527407:exon5:c.A804G:p.L268L Score=567;Name=lod=269 NA 10q25.3 NA NA NA NA rs77597486 0.02 0.02 0.017 0.0177716 0.0288 0.001 0.0202 0.0144 0.0266 0.03 NA 0.02 0.02 0.0224 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 0.805357 NA NA 0.030814 0.015207 NA 0.014 NA 6.5846526 1002 19 16025176 16025176 C T exonic CYP4F11 NA nonsynonymous SNV CYP4F11:NM_021187:exon11:c.G1336A:p.D446N,CYP4F11:NM_001128932:exon12:c.G1336A:p.D446N exonic ENSG00000171903 NA nonsynonymous SNV ENSG00000171903:ENST00000326742:exon10:c.G1271A:p.R424Q,ENSG00000171903:ENST00000402119:exon11:c.G1336A:p.D446N,ENSG00000171903:ENST00000248041:exon12:c.G1336A:p.D446N Score=441;Name=lod=83 NA 19p13.12 NA NA NA NA rs1060463 0.51 0.51 0.471 0.5 0.5835 0.381 0.5245 0.4735 0.5552 0.6 0.37 0.5 0.52 0.5672 0.6 0.07 T 0.265 B 0.172 B 0.001 U 0.088 P 0.805 L -0.34 T -0.917 T 0.000 T 0.066 -0.729 0.879 0.696 -0.168 0.916 7.384 -0.729481 NA 0.04 0.598256 0.462551 NA 0.514 NA 6.5843774 1002 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 1002 2 73339708 73339708 G A exonic RAB11FIP5 NA synonymous SNV RAB11FIP5:NM_015470:exon1:c.C198T:p.C66C exonic ENSG00000135631 NA synonymous SNV ENSG00000135631:ENST00000258098:exon1:c.C198T:p.C66C Score=599;Name=lod=364 NA 2p13.2 NA Name=ZNF263 Name=65 NA rs1864488 0.52 0.52 0.552 0.520567 0.7137 0.4296 0.6671 0.2443 0.6851 0.7 0.44 0.67 0.24 0.675 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 1.139543 NA NA 0.693939 0.32673 NA 0.014 NA 6.5840276 1002 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 1002 3 9934605 9934605 T C exonic JAGN1 NA synonymous SNV JAGN1:NM_032492:exon2:c.T96C:p.T32T exonic ENSG00000171135 NA synonymous SNV ENSG00000171135:ENST00000307768:exon2:c.T96C:p.T32T Score=600;Name=lod=367 NA 3p25.3 Score=724;Name=V$BRACH_01 Name=USF-1 NA NA rs279553 0.68 0.68 0.693 0.6877 0.7058 0.7212 0.6326 0.6808 0.683 0.7 0.71 0.64 0.67 0.6885 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.833404 NA NA 0.688488 0.68611 NA 0.536 NA 6.5838786 1002 7 99128918 99128918 A G exonic ZKSCAN5 NA synonymous SNV ZKSCAN5:NM_014569:exon7:c.A1566G:p.L522L,ZKSCAN5:NM_145102:exon7:c.A1566G:p.L522L exonic ENSG00000196652 NA synonymous SNV ENSG00000196652:ENST00000326775:exon7:c.A1566G:p.L522L,ENSG00000196652:ENST00000394170:exon7:c.A1566G:p.L522L,ENSG00000196652:ENST00000451158:exon7:c.A1566G:p.L522L NA NA 7q22.1 NA Name=SETDB1,KAP1 NA NA rs61735344 0.01 0.01 0.008 0.00758786 0.0229 NA 0.0159 0.0015 0.002 0.02 NA 0.02 NA 0.022 0.038 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.785751 NA NA 0.038023 0.00749 NA NA NA 6.5837436 1002 4 39458051 39458051 A G exonic RPL9 NA synonymous SNV RPL9:NM_001024921:exon4:c.T366C:p.Y122Y,RPL9:NM_000661:exon5:c.T366C:p.Y122Y exonic ENSG00000163682 NA synonymous SNV ENSG00000163682:ENST00000449470:exon4:c.T366C:p.Y122Y,ENSG00000163682:ENST00000295955:exon5:c.T366C:p.Y122Y,ENSG00000163682:ENST00000503040:exon5:c.T366C:p.Y122Y,ENSG00000163682:ENST00000504470:exon5:c.T366C:p.Y122Y Score=621;Name=lod=447 NA 4p14 NA NA NA NA rs2125313 0.68 0.68 0.643 0.692891 0.6799 0.7212 0.8069 0.5272 0.82 0.68 0.75 0.79 0.53 0.7029 0.79 0.28 T . . . . 0.000 U 0.000 P . . . . -1.014 T 0.000 T . -0.54 1.549 1.53 0.088 1.174 10.540 -0.539856 NA NA 0.700349 0.550613 NA 0.638 NA 6.5835176 1002 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 1002 17 7133609 7133609 G A exonic DVL2 NA synonymous SNV DVL2:NM_004422:exon3:c.C405T:p.S135S exonic ENSG00000004975 NA synonymous SNV ENSG00000004975:ENST00000005340:exon3:c.C405T:p.S135S,ENSG00000004975:ENST00000574143:exon3:c.C219T:p.S73S,ENSG00000004975:ENST00000575458:exon3:c.C405T:p.S135S,ENSG00000004975:ENST00000575756:exon3:c.C405T:p.S135S Score=565;Name=lod=264 NA 17p13.1 Score=881;Name=V$YY1_01 NA NA NA rs2074216 0.33 0.33 0.286 0.332668 0.3777 0.3859 0.268 0.267 0.3661 0.36 0.37 0.29 0.25 0.3501 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.35611 NA NA 0.35593 0.264866 NA 0.29 NA 6.5829366 1002 1 21042115 21042115 G A exonic KIF17 NA synonymous SNV KIF17:NM_001122819:exon2:c.C249T:p.Y83Y,KIF17:NM_020816:exon2:c.C249T:p.Y83Y exonic ENSG00000117245 NA synonymous SNV ENSG00000117245:ENST00000247986:exon2:c.C249T:p.Y83Y,ENSG00000117245:ENST00000400463:exon2:c.C249T:p.Y83Y Score=612;Name=lod=408 NA 1p36.12 NA NA NA NA rs34126615 0.02 0.02 0.011 0.0101837 0.0358 NA 0.013 0.0023 0.0031 0.04 NA 0.02 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 1.163895 NA NA 0.026047 0.005901 NA 0.014 NA 6.5829196 1002 17 67101718 67101718 C T exonic ABCA6 NA nonsynonymous SNV ABCA6:NM_080284:exon20:c.G2625A:p.M875I exonic ENSG00000154262 NA nonsynonymous SNV ENSG00000154262:ENST00000284425:exon20:c.G2625A:p.M875I NA NA 17q24.3 NA NA NA NA rs7212506 0.77 0.77 0.753 0.747804 0.9324 0.881 0.7709 0.3601 0.9284 0.93 0.87 0.77 0.39 0.8772 0.94 0.48 T 0.0 B 0.002 B 0.199 N 1.000 P 0.205 N -2.02 D -0.955 T 0.000 T 0.026 -0.084 3.59 -1.72 -0.110 -2.112 1.551 -0.083891 NA NA 0.940916 0.464124 NA 0.761 NA 6.5828174 1002 2 166770120 166770120 A G exonic TTC21B NA synonymous SNV TTC21B:NM_024753:exon16:c.T2175C:p.F725F exonic ENSG00000123607 NA synonymous SNV ENSG00000123607:ENST00000243344:exon16:c.T2175C:p.F725F Score=622;Name=lod=448 NA 2q24.3 NA NA NA NA rs10176588 0.29 0.29 0.25 0.277356 0.3648 0.2014 0.2262 0.2587 0.3272 0.37 0.2 0.28 0.25 0.3302 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046538 NA NA 0.38907 0.266455 NA 0.167 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000118724.2;CLNDSDB=.;CLNDSDBID=. 6.5825966 1002 11 20404613 20404613 T G exonic HTATIP2 NA nonsynonymous SNV HTATIP2:NM_001098522:exon5:c.T591G:p.S197R,HTATIP2:NM_001098520:exon6:c.T693G:p.S231R,HTATIP2:NM_001098521:exon6:c.T591G:p.S197R,HTATIP2:NM_006410:exon6:c.T591G:p.S197R exonic ENSG00000109854 NA nonsynonymous SNV ENSG00000109854:ENST00000531058:exon4:c.T453G:p.S151R,ENSG00000109854:ENST00000451739:exon5:c.T591G:p.S197R,ENSG00000109854:ENST00000419348:exon6:c.T693G:p.S231R,ENSG00000109854:ENST00000421577:exon6:c.T591G:p.S197R,ENSG00000109854:ENST00000443524:exon6:c.T591G:p.S197R NA NA 11p15.1 Score=979;Name=V$AP2REP_01 NA NA NA rs3824886 0.71 0.71 0.719 0.712061 0.9433 0.4673 0.7205 0.587 0.8896 0.94 0.47 0.76 0.6 0.8574 0.95 0.17 T 0.003 B 0.003 B 0.006 N 0.999 P -0.365 N 1.67 T -1.006 T 0.000 T 0.111 1.697 11.63 -5.58 -0.672 -0.589 3.801 1.696674 1.696674 0.05 0.950233 0.641398 NA 0.746 NA 6.5824004 1002 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 1002 1 20501670 20501670 G A exonic PLA2G2C NA synonymous SNV PLA2G2C:NM_001105572:exon1:c.C18T:p.S6S exonic ENSG00000187980 NA synonymous SNV ENSG00000187980:ENST00000247992:exon1:c.C18T:p.S6S NA NA 1p36.12 NA NA Name=5 NA rs41264517 0.01 0.01 0.01 0.00838658 0.0229 NA 0.0187 0.0008 0.0051 0.02 NA 0.03 0.002 0.0249 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 -0.142327 NA NA 0.036975 0.004762 NA 0.072 NA 6.5818916 1002 12 10251498 10251498 C T exonic CLEC1A NA synonymous SNV CLEC1A:NM_016511:exon1:c.G24A:p.T8T exonic ENSG00000150048 NA synonymous SNV ENSG00000150048:ENST00000315330:exon1:c.G24A:p.T8T,ENSG00000150048:ENST00000420265:exon1:c.G24A:p.T8T,ENSG00000150048:ENST00000457018:exon1:c.G24A:p.T8T,ENSG00000150048:ENST00000544104:exon1:c.G24A:p.T8T,ENSG00000150048:ENST00000414501:exon2:c.G24A:p.T8T NA NA 12p13.2 NA Name=TAF1,Pol2 NA NA rs148373579 0.01 0.01 0.011 0.0081869 0.0268 NA 0.0014 0.0015 0.0112 0.02 NA NA 0.002 0.0279 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 1.237316 1.237316 NA 0.031047 0.006128 NA 0.007 NA 6.5809196 1002 X 152226542 152226542 T C exonic PNMA3 NA nonsynonymous SNV PNMA3:NM_013364:exon2:c.T1130C:p.V377A exonic ENSG00000183837 NA nonsynonymous SNV ENSG00000183837:ENST00000370264:exon1:c.T1130C:p.V377A,ENSG00000183837:ENST00000370265:exon2:c.T1130C:p.V377A,ENSG00000183837:ENST00000424805:exon2:c.T1130C:p.V377A,ENSG00000183837:ENST00000447306:exon2:c.T1130C:p.V377A NA NA Xq28 NA NA NA NA rs6526155 0.91 0.91 0.90938 NA NA NA NA NA NA 0.88 0.95 0.93 0.92 0.895 0.95 1 T 0.0 B 0.0 B . . 1.000 P -1.525 N 2.49 T -1.022 T 0.000 T 0.02 -1.948 0.007 -0.952 -0.844 -1.803 4.824 -1.948235 NA 1 0.857737 0.943386 NA 0.696 NA 6.5805964 1002 3 38592406 38592406 A G exonic SCN5A NA synonymous SNV SCN5A:NM_001099405:exon27:c.T5403C:p.D1801D,SCN5A:NM_001160161:exon27:c.T5295C:p.D1765D,SCN5A:NM_000335:exon28:c.T5454C:p.D1818D,SCN5A:NM_001099404:exon28:c.T5457C:p.D1819D,SCN5A:NM_001160160:exon28:c.T5358C:p.D1786D,SCN5A:NM_198056:exon28:c.T5457C:p.D1819D exonic ENSG00000183873 NA synonymous SNV ENSG00000183873:ENST00000414099:exon26:c.T5403C:p.D1801D,ENSG00000183873:ENST00000449557:exon26:c.T5295C:p.D1765D,ENSG00000183873:ENST00000450102:exon26:c.T5295C:p.D1765D,ENSG00000183873:ENST00000423572:exon27:c.T5454C:p.D1818D,ENSG00000183873:ENST00000425664:exon27:c.T5403C:p.D1801D,ENSG00000183873:ENST00000451551:exon27:c.T5295C:p.D1765D,ENSG00000183873:ENST00000455624:exon27:c.T5358C:p.D1786D,ENSG00000183873:ENST00000333535:exon28:c.T5457C:p.D1819D,ENSG00000183873:ENST00000413689:exon28:c.T5457C:p.D1819D,ENSG00000183873:ENST00000443581:exon28:c.T5454C:p.D1818D NA Name=Electrocardiographic conduction measures 3p22.2 NA NA NA NA rs1805126 0.51 0.51 0.502 0.492412 0.3648 0.5784 0.4265 0.7042 0.2955 0.38 0.55 0.42 0.72 0.3878 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.086165 NA NA 0.333567 0.625639 NA 0.486 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041627.1|RCV000127989.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.5804996 1002 2 206882530 206882530 G C exonic INO80D NA synonymous SNV INO80D:NM_017759:exon8:c.C1416G:p.L472L exonic ENSG00000114933 NA synonymous SNV ENSG00000114933:ENST00000424117:exon7:c.C1101G:p.L367L,ENSG00000114933:ENST00000403263:exon8:c.C1416G:p.L472L Score=608;Name=lod=393 NA 2q33.3 NA NA NA NA rs41272653 0.02 0.02 0.022 0.0249601 0.0239 0.0308 0.0202 0.0038 0.0521 0.02 0.03 0.02 0.01 0.0301 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 0.096544 NA NA 0.03249 0.007834 NA NA NA 6.5801766 1002 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 1002 1 17674537 17674537 C A exonic PADI4 NA synonymous SNV PADI4:NM_012387:exon10:c.C1149A:p.R383R exonic ENSG00000159339 NA synonymous SNV ENSG00000159339:ENST00000375448:exon10:c.C1149A:p.R383R NA Name=Rheumatoid arthritis 1p36.13 NA Name=Pol2 NA NA rs2240335 0.42 0.42 0.383 0.421326 0.3469 0.5635 0.4121 0.3517 0.4519 0.35 0.59 0.39 0.36 0.3895 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603969 NA NA 0.35186 0.371085 NA 0.217 NA 6.5784066 1002 5 15937010 15937010 C T exonic FBXL7 NA synonymous SNV FBXL7:NM_012304:exon4:c.C1191T:p.L397L exonic ENSG00000183580 NA synonymous SNV ENSG00000183580:ENST00000329673:exon3:c.C1155T:p.L385L,ENSG00000183580:ENST00000504595:exon4:c.C1191T:p.L397L,ENSG00000183580:ENST00000510662:exon4:c.C1050T:p.L350L Score=747;Name=lod=1448 NA 5p15.1 NA NA NA NA rs61748187 0.01 0.01 0.014 0.0101837 0.0318 NA 0.013 0.0015 0.0082 0.03 NA 0.01 0.002 0.0248 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 0.764545 NA NA 0.03222 0.006233 NA 0.08 NA 6.5778466 1002 2 166773971 166773971 G A exonic TTC21B NA synonymous SNV TTC21B:NM_024753:exon14:c.C1695T:p.Y565Y exonic ENSG00000123607 NA synonymous SNV ENSG00000123607:ENST00000243344:exon14:c.C1695T:p.Y565Y Score=664;Name=lod=668 NA 2q24.3 NA NA NA NA rs6750044 0.3 0.3 0.291 0.291733 0.3668 0.2014 0.2291 0.3094 0.3282 0.37 0.2 0.28 0.3 0.3331 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.786737 NA NA 0.389044 0.307081 NA 0.167 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000118722.2;CLNDSDB=.;CLNDSDBID=. 6.5777226 1002 10 101667792 101667792 C T exonic DNMBP NA synonymous SNV DNMBP:NM_015221:exon6:c.G2514A:p.S838S exonic ENSG00000107554 NA synonymous SNV ENSG00000107554:ENST00000422692:exon3:c.G378A:p.S126S,ENSG00000107554:ENST00000543621:exon3:c.G252A:p.S84S,ENSG00000107554:ENST00000324109:exon6:c.G2514A:p.S838S,ENSG00000107554:ENST00000342239:exon6:c.G2514A:p.S838S Score=569;Name=lod=275 NA 10q24.2 NA NA NA NA rs17854135 0.01 0.01 0.01 0.00958466 0.0288 NA 0.0072 0.0015 0.0123 0.03 NA 0.01 0.002 0.0254 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 0.651031 NA NA 0.034767 0.008171 NA NA NA 6.5776996 1002 19 1005531 1005531 G C exonic GRIN3B NA synonymous SNV GRIN3B:NM_138690:exon3:c.G2031C:p.L677L exonic ENSG00000116032 NA synonymous SNV ENSG00000116032:ENST00000234389:exon3:c.G2031C:p.L677L Score=663;Name=lod=660 NA 19p13.3 Score=901;Name=V$TGIF_01 NA NA NA rs12973948 0.24 0.24 0.2 0.234625 0.3738 0.1706 0.2291 0.1293 0.3037 0.37 0.14 0.27 0.12 0.3454 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.96261 NA NA 0.371017 0.166667 NA 0.217 NA 6.5764496 1002 7 95800820 95800820 T C exonic SLC25A13 NA synonymous SNV SLC25A13:NM_001160210:exon12:c.A1197G:p.L399L,SLC25A13:NM_014251:exon12:c.A1194G:p.L398L exonic ENSG00000004864 NA synonymous SNV ENSG00000004864:ENST00000542654:exon11:c.A870G:p.L290L,ENSG00000004864:ENST00000265631:exon12:c.A1194G:p.L398L,ENSG00000004864:ENST00000416240:exon12:c.A1197G:p.L399L Score=592;Name=lod=339 NA 7q21.3 Score=829;Name=V$RFX1_02 NA NA NA rs2301629 0.39 0.39 0.399 0.409145 0.3469 0.6071 0.3357 0.2481 0.5389 0.37 0.57 0.35 0.25 0.3958 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.988615 NA NA 0.347558 0.266682 ID=COSM1453053;OCCURENCE=1(large_intestine) 0.319 NA 6.5764086 1002 X 147088249 147088249 C T exonic FMR1NB NA nonsynonymous SNV FMR1NB:NM_152578:exon3:c.C425T:p.A142V exonic ENSG00000176988 NA nonsynonymous SNV ENSG00000176988:ENST00000370467:exon3:c.C425T:p.A142V NA NA Xq27.3 NA NA NA NA rs764631 0.45 0.45 0.47138 NA NA NA NA NA NA 0.38 0.69 0.38 0.36 0.3895 0.69 1 T 0.0 B 0.001 B 0.250 N 1.000 P -0.695 N 0.98 T -0.953 T 0.000 T 0.016 -1.229 0.059 1.43 -0.452 0.590 4.468 -1.228678 NA 1 0.367568 0.36219 NA 0.297 NA 6.5762654 1002 10 64159333 64159333 G T exonic ZNF365 NA nonsynonymous SNV ZNF365:NM_014951:exon5:c.G1009T:p.A337S exonic ENSG00000138311 NA nonsynonymous SNV ENSG00000138311:ENST00000395254:exon5:c.G1009T:p.A337S Score=429;Name=lod=74 NA 10q21.2 NA NA NA NA rs3758490 0.49 0.49 0.455 0.44389 0.6024 0.6915 0.5634 0.0635 0.455 0.61 0.67 0.52 0.07 0.5445 0.67 0.77 T 0.034 B 0.053 B . . 0.000 P 1.245 L 0.9 T -0.935 T 0.000 T 0.034 1.487 10.92 -1.85 -0.006 0.106 7.413 1.486583 1.486583 0.33 0.610465 0.165683 ID=COSM146943;OCCURENCE=1(stomach) 0.297 NA 6.5759684 1002 21 43256629 43256629 G A exonic PRDM15 NA synonymous SNV PRDM15:NM_001040424:exon9:c.C1242T:p.C414C,PRDM15:NM_022115:exon16:c.C2229T:p.C743C exonic ENSG00000141956 NA synonymous SNV ENSG00000141956:ENST00000447207:exon8:c.C1131T:p.C377C,ENSG00000141956:ENST00000398548:exon9:c.C1242T:p.C414C,ENSG00000141956:ENST00000422911:exon9:c.C1242T:p.C414C,ENSG00000141956:ENST00000441787:exon9:c.C1071T:p.C357C,ENSG00000141956:ENST00000447016:exon9:c.C1131T:p.C377C,ENSG00000141956:ENST00000449395:exon9:c.C1242T:p.C414C,ENSG00000141956:ENST00000538201:exon9:c.C1131T:p.C377C,ENSG00000141956:ENST00000269844:exon16:c.C2229T:p.C743C,ENSG00000141956:ENST00000433067:exon16:c.C2229T:p.C743C Score=597;Name=lod=356 NA 21q22.3 NA NA NA NA rs73219067 0.01 0.01 0.015 0.0103834 0.0348 NA 0.0115 NA 0.0092 0.03 NA 0.0028 NA 0.0225 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 1.616455 1.616455 NA 0.033488 0.007717 NA 0.065 NA 6.5758786 1002 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 1003 22 42538669 42538669 C T ncRNA_intronic CYP2D7P1 NA NA NA intronic ENSG00000205702 NA NA NA NA NA 22q13.2 NA NA NA NA rs2856955 0.3 0.3 0.24 0.282947 0.3907 0.2629 0.4755 0.0477 0.3742 0.39 0.3 0.47 0.05 0.3678 0.47 . . . . . . . . 1.000 P . . . . -0.912 T 0.000 T . -0.582 1.387 -6.1 -1.478 . 0.911 -0.581722 NA NA NA NA NA 0.123 NA 6.5748333 1003 13 77834627 77834627 A C exonic MYCBP2 NA synonymous SNV MYCBP2:NM_015057:exon13:c.T1953G:p.S651S exonic ENSG00000005810 NA synonymous SNV ENSG00000005810:ENST00000407578:exon13:c.T1953G:p.S651S,ENSG00000005810:ENST00000544440:exon13:c.T1839G:p.S613S,ENSG00000005810:ENST00000357337:exon14:c.T1839G:p.S613S Score=668;Name=lod=692 NA 13q22.3 NA NA NA NA rs61749893 0.03 0.03 0.023 0.0191693 0.0398 0.0377 0.0101 0.0038 0.0061 0.04 0.04 0.02 0.0041 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 1.032626 NA NA 0.022685 0.00545 NA 0.08 NA 6.5747816 1003 19 44418775 44418775 C T exonic ZNF45 NA synonymous SNV ZNF45:NM_003425:exon10:c.G813A:p.T271T exonic ENSG00000124459 NA synonymous SNV ENSG00000124459:ENST00000589703:exon4:c.G813A:p.T271T,ENSG00000124459:ENST00000269973:exon10:c.G813A:p.T271T NA NA 19q13.31 NA Name=SETDB1 NA NA rs61731635 0.02 0.02 0.014 0.0145767 0.0417 NA 0.0231 0.0008 0.0143 0.04 NA 0.04 NA 0.0223 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 0.0099 NA NA 0.027907 0.006582 NA 0.007 NA 6.5747596 1003 2 166897864 166897864 A G exonic SCN1A NA synonymous SNV SCN1A:NM_001165963:exon13:c.T2292C:p.V764V,SCN1A:NM_001165964:exon13:c.T2208C:p.V736V,SCN1A:NM_006920:exon13:c.T2259C:p.V753V,SCN1A:NM_001202435:exon15:c.T2292C:p.V764V exonic ENSG00000144285 NA synonymous SNV ENSG00000144285:ENST00000303395:exon13:c.T2292C:p.V764V,ENSG00000144285:ENST00000375405:exon13:c.T2259C:p.V753V,ENSG00000144285:ENST00000409050:exon13:c.T2208C:p.V736V,ENSG00000144285:ENST00000423058:exon13:c.T2292C:p.V764V Score=631;Name=lod=488 NA 2q24.3 Score=861;Name=V$ZID_01 NA NA NA rs6432860 0.79 0.79 0.769 0.788938 0.6909 0.8909 0.7594 0.848 0.726 0.69 0.89 0.75 0.84 0.726 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.612687 NA NA 0.675581 0.816614 NA 0.688 CLINSIG=non-pathogenic|other;CLNDBN=Generalized_epilepsy_with_febrile_seizures_plus|not_specified;CLNREVSTAT=single|mult;CLNACC=RCV000030431.1|RCV000079565.3;CLNDSDB=MedGen|.;CLNDSDBID=C3502809|. 6.5741856 1003 6 106987370 106987370 A C exonic AIM1 NA nonsynonymous SNV AIM1:NM_001624:exon7:c.A3587C:p.E1196A exonic ENSG00000112297 NA nonsynonymous SNV ENSG00000112297:ENST00000369066:exon7:c.A3587C:p.E1196A Score=321;Name=lod=27 Name=Stroke 6q21 NA NA NA NA rs783396 0.93 0.93 0.912 0.935903 0.9036 0.9335 0.9222 0.9418 0.9734 0.9 0.95 0.93 0.94 0.9325 0.95 0.49 T 0.0 B 0.005 B 0.219 N 0.000 P 0.805 L -0.82 T -1.070 T 0.117 T 0.159 0.718 7.82 0.517 -0.412 0.938 16.113 0.717543 NA 0.35 0.92314 0.939401 NA 0.957 NA 6.5740934 1003 3 129286413 129286413 G C exonic PLXND1 NA synonymous SNV PLXND1:NM_015103:exon22:c.C4008G:p.L1336L exonic ENSG00000004399 NA synonymous SNV ENSG00000004399:ENST00000324093:exon22:c.C4008G:p.L1336L,ENSG00000004399:ENST00000393239:exon22:c.C4008G:p.L1336L Score=647;Name=lod=567 NA 3q22.1 Score=780;Name=V$PAX5_02 NA NA NA rs2245285 0.52 0.52 0.536 0.517971 0.3519 0.7431 0.379 0.6044 0.4387 0.35 0.74 0.4 0.61 0.4176 0.74 NA NA 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 0.323605 0.551294 NA 0.558 NA 6.5735616 1003 10 117226713 117226713 T C exonic ATRNL1 NA synonymous SNV ATRNL1:NM_207303:exon23:c.T3447C:p.N1149N exonic ENSG00000107518 NA synonymous SNV ENSG00000107518:ENST00000423111:exon7:c.T600C:p.N200N,ENSG00000107518:ENST00000355044:exon23:c.T3447C:p.N1149N Score=604;Name=lod=379 NA 10q25.3 NA NA NA NA rs17093114 0.06 0.06 0.054 0.0605032 0.0219 0.127 0.1527 0.003 0.044 0.02 0.13 0.14 NA 0.049 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.974319 NA NA 0.022235 0.006585 ID=COSM147054;OCCURENCE=1(stomach),1(haematopoietic_and_lymphoid_tissue) 0.022 NA 6.5735316 1003 5 1225687 1225687 C T exonic SLC6A18 NA nonsynonymous SNV SLC6A18:NM_182632:exon1:c.C95T:p.T32I exonic ENSG00000164363 NA nonsynonymous SNV ENSG00000164363:ENST00000296821:exon1:c.C95T:p.T32I,ENSG00000164363:ENST00000324642:exon1:c.C95T:p.T32I NA NA 5p15.33 NA NA NA NA rs7705355 0.7 0.7 0.588 0.822883 0.9553 0.5972 0.8573 0.879 0.819 0.79 0.55 0.78 0.68 0.8992 0.91 0.73 T 0.0 B 0.0 B 0.360 N 1.000 P -3.725 N -0.45 T -0.939 T 0.000 T 0.041 -1.538 0.016 4.12 0.565 6.067 9.694 -1.537792 NA 1 0.905465 0.794371 ID=COSM149782;OCCURENCE=1(stomach) 0.225 NA 6.5733684 1003 3 172766777 172766777 C T exonic SPATA16 NA synonymous SNV SPATA16:NM_031955:exon3:c.G720A:p.R240R exonic ENSG00000144962 NA synonymous SNV ENSG00000144962:ENST00000351008:exon3:c.G720A:p.R240R Score=618;Name=lod=432 NA 3q26.31 NA NA NA NA rs55724801 0.03 0.03 0.017 0.0233626 0.0308 NA 0.0735 0.0015 0.0337 0.03 NA 0.08 0.0041 0.0317 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 1.125779 NA NA 0.032093 0.005901 NA 0.014 NA 6.5720736 1003 20 9520133 9520133 G A exonic PAK7 NA synonymous SNV PAK7:NM_177990:exon10:c.C2136T:p.L712L,PAK7:NM_020341:exon11:c.C2136T:p.L712L exonic ENSG00000101349 NA synonymous SNV ENSG00000101349:ENST00000353224:exon10:c.C2136T:p.L712L,ENSG00000101349:ENST00000378423:exon11:c.C2136T:p.L712L,ENSG00000101349:ENST00000378429:exon11:c.C2136T:p.L712L Score=573;Name=lod=285 NA 20p12.2 NA NA NA NA rs6039495 0.02 0.02 0.025 0.0305511 0.0318 NA 0.0202 0.0673 0.0184 0.03 NA 0.02 0.05 0.0294 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 1.240371 1.240371 NA 0.033721 0.05833 NA 0.022 NA 6.5717456 1003 5 75932965 75932965 G C exonic IQGAP2 NA nonsynonymous SNV IQGAP2:NM_006633:exon16:c.G1887C:p.L629F exonic ENSG00000145703 NA nonsynonymous SNV ENSG00000145703:ENST00000396234:exon5:c.G546C:p.L182F,ENSG00000145703:ENST00000502745:exon5:c.G546C:p.L182F,ENSG00000145703:ENST00000514001:exon5:c.G546C:p.L182F,ENSG00000145703:ENST00000505766:exon15:c.G1737C:p.L579F,ENSG00000145703:ENST00000274364:exon16:c.G1887C:p.L629F,ENSG00000145703:ENST00000379730:exon16:c.G564C:p.L188F,ENSG00000145703:ENST00000514350:exon16:c.G1806C:p.L602F NA NA 5q13.3 NA NA NA NA rs2455230 0.55 0.55 0.528 0.553315 0.6083 0.4722 0.4928 0.5537 0.6227 0.6 0.51 0.51 0.53 0.5627 0.6 0.56 T 0.071 B 0.213 B 0.696 N 1.000 P 2.075 M 0.17 T -0.909 T 0.000 T 0.237 1.473 10.87 0.233 0.018 0.145 4.889 1.473117 1.473117 0.51 0.59093 0.556968 ID=COSM149860;OCCURENCE=1(stomach) 0.594 NA 6.5714034 1003 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$FREAC7_01 NA NA NA rs3779721 0.38 0.38 0.371 0.407348 0.3479 0.4325 0.4841 0.3026 0.5297 0.35 0.45 0.44 0.31 0.3896 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.914388 NA NA 0.358223 0.305719 NA 0.362 NA 6.5709436 1003 6 24653283 24653283 T C exonic TDP2 NA synonymous SNV TDP2:NM_016614:exon6:c.A735G:p.L245L exonic ENSG00000111802 NA synonymous SNV ENSG00000111802:ENST00000341060:exon5:c.A561G:p.L187L,ENSG00000111802:ENST00000378198:exon6:c.A735G:p.L245L,ENSG00000111802:ENST00000545995:exon6:c.A825G:p.L275L NA NA 6p22.3 NA NA Name=6 NA rs11559067 0.02 0.02 0.014 0.0119808 0.0318 0.001 0.0202 0.003 0.0092 0.03 0.0017 0.03 0.0041 0.0267 0.037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479703 NA NA 0.037442 0.008852 NA 0.014 NA 6.5707246 1003 5 95733112 95733112 A G exonic PCSK1 NA synonymous SNV PCSK1:NM_001177876:exon6:c.T720C:p.N240N,PCSK1:NM_000439:exon12:c.T1650C:p.N550N,PCSK1:NM_001177875:exon12:c.T1509C:p.N503N exonic ENSG00000175426 NA synonymous SNV ENSG00000175426:ENST00000311106:exon12:c.T1650C:p.N550N,ENSG00000175426:ENST00000508626:exon12:c.T1509C:p.N503N Score=640;Name=lod=530 NA 5q15 Score=824;Name=V$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 1003 22 39381826 39381826 A G exonic APOBEC3B NA nonsynonymous SNV APOBEC3B:NM_001270411:exon3:c.A184G:p.K62E,APOBEC3B:NM_004900:exon3:c.A184G:p.K62E exonic ENSG00000179750 NA nonsynonymous SNV ENSG00000179750:ENST00000333467:exon3:c.A184G:p.K62E,ENSG00000179750:ENST00000335760:exon3:c.A184G:p.K62E,ENSG00000179750:ENST00000402182:exon3:c.A184G:p.K62E,ENSG00000179750:ENST00000407298:exon3:c.A184G:p.K62E NA NA 22q13.1 NA NA NA NA rs2076109 0.63 0.63 0.632 0.641174 0.5974 0.628 0.5259 0.6762 0.7342 0.62 0.66 0.51 0.67 0.6016 0.69 0.46 T 0.032 B 0.009 B . . 1.000 P 0.78 N -0.14 T -0.903 T 0.000 T 0.065 0.238 5.287 -1.15 -2.941 -1.983 . 0.238307 NA 0.24 0.563872 0.687301 NA 0.558 NA 6.5704614 1003 19 52538278 52538278 A C exonic ZNF432 NA synonymous SNV ZNF432:NM_014650:exon5:c.T654G:p.S218S exonic ENSG00000256087 NA synonymous SNV ENSG00000256087:ENST00000221315:exon5:c.T654G:p.S218S,ENSG00000256087:ENST00000594154:exon5:c.T654G:p.S218S Score=457;Name=lod=96 NA 19q13.41 NA NA NA NA rs6509616 0.05 0.05 0.032 0.0477236 0.0408 0.005 0.0317 0.1203 0.0123 0.04 0.0017 0.05 0.13 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 0.429028 NA NA 0.025233 0.08897 NA 0.014 NA 6.5688336 1003 19 52520518 52520518 T C exonic ZNF614 NA synonymous SNV ZNF614:NM_025040:exon5:c.A333G:p.R111R exonic ENSG00000142556 NA synonymous SNV ENSG00000142556:ENST00000270649:exon5:c.A333G:p.R111R,ENSG00000142556:ENST00000356322:exon5:c.A333G:p.R111R Score=284;Name=lod=19 NA 19q13.41 NA NA NA NA rs73934728 0.05 0.05 0.041 0.048123 0.0408 0.006 0.0317 0.121 0.0123 0.04 0.0017 0.05 0.13 0.032 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.75438 NA NA 0.025233 0.090785 NA 0.014 NA 6.5686336 1003 22 26888060 26888060 G A exonic TFIP11 NA synonymous SNV TFIP11:NM_012143:exon15:c.C2433T:p.I811I,TFIP11:NM_001008697:exon16:c.C2433T:p.I811I exonic ENSG00000100109 NA synonymous SNV ENSG00000100109:ENST00000407148:exon14:c.C2433T:p.I811I,ENSG00000100109:ENST00000407431:exon14:c.C2433T:p.I811I,ENSG00000100109:ENST00000407690:exon15:c.C2433T:p.I811I,ENSG00000100109:ENST00000405938:exon16:c.C2433T:p.I811I NA NA 22q12.1 Score=855;Name=V$CDPCR1_01 NA NA NA rs17850763 0.02 0.02 0.011 0.0179712 0.0278 0.002 0.0259 0.0182 0.0184 0.02 0.0035 0.03 0.01 0.0314 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 1.20468 NA NA 0.03907 0.018157 NA 0.014 NA 6.5683966 1003 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 1003 22 51064068 51064068 G A exonic ARSA NA synonymous SNV ARSA:NM_000487:exon7:c.C1149T:p.D383D,ARSA:NM_001085428:exon7:c.C891T:p.D297D,ARSA:NM_001085425:exon8:c.C1149T:p.D383D,ARSA:NM_001085426:exon8:c.C1149T:p.D383D,ARSA:NM_001085427:exon8:c.C1149T:p.D383D exonic ENSG00000100299 NA synonymous SNV ENSG00000100299:ENST00000216124:exon7:c.C1149T:p.D383D,ENSG00000100299:ENST00000453344:exon7:c.C891T:p.D297D,ENSG00000100299:ENST00000547307:exon7:c.C1143T:p.D381D,ENSG00000100299:ENST00000356098:exon8:c.C1149T:p.D383D,ENSG00000100299:ENST00000395619:exon8:c.C1149T:p.D383D,ENSG00000100299:ENST00000395621:exon8:c.C1149T:p.D383D,ENSG00000100299:ENST00000547805:exon8:c.C1143T:p.D381D NA NA 22q13.33 NA NA NA NA rs6151425 0.02 0.02 0.016 0.028155 0.0258 0.001 0.0317 0.0567 0.0174 0.03 NA 0.04 0.04 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 0.826391 NA NA 0.03907 0.050159 NA 0.022 CLINSIG=non-pathogenic;CLNDBN=not_specified,not_provided;CLNREVSTAT=single,not;CLNACC=RCV000078935.1,RCV000058944.1;CLNDSDB=.,.;CLNDSDBID=.,. 6.5673966 1003 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 1003 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 1003 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$P300_01 NA NA NA rs139152 0.24 0.24 0.219 0.204073 0.3966 0.1954 0.2046 0.0545 0.2168 0.39 0.19 0.24 0.08 0.3107 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.789009 NA NA 0.393256 0.103268 NA 0.217 NA 6.5661106 1003 5 82940273 82940273 C G exonic HAPLN1 NA synonymous SNV HAPLN1:NM_001884:exon4:c.G684C:p.G228G exonic ENSG00000145681 NA synonymous SNV ENSG00000145681:ENST00000510978:exon3:c.G684C:p.G228G,ENSG00000145681:ENST00000274341:exon4:c.G684C:p.G228G Score=428;Name=lod=73 NA 5q14.3 Score=860;Name=V$FAC1_01 NA Name=2 NA rs2242128 0.73 0.73 0.738 0.738219 0.7187 0.5813 0.7565 0.8699 0.729 0.72 0.63 0.73 0.86 0.7017 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 0.327582 NA NA 0.680465 0.851566 NA 0.587 NA 6.5658016 1003 11 120827609 120827609 A G exonic GRIK4 NA synonymous SNV GRIK4:NM_014619:exon14:c.A1821G:p.Q607Q exonic ENSG00000149403 NA synonymous SNV ENSG00000149403:ENST00000438375:exon15:c.A1821G:p.Q607Q,ENSG00000149403:ENST00000527524:exon16:c.A1821G:p.Q607Q Score=543;Name=lod=214 NA 11q23.3 Score=884;Name=V$ZID_01 NA Name=5 NA rs644057 0.72 0.72 0.671 0.714657 0.6779 0.9911 0.7709 0.416 0.8313 0.7 1 0.75 0.42 0.7304 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.195634 NA NA 0.692836 0.435996 NA 0.63 NA 6.5655306 1003 3 52476246 52476246 G A exonic SEMA3G NA synonymous SNV SEMA3G:NM_020163:exon4:c.C414T:p.A138A exonic ENSG00000010319 NA synonymous SNV ENSG00000010319:ENST00000465657:exon2:c.C132T:p.A44A,ENSG00000010319:ENST00000231721:exon4:c.C414T:p.A138A,ENSG00000010319:ENST00000475739:exon5:c.C468T:p.A156A Score=419;Name=lod=67 NA 3p21.1 NA NA NA NA rs34900551 0.02 0.02 0.009 0.00978435 0.0358 NA 0.0101 0.0008 0.0051 0.05 NA 0.01 0.002 0.0279 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.365992 1.365992 NA 0.037791 0.007944 NA 0.007 NA 6.5651756 1003 8 105263979 105263979 C T exonic RIMS2 NA synonymous SNV RIMS2:NM_014677:exon22:c.C3423T:p.A1141A,RIMS2:NM_001100117:exon24:c.C3981T:p.A1327A exonic ENSG00000176406 NA synonymous SNV ENSG00000176406:ENST00000339750:exon6:c.C789T:p.A263A,ENSG00000176406:ENST00000262231:exon21:c.C3498T:p.A1166A,ENSG00000176406:ENST00000507740:exon22:c.C3423T:p.A1141A,ENSG00000176406:ENST00000406091:exon24:c.C3981T:p.A1327A,ENSG00000176406:ENST00000436393:exon28:c.C4035T:p.A1345A Score=641;Name=lod=539 NA 8q22.3 Score=805;Name=V$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 1004 5 96503523 96503523 C T exonic RIOK2 NA nonsynonymous SNV RIOK2:NM_001159749:exon8:c.G1045A:p.G349R,RIOK2:NM_018343:exon8:c.G1045A:p.G349R exonic ENSG00000058729 NA nonsynonymous SNV ENSG00000058729:ENST00000283109:exon8:c.G1045A:p.G349R,ENSG00000058729:ENST00000508447:exon8:c.G1045A:p.G349R NA NA 5q15 Score=872;Name=V$COUP_01 NA NA NA rs160632 0.55 0.55 0.514 0.557708 0.5845 0.5208 0.5749 0.5159 0.6125 0.59 0.5 0.56 0.55 0.5864 0.6 0.55 T 0.0 B 0.0 B 0.165 N 1.000 P -1.87 N 2.53 T -1.003 T 0.000 T 0.03 0.049 4.267 -0.033 -0.178 -0.249 1.488 0.048632 NA 0.57 0.597791 0.528143 NA 0.58 NA 6.5646424 1004 2 114709419 114709419 G A exonic ACTR3 NA synonymous SNV ACTR3:NM_001277140:exon10:c.G921A:p.L307L,ACTR3:NM_005721:exon10:c.G1074A:p.L358L exonic ENSG00000115091 NA synonymous SNV ENSG00000115091:ENST00000536059:exon9:c.G888A:p.L296L,ENSG00000115091:ENST00000263238:exon10:c.G1074A:p.L358L,ENSG00000115091:ENST00000535589:exon10:c.G921A:p.L307L Score=467;Name=lod=105 NA 2q14.1 NA NA NA NA rs34493552 0.02 0.02 0.018 0.0113818 0.0348 NA 0.0216 0.0008 0.0061 0.03 NA 0.03 NA 0.0282 0.039 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.097158 NA NA 0.03907 0.00749 NA 0.007 NA 6.5645966 1004 1 51912760 51912760 T G exonic EPS15 NA synonymous SNV EPS15:NM_001981:exon10:c.A669C:p.A223A exonic ENSG00000085832 NA synonymous SNV ENSG00000085832:ENST00000371730:exon10:c.A669C:p.A223A,ENSG00000085832:ENST00000371733:exon10:c.A669C:p.A223A Score=637;Name=lod=516 NA 1p32.3 NA NA NA NA rs34704431 0.04 0.04 0.043 0.0469249 0.0328 0.0109 0.0274 0.0983 0.0429 0.03 0.02 0.03 0.09 0.0376 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.790133 NA NA 0.031744 0.07921 NA 0.043 NA 6.5645226 1004 17 7673922 7673922 A T exonic DNAH2 NA synonymous SNV DNAH2:NM_020877:exon25:c.A4146T:p.I1382I exonic ENSG00000183914 NA synonymous SNV ENSG00000183914:ENST00000389173:exon25:c.A4146T:p.I1382I,ENSG00000183914:ENST00000572933:exon26:c.A4146T:p.I1382I NA NA 17p13.1 Score=742;Name=V$SRF_01 NA NA NA rs9910089 0.05 0.05 0.054 0.0529153 0.0368 NA 0.0259 0.1301 0.0389 0.04 NA 0.04 0.14 0.0367 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.40569 1.40569 NA 0.028837 0.099637 NA 0.036 NA 6.5643296 1004 7 6449967 6449967 T G exonic DAGLB NA synonymous SNV DAGLB:NM_001142936:exon12:c.A1227C:p.G409G,DAGLB:NM_139179:exon14:c.A1614C:p.G538G exonic ENSG00000164535 NA synonymous SNV ENSG00000164535:ENST00000425398:exon12:c.A1227C:p.G409G,ENSG00000164535:ENST00000297056:exon14:c.A1614C:p.G538G,ENSG00000164535:ENST00000436575:exon14:c.A1491C:p.G497G NA NA 7p22.1 NA Name=Pol2 NA NA rs77154720 0.02 0.02 0.024 0.0161741 0.0417 NA 0.0331 NA 0.0164 0.04 NA 0.04 NA 0.0252 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 -1.12432 NA NA 0.036628 0.006355 NA 0.065 NA 6.5631386 1004 19 1388538 1388538 C T exonic NDUFS7 NA nonsynonymous SNV NDUFS7:NM_024407:exon3:c.C68T:p.P23L exonic ENSG00000115286 NA nonsynonymous SNV ENSG00000115286:ENST00000233627:exon3:c.C68T:p.P23L,ENSG00000115286:ENST00000313408:exon3:c.C68T:p.P23L,ENSG00000115286:ENST00000414651:exon3:c.C68T:p.P23L,ENSG00000115286:ENST00000539480:exon3:c.C68T:p.P23L,ENSG00000115286:ENST00000546283:exon4:c.C68T:p.P23L NA NA 19p13.3 NA NA NA NA rs1142530 0.44 0.44 0.445 0.455671 0.5974 0.3264 0.4813 0.3585 0.5562 0.61 0.33 0.48 0.29 0.5502 0.62 0.49 T 0.01 B 0.001 B 0.640 U 1.000 P 0 N 0.11 T -0.919 T 0.000 T 0.135 0.552 6.986 0.837 0.164 0.885 4.567 0.551973 NA 0.17 0.622876 0.380109 NA 0.348 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117716.2;CLNDSDB=.;CLNDSDBID=. 6.5628574 1004 6 157739931 157739931 T C exonic TMEM242 NA synonymous SNV TMEM242:NM_018452:exon3:c.A210G:p.A70A exonic ENSG00000215712 NA synonymous SNV ENSG00000215712:ENST00000367144:exon3:c.A210G:p.A70A,ENSG00000215712:ENST00000400788:exon3:c.A210G:p.A70A Score=467;Name=lod=105 NA 6q25.3 NA NA NA NA rs140795384 0.02 0.02 0.009 0.0147764 0.0278 NA 0.0432 0.0008 0.0153 0.02 NA 0.04 NA 0.0345 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 1.658136 1.658136 NA 0.041707 0.008307 NA 0.007 NA 6.5626596 1004 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=TAF1,Pol2-4H8,ELF1_(SC-631),HEY1,FOSL2,Pol2,USF-1,USF1_(SC-8983),TAF7_(SQ-8),Pol2(b),TBP,JunD,Rad21,c-Myc,SP1,NRSF 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 1004 22 26866723 26866723 C T exonic HPS4 NA synonymous SNV HPS4:NM_152841:exon5:c.G543A:p.S181S,HPS4:NM_022081:exon7:c.G558A:p.S186S exonic ENSG00000100099 NA synonymous SNV ENSG00000100099:ENST00000398141:exon5:c.G543A:p.S181S,ENSG00000100099:ENST00000402105:exon5:c.G543A:p.S181S,ENSG00000100099:ENST00000336873:exon7:c.G558A:p.S186S,ENSG00000100099:ENST00000398145:exon7:c.G558A:p.S186S,ENSG00000100099:ENST00000422379:exon7:c.G558A:p.S186S NA NA 22q12.1 NA NA Name=4 NA rs13054747 0.02 0.02 0.014 0.0215655 0.0298 0.003 0.0317 0.0265 0.0184 0.02 0.0035 0.04 0.02 0.0316 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 0.861708 NA NA 0.042674 0.026782 ID=COSM1415364,COSM1415363;OCCURENCE=1(large_intestine) 0.014 NA 6.5625926 1004 19 12920935 12920935 G A exonic RNASEH2A NA synonymous SNV RNASEH2A:NM_006397:exon5:c.G462A:p.Q154Q exonic ENSG00000104889 NA synonymous SNV ENSG00000104889:ENST00000221486:exon5:c.G462A:p.Q154Q Score=483;Name=lod=123 NA 19p13.2 NA NA NA NA rs7257575 0.06 0.06 0.052 0.0626997 0.0249 0.0119 0.0778 0.1573 0.0153 0.03 0.02 0.06 0.16 0.0466 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023287 NA NA 0.032674 0.139809 NA 0.043 NA 6.5624926 1004 9 95274338 95274338 A G exonic ECM2 NA synonymous SNV ECM2:NM_001197295:exon5:c.T1059C:p.S353S,ECM2:NM_001197296:exon5:c.T1059C:p.S353S,ECM2:NM_001393:exon5:c.T1125C:p.S375S exonic ENSG00000106823 NA synonymous SNV ENSG00000106823:ENST00000344604:exon5:c.T1125C:p.S375S,ENSG00000106823:ENST00000444490:exon5:c.T1059C:p.S353S Score=543;Name=lod=215 NA 9q22.31 Score=843;Name=V$POU6F1_01 NA NA NA rs2296667 0.38 0.38 0.411 0.407348 0.3618 0.1528 0.2896 0.7844 0.2904 0.34 0.16 0.31 0.74 0.3607 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.22944 NA NA 0.381744 0.695188 NA 0.391 NA 6.5624226 1004 10 98411293 98411293 G A exonic PIK3AP1 NA synonymous SNV PIK3AP1:NM_152309:exon5:c.C828T:p.A276A exonic ENSG00000155629 NA synonymous SNV ENSG00000155629:ENST00000371110:exon4:c.C294T:p.A98A,ENSG00000155629:ENST00000339364:exon5:c.C828T:p.A276A Score=543;Name=lod=214 NA 10q24.1 NA NA NA NA rs35668691 0.02 0.02 0.015 0.0153754 0.0427 NA 0.0303 0.003 0.0092 0.03 NA 0.03 0.01 0.0262 0.036 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.189979 NA NA 0.035698 0.004085 NA 0.014 NA 6.5620686 1004 1 23688933 23688933 A G exonic ZNF436 NA synonymous SNV ZNF436:NM_030634:exon3:c.T942C:p.N314N,ZNF436:NM_001077195:exon4:c.T942C:p.N314N exonic ENSG00000125945 NA synonymous SNV ENSG00000125945:ENST00000374608:exon3:c.T942C:p.N314N,ENSG00000125945:ENST00000314011:exon4:c.T942C:p.N314N Score=511;Name=lod=159 NA 1p36.12 Score=851;Name=V$IK1_01 Name=SETDB1,eGFP-JunD,ZNF274,KAP1 NA NA rs2849028 0.57 0.57 0.542 0.509984 0.7256 0.6349 0.6499 0.1861 0.498 0.73 0.61 0.66 0.2 0.6487 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 0.223277 NA NA 0.731395 0.278484 NA 0.478 NA 6.5609716 1004 6 30711805 30711805 C G exonic IER3 NA nonsynonymous SNV IER3:NM_003897:exon2:c.G379C:p.A127P exonic ENSG00000137331 NA nonsynonymous SNV ENSG00000137331:ENST00000259874:exon2:c.G379C:p.A127P NA NA 6p21.33 NA Name=Pol2-4H8,Pol2(b) NA NA rs3094124 0.95 0.95 0.965 0.96845 0.9175 0.9931 0.9352 0.9977 0.9796 0.91 0.99 0.93 1 0.9426 1 0.45 T 0.0 B 0.0 B . . 1.000 P -1.95 N 0.92 T -0.974 T 0.010 T 0.032 -1.792 0.01 3.5 0.481 0.814 10.715 -1.791872 NA 1 0.912326 0.981608 NA 0.942 NA 6.5609074 1004 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 1004 1 117617705 117617705 A G exonic TTF2 NA nonsynonymous SNV TTF2:NM_003594:exon5:c.A499G:p.K167E exonic ENSG00000116830 NA nonsynonymous SNV ENSG00000116830:ENST00000369466:exon5:c.A499G:p.K167E NA NA 1p13.1 NA NA NA NA rs998532 0.54 0.54 0.491 0.514577 0.5934 0.7679 0.6671 0.1157 0.6033 0.58 0.76 0.66 0.11 0.5755 0.76 0.08 T 0.208 B 0.063 B 0.018 N 1.000 P 0.77 N -2.32 D -0.932 T 0.224 T 0.078 0.831 8.352 0.438 0.102 0.349 5.315 0.831161 NA 0.26 0.603953 0.206537 NA 0.5 NA 6.5604804 1004 10 29839787 29839787 A G exonic SVIL NA nonsynonymous SNV SVIL:NM_021738:exon6:c.T566C:p.V189A,SVIL:NM_003174:exon8:c.T566C:p.V189A exonic ENSG00000197321 NA nonsynonymous SNV ENSG00000197321:ENST00000355867:exon6:c.T566C:p.V189A,ENSG00000197321:ENST00000375398:exon8:c.T566C:p.V189A,ENSG00000197321:ENST00000375400:exon8:c.T566C:p.V189A NA NA 10p11.23 NA NA NA NA rs10160013 0.31 0.31 0.277 0.307907 0.2386 0.3462 0.2651 0.4228 0.2147 0.24 0.33 0.27 0.41 0.2731 0.42 . . 0.0 B 0.0 B 0.408 N 1.000 P 0 N 1.03 T -0.946 T 0.000 T 0.034 0.323 5.753 -0.679 -0.477 -0.415 2.304 0.323264 NA 0.79 0.261163 0.416024 ID=COSM146920;OCCURENCE=1(stomach) 0.341 NA 6.5604704 1004 17 42475557 42475557 C T exonic GPATCH8 NA synonymous SNV GPATCH8:NM_001002909:exon8:c.G3888A:p.G1296G exonic ENSG00000186566 NA synonymous SNV ENSG00000186566:ENST00000591680:exon8:c.G3888A:p.G1296G,ENSG00000186566:ENST00000434000:exon9:c.G3654A:p.G1218G Score=397;Name=lod=55 NA 17q21.31 NA NA NA NA rs61746719 0.02 0.02 0.016 0.0147764 0.0477 NA 0.0115 NA 0.0184 0.05 NA 0.01 NA 0.0242 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 -0.344466 NA NA 0.035465 0.010213 NA 0.014 NA 6.5593016 1004 1 21071419 21071419 G A exonic HP1BP3 NA synonymous SNV HP1BP3:NM_016287:exon13:c.C1533T:p.P511P exonic ENSG00000127483 NA synonymous SNV ENSG00000127483:ENST00000375003:exon9:c.C1077T:p.P359P,ENSG00000127483:ENST00000312239:exon13:c.C1533T:p.P511P Score=683;Name=lod=795 NA 1p36.12 NA NA NA NA rs17448349 0.02 0.02 0.011 0.0131789 0.0417 NA 0.0202 0.0023 0.0072 0.05 NA 0.03 0.0041 0.0295 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 0.567035 NA NA 0.036744 0.009759 NA 0.022 NA 6.5587226 1004 7 2954962 2954962 G A exonic CARD11 NA synonymous SNV CARD11:NM_032415:exon21:c.C2748T:p.N916N exonic ENSG00000198286 NA synonymous SNV ENSG00000198286:ENST00000396946:exon21:c.C2748T:p.N916N Score=456;Name=lod=95 NA 7p22.2 NA NA NA NA rs61731201 0.03 0.03 0.014 0.0241613 0.0268 0.001 0.1052 0.0015 0.0184 0.03 0.0017 0.1 0.0041 0.042 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 0.467273 NA NA 0.039186 0.011802 NA 0.022 NA 6.5586806 1004 1 21076274 21076274 G A exonic HP1BP3 NA synonymous SNV HP1BP3:NM_016287:exon10:c.C1083T:p.T361T exonic ENSG00000127483 NA synonymous SNV ENSG00000127483:ENST00000375003:exon6:c.C627T:p.T209T,ENSG00000127483:ENST00000419948:exon6:c.C660T:p.T220T,ENSG00000127483:ENST00000312239:exon10:c.C1083T:p.T361T Score=755;Name=lod=1564 NA 1p36.12 NA NA NA NA rs12729575 0.02 0.02 0.015 0.0131789 0.0417 NA 0.0202 0.0023 0.0072 0.05 NA 0.03 0.0041 0.0296 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 1.095293 NA NA 0.03686 0.009759 NA 0.022 NA 6.5585066 1004 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 1004 17 39616430 39616430 G T exonic KRT32 NA nonsynonymous SNV KRT32:NM_002278:exon7:c.C1279A:p.P427T exonic ENSG00000108759 NA nonsynonymous SNV ENSG00000108759:ENST00000225899:exon7:c.C1279A:p.P427T NA NA 17q21.2 NA NA NA NA rs2604953 0.84 0.84 0.824 0.819489 0.9463 0.7748 0.781 0.7489 0.8579 0.95 0.81 0.79 0.76 0.8829 0.95 0.22 T 0.295 B 0.055 B 0.494 N 1.000 P 2.125 M -2.21 D -0.986 T 0.000 T 0.11 0.904 8.676 0.565 0.050 -0.026 3.116 0.903949 NA 0.23 0.945918 0.776567 NA 0.819 NA 6.5582154 1004 19 52033742 52033742 G A exonic SIGLEC6 NA nonsynonymous SNV SIGLEC6:NM_001177548:exon4:c.C736T:p.P246S exonic ENSG00000105492 NA nonsynonymous SNV ENSG00000105492:ENST00000359982:exon4:c.C736T:p.P246S NA NA 19q13.41 NA NA NA NA rs2305772 0.56 0.56 0.53 0.580471 0.5845 0.4643 0.6945 0.5613 0.6411 0.59 0.46 0.66 0.54 0.5952 0.66 . . 0.928 P 0.732 P . . 0.999 P -0.345 N 1.52 T -0.982 T 0.000 T 0.01 -0.304 2.55 -0.917 0.164 -0.587 5.191 -0.304298 NA 0.73 0.595553 0.590343 NA 0.58 NA 6.5580804 1004 8 17503612 17503612 C G exonic MTUS1 NA synonymous SNV MTUS1:NM_020749:exon10:c.G1134C:p.S378S,MTUS1:NM_001001931:exon12:c.G1377C:p.S459S,MTUS1:NM_001166393:exon12:c.G1071C:p.S357S,MTUS1:NM_001001925:exon14:c.G3474C:p.S1158S,MTUS1:NM_001001924:exon15:c.G3636C:p.S1212S exonic ENSG00000129422 NA synonymous SNV ENSG00000129422:ENST00000400046:exon9:c.G852C:p.S284S,ENSG00000129422:ENST00000297488:exon10:c.G1134C:p.S378S,ENSG00000129422:ENST00000381861:exon12:c.G1377C:p.S459S,ENSG00000129422:ENST00000544260:exon12:c.G1071C:p.S357S,ENSG00000129422:ENST00000519263:exon13:c.G3474C:p.S1158S,ENSG00000129422:ENST00000381869:exon14:c.G3474C:p.S1158S,ENSG00000129422:ENST00000262102:exon15:c.G3636C:p.S1212S NA NA 8p22 Score=825;Name=V$OLF1_01 NA NA NA rs61733704 0.02 0.02 0.019 0.0153754 0.0388 NA 0.0115 0.0015 0.0286 0.05 NA 0.02 0.002 0.0306 0.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.644688 NA NA 0.039966 0.0056 NA 0.022 NA 6.5573006 1004 19 52618506 52618506 C T exonic ZNF616 NA synonymous SNV ZNF616:NM_178523:exon4:c.G1911A:p.Q637Q exonic ENSG00000204611 NA synonymous SNV ENSG00000204611:ENST00000600228:exon4:c.G1911A:p.Q637Q NA NA 19q13.41 NA Name=SETDB1,KAP1 NA NA rs45591734 0.02 0.02 0.017 0.0247604 0.0427 0.0119 0.0259 0.0008 0.0511 0.04 0.01 0.04 0.002 0.0345 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1488 NA NA 0.032791 0.005447 NA 0.007 NA 6.5566756 1004 20 62598815 62598815 C T exonic ZNF512B NA synonymous SNV ZNF512B:NM_020713:exon3:c.G183A:p.P61P exonic ENSG00000196700 NA synonymous SNV ENSG00000196700:ENST00000217130:exon3:c.G183A:p.P61P,ENSG00000196700:ENST00000369888:exon3:c.G183A:p.P61P,ENSG00000196700:ENST00000450537:exon3:c.G183A:p.P61P Score=391;Name=lod=52 NA 20q13.33 Score=734;Name=V$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 1004 3 179143941 179143941 A G exonic GNB4 NA synonymous SNV GNB4:NM_021629:exon2:c.T48C:p.N16N exonic ENSG00000114450 NA synonymous SNV ENSG00000114450:ENST00000232564:exon2:c.T48C:p.N16N,ENSG00000114450:ENST00000468623:exon2:c.T48C:p.N16N,ENSG00000114450:ENST00000497513:exon3:c.T48C:p.N16N Score=513;Name=lod=162 NA 3q26.33 NA NA NA NA rs1078749 0.03 0.03 0.021 0.0231629 0.0358 0.001 0.0519 0.0219 0.0143 0.03 NA 0.06 0.03 0.0338 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 1.193874 NA NA 0.041279 0.024285 NA 0.043 NA 6.5557876 1004 6 170144194 170144194 T C exonic TCTE3 NA synonymous SNV TCTE3:NM_174910:exon2:c.A297G:p.S99S exonic ENSG00000184786 NA synonymous SNV ENSG00000184786:ENST00000366774:exon2:c.A297G:p.S99S Score=393;Name=lod=53 NA 6q27 NA NA NA NA rs2274954 0.09 0.09 0.084 0.115016 0.0249 0.1716 0.1239 0.1331 0.1186 0.03 0.16 0.1 0.1 0.0677 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.170424 NA NA 0.018493 0.138738 NA 0.101 NA 6.5555736 1005 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$TAXCREB_01 Name=c-Myc,HA-E2F1,Pol2 Name=6 NA rs28732234 0.12 0.12 0.095 0.121006 0.1789 0.0526 0.1138 0.0976 0.1687 0.18 0.05 0.12 0.11 0.1247 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176318 NA NA 0.141888 0.09532 NA 0.13 NA 6.554512 1005 11 123524411 123524411 G A intronic SCN3B NA NA NA intronic ENSG00000166257 NA NA NA NA NA 11q24.1 Score=781;Name=V$MEF2_03 Name=CTCF Name=9 NA rs3851102 0.16 0.16 0.145 0.142173 0.161 0.127 0.2406 0.1399 0.0716 0.15 0.16 0.21 0.14 0.1456 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.271861 1.271861 NA 0.139451 0.133061 NA 0.246 NA 6.553949 1005 11 123848212 123848212 C T exonic OR10S1 NA nonsynonymous SNV OR10S1:NM_001004474:exon1:c.G187A:p.G63S exonic ENSG00000196248 NA nonsynonymous SNV ENSG00000196248:ENST00000531945:exon1:c.G187A:p.G63S NA NA 11q24.1 NA NA NA NA rs17759513 0.2 0.2 0.197 0.173123 0.2903 0.1171 0.2147 0.1301 0.1391 0.27 0.13 0.24 0.13 0.232 0.27 0.4 T 0.01 B 0.003 B 0.528 U 1.000 P -0.32 N 5.37 T -0.950 T 0.000 T 0.089 1.155 9.701 1.9 0.668 -0.391 4.521 1.154552 NA 0.44 0.258083 0.149864 NA 0.13 NA 6.5529504 1005 16 57938755 57938755 A G exonic CNGB1 NA synonymous SNV CNGB1:NM_001297:exon26:c.T2517C:p.A839A exonic ENSG00000070729 NA synonymous SNV ENSG00000070729:ENST00000251102:exon26:c.T2517C:p.A839A,ENSG00000070729:ENST00000564448:exon26:c.T2499C:p.A833A Score=583;Name=lod=313 NA 16q21 NA NA NA NA rs17821412 0.02 0.02 0.011 0.0119808 0.0497 NA 0.0072 0.003 0.001 0.05 NA 0.01 NA 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 1.398999 1.398999 NA 0.03506 0.005949 NA 0.014 NA 6.5527066 1005 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 1005 22 46722400 46722400 T C exonic GTSE1 NA nonsynonymous SNV GTSE1:NM_016426:exon9:c.T1573C:p.W525R exonic ENSG00000075218 NA nonsynonymous SNV ENSG00000075218:ENST00000454366:exon9:c.T1573C:p.W525R NA NA 22q13.31 NA NA NA NA rs140054 0.95 0.95 0.963 0.971645 0.9195 1 0.9352 0.9947 0.9908 0.92 1 0.91 0.99 0.9436 1 1 T 0.0 B 0.0 B 0.996 N 1.000 P -1.995 N 3.58 T -0.974 T 0.000 T 0.07 -1.57 0.015 -3.82 -1.400 -0.408 2.371 -1.569631 NA 1 0.918605 0.983205 NA 0.957 NA 6.5516284 1005 5 67575548 67575548 T C exonic PIK3R1 NA synonymous SNV PIK3R1:NM_181523:exon5:c.T621C:p.I207I exonic ENSG00000145675 NA synonymous SNV ENSG00000145675:ENST00000274335:exon4:c.T621C:p.I207I,ENSG00000145675:ENST00000396611:exon4:c.T621C:p.I207I,ENSG00000145675:ENST00000520675:exon4:c.T327C:p.I109I,ENSG00000145675:ENST00000521381:exon5:c.T621C:p.I207I,ENSG00000145675:ENST00000521657:exon5:c.T621C:p.I207I Score=586;Name=lod=321 NA 5q13.1 NA NA NA NA rs61749601 0.02 0.02 0.014 0.019369 0.0378 NA 0.0173 0.0015 0.046 0.04 NA 0.01 0.002 0.0358 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 1.452932 1.452932 NA 0.041512 0.006355 NA 0.007 NA 6.5515546 1005 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 1005 8 10583506 10583506 A G exonic SOX7 NA synonymous SNV SOX7:NM_031439:exon2:c.T909C:p.L303L exonic ENSG00000171056,ENSG00000258724 NA synonymous SNV ENSG00000171056:ENST00000304501:exon2:c.T909C:p.L303L,ENSG00000171056:ENST00000553390:exon6:c.T1065C:p.L355L,ENSG00000258724:ENST00000554914:exon6:c.T1065C:p.L355L Score=517;Name=lod=168 NA 8p23.1 Score=876;Name=V$MAZR_01 NA NA NA rs4841432 0.42 0.42 0.498 0.432708 0.3777 0.1359 0.3833 0.8389 0.2812 0.37 0.17 0.38 0.84 0.3709 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 0.757615 NA NA 0.368256 0.738538 NA 0.449 NA 6.5498106 1005 20 168728 168728 T A exonic DEFB128 NA nonsynonymous SNV DEFB128:NM_001037732:exon2:c.A81T:p.K27N exonic ENSG00000185982 NA nonsynonymous SNV ENSG00000185982:ENST00000334391:exon2:c.A81T:p.K27N NA NA 20p13 NA NA NA NA rs4813043 0.62 0.62 0.63 0.610423 0.6093 0.4554 0.5922 0.7867 0.546 0.61 0.49 0.58 0.82 0.5851 0.82 1 T 0.0 B 0.0 B 0.102 N 1.000 P . . 2.78 T -0.995 T 0.000 T 0.036 -1.322 0.033 -2.27 -0.792 -0.829 2.107 -1.321692 NA 1 0.589302 0.756241 NA 0.812 NA 6.5496314 1005 17 42335387 42335387 G A exonic SLC4A1 NA synonymous SNV SLC4A1:NM_000342:exon11:c.C1249T:p.L417L exonic ENSG00000004939 NA synonymous SNV ENSG00000004939:ENST00000262418:exon11:c.C1249T:p.L417L Score=423;Name=lod=70 NA 17q21.31 NA NA NA NA rs5015 0.02 0.02 0.023 0.0189696 0.0408 NA 0.036 0.003 0.0256 0.04 NA 0.02 0.01 0.0325 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 1.004749 NA NA 0.04407 0.009759 NA 0.029 NA 6.5492966 1005 16 2812939 2812939 C A exonic SRRM2 NA nonsynonymous SNV SRRM2:NM_016333:exon11:c.C2410A:p.P804T exonic ENSG00000167978 NA nonsynonymous SNV ENSG00000167978:ENST00000571378:exon10:c.C2122A:p.P708T,ENSG00000167978:ENST00000301740:exon11:c.C2410A:p.P804T,ENSG00000167978:ENST00000576924:exon11:c.C2410A:p.P804T NA NA 16p13.3 NA NA NA NA rs2240140 0.42 0.42 0.378 0.414337 0.6262 0.372 0.6873 0.0242 0.5736 0.64 0.34 0.65 0.02 0.5481 0.65 0.69 T 0.0 B 0.001 B 0.058 N 1.000 P 0.805 L 1.74 T -0.957 T 0.000 T 0.245 -1.694 0.011 3.39 0.628 0.748 4.361 -1.693981 NA 0.77 0.61 0.132621 NA 0.384 NA 6.5490334 1005 2 55771161 55771161 A G exonic CCDC104 NA nonsynonymous SNV CCDC104:NM_080667:exon8:c.A728G:p.D243G exonic ENSG00000163001 NA nonsynonymous SNV ENSG00000163001:ENST00000349456:exon8:c.A728G:p.D243G,ENSG00000163001:ENST00000407816:exon8:c.A641G:p.D214G,ENSG00000163001:ENST00000339012:exon9:c.A803G:p.D268G Score=251;Name=lod=14 NA 2p16.1 NA NA NA NA rs1045910 0.83 0.83 0.826 0.826278 0.9414 0.4821 0.8977 0.9849 0.7975 0.95 0.5 0.91 0.99 0.8996 0.99 0.91 T 0.0 B 0.0 B 0.007 N 0.001 P -1.39 N 2.31 T -0.993 T 0.000 T 0.082 0.44 6.39 2.01 0.098 0.262 8.478 0.440033 NA 0.09 0.943372 0.973899 NA 0.899 NA 6.5489614 1005 X 15415583 15415583 C T exonic PIR NA synonymous SNV PIR:NM_001018109:exon8:c.G681A:p.Q227Q,PIR:NM_003662:exon8:c.G681A:p.Q227Q exonic ENSG00000087842 NA synonymous SNV ENSG00000087842:ENST00000380420:exon8:c.G681A:p.Q227Q,ENSG00000087842:ENST00000380421:exon8:c.G681A:p.Q227Q Score=399;Name=lod=56 NA Xp22.2 Score=709;Name=V$PPARG_02 NA NA NA rs8094 0.47 0.47 0.45628 NA NA NA NA NA NA 0.59 0.46 0.47 0.31 0.5363 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42045 NA NA 0.581451 0.331421 ID=COSM150767;OCCURENCE=1(stomach) 0.42 NA 6.5489156 1005 3 121825197 121825197 G A exonic CD86 NA nonsynonymous SNV CD86:NM_001206924:exon3:c.G217A:p.V73I,CD86:NM_001206925:exon3:c.G307A:p.V103I,CD86:NM_006889:exon4:c.G535A:p.V179I,CD86:NM_175862:exon4:c.G553A:p.V185I,CD86:NM_176892:exon4:c.G535A:p.V179I exonic ENSG00000114013 NA nonsynonymous SNV ENSG00000114013:ENST00000469710:exon3:c.G307A:p.V103I,ENSG00000114013:ENST00000493101:exon3:c.G217A:p.V73I,ENSG00000114013:ENST00000330540:exon4:c.G553A:p.V185I,ENSG00000114013:ENST00000393627:exon4:c.G535A:p.V179I NA NA 3q13.33 Score=806;Name=V$OCT1_04 NA NA NA rs2681417 0.89 0.89 0.857 0.868011 0.9404 0.998 0.9409 0.6634 0.8845 0.93 1 0.93 0.65 0.9138 1 0.29 T 0.009 B 0.012 B 0.821 N 1.000 P 1.735 L 4.48 T -1.015 T 0.000 T 0.131 2.075 12.9 -1.9 -0.260 -1.157 6.166 2.075267 2.075267 0.49 0.930465 0.687926 NA 0.819 NA 6.5486684 1005 20 62340115 62340115 C G exonic ZGPAT NA nonsynonymous SNV ZGPAT:NM_001083113:exon2:c.C183G:p.S61R,ZGPAT:NM_001195653:exon2:c.C183G:p.S61R,ZGPAT:NM_001195654:exon2:c.C183G:p.S61R,ZGPAT:NM_032527:exon2:c.C183G:p.S61R,ZGPAT:NM_181485:exon2:c.C183G:p.S61R exonic ENSG00000197114 NA nonsynonymous SNV ENSG00000197114:ENST00000328969:exon2:c.C183G:p.S61R,ENSG00000197114:ENST00000355969:exon2:c.C183G:p.S61R,ENSG00000197114:ENST00000357119:exon2:c.C183G:p.S61R,ENSG00000197114:ENST00000369967:exon2:c.C183G:p.S61R,ENSG00000197114:ENST00000431125:exon2:c.C183G:p.S61R,ENSG00000197114:ENST00000448100:exon2:c.C183G:p.S61R Score=510;Name=lod=157 NA 20q13.33 NA NA Name=30 NA rs1291212 0.96 0.96 0.963 0.974241 0.9155 0.995 0.9597 0.997 0.9928 0.92 0.99 0.94 0.99 0.9462 0.99 0.65 T 0.001 B 0.0 B 0.001 N 1.000 P -0.895 N 1.45 T -1.017 T 0.000 T 0.086 1.164 9.737 1.2 -0.012 0.164 4.951 1.16375 NA 0.45 0.923238 0.983205 ID=COSM444235;OCCURENCE=2(breast) 0.978 NA 6.5483954 1005 4 100443800 100443800 G A exonic C4orf17 NA nonsynonymous SNV C4orf17:NM_032149:exon3:c.G271A:p.E91K exonic ENSG00000138813 NA nonsynonymous SNV ENSG00000138813:ENST00000326581:exon3:c.G271A:p.E91K,ENSG00000138813:ENST00000477187:exon3:c.G271A:p.E91K,ENSG00000138813:ENST00000514652:exon3:c.G271A:p.E91K NA NA 4q23 NA NA NA NA rs17029087 0.18 0.18 0.171 0.20607 0.2744 0.1161 0.1873 0.1838 0.272 0.26 0.12 0.19 0.13 0.2367 0.27 0.31 T 0.042 B 0.068 B 0.013 N 1.000 P 1.845 L 2.25 T -0.969 T 0.000 T 0.048 1.677 11.57 0.478 0.048 0.370 7.652 1.677464 1.677464 0.5 0.273953 0.200862 NA 0.239 NA 6.5482804 1005 2 200790216 200790216 C T exonic C2orf69 NA synonymous SNV C2orf69:NM_153689:exon2:c.C765T:p.D255D exonic ENSG00000178074 NA synonymous SNV ENSG00000178074:ENST00000319974:exon2:c.C765T:p.D255D Score=645;Name=lod=556 NA 2q33.1 NA NA NA NA rs12476690 0.07 0.07 0.065 0.077476 0.0258 0.1657 0.0893 0.0023 0.1329 0.02 0.19 0.06 0.002 0.0576 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 -0.555625 NA NA 0.03533 0.009179 NA 0.029 NA 6.5479366 1005 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 1005 4 62845490 62845490 A G exonic LPHN3 NA synonymous SNV LPHN3:NM_015236:exon15:c.A2811G:p.P937P exonic ENSG00000150471 NA synonymous SNV ENSG00000150471:ENST00000504896:exon15:c.A2811G:p.P937P,ENSG00000150471:ENST00000506700:exon15:c.A2811G:p.P937P,ENSG00000150471:ENST00000508946:exon15:c.A2811G:p.P937P,ENSG00000150471:ENST00000514157:exon15:c.A2811G:p.P937P,ENSG00000150471:ENST00000514996:exon15:c.A2811G:p.P937P,ENSG00000150471:ENST00000545650:exon15:c.A2811G:p.P937P,ENSG00000150471:ENST00000506720:exon16:c.A3015G:p.P1005P,ENSG00000150471:ENST00000506746:exon16:c.A3015G:p.P1005P,ENSG00000150471:ENST00000507164:exon16:c.A3015G:p.P1005P,ENSG00000150471:ENST00000507625:exon16:c.A3015G:p.P1005P,ENSG00000150471:ENST00000508693:exon16:c.A3015G:p.P1005P,ENSG00000150471:ENST00000509896:exon16:c.A3015G:p.P1005P,ENSG00000150471:ENST00000511324:exon16:c.A3015G:p.P1005P,ENSG00000150471:ENST00000512091:exon17:c.A2811G:p.P937P,ENSG00000150471:ENST00000514591:exon17:c.A2811G:p.P937P Score=464;Name=lod=103 NA 4q13.1 Score=916;Name=V$ZIC1_01 NA NA NA rs1397548 0.53 0.53 0.503 0.499401 0.7435 0.3948 0.5663 0.3533 0.5061 0.73 0.38 0.59 0.36 0.6273 0.75 . . . . . . . . 0.000 P . . . . -0.995 T 0.000 T . -0.225 2.911 -1.99 -0.558 0.349 4.716 -0.225293 NA NA 0.748093 0.434497 NA 0.551 NA 6.5477736 1005 7 16816000 16816000 T C exonic TSPAN13 NA synonymous SNV TSPAN13:NM_014399:exon2:c.T228C:p.F76F exonic ENSG00000106537 NA synonymous SNV ENSG00000106537:ENST00000262067:exon2:c.T228C:p.F76F Score=478;Name=lod=117 NA 7p21.1 Score=836;Name=V$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 1005 19 39926509 39926509 A C exonic RPS16 NA synonymous SNV RPS16:NM_001020:exon1:c.T27G:p.S9S exonic ENSG00000105193 NA synonymous SNV ENSG00000105193:ENST00000251453:exon1:c.T27G:p.S9S,ENSG00000105193:ENST00000339471:exon1:c.T27G:p.S9S,ENSG00000105193:ENST00000599539:exon1:c.T27G:p.S9S,ENSG00000105193:ENST00000601655:exon1:c.T27G:p.S9S NA NA 19q13.2 Score=884;Name=V$AP4_01 Name=Sin3Ak-20,Mxi1_(bHLH),NRSF,PAX5-C20,YY1_(C-20),Max,SP1,TAL1_(SC-12984),SRF,Oct-2,c-Myc,STAT2,GTF2F1_(RAP-74),GR,JunD,TR4,CCNT2,TBP,Pol2(b),ELK4,YY1,BRCA1_(C-1863),TAF7_(SQ-8),Ini1,TCF12,GTF2B,CTCF,POU2F2,Pol2(phosphoS2),USF-1,Pol2,HA-E2F1,ETS1,NELFe,ELF1_(SC-631),HEY1,NFKB,TAF1,ZEB1_(SC-25388),GABP,MEF2A,Pol2-4H8 NA NA rs17628 0.48 0.48 0.468 0.511382 0.3827 0.5506 0.379 0.7126 0.4254 0.38 0.5 0.35 0.68 0.3972 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.906134 1.906134 NA 0.340116 0.643279 NA 0.449 NA 6.5466506 1005 1 21044161 21044161 A G exonic KIF17 NA synonymous SNV KIF17:NM_001122819:exon1:c.T39C:p.R13R,KIF17:NM_020816:exon1:c.T39C:p.R13R exonic ENSG00000117245 NA synonymous SNV ENSG00000117245:ENST00000247986:exon1:c.T39C:p.R13R,ENSG00000117245:ENST00000400463:exon1:c.T39C:p.R13R Score=561;Name=lod=255 NA 1p36.12 NA Name=GATA-2 Name=22 NA rs601329 0.74 0.74 0.71 0.712061 0.7167 0.8879 0.621 0.6006 0.7413 0.72 0.9 0.61 0.66 0.7131 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 1.748959 1.748959 NA 0.690235 0.629144 NA 0.42 NA 6.5466316 1005 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 1005 19 39926521 39926521 G A exonic RPS16 NA synonymous SNV RPS16:NM_001020:exon1:c.C15T:p.G5G exonic ENSG00000105193 NA synonymous SNV ENSG00000105193:ENST00000251453:exon1:c.C15T:p.G5G,ENSG00000105193:ENST00000339471:exon1:c.C15T:p.G5G,ENSG00000105193:ENST00000599539:exon1:c.C15T:p.G5G,ENSG00000105193:ENST00000601655:exon1:c.C15T:p.G5G NA NA 19q13.2 Score=884;Name=V$AP4_01 Name=Pol2-4H8,MEF2A,GABP,NFKB,ZEB1_(SC-25388),TAF1,ATF3,ETS1,NELFe,HEY1,ELF1_(SC-631),HA-E2F1,Pol2(phosphoS2),USF-1,Pol2,CTCF,GTF2B,POU2F2,TAF7_(SQ-8),TCF12,YY1,BRCA1_(C-1863),CCNT2,TBP,TR4,ELK4,Pol2(b),JunD,GTF2F1_(RAP-74),STAT2,GR,SRF,Nrf1,SP1,TAL1_(SC-12984),c-Myc,Oct-2,YY1_(C-20),Max,PAX5-C20,Mxi1_(bHLH),NRSF,Sin3Ak-20 NA NA rs17626 0.48 0.48 0.467 0.511581 0.3827 0.5506 0.3804 0.7126 0.4254 0.38 0.5 0.35 0.68 0.3975 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.948679 1.948679 NA 0.340233 0.643052 NA 0.449 NA 6.5462336 1005 3 121415610 121415610 G A exonic GOLGB1 NA nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.C3520T:p.P1174S,GOLGB1:NM_001256486:exon13:c.C3760T:p.P1254S,GOLGB1:NM_001256487:exon13:c.C3643T:p.P1215S,GOLGB1:NM_004487:exon13:c.C3745T:p.P1249S exonic ENSG00000173230 NA nonsynonymous SNV ENSG00000173230:ENST00000494517:exon12:c.C3637T:p.P1213S,ENSG00000173230:ENST00000340645:exon13:c.C3745T:p.P1249S,ENSG00000173230:ENST00000393667:exon13:c.C3760T:p.P1254S NA NA 3q13.33 NA NA NA NA rs33988592 0.17 0.17 0.185 0.146965 0.2833 0.0923 0.1383 0.1286 0.0941 0.28 0.1 0.13 0.13 0.2172 0.29 0.71 T 0.006 B 0.005 B 0.331 N 1.000 P 1.845 L 2.56 T -0.951 T 0.000 T 0.183 -1.285 0.041 1.91 0.410 -0.819 2.429 -1.284513 NA 0.12 0.286977 0.151384 NA 0.312 NA 6.5458564 1005 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$GRE_C NA NA NA rs25645 0.32 0.32 0.3 0.313698 0.3668 0.4276 0.4135 0.0514 0.4254 0.36 0.41 0.41 0.07 0.3816 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.311292 NA NA 0.372442 0.098048 NA 0.348 NA 6.5458246 1005 20 60419750 60419750 C T exonic CDH4 NA synonymous SNV CDH4:NM_001252338:exon4:c.C492T:p.I164I,CDH4:NM_001252339:exon4:c.C381T:p.I127I,CDH4:NM_001794:exon5:c.C603T:p.I201I exonic ENSG00000179242 NA synonymous SNV ENSG00000179242:ENST00000543233:exon4:c.C381T:p.I127I,ENSG00000179242:ENST00000360469:exon5:c.C603T:p.I201I Score=432;Name=lod=76 NA 20q13.33 NA NA NA NA rs34912551 0.02 0.02 0.009 0.014976 0.0417 NA 0.013 0.0015 0.0225 0.04 NA 0.01 NA 0.0329 0.047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248787 NA NA 0.046744 0.012029 NA 0.014 NA 6.5453226 1006 10 25313818 25313818 C T exonic THNSL1 NA synonymous SNV THNSL1:NM_024838:exon3:c.C1666T:p.L556L exonic ENSG00000185875 NA synonymous SNV ENSG00000185875:ENST00000376356:exon3:c.C1666T:p.L556L,ENSG00000185875:ENST00000524413:exon3:c.C1666T:p.L556L Score=649;Name=lod=579 NA 10p12.1 Score=886;Name=V$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 1006 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 1006 1 46078884 46078884 C T exonic NASP NA synonymous SNV NASP:NM_001195193:exon5:c.C1278T:p.T426T,NASP:NM_152298:exon6:c.C453T:p.T151T,NASP:NM_002482:exon7:c.C1470T:p.T490T exonic ENSG00000132780 NA synonymous SNV ENSG00000132780:ENST00000528238:exon4:c.C261T:p.T87T,ENSG00000132780:ENST00000372052:exon5:c.C372T:p.T124T,ENSG00000132780:ENST00000525515:exon5:c.C405T:p.T135T,ENSG00000132780:ENST00000537798:exon5:c.C1278T:p.T426T,ENSG00000132780:ENST00000351223:exon6:c.C453T:p.T151T,ENSG00000132780:ENST00000350030:exon7:c.C1470T:p.T490T,ENSG00000132780:ENST00000437901:exon7:c.C453T:p.T151T,ENSG00000132780:ENST00000402363:exon8:c.C1476T:p.T492T Score=549;Name=lod=228 NA 1p34.1 NA NA NA NA rs2230659 0.68 0.68 0.667 0.678315 0.7177 0.6577 0.6499 0.7315 0.6074 0.7 0.64 0.67 0.71 0.6996 0.75 . . . . . . . . 0.000 P . . . . -0.998 T 0.000 T . 0.679 7.632 3.39 0.504 0.347 9.544 0.679121 NA NA 0.704884 0.747163 NA 0.572 NA 6.5444826 1006 19 51871195 51871195 G A exonic CLDND2 NA synonymous SNV CLDND2:NM_152353:exon2:c.C255T:p.C85C exonic ENSG00000160318,ENSG00000269403 NA synonymous SNV ENSG00000269403:ENST00000600067:exon1:c.C60T:p.C20C,ENSG00000160318:ENST00000291715:exon2:c.C255T:p.C85C,ENSG00000160318:ENST00000601435:exon3:c.C255T:p.C85C NA NA 19q13.41 NA Name=HA-E2F1,Pol2,Pol2(phosphoS2),E2F6,EBF1_(C-8),Pol2-4H8,HMGN3,TAF1,NFKB,HEY1,ELF1_(SC-631),c-Myc,Max,Mxi1_(bHLH),Sin3Ak-20,AP-2alpha,ELK4,TBP,AP-2gamma Name=40 NA rs3745403 0.23 0.23 0.198 0.193291 0.3897 0.1577 0.2795 0.0371 0.1779 0.36 0.16 0.31 0.05 0.3296 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.737318 1.737318 NA 0.403072 0.098864 NA 0.304 NA 6.5442946 1006 17 76178751 76178751 C T exonic TK1 NA synonymous SNV TK1:NM_003258:exon4:c.G222A:p.E74E exonic ENSG00000167900 NA synonymous SNV ENSG00000167900:ENST00000301634:exon4:c.G222A:p.E74E,ENSG00000167900:ENST00000405273:exon4:c.G222A:p.E74E,ENSG00000167900:ENST00000588734:exon4:c.G222A:p.E74E,ENSG00000167900:ENST00000590862:exon4:c.G222A:p.E74E,ENSG00000167900:ENST00000586613:exon5:c.G246A:p.E82E Score=480;Name=lod=119 NA 17q25.3 NA NA NA NA rs1143696 0.09 0.09 0.072 0.086262 0.0209 0.244 0.0648 0.0121 0.1063 0.02 0.25 0.04 0.03 0.0831 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.308755 1.308755 NA 0.018846 0.014325 NA 0.123 NA 6.5438206 1006 9 34310927 34310927 T C exonic KIF24 NA nonsynonymous SNV KIF24:NM_194313:exon2:c.A418G:p.M140V exonic ENSG00000186638 NA nonsynonymous SNV ENSG00000186638:ENST00000379174:exon1:c.A418G:p.M140V,ENSG00000186638:ENST00000402558:exon1:c.A418G:p.M140V,ENSG00000186638:ENST00000345050:exon2:c.A418G:p.M140V,ENSG00000186638:ENST00000379166:exon2:c.A418G:p.M140V NA NA 9p13.3 NA NA Name=4 NA rs10972048 0.42 0.42 0.357 0.410942 0.6223 0.3353 0.5 0.1059 0.6207 0.63 0.32 0.55 0.1 0.5442 0.63 0.3 T 0.002 B 0.002 B 0.076 N 1.000 P 1.43 L -0.28 T -0.935 T 0.000 T 0.058 -2.128 0.005 1.9 0.383 0.035 4.233 -2.128481 NA 0.09 0.623188 0.182226 NA 0.464 NA 6.5436454 1006 13 67800419 67800419 C G exonic PCDH9 NA synonymous SNV PCDH9:NM_020403:exon2:c.G2154C:p.V718V,PCDH9:NM_203487:exon2:c.G2154C:p.V718V exonic ENSG00000184226 NA synonymous SNV ENSG00000184226:ENST00000328454:exon1:c.G2154C:p.V718V,ENSG00000184226:ENST00000377865:exon1:c.G2154C:p.V718V,ENSG00000184226:ENST00000377861:exon2:c.G2154C:p.V718V,ENSG00000184226:ENST00000456367:exon2:c.G2154C:p.V718V,ENSG00000184226:ENST00000544246:exon2:c.G2154C:p.V718V Score=582;Name=lod=310 NA 13q21.32 NA NA NA NA rs41283952 0.03 0.03 0.019 0.0231629 0.0417 NA 0.0922 0.0023 0.0072 0.04 NA 0.1 0.0041 0.043 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 0.270775 NA NA 0.038721 0.008171 NA 0.014 NA 6.5432456 1006 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 1006 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 1006 15 78825562 78825562 C T exonic AGPHD1 NA synonymous SNV AGPHD1:NM_001013619:exon5:c.C672T:p.H224H exonic ENSG00000188266 NA synonymous SNV ENSG00000188266:ENST00000569878:exon4:c.C672T:p.H224H,ENSG00000188266:ENST00000388988:exon5:c.C672T:p.H224H Score=449;Name=lod=89 NA 15q25.1 Score=912;Name=V$PBX1_01 NA NA NA rs12906951 0.24 0.24 0.226 0.236222 0.3708 0.1528 0.2176 0.0998 0.3814 0.38 0.14 0.27 0.12 0.3398 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.478316 NA NA 0.414051 0.16977 ID=COSM1129104;OCCURENCE=1(prostate) 0.203 NA 6.5420156 1006 4 48172266 48172266 G A exonic TEC NA synonymous SNV TEC:NM_003215:exon5:c.C453T:p.S151S exonic ENSG00000135605 NA synonymous SNV ENSG00000135605:ENST00000381501:exon5:c.C453T:p.S151S Score=648;Name=lod=573 NA 4p12 Score=894;Name=V$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 1006 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 1006 16 72130815 72130815 C A exonic DHX38 NA synonymous SNV DHX38:NM_014003:exon3:c.C418A:p.R140R exonic ENSG00000140829 NA synonymous SNV ENSG00000140829:ENST00000268482:exon3:c.C418A:p.R140R Score=631;Name=lod=491 NA 16q22.2 Score=784;Name=V$E2F_01 NA NA NA rs1050362 0.43 0.43 0.484 0.478235 0.3549 0.3105 0.3156 0.7874 0.4755 0.34 0.33 0.35 0.75 0.3965 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 1.476815 1.476815 NA 0.373721 0.693358 NA 0.478 NA 6.5415456 1006 5 156376703 156376703 A G exonic TIMD4 NA nonsynonymous SNV TIMD4:NM_001146726:exon4:c.T719C:p.V240A,TIMD4:NM_138379:exon4:c.T719C:p.V240A exonic ENSG00000145850 NA nonsynonymous SNV ENSG00000145850:ENST00000274532:exon4:c.T719C:p.V240A,ENSG00000145850:ENST00000407087:exon4:c.T719C:p.V240A NA NA 5q33.3 NA Name=ZNF263 NA NA rs6873053 0.96 0.96 0.964 0.976438 0.9254 1 0.9726 0.9962 0.9806 0.92 1 0.98 0.99 0.9457 1 0.8 T 0.0 B 0.0 B 0.004 N 1.000 P -0.205 N 2.34 T -1.011 T 0.000 T 0.012 -1.591 0.014 -0.249 -0.321 -1.574 4.102 -1.590751 NA 0.53 0.92093 0.988425 NA 0.913 NA 6.5413034 1006 14 64656855 64656855 T C exonic SYNE2 NA synonymous SNV SYNE2:NM_015180:exon99:c.T17938C:p.L5980L,SYNE2:NM_182914:exon99:c.T17938C:p.L5980L exonic ENSG00000054654 NA synonymous SNV ENSG00000054654:ENST00000555612:exon19:c.T2824C:p.L942L,ENSG00000054654:ENST00000394768:exon47:c.T7093C:p.L2365L,ENSG00000054654:ENST00000555002:exon50:c.T7840C:p.L2614L,ENSG00000054654:ENST00000554584:exon97:c.T17527C:p.L5843L,ENSG00000054654:ENST00000344113:exon99:c.T17938C:p.L5980L,ENSG00000054654:ENST00000358025:exon99:c.T17938C:p.L5980L,ENSG00000054654:ENST00000357395:exon100:c.T7093C:p.L2365L Score=431;Name=lod=75 NA 14q23.2 NA NA NA NA rs2256191 0.48 0.48 0.467 0.487021 0.3698 0.3552 0.4006 0.8048 0.3753 0.37 0.39 0.4 0.82 0.3943 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 -0.019109 NA NA 0.361977 0.745347 NA 0.449 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118528.1;CLNDSDB=.;CLNDSDBID=. 6.5405896 1006 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 1006 19 422238 422238 G T exonic SHC2 NA synonymous SNV SHC2:NM_012435:exon11:c.C1528A:p.R510R exonic ENSG00000129946 NA synonymous SNV ENSG00000129946:ENST00000264554:exon11:c.C1528A:p.R510R Score=300;Name=lod=22 NA 19p13.3 NA NA NA NA rs2287960 0.11 0.11 0.077 0.134385 0.0258 0.3115 0.0879 0.0431 0.2198 0.03 0.28 0.09 0.05 0.0813 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784181 NA NA 0.020853 0.044688 NA 0.051 NA 6.5387136 1006 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 1006 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 1006 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 1006 10 112645088 112645088 G A exonic PDCD4 NA synonymous SNV PDCD4:NM_001199492:exon5:c.G477A:p.Q159Q,PDCD4:NM_014456:exon5:c.G519A:p.Q173Q,PDCD4:NM_145341:exon6:c.G486A:p.Q162Q exonic ENSG00000150593 NA synonymous SNV ENSG00000150593:ENST00000280154:exon5:c.G519A:p.Q173Q,ENSG00000150593:ENST00000444997:exon5:c.G477A:p.Q159Q,ENSG00000150593:ENST00000393104:exon6:c.G486A:p.Q162Q Score=688;Name=lod=832 NA 10q25.2 NA NA NA NA rs34104444 0.05 0.05 0.06 0.0445288 0.0477 0.001 0.0288 0.1089 0.0102 0.05 0.0017 0.03 0.12 0.0381 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 0.921925 NA NA 0.044535 0.110077 NA 0.029 NA 6.5363316 1006 X 140983064 140983064 G A exonic MAGEC3 NA nonsynonymous SNV MAGEC3:NM_138702:exon5:c.G919A:p.A307T exonic ENSG00000165509 NA nonsynonymous SNV ENSG00000165509:ENST00000448920:exon4:c.G175A:p.A59T,ENSG00000165509:ENST00000298296:exon5:c.G919A:p.A307T NA NA Xq27.2 NA NA NA NA rs176024 0.76 0.76 0.77424 NA NA NA NA NA NA 0.95 0.51 0.78 0.75 0.8454 0.95 0.13 T 0.001 B 0.0 B . . 1.000 P 0 N 4.02 T -1.058 T 0.000 T 0.063 -0.455 1.893 0.007 -0.568 -1.951 5.668 -0.455031 NA 0.01 0.951843 0.808083 NA 0.275 NA 6.5360904 1006 5 167689404 167689404 C T exonic TENM2 NA synonymous SNV TENM2:NM_001122679:exon29:c.C7887T:p.I2629I exonic ENSG00000145934 NA synonymous SNV ENSG00000145934:ENST00000520394:exon25:c.C7197T:p.I2399I,ENSG00000145934:ENST00000403607:exon27:c.C7386T:p.I2462I,ENSG00000145934:ENST00000519204:exon28:c.C7551T:p.I2517I,ENSG00000145934:ENST00000518659:exon29:c.C7914T:p.I2638I,ENSG00000145934:ENST00000545108:exon32:c.C7911T:p.I2637I Score=576;Name=lod=293 NA 5q34 NA NA NA NA rs17070041 0.03 0.03 0.039 0.043131 0.0368 0.0188 0.0216 0.0779 0.0429 0.03 0.02 0.01 0.07 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 0.11558 NA NA 0.032609 0.062939 NA 0.072 NA 6.5353576 1006 1 31898687 31898687 C T exonic SERINC2 NA synonymous SNV SERINC2:NM_001199037:exon5:c.C549T:p.I183I,SERINC2:NM_018565:exon5:c.C549T:p.I183I,SERINC2:NM_178865:exon5:c.C537T:p.I179I,SERINC2:NM_001199038:exon6:c.C564T:p.I188I,SERINC2:NM_001199039:exon6:c.C372T:p.I124I exonic ENSG00000168528 NA synonymous SNV ENSG00000168528:ENST00000373709:exon5:c.C537T:p.I179I,ENSG00000168528:ENST00000536384:exon5:c.C549T:p.I183I,ENSG00000168528:ENST00000536859:exon5:c.C549T:p.I183I,ENSG00000168528:ENST00000373710:exon6:c.C564T:p.I188I Score=435;Name=lod=78 NA 1p35.2 NA NA NA NA rs2275434 0.06 0.06 0.038 0.0607029 0.0338 0.0863 0.1628 NA 0.0716 0.03 0.08 0.14 NA 0.0607 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.019696 NA NA 0.03686 0.010213 NA 0.022 NA 6.5353066 1007 9 72741312 72741312 G A exonic MAMDC2 NA nonsynonymous SNV MAMDC2:NM_153267:exon6:c.G881A:p.S294N exonic ENSG00000165072 NA nonsynonymous SNV ENSG00000165072:ENST00000377182:exon6:c.G881A:p.S294N Score=419;Name=lod=67 NA 9q21.12 NA NA NA NA rs1998972 0.89 0.89 0.864 0.866014 0.9394 1 0.9452 0.5961 0.9611 0.94 1 0.95 0.63 0.922 1 0.63 T 0.011 B 0.029 B 0.000 N 0.999 P 1.155 L 4.39 T -0.943 T 0.000 T 0.014 -0.879 0.482 3.96 0.289 0.766 7.856 -0.879356 NA 0.83 0.937209 0.648207 NA 0.746 NA 6.5347244 1007 12 52985293 52985293 A G exonic KRT72 NA synonymous SNV KRT72:NM_001146225:exon5:c.T918C:p.I306I,KRT72:NM_001146226:exon5:c.T918C:p.I306I,KRT72:NM_080747:exon5:c.T918C:p.I306I exonic ENSG00000170486 NA synonymous SNV ENSG00000170486:ENST00000293745:exon5:c.T918C:p.I306I,ENSG00000170486:ENST00000354310:exon5:c.T918C:p.I306I,ENSG00000170486:ENST00000537672:exon5:c.T918C:p.I306I,ENSG00000170486:ENST00000398066:exon6:c.T354C:p.I118I Score=425;Name=lod=71 NA 12q13.13 NA Name=c-Myc NA NA rs12824366 0.36 0.36 0.344 0.372404 0.3638 0.5655 0.2406 0.1914 0.5204 0.38 0.54 0.23 0.21 0.387 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.925709 NA NA 0.381279 0.258284 NA 0.239 NA 6.5345876 1007 22 26247456 26247456 G A exonic MYO18B NA synonymous SNV MYO18B:NM_032608:exon21:c.G3795A:p.G1265G exonic ENSG00000133454 NA synonymous SNV ENSG00000133454:ENST00000335473:exon21:c.G3795A:p.G1265G,ENSG00000133454:ENST00000407587:exon21:c.G3798A:p.G1266G,ENSG00000133454:ENST00000536101:exon21:c.G3795A:p.G1265G Score=503;Name=lod=148 NA 22q12.1 Score=849;Name=V$GR_Q6 NA NA NA rs5996988 0.27 0.27 0.233 0.242013 0.3946 0.0833 0.3559 0.171 0.2638 0.41 0.09 0.4 0.17 0.3586 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.334266 1.334266 NA 0.379006 0.198387 ID=COSM444799;OCCURENCE=1(breast) 0.283 NA 6.5344606 1007 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 1007 6 33694659 33694659 G A exonic IP6K3 NA synonymous SNV IP6K3:NM_054111:exon4:c.C438T:p.S146S,IP6K3:NM_001142883:exon5:c.C438T:p.S146S exonic ENSG00000161896 NA synonymous SNV ENSG00000161896:ENST00000293756:exon4:c.C438T:p.S146S,ENSG00000161896:ENST00000451316:exon5:c.C438T:p.S146S Score=383;Name=lod=48 NA 6p21.31 NA NA NA NA rs34252064 0.08 0.08 0.104 0.0904553 0.0398 0.001 0.0317 0.2912 0.0051 0.03 0.0017 0.03 0.29 0.05 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.565147 NA NA 0.044651 0.229233 NA 0.072 NA 6.5322156 1007 17 39340910 39340910 T C exonic KRTAP4-1 NA nonsynonymous SNV KRTAP4-1:NM_033060:exon1:c.A197G:p.H66R exonic ENSG00000198443 NA nonsynonymous SNV ENSG00000198443:ENST00000398472:exon1:c.A197G:p.H66R Score=329;Name=lod=29 NA 17q21.2 NA NA NA NA rs2320231 0.94 0.94 0.917 0.952077 0.9324 0.9484 0.9741 0.9395 0.9775 0.93 0.95 0.97 0.92 0.9466 0.97 0.57 T 0.0 B 0.0 B . . 1.000 P . . 6.34 T -1.000 T 0.000 T 0.087 -0.81 0.65 2.33 0.313 0.025 3.577 -0.809802 NA 0.6 0.922779 0.943171 NA 0.572 NA 6.5315544 1007 1 155149718 155149718 G A exonic TRIM46 NA synonymous SNV TRIM46:NM_001256599:exon5:c.G792A:p.T264T,TRIM46:NM_001256601:exon5:c.G822A:p.T274T,TRIM46:NM_025058:exon5:c.G861A:p.T287T,TRIM46:NM_001256600:exon6:c.G822A:p.T274T exonic ENSG00000163462 NA synonymous SNV ENSG00000163462:ENST00000545012:exon4:c.G483A:p.T161T,ENSG00000163462:ENST00000334634:exon5:c.G861A:p.T287T,ENSG00000163462:ENST00000368382:exon5:c.G792A:p.T264T,ENSG00000163462:ENST00000368383:exon5:c.G861A:p.T287T,ENSG00000163462:ENST00000368385:exon5:c.G861A:p.T287T,ENSG00000163462:ENST00000392451:exon5:c.G861A:p.T287T,ENSG00000163462:ENST00000543729:exon5:c.G882A:p.T294T NA NA 1q22 Score=852;Name=V$GR_Q6 Name=ERalpha_a NA NA rs3814316 0.48 0.48 0.413 0.445887 0.3579 0.7629 0.5706 0.2194 0.4274 0.38 0.81 0.5 0.23 0.4216 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 0.819294 NA NA 0.355814 0.273491 ID=COSM1334562;OCCURENCE=1(large_intestine) 0.362 NA 6.5313526 1007 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=Rad21,CTCF,CTCF_(SC-5916),CTCF_(C-20) 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 1007 3 52469628 52469628 C T exonic SEMA3G NA synonymous SNV SEMA3G:NM_020163:exon16:c.G2340A:p.E780E exonic ENSG00000010319 NA synonymous SNV ENSG00000010319:ENST00000231721:exon16:c.G2340A:p.E780E Score=401;Name=lod=57 NA 3p21.1 NA NA NA NA rs61729091 0.03 0.03 0.017 0.013778 0.0497 NA 0.0144 0.003 0.0051 0.06 NA 0.02 0.01 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 0.423905 NA NA 0.047792 0.010459 NA 0.007 NA 6.5304746 1007 9 72912914 72912914 G A exonic SMC5 NA synonymous SNV SMC5:NM_015110:exon9:c.G1086A:p.K362K exonic ENSG00000198887 NA synonymous SNV ENSG00000198887:ENST00000361138:exon9:c.G1086A:p.K362K Score=401;Name=lod=57 NA 9q21.12 NA NA NA NA rs61752954 0.03 0.03 0.012 0.0183706 0.0467 NA 0.0403 0.0121 0.001 0.05 NA 0.05 0.0041 0.0327 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 1.034782 NA NA 0.057223 0.013164 NA 0.014 NA 6.5300436 1007 18 33779855 33779855 C T exonic MOCOS NA nonsynonymous SNV MOCOS:NM_017947:exon4:c.C509T:p.T170I exonic ENSG00000075643 NA nonsynonymous SNV ENSG00000075643:ENST00000261326:exon4:c.C509T:p.T170I NA NA 18q12.2 NA NA Name=4 NA rs623053 0.89 0.89 0.892 0.864417 0.9384 0.8631 0.8991 0.795 0.8589 0.94 0.88 0.9 0.82 0.9134 0.95 0.56 T 0.001 B 0.008 B 0.147 N 1.000 P -0.77 N 1.81 T -1.031 T 0.000 T 0.06 -2.273 0.004 0.728 0.176 1.737 7.801 -2.273419 NA 0.42 0.952326 0.834317 NA 0.906 NA 6.5292074 1007 1 169511755 169511755 T C exonic F5 NA nonsynonymous SNV F5:NM_000130:exon13:c.A2573G:p.K858R exonic ENSG00000198734 NA nonsynonymous SNV ENSG00000198734:ENST00000367796:exon13:c.A2588G:p.K863R,ENSG00000198734:ENST00000367797:exon13:c.A2573G:p.K858R NA NA 1q24.2 NA NA NA NA rs4524 0.24 0.24 0.209 0.266773 0.2535 0.248 0.3948 0.1679 0.3425 0.25 0.2 0.36 0.2 0.2768 0.36 0.54 T 0.0 B 0.0 B 0.635 N 1.000 P -0.805 N 2.17 T -0.910 T 0.005 T 0.022 -0.986 0.281 -1.7 -0.097 -0.454 5.162 -0.986145 NA 0.83 0.273837 0.184521 NA 0.341 NA 6.5291964 1007 16 57609000 57609000 C G exonic GPR114 NA synonymous SNV GPR114:NM_153837:exon11:c.C1482G:p.L494L exonic ENSG00000159618 NA synonymous SNV ENSG00000159618:ENST00000340339:exon11:c.C1482G:p.L494L,ENSG00000159618:ENST00000349457:exon11:c.C1482G:p.L494L Score=527;Name=lod=184 NA 16q21 NA NA NA NA rs16957788 0.12 0.12 0.116 0.11901 0.0308 0.369 0.0634 0.0287 0.1135 0.04 0.36 0.05 0.04 0.0706 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066648 NA NA 0.036977 0.048681 ID=COSM148085;OCCURENCE=1(stomach) 0.065 NA 6.5282896 1007 17 73089852 73089852 T C exonic SLC16A5 NA synonymous SNV SLC16A5:NM_001271765:exon3:c.T121C:p.L41L,SLC16A5:NM_004695:exon3:c.T121C:p.L41L exonic ENSG00000170190 NA synonymous SNV ENSG00000170190:ENST00000584118:exon1:c.T121C:p.L41L,ENSG00000170190:ENST00000450736:exon2:c.T121C:p.L41L,ENSG00000170190:ENST00000538213:exon2:c.T241C:p.L81L,ENSG00000170190:ENST00000584207:exon2:c.T211C:p.L71L,ENSG00000170190:ENST00000329783:exon3:c.T121C:p.L41L,ENSG00000170190:ENST00000578376:exon3:c.T121C:p.L41L,ENSG00000170190:ENST00000578847:exon3:c.T121C:p.L41L,ENSG00000170190:ENST00000580123:exon3:c.T121C:p.L41L Score=336;Name=lod=31 NA 17q25.1 NA Name=AP-2gamma,Pol2 Name=2 NA rs4788863 0.62 0.62 0.606 0.625399 0.7127 0.3442 0.6412 0.7186 0.6881 0.74 0.34 0.67 0.71 0.6986 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819031 NA NA 0.727326 0.736496 ID=COSM1479991,COSM437360;OCCURENCE=1(breast) 0.623 NA 6.5280406 1007 10 104160959 104160959 C T exonic NFKB2 NA synonymous SNV NFKB2:NM_001261403:exon18:c.C2094T:p.N698N,NFKB2:NM_001077494:exon19:c.C2094T:p.N698N,NFKB2:NM_002502:exon19:c.C2094T:p.N698N exonic ENSG00000077150 NA synonymous SNV ENSG00000077150:ENST00000189444:exon19:c.C2094T:p.N698N,ENSG00000077150:ENST00000369966:exon19:c.C2094T:p.N698N,ENSG00000077150:ENST00000428099:exon19:c.C2094T:p.N698N Score=512;Name=lod=160 NA 10q24.32 NA NA NA NA rs11574851 0.04 0.04 0.038 0.0317492 0.0467 0.0556 0.0245 0.0053 0.0327 0.05 0.06 0.03 0.01 0.0419 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 0.918842 NA NA 0.050155 0.010312 NA 0.022 NA 6.5279116 1007 12 95604547 95604547 C T exonic FGD6 NA synonymous SNV FGD6:NM_018351:exon2:c.G513A:p.G171G exonic ENSG00000180263 NA synonymous SNV ENSG00000180263:ENST00000343958:exon2:c.G513A:p.G171G,ENSG00000180263:ENST00000546711:exon2:c.G513A:p.G171G,ENSG00000180263:ENST00000549499:exon2:c.G513A:p.G171G NA NA 12q22 Score=796;Name=V$MEF2_01 NA NA NA rs4762288 0.04 0.04 0.043 0.0489217 0.0467 0.0109 0.036 0.0613 0.0828 0.04 0.01 0.04 0.07 0.0469 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 -2.135865 NA NA 0.045581 0.056741 NA 0.051 NA 6.5274856 1007 19 55800789 55800789 C G intronic BRSK1 NA NA NA intronic ENSG00000160469 NA NA NA Score=259;Name=lod=15 NA 19q13.42 NA Name=SIX5 Name=29 NA rs62126358 0.56 0.56 0.54 0.520966 0.4732 0.753 0.5461 0.4183 0.4519 0.48 0.8 0.48 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 1.710215 1.710215 NA NA NA NA 0.312 NA 6.5268 1007 6 119245024 119245024 C T exonic MCM9 NA synonymous SNV MCM9:NM_017696:exon2:c.G573A:p.S191S,MCM9:NM_153255:exon3:c.G573A:p.S191S exonic ENSG00000111877 NA synonymous SNV ENSG00000111877:ENST00000316068:exon3:c.G573A:p.S191S,ENSG00000111877:ENST00000316316:exon3:c.G573A:p.S191S Score=343;Name=lod=33 NA 6q22.31 NA NA NA NA rs12197931 0.1 0.1 0.107 0.0980431 0.0378 0.2014 0.049 0.0968 0.09 0.04 0.22 0.06 0.11 0.059 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.227653 NA NA 0.043721 0.079437 NA 0.08 NA 6.5261456 1007 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 1007 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 1007 8 144998514 144998514 C T exonic PLEC NA synonymous SNV PLEC:NM_201378:exon31:c.G5541A:p.A1847A,PLEC:NM_201379:exon31:c.G5517A:p.A1839A,PLEC:NM_201380:exon31:c.G5994A:p.A1998A,PLEC:NM_201381:exon31:c.G5487A:p.A1829A,PLEC:NM_201382:exon31:c.G5583A:p.A1861A,PLEC:NM_201383:exon31:c.G5595A:p.A1865A,PLEC:NM_201384:exon31:c.G5583A:p.A1861A,PLEC:NM_000445:exon32:c.G5664A:p.A1888A exonic ENSG00000178209 NA synonymous SNV ENSG00000178209:ENST00000322810:exon31:c.G5994A:p.A1998A,ENSG00000178209:ENST00000345136:exon31:c.G5583A:p.A1861A,ENSG00000178209:ENST00000354589:exon31:c.G5583A:p.A1861A,ENSG00000178209:ENST00000354958:exon31:c.G5517A:p.A1839A,ENSG00000178209:ENST00000356346:exon31:c.G5541A:p.A1847A,ENSG00000178209:ENST00000357649:exon31:c.G5595A:p.A1865A,ENSG00000178209:ENST00000398774:exon31:c.G5487A:p.A1829A,ENSG00000178209:ENST00000527096:exon31:c.G5652A:p.A1884A,ENSG00000178209:ENST00000436759:exon32:c.G5664A:p.A1888A NA NA 8q24.3 NA NA NA NA rs75586449 0.04 0.04 0.036 0.0696885 0.0358 0.0437 0.1412 0.0113 0.1595 0.03 0.04 0.12 0.002 0.0692 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 0.521573 NA NA 0.035714 0.010597 NA 0.007 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078879.3;CLNDSDB=.;CLNDSDBID=. 6.5259526 1007 7 135333172 135333172 C T exonic NUP205 NA synonymous SNV NUP205:NM_015135:exon43:c.C5907T:p.N1969N exonic ENSG00000155561 NA synonymous SNV ENSG00000155561:ENST00000285968:exon43:c.C5907T:p.N1969N NA NA 7q33 NA Name=CEBPB NA NA rs61740269 0.04 0.04 0.048 0.0541134 0.0497 0.0546 0.0504 0.0401 0.0798 0.04 0.05 0.05 0.03 0.0464 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 0.053082 NA NA 0.044767 0.039492 NA 0.072 NA 6.5257996 1007 5 95728974 95728974 G C exonic PCSK1 NA nonsynonymous SNV PCSK1:NM_001177876:exon8:c.C1063G:p.Q355E,PCSK1:NM_000439:exon14:c.C1993G:p.Q665E,PCSK1:NM_001177875:exon14:c.C1852G:p.Q618E exonic ENSG00000175426 NA nonsynonymous SNV ENSG00000175426:ENST00000311106:exon14:c.C1993G:p.Q665E,ENSG00000175426:ENST00000508626:exon14:c.C1852G:p.Q618E NA NA 5q15 NA NA NA NA rs6234 0.26 0.26 0.223 0.259185 0.2604 0.3591 0.2349 0.1808 0.2781 0.28 0.34 0.23 0.15 0.2688 0.34 1 T 0.0 B 0.0 B 0.463 N 1.000 P -0.69 N 0.05 T -1.002 T 0.000 T 0.027 -1.025 0.226 -0.272 -0.210 0.132 11.181 -1.024627 NA 1 0.278721 0.192692 NA 0.21 NA 6.5254124 1008 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$PAX5_02 NA NA NA rs2744380 0.71 0.71 0.703 0.709465 0.7127 0.8046 0.7478 0.6051 0.7219 0.7 0.8 0.74 0.59 0.7117 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493059 NA NA 0.717326 0.630958 NA 0.645 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038104.1;CLNDSDB=.;CLNDSDBID=. 6.5249406 1008 14 97299853 97299853 A G exonic VRK1 NA synonymous SNV VRK1:NM_003384:exon2:c.A45G:p.A15A exonic ENSG00000100749 NA synonymous SNV ENSG00000100749:ENST00000216639:exon2:c.A45G:p.A15A NA NA 14q32.2 NA Name=MafK_(ab50322) NA NA rs2145635 0.28 0.28 0.257 0.289537 0.3936 0.1161 0.3401 0.211 0.4315 0.4 0.12 0.35 0.22 0.3565 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674827 NA NA 0.391835 0.211984 NA 0.254 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118847.2;CLNDSDB=.;CLNDSDBID=. 6.5247316 1008 5 41186220 41186220 T G exonic C6 NA synonymous SNV C6:NM_000065:exon6:c.A678C:p.T226T,C6:NM_001115131:exon6:c.A678C:p.T226T exonic ENSG00000039537 NA synonymous SNV ENSG00000039537:ENST00000263413:exon6:c.A678C:p.T226T,ENSG00000039537:ENST00000337836:exon6:c.A678C:p.T226T Score=588;Name=lod=327 NA 5p13.1 NA NA NA NA rs61733159 0.04 0.04 0.041 0.0421326 0.0577 0.001 0.0303 0.0681 0.0419 0.05 0.0017 0.03 0.09 0.04 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.416649 1.416649 NA 0.044419 0.064685 NA 0.036 NA 6.5245476 1008 1 184675814 184675814 G A exonic EDEM3 NA synonymous SNV EDEM3:NM_025191:exon18:c.C2166T:p.N722N exonic ENSG00000116406 NA synonymous SNV ENSG00000116406:ENST00000439962:exon4:c.C510T:p.N170N,ENSG00000116406:ENST00000318130:exon18:c.C2166T:p.N722N,ENSG00000116406:ENST00000367512:exon18:c.C2037T:p.N679N Score=650;Name=lod=584 NA 1q25.3 Score=840;Name=V$AHRARNT_02 NA NA NA rs1062994 0.34 0.34 0.296 0.350639 0.3708 0.5784 0.3372 0.0257 0.544 0.38 0.52 0.36 0.04 0.3867 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.01891 NA NA 0.384767 0.088743 NA 0.348 NA 6.5243996 1008 17 1359363 1359363 T G exonic CRK NA synonymous SNV CRK:NM_005206:exon1:c.A49C:p.R17R,CRK:NM_016823:exon1:c.A49C:p.R17R exonic ENSG00000167193 NA synonymous SNV ENSG00000167193:ENST00000300574:exon1:c.A49C:p.R17R,ENSG00000167193:ENST00000398970:exon1:c.A49C:p.R17R,ENSG00000167193:ENST00000574295:exon1:c.A49C:p.R17R Score=775;Name=lod=1878 NA 17p13.3 NA Name=TAF1,NFKB,Pol2-4H8,Ini1,POU2F2,CTCF,Pol2,HA-E2F1,ELK4,ZBTB7A_(SC-34508),Oct-2 Name=25 NA rs2229075 0.7 0.7 0.661 0.727835 0.7018 0.5149 0.7104 0.9213 0.7249 0.69 0.51 0.73 0.93 0.7162 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 1.890462 1.890462 NA 0.724429 0.880414 NA 0.123 NA 6.5242376 1008 10 50681033 50681033 G A exonic ERCC6 NA synonymous SNV ERCC6:NM_000124:exon15:c.C2751T:p.G917G exonic ENSG00000225830 NA synonymous SNV ENSG00000225830:ENST00000542458:exon9:c.C861T:p.G287G,ENSG00000225830:ENST00000355832:exon15:c.C2751T:p.G917G NA NA 10q11.23 Score=939;Name=V$PAX4_03 NA NA NA rs2229760 0.29 0.29 0.288 0.254193 0.3926 0.3155 0.2968 0.0893 0.2413 0.39 0.3 0.29 0.13 0.337 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443743 NA NA 0.413023 0.149569 ID=COSM146934;OCCURENCE=1(stomach) 0.326 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116996.2;CLNDSDB=.;CLNDSDBID=. 6.5240436 1008 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 1008 2 71305456 71305456 C T exonic NAGK NA synonymous SNV NAGK:NM_017567:exon10:c.C991T:p.L331L exonic ENSG00000124357 NA synonymous SNV ENSG00000124357:ENST00000418807:exon9:c.C700T:p.L234L,ENSG00000124357:ENST00000244204:exon10:c.C853T:p.L285L,ENSG00000124357:ENST00000455662:exon10:c.C991T:p.L331L NA NA 2p13.3 NA NA NA NA rs6713 0.82 0.82 0.828 0.829872 0.7048 0.999 0.6772 0.8654 0.8446 0.7 1 0.7 0.89 0.7424 1 . . . . . . . . 1.000 P . . . . -1.023 T 0.000 T . -0.542 1.539 -2.48 -1.033 -0.421 0.659 -0.542225 NA NA 0.695814 0.815479 NA 0.768 NA 6.5236526 1008 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 1008 2 102968075 102968075 T C exonic IL1RL1 NA synonymous SNV IL1RL1:NM_016232:exon11:c.T1365C:p.N455N exonic ENSG00000115602 NA synonymous SNV ENSG00000115602:ENST00000233954:exon11:c.T1365C:p.N455N NA NA 2q12.1 NA Name=GATA-2 Name=9 NA rs4988957 0.4 0.4 0.422 0.385383 0.4046 0.125 0.2867 0.7542 0.2055 0.41 0.15 0.31 0.76 0.3499 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 -1.374019 NA NA 0.38907 0.704721 NA 0.413 NA 6.5230966 1008 5 41049410 41049410 C T exonic MROH2B NA synonymous SNV MROH2B:NM_173489:exon14:c.G1473A:p.S491S exonic ENSG00000171495 NA synonymous SNV ENSG00000171495:ENST00000506092:exon4:c.G138A:p.S46S,ENSG00000171495:ENST00000399564:exon14:c.G1473A:p.S491S Score=449;Name=lod=89 NA 5p13.1 NA NA NA NA rs116584060 0.05 0.05 0.047 0.0485224 0.0527 0.001 0.0331 0.087 0.0521 0.05 0.0017 0.03 0.1 0.0434 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 0.169794 NA NA 0.04798 0.079406 NA 0.036 NA 6.5225866 1008 12 53227803 53227803 A G exonic KRT79 NA nonsynonymous SNV KRT79:NM_175834:exon1:c.T242C:p.L81S exonic ENSG00000185640 NA nonsynonymous SNV ENSG00000185640:ENST00000330553:exon1:c.T242C:p.L81S NA NA 12q13.13 NA NA NA NA rs2638497 0.7 0.7 0.69 0.739617 0.6044 0.7966 0.6138 0.8381 0.7761 0.59 0.78 0.6 0.82 0.6311 0.82 0.42 T 0.0 B 0.0 B 0.967 N 1.000 P -0.805 N 2.21 T -1.024 T 0.000 T 0.058 -1.278 0.043 3.39 0.754 0.450 8.572 -1.278312 NA 0.41 0.575366 0.798274 NA 0.71 NA 6.5224674 1008 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 1008 15 90210263 90210263 A G exonic PLIN1 NA synonymous SNV PLIN1:NM_001145311:exon8:c.T1113C:p.P371P,PLIN1:NM_002666:exon8:c.T1113C:p.P371P exonic ENSG00000166819 NA synonymous SNV ENSG00000166819:ENST00000300055:exon8:c.T1113C:p.P371P,ENSG00000166819:ENST00000430628:exon8:c.T1113C:p.P371P NA NA 15q26.1 Score=775;Name=V$AHR_01 NA NA NA rs2304795 0.35 0.35 0.314 0.396366 0.3926 0.3135 0.3746 0.3707 0.5358 0.37 0.3 0.36 0.36 0.3797 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.141925 NA NA 0.372645 0.3975 NA 0.319 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117991.2;CLNDSDB=.;CLNDSDBID=. 6.5217216 1008 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 1008 3 130162395 130162395 A G exonic COL6A5 NA nonsynonymous SNV COL6A5:NM_153264:exon36:c.A6563G:p.Q2188R exonic ENSG00000172752 NA nonsynonymous SNV ENSG00000172752:ENST00000512482:exon1:c.A68G:p.Q23R,ENSG00000172752:ENST00000373157:exon2:c.A392G:p.Q131R,ENSG00000172752:ENST00000265379:exon36:c.A6563G:p.Q2188R,ENSG00000172752:ENST00000312481:exon36:c.A6563G:p.Q2188R,ENSG00000172752:ENST00000432398:exon36:c.A6563G:p.Q2188R NA NA 3q22.1 NA NA NA NA rs9883988 0.87 0.87 0.868 0.854233 0.9493 0.8452 0.8963 0.7443 0.8845 0.96 0.85 0.91 0.73 0.9144 0.96 0.55 T 0.0 B 0.001 B 0.490 N 1.000 P 0.69 N -0.72 T -0.965 T 0.000 T 0.179 0.01 4.067 -6.31 -1.317 -0.928 0.575 0.01018 NA NA 0.948074 0.783009 NA 0.848 NA 6.5215594 1008 19 17654182 17654182 G A exonic FAM129C NA synonymous SNV FAM129C:NM_001098524:exon12:c.G1479A:p.T493T,FAM129C:NM_173544:exon12:c.G1479A:p.T493T exonic ENSG00000167483 NA synonymous SNV ENSG00000167483:ENST00000449408:exon10:c.G657A:p.T219T,ENSG00000167483:ENST00000599124:exon11:c.G1386A:p.T462T,ENSG00000167483:ENST00000599164:exon11:c.G1386A:p.T462T,ENSG00000167483:ENST00000600519:exon11:c.G1386A:p.T462T,ENSG00000167483:ENST00000600871:exon11:c.G1317A:p.T439T,ENSG00000167483:ENST00000601861:exon11:c.G1386A:p.T462T,ENSG00000167483:ENST00000300971:exon12:c.G1479A:p.T493T,ENSG00000167483:ENST00000332386:exon12:c.G1479A:p.T493T,ENSG00000167483:ENST00000335393:exon12:c.G1479A:p.T493T,ENSG00000167483:ENST00000352727:exon12:c.G1479A:p.T493T,ENSG00000167483:ENST00000595684:exon12:c.G1479A:p.T493T NA NA 19p13.11 Score=893;Name=V$CREB_Q4 NA NA NA rs76814516 0.05 0.05 0.05 0.061901 0.0417 0.0317 0.0432 0.0893 0.09 0.04 0.03 0.05 0.07 0.0526 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 0.076769 NA NA 0.052093 0.071266 NA 0.029 NA 6.5202736 1008 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 1008 19 49228272 49228272 T C intronic RASIP1 NA NA NA intronic ENSG00000105538 NA NA NA NA Name=Retinal vascular caliber,Bipolar disorder 19q13.33 NA Name=SIX5,ERalpha_a,IRF1,PU.1,ETS1,ATF3,Znf143_(16618-1-AP) Name=144 NA rs2287921 0.26 0.26 0.24 0.216054 0.4811 0.0198 0.2968 0.1203 0.2178 0.47 0.03 0.34 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 0.456728 NA NA NA NA NA 0.326 NA 6.5189 1008 14 80669580 80669580 T C exonic DIO2 NA unknown UNKNOWN exonic ENSG00000211448 NA nonsynonymous SNV ENSG00000211448:ENST00000422005:exon3:c.A274G:p.T92A NA NA 14q31.1 NA Name=CTCF,CTCF_(C-20),YY1_(C-20),Max,Rad21,c-Myc,SMC3_(ab9263) NA NA rs225014 0.42 0.42 0.42 0.458067 0.3449 0.4405 0.5144 0.4629 0.546 0.34 0.44 0.46 0.5 0.436 0.5 0.8 T 0.0 B 0.0 B 0.982 N 1.000 P -0.55 N 1.54 T -0.927 T 0.000 T 0.062 -2.505 0.003 -1.4 -0.461 -0.435 2.741 -2.504805 NA NA 0.366889 0.43125 NA 0.464 NA 6.5188777 1008 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 1008 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 1008 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 1008 5 134670741 134670741 C T exonic H2AFY NA synonymous SNV H2AFY:NM_001040158:exon9:c.G1041A:p.T347T,H2AFY:NM_004893:exon9:c.G1041A:p.T347T,H2AFY:NM_138609:exon9:c.G1035A:p.T345T,H2AFY:NM_138610:exon9:c.G1044A:p.T348T exonic ENSG00000113648 NA synonymous SNV ENSG00000113648:ENST00000423969:exon5:c.G528A:p.T176T,ENSG00000113648:ENST00000304332:exon9:c.G1041A:p.T347T,ENSG00000113648:ENST00000312469:exon9:c.G1035A:p.T345T,ENSG00000113648:ENST00000510038:exon9:c.G1044A:p.T348T,ENSG00000113648:ENST00000511689:exon9:c.G1044A:p.T348T Score=517;Name=lod=168 NA 5q31.1 NA NA NA NA rs3733728 0.03 0.03 0.023 0.0363419 0.0457 0.0516 0.0187 0.0068 0.0634 0.04 0.04 0.02 0.01 0.0485 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 0.852761 NA NA 0.055 0.013618 NA 0.022 NA 6.5174666 1008 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 1008 6 33648144 33648144 C T exonic ITPR3 NA synonymous SNV ITPR3:NM_002224:exon32:c.C4263T:p.Y1421Y exonic ENSG00000096433 NA synonymous SNV ENSG00000096433:ENST00000605930:exon32:c.C4263T:p.Y1421Y,ENSG00000096433:ENST00000374316:exon33:c.C4263T:p.Y1421Y Score=663;Name=lod=662 NA 6p21.31 NA NA NA NA rs11967839 0.1 0.1 0.122 0.114217 0.0447 0.0585 0.0375 0.2958 0.0521 0.04 0.07 0.03 0.29 0.0603 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.765596 NA NA 0.045581 0.235361 NA 0.08 NA 6.5160856 1008 13 28608459 28608459 T C exonic FLT3 NA synonymous SNV FLT3:NM_004119:exon13:c.A1683G:p.L561L exonic ENSG00000122025 NA synonymous SNV ENSG00000122025:ENST00000241453:exon13:c.A1683G:p.L561L,ENSG00000122025:ENST00000380982:exon13:c.A1683G:p.L561L,ENSG00000122025:ENST00000380987:exon13:c.A1683G:p.L561L,ENSG00000122025:ENST00000537084:exon13:c.A1683G:p.L561L NA NA 13q12.2 NA NA Name=3 NA rs34374211 0.12 0.12 0.126 0.139776 0.0308 0.129 0.0403 0.236 0.2035 0.03 0.16 0.06 0.23 0.0823 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.535847 NA NA 0.037674 0.209714 ID=COSM19740;OCCURENCE=5(haematopoietic_and_lymphoid_tissue),2(large_intestine) 0.152 NA 6.5158926 1008 17 65104743 65104743 G A exonic HELZ NA nonsynonymous SNV HELZ:NM_014877:exon30:c.C4589T:p.A1530V exonic ENSG00000198265 NA nonsynonymous SNV ENSG00000198265:ENST00000358691:exon30:c.C4589T:p.A1530V,ENSG00000198265:ENST00000580168:exon30:c.C4592T:p.A1531V NA NA 17q24.2 NA NA NA NA rs11653020 0.96 0.96 0.957 0.976038 0.9304 1 0.9395 0.997 0.9959 0.93 1 0.94 1 0.9538 1 0.32 T 0.0 B 0.0 B 0.012 N 1.000 P 0.345 N -1.48 T -0.974 T 0.000 T 0.045 0.285 5.541 4.19 0.323 4.767 9.775 0.28463 NA 0.05 0.933528 0.985435 NA 0.862 NA 6.5156054 1009 21 46032094 46032094 A G exonic KRTAP10-8 NA nonsynonymous SNV KRTAP10-8:NM_198695:exon1:c.A77G:p.H26R exonic ENSG00000187766 NA nonsynonymous SNV ENSG00000187766:ENST00000334662:exon1:c.A77G:p.H26R NA NA 21q22.3 NA NA NA NA rs411254 0.92 0.92 0.911 0.901158 0.9503 0.8185 0.9524 0.938 0.8497 0.95 0.81 0.96 0.96 0.9238 0.96 0.26 T 0.0 B 0.0 B . . 1.000 P -0.345 N 4.08 T -1.042 T 0.000 T 0.029 -1.295 0.038 -4.73 -2.039 -0.595 11.434 -1.295384 NA 0.42 0.944651 0.935315 NA 0.841 NA 6.5145824 1009 7 21775387 21775387 T C exonic DNAH11 NA synonymous SNV DNAH11:NM_001277115:exon46:c.T7570C:p.L2524L exonic ENSG00000105877 NA synonymous SNV ENSG00000105877:ENST00000605912:exon1:c.T130C:p.L44L,ENSG00000105877:ENST00000409508:exon46:c.T7570C:p.L2524L,ENSG00000105877:ENST00000328843:exon47:c.T7591C:p.L2531L Score=243;Name=lod=13 NA 7p15.3 NA NA NA NA rs2072220 0.17 0.17 0.177 0.166534 0.0288 0.2083 0.2104 0.2814 0.0787 0.03 0.24 0.2 0.3 0.0907 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.305717 NA NA 0.032874 0.223377 NA 0.138 NA 6.5142926 1009 20 741847 741847 A G exonic SLC52A3 NA synonymous SNV SLC52A3:NM_033409:exon5:c.T1233C:p.S411S exonic ENSG00000101276 NA synonymous SNV ENSG00000101276:ENST00000217254:exon5:c.T1233C:p.S411S Score=524;Name=lod=180 NA 20p13 NA Name=E2F6,CTCF,E2F6_(H-50),USF-1,CTCF_(C-20),ZEB1_(SC-25388),Znf143_(16618-1-AP),Rad21,SMC3_(ab9263),CTCFL_(SC-98982) Name=48 NA rs910857 0.61 0.61 0.632 0.655351 0.7217 0.5238 0.647 0.6399 0.7495 0.71 0.47 0.6 0.62 0.7022 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 1.723035 1.723035 NA 0.729132 0.65 NA 0.696 NA 6.5136346 1009 2 209113192 209113192 G A exonic IDH1 NA synonymous SNV IDH1:NM_005896:exon4:c.C315T:p.G105G exonic ENSG00000138413 NA synonymous SNV ENSG00000138413:ENST00000415282:exon3:c.C315T:p.G105G,ENSG00000138413:ENST00000345146:exon4:c.C315T:p.G105G,ENSG00000138413:ENST00000415913:exon4:c.C315T:p.G105G,ENSG00000138413:ENST00000446179:exon4:c.C315T:p.G105G Score=687;Name=lod=828 NA 2q34 NA NA NA NA rs11554137 0.05 0.05 0.047 0.0569089 0.0477 0.0069 0.0447 0.1172 0.045 0.04 0.0035 0.04 0.11 0.0524 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 1.177117 NA NA 0.05314 0.105992 ID=COSM253316;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.058 NA 6.5134266 1009 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 1009 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 1009 9 117002517 117002517 C T exonic COL27A1 NA synonymous SNV COL27A1:NM_032888:exon20:c.C2745T:p.I915I exonic ENSG00000196739 NA synonymous SNV ENSG00000196739:ENST00000356083:exon20:c.C2745T:p.I915I Score=497;Name=lod=139 NA 9q32 Score=816;Name=V$GRE_C NA NA NA rs2014134 0.3 0.3 0.257 0.318091 0.3847 0.1895 0.4827 0.1505 0.4918 0.39 0.21 0.46 0.15 0.3916 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.558544 1.558544 NA 0.378721 0.194054 NA 0.304 NA 6.5116456 1009 12 54675113 54675113 G A ncRNA_intronic HNRNPA1P10 NA NA NA ncRNA_intronic ENSG00000258344 NA NA NA NA NA 12q13.13 NA Name=CEBPB,Sin3Ak-20,YY1_(C-20),Max,c-Myc,HEY1,Pol2-4H8,TAF7_(SQ-8),E2F6_(H-50),USF-1,Pol2 Name=100 NA rs2071391 0.24 0.24 0.241 0.227236 0.1551 0.3988 0.2363 0.1248 0.2566 0.15 0.47 0.22 0.14 NA 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23278 NA NA NA NA NA 0.167 NA 6.5115666 1009 10 29821089 29821089 C T exonic SVIL NA synonymous SNV SVIL:NM_021738:exon9:c.G1851A:p.V617V exonic ENSG00000197321 NA synonymous SNV ENSG00000197321:ENST00000355867:exon9:c.G1851A:p.V617V,ENSG00000197321:ENST00000375398:exon11:c.G1851A:p.V617V Score=346;Name=lod=34 NA 10p11.23 Score=854;Name=V$COUP_01 NA NA NA rs17756919 0.29 0.29 0.277 0.286741 0.3926 0.0764 0.3617 0.3313 0.2812 0.39 0.09 0.38 0.32 0.3524 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214082 NA NA 0.410581 0.344984 NA 0.312 NA 6.5110856 1009 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 1009 1 22179451 22179451 C T exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon51:c.G6552A:p.T2184T exonic ENSG00000142798 NA synonymous SNV ENSG00000142798:ENST00000430507:exon6:c.G390A:p.T130T,ENSG00000142798:ENST00000374695:exon51:c.G6552A:p.T2184T NA NA 1p36.12 Score=917;Name=V$ATF6_01 NA NA NA rs34443576 0.02 0.02 0.017 0.0345447 0.0487 NA 0.0245 0.0015 0.1074 0.05 NA 0.03 0.0041 0.0512 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 0.922843 NA NA 0.056771 0.009537 NA 0.022 NA 6.5099956 1009 1 22157545 22157545 G A exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon85:c.C11601T:p.Y3867Y exonic ENSG00000142798 NA synonymous SNV ENSG00000142798:ENST00000374695:exon85:c.C11601T:p.Y3867Y Score=475;Name=lod=114 NA 1p36.12 NA NA NA NA rs112494360 0.02 0.02 0.017 0.0289537 0.0398 NA 0.0231 0.0015 0.089 0.04 NA 0.03 0.0041 0.0693 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 0.187875 NA NA 0.047625 0.007731 ID=COSM1320466;OCCURENCE=1(ovary) 0.014 NA 6.5099416 1009 17 643741 643741 G A intronic FAM57A NA NA NA intronic ENSG00000167695 NA NA NA Score=340;Name=lod=32 NA 17p13.3 NA Name=NFKB,Pol2-4H8,Pol2,Pol2(phosphoS2),EBF,PU.1 Name=15 NA rs71357104 0.08 0.08 0.082 0.0746805 0.1918 0.002 0.0879 0.0121 0.1043 0.19 NA 0.09 0.01 0.127 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 1.371551 1.371551 NA 0.171395 0.035179 ID=COSM1180671;OCCURENCE=1(upper_aerodigestive_tract) 0.065 NA 6.509805 1009 2 160289863 160289863 T C exonic BAZ2B NA synonymous SNV BAZ2B:NM_013450:exon9:c.A1305G:p.K435K exonic ENSG00000123636 NA synonymous SNV ENSG00000123636:ENST00000343439:exon9:c.A1299G:p.K433K,ENSG00000123636:ENST00000355831:exon9:c.A1305G:p.K435K,ENSG00000123636:ENST00000392782:exon9:c.A1299G:p.K433K,ENSG00000123636:ENST00000392783:exon9:c.A1305G:p.K435K Score=664;Name=lod=667 NA 2q24.2 NA NA NA NA rs61733380 0.03 0.03 0.027 0.0369409 0.0527 0.002 0.0375 0.028 0.0685 0.04 NA 0.06 0.03 0.0522 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 0.597671 NA NA 0.052806 0.027853 NA 0.014 NA 6.5089606 1009 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 1009 1 230910339 230910339 G A exonic CAPN9 NA synonymous SNV CAPN9:NM_006615:exon8:c.G915A:p.K305K exonic ENSG00000135773 NA synonymous SNV ENSG00000135773:ENST00000366666:exon6:c.G726A:p.K242K,ENSG00000135773:ENST00000271971:exon8:c.G915A:p.K305K Score=361;Name=lod=39 NA 1q42.2 NA NA NA NA rs7517389 0.07 0.07 0.05 0.0944489 0.0457 0.0804 0.1081 0.1006 0.1411 0.05 0.07 0.08 0.08 0.0693 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 0.797846 NA NA 0.044535 0.094871 NA 0.058 NA 6.5071316 1009 1 27687466 27687466 G T exonic MAP3K6 NA nonsynonymous SNV MAP3K6:NM_004672:exon14:c.C1866A:p.N622K exonic ENSG00000142733 NA nonsynonymous SNV ENSG00000142733:ENST00000374040:exon13:c.C1842A:p.N614K,ENSG00000142733:ENST00000357582:exon14:c.C1866A:p.N622K,ENSG00000142733:ENST00000493901:exon15:c.C1866A:p.N622K NA NA 1p36.11 NA NA NA NA rs35659744 0.15 0.15 0.131 0.122005 0.2684 0.0823 0.1571 0.0182 0.1278 0.26 0.1 0.17 0.01 0.2622 0.3 0.15 T 0.003 B 0.004 B . . 1.000 P 1.355 L -0.16 T -0.981 T 0.000 T 0.05 1.596 11.29 -0.342 0.246 0.029 4.454 1.59566 1.59566 NA 0.295926 0.057203 ID=COSM1559293,COSM1559292;OCCURENCE=7(central_nervous_system) 0.159 NA 6.5068074 1009 1 109897100 109897100 T C exonic SORT1 NA synonymous SNV SORT1:NM_001205228:exon5:c.A189G:p.R63R,SORT1:NM_002959:exon5:c.A597G:p.R199R exonic ENSG00000134243 NA synonymous SNV ENSG00000134243:ENST00000256637:exon5:c.A597G:p.R199R,ENSG00000134243:ENST00000538502:exon5:c.A189G:p.R63R Score=628;Name=lod=475 NA 1p13.3 NA NA NA NA rs72646560 0.04 0.04 0.04 0.034345 0.0537 0.002 0.0144 0.0325 0.0644 0.06 0.0017 0.02 0.05 0.051 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 1.572795 1.572795 NA 0.055233 0.046981 NA 0.043 NA 6.5067336 1009 1 888659 888659 T C exonic NOC2L NA nonsynonymous SNV NOC2L:NM_015658:exon9:c.A898G:p.I300V exonic ENSG00000188976 NA nonsynonymous SNV ENSG00000188976:ENST00000327044:exon9:c.A898G:p.I300V NA NA 1p36.33 NA Name=ZNF263 NA NA rs3748597 0.93 0.93 0.917 0.922724 0.9533 0.9206 0.9193 0.907 0.9172 0.95 0.92 0.92 0.9 0.9355 0.95 1 T 0.0 B 0.0 B 0.070 N 1.000 P -2.24 N -0.39 T -0.957 T 0.000 T 0.091 -2.241 0.004 4.28 0.578 0.538 7.695 -2.240648 NA 0.58 0.938372 0.905767 NA 0.942 NA 6.5061614 1009 X 100808222 100808222 C T exonic ARMCX1 NA synonymous SNV ARMCX1:NM_016608:exon4:c.C309T:p.G103G exonic ENSG00000126947 NA synonymous SNV ENSG00000126947:ENST00000372829:exon4:c.C309T:p.G103G Score=412;Name=lod=63 NA Xq22.1 NA NA NA NA rs1044275 0.04 0.04 0.0318 NA NA NA NA NA NA 0.08 NA 0.05 0.02 0.0604 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 0.546217 NA NA 0.100327 0.016428 NA 0.08 NA 6.5059396 1009 2 202252478 202252478 A G exonic TRAK2 NA synonymous SNV TRAK2:NM_015049:exon13:c.T1644C:p.S548S exonic ENSG00000115993 NA synonymous SNV ENSG00000115993:ENST00000332624:exon13:c.T1644C:p.S548S Score=605;Name=lod=383 NA 2q33.1 NA NA NA NA rs35620793 0.03 0.03 0.026 0.0205671 0.0586 NA 0.0519 0.0038 0.0031 0.06 NA 0.06 0.0041 0.0399 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 1.41146 1.41146 NA 0.062326 0.009305 NA 0.08 NA 6.5058406 1009 1 65335095 65335095 T C exonic JAK1 NA synonymous SNV JAK1:NM_002227:exon6:c.A546G:p.G182G exonic ENSG00000162434 NA synonymous SNV ENSG00000162434:ENST00000342505:exon6:c.A546G:p.G182G NA NA 1p31.3 Score=841;Name=V$EVI1_05 NA NA NA rs11585932 0.04 0.04 0.014 0.0351438 0.0408 0.0069 0.1297 0.0015 0.0368 0.04 0.01 0.13 0.002 0.0597 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911471 NA NA 0.060374 0.011911 NA 0.072 NA 6.5057926 1009 9 77415284 77415284 A C exonic TRPM6 NA synonymous SNV TRPM6:NM_001177310:exon17:c.T2109G:p.L703L,TRPM6:NM_001177311:exon17:c.T2109G:p.L703L,TRPM6:NM_017662:exon17:c.T2124G:p.L708L exonic ENSG00000119121 NA synonymous SNV ENSG00000119121:ENST00000360774:exon17:c.T2124G:p.L708L,ENSG00000119121:ENST00000361255:exon17:c.T2109G:p.L703L,ENSG00000119121:ENST00000376864:exon17:c.T2124G:p.L708L,ENSG00000119121:ENST00000449912:exon17:c.T2109G:p.L703L,ENSG00000119121:ENST00000451710:exon17:c.T2124G:p.L708L Score=422;Name=lod=69 NA 9q21.13 NA Name=ERalpha_a NA NA rs7859201 0.45 0.45 0.469 0.460863 0.3728 0.3482 0.3415 0.7436 0.3701 0.37 0.38 0.38 0.72 0.4086 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.828526 NA NA 0.379535 0.66364 NA 0.478 NA 6.5057316 1009 2 173292709 173292709 A G intronic ITGA6 NA NA NA ncRNA_intronic ENSG00000226963 NA NA NA NA NA 2q31.1 Score=917;Name=V$HSF2_01 Name=E2F1,HA-E2F1 Name=3 NA rs6744873 0.48 0.48 0.361 0.500599 0.2306 0.8839 0.4568 0.5212 0.3865 0.2 0.88 0.41 0.47 0.356 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 0.026182 NA NA 0.241047 0.476602 NA 0.043 NA 6.5056863 1009 7 107743664 107743664 A G exonic LAMB4 NA synonymous SNV LAMB4:NM_007356:exon10:c.T1005C:p.N335N exonic ENSG00000091128 NA synonymous SNV ENSG00000091128:ENST00000205386:exon10:c.T1005C:p.N335N,ENSG00000091128:ENST00000388780:exon10:c.T1005C:p.N335N,ENSG00000091128:ENST00000388781:exon10:c.T1005C:p.N335N,ENSG00000091128:ENST00000414450:exon10:c.T1005C:p.N335N,ENSG00000091128:ENST00000418464:exon10:c.T1005C:p.N335N Score=439;Name=lod=81 NA 7q31.1 NA Name=Egr-1 NA NA rs402113 0.31 0.31 NA 0.302915 0.3777 0.2639 0.3674 0.2322 0.316 0.38 0.25 0.37 0.22 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 -0.828562 NA NA 0.390599 0.261146 NA 0.457 NA 6.5054676 1009 9 33447424 33447424 C G exonic AQP3 NA synonymous SNV AQP3:NM_004925:exon1:c.G105C:p.L35L exonic ENSG00000165272 NA synonymous SNV ENSG00000165272:ENST00000297991:exon1:c.G105C:p.L35L Score=536;Name=lod=201 NA 9p13.3 NA Name=NANOG_(SC-33759),c-Myc,Max,GATA-1,HMGN3,CTCF,Pol2 Name=53 NA rs591810 0.77 0.77 0.767 0.741214 0.7286 0.7629 0.83 0.7837 0.6115 0.74 0.76 0.77 0.81 0.7171 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 1.512893 1.512893 NA 0.715565 0.795071 ID=COSM1569287;OCCURENCE=1(large_intestine) 0.761 NA 6.5054016 1009 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 1009 10 46999190 46999190 A G exonic GPRIN2 NA nonsynonymous SNV GPRIN2:NM_014696:exon3:c.A310G:p.S104G exonic ENSG00000204175 NA nonsynonymous SNV ENSG00000204175:ENST00000374314:exon1:c.A310G:p.S104G,ENSG00000204175:ENST00000374317:exon3:c.A310G:p.S104G NA NA 10q11.22 Score=742;Name=V$PPARG_01 NA NA NA rs3127679 0.87 0.87 0.875 0.910942 0.9344 0.9603 0.9352 0.8192 0.9427 0.88 0.95 0.9 0.75 0.8939 0.95 1 T 0.0 B 0.001 B 0.006 N 1.000 P -2.015 N 3.96 T -1.043 T 0.000 T 0.084 -0.692 0.996 1.15 0.130 -0.083 3.656 -0.69243 NA 1 NA NA NA 0.391 NA 6.5050334 1010 11 129727255 129727255 G A exonic TMEM45B NA synonymous SNV TMEM45B:NM_138788:exon5:c.G618A:p.Q206Q exonic ENSG00000151715 NA synonymous SNV ENSG00000151715:ENST00000281441:exon5:c.G618A:p.Q206Q,ENSG00000151715:ENST00000524567:exon5:c.G618A:p.Q206Q Score=422;Name=lod=69 NA 11q24.3 NA NA NA NA rs78733006 0.03 0.03 0.03 0.0517173 0.0586 0.0079 0.0288 0.0015 0.1738 0.05 0.01 0.03 0.002 0.0539 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 -0.089986 NA NA 0.049453 0.008632 NA 0.022 NA 6.5047136 1010 4 42457545 42457545 G A exonic ATP8A1 NA synonymous SNV ATP8A1:NM_001105529:exon27:c.C2646T:p.N882N,ATP8A1:NM_006095:exon28:c.C2691T:p.N897N exonic ENSG00000124406 NA synonymous SNV ENSG00000124406:ENST00000264449:exon27:c.C2646T:p.N882N,ENSG00000124406:ENST00000381668:exon28:c.C2691T:p.N897N Score=597;Name=lod=355 NA 4p13 NA NA NA NA rs61735691 0.13 0.13 0.155 0.147764 0.0457 0.0397 0.098 0.3903 0.0716 0.05 0.02 0.07 0.42 0.0731 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580052 NA NA 0.043837 0.33409 NA 0.145 NA 6.5040296 1010 1 65321250 65321250 G A exonic JAK1 NA synonymous SNV JAK1:NM_002227:exon11:c.C1590T:p.I530I exonic ENSG00000162434 NA synonymous SNV ENSG00000162434:ENST00000342505:exon11:c.C1590T:p.I530I Score=612;Name=lod=410 NA 1p31.3 NA NA NA NA rs2230586 0.04 0.04 0.019 0.038738 0.0408 0.0069 0.1311 0.0015 0.0542 0.04 0.01 0.13 0.002 0.0616 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.167204 NA NA 0.060341 0.011815 NA 0.072 NA 6.5039256 1010 1 65311214 65311214 G C exonic JAK1 NA synonymous SNV JAK1:NM_002227:exon15:c.C2097G:p.A699A exonic ENSG00000162434 NA synonymous SNV ENSG00000162434:ENST00000342505:exon15:c.C2097G:p.A699A Score=536;Name=lod=202 NA 1p31.3 NA NA NA NA rs3737139 0.04 0.04 0.012 0.038738 0.0408 0.0069 0.1311 0.0015 0.0542 0.04 0.01 0.13 0.002 0.0615 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.849944 NA NA 0.060577 0.011128 NA 0.072 NA 6.5037896 1010 3 49723147 49723147 T C exonic MST1 NA synonymous SNV MST1:NM_020998:exon11:c.A1269G:p.E423E exonic ENSG00000173531 NA synonymous SNV ENSG00000173531:ENST00000449682:exon11:c.A1269G:p.E423E NA NA 3p21.31 NA NA Name=3 NA rs62262683 0.02 0.02 0.02 0.0175719 0.0626 0.001 0.0216 0.0015 0.0072 0.06 0.0017 0.02 0.0041 0.0416 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 -0.000741 NA NA 0.058735 0.013618 NA NA NA 6.5037316 1010 14 50100386 50100386 T C exonic DNAAF2 NA synonymous SNV DNAAF2:NM_001083908:exon1:c.A1482G:p.T494T,DNAAF2:NM_018139:exon1:c.A1482G:p.T494T exonic ENSG00000165506 NA synonymous SNV ENSG00000165506:ENST00000298292:exon1:c.A1482G:p.T494T,ENSG00000165506:ENST00000406043:exon1:c.A1482G:p.T494T NA NA 14q21.3 NA Name=FOXA1_(C-20),HMGN3,NANOG_(SC-33759) Name=60 NA rs2985687 0.52 0.52 0.489 0.488219 0.7575 0.1736 0.6412 0.4198 0.5194 0.75 0.19 0.65 0.44 0.6486 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 0.988189 NA NA 0.757093 0.489096 NA 0.384 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081940.1;CLNDSDB=.;CLNDSDBID=. 6.5034736 1010 22 37462926 37462926 G A exonic TMPRSS6 NA synonymous SNV TMPRSS6:NM_153609:exon17:c.C2217T:p.Y739Y exonic ENSG00000187045 NA synonymous SNV ENSG00000187045:ENST00000346753:exon17:c.C2217T:p.Y739Y,ENSG00000187045:ENST00000406725:exon17:c.C2190T:p.Y730Y,ENSG00000187045:ENST00000381792:exon18:c.C2256T:p.Y752Y,ENSG00000187045:ENST00000406856:exon18:c.C2256T:p.Y752Y Score=517;Name=lod=169 NA 22q12.3 Score=908;Name=V$USF_02 NA NA NA rs2235321 0.37 0.37 0.369 0.35603 0.4245 0.4087 0.2118 0.41 0.2607 0.42 0.42 0.22 0.34 0.3654 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.185791 NA NA 0.374767 0.419882 ID=COSM149288;OCCURENCE=1(stomach) 0.319 NA 6.5019996 1010 21 47836653 47836653 C T exonic PCNT NA nonsynonymous SNV PCNT:NM_006031:exon30:c.C6821T:p.P2274L exonic ENSG00000160299 NA nonsynonymous SNV ENSG00000160299:ENST00000359568:exon30:c.C6821T:p.P2274L NA NA 21q22.3 NA NA NA NA rs2070425 0.27 0.27 0.274 0.249601 0.2942 0.3671 0.1686 0.1611 0.2597 0.28 0.4 0.2 0.16 0.2811 0.4 0.55 T 0.012 B 0.005 B 0.812 N 1.000 P -0.41 N 4.91 T -1.027 T 0.000 T 0.023 -1.218 0.064 -0.651 -0.235 0.039 4.520 -1.217766 NA 0.19 0.256178 0.164235 NA 0.37 NA 6.5018554 1010 11 89060002 89060002 G A exonic NOX4 NA synonymous SNV NOX4:NM_001143836:exon17:c.C1539T:p.S513S,NOX4:NM_016931:exon18:c.C1659T:p.S553S,NOX4:NM_001143837:exon21:c.C1587T:p.S529S exonic ENSG00000086991 NA synonymous SNV ENSG00000086991:ENST00000531342:exon8:c.C618T:p.S206S,ENSG00000086991:ENST00000375979:exon9:c.C738T:p.S246S,ENSG00000086991:ENST00000525196:exon12:c.C951T:p.S317S,ENSG00000086991:ENST00000527626:exon14:c.C1098T:p.S366S,ENSG00000086991:ENST00000528341:exon17:c.C1584T:p.S528S,ENSG00000086991:ENST00000532825:exon17:c.C1467T:p.S489S,ENSG00000086991:ENST00000534731:exon17:c.C1539T:p.S513S,ENSG00000086991:ENST00000263317:exon18:c.C1659T:p.S553S,ENSG00000086991:ENST00000343727:exon18:c.C1587T:p.S529S,ENSG00000086991:ENST00000413594:exon18:c.C1722T:p.S574S,ENSG00000086991:ENST00000424319:exon18:c.C1587T:p.S529S,ENSG00000086991:ENST00000535633:exon18:c.C1587T:p.S529S,ENSG00000086991:ENST00000527956:exon19:c.C1587T:p.S529S,ENSG00000086991:ENST00000542487:exon21:c.C1587T:p.S529S Score=568;Name=lod=271 NA 11q14.3 NA NA NA NA rs28517716 0.1 0.1 0.101 0.131789 0.0507 0.1429 0.0418 0.2405 0.1207 0.04 0.13 0.04 0.18 0.0741 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.165834 NA NA 0.040358 0.179691 NA 0.094 NA 6.5015086 1010 18 67718688 67718688 A G exonic RTTN NA nonsynonymous SNV RTTN:NM_173630:exon39:c.T5282C:p.F1761S exonic ENSG00000176225 NA nonsynonymous SNV ENSG00000176225:ENST00000255674:exon39:c.T5282C:p.F1761S NA NA 18q22.2 NA NA NA NA rs4891392 0.83 0.83 0.788 0.790735 0.9513 1 0.9121 0.3147 0.9673 0.96 1 0.92 0.37 0.9184 1 0.55 T 0.0 B 0.001 B 0.813 N 1.000 P -0.55 N 0.93 T -1.032 T 0.000 T 0.005 0.625 7.364 -1.23 -0.576 -1.402 4.766 0.625456 NA 1 0.962403 0.45829 NA 0.674 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118217.2;CLNDSDB=.;CLNDSDBID=. 6.5012304 1010 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 1010 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 1010 6 143090803 143090803 C T exonic HIVEP2 NA synonymous SNV HIVEP2:NM_006734:exon5:c.G5073A:p.L1691L exonic ENSG00000010818 NA synonymous SNV ENSG00000010818:ENST00000012134:exon3:c.G5073A:p.L1691L,ENSG00000010818:ENST00000367604:exon4:c.G5073A:p.L1691L,ENSG00000010818:ENST00000367603:exon5:c.G5073A:p.L1691L Score=594;Name=lod=347 NA 6q24.2 NA NA NA NA rs34296594 0.03 0.03 0.024 0.0283546 0.0606 NA 0.0418 0.0015 0.0511 0.06 NA 0.05 NA 0.0472 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 -0.272016 NA NA 0.058247 0.008154 NA 0.043 NA 6.5006196 1010 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 1010 17 56598439 56598439 T C exonic SEPT4 NA synonymous SNV SEPT4:NM_001198713:exon10:c.A1173G:p.T391T,SEPT4:NM_001256822:exon10:c.A756G:p.T252T,SEPT4:NM_004574:exon10:c.A1197G:p.T399T,SEPT4:NM_080416:exon10:c.A1140G:p.T380T,SEPT4:NM_001256782:exon11:c.A1242G:p.T414T exonic ENSG00000108387 NA synonymous SNV ENSG00000108387:ENST00000579371:exon9:c.A900G:p.T300T,ENSG00000108387:ENST00000580844:exon9:c.A900G:p.T300T,ENSG00000108387:ENST00000317256:exon10:c.A1140G:p.T380T,ENSG00000108387:ENST00000317268:exon10:c.A1197G:p.T399T,ENSG00000108387:ENST00000393086:exon10:c.A1140G:p.T380T,ENSG00000108387:ENST00000412945:exon10:c.A1173G:p.T391T,ENSG00000108387:ENST00000583114:exon10:c.A756G:p.T252T,ENSG00000108387:ENST00000457347:exon11:c.A1242G:p.T414T NA NA 17q22 NA Name=Rad21,c-Myc,CTCF_(C-20),CTCF_(SC-5916),CTCF Name=48 NA rs1057068 0.41 0.41 0.386 0.400759 0.3708 0.5188 0.5778 0.2693 0.362 0.37 0.52 0.55 0.24 0.4131 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603948 NA NA 0.382791 0.300272 NA 0.37 NA 6.4999756 1010 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 1010 11 74563077 74563077 G A exonic XRRA1 NA synonymous SNV XRRA1:NM_001270381:exon10:c.C372T:p.C124C,XRRA1:NM_182969:exon13:c.C1197T:p.C399C exonic ENSG00000166435 NA stopgain ENSG00000166435:ENST00000531849:exon9:c.C331T:p.R111X Score=433;Name=lod=77 NA 11q13.4 NA NA NA NA rs2304683 0.33 0.33 0.292 0.267572 0.2833 0.506 0.4827 0.093 0.089 0.29 0.52 0.44 0.1 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 3.662558 3.662558 NA 0.261529 0.124815 NA 0.196 NA 6.4998043 1010 12 21176135 21176135 T C exonic SLCO1B7 NA nonsynonymous SNV SLCO1B7:NM_001009562:exon5:c.T500C:p.V167A exonic ENSG00000205754,ENSG00000257046 NA nonsynonymous SNV ENSG00000205754:ENST00000421593:exon5:c.T500C:p.V167A,ENSG00000257046:ENST00000381541:exon6:c.T641C:p.V214A,ENSG00000205754:ENST00000554957:exon6:c.T641C:p.V214A NA NA 12p12.2 NA NA NA NA rs1546308 0.96 0.96 0.977 0.959665 0.9443 0.998 0.9078 0.9599 0.9724 0.95 1 0.92 0.97 0.9496 1 0.39 T 0.0 B 0.001 B 0.007 N 1.000 P -1.63 N -1.26 T -0.970 T 0.000 T 0.028 -0.326 2.451 2.54 0.392 2.365 7.439 -0.326432 NA 0.89 0.939851 0.964986 NA 0.978 NA 6.4995824 1010 2 202215492 202215492 C G exonic ALS2CR12 NA nonsynonymous SNV ALS2CR12:NM_001127391:exon3:c.G127C:p.V43L,ALS2CR12:NM_139163:exon3:c.G127C:p.V43L exonic ENSG00000155749 NA nonsynonymous SNV ENSG00000155749:ENST00000286190:exon2:c.G127C:p.V43L,ENSG00000155749:ENST00000392257:exon3:c.G127C:p.V43L,ENSG00000155749:ENST00000405148:exon3:c.G127C:p.V43L,ENSG00000155749:ENST00000418364:exon3:c.G127C:p.V43L,ENSG00000155749:ENST00000439709:exon3:c.G127C:p.V43L NA NA 2q33.1 NA NA NA NA rs13014235 0.65 0.65 0.667 0.709065 0.6054 0.7292 0.4971 0.7874 0.8395 0.6 0.71 0.49 0.77 0.6339 0.77 0.6 T 0.0 B 0.0 B 0.231 N 1.000 P -0.895 N 1.1 T -0.984 T 0.000 T 0.04 -0.57 1.433 -0.808 -0.394 -1.077 6.575 -0.569691 NA 1 0.594884 0.746028 NA 0.674 NA 6.4991494 1010 19 14518937 14518937 C T UTR3 CD97 NM_001784:c.*4C>T,NM_078481:c.*4C>T,NM_001025160:c.*4C>T NA NA ncRNA_UTR3 ENSG00000123146 NA NA NA NA NA 19p13.12 NA Name=Pol2,Pol2-4H8,HMGN3,BCLAF1_(M33-P5B11),AP-2alpha,Pol2(b),CCNT2,AP-2gamma,ZNF263 Name=44 NA rs372680454 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 0.167861 NA NA 0.000698 0 NA NA NA 6.499102 1010 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 1010 19 53959715 53959715 C T exonic ZNF761 NA nonsynonymous SNV ZNF761:NM_001008401:exon7:c.C1954T:p.H652Y ncRNA_exonic ENSG00000160336 NA NA NA Score=355;Name=lod=37 NA 19q13.42 NA NA NA NA rs141685694 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 1.639514 1.639514 0 0.000814 0.000227 NA NA NA 6.497586 1010 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$AREB6_02 NA NA Score=80;Name=12204_0_-_80 rs1135172 0.66 0.66 0.619 0.639577 0.7237 0.878 0.7622 0.2239 0.7822 0.73 0.88 0.75 0.23 0.717 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.720907 NA NA 0.728488 0.305946 NA 0.652 NA 6.4974786 1010 16 84050209 84050209 G A exonic SLC38A8 NA synonymous SNV SLC38A8:NM_001080442:exon8:c.C1077T:p.L359L exonic ENSG00000166558 NA synonymous SNV ENSG00000166558:ENST00000299709:exon8:c.C1077T:p.L359L NA NA 16q23.3 Score=862;Name=V$CREB_02 NA NA NA rs77876966 0.04 0.04 0.046 0.0273562 0.0716 NA 0.0317 0.0265 0.0082 0.07 NA 0.04 0.04 0.0436 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 -1.206771 NA NA 0.054302 0.029773 NA 0.043 NA 6.4971646 1010 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 1010 22 31302125 31302125 C G intronic OSBP2 NA NA NA exonic ENSG00000184792 NA nonsynonymous SNV ENSG00000184792:ENST00000382310:exon12:c.C2530G:p.R844G NA NA 22q12.2 NA NA NA NA rs3804084 0.45 0.45 0.421 0.456669 0.3101 0.6855 0.3429 0.5537 0.3211 0.3 0.62 0.38 0.55 0.3605 0.62 . . 0.0 B 0.0 B . . 1.000 P . . 1.45 T -0.939 T 0.000 T 0.073 -1.223 0.061 -2.32 -0.447 -0.904 4.853 -1.223414 NA 0 NA NA NA 0.413 NA 6.4960667 1010 10 126089434 126089434 G A exonic OAT NA synonymous SNV OAT:NM_001171814:exon8:c.C720T:p.N240N,OAT:NM_000274:exon9:c.C1134T:p.N378N exonic ENSG00000065154 NA synonymous SNV ENSG00000065154:ENST00000539214:exon8:c.C720T:p.N240N,ENSG00000065154:ENST00000368845:exon9:c.C1134T:p.N378N Score=497;Name=lod=139 NA 10q26.13 NA NA NA NA rs11461 0.41 0.41 0.364 0.409944 0.3648 0.6369 0.5259 0.1445 0.499 0.35 0.61 0.53 0.17 0.418 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.158855 NA NA 0.387855 0.173627 NA 0.225 CLINSIG=non-pathogenic;CLNDBN=OAT_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000000184.1;CLNDSDB=.;CLNDSDBID=. 6.4960116 1011 13 39454771 39454771 G C exonic FREM2 NA synonymous SNV FREM2:NM_207361:exon24:c.G9357C:p.T3119T exonic ENSG00000150893 NA synonymous SNV ENSG00000150893:ENST00000280481:exon24:c.G9357C:p.T3119T NA NA 13q13.3 NA Name=EBF NA NA rs41306664 0.03 0.03 0.025 0.0177716 0.0586 NA 0.0173 0.0015 0.0164 0.07 NA 0.03 NA 0.0438 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 -0.022751 NA NA 0.069419 0.010667 NA 0.029 NA 6.4948476 1011 17 73487533 73487533 C T exonic KIAA0195 NA synonymous SNV KIAA0195:NM_014738:exon13:c.C1383T:p.P461P exonic ENSG00000177728 NA synonymous SNV ENSG00000177728:ENST00000580918:exon2:c.C255T:p.P85P,ENSG00000177728:ENST00000579208:exon5:c.C336T:p.P112P,ENSG00000177728:ENST00000375248:exon12:c.C1413T:p.P471P,ENSG00000177728:ENST00000314256:exon13:c.C1383T:p.P461P NA NA 17q25.1 Score=933;Name=V$IK2_01 NA NA NA rs76073955 0.04 0.04 0.039 0.0453275 0.0765 0.001 0.0432 0.0749 0.0204 0.07 0.0017 0.04 0.05 0.0398 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 0.821461 NA NA 0.05593 0.07399 NA 0.022 NA 6.4944366 1011 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 1011 1 110882444 110882444 A G exonic RBM15 NA synonymous SNV RBM15:NM_001201545:exon1:c.A417G:p.E139E,RBM15:NM_022768:exon1:c.A417G:p.E139E exonic ENSG00000162775 NA synonymous SNV ENSG00000162775:ENST00000369784:exon1:c.A417G:p.E139E,ENSG00000162775:ENST00000487146:exon1:c.A417G:p.E139E,ENSG00000162775:ENST00000602849:exon1:c.A417G:p.E139E Score=584;Name=lod=316 NA 1p13.3 NA Name=Sin3Ak-20,Ini1,USF1_(SC-8983),Pol2,Egr-1 Name=72 NA rs814771 0.8 0.8 0.799 0.822883 0.6879 0.7738 0.8545 0.9516 0.816 0.7 0.78 0.82 0.95 0.7613 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 0.994084 NA NA 0.723176 0.928071 NA 0.739 NA 6.4942906 1011 5 21842436 21842436 A G exonic CDH12 NA synonymous SNV CDH12:NM_004061:exon8:c.T648C:p.G216G exonic ENSG00000154162 NA synonymous SNV ENSG00000154162:ENST00000522262:exon5:c.T528C:p.G176G,ENSG00000154162:ENST00000504376:exon7:c.T648C:p.G216G,ENSG00000154162:ENST00000382254:exon8:c.T648C:p.G216G Score=378;Name=lod=46 NA 5p14.3 NA NA NA NA rs17839323 0.05 0.05 0.029 0.0609026 0.0487 0.0179 0.1095 0.0431 0.1074 0.05 0.03 0.09 0.04 0.0729 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 1.506587 1.506587 NA 0.051744 0.043123 NA 0.036 NA 6.4933226 1011 17 17700792 17700792 C T exonic RAI1 NA synonymous SNV RAI1:NM_030665:exon3:c.C4530T:p.P1510P exonic ENSG00000108557 NA synonymous SNV ENSG00000108557:ENST00000261641:exon1:c.C4530T:p.P1510P,ENSG00000108557:ENST00000353383:exon3:c.C4530T:p.P1510P NA NA 17p11.2 NA NA NA NA rs35686634 0.08 0.08 0.086 0.0730831 0.0567 0.0069 0.0331 0.1906 0.0276 0.06 NA 0.04 0.23 0.0579 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.089321 NA NA 0.059302 0.173479 NA 0.08 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082270.3;CLNDSDB=.;CLNDSDBID=. 6.4927646 1011 6 116574455 116574455 G A exonic TSPYL4 NA synonymous SNV TSPYL4:NM_021648:exon1:c.C717T:p.H239H exonic ENSG00000187189 NA synonymous SNV ENSG00000187189:ENST00000420283:exon1:c.C717T:p.H239H Score=541;Name=lod=210 NA 6q22.1 NA Name=E2F6 NA NA rs2232472 0.38 0.38 0.348 0.388379 0.3648 0.6359 0.3804 0.0923 0.5634 0.37 0.63 0.36 0.11 0.4545 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.072886 NA NA 0.354615 0.113307 NA 0.341 NA 6.4927516 1011 10 99126513 99126513 C T exonic RRP12 NA synonymous SNV RRP12:NM_001145114:exon25:c.G3018A:p.Q1006Q,RRP12:NM_015179:exon27:c.G3201A:p.Q1067Q exonic ENSG00000052749 NA synonymous SNV ENSG00000052749:ENST00000536831:exon21:c.G2355A:p.Q785Q,ENSG00000052749:ENST00000315563:exon24:c.G2901A:p.Q967Q,ENSG00000052749:ENST00000414986:exon25:c.G3018A:p.Q1006Q,ENSG00000052749:ENST00000370992:exon27:c.G3201A:p.Q1067Q Score=336;Name=lod=31 NA 10q24.1 NA NA NA NA rs45527941 0.03 0.03 0.023 0.0255591 0.0716 NA 0.0548 0.0038 0.0133 0.07 NA 0.04 0.01 0.0441 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 0.593145 NA NA 0.058256 0.013164 NA 0.007 NA 6.4927106 1011 10 75871735 75871735 C G exonic VCL NA synonymous SNV VCL:NM_014000:exon19:c.C2814G:p.G938G exonic ENSG00000035403 NA synonymous SNV ENSG00000035403:ENST00000436396:exon12:c.C1830G:p.G610G,ENSG00000035403:ENST00000211998:exon19:c.C2814G:p.G938G Score=742;Name=lod=1385 NA 10q22.2 Score=989;Name=V$STAT3_02 NA NA NA rs2131956 0.65 0.65 0.66 0.623003 0.7485 0.3819 0.6744 0.7753 0.5 0.75 0.39 0.66 0.76 0.6734 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 0.869017 NA NA 0.752093 0.782569 ID=COSM1349106;OCCURENCE=1(large_intestine) 0.783 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000038817.1|RCV000126283.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.4926736 1011 10 60577393 60577393 T C exonic BICC1 NA synonymous SNV BICC1:NM_001080512:exon19:c.T2605C:p.L869L exonic ENSG00000122870 NA synonymous SNV ENSG00000122870:ENST00000373886:exon19:c.T2605C:p.L869L Score=668;Name=lod=692 NA 10q21.1 NA Name=RXRA,FOXA2_(SC-6554),p300,HDAC2_(SC-6296),FOXA1_(SC-101058),FOXA1_(C-20) Name=44 NA rs4344442 0.75 0.75 0.731 0.73742 0.7018 0.755 0.7781 0.7678 0.6861 0.72 0.78 0.76 0.76 0.7475 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 0.84168 NA NA 0.724767 0.763731 NA 0.761 NA 6.4925996 1011 9 130495633 130495633 C G exonic TOR2A NA nonsynonymous SNV TOR2A:NM_130459:exon3:c.G624C:p.W208C exonic ENSG00000160404 NA nonsynonymous SNV ENSG00000160404:ENST00000373281:exon3:c.G624C:p.W208C NA NA 9q34.11 NA NA NA NA rs564754 0.6 0.6 0.579 0.623802 0.6332 0.371 0.6081 0.7844 0.6687 0.65 0.38 0.6 0.78 0.6164 0.78 0.18 T 0.0 B 0.001 B . . 1.000 P . . -0.37 T -0.979 T 0.000 T 0.036 1.433 10.73 -1.4 -0.643 -1.060 5.888 1.432873 1.432873 0.08 0.591512 0.741489 NA 0.696 NA 6.4922214 1011 3 142222284 142222284 A G exonic ATR NA synonymous SNV ATR:NM_001184:exon30:c.T5208C:p.Y1736Y exonic ENSG00000175054 NA synonymous SNV ENSG00000175054:ENST00000383101:exon29:c.T5016C:p.Y1672Y,ENSG00000175054:ENST00000350721:exon30:c.T5208C:p.Y1736Y Score=651;Name=lod=590 NA 3q23 Score=803;Name=V$HNF1_C NA NA NA rs2227931 0.35 0.35 0.327 0.3125 0.3917 0.3542 0.353 0.2073 0.3016 0.39 0.38 0.38 0.23 0.364 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.772296 NA NA 0.418859 0.21448 NA 0.275 NA 6.4921076 1011 20 50140627 50140627 G C exonic NFATC2 NA synonymous SNV NFATC2:NM_001136021:exon2:c.C93G:p.V31V,NFATC2:NM_001258292:exon2:c.C93G:p.V31V,NFATC2:NM_012340:exon2:c.C153G:p.V51V,NFATC2:NM_173091:exon2:c.C153G:p.V51V exonic ENSG00000101096 NA synonymous SNV ENSG00000101096:ENST00000371564:exon2:c.C153G:p.V51V,ENSG00000101096:ENST00000396009:exon2:c.C153G:p.V51V,ENSG00000101096:ENST00000414705:exon2:c.C93G:p.V31V Score=567;Name=lod=268 NA 20q13.2 NA NA NA NA rs3746420 0.06 0.06 0.047 0.0597045 0.0606 0.0734 0.0447 0.0507 0.0675 0.06 0.06 0.05 0.04 0.0569 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.496057 NA NA 0.057339 0.040191 NA 0.036 NA 6.4918276 1011 1 7890117 7890117 T C exonic PER3 NA nonsynonymous SNV PER3:NM_016831:exon18:c.T3083C:p.M1028T exonic ENSG00000049246 NA nonsynonymous SNV ENSG00000049246:ENST00000361923:exon18:c.T3083C:p.M1028T,ENSG00000049246:ENST00000377532:exon18:c.T3110C:p.M1037T NA NA 1p36.23 NA NA NA NA rs2640909 0.19 0.19 0.167 0.185304 0.2932 0.0506 0.2853 0.0968 0.2618 0.29 0.07 0.25 0.12 0.2531 0.3 0.6 T 0.017 B 0.013 B 0.039 N 1.000 P 0.145 N 2.58 T -0.939 T 0.000 T 0.059 -1.871 0.008 -1.54 -0.216 0.000 3.401 -1.871084 NA 0.09 0.295233 0.127099 NA 0.101 NA 6.4918004 1011 5 32403346 32403346 C T exonic ZFR NA nonsynonymous SNV ZFR:NM_016107:exon8:c.G1381A:p.V461I exonic ENSG00000056097 NA nonsynonymous SNV ENSG00000056097:ENST00000265069:exon8:c.G1381A:p.V461I Score=553;Name=lod=236 NA 5p13.3 Score=881;Name=V$CREB_02 NA NA NA rs4867440 0.94 0.94 0.953 0.91853 0.9553 0.8631 0.8775 0.9803 0.8834 0.95 0.91 0.92 0.98 0.9362 0.98 0.55 T 0.0 B 0.0 B 0.306 N 1.000 P 1.245 L 3.47 T -1.001 T 0.000 T 0.022 0.868 8.516 0.807 -0.069 -0.128 6.477 0.867541 NA 0.63 0.950349 0.978438 NA 0.935 NA 6.4914844 1011 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 1011 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=CCNT2,ZBTB7A_(SC-34508),HMGN3,GABP,GATA-1,Pol2 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 1011 11 66460527 66460527 C T exonic SPTBN2 NA synonymous SNV SPTBN2:NM_006946:exon24:c.G4899A:p.L1633L exonic ENSG00000173898 NA synonymous SNV ENSG00000173898:ENST00000529997:exon23:c.G4899A:p.L1633L,ENSG00000173898:ENST00000309996:exon24:c.G4899A:p.L1633L,ENSG00000173898:ENST00000533211:exon25:c.G4899A:p.L1633L Score=586;Name=lod=320 NA 11q13.2 NA NA NA NA rs639938 0.08 0.08 0.057 0.0776757 0.0567 0.1329 0.0562 0.056 0.0869 0.06 0.15 0.07 0.05 0.0694 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621249 NA NA 0.049942 0.050909 NA 0.072 NA 6.4906246 1011 11 48510654 48510654 A C exonic OR4A47 NA nonsynonymous SNV OR4A47:NM_001005512:exon1:c.A310C:p.I104L exonic ENSG00000237388 NA nonsynonymous SNV ENSG00000237388:ENST00000446524:exon1:c.A310C:p.I104L NA NA 11p11.2 NA NA NA NA rs7103557 0.54 0.54 0.511 0.480431 0.6451 0.4474 0.5922 0.3767 0.4059 0.64 0.49 0.62 0.37 0.5761 0.64 0.5 T 0.0 B 0.0 B 0.065 N 1.000 P . . 5.83 T -1.106 T 0.000 T 0.059 -2.153 0.005 1.05 -0.063 -2.133 4.316 -2.152709 NA 0.48 0.621801 0.440027 NA 0.486 NA 6.4903324 1011 17 16326005 16326005 A C exonic TRPV2 NA synonymous SNV TRPV2:NM_016113:exon4:c.A427C:p.R143R exonic ENSG00000187688 NA synonymous SNV ENSG00000187688:ENST00000338560:exon4:c.A427C:p.R143R NA NA 17p11.2 NA NA NA NA rs1129235 0.4 0.4 0.394 0.371605 0.3867 0.2302 0.366 0.5938 0.2055 0.38 0.26 0.41 0.58 0.3993 0.58 . . . . . . . . 0.980 P . . . . -0.972 T 0.000 T . 0.978 8.991 -2.87 -0.859 -0.477 14.000 0.977622 NA NA 0.390814 0.536087 NA 0.442 NA 6.4898526 1011 19 52941618 52941618 A C exonic ZNF534 NA nonsynonymous SNV ZNF534:NM_001143938:exon4:c.A905C:p.E302A,ZNF534:NM_001143939:exon4:c.A944C:p.E315A exonic ENSG00000198633 NA nonsynonymous SNV ENSG00000198633:ENST00000332323:exon4:c.A944C:p.E315A,ENSG00000198633:ENST00000433050:exon4:c.A905C:p.E302A NA NA 19q13.41 NA NA NA NA rs1366258 0.85 0.85 0.844 0.828075 0.9583 0.6587 0.9035 0.8245 0.82 0.97 0.67 0.92 0.83 0.916 0.97 0.02 D 0.828 P 0.593 P . . 1.000 P 1.635 L 3.24 T -1.011 T 0.000 T 0.126 1.535 11.08 -1.33 -0.706 -0.242 3.989 1.534891 1.534891 0.02 0.969291 0.844069 NA 0.877 NA 6.4897424 1011 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 1011 10 99130282 99130282 T G exonic RRP12 NA synonymous SNV RRP12:NM_001145114:exon21:c.A2436C:p.A812A,RRP12:NM_015179:exon23:c.A2619C:p.A873A exonic ENSG00000052749 NA synonymous SNV ENSG00000052749:ENST00000536831:exon17:c.A1773C:p.A591A,ENSG00000052749:ENST00000315563:exon20:c.A2319C:p.A773A,ENSG00000052749:ENST00000414986:exon21:c.A2436C:p.A812A,ENSG00000052749:ENST00000370992:exon23:c.A2619C:p.A873A Score=459;Name=lod=98 NA 10q24.1 NA NA NA NA rs11189170 0.04 0.04 0.034 0.0401358 0.0716 NA 0.0548 0.059 0.0133 0.07 NA 0.04 0.05 0.0488 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 -0.004573 NA NA 0.058488 0.057649 NA 0.022 NA 6.4877786 1011 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 1011 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 1011 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 1011 16 69381769 69381769 C T exonic TMED6 NA synonymous SNV TMED6:NM_144676:exon3:c.G411A:p.G137G exonic ENSG00000157315,ENSG00000259900 NA synonymous SNV ENSG00000157315:ENST00000288025:exon3:c.G411A:p.G137G Score=555;Name=lod=241 NA 16q22.1 NA NA NA NA rs16958777 0.07 0.07 0.07 0.076278 0.0547 0.0258 0.0692 0.1324 0.0798 0.06 0.03 0.07 0.11 0.063 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.011012 NA NA 0.062907 0.136033 NA 0.13 NA 6.4860596 1011 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 1011 17 3119049 3119049 C T exonic OR1A1 NA synonymous SNV OR1A1:NM_014565:exon1:c.C135T:p.I45I exonic ENSG00000172146 NA synonymous SNV ENSG00000172146:ENST00000304094:exon1:c.C135T:p.I45I Score=423;Name=lod=70 NA 17p13.3 NA NA NA NA rs4374201 0.06 0.06 0.052 0.0605032 0.0547 NA 0.0432 0.1566 0.0112 0.05 NA 0.06 0.14 0.0582 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01904 NA NA 0.068721 0.151611 NA 0.08 NA 6.4850456 1011 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$CEBP_C NA NA NA rs1802837 0.27 0.27 0.252 0.229034 0.3966 0.0704 0.3026 0.23 0.1667 0.41 0.09 0.27 0.25 0.3611 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.398055 NA NA 0.423954 0.258462 NA 0.304 NA 6.4850126 1012 1 11132217 11132217 G A exonic EXOSC10 NA synonymous SNV EXOSC10:NM_002685:exon19:c.C2094T:p.R698R,EXOSC10:NM_001001998:exon20:c.C2169T:p.R723R exonic ENSG00000171824 NA synonymous SNV ENSG00000171824:ENST00000304457:exon19:c.C2094T:p.R698R,ENSG00000171824:ENST00000376936:exon20:c.C2169T:p.R723R Score=471;Name=lod=109 NA 1p36.22 Score=792;Name=V$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 1012 2 112755001 112755001 A G exonic MERTK NA nonsynonymous SNV MERTK:NM_006343:exon10:c.A1552G:p.I518V exonic ENSG00000153208 NA nonsynonymous SNV ENSG00000153208:ENST00000409780:exon9:c.A1024G:p.I342V,ENSG00000153208:ENST00000295408:exon10:c.A1552G:p.I518V,ENSG00000153208:ENST00000421804:exon10:c.A1552G:p.I518V NA NA 2q13 NA NA NA NA rs2230515 0.52 0.52 0.509 0.561502 0.6252 0.2758 0.6037 0.6657 0.6196 0.62 0.22 0.6 0.65 0.5973 0.65 0.89 T 0.001 B 0.001 B 0.403 N 1.000 P -0.2 N -0.81 T -0.960 T 0.000 T 0.023 -1.164 0.093 -2.03 -0.584 -0.141 12.157 -1.164191 NA 0.62 0.626512 0.648434 NA 0.674 NA 6.4843214 1012 1 19201956 19201956 A G exonic ALDH4A1 NA synonymous SNV ALDH4A1:NM_001161504:exon13:c.T1200C:p.D400D,ALDH4A1:NM_003748:exon13:c.T1380C:p.D460D,ALDH4A1:NM_170726:exon13:c.T1380C:p.D460D exonic ENSG00000159423 NA synonymous SNV ENSG00000159423:ENST00000538839:exon12:c.T1227C:p.D409D,ENSG00000159423:ENST00000290597:exon13:c.T1380C:p.D460D,ENSG00000159423:ENST00000375341:exon13:c.T1380C:p.D460D,ENSG00000159423:ENST00000538309:exon13:c.T1200C:p.D400D NA NA 1p36.13 Score=749;Name=V$STAT5A_02 Name=CTCF_(SC-5916),GABP,TBP,CTCFL_(SC-98982),SMC3_(ab9263),Rad21,CTCF Name=148 NA rs2230708 0.73 0.73 0.725 0.73722 0.7386 0.7063 0.8112 0.705 0.7587 0.73 0.71 0.78 0.73 0.7298 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 -0.639981 NA NA 0.713953 0.679301 NA 0.768 NA 6.4843136 1012 17 17700573 17700573 T C exonic RAI1 NA synonymous SNV RAI1:NM_030665:exon3:c.T4311C:p.P1437P exonic ENSG00000108557 NA synonymous SNV ENSG00000108557:ENST00000261641:exon1:c.T4311C:p.P1437P,ENSG00000108557:ENST00000353383:exon3:c.T4311C:p.P1437P NA NA 17p11.2 NA NA NA NA rs4925112 0.1 0.1 0.098 0.0946486 0.0577 0.0069 0.0447 0.2655 0.0276 0.06 NA 0.05 0.31 0.0646 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.728151 NA NA 0.060233 0.247163 NA 0.094 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082268.3;CLNDSDB=.;CLNDSDBID=. 6.4841336 1012 12 100042163 100042163 A G exonic FAM71C NA nonsynonymous SNV FAM71C:NM_153364:exon1:c.A211G:p.M71V exonic ENSG00000180219 NA nonsynonymous SNV ENSG00000180219:ENST00000324341:exon1:c.A211G:p.M71V NA NA 12q23.1 NA NA NA NA rs11109969 0.24 0.24 0.22 0.216054 0.2903 0.0992 0.1772 0.298 0.1769 0.31 0.1 0.2 0.3 0.2623 0.31 . . 0.0 B 0.001 B 0.011 N 0.999 P -0.64 N 3.17 T -0.903 T 0.000 T 0.071 -2.91 0.001 1.97 0.210 -0.136 6.277 -2.909759 NA 1 0.296628 0.291194 NA 0.333 NA 6.4841054 1012 6 30043486 30043486 T C exonic RNF39 NA synonymous SNV RNF39:NM_025236:exon1:c.A81G:p.K27K,RNF39:NM_170769:exon1:c.A81G:p.K27K exonic ENSG00000204618 NA synonymous SNV ENSG00000204618:ENST00000244360:exon1:c.A81G:p.K27K,ENSG00000204618:ENST00000376751:exon1:c.A81G:p.K27K NA NA 6p22.1 NA Name=GATA3_(SC-268),CEBPB,Pol2,HEY1 NA NA rs11758516 0.13 0.13 0.132 0.136182 0.0398 0.1339 0.1138 0.2337 0.1217 0.04 0.16 0.14 0.24 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 2.131898 2.131898 NA 0.049651 0.192465 NA 0.13 NA 6.4840156 1012 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 1012 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$TCF11MAFG_01 NA NA NA rs61731067 0.05 0.05 0.049 0.0519169 0.0596 0.0407 0.0663 0.0234 0.0838 0.06 0.06 0.09 0.02 0.0596 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.598687 NA NA 0.064419 0.034952 NA 0.043 NA 6.4830476 1012 1 44084739 44084739 C T exonic PTPRF NA synonymous SNV PTPRF:NM_130440:exon26:c.C4485T:p.R1495R,PTPRF:NM_002840:exon27:c.C4512T:p.R1504R exonic ENSG00000142949 NA synonymous SNV ENSG00000142949:ENST00000372407:exon15:c.C1728T:p.R576R,ENSG00000142949:ENST00000422171:exon18:c.C2589T:p.R863R,ENSG00000142949:ENST00000372413:exon24:c.C4485T:p.R1495R,ENSG00000142949:ENST00000372414:exon25:c.C4512T:p.R1504R,ENSG00000142949:ENST00000438120:exon26:c.C4485T:p.R1495R,ENSG00000142949:ENST00000359947:exon27:c.C4512T:p.R1504R Score=681;Name=lod=783 NA 1p34.2 Score=748;Name=V$TAXCREB_02 NA NA NA rs1143701 0.77 0.77 0.785 0.73742 0.7167 0.7649 0.5764 0.9455 0.5634 0.73 0.74 0.66 0.93 0.7192 0.93 1 T . . . . 0.005 N 0.000 P . . . . . . . . . 0.609 7.282 0.888 -0.265 0.863 3.388 0.609324 NA NA 0.747791 0.916931 NA 0.819 NA 6.4829756 1012 7 151097323 151097323 A G exonic WDR86 NA synonymous SNV WDR86:NM_198285:exon2:c.T168C:p.H56H exonic ENSG00000187260 NA synonymous SNV ENSG00000187260:ENST00000334493:exon2:c.T168C:p.H56H,ENSG00000187260:ENST00000469830:exon2:c.T168C:p.H56H Score=475;Name=lod=114 NA 7q36.1 Score=683;Name=V$BRACH_01 NA Name=7 NA rs11767693 0.74 0.74 0.74 0.707468 0.7227 0.8194 0.7522 0.6611 0.6074 0.73 0.82 0.74 0.67 0.736 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.392403 NA 0 0.725141 0.689327 NA 0.754 NA 6.4828256 1012 16 82203742 82203742 T C exonic MPHOSPH6 NA synonymous SNV MPHOSPH6:NM_005792:exon1:c.A39G:p.L13L exonic ENSG00000135698 NA synonymous SNV ENSG00000135698:ENST00000258169:exon1:c.A39G:p.L13L,ENSG00000135698:ENST00000568016:exon1:c.A39G:p.L13L,ENSG00000135698:ENST00000569021:exon1:c.A39G:p.L13L Score=497;Name=lod=139 NA 16q23.3 NA Name=Sin3Ak-20,Max,YY1_(C-20),c-Myc,IRF1,Nrf1,YY1,CTCF,Pol2,Pol2(phosphoS2),ELF1_(SC-631),HEY1,TAF1,HMGN3,NFKB,Pol2-4H8 Name=148 NA rs1134847 0.68 0.68 0.56 0.642572 0.7465 0.7649 0.8127 0.4054 0.6094 0.76 0.76 0.79 0.4 0.7004 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.8757 1.8757 NA 0.736971 0.481128 ID=COSM1563469;OCCURENCE=1(large_intestine) 0.384 NA 6.4827956 1012 16 72993925 72993925 C T exonic ZFHX3 NA synonymous SNV ZFHX3:NM_006885:exon2:c.G120A:p.E40E exonic ENSG00000140836 NA synonymous SNV ENSG00000140836:ENST00000268489:exon2:c.G120A:p.E40E Score=757;Name=lod=1589 NA 16q22.3 NA NA NA NA rs62053192 0.03 0.03 0.034 0.0277556 0.0596 0.003 0.0331 0.0045 0.0481 0.06 NA 0.05 0.0041 0.055 0.069 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.698232 NA NA 0.069302 0.016606 NA NA NA 6.4827646 1012 4 84191031 84191031 A G exonic COQ2 NA synonymous SNV COQ2:NM_015697:exon5:c.T894C:p.D298D exonic ENSG00000173085 NA synonymous SNV ENSG00000173085:ENST00000503915:exon4:c.T435C:p.D145D,ENSG00000173085:ENST00000311461:exon5:c.T744C:p.D248D,ENSG00000173085:ENST00000311469:exon5:c.T894C:p.D298D,ENSG00000173085:ENST00000439031:exon5:c.T783C:p.D261D Score=601;Name=lod=368 NA 4q21.23 Score=782;Name=V$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 1012 19 16008257 16008257 T C exonic CYP4F2 NA synonymous SNV CYP4F2:NM_001082:exon2:c.A165G:p.P55P exonic ENSG00000186115 NA nonsynonymous SNV ENSG00000186115:ENST00000587671:exon2:c.A68G:p.Q23R NA NA 19p13.12 Score=812;Name=V$RREB1_01 NA NA NA rs3093106 0.17 0.17 0.175 0.180112 0.1769 0.0585 0.1427 0.32 0.1462 0.16 0.07 0.19 0.3 0.168 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034422 NA NA 0.172558 0.315252 NA 0.181 NA 6.482542 1012 16 72993706 72993706 G A exonic ZFHX3 NA synonymous SNV ZFHX3:NM_006885:exon2:c.C339T:p.A113A exonic ENSG00000140836 NA synonymous SNV ENSG00000140836:ENST00000268489:exon2:c.C339T:p.A113A Score=527;Name=lod=185 NA 16q22.3 NA NA NA NA rs62053191 0.03 0.03 0.03 0.0273562 0.0596 0.002 0.0303 0.0061 0.047 0.06 NA 0.04 0.01 0.0566 0.068 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.959055 NA NA 0.068034 0.016379 NA NA NA 6.4824326 1012 1 109810183 109810183 C T exonic CELSR2 NA synonymous SNV CELSR2:NM_001408:exon16:c.C6027T:p.R2009R exonic ENSG00000143126 NA synonymous SNV ENSG00000143126:ENST00000271332:exon16:c.C6027T:p.R2009R Score=596;Name=lod=353 NA 1p13.3 NA NA NA NA rs61761209 0.04 0.04 0.023 0.0351438 0.0805 0.001 0.0447 0.0023 0.0613 0.08 0.0017 0.06 0.002 0.0493 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.137723 NA NA 0.054535 0.011575 NA 0.014 NA 6.4823316 1012 9 97369149 97369149 C T exonic FBP1 NA nonsynonymous SNV FBP1:NM_000507:exon5:c.G653A:p.R218K,FBP1:NM_001127628:exon6:c.G653A:p.R218K exonic ENSG00000165140 NA nonsynonymous SNV ENSG00000165140:ENST00000375326:exon5:c.G653A:p.R218K,ENSG00000165140:ENST00000414122:exon5:c.G401A:p.R134K,ENSG00000165140:ENST00000415431:exon6:c.G653A:p.R218K Score=560;Name=lod=252 NA 9q22.32 Score=877;Name=V$COUP_01 NA NA NA rs1769259 0.98 0.98 0.975 0.976438 0.9553 1 0.9856 0.9909 0.9479 0.95 1 0.98 0.99 0.9561 1 1 T 0.0 B 0.001 B 0.002 N 1.000 P -0.3 N -0.76 T -0.943 T 0.000 T 0.04 0.308 5.671 1.55 0.384 0.098 6.045 0.308428 NA 1 0.939884 0.982751 NA 0.616 NA 6.4820494 1012 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 1012 18 59483310 59483310 G A exonic RNF152 NA synonymous SNV RNF152:NM_173557:exon2:c.C387T:p.S129S exonic ENSG00000176641 NA synonymous SNV ENSG00000176641:ENST00000312828:exon2:c.C387T:p.S129S NA NA 18q21.33 Score=822;Name=V$RFX1_02 NA NA NA rs4362478 0.03 0.03 0.023 0.0223642 0.0746 NA 0.0187 0.0106 0.0102 0.08 NA 0.02 0.01 0.0473 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.507629 NA NA 0.063488 0.02542 ID=COSM438286;OCCURENCE=1(breast) 0.007 NA 6.4812786 1012 11 66328741 66328741 A C exonic ACTN3 NA unknown UNKNOWN exonic ENSG00000248746 NA unknown UNKNOWN Score=587;Name=lod=323 NA 11q13.2 Score=742;Name=V$MYOGNF1_01 NA NA NA rs2229456 0.16 0.16 0.149 0.16274 0.169 0.1815 0.1052 0.1702 0.1677 0.17 0.16 0.13 0.16 0.1826 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.479637 4.479637 NA 0.167142 0.134456 NA 0.116 NA 6.481258 1012 11 85436352 85436352 G A exonic SYTL2 NA nonsynonymous SNV SYTL2:NM_206927:exon1:c.C1148T:p.T383M,SYTL2:NM_206928:exon1:c.C1148T:p.T383M exonic ENSG00000137501 NA nonsynonymous SNV ENSG00000137501:ENST00000354566:exon1:c.C1148T:p.T383M,ENSG00000137501:ENST00000359152:exon1:c.C2720T:p.T907M,ENSG00000137501:ENST00000389959:exon1:c.C1148T:p.T383M,ENSG00000137501:ENST00000525423:exon1:c.C1148T:p.T383M Score=369;Name=lod=42 NA 11q14.1 NA NA NA NA rs641393 0.55 0.55 0.539 0.521366 0.6282 0.5972 0.4957 0.4062 0.5072 0.63 0.56 0.54 0.41 0.5924 0.63 . . 0.003 B 0.002 B 0.437 N 0.000 P -0.205 N 1.79 T -0.970 T 0.000 T 0.013 -0.888 0.463 -0.906 -0.026 -0.488 2.874 -0.88814 NA 0.04 0.631573 0.43645 NA 0.341 NA 6.4811604 1012 22 50558946 50558946 A G exonic MOV10L1 NA synonymous SNV MOV10L1:NM_001164104:exon10:c.A1470G:p.Q490Q,MOV10L1:NM_001164105:exon10:c.A1410G:p.Q470Q,MOV10L1:NM_018995:exon10:c.A1470G:p.Q490Q exonic ENSG00000073146 NA synonymous SNV ENSG00000073146:ENST00000262794:exon10:c.A1470G:p.Q490Q,ENSG00000073146:ENST00000395858:exon10:c.A1470G:p.Q490Q,ENSG00000073146:ENST00000540615:exon10:c.A1410G:p.Q470Q,ENSG00000073146:ENST00000545383:exon11:c.A1470G:p.Q490Q Score=445;Name=lod=86 NA 22q13.33 NA NA NA NA rs71316583 0.03 0.03 0.032 0.0245607 0.0696 NA 0.0389 0.003 0.0225 0.07 NA 0.04 NA 0.0471 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 1.021347 NA NA 0.068837 0.012483 NA 0.022 NA 6.4811296 1012 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 1012 18 61390332 61390332 C T exonic SERPINB11 NA unknown UNKNOWN exonic ENSG00000206072 NA nonsynonymous SNV ENSG00000206072:ENST00000538847:exon3:c.C272T:p.T91I,ENSG00000206072:ENST00000536691:exon7:c.C353T:p.T118I NA NA 18q21.33 NA NA NA NA rs1395266 0.75 0.75 0.744 0.722444 0.7416 0.8512 0.7277 0.6324 0.6881 0.76 0.84 0.75 0.66 0.7209 0.84 0.1 T 0.0 B 0.0 B 0.251 N 1.000 P . . -1.87 D -0.976 T 0.000 T 0.072 -0.532 1.578 -0.96 -0.261 1.730 7.571 -0.532379 NA NA 0.723605 0.651828 NA 0.826 NA 6.4805617 1012 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 1012 17 40842762 40842762 C A exonic CNTNAP1 NA synonymous SNV CNTNAP1:NM_003632:exon13:c.C1861A:p.R621R exonic ENSG00000108797 NA synonymous SNV ENSG00000108797:ENST00000264638:exon13:c.C1861A:p.R621R,ENSG00000108797:ENST00000591662:exon13:c.C1861A:p.R621R Score=409;Name=lod=61 NA 17q21.2 NA NA NA NA rs1553469 0.04 0.04 0.033 0.0395367 0.0497 NA 0.1196 0.0242 0.0337 0.05 NA 0.1 0.02 0.0659 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 0.88406 NA NA 0.070581 0.027463 NA 0.051 NA 6.4804856 1012 9 133946909 133946909 G A exonic LAMC3 NA synonymous SNV LAMC3:NM_006059:exon18:c.G3108A:p.G1036G exonic ENSG00000050555 NA synonymous SNV ENSG00000050555:ENST00000361069:exon18:c.G3108A:p.G1036G Score=417;Name=lod=66 NA 9q34.12 NA NA NA NA rs10901344 0.29 0.29 0.283 0.292931 0.4115 0.1944 0.3285 0.1619 0.4243 0.4 0.22 0.35 0.17 0.3693 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.162091 NA NA 0.405465 0.197004 NA 0.333 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117465.2|RCV000126556.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.4804016 1012 9 133946915 133946915 C G exonic LAMC3 NA synonymous SNV LAMC3:NM_006059:exon18:c.C3114G:p.L1038L exonic ENSG00000050555 NA synonymous SNV ENSG00000050555:ENST00000361069:exon18:c.C3114G:p.L1038L Score=417;Name=lod=66 NA 9q34.12 NA NA NA NA rs10901345 0.29 0.29 0.292 0.293131 0.4115 0.1954 0.3285 0.1619 0.4243 0.4 0.22 0.35 0.17 0.3694 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.586823 NA NA 0.405465 0.197004 NA 0.333 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117466.2|RCV000126557.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.4803016 1012 20 44420682 44420682 T C exonic DNTTIP1 NA synonymous SNV DNTTIP1:NM_052951:exon1:c.T39C:p.P13P exonic ENSG00000101457 NA synonymous SNV ENSG00000101457:ENST00000372622:exon1:c.T39C:p.P13P,ENSG00000101457:ENST00000449078:exon1:c.T24C:p.P8P Score=500;Name=lod=143 NA 20q13.12 Score=784;Name=V$HEN1_01 Name=TAF1,HMGN3,RFX5_(N-494),GABP,Pol2-4H8,HNF4G_(SC-6558),ELF1_(SC-631),GRp20,HEY1,E2F1,Pol2(phosphoS2),FOSL2,Pol2,HA-E2F1,TBP,CCNT2,ELK4,HNF4A_(H-171),ZBTB7A_(SC-34508),YY1,BAF155,JunD,YY1_(C-20),E2F4 NA NA rs2664591 0.69 0.69 0.663 0.670527 0.7058 0.6458 0.7968 0.6952 0.5368 0.73 0.62 0.77 0.64 0.7302 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 1.850928 1.850928 NA 0.750503 0.7584 NA 0.739 NA 6.4801636 1012 7 72754645 72754645 G A exonic FKBP6 NA synonymous SNV FKBP6:NM_001135211:exon6:c.G579A:p.L193L,FKBP6:NM_003602:exon6:c.G594A:p.L198L exonic ENSG00000077800 NA synonymous SNV ENSG00000077800:ENST00000413573:exon5:c.G504A:p.L168L,ENSG00000077800:ENST00000442793:exon5:c.G459A:p.L153L,ENSG00000077800:ENST00000252037:exon6:c.G594A:p.L198L,ENSG00000077800:ENST00000431982:exon6:c.G579A:p.L193L NA NA 7q11.23 NA NA Name=2 NA rs56301507 0.07 0.07 0.045 0.0477236 0.0686 0.0784 0.1124 0.003 0.0092 0.07 0.09 0.12 0.01 0.0622 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 -0.057995 NA NA 0.056761 0.01599 NA 0.08 NA 6.4791056 1012 17 77705045 77705045 T C exonic ENPP7 NA synonymous SNV ENPP7:NM_178543:exon1:c.T144C:p.D48D exonic ENSG00000182156 NA synonymous SNV ENSG00000182156:ENST00000328313:exon1:c.T144C:p.D48D Score=597;Name=lod=356 NA 17q25.3 NA Name=HEY1,Pol2 NA NA rs8074728 0.49 0.49 0.492 0.514976 0.3777 0.5129 0.3372 0.7005 0.5337 0.37 0.54 0.36 0.72 0.4272 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.528401 1.528401 NA 0.382791 0.643668 NA 0.616 NA 6.4789756 1012 2 152135415 152135415 C T exonic NMI NA synonymous SNV NMI:NM_004688:exon4:c.G267A:p.S89S exonic ENSG00000123609 NA synonymous SNV ENSG00000123609:ENST00000243346:exon4:c.G267A:p.S89S Score=378;Name=lod=46 NA 2q23.3 NA NA NA NA rs11551174 0.05 0.05 0.036 0.0595048 0.0527 0.002 0.1225 0.0514 0.092 0.06 0.0035 0.09 0.06 0.0689 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 1.326247 1.326247 NA 0.066395 0.060145 NA 0.022 NA 6.4786716 1012 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 1012 2 234750831 234750831 T C exonic HJURP NA nonsynonymous SNV HJURP:NM_018410:exon8:c.A595G:p.R199G exonic ENSG00000123485 NA nonsynonymous SNV ENSG00000123485:ENST00000414924:exon5:c.A340G:p.R114G,ENSG00000123485:ENST00000441687:exon5:c.A340G:p.R114G,ENSG00000123485:ENST00000432087:exon6:c.A433G:p.R145G,ENSG00000123485:ENST00000454020:exon7:c.A472G:p.R158G,ENSG00000123485:ENST00000411486:exon8:c.A595G:p.R199G NA NA 2q37.1 NA NA NA NA rs3806589 0.72 0.72 0.723 0.711661 0.6093 0.7579 0.6715 0.8525 0.6074 0.63 0.76 0.66 0.84 0.6395 0.84 1 T 0.0 B 0.0 B 0.507 N 1.000 P -1.59 N 3.23 T -0.964 T 0.000 T 0.305 -0.128 3.372 1.37 0.049 -1.031 3.157 -0.128248 NA 0.58 0.60593 0.785747 NA 0.797 NA 6.4786034 1012 20 61386231 61386231 C T exonic NTSR1 NA synonymous SNV NTSR1:NM_002531:exon2:c.C909T:p.R303R exonic ENSG00000101188 NA synonymous SNV ENSG00000101188:ENST00000370501:exon2:c.C909T:p.R303R Score=401;Name=lod=57 NA 20q13.33 NA NA NA NA rs6010685 0.05 0.05 0.051 0.0636981 0.0616 0.0198 0.0202 0.1142 0.0736 0.06 0.02 0.02 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 -0.766753 NA NA 0.051351 0.107874 NA 0.065 NA 6.4784156 1012 15 89056292 89056292 G T exonic DET1 NA synonymous SNV DET1:NM_001144074:exon5:c.C1543A:p.R515R,DET1:NM_017996:exon6:c.C1576A:p.R526R exonic ENSG00000140543 NA synonymous SNV ENSG00000140543:ENST00000268148:exon5:c.C1543A:p.R515R,ENSG00000140543:ENST00000444300:exon5:c.C1576A:p.R526R,ENSG00000140543:ENST00000564406:exon6:c.C1576A:p.R526R Score=278;Name=lod=18 NA 15q25.3 NA NA NA NA rs75714837 0.04 0.04 0.033 0.0263578 0.0795 NA 0.0418 0.0038 0.0184 0.09 NA 0.06 0.002 0.0453 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 1.314136 1.314136 NA 0.06438 0.010307 NA 0.022 NA 6.4774866 1012 16 81157385 81157385 G T exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN Score=520;Name=lod=173 NA 16q23.2 NA Name=TAL1_(SC-12984) NA NA rs8050204 0.25 0.25 0.229 0.232029 0.1839 0.377 0.1945 0.1936 0.2106 0.18 0.38 0.22 0.21 0.1893 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.415629 2.415629 NA 0.149368 0.166998 NA 0.13 NA 6.477432 1012 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 1012 9 123716103 123716103 T C exonic C5 NA synonymous SNV C5:NM_001735:exon40:c.A4806G:p.K1602K exonic ENSG00000106804 NA synonymous SNV ENSG00000106804:ENST00000223642:exon40:c.A4806G:p.K1602K Score=403;Name=lod=58 NA 9q33.2 NA NA NA NA rs41258306 0.04 0.04 0.034 0.0523163 0.0606 0.002 0.0389 0.0711 0.0798 0.06 NA 0.04 0.05 0.0592 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 -0.657729 NA NA 0.07 0.0665 NA 0.087 NA 6.4768666 1012 2 141773397 141773397 C A exonic LRP1B NA synonymous SNV LRP1B:NM_018557:exon13:c.G2058T:p.R686R exonic ENSG00000168702 NA synonymous SNV ENSG00000168702:ENST00000389484:exon13:c.G2058T:p.R686R Score=772;Name=lod=1827 NA 2q22.1 NA NA NA NA rs78806080 0.03 0.03 0.028 0.0339457 0.0736 0.002 0.0274 NA 0.0767 0.07 0.0035 0.03 0.002 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 0.916387 NA NA 0.063488 0.012029 NA 0.022 NA 6.4767786 1012 14 69799806 69799806 C T exonic GALNT16 NA synonymous SNV GALNT16:NM_001168368:exon8:c.C783T:p.F261F,GALNT16:NM_020692:exon8:c.C783T:p.F261F exonic ENSG00000100626 NA synonymous SNV ENSG00000100626:ENST00000337827:exon8:c.C783T:p.F261F,ENSG00000100626:ENST00000448469:exon8:c.C783T:p.F261F,ENSG00000100626:ENST00000553471:exon8:c.C783T:p.F261F,ENSG00000100626:ENST00000553669:exon8:c.C783T:p.F261F Score=581;Name=lod=305 NA 14q24.1 NA NA NA NA rs2274440 0.08 0.08 0.081 0.0872604 0.0606 0.1964 0.0418 0.0144 0.1329 0.06 0.17 0.05 0.02 0.0718 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.309976 1.309976 NA 0.057791 0.024285 ID=COSM147802;OCCURENCE=1(stomach) 0.051 NA 6.4764756 1012 20 5939214 5939214 A C exonic MCM8 NA synonymous SNV MCM8:NM_032485:exon7:c.A631C:p.R211R,MCM8:NM_182802:exon7:c.A631C:p.R211R exonic ENSG00000125885 NA synonymous SNV ENSG00000125885:ENST00000265187:exon7:c.A631C:p.R211R,ENSG00000125885:ENST00000378883:exon7:c.A631C:p.R211R,ENSG00000125885:ENST00000378886:exon7:c.A631C:p.R211R,ENSG00000125885:ENST00000378896:exon7:c.A631C:p.R211R Score=573;Name=lod=283 NA 20p12.3 NA NA NA NA rs3761873 0.13 0.13 0.143 0.120008 0.0616 0.2649 0.0519 0.1082 0.0951 0.05 0.28 0.06 0.12 0.076 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.350814 1.350814 NA 0.053023 0.103722 NA 0.087 NA 6.4760436 1012 17 30477681 30477681 C A ncRNA_exonic ARGFXP2 NA NA NA ncRNA_exonic ENSG00000265293 NA NA NA NA NA 17q11.2 NA Name=GATA2_(CG2-96),GATA-2,Pol2-4H8 Name=3 NA rs73989707 0.2 0.2 0.205 0.217851 0.1909 0.2222 0.2118 0.1936 0.2781 0.18 0.22 0.19 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 -1.097882 NA NA NA NA NA 0.21 NA 6.4757666 1012 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 1012 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 1013 13 37580139 37580139 G A exonic EXOSC8 NA synonymous SNV EXOSC8:NM_181503:exon6:c.G321A:p.Q107Q exonic ENSG00000120699 NA synonymous SNV ENSG00000120699:ENST00000389704:exon6:c.G321A:p.Q107Q Score=635;Name=lod=509 NA 13q13.3 Score=923;Name=V$MYB_Q6 NA NA NA rs1127446 0.42 0.42 0.392 0.413538 0.3797 0.7232 0.4236 0.0817 0.5706 0.39 0.7 0.43 0.11 0.4134 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 0.857296 NA NA 0.398605 0.141625 NA 0.348 NA 6.4749616 1013 22 29533499 29533499 G A exonic KREMEN1 NA synonymous SNV KREMEN1:NM_001039570:exon6:c.G801A:p.A267A,KREMEN1:NM_032045:exon6:c.G801A:p.A267A exonic ENSG00000183762 NA nonsynonymous SNV ENSG00000183762:ENST00000453585:exon3:c.G205A:p.G69R Score=577;Name=lod=295 NA 22q12.1 NA NA NA NA rs35612970 0.11 0.11 0.127 0.108427 0.1958 0.0427 0.111 0.0726 0.1329 0.2 0.02 0.11 0.09 0.1558 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.900561 1.900561 NA 0.173492 0.081997 NA 0.246 NA 6.474908 1013 X 122537277 122537277 T C exonic GRIA3 NA synonymous SNV GRIA3:NM_000828:exon9:c.T1200C:p.N400N,GRIA3:NM_007325:exon9:c.T1200C:p.N400N exonic ENSG00000125675 NA synonymous SNV ENSG00000125675:ENST00000264357:exon9:c.T1200C:p.N400N,ENSG00000125675:ENST00000371251:exon9:c.T1200C:p.N400N,ENSG00000125675:ENST00000371256:exon9:c.T1200C:p.N400N,ENSG00000125675:ENST00000541091:exon9:c.T1152C:p.N384N,ENSG00000125675:ENST00000542149:exon9:c.T1200C:p.N400N Score=616;Name=lod=427 NA Xq25 NA NA NA NA rs502434 0.6 0.6 0.58585 NA NA NA NA NA NA 0.63 0.71 0.58 0.44 0.5807 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.990779 NA NA 0.611623 0.429465 ID=COSM1465322,COSM1465321;OCCURENCE=1(large_intestine) 0.42 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117156.2;CLNDSDB=.;CLNDSDBID=. 6.4743436 1013 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=BATF,PAX5-N19,PU.1,NFKB,IRF4_(M-17),ZEB1_(SC-25388),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 1013 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$E2F_01 NA NA NA rs758037 0.61 0.61 0.598 0.609026 0.6312 0.7212 0.5692 0.3986 0.7832 0.65 0.71 0.61 0.44 0.6182 0.71 0.06 T 0.004 B 0.0 B 0.224 N 1.000 P 0.345 N 3.58 T -1.083 T 0.000 T 0.048 1.234 10.01 1.22 -0.025 0.651 5.682 1.233918 1.233918 0.11 0.609884 0.437131 NA 0.507 NA 6.4740494 1013 1 22180723 22180723 C T exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon50:c.G6402A:p.V2134V exonic ENSG00000142798 NA synonymous SNV ENSG00000142798:ENST00000374695:exon50:c.G6402A:p.V2134V Score=358;Name=lod=38 NA 1p36.12 NA NA NA NA rs12742444 0.02 0.02 0.019 0.0345447 0.0487 NA 0.0245 0.0015 0.1074 0.05 NA 0.03 0.0041 0.0895 0.055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.988127 2.988127 NA 0.054702 0.009331 NA 0.022 NA 6.4737646 1013 8 41798417 41798417 C T exonic KAT6A NA synonymous SNV KAT6A:NM_006766:exon15:c.G2982A:p.P994P,KAT6A:NM_001099412:exon16:c.G2982A:p.P994P,KAT6A:NM_001099413:exon16:c.G2982A:p.P994P exonic ENSG00000083168 NA synonymous SNV ENSG00000083168:ENST00000418721:exon8:c.G1722A:p.P574P,ENSG00000083168:ENST00000265713:exon15:c.G2982A:p.P994P,ENSG00000083168:ENST00000396930:exon16:c.G2982A:p.P994P,ENSG00000083168:ENST00000406337:exon16:c.G2982A:p.P994P NA NA 8p11.21 Score=824;Name=V$PPARG_03 NA NA NA rs3824275 0.14 0.14 NA 0.163938 0.0716 0.2341 0.1859 0.0998 0.2577 0.08 0.23 0.15 0.12 0.1216 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463903 NA NA NA NA NA 0.109 NA 6.4734666 1013 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$MEIS1_01 NA NA NA rs974144 0.31 0.31 0.273 0.294728 0.4225 0.3135 0.2565 0.1203 0.407 0.42 0.33 0.27 0.14 0.3724 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.977272 NA NA 0.39893 0.178928 ID=COSM429983;OCCURENCE=1(breast) 0.37 NA 6.4728366 1013 3 52610651 52610651 T A exonic PBRM1 NA synonymous SNV PBRM1:NM_018313:exon23:c.A3522T:p.P1174P exonic ENSG00000163939 NA synonymous SNV ENSG00000163939:ENST00000356770:exon21:c.A3501T:p.P1167P,ENSG00000163939:ENST00000296302:exon22:c.A3597T:p.P1199P,ENSG00000163939:ENST00000337303:exon22:c.A3597T:p.P1199P,ENSG00000163939:ENST00000409057:exon22:c.A3597T:p.P1199P,ENSG00000163939:ENST00000410007:exon22:c.A3522T:p.P1174P,ENSG00000163939:ENST00000423351:exon22:c.A3594T:p.P1198P,ENSG00000163939:ENST00000394830:exon23:c.A3522T:p.P1174P,ENSG00000163939:ENST00000409114:exon23:c.A3642T:p.P1214P,ENSG00000163939:ENST00000409767:exon23:c.A3642T:p.P1214P Score=616;Name=lod=427 NA 3p21.1 Score=797;Name=V$FREAC4_01 NA NA NA rs17264436 0.39 0.39 0.392 0.316094 0.4165 0.4276 0.4582 0.1483 0.2239 0.42 0.49 0.47 0.16 0.3752 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.209265 NA NA 0.402558 0.173854 NA 0.217 NA 6.4724086 1013 3 193031926 193031926 C T exonic ATP13A5 NA nonsynonymous SNV ATP13A5:NM_198505:exon19:c.G2215A:p.G739S exonic ENSG00000187527 NA nonsynonymous SNV ENSG00000187527:ENST00000342358:exon19:c.G2215A:p.G739S NA NA 3q29 NA NA NA NA rs2280268 0.55 0.55 0.544 0.530751 0.6382 0.6508 0.5375 0.323 0.5726 0.63 0.64 0.53 0.32 0.5967 0.64 1 T 0.053 B 0.07 B 0.018 N 1.000 P 0.53 N 0.44 T -0.918 T 0.000 T 0.04 2.317 13.7 3.11 0.397 0.468 5.398 2.316653 2.316653 0.53 0.626163 0.369042 ID=COSM1179815;OCCURENCE=1(prostate) 0.551 NA 6.4722704 1013 3 10976876 10976876 A G exonic SLC6A11 NA synonymous SNV SLC6A11:NM_014229:exon13:c.A1737G:p.T579T exonic ENSG00000132164 NA synonymous SNV ENSG00000132164:ENST00000254488:exon13:c.A1737G:p.T579T NA NA 3p25.3 Score=738;Name=V$PPARG_02 Name=CTCF NA NA rs2245532 0.35 0.35 0.381 0.334864 0.4254 0.1012 0.2954 0.5363 0.2382 0.42 0.11 0.35 0.55 0.3594 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.323839 NA NA 0.409651 0.526101 NA 0.42 NA 6.4722156 1013 12 48376291 48376291 G A exonic COL2A1 NA synonymous SNV COL2A1:NM_033150:exon33:c.C2088T:p.G696G,COL2A1:NM_001844:exon34:c.C2295T:p.G765G exonic ENSG00000139219 NA synonymous SNV ENSG00000139219:ENST00000337299:exon33:c.C2088T:p.G696G,ENSG00000139219:ENST00000380518:exon34:c.C2295T:p.G765G Score=509;Name=lod=156 NA 12q13.11 Score=785;Name=V$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 1013 15 40914772 40914772 C T exonic CASC5 NA synonymous SNV CASC5:NM_144508:exon10:c.C2310T:p.V770V,CASC5:NM_170589:exon11:c.C2388T:p.V796V exonic ENSG00000137812 NA synonymous SNV ENSG00000137812:ENST00000399668:exon10:c.C2310T:p.V770V,ENSG00000137812:ENST00000346991:exon11:c.C2388T:p.V796V Score=431;Name=lod=75 NA 15q15.1 NA NA NA NA rs11855334 0.35 0.35 0.336 0.350839 0.3986 0.254 0.3285 0.348 0.4213 0.42 0.25 0.34 0.35 0.3928 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.708081 NA NA 0.403622 0.360116 ID=COSM147881;OCCURENCE=1(stomach) 0.384 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116562.1;CLNDSDB=.;CLNDSDBID=. 6.4716446 1013 14 21250212 21250212 T C exonic RNASE6 NA synonymous SNV RNASE6:NM_005615:exon2:c.T354C:p.A118A exonic ENSG00000169413 NA synonymous SNV ENSG00000169413:ENST00000304677:exon2:c.T354C:p.A118A NA NA 14q11.2 NA NA Name=7 NA rs34972223 0.04 0.04 0.035 0.0235623 0.0755 NA 0.0432 0.0068 0.0031 0.08 NA 0.06 0.01 0.0472 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 0.249281 NA NA 0.072558 0.017022 NA 0.065 NA 6.4714086 1013 9 139905141 139905141 G A exonic ABCA2 NA synonymous SNV ABCA2:NM_001606:exon40:c.C6105T:p.A2035A,ABCA2:NM_212533:exon40:c.C6195T:p.A2065A exonic ENSG00000107331 NA synonymous SNV ENSG00000107331:ENST00000371605:exon39:c.C6102T:p.A2034A,ENSG00000107331:ENST00000265662:exon40:c.C6105T:p.A2035A,ENSG00000107331:ENST00000341511:exon40:c.C6105T:p.A2035A Score=483;Name=lod=123 NA 9q34.3 NA NA NA NA rs112887513 0.04 0.04 0.049 0.0656949 0.0586 0.0437 0.0447 0.0234 0.1677 0.06 0.05 0.04 0.03 0.0695 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 -0.835162 NA NA 0.067215 0.024407 NA NA NA 6.4713516 1013 12 20852546 20852546 C T exonic SLCO1C1 NA synonymous SNV SLCO1C1:NM_017435:exon2:c.C36T:p.F12F,SLCO1C1:NM_001145945:exon3:c.C36T:p.F12F,SLCO1C1:NM_001145946:exon3:c.C36T:p.F12F exonic ENSG00000139155 NA synonymous SNV ENSG00000139155:ENST00000266509:exon2:c.C36T:p.F12F,ENSG00000139155:ENST00000381552:exon2:c.C36T:p.F12F,ENSG00000139155:ENST00000539415:exon3:c.C36T:p.F12F,ENSG00000139155:ENST00000540354:exon3:c.C36T:p.F12F,ENSG00000139155:ENST00000545604:exon3:c.C36T:p.F12F Score=467;Name=lod=105 NA 12p12.2 NA NA NA NA rs34243130 0.04 0.04 0.028 0.0315495 0.0586 NA 0.1153 0.0061 0.0112 0.06 NA 0.11 0.01 0.063 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 0.936513 NA NA 0.073738 0.01793 NA 0.072 NA 6.4713286 1013 21 47635627 47635627 C G exonic LSS NA synonymous SNV LSS:NM_001145437:exon7:c.G624C:p.P208P,LSS:NM_001001438:exon8:c.G864C:p.P288P,LSS:NM_001145436:exon8:c.G831C:p.P277P,LSS:NM_002340:exon8:c.G864C:p.P288P exonic ENSG00000160285 NA synonymous SNV ENSG00000160285:ENST00000457828:exon7:c.G624C:p.P208P,ENSG00000160285:ENST00000356396:exon8:c.G864C:p.P288P,ENSG00000160285:ENST00000397728:exon8:c.G864C:p.P288P,ENSG00000160285:ENST00000522411:exon8:c.G831C:p.P277P NA NA 21q22.3 Score=847;Name=V$AHRARNT_01 NA Name=2 NA rs9980968 0.33 0.33 0.338 0.361022 0.4235 0.127 0.2781 0.4675 0.453 0.42 0.12 0.33 0.43 0.3763 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.654988 NA NA 0.395698 0.437812 NA 0.37 NA 6.4711686 1013 16 72993622 72993622 C T exonic ZFHX3 NA synonymous SNV ZFHX3:NM_006885:exon2:c.G423A:p.A141A exonic ENSG00000140836 NA synonymous SNV ENSG00000140836:ENST00000268489:exon2:c.G423A:p.A141A NA NA 16q22.3 NA NA NA Score=75;Name=930629.7_0_+_75 rs62053190 0.04 0.04 0.051 0.04373 0.0616 0.003 0.0317 0.0507 0.0665 0.06 NA 0.04 0.05 0.0638 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 0.665566 NA NA 0.070233 0.062784 ID=COSM435759;OCCURENCE=1(breast) 0.029 NA 6.4710336 1013 15 40915894 40915894 T C exonic CASC5 NA synonymous SNV CASC5:NM_144508:exon10:c.T3432C:p.N1144N,CASC5:NM_170589:exon11:c.T3510C:p.N1170N exonic ENSG00000137812 NA synonymous SNV ENSG00000137812:ENST00000399668:exon10:c.T3432C:p.N1144N,ENSG00000137812:ENST00000346991:exon11:c.T3510C:p.N1170N NA NA 15q15.1 NA Name=GATA-1 NA NA rs11070285 0.35 0.35 0.353 0.351837 0.3986 0.254 0.3285 0.3502 0.4233 0.42 0.25 0.34 0.36 0.3935 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.591883 NA NA 0.404605 0.366933 NA 0.391 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116568.1;CLNDSDB=.;CLNDSDBID=. 6.4699616 1013 2 172966250 172966250 T C exonic DLX2 NA synonymous SNV DLX2:NM_004405:exon2:c.A525G:p.Q175Q exonic ENSG00000115844 NA synonymous SNV ENSG00000115844:ENST00000234198:exon2:c.A525G:p.Q175Q,ENSG00000115844:ENST00000466293:exon2:c.A525G:p.Q175Q Score=687;Name=lod=827 NA 2q31.1 NA NA Name=81 NA rs2228184 0.39 0.39 0.364 0.358826 0.3907 0.6587 0.3098 0.1021 0.3988 0.4 0.69 0.29 0.12 0.4103 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 1.368289 1.368289 NA 0.395814 0.154789 NA 0.399 NA 6.4698526 1013 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 1013 14 30066929 30066929 A G exonic PRKD1 NA synonymous SNV PRKD1:NM_002742:exon16:c.T2202C:p.I734I exonic ENSG00000184304 NA synonymous SNV ENSG00000184304:ENST00000331968:exon16:c.T2202C:p.I734I,ENSG00000184304:ENST00000415220:exon17:c.T2226C:p.I742I Score=619;Name=lod=436 NA 14q12 Score=903;Name=V$CDPCR3HD_01 NA NA NA rs2230505 0.46 0.46 0.461 0.511781 0.3837 0.2113 0.4568 0.851 0.5337 0.38 0.23 0.44 0.85 0.435 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 1.393689 1.393689 NA 0.378837 0.764639 NA 0.587 NA 6.4691296 1013 2 204116690 204116690 C T exonic CYP20A1 NA nonsynonymous SNV CYP20A1:NM_177538:exon4:c.C290T:p.S97L exonic ENSG00000119004 NA nonsynonymous SNV ENSG00000119004:ENST00000356079:exon4:c.C290T:p.S97L,ENSG00000119004:ENST00000429815:exon4:c.C290T:p.S97L,ENSG00000119004:ENST00000443941:exon4:c.C290T:p.S97L,ENSG00000119004:ENST00000449301:exon4:c.C290T:p.S97L NA NA 2q33.2 NA NA NA NA rs2043449 0.88 0.88 0.862 0.869409 0.9632 0.9266 0.9366 0.6611 0.9479 0.97 0.92 0.94 0.64 0.9364 0.97 . . 0.002 B 0.002 B 0.041 N 0.735 P 0.805 L -0.41 T -0.970 T 0.000 T 0.24 -0.209 2.989 -5.93 -1.942 -0.128 15.475 -0.208532 NA 0.48 0.965233 0.737631 NA 0.754 NA 6.4685004 1013 1 48713206 48713206 T C exonic SLC5A9 NA synonymous SNV SLC5A9:NM_001011547:exon14:c.T2037C:p.Y679Y,SLC5A9:NM_001135181:exon15:c.T2112C:p.Y704Y exonic ENSG00000117834 NA synonymous SNV ENSG00000117834:ENST00000438567:exon14:c.T2037C:p.Y679Y,ENSG00000117834:ENST00000236495:exon15:c.T2112C:p.Y704Y,ENSG00000117834:ENST00000533824:exon15:c.T2100C:p.Y700Y Score=481;Name=lod=120 NA 1p33 NA NA NA NA rs7535096 0.03 0.03 0.029 0.0283546 0.0646 0.001 0.0418 0.0106 0.0337 0.06 NA 0.04 0.01 0.0592 0.075 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.973656 NA NA 0.074651 0.021788 NA 0.007 NA 6.4682156 1013 1 59844471 59844471 G A exonic FGGY NA synonymous SNV FGGY:NM_001244714:exon3:c.G252A:p.P84P,FGGY:NM_001113411:exon5:c.G516A:p.P172P,FGGY:NM_018291:exon5:c.G516A:p.P172P exonic ENSG00000172456 NA synonymous SNV ENSG00000172456:ENST00000371212:exon3:c.G252A:p.P84P,ENSG00000172456:ENST00000303721:exon5:c.G516A:p.P172P,ENSG00000172456:ENST00000371218:exon5:c.G516A:p.P172P,ENSG00000172456:ENST00000413489:exon5:c.G516A:p.P172P,ENSG00000172456:ENST00000430447:exon6:c.G516A:p.P172P Score=648;Name=lod=575 NA 1p32.1 Score=949;Name=V$LYF1_01 NA NA NA rs835435 0.49 0.49 0.509 0.493211 0.3996 0.4266 0.4078 0.6785 0.4683 0.42 0.44 0.41 0.69 0.4233 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.455161 NA NA 0.377297 0.626645 NA 0.558 NA 6.4664696 1013 6 47646842 47646842 A G exonic GPR111 NA nonsynonymous SNV GPR111:NM_153839:exon5:c.A239G:p.Q80R exonic ENSG00000164393 NA nonsynonymous SNV ENSG00000164393:ENST00000398742:exon3:c.A239G:p.Q80R,ENSG00000164393:ENST00000296862:exon4:c.A443G:p.Q148R,ENSG00000164393:ENST00000507065:exon4:c.A239G:p.Q80R,ENSG00000164393:ENST00000467205:exon5:c.A239G:p.Q80R NA NA 6p12.3 Score=727;Name=V$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 1013 11 124744005 124744005 C T exonic ROBO3 NA synonymous SNV ROBO3:NM_022370:exon12:c.C1824T:p.G608G exonic ENSG00000154134 NA synonymous SNV ENSG00000154134:ENST00000538940:exon11:c.C1758T:p.G586G,ENSG00000154134:ENST00000397801:exon12:c.C1824T:p.G608G NA NA 11q24.2 Score=962;Name=V$GATA1_01 NA NA NA rs77513537 0.05 0.05 0.043 0.0613019 0.0706 0.0198 0.0346 0.031 0.1544 0.07 0.03 0.04 0.04 0.068 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 0.143163 NA NA 0.062134 0.033749 ID=COSM1317361,COSM1317362;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.043 NA 6.4659326 1013 11 68174122 68174122 G A exonic LRP5 NA synonymous SNV LRP5:NM_002335:exon9:c.G1932A:p.E644E exonic ENSG00000162337 NA synonymous SNV ENSG00000162337:ENST00000294304:exon9:c.G1932A:p.E644E Score=616;Name=lod=424 NA 11q13.2 NA NA NA NA rs2277268 0.06 0.06 0.052 0.0559105 0.0716 0.0575 0.0504 0.0651 0.0297 0.06 0.04 0.06 0.05 0.0598 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 1.0923 NA NA 0.069399 0.069773 NA 0.087 NA 6.4658676 1013 6 117114403 117114403 G A exonic GPRC6A NA synonymous SNV GPRC6A:NM_148963:exon6:c.C1683T:p.H561H exonic ENSG00000173612 NA synonymous SNV ENSG00000173612:ENST00000368549:exon5:c.C1470T:p.H490H,ENSG00000173612:ENST00000310357:exon6:c.C1683T:p.H561H,ENSG00000173612:ENST00000530250:exon6:c.C1158T:p.H386H Score=440;Name=lod=82 NA 6q22.1 NA Name=STAT3 Name=13 NA rs6901971 0.68 0.68 0.687 0.6873 0.7296 0.5536 0.7767 0.7663 0.6115 0.72 0.54 0.77 0.74 0.7227 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 -1.422699 NA NA 0.748721 0.766924 NA 0.696 NA 6.4656456 1013 6 151914265 151914265 T C exonic CCDC170 NA synonymous SNV CCDC170:NM_025059:exon8:c.T1317C:p.L439L exonic ENSG00000120262 NA synonymous SNV ENSG00000120262:ENST00000239374:exon8:c.T1317C:p.L439L,ENSG00000120262:ENST00000367290:exon8:c.T1317C:p.L439L Score=535;Name=lod=200 NA 6q25.1 NA NA NA NA rs17081470 0.08 0.08 0.084 0.096246 0.0527 0.0794 0.0447 0.1581 0.1115 0.05 0.07 0.04 0.15 0.0784 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.374631 1.374631 NA 0.070352 0.158824 NA 0.065 NA 6.4652146 1014 1 44071221 44071221 G A exonic PTPRF NA synonymous SNV PTPRF:NM_130440:exon18:c.G3384A:p.V1128V,PTPRF:NM_002840:exon19:c.G3411A:p.V1137V exonic ENSG00000142949 NA synonymous SNV ENSG00000142949:ENST00000372407:exon6:c.G594A:p.V198V,ENSG00000142949:ENST00000422171:exon9:c.G1455A:p.V485V,ENSG00000142949:ENST00000372413:exon16:c.G3384A:p.V1128V,ENSG00000142949:ENST00000372414:exon17:c.G3411A:p.V1137V,ENSG00000142949:ENST00000438120:exon18:c.G3384A:p.V1128V,ENSG00000142949:ENST00000359947:exon19:c.G3411A:p.V1137V Score=428;Name=lod=73 NA 1p34.2 Score=859;Name=V$SOX9_B1 NA NA NA rs631248 0.65 0.65 0.628 0.602436 0.7376 0.7579 0.5418 0.4297 0.5798 0.75 0.74 0.62 0.41 0.6949 0.77 . . . . . . . . 0.000 P . . . . -1.004 T 0.000 T . 1.127 9.594 0.259 0.169 0.308 8.282 1.126943 NA NA 0.769419 0.472991 NA 0.645 NA 6.4647476 1014 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 1014 15 86124483 86124483 C G exonic AKAP13 NA nonsynonymous SNV AKAP13:NM_006738:exon7:c.C3184G:p.P1062A,AKAP13:NM_007200:exon7:c.C3184G:p.P1062A exonic ENSG00000170776 NA nonsynonymous SNV ENSG00000170776:ENST00000361243:exon7:c.C3184G:p.P1062A,ENSG00000170776:ENST00000394518:exon7:c.C3184G:p.P1062A,ENSG00000170776:ENST00000559362:exon7:c.C3184G:p.P1062A NA NA 15q25.3 NA Name=EBF1_(C-8),Pol2 NA NA rs4843074 0.58 0.58 0.586 0.581869 0.6153 0.5784 0.6182 0.5469 0.5726 0.61 0.58 0.61 0.53 0.6103 0.64 0.26 T 0.356 B 0.164 B . . 0.991 P 0.55 N 2.4 T -0.995 T 0.000 T 0.191 1.546 11.12 -0.872 -0.005 -0.511 0.559 1.546134 1.546134 0 0.643522 0.591508 NA 0.572 NA 6.4642114 1014 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 1014 16 2222286 2222286 C T exonic TRAF7 NA synonymous SNV TRAF7:NM_032271:exon8:c.C570T:p.H190H exonic ENSG00000131653 NA synonymous SNV ENSG00000131653:ENST00000326181:exon8:c.C570T:p.H190H Score=511;Name=lod=159 NA 16p13.3 NA NA NA NA rs11547311 0.04 0.04 0.029 0.0303514 0.0795 NA 0.0663 0.0038 0.0215 0.08 NA 0.07 0.002 0.0471 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 0.900223 NA NA 0.076646 0.015483 NA 0.109 NA 6.4634206 1014 15 86123019 86123019 C T exonic AKAP13 NA nonsynonymous SNV AKAP13:NM_006738:exon7:c.C1720T:p.R574C,AKAP13:NM_007200:exon7:c.C1720T:p.R574C exonic ENSG00000170776 NA nonsynonymous SNV ENSG00000170776:ENST00000361243:exon7:c.C1720T:p.R574C,ENSG00000170776:ENST00000394518:exon7:c.C1720T:p.R574C,ENSG00000170776:ENST00000559362:exon7:c.C1720T:p.R574C NA NA 15q25.3 NA NA NA NA rs2061824 0.59 0.59 0.589 0.583067 0.6153 0.5784 0.6182 0.5507 0.5736 0.61 0.58 0.61 0.53 0.6107 0.64 0.36 T 0.0 B 0.0 B . . 1.000 P -0.895 N 2.8 T -0.945 T 0.000 T 0.371 0.943 8.845 -6.59 -0.658 -0.839 1.166 0.943177 NA 0 0.643987 0.593097 NA 0.565 NA 6.4633464 1014 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 1014 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 1014 8 10465771 10465771 G T exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.C5837A:p.A1946E exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.C5837A:p.A1946E NA NA 8p23.1 NA NA NA NA rs11785822 0.94 0.94 0.935 0.919728 0.9632 0.998 0.9697 0.8139 0.9018 0.97 1 0.98 0.82 0.9494 1 1 T 0.0 B 0.0 B . . 1.000 P 0 N 2.63 T -0.977 T 0.000 T 0.054 -1.718 0.011 -2.34 -1.934 -0.593 5.840 -1.718371 NA 1 0.958373 0.854268 NA 0.928 NA 6.4623604 1014 17 79663880 79663880 T C exonic HGS NA synonymous SNV HGS:NM_004712:exon18:c.T1734C:p.G578G exonic ENSG00000185359 NA synonymous SNV ENSG00000185359:ENST00000571237:exon8:c.T741C:p.G247G,ENSG00000185359:ENST00000329138:exon18:c.T1734C:p.G578G NA NA 17q25.3 NA Name=Pol2 NA NA rs12951171 0.11 0.11 0.115 0.104034 0.0716 0.2232 0.0461 0.0809 0.0869 0.07 0.22 0.04 0.08 0.0725 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493228 NA NA 0.060479 0.073376 NA 0.13 NA 6.4620876 1014 5 21760731 21760731 T C exonic CDH12 NA synonymous SNV CDH12:NM_004061:exon13:c.A1569G:p.Q523Q exonic ENSG00000154162 NA synonymous SNV ENSG00000154162:ENST00000522262:exon10:c.A1449G:p.Q483Q,ENSG00000154162:ENST00000504376:exon12:c.A1569G:p.Q523Q,ENSG00000154162:ENST00000382254:exon13:c.A1569G:p.Q523Q Score=648;Name=lod=576 NA 5p14.3 NA NA NA NA rs2303749 0.05 0.05 0.04 0.0591054 0.0606 0.0169 0.1225 0.0227 0.1053 0.06 0.03 0.1 0.03 0.078 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 1.109977 NA NA 0.066744 0.032683 NA 0.043 NA 6.4613226 1014 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=Pbx3,GATA-1,BCLAF1_(M33-P5B11),HEY1,ELF1_(SC-631),ETS1,NELFe,Pol2-4H8,eGFP-JunB,ZEB1_(SC-25388),RFX5_(N-494),TAF1,c-Jun,IRF4_(M-17),NFKB,BCL3,E2F6,POU2F2,MafK_(ab50322),p300,TCF12,TAF7_(SQ-8),USF1_(SC-8983),HA-E2F1,CHD2_(N-1250),Pol2,FOXA1_(C-20),USF-1,Pol2(phosphoS2),JunD,SIRT6,ZNF263,GTF2F1_(RAP-74),YY1,ELK4,Pol2(b),CCNT2,TBP,Egr-1,TR4,ERalpha_a,STAT3,Mxi1_(bHLH),NRSF,FOSL1_(SC-183),GATA3_(SC-268),Sin3Ak-20,RXRA,E2F4,Oct-2,p300_(N-15),Max,TCF4,FOXA2_(SC-6554),ZBTB33,YY1_(C-20) 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 1014 17 79662067 79662067 A G exonic HGS NA synonymous SNV HGS:NM_004712:exon13:c.A1089G:p.E363E exonic ENSG00000185359 NA synonymous SNV ENSG00000185359:ENST00000571237:exon3:c.A249G:p.E83E,ENSG00000185359:ENST00000329138:exon13:c.A1089G:p.E363E Score=284;Name=lod=19 NA 17q25.3 NA NA NA NA rs34384005 0.12 0.12 0.109 0.113618 0.0716 0.2232 0.049 0.1172 0.0849 0.07 0.22 0.04 0.12 0.0746 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.720538 NA NA 0.059781 0.099637 NA 0.152 NA 6.4606856 1014 4 7857230 7857230 C T exonic AFAP1 NA synonymous SNV AFAP1:NM_001134647:exon4:c.G297A:p.P99P,AFAP1:NM_198595:exon4:c.G297A:p.P99P exonic ENSG00000196526 NA synonymous SNV ENSG00000196526:ENST00000360265:exon3:c.G297A:p.P99P,ENSG00000196526:ENST00000382543:exon3:c.G297A:p.P99P,ENSG00000196526:ENST00000358461:exon4:c.G297A:p.P99P,ENSG00000196526:ENST00000420658:exon4:c.G297A:p.P99P Score=397;Name=lod=55 NA 4p16.1 Score=806;Name=V$ARP1_01 NA NA NA rs61742221 0.23 0.23 0.209 0.178115 0.4443 0.0645 0.2464 0.0477 0.1493 0.44 0.06 0.3 0.05 0.3248 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.371194 1.371194 NA 0.437209 0.100091 NA 0.239 NA 6.4603576 1014 X 23398214 23398214 T C exonic PTCHD1 NA synonymous SNV PTCHD1:NM_173495:exon2:c.T858C:p.C286C exonic ENSG00000165186 NA synonymous SNV ENSG00000165186:ENST00000379361:exon2:c.T858C:p.C286C Score=638;Name=lod=523 NA Xp22.11 NA NA NA NA rs5926304 0.65 0.65 0.65262 NA NA NA NA NA NA 0.59 0.58 0.59 0.89 0.5943 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 1.06045 NA NA 0.612069 0.873794 NA 0.551 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082701.3;CLNDSDB=.;CLNDSDBID=. 6.4602976 1014 6 16328068 16328068 T C exonic ATXN1 NA synonymous SNV ATXN1:NM_001128164:exon7:c.A474G:p.A158A,ATXN1:NM_000332:exon8:c.A474G:p.A158A exonic ENSG00000124788 NA synonymous SNV ENSG00000124788:ENST00000436367:exon7:c.A474G:p.A158A,ENSG00000124788:ENST00000244769:exon8:c.A474G:p.A158A NA NA 6p22.3 NA NA NA NA rs2072736 0.21 0.21 0.185 0.218251 0.0447 0.374 0.1801 0.2882 0.1687 0.04 0.37 0.15 0.31 0.1172 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.674596 NA NA 0.044618 0.225182 NA 0.167 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116470.2;CLNDSDB=.;CLNDSDBID=. 6.4601486 1014 20 48140682 48140682 C T exonic PTGIS NA synonymous SNV PTGIS:NM_000961:exon6:c.G768A:p.L256L exonic ENSG00000124212 NA synonymous SNV ENSG00000124212:ENST00000244043:exon6:c.G768A:p.L256L Score=480;Name=lod=119 NA 20q13.13 NA NA NA NA rs5628 0.1 0.1 0.102 0.123802 0.0646 0.1002 0.121 0.2027 0.1043 0.06 0.08 0.12 0.19 0.0812 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.274634 NA NA 0.061047 0.154108 ID=COSM149196;OCCURENCE=1(stomach) 0.13 NA 6.4598196 1014 16 19548740 19548740 A G exonic CCP110 NA synonymous SNV CCP110:NM_001199022:exon4:c.A1749G:p.K583K,CCP110:NM_014711:exon5:c.A1749G:p.K583K exonic ENSG00000103540 NA synonymous SNV ENSG00000103540:ENST00000381396:exon4:c.A1749G:p.K583K,ENSG00000103540:ENST00000396208:exon4:c.A1749G:p.K583K,ENSG00000103540:ENST00000396212:exon5:c.A1749G:p.K583K Score=519;Name=lod=172 NA 16p12.3 NA NA NA NA rs17227190 0.08 0.08 0.059 0.0722843 0.0577 0.1458 0.1153 0.0023 0.0757 0.06 0.13 0.1 0.002 0.0793 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.59812 NA NA 0.070116 0.018889 NA 0.036 NA 6.4595506 1014 19 7796587 7796587 T G exonic CLEC4G NA synonymous SNV CLEC4G:NM_001244856:exon2:c.A90C:p.T30T,CLEC4G:NM_198492:exon2:c.A126C:p.T42T exonic ENSG00000182566 NA synonymous SNV ENSG00000182566:ENST00000328853:exon2:c.A126C:p.T42T,ENSG00000182566:ENST00000599020:exon4:c.A252C:p.T84T NA NA 19p13.2 Score=738;Name=V$SEF1_C NA NA NA rs117034642 0.03 0.03 0.033 0.0227636 0.0765 NA 0.0202 0.0023 0.0204 0.08 NA 0.03 0.002 0.0539 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 0.274886 NA NA 0.076977 0.013618 ID=COSM1179779;OCCURENCE=1(prostate) 0.072 NA 6.4592896 1014 9 119065043 119065043 C T exonic PAPPA NA synonymous SNV PAPPA:NM_002581:exon10:c.C2961T:p.P987P exonic ENSG00000182752 NA synonymous SNV ENSG00000182752:ENST00000534838:exon4:c.C75T:p.P25P,ENSG00000182752:ENST00000328252:exon10:c.C2961T:p.P987P Score=652;Name=lod=594 NA 9q33.1 NA NA NA NA rs35565319 0.04 0.04 0.036 0.0319489 0.0755 0.0179 0.0245 0.0061 0.0419 0.08 0.01 0.03 0.01 0.0624 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 1.118452 NA NA 0.069535 0.013618 NA 0.022 NA 6.4592316 1014 15 89858602 89858602 T C exonic FANCI NA synonymous SNV FANCI:NM_018193:exon36:c.T3726C:p.G1242G,FANCI:NM_001113378:exon37:c.T3906C:p.G1302G exonic ENSG00000140525 NA synonymous SNV ENSG00000140525:ENST00000300027:exon36:c.T3726C:p.G1242G,ENSG00000140525:ENST00000310775:exon37:c.T3906C:p.G1302G NA NA 15q26.1 NA Name=TCF4 Name=3 NA rs1138465 0.43 0.43 0.417 0.41234 0.3996 0.4256 0.3934 0.4667 0.3517 0.42 0.43 0.41 0.46 0.4123 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202814 NA NA 0.395906 0.436364 NA 0.428 NA 6.4588606 1014 10 11504752 11504752 T C exonic USP6NL NA synonymous SNV USP6NL:NM_001080491:exon14:c.A2226G:p.P742P,USP6NL:NM_014688:exon15:c.A2175G:p.P725P exonic ENSG00000148429 NA synonymous SNV ENSG00000148429:ENST00000277575:exon14:c.A2226G:p.P742P,ENSG00000148429:ENST00000379237:exon15:c.A2175G:p.P725P Score=492;Name=lod=133 NA 10p14 NA NA NA NA rs12570211 0.08 0.08 0.068 0.0994409 0.0656 0.1319 0.062 0.0234 0.2301 0.05 0.15 0.07 0.02 0.0801 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.8619 NA NA 0.06247 0.024961 NA 0.029 NA 6.4584966 1014 21 42622786 42622786 C T exonic BACE2 NA synonymous SNV BACE2:NM_012105:exon7:c.C1092T:p.D364D,BACE2:NM_138992:exon7:c.C1092T:p.D364D exonic ENSG00000182240 NA synonymous SNV ENSG00000182240:ENST00000328735:exon7:c.C1092T:p.D364D,ENSG00000182240:ENST00000330333:exon7:c.C1092T:p.D364D NA NA 21q22.3 NA Name=GATA-2 Name=70 NA rs1046210 0.41 0.41 0.381 0.41893 0.3797 0.6865 0.5403 0.0764 0.5603 0.37 0.67 0.5 0.1 0.439 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 -0.186865 NA NA 0.389651 0.128915 NA 0.355 NA 6.4583156 1014 4 23815522 23815522 C T exonic PPARGC1A NA synonymous SNV PPARGC1A:NM_013261:exon8:c.G1584A:p.T528T exonic ENSG00000109819 NA synonymous SNV ENSG00000109819:ENST00000264867:exon8:c.G1584A:p.T528T Score=736;Name=lod=1310 NA 4p15.2 Score=888;Name=V$AHRARNT_02 NA NA NA rs3755863 0.37 0.37 0.379 0.352236 0.4284 0.4454 0.3343 0.239 0.3436 0.42 0.45 0.31 0.25 0.372 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062655 NA NA 0.408372 0.238765 ID=COSM1429208;OCCURENCE=1(large_intestine) 0.5 NA 6.4578946 1014 17 8224276 8224276 T C exonic ARHGEF15 NA nonsynonymous SNV ARHGEF15:NM_025014:exon16:c.T2491C:p.S831P,ARHGEF15:NM_173728:exon16:c.T2491C:p.S831P exonic ENSG00000198844 NA nonsynonymous SNV ENSG00000198844:ENST00000421050:exon15:c.T2491C:p.S831P,ENSG00000198844:ENST00000361926:exon16:c.T2491C:p.S831P NA NA 17p13.1 NA NA NA NA rs3744647 0.61 0.61 0.605 0.577875 0.6342 0.4256 0.6988 0.6649 0.4734 0.64 0.48 0.68 0.65 0.6114 0.68 0.36 T 0.0 B 0.0 B 0.341 N 1.000 P -0.55 N -0.4 T -0.939 T 0.000 T 0.101 -2.193 0.005 0.487 -0.060 -1.059 6.930 -2.192952 NA 0.44 0.63093 0.666591 NA 0.623 NA 6.4568034 1014 5 150891733 150891733 A G exonic FAT2 NA synonymous SNV FAT2:NM_001447:exon20:c.T11898C:p.H3966H exonic ENSG00000086570 NA synonymous SNV ENSG00000086570:ENST00000261800:exon20:c.T11898C:p.H3966H NA NA 5q33.1 NA NA NA NA rs2304028 0.79 0.79 0.777 0.799521 0.7197 0.9494 0.8026 0.6846 0.8804 0.72 0.95 0.79 0.69 0.7717 0.95 . . . . . . . . 1.000 P . . . . -1.070 T 0.000 T . -1.808 0.009 -10.2 -4.887 -3.163 8.217 -1.808313 NA NA 0.718488 0.687018 NA 0.768 NA 6.4567786 1014 3 121435621 121435621 T C exonic GOLGB1 NA synonymous SNV GOLGB1:NM_001256488:exon8:c.A1011G:p.Q337Q,GOLGB1:NM_001256486:exon9:c.A1251G:p.Q417Q,GOLGB1:NM_001256487:exon9:c.A1134G:p.Q378Q,GOLGB1:NM_004487:exon9:c.A1236G:p.Q412Q exonic ENSG00000173230 NA synonymous SNV ENSG00000173230:ENST00000494517:exon8:c.A1128G:p.Q376Q,ENSG00000173230:ENST00000340645:exon9:c.A1236G:p.Q412Q,ENSG00000173230:ENST00000393667:exon9:c.A1251G:p.Q417Q Score=259;Name=lod=15 NA 3q13.33 NA NA NA NA rs9832267 0.7 0.7 0.694 0.653155 0.7515 0.8542 0.4769 0.5703 0.5818 0.75 0.87 0.51 0.55 0.699 0.87 . . . . . . . . 0.000 P . . . . -1.037 T 0.000 T . -1.18 0.083 3.1 0.122 -0.199 7.828 -1.180132 NA NA 0.760349 0.608715 NA 0.688 NA 6.4558176 1014 3 44607013 44607013 T C exonic ZKSCAN7 NA nonsynonymous SNV ZKSCAN7:NM_018651:exon3:c.T458C:p.F153S,ZKSCAN7:NM_025169:exon3:c.T458C:p.F153S exonic ENSG00000196345 NA nonsynonymous SNV ENSG00000196345:ENST00000447279:exon2:c.T8C:p.F3S,ENSG00000196345:ENST00000273320:exon3:c.T458C:p.F153S,ENSG00000196345:ENST00000341840:exon3:c.T458C:p.F153S,ENSG00000196345:ENST00000418719:exon3:c.T458C:p.F153S,ENSG00000196345:ENST00000426540:exon3:c.T458C:p.F153S,ENSG00000196345:ENST00000431636:exon3:c.T458C:p.F153S NA NA 3p21.31 NA NA NA NA rs13081859 0.2 0.2 0.214 0.178115 0.3191 0.001 0.1556 0.3048 0.0603 0.3 0.0017 0.16 0.32 0.2464 0.32 0.74 T 0.0 B 0.0 B 0.677 N 1.000 P 0 N 4.69 T -0.912 T 0.000 T 0.037 -0.767 0.768 0.533 0.346 -0.052 3.380 -0.766811 NA 0.05 0.312093 0.31616 NA 0.21 NA 6.4557404 1014 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 1014 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 1014 3 121435624 121435624 C T exonic GOLGB1 NA synonymous SNV GOLGB1:NM_001256488:exon8:c.G1008A:p.E336E,GOLGB1:NM_001256486:exon9:c.G1248A:p.E416E,GOLGB1:NM_001256487:exon9:c.G1131A:p.E377E,GOLGB1:NM_004487:exon9:c.G1233A:p.E411E exonic ENSG00000173230 NA synonymous SNV ENSG00000173230:ENST00000494517:exon8:c.G1125A:p.E375E,ENSG00000173230:ENST00000340645:exon9:c.G1233A:p.E411E,ENSG00000173230:ENST00000393667:exon9:c.G1248A:p.E416E NA NA 3q13.33 NA NA NA NA rs9812411 0.7 0.7 0.7 0.653754 0.7515 0.8542 0.4769 0.5726 0.5818 0.75 0.87 0.51 0.56 0.6995 0.87 . . . . . . . . 0.000 P . . . . -1.055 T 0.000 T . -1.233 0.057 -6.79 -1.068 -0.696 10.873 -1.233301 NA NA 0.760581 0.614389 NA 0.688 NA 6.4550856 1014 10 90537942 90537942 C T exonic LIPN NA synonymous SNV LIPN:NM_001102469:exon9:c.C1140T:p.L380L exonic ENSG00000204020 NA synonymous SNV ENSG00000204020:ENST00000404459:exon9:c.C1140T:p.L380L NA NA 10q23.31 Score=816;Name=V$PPARG_03 NA NA NA rs11202851 0.11 0.11 0.094 0.125599 0.0547 0.2679 0.1455 0.0038 0.2025 0.05 0.28 0.13 0.0041 0.0973 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294046 NA NA 0.059634 0.016241 NA 0.051 NA 6.4550326 1014 1 19595137 19595137 C T ncRNA_exonic AKR7L NA NA NA exonic ENSG00000211454 NA nonsynonymous SNV ENSG00000211454:ENST00000420396:exon4:c.G229A:p.A77T NA NA 1p36.13 Score=802;Name=V$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 1015 11 5776623 5776623 A T exonic OR52N4 NA nonsynonymous SNV OR52N4:NM_001005175:exon1:c.A653T:p.N218I exonic ENSG00000181074 NA nonsynonymous SNV ENSG00000181074:ENST00000317254:exon1:c.A653T:p.N218I NA NA 11p15.4 NA NA NA NA rs7396938 0.91 0.91 0.908 0.895767 0.9702 0.9067 0.8703 0.7874 0.9724 0.97 0.92 0.9 0.81 0.9371 0.97 0.57 T 0.0 B 0.0 B 0.915 N 1.000 P -2.39 N 1.46 T -0.960 T 0.000 T 0.128 -1.902 0.008 3.8 0.188 2.624 1.492 -1.902232 NA 0.57 0.971385 0.822506 NA 0.906 NA 6.4546484 1015 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 1015 15 42734320 42734320 C T exonic ZNF106 NA synonymous SNV ZNF106:NM_022473:exon7:c.G3645A:p.V1215V exonic ENSG00000103994 NA synonymous SNV ENSG00000103994:ENST00000567772:exon4:c.G519A:p.V173V,ENSG00000103994:ENST00000565611:exon6:c.G1200A:p.V400V,ENSG00000103994:ENST00000263805:exon7:c.G3645A:p.V1215V,ENSG00000103994:ENST00000565380:exon8:c.G1329A:p.V443V Score=358;Name=lod=38 NA 15q15.1 NA NA NA NA rs61753567 0.04 0.04 0.03 0.0489217 0.0716 0.001 0.0533 0.0045 0.1319 0.07 0.0017 0.06 0.002 0.0719 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 0.340997 NA NA 0.070249 0.016795 NA 0.022 NA 6.4529176 1015 9 133760029 133760029 C G exonic ABL1 NA synonymous SNV ABL1:NM_005157:exon11:c.C2352G:p.P784P,ABL1:NM_007313:exon11:c.C2409G:p.P803P exonic ENSG00000097007 NA synonymous SNV ENSG00000097007:ENST00000318560:exon11:c.C2352G:p.P784P,ENSG00000097007:ENST00000372348:exon11:c.C2409G:p.P803P Score=407;Name=lod=60 NA 9q34.12 NA NA NA NA rs2229070 0.1 0.1 0.115 0.106629 0.0696 0.001 0.0865 0.2821 0.0307 0.08 0.0017 0.09 0.27 0.0719 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302295 NA NA 0.072342 0.223864 NA 0.13 NA 6.4528246 1015 19 7584223 7584223 A G exonic ZNF358 NA nonsynonymous SNV ZNF358:NM_018083:exon2:c.A95G:p.N32S exonic ENSG00000198816 NA nonsynonymous SNV ENSG00000198816:ENST00000394341:exon1:c.A95G:p.N32S,ENSG00000198816:ENST00000596712:exon2:c.A95G:p.N32S,ENSG00000198816:ENST00000597229:exon2:c.A95G:p.N32S NA NA 19p13.2 NA NA NA NA rs11555037 0.2 0.2 0.181 0.195487 0.326 0.1042 0.1772 0.1044 0.2914 0.33 0.09 0.2 0.13 0.2544 0.33 0.72 T 0.001 B 0.001 B . . 1.000 P 0 N 3.41 T -0.920 T 0.000 T 0.017 -1.982 0.007 0.314 0.078 0.385 7.971 -1.982298 NA 0.88 0.300117 0.119461 NA 0.203 NA 6.4528164 1015 12 49333799 49333799 G A exonic ARF3 NA synonymous SNV ARF3:NM_001659:exon3:c.C240T:p.H80H exonic ENSG00000134287 NA synonymous SNV ENSG00000134287:ENST00000256682:exon3:c.C240T:p.H80H,ENSG00000134287:ENST00000398092:exon3:c.C240T:p.H80H,ENSG00000134287:ENST00000541236:exon3:c.C240T:p.H80H,ENSG00000134287:ENST00000541959:exon4:c.C240T:p.H80H Score=678;Name=lod=762 NA 12q13.12 NA NA NA NA rs2228417 0.03 0.03 0.03 0.061901 0.0696 0.004 0.0288 0.0098 0.2076 0.07 0.01 0.04 0.02 0.074 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 0.352679 NA NA 0.071395 0.011802 NA 0.029 NA 6.4516716 1015 19 57802911 57802911 G A exonic ZNF460 NA synonymous SNV ZNF460:NM_006635:exon3:c.G1002A:p.R334R exonic ENSG00000197714 NA synonymous SNV ENSG00000197714:ENST00000360338:exon3:c.G1002A:p.R334R,ENSG00000197714:ENST00000537645:exon3:c.G879A:p.R293R Score=358;Name=lod=38 NA 19q13.43 NA NA NA NA rs36032958 0.04 0.04 0.044 0.0283546 0.0875 NA 0.049 0.0023 0.0174 0.08 NA 0.05 0.0041 0.0528 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 0.786364 NA NA 0.074767 0.014526 NA 0.029 NA 6.4515996 1015 4 153690842 153690842 T C exonic TIGD4 NA nonsynonymous SNV TIGD4:NM_145720:exon2:c.A1315G:p.I439V exonic ENSG00000169989 NA nonsynonymous SNV ENSG00000169989:ENST00000304337:exon2:c.A1315G:p.I439V NA NA 4q31.3 NA NA NA NA rs4696354 0.67 0.67 0.655 0.694888 0.6074 0.6974 0.7522 0.6884 0.7505 0.6 0.72 0.73 0.69 0.6606 0.73 0.56 T 0.0 B 0.0 B 0.854 N 1.000 P -0.55 N 2.65 T -0.986 T 0.000 T 0.011 -3.381 0.001 3.1 0.904 -0.332 0.734 -3.380698 NA 1 0.614535 0.667045 ID=COSM1131225;OCCURENCE=1(prostate) 0.703 NA 6.4507984 1015 11 5809308 5809308 A T exonic OR52N1 NA nonsynonymous SNV OR52N1:NM_001001913:exon1:c.T739A:p.F247I exonic ENSG00000181001 NA nonsynonymous SNV ENSG00000181001:ENST00000317078:exon1:c.T739A:p.F247I Score=472;Name=lod=111 NA 11p15.4 NA NA NA NA rs7934670 0.93 0.93 0.918 0.923922 0.9712 0.9067 0.8804 0.885 0.9765 0.97 0.91 0.91 0.88 0.9456 0.97 0.95 T 0.0 B 0.0 B 0.001 N 0.000 P -2.3 N 1.44 T -0.974 T 0.000 T 0.053 -0.425 2.021 3.5 0.927 -0.195 2.59 -0.424724 NA 1 0.966713 0.885961 NA 0.928 NA 6.4498204 1015 22 50480108 50480108 C T intergenic IL17REL,MLC1 dist=29053;dist=17712 NA NA exonic ENSG00000138892 NA nonsynonymous SNV ENSG00000138892:ENST00000266182:exon7:c.G772A:p.E258K,ENSG00000138892:ENST00000440475:exon7:c.G772A:p.E258K,ENSG00000138892:ENST00000433387:exon8:c.G880A:p.E294K NA NA 22q13.33 NA NA NA NA rs9628315 0.42 0.42 0.445 0.402356 0.4563 0.3859 0.2911 0.4455 0.3845 0.46 0.38 0.33 0.46 0.4476 0.48 0.89 T 0.005 B 0.006 B 0.392 N 1.000 P -0.295 N 3.71 T -0.964 T 0.000 T 0.442 0.286 5.548 -3.47 -0.368 -1.471 7.486 0.286078 NA 0.77 0.479822 0.432476 NA 0.471 NA 6.4496114 1015 2 209353800 209353800 A G exonic PTH2R NA synonymous SNV PTH2R:NM_005048:exon11:c.A1140G:p.V380V exonic ENSG00000144407 NA synonymous SNV ENSG00000144407:ENST00000272847:exon11:c.A1140G:p.V380V Score=493;Name=lod=134 NA 2q34 NA NA NA NA rs16841294 0.11 0.11 0.102 0.128195 0.0636 0.0069 0.0865 0.3495 0.0501 0.05 0.0017 0.09 0.32 0.0841 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.529136 1.529136 NA 0.070698 0.333182 NA 0.087 NA 6.4482686 1015 15 101718700 101718700 G A exonic CHSY1 NA synonymous SNV CHSY1:NM_014918:exon3:c.C1302T:p.Y434Y exonic ENSG00000131873 NA synonymous SNV ENSG00000131873:ENST00000254190:exon3:c.C1302T:p.Y434Y NA NA 15q26.3 NA NA Name=2 NA rs2005180 0.04 0.04 0.039 0.0409345 0.0795 0.0188 0.0317 0.0129 0.0685 0.09 0.01 0.04 0.01 0.0615 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 -0.087113 NA NA 0.078256 0.020654 NA 0.036 NA 6.4474106 1015 11 60666341 60666341 G A exonic PRPF19 NA synonymous SNV PRPF19:NM_014502:exon12:c.C1047T:p.S349S exonic ENSG00000110107 NA synonymous SNV ENSG00000110107:ENST00000535326:exon1:c.C63T:p.S21S,ENSG00000110107:ENST00000227524:exon12:c.C1047T:p.S349S Score=505;Name=lod=150 NA 11q12.2 Score=869;Name=V$ELK1_02 NA NA NA rs3763840 0.32 0.32 0.316 0.308506 0.3887 0.3194 0.3905 0.1422 0.3814 0.39 0.33 0.4 0.16 0.4315 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.825696 NA NA 0.39986 0.183386 NA 0.355 NA 6.4466066 1015 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 1015 3 52852538 52852538 G T exonic ITIH4 NA nonsynonymous SNV ITIH4:NM_001166449:exon16:c.C2002A:p.P668T,ITIH4:NM_002218:exon18:c.C2092A:p.P698T exonic ENSG00000055955 NA nonsynonymous SNV ENSG00000055955:ENST00000346281:exon16:c.C2002A:p.P668T,ENSG00000055955:ENST00000406595:exon16:c.C2002A:p.P668T,ENSG00000055955:ENST00000266041:exon18:c.C2092A:p.P698T,ENSG00000055955:ENST00000485816:exon18:c.C2107A:p.P703T NA NA 3p21.1 NA NA NA NA rs4687657 0.31 0.31 0.288 0.257788 0.3022 0.3155 0.3919 0.1997 0.136 0.3 0.37 0.4 0.17 0.3187 0.4 0.45 T 0.014 B 0.009 B 0.000 N 1.000 P 1.735 L 4.91 T -0.954 T 0.000 T 0.165 0.661 7.544 1.62 0.447 -0.314 4.156 0.661216 NA 0.02 0.266232 0.219219 NA 0.159 NA 6.4462014 1015 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 1015 1 204399064 204399064 G A exonic PIK3C2B NA synonymous SNV PIK3C2B:NM_002646:exon30:c.C4383T:p.P1461P exonic ENSG00000133056 NA synonymous SNV ENSG00000133056:ENST00000367187:exon30:c.C4383T:p.P1461P,ENSG00000133056:ENST00000424712:exon31:c.C4299T:p.P1433P Score=309;Name=lod=24 NA 1q32.1 NA NA NA NA rs2271420 0.14 0.14 0.017 0.13778 0.1113 0.0774 0.1037 0.2784 0.0613 0.1 0.09 0.12 0.29 0.1055 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.364845 1.364845 NA 0.003837 0.026555 NA 0.188 NA 6.4460296 1015 1 204399061 204399061 A G exonic PIK3C2B NA synonymous SNV PIK3C2B:NM_002646:exon30:c.T4386C:p.P1462P exonic ENSG00000133056 NA synonymous SNV ENSG00000133056:ENST00000367187:exon30:c.T4386C:p.P1462P,ENSG00000133056:ENST00000424712:exon31:c.T4302C:p.P1434P NA NA 1q32.1 Score=878;Name=V$ATF6_01 NA NA NA rs2271419 0.14 0.14 0.015 0.13778 0.1113 0.0774 0.1037 0.2784 0.0613 0.1 0.09 0.12 0.29 0.1054 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.816051 NA NA 0.003953 0.029505 NA 0.188 NA 6.4460136 1015 8 17739538 17739538 T C exonic FGL1 NA nonsynonymous SNV FGL1:NM_004467:exon3:c.A214G:p.I72V,FGL1:NM_147203:exon3:c.A214G:p.I72V,FGL1:NM_201552:exon4:c.A214G:p.I72V,FGL1:NM_201553:exon4:c.A214G:p.I72V exonic ENSG00000104760 NA nonsynonymous SNV ENSG00000104760:ENST00000522444:exon2:c.A214G:p.I72V,ENSG00000104760:ENST00000381840:exon3:c.A214G:p.I72V,ENSG00000104760:ENST00000427924:exon3:c.A214G:p.I72V,ENSG00000104760:ENST00000518650:exon3:c.A214G:p.I72V,ENSG00000104760:ENST00000381841:exon4:c.A214G:p.I72V,ENSG00000104760:ENST00000398054:exon4:c.A214G:p.I72V,ENSG00000104760:ENST00000398056:exon5:c.A214G:p.I72V NA NA 8p22 NA NA NA NA rs3739406 0.47 0.47 0.458 0.412141 0.6521 0.4345 0.4049 0.2322 0.3906 0.67 0.46 0.4 0.22 0.5552 0.68 0.51 T 0.003 B 0.003 B 0.843 N 1.000 P 0.55 N 0.72 T -0.926 T 0.000 T 0.153 -0.326 2.45 -2.95 -0.080 0.139 3.677 -0.326486 NA 0.91 0.680349 0.311394 NA 0.399 NA 6.4456844 1015 3 150917000 150917000 T G exonic GPR171 NA synonymous SNV GPR171:NM_013308:exon3:c.A174C:p.T58T exonic ENSG00000174946 NA synonymous SNV ENSG00000174946:ENST00000309180:exon3:c.A174C:p.T58T NA NA 3q25.1 NA NA Name=2 NA rs3773614 0.1 0.1 0.096 0.118011 0.0666 0.0704 0.085 0.2194 0.1063 0.06 0.1 0.08 0.19 0.084 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856607 NA NA 0.070698 0.203586 NA 0.087 NA 6.4453686 1015 1 207646898 207646898 T C exonic CR2 NA nonsynonymous SNV CR2:NM_001006658:exon11:c.T1987C:p.S663P exonic ENSG00000117322 NA nonsynonymous SNV ENSG00000117322:ENST00000367057:exon11:c.T1987C:p.S663P NA NA 1q32.2 NA NA NA NA rs4308977 0.3 0.3 0.321 0.289537 0.2913 0.1091 0.2089 0.5356 0.1984 0.3 0.11 0.26 0.54 0.281 0.54 0.36 T 0.0 B 0.0 B . . 1.000 P -1.285 N -0.02 T -0.912 T 0.000 T 0.024 -0.738 0.854 1.19 0.087 -0.081 7.633 -0.737638 NA 0.25 0.315814 0.496596 NA 0.341 NA 6.4452194 1016 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 1016 7 51097063 51097063 T G exonic COBL NA nonsynonymous SNV COBL:NM_015198:exon10:c.A1730C:p.D577A exonic ENSG00000106078 NA nonsynonymous SNV ENSG00000106078:ENST00000431948:exon9:c.A1385C:p.D462A,ENSG00000106078:ENST00000445054:exon9:c.A1406C:p.D469A,ENSG00000106078:ENST00000265136:exon10:c.A1730C:p.D577A,ENSG00000106078:ENST00000395542:exon12:c.A1976C:p.D659A NA NA 7p12.1 NA Name=HA-E2F1 NA NA rs10230120 0.98 0.98 0.979 0.984026 0.9662 0.999 0.9524 0.9985 0.9898 0.96 1 0.98 1 0.9656 1 1 T 0.0 B 0.0 B 0.302 N 1.000 P -1.04 N 2.12 T -0.978 T 0.000 T 0.169 -0.548 1.515 3.95 0.807 0.270 12.052 -0.54833 NA 0.34 0.958023 0.992283 NA 0.993 NA 6.4435104 1016 1 22159774 22159774 G A exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon80:c.C11082T:p.P3694P exonic ENSG00000142798 NA synonymous SNV ENSG00000142798:ENST00000374695:exon80:c.C11082T:p.P3694P NA NA 1p36.12 Score=900;Name=V$ELK1_02 NA NA NA rs2229486 0.08 0.08 0.08 0.0858626 0.0676 NA 0.0519 0.1672 0.1074 0.06 NA 0.06 0.19 0.0792 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 1.247339 1.247339 NA 0.076744 0.172946 NA 0.08 NA 6.4431226 1016 4 47938879 47938879 G A exonic CNGA1 NA synonymous SNV CNGA1:NM_001142564:exon10:c.C1839T:p.F613F,CNGA1:NM_000087:exon11:c.C1632T:p.F544F exonic ENSG00000198515 NA synonymous SNV ENSG00000198515:ENST00000358519:exon9:c.C1632T:p.F544F,ENSG00000198515:ENST00000402813:exon10:c.C1839T:p.F613F,ENSG00000198515:ENST00000544810:exon10:c.C1632T:p.F544F,ENSG00000198515:ENST00000420489:exon11:c.C1632T:p.F544F,ENSG00000198515:ENST00000514170:exon11:c.C1632T:p.F544F Score=637;Name=lod=519 NA 4p12 NA NA NA NA rs17573673 0.03 0.03 0.029 0.038738 0.0736 0.005 0.0375 0.0023 0.0879 0.08 0.01 0.03 0.0041 0.0659 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 -0.064903 NA 0 0.084089 0.017069 NA 0.043 NA 6.4430776 1016 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 1016 17 60767015 60767015 G A exonic MRC2 NA nonsynonymous SNV MRC2:NM_006039:exon24:c.G3467A:p.R1156H exonic ENSG00000011028 NA nonsynonymous SNV ENSG00000011028:ENST00000303375:exon24:c.G3467A:p.R1156H Score=476;Name=lod=115 NA 17q23.2 NA NA NA NA rs2429387 0.85 0.85 0.837 0.798722 0.9791 0.9435 0.951 0.4357 0.8466 0.98 0.95 0.94 0.47 0.9291 0.98 0.58 T 0.005 B 0.004 B 0.036 N 0.000 P 0.69 N 0.57 T -0.998 T 0.000 T 0.078 0.714 7.8 -1.07 0.050 0.992 5.477 0.713525 NA NA 0.98407 0.552045 NA 0.659 NA 6.4410634 1016 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 1016 11 18253176 18253176 C T exonic SAA2-SAA4,SAA4 NA nonsynonymous SNV SAA4:NM_006512:exon4:c.G266A:p.C89Y,SAA2-SAA4:NM_001199744:exon6:c.G500A:p.C167Y exonic ENSG00000148965 NA nonsynonymous SNV ENSG00000148965:ENST00000278222:exon4:c.G266A:p.C89Y NA NA 11p15.1 NA NA NA NA rs2460827 0.88 0.88 0.861 0.880591 0.9732 0.8948 0.9553 0.6997 0.9622 0.97 0.88 0.96 0.67 0.9471 0.97 1 T 0.0 B 0.0 B . . 1.000 P -1.1 N 2.05 T -1.018 T 0.000 T 0.021 -0.219 2.941 -5.63 -2.648 0.898 7.163 -0.21888 NA 1 0.972164 0.745111 NA 0.855 NA 6.4408694 1016 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 1016 19 54394965 54394965 T C exonic PRKCG NA synonymous SNV PRKCG:NM_002739:exon6:c.T567C:p.N189N exonic ENSG00000126583 NA synonymous SNV ENSG00000126583:ENST00000542049:exon4:c.T228C:p.N76N,ENSG00000126583:ENST00000263431:exon6:c.T567C:p.N189N,ENSG00000126583:ENST00000536044:exon6:c.T567C:p.N189N,ENSG00000126583:ENST00000540413:exon6:c.T567C:p.N189N,ENSG00000126583:ENST00000474397:exon7:c.T183C:p.N61N Score=623;Name=lod=455 NA 19q13.42 NA NA NA NA rs3745406 0.32 0.32 0.286 0.329473 0.4195 0.2946 0.415 0.1702 0.4274 0.41 0.29 0.4 0.14 0.3977 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.377216 1.377216 NA 0.409186 0.222878 ID=COSM148736;OCCURENCE=1(stomach) 0.348 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118062.2;CLNDSDB=.;CLNDSDBID=. 6.4402806 1016 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=ATF3,ETS1,ELF1_(SC-631),GABP,CTCF_(SC-5916),EBF1_(C-8),Znf143_(16618-1-AP),NFKB,CTCF_(C-20),ZEB1_(SC-25388),CTCF,E2F6_(H-50),TAF7_(SQ-8),TCF12,Pol2,SMC3_(ab9263),CTCFL_(SC-98982),ZNF263,TBP,SRF,Rad21,c-Myc,YY1_(C-20) 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 1016 1 22158157 22158157 A G exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon82:c.T11340C:p.N3780N exonic ENSG00000142798 NA synonymous SNV ENSG00000142798:ENST00000374695:exon82:c.T11340C:p.N3780N NA NA 1p36.12 Score=876;Name=V$NFKB_C NA NA NA rs2229488 0.08 0.08 0.078 0.0832668 0.0666 NA 0.0519 0.1687 0.093 0.07 NA 0.07 0.19 0.0827 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 -0.358306 NA NA 0.077245 0.172492 NA 0.08 NA 6.4401216 1016 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 1016 17 39340812 39340812 T C intronic KRTAP4-1 NA NA NA exonic ENSG00000198443 NA nonsynonymous SNV ENSG00000198443:ENST00000398472:exon1:c.A295G:p.M99V NA NA 17q21.2 Score=898;Name=V$CEBP_01 NA NA NA rs483929 0.9 0.9 0.839 0.952077 0.9324 0.9484 0.9741 0.9395 0.9775 0.88 0.91 0.94 0.9 0.7944 0.94 0.6 T . . . . . . 1.000 P . . 6.32 T -1.010 T 0.000 T 0.072 -2.282 0.004 1.48 0.112 -5.101 4.898 -2.282416 NA 0.44 NA NA NA 0.014 NA 6.4398667 1016 16 84360533 84360533 A G exonic WFDC1 NA nonsynonymous SNV WFDC1:NM_021197:exon6:c.A650G:p.K217R exonic ENSG00000103175 NA nonsynonymous SNV ENSG00000103175:ENST00000219454:exon6:c.A650G:p.K217R,ENSG00000103175:ENST00000568638:exon6:c.A650G:p.K217R NA NA 16q24.1 NA NA NA NA rs12933084 0.27 0.27 0.253 0.298323 0.3012 0.2788 0.2709 0.3275 0.2955 0.27 0.25 0.31 0.26 0.2844 0.37 1 T 0.0 B 0.0 B 0.000 N 1.000 P 0 N 1.41 T -0.947 T 0.000 T 0.028 -1.161 0.095 1.41 0.111 0.806 3.578 -1.161164 NA 1 0.308605 0.327727 NA 0.283 NA 6.4391284 1016 12 57106660 57106660 A T exonic NACA NA synonymous SNV NACA:NM_001113202:exon7:c.T543A:p.I181I,NACA:NM_001113203:exon10:c.T2673A:p.I891I exonic ENSG00000196531 NA synonymous SNV ENSG00000196531:ENST00000550920:exon6:c.T537A:p.I179I,ENSG00000196531:ENST00000356769:exon7:c.T543A:p.I181I,ENSG00000196531:ENST00000393891:exon7:c.T543A:p.I181I,ENSG00000196531:ENST00000546392:exon7:c.T543A:p.I181I,ENSG00000196531:ENST00000548563:exon7:c.T306A:p.I102I,ENSG00000196531:ENST00000549259:exon7:c.T543A:p.I181I,ENSG00000196531:ENST00000552540:exon7:c.T543A:p.I181I,ENSG00000196531:ENST00000454682:exon8:c.T6132A:p.I2044I,ENSG00000196531:ENST00000550952:exon10:c.T2673A:p.I891I Score=694;Name=lod=885 NA 12q13.3 NA Name=CTCF_(SC-5916) NA Score=95;Name=542416_0_-_95 rs4788 0.77 0.77 0.736 0.795527 0.7316 0.745 0.755 0.8623 0.8517 0.73 0.75 0.78 0.84 0.7733 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 1.023589 NA NA 0.722674 0.843622 NA 0.696 NA 6.4390926 1016 11 6007613 6007613 T G exonic OR52L1 NA nonsynonymous SNV OR52L1:NM_001005173:exon1:c.A548C:p.K183T exonic ENSG00000183313 NA nonsynonymous SNV ENSG00000183313:ENST00000332249:exon1:c.A548C:p.K183T NA NA 11p15.4 NA NA NA NA rs4354673 0.75 0.75 0.711 0.71226 0.8171 0.8671 0.8228 0.4206 0.7607 0.81 0.89 0.81 0.44 0.7856 0.89 0.02 D 0.549 P 0.138 B 0.285 N 1.000 P 0.75 N 8.7 T -1.006 T 0.000 T 0.114 0.096 4.518 -0.167 0.004 -0.099 7.707 0.096072 NA 0.03 0.791977 0.515703 NA 0.746 NA 6.4386564 1016 22 37273742 37273742 G A exonic NCF4 NA synonymous SNV NCF4:NM_000631:exon10:c.G897A:p.S299S exonic ENSG00000100365 NA synonymous SNV ENSG00000100365:ENST00000248899:exon10:c.G897A:p.S299S NA NA 22q12.3 NA NA Name=2 NA rs11552115 0.11 0.11 0.103 0.134585 0.0656 0.0645 0.1398 0.2655 0.0971 0.06 0.06 0.14 0.23 0.0941 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802415 NA NA 0.068837 0.217431 NA 0.036 NA 6.4381296 1016 20 19565671 19565671 G A exonic SLC24A3 NA synonymous SNV SLC24A3:NM_020689:exon5:c.G480A:p.S160S exonic ENSG00000185052 NA synonymous SNV ENSG00000185052:ENST00000328041:exon5:c.G480A:p.S160S NA NA 20p11.23 NA NA NA Score=89;Name=1410971_0_+_89 rs17293432 0.05 0.05 0.046 0.0369409 0.0716 NA 0.0504 0.0454 0.0184 0.07 NA 0.08 0.04 0.0653 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 1.209035 NA NA 0.092093 0.056514 NA 0.036 NA 6.4376736 1016 1 18808526 18808526 A C exonic KLHDC7A NA nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.A1051C:p.T351P exonic ENSG00000179023 NA nonsynonymous SNV ENSG00000179023:ENST00000400664:exon1:c.A1051C:p.T351P NA NA 1p36.13 NA NA NA NA rs2992752 0.72 0.72 0.721 0.672724 0.6113 0.8948 0.7277 0.6611 0.4836 0.62 0.91 0.7 0.67 0.6552 0.91 1 T 0.0 B 0.0 B 0.496 N 1.000 P -1.1 N -0.57 T -0.969 T 0.000 T 0.053 -0.964 0.317 0.69 -0.075 -1.198 3.866 -0.963986 NA 1 0.629638 0.663662 ID=COSM424852;OCCURENCE=1(breast) 0.601 NA 6.4371954 1016 18 51858197 51858197 A G exonic STARD6 NA synonymous SNV STARD6:NM_139171:exon4:c.T300C:p.S100S exonic ENSG00000174448 NA nonsynonymous SNV ENSG00000174448:ENST00000580990:exon3:c.T22C:p.F8L Score=538;Name=lod=205 NA 18q21.2 NA NA NA NA rs17470798 0.12 0.12 0.119 0.126997 0.1859 0.0248 0.1412 0.1172 0.1748 0.18 0.02 0.17 0.1 0.1742 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.417711 2.417711 NA 0.202907 0.139128 NA 0.08 NA 6.436993 1016 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 1016 4 125591423 125591423 A T exonic ANKRD50 NA synonymous SNV ANKRD50:NM_001167882:exon3:c.T2472A:p.A824A,ANKRD50:NM_020337:exon4:c.T3009A:p.A1003A exonic ENSG00000151458 NA synonymous SNV ENSG00000151458:ENST00000515641:exon3:c.T2472A:p.A824A,ENSG00000151458:ENST00000504087:exon4:c.T3009A:p.A1003A Score=387;Name=lod=50 NA 4q28.1 NA NA NA NA rs3822116 0.05 0.05 0.046 0.04373 0.0924 0.0129 0.036 0.0204 0.0624 0.1 0.01 0.04 0.01 0.0613 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 -0.577003 NA NA 0.076977 0.029505 NA 0.022 NA 6.4359896 1016 17 18077175 18077175 T C exonic MYO15A NA synonymous SNV MYO15A:NM_016239:exon64:c.T10431C:p.Y3477Y exonic ENSG00000091536 NA synonymous SNV ENSG00000091536:ENST00000418233:exon23:c.T2223C:p.Y741Y,ENSG00000091536:ENST00000205890:exon65:c.T10431C:p.Y3477Y Score=508;Name=lod=155 NA 17p11.2 Score=748;Name=V$SRF_01 NA NA NA rs854800 0.76 0.76 0.76 0.721446 0.7366 0.6319 0.7896 0.8888 0.5235 0.74 0.65 0.77 0.89 0.7312 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.037089 NA 0 0.763011 0.863049 NA 0.754 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038967.1;CLNDSDB=.;CLNDSDBID=. 6.4358556 1016 14 94642417 94642417 A G exonic PPP4R4 NA synonymous SNV PPP4R4:NM_020958:exon2:c.A144G:p.T48T,PPP4R4:NM_058237:exon2:c.A144G:p.T48T exonic ENSG00000119698 NA synonymous SNV ENSG00000119698:ENST00000304338:exon2:c.A144G:p.T48T,ENSG00000119698:ENST00000328839:exon2:c.A144G:p.T48T Score=607;Name=lod=390 NA 14q32.12 NA NA NA NA rs34520961 0.04 0.04 0.044 0.0267572 0.0895 NA 0.0389 0.0083 0.0061 0.09 NA 0.05 0.01 0.0549 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.367923 1.367923 NA 0.086977 0.017476 NA 0.094 NA 6.4352896 1017 1 1269554 1269554 T C exonic TAS1R3 NA nonsynonymous SNV TAS1R3:NM_152228:exon6:c.T2269C:p.C757R exonic ENSG00000169962 NA nonsynonymous SNV ENSG00000169962:ENST00000339381:exon6:c.T2269C:p.C757R NA NA 1p36.33 Score=768;Name=V$YY1_02 NA NA NA rs307377 0.96 0.96 0.947 0.951877 0.9662 0.9137 0.9813 0.9803 0.9172 0.97 0.91 0.99 0.99 0.9613 0.99 0.33 T 0.0 B 0.0 B 0.048 N 1.000 P -1.79 N -2.22 D -0.948 T 0.000 T 0.141 -2.57 0.003 -0.839 -0.627 0.423 1.084 -2.569503 NA 1 0.970959 0.989945 NA 0.978 NA 6.4348744 1017 12 7842932 7842932 C T exonic GDF3 NA nonsynonymous SNV GDF3:NM_020634:exon2:c.G637A:p.G213R exonic ENSG00000184344 NA nonsynonymous SNV ENSG00000184344:ENST00000329913:exon2:c.G637A:p.G213R NA NA 12p13.31 NA NA NA NA rs12819884 0.25 0.25 0.237 0.22524 0.326 0.1488 0.1671 0.1762 0.3078 0.34 0.19 0.21 0.2 0.2642 0.34 0.58 T 0.001 B 0.007 B 0.867 N 1.000 P 0.6 N -0.12 T -1.004 T 0.000 T 0.028 1.164 9.738 1.64 0.471 -0.091 5.392 1.164021 NA 0.64 0.308837 0.184521 ID=COSM147409;OCCURENCE=1(prostate),1(stomach) 0.261 NA 6.4342964 1017 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 1017 11 18194827 18194827 C G exonic MRGPRX4 NA nonsynonymous SNV MRGPRX4:NM_054032:exon1:c.C24G:p.F8L exonic ENSG00000179817 NA nonsynonymous SNV ENSG00000179817:ENST00000314254:exon1:c.C24G:p.F8L NA NA 11p15.1 NA NA NA NA rs2468774 0.34 0.34 0.315 0.330272 0.3062 0.4395 0.3415 0.2549 0.3364 0.32 0.48 0.33 0.23 0.3077 0.48 0.72 T 0.0 B 0.0 B 0.048 N 1.000 P 0 N 2.35 T -0.928 T 0.000 T 0.029 -0.617 1.256 1.49 0.135 0.053 3.850 -0.617153 NA 1 0.285232 0.245566 NA 0.21 NA 6.4342014 1017 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=E2F6,SREBP1,Mxi1_(bHLH),PAX5-C20,Ini1,c-Myc,Nrf1,Max,Pol2,YY1_(C-20),Pol2(phosphoS2),ELF1_(SC-631),ZNF263,HEY1,YY1,Pol2-4H8,TAF1,Pol2(b),HMGN3,NFKB,CCNT2,TBP 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 1017 6 32944746 32944746 G A intronic BRD2 NA NA NA exonic ENSG00000204256 NA unknown UNKNOWN Score=708;Name=lod=1002 NA 6p21.32 NA Name=Pol2-4H8 Name=6 NA rs11908 0.27 0.27 0.263 0.263379 0.3728 0.1964 0.2896 0.171 0.3262 0.39 0.19 0.27 0.18 0.3517 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563226 NA NA 0.341872 0.195543 NA 0.399 NA 6.433628 1017 1 89475135 89475135 C T exonic GBP3 NA nonsynonymous SNV GBP3:NM_018284:exon9:c.G1405A:p.V469M exonic ENSG00000117226 NA nonsynonymous SNV ENSG00000117226:ENST00000445969:exon2:c.G145A:p.V49M,ENSG00000117226:ENST00000370481:exon9:c.G1405A:p.V469M NA NA 1p22.2 NA NA NA NA rs10493821 0.22 0.22 0.23 0.198682 0.3201 0.2034 0.2421 0.0439 0.2474 0.32 0.2 0.28 0.07 0.2641 0.32 0.23 T 0.114 B 0.124 B 0.787 N 1.000 P 0.97 L 4.25 T -0.918 T 0.003 T 0.269 0.788 8.154 -1.05 -0.311 -0.665 8.276 0.788131 NA 0.31 0.315814 0.083976 NA 0.297 NA 6.4333194 1017 3 50197097 50197097 C T exonic SEMA3F NA synonymous SNV SEMA3F:NM_004186:exon2:c.C42T:p.T14T exonic ENSG00000001617 NA synonymous SNV ENSG00000001617:ENST00000002829:exon2:c.C42T:p.T14T,ENSG00000001617:ENST00000414301:exon2:c.C42T:p.T14T,ENSG00000001617:ENST00000426511:exon2:c.C42T:p.T14T,ENSG00000001617:ENST00000434342:exon2:c.C42T:p.T14T,ENSG00000001617:ENST00000450338:exon2:c.C42T:p.T14T Score=556;Name=lod=242 NA 3p21.31 Score=786;Name=V$PPARG_03 NA NA NA rs1046953 0.33 0.33 0.35 0.3752 0.4026 0.1915 0.2983 0.3177 0.6687 0.41 0.21 0.33 0.32 0.4228 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.934828 NA NA 0.40814 0.333863 NA 0.391 NA 6.4331266 1017 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=GATA-1,Pol2 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 1017 17 33288882 33288882 T G exonic ZNF830 NA nonsynonymous SNV ZNF830:NM_052857:exon1:c.T297G:p.H99Q exonic ENSG00000198783 NA nonsynonymous SNV ENSG00000198783:ENST00000361952:exon1:c.T297G:p.H99Q NA NA 17q12 NA NA Name=9 NA rs931196 0.9 0.9 0.873 0.881989 0.9781 0.9286 0.9712 0.6808 0.9438 0.98 0.93 0.96 0.7 0.9431 0.98 1 T 0.0 B 0.0 B 0.095 N 1.000 P -0.695 N 2.64 T -0.983 T 0.000 T 0.027 -1.217 0.064 2.27 0.418 0.196 7.073 -1.216808 NA 0.41 0.979884 0.708579 NA 0.862 NA 6.4322494 1017 11 71945332 71945332 A G exonic INPPL1 NA synonymous SNV INPPL1:NM_001567:exon20:c.A2220G:p.S740S exonic ENSG00000165458 NA synonymous SNV ENSG00000165458:ENST00000538751:exon19:c.A1494G:p.S498S,ENSG00000165458:ENST00000298229:exon20:c.A2220G:p.S740S,ENSG00000165458:ENST00000541756:exon20:c.A1494G:p.S498S NA NA 11q13.4 NA Name=ZNF274 NA NA rs61736312 0.15 0.15 0.139 0.157748 0.0746 0.1508 0.1196 0.3018 0.0828 0.07 0.12 0.14 0.29 0.0992 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122127 NA NA 0.060913 0.265455 NA 0.167 NA 6.4319536 1017 1 109656946 109656946 T C exonic KIAA1324 NA synonymous SNV KIAA1324:NM_001267048:exon1:c.T141C:p.H47H,KIAA1324:NM_020775:exon1:c.T141C:p.H47H exonic ENSG00000116299 NA synonymous SNV ENSG00000116299:ENST00000369939:exon1:c.T141C:p.H47H,ENSG00000116299:ENST00000457623:exon1:c.T141C:p.H47H,ENSG00000116299:ENST00000527996:exon1:c.T141C:p.H47H,ENSG00000116299:ENST00000529753:exon1:c.T141C:p.H47H,ENSG00000116299:ENST00000526264:exon2:c.T141C:p.H47H,ENSG00000116299:ENST00000531664:exon2:c.T141C:p.H47H,ENSG00000116299:ENST00000533147:exon2:c.T141C:p.H47H,ENSG00000116299:ENST00000534476:exon2:c.T141C:p.H47H Score=439;Name=lod=81 NA 1p13.3 NA Name=TAF1 NA NA rs667524 0.49 0.49 0.473 0.537141 0.3718 0.4812 0.4841 0.7511 0.5133 0.37 0.48 0.47 0.71 0.5048 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.458072 NA NA 0.358273 0.6734 NA 0.522 NA 6.4317936 1017 11 10521764 10521764 T C exonic AMPD3 NA synonymous SNV AMPD3:NM_001172431:exon10:c.T1212C:p.Y404Y,AMPD3:NM_000480:exon11:c.T1716C:p.Y572Y,AMPD3:NM_001025389:exon11:c.T1689C:p.Y563Y,AMPD3:NM_001025390:exon11:c.T1710C:p.Y570Y,AMPD3:NM_001172430:exon11:c.T1689C:p.Y563Y exonic ENSG00000133805 NA synonymous SNV ENSG00000133805:ENST00000529744:exon1:c.T33C:p.Y11Y,ENSG00000133805:ENST00000444303:exon10:c.T1212C:p.Y404Y,ENSG00000133805:ENST00000396553:exon11:c.T1689C:p.Y563Y,ENSG00000133805:ENST00000396554:exon11:c.T1716C:p.Y572Y,ENSG00000133805:ENST00000528723:exon11:c.T1710C:p.Y570Y,ENSG00000133805:ENST00000529507:exon11:c.T1689C:p.Y563Y,ENSG00000133805:ENST00000529834:exon11:c.T1689C:p.Y563Y Score=639;Name=lod=526 NA 11p15.4 NA NA NA Score=174;Name=366560_0_-_174 rs3741041 0.4 0.4 0.371 0.367412 0.4145 0.6944 0.3991 0.0545 0.3824 0.4 0.68 0.4 0.09 0.4084 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.356926 1.356926 NA 0.412785 0.122672 NA 0.406 NA 6.4309816 1017 11 36597734 36597734 A G exonic RAG1 NA synonymous SNV RAG1:NM_000448:exon2:c.A2880G:p.A960A exonic ENSG00000166349 NA synonymous SNV ENSG00000166349:ENST00000299440:exon2:c.A2880G:p.A960A NA NA 11p12 Score=948;Name=V$NKX25_01 NA NA NA rs1980131 0.07 0.07 0.072 0.0625 0.0875 0.005 0.0677 0.0847 0.0624 0.09 0.01 0.08 0.1 0.0678 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.036862 NA NA 0.080852 0.074024 NA 0.051 NA 6.4305146 1017 2 206364737 206364737 T C exonic PARD3B NA synonymous SNV PARD3B:NM_057177:exon20:c.T2955C:p.S985S,PARD3B:NM_152526:exon20:c.T2976C:p.S992S,PARD3B:NM_205863:exon20:c.T2859C:p.S953S exonic ENSG00000116117 NA synonymous SNV ENSG00000116117:ENST00000349953:exon20:c.T2859C:p.S953S,ENSG00000116117:ENST00000351153:exon20:c.T2955C:p.S985S,ENSG00000116117:ENST00000358768:exon20:c.T2976C:p.S992S,ENSG00000116117:ENST00000406610:exon21:c.T3162C:p.S1054S Score=304;Name=lod=23 NA 2q33.3 Score=779;Name=V$ER_Q6 NA NA NA rs10197347 0.44 0.44 0.425 0.448482 0.4115 0.4871 0.5692 0.3601 0.4806 0.43 0.49 0.53 0.34 0.4426 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.857786 NA NA 0.382153 0.372793 NA 0.471 NA 6.4304136 1017 16 23607504 23607504 G C exonic NDUFAB1 NA synonymous SNV NDUFAB1:NM_005003:exon1:c.C108G:p.L36L exonic ENSG00000004779 NA synonymous SNV ENSG00000004779:ENST00000007516:exon1:c.C108G:p.L36L,ENSG00000004779:ENST00000484769:exon1:c.C108G:p.L36L,ENSG00000004779:ENST00000570319:exon1:c.C108G:p.L36L NA NA 16p12.2 NA Name=TAF1,NFKB,MEF2A,Pol2-4H8,HEY1,HNF4G_(SC-6558),GATA-1,Pol2,Pol2(phosphoS2),HA-E2F1,Ini1,TAF7_(SQ-8),POU2F2,ELK4,TR4,TBP,CCNT2,YY1,GTF2F1_(RAP-74),Max,YY1_(C-20),Oct-2,Sin3Ak-20 NA NA rs466719 0.13 0.13 0.121 0.125599 0.0736 0.1726 0.062 0.202 0.0726 0.08 0.18 0.06 0.21 0.0928 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.674659 NA NA 0.070093 0.167581 ID=COSM434928;OCCURENCE=1(breast) 0.058 NA 6.4301736 1017 7 75211414 75211414 A G exonic HIP1 NA synonymous SNV HIP1:NM_001243198:exon6:c.T519C:p.A173A,HIP1:NM_005338:exon6:c.T519C:p.A173A exonic ENSG00000127946 NA synonymous SNV ENSG00000127946:ENST00000336926:exon6:c.T519C:p.A173A,ENSG00000127946:ENST00000420909:exon6:c.T432C:p.A144A,ENSG00000127946:ENST00000434438:exon6:c.T519C:p.A173A NA Name=Alcoholism (12-month weekly alcohol consumption) 7q11.23 NA NA NA NA rs237238 0.09 0.09 0.08 0.0974441 0.0795 0.0754 0.0793 0.1074 0.138 0.09 0.06 0.08 0.12 0.0849 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 1.704445 1.704445 NA 0.072209 0.093282 NA 0.065 NA 6.4300576 1017 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 1017 1 110924353 110924353 G A exonic SLC16A4 NA synonymous SNV SLC16A4:NM_001201547:exon3:c.C99T:p.F33F,SLC16A4:NM_001201549:exon4:c.C285T:p.F95F,SLC16A4:NM_004696:exon4:c.C285T:p.F95F exonic ENSG00000168679 NA nonsynonymous SNV ENSG00000168679:ENST00000461647:exon3:c.C152T:p.S51L,ENSG00000168679:ENST00000492412:exon3:c.C152T:p.S51L NA NA 1p13.3 Score=933;Name=V$NFKAPPAB_01 NA NA NA rs3738750 0.17 0.17 0.153 0.175919 0.1889 0.2609 0.1614 0.0318 0.2802 0.2 0.27 0.17 0.04 0.1966 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.365169 1.365169 NA 0.185233 0.055606 ID=COSM146577;OCCURENCE=1(stomach) 0.101 NA 6.429267 1017 8 17513414 17513414 G A exonic MTUS1 NA synonymous SNV MTUS1:NM_020749:exon4:c.C564T:p.Y188Y,MTUS1:NM_001001931:exon6:c.C807T:p.Y269Y,MTUS1:NM_001166393:exon6:c.C501T:p.Y167Y,MTUS1:NM_001001925:exon8:c.C2904T:p.Y968Y,MTUS1:NM_001001924:exon9:c.C3066T:p.Y1022Y exonic ENSG00000129422 NA synonymous SNV ENSG00000129422:ENST00000400046:exon3:c.C282T:p.Y94Y,ENSG00000129422:ENST00000297488:exon4:c.C564T:p.Y188Y,ENSG00000129422:ENST00000381861:exon6:c.C807T:p.Y269Y,ENSG00000129422:ENST00000544260:exon6:c.C501T:p.Y167Y,ENSG00000129422:ENST00000519263:exon7:c.C2904T:p.Y968Y,ENSG00000129422:ENST00000381869:exon8:c.C2904T:p.Y968Y,ENSG00000129422:ENST00000262102:exon9:c.C3066T:p.Y1022Y Score=251;Name=lod=14 NA 8p22 NA NA NA NA rs12224 0.07 0.07 0.084 0.0770767 0.0726 0.0208 0.0548 0.1263 0.089 0.09 0.01 0.06 0.13 0.0756 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.686469 NA NA 0.089663 0.11194 NA 0.159 NA 6.4288036 1017 4 100443720 100443720 G A exonic C4orf17 NA nonsynonymous SNV C4orf17:NM_032149:exon3:c.G191A:p.G64E exonic ENSG00000138813 NA nonsynonymous SNV ENSG00000138813:ENST00000326581:exon3:c.G191A:p.G64E,ENSG00000138813:ENST00000477187:exon3:c.G191A:p.G64E,ENSG00000138813:ENST00000514652:exon3:c.G191A:p.G64E NA NA 4q23 NA NA NA NA rs13143848 0.26 0.26 0.267 0.314297 0.2992 0.2361 0.219 0.3449 0.4366 0.29 0.16 0.23 0.35 0.2975 0.35 0.55 T 0.225 B 0.079 B 0.571 N 1.000 P 1.79 L 2.33 T -0.930 T 0.000 T 0.113 0.649 7.485 1.2 0.332 0.097 3.282 0.649475 NA 1 0.308023 0.335679 ID=COSM1131318;OCCURENCE=1(prostate) 0.326 NA 6.4286104 1017 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 1017 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 1017 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 1017 11 10555589 10555589 A G exonic RNF141 NA synonymous SNV RNF141:NM_016422:exon2:c.T117C:p.L39L exonic ENSG00000110315 NA synonymous SNV ENSG00000110315:ENST00000265981:exon2:c.T117C:p.L39L,ENSG00000110315:ENST00000528665:exon2:c.T117C:p.L39L,ENSG00000110315:ENST00000530156:exon2:c.T117C:p.L39L,ENSG00000110315:ENST00000533412:exon2:c.T117C:p.L39L Score=614;Name=lod=417 NA 11p15.4 Score=935;Name=V$LYF1_01 NA NA NA rs1065052 0.39 0.39 0.347 0.356629 0.4135 0.6954 0.4006 0.0295 0.3599 0.4 0.68 0.39 0.05 0.405 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.221027 NA NA 0.420354 0.088596 NA 0.37 NA 6.4278126 1017 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 1017 5 145650597 145650597 A G exonic RBM27 NA synonymous SNV RBM27:NM_018989:exon18:c.A2772G:p.K924K exonic ENSG00000091009 NA synonymous SNV ENSG00000091009:ENST00000506502:exon17:c.A2607G:p.K869K,ENSG00000091009:ENST00000265271:exon18:c.A2772G:p.K924K Score=646;Name=lod=565 NA 5q32 NA NA NA NA rs17104362 0.14 0.14 0.144 0.162141 0.0716 NA 0.062 0.4962 0.0419 0.08 NA 0.07 0.45 0.0906 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.094357 NA NA 0.077331 0.405612 NA 0.167 NA 6.4271356 1017 19 49116555 49116555 A G exonic FAM83E NA synonymous SNV FAM83E:NM_017708:exon1:c.T75C:p.F25F exonic ENSG00000105523 NA synonymous SNV ENSG00000105523:ENST00000263266:exon1:c.T75C:p.F25F Score=284;Name=lod=19 NA 19q13.33 NA Name=Pol2 Name=5 NA rs368654 0.86 0.86 0.846 0.886981 0.7137 0.997 0.8401 0.9887 0.8476 0.72 0.99 0.82 0.97 0.8019 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 0.734106 NA NA 0.724102 0.94806 ID=COSM439910;OCCURENCE=1(breast) 0.848 NA 6.4269646 1017 4 155243604 155243604 T C exonic DCHS2 NA nonsynonymous SNV DCHS2:NM_017639:exon13:c.A2690G:p.N897S exonic ENSG00000197410 NA nonsynonymous SNV ENSG00000197410:ENST00000357232:exon13:c.A2690G:p.N897S Score=520;Name=lod=173 NA 4q31.3 NA NA NA NA rs1352714 0.88 0.88 0.865 0.867812 0.9811 0.8849 0.9582 0.6687 0.9387 0.98 0.87 0.98 0.65 0.944 0.98 0.86 T 0.0 B 0.0 B 0.003 N 0.000 P -0.975 N 0.75 T -0.975 T 0.000 T 0.029 0.01 4.067 2.75 0.059 -0.021 6.496 0.010324 NA 1 0.981395 0.721289 NA 0.855 NA 6.4268384 1017 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 1017 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=PU.1,Egr-1,TBP,TAF1,ELF1_(SC-631),ZNF263,Pol2,Ini1 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 1017 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 1017 17 56388238 56388238 C G exonic BZRAP1 NA nonsynonymous SNV BZRAP1:NM_024418:exon18:c.G3238C:p.A1080P,BZRAP1:NM_001261835:exon19:c.G3418C:p.A1140P,BZRAP1:NM_004758:exon19:c.G3418C:p.A1140P exonic ENSG00000005379 NA nonsynonymous SNV ENSG00000005379:ENST00000268893:exon18:c.G3238C:p.A1080P,ENSG00000005379:ENST00000343736:exon19:c.G3418C:p.A1140P,ENSG00000005379:ENST00000355701:exon19:c.G3418C:p.A1140P NA NA 17q22 NA NA NA NA rs2680704 0.27 0.27 0.245 0.261581 0.331 0.2391 0.2637 0.2375 0.2444 0.32 0.24 0.3 0.22 0.2867 0.34 0.43 T 0.0 B 0.0 B 0.062 N 1.000 P -0.69 N 3.64 T -0.908 T 0.000 T 0.046 0.588 7.172 -1.05 -0.170 -0.383 6.008 0.587841 NA 0.05 0.289077 0.230505 ID=COSM436990,COSM436991;OCCURENCE=1(breast),1(large_intestine) 0.391 NA 6.4265564 1017 19 50760716 50760716 C G exonic MYH14 NA synonymous SNV MYH14:NM_024729:exon16:c.C2082G:p.R694R,MYH14:NM_001077186:exon17:c.C2106G:p.R702R,MYH14:NM_001145809:exon18:c.C2205G:p.R735R exonic ENSG00000105357 NA synonymous SNV ENSG00000105357:ENST00000596571:exon15:c.C2082G:p.R694R,ENSG00000105357:ENST00000262269:exon17:c.C2205G:p.R735R,ENSG00000105357:ENST00000376970:exon17:c.C2181G:p.R727R,ENSG00000105357:ENST00000425460:exon17:c.C2106G:p.R702R,ENSG00000105357:ENST00000598205:exon17:c.C2106G:p.R702R,ENSG00000105357:ENST00000599920:exon17:c.C2106G:p.R702R,ENSG00000105357:ENST00000440075:exon18:c.C2205G:p.R735R,ENSG00000105357:ENST00000601313:exon18:c.C2205G:p.R735R Score=658;Name=lod=629 NA 19q13.33 NA NA NA NA rs378811 0.36 0.36 0.363 0.357827 0.4026 0.374 0.3026 0.3374 0.362 0.39 0.36 0.32 0.36 0.4141 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.28329 1.28329 NA 0.423583 0.312004 ID=COSM440034,COSM440033;OCCURENCE=1(breast),1(large_intestine) 0.449 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037031.1;CLNDSDB=.;CLNDSDBID=. 6.4263836 1017 4 38830350 38830350 A G exonic TLR6 NA nonsynonymous SNV TLR6:NM_006068:exon2:c.T745C:p.S249P exonic ENSG00000174130 NA nonsynonymous SNV ENSG00000174130:ENST00000381950:exon1:c.T745C:p.S249P,ENSG00000174130:ENST00000436693:exon2:c.T745C:p.S249P NA NA 4p14 NA NA NA NA rs5743810 0.81 0.81 0.821 0.884784 0.5915 1 0.817 0.9834 0.9826 0.57 1 0.8 0.98 0.7392 1 0.38 T 0.0 B 0.0 B 0.197 N 1.000 P -1.06 N 2.49 T -1.001 T 0.000 T 0.05 -1.195 0.075 3.52 0.748 0.544 4.921 -1.195197 NA 0.56 0.576512 0.916024 NA 0.819 NA 6.4261214 1017 19 34868642 34868642 A G exonic GPI NA synonymous SNV GPI:NM_000175:exon6:c.A489G:p.G163G,GPI:NM_001184722:exon6:c.A522G:p.G174G exonic ENSG00000105220 NA synonymous SNV ENSG00000105220:ENST00000589640:exon5:c.A405G:p.G135G,ENSG00000105220:ENST00000591204:exon5:c.A369G:p.G123G,ENSG00000105220:ENST00000356487:exon6:c.A489G:p.G163G,ENSG00000105220:ENST00000415930:exon6:c.A522G:p.G174G,ENSG00000105220:ENST00000586425:exon6:c.A489G:p.G163G,ENSG00000105220:ENST00000589399:exon6:c.A423G:p.G141G,ENSG00000105220:ENST00000588991:exon7:c.A534G:p.G178G NA NA 19q13.11 NA Name=Pol2 NA NA rs1801015 0.17 0.17 0.183 0.200679 0.0646 0.1984 0.0821 0.3949 0.1646 0.06 0.16 0.09 0.4 0.1112 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150785 NA NA 0.065 0.323877 NA 0.232 NA 6.4258666 1017 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 1017 2 135911422 135911422 T C exonic RAB3GAP1 NA synonymous SNV RAB3GAP1:NM_001172435:exon19:c.T2265C:p.F755F,RAB3GAP1:NM_012233:exon19:c.T2265C:p.F755F exonic ENSG00000115839 NA synonymous SNV ENSG00000115839:ENST00000264158:exon19:c.T2265C:p.F755F,ENSG00000115839:ENST00000442034:exon19:c.T2265C:p.F755F,ENSG00000115839:ENST00000539493:exon21:c.T2133C:p.F711F Score=503;Name=lod=147 NA 2q21.3 NA NA NA NA rs17261772 0.73 0.73 0.746 0.786741 0.4145 1 0.6542 0.9705 0.7955 0.41 1 0.65 0.96 0.5174 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.057105 NA NA 0.30907 0.845211 NA 0.601 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118094.2;CLNDSDB=.;CLNDSDBID=. 6.4256966 1017 10 69666598 69666598 T C exonic SIRT1 NA synonymous SNV SIRT1:NM_001142498:exon4:c.T109C:p.L37L,SIRT1:NM_012238:exon5:c.T994C:p.L332L exonic ENSG00000096717 NA synonymous SNV ENSG00000096717:ENST00000403579:exon2:c.T85C:p.L29L,ENSG00000096717:ENST00000406900:exon3:c.T85C:p.L29L,ENSG00000096717:ENST00000432464:exon4:c.T109C:p.L37L,ENSG00000096717:ENST00000212015:exon5:c.T994C:p.L332L Score=691;Name=lod=861 NA 10q21.3 NA NA NA NA rs2273773 0.14 0.14 0.12 0.127196 0.0755 0.3115 0.1297 0.0204 0.1329 0.08 0.34 0.12 0.02 0.1047 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.98631 NA NA 0.06093 0.030413 NA 0.08 NA 6.4255366 1017 3 9991388 9991388 G C exonic PRRT3 NA nonsynonymous SNV PRRT3:NM_207351:exon2:c.C412G:p.Q138E exonic ENSG00000163704 NA nonsynonymous SNV ENSG00000163704:ENST00000295984:exon2:c.C412G:p.Q138E,ENSG00000163704:ENST00000411976:exon2:c.C412G:p.Q138E,ENSG00000163704:ENST00000412055:exon2:c.C412G:p.Q138E NA NA 3p25.3 NA NA Name=3 NA rs279601 0.98 0.98 0.972 0.967053 0.9712 0.9663 0.9813 0.9977 0.9121 0.97 0.96 0.99 1 0.9633 1 . . 0.0 B 0.0 B 0.005 N 1.000 P -1.04 N 2.9 T -0.989 T 0.000 T 0.022 -2.223 0.005 3.52 0.582 0.500 6.982 -2.222582 NA 1 0.973553 0.995059 NA 0.986 NA 6.4252804 1018 19 10112346 10112346 T C exonic COL5A3 NA nonsynonymous SNV COL5A3:NM_015719:exon8:c.A964G:p.R322G exonic ENSG00000080573 NA nonsynonymous SNV ENSG00000080573:ENST00000264828:exon8:c.A964G:p.R322G NA NA 19p13.2 NA NA NA NA rs2287803 0.93 0.93 0.94 0.929712 0.9821 0.8056 0.8862 0.9826 0.9632 0.98 0.83 0.89 0.98 0.9513 0.98 0.39 T 0.0 B 0.0 B 0.316 N 1.000 P -0.69 N -2.48 D -0.946 T 0.000 T 0.014 -0.436 1.973 2.17 0.100 0.044 4.501 -0.436037 NA 0.38 0.975 0.978212 NA 0.942 NA 6.4249334 1018 3 23934772 23934772 G A exonic NKIRAS1 NA synonymous SNV NKIRAS1:NM_020345:exon5:c.C393T:p.D131D exonic ENSG00000197885 NA synonymous SNV ENSG00000197885:ENST00000416026:exon4:c.C393T:p.D131D,ENSG00000197885:ENST00000443659:exon4:c.C393T:p.D131D,ENSG00000197885:ENST00000388759:exon5:c.C393T:p.D131D,ENSG00000197885:ENST00000412028:exon5:c.C393T:p.D131D,ENSG00000197885:ENST00000415901:exon5:c.C393T:p.D131D,ENSG00000197885:ENST00000421515:exon5:c.C393T:p.D131D,ENSG00000197885:ENST00000425478:exon5:c.C393T:p.D131D,ENSG00000197885:ENST00000437230:exon5:c.C393T:p.D131D NA NA 3p24.2 Score=850;Name=V$HTF_01 NA NA NA rs3762775 0.12 0.12 0.111 0.153155 0.0676 0.003 0.1772 0.2799 0.2076 0.07 0.0017 0.15 0.29 0.1073 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.808209 NA NA 0.06686 0.240808 NA 0.123 NA 6.4249066 1018 17 76183043 76183043 A G exonic TK1 NA synonymous SNV TK1:NM_003258:exon1:c.T33C:p.P11P exonic ENSG00000167900 NA synonymous SNV ENSG00000167900:ENST00000301634:exon1:c.T33C:p.P11P,ENSG00000167900:ENST00000405273:exon1:c.T33C:p.P11P,ENSG00000167900:ENST00000586613:exon1:c.T33C:p.P11P,ENSG00000167900:ENST00000588734:exon1:c.T33C:p.P11P,ENSG00000167900:ENST00000590430:exon1:c.T33C:p.P11P,ENSG00000167900:ENST00000590862:exon1:c.T33C:p.P11P Score=512;Name=lod=160 NA 17q25.3 NA Name=NFKB,TAF1,Pol2-4H8,HEY1,STAT1,Pol2(phosphoS2),Pol2,CHD2_(N-1250),TAF7_(SQ-8),E2F6,POU2F2,TBP,Pol2(b),Oct-2,E2F4,Sin3Ak-20 NA NA rs1071664 0.54 0.54 0.482 0.553115 0.3569 0.5873 0.611 0.7368 0.4305 0.37 0.58 0.57 0.75 0.5302 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 1.534442 1.534442 NA 0.355143 0.678051 NA 0.514 NA 6.4244236 1018 12 82792942 82792942 A G exonic METTL25 NA synonymous SNV METTL25:NM_032230:exon4:c.A900G:p.P300P exonic ENSG00000127720 NA synonymous SNV ENSG00000127720:ENST00000248306:exon4:c.A900G:p.P300P NA NA 12q21.31 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs10506873 0.04 0.04 0.031 0.0423323 0.0805 0.002 0.0591 0.0189 0.0644 0.07 0.0017 0.06 0.02 0.0665 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 -0.961971 NA NA 0.095277 0.033364 NA 0.043 NA 6.4243896 1018 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 1018 5 71492734 71492734 C T exonic MAP1B NA synonymous SNV MAP1B:NM_005909:exon5:c.C3552T:p.N1184N exonic ENSG00000131711 NA synonymous SNV ENSG00000131711:ENST00000296755:exon5:c.C3552T:p.N1184N Score=385;Name=lod=49 NA 5q13.2 NA NA NA NA rs7716079 0.06 0.06 0.072 0.0754792 0.0765 0.0317 0.0389 0.1157 0.091 0.08 0.03 0.03 0.08 0.0824 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 -2.061663 NA NA 0.084186 0.110531 NA 0.145 NA 6.4235806 1018 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 1018 12 65146532 65146532 C T exonic GNS NA synonymous SNV GNS:NM_002076:exon2:c.G198A:p.P66P exonic ENSG00000135677 NA synonymous SNV ENSG00000135677:ENST00000418919:exon1:c.G30A:p.P10P,ENSG00000135677:ENST00000258145:exon2:c.G198A:p.P66P,ENSG00000135677:ENST00000543646:exon3:c.G294A:p.P98P Score=403;Name=lod=58 NA 12q14.3 NA NA NA NA rs1147096 0.75 0.75 0.797 NA NA NA NA NA NA 0.62 0.86 0.62 0.94 0.655 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 0.383469 NA NA 0.589419 0.895824 NA 0.754 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079972.1;CLNDSDB=.;CLNDSDBID=. 6.4222476 1018 9 22006273 22006273 G T ncRNA_intronic CDKN2B-AS1 NA NA NA ncRNA_intronic ENSG00000240498 NA NA NA NA NA 9p21.3 NA Name=SUZ12,CTCF Name=19 NA rs2069426 0.07 0.07 0.079 0.0607029 0.0815 0.0159 0.0447 0.0991 0.045 0.08 0.02 0.05 0.13 0.0774 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.741627 NA NA 0.085711 0.086845 NA 0.051 NA 6.4220556 1018 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 1018 12 48526659 48526659 G A exonic PFKM NA synonymous SNV PFKM:NM_001166688:exon4:c.G246A:p.T82T,PFKM:NM_000289:exon5:c.G246A:p.T82T,PFKM:NM_001166687:exon5:c.G246A:p.T82T,PFKM:NM_001166686:exon7:c.G459A:p.T153T exonic ENSG00000152556 NA synonymous SNV ENSG00000152556:ENST00000547587:exon4:c.G246A:p.T82T,ENSG00000152556:ENST00000312352:exon5:c.G246A:p.T82T,ENSG00000152556:ENST00000359794:exon5:c.G246A:p.T82T,ENSG00000152556:ENST00000395233:exon5:c.G246A:p.T82T,ENSG00000152556:ENST00000548345:exon5:c.G246A:p.T82T,ENSG00000152556:ENST00000549003:exon5:c.G246A:p.T82T,ENSG00000152556:ENST00000549022:exon5:c.G246A:p.T82T,ENSG00000152556:ENST00000549941:exon5:c.G345A:p.T115T,ENSG00000152556:ENST00000550345:exon5:c.G246A:p.T82T,ENSG00000152556:ENST00000550924:exon5:c.G246A:p.T82T,ENSG00000152556:ENST00000551339:exon5:c.G246A:p.T82T,ENSG00000152556:ENST00000551804:exon5:c.G246A:p.T82T,ENSG00000152556:ENST00000340802:exon7:c.G459A:p.T153T NA NA 12q13.11 Score=815;Name=V$GFI1_01 NA NA NA rs2228501 0.03 0.03 0.039 0.0271565 0.0835 NA 0.0346 0.0136 0.0102 0.08 NA 0.02 0.02 0.0769 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 0.709556 NA NA 0.084302 0.026328 NA 0.029 NA 6.4219646 1018 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$PAX5_02 NA NA NA rs6791 0.74 0.74 0.733 0.70607 0.664 0.8185 0.6859 0.8071 0.5112 0.67 0.84 0.65 0.79 0.6352 0.84 0.68 T 0.0 B 0.0 B 0.412 N 1.000 P -1.445 N -0.99 T -0.992 T 0.000 T 0.025 -1.105 0.138 -0.767 -0.523 -0.176 6.846 -1.105234 NA 0.5 0.61229 0.774693 ID=COSM440643;OCCURENCE=1(breast) 0.783 NA 6.4218434 1018 8 72975801 72975801 T G exonic TRPA1 NA nonsynonymous SNV TRPA1:NM_007332:exon5:c.A558C:p.K186N exonic ENSG00000104321 NA nonsynonymous SNV ENSG00000104321:ENST00000523582:exon2:c.A114C:p.K38N,ENSG00000104321:ENST00000262209:exon5:c.A558C:p.K186N NA NA 8q13.3 NA NA NA NA rs7819749 0.82 0.82 0.807 0.827676 0.6074 0.9752 0.7695 0.9705 0.7505 0.62 0.99 0.75 0.96 0.7037 0.99 0.42 T 0.0 B 0.001 B 0.126 N 1.000 P 0.43 N -0.14 T -0.975 T 0.000 T 0.021 2.195 13.3 -11.2 -2.413 -0.526 5.412 2.195311 2.195311 0.63 0.60186 0.917385 NA 0.783 NA 6.4203734 1018 10 104596981 104596981 G A exonic CYP17A1 NA synonymous SNV CYP17A1:NM_000102:exon1:c.C138T:p.H46H exonic ENSG00000148795 NA synonymous SNV ENSG00000148795:ENST00000369887:exon1:c.C138T:p.H46H NA NA 10q24.32 Score=747;Name=V$SRF_01 Name=FOXA1_(C-20) NA NA rs6162 0.43 0.43 0.408 0.442492 0.4115 0.5913 0.4236 0.323 0.4959 0.42 0.56 0.4 0.33 0.4248 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.265487 NA NA 0.410465 0.364503 NA 0.275 NA 6.4199016 1018 6 35748931 35748931 T C exonic CLPSL1 NA nonsynonymous SNV CLPSL1:NM_001010886:exon1:c.T44C:p.F15S exonic ENSG00000204140 NA nonsynonymous SNV ENSG00000204140:ENST00000373861:exon1:c.T44C:p.F15S,ENSG00000204140:ENST00000542261:exon1:c.T41C:p.F14S NA NA 6p21.31 NA NA NA NA rs34109614 0.29 0.29 0.286 0.296526 0.2992 0.2917 0.2522 0.3351 0.2781 0.3 0.26 0.25 0.35 0.2944 0.35 0.1 T 0.0 B 0.0 B 0.420 N 1.000 P -1.1 N 1.49 T -0.996 T 0.008 T 0.035 -2.05 0.006 -0.45 -0.170 -0.240 2.910 -2.049623 NA 0 0.320019 0.33284 NA 0.29 NA 6.4197144 1018 14 35331288 35331288 G A exonic BAZ1A NA synonymous SNV BAZ1A:NM_013448:exon3:c.C354T:p.V118V,BAZ1A:NM_182648:exon3:c.C354T:p.V118V exonic ENSG00000198604 NA synonymous SNV ENSG00000198604:ENST00000382422:exon2:c.C354T:p.V118V,ENSG00000198604:ENST00000358716:exon3:c.C354T:p.V118V,ENSG00000198604:ENST00000360310:exon3:c.C354T:p.V118V Score=760;Name=lod=1641 NA 14q13.2 NA NA NA NA rs17592803 0.03 0.03 0.037 0.0363419 0.0775 NA 0.0418 0.0023 0.0736 0.08 NA 0.04 0.0041 0.0749 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 1.066789 NA NA 0.095233 0.021335 NA 0.014 NA 6.4190336 1018 12 48596890 48596890 G A exonic OR10AD1 NA synonymous SNV OR10AD1:NM_001004134:exon1:c.C186T:p.F62F exonic ENSG00000172640 NA synonymous SNV ENSG00000172640:ENST00000310248:exon1:c.C186T:p.F62F Score=489;Name=lod=130 NA 12q13.11 NA NA NA NA rs17823193 0.05 0.05 0.042 0.0425319 0.0924 0.006 0.036 0.059 0.0112 0.09 0.01 0.02 0.04 0.0669 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 0.136684 NA NA 0.088605 0.061961 NA 0.043 NA 6.4187616 1018 12 48596254 48596254 A C exonic OR10AD1 NA synonymous SNV OR10AD1:NM_001004134:exon1:c.T822G:p.P274P exonic ENSG00000172640 NA synonymous SNV ENSG00000172640:ENST00000310248:exon1:c.T822G:p.P274P Score=385;Name=lod=49 NA 12q13.11 NA NA NA NA rs11830378 0.05 0.05 0.047 0.0423323 0.0924 0.006 0.036 0.059 0.0102 0.09 0.01 0.02 0.04 0.067 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 0.448078 NA NA 0.088837 0.062415 NA 0.043 NA 6.4184296 1018 1 7723534 7723534 G A exonic CAMTA1 NA synonymous SNV CAMTA1:NM_015215:exon9:c.G927A:p.S309S exonic ENSG00000171735 NA synonymous SNV ENSG00000171735:ENST00000303635:exon9:c.G927A:p.S309S,ENSG00000171735:ENST00000439411:exon9:c.G927A:p.S309S NA NA 1p36.23 Score=830;Name=V$XBP1_01 NA NA NA rs3737907 0.15 0.15 0.145 0.152955 0.0626 0.2411 0.2493 0.1793 0.0511 0.06 0.24 0.18 0.17 0.1189 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.071295 NA NA 0.067558 0.135497 NA 0.116 NA 6.4176086 1018 22 38122448 38122448 C T exonic TRIOBP NA synonymous SNV TRIOBP:NM_001039141:exon7:c.C3885T:p.S1295S exonic ENSG00000100106 NA synonymous SNV ENSG00000100106:ENST00000406386:exon7:c.C3885T:p.S1295S Score=448;Name=lod=88 NA 22q13.1 Score=853;Name=V$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 1018 3 47618953 47618953 C A exonic CSPG5 NA nonsynonymous SNV CSPG5:NM_001206942:exon2:c.G149T:p.G50V,CSPG5:NM_001206943:exon2:c.G563T:p.G188V,CSPG5:NM_001206944:exon2:c.G563T:p.G188V,CSPG5:NM_001206945:exon2:c.G149T:p.G50V,CSPG5:NM_006574:exon2:c.G563T:p.G188V exonic ENSG00000114646 NA nonsynonymous SNV ENSG00000114646:ENST00000456150:exon1:c.G149T:p.G50V,ENSG00000114646:ENST00000264723:exon2:c.G563T:p.G188V,ENSG00000114646:ENST00000383738:exon2:c.G563T:p.G188V Score=289;Name=lod=20 NA 3p21.31 NA NA NA NA rs3732530 0.57 0.57 0.573 0.521166 0.664 0.5992 0.4784 0.3593 0.5429 0.67 0.62 0.5 0.43 0.5948 0.67 0.24 T 0.028 B 0.012 B 0.250 N 0.014 P 0.205 N 0.93 T -0.980 T 0.000 T 0.18 1.51 11 0.844 0.429 0.166 2.953 1.509864 1.509864 0.17 0.657326 0.388334 NA 0.609 NA 6.4172074 1018 X 123526031 123526031 T C exonic TENM1 NA synonymous SNV TENM1:NM_014253:exon27:c.A5538G:p.S1846S,TENM1:NM_001163278:exon28:c.A5559G:p.S1853S,TENM1:NM_001163279:exon28:c.A5556G:p.S1852S exonic ENSG00000009694 NA synonymous SNV ENSG00000009694:ENST00000371130:exon27:c.A5538G:p.S1846S,ENSG00000009694:ENST00000422452:exon28:c.A5559G:p.S1853S Score=366;Name=lod=41 NA Xq25 NA NA NA NA rs2076165 0.19 0.19 0.15342 NA NA NA NA NA NA 0.11 0.32 0.2 0.13 0.1367 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.157459 NA NA 0.112846 0.140287 NA 0.13 NA 6.4171206 1018 6 31727897 31727897 C T exonic MSH5 NA synonymous SNV MSH5:NM_002441:exon19:c.C1716T:p.T572T,MSH5:NM_025259:exon19:c.C1767T:p.T589T,MSH5:NM_172165:exon19:c.C1716T:p.T572T,MSH5:NM_172166:exon19:c.C1716T:p.T572T exonic ENSG00000204410,ENSG00000255152 NA synonymous SNV ENSG00000204410:ENST00000484309:exon2:c.C90T:p.T30T,ENSG00000204410:ENST00000395853:exon8:c.C738T:p.T246T,ENSG00000204410:ENST00000431848:exon11:c.C813T:p.T271T,ENSG00000204410:ENST00000423982:exon18:c.C1716T:p.T572T,ENSG00000204410:ENST00000375703:exon19:c.C1716T:p.T572T,ENSG00000204410:ENST00000375740:exon19:c.C1767T:p.T589T,ENSG00000204410:ENST00000375742:exon19:c.C1767T:p.T589T,ENSG00000204410:ENST00000375750:exon19:c.C1716T:p.T572T,ENSG00000204410:ENST00000375755:exon19:c.C1716T:p.T572T,ENSG00000255152:ENST00000493662:exon19:c.C1767T:p.T589T,ENSG00000204410:ENST00000534153:exon19:c.C1767T:p.T589T Score=559;Name=lod=249 NA 6p21.33 NA NA NA NA rs3115672 0.04 0.04 0.038 0.033746 0.0746 NA 0.0274 0.0567 NA 0.08 NA 0.03 0.06 0.0675 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 1.017471 NA NA 0.108372 0.067862 NA 0.087 NA 6.4161946 1018 21 43161357 43161357 T C exonic RIPK4 NA nonsynonymous SNV RIPK4:NM_020639:exon8:c.A1996G:p.M666V exonic ENSG00000183421 NA nonsynonymous SNV ENSG00000183421:ENST00000332512:exon8:c.A1996G:p.M666V,ENSG00000183421:ENST00000542057:exon8:c.A1807G:p.M603V,ENSG00000183421:ENST00000544709:exon8:c.A1807G:p.M603V,ENSG00000183421:ENST00000352483:exon9:c.A2140G:p.M714V Score=346;Name=lod=34 NA 21q22.3 Score=845;Name=V$ARP1_01 NA NA NA rs3746891 0.97 0.97 0.965 0.956869 0.9791 0.9107 1 0.9985 0.8947 0.98 0.91 1 1 0.9652 1 0.59 T 0.0 B 0.0 B 0.238 N 1.000 P -0.48 N -0.03 T -1.014 T 0.000 T 0.034 -0.283 2.645 -0.094 0.005 0.638 2.795 -0.283167 NA 0.49 0.973017 0.994099 NA 0.949 NA 6.4160164 1018 8 120233910 120233910 C T exonic MAL2 NA synonymous SNV MAL2:NM_052886:exon3:c.C216T:p.S72S exonic ENSG00000147676 NA synonymous SNV ENSG00000147676:ENST00000276681:exon3:c.C216T:p.S72S NA NA 8q24.12 Score=928;Name=V$TGIF_01 NA NA NA rs34920533 0.05 0.05 0.049 0.0395367 0.0924 NA 0.0447 0.0272 0.0389 0.1 NA 0.05 0.03 0.0703 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 1.902993 1.902993 NA 0.088419 0.04431 NA 0.007 NA 6.4155476 1019 2 25141434 25141434 G A exonic ADCY3 NA synonymous SNV ADCY3:NM_004036:exon1:c.C423T:p.Y141Y exonic ENSG00000138031 NA synonymous SNV ENSG00000138031:ENST00000260600:exon1:c.C423T:p.Y141Y,ENSG00000138031:ENST00000435135:exon2:c.C423T:p.Y141Y Score=500;Name=lod=144 NA 2p23.3 NA NA NA NA rs61732745 0.1 0.1 0.1 0.101038 0.0835 0.0446 0.0865 0.2179 0.0297 0.08 0.03 0.1 0.22 0.0775 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608718 NA NA 0.09093 0.20699 NA 0.159 NA 6.4147366 1019 X 38144856 38144856 G A exonic RPGR NA synonymous SNV RPGR:NM_001034853:exon15:c.C3396T:p.N1132N exonic ENSG00000156313 NA synonymous SNV ENSG00000156313:ENST00000378505:exon15:c.C3396T:p.N1132N NA NA Xp11.4 NA NA NA NA rs12687163 0.23 0.23 0.23529 NA NA NA NA NA NA 0.08 0.59 0.17 0.08 0.1657 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.640413 NA NA 0.086653 0.104879 NA 0.13 CLINSIG=probable-non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000132610.1;CLNDSDB=.;CLNDSDBID=. 6.4143136 1019 1 89474818 89474818 A G exonic GBP3 NA nonsynonymous SNV GBP3:NM_018284:exon10:c.T1471C:p.C491R exonic ENSG00000117226 NA nonsynonymous SNV ENSG00000117226:ENST00000445969:exon3:c.T211C:p.C71R,ENSG00000117226:ENST00000370481:exon10:c.T1471C:p.C491R NA NA 1p22.2 NA NA NA NA rs17433780 0.27 0.27 0.28 0.260184 0.3201 0.2113 0.2637 0.2587 0.2485 0.32 0.21 0.3 0.25 0.2829 0.32 1 T 0.0 B 0.0 B 0.046 N 1.000 P -2.61 N 4.7 T -1.046 T 0.000 T 0.252 -2.172 0.005 1.68 0.025 0.409 5.974 -2.172454 NA 1 0.316512 0.255334 NA 0.348 NA 6.4138214 1019 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 1019 6 107391213 107391213 C T exonic BEND3 NA synonymous SNV BEND3:NM_001080450:exon5:c.G1182A:p.T394T exonic ENSG00000178409 NA synonymous SNV ENSG00000178409:ENST00000369042:exon4:c.G1182A:p.T394T,ENSG00000178409:ENST00000429433:exon5:c.G1182A:p.T394T Score=439;Name=lod=81 NA 6q21 NA NA NA NA rs3814072 0.07 0.07 0.08 0.0686901 0.0934 0.0585 0.0764 0.0598 0.0603 0.09 0.05 0.08 0.06 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 0.150228 NA NA 0.083605 0.073082 NA 0.152 NA 6.4131616 1019 11 20065779 20065779 C G exonic NAV2 NA nonsynonymous SNV NAV2:NM_001111019:exon4:c.C418G:p.P140A,NAV2:NM_001111018:exon13:c.C2968G:p.P990A,NAV2:NM_145117:exon13:c.C3160G:p.P1054A,NAV2:NM_182964:exon13:c.C3160G:p.P1054A,NAV2:NM_001244963:exon14:c.C3229G:p.P1077A exonic ENSG00000166833 NA nonsynonymous SNV ENSG00000166833:ENST00000311043:exon3:c.C418G:p.P140A,ENSG00000166833:ENST00000525322:exon3:c.C418G:p.P140A,ENSG00000166833:ENST00000530408:exon4:c.C418G:p.P140A,ENSG00000166833:ENST00000533917:exon4:c.C418G:p.P140A,ENSG00000166833:ENST00000349880:exon13:c.C3160G:p.P1054A,ENSG00000166833:ENST00000360655:exon13:c.C2968G:p.P990A,ENSG00000166833:ENST00000396085:exon13:c.C3160G:p.P1054A,ENSG00000166833:ENST00000396087:exon14:c.C3229G:p.P1077A,ENSG00000166833:ENST00000527559:exon15:c.C3016G:p.P1006A,ENSG00000166833:ENST00000540292:exon15:c.C3022G:p.P1008A Score=329;Name=lod=29 NA 11p15.1 NA NA NA NA rs3802800 0.88 0.88 0.884 0.88139 0.9861 0.9484 0.8876 0.6664 0.9908 0.99 0.94 0.91 0.63 0.9509 0.99 . . 0.009 B 0.006 B 0.088 N 0.362 P 0.805 L 1.68 T -0.990 T 0.000 T 0.189 2.37 13.88 2.17 0.631 0.943 11.574 2.36973 2.36973 0.49 0.983256 0.711757 NA 0.841 NA 6.4130774 1019 16 70710858 70710858 C T exonic MTSS1L NA synonymous SNV MTSS1L:NM_138383:exon10:c.G756A:p.S252S exonic ENSG00000132613 NA synonymous SNV ENSG00000132613:ENST00000338779:exon10:c.G756A:p.S252S NA NA 16q22.1 Score=872;Name=V$AP4_01 NA NA NA rs59984573 0.07 0.07 0.074 0.0652955 0.1004 0.1081 0.0749 0.0091 0.0542 0.1 0.09 0.07 0.02 0.0705 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 0.959732 NA NA 0.082907 0.020701 NA 0.051 NA 6.4128596 1019 3 45996761 45996761 G A exonic FYCO1 NA synonymous SNV FYCO1:NM_024513:exon14:c.C3924T:p.L1308L exonic ENSG00000163820 NA synonymous SNV ENSG00000163820:ENST00000535325:exon13:c.C3924T:p.L1308L,ENSG00000163820:ENST00000296137:exon14:c.C3924T:p.L1308L Score=300;Name=lod=22 NA 3p21.31 NA NA NA NA rs1463680 0.86 0.86 0.867 0.867212 0.7435 0.9544 0.8401 0.9009 0.8783 0.77 0.95 0.84 0.91 0.7921 0.95 . . . . . . . . 0.000 P . . . . -1.030 T 0.000 T . 0.777 8.103 -5.97 -0.777 -0.921 9.454 0.776982 NA NA 0.719302 0.871766 NA 0.826 NA 6.4117646 1019 5 176005477 176005477 C T exonic CDHR2 NA synonymous SNV CDHR2:NM_001171976:exon16:c.C1686T:p.D562D,CDHR2:NM_017675:exon16:c.C1686T:p.D562D exonic ENSG00000074276 NA synonymous SNV ENSG00000074276:ENST00000506348:exon15:c.C1686T:p.D562D,ENSG00000074276:ENST00000261944:exon16:c.C1686T:p.D562D,ENSG00000074276:ENST00000510636:exon16:c.C1686T:p.D562D Score=313;Name=lod=25 NA 5q35.2 NA Name=E2F4,c-Myc,Rad21,Max,SMC3_(ab9263),ZNF263,TBP,E2F6,CTCF,E2F6_(H-50),TCF12,Ini1,HA-E2F1,CTCF_(SC-5916),CTCF_(C-20) Name=98 NA rs2358747 0.67 0.67 0.686 0.653554 0.7535 0.5516 0.7651 0.5893 0.6636 0.76 0.54 0.78 0.62 0.7243 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 -0.818231 NA NA 0.778953 0.615751 NA 0.667 NA 6.4099136 1019 8 144808747 144808747 G A exonic FAM83H NA synonymous SNV FAM83H:NM_198488:exon5:c.C2884T:p.L962L exonic ENSG00000180921 NA synonymous SNV ENSG00000180921:ENST00000388913:exon5:c.C2884T:p.L962L Score=425;Name=lod=71 NA 8q24.3 Score=759;Name=V$PAX6_01 NA Name=3 NA rs11136321 0.56 0.56 0.566 0.529153 0.7952 0.4464 0.6614 0.2156 0.6708 0.8 0.45 0.68 0.25 0.6815 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052071 NA NA 0.780106 0.358726 NA 0.471 NA 6.4098606 1019 2 85808737 85808737 A G exonic VAMP8 NA synonymous SNV VAMP8:NM_003761:exon3:c.A201G:p.R67R exonic ENSG00000118640 NA synonymous SNV ENSG00000118640:ENST00000263864:exon3:c.A201G:p.R67R,ENSG00000118640:ENST00000432071:exon3:c.A123G:p.R41R Score=552;Name=lod=234 NA 2p11.2 Score=895;Name=V$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 1019 15 42631976 42631976 G A exonic GANC NA synonymous SNV GANC:NM_198141:exon17:c.G1953A:p.K651K exonic ENSG00000214013 NA synonymous SNV ENSG00000214013:ENST00000318010:exon17:c.G1953A:p.K651K Score=499;Name=lod=142 NA 15q15.1 NA NA NA NA rs35039186 0.07 0.07 0.068 0.0944489 0.0845 0.002 0.062 0.1399 0.1616 0.08 0.0035 0.08 0.11 0.0932 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1417 NA NA 0.0806 0.139582 ID=COSM54400;OCCURENCE=1(central_nervous_system) 0.051 NA 6.4083666 1019 15 42652099 42652099 T C exonic CAPN3 NA synonymous SNV CAPN3:NM_000070:exon1:c.T96C:p.T32T,CAPN3:NM_024344:exon1:c.T96C:p.T32T,CAPN3:NM_173087:exon1:c.T96C:p.T32T exonic ENSG00000092529 NA synonymous SNV ENSG00000092529:ENST00000318023:exon1:c.T96C:p.T32T,ENSG00000092529:ENST00000349748:exon1:c.T96C:p.T32T,ENSG00000092529:ENST00000357568:exon1:c.T96C:p.T32T,ENSG00000092529:ENST00000397163:exon1:c.T96C:p.T32T NA NA 15q15.1 NA NA NA NA rs1801496 0.07 0.07 0.056 0.0942492 0.0845 0.002 0.062 0.1392 0.1616 0.08 0.01 0.08 0.11 0.0932 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.22334 NA NA 0.0806 0.138675 NA 0.051 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078104.2;CLNDSDB=.;CLNDSDBID=. 6.4083666 1019 19 45923653 45923653 A G exonic ERCC1 NA synonymous SNV ERCC1:NM_202001:exon3:c.T354C:p.N118N,ERCC1:NM_001166049:exon4:c.T354C:p.N118N,ERCC1:NM_001983:exon4:c.T354C:p.N118N exonic ENSG00000012061 NA synonymous SNV ENSG00000012061:ENST00000589381:exon2:c.T138C:p.N46N,ENSG00000012061:ENST00000013807:exon3:c.T354C:p.N118N,ENSG00000012061:ENST00000423698:exon3:c.T138C:p.N46N,ENSG00000012061:ENST00000591636:exon3:c.T354C:p.N118N,ENSG00000012061:ENST00000300853:exon4:c.T354C:p.N118N,ENSG00000012061:ENST00000340192:exon4:c.T354C:p.N118N,ENSG00000012061:ENST00000589165:exon4:c.T354C:p.N118N,ENSG00000012061:ENST00000589214:exon4:c.T354C:p.N118N,ENSG00000012061:ENST00000592023:exon4:c.T354C:p.N118N,ENSG00000012061:ENST00000592083:exon5:c.T354C:p.N118N NA NA 19q13.32 Score=811;Name=V$GRE_C Name=ZNF263 NA NA rs11615 0.64 0.64 0.663 0.66893 0.3777 0.7381 0.6124 0.9629 0.5399 0.4 0.72 0.58 0.96 0.5085 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.662203 NA NA 0.372209 0.86768 NA 0.681 NA 6.4082576 1019 7 142749737 142749737 C T exonic OR6V1 NA synonymous SNV OR6V1:NM_001001667:exon1:c.C300T:p.Y100Y exonic ENSG00000225781 NA synonymous SNV ENSG00000225781:ENST00000418316:exon1:c.C300T:p.Y100Y Score=340;Name=lod=32 NA 7q34 NA NA NA NA rs17164103 0.14 0.14 0.153 0.137181 0.0815 0.0347 0.0836 0.323 0.0869 0.07 0.04 0.1 0.38 0.0942 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.779637 NA NA 0.083021 0.264678 NA 0.152 NA 6.4079456 1019 4 54011603 54011603 C T exonic SCFD2 NA synonymous SNV SCFD2:NM_152540:exon5:c.G1458A:p.T486T exonic ENSG00000184178 NA synonymous SNV ENSG00000184178:ENST00000388940:exon5:c.G1458A:p.T486T,ENSG00000184178:ENST00000401642:exon5:c.G1458A:p.T486T NA NA 4q12 Score=781;Name=V$PAX2_01 NA NA NA rs17082453 0.12 0.12 0.099 0.127196 0.0765 0.2321 0.1715 0.0144 0.1922 0.08 0.23 0.18 0.03 0.1148 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.61063 NA NA 0.06814 0.023604 NA 0.065 NA 6.4072266 1019 1 234606998 234606998 A G exonic TARBP1 NA synonymous SNV TARBP1:NM_005646:exon3:c.T1035C:p.H345H exonic ENSG00000059588 NA synonymous SNV ENSG00000059588:ENST00000040877:exon3:c.T1035C:p.H345H Score=515;Name=lod=165 NA 1q42.2 NA NA NA NA rs3754307 0.28 0.28 0.24 0.29393 0.0487 0.749 0.2522 0.1157 0.3476 0.05 0.74 0.23 0.12 0.1655 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066803 NA NA 0.045582 0.112903 NA 0.188 NA 6.4068846 1019 2 170402752 170402752 T C exonic FASTKD1 NA synonymous SNV FASTKD1:NM_024622:exon8:c.A1677G:p.S559S exonic ENSG00000138399 NA synonymous SNV ENSG00000138399:ENST00000453153:exon8:c.A1677G:p.S559S,ENSG00000138399:ENST00000453929:exon8:c.A1677G:p.S559S Score=472;Name=lod=111 NA 2q31.1 NA NA NA NA rs2290010 0.1 0.1 0.087 0.11881 0.0676 0.2044 0.1009 0.0136 0.2382 0.06 0.22 0.11 0.02 0.1104 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.208518 NA NA 0.081996 0.030668 NA 0.058 NA 6.4066706 1019 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 1019 11 59224720 59224720 A G exonic OR4D6 NA nonsynonymous SNV OR4D6:NM_001004708:exon1:c.A287G:p.D96G exonic ENSG00000166884 NA nonsynonymous SNV ENSG00000166884:ENST00000300127:exon1:c.A287G:p.D96G NA NA 11q12.1 NA NA NA NA rs1453543 0.91 0.91 0.907 0.895767 0.9901 0.9435 0.853 0.7511 0.9755 0.99 0.94 0.87 0.77 0.9488 0.99 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.98 N 5.23 T -0.968 T 0.000 T 0.062 -0.434 1.981 6.0 1.560 0.635 14.306 -0.434175 NA 1 0.988126 0.790095 NA 0.855 NA 6.4063074 1019 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 1020 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 1020 7 137600690 137600690 C T exonic CREB3L2 NA nonsynonymous SNV CREB3L2:NM_001253775:exon3:c.G388A:p.V130I,CREB3L2:NM_194071:exon3:c.G388A:p.V130I exonic ENSG00000182158 NA nonsynonymous SNV ENSG00000182158:ENST00000330387:exon3:c.G388A:p.V130I,ENSG00000182158:ENST00000420629:exon3:c.G367A:p.V123I,ENSG00000182158:ENST00000452463:exon3:c.G388A:p.V130I,ENSG00000182158:ENST00000456390:exon3:c.G388A:p.V130I,ENSG00000182158:ENST00000458726:exon3:c.G199A:p.V67I NA NA 7q33 NA NA NA NA rs273957 0.79 0.79 0.811 0.804313 0.6262 0.9435 0.6888 0.9743 0.6963 0.63 0.93 0.64 0.96 0.6893 0.96 0.3 T 0.0 B 0.0 B 0.121 N 1.000 P -0.755 N 0.97 T -0.976 T 0.000 T 0.075 -1.179 0.084 5.01 0.554 0.420 1.878 -1.178926 NA 0.53 0.613256 0.913754 NA 0.812 NA 6.4045774 1020 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 1020 4 42020142 42020142 A G exonic SLC30A9 NA nonsynonymous SNV SLC30A9:NM_006345:exon3:c.A289G:p.T97A exonic ENSG00000014824 NA nonsynonymous SNV ENSG00000014824:ENST00000264451:exon3:c.A289G:p.T97A,ENSG00000014824:ENST00000513699:exon3:c.A289G:p.T97A NA NA 4p13 NA NA NA NA rs2581423 0.98 0.98 0.98 0.979433 0.9732 0.996 0.9899 0.9675 0.9775 0.97 0.99 0.99 0.96 0.9793 0.99 1 T 0.0 B 0.0 B 0.177 N 1.000 P -1.04 N 2.1 T -0.975 T 0.000 T 0.015 -1.422 0.021 3.52 1.280 0.357 6.242 -1.422232 NA 1 0.976351 0.975023 NA 0.913 NA 6.4044824 1020 4 46314593 46314593 T C exonic GABRA2 NA synonymous SNV GABRA2:NM_001114175:exon4:c.A396G:p.K132K,GABRA2:NM_000807:exon5:c.A396G:p.K132K exonic ENSG00000151834 NA synonymous SNV ENSG00000151834:ENST00000356504:exon4:c.A396G:p.K132K,ENSG00000151834:ENST00000507069:exon4:c.A396G:p.K132K,ENSG00000151834:ENST00000510233:exon4:c.A396G:p.K132K,ENSG00000151834:ENST00000540012:exon4:c.A231G:p.K77K,ENSG00000151834:ENST00000381620:exon5:c.A396G:p.K132K,ENSG00000151834:ENST00000503806:exon5:c.A396G:p.K132K,ENSG00000151834:ENST00000506961:exon5:c.A396G:p.K132K,ENSG00000151834:ENST00000510861:exon5:c.A396G:p.K132K,ENSG00000151834:ENST00000514090:exon5:c.A396G:p.K132K,ENSG00000151834:ENST00000515082:exon5:c.A396G:p.K132K Score=700;Name=lod=930 NA 4p12 NA NA NA Score=136;Name=1730553_0_+_136 rs279858 0.43 0.43 0.369 0.363019 0.4284 0.5327 0.4683 0.2262 0.2311 0.46 0.5 0.5 0.26 0.398 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.18133 NA NA 0.436381 0.262823 ID=COSM1178493;OCCURENCE=1(prostate) 0.406 NA 6.4038856 1020 1 114515717 114515717 G A exonic HIPK1 NA synonymous SNV HIPK1:NM_181358:exon14:c.G2034A:p.A678A,HIPK1:NM_198269:exon15:c.G2094A:p.A698A,HIPK1:NM_198268:exon16:c.G3216A:p.A1072A exonic ENSG00000163349 NA synonymous SNV ENSG00000163349:ENST00000406344:exon13:c.G2034A:p.A678A,ENSG00000163349:ENST00000369553:exon14:c.G2034A:p.A678A,ENSG00000163349:ENST00000340480:exon15:c.G2094A:p.A698A,ENSG00000163349:ENST00000369554:exon15:c.G3081A:p.A1027A,ENSG00000163349:ENST00000369555:exon15:c.G3081A:p.A1027A,ENSG00000163349:ENST00000369558:exon16:c.G3216A:p.A1072A,ENSG00000163349:ENST00000369561:exon16:c.G3114A:p.A1038A,ENSG00000163349:ENST00000426820:exon16:c.G3216A:p.A1072A Score=605;Name=lod=385 NA 1p13.2 NA NA NA NA rs2358996 0.49 0.49 0.497 0.486222 0.4314 0.5238 0.4366 0.5469 0.4571 0.43 0.53 0.43 0.57 0.4156 0.57 . . . . . . . . 0.000 P . . . . -0.988 T 0.019 T . 0.663 7.551 -0.011 -0.012 -0.289 0.493 0.662757 NA NA 0.415814 0.509759 NA 0.551 NA 6.4038526 1020 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 1020 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 1020 5 112328377 112328377 A G exonic DCP2 NA synonymous SNV DCP2:NM_001242377:exon4:c.A342G:p.L114L,DCP2:NM_152624:exon4:c.A342G:p.L114L exonic ENSG00000172795 NA synonymous SNV ENSG00000172795:ENST00000389063:exon4:c.A342G:p.L114L,ENSG00000172795:ENST00000515408:exon4:c.A342G:p.L114L Score=486;Name=lod=126 NA 5q22.2 NA NA NA NA rs3733969 0.78 0.78 0.803 0.76877 0.7485 0.7629 0.7752 0.8018 0.7464 0.75 0.82 0.75 0.8 0.7585 0.82 . . . . . . . . 0.000 P . . . . -1.028 T 0.000 T . 1.104 9.504 4.73 0.733 0.696 8.480 1.104063 NA NA 0.757558 0.819482 NA 0.732 NA 6.4021086 1020 12 6172202 6172202 T C exonic VWF NA nonsynonymous SNV VWF:NM_000552:exon13:c.A1451G:p.H484R exonic ENSG00000110799 NA nonsynonymous SNV ENSG00000110799:ENST00000261405:exon13:c.A1451G:p.H484R Score=436;Name=lod=79 NA 12p13.31 NA NA NA NA rs1800378 0.52 0.52 0.503 0.51877 0.6541 0.6667 0.5101 0.1437 0.7403 0.65 0.65 0.51 0.19 0.6212 0.66 1 T 0.017 B 0.025 B 0.221 N 0.000 P -0.79 N 0.4 T -0.939 T 0.000 T 0.063 -2.078 0.006 1.25 0.120 0.272 1.281 -2.078172 NA 1 0.65686 0.219246 ID=COSM431631;OCCURENCE=1(breast) 0.5 NA 6.4011734 1020 X 135474420 135474420 C A exonic GPR112 NA synonymous SNV GPR112:NM_153834:exon17:c.C7941A:p.T2647T exonic ENSG00000156920 NA synonymous SNV ENSG00000156920:ENST00000287534:exon9:c.C7200A:p.T2400T,ENSG00000156920:ENST00000394141:exon14:c.C7326A:p.T2442T,ENSG00000156920:ENST00000412101:exon14:c.C7326A:p.T2442T,ENSG00000156920:ENST00000370652:exon15:c.C7941A:p.T2647T,ENSG00000156920:ENST00000394143:exon17:c.C7941A:p.T2647T Score=455;Name=lod=94 NA Xq26.3 Score=851;Name=V$FAC1_01 NA NA NA rs1329546 0.72 0.72 0.69237 NA NA NA NA NA NA 0.6 0.92 0.76 0.65 0.6599 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 0.487621 NA NA 0.605678 0.687093 NA 0.42 NA 6.4010886 1020 19 57985566 57985566 G C exonic ZNF772 NA nonsynonymous SNV ZNF772:NM_001144068:exon4:c.C423G:p.C141W,ZNF772:NM_001024596:exon5:c.C546G:p.C182W exonic ENSG00000197128 NA nonsynonymous SNV ENSG00000197128:ENST00000427512:exon2:c.C210G:p.C70W,ENSG00000197128:ENST00000356584:exon4:c.C423G:p.C141W,ENSG00000197128:ENST00000343280:exon5:c.C546G:p.C182W NA NA 19q13.43 NA NA NA NA rs2074060 0.66 0.66 0.656 0.676917 0.6392 0.7014 0.719 0.6135 0.7464 0.64 0.72 0.7 0.61 0.6601 0.72 0.22 T 0.0 B 0.0 B . . 1.000 P 0.805 L 3.18 T -1.005 T 0.000 T 0.099 -2.311 0.004 -1.09 0.038 -1.716 1.126 -2.31084 NA 0.38 0.633256 0.614616 NA 0.71 NA 6.4007774 1020 8 41791283 41791283 G A exonic KAT6A NA synonymous SNV KAT6A:NM_006766:exon17:c.C4455T:p.S1485S,KAT6A:NM_001099412:exon18:c.C4455T:p.S1485S,KAT6A:NM_001099413:exon18:c.C4455T:p.S1485S exonic ENSG00000083168 NA synonymous SNV ENSG00000083168:ENST00000265713:exon17:c.C4455T:p.S1485S,ENSG00000083168:ENST00000396930:exon18:c.C4455T:p.S1485S,ENSG00000083168:ENST00000406337:exon18:c.C4455T:p.S1485S Score=512;Name=lod=160 NA 8p11.21 NA NA NA NA rs3739365 0.14 0.14 0.14 0.162141 0.0716 0.2321 0.183 0.0953 0.2587 0.08 0.23 0.15 0.11 0.1209 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.849465 NA NA 0.073605 0.099864 NA 0.094 NA 6.4005616 1020 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 1020 X 118678364 118678364 G A exonic CXorf56 NA synonymous SNV CXorf56:NM_001170570:exon3:c.C333T:p.G111G,CXorf56:NM_001170569:exon4:c.C228T:p.G76G,CXorf56:NM_022101:exon4:c.C375T:p.G125G exonic ENSG00000018610 NA synonymous SNV ENSG00000018610:ENST00000536133:exon3:c.C333T:p.G111G,ENSG00000018610:ENST00000320339:exon4:c.C228T:p.G76G,ENSG00000018610:ENST00000371594:exon4:c.C375T:p.G125G,ENSG00000018610:ENST00000476164:exon4:c.C375T:p.G125G,ENSG00000018610:ENST00000486230:exon4:c.C375T:p.G125G Score=563;Name=lod=260 NA Xq24 Score=980;Name=V$IK2_01 NA NA NA rs5910611 0.6 0.6 0.58744 NA NA NA NA NA NA 0.62 0.75 0.63 0.37 0.6373 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 1.006787 NA NA 0.629459 0.475098 NA 0.449 NA 6.3999076 1020 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 1020 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 1020 1 38188768 38188768 C T exonic EPHA10 NA synonymous SNV EPHA10:NM_001099439:exon10:c.G1905A:p.L635L exonic ENSG00000183317 NA synonymous SNV ENSG00000183317:ENST00000534097:exon4:c.G405A:p.L135L,ENSG00000183317:ENST00000330210:exon6:c.G390A:p.L130L,ENSG00000183317:ENST00000437645:exon6:c.G579A:p.L193L,ENSG00000183317:ENST00000540011:exon6:c.G390A:p.L130L,ENSG00000183317:ENST00000373048:exon10:c.G1905A:p.L635L,ENSG00000183317:ENST00000427468:exon10:c.G1905A:p.L635L Score=522;Name=lod=176 NA 1p34.3 NA NA NA NA rs17464871 0.06 0.06 0.048 0.0447284 0.1083 0.0278 0.0447 0.0174 0.0337 0.1 0.02 0.05 0.03 0.0659 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 -0.800344 NA NA 0.093468 0.032119 NA 0.109 NA 6.3989986 1020 7 31618008 31618008 A G exonic CCDC129 NA nonsynonymous SNV CCDC129:NM_194300:exon7:c.A1130G:p.H377R,CCDC129:NM_001257968:exon8:c.A1208G:p.H403R,CCDC129:NM_001257967:exon9:c.A1160G:p.H387R exonic ENSG00000180347 NA nonsynonymous SNV ENSG00000180347:ENST00000409210:exon6:c.A854G:p.H285R,ENSG00000180347:ENST00000407970:exon8:c.A1130G:p.H377R,ENSG00000180347:ENST00000451887:exon8:c.A1208G:p.H403R NA NA 7p14.3 NA NA NA NA rs10252720 0.85 0.85 0.941 0.952875 0.9761 0.9911 0.9827 0.882 0.9642 0.86 0.91 0.9 0.74 0.9748 0.98 . . 0.0 B 0.001 B . . 1.000 P -1.32 N 2.53 T -0.986 T 0.000 T 0.004 -0.981 0.289 -4.14 -1.191 -0.548 14.262 -0.981032 NA 1 0.983561 0.904822 NA 0.957 NA 6.3988724 1020 4 4204299 4204299 T C exonic OTOP1 NA synonymous SNV OTOP1:NM_177998:exon4:c.A606G:p.G202G exonic ENSG00000163982 NA synonymous SNV ENSG00000163982:ENST00000296358:exon4:c.A606G:p.G202G Score=463;Name=lod=102 NA 4p16.3 Score=866;Name=V$SREBP1_02 NA Name=3 NA rs2920182 0.76 0.76 0.75 0.815296 0.7177 0.7073 0.7507 0.9584 0.8793 0.72 0.67 0.74 0.94 0.7838 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 0.972006 NA NA 0.767155 0.938266 NA 0.725 NA 6.3980116 1020 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 1020 16 75590113 75590113 C G exonic TMEM231 NA synonymous SNV TMEM231:NM_001077416:exon1:c.G57C:p.R19R ncRNA_UTR5 ENSG00000205084 NA NA NA NA NA 16q23.1 NA Name=HA-E2F1,Pol2(phosphoS2),Pol2,RFX5_(N-494),Mxi1_(bHLH),SREBP1,Sin3Ak-20,SRF,SP1,c-Myc,YY1_(C-20),GTF2F1_(RAP-74),ZNF263,YY1,TBP,CCNT2,PAX5-N19 Name=148 NA rs3743602 0.22 0.22 0.199 0.197085 0.2654 0.2669 0.1499 0.1498 0.1524 0.26 0.24 0.19 0.15 0.3116 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.943958 1.943958 NA 0.19197 0.139039 NA 0.116 NA 6.3976966 1020 22 26173661 26173661 T C exonic MYO18B NA nonsynonymous SNV MYO18B:NM_032608:exon8:c.T1981C:p.W661R exonic ENSG00000133454 NA nonsynonymous SNV ENSG00000133454:ENST00000539302:exon7:c.T1981C:p.W661R,ENSG00000133454:ENST00000335473:exon8:c.T1981C:p.W661R,ENSG00000133454:ENST00000407587:exon8:c.T1981C:p.W661R,ENSG00000133454:ENST00000536101:exon8:c.T1981C:p.W661R Score=487;Name=lod=127 NA 22q12.1 NA NA NA NA rs5761170 0.92 0.92 0.923 0.932508 0.9861 0.8849 0.9856 0.9281 0.8947 0.96 0.84 0.98 0.9 0.9647 0.99 1 T 0.0 B 0.0 B 0.000 N 0.998 P . . -2.18 D -0.944 T 0.000 T 0.059 -2.192 0.005 -0.033 -0.026 0.713 6.001 -2.191719 NA 1 0.985161 0.943699 NA 0.913 NA 6.3973724 1020 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 1020 1 220330672 220330672 C T exonic RAB3GAP2 NA synonymous SNV RAB3GAP2:NM_012414:exon31:c.G3495A:p.L1165L exonic ENSG00000118873 NA synonymous SNV ENSG00000118873:ENST00000358951:exon31:c.G3495A:p.L1165L NA NA 1q41 NA NA NA NA rs11547779 0.06 0.06 0.046 0.0605032 0.0885 0.0496 0.0519 0.0076 0.1207 0.09 0.06 0.07 0.01 0.0876 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 0.682253 NA NA 0.093605 0.021562 NA 0.058 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000118107.2|RCV000127678.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.3969616 1020 8 6296550 6296550 G T exonic MCPH1 NA nonsynonymous SNV MCPH1:NM_001172574:exon6:c.G513T:p.R171S,MCPH1:NM_024596:exon6:c.G513T:p.R171S exonic ENSG00000147316 NA nonsynonymous SNV ENSG00000147316:ENST00000344683:exon6:c.G513T:p.R171S,ENSG00000147316:ENST00000519480:exon6:c.G513T:p.R171S NA NA 8p23.1 NA NA NA NA rs2442513 0.93 0.93 0.909 0.916933 0.9871 0.9851 0.9827 0.7405 0.9663 0.99 0.99 0.98 0.72 0.9662 0.99 0.79 T 0.0 B 0.0 B 0.631 N 1.000 P -1.245 N 3.78 T -1.032 T 0.000 T 0.082 -0.321 2.476 -4.59 -1.007 -0.292 5.881 -0.320674 NA 1 0.983447 0.797499 NA 0.913 NA 6.3965864 1020 17 45915788 45915788 T C exonic SCRN2 NA nonsynonymous SNV SCRN2:NM_001145023:exon7:c.A967G:p.M323V,SCRN2:NM_138355:exon7:c.A967G:p.M323V exonic ENSG00000141295 NA nonsynonymous SNV ENSG00000141295:ENST00000584123:exon6:c.A991G:p.M331V,ENSG00000141295:ENST00000290216:exon7:c.A967G:p.M323V,ENSG00000141295:ENST00000407215:exon7:c.A967G:p.M323V NA NA 17q21.32 Score=754;Name=V$MYOGNF1_01 NA NA NA rs7350974 0.98 0.98 0.992 0.983027 0.9831 0.998 0.915 0.9992 0.9939 0.99 1 0.93 1 0.9747 1 0.37 T 0.0 B 0.0 B 0.848 N 1.000 P -1.7 N 3.35 T -0.996 T 0.000 T 0.138 -0.705 0.956 2.45 0.040 -0.387 8.608 -0.704681 NA 0.29 0.980093 0.995902 NA 0.993 NA 6.3954404 1020 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 1021 9 118163563 118163563 C T exonic DEC1 NA nonsynonymous SNV DEC1:NM_017418:exon7:c.C179T:p.A60V exonic ENSG00000173077 NA nonsynonymous SNV ENSG00000173077:ENST00000374016:exon7:c.C179T:p.A60V NA NA 9q33.1 NA NA NA NA rs2269700 0.74 0.74 0.76 0.762181 0.6451 0.8492 0.6009 0.9115 0.7055 0.66 0.83 0.61 0.88 0.6778 0.88 0 D 0.0 B 0.0 B . . 1.000 P . . 0.41 T -1.004 T 0.000 T 0.009 0.51 6.767 -1.58 -0.628 0.236 0.09 0.510439 NA NA 0.615581 0.875624 NA 0.674 NA 6.3948524 1021 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=CtBP2,Rad21,CTCF_(SC-5916),CTCF_(C-20),CTCF,Pol2 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 1021 2 103149100 103149100 G A exonic SLC9A4 NA nonsynonymous SNV SLC9A4:NM_001011552:exon12:c.G2350A:p.G784S exonic ENSG00000180251 NA nonsynonymous SNV ENSG00000180251:ENST00000295269:exon12:c.G2350A:p.G784S NA NA 2q12.1 NA NA NA NA rs1014286 0.65 0.65 0.624 0.622404 0.675 0.5308 0.6816 0.6657 0.5624 0.68 0.53 0.7 0.7 0.6287 0.71 0.53 T 0.0 B 0.001 B 0.903 N 1.000 P 0.11 N 1.07 T -0.977 T 0.000 T 0.028 0.043 4.238 -11.0 -2.116 -0.514 9.557 0.043156 NA 0.55 0.635233 0.641171 NA 0.703 NA 6.3944004 1021 19 2251817 2251817 T C exonic AMH NA nonsynonymous SNV AMH:NM_000479:exon5:c.T1544C:p.V515A exonic ENSG00000104899 NA nonsynonymous SNV ENSG00000104899:ENST00000221496:exon5:c.T1544C:p.V515A NA NA 19p13.3 NA NA Name=22 NA rs10417628 0.99 0.99 0.988 0.990016 0.9851 1 0.9928 1 0.9693 0.99 1 0.99 1 0.9799 1 0.77 T 0.015 B 0.001 B 0.889 N 1.000 P -0.455 N -0.39 T -0.993 T 0.000 T 0.031 0.461 6.502 1.04 0.112 1.364 6.491 0.460903 NA 0.45 0.974574 0.996577 NA 0.072 NA 6.3937594 1021 4 169282355 169282355 T C exonic DDX60L NA nonsynonymous SNV DDX60L:NM_001012967:exon37:c.A4936G:p.M1646V exonic ENSG00000181381 NA nonsynonymous SNV ENSG00000181381:ENST00000260184:exon37:c.A4936G:p.M1646V,ENSG00000181381:ENST00000511577:exon37:c.A4936G:p.M1646V NA NA 4q32.3 NA NA NA NA rs2684348 0.6 0.6 0.571 0.578474 0.6441 0.75 0.6167 0.3707 0.5879 0.64 0.75 0.61 0.38 0.6378 0.75 0.2 T 0.01 B 0.006 B . . 1.000 P -0.345 N 2.35 T -1.037 T 0.000 T 0.088 -0.2 3.03 -2.12 -0.359 -0.934 3.161 -0.199862 NA 0.27 0.657682 0.409818 NA 0.543 NA 6.3937514 1021 11 46784697 46784697 A C exonic CKAP5 NA synonymous SNV CKAP5:NM_001008938:exon30:c.T3720G:p.G1240G,CKAP5:NM_014756:exon30:c.T3720G:p.G1240G exonic ENSG00000175216 NA synonymous SNV ENSG00000175216:ENST00000354558:exon29:c.T3720G:p.G1240G,ENSG00000175216:ENST00000312055:exon30:c.T3720G:p.G1240G,ENSG00000175216:ENST00000415402:exon30:c.T3720G:p.G1240G,ENSG00000175216:ENST00000529230:exon30:c.T3720G:p.G1240G Score=653;Name=lod=599 NA 11p11.2 NA NA NA NA rs7928445 0.12 0.12 0.124 0.127396 0.0875 0.001 0.049 0.3381 0.0695 0.09 0.0017 0.06 0.33 0.0935 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526001 NA NA 0.092231 0.308042 NA 0.138 NA 6.3934356 1021 20 31671628 31671628 C T exonic BPIFB4 NA synonymous SNV BPIFB4:NM_182519:exon3:c.C625T:p.L209L exonic ENSG00000186191 NA synonymous SNV ENSG00000186191:ENST00000375483:exon3:c.C625T:p.L209L Score=464;Name=lod=103 NA 20q11.21 NA NA NA NA rs2424944 0.07 0.07 0.072 0.0634984 0.0915 0.0466 0.0533 0.0666 0.0552 0.09 0.05 0.06 0.05 0.0786 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 0.972481 NA NA 0.103725 0.070227 NA 0.065 NA 6.3928416 1021 16 15850204 15850204 A G exonic MYH11 NA synonymous SNV MYH11:NM_002474:exon14:c.T1743C:p.A581A,MYH11:NM_022844:exon14:c.T1743C:p.A581A,MYH11:NM_001040113:exon15:c.T1764C:p.A588A,MYH11:NM_001040114:exon15:c.T1764C:p.A588A exonic ENSG00000133392 NA synonymous SNV ENSG00000133392:ENST00000300036:exon14:c.T1743C:p.A581A,ENSG00000133392:ENST00000338282:exon14:c.T1743C:p.A581A,ENSG00000133392:ENST00000576790:exon14:c.T1743C:p.A581A,ENSG00000133392:ENST00000396324:exon15:c.T1764C:p.A588A,ENSG00000133392:ENST00000452625:exon15:c.T1764C:p.A588A NA NA 16p13.11 NA Name=CTCF,TCF12,CTCF_(SC-5916),EBF1_(C-8),EBF Name=15 NA rs2272554 0.58 0.58 0.581 0.548123 0.4245 0.6647 0.3905 0.7481 0.3967 0.44 0.72 0.37 0.78 0.4437 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 0.600288 NA NA 0.405698 0.681611 NA 0.522 NA 6.3927686 1021 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 1021 15 67457335 67457335 A G exonic SMAD3 NA synonymous SNV SMAD3:NM_001145103:exon2:c.A177G:p.L59L,SMAD3:NM_005902:exon2:c.A309G:p.L103L exonic ENSG00000166949 NA nonsynonymous SNV ENSG00000166949:ENST00000559092:exon2:c.A254G:p.Y85C Score=670;Name=lod=705 NA 15q22.33 NA Name=Rad21,CTCF_(SC-5916),CTCF,Pol2 Name=54 NA rs1065080 0.85 0.85 0.855 0.834065 0.8608 0.7619 0.9135 0.8669 0.7802 0.86 0.81 0.89 0.87 0.8635 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 1.346629 1.346629 NA 0.883694 0.872785 NA 0.92 NA 6.392006 1021 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 1021 1 38186206 38186206 C G exonic EPHA10 NA synonymous SNV EPHA10:NM_001099439:exon13:c.G2229C:p.V743V exonic ENSG00000183317 NA synonymous SNV ENSG00000183317:ENST00000534097:exon7:c.G729C:p.V243V,ENSG00000183317:ENST00000330210:exon9:c.G714C:p.V238V,ENSG00000183317:ENST00000373048:exon13:c.G2229C:p.V743V,ENSG00000183317:ENST00000427468:exon13:c.G2229C:p.V743V NA NA 1p34.3 Score=832;Name=V$AP4_01 NA NA NA rs12726343 0.06 0.06 0.055 0.0447284 0.1083 0.0278 0.0447 0.0174 0.0337 0.1 0.02 0.05 0.03 0.074 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311882 NA NA 0.09265 0.033577 NA 0.109 NA 6.3917166 1021 5 54410120 54410120 A C exonic CDC20B NA nonsynonymous SNV CDC20B:NM_001145734:exon11:c.T1360G:p.S454A,CDC20B:NM_001170402:exon12:c.T1486G:p.S496A,CDC20B:NM_152623:exon12:c.T1474G:p.S492A exonic ENSG00000164287 NA nonsynonymous SNV ENSG00000164287:ENST00000322374:exon11:c.T1360G:p.S454A,ENSG00000164287:ENST00000296733:exon12:c.T1474G:p.S492A,ENSG00000164287:ENST00000381375:exon12:c.T1486G:p.S496A Score=459;Name=lod=98 NA 5q11.2 NA NA NA NA rs3104230 0.98 0.98 0.977 0.980831 0.9761 1 0.9899 0.9516 0.999 0.97 1 0.99 0.95 0.9835 1 1 T 0.0 B 0.0 B 0.174 N 0.000 P -0.425 N 0.33 T -0.945 T 0.000 T 0.042 -0.281 2.656 2.84 0.357 0.689 8.888 -0.280911 NA 1 0.982558 0.937585 NA 1 NA 6.3911754 1021 2 108875244 108875244 T C exonic SULT1C3 NA nonsynonymous SNV SULT1C3:NM_001008743:exon5:c.T581C:p.M194T exonic ENSG00000196228 NA nonsynonymous SNV ENSG00000196228:ENST00000329106:exon5:c.T581C:p.M194T,ENSG00000196228:ENST00000376700:exon5:c.T581C:p.M194T NA NA 2q12.3 NA NA NA NA rs6722745 0.53 0.53 0.522 0.508387 0.2753 0.7063 0.4712 0.6679 0.3548 0.3 0.77 0.46 0.65 0.3916 0.77 0.89 T 0.0 B 0.0 B 0.277 N 1.000 P -1.02 N 4.76 T -1.064 T 0.000 T 0.014 -1.294 0.039 0.643 -0.292 0.256 1.878 -1.29425 NA 0.67 0.27593 0.61961 NA 0.449 NA 6.3905034 1021 14 77691753 77691753 T C intronic TMEM63C NA NA NA intronic ENSG00000165548,ENSG00000259164 NA NA NA Score=251;Name=lod=14 NA 14q24.3 Score=783;Name=V$ISRE_01 NA Name=2 NA rs404728 0.15 0.15 0.127 0.155751 0.2008 0.1944 0.1599 0.0522 0.2065 0.21 0.16 0.14 0.07 0.1979 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.296013 2.296013 NA 0.212011 0.064354 NA 0.312 NA 6.389289 1021 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 1021 22 43203137 43203137 C T exonic ARFGAP3 NA synonymous SNV ARFGAP3:NM_001142293:exon13:c.G1221A:p.S407S,ARFGAP3:NM_014570:exon14:c.G1353A:p.S451S exonic ENSG00000242247 NA synonymous SNV ENSG00000242247:ENST00000429508:exon12:c.G1137A:p.S379S,ENSG00000242247:ENST00000437119:exon13:c.G1221A:p.S407S,ENSG00000242247:ENST00000263245:exon14:c.G1353A:p.S451S NA NA 22q13.2 NA NA NA NA rs738535 0.3 0.3 0.286 0.310104 0.4364 0.0853 0.366 0.289 0.4008 0.42 0.06 0.41 0.29 0.3894 0.45 . . . . . . . . 0.000 P . . . . -0.900 T 0.000 T . -1.254 0.05 -6.15 -0.428 -0.630 1.603 -1.25378 NA NA 0.452558 0.348389 NA 0.355 NA 6.3883086 1021 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 1021 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 1021 1 248790075 248790075 A G exonic OR2T11 NA nonsynonymous SNV OR2T11:NM_001001964:exon1:c.T355C:p.C119R exonic ENSG00000183130 NA nonsynonymous SNV ENSG00000183130:ENST00000330803:exon1:c.T355C:p.C119R Score=480;Name=lod=119 NA 1q44 NA NA NA NA rs1892443 0.92 0.92 0.897 0.912939 0.9861 1 0.9741 0.6997 0.9928 0.99 1 0.98 0.67 0.9688 1 1 T 0.0 B 0.0 B 0.000 N 0.531 P -2.925 N 3.55 T -1.022 T 0.000 T 0.017 -2.771 0 2.4 0.487 -0.032 4.735 -2.770648 NA 1 0.991031 0.719863 NA 0.877 NA 6.3874024 1021 2 61575308 61575308 A G exonic USP34 NA nonsynonymous SNV USP34:NM_014709:exon15:c.T1982C:p.M661T exonic ENSG00000115464 NA nonsynonymous SNV ENSG00000115464:ENST00000398571:exon15:c.T1982C:p.M661T NA NA 2p15 NA NA NA NA rs6722430 0.99 0.99 0.988 0.993011 0.9801 1 0.9899 0.9992 0.9928 0.98 1 0.99 1 0.9853 1 0.65 T 0.0 B 0.0 B 0.543 N 1.000 P 0 N 1.2 T -0.980 T 0.000 T 0.013 0.074 4.398 3.83 0.777 1.301 7.453 0.073529 NA 1 0.980658 0.996367 NA 0.993 NA 6.3872754 1021 15 100331169 100331169 T C ncRNA_exonic DNM1P46 NA NA NA ncRNA_exonic ENSG00000182397 NA NA NA NA NA 15q26.3 NA Name=TCF4 Name=14 NA rs1060458 0.09 0.09 0.069 0.108826 0.0944 0.0575 0.0735 0.1203 0.1861 0.1 0.05 0.09 0.12 0.0952 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 -0.503964 NA NA 0.089905 0.109589 NA 0.101 NA 6.3871616 1021 3 184290348 184290348 G A exonic EPHB3 NA synonymous SNV EPHB3:NM_004443:exon3:c.G240A:p.V80V exonic ENSG00000182580 NA synonymous SNV ENSG00000182580:ENST00000330394:exon3:c.G240A:p.V80V Score=480;Name=lod=119 NA 3q27.1 NA NA NA NA rs9862375 0.07 0.07 0.076 0.057508 0.1074 NA 0.072 0.0877 0.0143 0.1 NA 0.07 0.1 0.0748 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 0.853883 NA NA 0.097326 0.086019 NA 0.13 NA 6.3871406 1021 22 50699668 50699668 A G exonic MAPK12 NA synonymous SNV MAPK12:NM_002969:exon2:c.T183C:p.P61P exonic ENSG00000188130 NA synonymous SNV ENSG00000188130:ENST00000215659:exon2:c.T183C:p.P61P,ENSG00000188130:ENST00000395778:exon2:c.T183C:p.P61P Score=639;Name=lod=529 NA 22q13.33 NA Name=HEY1,E2F6_(H-50),E2F6,Pol2,PAX5-C20,Nrf1,c-Myc,Max Name=126 NA rs2272857 0.68 0.68 0.672 0.671126 0.7445 0.5645 0.7493 0.6551 0.6718 0.74 0.58 0.79 0.63 0.7657 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 2.33825 2.33825 NA 0.769446 0.678376 ID=COSM445165,COSM1484338;OCCURENCE=1(breast) 0.529 NA 6.3870206 1021 1 175375802 175375802 T C exonic TNR NA nonsynonymous SNV TNR:NM_003285:exon3:c.A49G:p.I17V exonic ENSG00000116147 NA nonsynonymous SNV ENSG00000116147:ENST00000367674:exon3:c.A49G:p.I17V,ENSG00000116147:ENST00000263525:exon4:c.A49G:p.I17V NA NA 1q25.1 NA NA NA NA rs859398 0.72 0.72 0.727 0.722045 0.6302 0.8194 0.7781 0.7443 0.6462 0.62 0.82 0.73 0.74 0.6745 0.82 1 T 0.0 B 0.0 B 0.006 N 1.000 P -0.805 N 1.84 T -0.970 T 0.000 T 0.052 -0.759 0.791 3.69 0.727 0.493 5.502 -0.758951 NA 1 0.641977 0.740581 NA 0.761 NA 6.3866564 1021 1 21024901 21024901 C T exonic KIF17 NA nonsynonymous SNV KIF17:NM_001122819:exon6:c.G1204A:p.V402M,KIF17:NM_020816:exon6:c.G1204A:p.V402M exonic ENSG00000117245 NA nonsynonymous SNV ENSG00000117245:ENST00000247986:exon6:c.G1204A:p.V402M,ENSG00000117245:ENST00000375044:exon6:c.G904A:p.V302M,ENSG00000117245:ENST00000400463:exon6:c.G1204A:p.V402M NA NA 1p36.12 NA NA NA NA rs522496 0.62 0.62 0.628 0.596845 0.6869 0.6498 0.719 0.4455 0.5675 0.69 0.63 0.68 0.46 0.621 0.69 0.18 T 0.006 B 0.008 B 0.914 N 1.000 P -0.55 N -0.51 T -0.918 T 0.000 T 0.035 0.526 6.852 2.87 0.079 0.196 7.644 0.526466 NA 0.39 0.63907 0.498411 ID=COSM1338584;OCCURENCE=1(large_intestine) 0.493 NA 6.3863634 1021 16 11852354 11852354 A C exonic ZC3H7A NA synonymous SNV ZC3H7A:NM_014153:exon20:c.T2361G:p.V787V exonic ENSG00000122299 NA synonymous SNV ENSG00000122299:ENST00000571198:exon18:c.T2091G:p.V697V,ENSG00000122299:ENST00000396516:exon19:c.T2361G:p.V787V,ENSG00000122299:ENST00000355758:exon20:c.T2361G:p.V787V Score=649;Name=lod=578 NA 16p13.13 NA Name=FOXA1_(SC-101058),FOXA1_(C-20),HNF4A_(H-171),SP1,FOXA2_(SC-6554) NA NA rs8743 0.53 0.53 0.509 0.533147 0.4085 0.5863 0.5504 0.6407 0.4489 0.4 0.6 0.57 0.62 0.4474 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.046293 2.046293 NA 0.424651 0.587164 NA 0.507 NA 6.3861156 1021 11 66083782 66083782 G A exonic CD248 NA synonymous SNV CD248:NM_020404:exon1:c.C717T:p.N239N exonic ENSG00000174807 NA synonymous SNV ENSG00000174807:ENST00000311330:exon1:c.C717T:p.N239N Score=429;Name=lod=74 NA 11q13.2 NA NA Name=18 NA rs3741368 0.31 0.31 0.261 0.255391 0.4463 0.2272 0.5303 0.0378 0.1871 0.44 0.24 0.51 0.06 0.3889 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745732 NA NA 0.446179 0.100682 ID=COSM429643;OCCURENCE=1(breast) 0.268 NA 6.3852876 1021 11 19251826 19251826 G A exonic E2F8 NA synonymous SNV E2F8:NM_001256371:exon9:c.C1320T:p.L440L,E2F8:NM_001256372:exon9:c.C1320T:p.L440L,E2F8:NM_024680:exon9:c.C1320T:p.L440L exonic ENSG00000129173 NA synonymous SNV ENSG00000129173:ENST00000250024:exon9:c.C1320T:p.L440L,ENSG00000129173:ENST00000527884:exon9:c.C1320T:p.L440L Score=584;Name=lod=316 NA 11p15.1 NA NA NA NA rs11821023 0.1 0.1 0.107 0.103634 0.0915 0.1687 0.0519 0.1142 0.0716 0.09 0.14 0.06 0.1 0.0945 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.546642 NA NA 0.095504 0.12915 NA 0.094 NA 6.3851626 1022 15 99478225 99478225 G A exonic IGF1R NA synonymous SNV IGF1R:NM_000875:exon16:c.G3129A:p.E1043E exonic ENSG00000140443 NA synonymous SNV ENSG00000140443:ENST00000268035:exon16:c.G3129A:p.E1043E,ENSG00000140443:ENST00000558762:exon16:c.G3126A:p.E1042E Score=355;Name=lod=37 NA 15q26.3 Score=803;Name=V$AHR_01 NA NA NA rs2229765 0.37 0.37 0.379 0.335663 0.4294 0.3462 0.3646 0.2557 0.316 0.43 0.36 0.35 0.31 0.3972 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.751241 NA NA 0.455085 0.300182 NA 0.399 NA 6.3849816 1022 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=MafF_(M8194),TBP,MafK_(SC-477),MafK_(ab50322),Pol2-4H8 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 1022 3 391100 391100 A G exonic CHL1 NA nonsynonymous SNV CHL1:NM_001253388:exon8:c.A907G:p.T303A,CHL1:NM_001253387:exon9:c.A859G:p.T287A,CHL1:NM_006614:exon10:c.A907G:p.T303A exonic ENSG00000134121 NA nonsynonymous SNV ENSG00000134121:ENST00000397491:exon9:c.A859G:p.T287A,ENSG00000134121:ENST00000256509:exon10:c.A907G:p.T303A NA NA 3p26.3 NA NA NA NA rs13060847 0.87 0.87 0.844 0.851038 0.996 1 0.951 0.4644 1 1 1 0.95 0.48 0.9546 1 0.56 T 0.095 B 0.105 B 0.078 N 1.000 P 1.585 L -0.21 T -0.915 T 0.000 T 0.033 0.078 4.423 4.05 2.106 0.891 5.628 0.078292 NA 0.63 0.998488 0.523831 NA 0.826 NA 6.3842454 1022 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 1022 4 87809387 87809387 G T exonic C4orf36 NA nonsynonymous SNV C4orf36:NM_144645:exon3:c.C107A:p.S36Y exonic ENSG00000163633 NA nonsynonymous SNV ENSG00000163633:ENST00000295898:exon3:c.C107A:p.S36Y,ENSG00000163633:ENST00000504008:exon3:c.C107A:p.S36Y,ENSG00000163633:ENST00000506308:exon3:c.C107A:p.S36Y,ENSG00000163633:ENST00000473559:exon6:c.C107A:p.S36Y NA NA 4q21.3 NA NA NA NA rs1550931 0.9 0.9 0.89 0.883387 0.998 0.9127 0.9539 0.708 0.9223 1 0.92 0.96 0.66 0.957 1 1 T 0.0 B 0.0 B 0.004 N 1.000 P -0.895 N 1.66 T -0.969 T 0.000 T 0.305 -2.366 0.004 2.72 0.107 1.330 4.201 -2.366384 NA 1 0.994535 0.734226 NA 0.884 NA 6.3837984 1022 3 10967739 10967739 T C exonic SLC6A11 NA synonymous SNV SLC6A11:NM_014229:exon9:c.T1170C:p.P390P exonic ENSG00000132164 NA synonymous SNV ENSG00000132164:ENST00000254488:exon9:c.T1170C:p.P390P Score=573;Name=lod=285 NA 3p25.3 Score=711;Name=V$HOX13_01 NA NA NA rs2272395 0.36 0.36 0.376 0.332069 0.4642 0.1657 0.3098 0.4569 0.2147 0.45 0.17 0.35 0.48 0.3784 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.295859 1.295859 NA 0.440465 0.458466 NA 0.435 NA 6.3836016 1022 12 3389601 3389601 C T exonic TSPAN9 NA synonymous SNV TSPAN9:NM_001168320:exon5:c.C384T:p.T128T,TSPAN9:NM_006675:exon6:c.C384T:p.T128T exonic ENSG00000011105 NA synonymous SNV ENSG00000011105:ENST00000407263:exon4:c.C384T:p.T128T,ENSG00000011105:ENST00000537971:exon5:c.C384T:p.T128T,ENSG00000011105:ENST00000011898:exon6:c.C384T:p.T128T NA NA 12p13.32 Score=836;Name=V$GR_Q6 NA NA NA rs66501720 0.05 0.05 0.056 0.0423323 0.1093 NA 0.0562 0.0045 0.0583 0.11 NA 0.07 0.01 0.0768 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047657 NA NA 0.097209 0.023604 NA 0.174 NA 6.3833576 1022 10 26559571 26559571 G C exonic GAD2 NA synonymous SNV GAD2:NM_000818:exon10:c.G978C:p.G326G,GAD2:NM_001134366:exon10:c.G978C:p.G326G exonic ENSG00000136750 NA synonymous SNV ENSG00000136750:ENST00000259271:exon10:c.G978C:p.G326G,ENSG00000136750:ENST00000376261:exon10:c.G978C:p.G326G Score=518;Name=lod=170 NA 10p12.1 NA NA NA NA rs1556234 0.06 0.06 0.054 0.0451278 0.1064 0.0446 0.0576 0.0083 0.0235 0.11 0.04 0.06 0.01 0.072 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337604 NA NA 0.105116 0.022696 NA 0.087 NA 6.3831506 1022 18 76870397 76870397 G A exonic ATP9B NA synonymous SNV ATP9B:NM_198531:exon3:c.G336A:p.E112E exonic ENSG00000166377 NA synonymous SNV ENSG00000166377:ENST00000586672:exon2:c.G162A:p.E54E,ENSG00000166377:ENST00000307671:exon3:c.G336A:p.E112E,ENSG00000166377:ENST00000426216:exon3:c.G336A:p.E112E,ENSG00000166377:ENST00000458297:exon3:c.G180A:p.E60E,ENSG00000166377:ENST00000586366:exon3:c.G336A:p.E112E,ENSG00000166377:ENST00000586722:exon3:c.G336A:p.E112E Score=569;Name=lod=275 NA 18q23 NA NA NA NA rs492657 0.12 0.12 0.119 0.115415 0.1034 0.0228 0.0749 0.2882 0.0184 0.1 0.02 0.07 0.3 0.0861 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.046598 NA NA 0.09407 0.271448 NA 0.167 NA 6.3830966 1022 14 31647241 31647241 G A exonic HECTD1 NA synonymous SNV HECTD1:NM_015382:exon3:c.C360T:p.A120A exonic ENSG00000092148 NA synonymous SNV ENSG00000092148:ENST00000399332:exon3:c.C360T:p.A120A,ENSG00000092148:ENST00000553700:exon3:c.C360T:p.A120A,ENSG00000092148:ENST00000556224:exon3:c.C360T:p.A120A Score=746;Name=lod=1429 NA 14q12 Score=833;Name=V$GRE_C NA NA NA rs2274201 0.52 0.52 0.541 0.557907 0.4175 0.4405 0.6081 0.7496 0.5286 0.41 0.44 0.57 0.76 0.4726 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 0.970422 NA NA 0.394385 0.662599 NA 0.587 NA 6.3821816 1022 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=TBP,ZBTB7A_(SC-34508),YY1,c-Myc,ELF1_(SC-631),HEY1,TAF1,HMGN3,GABP,MafK_(ab50322),E2F6_(H-50),CHD2_(N-1250) 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 1022 11 117163824 117163824 C G exonic BACE1 NA synonymous SNV BACE1:NM_001207048:exon4:c.G486C:p.V162V,BACE1:NM_001207049:exon4:c.G411C:p.V137V,BACE1:NM_012104:exon5:c.G786C:p.V262V,BACE1:NM_138971:exon5:c.G654C:p.V218V,BACE1:NM_138972:exon5:c.G711C:p.V237V,BACE1:NM_138973:exon5:c.G579C:p.V193V exonic ENSG00000186318 NA synonymous SNV ENSG00000186318:ENST00000392937:exon4:c.G486C:p.V162V,ENSG00000186318:ENST00000510630:exon4:c.G411C:p.V137V,ENSG00000186318:ENST00000510915:exon4:c.G84C:p.V28V,ENSG00000186318:ENST00000313005:exon5:c.G786C:p.V262V,ENSG00000186318:ENST00000428381:exon5:c.G579C:p.V193V,ENSG00000186318:ENST00000445823:exon5:c.G654C:p.V218V,ENSG00000186318:ENST00000504995:exon5:c.G84C:p.V28V,ENSG00000186318:ENST00000513780:exon5:c.G711C:p.V237V,ENSG00000186318:ENST00000528053:exon5:c.G786C:p.V262V Score=566;Name=lod=267 NA 11q23.3 NA NA NA NA rs638405 0.51 0.51 0.496 0.553514 0.4076 0.6498 0.549 0.5363 0.6309 0.39 0.62 0.52 0.57 0.4821 0.62 . . . . . . . . 0.000 P . . . . -0.956 T 0.000 T . 1.322 10.34 0.58 0.414 0.011 1.386 1.322171 1.322171 NA 0.395717 0.519991 NA 0.594 NA 6.3812496 1022 13 23908034 23908034 A G exonic SACS NA synonymous SNV SACS:NM_014363:exon10:c.T9981C:p.A3327A exonic ENSG00000151835 NA synonymous SNV ENSG00000151835:ENST00000402364:exon8:c.T7731C:p.A2577A,ENSG00000151835:ENST00000382292:exon9:c.T9981C:p.A3327A,ENSG00000151835:ENST00000382298:exon10:c.T9981C:p.A3327A Score=620;Name=lod=442 NA 13q12.12 NA NA NA NA rs2737700 0.35 0.35 0.341 0.338658 0.4394 0.4127 0.3991 0.1233 0.407 0.44 0.4 0.39 0.13 0.4061 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.543688 NA NA 0.440554 0.173854 NA 0.457 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118235.2;CLNDSDB=.;CLNDSDBID=. 6.3806126 1022 20 24994275 24994275 G A exonic ACSS1 NA synonymous SNV ACSS1:NM_001252676:exon9:c.C1113T:p.N371N,ACSS1:NM_001252675:exon10:c.C1470T:p.N490N,ACSS1:NM_001252677:exon10:c.C1476T:p.N492N,ACSS1:NM_032501:exon10:c.C1476T:p.N492N exonic ENSG00000154930 NA synonymous SNV ENSG00000154930:ENST00000537502:exon8:c.C1227T:p.N409N,ENSG00000154930:ENST00000542618:exon9:c.C1113T:p.N371N,ENSG00000154930:ENST00000323482:exon10:c.C1476T:p.N492N,ENSG00000154930:ENST00000432802:exon10:c.C1476T:p.N492N NA NA 20p11.21 Score=803;Name=V$OLF1_01 NA NA NA rs6115001 0.07 0.07 0.063 0.0756789 0.0984 0.003 0.0677 0.1051 0.093 0.1 0.0017 0.06 0.11 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 1.080084 NA NA 0.10186 0.108261 NA 0.072 NA 6.3804066 1022 6 6174856 6174856 T C exonic F13A1 NA synonymous SNV F13A1:NM_000129:exon12:c.A1704G:p.E568E exonic ENSG00000124491 NA synonymous SNV ENSG00000124491:ENST00000264870:exon12:c.A1704G:p.E568E Score=403;Name=lod=58 NA 6p25.1 NA NA NA NA rs5986 0.07 0.07 0.063 0.0491214 0.1133 0.001 0.0735 0.0386 0.0297 0.12 0.0017 0.09 0.05 0.0732 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 -0.43132 NA NA 0.099884 0.054017 ID=COSM84958;OCCURENCE=1(pancreas) 0.051 NA 6.3802826 1022 19 56041255 56041255 C G exonic SBK2 NA nonsynonymous SNV SBK2:NM_001101401:exon4:c.G892C:p.A298P exonic ENSG00000187550 NA nonsynonymous SNV ENSG00000187550:ENST00000344158:exon3:c.G892C:p.A298P,ENSG00000187550:ENST00000413299:exon4:c.G892C:p.A298P NA NA 19q13.42 NA Name=ZBTB7A_(SC-34508) NA NA rs620251 0.96 0.96 0.978 0.964058 0.9891 0.8829 0.9654 0.9917 0.9836 0.99 0.9 0.98 0.99 0.9751 0.99 1 T 0.003 B 0.003 B 0.000 N 1.000 P -0.795 N -0.16 T -0.964 T 0.000 T 0.066 -1.214 0.065 0.193 -0.186 1.012 2.476 -1.214114 NA 1 0.988901 0.990426 NA 0.384 NA 6.3802324 1022 18 674320 674320 A G exonic ENOSF1 NA synonymous SNV ENOSF1:NM_001126123:exon15:c.T1071C:p.P357P,ENOSF1:NM_202758:exon15:c.T1338C:p.P446P,ENOSF1:NM_017512:exon16:c.T1317C:p.P439P exonic ENSG00000132199 NA synonymous SNV ENSG00000132199:ENST00000319815:exon8:c.T627C:p.P209P,ENSG00000132199:ENST00000580982:exon13:c.T1089C:p.P363P,ENSG00000132199:ENST00000340116:exon15:c.T1338C:p.P446P,ENSG00000132199:ENST00000383578:exon15:c.T1071C:p.P357P,ENSG00000132199:ENST00000251101:exon16:c.T1317C:p.P439P Score=516;Name=lod=166 NA 18p11.32 NA NA NA NA rs3744962 0.11 0.11 0.086 0.110024 0.0905 0.1855 0.2161 0.0204 0.0982 0.09 0.17 0.17 0.01 0.1076 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.884695 NA NA 0.088721 0.034271 NA 0.13 NA 6.3798456 1022 21 43412705 43412705 A G exonic ZBTB21 NA synonymous SNV ZBTB21:NM_020727:exon2:c.T1500C:p.N500N,ZBTB21:NM_001098402:exon3:c.T1500C:p.N500N,ZBTB21:NM_001098403:exon3:c.T1500C:p.N500N exonic ENSG00000173276 NA synonymous SNV ENSG00000173276:ENST00000398511:exon2:c.T1500C:p.N500N,ENSG00000173276:ENST00000310826:exon3:c.T1500C:p.N500N,ENSG00000173276:ENST00000398505:exon3:c.T1500C:p.N500N,ENSG00000173276:ENST00000398499:exon4:c.T1500C:p.N500N NA NA 21q22.3 Score=788;Name=V$ARNT_02 NA NA NA rs61751943 0.05 0.05 0.033 0.0283546 0.1034 NA 0.0346 0.0023 0.0112 0.12 NA 0.04 0.002 0.0771 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 -1.582475 NA NA 0.106512 0.024285 NA 0.007 NA 6.3796546 1022 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 1022 1 247151557 247151557 A G exonic ZNF695 NA nonsynonymous SNV ZNF695:NM_001204221:exon4:c.T260C:p.V87A,ZNF695:NM_020394:exon4:c.T260C:p.V87A exonic ENSG00000135747,ENSG00000197472 NA nonsynonymous SNV ENSG00000197472:ENST00000339986:exon4:c.T260C:p.V87A,ENSG00000197472:ENST00000366504:exon4:c.T260C:p.V87A,ENSG00000135747:ENST00000465049:exon4:c.T224C:p.V75A,ENSG00000197472:ENST00000479214:exon4:c.T224C:p.V75A,ENSG00000197472:ENST00000487338:exon4:c.T260C:p.V87A NA NA 1q44 NA Name=KAP1 NA NA rs2642992 0.66 0.66 0.623 0.625599 0.6412 0.9712 0.7392 0.2882 0.6288 0.64 0.98 0.71 0.28 0.6678 0.98 0.76 T 0.0 B 0.0 B . . 1.000 P -0.97 N 5.77 T -1.052 T 0.000 T 0.008 -0.911 0.415 0.459 -0.405 0.072 3.894 -0.911175 NA 0.37 0.64494 0.332967 ID=COSM1127064;OCCURENCE=1(prostate) 0.514 NA 6.3793934 1022 7 102743893 102743893 C T exonic NAPEPLD NA nonsynonymous SNV NAPEPLD:NM_001122838:exon5:c.G1165A:p.D389N,NAPEPLD:NM_198990:exon5:c.G1165A:p.D389N exonic ENSG00000161048 NA nonsynonymous SNV ENSG00000161048:ENST00000341533:exon5:c.G1165A:p.D389N,ENSG00000161048:ENST00000417955:exon5:c.G1165A:p.D389N,ENSG00000161048:ENST00000422589:exon5:c.G1165A:p.D389N,ENSG00000161048:ENST00000427257:exon5:c.G1165A:p.D389N,ENSG00000161048:ENST00000455523:exon5:c.G1384A:p.D462N,ENSG00000161048:ENST00000465647:exon5:c.G1165A:p.D389N NA NA 7q22.1 NA NA NA NA rs3181009 0.89 0.89 0.865 0.863618 0.998 1 0.9496 0.5113 1 1 1 0.93 0.55 0.9595 1 0.53 T 0.001 B 0.002 B 0.660 N 0.999 P 0.92 L 1.41 T -0.973 T 0.000 T 0.083 1.894 12.29 2.8 0.399 1.663 9.104 1.893667 1.893667 0.22 0.997325 0.590827 NA 0.819 NA 6.3785084 1022 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$AP4_01 Name=EBF1_(C-8),EBF NA NA rs2287854 0.57 0.57 0.566 0.573882 0.4006 0.7778 0.536 0.5696 0.5746 0.41 0.81 0.52 0.59 0.4783 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.843765 NA NA 0.409302 0.549932 NA 0.551 NA 6.3784646 1022 2 206480393 206480393 C T exonic PARD3B NA synonymous SNV PARD3B:NM_057177:exon22:c.C3267T:p.D1089D,PARD3B:NM_152526:exon22:c.C3288T:p.D1096D,PARD3B:NM_205863:exon22:c.C3171T:p.D1057D exonic ENSG00000116117 NA synonymous SNV ENSG00000116117:ENST00000349953:exon22:c.C3171T:p.D1057D,ENSG00000116117:ENST00000351153:exon22:c.C3267T:p.D1089D,ENSG00000116117:ENST00000358768:exon22:c.C3288T:p.D1096D,ENSG00000116117:ENST00000406610:exon23:c.C3474T:p.D1158D Score=499;Name=lod=142 NA 2q33.3 NA NA NA NA rs17682782 0.05 0.05 0.049 0.0345447 0.1083 NA 0.0447 0.0061 0.0256 0.11 NA 0.06 0.01 0.0745 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.376845 NA NA 0.105435 0.018228 NA 0.007 NA 6.3784316 1022 10 88768253 88768253 A G exonic AGAP11 NA nonsynonymous SNV AGAP11:NM_133447:exon12:c.A244G:p.I82V ncRNA_exonic ENSG00000151303,ENSG00000261011,ENSG00000271880 NA NA NA Score=669;Name=lod=698 NA 10q23.2 NA Name=FOXA1_(C-20),c-Myc,ERalpha_a Name=8 NA rs2641563 0.8 0.8 0.791 0.791134 0.7048 0.9325 0.7522 0.8585 0.6708 0.7 0.93 0.72 0.86 0.7313 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515727 NA NA 0.685565 0.833333 NA 0.283 NA 6.378335 1022 7 116435768 116435768 C T exonic MET NA synonymous SNV MET:NM_000245:exon20:c.C3858T:p.D1286D,MET:NM_001127500:exon20:c.C3912T:p.D1304D exonic ENSG00000105976 NA synonymous SNV ENSG00000105976:ENST00000539704:exon6:c.C468T:p.D156D,ENSG00000105976:ENST00000318493:exon20:c.C3912T:p.D1304D,ENSG00000105976:ENST00000397752:exon20:c.C3858T:p.D1286D NA NA 7q31.2 Score=896;Name=V$CREBP1CJUN_01 NA NA NA rs41736 0.37 0.37 0.353 0.352236 0.4414 0.4673 0.464 0.034 0.4928 0.44 0.53 0.43 0.05 0.4228 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062672 NA NA 0.424312 0.104078 ID=COSM150377;OCCURENCE=1(stomach) 0.239 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079492.1;CLNDSDB=.;CLNDSDBID=. 6.3781546 1022 12 4736677 4736677 G C exonic AKAP3 NA nonsynonymous SNV AKAP3:NM_006422:exon4:c.C1391G:p.T464S exonic ENSG00000111254 NA nonsynonymous SNV ENSG00000111254:ENST00000228850:exon4:c.C1391G:p.T464S,ENSG00000111254:ENST00000545990:exon5:c.C1391G:p.T464S NA NA 12p13.32 NA NA NA NA rs11063266 0.95 0.95 0.94 0.911542 0.996 0.9147 0.9769 0.8472 0.862 1 0.92 0.97 0.88 0.9626 1 0.59 T 0.001 B 0.002 B 0.768 N 1.000 P -1.39 N 3.4 T -0.971 T 0.000 T 0.029 -1.029 0.22 -11.0 -3.044 -4.329 11.026 -1.029425 NA 0.83 0.996744 0.856105 NA 0.942 NA 6.3779894 1022 12 4919267 4919267 A G exonic KCNA6 NA synonymous SNV KCNA6:NM_002235:exon1:c.A60G:p.G20G exonic ENSG00000151079 NA synonymous SNV ENSG00000151079:ENST00000280684:exon1:c.A60G:p.G20G,ENSG00000151079:ENST00000433855:exon1:c.A60G:p.G20G NA NA 12p13.32 NA Name=CTCF Name=3 NA rs758534 0.44 0.44 0.459 0.447085 0.4433 0.4395 0.4121 0.4576 0.4693 0.45 0.45 0.44 0.43 0.4368 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.715341 NA NA 0.408922 0.423953 NA 0.341 NA 6.3776446 1022 17 4495740 4495740 G A exonic SMTNL2 NA nonsynonymous SNV SMTNL2:NM_001114974:exon2:c.G484A:p.A162T,SMTNL2:NM_198501:exon2:c.G52A:p.A18T exonic ENSG00000188176 NA nonsynonymous SNV ENSG00000188176:ENST00000572951:exon1:c.G52A:p.A18T,ENSG00000188176:ENST00000338859:exon2:c.G52A:p.A18T,ENSG00000188176:ENST00000389313:exon2:c.G484A:p.A162T NA NA 17p13.2 NA NA NA NA rs12449695 0.36 0.36 0.349 0.331869 0.3131 0.5813 0.4467 0.1067 0.317 0.31 0.59 0.41 0.1 0.3378 0.59 0.31 T 0.038 B 0.006 B . . 1.000 P 1.15 L -1.41 T -0.934 T 0.000 T 0.203 1.566 11.19 -1.36 -0.051 0.375 1.038 1.566285 1.566285 0.54 0.305 0.131639 NA 0.304 NA 6.3774334 1022 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 1022 18 9119489 9119489 A T exonic NDUFV2 NA synonymous SNV NDUFV2:NM_021074:exon4:c.A201T:p.V67V exonic ENSG00000178127 NA synonymous SNV ENSG00000178127:ENST00000318388:exon4:c.A201T:p.V67V,ENSG00000178127:ENST00000400033:exon5:c.A210T:p.V70V NA NA 18p11.22 NA NA NA NA rs1129774 0.07 0.07 0.061 0.0750799 0.0915 0.002 0.0634 0.1536 0.0358 0.08 NA 0.09 0.14 0.085 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.048464 NA NA 0.112933 0.162733 NA 0.101 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117717.2;CLNDSDB=.;CLNDSDBID=. 6.3772336 1022 14 105935824 105935824 G A exonic MTA1 NA nonsynonymous SNV MTA1:NM_004689:exon19:c.G1834A:p.A612T exonic ENSG00000182979 NA nonsynonymous SNV ENSG00000182979:ENST00000426567:exon2:c.G70A:p.A24T,ENSG00000182979:ENST00000435036:exon10:c.G454A:p.A152T,ENSG00000182979:ENST00000434050:exon13:c.G1222A:p.A408T,ENSG00000182979:ENST00000405646:exon18:c.G1783A:p.A595T,ENSG00000182979:ENST00000406191:exon18:c.G1798A:p.A600T,ENSG00000182979:ENST00000331320:exon19:c.G1834A:p.A612T Score=513;Name=lod=162 NA 14q32.33 NA NA NA NA rs13707 0.88 0.88 0.869 0.854233 0.999 1 0.9669 0.466 1 1 1 0.96 0.49 0.9589 1 1 T 0.0 B 0.0 B 0.016 N 0.997 P -0.55 N 1.57 T -1.028 T 0.000 T 0.26 -0.616 1.261 0.854 -0.318 1.779 1.905 -0.615868 NA 0.64 0.998372 0.562273 NA 0.841 NA 6.3770614 1022 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 1022 15 34640218 34640218 C T exonic NUTM1 NA nonsynonymous SNV NUTM1:NM_175741:exon2:c.C65T:p.P22L exonic ENSG00000184507 NA nonsynonymous SNV ENSG00000184507:ENST00000333756:exon2:c.C65T:p.P22L,ENSG00000184507:ENST00000438749:exon2:c.C119T:p.P40L,ENSG00000184507:ENST00000537011:exon3:c.C149T:p.P50L NA NA 15q14 NA NA NA NA rs374230 0.9 0.9 0.873 0.877796 0.996 1 0.9597 0.5613 1 1 1 0.96 0.57 0.9635 1 0.64 T 0.001 B 0.002 B 0.917 N 1.000 P -1.905 N 2.95 T -0.975 T 0.000 T 0.09 -0.886 0.468 -5.94 -1.024 -0.105 0.879 -0.885743 NA 1 0.997557 0.623353 NA 0.899 NA 6.3762764 1022 16 48256602 48256602 T C exonic ABCC11 NA synonymous SNV ABCC11:NM_033151:exon5:c.A684G:p.Q228Q,ABCC11:NM_032583:exon6:c.A684G:p.Q228Q,ABCC11:NM_145186:exon6:c.A684G:p.Q228Q exonic ENSG00000121270 NA synonymous SNV ENSG00000121270:ENST00000394747:exon5:c.A684G:p.Q228Q,ENSG00000121270:ENST00000353782:exon6:c.A684G:p.Q228Q,ENSG00000121270:ENST00000356608:exon6:c.A684G:p.Q228Q,ENSG00000121270:ENST00000394748:exon6:c.A684G:p.Q228Q,ENSG00000121270:ENST00000537808:exon6:c.A684G:p.Q228Q Score=284;Name=lod=19 NA 16q12.1 NA NA NA NA rs16945974 0.12 0.12 0.119 0.134185 0.1024 0.0437 0.098 0.3132 0.044 0.1 0.02 0.11 0.29 0.1002 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229536 NA NA 0.087791 0.262727 NA 0.159 NA 6.3762756 1022 1 204587240 204587240 G A exonic LRRN2 NA synonymous SNV LRRN2:NM_201630:exon2:c.C1881T:p.D627D,LRRN2:NM_006338:exon3:c.C1881T:p.D627D exonic ENSG00000170382 NA synonymous SNV ENSG00000170382:ENST00000367175:exon1:c.C1881T:p.D627D,ENSG00000170382:ENST00000367177:exon2:c.C1881T:p.D627D,ENSG00000170382:ENST00000367176:exon3:c.C1881T:p.D627D Score=336;Name=lod=31 NA 1q32.1 Score=829;Name=V$NFKB_Q6 NA NA NA rs3747632 0.32 0.32 0.255 0.294129 0.4294 0.3383 0.5014 0.0318 0.317 0.43 0.31 0.47 0.03 0.4092 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.045246 NA NA 0.45186 0.096232 NA 0.254 NA 6.3762066 1022 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 1022 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 1022 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 1022 17 39659194 39659194 T C exonic KRT13 NA nonsynonymous SNV KRT13:NM_002274:exon4:c.A892G:p.T298A,KRT13:NM_153490:exon4:c.A892G:p.T298A exonic ENSG00000171401 NA nonsynonymous SNV ENSG00000171401:ENST00000246635:exon4:c.A892G:p.T298A,ENSG00000171401:ENST00000336861:exon4:c.A892G:p.T298A,ENSG00000171401:ENST00000587544:exon4:c.A892G:p.T298A NA NA 17q21.2 NA NA NA NA rs4796697 0.92 0.92 0.91 0.903954 0.995 0.999 0.9726 0.6717 0.9775 1 1 0.98 0.65 0.9685 1 0.28 T 0.008 B 0.034 B 0.425 N 1.000 P 0.815 L -1.05 T -0.964 T 0.000 T 0.091 -0.18 3.124 -3.22 -0.648 -2.022 1.056 -0.17997 NA 0.43 0.994419 0.7601 NA 0.884 NA 6.3754144 1023 14 23854155 23854155 G A exonic MYH6 NA synonymous SNV MYH6:NM_002471:exon35:c.C5259T:p.A1753A exonic ENSG00000197616 NA synonymous SNV ENSG00000197616:ENST00000356287:exon34:c.C5259T:p.A1753A,ENSG00000197616:ENST00000405093:exon35:c.C5259T:p.A1753A NA NA 14q11.2 NA NA NA NA rs8004990 0.05 0.05 0.053 0.0363419 0.1014 0.001 0.0389 0.0204 0.0256 0.11 NA 0.04 0.04 0.0749 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 -1.184835 NA NA 0.115814 0.031775 NA 0.051 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037528.1;CLNDSDB=.;CLNDSDBID=. 6.3745526 1023 5 52942197 52942197 A G exonic NDUFS4 NA synonymous SNV NDUFS4:NM_002495:exon3:c.A312G:p.R104R exonic ENSG00000164258 NA synonymous SNV ENSG00000164258:ENST00000296684:exon3:c.A312G:p.R104R,ENSG00000164258:ENST00000506765:exon3:c.A300G:p.R100R Score=645;Name=lod=558 NA 5q11.2 Score=681;Name=V$BRACH_01 NA NA NA rs31303 0.79 0.79 0.778 0.80012 0.7565 0.7946 0.8199 0.857 0.7597 0.75 0.74 0.8 0.88 0.7734 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.396172 1.396172 NA 0.762326 0.851339 NA 0.819 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117715.2;CLNDSDB=.;CLNDSDBID=. 6.3744406 1023 1 6196869 6196869 A G exonic CHD5 NA synonymous SNV CHD5:NM_015557:exon16:c.T2493C:p.I831I exonic ENSG00000116254 NA synonymous SNV ENSG00000116254:ENST00000262450:exon16:c.T2493C:p.I831I,ENSG00000116254:ENST00000496404:exon16:c.T2493C:p.I831I Score=645;Name=lod=560 NA 1p36.31 Score=802;Name=V$BRN2_01 NA NA NA rs2250358 0.51 0.51 0.488 0.517772 0.3946 0.7996 0.4697 0.3366 0.6329 0.39 0.81 0.47 0.36 0.4835 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 1.204028 NA NA 0.414302 0.342488 NA 0.413 NA 6.3742646 1023 X 150791512 150791512 C T exonic PASD1 NA synonymous SNV PASD1:NM_173493:exon7:c.C522T:p.C174C exonic ENSG00000166049 NA synonymous SNV ENSG00000166049:ENST00000370357:exon7:c.C522T:p.C174C NA NA Xq28 NA Name=PU.1 NA NA rs5924978 0.1 0.1 0.11924 NA NA NA NA NA NA 0.15 0.02 0.11 0.11 0.1399 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.215601 NA NA 0.152646 0.099348 NA 0.116 NA 6.3741206 1023 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 1023 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 1023 6 39033593 39033593 G A exonic GLP1R NA synonymous SNV GLP1R:NM_002062:exon4:c.G390A:p.K130K exonic ENSG00000112164 NA synonymous SNV ENSG00000112164:ENST00000373256:exon4:c.G390A:p.K130K Score=512;Name=lod=160 NA 6p21.2 NA NA NA NA rs3765468 0.11 0.11 0.095 0.113219 0.0944 0.2063 0.0937 0.028 0.1656 0.1 0.22 0.09 0.03 0.1219 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647153 NA NA 0.077111 0.032683 NA 0.188 NA 6.3732556 1023 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 1023 16 57071114 57071114 A G exonic NLRC5 NA nonsynonymous SNV NLRC5:NM_032206:exon14:c.A2719G:p.N907D exonic ENSG00000140853 NA nonsynonymous SNV ENSG00000140853:ENST00000538453:exon3:c.A172G:p.N58D,ENSG00000140853:ENST00000543030:exon8:c.A616G:p.N206D,ENSG00000140853:ENST00000538110:exon10:c.A1240G:p.N414D,ENSG00000140853:ENST00000539144:exon13:c.A2719G:p.N907D,ENSG00000140853:ENST00000262510:exon15:c.A2719G:p.N907D,ENSG00000140853:ENST00000308149:exon15:c.A2719G:p.N907D,ENSG00000140853:ENST00000436936:exon15:c.A2719G:p.N907D Score=352;Name=lod=36 NA 16q13 NA NA Name=9 NA rs1672867 0.95 0.95 0.992 0.994409 0.9871 0.999 0.9942 1 0.9898 0.91 0.99 0.98 0.93 0.9891 1 0.75 T 0.0 B 0.001 B 0.048 N 1.000 P -1.245 N 0.62 T -1.000 T 0.000 T 0.263 -1.996 0.007 1.81 0.216 -0.193 4.075 -1.995975 NA 0.79 0.984651 0.99636 NA 0.304 NA 6.3724824 1023 12 72312268 72312268 G A exonic TBC1D15 NA synonymous SNV TBC1D15:NM_001146213:exon14:c.G1539A:p.R513R,TBC1D15:NM_001146214:exon15:c.G1563A:p.R521R,TBC1D15:NM_022771:exon15:c.G1590A:p.R530R exonic ENSG00000121749 NA synonymous SNV ENSG00000121749:ENST00000393309:exon13:c.G852A:p.R284R,ENSG00000121749:ENST00000485960:exon14:c.G1539A:p.R513R,ENSG00000121749:ENST00000319106:exon15:c.G1563A:p.R521R,ENSG00000121749:ENST00000550746:exon15:c.G1590A:p.R530R Score=649;Name=lod=581 NA 12q21.1 NA NA NA NA rs11178985 0.14 0.14 0.143 0.165335 0.0755 0.0377 0.0764 0.3926 0.1452 0.07 0.04 0.08 0.39 0.1197 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.206759 NA NA 0.099302 0.376759 NA 0.159 NA 6.3721646 1023 20 25000734 25000734 G A exonic ACSS1 NA synonymous SNV ACSS1:NM_001252676:exon6:c.C795T:p.G265G,ACSS1:NM_001252675:exon7:c.C1158T:p.G386G,ACSS1:NM_001252677:exon7:c.C1158T:p.G386G,ACSS1:NM_032501:exon7:c.C1158T:p.G386G exonic ENSG00000154930 NA synonymous SNV ENSG00000154930:ENST00000537502:exon5:c.C909T:p.G303G,ENSG00000154930:ENST00000542618:exon6:c.C795T:p.G265G,ENSG00000154930:ENST00000323482:exon7:c.C1158T:p.G386G,ENSG00000154930:ENST00000432802:exon7:c.C1158T:p.G386G NA NA 20p11.21 Score=791;Name=V$PAX5_02 NA NA NA rs6115003 0.1 0.1 0.1 0.109026 0.0984 0.003 0.0793 0.2262 0.092 0.1 0.0017 0.08 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 -0.200551 NA NA 0.102442 0.20177 NA 0.087 NA 6.3719246 1023 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 1023 1 207195779 207195779 A G exonic C1orf116 NA nonsynonymous SNV C1orf116:NM_001083924:exon3:c.T592C:p.S198P,C1orf116:NM_023938:exon4:c.T1330C:p.S444P exonic ENSG00000182795 NA nonsynonymous SNV ENSG00000182795:ENST00000461135:exon3:c.T592C:p.S198P,ENSG00000182795:ENST00000359470:exon4:c.T1330C:p.S444P NA NA 1q32.1 NA Name=AP-2alpha,AP-2gamma Name=16 NA rs2842726 0.99 0.99 0.998 0.995208 0.9891 1 0.9914 0.9985 0.9949 0.99 1 0.99 1 0.9883 1 1 T 0.0 B 0.0 B 0.066 N 1.000 P -2.005 N 3.33 T -1.016 T 0.000 T 0.012 -0.66 1.104 -0.771 -0.716 0.009 1.457 -0.66018 NA 1 0.984186 0.997503 NA 0.993 NA 6.3717474 1023 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 1023 2 240923050 240923050 C T intronic NDUFA10 NA NA NA exonic ENSG00000130414 NA nonsynonymous SNV ENSG00000130414:ENST00000307300:exon11:c.G1174A:p.V392M NA NA 2q37.3 NA NA Name=4 NA rs1530144 0.46 0.46 0.437 0.414337 0.4135 0.4395 0.4568 0.4909 0.2556 0.44 0.43 0.48 0.49 0.4736 0.54 0.06 T 0.717 P 0.041 B 0.152 U 1.000 P . . -1.31 T -0.950 T 0.000 T 0.05 -0.039 3.813 -0.862 -0.349 -0.388 2.682 -0.039274 NA 0 0.408338 0.477169 NA 0.514 NA 6.3712287 1023 11 8947021 8947021 A G exonic C11orf16 NA nonsynonymous SNV C11orf16:NM_020643:exon5:c.T1193C:p.L398P exonic ENSG00000176029 NA nonsynonymous SNV ENSG00000176029:ENST00000326053:exon5:c.T1193C:p.L398P,ENSG00000176029:ENST00000525780:exon5:c.T1193C:p.L398P NA NA 11p15.4 NA NA NA NA rs2653588 0.87 0.87 0.891 0.889776 0.998 1 0.964 0.6029 1 0.96 0.96 0.92 0.58 0.9666 1 1 T 0.0 B 0.0 B 0.016 N 1.000 P -1.78 N 1.56 T -0.986 T 0.000 T 0.037 -2.709 0 2.59 0.429 1.550 3.444 -2.70916 NA 1 0.997789 0.638573 NA 0.812 NA 6.3709444 1023 19 6427408 6427408 G A exonic SLC25A41 NA synonymous SNV SLC25A41:NM_173637:exon5:c.C729T:p.R243R exonic ENSG00000181240 NA synonymous SNV ENSG00000181240:ENST00000321510:exon5:c.C729T:p.R243R,ENSG00000181240:ENST00000597558:exon5:c.C729T:p.R243R Score=539;Name=lod=206 NA 19p13.3 NA NA NA NA rs3760750 0.09 0.09 0.072 0.076877 0.0964 0.1438 0.0836 0.003 0.0828 0.1 0.17 0.08 0.01 0.1046 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.119569 NA NA 0.094856 0.022531 NA 0.065 NA 6.3708106 1023 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 1023 12 46321514 46321514 A T exonic SCAF11 NA nonsynonymous SNV SCAF11:NM_004719:exon11:c.T1970A:p.F657Y exonic ENSG00000139218 NA nonsynonymous SNV ENSG00000139218:ENST00000465950:exon1:c.T1025A:p.F342Y,ENSG00000139218:ENST00000549162:exon5:c.T1394A:p.F465Y,ENSG00000139218:ENST00000369367:exon11:c.T1970A:p.F657Y,ENSG00000139218:ENST00000419565:exon11:c.T1970A:p.F657Y,ENSG00000139218:ENST00000547018:exon11:c.T1790A:p.F597Y NA NA 12q12 NA NA NA NA rs7315731 0.4 0.4 0.391 0.389976 0.501 0.5397 0.3674 0.1127 0.5123 0.51 0.53 0.36 0.12 0.4578 0.53 0.09 T 0.671 P 0.328 B 0.843 N 1.000 P 1.445 L 2.09 T -0.915 T 0.000 T 0.116 1.132 9.614 1.74 0.110 -0.214 7.440 1.132054 NA 0.05 0.50442 0.165456 NA 0.319 NA 6.3701134 1023 2 186670104 186670104 A C exonic FSIP2 NA nonsynonymous SNV FSIP2:NM_173651:exon17:c.A16338C:p.E5446D exonic ENSG00000188738 NA nonsynonymous SNV ENSG00000188738:ENST00000343098:exon17:c.A16338C:p.E5446D,ENSG00000188738:ENST00000424728:exon17:c.A16071C:p.E5357D Score=463;Name=lod=102 NA 2q32.1 NA NA NA NA rs7576532 0.95 0.95 0.954 0.95607 0.9891 0.9425 0.9179 0.9319 0.9959 0.99 0.94 0.93 0.95 0.9763 1 1 T . . . . . . 1.000 P -0.895 N 1.45 T -0.983 T 0.000 T 0.027 -3.285 0.001 2.78 0.465 0.055 4.394 -3.28513 NA 1 0.997918 0.93587 NA 0.986 NA 6.3700154 1023 11 43876698 43876698 C T exonic HSD17B12 NA nonsynonymous SNV HSD17B12:NM_016142:exon11:c.C839T:p.S280L exonic ENSG00000149084 NA nonsynonymous SNV ENSG00000149084:ENST00000278353:exon11:c.C839T:p.S280L NA NA 11p11.2 NA NA NA NA rs11555762 0.33 0.33 0.287 0.359026 0.3211 0.256 0.464 0.4236 0.3425 0.31 0.19 0.45 0.42 0.3328 0.45 0.72 T 0.002 B 0.001 B 0.088 N 1.000 P 0.63 N 0.89 T -0.966 T 0.000 T 0.136 -0.293 2.602 0.382 -0.122 0.692 7.799 -0.292759 NA 0.63 0.309419 0.416478 NA 0.333 NA 6.3700144 1023 22 36900806 36900806 A G exonic FOXRED2 NA nonsynonymous SNV FOXRED2:NM_001102371:exon3:c.T535C:p.F179L,FOXRED2:NM_024955:exon3:c.T535C:p.F179L exonic ENSG00000100350 NA nonsynonymous SNV ENSG00000100350:ENST00000397223:exon2:c.T535C:p.F179L,ENSG00000100350:ENST00000216187:exon3:c.T535C:p.F179L,ENSG00000100350:ENST00000397224:exon3:c.T535C:p.F179L NA NA 22q12.3 Score=789;Name=V$TCF11MAFG_01 NA NA NA rs760718 0.51 0.51 0.461 0.454473 0.668 0.2123 0.7089 0.444 0.318 0.67 0.25 0.71 0.43 0.595 0.71 0.77 T 0.0 B 0.001 B 0.000 N 0.000 P -0.125 N 2.42 T -1.005 T 0.000 T 0.088 -1.75 0.01 1.94 0.333 0.726 9.799 -1.750466 NA 1 0.700698 0.470041 NA 0.572 NA 6.3696354 1023 3 40498845 40498845 C T UTR5 RPL14 NM_003973:c.-7C>T,NM_001034996:c.-118C>T NA NA UTR5 ENSG00000188846 ENST00000338970:c.-7C>T,ENST00000396203:c.-118C>T,ENST00000416518:c.-118C>T NA NA Score=433;Name=lod=77 NA 3p22.1 Score=888;Name=V$YY1_01 Name=ELF1_(SC-631),HEY1,Pol2-4H8,NFKB,c-Jun,TAF1,RFX5_(N-494),HMGN3,GTF2B,POU2F2,TAF7_(SQ-8),USF1_(SC-8983),Pol2(phosphoS2),FOSL2,Pol2,JunD,GTF2F1_(RAP-74),YY1,c-Fos,TBP,Pol2(b),Mxi1_(bHLH),eGFP-JunD,Sin3Ak-20,SP1,Nrf1,IRF1,Oct-2,c-Myc,Max Name=147 NA rs2276868 0.52 0.52 0.506 0.471046 0.6829 0.4127 0.6354 0.2769 0.4591 0.69 0.44 0.61 0.28 0.6028 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 1.334849 1.334849 NA 0.678256 0.315933 NA 0.471 NA 6.3693774 1023 1 120057158 120057158 C T exonic HSD3B1 NA synonymous SNV HSD3B1:NM_000862:exon4:c.C1012T:p.L338L exonic ENSG00000203857 NA synonymous SNV ENSG00000203857:ENST00000528909:exon3:c.C1012T:p.L338L,ENSG00000203857:ENST00000235547:exon4:c.C1018T:p.L340L,ENSG00000203857:ENST00000369413:exon4:c.C1012T:p.L338L Score=470;Name=lod=108 NA 1p12 Score=775;Name=V$ER_Q6 NA NA NA rs6203 0.4 0.4 0.337 0.366813 0.4254 0.6528 0.4813 0.0333 0.3814 0.43 0.63 0.45 0.03 0.4388 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.810175 NA NA 0.433721 0.103722 NA 0.29 NA 6.3687456 1023 22 47116905 47116905 G A exonic CERK NA synonymous SNV CERK:NM_022766:exon2:c.C150T:p.C50C exonic ENSG00000100422 NA synonymous SNV ENSG00000100422:ENST00000216264:exon2:c.C150T:p.C50C,ENSG00000100422:ENST00000443629:exon2:c.C150T:p.C50C Score=321;Name=lod=27 NA 22q13.31 NA NA NA NA rs12166204 0.09 0.09 0.086 0.0898562 0.0964 0.0397 0.0663 0.1664 0.0481 0.09 0.03 0.08 0.16 0.0902 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.775321 NA NA 0.111395 0.154335 NA 0.159 NA 6.3686716 1023 22 46685380 46685380 C T exonic TTC38 NA synonymous SNV TTC38:NM_017931:exon12:c.C1164T:p.D388D exonic ENSG00000075234 NA synonymous SNV ENSG00000075234:ENST00000445282:exon11:c.C990T:p.D330D,ENSG00000075234:ENST00000381031:exon12:c.C1164T:p.D388D NA NA 22q13.31 Score=784;Name=V$ER_Q6 NA NA NA rs11705624 0.06 0.06 0.068 0.0407348 0.1193 0.001 0.0576 0.0083 0.0327 0.12 NA 0.07 0.01 0.0756 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 -0.880596 NA NA 0.103116 0.019664 NA 0.022 NA 6.3686506 1023 16 88594567 88594567 C T exonic ZFPM1 NA synonymous SNV ZFPM1:NM_153813:exon6:c.C633T:p.C211C exonic ENSG00000179588 NA synonymous SNV ENSG00000179588:ENST00000319555:exon6:c.C633T:p.C211C Score=272;Name=lod=17 NA 16q24.2 NA NA NA NA rs35121729 0.15 0.15 0.129 0.126398 0.0905 0.3591 0.1326 0.0098 0.0767 0.08 0.38 0.14 0.02 0.128 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.426461 NA NA 0.079702 0.019301 ID=COSM435906;OCCURENCE=1(breast) 0.101 NA 6.3684646 1023 19 46376217 46376217 C A exonic FOXA3 NA synonymous SNV FOXA3:NM_004497:exon2:c.C954A:p.P318P exonic ENSG00000170608 NA synonymous SNV ENSG00000170608:ENST00000302177:exon2:c.C954A:p.P318P Score=612;Name=lod=410 NA 19q13.32 NA NA NA NA rs3810327 0.07 0.07 0.055 0.0696885 0.1113 0.0714 0.0591 0.0174 0.1033 0.1 0.07 0.04 0.02 0.0925 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 0.514912 NA NA 0.094419 0.032683 NA 0.058 NA 6.3684476 1023 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 1023 9 111653574 111653574 C G exonic IKBKAP NA synonymous SNV IKBKAP:NM_003640:exon28:c.G3069C:p.L1023L exonic ENSG00000070061 NA synonymous SNV ENSG00000070061:ENST00000537196:exon21:c.G2022C:p.L674L,ENSG00000070061:ENST00000374647:exon28:c.G3069C:p.L1023L Score=516;Name=lod=167 NA 9q31.3 Score=743;Name=V$MYOGNF1_01 NA NA NA rs1063110 0.36 0.36 0.302 0.315495 0.4523 0.4762 0.4553 0.0477 0.272 0.44 0.47 0.43 0.06 0.3913 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.003677 NA NA 0.455116 0.11212 NA 0.37 NA 6.3679506 1023 2 234371351 234371351 G A exonic DGKD NA synonymous SNV DGKD:NM_003648:exon25:c.G3024A:p.T1008T,DGKD:NM_152879:exon26:c.G3156A:p.T1052T exonic ENSG00000077044 NA synonymous SNV ENSG00000077044:ENST00000409813:exon25:c.G3024A:p.T1008T,ENSG00000077044:ENST00000264057:exon26:c.G3156A:p.T1052T NA NA 2q37.1 Score=799;Name=V$PAX5_01 NA NA NA rs2228939 0.1 0.1 0.105 0.116214 0.1044 0.0427 0.1066 0.1611 0.1503 0.1 0.04 0.09 0.17 0.0989 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.823863 NA NA 0.095581 0.157286 NA 0.181 NA 6.3677856 1023 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 1023 9 123782299 123782299 G A exonic C5 NA synonymous SNV C5:NM_001735:exon12:c.C1461T:p.T487T exonic ENSG00000106804 NA synonymous SNV ENSG00000106804:ENST00000223642:exon12:c.C1461T:p.T487T Score=512;Name=lod=160 NA 9q33.2 NA NA NA NA rs2230214 0.07 0.07 0.067 0.0888578 0.0984 0.0367 0.0533 0.1278 0.1053 0.09 0.02 0.06 0.1 0.0948 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.616051 NA NA 0.105814 0.143214 NA 0.109 NA 6.3676526 1023 2 120060082 120060082 T C exonic C2orf76 NA nonsynonymous SNV C2orf76:NM_001017927:exon7:c.A347G:p.K116R exonic ENSG00000186132 NA nonsynonymous SNV ENSG00000186132:ENST00000334816:exon6:c.A347G:p.K116R,ENSG00000186132:ENST00000409523:exon6:c.A347G:p.K116R,ENSG00000186132:ENST00000409466:exon7:c.A347G:p.K116R,ENSG00000186132:ENST00000409877:exon7:c.A347G:p.K116R Score=597;Name=lod=355 NA 2q14.2 NA NA NA NA rs1052500 0.66 0.66 0.674 0.663339 0.6491 0.4286 0.5994 0.9213 0.6166 0.66 0.45 0.62 0.93 0.6632 0.93 0.6 T 0.0 B 0.0 B 0.028 N 0.998 P 0.805 L 1.52 T -1.004 T 0.000 T 0.09 0.546 6.955 1.12 -0.029 0.875 9.049 0.546162 NA 0.6 0.653705 0.882013 NA 0.775 NA 6.3673284 1023 14 57938260 57938260 T C exonic C14orf105 NA nonsynonymous SNV C14orf105:NM_018168:exon6:c.A704G:p.Y235C exonic ENSG00000100557 NA nonsynonymous SNV ENSG00000100557:ENST00000216445:exon6:c.A704G:p.Y235C,ENSG00000100557:ENST00000534126:exon6:c.A701G:p.Y234C,ENSG00000100557:ENST00000422976:exon7:c.A824G:p.Y275C NA NA 14q22.3 NA NA Name=2 NA rs1152530 0.87 0.87 0.899 0.89357 0.998 1 0.9741 0.612 1 0.93 0.96 0.97 0.6 0.9696 1 0.19 T 0.043 B 0.029 B 0.977 N 1.000 P 0.49 N 0.67 T -1.007 T 0.000 T 0.225 0.367 5.992 2.12 0.334 -0.128 3.858 0.36687 NA 0.19 0.998837 0.673627 NA 0.659 NA 6.3668964 1023 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$COUP_01 NA NA NA rs17826465 0.05 0.05 0.035 0.0447284 0.1064 0.004 0.0648 0.0068 0.0603 0.1 0.0035 0.07 0.01 0.0819 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.781785 NA NA 0.111512 0.025193 NA 0.007 NA 6.3668546 1023 11 85436500 85436500 T C exonic SYTL2 NA nonsynonymous SNV SYTL2:NM_206927:exon1:c.A1000G:p.M334V,SYTL2:NM_206928:exon1:c.A1000G:p.M334V exonic ENSG00000137501 NA nonsynonymous SNV ENSG00000137501:ENST00000354566:exon1:c.A1000G:p.M334V,ENSG00000137501:ENST00000359152:exon1:c.A2572G:p.M858V,ENSG00000137501:ENST00000389959:exon1:c.A1000G:p.M334V,ENSG00000137501:ENST00000525423:exon1:c.A1000G:p.M334V NA NA 11q14.1 NA NA NA NA rs580459 0.68 0.68 0.686 0.666534 0.6551 0.6012 0.5706 0.8812 0.5235 0.66 0.57 0.62 0.87 0.6545 0.87 . . 0.019 B 0.007 B 0.642 N 1.000 P 0.345 N 1.73 T -1.044 T 0.000 T 0.067 0.644 7.46 1.74 0.490 -2.079 3.430 0.64442 NA 0.09 0.65713 0.824103 NA 0.522 NA 6.3666034 1023 16 84516309 84516309 G A exonic TLDC1 NA synonymous SNV TLDC1:NM_020947:exon6:c.C966T:p.N322N exonic ENSG00000140950 NA synonymous SNV ENSG00000140950:ENST00000343629:exon6:c.C966T:p.N322N,ENSG00000140950:ENST00000535580:exon7:c.C885T:p.N295N NA NA 16q24.1 Score=782;Name=V$HEN1_01 NA Name=18 NA rs433293 0.41 0.41 0.382 0.439497 0.4205 0.5575 0.5187 0.1959 0.6104 0.43 0.52 0.5 0.19 0.4559 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.303562 NA NA 0.423721 0.247727 ID=COSM435876;OCCURENCE=1(breast) 0.384 NA 6.3665456 1023 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 1023 16 22161136 22161136 T C exonic VWA3A NA nonsynonymous SNV VWA3A:NM_173615:exon29:c.T3013C:p.F1005L exonic ENSG00000175267 NA nonsynonymous SNV ENSG00000175267:ENST00000563755:exon4:c.T319C:p.F107L,ENSG00000175267:ENST00000389398:exon29:c.T3013C:p.F1005L,ENSG00000175267:ENST00000389397:exon30:c.T319C:p.F107L NA NA 16p12.2 Score=740;Name=V$MYOGNF1_01 NA NA NA rs1991020 0.95 0.95 0.959 0.964257 0.999 0.8829 0.9308 0.9985 0.9898 1 0.85 0.94 1 0.9705 1 0.56 T 0.0 B 0.0 B 0.365 N 1.000 P -1.135 N 3.2 T -1.039 T 0.000 T 0.03 -1.079 0.163 2.21 0.254 0.657 3.520 -1.078937 NA 0.4 0.997953 0.998732 NA 0.971 NA 6.3658804 1023 19 1003158 1003158 C T exonic GRIN3B NA synonymous SNV GRIN3B:NM_138690:exon2:c.C456T:p.A152A exonic ENSG00000116032 NA synonymous SNV ENSG00000116032:ENST00000234389:exon2:c.C456T:p.A152A Score=449;Name=lod=89 NA 19p13.3 NA NA NA NA rs35163060 0.13 0.13 0.143 0.138778 0.0606 0.121 0.0504 0.32 0.0552 0.06 0.12 0.06 0.29 0.1737 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.487999 1.487999 NA 0.066595 0.252252 NA 0.196 NA 6.3657716 1023 19 43979589 43979589 G T exonic PHLDB3 NA synonymous SNV PHLDB3:NM_198850:exon16:c.C1896A:p.T632T exonic ENSG00000176531 NA synonymous SNV ENSG00000176531:ENST00000292140:exon16:c.C1896A:p.T632T NA NA 19q13.31 NA Name=Pol2(b),Egr-1,AP-2gamma,TBP,CCNT2,AP-2alpha,YY1,PU.1,ZBTB7A_(SC-34508),Max,YY1_(C-20),Nrf1,SP1,IRF1,eGFP-JunD,STAT3,PAX5-C20,TAF1,HMGN3,NFKB,Pol2-4H8,ELF1_(SC-631),Pol2,E2F6,E2F6_(H-50) Name=141 NA rs1055099 0.55 0.55 0.52 0.559105 0.4165 0.6944 0.5086 0.6316 0.5041 0.43 0.68 0.49 0.64 0.471 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.513408 NA NA 0.413466 0.548968 NA 0.529 NA 6.3657006 1023 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 1023 17 1538546 1538546 C T exonic SCARF1 NA nonsynonymous SNV SCARF1:NM_003693:exon11:c.G1999A:p.G667S exonic ENSG00000074660 NA nonsynonymous SNV ENSG00000074660:ENST00000348987:exon9:c.G1741A:p.G581S,ENSG00000074660:ENST00000263071:exon11:c.G1999A:p.G667S NA NA 17p13.3 Score=777;Name=V$MYCMAX_03 NA NA NA rs4790250 0.91 0.91 0.896 0.906749 0.998 0.9226 0.9827 0.7277 0.9847 1 0.93 0.98 0.7 0.9715 1 0.86 T 0.084 B 0.022 B 0.049 N 1.000 P 1.175 L 1.61 T -0.917 T 0.000 T 0.042 0.566 7.059 2.24 0.208 0.357 8.664 0.56604 NA 1 0.998464 0.783579 NA 0.884 NA 6.3653694 1023 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$PAX5_02 NA NA NA rs33912216 0.11 0.11 0.085 0.122404 0.1044 0.0774 0.2478 0.1218 0.0992 0.09 0.05 0.23 0.13 0.1115 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446206 NA NA 0.085728 0.120879 NA 0.043 NA 6.3650386 1024 10 30986364 30986364 G A intergenic LYZL2,ZNF438 dist=67717;dist=147201 NA NA ncRNA_exonic ENSG00000234814 NA NA NA Score=568;Name=lod=272 NA 10p11.23 Score=994;Name=V$MZF1_01 NA Name=2 NA rs7078530 0.48 0.48 0.438 0.481829 0.6352 0.3919 0.5144 0.2859 0.6585 0.64 0.41 0.55 0.26 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 2.602853 2.602853 NA NA NA NA 0.275 NA 6.3648 1024 16 2282256 2282256 G A exonic E4F1 NA nonsynonymous SNV E4F1:NM_004424:exon4:c.G500A:p.R167H exonic ENSG00000167967 NA nonsynonymous SNV ENSG00000167967:ENST00000301727:exon4:c.G500A:p.R167H,ENSG00000167967:ENST00000564139:exon4:c.G500A:p.R167H,ENSG00000167967:ENST00000565090:exon4:c.G500A:p.R167H,ENSG00000167967:ENST00000565413:exon4:c.G434A:p.R145H NA NA 16p13.3 NA NA NA NA rs26839 0.99 0.99 0.994 0.995607 0.9851 1 0.9957 1 0.9959 0.99 1 0.99 1 0.9933 1 0.17 T 0.245 B 0.042 B 0.035 N 1.000 P -0.69 N 3.3 T -0.971 T 0.000 T 0.291 1.364 10.49 -6.01 -1.533 -0.663 8.465 1.364304 1.364304 0.26 0.990344 0.997268 NA 0.768 NA 6.3645894 1024 3 149459413 149459413 C T exonic COMMD2 NA synonymous SNV COMMD2:NM_016094:exon5:c.G495A:p.L165L exonic ENSG00000114744 NA synonymous SNV ENSG00000114744:ENST00000473414:exon5:c.G495A:p.L165L Score=522;Name=lod=176 NA 3q25.1 NA NA NA NA rs11549572 0.26 0.26 0.298 0.280351 0.0785 0.2609 0.1354 0.6097 0.1656 0.07 0.23 0.16 0.64 0.1433 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.869264 NA NA 0.080581 0.522923 NA 0.29 NA 6.3642856 1024 12 9142297 9142297 T C exonic KLRG1 NA synonymous SNV KLRG1:NM_005810:exon1:c.T66C:p.Y22Y exonic ENSG00000139187 NA synonymous SNV ENSG00000139187:ENST00000266551:exon1:c.T66C:p.Y22Y,ENSG00000139187:ENST00000356986:exon1:c.T66C:p.Y22Y NA NA 12p13.31 NA Name=c-Jun,GATA-2 Name=15 NA rs1805723 0.37 0.37 0.349 0.345647 0.4334 0.3998 0.3775 0.1377 0.4581 0.45 0.44 0.38 0.15 0.4233 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227589 NA NA 0.446047 0.172719 NA 0.464 NA 6.3639196 1024 1 204396830 204396830 G A exonic PIK3C2B NA synonymous SNV PIK3C2B:NM_002646:exon32:c.C4533T:p.S1511S exonic ENSG00000133056 NA synonymous SNV ENSG00000133056:ENST00000367187:exon32:c.C4533T:p.S1511S,ENSG00000133056:ENST00000424712:exon33:c.C4449T:p.S1483S Score=619;Name=lod=437 NA 1q32.1 NA NA NA NA rs17334387 0.15 0.15 0.14 0.13738 0.1113 0.0774 0.1023 0.2776 0.0613 0.11 0.09 0.12 0.29 0.1053 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632076 NA NA 0.086163 0.256695 NA 0.188 NA 6.3639036 1024 13 42729441 42729441 C T exonic DGKH NA synonymous SNV DGKH:NM_152910:exon4:c.C399T:p.F133F,DGKH:NM_178009:exon4:c.C399T:p.F133F,DGKH:NM_001204504:exon5:c.C399T:p.F133F exonic ENSG00000102780 NA synonymous SNV ENSG00000102780:ENST00000261491:exon4:c.C399T:p.F133F,ENSG00000102780:ENST00000337343:exon4:c.C399T:p.F133F,ENSG00000102780:ENST00000540693:exon5:c.C399T:p.F133F Score=385;Name=lod=49 NA 13q14.11 NA NA NA NA rs3208827 0.05 0.05 0.052 0.0515176 0.0994 0.0179 0.0476 0.0159 0.0879 0.09 0.02 0.06 0.03 0.0951 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 1.073864 NA NA 0.108372 0.025193 NA 0.094 NA 6.3637946 1024 17 3966064 3966064 A G exonic ZZEF1 NA synonymous SNV ZZEF1:NM_015113:exon30:c.T4866C:p.C1622C exonic ENSG00000074755 NA synonymous SNV ENSG00000074755:ENST00000381638:exon30:c.T4866C:p.C1622C Score=531;Name=lod=192 NA 17p13.2 Score=890;Name=V$TGIF_01 NA NA NA rs781825 0.47 0.47 0.505 0.474641 0.4076 0.246 0.4078 0.8132 0.3691 0.41 0.27 0.44 0.82 0.4989 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 1.214183 NA NA 0.397442 0.75783 NA 0.493 NA 6.3627246 1024 5 64097145 64097145 C G exonic CWC27 NA nonsynonymous SNV CWC27:NM_005869:exon9:c.C766G:p.P256A exonic ENSG00000153015 NA nonsynonymous SNV ENSG00000153015:ENST00000381070:exon9:c.C766G:p.P256A,ENSG00000153015:ENST00000508024:exon9:c.C766G:p.P256A NA NA 5q12.3 NA NA NA NA rs7735338 0.41 0.41 0.434 0.412939 0.341 0.5069 0.2161 0.5023 0.409 0.35 0.49 0.25 0.51 0.3205 0.51 0.74 T 0.0 B 0.001 B 0.409 N 1.000 P 0 N 1.14 T -0.930 T 0.000 T 0.018 -2.554 0.003 0.351 -0.290 0.229 0.394 -2.554159 NA 0.61 0.309569 0.425255 NA 0.326 NA 6.3622644 1024 10 15573050 15573050 A G exonic ITGA8 NA nonsynonymous SNV ITGA8:NM_003638:exon28:c.T2981C:p.V994A exonic ENSG00000077943 NA nonsynonymous SNV ENSG00000077943:ENST00000378076:exon28:c.T2981C:p.V994A NA NA 10p13 NA NA NA NA rs1041135 0.91 0.91 0.893 0.913938 1 0.7579 0.9841 0.8775 0.9857 1 0.78 0.99 0.86 0.9724 1 0.73 T 0.0 B 0.0 B 0.039 N 1.000 P -0.63 N -0.25 T -0.958 T 0.000 T 0.073 -0.46 1.871 4.73 0.740 3.477 7.744 -0.460157 NA 1 0.998837 0.89537 NA 0.978 NA 6.3620964 1024 1 226032229 226032229 C T exonic EPHX1 NA synonymous SNV EPHX1:NM_000120:exon8:c.C1071T:p.N357N,EPHX1:NM_001136018:exon8:c.C1071T:p.N357N exonic ENSG00000143819 NA synonymous SNV ENSG00000143819:ENST00000272167:exon8:c.C1071T:p.N357N,ENSG00000143819:ENST00000366837:exon8:c.C1071T:p.N357N Score=575;Name=lod=289 NA 1q42.12 NA NA NA NA rs1051741 0.09 0.09 0.079 0.126398 0.0895 0.1141 0.0591 0.1051 0.2536 0.09 0.11 0.06 0.09 0.1119 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 0.82157 NA NA 0.103256 0.113028 ID=COSM146794;OCCURENCE=1(stomach) 0.087 NA 6.3620106 1024 20 56186884 56186884 T C exonic ZBP1 NA nonsynonymous SNV ZBP1:NM_001160418:exon5:c.A548G:p.Q183R,ZBP1:NM_001160417:exon6:c.A770G:p.Q257R,ZBP1:NM_030776:exon6:c.A773G:p.Q258R exonic ENSG00000124256 NA nonsynonymous SNV ENSG00000124256:ENST00000340462:exon5:c.A704G:p.Q235R,ENSG00000124256:ENST00000395822:exon5:c.A548G:p.Q183R,ENSG00000124256:ENST00000343535:exon6:c.A773G:p.Q258R,ENSG00000124256:ENST00000371173:exon6:c.A773G:p.Q258R NA NA 20q13.31 NA NA NA NA rs2865394 0.99 0.99 0.995 0.996406 0.9861 1 0.9942 1 1 0.98 1 0.99 1 0.993 1 0.51 T 0.0 B 0.0 B 0.038 N 1.000 P -1.1 N 3.14 T -1.020 T 0.000 T 0.032 -0.856 0.535 -2.03 -0.779 -1.674 5.593 -0.8562 NA 0.43 0.992326 0.997276 NA 1 NA 6.3619074 1024 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 1024 3 16305674 16305674 C G exonic DPH3 NA synonymous SNV DPH3:NM_206831:exon2:c.G171C:p.V57V exonic ENSG00000154813 NA synonymous SNV ENSG00000154813:ENST00000488423:exon2:c.G171C:p.V57V Score=594;Name=lod=347 NA 3p25.1 NA NA Name=6 NA rs14080 0.42 0.42 0.377 0.433706 0.4324 0.4762 0.4712 0.3079 0.5348 0.42 0.5 0.47 0.28 0.4485 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.286376 1.286376 NA 0.424186 0.350885 ID=COSM1179801;OCCURENCE=1(prostate) 0.377 NA 6.3615806 1024 22 46722531 46722531 C T exonic GTSE1 NA synonymous SNV GTSE1:NM_016426:exon9:c.C1704T:p.P568P exonic ENSG00000075218 NA synonymous SNV ENSG00000075218:ENST00000454366:exon9:c.C1704T:p.P568P Score=243;Name=lod=13 NA 22q13.31 NA NA NA NA rs9615949 0.06 0.06 0.064 0.0465256 0.1223 0.001 0.0562 0.0287 0.0327 0.12 NA 0.08 0.02 0.0768 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 -0.827391 NA NA 0.106279 0.034044 NA 0.029 NA 6.3612876 1024 14 20876253 20876253 A G exonic TEP1 NA nonsynonymous SNV TEP1:NM_007110:exon2:c.T346C:p.S116P exonic ENSG00000129566 NA nonsynonymous SNV ENSG00000129566:ENST00000262715:exon2:c.T346C:p.S116P,ENSG00000129566:ENST00000555727:exon2:c.T346C:p.S116P,ENSG00000129566:ENST00000556549:exon2:c.T346C:p.S116P,ENSG00000129566:ENST00000556935:exon2:c.T346C:p.S116P NA NA 14q11.2 NA NA NA NA rs1760897 0.34 0.34 0.344 0.359225 0.3211 0.1825 0.3012 0.5439 0.3722 0.33 0.2 0.32 0.53 0.3337 0.53 1 T 0.0 B 0.0 B 0.450 N 1.000 P -0.975 N 1.75 T -0.940 T 0.000 T 0.039 -1.779 0.01 -0.634 -0.134 -0.657 3.387 -1.778725 NA 1 0.317558 0.51044 NA 0.348 NA 6.3609754 1024 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 1024 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 1024 11 63997329 63997329 A G exonic NUDT22 NA nonsynonymous SNV NUDT22:NM_001128613:exon5:c.A680G:p.Q227R,NUDT22:NM_001271831:exon5:c.A680G:p.Q227R,NUDT22:NM_001128612:exon6:c.A779G:p.Q260R,NUDT22:NM_032344:exon6:c.A779G:p.Q260R exonic ENSG00000149761 NA nonsynonymous SNV ENSG00000149761:ENST00000534929:exon2:c.A38G:p.Q13R,ENSG00000149761:ENST00000441250:exon5:c.A680G:p.Q227R,ENSG00000149761:ENST00000279206:exon6:c.A779G:p.Q260R NA NA 11q13.1 NA NA NA NA rs633561 0.95 0.95 0.941 0.94389 0.998 0.9861 0.9827 0.8147 0.9918 1 0.98 0.98 0.83 0.9792 1 0.88 T 0.0 B 0.001 B 0.831 N 1.000 P 1.04 L 2.35 T -0.987 T 0.000 T 0.075 1.205 9.895 -8.76 -2.544 -0.873 4.880 1.205162 NA 0.77 0.995462 0.837119 NA 0.942 NA 6.3606714 1024 9 130605385 130605385 C T exonic ENG NA synonymous SNV ENG:NM_000118:exon2:c.G207A:p.L69L,ENG:NM_001114753:exon2:c.G207A:p.L69L exonic ENSG00000106991 NA synonymous SNV ENSG00000106991:ENST00000344849:exon2:c.G207A:p.L69L,ENSG00000106991:ENST00000373203:exon2:c.G207A:p.L69L Score=333;Name=lod=30 NA 9q34.11 NA NA NA NA rs11545664 0.13 0.13 0.126 0.110224 0.1044 0.0466 0.085 0.236 0.0297 0.1 0.06 0.1 0.25 0.0982 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.103965 NA NA 0.103721 0.251702 NA 0.203 NA 6.3603456 1024 3 45127515 45127515 T C exonic CDCP1 NA nonsynonymous SNV CDCP1:NM_022842:exon9:c.A2126G:p.D709G exonic ENSG00000163814 NA nonsynonymous SNV ENSG00000163814:ENST00000296129:exon9:c.A2126G:p.D709G NA NA 3p21.31 NA NA NA NA rs9874077 0.94 0.94 0.924 0.929313 0.996 1 0.9741 0.7489 1 1 1 0.98 0.76 0.9792 1 1 T 0.0 B 0.0 B 0.009 N 0.992 P -2.015 N 2.05 T -0.955 T 0.000 T 0.059 -1.774 0.01 5.82 1.485 0.427 11.353 -1.774161 NA 1 0.99814 0.789832 NA 0.92 NA 6.3599934 1024 16 56928519 56928519 C T exonic SLC12A3 NA synonymous SNV SLC12A3:NM_000339:exon22:c.C2625T:p.G875G,SLC12A3:NM_001126107:exon22:c.C2622T:p.G874G,SLC12A3:NM_001126108:exon22:c.C2598T:p.G866G exonic ENSG00000070915 NA synonymous SNV ENSG00000070915:ENST00000262502:exon22:c.C2595T:p.G865G,ENSG00000070915:ENST00000438926:exon22:c.C2625T:p.G875G,ENSG00000070915:ENST00000563236:exon22:c.C2598T:p.G866G,ENSG00000070915:ENST00000566786:exon22:c.C2622T:p.G874G Score=599;Name=lod=364 NA 16q13 NA NA NA NA rs5804 0.13 0.13 0.123 0.131989 0.0895 0.2252 0.2003 0.0356 0.1616 0.09 0.24 0.18 0.04 0.1202 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136706 NA NA 0.097209 0.053685 NA 0.065 NA 6.3597576 1024 19 49839015 49839015 T C exonic CD37 NA synonymous SNV CD37:NM_001774:exon2:c.T114C:p.I38I exonic ENSG00000104894 NA synonymous SNV ENSG00000104894:ENST00000323906:exon2:c.T114C:p.I38I,ENSG00000104894:ENST00000535669:exon2:c.T114C:p.I38I,ENSG00000104894:ENST00000595660:exon2:c.T114C:p.I38I,ENSG00000104894:ENST00000595725:exon2:c.T114C:p.I38I,ENSG00000104894:ENST00000391859:exon3:c.T114C:p.I38I Score=534;Name=lod=197 NA 19q13.33 Score=887;Name=V$EVI1_02 Name=Egr-1,ZBTB7A_(SC-34508),Pol2 NA NA rs354021 0.83 0.83 0.848 0.842851 0.7465 0.8085 0.8631 0.9592 0.8057 0.76 0.79 0.84 0.96 0.8032 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 1.687925 1.687925 NA 0.757209 0.925783 NA 0.775 NA 6.3597576 1024 15 74622678 74622678 G A exonic CCDC33 NA nonsynonymous SNV CCDC33:NM_025055:exon12:c.G1439A:p.S480N exonic ENSG00000140481 NA nonsynonymous SNV ENSG00000140481:ENST00000268082:exon2:c.G218A:p.S73N,ENSG00000140481:ENST00000321374:exon2:c.G218A:p.S73N,ENSG00000140481:ENST00000558821:exon2:c.G218A:p.S73N,ENSG00000140481:ENST00000398814:exon12:c.G1439A:p.S480N,ENSG00000140481:ENST00000321288:exon14:c.G2048A:p.S683N NA NA 15q24.1 NA Name=CEBPB NA NA rs1564782 0.46 0.46 0.459 0.428115 0.665 0.3611 0.3919 0.2716 0.4908 0.67 0.34 0.46 0.29 0.6163 0.69 0.32 T 0.002 B 0.002 B 0.041 N 1.000 P -0.145 N 2.31 T -0.929 T 0.000 T 0.051 0.048 4.262 1.52 0.030 0.430 4.306 0.047652 NA 0.34 0.692832 0.326735 ID=COSM434282,COSM434283,COSM434281;OCCURENCE=1(breast) 0.399 NA 6.3592014 1024 13 20000630 20000630 T C exonic TPTE2 NA nonsynonymous SNV TPTE2:NM_001271850:exon5:c.A343G:p.I115V,TPTE2:NM_130785:exon16:c.A1099G:p.I367V,TPTE2:NM_001141968:exon17:c.A997G:p.I333V,TPTE2:NM_199254:exon19:c.A1330G:p.I444V exonic ENSG00000132958 NA nonsynonymous SNV ENSG00000132958:ENST00000255310:exon15:c.A1099G:p.I367V,ENSG00000132958:ENST00000390680:exon16:c.A1099G:p.I367V,ENSG00000132958:ENST00000400103:exon16:c.A997G:p.I333V,ENSG00000132958:ENST00000457266:exon16:c.A997G:p.I333V,ENSG00000132958:ENST00000382978:exon17:c.A1210G:p.I404V,ENSG00000132958:ENST00000382975:exon18:c.A1210G:p.I404V,ENSG00000132958:ENST00000400230:exon18:c.A1330G:p.I444V,ENSG00000132958:ENST00000382977:exon19:c.A1330G:p.I444V NA NA 13q12.11 NA NA NA NA rs2497218 0.95 0.95 0.94 0.930112 0.996 1 0.9697 0.7542 1 1 1 0.96 0.82 0.9802 1 . . 0.0 B 0.002 B 0.045 N 1.000 P -0.67 N -1.91 D -0.989 T 0.000 T 0.051 -2.091 0.006 2.06 0.436 0.566 4.852 -2.091458 NA 1 0.998487 0.797365 NA 0.717 NA 6.3586464 1024 11 93797619 93797619 A G exonic HEPHL1 NA nonsynonymous SNV HEPHL1:NM_001098672:exon4:c.A751G:p.N251D exonic ENSG00000181333 NA nonsynonymous SNV ENSG00000181333:ENST00000315765:exon4:c.A751G:p.N251D NA NA 11q21 NA NA NA NA rs1945783 0.92 0.92 0.899 0.910144 0.998 1 0.9784 0.6725 1 1 1 0.98 0.66 0.9776 1 1 T 0.0 B 0.001 B 0.013 N 1.000 P -0.245 N -5.0 D -0.920 T 0.000 T 0.005 -1.98 0.007 2.07 -0.067 0.878 9.427 -1.980371 NA 0.64 0.999146 0.747312 NA 0.913 NA 6.3585874 1024 19 52000672 52000672 G A exonic SIGLEC12 NA nonsynonymous SNV SIGLEC12:NM_033329:exon5:c.C1079T:p.T360M,SIGLEC12:NM_053003:exon6:c.C1433T:p.T478M exonic ENSG00000254521 NA nonsynonymous SNV ENSG00000254521:ENST00000598614:exon5:c.C1079T:p.T360M,ENSG00000254521:ENST00000291707:exon6:c.C1433T:p.T478M NA NA 19q13.41 NA Name=CTCF NA NA rs3829658 0.6 0.6 0.602 0.629393 0.6531 0.4683 0.7651 0.5756 0.7474 0.65 0.48 0.74 0.57 0.6578 0.74 0.29 T 0.345 B 0.056 B 0.229 N 1.000 P 0.42 N 3.57 T -1.041 T 0.000 T 0.036 -0.462 1.863 -0.038 -0.055 0.163 3.558 -0.462073 NA 0.32 0.663953 0.599183 ID=COSM148702;OCCURENCE=1(stomach) 0.609 NA 6.3584804 1024 15 75503147 75503147 G A exonic C15orf39 NA nonsynonymous SNV C15orf39:NM_015492:exon3:c.G2834A:p.G945D exonic ENSG00000167173 NA nonsynonymous SNV ENSG00000167173:ENST00000360639:exon3:c.G2834A:p.G945D,ENSG00000167173:ENST00000394987:exon3:c.G2834A:p.G945D Score=289;Name=lod=20 NA 15q24.2 NA NA NA NA rs3743211 0.94 0.94 0.933 0.946885 0.999 0.8036 0.9856 0.9735 0.9775 1 0.81 0.99 0.98 0.977 1 1 T 0.017 B 0.019 B 0.660 N 0.000 P -0.805 N 2.44 T -0.988 T 0.000 T 0.067 -1.826 0.009 3.07 0.247 0.204 3.451 -1.826115 NA 1 0.998952 0.973145 NA 0.942 NA 6.3583814 1024 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 1024 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 1024 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 1024 6 12124855 12124855 G A exonic HIVEP1 NA nonsynonymous SNV HIVEP1:NM_002114:exon4:c.G4827A:p.M1609I exonic ENSG00000095951 NA nonsynonymous SNV ENSG00000095951:ENST00000379388:exon4:c.G4827A:p.M1609I NA NA 6p24.1 NA NA NA NA rs2228213 0.23 0.23 0.231 0.217053 0.333 0.2232 0.245 0.0628 0.2802 0.33 0.23 0.24 0.09 0.2992 0.34 . . 0.004 B 0.001 B . . 1.000 P 1.5 L 3.11 T -0.976 T 0.009 T 0.016 0.769 8.067 1.51 0.369 0.624 12.200 0.769364 NA 0.22 0.343065 0.091152 ID=COSM1132046;OCCURENCE=1(prostate) 0.261 NA 6.3580684 1024 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 1024 16 11002927 11002927 A G exonic CIITA NA nonsynonymous SNV CIITA:NM_000246:exon12:c.A2699G:p.Q900R exonic ENSG00000179583 NA nonsynonymous SNV ENSG00000179583:ENST00000381835:exon10:c.A947G:p.Q316R,ENSG00000179583:ENST00000324288:exon12:c.A2699G:p.Q900R Score=426;Name=lod=72 NA 16p13.13 Score=759;Name=V$NRSF_01 NA NA NA rs7197779 0.95 0.95 0.935 0.928714 0.998 1 0.9856 0.7398 0.999 1 1 0.99 0.77 0.9787 1 0.47 T 0.001 B 0.002 B 0.074 N 1.000 P 1.32 L 1.7 T -0.980 T 0.000 T 0.029 -0.02 3.912 -0.248 -0.419 0.884 11.026 -0.019857 NA 0.3 0.999419 0.764224 NA 0.928 NA 6.3572144 1024 16 4938160 4938160 T G exonic PPL NA nonsynonymous SNV PPL:NM_002705:exon20:c.A2457C:p.R819S exonic ENSG00000118898 NA nonsynonymous SNV ENSG00000118898:ENST00000592772:exon8:c.A720C:p.R240S,ENSG00000118898:ENST00000345988:exon20:c.A2457C:p.R819S,ENSG00000118898:ENST00000590782:exon20:c.A2451C:p.R817S Score=450;Name=lod=90 NA 16p13.3 NA NA NA NA rs2734742 0.94 0.94 0.936 0.938299 0.997 1 0.9784 0.7799 1 1 1 0.98 0.77 0.9805 1 0.74 T 0.0 B 0.0 B 0.046 N 1.000 P -1.1 N 0.82 T -0.985 T 0.000 T 0.098 0.341 5.851 2.92 0.574 0.644 3.297 0.341209 NA 0.71 0.998837 0.798134 NA 0.957 NA 6.3569964 1024 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$TCF11_01 NA NA NA rs5997988 0.31 0.31 0.296 0.323682 0.4583 0.0377 0.3026 0.4039 0.3865 0.45 0.03 0.35 0.39 0.3918 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786116 NA NA 0.459651 0.422833 NA 0.348 NA 6.3569156 1024 19 39196745 39196745 C T exonic ACTN4 NA synonymous SNV ACTN4:NM_004924:exon5:c.C546T:p.N182N exonic ENSG00000130402 NA synonymous SNV ENSG00000130402:ENST00000252699:exon5:c.C546T:p.N182N Score=563;Name=lod=260 NA 19q13.2 Score=901;Name=V$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 1024 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,IRF4_(M-17),Rad21 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 1024 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 1024 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 1024 18 66504459 66504459 A T exonic CCDC102B NA nonsynonymous SNV CCDC102B:NM_024781:exon2:c.A459T:p.K153N,CCDC102B:NM_001093729:exon4:c.A459T:p.K153N exonic ENSG00000150636 NA nonsynonymous SNV ENSG00000150636:ENST00000584156:exon1:c.A459T:p.K153N,ENSG00000150636:ENST00000319445:exon2:c.A459T:p.K153N,ENSG00000150636:ENST00000358653:exon2:c.A459T:p.K153N,ENSG00000150636:ENST00000360242:exon2:c.A459T:p.K153N,ENSG00000150636:ENST00000584775:exon4:c.A459T:p.K153N NA NA 18q22.1 NA NA NA NA rs572020 0.93 0.93 0.917 0.920927 1 1 0.9784 0.7118 1 1 1 0.98 0.7 0.9785 1 0.18 T 0.002 B 0.005 B 0.042 N 1.000 P 1.245 L 0.78 T -0.945 T 0.000 T 0.097 2.13 13.08 -9.34 -2.331 -0.533 6.934 2.130303 2.130303 0.26 0.99927 0.77186 NA 0.891 NA 6.3555634 1024 5 767033 767033 A C intergenic TPPP,ZDHHC11 dist=73523;dist=28687 NA NA exonic ENSG00000206077 NA nonsynonymous SNV ENSG00000206077:ENST00000382776:exon1:c.T2G:p.M1R,ENSG00000206077:ENST00000508859:exon1:c.T35G:p.M12R NA NA 5p15.33 NA NA NA NA rs1809932 0.76 0.76 0.776 0.778954 0.7256 0.8433 0.7954 0.7617 0.7791 0.71 0.82 0.78 0.75 0.7525 0.82 0 D . . . . . . 0.000 P . . 1.58 T -1.072 T 0.000 T 0.497 2.596 14.64 1.56 0.283 2.161 4.527 2.596348 2.596348 0 NA NA NA 0.768 NA 6.3552334 1024 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 1024 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 1025 12 10462052 10462052 T G exonic KLRD1 NA nonsynonymous SNV KLRD1:NM_002262:exon2:c.T73G:p.S25A,KLRD1:NM_001114396:exon3:c.T73G:p.S25A exonic ENSG00000134539 NA nonsynonymous SNV ENSG00000134539:ENST00000336164:exon2:c.T73G:p.S25A,ENSG00000134539:ENST00000344825:exon2:c.T73G:p.S25A,ENSG00000134539:ENST00000381908:exon2:c.T73G:p.S25A,ENSG00000134539:ENST00000539374:exon2:c.T73G:p.S25A,ENSG00000134539:ENST00000543420:exon2:c.T73G:p.S25A,ENSG00000134539:ENST00000543777:exon2:c.T73G:p.S25A,ENSG00000134539:ENST00000381907:exon3:c.T73G:p.S25A NA NA 12p13.2 NA NA NA NA rs10772256 0.95 0.95 0.945 0.935503 1 1 0.9813 0.7655 1 1 1 0.98 0.8 0.9789 1 1 T 0.0 B 0.0 B 0.998 N 1.000 P -1.435 N 2.33 T -0.994 T 0.000 T 0.028 -1.126 0.121 -3.77 -1.367 -0.122 5.173 -1.126025 NA 1 0.999535 0.77054 NA 0.964 NA 6.3548984 1025 5 176004476 176004476 T C exonic CDHR2 NA nonsynonymous SNV CDHR2:NM_001171976:exon13:c.T1271C:p.V424A,CDHR2:NM_017675:exon13:c.T1271C:p.V424A exonic ENSG00000074276 NA nonsynonymous SNV ENSG00000074276:ENST00000506348:exon12:c.T1271C:p.V424A,ENSG00000074276:ENST00000261944:exon13:c.T1271C:p.V424A,ENSG00000074276:ENST00000510636:exon13:c.T1271C:p.V424A NA NA 5q35.2 NA NA Name=6 NA rs11134982 0.95 0.95 0.936 0.93131 0.999 1 0.9741 0.7617 0.9898 1 1 0.98 0.79 0.9803 1 0.81 T 0.0 B 0.0 B . . 1.000 P -0.05 N 0.48 T -0.982 T 0.000 T 0.065 -0.48 1.788 1.71 0.252 -1.597 5.079 -0.480328 NA 0.65 0.999302 0.801908 NA 0.92 NA 6.3547314 1025 11 6913244 6913244 A G exonic OR2D2 NA nonsynonymous SNV OR2D2:NM_003700:exon1:c.T488C:p.I163T exonic ENSG00000166368 NA nonsynonymous SNV ENSG00000166368:ENST00000299459:exon1:c.T488C:p.I163T Score=265;Name=lod=16 NA 11p15.4 NA NA NA NA rs1965208 0.95 0.95 0.934 0.944489 0.998 1 0.9841 0.7995 1 1 1 0.99 0.79 0.9834 1 1 T 0.0 B 0.001 B 0.003 N 0.999 P -0.15 N 9.08 T -0.903 T 0.000 T 0.035 -0.909 0.42 4.21 0.878 -0.274 10.194 -0.908746 NA 1 0.997323 0.845525 NA 0.797 NA 6.3546104 1025 17 72366695 72366695 C A exonic GPR142 NA nonsynonymous SNV GPR142:NM_181790:exon3:c.C394A:p.H132N exonic ENSG00000257008 NA nonsynonymous SNV ENSG00000257008:ENST00000335666:exon3:c.C394A:p.H132N Score=284;Name=lod=19 NA 17q25.1 NA NA NA NA rs2382647 0.97 0.97 0.959 0.954473 0.998 1 0.9784 0.8729 0.956 1 1 0.97 0.88 0.9822 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.695 N -0.14 T -0.937 T 0.000 T 0.053 0.048 4.265 4.64 0.891 . 8.975 0.048212 NA 0.03 0.998721 0.886064 NA 0.812 NA 6.3544124 1025 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 1025 1 3807593 3807593 G C exonic C1orf174 NA nonsynonymous SNV C1orf174:NM_207356:exon3:c.C158G:p.T53R exonic ENSG00000198912 NA nonsynonymous SNV ENSG00000198912:ENST00000361605:exon3:c.C158G:p.T53R NA NA 1p36.32 NA NA Name=10 NA rs4274008 1 1 0.999 0.997804 0.993 0.999 0.9986 0.9992 0.999 0.99 1 1 1 0.9941 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.895 N 3.42 T -1.001 T 0.000 T 0.071 -1.993 0.007 4.36 0.620 0.103 5.550 -1.992776 NA 1 0.992204 0.997728 NA 1 NA 6.3540294 1025 3 167217960 167217960 C T exonic WDR49 NA synonymous SNV WDR49:NM_178824:exon14:c.G1956A:p.E652E exonic ENSG00000174776 NA synonymous SNV ENSG00000174776:ENST00000476376:exon12:c.G1431A:p.E477E,ENSG00000174776:ENST00000453925:exon13:c.G1851A:p.E617E,ENSG00000174776:ENST00000308378:exon14:c.G1956A:p.E652E NA NA 3q26.1 NA NA NA NA rs13061106 0.2 0.2 0.186 0.187101 0.0915 0.3849 0.2205 0.1815 0.0654 0.09 0.37 0.19 0.2 0.1313 0.37 . . . . . . . . 1.000 P . . . . -0.931 T 0.000 T . -2.109 0.006 -0.538 -0.185 0.058 4.782 -2.109061 NA NA 0.090116 0.157739 NA 0.152 NA 6.3537506 1025 7 113518502 113518502 A T exonic PPP1R3A NA nonsynonymous SNV PPP1R3A:NM_002711:exon4:c.T2645A:p.L882H exonic ENSG00000154415 NA nonsynonymous SNV ENSG00000154415:ENST00000284601:exon4:c.T2645A:p.L882H NA NA 7q31.1 NA NA NA NA rs2974938 0.97 0.97 0.965 0.969848 0.992 0.999 0.9856 0.9009 0.999 0.99 1 0.99 0.9 0.99 1 0.31 T 0.001 B 0.001 B 0.874 N 1.000 P -0.55 N 2.35 T -1.035 T 0.000 T 0.051 -1.291 0.04 -3.98 -0.444 -2.138 2.178 -1.290617 NA 0.22 0.997674 0.911938 NA 0.942 NA 6.3536594 1025 11 122742050 122742050 T C exonic CRTAM NA synonymous SNV CRTAM:NM_019604:exon10:c.T1125C:p.N375N exonic ENSG00000109943 NA synonymous SNV ENSG00000109943:ENST00000533709:exon5:c.T528C:p.N176N,ENSG00000109943:ENST00000227348:exon10:c.T1125C:p.N375N NA NA 11q24.1 NA Name=GATA-2 NA NA rs34242434 0.13 0.13 0.129 0.139377 0.1004 0.1726 0.0692 0.1846 0.1339 0.1 0.17 0.09 0.15 0.1109 0.25 NA NA 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 0.102 0.161444 NA 0.268 NA 6.3533666 1025 1 27875824 27875824 C T exonic AHDC1 NA nonsynonymous SNV AHDC1:NM_001029882:exon6:c.G2803A:p.A935T exonic ENSG00000126705 NA nonsynonymous SNV ENSG00000126705:ENST00000247087:exon5:c.G2803A:p.A935T,ENSG00000126705:ENST00000374011:exon6:c.G2803A:p.A935T NA NA 1p36.11 Score=755;Name=V$MYOGNF1_01 NA NA NA rs4908364 1 1 0.996 0.998003 0.9911 1 1 1 0.999 0.99 1 1 1 0.9956 1 1 T 0.0 B 0.0 B 0.390 N 1.000 P 0.345 N 0.97 T -0.955 T 0.000 T 0.036 0.569 7.077 -2.09 -0.710 -0.691 7.470 0.569499 NA 1 0.993372 0.997957 NA 1 NA 6.3532614 1025 16 88599023 88599023 A G exonic ZFPM1 NA synonymous SNV ZFPM1:NM_153813:exon8:c.A948G:p.G316G exonic ENSG00000179588 NA synonymous SNV ENSG00000179588:ENST00000319555:exon8:c.A948G:p.G316G Score=527;Name=lod=184 NA 16q24.2 NA NA NA NA rs56041036 0.17 0.17 0.158 0.147963 0.0974 0.3591 0.1484 0.0741 0.0818 0.08 0.38 0.15 0.07 0.1404 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.443936 1.443936 NA 0.076115 0.079165 ID=COSM435907;OCCURENCE=1(breast) 0.123 NA 6.3527516 1025 5 54674296 54674296 A G exonic SKIV2L2 NA synonymous SNV SKIV2L2:NM_015360:exon17:c.A1965G:p.Q655Q exonic ENSG00000039123 NA synonymous SNV ENSG00000039123:ENST00000545714:exon15:c.A1662G:p.Q554Q,ENSG00000039123:ENST00000230640:exon17:c.A1965G:p.Q655Q Score=712;Name=lod=1045 NA 5q11.2 NA NA NA NA rs10471413 0.19 0.19 0.169 0.182508 0.0974 0.2857 0.0937 0.292 0.0787 0.11 0.27 0.1 0.27 0.1179 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.703804 NA NA 0.098929 0.230245 NA 0.167 NA 6.3524376 1025 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 1025 5 54645411 54645411 G A exonic SKIV2L2 NA synonymous SNV SKIV2L2:NM_015360:exon12:c.G1251A:p.K417K exonic ENSG00000039123 NA synonymous SNV ENSG00000039123:ENST00000545714:exon10:c.G948A:p.K316K,ENSG00000039123:ENST00000230640:exon12:c.G1251A:p.K417K Score=652;Name=lod=593 NA 5q11.2 NA NA NA NA rs2061242 0.18 0.18 0.159 0.182109 0.0984 0.2867 0.0937 0.289 0.0787 0.11 0.27 0.1 0.26 0.1174 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.797109 NA NA 0.098605 0.224694 NA 0.174 NA 6.3522616 1025 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$AP4_01 Name=Pol2,Pol2(b),ZBTB7A_(SC-34508),NRSF Name=20 NA rs167772 0.47 0.47 0.453 0.453275 0.5507 0.3968 0.6037 0.3495 0.4448 0.55 0.41 0.61 0.3 0.5333 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.209939 NA NA 0.564085 0.367227 NA 0.507 NA 6.351915 1025 11 65349849 65349849 A T exonic EHBP1L1 NA nonsynonymous SNV EHBP1L1:NM_001099409:exon9:c.A1706T:p.D569V exonic ENSG00000173442 NA nonsynonymous SNV ENSG00000173442:ENST00000309295:exon9:c.A1706T:p.D569V NA NA 11q13.1 Score=790;Name=V$ARP1_01 NA NA NA rs1194099 0.94 0.94 0.942 0.94369 0.998 0.9921 0.9798 0.8048 1 1 0.99 0.98 0.78 0.9855 1 1 T 0.0 B 0.0 B 0.344 N 1.000 P -0.625 N 0.55 T -0.960 T 0.000 T 0.04 -1.137 0.112 -0.383 0.010 -1.072 1.383 -1.137344 NA 1 0.998046 0.847304 NA 0.964 NA 6.3517874 1025 15 42568547 42568547 C G exonic GANC NA nonsynonymous SNV GANC:NM_198141:exon2:c.C31G:p.L11V exonic ENSG00000214013 NA nonsynonymous SNV ENSG00000214013:ENST00000318010:exon2:c.C31G:p.L11V,ENSG00000214013:ENST00000440615:exon2:c.C31G:p.L11V,ENSG00000214013:ENST00000567784:exon2:c.C31G:p.L11V,ENSG00000214013:ENST00000570013:exon2:c.C31G:p.L11V,ENSG00000214013:ENST00000562170:exon3:c.C31G:p.L11V,ENSG00000214013:ENST00000562859:exon3:c.C31G:p.L11V,ENSG00000214013:ENST00000566442:exon3:c.C31G:p.L11V Score=457;Name=lod=96 NA 15q15.1 NA NA NA NA rs8043515 0.97 0.97 0.96 0.954473 0.999 0.9415 0.9942 0.9304 0.9264 1 0.94 1 0.93 0.9837 1 1 T 0.0 B 0.0 B 0.042 N 1.000 P -1.085 N 2.14 T -0.986 T 0.000 T 0.233 -1.488 0.017 1.0 0.111 1.626 6.557 -1.487876 NA 1 0.999186 0.940763 NA 0.964 NA 6.3514474 1025 2 204304214 204304214 G A exonic RAPH1 NA synonymous SNV RAPH1:NM_213589:exon14:c.C3699T:p.P1233P exonic ENSG00000173166 NA synonymous SNV ENSG00000173166:ENST00000319170:exon14:c.C3699T:p.P1233P,ENSG00000173166:ENST00000374493:exon15:c.C3855T:p.P1285P NA NA 2q33.2 Score=885;Name=V$MZF1_02 NA NA NA rs2465520 0.16 0.16 0.163 0.15595 0.1024 0.0754 0.1037 0.3563 0.0603 0.11 0.08 0.11 0.37 0.1126 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.709269 NA NA 0.100233 0.292556 NA 0.217 NA 6.3514336 1025 10 118231360 118231360 G A exonic PNLIPRP3 NA nonsynonymous SNV PNLIPRP3:NM_001011709:exon10:c.G1141A:p.V381I exonic ENSG00000203837 NA nonsynonymous SNV ENSG00000203837:ENST00000369230:exon10:c.G1141A:p.V381I NA NA 10q25.3 NA NA NA NA rs10736251 0.97 0.97 0.97 0.964058 1 1 0.9899 0.8691 1 1 1 0.99 0.88 0.9836 1 0.18 T 0.0 B 0.0 B 0.224 N 1.000 P -1.1 N -0.09 T -0.948 T 0.000 T 0.013 1.165 9.741 -7.38 -2.252 -0.311 10.306 1.164824 NA 0.18 0.998721 0.888334 NA 0.942 NA 6.3510124 1025 20 25187213 25187213 G A exonic ENTPD6 NA nonsynonymous SNV ENTPD6:NM_001247:exon2:c.G41A:p.S14N exonic ENSG00000197586 NA nonsynonymous SNV ENSG00000197586:ENST00000360031:exon2:c.G41A:p.S14N,ENSG00000197586:ENST00000376652:exon2:c.G41A:p.S14N,ENSG00000197586:ENST00000425813:exon2:c.G41A:p.S14N,ENSG00000197586:ENST00000433259:exon2:c.G41A:p.S14N,ENSG00000197586:ENST00000435520:exon4:c.G41A:p.S14N NA NA 20p11.21 NA NA NA NA rs2076559 0.35 0.35 0.34 0.311901 0.3469 0.5903 0.2349 0.0983 0.3323 0.34 0.6 0.26 0.12 0.3137 0.6 0.45 T 0.281 B 0.038 B . . 1.000 P 0.55 N 2.35 T -0.934 T 0.000 T 0.198 0.961 8.922 -0.162 0.004 0.214 3.466 0.961415 NA 0.08 0.321744 0.140944 NA 0.326 NA 6.3509894 1025 4 1165741 1165741 A G exonic SPON2 NA nonsynonymous SNV SPON2:NM_012445:exon2:c.T119C:p.L40P,SPON2:NM_001128325:exon3:c.T119C:p.L40P,SPON2:NM_001199021:exon4:c.T119C:p.L40P exonic ENSG00000159674 NA nonsynonymous SNV ENSG00000159674:ENST00000290902:exon2:c.T119C:p.L40P,ENSG00000159674:ENST00000431380:exon3:c.T119C:p.L40P,ENSG00000159674:ENST00000503765:exon3:c.T119C:p.L40P,ENSG00000159674:ENST00000502483:exon4:c.T119C:p.L40P,ENSG00000159674:ENST00000515004:exon4:c.T119C:p.L40P NA NA 4p16.3 NA NA Name=5 NA rs922697 0.95 0.95 0.94 0.948283 0.997 1 0.9798 0.8169 1 1 1 0.98 0.8 0.9866 1 0.14 T 0.053 B 0.058 B 0.047 N 0.872 P 1.01 L 2.94 T -1.034 T 0.000 T 0.539 0.5 6.711 2.0 -0.125 0.332 10.217 0.49984 NA 0.14 0.999185 0.873124 NA 0.928 NA 6.3505484 1025 15 28096538 28096538 A G exonic OCA2 NA synonymous SNV OCA2:NM_000275:exon22:c.T2328C:p.A776A exonic ENSG00000104044 NA synonymous SNV ENSG00000104044:ENST00000353809:exon21:c.T2256C:p.A752A,ENSG00000104044:ENST00000354638:exon22:c.T2328C:p.A776A Score=477;Name=lod=116 NA 15q12 Score=850;Name=V$EGR1_01 NA NA NA rs1800419 0.45 0.45 0.452 0.502396 0.4374 0.4395 0.3703 0.6286 0.5573 0.41 0.42 0.38 0.6 0.4493 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435238 NA NA 0.429751 0.626645 NA 0.572 NA 6.3502156 1025 17 76433898 76433898 T C exonic DNAH17 NA nonsynonymous SNV DNAH17:NM_173628:exon74:c.A11858G:p.H3953R exonic ENSG00000187775 NA nonsynonymous SNV ENSG00000187775:ENST00000389840:exon74:c.A11840G:p.H3947R,ENSG00000187775:ENST00000585328:exon74:c.A11843G:p.H3948R NA NA 17q25.3 NA NA NA NA rs12941494 0.93 0.93 0.939 0.950879 1 0.999 0.9798 0.826 0.999 0.95 0.98 0.97 0.79 0.9851 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P . . 3.21 T -0.931 T 0.000 T 0.02 -1.031 0.218 4.09 1.148 -0.140 9.434 -1.030639 NA 0.6 0.998139 0.847639 ID=COSM437656;OCCURENCE=1(breast) 0.754 NA 6.3500944 1025 7 94180691 94180691 T C exonic CASD1 NA synonymous SNV CASD1:NM_022900:exon15:c.T1857C:p.A619A exonic ENSG00000127995 NA synonymous SNV ENSG00000127995:ENST00000297273:exon15:c.T1857C:p.A619A Score=646;Name=lod=565 NA 7q21.3 NA NA NA NA rs10280457 0.14 0.14 0.124 0.11901 0.1093 0.1478 0.1124 0.1657 0.0409 0.1 0.17 0.14 0.17 0.1012 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.420984 1.420984 NA 0.106237 0.150772 NA 0.101 NA 6.3499296 1025 7 29152371 29152371 G A exonic CPVL NA synonymous SNV CPVL:NM_019029:exon3:c.C237T:p.T79T,CPVL:NM_031311:exon3:c.C237T:p.T79T exonic ENSG00000106066 NA synonymous SNV ENSG00000106066:ENST00000448959:exon1:c.C27T:p.T9T,ENSG00000106066:ENST00000447426:exon2:c.C27T:p.T9T,ENSG00000106066:ENST00000265394:exon3:c.C237T:p.T79T,ENSG00000106066:ENST00000396276:exon3:c.C237T:p.T79T,ENSG00000106066:ENST00000409850:exon7:c.C237T:p.T79T NA NA 7p14.3 NA NA Name=3 NA rs323182 0.09 0.09 0.09 0.0798722 0.0984 0.0337 0.0778 0.1513 0.0133 0.1 0.02 0.08 0.16 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 0.238915 NA NA 0.117558 0.138901 NA 0.116 NA 6.3497086 1025 12 53693532 53693532 A G exonic C12orf10 NA nonsynonymous SNV C12orf10:NM_021640:exon1:c.A11G:p.Q4R exonic ENSG00000139637 NA nonsynonymous SNV ENSG00000139637:ENST00000267103:exon1:c.A11G:p.Q4R NA NA 12q13.13 NA Name=TAF1,RFX5_(N-494),GABP,Pol2-4H8,ELF1_(SC-631),HNF4A,HEY1,HNF4G_(SC-6558),ETS1,BCLAF1_(M33-P5B11),FOSL2,Pol2,Pol2(phosphoS2),HA-E2F1,TCF12,ELK4,TR4,YY1,HNF4A_(H-171),PU.1,ZNF263,GTF2F1_(RAP-74),BAF155,Max,YY1_(C-20),SRF,Sin3Ak-20,ERalpha_a,SREBP1,Mxi1_(bHLH) Name=146 NA rs1534284 0.94 0.94 0.933 0.949681 1 1 0.9914 0.8139 1 0.99 1 0.98 0.77 0.9845 1 1 T 0.0 B 0.0 B 0.111 N 0.997 P 0 N 1.03 T -0.954 T 0.000 T 0.008 -0.913 0.412 -0.122 -0.053 -0.784 3.389 -0.912663 NA 1 0.999535 0.82433 NA NA NA 6.3492984 1025 1 41976328 41976328 T C exonic HIVEP3 NA nonsynonymous SNV HIVEP3:NM_001127714:exon8:c.A7012G:p.T2338A,HIVEP3:NM_024503:exon9:c.A7015G:p.T2339A exonic ENSG00000127124 NA nonsynonymous SNV ENSG00000127124:ENST00000247584:exon8:c.A7015G:p.T2339A,ENSG00000127124:ENST00000372584:exon8:c.A7012G:p.T2338A,ENSG00000127124:ENST00000429157:exon8:c.A7012G:p.T2338A,ENSG00000127124:ENST00000372583:exon9:c.A7015G:p.T2339A NA NA 1p34.2 NA Name=NRSF NA NA rs9439043 0.97 0.97 0.967 0.963059 0.998 1 0.9899 0.8669 1 1 1 0.99 0.86 0.989 1 1 T 0.0 B 0.001 B 0.392 N 1.000 P -0.55 N 3.45 T -0.989 T 0.000 T 0.02 -2.46 0.003 2.17 0.112 0.034 8.562 -2.459584 NA 1 0.997181 0.914598 NA 0.957 NA 6.3491524 1025 X 150791503 150791503 A G exonic PASD1 NA synonymous SNV PASD1:NM_173493:exon7:c.A513G:p.G171G exonic ENSG00000166049 NA synonymous SNV ENSG00000166049:ENST00000370357:exon7:c.A513G:p.G171G NA NA Xq28 NA Name=PU.1 NA NA rs5924977 0.11 0.11 0.12242 NA NA NA NA NA NA 0.17 0.02 0.11 0.11 0.15 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133731 NA NA 0.167806 0.102999 NA 0.116 NA 6.3488606 1025 22 50657010 50657010 C G exonic TUBGCP6 NA nonsynonymous SNV TUBGCP6:NM_020461:exon22:c.G4861C:p.V1621L exonic ENSG00000128159 NA nonsynonymous SNV ENSG00000128159:ENST00000425018:exon7:c.G919C:p.V307L,ENSG00000128159:ENST00000248846:exon22:c.G4861C:p.V1621L Score=617;Name=lod=428 NA 22q13.33 NA NA NA NA rs4838864 1 1 0.999 0.998802 0.996 1 0.9971 1 1 0.99 1 1 1 0.9956 1 1 T 0.003 B 0.003 B 0.004 N 0.000 P -1.795 N 3.43 T -1.016 T 0.000 T 0.129 -0.148 3.275 1.61 0.194 2.408 1.927 -0.148281 NA 1 0.993023 0.997957 NA 0.978 NA 6.3487104 1025 11 7716855 7716855 T A exonic OVCH2 NA nonsynonymous SNV OVCH2:NM_198185:exon12:c.A1228T:p.N410Y exonic ENSG00000183378 NA nonsynonymous SNV ENSG00000183378:ENST00000454689:exon12:c.A1228T:p.N410Y Score=385;Name=lod=49 NA 11p15.4 NA NA NA NA rs4528317 0.95 0.95 0.938 0.95627 0.998 1 0.9697 0.8517 1 1 1 0.98 0.81 0.9874 1 1 T 0.0 B 0.0 B 0.022 N 0.999 P 0.22 N 2.21 T -0.925 T 0.000 T 0.153 -0.647 1.151 4.38 0.382 -0.041 4.932 -0.646521 NA 0.57 0.999265 0.872259 NA 0.928 NA 6.3486684 1025 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 1025 16 56839439 56839439 C T exonic NUP93 NA synonymous SNV NUP93:NM_001242795:exon3:c.C15T:p.Y5Y,NUP93:NM_001242796:exon3:c.C15T:p.Y5Y,NUP93:NM_014669:exon5:c.C384T:p.Y128Y exonic ENSG00000102900 NA synonymous SNV ENSG00000102900:ENST00000542526:exon3:c.C15T:p.Y5Y,ENSG00000102900:ENST00000564887:exon3:c.C15T:p.Y5Y,ENSG00000102900:ENST00000567081:exon3:c.C15T:p.Y5Y,ENSG00000102900:ENST00000567641:exon3:c.C15T:p.Y5Y,ENSG00000102900:ENST00000568283:exon3:c.C15T:p.Y5Y,ENSG00000102900:ENST00000569863:exon4:c.C15T:p.Y5Y,ENSG00000102900:ENST00000308159:exon5:c.C384T:p.Y128Y,ENSG00000102900:ENST00000562496:exon5:c.C384T:p.Y128Y,ENSG00000102900:ENST00000568656:exon5:c.C384T:p.Y128Y,ENSG00000102900:ENST00000569842:exon5:c.C384T:p.Y128Y,ENSG00000102900:ENST00000566315:exon6:c.C384T:p.Y128Y Score=575;Name=lod=289 NA 16q13 NA NA NA NA rs1803870 0.1 0.1 0.083 0.0992412 0.1074 0.1558 0.1239 0.0477 0.0849 0.11 0.13 0.1 0.05 0.1012 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.909305 NA NA 0.109535 0.0596 NA 0.051 NA 6.3485316 1025 10 47000004 47000004 T C exonic GPRIN2 NA nonsynonymous SNV GPRIN2:NM_014696:exon3:c.T1124C:p.V375A exonic ENSG00000204175 NA nonsynonymous SNV ENSG00000204175:ENST00000374314:exon1:c.T1124C:p.V375A,ENSG00000204175:ENST00000374317:exon3:c.T1124C:p.V375A NA NA 10q11.22 Score=811;Name=V$PAX2_01 Name=CTCF NA NA rs3127822 0.96 0.96 0.962 0.945887 1 0.999 0.9726 0.8101 1 1 1 0.98 0.83 0.9861 1 1 T 0.0 B 0.0 B 0.547 N 1.000 P -2.175 N 2.08 T -1.001 T 0.000 T 0.034 -2.343 0.004 1.74 -0.061 0.047 8.915 -2.342671 NA 1 0.998837 0.858829 NA 0.964 NA 6.3483964 1025 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 1025 3 52867715 52867715 G C exonic MUSTN1,TMEM110-MUSTN1 NA nonsynonymous SNV MUSTN1:NM_205853:exon2:c.C60G:p.D20E,TMEM110-MUSTN1:NM_001198974:exon9:c.C930G:p.D310E exonic ENSG00000243696,ENSG00000248592 NA nonsynonymous SNV ENSG00000243696:ENST00000446157:exon2:c.C60G:p.D20E,ENSG00000243696:ENST00000468472:exon2:c.C60G:p.D20E,ENSG00000243696:ENST00000486659:exon2:c.C75G:p.D25E,ENSG00000248592:ENST00000504329:exon9:c.C930G:p.D310E Score=536;Name=lod=201 NA 3p21.1 NA NA NA NA rs6787916 0.96 0.96 0.956 0.951478 0.999 1 0.9798 0.8275 1 1 1 0.98 0.85 0.9874 1 1 T 0.0 B 0.0 B . . 0.994 P -0.75 N . . -0.957 T 0.000 T 0.138 1.812 12.02 3.41 0.224 0.446 7.126 1.811805 1.811805 1 0.99927 0.851546 NA 0.913 NA 6.3476634 1025 5 54572163 54572163 T C exonic DHX29 NA synonymous SNV DHX29:NM_019030:exon14:c.A2358G:p.K786K exonic ENSG00000067248 NA synonymous SNV ENSG00000067248:ENST00000251636:exon14:c.A2358G:p.K786K Score=639;Name=lod=528 NA 5q11.2 NA NA NA NA rs3761764 0.22 0.22 0.182 0.184505 0.0994 0.2877 0.0965 0.2943 0.0798 0.14 0.29 0.1 0.35 0.1185 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.843776 NA NA 0.101164 0.223433 NA 0.181 NA 6.3476026 1025 12 58019472 58019472 T G exonic SLC26A10 NA nonsynonymous SNV SLC26A10:NM_133489:exon14:c.T1636G:p.L546V exonic;splicing ENSG00000135502;ENSG00000135502 ENST00000474359:exon17:c.2021+2T>G nonsynonymous SNV ENSG00000135502:ENST00000320442:exon14:c.T1636G:p.L546V Score=503;Name=lod=148 NA 12q13.3 NA NA NA NA rs774895 0.97 0.97 0.959 0.959265 0.999 1 0.9899 0.8517 1 1 1 0.99 0.86 0.9878 1 0.29 T 0.0 B 0.0 B . . 0.000 P 0 N -3.13 D -0.988 T 0.000 T 0.034 0.952 8.881 1.54 0.290 0.267 7.331 0.951739 NA 0.44 0.99907 0.884249 NA 0.942 NA 6.3474634 1025 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 1025 11 63997338 63997338 T C exonic NUDT22 NA nonsynonymous SNV NUDT22:NM_001128613:exon5:c.T689C:p.L230P,NUDT22:NM_001271831:exon5:c.T689C:p.L230P,NUDT22:NM_001128612:exon6:c.T788C:p.L263P,NUDT22:NM_032344:exon6:c.T788C:p.L263P exonic ENSG00000149761 NA nonsynonymous SNV ENSG00000149761:ENST00000534929:exon2:c.T47C:p.L16P,ENSG00000149761:ENST00000441250:exon5:c.T689C:p.L230P,ENSG00000149761:ENST00000279206:exon6:c.T788C:p.L263P Score=284;Name=lod=19 NA 11q13.1 NA NA NA NA rs633557 0.97 0.97 0.957 0.953474 1 1 0.9841 0.8321 1 1 1 0.98 0.86 0.9868 1 0.26 T 0.0 B 0.001 B 0.088 N 0.551 P 0 N 2.28 T -1.065 T 0.000 T 0.225 1.856 12.16 1.24 -0.106 1.209 2.250 1.85562 1.85562 0.3 0.999302 0.858928 NA 0.964 NA 6.3472314 1025 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 1025 3 113890815 113890815 C T exonic DRD3 NA nonsynonymous SNV DRD3:NM_000796:exon2:c.G25A:p.G9S,DRD3:NM_033663:exon2:c.G25A:p.G9S exonic ENSG00000151577 NA nonsynonymous SNV ENSG00000151577:ENST00000295881:exon2:c.G25A:p.G9S,ENSG00000151577:ENST00000383673:exon2:c.G25A:p.G9S,ENSG00000151577:ENST00000460779:exon3:c.G25A:p.G9S,ENSG00000151577:ENST00000467632:exon3:c.G25A:p.G9S NA NA 3q13.31 NA NA NA NA rs6280 0.55 0.55 0.514 0.513578 0.664 0.6935 0.5735 0.1815 0.5798 0.65 0.69 0.61 0.18 0.6568 0.69 0.54 T 0.0 B 0.0 B 0.369 N 1.000 P . . -0.52 T -0.929 T 0.000 T 0.054 0.89 8.616 -1.48 -0.171 -0.099 9.571 0.890253 NA 0.6 0.665775 0.276113 NA 0.522 CLINSIG=other|other;CLNDBN=Schizophrenia\x2c_susceptibility_to|Essential_tremor\x2c_susceptibility_to;CLNREVSTAT=single|single;CLNACC=RCV000018257.1|RCV000018258.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.3467584 1025 3 439963 439963 A G exonic CHL1 NA nonsynonymous SNV CHL1:NM_001253387:exon24:c.A3100G:p.I1034V,CHL1:NM_006614:exon25:c.A3148G:p.I1050V exonic ENSG00000134121 NA nonsynonymous SNV ENSG00000134121:ENST00000397491:exon24:c.A3100G:p.I1034V,ENSG00000134121:ENST00000256509:exon25:c.A3148G:p.I1050V NA NA 3p26.3 NA NA NA NA rs6442827 0.96 0.96 0.952 0.958466 1 1 0.9841 0.851 1 1 1 0.98 0.84 0.9883 1 0.88 T 0.001 B 0.003 B 0.949 N 1.000 P -0.145 N 0.23 T -0.995 T 0.000 T 0.018 0.646 7.467 -4.87 -0.712 1.003 8.232 0.645869 NA 0.54 0.999651 0.88493 NA 0.906 NA 6.3453824 1025 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 1025 15 54008845 54008845 T C exonic WDR72 NA nonsynonymous SNV WDR72:NM_182758:exon4:c.A298G:p.M100V exonic ENSG00000166415 NA nonsynonymous SNV ENSG00000166415:ENST00000559418:exon3:c.A298G:p.M100V,ENSG00000166415:ENST00000360509:exon4:c.A298G:p.M100V,ENSG00000166415:ENST00000396328:exon4:c.A298G:p.M100V,ENSG00000166415:ENST00000557913:exon4:c.A298G:p.M100V,ENSG00000166415:ENST00000560036:exon5:c.A298G:p.M100V Score=414;Name=lod=64 NA 15q21.3 NA NA NA NA rs690346 0.96 0.96 0.958 0.959465 1 1 0.9798 0.857 1 1 1 0.98 0.84 0.9882 1 0.88 T 0.0 B 0.0 B 0.006 N 1.000 P -1.04 N 1.26 T -0.974 T 0.000 T 0.074 0.246 5.33 2.26 0.303 0.915 8.131 0.246235 NA 0.84 0.999884 0.880128 NA 0.949 NA 6.3452494 1025 10 118231363 118231363 A G exonic PNLIPRP3 NA nonsynonymous SNV PNLIPRP3:NM_001011709:exon10:c.A1144G:p.R382G exonic ENSG00000203837 NA nonsynonymous SNV ENSG00000203837:ENST00000369230:exon10:c.A1144G:p.R382G NA NA 10q25.3 NA NA NA NA rs1897519 0.98 0.98 0.972 0.96845 1 1 0.9914 0.885 1 1 1 0.99 0.9 0.9894 1 1 T 0.0 B 0.0 B 0.063 N 1.000 P -2.525 N 0.59 T -0.965 T 0.000 T 0.022 -0.7 0.97 4.18 1.084 0.528 9.955 -0.700475 NA 1 0.998721 0.893781 NA 0.964 NA 6.3452124 1026 1 204379617 204379617 T C exonic PPP1R15B NA nonsynonymous SNV PPP1R15B:NM_032833:exon1:c.A923G:p.N308S exonic ENSG00000158615 NA nonsynonymous SNV ENSG00000158615:ENST00000367188:exon1:c.A923G:p.N308S NA NA 1q32.1 Score=881;Name=V$SRY_02 Name=Pol2,ZNF263,c-Myc NA NA rs3014626 0.97 0.97 0.967 0.96885 0.998 1 0.9914 0.888 1 1 1 0.99 0.88 0.9914 1 1 T 0.0 B 0.0 B 0.241 N 1.000 P -1.295 N 1.89 T -0.999 T 0.000 T 0.024 -0.304 2.552 1.5 -0.231 0.016 4.317 -0.303823 NA 1 0.999186 0.908988 NA 0.957 NA 6.3447474 1026 11 64116843 64116843 A C exonic CCDC88B NA nonsynonymous SNV CCDC88B:NM_032251:exon15:c.A2657C:p.D886A exonic ENSG00000168071 NA nonsynonymous SNV ENSG00000168071:ENST00000359902:exon2:c.A113C:p.D38A,ENSG00000168071:ENST00000356786:exon15:c.A2657C:p.D886A Score=378;Name=lod=46 NA 11q13.1 Score=749;Name=V$HEN1_02 NA NA NA rs1318165 0.97 0.97 0.96 0.961861 1 1 0.9856 0.8631 1 1 1 0.98 0.89 0.9898 1 0.98 T 0.002 B 0.002 B . . 0.629 P -0.665 N 1.99 T -0.960 T 0.000 T 0.05 -0.462 1.864 0.098 -0.011 -0.843 10.302 -0.462029 NA 0.3 0.999069 0.884493 NA 0.957 NA 6.3444644 1026 11 7059960 7059960 A C exonic NLRP14 NA nonsynonymous SNV NLRP14:NM_176822:exon2:c.A143C:p.N48T exonic ENSG00000158077 NA nonsynonymous SNV ENSG00000158077:ENST00000299481:exon2:c.A143C:p.N48T Score=374;Name=lod=44 NA 11p15.4 NA NA NA NA rs12801277 0.97 0.97 0.949 0.966054 1 1 0.9928 0.8752 1 1 1 0.99 0.86 0.9896 1 0.97 T 0.0 B 0.0 B 0.913 N 1.000 P -1.585 N 0.87 T -0.989 T 0.000 T 0.01 -0.302 2.561 2.36 0.073 -0.133 7.225 -0.301808 NA 1 0.999534 0.893685 NA 0.964 NA 6.3441994 1026 7 91714911 91714911 C T exonic AKAP9 NA nonsynonymous SNV AKAP9:NM_005751:exon36:c.C8935T:p.P2979S,AKAP9:NM_147185:exon36:c.C8911T:p.P2971S exonic ENSG00000127914 NA nonsynonymous SNV ENSG00000127914:ENST00000394534:exon10:c.C2473T:p.P825S,ENSG00000127914:ENST00000358100:exon35:c.C8785T:p.P2929S,ENSG00000127914:ENST00000356239:exon36:c.C8935T:p.P2979S,ENSG00000127914:ENST00000359028:exon36:c.C8947T:p.P2983S Score=470;Name=lod=108 NA 7q21.2 NA NA NA NA rs1063242 1 1 1 0.998802 0.997 1 0.9986 1 0.998 1 1 1 1 0.9962 1 1 T 0.0 B 0.0 B 0.475 N 0.001 P -1.725 N 4.21 T -1.027 T 0.000 T 0.22 0 4.014 2.47 0.093 0.624 1.723 -0.000082 NA 0.34 0.996163 0.999773 NA 0.804 NA 6.3439704 1026 5 140011468 140011468 C G exonic CD14 NA synonymous SNV CD14:NM_000591:exon2:c.G1101C:p.L367L,CD14:NM_001040021:exon3:c.G1101C:p.L367L,CD14:NM_001174104:exon3:c.G1101C:p.L367L,CD14:NM_001174105:exon3:c.G1101C:p.L367L exonic ENSG00000170458 NA synonymous SNV ENSG00000170458:ENST00000302014:exon2:c.G1101C:p.L367L,ENSG00000170458:ENST00000401743:exon3:c.G1101C:p.L367L Score=284;Name=lod=19 NA 5q31.3 NA NA NA NA rs4914 0.07 0.07 0.077 0.0636981 0.1093 0.0238 0.072 0.0651 0.0501 0.11 0.02 0.08 0.08 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 0.298343 NA NA 0.115465 0.077621 NA 0.029 NA 6.3439016 1026 11 17452492 17452492 G A exonic ABCC8 NA synonymous SNV ABCC8:NM_000352:exon12:c.C1686T:p.H562H exonic ENSG00000006071 NA synonymous SNV ENSG00000006071:ENST00000302539:exon12:c.C1686T:p.H562H,ENSG00000006071:ENST00000389817:exon12:c.C1686T:p.H562H,ENSG00000006071:ENST00000527905:exon12:c.C1686T:p.H562H Score=533;Name=lod=195 NA 11p15.1 Score=1000;Name=V$ATF6_01 NA NA NA rs1799857 0.39 0.39 0.425 0.429912 0.4404 0.3125 0.3516 0.4841 0.5225 0.42 0.28 0.37 0.46 0.4311 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.793421 NA NA 0.451433 0.472955 NA 0.457 NA 6.3437336 1026 11 5172786 5172786 A G exonic OR52A1 NA nonsynonymous SNV OR52A1:NM_012375:exon1:c.T814C:p.S272P exonic ENSG00000182070 NA nonsynonymous SNV ENSG00000182070:ENST00000328942:exon1:c.T814C:p.S272P,ENSG00000182070:ENST00000380367:exon2:c.T814C:p.S272P NA NA 11p15.4 NA NA NA NA rs10768611 0.97 0.97 0.968 0.967652 0.999 1 0.9813 0.888 1 1 1 0.98 0.89 0.9912 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.395 N 8.41 T -0.951 T 0.000 T 0.032 -1.115 0.13 4.33 1.470 0.233 7.010 -1.114835 NA 1 0.999535 0.905952 NA 0.986 NA 6.3435984 1026 16 16271357 16271357 T C exonic ABCC6 NA nonsynonymous SNV ABCC6:NM_001171:exon19:c.A2542G:p.M848V exonic ENSG00000091262 NA nonsynonymous SNV ENSG00000091262:ENST00000205557:exon19:c.A2542G:p.M848V NA NA 16p13.11 NA NA NA NA rs6416668 0.98 0.98 0.976 0.964257 1 1 0.987 0.8714 1 1 1 0.99 0.92 0.9902 1 0.17 T 0.0 B 0.0 B 0.615 N 1.000 P 0 N -2.59 D -0.945 T 0.000 T 0.065 -0.61 1.282 1.01 0.211 1.463 5.437 -0.610191 NA 0.37 0.999535 0.895767 NA 0.971 NA 6.3435984 1026 1 247695756 247695756 T C exonic OR2C3 NA nonsynonymous SNV OR2C3:NM_198074:exon2:c.A58G:p.T20A exonic ENSG00000196242 NA nonsynonymous SNV ENSG00000196242:ENST00000366487:exon2:c.A58G:p.T20A NA NA 1q44 NA NA NA NA rs6697472 0.98 0.98 0.981 0.977037 0.999 1 0.9885 0.9198 1 1 1 0.99 0.91 0.9925 1 0.04 D 0.0 B 0.0 B 0.473 N 1.000 P 0.195 N 8.13 T -0.912 T 0.000 T 0.004 1.539 11.1 2.04 0.094 -0.679 3.392 1.538504 1.538504 0.05 0.998256 0.926237 NA 0.971 NA 6.3435774 1026 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 1026 10 12111090 12111090 T C exonic DHTKD1 NA nonsynonymous SNV DHTKD1:NM_018706:exon1:c.T58C:p.F20L exonic ENSG00000181192 NA nonsynonymous SNV ENSG00000181192:ENST00000263035:exon1:c.T58C:p.F20L,ENSG00000181192:ENST00000437298:exon1:c.T58C:p.F20L NA NA 10p14 NA Name=YY1_(C-20),Oct-2,Sin3Ak-20,AP-2gamma,TBP,AP-2alpha,YY1,ZBTB7A_(SC-34508),Pol2,TAF7_(SQ-8),POU2F2,CTCF,TAF1,BCL3,NFKB,Pol2-4H8,HEY1,ETS1 NA NA rs1279138 0.98 0.98 0.98 0.970248 1 1 0.9928 0.8911 1 1 1 0.99 0.92 0.9907 1 0.38 T 0.0 B 0.0 B 0.013 N 1.000 P -0.895 N 3.69 T -1.053 T 0.000 T 0.377 -0.338 2.397 -0.088 -0.905 -1.173 4.277 -0.338458 NA 1 0.9993 0.905251 NA 0.703 NA 6.3433334 1026 4 83838217 83838217 G A exonic THAP9 NA nonsynonymous SNV THAP9:NM_024672:exon5:c.G852A:p.M284I exonic ENSG00000168152 NA nonsynonymous SNV ENSG00000168152:ENST00000302236:exon5:c.G852A:p.M284I NA NA 4q21.22 NA NA NA NA rs1031639 0.99 0.99 0.981 0.97484 0.998 1 1 0.9077 0.998 1 1 1 0.94 0.9928 1 0.55 T 0.0 B 0.0 B 0.127 N 1.000 P 0.05 N 1.94 T -1.044 T 0.000 T 0.087 -1.733 0.011 -7.84 -2.419 -0.696 6.357 -1.733485 NA 0.99 0.999302 0.937812 NA 0.978 NA 6.3432314 1026 16 84520537 84520537 T C exonic TLDC1 NA nonsynonymous SNV TLDC1:NM_020947:exon5:c.A658G:p.I220V exonic ENSG00000140950 NA nonsynonymous SNV ENSG00000140950:ENST00000343629:exon5:c.A658G:p.I220V,ENSG00000140950:ENST00000535580:exon6:c.A577G:p.I193V NA NA 16q24.1 NA Name=CTCF NA NA rs431818 0.98 0.98 0.978 0.983027 0.999 1 0.9856 0.9448 0.999 1 1 0.99 0.94 0.9937 1 1 T 0.0 B 0.0 B 0.024 N 1.000 P -0.455 N 3.34 T -0.995 T 0.000 T 0.027 -2.3 0.004 -2.68 -0.844 -0.439 5.099 -2.299647 NA 1 0.997442 0.953182 NA 1 NA 6.3431914 1026 4 83839799 83839799 A G exonic THAP9 NA nonsynonymous SNV THAP9:NM_024672:exon5:c.A2434G:p.N812D exonic ENSG00000168152 NA nonsynonymous SNV ENSG00000168152:ENST00000302236:exon5:c.A2434G:p.N812D NA NA 4q21.22 NA NA NA NA rs6535411 0.99 0.99 0.982 0.97484 0.998 1 1 0.9077 0.998 1 1 1 0.94 0.993 1 0.87 T 0.0 B 0.0 B 0.006 N 1.000 P 0 N -2.65 D -0.915 T 0.000 T 0.011 -2.928 0.001 -3.23 -0.930 -0.230 1.372 -2.928158 NA 0.85 0.999302 0.938266 NA 0.978 NA 6.3430314 1026 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 1026 5 176951276 176951276 A G exonic FAM193B NA nonsynonymous SNV FAM193B:NM_001190946:exon6:c.T2206C:p.S736P exonic ENSG00000146067 NA nonsynonymous SNV ENSG00000146067:ENST00000507212:exon1:c.T220C:p.S74P,ENSG00000146067:ENST00000514747:exon6:c.T2206C:p.S736P,ENSG00000146067:ENST00000443375:exon8:c.T2107C:p.S703P,ENSG00000146067:ENST00000329540:exon9:c.T1084C:p.S362P Score=300;Name=lod=22 NA 5q35.3 NA NA NA NA rs337382 0.98 0.98 0.975 0.970847 0.999 1 0.9928 0.8941 1 1 1 0.99 0.89 0.9921 1 1 T 0.0 B 0.0 B 0.300 N 1.000 P . . 0.64 T -0.931 T 0.000 T 0.218 -0.208 2.99 2.87 0.066 0.014 8.964 -0.208409 NA 1 0.999762 0.908498 NA 0.971 NA 6.3424714 1026 12 40619082 40619082 G A exonic LRRK2 NA nonsynonymous SNV LRRK2:NM_198578:exon1:c.G149A:p.R50H exonic ENSG00000188906 NA nonsynonymous SNV ENSG00000188906:ENST00000298910:exon1:c.G149A:p.R50H,ENSG00000188906:ENST00000343742:exon1:c.G149A:p.R50H NA NA 12q12 NA NA Name=3 NA rs2256408 0.97 0.97 0.969 0.969249 1 1 0.9942 0.8865 1 1 1 0.99 0.89 0.9911 1 1 T 0.0 B 0.0 B 0.491 N 1.000 P -0.205 N 1.0 T -0.974 T 0.000 T 0.188 -0.451 1.908 -1.31 -0.564 0.204 6.763 -0.451308 NA 0.47 0.999767 0.898547 NA 0.935 CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=single;CLNACC=RCV000032408.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 6.3424664 1026 6 10587038 10587038 C G exonic GCNT2 NA nonsynonymous SNV GCNT2:NM_145655:exon1:c.C816G:p.D272E exonic ENSG00000111846 NA nonsynonymous SNV ENSG00000111846:ENST00000265012:exon1:c.C816G:p.D272E Score=483;Name=lod=122 NA 6p24.3 NA NA NA NA rs539351 0.99 0.99 0.993 0.983027 1 0.9187 1 1 0.9969 1 0.95 1 1 0.9924 1 1 T 0.0 B 0.001 B . . 0.000 P -0.85 N 2.89 T -0.912 T 0.003 T 0.027 -0.561 1.468 2.56 0.272 -0.623 13.140 -0.560708 NA 1 0.998721 0.999546 NA 0.993 NA 6.3422124 1026 20 44806643 44806643 G A exonic CDH22 NA synonymous SNV CDH22:NM_021248:exon11:c.C1857T:p.A619A exonic ENSG00000149654 NA synonymous SNV ENSG00000149654:ENST00000372262:exon10:c.C1857T:p.A619A,ENSG00000149654:ENST00000537909:exon11:c.C1857T:p.A619A NA NA 20q13.12 Score=792;Name=V$PAX2_01 NA NA NA rs34603854 0.05 0.05 0.061 0.0559105 0.1024 0.0129 0.0764 0.031 0.0716 0.1 0.01 0.07 0.03 0.0977 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 1.055074 NA NA 0.124419 0.054017 NA 0.043 NA 6.3421476 1026 14 58953746 58953746 C G exonic KIAA0586 NA nonsynonymous SNV KIAA0586:NM_001244193:exon19:c.C2746G:p.P916A,KIAA0586:NM_014749:exon21:c.C2938G:p.P980A,KIAA0586:NM_001244191:exon22:c.C2911G:p.P971A,KIAA0586:NM_001244190:exon23:c.C3121G:p.P1041A,KIAA0586:NM_001244192:exon23:c.C3034G:p.P1012A,KIAA0586:NM_001244189:exon24:c.C3325G:p.P1109A exonic ENSG00000100578 NA nonsynonymous SNV ENSG00000100578:ENST00000261244:exon21:c.C2938G:p.P980A,ENSG00000100578:ENST00000423743:exon23:c.C3034G:p.P1012A,ENSG00000100578:ENST00000556134:exon23:c.C3121G:p.P1041A,ENSG00000100578:ENST00000354386:exon24:c.C3325G:p.P1109A Score=455;Name=lod=94 NA 14q23.1 NA NA NA NA rs1617510 0.98 0.98 0.988 0.974042 0.999 0.999 0.9957 0.9054 1 1 1 1 0.93 0.9929 1 0.9 T 0.0 B 0.002 B 0.007 N 1.000 P -0.76 N 1.11 T -0.944 T 0.000 T 0.071 -1.709 0.011 2.23 0.335 0.393 11.225 -1.708641 NA 1 0.999394 0.930809 NA 0.993 NA 6.3420394 1026 11 32954344 32954344 G A exonic QSER1 NA nonsynonymous SNV QSER1:NM_001076786:exon4:c.G1153A:p.V385I exonic ENSG00000060749 NA nonsynonymous SNV ENSG00000060749:ENST00000399302:exon4:c.G1153A:p.V385I NA NA 11p13 NA NA NA NA rs1022586 0.98 0.98 0.979 0.971246 1 1 0.9942 0.8941 1 1 1 0.99 0.94 0.9915 1 1 T 0.0 B 0.0 B 0.024 N 1.000 P -0.345 N 1.06 T -0.960 T 0.000 T 0.032 -0.64 1.173 -5.6 -1.598 -0.032 10.008 -0.640328 NA 1 0.999877 0.912405 NA 0.986 NA 6.3419564 1026 1 111861822 111861822 G A exonic CHIA NA synonymous SNV CHIA:NM_001258002:exon6:c.G513A:p.V171V,CHIA:NM_021797:exon7:c.G672A:p.V224V,CHIA:NM_001040623:exon8:c.G513A:p.V171V,CHIA:NM_001258003:exon8:c.G672A:p.V224V,CHIA:NM_001258001:exon9:c.G672A:p.V224V,CHIA:NM_001258005:exon9:c.G513A:p.V171V,CHIA:NM_001258004:exon10:c.G513A:p.V171V,CHIA:NM_201653:exon10:c.G996A:p.V332V exonic ENSG00000134216 NA synonymous SNV ENSG00000134216:ENST00000483391:exon6:c.G513A:p.V171V,ENSG00000134216:ENST00000422815:exon7:c.G828A:p.V276V,ENSG00000134216:ENST00000489524:exon7:c.G513A:p.V171V,ENSG00000134216:ENST00000353665:exon8:c.G513A:p.V171V,ENSG00000134216:ENST00000430615:exon8:c.G672A:p.V224V,ENSG00000134216:ENST00000343320:exon9:c.G996A:p.V332V,ENSG00000134216:ENST00000451398:exon9:c.G513A:p.V171V,ENSG00000134216:ENST00000369740:exon10:c.G996A:p.V332V Score=432;Name=lod=76 NA 1p13.2 NA NA NA NA rs17027410 0.07 0.07 0.072 0.0746805 0.1093 NA 0.0735 0.0893 0.0971 0.12 NA 0.09 0.09 0.0979 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 0.849173 NA NA 0.117791 0.098048 NA 0.043 NA 6.3416756 1026 20 44806727 44806727 G A exonic CDH22 NA synonymous SNV CDH22:NM_021248:exon11:c.C1773T:p.S591S exonic ENSG00000149654 NA synonymous SNV ENSG00000149654:ENST00000372262:exon10:c.C1773T:p.S591S,ENSG00000149654:ENST00000537909:exon11:c.C1773T:p.S591S Score=431;Name=lod=75 NA 20q13.12 NA NA NA NA rs35585191 0.06 0.06 0.061 0.0569089 0.1024 0.0129 0.0764 0.034 0.0726 0.1 0.01 0.07 0.03 0.0983 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 1.306533 1.306533 NA 0.124419 0.054017 NA 0.043 NA 6.3415476 1026 11 55761221 55761221 C T exonic OR5F1 NA nonsynonymous SNV OR5F1:NM_003697:exon1:c.G881A:p.S294N exonic ENSG00000149133 NA nonsynonymous SNV ENSG00000149133:ENST00000278409:exon1:c.G881A:p.S294N NA NA 11q12.1 NA NA NA NA rs2449134 0.98 0.98 0.961 0.972843 1 1 0.9899 0.9024 1 1 1 0.99 0.9 0.9925 1 1 T 0.0 B 0.0 B . . 1.000 P -1.99 N 1.41 T -0.995 T 0.000 T 0.022 -2.662 0 2.99 0.218 0.990 7.209 -2.6616 NA 1 0.999302 0.921172 NA 0.978 NA 6.3415314 1026 7 103124207 103124207 T C exonic RELN NA synonymous SNV RELN:NM_005045:exon62:c.A10074G:p.A3358A,RELN:NM_173054:exon62:c.A10074G:p.A3358A exonic ENSG00000189056 NA synonymous SNV ENSG00000189056:ENST00000343529:exon62:c.A10074G:p.A3358A,ENSG00000189056:ENST00000424685:exon62:c.A10074G:p.A3358A,ENSG00000189056:ENST00000428762:exon62:c.A10074G:p.A3358A NA NA 7q22.1 NA NA NA NA rs1062831 0.21 0.21 0.176 0.231629 0.0954 0.2659 0.147 0.3828 0.1922 0.09 0.26 0.14 0.39 0.1389 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582994 NA NA 0.091047 0.338175 NA 0.283 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081221.3;CLNDSDB=.;CLNDSDBID=. 6.3413196 1026 7 56136260 56136260 C A exonic SUMF2 NA nonsynonymous SNV SUMF2:NM_001042469:exon2:c.C210A:p.D70E,SUMF2:NM_001042470:exon2:c.C210A:p.D70E,SUMF2:NM_001130069:exon2:c.C210A:p.D70E,SUMF2:NM_015411:exon2:c.C210A:p.D70E exonic ENSG00000129103 NA nonsynonymous SNV ENSG00000129103:ENST00000342190:exon2:c.C210A:p.D70E,ENSG00000129103:ENST00000395435:exon2:c.C210A:p.D70E,ENSG00000129103:ENST00000395436:exon2:c.C210A:p.D70E,ENSG00000129103:ENST00000413756:exon2:c.C153A:p.D51E,ENSG00000129103:ENST00000413952:exon2:c.C210A:p.D70E,ENSG00000129103:ENST00000423763:exon2:c.C153A:p.D51E,ENSG00000129103:ENST00000434526:exon2:c.C210A:p.D70E,ENSG00000129103:ENST00000436782:exon2:c.C153A:p.D51E,ENSG00000129103:ENST00000437307:exon2:c.C153A:p.D51E,ENSG00000129103:ENST00000438133:exon2:c.C153A:p.D51E,ENSG00000129103:ENST00000447501:exon2:c.C153A:p.D51E,ENSG00000129103:ENST00000451338:exon2:c.C144A:p.D48E Score=517;Name=lod=169 NA 7p11.2 NA NA NA NA rs4245575 1 1 1 0.998802 0.995 1 0.9986 1 1 1 1 1 1 0.9989 1 1 T 0.058 B 0.016 B 0.000 N 0.000 P -2.49 N -3.03 D -0.952 T 0.000 T 0.194 -1.118 0.127 0.954 0.043 0.623 4.789 -1.118066 NA 1 0.998372 0.999092 NA 0.957 NA 6.3410614 1026 17 79424516 79424516 A G exonic BAHCC1 NA unknown UNKNOWN exonic ENSG00000171282 NA nonsynonymous SNV ENSG00000171282:ENST00000307745:exon21:c.A4939G:p.T1647A NA NA 17q25.3 NA NA NA NA rs12601317 0.69 0.69 0.695 0.645767 0.7893 0.4266 0.7954 0.7307 0.5031 0.78 0.45 0.84 0.71 0.7368 0.84 0.52 T 0.0 B 0.0 B 0.994 N 1.000 P -1.175 N 2.8 T -1.024 T 0.000 T 0.156 -0.631 1.205 -3.3 -0.167 -1.163 1.463 -0.631496 NA 1 0.799668 0.777379 NA 0.522 NA 6.3408987 1026 X 151303393 151303393 C T exonic MAGEA10 NA nonsynonymous SNV MAGEA10:NM_021048:exon4:c.G700A:p.V234I,MAGEA10:NM_001011543:exon5:c.G700A:p.V234I,MAGEA10:NM_001251828:exon5:c.G700A:p.V234I exonic ENSG00000124260 NA nonsynonymous SNV ENSG00000124260:ENST00000370323:exon4:c.G700A:p.V234I,ENSG00000124260:ENST00000244096:exon5:c.G700A:p.V234I NA NA Xq28 NA NA NA NA rs210586 0.99 0.99 NA NA NA NA NA NA NA 1 1 1 0.95 0.993 1 1 T 0.001 B 0.002 B 0.000 N 1.000 P -2.96 N 4.01 T -1.022 T 0.000 T 0.172 -0.406 2.101 2.6 0.292 0.851 4.059 -0.406099 NA 1 0.999703 0.928553 NA 0.725 NA 6.3406304 1026 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 1026 2 17954027 17954027 G A exonic GEN1 NA nonsynonymous SNV GEN1:NM_001130009:exon8:c.G929A:p.S310N,GEN1:NM_182625:exon8:c.G929A:p.S310N exonic ENSG00000178295 NA nonsynonymous SNV ENSG00000178295:ENST00000528873:exon3:c.G242A:p.S81N,ENSG00000178295:ENST00000317402:exon8:c.G929A:p.S310N,ENSG00000178295:ENST00000381254:exon8:c.G929A:p.S310N NA NA 2p24.2 NA NA NA NA rs300175 0.99 0.99 0.988 0.977037 1 1 0.9986 0.9387 0.9663 1 1 1 0.95 0.9932 1 0.44 T 0.001 B 0.001 B 0.252 N 1.000 P -0.895 N 0.81 T -0.973 T 0.000 T 0.085 -0.444 1.94 -11.3 -3.417 -2.195 6.736 -0.443742 NA 0.47 0.999767 0.951884 NA 0.986 NA 6.3403664 1026 12 10999708 10999708 T C exonic PRR4 NA nonsynonymous SNV PRR4:NM_001098538:exon3:c.A127G:p.R43G,PRR4:NM_007244:exon3:c.A359G:p.Q120R exonic ENSG00000111215 NA nonsynonymous SNV ENSG00000111215:ENST00000228811:exon3:c.A359G:p.Q120R,ENSG00000111215:ENST00000544994:exon3:c.A127G:p.R43G NA NA 12p13.2 NA NA NA NA rs1047699 0.77 0.77 0.732 0.73742 0.8429 0.9196 0.8501 0.3684 0.8599 0.85 0.94 0.84 0.41 0.8221 0.94 0.52 T 0.689 P 0.065 B 0.196 N 1.000 P . . 2.37 T -1.043 T 0.000 T 0.054 -1.116 0.129 -1.49 -1.350 -1.949 . -1.116382 NA 0.99 0.828106 0.465352 NA 0.79 NA 6.3402274 1026 6 43306346 43306346 A G exonic ZNF318 NA nonsynonymous SNV ZNF318:NM_014345:exon10:c.T5390C:p.V1797A exonic ENSG00000171467 NA nonsynonymous SNV ENSG00000171467:ENST00000361428:exon10:c.T5390C:p.V1797A NA NA 6p21.1 NA NA NA NA rs1459675 0.98 0.98 0.974 0.976038 1 1 0.9957 0.9115 1 1 1 1 0.91 0.9938 1 0.51 T 0.0 B 0.0 B 0.122 N 1.000 P 0 N 2.8 T -0.949 T 0.003 T 0.024 -1.464 0.019 -4.41 -1.266 -0.303 1.864 -1.464056 NA 0.45 0.999651 0.935769 NA 0.964 NA 6.3398824 1026 3 137843476 137843476 G T exonic A4GNT NA nonsynonymous SNV A4GNT:NM_016161:exon3:c.C653A:p.A218D exonic ENSG00000118017 NA nonsynonymous SNV ENSG00000118017:ENST00000236709:exon3:c.C653A:p.A218D NA NA 3q22.3 NA NA NA NA rs2246945 0.67 0.67 0.652 0.653754 0.672 0.6389 0.7233 0.6384 0.6217 0.67 0.65 0.69 0.68 0.6523 0.69 0.82 T 0.0 B 0.002 B 0.898 N 1.000 P 0.58 N -1.2 T -0.956 T 0.000 T 0.025 -0.761 0.784 -1.83 -1.055 -0.385 10.381 -0.761128 NA 0.96 0.669302 0.643441 NA 0.659 NA 6.3397314 1026 4 159894305 159894305 T C exonic C4orf45 NA nonsynonymous SNV C4orf45:NM_152543:exon2:c.A223G:p.S75G exonic ENSG00000164123 NA nonsynonymous SNV ENSG00000164123:ENST00000434826:exon2:c.A223G:p.S75G Score=304;Name=lod=23 NA 4q32.1 NA NA NA NA rs662473 0.99 0.99 0.983 0.98103 1 1 0.9914 0.9327 1 1 1 0.99 0.95 0.9946 1 . . 0.0 B 0.0 B 0.001 N 1.000 P -2.36 N 2.84 T -0.976 T 0.000 T 0.074 -1.798 0.01 4.84 0.753 0.485 7.756 -1.797549 NA 1 0.999266 0.946487 NA 0.993 NA 6.3394674 1026 19 3119239 3119239 C T exonic GNA11 NA synonymous SNV GNA11:NM_002067:exon6:c.C771T:p.T257T exonic ENSG00000088256 NA synonymous SNV ENSG00000088256:ENST00000078429:exon6:c.C771T:p.T257T Score=665;Name=lod=673 NA 19p13.3 Score=870;Name=V$COMP1_01 NA NA NA rs4900 0.39 0.39 0.38 0.348842 0.4324 0.4058 0.4006 0.1657 0.4151 0.45 0.44 0.41 0.22 0.4263 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.018105 NA NA 0.468721 0.213345 NA 0.37 NA 6.3392456 1026 5 137476416 137476416 T C exonic BRD8 NA nonsynonymous SNV BRD8:NM_139199:exon26:c.A3593G:p.Q1198R exonic ENSG00000112983 NA nonsynonymous SNV ENSG00000112983:ENST00000427976:exon6:c.A911G:p.Q304R,ENSG00000112983:ENST00000254900:exon26:c.A3593G:p.Q1198R Score=582;Name=lod=310 NA 5q31.2 NA NA NA NA rs412051 0.99 0.99 0.982 0.977236 1 1 0.9928 0.9175 1 1 1 1 0.94 0.9944 1 1 T 0.0 B 0.0 B 0.748 N 0.000 P -0.55 N 2.22 T -0.965 T 0.000 T 0.113 0.179 4.965 1.75 0.156 1.779 11.401 0.179286 NA 1 0.999767 0.94167 NA 0.986 NA 6.3391664 1026 14 64935720 64935720 C T exonic AKAP5 NA nonsynonymous SNV AKAP5:NM_004857:exon2:c.C608T:p.T203I exonic ENSG00000179841 NA nonsynonymous SNV ENSG00000179841:ENST00000320636:exon1:c.C608T:p.T203I,ENSG00000179841:ENST00000394718:exon2:c.C608T:p.T203I NA NA 14q23.3 NA NA NA NA rs1256149 0.98 0.98 0.982 0.983826 1 0.9365 1 1 0.9826 1 0.93 1 1 0.9942 1 0.43 T 0.0 B 0.0 B 0.185 N 1.000 P -0.805 N 1.99 T -0.992 T 0.000 T 0.024 -0.089 3.564 -7.35 -1.436 -0.285 10.623 -0.089134 NA 1 1 0.999773 NA 0.978 NA 6.3391334 1026 1 154600372 154600372 A G UTR5 ADAR NM_001025107:c.-26140T>C NA NA exonic ENSG00000160710 NA nonsynonymous SNV ENSG00000160710:ENST00000292205:exon1:c.T103C:p.S35P NA NA 1q21.3 NA Name=E2F6,POU2F2,USF2,Pol2,USF1_(SC-8983),ELF1_(SC-631),HEY1,ATF3,TAF1,Pol2-4H8,Sin3Ak-20,STAT3,Mxi1_(bHLH),Max,YY1_(C-20),Oct-2,c-Myc,SRF,JunD,Egr-1,AP-2gamma,TBP,AP-2alpha,YY1,BRCA1_(C-1863) Name=148 NA rs6426859 0.98 0.98 0.975 0.981629 0.999 1 1 0.9312 1 1 1 1 0.93 0.9954 1 0 D . . . . 0.000 N 1.000 P . . 2.62 T -0.979 T 0.013 T 0.037 -1.173 0.087 1.04 -0.152 -0.009 3.662 -1.173119 NA NA 1 0.945205 NA 0.942 NA 6.3389334 1026 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 1026 2 209036778 209036778 A G exonic C2orf80 NA nonsynonymous SNV C2orf80:NM_001099334:exon7:c.T388C:p.C130R exonic ENSG00000188674 NA nonsynonymous SNV ENSG00000188674:ENST00000451342:exon3:c.T163C:p.C55R,ENSG00000188674:ENST00000423952:exon5:c.T127C:p.C43R,ENSG00000188674:ENST00000451346:exon5:c.T331C:p.C111R,ENSG00000188674:ENST00000341287:exon7:c.T388C:p.C130R NA NA 2q34 NA NA NA NA rs6435421 0.98 0.98 0.98 0.983427 0.999 1 0.9971 0.9395 1 1 1 1 0.93 0.9955 1 1 T 0.0 B 0.0 B 0.743 N 1.000 P -0.805 N 2.18 T -0.984 T 0.000 T 0.629 -2.507 0.003 4.24 0.873 1.486 5.061 -2.506678 NA 1 1 0.948409 NA 0.993 NA 6.3388334 1026 18 72228124 72228124 A G exonic CNDP1 NA nonsynonymous SNV CNDP1:NM_032649:exon4:c.A337G:p.I113V exonic ENSG00000150656 NA nonsynonymous SNV ENSG00000150656:ENST00000582365:exon3:c.A208G:p.I70V,ENSG00000150656:ENST00000358821:exon4:c.A337G:p.I113V Score=352;Name=lod=36 NA 18q22.3 NA NA NA NA rs4263028 0.99 0.99 0.985 0.981629 1 1 0.9971 0.9319 1 1 1 1 0.94 0.9949 1 1 T 0.0 B 0.0 B 0.049 N 0.992 P 0.11 N 3.21 T -0.898 T 0.000 T 0.277 -1.616 0.013 -2.4 -0.375 0.015 12.954 -1.615852 NA 1 0.999884 0.948706 NA 0.964 NA 6.3385494 1026 15 66257408 66257408 T C exonic MEGF11 NA nonsynonymous SNV MEGF11:NM_032445:exon9:c.A950G:p.H317R exonic ENSG00000157890 NA nonsynonymous SNV ENSG00000157890:ENST00000490495:exon2:c.A62G:p.H21R,ENSG00000157890:ENST00000455812:exon3:c.A62G:p.H21R,ENSG00000157890:ENST00000288745:exon7:c.A725G:p.H242R,ENSG00000157890:ENST00000395625:exon8:c.A725G:p.H242R,ENSG00000157890:ENST00000360698:exon9:c.A950G:p.H317R,ENSG00000157890:ENST00000409699:exon9:c.A950G:p.H317R,ENSG00000157890:ENST00000422354:exon9:c.A950G:p.H317R Score=469;Name=lod=107 NA 15q22.31 NA Name=ZNF263 NA NA rs333550 0.91 0.91 0.996 0.989217 0.999 1 0.9986 0.9614 0.999 0.9 0.94 0.96 0.87 0.9962 1 0.81 T 0.0 B 0.001 B 0.002 N 0.000 P -0.785 N 1.1 T -0.996 T 0.000 T 0.293 0.251 5.359 0.559 -0.442 -0.399 2.067 0.251469 NA 0.58 0.99965 0.965682 NA 1 NA 6.3384834 1026 1 95709821 95709821 T C exonic RWDD3 NA nonsynonymous SNV RWDD3:NM_001128142:exon2:c.T140C:p.V47A,RWDD3:NM_001199682:exon2:c.T140C:p.V47A,RWDD3:NM_015485:exon2:c.T140C:p.V47A exonic ENSG00000122481 NA nonsynonymous SNV ENSG00000122481:ENST00000263893:exon2:c.T140C:p.V47A,ENSG00000122481:ENST00000370202:exon2:c.T140C:p.V47A,ENSG00000122481:ENST00000429514:exon3:c.T95C:p.V32A NA NA 1p21.3 NA NA NA NA rs259358 0.98 0.98 0.977 0.984625 1 1 0.9957 0.944 1 1 1 0.99 0.93 0.9955 1 0.79 T 0.001 B 0.002 B 0.507 N 1.000 P -1.06 N 2.03 T -0.978 T 0.004 T 0.075 -1.123 0.123 -9.18 -1.758 -0.506 7.487 -1.122915 NA 0.63 0.999514 0.956406 NA 0.964 NA 6.3383194 1026 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 1026 1 248004296 248004296 A G exonic OR11L1 NA synonymous SNV OR11L1:NM_001001959:exon1:c.T903C:p.V301V exonic ENSG00000197591 NA synonymous SNV ENSG00000197591:ENST00000355784:exon1:c.T903C:p.V301V NA NA 1q44 NA NA Name=3 NA rs6681483 0.13 0.13 0.128 0.148962 0.1014 0.004 0.1282 0.3616 0.0746 0.09 0.0035 0.11 0.35 0.1083 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181165 NA NA 0.118953 0.336586 NA 0.181 NA 6.3380136 1026 15 100942962 100942962 T C exonic CERS3 NA nonsynonymous SNV CERS3:NM_178842:exon13:c.A1108G:p.R370G exonic ENSG00000154227 NA nonsynonymous SNV ENSG00000154227:ENST00000284382:exon13:c.A1108G:p.R370G,ENSG00000154227:ENST00000538112:exon13:c.A1108G:p.R370G,ENSG00000154227:ENST00000394113:exon14:c.A1108G:p.R370G NA NA 15q26.3 NA NA NA NA rs2439928 0.99 0.99 0.989 0.986022 1 0.999 0.9986 0.9486 1 1 1 1 0.95 0.9956 1 0.59 T 0.0 B 0.0 B 0.236 N 1.000 P 0 N 3.29 T -0.987 T 0.000 T 0.044 -1.136 0.112 3.36 0.626 1.473 7.933 -1.136438 NA 0.77 0.999884 0.952111 NA 0.993 NA 6.3378494 1026 4 57181632 57181632 G C exonic KIAA1211 NA nonsynonymous SNV KIAA1211:NM_020722:exon8:c.G1964C:p.R655P exonic ENSG00000109265 NA nonsynonymous SNV ENSG00000109265:ENST00000504228:exon6:c.G1964C:p.R655P,ENSG00000109265:ENST00000541073:exon7:c.G1943C:p.R648P,ENSG00000109265:ENST00000264229:exon8:c.G1964C:p.R655P NA NA 4q12 NA NA NA NA rs7672073 0.99 0.99 0.99 0.987021 1 1 0.9957 0.9531 1 1 1 0.99 0.95 0.9957 1 0.74 T 0.001 B 0.0 B . . 1.000 P -1.59 N 4.49 T -1.018 T 0.000 T 0.103 0.062 4.338 3.64 0.526 3.460 9.632 0.062083 NA 0.34 0.999878 0.949328 NA 0.978 NA 6.3377554 1026 10 7763661 7763661 A G exonic ITIH2 NA nonsynonymous SNV ITIH2:NM_002216:exon8:c.A788G:p.N263S exonic ENSG00000151655 NA nonsynonymous SNV ENSG00000151655:ENST00000379587:exon7:c.A755G:p.N252S,ENSG00000151655:ENST00000358415:exon8:c.A788G:p.N263S NA NA 10p14 Score=850;Name=V$OCT1_02 NA NA NA rs7075296 0.99 0.99 0.99 0.991214 0.999 1 0.9971 0.969 1 1 1 1 0.97 0.9973 1 0.27 T 0.043 B 0.014 B 0.001 N 0.999 P 0.695 N -1.13 T -1.006 T 0.000 T 0.02 0.454 6.468 -3.6 -0.527 -0.268 8.705 0.454493 NA 0.16 0.999535 0.968225 NA 0.978 NA 6.3374984 1026 11 60620585 60620585 A G exonic PTGDR2 NA nonsynonymous SNV PTGDR2:NM_004778:exon2:c.T611C:p.V204A exonic ENSG00000183134 NA nonsynonymous SNV ENSG00000183134:ENST00000332539:exon2:c.T611C:p.V204A NA NA 11q12.2 NA NA NA NA rs2467642 0.99 0.99 0.989 0.984625 1 1 0.9942 0.9448 1 1 1 0.99 0.95 0.996 1 0.79 T 0.0 B 0.0 B 0.371 N 1.000 P -0.365 N 1.22 T -1.020 T 0.000 T 0.009 -0.837 0.581 -5.5 -1.018 . 3.713 -0.837181 NA 0.88 0.999884 0.957292 NA 0.377 NA 6.3374494 1026 12 64609562 64609562 C T exonic C12orf66 NA nonsynonymous SNV C12orf66:NM_152440:exon2:c.G417A:p.M139I exonic ENSG00000174206 NA nonsynonymous SNV ENSG00000174206:ENST00000311915:exon2:c.G417A:p.M139I,ENSG00000174206:ENST00000398055:exon2:c.G417A:p.M139I,ENSG00000174206:ENST00000544871:exon2:c.G258A:p.M86I NA NA 12q14.2 NA NA NA NA rs2335390 0.99 0.99 0.985 0.986022 1 1 0.9971 0.9486 1 1 1 1 0.95 0.996 1 . . 0.0 B 0.001 B 0.000 N 1.000 P -0.69 N 1.82 T -0.977 T 0.000 T 0.082 -0.824 0.615 -9.44 -2.641 -0.095 9.319 -0.823629 NA 1 1 0.955589 NA 0.978 NA 6.3373334 1026 10 123845322 123845322 T C exonic TACC2 NA nonsynonymous SNV TACC2:NM_206862:exon4:c.T3307C:p.W1103R exonic ENSG00000138162 NA nonsynonymous SNV ENSG00000138162:ENST00000334433:exon3:c.T3307C:p.W1103R,ENSG00000138162:ENST00000453444:exon3:c.T3307C:p.W1103R,ENSG00000138162:ENST00000369005:exon4:c.T3307C:p.W1103R,ENSG00000138162:ENST00000515273:exon4:c.T3307C:p.W1103R,ENSG00000138162:ENST00000515603:exon4:c.T3307C:p.W1103R NA NA 10q26.13 NA NA NA NA rs7073433 0.99 0.99 0.986 0.988219 1 1 0.9957 0.9576 1 1 1 1 0.94 0.9965 1 0.16 T 0.0 B 0.0 B 0.577 N 1.000 P -0.345 N 4.25 T -0.924 T 0.000 T 0.064 0.964 8.933 4.51 1.306 0.433 7.604 0.964034 NA 0.9 0.999535 0.966409 NA 0.978 NA 6.3372984 1026 X 43603391 43603391 T C exonic MAOA NA synonymous SNV MAOA:NM_000240:exon14:c.T1410C:p.D470D,MAOA:NM_001270458:exon15:c.T1011C:p.D337D exonic ENSG00000189221 NA synonymous SNV ENSG00000189221:ENST00000338702:exon14:c.T1410C:p.D470D,ENSG00000189221:ENST00000542639:exon15:c.T1011C:p.D337D NA NA Xp11.3 Score=721;Name=V$SEF1_C NA NA NA rs1137070 0.6 0.6 0.60095 NA NA NA NA NA NA 0.7 0.41 0.63 0.64 0.626 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 -0.659815 NA NA 0.703478 0.620078 NA 0.507 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078414.3;CLNDSDB=.;CLNDSDBID=. 6.3371886 1026 12 10151642 10151642 T C exonic CLEC1B NA nonsynonymous SNV CLEC1B:NM_001099431:exon1:c.A58G:p.I20V,CLEC1B:NM_016509:exon1:c.A58G:p.I20V exonic ENSG00000165682 NA nonsynonymous SNV ENSG00000165682:ENST00000298527:exon1:c.A58G:p.I20V,ENSG00000165682:ENST00000348658:exon1:c.A58G:p.I20V,ENSG00000165682:ENST00000428126:exon3:c.A58G:p.I20V NA NA 12p13.2 NA NA NA NA rs612593 0.99 0.99 0.984 0.98742 1 1 0.9986 0.9531 1 1 1 1 0.95 0.9964 1 0.41 T 0.0 B 0.002 B 0.685 N 1.000 P 0.805 L 5.05 T -1.038 T 0.000 T 0.008 -0.657 1.114 -5.22 -1.318 -0.354 0.455 -0.657421 NA 0.79 0.999755 0.959217 NA 0.957 NA 6.3371784 1026 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 1026 12 994487 994487 G C exonic WNK1 NA nonsynonymous SNV WNK1:NM_014823:exon17:c.G3776C:p.C1259S,WNK1:NM_001184985:exon19:c.G5297C:p.C1766S,WNK1:NM_018979:exon19:c.G4517C:p.C1506S,WNK1:NM_213655:exon19:c.G5273C:p.C1758S exonic ENSG00000060237 NA nonsynonymous SNV ENSG00000060237:ENST00000340908:exon16:c.G3296C:p.C1099S,ENSG00000060237:ENST00000535572:exon17:c.G3776C:p.C1259S,ENSG00000060237:ENST00000315939:exon19:c.G4517C:p.C1506S,ENSG00000060237:ENST00000537687:exon19:c.G5297C:p.C1766S,ENSG00000060237:ENST00000530271:exon21:c.G6011C:p.C2004S NA NA 12p13.33 NA NA NA NA rs7955371 0.99 0.99 0.987 0.986821 1 1 0.9971 0.9516 1 1 1 1 0.96 0.9963 1 0.89 T 0.0 B 0.0 B 0.008 N 1.000 P -1.39 N 0.99 T -0.954 T 0.000 T 0.042 -1.946 0.007 5.3 1.377 0.153 9.383 -1.946072 NA 1 1 0.95892 NA 0.993 NA 6.3370334 1026 X 49021256 49021256 A G exonic MAGIX NA nonsynonymous SNV MAGIX:NM_001099680:exon2:c.A134G:p.H45R,MAGIX:NM_024859:exon4:c.A335G:p.H112R exonic ENSG00000017621 NA nonsynonymous SNV ENSG00000017621:ENST00000376338:exon2:c.A158G:p.H53R,ENSG00000017621:ENST00000376339:exon2:c.A158G:p.H53R,ENSG00000017621:ENST00000425285:exon3:c.A173G:p.H58R,ENSG00000017621:ENST00000412696:exon4:c.A335G:p.H112R NA NA Xp11.23 NA Name=BAF155 NA NA rs5906744 1 1 1 NA NA NA NA NA NA 1 1 1 1 0.9982 1 0.61 T 0.0 B 0.0 B 0.672 N 1.000 P -0.205 N 2.08 T -1.028 T 0.000 T 0.092 -1.23 0.059 -1.36 -0.646 -0.113 6.182 -1.229632 NA 0.9 0.998158 1 NA 0.746 NA 6.3369754 1026 17 11523082 11523082 A G exonic DNAH9 NA nonsynonymous SNV DNAH9:NM_001372:exon6:c.A1334G:p.Q445R exonic ENSG00000007174 NA nonsynonymous SNV ENSG00000007174:ENST00000262442:exon6:c.A1334G:p.Q445R,ENSG00000007174:ENST00000454412:exon6:c.A1334G:p.Q445R NA NA 17p12 NA NA NA NA rs9892256 0.99 0.99 0.993 0.990216 0.999 1 0.9971 0.9652 1 1 1 1 0.97 0.9975 1 1 T 0.0 B 0.0 B 0.002 N 0.966 P -2.61 N 1.22 T -0.966 T 0.000 T 0.031 -1.799 0.009 4.0 0.446 3.773 9.689 -1.798617 NA 1 0.999884 0.975942 NA 0.978 NA 6.3369494 1026 15 65490901 65490901 T C exonic CILP NA nonsynonymous SNV CILP:NM_003613:exon9:c.A1723G:p.K575E exonic ENSG00000138615 NA nonsynonymous SNV ENSG00000138615:ENST00000261883:exon9:c.A1723G:p.K575E Score=501;Name=lod=145 NA 15q22.31 NA NA NA NA rs2679118 0.99 0.99 0.99 0.991014 1 1 1 0.966 1 1 1 1 0.95 0.9967 1 1 T 0.0 B 0.0 B 0.232 N 1.000 P -1.15 N 1.01 T -0.962 T 0.000 T 0.056 -2.577 0.003 3.6 0.723 0.310 10.013 -2.576792 NA 1 0.999884 0.959582 NA 0.993 NA 6.3367494 1026 2 219319657 219319657 A G exonic USP37 NA nonsynonymous SNV USP37:NM_020935:exon26:c.T2936C:p.L979S exonic ENSG00000135913 NA nonsynonymous SNV ENSG00000135913:ENST00000415516:exon24:c.T2654C:p.L885S,ENSG00000135913:ENST00000258399:exon26:c.T2936C:p.L979S,ENSG00000135913:ENST00000418019:exon26:c.T2936C:p.L979S,ENSG00000135913:ENST00000454775:exon26:c.T2936C:p.L979S NA NA 2q35 Score=832;Name=V$PAX3_01 NA NA NA rs6436058 0.98 0.98 0.976 0.983826 1 1 0.9971 0.9402 1 1 1 1 0.92 0.9967 1 0 D 0.0 B 0.001 B 0.069 N 1.000 P 0 N 0.68 T -0.982 T 0.000 T 0.139 1.731 11.75 -0.795 -0.242 0.502 11.719 1.731429 1.731429 0 1 0.968906 NA 0.978 NA 6.3366334 1026 19 51507020 51507020 T G exonic KLK9 NA synonymous SNV KLK9:NM_012315:exon4:c.A543C:p.G181G exonic ENSG00000213022,ENSG00000269741 NA synonymous SNV ENSG00000269741:ENST00000599166:exon1:c.A66C:p.G22G,ENSG00000269741:ENST00000250366:exon4:c.A543C:p.G181G,ENSG00000213022:ENST00000376832:exon4:c.A543C:p.G181G,ENSG00000213022:ENST00000594211:exon4:c.A543C:p.G181G Score=340;Name=lod=32 NA 19q13.41 Score=878;Name=V$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 1026 11 48285842 48285842 A G exonic OR4X1 NA nonsynonymous SNV OR4X1:NM_001004726:exon1:c.A430G:p.R144G exonic ENSG00000176567 NA nonsynonymous SNV ENSG00000176567:ENST00000320048:exon1:c.A430G:p.R144G NA NA 11p11.2 NA NA NA NA rs1503193 0.99 0.99 0.987 0.988618 1 1 0.9971 0.9584 1 1 1 1 0.96 0.997 1 0.53 T 0.0 B 0.0 B . . 1.000 P -1.425 N 1.33 T -0.975 T 0.000 T 0.043 -2.348 0.004 4.28 1.188 0.786 5.788 -2.347803 NA 0.59 0.999767 0.967288 NA 0.971 NA 6.3365664 1026 8 27667969 27667969 C G exonic PBK NA synonymous SNV PBK:NM_018492:exon8:c.G822C:p.A274A exonic ENSG00000168078 NA synonymous SNV ENSG00000168078:ENST00000301905:exon8:c.G822C:p.A274A,ENSG00000168078:ENST00000522944:exon8:c.G855C:p.A285A Score=558;Name=lod=247 NA 8p21.1 Score=752;Name=V$PPARA_01 NA NA NA rs2294092 0.42 0.42 0.42 0.419329 0.4592 0.3829 0.4179 0.4289 0.4039 0.44 0.39 0.43 0.42 0.4288 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.024624 NA NA 0.442326 0.422833 NA 0.543 NA 6.3363406 1026 12 119866533 119866533 A G exonic CCDC60 NA nonsynonymous SNV CCDC60:NM_178499:exon2:c.A136G:p.I46V exonic ENSG00000183273 NA nonsynonymous SNV ENSG00000183273:ENST00000327554:exon2:c.A136G:p.I46V,ENSG00000183273:ENST00000536742:exon2:c.A136G:p.I46V,ENSG00000183273:ENST00000539847:exon2:c.A136G:p.I46V NA NA 12q24.23 NA NA NA NA rs1064319 0.27 0.27 0.253 0.253195 0.326 0.2788 0.245 0.2194 0.2035 0.32 0.26 0.27 0.21 0.3381 0.33 . . 0.006 B 0.011 B 0.139 N 1.000 P 1.39 L 1.85 T -1.001 T 0.000 T 0.088 1.717 11.7 0.905 0.151 0.868 6.524 1.717191 1.717191 0.08 0.332907 0.220381 ID=COSM1162341;OCCURENCE=1(pancreas) 0.246 NA 6.3363264 1026 8 17230644 17230644 G C exonic MTMR7 NA nonsynonymous SNV MTMR7:NM_004686:exon2:c.C130G:p.P44A exonic ENSG00000003987 NA nonsynonymous SNV ENSG00000003987:ENST00000180173:exon2:c.C130G:p.P44A,ENSG00000003987:ENST00000517317:exon2:c.C130G:p.P44A,ENSG00000003987:ENST00000521857:exon2:c.C130G:p.P44A NA NA 8p22 Score=799;Name=V$FREAC3_01 NA NA NA rs7388581 0.99 0.99 0.994 0.990016 1 1 0.9986 0.9629 1 1 1 1 0.97 0.9972 1 1 T 0.0 B 0.0 B 0.544 N 1.000 P -1.545 N -1.59 D -0.947 T 0.000 T 0.083 -4.632 0.001 -1.49 -0.755 0.255 0.566 -4.632106 NA 1 0.999884 0.96936 NA 0.986 NA 6.3362494 1026 12 132403161 132403161 A G exonic ULK1 NA nonsynonymous SNV ULK1:NM_003565:exon23:c.A2446G:p.T816A exonic ENSG00000177169 NA nonsynonymous SNV ENSG00000177169:ENST00000540647:exon1:c.A181G:p.T61A,ENSG00000177169:ENST00000541761:exon4:c.A490G:p.T164A,ENSG00000177169:ENST00000321867:exon23:c.A2446G:p.T816A NA NA 12q24.33 NA NA NA NA rs11609348 0.99 0.99 0.993 0.992212 1 1 1 0.9705 1 1 1 1 0.97 0.9975 1 1 T 0.0 B 0.001 B 0.002 N 0.037 P 0.42 N 0.89 T -0.944 T 0.000 T 0.115 -0.934 0.371 -5.91 -1.497 -0.278 7.950 -0.934107 NA 0.42 0.999649 0.97249 NA 0.761 NA 6.3361844 1026 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 1026 2 227896976 227896976 C T exonic COL4A4 NA synonymous SNV COL4A4:NM_000092:exon39:c.G3594A:p.G1198G exonic ENSG00000081052 NA synonymous SNV ENSG00000081052:ENST00000329662:exon39:c.G3594A:p.G1198G,ENSG00000081052:ENST00000396625:exon39:c.G3594A:p.G1198G Score=325;Name=lod=28 NA 2q36.3 Score=928;Name=V$LMO2COM_01 NA NA NA rs10203363 0.45 0.45 0.424 0.495008 0.4364 0.4028 0.4769 0.5613 0.5736 0.44 0.4 0.47 0.52 0.4746 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287512 NA NA 0.419673 0.52107 NA 0.471 NA 6.3359936 1026 8 25182969 25182969 C T exonic DOCK5 NA synonymous SNV DOCK5:NM_024940:exon18:c.C1809T:p.S603S exonic ENSG00000147459 NA synonymous SNV ENSG00000147459:ENST00000276440:exon18:c.C1809T:p.S603S Score=317;Name=lod=26 NA 8p21.2 NA NA NA NA rs2666172 0.72 0.72 0.694 0.66893 0.827 0.7688 0.6614 0.497 0.6411 0.8 0.77 0.7 0.55 0.7151 0.8 . . . . . . . . 0.000 P . . . . . . . . . 0.103 4.555 2.78 0.701 0.582 2.400 0.103003 NA NA 0.788605 0.542669 NA 0.601 NA 6.3359616 1026 20 25264814 25264814 T C exonic PYGB NA synonymous SNV PYGB:NM_002862:exon14:c.T1695C:p.D565D exonic ENSG00000100994 NA synonymous SNV ENSG00000100994:ENST00000216962:exon14:c.T1695C:p.D565D Score=456;Name=lod=95 NA 20p11.21 Score=865;Name=V$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 1026 10 98078239 98078239 A G exonic DNTT NA nonsynonymous SNV DNTT:NM_001017520:exon2:c.A334G:p.R112G,DNTT:NM_004088:exon2:c.A334G:p.R112G exonic ENSG00000107447 NA nonsynonymous SNV ENSG00000107447:ENST00000371174:exon2:c.A334G:p.R112G,ENSG00000107447:ENST00000419175:exon2:c.A334G:p.R112G Score=470;Name=lod=108 NA 10q24.1 NA NA NA NA rs6584066 0.99 0.99 0.994 0.992812 1 1 0.9986 0.9735 1 1 1 1 0.97 0.9976 1 0.74 T 0.0 B 0.001 B 0.416 N 1.000 P -0.075 N 0.88 T -0.966 T 0.000 T 0.052 -1.325 0.032 -3.49 -0.849 -0.023 13.862 -1.325284 NA 0.68 0.999884 0.972764 NA 1 NA 6.3358494 1026 17 71390366 71390366 C A exonic SDK2 NA synonymous SNV SDK2:NM_001144952:exon26:c.G3690T:p.G1230G exonic ENSG00000069188 NA synonymous SNV ENSG00000069188:ENST00000424778:exon9:c.G1218T:p.G406G,ENSG00000069188:ENST00000388726:exon26:c.G3690T:p.G1230G,ENSG00000069188:ENST00000392650:exon26:c.G3690T:p.G1230G Score=355;Name=lod=37 NA 17q25.1 Score=803;Name=V$MYCMAX_01 NA NA NA rs904381 0.25 0.25 0.211 0.207268 0.4354 0.0456 0.4611 0.0552 0.1646 0.44 0.04 0.48 0.04 0.4285 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.993675 NA NA 0.466977 0.133908 NA 0.188 NA 6.3357896 1026 18 33779896 33779896 A G exonic MOCOS NA nonsynonymous SNV MOCOS:NM_017947:exon4:c.A550G:p.S184G exonic ENSG00000075643 NA nonsynonymous SNV ENSG00000075643:ENST00000261326:exon4:c.A550G:p.S184G NA NA 18q12.2 NA NA Name=4 NA rs540967 0.99 0.99 0.993 0.993411 1 1 0.9986 0.9758 1 1 1 1 0.98 0.9977 1 0.4 T 0.0 B 0.0 B 0.252 N 1.000 P 0.895 L -2.19 D -0.938 T 0.000 T 0.025 -1.194 0.075 -0.549 -0.166 -0.012 2.071 -1.194116 NA 0.48 1 0.974126 NA 0.986 NA 6.3356334 1026 4 72618296 72618296 T C exonic GC NA nonsynonymous SNV GC:NM_000583:exon11:c.A1334G:p.H445R,GC:NM_001204306:exon12:c.A1334G:p.H445R,GC:NM_001204307:exon12:c.A1391G:p.H464R exonic ENSG00000145321 NA nonsynonymous SNV ENSG00000145321:ENST00000273951:exon11:c.A1334G:p.H445R,ENSG00000145321:ENST00000513476:exon11:c.A1334G:p.H445R,ENSG00000145321:ENST00000504199:exon12:c.A1391G:p.H464R NA NA 4q13.3 NA NA Name=4 NA rs9016 0.99 0.99 0.989 0.992812 1 1 1 0.9758 0.9959 1 1 1 0.98 0.998 1 1 T 0.0 B 0.0 B 0.002 N 1.000 P . . 2.66 T -0.965 T 0.000 T 0.021 -1.294 0.039 0.982 -0.340 -1.659 2.852 -1.294432 NA 1 0.999884 0.979573 NA 0.877 NA 6.3354494 1026 19 1979386 1979386 C T exonic CSNK1G2 NA synonymous SNV CSNK1G2:NM_001319:exon8:c.C837T:p.L279L exonic ENSG00000133275 NA synonymous SNV ENSG00000133275:ENST00000255641:exon8:c.C837T:p.L279L Score=550;Name=lod=229 NA 19p13.3 NA NA NA NA rs11550450 0.17 0.17 0.165 0.180511 0.0875 0.0843 0.0605 0.4221 0.1339 0.1 0.09 0.07 0.44 0.1609 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.120069 NA NA 0.083217 0.361149 NA 0.101 NA 6.3350496 1027 4 8616179 8616179 T C exonic CPZ NA nonsynonymous SNV CPZ:NM_003652:exon8:c.T1424C:p.I475T,CPZ:NM_001014447:exon9:c.T1457C:p.I486T,CPZ:NM_001014448:exon9:c.T1046C:p.I349T exonic ENSG00000109625 NA nonsynonymous SNV ENSG00000109625:ENST00000429646:exon7:c.T281C:p.I94T,ENSG00000109625:ENST00000315782:exon8:c.T1424C:p.I475T,ENSG00000109625:ENST00000360986:exon9:c.T1457C:p.I486T,ENSG00000109625:ENST00000382480:exon9:c.T1046C:p.I349T NA NA 4p16.1 NA NA NA NA rs7378066 1 1 1 0.995407 1 1 1 0.9826 1 1 1 1 0.99 0.9984 1 0.61 T 0.0 B 0.0 B 0.535 N 1.000 P -1.385 N 2.92 T -1.012 T 0.000 T 0.294 -0.81 0.649 3.91 0.435 1.021 7.092 -0.810434 NA 0.6 1 0.982978 NA 0.993 NA 6.3349334 1027 17 59955426 59955426 T G exonic INTS2 NA nonsynonymous SNV INTS2:NM_020748:exon18:c.A2302C:p.N768H exonic ENSG00000108506 NA nonsynonymous SNV ENSG00000108506:ENST00000251334:exon18:c.A2278C:p.N760H,ENSG00000108506:ENST00000444766:exon18:c.A2302C:p.N768H Score=634;Name=lod=503 NA 17q23.2 NA NA NA NA rs606072 1 1 0.997 0.997005 1 1 0.9986 0.9894 1 1 1 1 0.98 0.9984 1 . . 0.0 B 0.0 B 0.001 N 1.000 P -0.69 N 1.0 T -1.011 T 0.000 T 0.088 0.295 5.599 1.33 -0.162 1.138 6.213 0.295327 NA 0.34 1 0.977358 NA 0.978 NA 6.3349334 1027 6 43251118 43251118 C T exonic TTBK1 NA synonymous SNV TTBK1:NM_032538:exon14:c.C2640T:p.D880D exonic ENSG00000146216 NA synonymous SNV ENSG00000146216:ENST00000259750:exon14:c.C2640T:p.D880D Score=431;Name=lod=75 NA 6p21.1 NA NA NA NA rs45515398 0.14 0.14 0.153 0.155751 0.0885 0.1121 0.1009 0.2632 0.1636 0.09 0.12 0.11 0.26 0.1601 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170848 NA NA 0.083158 0.22476 ID=COSM451520;OCCURENCE=1(breast) 0.239 NA 6.3349086 1027 2 179444768 179444768 C G exonic TTN NA nonsynonymous SNV TTN:NM_003319:exon146:c.G40051C:p.A13351P,TTN:NM_133432:exon147:c.G40426C:p.A13476P,TTN:NM_133437:exon147:c.G40627C:p.A13543P,TTN:NM_133378:exon267:c.G59542C:p.A19848P,TTN:NM_001256850:exon268:c.G62323C:p.A20775P,TTN:NM_001267550:exon318:c.G67246C:p.A22416P exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000460472:exon146:c.G40051C:p.A13351P,ENSG00000155657:ENST00000342175:exon147:c.G40627C:p.A13543P,ENSG00000155657:ENST00000359218:exon147:c.G40426C:p.A13476P,ENSG00000155657:ENST00000342992:exon267:c.G59542C:p.A19848P,ENSG00000155657:ENST00000591111:exon268:c.G62323C:p.A20775P,ENSG00000155657:ENST00000589042:exon318:c.G67246C:p.A22416P NA NA 2q31.2 NA NA NA NA rs4145333 0.99 0.99 0.995 0.994609 1 1 0.9971 0.9811 1 1 1 1 0.98 0.9986 1 0 D 0.0 B 0.0 B . . 0.915 P -0.71 N 0.46 T -1.003 T 0.000 T 0.076 0.002 4.022 1.82 0.059 0.656 0.542 0.001563 NA NA 0.999879 0.986423 NA 1 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040520.2|RCV000125863.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.3348544 1027 2 189875421 189875421 T G exonic COL3A1 NA nonsynonymous SNV COL3A1:NM_000090:exon50:c.T4059G:p.H1353Q exonic ENSG00000168542 NA nonsynonymous SNV ENSG00000168542:ENST00000317840:exon41:c.T3150G:p.H1050Q,ENSG00000168542:ENST00000304636:exon50:c.T4059G:p.H1353Q Score=393;Name=lod=53 NA 2q32.2 NA NA NA NA rs1516446 1 1 0.996 0.996605 1 1 0.9986 0.9879 1 1 1 1 0.99 0.9985 1 1 T 0.0 B 0.0 B 0.000 N 0.982 P -3.87 N 0.36 T -0.950 T 0.000 T 0.412 -0.695 0.987 1.42 0.003 1.661 6.129 -0.695287 NA 1 1 0.98502 NA 1 NA 6.3348334 1027 7 149528262 149528262 C T exonic SSPO NA stopgain SSPO:NM_198455:exon108:c.C15178T:p.R5060X ncRNA_exonic ENSG00000197558 NA NA NA Score=479;Name=lod=118 NA 7q36.1 NA NA NA NA rs10261977 0.18 0.18 0.165 0.186502 0.1511 0.1736 0.1945 0.1936 0.2209 0.15 0.19 0.21 0.19 0.1828 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.028996 NA 1 0.164683 0.196109 NA 0.138 NA 6.3347503 1027 3 121350966 121350966 C G exonic HCLS1 NA nonsynonymous SNV HCLS1:NM_005335:exon13:c.G1306C:p.V436L exonic ENSG00000180353 NA nonsynonymous SNV ENSG00000180353:ENST00000428394:exon12:c.G1195C:p.V399L,ENSG00000180353:ENST00000314583:exon13:c.G1306C:p.V436L Score=486;Name=lod=126 NA 3q13.33 NA NA NA NA rs9869984 1 1 1 0.995407 1 1 0.9914 0.9871 1 1 1 0.99 1 0.9987 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.35 N 1.57 T -0.987 T 0.000 T 0.118 -1.519 0.016 3.01 0.679 0.180 5.478 -1.518972 NA 1 0.999884 0.988425 NA 0.986 NA 6.3347494 1027 1 41978825 41978825 C G exonic HIVEP3 NA nonsynonymous SNV HIVEP3:NM_001127714:exon7:c.G6067C:p.A2023P,HIVEP3:NM_024503:exon8:c.G6067C:p.A2023P exonic ENSG00000127124 NA nonsynonymous SNV ENSG00000127124:ENST00000247584:exon7:c.G6067C:p.A2023P,ENSG00000127124:ENST00000372584:exon7:c.G6067C:p.A2023P,ENSG00000127124:ENST00000429157:exon7:c.G6067C:p.A2023P,ENSG00000127124:ENST00000372583:exon8:c.G6067C:p.A2023P NA NA 1p34.2 NA NA NA NA rs2483689 1 1 0.996 0.994209 1 1 1 0.9781 1 1 1 1 0.98 0.9986 1 1 T 0.0 B 0.0 B 0.037 N 1.000 P -0.46 N 3.66 T -0.947 T 0.000 T 0.053 -1.722 0.011 2.9 0.539 4.047 11.662 -1.722429 NA 1 1 0.984567 NA 0.993 NA 6.3347334 1027 5 74046464 74046464 C T exonic GFM2 NA synonymous SNV GFM2:NM_032380:exon7:c.G459A:p.E153E,GFM2:NM_170681:exon7:c.G459A:p.E153E,GFM2:NM_170691:exon7:c.G459A:p.E153E exonic ENSG00000164347 NA synonymous SNV ENSG00000164347:ENST00000509097:exon6:c.G333A:p.E111E,ENSG00000164347:ENST00000296805:exon7:c.G459A:p.E153E,ENSG00000164347:ENST00000345239:exon7:c.G459A:p.E153E,ENSG00000164347:ENST00000427854:exon7:c.G459A:p.E153E,ENSG00000164347:ENST00000509430:exon8:c.G459A:p.E153E Score=549;Name=lod=228 NA 5q13.3 NA NA NA NA rs17852781 0.16 0.16 0.157 0.18151 0.1024 0.1855 0.2003 0.2466 0.1575 0.1 0.16 0.22 0.21 0.132 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.013641 NA NA 0.097558 0.214253 NA 0.174 NA 6.3347086 1027 11 123754844 123754844 T C exonic TMEM225 NA nonsynonymous SNV TMEM225:NM_001013743:exon3:c.A401G:p.N134S exonic ENSG00000204300 NA nonsynonymous SNV ENSG00000204300:ENST00000375026:exon3:c.A401G:p.N134S,ENSG00000204300:ENST00000528595:exon3:c.A251G:p.N84S NA NA 11q24.1 NA NA NA NA rs10893099 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9996 1 1 T 0.0 B 0.0 B 0.320 N 1.000 P -0.46 N -0.31 T -0.977 T 0.000 T 0.146 -1.348 0.029 -2.09 -0.538 -1.107 6.356 -1.347596 NA 1 0.99907 1 NA 1 NA 6.3346634 1027 4 5838513 5838513 C G exonic CRMP1 NA synonymous SNV CRMP1:NM_001014809:exon10:c.G1431C:p.T477T,CRMP1:NM_001313:exon10:c.G1089C:p.T363T exonic ENSG00000072832 NA synonymous SNV ENSG00000072832:ENST00000324989:exon10:c.G1431C:p.T477T,ENSG00000072832:ENST00000397890:exon10:c.G1089C:p.T363T,ENSG00000072832:ENST00000512574:exon10:c.G1083C:p.T361T Score=524;Name=lod=179 NA 4p16.2 Score=846;Name=V$CMYB_01 NA NA NA rs12331 0.57 0.57 0.601 0.588658 0.4066 0.6002 0.4035 0.9198 0.4479 0.42 0.61 0.41 0.89 0.4794 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 1.063765 NA NA 0.446047 0.844757 ID=COSM447986;OCCURENCE=1(breast) 0.543 NA 6.3346196 1027 19 9087615 9087615 T A exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon1:c.A4200T:p.K1400N exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon1:c.A4200T:p.K1400N NA NA 19p13.2 NA NA NA NA rs1596798 1 1 0.996 0.996006 1 0.9802 1 1 1 1 0.99 1 1 0.9989 1 0 D 0.0 B 0.0 B . . . . 0 N 4.18 T -1.067 T 0.000 T 0.027 -0.262 2.744 0.010 -0.577 -1.435 2.122 -0.261513 NA 0.43 1 0.999051 NA 0.993 NA 6.3344334 1027 1 111862078 111862078 C T exonic CHIA NA synonymous SNV CHIA:NM_001258002:exon7:c.C682T:p.L228L,CHIA:NM_021797:exon8:c.C841T:p.L281L,CHIA:NM_001040623:exon9:c.C682T:p.L228L,CHIA:NM_001258003:exon9:c.C841T:p.L281L,CHIA:NM_001258001:exon10:c.C841T:p.L281L,CHIA:NM_001258005:exon10:c.C682T:p.L228L,CHIA:NM_001258004:exon11:c.C682T:p.L228L,CHIA:NM_201653:exon11:c.C1165T:p.L389L exonic ENSG00000134216 NA synonymous SNV ENSG00000134216:ENST00000483391:exon7:c.C682T:p.L228L,ENSG00000134216:ENST00000422815:exon8:c.C997T:p.L333L,ENSG00000134216:ENST00000489524:exon8:c.C682T:p.L228L,ENSG00000134216:ENST00000353665:exon9:c.C682T:p.L228L,ENSG00000134216:ENST00000430615:exon9:c.C841T:p.L281L,ENSG00000134216:ENST00000343320:exon10:c.C1165T:p.L389L,ENSG00000134216:ENST00000451398:exon10:c.C682T:p.L228L,ENSG00000134216:ENST00000369740:exon11:c.C1165T:p.L389L NA NA 1p13.2 NA Name=MEF2A,NFKB NA NA rs12094378 0.1 0.1 0.103 0.102037 0.1093 NA 0.0821 0.1884 0.0971 0.12 NA 0.1 0.19 0.1052 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 -0.17763 NA NA 0.117791 0.170903 NA 0.087 NA 6.3343756 1027 10 71647223 71647223 A C exonic COL13A1 NA synonymous SNV COL13A1:NM_080798:exon4:c.A384C:p.G128G,COL13A1:NM_080805:exon5:c.A411C:p.G137G,COL13A1:NM_001130103:exon7:c.A498C:p.G166G,COL13A1:NM_080800:exon7:c.A498C:p.G166G,COL13A1:NM_080801:exon7:c.A498C:p.G166G,COL13A1:NM_080802:exon7:c.A498C:p.G166G exonic ENSG00000197467 NA synonymous SNV ENSG00000197467:ENST00000398964:exon4:c.A411C:p.G137G,ENSG00000197467:ENST00000398969:exon4:c.A384C:p.G128G,ENSG00000197467:ENST00000520267:exon4:c.A384C:p.G128G,ENSG00000197467:ENST00000398974:exon5:c.A462C:p.G154G,ENSG00000197467:ENST00000520133:exon5:c.A411C:p.G137G,ENSG00000197467:ENST00000356340:exon6:c.A498C:p.G166G,ENSG00000197467:ENST00000398966:exon6:c.A498C:p.G166G,ENSG00000197467:ENST00000398968:exon6:c.A498C:p.G166G,ENSG00000197467:ENST00000398971:exon6:c.A498C:p.G166G,ENSG00000197467:ENST00000354547:exon7:c.A498C:p.G166G,ENSG00000197467:ENST00000357811:exon7:c.A498C:p.G166G,ENSG00000197467:ENST00000398972:exon7:c.A498C:p.G166G,ENSG00000197467:ENST00000398973:exon7:c.A498C:p.G166G,ENSG00000197467:ENST00000398978:exon7:c.A498C:p.G166G,ENSG00000197467:ENST00000517713:exon7:c.A498C:p.G166G,ENSG00000197467:ENST00000522165:exon7:c.A498C:p.G166G,ENSG00000197467:ENST00000479733:exon8:c.A525C:p.G175G Score=343;Name=lod=33 NA 10q22.1 NA NA NA NA rs11816811 0.09 0.09 0.1 0.0884585 0.1213 0.0784 0.0692 0.0953 0.0695 0.12 0.07 0.07 0.1 0.1018 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 0.785721 NA NA 0.109276 0.09596 NA 0.058 NA 6.3342906 1027 1 62579907 62579907 C T exonic INADL NA synonymous SNV INADL:NM_176877:exon35:c.C4644T:p.I1548I exonic ENSG00000132849 NA synonymous SNV ENSG00000132849:ENST00000545929:exon7:c.C579T:p.I193I,ENSG00000132849:ENST00000543708:exon10:c.C1086T:p.I362I,ENSG00000132849:ENST00000484937:exon23:c.C3021T:p.I1007I,ENSG00000132849:ENST00000371158:exon35:c.C4644T:p.I1548I,ENSG00000132849:ENST00000316485:exon36:c.C4734T:p.I1578I Score=516;Name=lod=167 NA 1p31.3 NA NA NA NA rs7418709 0.3 0.3 0.298 0.297524 0.0696 0.7113 0.2291 0.2791 0.1789 0.06 0.71 0.21 0.26 0.1742 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116235 NA NA 0.088605 0.258057 NA 0.254 NA 6.3342616 1027 14 101198417 101198417 A G exonic DLK1 NA nonsynonymous SNV DLK1:NM_003836:exon4:c.A301G:p.R101G exonic ENSG00000185559 NA nonsynonymous SNV ENSG00000185559:ENST00000331224:exon4:c.A301G:p.R101G,ENSG00000185559:ENST00000341267:exon4:c.A301G:p.R101G NA NA 14q32.2 Score=804;Name=V$FREAC4_01 NA NA NA rs6575799 1 1 0.998 0.996805 1 1 0.9986 0.9887 1 1 1 1 1 0.9991 1 1 T 0.0 B 0.0 B 0.039 N 1.000 P -3.455 N -1.59 D -0.936 T 0.000 T 0.133 -1.938 0.007 1.36 0.036 0.587 4.896 -1.938251 NA 1 1 0.990468 NA 1 NA 6.3342334 1027 11 67432804 67432804 T C exonic ALDH3B2 NA nonsynonymous SNV ALDH3B2:NM_000695:exon7:c.A658G:p.S220G,ALDH3B2:NM_001031615:exon7:c.A658G:p.S220G exonic ENSG00000132746 NA nonsynonymous SNV ENSG00000132746:ENST00000349015:exon7:c.A658G:p.S220G,ENSG00000132746:ENST00000530069:exon7:c.A658G:p.S220G Score=243;Name=lod=13 NA 11q13.2 NA NA NA NA rs2447571 1 1 0.998 0.999002 1 0.997 1 0.9985 1 1 1 1 1 0.9992 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.165 N -0.93 T -0.942 T 0.000 T 0.149 -1.016 0.238 3.21 0.469 0.940 9.130 -1.016043 NA 1 1 0.999318 NA 0.833 NA 6.3341334 1027 2 215876166 215876166 A T exonic ABCA12 NA nonsynonymous SNV ABCA12:NM_015657:exon9:c.T1375A:p.S459T,ABCA12:NM_173076:exon17:c.T2329A:p.S777T exonic ENSG00000144452 NA nonsynonymous SNV ENSG00000144452:ENST00000389661:exon9:c.T1375A:p.S459T,ENSG00000144452:ENST00000272895:exon17:c.T2329A:p.S777T NA NA 2q35 NA NA NA NA rs7560008 1 1 1 0.998403 1 1 0.9986 0.9947 1 1 1 1 0.99 0.9994 1 0.76 T 0.0 B 0.007 B 0.975 N 0.980 P 0.795 N 2.75 T -1.000 T 0.000 T 0.022 -1.923 0.008 -2.88 -0.586 -1.411 4.455 -1.923001 NA 0.44 1 0.993418 NA 1 NA 6.3339334 1027 11 55873368 55873368 G A exonic OR8H2 NA nonsynonymous SNV OR8H2:NM_001005200:exon1:c.G850A:p.V284M exonic ENSG00000181767 NA nonsynonymous SNV ENSG00000181767:ENST00000313503:exon1:c.G850A:p.V284M Score=432;Name=lod=76 NA 11q12.1 NA NA NA NA rs1842696 1 1 0.999 0.998403 1 1 1 0.9939 1 1 1 1 1 0.9994 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.08 N 1.23 T -0.976 T 0.000 T 0.044 -2.673 0 3.58 0.518 -0.150 4.300 -2.672616 NA 1 1 0.993633 NA 1 NA 6.3339334 1027 12 72164395 72164395 C T exonic RAB21 NA synonymous SNV RAB21:NM_014999:exon3:c.C243T:p.F81F exonic ENSG00000080371 NA synonymous SNV ENSG00000080371:ENST00000261263:exon3:c.C243T:p.F81F Score=678;Name=lod=758 NA 12q21.1 NA NA NA NA rs3741688 0.17 0.17 0.139 0.160543 0.1074 0.3105 0.219 0.0454 0.1748 0.11 0.33 0.19 0.05 0.1356 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.374982 1.374982 NA 0.089767 0.05379 NA 0.159 NA 6.3338996 1027 1 156646668 156646668 A G exonic NES NA nonsynonymous SNV NES:NM_006617:exon1:c.T389C:p.V130A exonic ENSG00000132688 NA nonsynonymous SNV ENSG00000132688:ENST00000368223:exon1:c.T389C:p.V130A NA NA 1q23.1 NA NA Name=42 NA rs4278369 0.99 0.99 1 0.998403 1 1 1 0.9939 1 1 0.98 0.99 0.98 0.9996 1 0.86 T 0.0 B 0.0 B . . 1.000 P 0.49 N -2.53 D -1.065 T 0.197 T 0.061 -1.876 0.008 1.39 -0.115 0.380 7.750 -1.875936 NA 0.61 0.999837 0.994479 NA 0.428 NA 6.3338964 1027 5 176885178 176885178 A G exonic DBN1 NA nonsynonymous SNV DBN1:NM_004395:exon12:c.T1657C:p.S553P,DBN1:NM_080881:exon13:c.T1663C:p.S555P exonic ENSG00000113758 NA nonsynonymous SNV ENSG00000113758:ENST00000393563:exon5:c.T853C:p.S285P,ENSG00000113758:ENST00000512501:exon5:c.T853C:p.S285P,ENSG00000113758:ENST00000309007:exon12:c.T1657C:p.S553P,ENSG00000113758:ENST00000292385:exon13:c.T1663C:p.S555P,ENSG00000113758:ENST00000393565:exon13:c.T1795C:p.S599P Score=363;Name=lod=40 NA 5q35.3 NA NA NA NA rs28538572 1 1 0.996 0.998802 1 1 1 0.9955 1 1 1 1 0.99 0.9995 1 1 T 0.0 B 0.001 B 0.004 N 1.000 P -0.345 N 1.38 T -0.912 T 0.000 T 0.082 -1.312 0.035 2.85 0.278 0.119 1.464 -1.312321 NA 0.86 1 0.99614 NA 1 NA 6.3338334 1027 2 179621477 179621477 C T exonic TTN NA nonsynonymous SNV TTN:NM_133437:exon44:c.G10213A:p.A3405T,TTN:NM_001267550:exon46:c.G10726A:p.A3576T exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000342175:exon44:c.G10213A:p.A3405T,ENSG00000155657:ENST00000589042:exon46:c.G10726A:p.A3576T Score=594;Name=lod=347 NA 2q31.2 NA NA NA NA rs6433728 1 1 1 0.999002 1 1 1 0.9962 1 1 1 1 1 0.9997 1 0 D 0.0 B 0.0 B . . 0.000 P . . 0.28 T -1.037 T 0.000 T 0.008 2.366 13.87 1.92 0.164 0.226 6.517 2.366304 2.366304 NA 1 0.997366 NA 1 NA 6.3336334 1027 17 44144993 44144993 C G exonic KANSL1 NA nonsynonymous SNV KANSL1:NM_001193466:exon5:c.G1574C:p.R525P,KANSL1:NM_015443:exon5:c.G1574C:p.R525P,KANSL1:NM_001193465:exon6:c.G1574C:p.R525P exonic ENSG00000120071 NA nonsynonymous SNV ENSG00000120071:ENST00000432791:exon4:c.G1574C:p.R525P,ENSG00000120071:ENST00000575318:exon4:c.G1574C:p.R525P,ENSG00000120071:ENST00000262419:exon5:c.G1574C:p.R525P,ENSG00000120071:ENST00000572904:exon5:c.G1574C:p.R525P,ENSG00000120071:ENST00000574590:exon5:c.G1574C:p.R525P NA NA 17q21.31 NA NA NA NA rs144838667 1 1 1 0.999401 1 1 1 0.9977 1 1 1 1 1 0.9997 1 0.51 T 0.001 B 0.0 B . . 1.000 P 0 N 0.92 T -0.982 T 0.000 T 0.109 0.44 6.39 4.24 0.575 2.836 8.757 0.440159 NA 0.05 1 0.996823 NA 1 NA 6.3336334 1027 6 32168771 32168771 G T exonic NOTCH4 NA synonymous SNV NOTCH4:NM_004557:exon23:c.C4152A:p.V1384V exonic ENSG00000204301 NA synonymous SNV ENSG00000204301:ENST00000375023:exon23:c.C4152A:p.V1384V Score=460;Name=lod=99 NA 6p21.32 NA NA NA NA rs3134942 0.07 0.07 0.067 0.0776757 0.1034 0.0278 0.0476 0.0991 0.0951 0.11 0.03 0.05 0.07 0.1007 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.655622 NA NA 0.129014 0.09133 ID=COSM1443593;OCCURENCE=1(large_intestine) 0.152 NA 6.3335526 1027 1 227923081 227923081 G A exonic JMJD4 NA nonsynonymous SNV JMJD4:NM_001161465:exon1:c.C32T:p.A11V,JMJD4:NM_023007:exon1:c.C32T:p.A11V exonic ENSG00000081692 NA nonsynonymous SNV ENSG00000081692:ENST00000366758:exon1:c.C32T:p.A11V,ENSG00000081692:ENST00000438896:exon1:c.C32T:p.A11V NA NA 1q42.13 NA Name=POU2F2,p300,HDAC2_(SC-6296),CHD2_(N-1250),HA-E2F1,GATA-2,USF1_(SC-8983),USF-1,Pol2(phosphoS2),Pol2,FOXA1_(C-20),BCLAF1_(M33-P5B11),ZZZ3,ETS1,HEY1,KAP1,ELF1_(SC-631),STAT1,Pol2-4H8,SP2_(SC-643),GABP,IRF4_(M-17),NFKB,Znf143_(16618-1-AP),ZEB1_(SC-25388),HMGN3,RFX5_(N-494),c-Jun,TAF1,PAX5-C20,NRSF,Mxi1_(bHLH),MEF2C_(SC-13268),E2F4,eGFP-JunD,SIX5,RXRA,Sin3Ak-20,SRF,IRF1,Nrf1,SP1,c-Myc,Oct-2,YY1_(C-20),ZBTB33,Max,TCF4,GTF2F1_(RAP-74),ZNF263,ZBTB7A_(SC-34508),HNF4A_(H-171),BRCA1_(C-1863),YY1,WHIP,AP-2alpha,TBP,CCNT2,TR4,AP-2gamma,Egr-1,ELK4 Name=148 NA rs7419238 1 1 1 1 1 1 1 1 1 0.99 1 1 1 0.9998 1 1 T 0.0 B 0.0 B . . 1.000 P -0.345 N 2.12 T -1.008 T 0.000 T 0.033 -0.254 2.779 1.99 -0.047 -0.100 5.777 -0.253926 NA 0.03 1 0.999752 NA 0.725 NA 6.3335334 1027 11 55681494 55681494 G A exonic OR5W2 NA nonsynonymous SNV OR5W2:NM_001001960:exon1:c.C565T:p.R189C exonic ENSG00000187612 NA nonsynonymous SNV ENSG00000187612:ENST00000344514:exon1:c.C565T:p.R189C NA NA 11q11 NA NA NA NA rs2457239 1 1 0.998 0.999002 1 1 1 0.9962 1 1 1 1 1 0.9998 1 1 T 0.0 B 0.0 B 0.001 N 1.000 P -3.48 N 10.22 T -0.925 T 0.000 T 0.149 -1.197 0.074 5.0 0.736 5.202 9.142 -1.197044 NA 1 1 0.998183 NA 1 NA 6.3335334 1027 6 12122645 12122645 A G exonic HIVEP1 NA nonsynonymous SNV HIVEP1:NM_002114:exon4:c.A2617G:p.T873A exonic ENSG00000095951 NA nonsynonymous SNV ENSG00000095951:ENST00000379388:exon4:c.A2617G:p.T873A NA NA 6p24.1 NA NA NA NA rs6900196 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . 0.0 B 0.0 B 0.505 N 0.000 P 0 N 2.83 T -0.921 T 0.003 T 0.019 -0.735 0.863 -7.96 -1.766 0.931 8.488 -0.734577 NA 0.37 0.999879 1 NA 1 NA 6.3334544 1027 11 67258391 67258391 A G exonic AIP NA nonsynonymous SNV AIP:NM_003977:exon6:c.A920G:p.Q307R exonic ENSG00000110711 NA nonsynonymous SNV ENSG00000110711:ENST00000279146:exon6:c.A920G:p.Q307R Score=436;Name=lod=79 NA 11q13.2 NA NA NA NA rs4930199 1 1 1 0.999401 1 1 1 0.9985 0.999 1 1 1 1 0.9999 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.895 N -0.76 T -0.939 T 0.000 T 0.012 -0.488 1.754 4.49 0.792 0.596 8.946 -0.488428 NA 1 1 0.999317 NA 0.993 NA 6.3334334 1027 17 3514028 3514028 G C exonic SHPK NA nonsynonymous SNV SHPK:NM_013276:exon7:c.C1263G:p.D421E exonic ENSG00000197417,ENSG00000262304 NA nonsynonymous SNV ENSG00000197417:ENST00000225519:exon7:c.C1263G:p.D421E,ENSG00000262304:ENST00000572919:exon7:c.C1263G:p.D421E NA NA 17p13.2 NA Name=NRSF Name=3 NA rs224496 1 1 1 0.999401 1 1 1 0.9977 1 1 1 1 1 0.9999 1 0.4 T 0.0 B 0.0 B 0.019 N 1.000 P -2.14 N 2.32 T -1.014 T 0.000 T 0.127 -2.003 0.007 0.309 -0.055 0.025 5.938 -2.002756 NA 1 1 0.999319 NA 0.986 NA 6.3334334 1027 20 17605240 17605240 A T exonic RRBP1 NA nonsynonymous SNV RRBP1:NM_004587:exon13:c.T1829A:p.L610H,RRBP1:NM_001042576:exon14:c.T1829A:p.L610H exonic ENSG00000125844 NA nonsynonymous SNV ENSG00000125844:ENST00000246043:exon11:c.T3128A:p.L1043H,ENSG00000125844:ENST00000455029:exon12:c.T1151A:p.L384H,ENSG00000125844:ENST00000360807:exon13:c.T1829A:p.L610H,ENSG00000125844:ENST00000377813:exon13:c.T3128A:p.L1043H,ENSG00000125844:ENST00000377807:exon14:c.T1829A:p.L610H Score=484;Name=lod=124 NA 20p12.1 Score=773;Name=V$HEN1_02 NA NA NA rs6034867 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 0.16 T 0.0 B 0.002 B 0.035 N 1.000 P 0 N 1.29 T -1.060 T 0.000 T 0.107 -0.38 2.215 1.65 -0.113 0.036 3.747 -0.379748 NA 0.37 1 0.999773 NA 0.993 NA 6.3334334 1027 1 223283910 223283910 A G exonic TLR5 NA nonsynonymous SNV TLR5:NM_003268:exon6:c.T2464C:p.F822L exonic ENSG00000187554 NA nonsynonymous SNV ENSG00000187554:ENST00000342210:exon4:c.T2464C:p.F822L,ENSG00000187554:ENST00000540964:exon4:c.T2464C:p.F822L,ENSG00000187554:ENST00000366881:exon6:c.T2464C:p.F822L NA NA 1q41 NA NA NA NA rs7512943 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.7 T 0.0 B 0.0 B 0.169 N 1.000 P -2.2 N 3.09 T -1.005 T 0.000 T 0.116 -0.792 0.697 2.58 0.022 0.484 0.575 -0.792442 NA 1 NA NA NA 1 NA 6.3333334 1027 3 179096508 179096508 C G exonic MFN1 NA nonsynonymous SNV MFN1:NM_033540:exon14:c.C1568G:p.P523R exonic ENSG00000171109 NA nonsynonymous SNV ENSG00000171109:ENST00000263969:exon13:c.C1568G:p.P523R,ENSG00000171109:ENST00000471841:exon14:c.C1568G:p.P523R Score=648;Name=lod=574 NA 3q26.33 NA NA NA NA rs7637065 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 0.000 P -1.935 N 1.31 T -0.979 T 0.000 T 0.169 -1.088 0.154 -0.792 -0.785 0.472 8.502 -1.088058 NA 1 NA NA NA 1 NA 6.3333334 1027 5 132150948 132150948 T G exonic SOWAHA NA nonsynonymous SNV SOWAHA:NM_175873:exon1:c.T1635G:p.F545L exonic ENSG00000198944 NA nonsynonymous SNV ENSG00000198944:ENST00000378693:exon1:c.T1635G:p.F545L Score=265;Name=lod=16 NA 5q31.1 NA NA NA NA rs40470 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.788 N 1.000 P -1.79 N 2.5 T -0.987 T 0.000 T 0.092 -0.26 2.749 1.48 0.161 0.257 1.118 -0.260428 NA 1 NA NA NA 1 NA 6.3333334 1027 11 101832478 101832478 G T exonic KIAA1377 NA nonsynonymous SNV KIAA1377:NM_020802:exon6:c.G712T:p.G238C exonic ENSG00000110318 NA nonsynonymous SNV ENSG00000110318:ENST00000537689:exon3:c.G115T:p.G39C,ENSG00000110318:ENST00000263468:exon6:c.G712T:p.G238C Score=553;Name=lod=235 NA 11q22.1 NA NA NA NA rs7926728 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.38 T 0.0 B 0.0 B 0.046 N 0.999 P -1.95 N 3.41 T -1.014 T 0.000 T 0.148 0.722 7.839 1.79 0.070 0.240 4.648 0.721569 NA 0.31 NA NA NA 1 NA 6.3333334 1027 11 108183167 108183167 A G exonic ATM NA nonsynonymous SNV ATM:NM_000051:exon40:c.A5948G:p.N1983S exonic ENSG00000149311 NA nonsynonymous SNV ENSG00000149311:ENST00000278616:exon40:c.A5948G:p.N1983S,ENSG00000149311:ENST00000452508:exon41:c.A5948G:p.N1983S NA NA 11q22.3 NA NA NA NA rs659243 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.188 N 1.000 P 0.69 N 4.99 T -0.932 T 0.000 T 0.063 -0.746 0.829 -0.136 -0.191 -1.058 6.531 -0.745854 NA 0.86 NA NA NA 1 NA 6.3333334 1027 19 55671337 55671337 C T exonic DNAAF3 NA nonsynonymous SNV DNAAF3:NM_001256714:exon10:c.G1294A:p.D432N,DNAAF3:NM_001256715:exon10:c.G1093A:p.D365N,DNAAF3:NM_001256716:exon10:c.G931A:p.D311N,DNAAF3:NM_178837:exon10:c.G1234A:p.D412N exonic ENSG00000167646,ENSG00000267110 NA nonsynonymous SNV ENSG00000167646:ENST00000455045:exon8:c.G931A:p.D311N,ENSG00000167646:ENST00000391720:exon10:c.G1234A:p.D412N,ENSG00000167646:ENST00000524407:exon10:c.G1093A:p.D365N,ENSG00000167646:ENST00000527223:exon10:c.G1294A:p.D432N NA NA 19q13.42 NA NA NA NA rs890872 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 T 0.007 B 0.001 B 0.094 N 1.000 P 0.9 L 2.3 T -0.987 T 0.000 T 0.12 -1.49 0.017 2.26 0.114 0.183 9.09 -1.490298 NA 1 NA NA NA 0.551 NA 6.3333334 1027 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 1027 21 15516976 15516976 T A exonic LIPI NA nonsynonymous SNV LIPI:NM_198996:exon9:c.A1326T:p.R442S exonic ENSG00000188992 NA nonsynonymous SNV ENSG00000188992:ENST00000344577:exon9:c.A1326T:p.R442S,ENSG00000188992:ENST00000536861:exon9:c.A1263T:p.R421S NA NA 21q11.2 NA NA NA NA rs7283442 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.28 T 0.005 B 0.012 B 0.543 N 1.000 P 1.185 L -2.32 D -1.005 T 0.000 T 0.089 0.986 9.024 -0.291 -0.152 -0.045 3.077 0.985529 NA 0.48 NA NA NA 0.986 NA 6.3333334 1027 21 30250555 30250555 T C exonic N6AMT1 NA nonsynonymous SNV N6AMT1:NM_182749:exon4:c.A413G:p.K138R,N6AMT1:NM_013240:exon5:c.A497G:p.K166R exonic ENSG00000156239 NA nonsynonymous SNV ENSG00000156239:ENST00000351429:exon4:c.A413G:p.K138R,ENSG00000156239:ENST00000303775:exon5:c.A497G:p.K166R,ENSG00000156239:ENST00000460212:exon5:c.A497G:p.K166R Score=385;Name=lod=49 NA 21q21.3 NA NA NA NA rs2205446 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.86 T 0.001 B 0.002 B 0.095 N 1.000 P 0.385 N 2.56 T -0.968 T 0.000 T 0.088 -0.551 1.507 1.23 0.117 0.741 5.271 -0.550536 NA 0.74 NA NA NA 1 NA 6.3333334 1027 21 34166190 34166190 A T exonic C21orf62 NA nonsynonymous SNV C21orf62:NM_001162496:exon2:c.T543A:p.F181L,C21orf62:NM_019596:exon3:c.T543A:p.F181L,C21orf62:NM_001162495:exon4:c.T543A:p.F181L exonic ENSG00000205929 NA nonsynonymous SNV ENSG00000205929:ENST00000487113:exon2:c.T543A:p.F181L,ENSG00000205929:ENST00000536776:exon2:c.T543A:p.F181L,ENSG00000205929:ENST00000382373:exon3:c.T684A:p.F228L,ENSG00000205929:ENST00000490358:exon3:c.T543A:p.F181L,ENSG00000205929:ENST00000479548:exon4:c.T543A:p.F181L NA NA 21q22.11 NA NA NA NA rs74617086 NA NA NA 1 1 1 1 1 1 NA NA NA NA 1 1 1 T 0.0 B 0.0 B . . 0.652 N -2.135 N . . -0.975 T 0.010 T 0.227 -1.387 0.024 -2.94 -0.787 0.737 5.757 -1.387371 NA NA NA NA NA 1 NA 6.3333334 1027 X 101138792 101138792 T C exonic ZMAT1 NA nonsynonymous SNV ZMAT1:NM_001011657:exon7:c.A1607G:p.Q536R exonic ENSG00000166432 NA nonsynonymous SNV ENSG00000166432:ENST00000540921:exon6:c.A1607G:p.Q536R,ENSG00000166432:ENST00000372782:exon7:c.A1607G:p.Q536R,ENSG00000166432:ENST00000458570:exon9:c.A1094G:p.Q365R NA NA Xq22.1 NA NA NA NA rs5944882 1 1 1 NA NA NA NA NA NA 1 1 1 1 1 1 1 T 0.0 B 0.0 B 0.004 N 1.000 P -0.805 N 2.65 T -0.964 T 0.000 T 0.068 -0.955 0.334 0.612 -0.260 -0.195 8.699 -0.954561 NA 1 NA NA NA 0.746 NA 6.3333334 1027 11 19901632 19901632 G A exonic NAV2 NA synonymous SNV NAV2:NM_001111018:exon5:c.G537A:p.A179A,NAV2:NM_001244963:exon5:c.G729A:p.A243A,NAV2:NM_145117:exon5:c.G729A:p.A243A,NAV2:NM_182964:exon5:c.G729A:p.A243A exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000349880:exon5:c.G729A:p.A243A,ENSG00000166833:ENST00000360655:exon5:c.G537A:p.A179A,ENSG00000166833:ENST00000396085:exon5:c.G729A:p.A243A,ENSG00000166833:ENST00000396087:exon5:c.G729A:p.A243A,ENSG00000166833:ENST00000527559:exon6:c.G516A:p.A172A,ENSG00000166833:ENST00000540292:exon6:c.G522A:p.A174A Score=631;Name=lod=489 NA 11p15.1 Score=782;Name=V$XBP1_01 NA NA NA rs11025310 0.36 0.36 0.349 0.311901 0.4871 0.3274 0.3199 0.1702 0.3016 0.51 0.35 0.32 0.16 0.4017 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.239583 1.239583 NA 0.444561 0.176752 NA 0.254 NA 6.3333056 1027 9 116346710 116346710 G C intronic RGS3 NA NA NA ncRNA_intronic ENSG00000237073 NA NA NA Score=456;Name=lod=95 NA 9q32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005077 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.687204 1.687204 NA NA NA NA NA NA 6.3332825 1027 10 104835919 104835919 C T exonic CNNM2 NA synonymous SNV CNNM2:NM_199076:exon6:c.C2244T:p.A748A,CNNM2:NM_017649:exon7:c.C2310T:p.A770A exonic ENSG00000148842 NA synonymous SNV ENSG00000148842:ENST00000433628:exon6:c.C2244T:p.A748A,ENSG00000148842:ENST00000369878:exon7:c.C2310T:p.A770A,ENSG00000148842:ENST00000457502:exon7:c.C1584T:p.A528A NA NA 10q24.32 Score=886;Name=V$CDPCR3HD_01 NA NA NA rs943037 0.13 0.13 0.121 0.151757 0.0885 0.2877 0.1916 0.0219 0.2239 0.09 0.28 0.15 0.02 0.1585 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.759096 NA NA 0.086437 0.0375 NA 0.036 NA 6.3332296 1027 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 1027 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$HTF_01 NA NA NA rs3739609 0.46 0.46 0.474 0.501797 0.4473 0.503 0.2968 0.5923 0.5798 0.44 0.47 0.31 0.59 0.4405 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.118709 NA NA 0.446977 0.579437 NA 0.493 NA 6.3318896 1027 17 27869968 27869968 G A exonic TAOK1 NA synonymous SNV TAOK1:NM_025142:exon18:c.G2490A:p.T830T,TAOK1:NM_020791:exon20:c.G2934A:p.T978T exonic ENSG00000160551 NA synonymous SNV ENSG00000160551:ENST00000536202:exon18:c.G2490A:p.T830T,ENSG00000160551:ENST00000261716:exon20:c.G2934A:p.T978T Score=820;Name=lod=2877 NA 17q11.2 Score=724;Name=V$HOX13_01 NA NA NA rs507577 0.28 0.28 0.264 0.270966 0.4592 0.0317 0.4135 0.1808 0.3446 0.46 0.03 0.42 0.18 0.4027 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.551333 NA NA 0.473133 0.226055 NA 0.239 NA 6.3316336 1027 3 53529175 53529175 G A UTR5 CACNA1D NM_001128840:c.-19G>A,NM_001128839:c.-19G>A,NM_000720:c.-19G>A NA NA UTR5 ENSG00000157388 ENST00000350061:c.-19G>A,ENST00000288139:c.-19G>A NA NA Score=607;Name=lod=392 NA 3p21.1 NA NA Name=2 NA rs72556353 NA NA NA NA NA NA NA NA NA NA 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 2.709237 2.709237 NA 0.001279 0 NA NA NA 6.3315544 1027 9 117848201 117848201 T C exonic TNC NA synonymous SNV TNC:NM_002160:exon3:c.A1809G:p.Q603Q exonic ENSG00000041982 NA synonymous SNV ENSG00000041982:ENST00000341037:exon2:c.A1809G:p.Q603Q,ENSG00000041982:ENST00000537320:exon2:c.A1809G:p.Q603Q,ENSG00000041982:ENST00000542877:exon2:c.A1809G:p.Q603Q,ENSG00000041982:ENST00000340094:exon3:c.A1809G:p.Q603Q,ENSG00000041982:ENST00000345230:exon3:c.A1809G:p.Q603Q,ENSG00000041982:ENST00000346706:exon3:c.A1809G:p.Q603Q,ENSG00000041982:ENST00000350763:exon3:c.A1809G:p.Q603Q,ENSG00000041982:ENST00000423613:exon3:c.A1809G:p.Q603Q,ENSG00000041982:ENST00000535648:exon3:c.A1809G:p.Q603Q Score=358;Name=lod=38 NA 9q33.1 NA NA NA NA rs3827815 0.1 0.1 0.093 0.0990415 0.1213 0.119 0.0937 0.053 0.1217 0.1 0.13 0.09 0.05 0.1059 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.351343 NA NA 0.10814 0.050613 ID=COSM150689;OCCURENCE=1(stomach) 0.101 NA 6.3313266 1027 6 88046800 88046800 G A exonic SMIM8 NA synonymous SNV SMIM8:NM_020425:exon2:c.G51A:p.E17E,SMIM8:NM_001042493:exon3:c.G51A:p.E17E exonic ENSG00000111850 NA synonymous SNV ENSG00000111850:ENST00000229570:exon2:c.G51A:p.E17E,ENSG00000111850:ENST00000392863:exon3:c.G51A:p.E17E Score=503;Name=lod=147 NA 6q15 NA NA NA NA rs1048893 0.1 0.1 0.069 0.111621 0.1153 0.1349 0.0706 0.0976 0.1319 0.11 0.12 0.08 0.09 0.1093 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 0.674294 NA NA 0.111279 0.096913 NA 0.072 NA 6.3307876 1027 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$GATA1_03 NA NA NA rs2241714 0.65 0.65 0.662 0.649561 0.675 0.4464 0.5461 0.8608 0.6207 0.68 0.48 0.59 0.85 0.655 0.85 0.11 T 0.001 B 0.005 B 0.063 N 0.000 P 1.725 L -0.44 T -1.030 T 0.000 T 0.036 1.538 11.1 -1.13 -0.144 -0.226 5.371 1.538474 1.538474 0.22 0.672791 0.825465 NA 0.696 NA 6.3305424 1027 6 168343838 168343838 T C exonic MLLT4 NA synonymous SNV MLLT4:NM_001207008:exon22:c.T3060C:p.Y1020Y,MLLT4:NM_001040000:exon23:c.T3108C:p.Y1036Y exonic ENSG00000130396 NA synonymous SNV ENSG00000130396:ENST00000344191:exon23:c.T3108C:p.Y1036Y,ENSG00000130396:ENST00000392108:exon23:c.T3108C:p.Y1036Y,ENSG00000130396:ENST00000392112:exon23:c.T3060C:p.Y1020Y,ENSG00000130396:ENST00000400822:exon23:c.T3105C:p.Y1035Y,ENSG00000130396:ENST00000447894:exon23:c.T3108C:p.Y1036Y,ENSG00000130396:ENST00000351017:exon24:c.T3129C:p.Y1043Y,ENSG00000130396:ENST00000366806:exon24:c.T3108C:p.Y1036Y Score=536;Name=lod=202 NA 6q27 Score=870;Name=V$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 1027 9 37948724 37948724 T C exonic SHB NA synonymous SNV SHB:NM_003028:exon5:c.A1254G:p.G418G exonic ENSG00000107338 NA synonymous SNV ENSG00000107338:ENST00000377707:exon5:c.A1254G:p.G418G Score=509;Name=lod=156 NA 9p13.2 NA NA NA NA rs3827519 0.12 0.12 0.106 0.140775 0.1103 0.1369 0.1052 0.1778 0.1513 0.11 0.14 0.1 0.13 0.1214 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.145044 NA NA 0.105509 0.157437 ID=COSM150610;OCCURENCE=1(breast),1(stomach) 0.101 NA 6.3294576 1027 16 1841033 1841033 G A exonic IGFALS NA synonymous SNV IGFALS:NM_001146006:exon2:c.C1500T:p.Y500Y,IGFALS:NM_004970:exon2:c.C1386T:p.Y462Y exonic ENSG00000099769 NA synonymous SNV ENSG00000099769:ENST00000215539:exon2:c.C1386T:p.Y462Y,ENSG00000099769:ENST00000415638:exon2:c.C1500T:p.Y500Y Score=439;Name=lod=81 NA 16p13.3 NA NA NA NA rs17559 0.19 0.19 0.18 0.25619 0.0934 0.1548 0.0922 0.4818 0.3395 0.09 0.15 0.09 0.45 0.1541 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.897708 NA NA 0.089753 0.382298 ID=COSM434735;OCCURENCE=1(breast) 0.181 NA 6.3294136 1027 3 126735453 126735453 C T exonic PLXNA1 NA synonymous SNV PLXNA1:NM_032242:exon15:c.C3108T:p.T1036T exonic ENSG00000114554 NA synonymous SNV ENSG00000114554:ENST00000251772:exon15:c.C3039T:p.T1013T,ENSG00000114554:ENST00000393409:exon15:c.C3108T:p.T1036T Score=429;Name=lod=74 NA 3q21.3 NA NA NA NA rs9858521 0.12 0.12 0.107 0.149361 0.1203 0.2083 0.0548 0.0946 0.2597 0.12 0.16 0.06 0.11 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 1.476422 1.476422 NA 0.101163 0.091466 NA 0.051 NA 6.3293036 1027 20 47253043 47253043 G A exonic PREX1 NA synonymous SNV PREX1:NM_020820:exon32:c.C4125T:p.G1375G exonic ENSG00000124126 NA synonymous SNV ENSG00000124126:ENST00000371941:exon32:c.C4125T:p.G1375G,ENSG00000124126:ENST00000396220:exon32:c.C4125T:p.G1375G NA NA 20q13.13 Score=726;Name=V$SEF1_C NA NA NA rs11553083 0.11 0.11 0.113 0.101038 0.1163 0.0615 0.0865 0.1407 0.0828 0.11 0.07 0.1 0.17 0.1115 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.231458 NA NA 0.109812 0.118108 ID=COSM1412278,COSM1412279;OCCURENCE=1(large_intestine) 0.116 NA 6.3290546 1027 3 138664422 138664422 T A UTR3 FOXL2 NM_023067:c.*12A>T NA NA UTR3 ENSG00000183770 ENST00000330315:c.*12A>T NA NA NA NA 3q22.3 NA Name=E2F6,E2F6_(H-50),Max Name=22 NA rs199498438 0.0009 0.0009 NA 0.00119808 0.001 NA 0.0029 NA 0.0031 0.0013 NA 0.0028 NA 0.0014 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 1.527437 1.527437 NA 0.002095 0.000682 NA NA NA 6.3288384 1027 17 10544416 10544416 G T exonic MYH3 NA synonymous SNV MYH3:NM_002470:exon19:c.C2151A:p.G717G exonic ENSG00000109063 NA synonymous SNV ENSG00000109063:ENST00000226209:exon18:c.C2151A:p.G717G,ENSG00000109063:ENST00000583535:exon19:c.C2151A:p.G717G Score=539;Name=lod=207 NA 17p13.1 NA NA NA NA rs876657 0.5 0.5 0.487 NA NA NA NA NA NA 0.74 0.37 0.52 0.27 0.6092 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846713 NA NA 0.728721 0.294825 NA 0.616 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117661.1;CLNDSDB=.;CLNDSDBID=. 6.3287456 1027 14 20404091 20404091 G A exonic OR4K1 NA nonsynonymous SNV OR4K1:NM_001004063:exon1:c.G266A:p.R89H exonic ENSG00000155249 NA nonsynonymous SNV ENSG00000155249:ENST00000285600:exon1:c.G266A:p.R89H NA NA 14q11.2 NA NA NA NA rs12885778 0.3 0.3 0.278 0.321885 0.336 0.2718 0.2594 0.3336 0.3875 0.35 0.26 0.27 0.3 0.3251 0.36 1 T 0.0 B 0.0 B 0.444 N 1.000 P -0.015 N 4.75 T -0.962 T 0.000 T 0.07 -2.496 0.003 -0.184 0.065 -0.499 8.714 -2.49596 NA 1 0.34407 0.340218 NA 0.384 NA 6.3281634 1027 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 1027 11 57310307 57310307 A G exonic SMTNL1 NA synonymous SNV SMTNL1:NM_001105565:exon1:c.A192G:p.A64A exonic ENSG00000214872 NA synonymous SNV ENSG00000214872:ENST00000399154:exon1:c.A192G:p.A64A,ENSG00000214872:ENST00000527972:exon1:c.A192G:p.A64A,ENSG00000214872:ENST00000457912:exon2:c.A246G:p.A82A NA NA 11q12.1 NA NA Name=2 NA rs80123614 0.09 0.09 0.092 0.0930511 0.1083 0.0496 0.0807 0.0711 0.1605 0.11 0.06 0.1 0.08 0.1159 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 0.312982 NA NA 0.115302 0.066917 NA 0.043 NA 6.3271646 1027 14 101005215 101005215 T C exonic BEGAIN NA synonymous SNV BEGAIN:NM_001159531:exon6:c.A873G:p.A291A,BEGAIN:NM_020836:exon7:c.A873G:p.A291A exonic ENSG00000183092 NA synonymous SNV ENSG00000183092:ENST00000556751:exon5:c.A681G:p.A227A,ENSG00000183092:ENST00000443071:exon6:c.A873G:p.A291A,ENSG00000183092:ENST00000355173:exon7:c.A873G:p.A291A Score=643;Name=lod=545 NA 14q32.2 Score=734;Name=V$MYOGNF1_01 NA NA NA rs12893951 0.66 0.66 0.57 0.650958 0.4274 0.7093 0.6254 0.969 0.409 0.43 0.73 0.62 0.96 0.5048 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 -0.077329 NA NA 0.408002 0.880227 NA 0.493 NA 6.3264646 1027 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 1027 11 67171736 67171736 C T exonic TBC1D10C NA synonymous SNV TBC1D10C:NM_001256508:exon2:c.C63T:p.S21S,TBC1D10C:NM_198517:exon2:c.C63T:p.S21S exonic ENSG00000175463 NA synonymous SNV ENSG00000175463:ENST00000529635:exon1:c.C63T:p.S21S,ENSG00000175463:ENST00000542590:exon1:c.C63T:p.S21S,ENSG00000175463:ENST00000312390:exon2:c.C63T:p.S21S,ENSG00000175463:ENST00000526387:exon2:c.C63T:p.S21S NA NA 11q13.2 NA NA Name=3 NA rs2514256 0.34 0.34 0.323 0.351837 0.0785 0.2589 0.4049 0.8283 0.047 0.08 0.26 0.32 0.82 0.1886 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 0.439366 NA NA 0.073862 0.670915 ID=COSM429704;OCCURENCE=1(breast) 0.377 NA 6.3257046 1028 9 8518395 8518395 G A exonic PTPRD NA synonymous SNV PTPRD:NM_001171025:exon8:c.C966T:p.T322T,PTPRD:NM_001040712:exon9:c.C987T:p.T329T,PTPRD:NM_130393:exon9:c.C978T:p.T326T,PTPRD:NM_130391:exon10:c.C996T:p.T332T,PTPRD:NM_130392:exon10:c.C996T:p.T332T,PTPRD:NM_002839:exon21:c.C996T:p.T332T exonic ENSG00000153707 NA synonymous SNV ENSG00000153707:ENST00000358503:exon7:c.C957T:p.T319T,ENSG00000153707:ENST00000360074:exon7:c.C957T:p.T319T,ENSG00000153707:ENST00000397606:exon8:c.C966T:p.T322T,ENSG00000153707:ENST00000397617:exon8:c.C966T:p.T322T,ENSG00000153707:ENST00000537002:exon8:c.C987T:p.T329T,ENSG00000153707:ENST00000397611:exon9:c.C987T:p.T329T,ENSG00000153707:ENST00000355233:exon10:c.C996T:p.T332T,ENSG00000153707:ENST00000356435:exon10:c.C996T:p.T332T,ENSG00000153707:ENST00000486161:exon10:c.C996T:p.T332T,ENSG00000153707:ENST00000540109:exon10:c.C996T:p.T332T,ENSG00000153707:ENST00000381196:exon18:c.C996T:p.T332T NA NA 9p24.1 Score=906;Name=V$AP1FJ_Q2 NA NA NA rs3763653 0.18 0.18 0.163 0.177316 0.1024 0.2768 0.1585 0.2073 0.1247 0.1 0.25 0.17 0.25 0.1347 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014172 NA NA 0.105024 0.171584 NA 0.116 NA 6.3245426 1028 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 1028 16 88779753 88779753 C T exonic CTU2 NA synonymous SNV CTU2:NM_001012759:exon8:c.C771T:p.H257H,CTU2:NM_001012762:exon8:c.C771T:p.H257H exonic ENSG00000174177 NA synonymous SNV ENSG00000174177:ENST00000378384:exon7:c.C510T:p.H170H,ENSG00000174177:ENST00000312060:exon8:c.C771T:p.H257H,ENSG00000174177:ENST00000453996:exon8:c.C771T:p.H257H,ENSG00000174177:ENST00000567949:exon8:c.C984T:p.H328H NA NA 16q24.3 NA Name=ZBTB7A_(SC-34508) NA NA rs73262667 0.12 0.12 0.132 0.117612 0.1133 0.0615 0.0807 0.2277 0.0573 0.11 0.05 0.11 0.23 0.1056 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694243 NA NA 0.12372 0.218593 NA 0.138 NA 6.3240466 1028 6 32025863 32025863 C T exonic TNXB NA synonymous SNV TNXB:NM_019105:exon22:c.G7797A:p.L2599L exonic ENSG00000168477 NA synonymous SNV ENSG00000168477:ENST00000375244:exon22:c.G7797A:p.L2599L,ENSG00000168477:ENST00000375247:exon22:c.G7797A:p.L2599L Score=343;Name=lod=33 NA 6p21.33 NA NA NA NA rs369637 0.06 0.06 0.064 0.0495208 0.1113 0.0169 0.0432 0.0469 0.0276 0.11 0.02 0.04 0.05 0.0939 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726503 NA NA 0.137811 0.049811 NA 0.109 NA 6.3236556 1028 19 36583651 36583651 G A exonic WDR62 NA synonymous SNV WDR62:NM_001083961:exon19:c.G2271A:p.L757L,WDR62:NM_173636:exon19:c.G2271A:p.L757L exonic ENSG00000075702 NA synonymous SNV ENSG00000075702:ENST00000270301:exon19:c.G2271A:p.L757L,ENSG00000075702:ENST00000401500:exon19:c.G2271A:p.L757L Score=516;Name=lod=166 NA 19q13.12 NA NA NA NA rs61494900 0.11 0.11 0.118 0.122804 0.1342 NA 0.0735 0.2617 0.0849 0.13 NA 0.1 0.23 0.1064 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.841659 NA NA 0.103488 0.228098 NA 0.152 NA 6.3225786 1028 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 1028 10 135032376 135032376 A G exonic KNDC1 NA synonymous SNV KNDC1:NM_152643:exon27:c.A4719G:p.K1573K exonic ENSG00000171798 NA synonymous SNV ENSG00000171798:ENST00000304613:exon27:c.A4719G:p.K1573K,ENSG00000171798:ENST00000368572:exon27:c.A4725G:p.K1575K Score=473;Name=lod=112 NA 10q26.3 NA NA NA NA rs3008370 0.1 0.1 0.073 0.104832 0.1113 0.1171 0.1671 0.0129 0.1656 0.12 0.1 0.15 0.02 0.1157 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.434288 1.434288 NA 0.117558 0.027463 NA 0.123 NA 6.3221086 1028 19 9964946 9964946 G A exonic OLFM2 NA synonymous SNV OLFM2:NM_058164:exon6:c.C1281T:p.R427R exonic ENSG00000105088 NA synonymous SNV ENSG00000105088:ENST00000590841:exon5:c.C1047T:p.R349R,ENSG00000105088:ENST00000264833:exon6:c.C1281T:p.R427R Score=573;Name=lod=283 NA 19p13.2 NA NA NA NA rs11556088 0.08 0.08 0.064 0.0832668 0.1123 0.0923 0.0562 0.0393 0.1227 0.11 0.08 0.07 0.04 0.1107 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 0.662372 NA NA 0.121977 0.059918 NA 0.036 NA 6.3216896 1028 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 1028 14 78374172 78374172 C T exonic ADCK1 NA synonymous SNV ADCK1:NM_001142545:exon6:c.C564T:p.S188S,ADCK1:NM_020421:exon7:c.C768T:p.S256S exonic ENSG00000063761 NA synonymous SNV ENSG00000063761:ENST00000341211:exon6:c.C564T:p.S188S,ENSG00000063761:ENST00000238561:exon7:c.C768T:p.S256S Score=564;Name=lod=262 NA 14q24.3 NA NA NA NA rs34272020 0.08 0.08 0.068 0.0764776 0.1322 0.001 0.0994 0.1014 0.047 0.13 NA 0.1 0.1 0.0979 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.414226 1.414226 NA 0.115349 0.120517 NA 0.043 NA 6.3212176 1028 11 113698002 113698002 C T exonic USP28 NA synonymous SNV USP28:NM_020886:exon11:c.G1140A:p.E380E exonic ENSG00000048028 NA synonymous SNV ENSG00000048028:ENST00000544967:exon2:c.G264A:p.E88E,ENSG00000048028:ENST00000538475:exon5:c.G432A:p.E144E,ENSG00000048028:ENST00000545540:exon9:c.G765A:p.E255E,ENSG00000048028:ENST00000003302:exon11:c.G1140A:p.E380E,ENSG00000048028:ENST00000260188:exon11:c.G1140A:p.E380E,ENSG00000048028:ENST00000537706:exon11:c.G1140A:p.E380E Score=686;Name=lod=818 NA 11q23.2 NA NA NA NA rs17802314 0.11 0.11 0.1 0.0958466 0.1203 0.1419 0.0548 0.0666 0.092 0.12 0.16 0.06 0.06 0.1079 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.82405 NA NA 0.117668 0.076783 NA 0.094 NA 6.3207986 1028 10 105361816 105361816 T G exonic SH3PXD2A NA synonymous SNV SH3PXD2A:NM_014631:exon14:c.A3075C:p.I1025I exonic ENSG00000107957 NA synonymous SNV ENSG00000107957:ENST00000538130:exon9:c.A2664C:p.I888I,ENSG00000107957:ENST00000540321:exon9:c.A2760C:p.I920I,ENSG00000107957:ENST00000355946:exon14:c.A3075C:p.I1025I,ENSG00000107957:ENST00000369774:exon15:c.A3159C:p.I1053I Score=346;Name=lod=34 NA 10q24.33 NA NA NA NA rs4918031 0.87 0.87 0.87 0.879992 0.7545 0.999 0.8761 0.882 0.8865 0.76 1 0.85 0.91 0.8214 1 . . . . . . . . 0.000 P . . . . -1.012 T 0.000 T . -0.492 1.739 2.38 0.247 0.097 4.904 -0.492241 NA NA 0.770581 0.861779 NA 0.855 NA 6.3201856 1028 9 113163239 113163239 A C exonic SVEP1 NA synonymous SNV SVEP1:NM_153366:exon40:c.T9717G:p.V3239V exonic ENSG00000165124 NA synonymous SNV ENSG00000165124:ENST00000297826:exon5:c.T3495G:p.V1165V,ENSG00000165124:ENST00000374469:exon40:c.T9648G:p.V3216V,ENSG00000165124:ENST00000401783:exon40:c.T9717G:p.V3239V Score=435;Name=lod=78 NA 9q31.3 NA NA NA NA rs1410048 0.09 0.09 0.067 0.086262 0.1064 0.0903 0.1455 0.0061 0.1278 0.1 0.1 0.12 0.02 0.122 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 1.145304 NA NA 0.118537 0.026372 NA 0.174 NA 6.3197296 1028 11 67191449 67191449 T C exonic CARNS1 NA synonymous SNV CARNS1:NM_020811:exon9:c.T1861C:p.L621L,CARNS1:NM_001166222:exon10:c.T2230C:p.L744L exonic ENSG00000172508 NA synonymous SNV ENSG00000172508:ENST00000307823:exon9:c.T1861C:p.L621L,ENSG00000172508:ENST00000445895:exon9:c.T2230C:p.L744L,ENSG00000172508:ENST00000423745:exon10:c.T1861C:p.L621L,ENSG00000172508:ENST00000531040:exon11:c.T2152C:p.L718L Score=417;Name=lod=66 NA 11q13.2 NA NA NA NA rs1790747 0.35 0.35 0.315 0.359824 0.0835 0.2897 0.4063 0.8298 0.0481 0.09 0.3 0.32 0.81 0.1874 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 0.498667 NA NA 0.077169 0.669846 NA 0.341 NA 6.3185976 1028 22 46704243 46704243 C T exonic GTSE1 NA synonymous SNV GTSE1:NM_016426:exon4:c.C165T:p.F55F exonic ENSG00000075218 NA synonymous SNV ENSG00000075218:ENST00000454366:exon4:c.C165T:p.F55F Score=467;Name=lod=105 NA 22q13.31 NA NA NA NA rs6008598 0.15 0.15 0.155 0.14976 0.1302 0.002 0.0951 0.3858 0.0419 0.13 0.0017 0.12 0.37 0.1067 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129651 NA NA 0.111279 0.343168 NA 0.159 NA 6.3184876 1028 11 64111928 64111928 T C exonic CCDC88B NA nonsynonymous SNV CCDC88B:NM_032251:exon14:c.T1915C:p.W639R exonic ENSG00000168071 NA nonsynonymous SNV ENSG00000168071:ENST00000356786:exon14:c.T1915C:p.W639R NA NA 11q13.1 NA NA NA NA rs685870 0.52 0.52 0.492 0.533746 0.6769 0.3492 0.562 0.3843 0.7587 0.68 0.37 0.57 0.42 0.646 0.69 0.58 T 0.0 B 0.0 B . . 1.000 P 0 N 2.05 T -0.995 T 0.000 T 0.012 -0.453 1.901 -1.31 -0.307 -0.975 5.154 -0.453005 NA 0.68 0.693042 0.433409 ID=COSM429538;OCCURENCE=1(breast) 0.609 NA 6.3173914 1028 8 144413416 144413416 G A exonic TOP1MT NA synonymous SNV TOP1MT:NM_052963:exon2:c.C216T:p.D72D exonic ENSG00000184428 NA synonymous SNV ENSG00000184428:ENST00000329245:exon2:c.C216T:p.D72D,ENSG00000184428:ENST00000518951:exon2:c.C216T:p.D72D,ENSG00000184428:ENST00000518007:exon3:c.C123T:p.D41D,ENSG00000184428:ENST00000522043:exon3:c.C387T:p.D129D,ENSG00000184428:ENST00000518760:exon4:c.C294T:p.D98D NA NA 8q24.3 Score=800;Name=V$OLF1_01 NA NA NA rs2450772 0.17 0.17 0.168 0.1877 0.1103 0.0813 0.0893 0.4629 0.0746 0.1 0.09 0.11 0.39 0.1259 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092918 NA NA 0.11314 0.407172 NA 0.21 NA 6.3173266 1028 5 5460619 5460619 G C exonic KIAA0947 NA nonsynonymous SNV KIAA0947:NM_015325:exon13:c.G1172C:p.C391S exonic ENSG00000164151 NA nonsynonymous SNV ENSG00000164151:ENST00000296564:exon13:c.G1172C:p.C391S NA NA 5p15.32 NA NA NA NA rs2619844 0.7 0.7 0.698 0.722244 0.6511 0.6944 0.8228 0.711 0.7679 0.64 0.73 0.77 0.7 0.6964 0.77 0.65 T 0.0 B 0.0 B 0.685 N 1.000 P -0.895 N 1.37 T -0.991 T 0.000 T 0.016 -1.336 0.031 2.5 0.319 -0.728 7.318 -1.335719 NA 0.89 0.668664 0.730727 NA 0.746 NA 6.3171694 1028 1 157508882 157508882 C T exonic FCRL5 NA nonsynonymous SNV FCRL5:NM_001195388:exon7:c.G1396A:p.V466I,FCRL5:NM_031281:exon7:c.G1396A:p.V466I exonic ENSG00000143297 NA nonsynonymous SNV ENSG00000143297:ENST00000368191:exon6:c.G1141A:p.V381I,ENSG00000143297:ENST00000356953:exon7:c.G1396A:p.V466I,ENSG00000143297:ENST00000361835:exon7:c.G1396A:p.V466I,ENSG00000143297:ENST00000368189:exon7:c.G1396A:p.V466I,ENSG00000143297:ENST00000368190:exon7:c.G1396A:p.V466I NA NA 1q23.1 NA NA NA NA rs6427384 0.71 0.71 0.695 0.693291 0.8539 0.7887 0.8098 0.3222 0.8487 0.86 0.77 0.8 0.34 0.8142 0.86 0.28 T 0.718 P 0.242 B . . 1.000 P 1.185 L 2.74 T -0.965 T 0.008 T 0.084 1.336 10.39 -1.74 -0.541 -2.010 3.012 1.335903 1.335903 0.25 0.848605 0.407626 NA 0.645 NA 6.3166284 1028 8 10469233 10469233 A G exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.T2375C:p.L792P exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.T2375C:p.L792P NA NA 8p23.1 NA NA NA NA rs35602868 0.33 0.33 0.307 0.314896 0.5567 0.0218 0.3602 0.3525 0.2853 0.53 0.02 0.38 0.34 0.4235 0.54 0.23 T 0.649 P 0.219 B 0.132 U 1.000 P 0.55 N 3.15 T -0.953 T 0.000 T 0.127 1.881 12.25 -0.8 0.226 -0.052 5.537 1.881182 1.881182 0.14 0.537364 0.348921 NA 0.42 NA 6.3157694 1029 1 216692669 216692669 C T exonic ESRRG NA synonymous SNV ESRRG:NM_001243505:exon6:c.G204A:p.S68S,ESRRG:NM_001243506:exon6:c.G402A:p.S134S,ESRRG:NM_001243511:exon6:c.G888A:p.S296S,ESRRG:NM_001243514:exon6:c.G888A:p.S296S,ESRRG:NM_001438:exon6:c.G957A:p.S319S,ESRRG:NM_001243507:exon7:c.G771A:p.S257S,ESRRG:NM_001243510:exon7:c.G888A:p.S296S,ESRRG:NM_001243513:exon7:c.G888A:p.S296S,ESRRG:NM_001243518:exon7:c.G993A:p.S331S,ESRRG:NM_206595:exon7:c.G888A:p.S296S,ESRRG:NM_001134285:exon8:c.G888A:p.S296S,ESRRG:NM_001243509:exon8:c.G888A:p.S296S,ESRRG:NM_001243512:exon8:c.G888A:p.S296S,ESRRG:NM_001243515:exon8:c.G888A:p.S296S,ESRRG:NM_001243519:exon8:c.G888A:p.S296S,ESRRG:NM_206594:exon8:c.G888A:p.S296S exonic ENSG00000196482 NA synonymous SNV ENSG00000196482:ENST00000360012:exon6:c.G888A:p.S296S,ENSG00000196482:ENST00000408911:exon6:c.G957A:p.S319S,ENSG00000196482:ENST00000359162:exon7:c.G888A:p.S296S,ENSG00000196482:ENST00000361395:exon7:c.G888A:p.S296S,ENSG00000196482:ENST00000366937:exon7:c.G993A:p.S331S,ENSG00000196482:ENST00000366938:exon7:c.G888A:p.S296S,ENSG00000196482:ENST00000463665:exon7:c.G771A:p.S257S,ENSG00000196482:ENST00000361525:exon8:c.G888A:p.S296S,ENSG00000196482:ENST00000366940:exon8:c.G888A:p.S296S,ENSG00000196482:ENST00000391890:exon8:c.G909A:p.S303S,ENSG00000196482:ENST00000475275:exon8:c.G888A:p.S296S,ENSG00000196482:ENST00000487276:exon8:c.G888A:p.S296S,ENSG00000196482:ENST00000493603:exon8:c.G888A:p.S296S,ENSG00000196482:ENST00000493748:exon8:c.G888A:p.S296S NA NA 1q41 NA Name=Rad21,p300,GATA-2 Name=10 NA rs945453 0.61 0.61 0.606 0.632588 0.4344 0.7381 0.6354 0.733 0.59 0.42 0.75 0.61 0.74 0.503 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 0.077556 NA NA 0.414302 0.661598 NA 0.594 NA 6.3149646 1029 4 184426387 184426387 C T exonic ING2 NA synonymous SNV ING2:NM_001564:exon1:c.C39T:p.A13A exonic ENSG00000168556 NA synonymous SNV ENSG00000168556:ENST00000302327:exon1:c.C39T:p.A13A Score=682;Name=lod=785 NA 4q35.1 NA Name=GABP,HMGN3,HEY1,Pol2,PAX5-C20,Sin3Ak-20,SETDB1 Name=28 NA rs8872 0.71 0.71 0.691 0.713259 0.8022 0.6349 0.6527 0.7209 0.7352 0.8 0.62 0.71 0.68 0.7597 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 2.100946 2.100946 NA 0.789991 0.705316 ID=COSM447656;OCCURENCE=1(breast) 0.181 NA 6.3147756 1029 6 7247248 7247248 T C exonic RREB1 NA nonsynonymous SNV RREB1:NM_001003698:exon11:c.T4400C:p.L1467P,RREB1:NM_001168344:exon11:c.T4400C:p.L1467P,RREB1:NM_001003699:exon12:c.T4565C:p.L1522P exonic ENSG00000124782 NA nonsynonymous SNV ENSG00000124782:ENST00000349384:exon11:c.T4400C:p.L1467P,ENSG00000124782:ENST00000379933:exon11:c.T4400C:p.L1467P,ENSG00000124782:ENST00000379938:exon12:c.T4565C:p.L1522P NA NA 6p24.3 NA NA NA NA rs2256596 0.75 0.75 0.739 0.782149 0.6561 0.7937 0.6254 0.9546 0.7781 0.65 0.78 0.64 0.95 0.71 0.95 0.29 T 0.0 B 0.0 B 0.639 N 0.061 P -0.345 N 2.88 T -0.918 T 0.005 T 0.012 -0.457 1.883 1.64 -0.208 1.820 9.509 -0.457398 NA 0.26 0.652536 0.892364 NA 0.739 NA 6.3146974 1029 1 46860011 46860011 T G UTR5 FAAH NM_001441:c.-10T>G NA NA UTR5 ENSG00000117480 ENST00000243167:c.-10T>G NA NA NA NA 1p33 NA Name=TAF7_(SQ-8),HDAC2_(SC-6296),Sin3Ak-20,E2F6_(H-50),ZBTB33,YY1_(C-20),TCF4,Pol2,SP1,CHD2_(N-1250),HA-E2F1,c-Myc,HEY1,BHLHE40,JunD,TAF1,RFX5_(N-494),GABP,Pol2-4H8,NANOG_(SC-33759) Name=75 NA rs200388505 NA NA NA 0.00259585 0.007 NA 0.0014 NA 0.0051 NA NA NA NA 0.0091 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 0.797492 NA NA 0.002571 0 NA NA NA 6.3146624 1029 12 113357209 113357209 G A exonic OAS1 NA nonsynonymous SNV OAS1:NM_016816:exon6:c.G1054A:p.A352T exonic ENSG00000089127 NA nonsynonymous SNV ENSG00000089127:ENST00000552526:exon1:c.G16A:p.A6T,ENSG00000089127:ENST00000202917:exon6:c.G1054A:p.A352T NA NA 12q24.13 NA NA NA NA rs1131476 0.78 0.78 0.767 0.78774 0.6551 0.745 0.7954 0.9728 0.7127 0.66 0.78 0.77 0.98 0.7177 0.98 0.47 T 0.002 B 0.004 B . . 1.000 P 0 N 3.51 T -1.047 T 0.000 T 0.03 0.789 8.157 -1.38 -0.316 -2.503 0.543 0.788731 NA 0.4 0.64593 0.923059 NA 0.71 NA 6.3146034 1029 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 1029 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 1029 19 48621036 48621036 C G exonic LIG1 NA synonymous SNV LIG1:NM_000234:exon26:c.G2442C:p.A814A exonic ENSG00000105486 NA synonymous SNV ENSG00000105486:ENST00000536218:exon24:c.G2238C:p.A746A,ENSG00000105486:ENST00000427526:exon25:c.G2349C:p.A783A,ENSG00000105486:ENST00000263274:exon26:c.G2442C:p.A814A Score=420;Name=lod=68 NA 19q13.33 NA Name=CTCF_(SC-5916),CTCF,Egr-1 NA NA rs13436 0.56 0.56 0.588 0.544529 0.4632 0.748 0.4236 0.5424 0.5072 0.45 0.77 0.48 0.54 0.4747 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 0.324022 NA NA 0.415465 0.545393 NA 0.572 NA 6.3133016 1029 5 141334921 141334921 C T exonic PCDH12 NA synonymous SNV PCDH12:NM_016580:exon1:c.G2496A:p.Q832Q exonic ENSG00000113555 NA synonymous SNV ENSG00000113555:ENST00000231484:exon1:c.G2496A:p.Q832Q Score=446;Name=lod=87 NA 5q31.3 NA NA NA NA rs2434322 0.14 0.14 0.119 0.122604 0.1173 0.2688 0.072 0.0166 0.1564 0.12 0.29 0.1 0.02 0.1234 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223488 NA NA 0.112674 0.043804 NA 0.123 NA 6.3132926 1029 3 150421419 150421419 G A exonic FAM194A NA synonymous SNV FAM194A:NM_152394:exon1:c.C267T:p.D89D exonic ENSG00000163645 NA synonymous SNV ENSG00000163645:ENST00000295910:exon1:c.C267T:p.D89D,ENSG00000163645:ENST00000474463:exon2:c.C189T:p.D63D,ENSG00000163645:ENST00000498386:exon2:c.C147T:p.D49D NA NA 3q25.1 NA Name=c-Myc,ZNF263,Pol2 Name=18 NA rs17281287 0.4 0.4 0.392 0.323083 0.4632 0.3591 0.4597 0.2179 0.1871 0.48 0.37 0.44 0.27 0.4131 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.377776 NA NA 0.477326 0.263731 ID=COSM1180124;OCCURENCE=1(prostate) 0.42 NA 6.3130406 1029 1 33820033 33820033 C T exonic PHC2 NA synonymous SNV PHC2:NM_198040:exon8:c.G1524A:p.T508T exonic ENSG00000134686 NA synonymous SNV ENSG00000134686:ENST00000373422:exon2:c.G342A:p.T114T,ENSG00000134686:ENST00000431992:exon7:c.G1437A:p.T479T,ENSG00000134686:ENST00000257118:exon8:c.G1524A:p.T508T,ENSG00000134686:ENST00000419414:exon9:c.G1527A:p.T509T Score=479;Name=lod=118 NA 1p35.1 NA NA NA NA rs16835408 0.12 0.12 0.12 0.117212 0.1183 0.2927 0.072 0.0083 0.1145 0.12 0.25 0.09 0.01 0.1165 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.321601 1.321601 NA 0.119186 0.02769 NA 0.13 NA 6.3126806 1029 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 1029 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 1029 9 100689693 100689693 A G exonic HEMGN NA synonymous SNV HEMGN:NM_197978:exon4:c.T1428C:p.N476N,HEMGN:NM_018437:exon5:c.T1428C:p.N476N exonic ENSG00000136929 NA synonymous SNV ENSG00000136929:ENST00000259456:exon5:c.T1428C:p.N476N Score=251;Name=lod=14 NA 9q22.33 NA NA NA NA rs1059003 0.08 0.08 0.074 0.0806709 0.1451 0.0089 0.1427 0.0242 0.1207 0.14 0.01 0.12 0.03 0.1051 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197706 NA NA 0.105257 0.038584 NA 0.152 NA 6.3112096 1029 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 1029 2 201253956 201253956 A G UTR5 SPATS2L NM_015535:c.-12A>G,NM_001100422:c.-12A>G,NM_001100424:c.-12A>G,NM_001100423:c.-12A>G NA NA exonic ENSG00000196141 NA nonsynonymous SNV ENSG00000196141:ENST00000409151:exon2:c.A13G:p.T5A,ENSG00000196141:ENST00000409755:exon3:c.A79G:p.T27A Score=524;Name=lod=179 NA 2q33.1 NA NA NA NA rs842823 0.24 0.24 0.268 0.234225 0.3141 0.1468 0.1902 0.1815 0.3446 0.33 0.16 0.2 0.22 0.3886 0.33 0.08 T 0.018 B 0.01 B . . 0.000 P . . . . -0.991 T 0.000 T 0.178 2.002 12.65 -0.499 -0.128 0.095 7.664 2.002068 2.002068 0.04 0.319971 0.186427 ID=COSM149038;OCCURENCE=1(stomach) 0.297 NA 6.3106624 1029 14 94245652 94245652 C T exonic PRIMA1 NA synonymous SNV PRIMA1:NM_178013:exon3:c.G99A:p.T33T exonic ENSG00000175785 NA synonymous SNV ENSG00000175785:ENST00000316227:exon2:c.G99A:p.T33T,ENSG00000175785:ENST00000393143:exon2:c.G99A:p.T33T,ENSG00000175785:ENST00000393140:exon3:c.G99A:p.T33T,ENSG00000175785:ENST00000477603:exon3:c.G99A:p.T33T Score=556;Name=lod=242 NA 14q32.12 Score=944;Name=V$BACH2_01 NA NA NA rs4900195 0.37 0.37 0.324 0.363019 0.4692 0.2302 0.3573 0.3949 0.3517 0.47 0.23 0.41 0.36 0.4102 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.383181 NA NA 0.476622 0.400727 ID=COSM1563038;OCCURENCE=1(large_intestine) 0.312 NA 6.3106446 1029 9 129854199 129854199 G A exonic ANGPTL2 NA synonymous SNV ANGPTL2:NM_012098:exon4:c.C1032T:p.D344D exonic ENSG00000136859 NA synonymous SNV ENSG00000136859:ENST00000373417:exon3:c.C126T:p.D42D,ENSG00000136859:ENST00000373425:exon4:c.C1032T:p.D344D Score=519;Name=lod=171 NA 9q33.3 Score=848;Name=V$CDPCR1_01 NA NA NA rs2297866 0.32 0.32 0.28 0.290535 0.4761 0.2966 0.3429 0.1127 0.2965 0.5 0.27 0.33 0.12 0.4189 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.75772 NA NA 0.461512 0.167499 NA 0.261 NA 6.3101546 1029 6 32337686 32337686 A G exonic C6orf10 NA unknown UNKNOWN exonic ENSG00000204296 NA nonsynonymous SNV ENSG00000204296:ENST00000375007:exon2:c.T88C:p.C30R,ENSG00000204296:ENST00000375015:exon2:c.T88C:p.C30R,ENSG00000204296:ENST00000442822:exon2:c.T88C:p.C30R,ENSG00000204296:ENST00000447241:exon2:c.T88C:p.C30R,ENSG00000204296:ENST00000527965:exon2:c.T88C:p.C30R,ENSG00000204296:ENST00000532023:exon2:c.T88C:p.C30R,ENSG00000204296:ENST00000533191:exon2:c.T88C:p.C30R,ENSG00000204296:ENST00000534588:exon2:c.T88C:p.C30R NA NA 6p21.32 NA Name=c-Fos,CEBPB,JunD,Rad21,p300_(N-15),STAT3,RFX5_(N-494),c-Jun,GATA-2 Name=108 NA rs3129941 0.81 0.81 0.814 0.803315 0.7833 0.872 0.7983 0.6974 0.8998 0.8 0.89 0.8 0.73 0.8125 0.89 1 T 0.0 B 0.0 B . . 1.000 P -1.525 N 3.66 T -0.953 T 0.001 T 0.512 -3.152 0.001 1.78 0.010 0.095 3.478 -3.15157 NA 1 0.761078 0.718398 NA 0.819 NA 6.3097887 1029 1 6204161 6204161 G A exonic CHD5 NA synonymous SNV CHD5:NM_015557:exon12:c.C1857T:p.Y619Y exonic ENSG00000116254 NA synonymous SNV ENSG00000116254:ENST00000262450:exon12:c.C1857T:p.Y619Y,ENSG00000116254:ENST00000496404:exon12:c.C1857T:p.Y619Y Score=591;Name=lod=335 NA 1p36.31 NA NA NA NA rs17436816 0.08 0.08 0.063 0.0826677 0.1203 0.0337 0.2089 0.0151 0.0961 0.11 0.03 0.16 0.03 0.1142 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.548926 NA NA 0.122558 0.032456 NA 0.058 NA 6.3096086 1029 3 195475799 195475799 C T exonic MUC4 NA synonymous SNV MUC4:NM_138297:exon22:c.G3147A:p.Q1049Q,MUC4:NM_004532:exon23:c.G3300A:p.Q1100Q,MUC4:NM_018406:exon24:c.G16008A:p.Q5336Q exonic ENSG00000145113 NA synonymous SNV ENSG00000145113:ENST00000349607:exon22:c.G3147A:p.Q1049Q,ENSG00000145113:ENST00000346145:exon23:c.G3300A:p.Q1100Q,ENSG00000145113:ENST00000475231:exon23:c.G15852A:p.Q5284Q,ENSG00000145113:ENST00000463781:exon24:c.G16008A:p.Q5336Q Score=415;Name=lod=65 NA 3q29 NA NA NA NA rs3205933 0.06 0.06 0.054 0.053115 0.1382 0.001 0.072 0.0151 0.0573 0.13 NA 0.09 0.02 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 1.349428 1.349428 NA 0.127093 0.029051 ID=COSM1566491,COSM1566490,COSM1566492;OCCURENCE=1(large_intestine) 0.167 NA 6.3094736 1029 X 43591036 43591036 G T exonic MAOA NA synonymous SNV MAOA:NM_000240:exon8:c.G891T:p.R297R,MAOA:NM_001270458:exon9:c.G492T:p.R164R exonic ENSG00000189221 NA synonymous SNV ENSG00000189221:ENST00000338702:exon8:c.G891T:p.R297R,ENSG00000189221:ENST00000542639:exon9:c.G492T:p.R164R Score=521;Name=lod=174 NA Xp11.3 NA NA NA NA rs6323 0.67 0.67 0.67568 NA NA NA NA NA NA 0.71 0.4 0.71 0.88 0.6529 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 1.003912 NA NA 0.704518 0.853194 NA 0.536 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078415.3;CLNDSDB=.;CLNDSDBID=. 6.3092486 1029 19 1272040 1272040 T C exonic CIRBP NA synonymous SNV CIRBP:NM_001280:exon6:c.T492C:p.Y164Y exonic ENSG00000099622 NA synonymous SNV ENSG00000099622:ENST00000444172:exon5:c.T333C:p.Y111Y,ENSG00000099622:ENST00000585630:exon5:c.T492C:p.Y164Y,ENSG00000099622:ENST00000586773:exon5:c.T492C:p.Y164Y,ENSG00000099622:ENST00000320936:exon6:c.T492C:p.Y164Y,ENSG00000099622:ENST00000413636:exon6:c.T390C:p.Y130Y,ENSG00000099622:ENST00000585913:exon6:c.T492C:p.Y164Y,ENSG00000099622:ENST00000585914:exon6:c.T492C:p.Y164Y,ENSG00000099622:ENST00000586636:exon6:c.T492C:p.Y164Y,ENSG00000099622:ENST00000587323:exon6:c.T492C:p.Y164Y,ENSG00000099622:ENST00000588030:exon6:c.T492C:p.Y164Y,ENSG00000099622:ENST00000588090:exon6:c.T492C:p.Y164Y,ENSG00000099622:ENST00000589235:exon6:c.T492C:p.Y164Y,ENSG00000099622:ENST00000589660:exon6:c.T492C:p.Y164Y,ENSG00000099622:ENST00000589686:exon6:c.T492C:p.Y164Y,ENSG00000099622:ENST00000589710:exon6:c.T492C:p.Y164Y,ENSG00000099622:ENST00000591935:exon6:c.T492C:p.Y164Y,ENSG00000099622:ENST00000586472:exon7:c.T492C:p.Y164Y,ENSG00000099622:ENST00000587896:exon7:c.T492C:p.Y164Y,ENSG00000099622:ENST00000588230:exon7:c.T492C:p.Y164Y Score=517;Name=lod=169 NA 19p13.3 NA Name=GABP,ETS1,Pol2,E2F6_(H-50) Name=2 NA rs12488 0.82 0.82 0.798 0.800919 0.7952 0.9673 0.8242 0.6815 0.7802 0.8 0.97 0.8 0.69 0.7969 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 0.118311 NA NA 0.766395 0.694507 NA 0.746 NA 6.3081716 1029 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 1029 20 20232356 20232356 C T exonic C20orf26 NA synonymous SNV C20orf26:NM_015585:exon20:c.C2277T:p.D759D exonic ENSG00000089101 NA synonymous SNV ENSG00000089101:ENST00000377293:exon4:c.C345T:p.D115D,ENSG00000089101:ENST00000377308:exon4:c.C345T:p.D115D,ENSG00000089101:ENST00000245957:exon20:c.C2277T:p.D759D,ENSG00000089101:ENST00000377309:exon20:c.C345T:p.D115D,ENSG00000089101:ENST00000389656:exon20:c.C345T:p.D115D NA NA 20p11.23 NA Name=CTCF NA NA rs56102210 0.07 0.07 0.065 0.066893 0.1372 0.0208 0.0663 0.028 0.0951 0.13 0.02 0.06 0.03 0.1008 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.182124 NA NA 0.12093 0.041761 NA 0.138 NA 6.3077366 1029 5 35876630 35876630 A G UTR3 IL7R NM_002185:c.*42A>G NA NA UTR3 ENSG00000168685 ENST00000303115:c.*42A>G,ENST00000343305:c.*539A>G,ENST00000514217:c.*616A>G,ENST00000505093:c.*539A>G NA NA NA NA 5p13.2 NA Name=PU.1 Name=26 NA rs145513117 0.0046 0.0046 0.003 0.00339457 0.0089 0.001 0.0086 NA 0.001 0.01 0.0017 0.01 NA 0.0073 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 0.579853 NA NA 0.009751 0.001367 NA NA NA 6.3073824 1029 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 1029 11 5701001 5701001 C T exonic TRIM5 NA nonsynonymous SNV TRIM5:NM_033034:exon2:c.G407A:p.R136Q,TRIM5:NM_033092:exon2:c.G407A:p.R136Q,TRIM5:NM_033093:exon2:c.G407A:p.R136Q exonic ENSG00000132256 NA nonsynonymous SNV ENSG00000132256:ENST00000433961:exon1:c.G407A:p.R136Q,ENSG00000132256:ENST00000305836:exon2:c.G407A:p.R136Q,ENSG00000132256:ENST00000380034:exon2:c.G407A:p.R136Q,ENSG00000132256:ENST00000396847:exon2:c.G407A:p.R136Q,ENSG00000132256:ENST00000396853:exon2:c.G407A:p.R136Q,ENSG00000132256:ENST00000396855:exon2:c.G407A:p.R136Q,ENSG00000132256:ENST00000412903:exon3:c.G407A:p.R136Q,ENSG00000132256:ENST00000380027:exon5:c.G407A:p.R136Q NA NA 11p15.4 NA NA NA NA rs10838525 0.21 0.21 0.188 0.184904 0.3847 0.0784 0.2349 0.1029 0.1646 0.39 0.05 0.25 0.1 0.2909 0.39 1 T 0.007 B 0.002 B 0.089 N 1.000 P -1.77 N 0.52 T -0.973 T 0.000 T 0.198 -2.062 0.006 0.203 0.015 0.761 4.120 -2.061954 NA 1 0.350477 0.143798 ID=COSM147125;OCCURENCE=1(stomach) 0.217 NA 6.3072564 1030 5 43175103 43175103 C T exonic ZNF131 NA synonymous SNV ZNF131:NM_003432:exon8:c.C1638T:p.S546S exonic ENSG00000172262 NA synonymous SNV ENSG00000172262:ENST00000399534:exon7:c.C1740T:p.S580S,ENSG00000172262:ENST00000509156:exon7:c.C1740T:p.S580S,ENSG00000172262:ENST00000509634:exon7:c.C1638T:p.S546S,ENSG00000172262:ENST00000306938:exon8:c.C1638T:p.S546S,ENSG00000172262:ENST00000505606:exon8:c.C1638T:p.S546S Score=309;Name=lod=24 NA 5p12 NA NA NA NA rs35397154 0.11 0.11 0.102 0.117412 0.1243 0.2113 0.0821 0.0461 0.135 0.11 0.17 0.1 0.02 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 -0.388482 NA NA 0.123829 0.04727 NA 0.072 NA 6.3044376 1030 19 49244219 49244219 C A exonic IZUMO1 NA synonymous SNV IZUMO1:NM_182575:exon10:c.G999T:p.A333A exonic ENSG00000182264 NA synonymous SNV ENSG00000182264:ENST00000332955:exon10:c.G999T:p.A333A NA NA 19q13.33 NA Name=eGFP-JunD Name=21 NA rs2307018 0.44 0.44 0.492 0.513778 0.4473 0.8323 0.5461 0.3162 0.498 0.36 0.72 0.48 0.22 0.4787 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261909 NA NA 0.436512 0.322969 NA NA NA 6.3041546 1030 19 55614923 55614923 T C exonic PPP1R12C NA synonymous SNV PPP1R12C:NM_001271618:exon4:c.A585G:p.E195E,PPP1R12C:NM_017607:exon4:c.A585G:p.E195E exonic ENSG00000125503 NA synonymous SNV ENSG00000125503:ENST00000263433:exon4:c.A585G:p.E195E,ENSG00000125503:ENST00000376393:exon4:c.A585G:p.E195E,ENSG00000125503:ENST00000435544:exon4:c.A363G:p.E121E Score=415;Name=lod=65 NA 19q13.42 Score=834;Name=V$NFY_C NA NA NA rs2532060 0.63 0.63 0.635 0.68151 0.4056 0.754 0.5072 0.9145 0.6994 0.41 0.77 0.51 0.9 0.5331 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.934699 NA NA 0.4239 0.856559 NA 0.63 NA 6.3040666 1030 8 142228149 142228149 G A exonic SLC45A4 NA synonymous SNV SLC45A4:NM_001080431:exon4:c.C1437T:p.T479T exonic ENSG00000022567 NA synonymous SNV ENSG00000022567:ENST00000024061:exon4:c.C1437T:p.T479T,ENSG00000022567:ENST00000433583:exon4:c.C1416T:p.T472T,ENSG00000022567:ENST00000517878:exon4:c.C1590T:p.T530T,ENSG00000022567:ENST00000519067:exon4:c.C1437T:p.T479T Score=641;Name=lod=535 NA 8q24.3 NA NA NA NA rs12679446 0.15 0.15 0.123 0.141773 0.1243 0.2421 0.1009 0.0802 0.1687 0.11 0.27 0.14 0.07 0.1282 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.015125 NA NA 0.110116 0.091239 NA 0.08 NA 6.3040506 1030 6 33141475 33141475 C T intronic COL11A2 NA NA NA intronic ENSG00000204248 NA NA NA Score=550;Name=lod=229 NA 6p21.32 Score=906;Name=V$PAX4_03 Name=EBF NA NA rs970901 0.65 0.65 0.643 0.643171 0.5437 0.7808 0.6499 0.612 0.6411 0.55 0.8 0.64 0.62 0.6007 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 0.760523 NA NA 0.551615 0.599933 NA 0.63 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039830.1;CLNDSDB=.;CLNDSDBID=. 6.303985 1030 5 38942403 38942403 A C UTR3 RICTOR NM_152756:c.*3T>G NA NA UTR3 ENSG00000164327 ENST00000357387:c.*3T>G,ENST00000511516:c.*4240T>G,ENST00000296782:c.*3T>G NA NA Score=492;Name=lod=133 NA 5p13.1 Score=900;Name=V$CREBP1CJUN_01 NA NA NA rs41271097 0.0041 0.0041 NA 0.00279553 0.0109 NA 0.0014 NA 0.002 0.01 NA NA NA 0.0082 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.155542 4.155542 NA 0.010465 0.000681 NA NA NA 6.3037684 1030 21 43161877 43161877 C T exonic RIPK4 NA synonymous SNV RIPK4:NM_020639:exon8:c.G1476A:p.A492A exonic ENSG00000183421 NA synonymous SNV ENSG00000183421:ENST00000332512:exon8:c.G1476A:p.A492A,ENSG00000183421:ENST00000542057:exon8:c.G1287A:p.A429A,ENSG00000183421:ENST00000544709:exon8:c.G1287A:p.A429A,ENSG00000183421:ENST00000352483:exon9:c.G1620A:p.A540A Score=499;Name=lod=142 NA 21q22.3 Score=905;Name=V$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 1030 8 30973957 30973957 G T exonic WRN NA synonymous SNV WRN:NM_000553:exon20:c.G2361T:p.L787L exonic ENSG00000165392 NA synonymous SNV ENSG00000165392:ENST00000298139:exon20:c.G2361T:p.L787L NA NA 8p12 Score=868;Name=V$IRF7_01 NA NA NA rs1800392 0.51 0.51 0.491 0.471246 0.4493 0.624 0.5764 0.4175 0.3344 0.43 0.62 0.6 0.42 0.4466 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286416 NA NA 0.467326 0.410803 NA 0.37 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118876.2;CLNDSDB=.;CLNDSDBID=. 6.3034406 1030 8 119938782 119938782 T C exonic TNFRSF11B NA synonymous SNV TNFRSF11B:NM_002546:exon4:c.A768G:p.L256L exonic ENSG00000164761 NA synonymous SNV ENSG00000164761:ENST00000297350:exon4:c.A768G:p.L256L Score=599;Name=lod=363 NA 8q24.12 NA NA NA NA rs2228568 0.07 0.07 0.07 0.0786741 0.1223 0.0069 0.0663 0.0461 0.1605 0.13 0.0017 0.08 0.05 0.1086 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.236805 1.236805 NA 0.132473 0.057195 NA 0.116 NA 6.3032936 1030 10 133786586 133786586 T C exonic BNIP3 NA synonymous SNV BNIP3:NM_004052:exon3:c.A234G:p.R78R exonic ENSG00000176171 NA synonymous SNV ENSG00000176171:ENST00000368636:exon3:c.A234G:p.R78R,ENSG00000176171:ENST00000540159:exon3:c.A234G:p.R78R Score=251;Name=lod=14 NA 10q26.3 NA NA NA NA rs1050704 0.08 0.08 0.066 0.0722843 0.1233 0.0198 0.1081 0.0726 0.0481 0.11 0.02 0.1 0.08 0.1024 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173803 NA NA 0.137907 0.086019 NA 0.109 NA 6.3030596 1030 10 3202065 3202065 T C exonic PITRM1 NA nonsynonymous SNV PITRM1:NM_001242309:exon8:c.A886G:p.I296V,PITRM1:NM_001242307:exon9:c.A982G:p.I328V,PITRM1:NM_014889:exon9:c.A982G:p.I328V exonic ENSG00000107959 NA nonsynonymous SNV ENSG00000107959:ENST00000451104:exon8:c.A886G:p.I296V,ENSG00000107959:ENST00000224949:exon9:c.A982G:p.I328V,ENSG00000107959:ENST00000380989:exon9:c.A982G:p.I328V NA NA 10p15.2 Score=793;Name=V$CMYB_01 NA NA NA rs4242746 0.64 0.64 0.635 0.620807 0.671 0.6032 0.5591 0.5923 0.6697 0.69 0.62 0.62 0.6 0.6684 0.69 1 T 0.0 B 0.002 B 0.004 N 0.000 P . . 3.3 T -0.980 T 0.000 T 0.032 -1.873 0.008 0.303 -0.060 0.247 8.537 -1.873201 NA 1 0.690909 0.679703 NA 0.71 NA 6.3030244 1030 3 46010007 46010007 T C exonic FYCO1 NA synonymous SNV FYCO1:NM_024513:exon8:c.A819G:p.Q273Q exonic ENSG00000163820 NA synonymous SNV ENSG00000163820:ENST00000535325:exon7:c.A819G:p.Q273Q,ENSG00000163820:ENST00000296137:exon8:c.A819G:p.Q273Q NA NA 3p21.31 NA Name=CTCF NA NA rs13071283 0.06 0.06 0.06 0.110024 0.1243 0.004 0.0634 0.0197 0.3599 0.14 NA 0.06 0.02 0.129 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.001714 NA NA 0.111977 0.031321 NA 0.058 NA 6.3013896 1030 3 197712759 197712759 T C exonic LMLN NA synonymous SNV LMLN:NM_001136049:exon8:c.T927C:p.Y309Y,LMLN:NM_033029:exon8:c.T927C:p.Y309Y exonic ENSG00000185621 NA synonymous SNV ENSG00000185621:ENST00000330198:exon8:c.T927C:p.Y309Y,ENSG00000185621:ENST00000332636:exon8:c.T771C:p.Y257Y,ENSG00000185621:ENST00000420910:exon8:c.T927C:p.Y309Y,ENSG00000185621:ENST00000482695:exon8:c.T771C:p.Y257Y Score=598;Name=lod=358 NA 3q29 NA NA NA NA rs7373242 0.17 0.17 0.202 0.210064 0.1173 0.0109 0.1023 0.5204 0.1677 0.11 0.01 0.1 0.49 0.1383 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.78711 NA NA 0.110116 0.452565 NA 0.196 NA 6.3009506 1030 3 126726705 126726705 A G exonic PLXNA1 NA synonymous SNV PLXNA1:NM_032242:exon8:c.A2061G:p.T687T exonic ENSG00000114554 NA synonymous SNV ENSG00000114554:ENST00000251772:exon8:c.A1992G:p.T664T,ENSG00000114554:ENST00000393409:exon8:c.A2061G:p.T687T Score=607;Name=lod=391 NA 3q21.3 NA NA NA NA rs9876615 0.12 0.12 0.108 0.153554 0.1312 0.2044 0.0605 0.1036 0.2577 0.13 0.16 0.06 0.11 0.1231 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.26045 NA NA 0.111628 0.09941 ID=COSM445517;OCCURENCE=1(breast) 0.109 NA 6.3007386 1030 17 29113016 29113016 A G exonic CRLF3 NA synonymous SNV CRLF3:NM_015986:exon7:c.T993C:p.D331D exonic ENSG00000176390 NA synonymous SNV ENSG00000176390:ENST00000544695:exon6:c.T645C:p.D215D,ENSG00000176390:ENST00000324238:exon7:c.T993C:p.D331D Score=548;Name=lod=224 NA 17q11.2 NA NA NA NA rs34756112 0.14 0.14 0.142 0.161741 0.1074 0.1359 0.1902 0.1354 0.2597 0.1 0.16 0.19 0.15 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 0.754241 NA NA 0.115581 0.139355 NA 0.152 NA 6.3006856 1030 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 1030 2 72958333 72958333 T C exonic EXOC6B NA synonymous SNV EXOC6B:NM_015189:exon4:c.A369G:p.Q123Q exonic ENSG00000144036 NA synonymous SNV ENSG00000144036:ENST00000272427:exon4:c.A369G:p.Q123Q,ENSG00000144036:ENST00000410104:exon4:c.A369G:p.Q123Q Score=642;Name=lod=541 NA 2p13.2 NA NA NA NA rs61736520 0.19 0.19 0.207 0.20008 0.1213 0.001 0.0994 0.5968 0.0215 0.12 0.0035 0.11 0.58 0.1307 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.016187 NA NA 0.114439 0.470429 NA 0.225 NA 6.3002276 1030 12 40688695 40688695 T C exonic LRRK2 NA synonymous SNV LRRK2:NM_198578:exon22:c.T2857C:p.L953L exonic ENSG00000188906 NA synonymous SNV ENSG00000188906:ENST00000298910:exon22:c.T2857C:p.L953L,ENSG00000188906:ENST00000343742:exon22:c.T2857C:p.L953L NA NA 12q12 NA NA NA NA rs7966550 0.1 0.1 0.086 0.0900559 0.1292 0.1458 0.1282 0.0159 0.0654 0.11 0.15 0.1 0.01 0.106 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.36281 NA NA 0.131536 0.023604 ID=COSM147474,COSM147475;OCCURENCE=1(stomach) 0.043 CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=single;CLNACC=RCV000032430.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 6.2999306 1030 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 1030 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 1030 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 1030 11 8942942 8942942 C T exonic C11orf16 NA nonsynonymous SNV C11orf16:NM_020643:exon6:c.G1325A:p.R442Q exonic ENSG00000176029 NA nonsynonymous SNV ENSG00000176029:ENST00000326053:exon6:c.G1325A:p.R442Q NA NA 11p15.4 NA NA NA NA rs2653601 0.25 0.25 0.232 0.26897 0.3539 0.2232 0.2507 0.1059 0.4622 0.36 0.17 0.31 0.14 0.3263 0.36 1 T 0.0 B 0.0 B 0.592 N 1.000 P -0.55 N 1.56 T -0.951 T 0.000 T 0.006 -0.89 0.46 -0.874 -0.182 -0.178 4.093 -0.889593 NA 1 0.354865 0.133348 ID=COSM147139;OCCURENCE=1(stomach) 0.246 NA 6.2982684 1030 12 53070145 53070145 G A exonic KRT1 NA synonymous SNV KRT1:NM_006121:exon7:c.C1389T:p.R463R exonic ENSG00000167768 NA synonymous SNV ENSG00000167768:ENST00000252244:exon7:c.C1389T:p.R463R NA NA 12q13.13 Score=787;Name=V$AHRARNT_02 NA NA NA rs936958 0.39 0.39 0.396 0.425519 0.4523 0.2411 0.4424 0.4939 0.4836 0.46 0.22 0.41 0.5 0.4434 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.066744 NA NA 0.472907 0.464594 NA 0.384 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000057057.1;CLNDSDB=.;CLNDSDBID=. 6.2980596 1030 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 1030 21 28216066 28216066 C T intronic ADAMTS1 NA NA NA exonic ENSG00000154734 NA stopgain ENSG00000154734:ENST00000517452:exon1:c.G11A:p.W4X NA NA 21q21.3 NA Name=TBP,CTCF,Pol2,Pol2(phosphoS2),Pol2-4H8,TAF1 Name=93 NA rs370850 0.66 0.66 0.71 0.688099 0.7376 0.4464 0.4899 0.9297 0.7004 0.74 0.43 0.51 0.92 0.7079 0.92 0.19 T . . . . . . 1.000 P . . . . . . . . . 2.623 14.73 -0.109 -0.301 -0.499 1.508 2.623136 2.623136 NA 0.757056 0.888444 NA 0.63 NA 6.297444 1030 4 76720885 76720885 T C exonic USO1 NA unknown UNKNOWN exonic ENSG00000138768 NA synonymous SNV ENSG00000138768:ENST00000514213:exon14:c.T1518C:p.F506F,ENSG00000138768:ENST00000538159:exon15:c.T1590C:p.F530F Score=569;Name=lod=274 NA 4q21.1 NA NA NA NA rs13119659 0.75 0.75 0.721 0.752796 0.6541 0.8988 0.7637 0.6974 0.771 0.66 0.92 0.77 0.68 0.716 0.92 0.56 T . . . . 0.000 D 0.000 P . . -0.09 T -0.997 T 0.000 T . 1.662 11.52 1.34 -0.226 0.553 11.344 1.662401 1.662401 NA 0.665854 0.69431 NA 0.725 NA 6.2973793 1030 2 237103623 237103623 A G exonic ASB18 NA synonymous SNV ASB18:NM_212556:exon6:c.T1293C:p.A431A exonic ENSG00000182177 NA synonymous SNV ENSG00000182177:ENST00000330842:exon5:c.T1206C:p.A402A,ENSG00000182177:ENST00000409749:exon6:c.T1293C:p.A431A Score=423;Name=lod=70 NA 2q37.2 NA NA NA NA rs10166966 0.1 0.1 0.087 0.11262 0.1352 0.002 0.0735 0.1891 0.1278 0.14 NA 0.09 0.15 0.1217 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.683872 NA NA 0.113663 0.177283 NA 0.138 NA 6.2961036 1030 3 11887991 11887991 C G exonic TAMM41 NA synonymous SNV TAMM41:NM_138807:exon1:c.G120C:p.P40P exonic ENSG00000144559 NA synonymous SNV ENSG00000144559:ENST00000273037:exon1:c.G120C:p.P40P,ENSG00000144559:ENST00000411947:exon1:c.G120C:p.P40P,ENSG00000144559:ENST00000417723:exon1:c.G120C:p.P40P,ENSG00000144559:ENST00000444133:exon1:c.G120C:p.P40P,ENSG00000144559:ENST00000455809:exon1:c.G120C:p.P40P,ENSG00000144559:ENST00000457498:exon1:c.G120C:p.P40P Score=594;Name=lod=347 NA 3p25.2 NA NA Name=54 NA rs408600 0.41 0.41 0.398 0.434305 0.4702 0.2589 0.4135 0.5303 0.4632 0.45 0.27 0.42 0.5 0.4415 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.649328 NA NA 0.459535 0.511121 NA 0.413 NA 6.2954316 1030 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 1031 4 39515736 39515736 A G exonic UGDH NA synonymous SNV UGDH:NM_001184700:exon3:c.T231C:p.D77D,UGDH:NM_003359:exon3:c.T231C:p.D77D exonic ENSG00000109814 NA synonymous SNV ENSG00000109814:ENST00000316423:exon3:c.T231C:p.D77D,ENSG00000109814:ENST00000501493:exon3:c.T231C:p.D77D,ENSG00000109814:ENST00000505698:exon3:c.T231C:p.D77D,ENSG00000109814:ENST00000506179:exon3:c.T231C:p.D77D,ENSG00000109814:ENST00000509391:exon3:c.T231C:p.D77D,ENSG00000109814:ENST00000514106:exon3:c.T231C:p.D77D,ENSG00000109814:ENST00000515021:exon4:c.T270C:p.D90D Score=585;Name=lod=317 NA 4p14 NA NA NA NA rs10019532 0.26 0.26 0.297 0.285543 0.1044 0.4067 0.1599 0.4826 0.1697 0.11 0.37 0.15 0.47 0.1689 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212971 NA NA 0.098649 0.429318 NA 0.261 NA 6.2947176 1031 4 164466824 164466824 C T exonic MARCH1 NA synonymous SNV MARCH1:NM_017923:exon3:c.G444A:p.A148A,MARCH1:NM_001166373:exon7:c.G495A:p.A165A exonic ENSG00000145416 NA synonymous SNV ENSG00000145416:ENST00000339875:exon3:c.G444A:p.A148A,ENSG00000145416:ENST00000274056:exon5:c.G495A:p.A165A,ENSG00000145416:ENST00000503008:exon7:c.G495A:p.A165A,ENSG00000145416:ENST00000514618:exon9:c.G1263A:p.A421A Score=469;Name=lod=107 NA 4q32.2 Score=905;Name=V$AREB6_01 NA NA NA rs13130399 0.41 0.41 0.359 0.385982 0.4583 0.3482 0.6037 0.2776 0.3425 0.46 0.34 0.59 0.25 0.4437 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.512938 1.512938 NA 0.47 0.281888 ID=COSM149754;OCCURENCE=1(stomach),1(prostate) 0.384 NA 6.2946666 1031 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=SETDB1,KAP1,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 1031 14 21945058 21945058 C G UTR5 RAB2B NM_032846:c.-27G>C NA NA UTR5 ENSG00000129472 ENST00000397762:c.-27G>C,ENST00000417141:c.-27G>C NA NA Score=415;Name=lod=65 NA 14q11.2 NA Name=HEY1,Pol2-4H8,ZEB1_(SC-25388),GATA-2,Pol2 NA NA rs185616664 0.01 0.01 NA 0.00599042 0.0149 NA 0.0101 0.0053 0.001 0.01 NA 0.01 0.0041 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 -0.374 NA NA 0.01407 0.002951 NA NA NA 6.2944634 1031 16 70726795 70726795 C A exonic VAC14 NA synonymous SNV VAC14:NM_018052:exon18:c.G2115T:p.P705P exonic ENSG00000103043 NA synonymous SNV ENSG00000103043:ENST00000536184:exon5:c.G411T:p.P137P,ENSG00000103043:ENST00000261776:exon18:c.G2115T:p.P705P Score=652;Name=lod=595 NA 16q22.1 NA NA Name=3 NA rs2278983 0.28 0.28 0.266 0.242812 0.4901 0.1657 0.3401 0.028 0.2894 0.51 0.16 0.35 0.04 0.4147 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.384453 1.384453 NA 0.467907 0.093807 NA 0.203 NA 6.2939596 1031 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 1031 9 117124731 117124731 G A exonic AKNA NA nonsynonymous SNV AKNA:NM_030767:exon8:c.C1871T:p.P624L exonic ENSG00000106948 NA nonsynonymous SNV ENSG00000106948:ENST00000374075:exon6:c.C1628T:p.P543L,ENSG00000106948:ENST00000223791:exon7:c.C251T:p.P84L,ENSG00000106948:ENST00000307564:exon8:c.C1871T:p.P624L,ENSG00000106948:ENST00000312033:exon8:c.C1871T:p.P624L,ENSG00000106948:ENST00000374088:exon8:c.C1871T:p.P624L NA NA 9q32 NA NA NA NA rs3748176 0.38 0.38 0.38 0.384185 0.506 0.3869 0.4798 0.115 0.5521 0.5 0.38 0.49 0.11 0.5021 0.53 0.79 T 0.618 P 0.138 B 0.443 N 1.000 P 1.245 L 1.47 T -0.930 T 0.000 T 0.096 1.267 10.14 -0.371 -0.219 0.347 4.467 1.267287 1.267287 0.18 0.531395 0.187926 ID=COSM150685;OCCURENCE=1(stomach) 0.493 NA 6.2938384 1031 1 44395786 44395786 C T intronic ST3GAL3 NA NA NA exonic ENSG00000126091 NA unknown UNKNOWN NA NA 1p34.1 NA NA NA NA rs2108202 0.56 0.56 0.501 0.51877 0.7594 0.6071 0.6311 0.143 0.6084 0.76 0.56 0.67 0.16 0.6684 0.78 . . . . . . . . 1.000 P . . . . -1.018 T 0.000 T . 0.616 7.317 2.47 1.251 1.211 4.325 0.616148 NA NA 0.778488 0.239446 NA 0.529 NA 6.293712 1031 19 33096816 33096816 C T exonic ANKRD27 NA synonymous SNV ANKRD27:NM_032139:exon24:c.G2418A:p.K806K exonic ENSG00000105186 NA synonymous SNV ENSG00000105186:ENST00000306065:exon24:c.G2418A:p.K806K Score=451;Name=lod=91 NA 19q13.11 NA NA NA NA rs7248273 0.18 0.18 0.171 0.18151 0.1113 0.2262 0.1297 0.2572 0.1421 0.1 0.23 0.14 0.27 0.1432 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.711808 NA NA 0.119302 0.222424 ID=COSM84514;OCCURENCE=1(pancreas) 0.167 NA 6.2928646 1031 11 113270015 113270015 G C exonic ANKK1 NA nonsynonymous SNV ANKK1:NM_178510:exon8:c.G1324C:p.G442R exonic ENSG00000170209 NA nonsynonymous SNV ENSG00000170209:ENST00000303941:exon8:c.G1324C:p.G442R NA NA 11q23.2 Score=846;Name=V$GATA1_03 NA NA NA rs4938016 0.55 0.55 0.543 0.549321 0.6829 0.4663 0.6066 0.4259 0.6237 0.67 0.45 0.62 0.43 0.6625 0.7 0.66 T 0.0 B 0.0 B 0.003 N 1.000 P -0.105 N 2.4 T -1.003 T 0.000 T 0.07 -1.107 0.137 1.82 -0.013 -0.708 2.025 -1.106843 NA 0.96 0.695447 0.484543 ID=COSM428436;OCCURENCE=1(breast) 0.486 NA 6.2924864 1031 9 35606884 35606884 G A exonic TESK1 NA synonymous SNV TESK1:NM_006285:exon4:c.G441A:p.L147L exonic ENSG00000107140 NA synonymous SNV ENSG00000107140:ENST00000336395:exon4:c.G441A:p.L147L Score=401;Name=lod=57 NA 9p13.3 Score=815;Name=V$COMP1_01 NA NA NA rs2275422 0.43 0.43 0.431 0.463059 0.4652 0.3849 0.4856 0.534 0.4294 0.45 0.38 0.44 0.46 0.4635 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.569348 NA NA 0.446047 0.483659 NA 0.319 NA 6.2919196 1031 16 68387457 68387457 C T exonic PRMT7 NA synonymous SNV PRMT7:NM_001184824:exon14:c.C1488T:p.D496D,PRMT7:NM_019023:exon16:c.C1638T:p.D546D exonic ENSG00000132600 NA synonymous SNV ENSG00000132600:ENST00000348497:exon11:c.C1194T:p.D398D,ENSG00000132600:ENST00000449359:exon14:c.C1488T:p.D496D,ENSG00000132600:ENST00000441236:exon15:c.C1488T:p.D496D,ENSG00000132600:ENST00000339507:exon16:c.C1638T:p.D546D Score=493;Name=lod=134 NA 16q22.1 NA NA NA NA rs61746794 0.12 0.12 0.12 0.133586 0.1292 0.0823 0.0893 0.1831 0.1554 0.13 0.09 0.1 0.14 0.1273 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124447 NA NA 0.118837 0.17152 NA 0.138 NA 6.2913296 1031 15 33916053 33916053 G C exonic RYR3 NA synonymous SNV RYR3:NM_001036:exon20:c.G2403C:p.L801L,RYR3:NM_001243996:exon20:c.G2403C:p.L801L exonic ENSG00000198838 NA synonymous SNV ENSG00000198838:ENST00000389232:exon20:c.G2403C:p.L801L,ENSG00000198838:ENST00000415757:exon20:c.G2403C:p.L801L Score=592;Name=lod=338 NA 15q14 NA NA NA NA rs2229117 0.1 0.1 0.082 0.0826677 0.1332 0.0367 0.1758 0.031 0.0818 0.14 0.05 0.17 0.03 0.1168 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.925999 NA NA 0.126696 0.044427 NA 0.065 NA 6.2899706 1031 6 30080496 30080496 G A exonic TRIM31 NA synonymous SNV TRIM31:NM_007028:exon2:c.C87T:p.I29I exonic ENSG00000204616 NA synonymous SNV ENSG00000204616:ENST00000376734:exon2:c.C87T:p.I29I,ENSG00000204616:ENST00000540829:exon2:c.C87T:p.I29I NA NA 6p22.1 NA Name=PU.1 NA NA rs2844793 0.1 0.1 0.094 0.0760783 0.1213 0.0486 0.1182 0.0567 0.0542 0.12 0.07 0.14 0.07 0.1152 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.163276 NA NA 0.140273 0.066225 NA 0.123 NA 6.2898936 1031 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 1031 6 97247566 97247566 T A exonic GPR63 NA synonymous SNV GPR63:NM_030784:exon2:c.A42T:p.T14T,GPR63:NM_001143957:exon3:c.A42T:p.T14T exonic ENSG00000112218 NA synonymous SNV ENSG00000112218:ENST00000229955:exon2:c.A42T:p.T14T,ENSG00000112218:ENST00000417980:exon3:c.A42T:p.T14T Score=278;Name=lod=18 NA 6q16.1 NA NA NA NA rs392127 0.07 0.07 0.061 0.0696885 0.1352 0.002 0.0893 0.031 0.1104 0.13 NA 0.1 0.02 0.1068 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.371156 NA NA 0.135 0.052882 NA 0.029 NA 6.2896666 1031 8 72981318 72981318 G A exonic TRPA1 NA synonymous SNV TRPA1:NM_007332:exon3:c.C384T:p.N128N exonic ENSG00000104321 NA synonymous SNV ENSG00000104321:ENST00000262209:exon3:c.C384T:p.N128N Score=265;Name=lod=16 NA 8q13.3 NA NA NA NA rs28546865 0.21 0.21 0.206 0.199481 0.1252 0.2847 0.0793 0.295 0.1442 0.13 0.29 0.1 0.32 0.1431 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525224 NA NA 0.108837 0.277803 NA 0.181 NA 6.2895296 1031 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 1031 20 61869826 61869826 C T exonic BIRC7 NA synonymous SNV BIRC7:NM_022161:exon3:c.C528T:p.S176S,BIRC7:NM_139317:exon3:c.C528T:p.S176S exonic ENSG00000101197 NA synonymous SNV ENSG00000101197:ENST00000395306:exon1:c.C267T:p.S89S,ENSG00000101197:ENST00000217169:exon3:c.C528T:p.S176S,ENSG00000101197:ENST00000342412:exon3:c.C528T:p.S176S Score=363;Name=lod=40 NA 20q13.33 NA Name=ELF1_(SC-631) NA NA rs2273487 0.47 0.47 0.437 0.444888 0.4404 0.4931 0.4798 0.3638 0.4847 0.46 0.52 0.5 0.39 0.4741 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634327 NA NA 0.463023 0.378292 NA 0.413 NA 6.2891436 1031 17 43319770 43319770 C T exonic FMNL1 NA synonymous SNV FMNL1:NM_005892:exon16:c.C1948T:p.L650L exonic ENSG00000184922 NA synonymous SNV ENSG00000184922:ENST00000587489:exon4:c.C682T:p.L228L,ENSG00000184922:ENST00000328118:exon16:c.C1948T:p.L650L,ENSG00000184922:ENST00000331495:exon16:c.C1948T:p.L650L Score=503;Name=lod=148 NA 17q21.31 Score=980;Name=V$PAX2_02 NA NA NA rs1801353 0.33 0.33 0.315 0.321086 0.4483 0.2837 0.4265 0.1036 0.4479 0.46 0.29 0.4 0.11 0.429 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.122876 NA NA 0.500581 0.160236 NA 0.391 NA 6.2887856 1031 17 61564052 61564052 A G exonic ACE NA synonymous SNV ACE:NM_001178057:exon3:c.A471G:p.A157A,ACE:NM_152830:exon3:c.A471G:p.A157A,ACE:NM_000789:exon14:c.A2193G:p.A731A exonic ENSG00000159640,ENSG00000264813 NA synonymous SNV ENSG00000159640:ENST00000290863:exon3:c.A471G:p.A157A,ENSG00000159640:ENST00000413513:exon3:c.A471G:p.A157A,ENSG00000159640:ENST00000421982:exon3:c.A123G:p.A41A,ENSG00000159640:ENST00000490216:exon3:c.A471G:p.A157A,ENSG00000264813:ENST00000577647:exon3:c.A471G:p.A157A,ENSG00000159640:ENST00000579314:exon3:c.A471G:p.A157A,ENSG00000159640:ENST00000290866:exon14:c.A2193G:p.A731A,ENSG00000159640:ENST00000428043:exon14:c.A2193G:p.A731A Score=352;Name=lod=36 NA 17q23.3 Score=740;Name=V$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 1031 1 32280610 32280610 T C exonic SPOCD1 NA nonsynonymous SNV SPOCD1:NM_144569:exon2:c.A325G:p.T109A exonic ENSG00000134668 NA nonsynonymous SNV ENSG00000134668:ENST00000533231:exon1:c.A325G:p.T109A,ENSG00000134668:ENST00000360482:exon2:c.A325G:p.T109A,ENSG00000134668:ENST00000373648:exon2:c.A325G:p.T109A NA NA 1p35.2 NA NA NA NA rs6664445 0.68 0.68 0.667 0.6875 0.673 0.7212 0.6671 0.6399 0.7464 0.67 0.7 0.63 0.68 0.6822 0.7 1 T 0.0 B 0.0 B . . 1.000 P 0 N 2.2 T -0.938 T 0.000 T 0.018 -1.48 0.018 2.32 0.388 0.365 4.638 -1.480039 NA 1 0.689535 0.637086 NA 0.688 NA 6.2885984 1031 11 57982229 57982229 A G exonic OR1S1 NA nonsynonymous SNV OR1S1:NM_001004458:exon1:c.A13G:p.S5G exonic ENSG00000172774 NA nonsynonymous SNV ENSG00000172774:ENST00000309433:exon1:c.A13G:p.S5G NA NA 11q12.1 NA NA NA NA rs1966836 0.65 0.65 0.63 0.664936 0.662 0.8681 0.7622 0.3759 0.7802 0.66 0.84 0.72 0.37 0.7001 0.84 0.33 T 0.016 B 0.008 B 0.903 N 1.000 P 0 N 0.69 T -0.993 T 0.000 T 0.03 -0.109 3.465 -0.787 -0.695 -1.762 0.576 -0.109212 NA 0.34 0.68331 0.417992 NA 0.616 NA 6.2879234 1031 10 82033594 82033594 G A exonic MAT1A NA synonymous SNV MAT1A:NM_000429:exon9:c.C1131T:p.Y377Y exonic ENSG00000151224 NA synonymous SNV ENSG00000151224:ENST00000372213:exon9:c.C1131T:p.Y377Y Score=410;Name=lod=62 NA 10q23.1 Score=881;Name=V$YY1_01 NA NA NA rs2993763 0.54 0.54 0.565 0.586861 0.4245 0.4861 0.5187 0.7874 0.635 0.42 0.47 0.56 0.77 0.5124 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20527 NA NA 0.443023 0.723105 NA 0.601 NA 6.2867436 1031 9 101304348 101304348 C T intronic GABBR2 NA NA NA intronic ENSG00000136928 NA NA NA NA NA 9q22.33 NA Name=TAL1_(SC-12984) Name=6 NA rs2184026 0.29 0.29 0.277 0.246406 0.2525 0.4921 0.2954 0.0469 0.2219 0.25 0.55 0.31 0.05 0.2483 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168895 NA NA 0.212907 0.063096 NA 0.268 CLINSIG=other;CLNDBN=Tobacco_addiction\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000003495.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1861063:188890 6.286293 1031 7 20691219 20691219 G A exonic ABCB5 NA synonymous SNV ABCB5:NM_001163942:exon4:c.G174A:p.A58A,ABCB5:NM_001163993:exon4:c.G174A:p.A58A,ABCB5:NM_178559:exon4:c.G174A:p.A58A,ABCB5:NM_001163941:exon13:c.G1509A:p.A503A exonic ENSG00000004846 NA synonymous SNV ENSG00000004846:ENST00000258738:exon4:c.G174A:p.A58A,ENSG00000004846:ENST00000406935:exon4:c.G174A:p.A58A,ENSG00000004846:ENST00000443026:exon4:c.G174A:p.A58A,ENSG00000004846:ENST00000404938:exon13:c.G1509A:p.A503A Score=509;Name=lod=156 NA 7p21.1 NA NA NA NA rs61227829 0.06 0.06 0.056 0.0507188 0.1441 NA 0.062 0.028 0.0297 0.14 NA 0.06 0.02 0.1042 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.255245 1.255245 NA 0.132209 0.04335 NA 0.014 NA 6.2861576 1031 17 45994044 45994044 C T exonic SP2 NA synonymous SNV SP2:NM_003110:exon3:c.C607T:p.L203L exonic ENSG00000167182 NA synonymous SNV ENSG00000167182:ENST00000376741:exon3:c.C607T:p.L203L Score=520;Name=lod=173 NA 17q21.32 Score=910;Name=V$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 1031 18 56648756 56648756 C T exonic ZNF532 NA synonymous SNV ZNF532:NM_018181:exon10:c.C3318T:p.H1106H exonic ENSG00000074657 NA synonymous SNV ENSG00000074657:ENST00000586997:exon3:c.C279T:p.H93H,ENSG00000074657:ENST00000589288:exon9:c.C3318T:p.H1106H,ENSG00000074657:ENST00000591083:exon9:c.C3318T:p.H1106H,ENSG00000074657:ENST00000591808:exon9:c.C3318T:p.H1106H,ENSG00000074657:ENST00000336078:exon10:c.C3318T:p.H1106H,ENSG00000074657:ENST00000591230:exon10:c.C3318T:p.H1106H Score=577;Name=lod=296 NA 18q21.32 NA NA NA NA rs61733373 0.06 0.06 0.06 0.0646965 0.1252 0.0188 0.0519 0.0061 0.138 0.14 0.01 0.05 0.02 0.1218 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.235983 1.235983 NA 0.13407 0.023831 NA 0.036 NA 6.2855966 1031 7 20683204 20683204 G T exonic ABCB5 NA synonymous SNV ABCB5:NM_001163941:exon7:c.G627T:p.V209V exonic ENSG00000004846 NA synonymous SNV ENSG00000004846:ENST00000404938:exon7:c.G627T:p.V209V Score=389;Name=lod=51 NA 7p21.1 NA NA NA NA rs7349983 0.06 0.06 0.056 0.0449281 0.1441 NA 0.0576 0.0083 0.0297 0.14 NA 0.06 0.01 0.1034 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.956399 NA NA 0.133585 0.02838 NA 0.014 NA 6.2855816 1031 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 1032 17 56235104 56235104 C A ncRNA_exonic MSX2P1 NA NA NA ncRNA_exonic ENSG00000229590 NA NA NA Score=702;Name=lod=947 NA 17q22 NA Name=CTCF,YY1_(C-20) NA NA rs3863503 0.44 0.44 0.404 0.427516 0.3817 0.7351 0.4928 0.1256 0.5194 0.39 0.75 0.49 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 -0.137759 NA NA NA NA NA 0.377 NA 6.2849666 1032 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$NFKAPPAB_01 NA Name=5 NA rs2074754 0.37 0.37 0.344 0.347644 0.4682 0.4395 0.4784 0.0431 0.4479 0.48 0.47 0.46 0.03 0.4452 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.373083 NA NA 0.469186 0.123014 NA 0.304 NA 6.2840806 1032 11 129801043 129801043 C T exonic PRDM10 NA synonymous SNV PRDM10:NM_199438:exon7:c.G1140A:p.Q380Q,PRDM10:NM_199439:exon7:c.G1140A:p.Q380Q,PRDM10:NM_020228:exon11:c.G1398A:p.Q466Q,PRDM10:NM_199437:exon11:c.G1398A:p.Q466Q exonic ENSG00000170325 NA synonymous SNV ENSG00000170325:ENST00000533431:exon5:c.G549A:p.Q183Q,ENSG00000170325:ENST00000304538:exon7:c.G1140A:p.Q380Q,ENSG00000170325:ENST00000423662:exon7:c.G1140A:p.Q380Q,ENSG00000170325:ENST00000526082:exon7:c.G1140A:p.Q380Q,ENSG00000170325:ENST00000358825:exon11:c.G1398A:p.Q466Q,ENSG00000170325:ENST00000360871:exon11:c.G1398A:p.Q466Q,ENSG00000170325:ENST00000528746:exon11:c.G1320A:p.Q440Q Score=329;Name=lod=29 NA 11q24.3 Score=956;Name=V$NFAT_Q6 NA NA NA rs2277033 0.63 0.63 0.634 0.641973 0.4294 0.7758 0.513 0.8691 0.5072 0.43 0.79 0.51 0.83 0.519 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 -0.883298 NA NA 0.434256 0.813948 NA 0.623 NA 6.2840106 1032 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 1032 11 55595081 55595081 C T exonic OR5L2 NA synonymous SNV OR5L2:NM_001004739:exon1:c.C387T:p.P129P exonic ENSG00000205030 NA synonymous SNV ENSG00000205030:ENST00000378397:exon1:c.C387T:p.P129P NA NA 11q11 Score=803;Name=V$BRN2_01 NA NA NA rs7102394 0.12 0.12 0.11 0.110423 0.1302 0.001 0.0865 0.2625 0.0143 0.13 NA 0.09 0.27 0.114 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021696 NA NA 0.138734 0.254773 NA 0.08 NA 6.2837326 1032 2 152573981 152573981 A G exonic NEB NA synonymous SNV NEB:NM_001164507:exon10:c.T771C:p.A257A,NEB:NM_001164508:exon10:c.T771C:p.A257A,NEB:NM_001271208:exon10:c.T771C:p.A257A,NEB:NM_004543:exon10:c.T771C:p.A257A exonic ENSG00000183091 NA synonymous SNV ENSG00000183091:ENST00000603639:exon8:c.T771C:p.A257A,ENSG00000183091:ENST00000604864:exon8:c.T771C:p.A257A,ENSG00000183091:ENST00000172853:exon10:c.T771C:p.A257A,ENSG00000183091:ENST00000397345:exon10:c.T771C:p.A257A,ENSG00000183091:ENST00000409198:exon10:c.T771C:p.A257A,ENSG00000183091:ENST00000427231:exon10:c.T771C:p.A257A Score=576;Name=lod=292 NA 2q23.3 NA NA Name=2 NA rs4611637 0.61 0.61 0.539 0.569289 0.8121 0.4702 0.8473 0.27 0.6288 0.82 0.46 0.81 0.3 0.7438 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 1.291356 1.291356 NA 0.827054 0.377198 NA 0.688 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081142.3;CLNDSDB=.;CLNDSDBID=. 6.2837126 1032 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 1032 12 6562753 6562753 A G exonic TAPBPL NA nonsynonymous SNV TAPBPL:NM_018009:exon3:c.A436G:p.M146V exonic ENSG00000139192 NA nonsynonymous SNV ENSG00000139192:ENST00000544021:exon2:c.A205G:p.M69V,ENSG00000139192:ENST00000266556:exon3:c.A436G:p.M146V NA NA 12p13.31 NA NA NA NA rs2532501 0.67 0.67 0.637 0.6877 0.675 0.7887 0.5591 0.6225 0.7761 0.68 0.8 0.59 0.59 0.6832 0.8 1 T 0.0 B 0.0 B 0.180 N 1.000 P -0.895 N 3.28 T -1.003 T 0.000 T 0.009 -2.123 0.005 -4.16 -0.859 -0.360 3.208 -2.123095 NA 1 0.692326 0.586473 NA 0.594 NA 6.2828074 1032 X 69250308 69250308 C T intronic EDA NA NA NA intronic ENSG00000158813 NA NA NA NA NA Xq13.1 NA Name=ZNF263 Name=123 NA rs2296765 0.23 0.23 0.22337 NA NA NA NA NA NA 0.38 0.09 0.29 0.14 0.3442 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.574702 NA NA 0.373272 0.19322 NA 0.217 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037185.1;CLNDSDB=.;CLNDSDBID=. 6.282528 1032 1 156563375 156563375 G A intronic APOA1BP NA NA NA exonic ENSG00000163382 NA nonsynonymous SNV ENSG00000163382:ENST00000368233:exon5:c.G692A:p.G231E NA NA 1q23.1 NA Name=Pol2 NA NA rs6427321 0.94 0.94 0.938 0.928514 0.9592 0.9722 0.9568 0.8638 0.9192 0.96 0.97 0.96 0.88 0.9552 0.97 . . 0.994 D 0.941 D . . 1.000 P . . 1.47 T -1.084 T 0.066 T 0.093 2.504 14.33 -1.79 -0.195 0.672 4.729 2.504334 2.504334 0.35 0.969767 0.857694 NA 0.87 NA 6.2824997 1032 3 14724413 14724413 G A exonic C3orf20 NA nonsynonymous SNV C3orf20:NM_032137:exon3:c.G193A:p.D65N exonic ENSG00000131379 NA nonsynonymous SNV ENSG00000131379:ENST00000253697:exon3:c.G193A:p.D65N NA NA 3p25.1 NA NA NA NA rs9821143 0.34 0.34 0.329 0.297724 0.3658 0.2252 0.4438 0.2806 0.2219 0.37 0.24 0.43 0.32 0.3384 0.43 0.19 T 0.385 B 0.034 B 0.771 N 1.000 P 0.895 L 3.3 T -0.929 T 0.000 T 0.015 1.119 9.562 0.576 0.166 -0.301 1.484 1.118756 NA 0.02 0.347674 0.308443 NA 0.196 NA 6.2814594 1032 19 47770015 47770015 A C exonic CCDC9 NA synonymous SNV CCDC9:NM_015603:exon8:c.A868C:p.R290R exonic ENSG00000105321 NA synonymous SNV ENSG00000105321:ENST00000221922:exon8:c.A868C:p.R290R Score=518;Name=lod=170 NA 19q13.32 NA Name=c-Myc NA NA rs10413121 0.52 0.52 0.408 0.511981 0.4294 0.6825 0.5821 0.3411 0.6022 0.47 0.65 0.55 0.42 0.5221 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.26831 1.26831 NA 0.433907 0.313552 ID=COSM1163603;OCCURENCE=1(pancreas) 0.449 NA 6.2812596 1032 15 90784250 90784250 T C exonic GDPGP1 NA nonsynonymous SNV GDPGP1:NM_001013657:exon4:c.T110C:p.M37T exonic ENSG00000183208 NA nonsynonymous SNV ENSG00000183208:ENST00000329600:exon1:c.T110C:p.M37T,ENSG00000183208:ENST00000558017:exon4:c.T110C:p.M37T,ENSG00000183208:ENST00000559204:exon4:c.T110C:p.M37T,ENSG00000183208:ENST00000561433:exon5:c.T110C:p.M37T NA NA 15q26.1 NA NA Name=2 NA rs7171194 0.79 0.79 0.788 0.820487 0.7018 0.7996 0.7968 0.9894 0.7526 0.7 0.75 0.76 0.98 0.702 0.98 0.61 T 0.0 B 0.0 B 0.435 N 1.000 P -0.145 N 2.03 T -1.034 T 0.000 T 0.319 1.349 10.43 -1.38 -0.078 0.115 5.664 1.348781 1.348781 0.15 0.648325 0.939973 NA 0.775 NA 6.2812084 1032 1 12401868 12401868 A C exonic VPS13D NA synonymous SNV VPS13D:NM_018156:exon40:c.A8583C:p.P2861P,VPS13D:NM_015378:exon41:c.A8658C:p.P2886P exonic ENSG00000048707 NA synonymous SNV ENSG00000048707:ENST00000356315:exon40:c.A8583C:p.P2861P,ENSG00000048707:ENST00000358136:exon41:c.A8658C:p.P2886P NA NA 1p36.22 NA NA NA NA rs28551666 0.8 0.8 0.815 0.796725 0.7913 0.8978 0.7579 0.7398 0.8027 0.78 0.9 0.76 0.73 0.791 0.9 . . . . . . . . 0.000 P . . . . -1.029 T 0.000 T . 1.225 9.971 -11.6 -2.202 -3.659 8.507 1.225393 NA NA 0.803605 0.759192 NA 0.899 NA 6.2807616 1032 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 1032 16 88872511 88872511 T C exonic CDT1 NA synonymous SNV CDT1:NM_030928:exon6:c.T915C:p.H305H exonic ENSG00000167513 NA synonymous SNV ENSG00000167513:ENST00000301019:exon6:c.T915C:p.H305H NA NA 16q24.3 NA Name=ZNF263,Pol2(phosphoS2) Name=9 NA rs510862 0.85 0.85 0.857 0.870208 0.7753 0.8819 0.7767 0.9864 0.865 0.78 0.88 0.77 0.97 0.8183 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 -1.015468 NA NA 0.793152 0.95438 NA 0.848 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116655.2;CLNDSDB=.;CLNDSDBID=. 6.2799146 1032 3 123357037 123357037 A G exonic MYLK NA synonymous SNV MYLK:NM_053026:exon28:c.T4635C:p.N1545N,MYLK:NM_053028:exon28:c.T4635C:p.N1545N,MYLK:NM_053025:exon29:c.T4842C:p.N1614N,MYLK:NM_053027:exon29:c.T4842C:p.N1614N exonic ENSG00000065534 NA synonymous SNV ENSG00000065534:ENST00000354792:exon11:c.T1242C:p.N414N,ENSG00000065534:ENST00000475616:exon26:c.T4842C:p.N1614N,ENSG00000065534:ENST00000346322:exon28:c.T4635C:p.N1545N,ENSG00000065534:ENST00000359169:exon29:c.T4842C:p.N1614N,ENSG00000065534:ENST00000360304:exon29:c.T4842C:p.N1614N,ENSG00000065534:ENST00000360772:exon30:c.T4842C:p.N1614N Score=426;Name=lod=72 NA 3q21.1 NA NA NA NA rs820463 0.35 0.35 0.345 0.374401 0.0785 0.6399 0.3271 0.4743 0.3037 0.09 0.67 0.28 0.45 0.2182 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 0.141644 NA NA 0.090233 0.40808 NA 0.268 NA 6.2797336 1032 3 193374964 193374964 T C exonic OPA1 NA synonymous SNV OPA1:NM_130831:exon20:c.T2001C:p.A667A,OPA1:NM_015560:exon21:c.T2109C:p.A703A,OPA1:NM_130832:exon21:c.T2055C:p.A685A,OPA1:NM_130833:exon21:c.T2112C:p.A704A,OPA1:NM_130834:exon22:c.T2163C:p.A721A,OPA1:NM_130835:exon22:c.T2166C:p.A722A,OPA1:NM_130836:exon22:c.T2220C:p.A740A,OPA1:NM_130837:exon23:c.T2274C:p.A758A exonic ENSG00000198836 NA synonymous SNV ENSG00000198836:ENST00000361150:exon21:c.T2112C:p.A704A,ENSG00000198836:ENST00000392438:exon21:c.T2109C:p.A703A,ENSG00000198836:ENST00000361715:exon22:c.T2166C:p.A722A,ENSG00000198836:ENST00000361828:exon22:c.T2163C:p.A721A,ENSG00000198836:ENST00000361908:exon22:c.T2220C:p.A740A,ENSG00000198836:ENST00000361510:exon23:c.T2274C:p.A758A Score=708;Name=lod=1001 NA 3q29 NA NA NA NA rs9851685 0.45 0.45 0.451 0.466454 0.4563 0.3571 0.4697 0.5862 0.4254 0.46 0.33 0.44 0.6 0.4668 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.459059 1.459059 NA 0.46407 0.561734 NA 0.493 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000081757.1|RCV000127282.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.2794966 1032 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 1032 3 37368755 37368755 T A exonic GOLGA4 NA nonsynonymous SNV GOLGA4:NM_002078:exon14:c.T5378A:p.M1793K,GOLGA4:NM_001172713:exon15:c.T5444A:p.M1815K exonic ENSG00000144674 NA nonsynonymous SNV ENSG00000144674:ENST00000437131:exon12:c.T4991A:p.M1664K,ENSG00000144674:ENST00000361924:exon14:c.T5378A:p.M1793K,ENSG00000144674:ENST00000356847:exon15:c.T5444A:p.M1815K NA NA 3p22.2 NA NA NA NA rs62241896 0.24 0.24 0.233 0.196486 0.3579 0.0764 0.3012 0.1407 0.1554 0.37 0.09 0.35 0.13 0.3033 0.39 0.93 T 0.013 B 0.006 B 0.875 N 1.000 P 1.61 L 1.99 T -0.920 T 0.000 T 0.123 -0.19 3.075 -1.3 -0.306 -0.108 3.351 -0.19034 NA 0.11 0.392766 0.190509 NA 0.304 NA 6.2793674 1032 17 4356375 4356375 G T exonic SPNS3 NA nonsynonymous SNV SPNS3:NM_182538:exon8:c.G988T:p.A330S exonic ENSG00000182557 NA nonsynonymous SNV ENSG00000182557:ENST00000333476:exon7:c.G607T:p.A203S,ENSG00000182557:ENST00000355530:exon8:c.G988T:p.A330S NA NA 17p13.2 NA NA NA NA rs11655342 0.23 0.23 0.185 0.245008 0.3459 0.1091 0.4582 0.0439 0.4018 0.35 0.1 0.43 0.06 0.3508 0.43 1 T 0.007 B 0.032 B 0.032 N 1.000 P -0.135 N 0.46 T -0.977 T 0.000 T 0.048 -1.225 0.061 -1.19 -0.372 0.283 8.790 -1.224667 NA 1 0.358023 0.088743 NA 0.246 NA 6.2786104 1032 10 122665459 122665459 C G exonic WDR11 NA synonymous SNV WDR11:NM_018117:exon27:c.C3363G:p.V1121V exonic ENSG00000120008 NA synonymous SNV ENSG00000120008:ENST00000263461:exon27:c.C3363G:p.V1121V Score=619;Name=lod=436 NA 10q26.12 NA NA NA NA rs3740307 0.16 0.16 0.138 0.155152 0.1093 0.3373 0.2305 0.0129 0.1534 0.1 0.33 0.19 0.02 0.1497 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.221708 NA NA 0.12907 0.032683 ID=COSM147069;OCCURENCE=1(stomach) 0.072 NA 6.2785966 1032 1 11771988 11771988 A G exonic DRAXIN NA synonymous SNV DRAXIN:NM_198545:exon4:c.A723G:p.L241L exonic ENSG00000162490 NA synonymous SNV ENSG00000162490:ENST00000294485:exon4:c.A723G:p.L241L Score=452;Name=lod=92 NA 1p36.22 NA NA NA NA rs17037327 0.1 0.1 0.095 0.0966454 0.1262 0.0655 0.0821 0.0938 0.1125 0.13 0.06 0.09 0.12 0.1301 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122159 NA NA 0.13186 0.096005 NA 0.116 NA 6.2785066 1032 12 13716638 13716638 G A exonic GRIN2B NA synonymous SNV GRIN2B:NM_000834:exon13:c.C3534T:p.H1178H exonic ENSG00000150086 NA synonymous SNV ENSG00000150086:ENST00000279593:exon13:c.C3534T:p.H1178H Score=395;Name=lod=54 NA 12p13.1 NA NA NA NA rs1806191 0.3 0.3 0.281 0.247604 0.497 0.0139 0.4452 0.1558 0.2157 0.5 0.02 0.51 0.17 0.3915 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.960978 NA NA 0.499767 0.209714 NA 0.268 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117197.2;CLNDSDB=.;CLNDSDBID=. 6.2783996 1032 1 237814783 237814783 C T exonic RYR2 NA synonymous SNV RYR2:NM_001035:exon51:c.C7806T:p.H2602H exonic ENSG00000198626 NA synonymous SNV ENSG00000198626:ENST00000542537:exon50:c.C7758T:p.H2586H,ENSG00000198626:ENST00000366574:exon51:c.C7806T:p.H2602H,ENSG00000198626:ENST00000360064:exon52:c.C7800T:p.H2600H Score=524;Name=lod=179 NA 1q43 NA NA NA NA rs684923 0.55 0.55 0.546 0.554912 0.4324 0.7956 0.5029 0.4864 0.5624 0.43 0.79 0.5 0.49 0.5198 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 0.180112 NA NA 0.436082 0.483406 NA 0.572 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036793.1;CLNDSDB=.;CLNDSDBID=. 6.2783846 1032 20 139576 139576 C A exonic DEFB127 NA nonsynonymous SNV DEFB127:NM_139074:exon2:c.C211A:p.R71S exonic ENSG00000088782 NA nonsynonymous SNV ENSG00000088782:ENST00000382388:exon2:c.C211A:p.R71S NA NA 20p13 NA NA NA NA rs16995685 0.32 0.32 0.276 0.324081 0.3419 0.5407 0.3487 0.0431 0.4448 0.34 0.5 0.37 0.04 0.3608 0.5 0.33 T 0.057 B 0.028 B 0.657 N 1.000 P . . 2.44 T -0.926 T 0.000 T 0.044 -0.875 0.491 1.24 0.367 0.595 4.032 -0.875449 NA 0.56 0.352326 0.090558 NA 0.145 NA 6.2783074 1032 9 115580008 115580008 G C exonic SNX30 NA synonymous SNV SNX30:NM_001012994:exon3:c.G372C:p.L124L exonic ENSG00000148158 NA synonymous SNV ENSG00000148158:ENST00000374232:exon3:c.G372C:p.L124L Score=532;Name=lod=194 NA 9q32 Score=852;Name=V$OCT1_02 NA Name=6 NA rs10117709 0.77 0.77 0.763 0.764577 0.7932 0.7877 0.7939 0.6384 0.8609 0.79 0.83 0.8 0.66 0.7925 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 1.182099 NA NA 0.802956 0.682462 NA 0.768 NA 6.2780106 1032 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$GR_Q6 Name=ZNF263 NA NA rs1057865 0.35 0.35 0.33 0.363019 0.4791 0.256 0.4726 0.2284 0.4581 0.47 0.25 0.46 0.21 0.44 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329255 NA NA 0.470602 0.273256 NA 0.435 NA 6.2769646 1032 19 8438716 8438716 G A exonic ANGPTL4 NA synonymous SNV ANGPTL4:NM_001039667:exon6:c.G1053A:p.P351P,ANGPTL4:NM_139314:exon7:c.G1167A:p.P389P exonic ENSG00000167772 NA synonymous SNV ENSG00000167772:ENST00000393962:exon6:c.G1053A:p.P351P,ENSG00000167772:ENST00000301455:exon7:c.G1167A:p.P389P,ENSG00000167772:ENST00000593998:exon7:c.G1167A:p.P389P,ENSG00000167772:ENST00000541807:exon8:c.G666A:p.P222P NA NA 19p13.2 NA Name=Pol2 NA NA rs11672433 0.07 0.07 0.072 0.0555112 0.1441 0.001 0.072 0.0061 0.0757 0.15 0.0035 0.11 0.01 0.1037 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.030239 NA NA 0.141977 0.02769 ID=COSM440683;OCCURENCE=1(breast) 0.029 NA 6.2768896 1032 17 3494361 3494361 G A exonic TRPV1 NA synonymous SNV TRPV1:NM_080706:exon3:c.C501T:p.H167H,TRPV1:NM_018727:exon4:c.C501T:p.H167H,TRPV1:NM_080705:exon4:c.C501T:p.H167H,TRPV1:NM_080704:exon5:c.C501T:p.H167H exonic ENSG00000196689,ENSG00000262304 NA synonymous SNV ENSG00000196689:ENST00000174621:exon3:c.C495T:p.H165H,ENSG00000196689:ENST00000310522:exon3:c.C501T:p.H167H,ENSG00000196689:ENST00000399756:exon3:c.C501T:p.H167H,ENSG00000196689:ENST00000425167:exon3:c.C501T:p.H167H,ENSG00000196689:ENST00000576351:exon3:c.C501T:p.H167H,ENSG00000196689:ENST00000399759:exon4:c.C501T:p.H167H,ENSG00000196689:ENST00000571088:exon4:c.C501T:p.H167H,ENSG00000262304:ENST00000572705:exon5:c.C501T:p.H167H NA NA 17p13.2 Score=728;Name=V$NRSF_01 NA NA NA rs222748 0.14 0.14 0.125 0.16234 0.1352 0.2659 0.1383 0.0242 0.2873 0.14 0.25 0.13 0.03 0.1473 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.559601 NA NA 0.108044 0.039202 ID=COSM1382779,COSM1382778;OCCURENCE=1(large_intestine) 0.145 NA 6.2761226 1032 9 1056728 1056728 G C exonic DMRT2 NA nonsynonymous SNV DMRT2:NM_181872:exon4:c.G1141C:p.A381P exonic ENSG00000173253 NA nonsynonymous SNV ENSG00000173253:ENST00000358146:exon3:c.G1141C:p.A381P,ENSG00000173253:ENST00000302441:exon4:c.G1141C:p.A381P,ENSG00000173253:ENST00000382251:exon5:c.G1141C:p.A381P NA NA 9p24.3 NA NA NA NA rs3824419 0.34 0.34 0.328 0.346645 0.3489 0.4762 0.4222 0.1528 0.4192 0.35 0.5 0.38 0.12 0.365 0.5 0.24 T 0.337 B 0.063 B 0.391 N 1.000 P 0.55 N 1.89 T -0.921 T 0.000 T 0.054 0.509 6.76 -1.62 -0.150 0.457 1.553 0.509175 NA 0.09 0.343721 0.186791 NA 0.261 NA 6.2757124 1033 20 10633237 10633237 G A exonic JAG1 NA synonymous SNV JAG1:NM_000214:exon6:c.C765T:p.Y255Y exonic ENSG00000101384 NA synonymous SNV ENSG00000101384:ENST00000423891:exon4:c.C288T:p.Y96Y,ENSG00000101384:ENST00000254958:exon6:c.C765T:p.Y255Y Score=592;Name=lod=338 NA 20p12.2 NA NA NA NA rs1131695 0.41 0.41 0.404 0.423323 0.4722 0.3859 0.4164 0.3366 0.5337 0.48 0.34 0.5 0.32 0.4541 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.110751 NA NA 0.466279 0.343395 NA 0.442 CLINSIG=probable-non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000132569.1;CLNDSDB=.;CLNDSDBID=. 6.2740876 1033 7 64452698 64452698 T C exonic ERV3-1 NA nonsynonymous SNV ERV3-1:NM_001007253:exon2:c.A707G:p.Y236C exonic ENSG00000213462 NA nonsynonymous SNV ENSG00000213462:ENST00000394323:exon2:c.A707G:p.Y236C NA NA 7q11.21 NA NA NA NA rs71539632 0.01 0.01 0.003 0.0091853 0.0179 NA 0.0014 NA 0.0276 0.02 NA 0.0028 NA 0.0207 0.022 0.18 T . . . . . . 1.000 N 0 N 2.7 T -0.960 T 0.009 T 0.123 1.258 10.1 0.109 0.156 0.198 . 1.257644 1.257644 0.06 0.021557 0.002292 NA 0.007 NA 6.2731764 1033 11 66031660 66031660 C T exonic KLC2 NA synonymous SNV KLC2:NM_001134774:exon7:c.C855T:p.D285D,KLC2:NM_001134775:exon8:c.C1086T:p.D362D,KLC2:NM_001134776:exon8:c.C1086T:p.D362D,KLC2:NM_022822:exon8:c.C1086T:p.D362D exonic ENSG00000174996 NA synonymous SNV ENSG00000174996:ENST00000394065:exon6:c.C669T:p.D223D,ENSG00000174996:ENST00000394066:exon6:c.C855T:p.D285D,ENSG00000174996:ENST00000421552:exon7:c.C855T:p.D285D,ENSG00000174996:ENST00000316924:exon8:c.C1086T:p.D362D,ENSG00000174996:ENST00000394067:exon8:c.C1086T:p.D362D,ENSG00000174996:ENST00000417856:exon8:c.C1086T:p.D362D Score=566;Name=lod=267 NA 11q13.2 Score=875;Name=V$RORA1_01 NA NA NA rs1151539 0.37 0.37 0.319 0.332268 0.4841 0.252 0.5086 0.205 0.3057 0.48 0.24 0.5 0.26 0.4465 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.514491 NA NA 0.463261 0.247035 NA 0.239 NA 6.2728056 1033 16 74499589 74499589 G A exonic GLG1 NA synonymous SNV GLG1:NM_001145666:exon18:c.C2619T:p.C873C,GLG1:NM_001145667:exon19:c.C2652T:p.C884C,GLG1:NM_012201:exon19:c.C2652T:p.C884C exonic ENSG00000090863 NA synonymous SNV ENSG00000090863:ENST00000447066:exon18:c.C2619T:p.C873C,ENSG00000090863:ENST00000205061:exon19:c.C2652T:p.C884C,ENSG00000090863:ENST00000422840:exon19:c.C2652T:p.C884C Score=669;Name=lod=699 NA 16q23.1 NA NA NA NA rs2303275 0.13 0.13 0.115 0.111821 0.1382 0.1548 0.1643 0.0552 0.0798 0.14 0.16 0.15 0.05 0.1231 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.048682 NA NA 0.133023 0.067334 NA 0.167 NA 6.2723436 1033 20 744450 744450 G A exonic SLC52A3 NA synonymous SNV SLC52A3:NM_033409:exon3:c.C765T:p.L255L exonic ENSG00000101276 NA synonymous SNV ENSG00000101276:ENST00000217254:exon3:c.C765T:p.L255L,ENSG00000101276:ENST00000381944:exon3:c.C765T:p.L255L Score=355;Name=lod=37 NA 20p13 Score=734;Name=V$MYOGNF1_01 NA NA NA rs3746805 0.32 0.32 0.291 0.308706 0.4881 0.124 0.4755 0.1278 0.4407 0.5 0.16 0.44 0.16 0.4312 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387113 NA NA 0.475465 0.179528 NA 0.457 NA 6.2719016 1033 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 1033 12 5674754 5674754 G A exonic ANO2 NA synonymous SNV ANO2:NM_020373:exon25:c.C2697T:p.S899S exonic ENSG00000047617 NA synonymous SNV ENSG00000047617:ENST00000327087:exon25:c.C2697T:p.S899S,ENSG00000047617:ENST00000546188:exon25:c.C2700T:p.S900S,ENSG00000047617:ENST00000356134:exon26:c.C2700T:p.S900S Score=592;Name=lod=341 NA 12p13.31 Score=856;Name=V$HAND1E47_01 NA NA NA rs2277398 0.36 0.36 0.337 0.342252 0.4553 0.3284 0.3646 0.211 0.4018 0.46 0.28 0.41 0.25 0.4734 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674062 NA NA 0.466432 0.238782 NA 0.341 NA 6.2715346 1033 1 158549264 158549264 G A exonic OR10X1 NA synonymous SNV OR10X1:NM_001004477:exon1:c.C426T:p.I142I exonic ENSG00000186400 NA synonymous SNV ENSG00000186400:ENST00000368150:exon1:c.C426T:p.I142I Score=445;Name=lod=86 NA 1q23.1 Score=881;Name=V$TAL1BETAITF2_01 NA NA NA rs863360 0.53 0.53 0.53 0.502396 0.4732 0.5853 0.4135 0.5741 0.4131 0.49 0.62 0.42 0.59 0.4772 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.755257 NA NA 0.444884 0.567181 ID=COSM424237;OCCURENCE=1(breast) 0.558 NA 6.2713826 1033 1 223176275 223176275 G A exonic DISP1 NA synonymous SNV DISP1:NM_032890:exon10:c.G1536A:p.V512V exonic ENSG00000154309 NA synonymous SNV ENSG00000154309:ENST00000284476:exon8:c.G1536A:p.V512V Score=387;Name=lod=50 NA 1q41 NA NA NA NA rs61738819 0.06 0.06 0.059 0.0573083 0.1392 NA 0.0692 0.0121 0.0849 0.13 NA 0.07 0.02 0.1053 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085583 NA NA 0.151047 0.040172 NA 0.058 NA 6.2711196 1033 3 49898273 49898273 A G exonic CAMKV NA synonymous SNV CAMKV:NM_024046:exon8:c.T651C:p.N217N exonic ENSG00000164076 NA synonymous SNV ENSG00000164076:ENST00000296471:exon7:c.T567C:p.N189N,ENSG00000164076:ENST00000463537:exon8:c.T651C:p.N217N,ENSG00000164076:ENST00000466940:exon8:c.T522C:p.N174N,ENSG00000164076:ENST00000467248:exon8:c.T426C:p.N142N,ENSG00000164076:ENST00000477224:exon8:c.T651C:p.N217N,ENSG00000164076:ENST00000488336:exon8:c.T651C:p.N217N Score=461;Name=lod=100 NA 3p21.31 Score=795;Name=V$AHRARNT_02 NA NA NA rs2681781 0.4 0.4 0.422 0.403155 0.4911 0.1448 0.3703 0.6914 0.2127 0.47 0.15 0.36 0.63 0.4081 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114411 NA NA 0.496628 0.634816 NA 0.355 NA 6.2708386 1033 1 111861841 111861841 A G exonic CHIA NA nonsynonymous SNV CHIA:NM_001258002:exon6:c.A532G:p.I178V,CHIA:NM_021797:exon7:c.A691G:p.I231V,CHIA:NM_001040623:exon8:c.A532G:p.I178V,CHIA:NM_001258003:exon8:c.A691G:p.I231V,CHIA:NM_001258001:exon9:c.A691G:p.I231V,CHIA:NM_001258005:exon9:c.A532G:p.I178V,CHIA:NM_001258004:exon10:c.A532G:p.I178V,CHIA:NM_201653:exon10:c.A1015G:p.I339V exonic ENSG00000134216 NA nonsynonymous SNV ENSG00000134216:ENST00000483391:exon6:c.A532G:p.I178V,ENSG00000134216:ENST00000422815:exon7:c.A847G:p.I283V,ENSG00000134216:ENST00000489524:exon7:c.A532G:p.I178V,ENSG00000134216:ENST00000353665:exon8:c.A532G:p.I178V,ENSG00000134216:ENST00000430615:exon8:c.A691G:p.I231V,ENSG00000134216:ENST00000343320:exon9:c.A1015G:p.I339V,ENSG00000134216:ENST00000451398:exon9:c.A532G:p.I178V,ENSG00000134216:ENST00000369740:exon10:c.A1015G:p.I339V NA NA 1p13.2 NA NA NA NA rs2275253 0.62 0.62 0.654 0.659145 0.7107 0.4802 0.4251 0.7958 0.772 0.72 0.42 0.5 0.77 0.6554 0.77 0.62 T 0.0 B 0.001 B 0.396 N 1.000 P -0.88 N 3.55 T -0.904 T 0.002 T 0.175 -2.143 0.005 -3.21 -0.795 -0.478 8.042 -2.143235 NA 1 0.696628 0.772583 ID=COSM1179735,COSM1179734;OCCURENCE=1(prostate) 0.739 NA 6.2706054 1033 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 1033 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 1033 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 1033 2 167334085 167334085 G T exonic SCN7A NA nonsynonymous SNV SCN7A:NM_002976:exon2:c.C122A:p.T41N exonic ENSG00000136546 NA nonsynonymous SNV ENSG00000136546:ENST00000409855:exon2:c.C122A:p.T41N,ENSG00000136546:ENST00000424326:exon2:c.C122A:p.T41N,ENSG00000136546:ENST00000441411:exon2:c.C122A:p.T41N,ENSG00000136546:ENST00000419992:exon3:c.C122A:p.T41N NA NA 2q24.3 NA NA NA NA rs7565062 0.69 0.69 0.668 0.688698 0.661 0.6617 0.6499 0.7542 0.684 0.68 0.68 0.69 0.73 0.7247 0.75 1 T 0.0 B 0.0 B 0.202 N 1.000 P -2.125 N -3.89 D -0.946 T 0.000 T 0.078 -2.429 0.003 1.11 -0.132 -0.624 6.023 -2.428781 NA 1 0.678922 0.752321 NA 0.572 NA 6.2687114 1033 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 1033 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 1033 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 1033 20 62187187 62187187 T C exonic C20orf195 NA synonymous SNV C20orf195:NM_024059:exon2:c.T171C:p.S57S exonic ENSG00000125531 NA synonymous SNV ENSG00000125531:ENST00000370097:exon2:c.T171C:p.S57S,ENSG00000125531:ENST00000370098:exon2:c.T171C:p.S57S Score=426;Name=lod=72 NA 20q13.33 Score=746;Name=V$SEF1_C NA NA NA rs3746348 0.62 0.62 0.62 0.663139 0.4364 0.9067 0.6081 0.584 0.7914 0.44 0.93 0.57 0.59 0.5441 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17525 NA NA 0.418023 0.544031 NA 0.63 NA 6.2681436 1033 19 49206603 49206603 C T exonic FUT2 NA synonymous SNV FUT2:NM_000511:exon2:c.C390T:p.N130N,FUT2:NM_001097638:exon2:c.C390T:p.N130N exonic ENSG00000176920 NA synonymous SNV ENSG00000176920:ENST00000391876:exon2:c.C390T:p.N130N,ENSG00000176920:ENST00000425340:exon2:c.C390T:p.N130N,ENSG00000176920:ENST00000522966:exon2:c.C390T:p.N130N Score=414;Name=lod=64 Name=Liver enzyme levels (alkaline phosphatase) 19q13.33 NA NA NA NA rs281377 0.54 0.54 0.517 0.496006 0.4722 0.8452 0.5115 0.2678 0.4581 0.48 0.84 0.51 0.29 0.4882 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.082292 NA NA 0.438125 0.26158 NA 0.326 NA 6.2681416 1033 3 38766701 38766701 C T exonic SCN10A NA synonymous SNV SCN10A:NM_006514:exon17:c.G3192A:p.T1064T exonic ENSG00000185313 NA synonymous SNV ENSG00000185313:ENST00000449082:exon17:c.G3192A:p.T1064T NA NA 3p22.2 Score=716;Name=V$BRACH_01 NA NA NA rs6791171 0.11 0.11 0.112 0.115415 0.1322 0.002 0.1383 0.1967 0.089 0.14 0.0017 0.15 0.18 0.1256 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036348 NA NA 0.141395 0.199728 NA 0.101 NA 6.2674716 1033 19 11227554 11227554 C T exonic LDLR NA synonymous SNV LDLR:NM_001195800:exon10:c.C1221T:p.L407L,LDLR:NM_001195799:exon11:c.C1602T:p.L534L,LDLR:NM_001195802:exon11:c.C1362T:p.L454L,LDLR:NM_001195803:exon11:c.C1344T:p.L448L,LDLR:NM_000527:exon12:c.C1725T:p.L575L,LDLR:NM_001195798:exon12:c.C1725T:p.L575L exonic ENSG00000130164 NA synonymous SNV ENSG00000130164:ENST00000455727:exon10:c.C1221T:p.L407L,ENSG00000130164:ENST00000535915:exon11:c.C1602T:p.L534L,ENSG00000130164:ENST00000545707:exon11:c.C1344T:p.L448L,ENSG00000130164:ENST00000557933:exon12:c.C1725T:p.L575L,ENSG00000130164:ENST00000558013:exon12:c.C1725T:p.L575L,ENSG00000130164:ENST00000558518:exon12:c.C1725T:p.L575L Score=473;Name=lod=112 NA 19p13.2 NA NA NA NA rs1799898 0.09 0.09 0.091 0.0888578 0.159 0.003 0.072 0.0787 0.1309 0.15 0.01 0.09 0.08 0.1158 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816371 NA NA 0.124651 0.08443 NA 0.13 NA 6.2672156 1033 19 33096786 33096786 G A exonic ANKRD27 NA synonymous SNV ANKRD27:NM_032139:exon24:c.C2448T:p.Y816Y exonic ENSG00000105186 NA synonymous SNV ENSG00000105186:ENST00000306065:exon24:c.C2448T:p.Y816Y Score=425;Name=lod=71 NA 19q13.11 NA NA NA NA rs7247420 0.22 0.22 0.226 0.234625 0.1153 0.3393 0.1427 0.3434 0.1677 0.1 0.32 0.15 0.35 0.1625 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.989699 NA NA 0.121977 0.312528 NA 0.167 NA 6.2668896 1033 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 1033 6 107113715 107113715 G A exonic QRSL1 NA synonymous SNV QRSL1:NM_018292:exon11:c.G1425A:p.L475L exonic ENSG00000130348 NA synonymous SNV ENSG00000130348:ENST00000369046:exon11:c.G1425A:p.L475L Score=558;Name=lod=246 NA 6q21 NA NA Name=10 NA rs2015205 0.35 0.35 0.318 0.333666 0.4642 0.1617 0.402 0.3109 0.3589 0.48 0.13 0.43 0.34 0.4388 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.221924 NA NA 0.496977 0.359283 NA 0.406 NA 6.2666896 1033 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 1033 1 240637499 240637499 C T UTR3 FMN2 NM_020066:c.*45C>T NA NA UTR3 ENSG00000155816 ENST00000319653:c.*45C>T,ENST00000545751:c.*45C>T,ENST00000543681:c.*45C>T NA NA NA NA 1q43 NA Name=c-Jun,STAT1,BATF,p300_(N-15),STAT3,CEBPB,JunD Name=85 NA rs76724708 0.02 0.02 0.011 0.0117812 0.0318 NA 0.0058 NA 0.0235 0.04 NA 0.01 NA 0.0198 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 -0.425239 NA NA 0.015352 0.002505 NA 0.065 NA 6.2663814 1033 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=CTCF,CTCF_(SC-5916),YY1_(C-20),Rad21,CTCFL_(SC-98982) 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 1033 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 1033 19 7675369 7675369 C T exonic CAMSAP3 NA synonymous SNV CAMSAP3:NM_020902:exon6:c.C768T:p.C256C,CAMSAP3:NM_001080429:exon8:c.C849T:p.C283C exonic ENSG00000076826 NA synonymous SNV ENSG00000076826:ENST00000160298:exon6:c.C768T:p.C256C,ENSG00000076826:ENST00000446248:exon8:c.C849T:p.C283C Score=507;Name=lod=153 NA 19p13.2 NA NA NA NA rs62113420 0.09 0.09 0.109 0.0740815 0.161 0.002 0.0994 0.0862 0.0245 0.16 NA 0.1 0.11 0.1038 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.973444 NA NA 0.135963 0.075097 NA 0.188 NA 6.2659036 1033 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$GR_Q6 NA NA NA rs1421484 0.46 0.46 0.44 0.492612 0.4652 0.2708 0.5793 0.5953 0.5491 0.47 0.27 0.55 0.59 0.476 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431531 NA NA 0.460233 0.602587 NA 0.435 NA 6.2652336 1033 7 124387092 124387092 C G exonic GPR37 NA synonymous SNV GPR37:NM_005302:exon2:c.G1329C:p.L443L exonic ENSG00000170775 NA synonymous SNV ENSG00000170775:ENST00000303921:exon2:c.G1329C:p.L443L Score=558;Name=lod=248 NA 7q31.33 Score=733;Name=V$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 1034 3 56763328 56763328 T C exonic ARHGEF3 NA synonymous SNV ARHGEF3:NM_001128616:exon10:c.A1569G:p.G523G,ARHGEF3:NM_019555:exon10:c.A1551G:p.G517G,ARHGEF3:NM_001128615:exon13:c.A1647G:p.G549G exonic ENSG00000163947 NA synonymous SNV ENSG00000163947:ENST00000296315:exon10:c.A1551G:p.G517G,ENSG00000163947:ENST00000413728:exon10:c.A1569G:p.G523G,ENSG00000163947:ENST00000497267:exon10:c.A1464G:p.G488G,ENSG00000163947:ENST00000496106:exon11:c.A1569G:p.G523G,ENSG00000163947:ENST00000338458:exon13:c.A1647G:p.G549G Score=554;Name=lod=237 NA 3p14.3 Score=851;Name=V$FREAC4_01 NA NA NA rs1565377 0.67 0.67 0.646 0.728435 0.4245 0.8542 0.6585 0.8722 0.7669 0.44 0.83 0.62 0.87 0.5584 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 1.00459 NA NA 0.419186 0.814571 NA 0.58 NA 6.2645806 1034 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=KAP1,CTCF_(SC-5916),CTCF_(C-20),CTCF,SMC3_(ab9263),CTCFL_(SC-98982),ZNF263,Rad21,YY1_(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 1034 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 1034 1 17301780 17301780 A G exonic MFAP2 NA synonymous SNV MFAP2:NM_001135247:exon8:c.T429C:p.H143H,MFAP2:NM_001135248:exon8:c.T429C:p.H143H,MFAP2:NM_002403:exon8:c.T432C:p.H144H,MFAP2:NM_017459:exon8:c.T432C:p.H144H exonic ENSG00000117122 NA synonymous SNV ENSG00000117122:ENST00000375534:exon7:c.T429C:p.H143H,ENSG00000117122:ENST00000375535:exon8:c.T432C:p.H144H,ENSG00000117122:ENST00000438542:exon8:c.T429C:p.H143H Score=508;Name=lod=155 NA 1p36.13 NA Name=Pol2-4H8 NA NA rs761422 0.42 0.42 0.402 0.415335 0.4861 0.2401 0.4582 0.4743 0.4131 0.51 0.29 0.44 0.43 0.4427 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.263154 NA NA 0.473953 0.449387 NA 0.493 NA 6.2639136 1034 13 36229873 36229873 C T exonic NBEA NA synonymous SNV NBEA:NM_001204197:exon14:c.C1665T:p.D555D,NBEA:NM_015678:exon54:c.C8286T:p.D2762D exonic ENSG00000172915 NA synonymous SNV ENSG00000172915:ENST00000379922:exon9:c.C1020T:p.D340D,ENSG00000172915:ENST00000537702:exon14:c.C1665T:p.D555D,ENSG00000172915:ENST00000379939:exon53:c.C8277T:p.D2759D,ENSG00000172915:ENST00000400445:exon54:c.C8286T:p.D2762D,ENSG00000172915:ENST00000540320:exon54:c.C8286T:p.D2762D,ENSG00000172915:ENST00000310336:exon55:c.C8286T:p.D2762D Score=498;Name=lod=141 NA 13q13.3 NA NA NA NA rs2274550 0.1 0.1 0.102 0.117212 0.1342 0.122 0.062 0.0492 0.226 0.14 0.12 0.06 0.05 0.1304 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.984025 NA NA 0.138438 0.059142 ID=COSM147664;OCCURENCE=1(stomach) 0.116 NA 6.2636286 1034 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 1034 6 38650588 38650588 T A exonic GLO1 NA synonymous SNV GLO1:NM_006708:exon4:c.A372T:p.G124G exonic ENSG00000124767 NA synonymous SNV ENSG00000124767:ENST00000373365:exon4:c.A372T:p.G124G Score=560;Name=lod=252 NA 6p21.2 NA NA NA NA rs1130534 0.21 0.21 0.223 0.234824 0.1272 0.2312 0.1643 0.3525 0.2403 0.13 0.21 0.18 0.37 0.1613 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.379471 NA NA 0.116395 0.302769 NA 0.174 NA 6.2617716 1034 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=Egr-1,ZNF263 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 1034 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 1034 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 1034 3 121154974 121154974 T C exonic POLQ NA nonsynonymous SNV POLQ:NM_199420:exon28:c.A7538G:p.Q2513R exonic ENSG00000051341 NA nonsynonymous SNV ENSG00000051341:ENST00000264233:exon28:c.A7538G:p.Q2513R NA NA 3q13.33 Score=795;Name=V$TCF11MAFG_01 NA NA NA rs1381057 0.72 0.72 0.725 0.745208 0.668 0.877 0.6945 0.6309 0.8793 0.66 0.89 0.69 0.61 0.7217 0.89 1 T 0.0 B 0.001 B 0.541 N 1.000 P -0.14 N 0.85 T -0.965 T 0.000 T 0.009 -0.647 1.151 -0.307 -0.673 -0.473 7.627 -0.646621 NA 1 0.682442 0.644576 NA 0.674 NA 6.2611914 1034 1 247614553 247614553 C T exonic OR2B11 NA synonymous SNV OR2B11:NM_001004492:exon1:c.G732A:p.T244T exonic ENSG00000177535 NA synonymous SNV ENSG00000177535:ENST00000318749:exon1:c.G732A:p.T244T Score=412;Name=lod=63 NA 1q44 NA NA NA NA rs12086048 0.12 0.12 0.114 0.110024 0.1342 0.001 0.1758 0.1891 0.044 0.13 0.0017 0.18 0.21 0.1273 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.352448 NA NA 0.144767 0.196096 ID=COSM328601;OCCURENCE=11(kidney) 0.094 NA 6.2603996 1034 7 116165174 116165174 C T UTR5 CAV1 NM_001172895:c.-1468C>T NA NA exonic ENSG00000105974 NA nonsynonymous SNV ENSG00000105974:ENST00000451122:exon1:c.C58T:p.R20W NA NA 7q31.2 NA Name=Pol2 NA NA rs35182456 0.01 0.01 0.011 0.0159744 0.0179 0.001 0.0144 0.0068 0.0429 0.02 0.0017 0.02 0.01 0.023 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 -0.474846 NA NA 0.032442 0.007944 NA 0.007 NA 6.2599914 1034 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$FOXO4_02 NA NA NA rs2290448 0.39 0.39 0.362 0.332668 0.4861 0.3323 0.4337 0.1936 0.2914 0.48 0.35 0.44 0.23 0.4312 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.82004 NA NA 0.49 0.231276 NA 0.29 NA 6.2593666 1034 4 38930921 38930921 A G exonic FAM114A1 NA synonymous SNV FAM114A1:NM_138389:exon10:c.A1128G:p.L376L exonic ENSG00000197712 NA synonymous SNV ENSG00000197712:ENST00000515037:exon8:c.A507G:p.L169L,ENSG00000197712:ENST00000358869:exon10:c.A1128G:p.L376L Score=507;Name=lod=153 NA 4p14 NA NA NA NA rs3188469 0.07 0.07 0.066 0.0555112 0.1412 0.001 0.0677 0.0318 0.047 0.15 0.0017 0.07 0.04 0.1046 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.25718 1.25718 NA 0.162558 0.058103 NA 0.022 NA 6.2583086 1034 21 40191638 40191638 A G exonic ETS2 NA synonymous SNV ETS2:NM_005239:exon8:c.A1023G:p.P341P,ETS2:NM_001256295:exon9:c.A1443G:p.P481P exonic ENSG00000157557 NA synonymous SNV ENSG00000157557:ENST00000360938:exon8:c.A1023G:p.P341P,ENSG00000157557:ENST00000360214:exon9:c.A1023G:p.P341P NA NA 21q22.2 Score=894;Name=V$CEBPB_02 Name=GR,c-Myc 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 1034 3 126723549 126723549 C T exonic PLXNA1 NA synonymous SNV PLXNA1:NM_032242:exon4:c.C1614T:p.H538H exonic ENSG00000114554 NA synonymous SNV ENSG00000114554:ENST00000251772:exon4:c.C1545T:p.H515H,ENSG00000114554:ENST00000393409:exon4:c.C1614T:p.H538H Score=547;Name=lod=223 NA 3q21.3 NA NA NA NA rs28710010 0.12 0.12 0.095 0.148163 0.1203 0.2044 0.0548 0.0961 0.2556 0.12 0.16 0.06 0.1 0.1878 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.947864 NA NA 0.100862 0.090557 NA 0.051 NA 6.2577046 1034 16 54967096 54967096 C A exonic IRX5 NA nonsynonymous SNV IRX5:NM_001252197:exon3:c.C760A:p.P254T,IRX5:NM_005853:exon3:c.C763A:p.P255T exonic ENSG00000176842 NA nonsynonymous SNV ENSG00000176842:ENST00000558597:exon2:c.C565A:p.P189T,ENSG00000176842:ENST00000320990:exon3:c.C760A:p.P254T,ENSG00000176842:ENST00000394636:exon3:c.C763A:p.P255T NA NA 16q12.2 NA NA NA NA rs13336114 0.37 0.37 0.327 0.363419 0.3201 0.5397 0.3458 0.236 0.411 0.32 0.53 0.34 0.26 0.4554 0.53 0.49 T 0.0 B 0.0 B 0.331 N 1.000 P 0 N 0.3 T -0.935 T 0.000 T 0.06 -1.305 0.036 -0.895 -0.006 0.924 0.496 -1.305222 NA 0.53 0.300272 0.21617 NA 0.246 NA 6.2575614 1034 9 136536679 136536679 G A exonic SARDH NA synonymous SNV SARDH:NM_001134707:exon18:c.C2304T:p.I768I,SARDH:NM_007101:exon18:c.C2304T:p.I768I exonic ENSG00000123453 NA synonymous SNV ENSG00000123453:ENST00000371868:exon6:c.C588T:p.I196I,ENSG00000123453:ENST00000422262:exon17:c.C1800T:p.I600I,ENSG00000123453:ENST00000371872:exon18:c.C2304T:p.I768I,ENSG00000123453:ENST00000439388:exon18:c.C2304T:p.I768I Score=531;Name=lod=191 NA 9q34.2 Score=903;Name=V$CDPCR3HD_01 NA NA NA rs129932 0.6 0.6 0.624 0.583267 0.4523 0.7569 0.5879 0.6483 0.4479 0.46 0.76 0.57 0.65 0.5262 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.381651 NA NA 0.432231 0.577535 NA 0.536 NA 6.2559356 1034 12 113554946 113554946 G A exonic RASAL1 NA synonymous SNV RASAL1:NM_001193521:exon8:c.C663T:p.T221T,RASAL1:NM_001193520:exon9:c.C663T:p.T221T,RASAL1:NM_004658:exon9:c.C663T:p.T221T exonic ENSG00000111344 NA synonymous SNV ENSG00000111344:ENST00000446861:exon8:c.C663T:p.T221T,ENSG00000111344:ENST00000548055:exon8:c.C663T:p.T221T,ENSG00000111344:ENST00000261729:exon9:c.C663T:p.T221T,ENSG00000111344:ENST00000546530:exon9:c.C663T:p.T221T NA NA 12q24.13 Score=862;Name=V$SPZ1_01 NA NA NA rs34456143 0.07 0.07 0.066 0.0553115 0.1511 NA 0.085 0.0083 0.0562 0.16 NA 0.08 0.01 0.1112 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.825609 NA NA 0.148721 0.034044 NA 0.043 NA 6.2556456 1034 12 113532885 113532885 C T exonic DTX1 NA synonymous SNV DTX1:NM_004416:exon7:c.C1425T:p.Y475Y exonic ENSG00000135144 NA synonymous SNV ENSG00000135144:ENST00000257600:exon7:c.C1425T:p.Y475Y Score=594;Name=lod=347 NA 12q24.13 NA NA NA NA rs12426056 0.07 0.07 0.082 0.0567093 0.1511 0.001 0.085 0.0113 0.0583 0.15 0.0017 0.08 0.02 0.1106 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.034342 NA NA 0.149419 0.036541 NA 0.022 NA 6.2555476 1034 7 143093538 143093538 G A exonic EPHA1 NA synonymous SNV EPHA1:NM_005232:exon11:c.C1837T:p.L613L exonic ENSG00000146904 NA synonymous SNV ENSG00000146904:ENST00000275815:exon11:c.C1837T:p.L613L Score=457;Name=lod=96 NA 7q34 Score=856;Name=V$HNF4_01 Name=HNF4A_(H-171) NA NA rs10952549 0.84 0.84 0.816 0.859824 0.7922 0.996 0.8876 0.7542 0.9121 0.78 1 0.86 0.75 0.8244 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.963243 NA NA 0.794535 0.759646 NA 0.783 NA 6.2555316 1034 2 10095185 10095185 T C exonic GRHL1 NA synonymous SNV GRHL1:NM_198182:exon2:c.T162C:p.D54D exonic ENSG00000134317 NA synonymous SNV ENSG00000134317:ENST00000324907:exon2:c.T162C:p.D54D,ENSG00000134317:ENST00000439493:exon2:c.T162C:p.D54D,ENSG00000134317:ENST00000472167:exon2:c.T162C:p.D54D,ENSG00000134317:ENST00000405379:exon3:c.T162C:p.D54D,ENSG00000134317:ENST00000464418:exon3:c.T171C:p.D57D Score=582;Name=lod=309 NA 2p25.1 NA NA NA NA rs16867251 0.16 0.16 0.18 0.174321 0.1461 0.0109 0.1023 0.4365 0.0685 0.14 0.01 0.1 0.4 0.1322 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671671 NA NA 0.132932 0.343947 NA 0.203 NA 6.2554346 1034 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 1035 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 1035 19 14877043 14877043 C T intronic EMR2 NA NA NA intronic ENSG00000127507 NA NA NA NA NA 19p13.12 NA NA NA NA rs2074892 0.3 0.3 0.308 0.288538 0.2734 0.2252 0.1945 0.4977 0.1534 0.27 0.21 0.22 0.5 0.2363 0.5 . . . . . . . . 1.000 P . . . . -0.904 T 0.000 T . 0.631 7.391 -4.25 -0.759 -0.975 0.995 0.630809 NA 0.46 0.236512 0.437358 NA 0.268 NA 6.253788 1035 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 1035 5 35871273 35871273 C T exonic IL7R NA synonymous SNV IL7R:NM_002185:exon4:c.C495T:p.H165H exonic ENSG00000168685 NA synonymous SNV ENSG00000168685:ENST00000303115:exon4:c.C495T:p.H165H,ENSG00000168685:ENST00000343305:exon4:c.C495T:p.H165H,ENSG00000168685:ENST00000506850:exon4:c.C495T:p.H165H,ENSG00000168685:ENST00000514217:exon4:c.C495T:p.H165H Score=391;Name=lod=52 NA 5p13.2 NA NA NA NA rs2228141 0.13 0.13 0.133 0.128594 0.1441 0.1528 0.1657 0.1278 0.0624 0.13 0.14 0.14 0.12 0.1268 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025941 NA NA 0.142209 0.121198 NA 0.072 NA 6.2535576 1035 5 60982841 60982841 G A exonic C5orf64 NA nonsynonymous SNV C5orf64:NM_173667:exon3:c.G169A:p.A57T exonic ENSG00000178722 NA nonsynonymous SNV ENSG00000178722:ENST00000313303:exon2:c.G169A:p.A57T,ENSG00000178722:ENST00000505642:exon3:c.G169A:p.A57T NA NA 5q12.1 NA NA NA NA rs16893687 0.46 0.46 0.452 0.495607 0.336 0.6458 0.4914 0.4486 0.5716 0.34 0.7 0.43 0.42 0.4214 0.7 1 T 0.0 B 0.0 B 0.382 N 1.000 P -0.345 N 1.14 T -0.945 T 0.000 T 0.013 0.577 7.117 0.845 -0.253 0.102 3.240 0.577093 NA 1 0.322717 0.43494 NA 0.362 NA 6.2532164 1035 12 113537773 113537773 C T exonic RASAL1 NA synonymous SNV RASAL1:NM_001193521:exon21:c.G2292A:p.Q764Q,RASAL1:NM_001193520:exon22:c.G2382A:p.Q794Q,RASAL1:NM_004658:exon22:c.G2376A:p.Q792Q exonic ENSG00000111344 NA synonymous SNV ENSG00000111344:ENST00000446861:exon21:c.G2292A:p.Q764Q,ENSG00000111344:ENST00000548055:exon21:c.G2379A:p.Q793Q,ENSG00000111344:ENST00000261729:exon22:c.G2376A:p.Q792Q,ENSG00000111344:ENST00000546530:exon22:c.G2382A:p.Q794Q Score=426;Name=lod=72 NA 12q24.13 NA NA NA NA rs12422659 0.07 0.07 0.075 0.0621006 0.1521 NA 0.0865 0.031 0.0583 0.16 NA 0.08 0.03 0.113 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.209693 NA NA 0.148372 0.052882 NA 0.051 NA 6.2531946 1035 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 1035 18 77894844 77894844 G A exonic ADNP2 NA synonymous SNV ADNP2:NM_014913:exon4:c.G1548A:p.P516P exonic ENSG00000101544 NA synonymous SNV ENSG00000101544:ENST00000262198:exon4:c.G1548A:p.P516P NA NA 18q23 Score=842;Name=V$GRE_C NA Name=4 NA rs3744877 0.44 0.44 0.418 0.41873 0.4771 0.5764 0.5086 0.1528 0.4918 0.49 0.56 0.51 0.16 0.461 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.266623 NA NA 0.476279 0.204267 NA 0.355 NA 6.2522876 1035 11 103052558 103052558 T C exonic DYNC2H1 NA synonymous SNV DYNC2H1:NM_001080463:exon40:c.T6420C:p.N2140N,DYNC2H1:NM_001377:exon40:c.T6420C:p.N2140N exonic ENSG00000187240 NA synonymous SNV ENSG00000187240:ENST00000375735:exon40:c.T6420C:p.N2140N,ENSG00000187240:ENST00000398093:exon40:c.T6420C:p.N2140N Score=586;Name=lod=322 NA 11q22.3 NA NA NA NA rs11225584 0.14 0.14 0.133 0.134185 0.1123 0.2312 0.0922 0.0726 0.1697 0.12 0.24 0.09 0.08 0.1961 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357165 NA NA 0.106428 0.075281 NA 0.152 NA 6.2518386 1035 12 6631169 6631169 C A exonic NCAPD2 NA synonymous SNV NCAPD2:NM_014865:exon15:c.C1920A:p.I640I exonic ENSG00000010292 NA synonymous SNV ENSG00000010292:ENST00000382457:exon12:c.C1536A:p.I512I,ENSG00000010292:ENST00000545962:exon14:c.C1785A:p.I595I,ENSG00000010292:ENST00000315579:exon15:c.C1920A:p.I640I Score=507;Name=lod=153 NA 12p13.31 Score=855;Name=V$CREB_02 NA NA NA rs917634 0.54 0.54 0.552 0.53155 0.4742 0.5704 0.6225 0.5961 0.3988 0.47 0.57 0.58 0.59 0.4855 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.564408 NA NA 0.455233 0.582388 NA 0.572 NA 6.2517336 1035 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 1035 19 18545786 18545786 G T exonic ISYNA1 NA synonymous SNV ISYNA1:NM_001253389:exon8:c.C1230A:p.T410T,ISYNA1:NM_001170938:exon10:c.C1452A:p.T484T,ISYNA1:NM_016368:exon11:c.C1614A:p.T538T exonic ENSG00000105655 NA synonymous SNV ENSG00000105655:ENST00000545187:exon8:c.C1164A:p.T388T,ENSG00000105655:ENST00000578963:exon8:c.C1230A:p.T410T,ENSG00000105655:ENST00000317018:exon10:c.C1008A:p.T336T,ENSG00000105655:ENST00000457269:exon10:c.C1452A:p.T484T,ENSG00000105655:ENST00000338128:exon11:c.C1614A:p.T538T NA NA 19p13.11 Score=785;Name=V$ROAZ_01 NA NA NA rs1045631 0.2 0.2 0.175 NA NA NA NA NA NA 0.21 0.17 0.25 0.2 0.2124 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076438 NA NA 0.20307 0.235361 NA 0.196 NA 6.2511966 1035 9 74360209 74360209 G C exonic TMEM2 NA synonymous SNV TMEM2:NM_001135820:exon4:c.C759G:p.P253P,TMEM2:NM_013390:exon4:c.C759G:p.P253P exonic ENSG00000135048 NA synonymous SNV ENSG00000135048:ENST00000377044:exon4:c.C759G:p.P253P,ENSG00000135048:ENST00000377066:exon4:c.C759G:p.P253P,ENSG00000135048:ENST00000542935:exon4:c.C759G:p.P253P NA NA 9q21.13 Score=981;Name=V$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 1035 8 20038466 20038466 T G exonic SLC18A1 NA nonsynonymous SNV SLC18A1:NM_003053:exon2:c.A10C:p.T4P,SLC18A1:NM_001135691:exon3:c.A10C:p.T4P,SLC18A1:NM_001142324:exon3:c.A10C:p.T4P,SLC18A1:NM_001142325:exon3:c.A10C:p.T4P exonic ENSG00000036565 NA nonsynonymous SNV ENSG00000036565:ENST00000381608:exon1:c.A10C:p.T4P,ENSG00000036565:ENST00000276373:exon2:c.A10C:p.T4P,ENSG00000036565:ENST00000517776:exon2:c.A10C:p.T4P,ENSG00000036565:ENST00000519026:exon2:c.A10C:p.T4P,ENSG00000036565:ENST00000522513:exon2:c.A10C:p.T4P,ENSG00000036565:ENST00000265808:exon3:c.A10C:p.T4P,ENSG00000036565:ENST00000437980:exon3:c.A10C:p.T4P,ENSG00000036565:ENST00000440926:exon3:c.A10C:p.T4P NA NA 8p21.3 NA NA NA NA rs2270641 0.27 0.27 0.245 0.246206 0.3638 0.248 0.3012 0.1029 0.2781 0.35 0.27 0.31 0.13 0.3596 0.36 0.28 T 0.167 B 0.029 B 0.808 N 1.000 P 0 N 3.93 T -0.908 T 0.000 T 0.166 0.639 7.431 0.564 -0.183 -0.897 8.823 0.638805 NA 0.08 0.359171 0.155909 ID=COSM330538;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.37 NA 6.2507624 1035 6 170626943 170626943 T C exonic FAM120B NA synonymous SNV FAM120B:NM_032448:exon2:c.T465C:p.S155S exonic ENSG00000112584 NA synonymous SNV ENSG00000112584:ENST00000366751:exon2:c.T465C:p.S155S,ENSG00000112584:ENST00000476287:exon2:c.T465C:p.S155S,ENSG00000112584:ENST00000537664:exon2:c.T534C:p.S178S,ENSG00000112584:ENST00000540480:exon2:c.T501C:p.S167S NA NA 6q27 NA NA Name=20 NA rs3800266 0.17 0.17 0.156 0.159545 0.1252 0.2817 0.2046 0.0749 0.1513 0.13 0.28 0.17 0.1 0.15 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.189907 NA NA 0.141163 0.095552 NA 0.101 NA 6.2503036 1035 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 1035 17 18148485 18148485 G A exonic FLII NA synonymous SNV FLII:NM_001256265:exon29:c.C3612T:p.H1204H,FLII:NM_001256264:exon30:c.C3744T:p.H1248H,FLII:NM_002018:exon30:c.C3777T:p.H1259H exonic ENSG00000177731 NA nonsynonymous SNV ENSG00000177731:ENST00000578558:exon17:c.C2006T:p.T669M Score=599;Name=lod=363 NA 17p11.2 NA NA NA NA rs7498 0.28 0.28 0.27 0.255591 0.2435 0.3204 0.2622 0.2882 0.1524 0.25 0.3 0.25 0.31 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 2.367428 2.367428 NA 0.251977 0.275306 NA 0.275 NA 6.250023 1035 19 56895496 56895496 C T exonic ZNF582 NA synonymous SNV ZNF582:NM_144690:exon5:c.G1290A:p.K430K exonic ENSG00000018869 NA synonymous SNV ENSG00000018869:ENST00000301310:exon5:c.G1290A:p.K430K,ENSG00000018869:ENST00000586929:exon5:c.G1290A:p.K430K NA NA 19q13.43 NA NA Name=31 NA rs12978696 0.17 0.17 0.155 0.158546 0.1382 0.3095 0.0965 0.1029 0.1431 0.15 0.28 0.1 0.13 0.1513 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212912 NA NA 0.127209 0.105765 NA 0.167 NA 6.2499576 1035 19 1912986 1912986 C T exonic ADAT3 NA synonymous SNV ADAT3:NM_138422:exon2:c.C940T:p.L314L exonic ENSG00000213638 NA synonymous SNV ENSG00000213638:ENST00000329478:exon2:c.C940T:p.L314L,ENSG00000213638:ENST00000602400:exon2:c.C892T:p.L298L Score=513;Name=lod=162 NA 19p13.3 NA NA NA NA rs76159002 0.23 0.23 0.173 0.237021 0.1392 0.2252 0.2594 0.3207 0.2209 0.15 0.25 0.26 0.31 0.172 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.98351 NA NA 0.105563 0.305719 ID=COSM1318350;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.167 NA 6.2499036 1035 14 22038210 22038210 G T exonic OR10G3 NA synonymous SNV OR10G3:NM_001005465:exon1:c.C666A:p.I222I exonic ENSG00000169208 NA synonymous SNV ENSG00000169208:ENST00000303532:exon1:c.C666A:p.I222I Score=259;Name=lod=15 NA 14q11.2 NA NA NA NA rs17792766 0.11 0.11 0.118 0.096246 0.1541 0.005 0.072 0.1626 0.0583 0.15 0.01 0.08 0.18 0.1121 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.732052 NA NA 0.15093 0.152746 NA 0.138 NA 6.2495366 1035 8 142506436 142506436 C T exonic MROH5 NA unknown UNKNOWN exonic ENSG00000226807 NA synonymous SNV ENSG00000226807:ENST00000521161:exon1:c.G141A:p.G47G Score=355;Name=lod=37 NA 8q24.3 NA NA NA NA rs78443189 0.01 0.01 0.009 0.0081869 0.0268 NA 0.013 0.0015 0.0031 0.03 NA 0.01 0.002 0.0262 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 -0.743466 NA NA 0.031081 0.006719 NA 0.029 NA 6.2492523 1035 1 147124310 147124310 T G exonic ACP6 NA synonymous SNV ACP6:NM_016361:exon7:c.A823C:p.R275R exonic ENSG00000162836 NA synonymous SNV ENSG00000162836:ENST00000369238:exon7:c.A823C:p.R275R NA NA 1q21.2 Score=811;Name=V$GFI1_01 Name=ERalpha_a NA NA rs2153463 0.74 0.74 0.726 NA NA NA NA NA NA 0.72 0.74 0.75 0.77 0.7107 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 -1.238155 NA NA 0.707209 0.761689 NA 0.768 NA 6.2487576 1035 X 11316742 11316742 C T exonic AMELX NA synonymous SNV AMELX:NM_182681:exon4:c.C171T:p.H57H,AMELX:NM_001142:exon5:c.C219T:p.H73H,AMELX:NM_182680:exon6:c.C261T:p.H87H exonic ENSG00000125363 NA synonymous SNV ENSG00000125363:ENST00000348912:exon4:c.C171T:p.H57H,ENSG00000125363:ENST00000380714:exon5:c.C219T:p.H73H,ENSG00000125363:ENST00000380712:exon6:c.C261T:p.H87H Score=630;Name=lod=484 NA Xp22.2 NA NA NA NA rs2106416 0.17 0.17 0.17647 NA NA NA NA NA NA 0.23 0.02 0.12 0.3 0.1998 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71246 NA NA 0.219233 0.290482 NA 0.159 NA 6.2476336 1035 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$OLF1_01 NA NA NA rs586194 0.48 0.48 0.516 0.489217 0.4672 0.1409 0.438 0.9168 0.3292 0.47 0.16 0.43 0.92 0.4764 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.593953 NA NA 0.475814 0.845665 NA 0.616 NA 6.2472526 1035 1 53250650 53250650 G A exonic ZYG11B NA synonymous SNV ZYG11B:NM_024646:exon5:c.G1194A:p.G398G exonic ENSG00000162378 NA synonymous SNV ENSG00000162378:ENST00000294353:exon5:c.G1194A:p.G398G,ENSG00000162378:ENST00000443756:exon5:c.G1194A:p.G398G,ENSG00000162378:ENST00000545132:exon5:c.G1194A:p.G398G Score=618;Name=lod=435 NA 1p32.3 Score=671;Name=V$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 1035 1 236702210 236702210 A G exonic LGALS8 NA nonsynonymous SNV LGALS8:NM_201544:exon4:c.A166G:p.M56V,LGALS8:NM_006499:exon5:c.A166G:p.M56V,LGALS8:NM_201543:exon5:c.A166G:p.M56V,LGALS8:NM_201545:exon5:c.A166G:p.M56V exonic ENSG00000116977 NA nonsynonymous SNV ENSG00000116977:ENST00000434231:exon3:c.A77G:p.H26R,ENSG00000116977:ENST00000525042:exon3:c.A166G:p.M56V,ENSG00000116977:ENST00000238181:exon4:c.A166G:p.M56V,ENSG00000116977:ENST00000366584:exon4:c.A166G:p.M56V,ENSG00000116977:ENST00000416919:exon4:c.A166G:p.M56V,ENSG00000116977:ENST00000526634:exon4:c.A166G:p.M56V,ENSG00000116977:ENST00000527974:exon4:c.A166G:p.M56V,ENSG00000116977:ENST00000341872:exon5:c.A166G:p.M56V,ENSG00000116977:ENST00000352231:exon5:c.A166G:p.M56V,ENSG00000116977:ENST00000430527:exon5:c.A166G:p.M56V,ENSG00000116977:ENST00000450372:exon5:c.A166G:p.M56V,ENSG00000116977:ENST00000481485:exon5:c.A166G:p.M56V,ENSG00000116977:ENST00000454943:exon6:c.A166G:p.M56V,ENSG00000116977:ENST00000406509:exon7:c.A166G:p.M56V,ENSG00000116977:ENST00000526589:exon7:c.A166G:p.M56V Score=450;Name=lod=90 NA 1q43 NA NA NA NA rs1041937 0.59 0.59 0.632 0.630391 0.7048 0.6577 0.6311 0.6657 0.4775 0.57 0.6 0.58 0.61 0.6754 0.71 1 T 0.0 B 0.001 B 0.617 N 0.000 P -0.81 N 3.53 T -0.993 T 0.000 T 0.231 -0.471 1.826 1.99 0.014 -0.006 4.361 -0.470962 NA 1 0.706628 0.679755 ID=COSM146352;OCCURENCE=1(stomach) 0.196 NA 6.2465054 1035 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 1035 9 101804329 101804329 T C exonic COL15A1 NA synonymous SNV COL15A1:NM_001855:exon24:c.T2514C:p.G838G exonic ENSG00000204291 NA synonymous SNV ENSG00000204291:ENST00000375001:exon24:c.T2514C:p.G838G Score=463;Name=lod=102 NA 9q22.33 NA NA NA NA rs7854112 0.15 0.15 0.133 0.150359 0.1481 0.1736 0.1441 0.0817 0.226 0.15 0.19 0.14 0.11 0.1381 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 1.730614 1.730614 NA 0.134767 0.087381 NA 0.072 NA 6.2456996 1035 19 12576049 12576049 G A exonic ZNF709 NA synonymous SNV ZNF709:NM_152601:exon4:c.C687T:p.C229C exonic ENSG00000196826,ENSG00000242852 NA synonymous SNV ENSG00000242852:ENST00000397732:exon4:c.C687T:p.C229C,ENSG00000196826:ENST00000428311:exon4:c.C687T:p.C229C Score=343;Name=lod=33 NA 19p13.2 NA Name=SETDB1,KAP1,ZNF274 NA NA rs7259240 0.33 0.33 0.272 0.285942 0.496 0.1171 0.428 0.233 0.2147 0.5 0.1 0.44 0.23 0.4224 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.829614 NA NA 0.503023 0.269914 NA 0.377 NA 6.2452436 1036 17 4693054 4693054 G A exonic GLTPD2 NA synonymous SNV GLTPD2:NM_001014985:exon4:c.G339A:p.E113E exonic ENSG00000182327 NA synonymous SNV ENSG00000182327:ENST00000331264:exon4:c.G339A:p.E113E Score=472;Name=lod=110 NA 17p13.2 NA Name=TAF1 NA NA rs12951761 0.54 0.54 0.58 0.51258 0.4722 0.4494 0.5216 0.7557 0.2843 0.45 0.49 0.51 0.75 0.4717 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 0.236998 NA NA 0.477788 0.69826 NA 0.601 NA 6.2449786 1036 1 24409165 24409165 C T exonic MYOM3 NA synonymous SNV MYOM3:NM_152372:exon17:c.G2010A:p.E670E exonic ENSG00000142661 NA synonymous SNV ENSG00000142661:ENST00000329601:exon17:c.G2010A:p.E670E,ENSG00000142661:ENST00000330966:exon17:c.G2013A:p.E671E,ENSG00000142661:ENST00000374434:exon17:c.G2010A:p.E670E Score=471;Name=lod=109 NA 1p36.11 NA NA NA NA rs4320728 0.15 0.15 0.154 0.184505 0.1332 0.1925 0.1398 0.1929 0.2495 0.13 0.19 0.14 0.15 0.1593 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 1.183482 NA NA 0.129216 0.154181 NA 0.217 NA 6.2449506 1036 19 58004346 58004346 G C exonic ZNF419 NA nonsynonymous SNV ZNF419:NM_001098495:exon3:c.G286C:p.E96Q,ZNF419:NM_001098496:exon3:c.G283C:p.E95Q,ZNF419:NM_001098492:exon4:c.G385C:p.E129Q,ZNF419:NM_001098493:exon4:c.G382C:p.E128Q,ZNF419:NM_001098494:exon4:c.G325C:p.E109Q,ZNF419:NM_001098491:exon5:c.G424C:p.E142Q,ZNF419:NM_024691:exon5:c.G421C:p.E141Q exonic ENSG00000105136 NA nonsynonymous SNV ENSG00000105136:ENST00000415379:exon3:c.G283C:p.E95Q,ENSG00000105136:ENST00000521754:exon3:c.G286C:p.E96Q,ENSG00000105136:ENST00000347466:exon4:c.G325C:p.E109Q,ENSG00000105136:ENST00000354197:exon4:c.G385C:p.E129Q,ENSG00000105136:ENST00000426954:exon4:c.G385C:p.E129Q,ENSG00000105136:ENST00000442920:exon4:c.G382C:p.E128Q,ENSG00000105136:ENST00000521137:exon4:c.G322C:p.E108Q,ENSG00000105136:ENST00000221735:exon5:c.G421C:p.E141Q,ENSG00000105136:ENST00000424930:exon5:c.G424C:p.E142Q NA NA 19q13.43 NA NA NA NA rs2074076 0.68 0.68 0.677 0.695687 0.6839 0.6984 0.7262 0.5794 0.8405 0.68 0.72 0.71 0.59 0.7111 0.72 0.42 T 0.867 P 0.463 P . . 1.000 P 1.09 L 6.97 T -1.070 T 0.000 T 0.103 -0.258 2.762 0.261 0.353 0.923 6.075 -0.257605 NA 0.22 0.693837 0.59419 NA 0.703 NA 6.2444964 1036 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 1036 1 24416133 24416133 C T exonic MYOM3 NA synonymous SNV MYOM3:NM_152372:exon14:c.G1509A:p.P503P exonic ENSG00000142661 NA synonymous SNV ENSG00000142661:ENST00000329601:exon14:c.G1509A:p.P503P,ENSG00000142661:ENST00000330966:exon14:c.G1512A:p.P504P,ENSG00000142661:ENST00000374434:exon14:c.G1509A:p.P503P Score=278;Name=lod=18 NA 1p36.11 NA NA NA NA rs4276859 0.14 0.14 0.149 0.173922 0.1143 0.1845 0.1254 0.1876 0.2403 0.11 0.17 0.13 0.16 0.2006 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.415105 NA NA 0.10751 0.152238 ID=COSM1340817;OCCURENCE=1(large_intestine) 0.196 NA 6.2442566 1036 15 24922230 24922230 C G exonic NPAP1 NA nonsynonymous SNV NPAP1:NM_018958:exon1:c.C1216G:p.Q406E exonic ENSG00000185823 NA nonsynonymous SNV ENSG00000185823:ENST00000329468:exon1:c.C1216G:p.Q406E NA NA 15q11.2 NA NA NA NA rs3742950 0.5 0.5 0.527 0.525759 0.3559 0.4742 0.353 0.8865 0.3885 0.38 0.45 0.35 0.88 0.3993 0.88 0.66 T 0.0 B 0.0 B 0.035 N 1.000 P -0.895 N 3.51 T -1.014 T 0.000 T 0.019 -2.282 0.004 -0.437 -0.475 -0.565 9.397 -2.281677 NA 1 0.334767 0.790513 NA 0.457 NA 6.2433664 1036 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 1036 19 52937339 52937339 G A exonic ZNF534 NA synonymous SNV ZNF534:NM_001143939:exon2:c.G147A:p.E49E exonic ENSG00000198633 NA synonymous SNV ENSG00000198633:ENST00000332323:exon2:c.G147A:p.E49E Score=278;Name=lod=18 NA 19q13.41 NA NA NA NA rs17780173 0.24 0.24 0.22 0.249201 0.1282 0.4772 0.2579 0.1165 0.3119 0.14 0.49 0.22 0.11 0.1846 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791062 NA NA 0.110972 0.134566 NA 0.159 NA 6.2428946 1036 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 1036 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 1036 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$YY1_02 NA NA NA rs1126757 0.43 0.43 0.379 0.394369 0.4722 0.7093 0.4452 0.0234 0.455 0.49 0.7 0.41 0.04 0.4829 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345607 NA NA 0.469419 0.095325 NA 0.348 NA 6.2421476 1036 14 35546373 35546373 T C exonic FAM177A1 NA synonymous SNV FAM177A1:NM_173607:exon3:c.T357C:p.G119G,FAM177A1:NM_001079519:exon5:c.T288C:p.G96G exonic ENSG00000151327 NA synonymous SNV ENSG00000151327:ENST00000554794:exon2:c.T192C:p.G64G,ENSG00000151327:ENST00000280987:exon3:c.T357C:p.G119G,ENSG00000151327:ENST00000382406:exon4:c.T288C:p.G96G,ENSG00000151327:ENST00000396472:exon5:c.T288C:p.G96G Score=620;Name=lod=440 NA 14q13.2 NA NA NA NA rs3211139 0.12 0.12 0.133 0.141174 0.1272 0.0327 0.1066 0.2292 0.1728 0.13 0.04 0.1 0.23 0.145 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.516542 NA NA 0.152558 0.216296 NA 0.152 NA 6.2419086 1036 6 1742794 1742794 A G exonic GMDS NA synonymous SNV GMDS:NM_001253846:exon8:c.T708C:p.D236D,GMDS:NM_001500:exon8:c.T798C:p.D266D exonic ENSG00000112699 NA synonymous SNV ENSG00000112699:ENST00000380815:exon8:c.T798C:p.D266D,ENSG00000112699:ENST00000530927:exon8:c.T708C:p.D236D Score=582;Name=lod=309 NA 6p25.3 Score=867;Name=V$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 1036 19 815086 815086 A G intronic LPPR3 NA NA NA intronic ENSG00000129951 NA NA NA NA NA 19p13.3 NA Name=Pol2-4H8,Pol2 Name=10 NA rs351988 0.64 0.64 0.61 0.671126 0.5835 0.4494 0.696 0.9418 0.6063 0.58 0.44 0.69 0.94 0.6045 0.94 . . . . . . . . 1.000 P . . . . . . . . . 0.88 8.571 -1.1 -1.196 -0.279 4.332 0.879953 NA NA 0.570631 0.888434 NA 0.783 NA 6.241369 1036 9 139328551 139328551 T C exonic INPP5E NA synonymous SNV INPP5E:NM_019892:exon3:c.A972G:p.P324P exonic ENSG00000148384 NA synonymous SNV ENSG00000148384:ENST00000371712:exon3:c.A972G:p.P324P NA NA 9q34.3 NA NA NA NA rs10870199 0.12 0.12 0.081 0.123802 0.1292 0.1587 0.245 0.0068 0.1544 0.13 0.14 0.2 0.01 0.1596 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.86495 NA NA 0.136522 0.03071 NA 0.072 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117276.2|RCV000125422.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.2413446 1036 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 1036 5 140347398 140347398 C T exonic PCDHAC2 NA synonymous SNV PCDHAC2:NM_018899:exon1:c.C1047T:p.C349C,PCDHAC2:NM_031883:exon1:c.C1047T:p.C349C exonic ENSG00000243232 NA synonymous SNV ENSG00000243232:ENST00000289269:exon1:c.C1047T:p.C349C Score=489;Name=lod=130 NA 5q31.3 NA NA NA NA rs12153295 0.1 0.1 0.096 0.0760783 0.1451 0.0188 0.1254 0.0514 0.0624 0.16 0.03 0.14 0.08 0.1246 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025115 NA NA 0.156977 0.076714 NA 0.072 NA 6.2399896 1036 5 180377331 180377331 T C exonic BTNL8 NA synonymous SNV BTNL8:NM_001159707:exon7:c.T942C:p.Y314Y,BTNL8:NM_001159710:exon7:c.T738C:p.Y246Y,BTNL8:NM_001040462:exon8:c.T1290C:p.Y430Y,BTNL8:NM_001159709:exon8:c.T915C:p.Y305Y exonic ENSG00000113303 NA synonymous SNV ENSG00000113303:ENST00000505126:exon7:c.T669C:p.Y223Y,ENSG00000113303:ENST00000511704:exon7:c.T942C:p.Y314Y,ENSG00000113303:ENST00000533815:exon7:c.T738C:p.Y246Y,ENSG00000113303:ENST00000340184:exon8:c.T1290C:p.Y430Y,ENSG00000113303:ENST00000400707:exon8:c.T915C:p.Y305Y Score=304;Name=lod=23 NA 5q35.3 NA NA NA NA rs2278689 0.24 0.24 0.285 0.248802 0.1163 0.1171 0.1182 0.5787 0.1677 0.12 0.11 0.14 0.64 0.1694 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.726695 NA NA 0.141954 0.534859 NA 0.225 NA 6.2390126 1036 5 150639439 150639439 A G exonic GM2A NA nonsynonymous SNV GM2A:NM_000405:exon2:c.A205G:p.M69V,GM2A:NM_001167607:exon2:c.A205G:p.M69V exonic ENSG00000196743 NA nonsynonymous SNV ENSG00000196743:ENST00000357164:exon2:c.A205G:p.M69V,ENSG00000196743:ENST00000523466:exon3:c.A250G:p.M84V NA NA 5q33.1 NA NA NA NA rs153478 0.82 0.82 0.809 0.860224 0.675 1 0.8112 0.8654 0.9346 0.67 1 0.79 0.84 0.7623 1 0.31 T 0.0 B 0.0 B 0.623 N 1.000 P -1.15 N -0.38 T -0.995 T 0.000 T 0.251 0.455 6.468 -2.41 -0.846 0.529 1.215 0.454547 NA 0.46 0.657209 0.851112 NA 0.826 NA 6.2388244 1036 17 79596811 79596811 C T exonic NPLOC4 NA synonymous SNV NPLOC4:NM_017921:exon2:c.G36A:p.P12P exonic ENSG00000182446 NA synonymous SNV ENSG00000182446:ENST00000331134:exon2:c.G36A:p.P12P,ENSG00000182446:ENST00000374747:exon2:c.G36A:p.P12P,ENSG00000182446:ENST00000574897:exon2:c.G36A:p.P12P Score=569;Name=lod=273 Name=Eye color traits 17q25.3 NA NA NA NA rs9894429 0.62 0.62 0.604 0.674121 0.4115 0.7768 0.6758 0.8147 0.6472 0.41 0.78 0.62 0.77 0.555 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 0.295342 NA NA 0.461824 0.75747 NA 0.616 NA 6.2383426 1036 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 1036 1 212965237 212965237 G C UTR5 TATDN3 NM_001042553:c.-27G>C,NM_001042552:c.-27G>C,NM_001146171:c.-27G>C,NM_001146170:c.-27G>C,NM_001146169:c.-27G>C NA NA UTR5 ENSG00000203705 ENST00000366974:c.-27G>C,ENST00000532324:c.-27G>C,ENST00000530441:c.-27G>C,ENST00000526641:c.-27G>C,ENST00000366973:c.-27G>C,ENST00000531963:c.-27G>C NA NA NA NA 1q32.3 NA Name=Pol2,FOXA1_(C-20),FOSL2,USF-1,USF1_(SC-8983),HA-E2F1,CHD2_(N-1250),p300,TCF12,HDAC2_(SC-6296),E2F6,POU2F2,MafK_(ab50322),GTF2B,CTCF,HMGN3,RFX5_(N-494),ZEB1_(SC-25388),c-Jun,TAF1,IRF4_(M-17),NFKB,Znf143_(16618-1-AP),BCL3,EBF1_(C-8),eGFP-JunB,Pol2-4H8,MEF2A,GABP,HEY1,STAT1,ELF1_(SC-631),HNF4G_(SC-6558),ETS1,ZZZ3,GATA-1,BCLAF1_(M33-P5B11),Max,TCF4,YY1_(C-20),c-Myc,Rad21,Oct-2,SRF,SP1,TAL1_(SC-12984),IRF1,p300_(N-15),GATA3_(SC-268),Sin3Ak-20,BAF170,RXRA,E2F4,SIX5,eGFP-JunD,MEF2C_(SC-13268),PAX5-C20,Mxi1_(bHLH),NRSF,ELK4,Pol2(b),TBP,CCNT2,Egr-1,TR4,BRCA1_(C-1863),WHIP,YY1,NANOG_(SC-33759),CEBPB,HNF4A_(H-171),ZNF263,GR,GTF2F1_(RAP-74),STAT2,JunD,BAF155,SMC3_(ab9263) Name=148 NA rs3738799 0.02 0.02 0.019 0.0201677 0.0368 0.0119 0.0202 0.0008 0.0378 0.03 0.02 0.02 0.0041 0.0284 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 0.236233 NA NA 0.030515 0.005462 NA 0.014 NA 6.2376184 1036 16 24888593 24888593 A G exonic SLC5A11 NA synonymous SNV SLC5A11:NM_001258412:exon6:c.A282G:p.A94A,SLC5A11:NM_001258411:exon7:c.A387G:p.A129A,SLC5A11:NM_001258413:exon7:c.A300G:p.A100A,SLC5A11:NM_001258414:exon7:c.A300G:p.A100A,SLC5A11:NM_052944:exon7:c.A492G:p.A164A exonic ENSG00000158865 NA synonymous SNV ENSG00000158865:ENST00000568579:exon5:c.A282G:p.A94A,ENSG00000158865:ENST00000539472:exon6:c.A300G:p.A100A,ENSG00000158865:ENST00000545376:exon6:c.A282G:p.A94A,ENSG00000158865:ENST00000567758:exon6:c.A387G:p.A129A,ENSG00000158865:ENST00000569071:exon6:c.A300G:p.A100A,ENSG00000158865:ENST00000347898:exon7:c.A492G:p.A164A,ENSG00000158865:ENST00000424767:exon7:c.A387G:p.A129A,ENSG00000158865:ENST00000449109:exon7:c.A300G:p.A100A,ENSG00000158865:ENST00000565769:exon7:c.A300G:p.A100A Score=496;Name=lod=138 NA 16p12.1 NA NA NA NA rs8052587 0.12 0.12 0.117 0.138778 0.1531 NA 0.0965 0.23 0.1738 0.15 NA 0.11 0.23 0.1338 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.045098 NA NA 0.142558 0.203687 NA 0.094 NA 6.2372086 1036 1 212988540 212988540 G C UTR3 TATDN3 NM_001042553:c.*42G>C,NM_001042552:c.*42G>C,NM_001146171:c.*42G>C,NM_001146170:c.*42G>C,NM_001146169:c.*131G>C NA NA UTR3 ENSG00000203705 ENST00000366974:c.*42G>C,ENST00000532324:c.*42G>C,ENST00000526641:c.*42G>C,ENST00000366973:c.*42G>C,ENST00000531963:c.*131G>C,ENST00000526997:c.*175G>C,ENST00000525574:c.*596G>C,ENST00000527693:c.*175G>C NA NA NA NA 1q32.3 NA Name=SMC3_(ab9263),Rad21,CTCF_(SC-5916),CTCF_(C-20),CTCF Name=38 NA rs76268387 0.02 0.02 0.019 0.0201677 0.0368 0.0119 0.0202 0.0008 0.0378 0.03 0.02 0.02 0.0041 0.028 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 0.690125 NA NA 0.031512 0.005901 NA 0.014 NA 6.2370214 1036 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=Pol2,Pol2(phosphoS2),TAF7_(SQ-8),CTCF,HMGN3,TAF1,NFKB,Pol2-4H8,HEY1,ELF1_(SC-631),ETS1,YY1_(C-20),Sin3Ak-20,ELK4,Pol2(b),CCNT2,TBP,AP-2gamma,TR4,YY1,ZNF263 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 1036 7 925717 925717 G A exonic GET4 NA synonymous SNV GET4:NM_015949:exon2:c.G180A:p.T60T exonic ENSG00000164828,ENSG00000239857 NA synonymous SNV ENSG00000239857:ENST00000407192:exon1:c.G21A:p.T7T,ENSG00000239857:ENST00000265857:exon2:c.G180A:p.T60T,ENSG00000239857:ENST00000412734:exon2:c.G21A:p.T7T,ENSG00000239857:ENST00000441491:exon2:c.G216A:p.T72T NA NA 7p22.3 Score=738;Name=V$MYOGNF1_01 NA NA NA rs11543222 0.11 0.11 0.095 0.0938498 0.1501 0.001 0.1772 0.0983 0.0665 0.16 0.0017 0.19 0.1 0.1329 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 0.641873 NA NA 0.146895 0.09419 NA 0.232 NA 6.2367716 1036 19 15063757 15063757 A G exonic SLC1A6 NA synonymous SNV SLC1A6:NM_005071:exon8:c.T1482C:p.I494I exonic ENSG00000105143 NA synonymous SNV ENSG00000105143:ENST00000221742:exon8:c.T1482C:p.I494I,ENSG00000105143:ENST00000430939:exon8:c.T1290C:p.I430I,ENSG00000105143:ENST00000600144:exon8:c.T1248C:p.I416I Score=529;Name=lod=188 NA 19p13.12 NA NA NA NA rs2229896 0.27 0.27 0.256 0.252596 0.1421 0.3244 0.2118 0.4236 0.09 0.14 0.33 0.23 0.42 0.169 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.763201 NA NA 0.11907 0.376305 NA 0.232 NA 6.2364966 1036 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 1036 X 70146398 70146398 A G exonic SLC7A3 NA synonymous SNV SLC7A3:NM_001048164:exon10:c.T1599C:p.S533S,SLC7A3:NM_032803:exon10:c.T1599C:p.S533S exonic ENSG00000165349 NA synonymous SNV ENSG00000165349:ENST00000298085:exon10:c.T1599C:p.S533S,ENSG00000165349:ENST00000374299:exon10:c.T1599C:p.S533S Score=487;Name=lod=127 NA Xq13.1 Score=869;Name=V$P300_01 NA NA NA rs4360450 0.79 0.79 0.77266 NA NA NA NA NA NA 0.63 1 0.79 0.77 0.7852 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.663003 NA NA 0.645195 0.75881 NA 0.594 NA 6.2362716 1036 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 1036 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 1036 10 127737930 127737930 G A exonic ADAM12 NA synonymous SNV ADAM12:NM_003474:exon16:c.C1818T:p.P606P,ADAM12:NM_021641:exon16:c.C1818T:p.P606P exonic ENSG00000148848 NA synonymous SNV ENSG00000148848:ENST00000368676:exon16:c.C1818T:p.P606P,ENSG00000148848:ENST00000368679:exon16:c.C1818T:p.P606P NA NA 10q26.2 Score=929;Name=V$FOXJ2_01 NA NA NA rs2292692 0.12 0.12 0.119 0.123403 0.162 0.0278 0.1513 0.1256 0.1595 0.16 0.02 0.14 0.16 0.1341 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000866 NA NA 0.135 0.127553 NA 0.051 NA 6.2355666 1036 8 2832139 2832139 C G exonic CSMD1 NA synonymous SNV CSMD1:NM_033225:exon56:c.G8574C:p.S2858S exonic ENSG00000183117 NA synonymous SNV ENSG00000183117:ENST00000542608:exon55:c.G8400C:p.S2800S,ENSG00000183117:ENST00000400186:exon56:c.G8403C:p.S2801S,ENSG00000183117:ENST00000537824:exon56:c.G8574C:p.S2858S,ENSG00000183117:ENST00000602723:exon56:c.G8403C:p.S2801S,ENSG00000183117:ENST00000520002:exon57:c.G8577C:p.S2859S,ENSG00000183117:ENST00000602557:exon57:c.G8577C:p.S2859S NA NA 8p23.2 NA NA NA NA rs667595 0.79 0.79 0.795 0.750998 0.8231 0.8046 0.6614 0.7269 0.7178 0.82 0.83 0.69 0.76 0.7934 0.83 . . . . . . . . 0.000 P . . . . -1.042 T 0.000 T . -1.299 0.038 -11.6 -5.474 -2.838 4.382 -1.299225 NA NA 0.814743 0.767532 ID=COSM454404,COSM454405;OCCURENCE=1(breast) 0.812 NA 6.2354236 1036 15 64962630 64962630 A C exonic ZNF609 NA synonymous SNV ZNF609:NM_015042:exon3:c.A1059C:p.P353P exonic ENSG00000180357 NA synonymous SNV ENSG00000180357:ENST00000326648:exon3:c.A1059C:p.P353P Score=592;Name=lod=341 NA 15q22.31 Score=795;Name=V$COMP1_01 NA NA NA rs11633399 0.32 0.32 0.298 0.29393 0.5417 0.0565 0.3141 0.3215 0.2321 0.53 0.04 0.36 0.27 0.3956 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.165262 2.165262 NA 0.494068 0.348389 NA 0.362 NA 6.2352986 1036 15 52901433 52901433 C T exonic FAM214A NA nonsynonymous SNV FAM214A:NM_019600:exon6:c.G1678A:p.V560I exonic ENSG00000047346 NA nonsynonymous SNV ENSG00000047346:ENST00000399202:exon5:c.G1414A:p.V472I,ENSG00000047346:ENST00000546305:exon5:c.G1699A:p.V567I,ENSG00000047346:ENST00000261844:exon6:c.G1678A:p.V560I,ENSG00000047346:ENST00000534964:exon6:c.G1678A:p.V560I NA NA 15q21.3 NA NA NA NA rs12915981 0.46 0.46 0.434 0.4373 0.7445 0.1121 0.611 0.2746 0.5532 0.75 0.12 0.63 0.3 0.6249 0.75 0.21 T 0.0 B 0.0 B 0.259 N 1.000 P 0 N 1.59 T -1.026 T 0.000 T 0.107 -3.098 0.001 -0.639 -1.062 0.442 6.961 -3.098377 NA 0.76 0.72873 0.358974 NA 0.522 NA 6.2352034 1036 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 1037 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 1037 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 1037 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$NRSF_01 NA NA NA rs12967407 0.32 0.32 0.313 0.327676 0.501 0.0665 0.2882 0.292 0.4949 0.51 0.06 0.34 0.29 0.4343 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312856 NA NA 0.497791 0.316841 NA 0.377 NA 6.2335756 1037 10 100018844 100018844 G A exonic LOXL4 NA synonymous SNV LOXL4:NM_032211:exon6:c.C843T:p.H281H exonic ENSG00000138131 NA synonymous SNV ENSG00000138131:ENST00000260702:exon6:c.C843T:p.H281H NA NA 10q24.2 NA Name=c-Myc Name=33 NA rs7077073 0.51 0.51 0.479 0.501597 0.4473 0.752 0.6138 0.23 0.5869 0.46 0.74 0.53 0.28 0.5673 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.714011 NA NA 0.418837 0.268182 NA 0.435 NA 6.2332296 1037 11 8251921 8251921 G C exonic LMO1 NA synonymous SNV LMO1:NM_001270428:exon2:c.C153G:p.A51A,LMO1:NM_002315:exon2:c.C156G:p.A52A exonic ENSG00000166407 NA synonymous SNV ENSG00000166407:ENST00000335790:exon2:c.C156G:p.A52A,ENSG00000166407:ENST00000428101:exon2:c.C153G:p.A51A,ENSG00000166407:ENST00000534484:exon2:c.C123G:p.A41A Score=715;Name=lod=1071 NA 11p15.4 NA NA Name=7 NA rs3750952 0.34 0.34 0.309 0.333866 0.501 0.2857 0.4481 0.031 0.5399 0.48 0.32 0.49 0.05 0.4466 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.50053 1.50053 NA 0.485917 0.111995 NA 0.362 NA 6.2331496 1037 2 170099473 170099473 T C exonic LRP2 NA synonymous SNV LRP2:NM_004525:exon24:c.A3660G:p.A1220A exonic ENSG00000081479 NA synonymous SNV ENSG00000081479:ENST00000443831:exon22:c.A3249G:p.A1083A,ENSG00000081479:ENST00000263816:exon24:c.A3660G:p.A1220A NA NA 2q31.1 Score=836;Name=V$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 1037 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 1037 4 77057501 77057501 A G exonic NUP54 NA synonymous SNV NUP54:NM_017426:exon4:c.T360C:p.T120T exonic ENSG00000138750 NA synonymous SNV ENSG00000138750:ENST00000514987:exon3:c.T216C:p.T72T,ENSG00000138750:ENST00000264883:exon4:c.T360C:p.T120T Score=619;Name=lod=437 NA 4q21.1 NA NA NA NA rs11558468 0.17 0.17 0.156 0.154952 0.1312 0.3512 0.1282 0.0567 0.1288 0.13 0.35 0.13 0.06 0.1516 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.340951 1.340951 NA 0.151047 0.069905 NA 0.123 NA 6.2328196 1037 12 13214537 13214537 A G exonic KIAA1467 NA synonymous SNV KIAA1467:NM_020853:exon4:c.A561G:p.V187V exonic ENSG00000084444 NA synonymous SNV ENSG00000084444:ENST00000197268:exon4:c.A561G:p.V187V,ENSG00000084444:ENST00000416494:exon4:c.A561G:p.V187V Score=483;Name=lod=122 NA 12p13.1 NA Name=TAL1_(SC-12984),eGFP-GATA2,Pol2(b),GATA-2,GATA2_(CG2-96),GATA-1 Name=5 NA rs3741818 0.65 0.65 0.654 0.63139 0.827 0.502 0.7061 0.4735 0.7239 0.82 0.51 0.7 0.49 0.7503 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 1.216432 NA NA 0.856977 0.526328 NA 0.739 NA 6.2323896 1037 X 135313034 135313034 T G exonic MAP7D3 NA nonsynonymous SNV MAP7D3:NM_001173517:exon8:c.A1400C:p.E467A,MAP7D3:NM_001173516:exon9:c.A1451C:p.E484A,MAP7D3:NM_024597:exon9:c.A1505C:p.E502A exonic ENSG00000129680 NA nonsynonymous SNV ENSG00000129680:ENST00000370661:exon8:c.A1400C:p.E467A,ENSG00000129680:ENST00000316077:exon9:c.A1505C:p.E502A,ENSG00000129680:ENST00000370660:exon9:c.A1382C:p.E461A,ENSG00000129680:ENST00000370663:exon9:c.A1451C:p.E484A NA NA Xq26.3 NA NA NA NA rs1055497 0.57 0.57 0.55167 NA NA NA NA NA NA 0.57 0.71 0.53 0.44 0.5554 0.71 1 T 0.0 B 0.0 B 0.858 N 1.000 P -0.205 N 4.28 T -0.948 T 0.000 T 0.236 -1.16 0.095 1.03 -0.527 0.932 3.649 -1.160453 NA 1 0.545706 0.517029 NA 0.5 NA 6.2322274 1037 4 77055474 77055474 A G exonic NUP54 NA synonymous SNV NUP54:NM_017426:exon5:c.T564C:p.D188D exonic ENSG00000138750 NA synonymous SNV ENSG00000138750:ENST00000458189:exon4:c.T24C:p.D8D,ENSG00000138750:ENST00000514987:exon4:c.T420C:p.D140D,ENSG00000138750:ENST00000264883:exon5:c.T564C:p.D188D,ENSG00000138750:ENST00000342467:exon5:c.T24C:p.D8D Score=579;Name=lod=302 NA 4q21.1 NA NA NA NA rs11097244 0.17 0.17 0.166 0.155152 0.1312 0.3512 0.1297 0.0567 0.1288 0.13 0.35 0.13 0.06 0.1531 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.131512 NA NA 0.151163 0.069905 NA 0.116 NA 6.2312036 1037 6 80749972 80749972 A C exonic TTK NA synonymous SNV TTK:NM_001166691:exon20:c.A2364C:p.P788P,TTK:NM_003318:exon20:c.A2367C:p.P789P exonic ENSG00000112742 NA synonymous SNV ENSG00000112742:ENST00000230510:exon20:c.A2364C:p.P788P,ENSG00000112742:ENST00000369798:exon20:c.A2367C:p.P789P,ENSG00000112742:ENST00000509894:exon20:c.A2364C:p.P788P Score=451;Name=lod=91 NA 6q14.1 NA NA NA NA rs1801460 0.07 0.07 0.048 0.0738818 0.1412 0.0109 0.0937 0.0053 0.1483 0.13 0.01 0.11 0.01 0.1305 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122561 NA NA 0.16461 0.02861 NA 0.101 NA 6.2303566 1037 19 10426628 10426628 T C exonic FDX1L NA synonymous SNV FDX1L:NM_001031734:exon1:c.A45G:p.L15L exonic ENSG00000167807,ENSG00000267673 NA synonymous SNV ENSG00000267673:ENST00000393708:exon1:c.A45G:p.L15L,ENSG00000167807:ENST00000452032:exon1:c.A45G:p.L15L,ENSG00000267673:ENST00000541276:exon1:c.A54G:p.L18L NA NA 19p13.2 NA Name=Max,YY1_(C-20),c-Myc,NF-E2_(H-230),Oct-2,Nrf1,Sin3Ak-20,SIX5,PAX5-C20,Mxi1_(bHLH),PAX5-N19,Pol2(b),TBP,AP-2gamma,YY1,GTF2F1_(RAP-74),BHLHE40,Pol2,USF2,FOSL2,FOXA1_(C-20),USF-1,Pol2(phosphoS2),USF1_(SC-8983),HA-E2F1,CHD2_(N-1250),TAF7_(SQ-8),POU2F2,E2F6,E2F6_(H-50),HMGN3,TAF1,BCL3,NFKB,Znf143_(16618-1-AP),EBF1_(C-8),Pol2-4H8,GABP,HEY1,ELF1_(SC-631),ETS1,ATF3 Name=146 NA rs395782 0.46 0.46 0.498 0.492812 0.4771 0.3403 0.5576 0.6089 0.4632 0.46 0.35 0.49 0.59 0.4894 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74214 NA NA 0.470335 0.598137 ID=COSM438465;OCCURENCE=2(breast) 0.514 NA 6.2298316 1037 1 1425700 1425700 T C exonic ATAD3B NA synonymous SNV ATAD3B:NM_031921:exon14:c.T1401C:p.I467I exonic ENSG00000160072 NA synonymous SNV ENSG00000160072:ENST00000308647:exon14:c.T1401C:p.I467I Score=599;Name=lod=362 NA 1p36.33 NA NA NA NA rs819980 0.44 0.44 0.403 0.485823 0.0994 0.623 0.3357 0.8487 0.3579 0.11 0.64 0.32 0.83 0.2546 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 -1.013001 NA NA 0.083043 0.732062 ID=COSM423664;OCCURENCE=1(breast),1(large_intestine) 0.406 NA 6.2296236 1037 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=Rad21,CTCF 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 1037 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 1037 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 1037 5 135276814 135276814 G A exonic FBXL21 NA unknown UNKNOWN exonic ENSG00000164616 NA unknown UNKNOWN Score=436;Name=lod=79 NA 5q31.1 Score=827;Name=V$BACH1_01 NA NA NA rs2066913 0.23 0.23 0.206 0.249002 0.2565 0.2589 0.2262 0.1974 0.317 0.27 0.21 0.23 0.18 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 -0.901967 NA NA 0.255772 0.21318 NA 0.174 NA 6.229128 1037 19 12911926 12911926 C T intronic PRDX2 NA NA NA ncRNA_intronic ENSG00000267062 NA NA NA NA NA 19p13.2 NA Name=ZNF263,TCF4,ELF1_(SC-631),CTCF Name=11 NA rs10422248 0.06 0.06 0.052 0.0611022 0.0249 0.0119 0.0692 0.1558 0.0153 0.03 0.02 0.05 0.15 0.0472 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.602258 NA NA 0.032209 0.142987 NA 0.051 NA 6.2290243 1037 10 63520698 63520698 T C exonic C10orf107 NA synonymous SNV C10orf107:NM_173554:exon6:c.T489C:p.F163F exonic ENSG00000183346 NA synonymous SNV ENSG00000183346:ENST00000330194:exon6:c.T489C:p.F163F Score=417;Name=lod=66 NA 10q21.2 NA Name=STAT1 Name=117 NA rs1992625 0.86 0.86 0.85 0.872005 0.8022 0.9127 0.8948 0.8638 0.8967 0.8 0.9 0.86 0.88 0.8352 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 0.771605 NA NA 0.800419 0.853609 ID=COSM1128027;OCCURENCE=1(prostate) 0.804 NA 6.2288476 1037 11 5248243 5248243 A G exonic HBB NA synonymous SNV HBB:NM_000518:exon1:c.T9C:p.H3H exonic ENSG00000244734 NA synonymous SNV ENSG00000244734:ENST00000335295:exon1:c.T9C:p.H3H,ENSG00000244734:ENST00000380315:exon3:c.T9C:p.H3H Score=414;Name=lod=64 NA 11p15.4 NA Name=GATA-1,Pol2 NA NA rs713040 0.74 0.74 0.751 0.714257 0.83 0.504 0.7262 0.8835 0.5746 0.82 0.49 0.75 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 -0.839543 NA NA 0.840856 0.863925 NA 0.768 CLINSIG=other;CLNDBN=HEMOGLOBIN_OKAYAMA;CLNREVSTAT=single;CLNACC=RCV000016529.1;CLNDSDB=.;CLNDSDBID=. 6.2287106 1037 8 139165273 139165273 G A exonic FAM135B NA nonsynonymous SNV FAM135B:NM_015912:exon13:c.C1445T:p.P482L exonic ENSG00000147724 NA nonsynonymous SNV ENSG00000147724:ENST00000276737:exon13:c.C1445T:p.P482L,ENSG00000147724:ENST00000395297:exon13:c.C1445T:p.P482L NA NA 8q24.23 NA NA NA NA rs13280444 0.32 0.32 0.33 0.360224 0.3757 0.5298 0.415 0.1399 0.4284 0.31 0.47 0.3 0.18 0.387 0.47 0.76 T 0.001 B 0.003 B 0.060 N 1.000 P 1.87 L 2.54 T -0.911 T 0.000 T 0.039 0.113 4.611 0.762 0.073 0.461 3.465 0.113469 NA 0.37 0.341991 0.17805 NA NA NA 6.2286424 1037 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 1037 19 1049305 1049305 C A exonic ABCA7 NA synonymous SNV ABCA7:NM_019112:exon18:c.C2421A:p.V807V exonic ENSG00000064687 NA synonymous SNV ENSG00000064687:ENST00000435683:exon12:c.C2007A:p.V669V,ENSG00000064687:ENST00000433129:exon17:c.C2421A:p.V807V,ENSG00000064687:ENST00000263094:exon18:c.C2421A:p.V807V Score=452;Name=lod=92 NA 19p13.3 NA NA NA NA rs4147915 0.22 0.22 0.18 0.19988 0.1233 0.371 0.2752 0.1157 0.1626 0.12 0.41 0.27 0.09 0.1792 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.721183 NA NA 0.136691 0.122389 ID=COSM438474;OCCURENCE=1(breast) 0.152 NA 6.2274756 1037 1 165865478 165865478 G A exonic UCK2 NA synonymous SNV UCK2:NM_012474:exon4:c.G408A:p.G136G exonic ENSG00000143179 NA synonymous SNV ENSG00000143179:ENST00000367879:exon4:c.G408A:p.G136G Score=612;Name=lod=411 NA 1q24.1 NA NA NA NA rs11553301 0.09 0.09 0.073 0.0870607 0.1521 0.0823 0.0836 0.0348 0.0982 0.15 0.06 0.1 0.02 0.1351 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.556339 1.556339 NA 0.152093 0.046981 NA 0.072 NA 6.2273736 1037 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$OCT1_Q6 NA NA NA rs11548929 0.15 0.15 0.147 0.141973 0.1402 NA 0.0879 0.3684 0.0225 0.14 NA 0.09 0.38 0.1354 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332496 NA NA 0.16407 0.338402 NA 0.203 NA 6.2269966 1037 5 78373431 78373431 C T exonic BHMT2 NA synonymous SNV BHMT2:NM_001178005:exon2:c.C162T:p.D54D,BHMT2:NM_017614:exon2:c.C162T:p.D54D exonic ENSG00000132840 NA nonsynonymous SNV ENSG00000132840:ENST00000519743:exon3:c.C100T:p.R34C Score=426;Name=lod=72 NA 5q14.1 Score=896;Name=V$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 1037 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 1037 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 1038 5 125807911 125807911 T C intronic GRAMD3 NA NA NA ncRNA_intronic ENSG00000250602 NA NA NA NA NA 5q23.2 NA Name=HEY1,STAT3 Name=95 NA rs61486463 0.05 0.05 0.062 0.0495208 0.0398 0.0139 0.049 0.1089 0.0164 0.03 0.02 0.07 0.11 0.0364 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 0.834512 NA NA 0.032209 0.100091 NA 0.065 NA 6.2249243 1038 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=Mxi1_(bHLH),Pol2,Pol2-4H8 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 1038 11 120745874 120745874 C T exonic GRIK4 NA synonymous SNV GRIK4:NM_014619:exon9:c.C1086T:p.H362H exonic ENSG00000149403 NA synonymous SNV ENSG00000149403:ENST00000438375:exon10:c.C1086T:p.H362H,ENSG00000149403:ENST00000527524:exon11:c.C1086T:p.H362H Score=670;Name=lod=706 NA 11q23.3 NA NA NA NA rs2230297 0.22 0.22 0.218 0.232628 0.1262 0.4593 0.1513 0.1536 0.273 0.13 0.47 0.14 0.14 0.1804 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.168984 NA NA 0.13538 0.165229 NA 0.181 NA 6.2246866 1038 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 1038 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 1038 6 137519588 137519588 A C exonic IFNGR1 NA synonymous SNV IFNGR1:NM_000416:exon7:c.T1050G:p.S350S exonic ENSG00000027697 NA synonymous SNV ENSG00000027697:ENST00000367739:exon7:c.T1050G:p.S350S,ENSG00000027697:ENST00000543628:exon7:c.T966G:p.S322S NA NA 6q23.3 Score=894;Name=V$HSF1_01 NA NA NA rs11914 0.11 0.11 0.111 0.0940495 0.1471 0.1062 0.111 0.0492 0.0757 0.15 0.09 0.13 0.06 0.1317 0.16 NA NA 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 0.163488 0.060599 NA 0.058 NA 6.2243786 1038 20 62729431 62729431 C T exonic OPRL1 NA synonymous SNV OPRL1:NM_000913:exon3:c.C510T:p.V170V,OPRL1:NM_182647:exon4:c.C510T:p.V170V,OPRL1:NM_001200019:exon5:c.C510T:p.V170V exonic ENSG00000125510 NA synonymous SNV ENSG00000125510:ENST00000355631:exon3:c.C510T:p.V170V,ENSG00000125510:ENST00000336866:exon4:c.C510T:p.V170V,ENSG00000125510:ENST00000349451:exon5:c.C510T:p.V170V Score=556;Name=lod=242 NA 20q13.33 NA NA NA NA rs2229205 0.14 0.14 0.157 0.116414 0.1541 0.1508 0.0951 0.1127 0.0624 0.17 0.13 0.09 0.15 0.132 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563753 NA NA 0.156701 0.105311 NA 0.152 NA 6.2238656 1038 14 20764585 20764585 A C exonic TTC5 NA synonymous SNV TTC5:NM_138376:exon6:c.T660G:p.A220A exonic ENSG00000136319 NA synonymous SNV ENSG00000136319:ENST00000258821:exon6:c.T660G:p.A220A Score=584;Name=lod=316 NA 14q11.2 NA NA NA NA rs1953552 0.45 0.45 0.422 0.401158 0.4821 0.4772 0.5274 0.2322 0.3783 0.48 0.52 0.55 0.25 0.4585 0.55 . . . . . . . . 0.000 P . . . . -0.923 T 0.000 T . 1.573 11.22 -1.63 -0.349 -0.043 1.303 1.573249 1.573249 NA 0.502326 0.264185 ID=COSM1128303;OCCURENCE=1(prostate) 0.42 NA 6.2237406 1038 12 120171995 120171995 T C exonic CIT NA synonymous SNV CIT:NM_007174:exon25:c.A3198G:p.R1066R,CIT:NM_001206999:exon26:c.A3324G:p.R1108R exonic ENSG00000122966 NA synonymous SNV ENSG00000122966:ENST00000546026:exon4:c.A324G:p.R108R,ENSG00000122966:ENST00000261833:exon25:c.A3198G:p.R1066R,ENSG00000122966:ENST00000392521:exon26:c.A3324G:p.R1108R Score=582;Name=lod=309 NA 12q24.23 NA NA NA NA rs278109 0.78 0.78 0.79 0.791733 0.8141 0.5526 0.8761 0.9448 0.7485 0.81 0.52 0.89 0.94 0.8062 0.94 . . . . . . . . 0.000 P . . . . -1.038 T 0.000 T . 1.076 9.394 2.01 0.248 0.262 6.786 1.076382 NA NA 0.823721 0.925102 NA 0.906 NA 6.2226456 1038 1 171556165 171556165 G C exonic PRRC2C NA synonymous SNV PRRC2C:NM_015172:exon31:c.G7767C:p.S2589S exonic ENSG00000117523 NA synonymous SNV ENSG00000117523:ENST00000426496:exon29:c.G7572C:p.S2524S,ENSG00000117523:ENST00000338920:exon31:c.G7767C:p.S2589S,ENSG00000117523:ENST00000367742:exon31:c.G7773C:p.S2591S,ENSG00000117523:ENST00000392078:exon31:c.G7773C:p.S2591S Score=610;Name=lod=401 NA 1q24.3 NA NA NA NA rs235501 0.81 0.81 0.814 0.793131 0.8151 0.8958 0.732 0.7088 0.8221 0.83 0.9 0.75 0.72 0.819 0.9 . . . . . . . . 0.000 P . . . . -1.031 T 0.032 T . 1.054 9.306 2.14 0.308 -0.135 2.871 1.054442 NA NA 0.810581 0.743985 NA 0.826 NA 6.2219856 1038 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 1038 5 61772535 61772535 G T exonic IPO11 NA synonymous SNV IPO11:NM_001134779:exon9:c.G903T:p.V301V,IPO11:NM_016338:exon9:c.G783T:p.V261V exonic ENSG00000086200 NA synonymous SNV ENSG00000086200:ENST00000325324:exon9:c.G783T:p.V261V,ENSG00000086200:ENST00000409296:exon9:c.G903T:p.V301V,ENSG00000086200:ENST00000424533:exon9:c.G783T:p.V261V Score=599;Name=lod=361 NA 5q12.1 Score=879;Name=V$GATA1_02 NA NA NA rs26635 0.42 0.42 0.4 0.442492 0.4881 0.3155 0.4942 0.413 0.5297 0.48 0.29 0.48 0.42 0.4703 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.96542 NA NA 0.486657 0.411872 ID=COSM149841;OCCURENCE=1(stomach) 0.471 NA 6.2216096 1038 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 1038 12 26943170 26943170 A T intronic ITPR2 NA NA NA intronic ENSG00000123104 NA NA NA Score=505;Name=lod=151 NA 12p11.23 NA Name=FOXA2_(SC-6554),p300,FOXA1_(SC-101058),FOXA1_(C-20) Name=89 NA rs7314747 0.2 0.2 0.2 0.183506 0.2813 0.1915 0.1412 0.1604 0.136 0.27 0.19 0.15 0.15 0.2276 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.734464 1.734464 NA 0.269759 0.160603 NA 0.261 NA 6.221341 1038 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 1038 11 5323071 5323071 C T exonic OR51B4 NA nonsynonymous SNV OR51B4:NM_033179:exon1:c.G106A:p.V36I exonic ENSG00000183251 NA nonsynonymous SNV ENSG00000183251:ENST00000380224:exon1:c.G106A:p.V36I NA NA 11p15.4 NA NA NA NA rs7118113 0.69 0.69 0.642 0.680511 0.6918 0.878 0.7392 0.4191 0.7771 0.68 0.86 0.79 0.42 0.7138 0.86 0.23 T 0.004 B 0.004 B 0.121 N 1.000 P -0.57 N 8.62 T -0.898 T 0.000 T 0.042 0.159 4.857 0.647 -0.040 -1.096 4.018 0.159254 NA 0.53 0.706539 0.456611 NA 0.688 NA 6.2211944 1038 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=CTCF,KAP1,CTCF_(C-20),CTCF_(SC-5916),YY1_(C-20),Rad21,SMC3_(ab9263),NANOG_(SC-33759) 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 1038 12 104851112 104851112 T C UTR5 CHST11 NM_018413:c.-78T>C,NM_001173982:c.-78T>C NA NA UTR5 ENSG00000171310 ENST00000547956:c.-78T>C,ENST00000549260:c.-78T>C,ENST00000303694:c.-78T>C,ENST00000546689:c.-78T>C NA NA NA NA 12q23.3 NA Name=HMGN3 Name=140 NA rs111789728 0.1 0.1 0.108 0.122604 0.1143 0.0089 0.1052 0.2148 0.136 0.12 0.01 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 2.038181 2.038181 NA NA NA NA 0.022 NA 6.2190334 1038 17 33998802 33998802 G C exonic AP2B1 NA synonymous SNV AP2B1:NM_001282:exon15:c.G2019C:p.V673V,AP2B1:NM_001030006:exon16:c.G2061C:p.V687V exonic ENSG00000006125 NA synonymous SNV ENSG00000006125:ENST00000262325:exon15:c.G2019C:p.V673V,ENSG00000006125:ENST00000312678:exon16:c.G2061C:p.V687V,ENSG00000006125:ENST00000537622:exon16:c.G2061C:p.V687V,ENSG00000006125:ENST00000538556:exon16:c.G1848C:p.V616V,ENSG00000006125:ENST00000589344:exon16:c.G2061C:p.V687V,ENSG00000006125:ENST00000592545:exon16:c.G1947C:p.V649V Score=654;Name=lod=604 NA 17q12 Score=781;Name=V$PAX2_01 NA NA NA rs1049379 0.47 0.47 0.476 0.471046 0.4672 0.5317 0.4798 0.4644 0.4151 0.47 0.53 0.46 0.44 0.488 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.537383 NA NA 0.492907 0.49478 NA 0.319 NA 6.2185596 1038 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 1038 19 31768416 31768416 A G exonic TSHZ3 NA synonymous SNV TSHZ3:NM_020856:exon2:c.T2283C:p.A761A exonic ENSG00000121297 NA synonymous SNV ENSG00000121297:ENST00000240587:exon2:c.T2283C:p.A761A NA NA 19q12 Score=802;Name=V$HEN1_02 NA NA NA rs3745784 0.28 0.28 0.286 0.311102 0.1133 0.249 0.2637 0.5923 0.2321 0.11 0.27 0.23 0.59 0.203 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.855335 NA NA 0.133372 0.520881 NA 0.268 NA 6.2169946 1038 11 66373305 66373305 G A exonic CCS NA synonymous SNV CCS:NM_005125:exon8:c.G804A:p.A268A exonic ENSG00000173992 NA synonymous SNV ENSG00000173992:ENST00000310190:exon8:c.G747A:p.A249A,ENSG00000173992:ENST00000533244:exon8:c.G804A:p.A268A NA NA 11q13.2 Score=887;Name=V$NFE2_01 NA NA NA rs1127145 0.07 0.07 0.073 0.0786741 0.1531 0.0208 0.0793 0.0098 0.1544 0.16 0.01 0.09 0.01 0.137 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.86817 1.86817 NA 0.159953 0.032955 ID=COSM429668;OCCURENCE=1(breast) 0.051 NA 6.2166136 1038 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 1038 11 93212245 93212245 C T exonic SMCO4 NA synonymous SNV SMCO4:NM_020179:exon3:c.G111A:p.T37T exonic ENSG00000166002 NA synonymous SNV ENSG00000166002:ENST00000525141:exon2:c.G111A:p.T37T,ENSG00000166002:ENST00000298966:exon3:c.G111A:p.T37T,ENSG00000166002:ENST00000526869:exon3:c.G111A:p.T37T,ENSG00000166002:ENST00000527149:exon3:c.G111A:p.T37T,ENSG00000166002:ENST00000529714:exon3:c.G111A:p.T37T Score=686;Name=lod=818 NA 11q21 NA NA NA NA rs3207348 0.08 0.08 0.078 0.0778754 0.159 0.0397 0.0764 0.0113 0.1247 0.16 0.04 0.1 0.01 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 1.34061 1.34061 NA 0.159725 0.035666 NA 0.072 NA 6.2156416 1038 1 158735892 158735892 A G exonic OR6N1 NA nonsynonymous SNV OR6N1:NM_001005185:exon1:c.T581C:p.I194T exonic ENSG00000197403 NA nonsynonymous SNV ENSG00000197403:ENST00000335094:exon1:c.T581C:p.I194T NA NA 1q23.1 NA NA NA NA rs857827 0.71 0.71 0.706 0.667931 0.7217 0.6171 0.7839 0.7784 0.4335 0.73 0.6 0.79 0.76 0.6796 0.79 0.28 T 0.001 B 0.002 B 0.146 N 1.000 P 0.81 L 8.6 T -1.050 T 0.000 T 0.099 0.162 4.87 3.65 0.836 0.391 4.054 0.161768 NA 0.49 0.716512 0.779846 ID=COSM1559899;OCCURENCE=1(large_intestine) 0.587 NA 6.2155214 1038 14 23248112 23248112 A G exonic SLC7A7 NA synonymous SNV SLC7A7:NM_001126105:exon5:c.T660C:p.G220G,SLC7A7:NM_001126106:exon5:c.T660C:p.G220G exonic ENSG00000155465 NA synonymous SNV ENSG00000155465:ENST00000397529:exon4:c.T660C:p.G220G,ENSG00000155465:ENST00000397532:exon4:c.T660C:p.G220G,ENSG00000155465:ENST00000556287:exon4:c.T660C:p.G220G,ENSG00000155465:ENST00000285850:exon5:c.T660C:p.G220G,ENSG00000155465:ENST00000397528:exon5:c.T660C:p.G220G,ENSG00000155465:ENST00000555702:exon5:c.T660C:p.G220G Score=492;Name=lod=133 NA 14q11.2 NA NA NA NA rs1805061 0.22 0.22 0.221 0.237819 0.1392 0.3373 0.268 0.2874 0.1483 0.13 0.3 0.24 0.26 0.1813 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.389823 1.389823 NA 0.130814 0.256922 NA 0.203 NA 6.2153526 1039 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 1039 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 1039 15 68122509 68122509 T C intronic SKOR1 NA NA NA intronic ENSG00000188779 NA NA NA Score=646;Name=lod=562 NA 15q23 NA Name=SUZ12 Name=2 NA rs28587941 0.4 0.4 0.379 0.416334 0.2356 0.5952 0.4697 0.4244 0.3691 0.23 0.6 0.43 0.42 0.3224 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5.494936 5.494936 NA 0.228711 0.384091 NA 0.377 NA 6.213289 1039 2 141707868 141707868 G T exonic LRP1B NA synonymous SNV LRP1B:NM_018557:exon20:c.C3072A:p.A1024A exonic ENSG00000168702 NA synonymous SNV ENSG00000168702:ENST00000434794:exon5:c.C507A:p.A169A,ENSG00000168702:ENST00000389484:exon20:c.C3072A:p.A1024A Score=648;Name=lod=573 NA 2q22.1 NA NA NA NA rs6748626 0.27 0.27 0.276 0.275759 0.1402 0.249 0.2378 0.4735 0.2025 0.13 0.27 0.25 0.48 0.1761 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.419399 1.419399 NA 0.137442 0.390604 NA 0.21 NA 6.2129246 1039 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 1039 5 102895124 102895124 G A exonic NUDT12 NA synonymous SNV NUDT12:NM_031438:exon3:c.C252T:p.D84D exonic ENSG00000112874 NA synonymous SNV ENSG00000112874:ENST00000230792:exon3:c.C252T:p.D84D,ENSG00000112874:ENST00000507423:exon3:c.C198T:p.D66D Score=490;Name=lod=131 NA 5q21.2 NA NA NA NA rs7723689 0.1 0.1 0.089 0.10004 0.1561 0.0129 0.1513 0.1407 0.0409 0.14 0.01 0.14 0.12 0.1327 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.727301 NA NA 0.166279 0.122024 NA 0.087 NA 6.2115876 1039 15 33091079 33091079 A G exonic FMN1 NA synonymous SNV FMN1:NM_001103184:exon15:c.T3387C:p.F1129F,FMN1:NM_001277313:exon19:c.T4056C:p.F1352F exonic ENSG00000248905 NA synonymous SNV ENSG00000248905:ENST00000561249:exon14:c.T3762C:p.F1254F,ENSG00000248905:ENST00000334528:exon15:c.T3387C:p.F1129F,ENSG00000248905:ENST00000559047:exon16:c.T4056C:p.F1352F Score=611;Name=lod=407 NA 15q13.3 NA NA NA NA rs7162695 0.15 0.15 0.139 0.163738 0.168 0.1032 0.1297 0.2035 0.1922 0.17 0.09 0.13 0.18 0.1466 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 0.492857 NA NA 0.141349 0.190133 NA 0.116 NA 6.2107176 1039 2 33759395 33759395 C T exonic RASGRP3 NA synonymous SNV RASGRP3:NM_015376:exon10:c.C1089T:p.S363S,RASGRP3:NM_001139488:exon11:c.C1089T:p.S363S,RASGRP3:NM_170672:exon12:c.C1089T:p.S363S exonic ENSG00000152689 NA synonymous SNV ENSG00000152689:ENST00000419772:exon2:c.C216T:p.S72S,ENSG00000152689:ENST00000407811:exon10:c.C1089T:p.S363S,ENSG00000152689:ENST00000403687:exon11:c.C1089T:p.S363S,ENSG00000152689:ENST00000402538:exon12:c.C1089T:p.S363S Score=523;Name=lod=178 NA 2p22.3 NA NA NA NA rs35933402 0.1 0.1 0.076 0.0882588 0.1501 0.006 0.1931 0.0484 0.089 0.16 0.01 0.16 0.07 0.1559 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.52739 NA NA 0.150344 0.05534 NA 0.087 NA 6.2103226 1039 16 68055495 68055495 G C exonic DDX28 NA synonymous SNV DDX28:NM_018380:exon1:c.C1611G:p.P537P exonic ENSG00000182810 NA synonymous SNV ENSG00000182810:ENST00000332395:exon1:c.C1611G:p.P537P Score=295;Name=lod=21 NA 16q22.1 NA NA NA NA rs13816 0.18 0.18 0.177 0.191494 0.1461 0.1002 0.183 0.3124 0.1748 0.15 0.12 0.18 0.31 0.1684 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.128559 NA NA 0.14186 0.285942 ID=COSM148094;OCCURENCE=1(stomach) 0.283 NA 6.2103066 1039 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 1039 17 38186106 38186106 C T exonic MED24 NA synonymous SNV MED24:NM_001079518:exon12:c.G1122A:p.A374A,MED24:NM_001267797:exon12:c.G1122A:p.A374A,MED24:NM_014815:exon13:c.G1161A:p.A387A exonic ENSG00000008838 NA synonymous SNV ENSG00000008838:ENST00000580885:exon11:c.G948A:p.A316A,ENSG00000008838:ENST00000356271:exon12:c.G1122A:p.A374A,ENSG00000008838:ENST00000394126:exon12:c.G1236A:p.A412A,ENSG00000008838:ENST00000394127:exon12:c.G1122A:p.A374A,ENSG00000008838:ENST00000535071:exon12:c.G1011A:p.A337A,ENSG00000008838:ENST00000394128:exon13:c.G1161A:p.A387A,ENSG00000008838:ENST00000501516:exon13:c.G1218A:p.A406A Score=410;Name=lod=62 NA 17q21.1 NA NA NA NA rs11555255 0.12 0.12 0.126 0.105431 0.164 0.006 0.1182 0.1551 0.0716 0.17 0.01 0.13 0.16 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 0.359632 NA NA 0.162907 0.167272 NA 0.174 NA 6.2102596 1039 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 1039 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 1039 11 35226155 35226155 A G exonic CD44 NA nonsynonymous SNV CD44:NM_001001389:exon9:c.A1121G:p.K374R,CD44:NM_000610:exon10:c.A1250G:p.K417R exonic ENSG00000026508 NA nonsynonymous SNV ENSG00000026508:ENST00000528672:exon2:c.A206G:p.K69R,ENSG00000026508:ENST00000531110:exon3:c.A386G:p.K129R,ENSG00000026508:ENST00000415148:exon9:c.A1121G:p.K374R,ENSG00000026508:ENST00000428726:exon10:c.A1250G:p.K417R,ENSG00000026508:ENST00000433354:exon10:c.A1253G:p.K418R,ENSG00000026508:ENST00000437706:exon10:c.A1250G:p.K417R Score=313;Name=lod=25 NA 11p13 NA NA NA NA rs9666607 0.81 0.81 0.836 0.830272 0.6839 0.9306 0.6859 0.9221 0.8558 0.71 0.93 0.69 0.92 0.7478 0.93 0.57 T 0.0 B 0.002 B 0.624 N 0.000 P 1.1 L 2.3 T -1.010 T 0.000 T 0.203 -0.571 1.428 1.86 0.019 0.453 7.287 -0.571126 NA 0.53 0.693462 0.867393 NA 0.681 NA 6.2081714 1039 18 29797921 29797921 C T exonic MEP1B NA nonsynonymous SNV MEP1B:NM_005925:exon14:c.C2084T:p.P695L exonic ENSG00000141434 NA nonsynonymous SNV ENSG00000141434:ENST00000269202:exon14:c.C2084T:p.P695L,ENSG00000141434:ENST00000581447:exon14:c.C2084T:p.P695L NA NA 18q12.1 NA NA NA NA rs616114 0.36 0.36 0.35 0.355831 0.3648 0.255 0.2882 0.4251 0.4049 0.37 0.28 0.3 0.46 0.371 0.46 1 T 0.0 B 0.0 B 0.018 N 1.000 P -1.39 N 2.25 T -0.926 T 0.000 T 0.033 -1.529 0.016 0.414 -0.149 0.916 9.835 -1.529447 NA 0.89 0.389831 0.397615 NA 0.457 NA 6.2077024 1039 6 80741243 80741243 A T exonic TTK NA synonymous SNV TTK:NM_001166691:exon14:c.A1578T:p.I526I,TTK:NM_003318:exon14:c.A1581T:p.I527I exonic ENSG00000112742 NA synonymous SNV ENSG00000112742:ENST00000230510:exon14:c.A1578T:p.I526I,ENSG00000112742:ENST00000369798:exon14:c.A1581T:p.I527I,ENSG00000112742:ENST00000509894:exon14:c.A1578T:p.I526I Score=614;Name=lod=417 NA 6q14.1 NA NA NA NA rs1801465 0.08 0.08 0.071 0.0852636 0.1481 0.0109 0.1037 0.0265 0.1636 0.14 0.01 0.12 0.04 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 1.174027 NA NA 0.171399 0.05 NA 0.101 NA 6.2075676 1039 17 77075673 77075673 A G exonic ENGASE NA synonymous SNV ENGASE:NM_001042573:exon4:c.A519G:p.P173P exonic ENSG00000167280 NA synonymous SNV ENSG00000167280:ENST00000579016:exon4:c.A519G:p.P173P NA NA 17q25.3 Score=682;Name=V$PPARG_02 NA NA NA rs3744185 0.34 0.34 NA 0.416334 0.173 0.38 0.4063 0.6316 0.4202 0.18 0.36 0.33 0.57 0.2866 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.659606 NA NA NA NA ID=COSM1165914;OCCURENCE=1(large_intestine) 0.326 NA 6.2070666 1039 10 31138817 31138817 G A exonic ZNF438 NA nonsynonymous SNV ZNF438:NM_001143767:exon5:c.C517T:p.P173S,ZNF438:NM_001143768:exon6:c.C517T:p.P173S,ZNF438:NM_001143766:exon7:c.C517T:p.P173S,ZNF438:NM_001143769:exon7:c.C370T:p.P124S,ZNF438:NM_001143771:exon7:c.C487T:p.P163S,ZNF438:NM_182755:exon7:c.C517T:p.P173S,ZNF438:NM_001143770:exon8:c.C487T:p.P163S exonic ENSG00000183621 NA nonsynonymous SNV ENSG00000183621:ENST00000444692:exon2:c.C487T:p.P163S,ENSG00000183621:ENST00000413025:exon5:c.C517T:p.P173S,ENSG00000183621:ENST00000361310:exon6:c.C517T:p.P173S,ENSG00000183621:ENST00000331737:exon7:c.C487T:p.P163S,ENSG00000183621:ENST00000436087:exon7:c.C517T:p.P173S,ENSG00000183621:ENST00000442986:exon7:c.C517T:p.P173S,ENSG00000183621:ENST00000538351:exon7:c.C370T:p.P124S,ENSG00000183621:ENST00000452305:exon8:c.C487T:p.P163S NA NA 10p11.23 NA NA NA NA rs10160116 0.38 0.38 0.336 0.375399 0.3479 0.3978 0.4308 0.326 0.408 0.36 0.41 0.45 0.32 0.4014 0.45 0.87 T 0.053 B 0.019 B 0.474 N 1.000 P 1.445 L 3.03 T -0.923 T 0.000 T 0.099 0.06 4.324 1.18 0.010 0.165 2.587 0.059571 NA 0.54 0.376977 0.332274 NA 0.232 NA 6.2070564 1039 20 20348962 20348962 C T exonic INSM1 NA synonymous SNV INSM1:NM_002196:exon1:c.C51T:p.S17S exonic ENSG00000173404 NA synonymous SNV ENSG00000173404:ENST00000310227:exon1:c.C51T:p.S17S Score=583;Name=lod=312 NA 20p11.23 NA NA NA NA rs111558392 0.08 0.08 0.093 0.0738818 0.1143 0.0079 0.0879 0.0772 0.0859 0.1 0.01 0.09 0.1 0.2115 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.734925 NA NA 0.134401 0.082075 NA NA NA 6.2064656 1039 17 35609866 35609866 C T exonic ACACA NA synonymous SNV ACACA:NM_198837:exon13:c.G1638A:p.Q546Q,ACACA:NM_198838:exon14:c.G1578A:p.Q526Q,ACACA:NM_198834:exon15:c.G1923A:p.Q641Q,ACACA:NM_198836:exon15:c.G1812A:p.Q604Q,ACACA:NM_198839:exon19:c.G1812A:p.Q604Q exonic ENSG00000132142 NA synonymous SNV ENSG00000132142:ENST00000360679:exon13:c.G1638A:p.Q546Q,ENSG00000132142:ENST00000335166:exon14:c.G1578A:p.Q526Q,ENSG00000132142:ENST00000353139:exon15:c.G1923A:p.Q641Q,ENSG00000132142:ENST00000394406:exon15:c.G1812A:p.Q604Q Score=626;Name=lod=466 NA 17q12 NA NA NA NA rs2229416 0.2 0.2 0.148 0.219848 0.1561 0.4534 0.1412 0.0227 0.3671 0.15 0.44 0.13 0.03 0.1769 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076806 NA NA 0.127442 0.038357 NA 0.101 NA 6.2062246 1039 19 35550878 35550878 C T exonic HPN NA synonymous SNV HPN:NM_182983:exon6:c.C391T:p.L131L,HPN:NM_002151:exon7:c.C391T:p.L131L exonic ENSG00000105707 NA synonymous SNV ENSG00000105707:ENST00000262626:exon6:c.C391T:p.L131L,ENSG00000105707:ENST00000392226:exon7:c.C391T:p.L131L Score=437;Name=lod=80 NA 19q13.12 NA NA NA NA rs45512696 0.08 0.08 0.085 0.0644968 0.162 0.0109 0.072 0.0045 0.0951 0.16 0.02 0.09 0.01 0.139 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.109872 NA NA 0.160349 0.037012 NA 0.087 NA 6.2053176 1040 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=CTCF,CTCF_(C-20),CTCF_(SC-5916),Rad21,SMC3_(ab9263) 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 1040 12 3782701 3782701 C T exonic EFCAB4B NA synonymous SNV EFCAB4B:NM_001144958:exon7:c.G582A:p.L194L,EFCAB4B:NM_032680:exon7:c.G582A:p.L194L exonic ENSG00000130038 NA synonymous SNV ENSG00000130038:ENST00000252322:exon7:c.G582A:p.L194L,ENSG00000130038:ENST00000440314:exon7:c.G582A:p.L194L,ENSG00000130038:ENST00000444507:exon7:c.G582A:p.L194L Score=478;Name=lod=117 NA 12p13.32 NA NA NA NA rs17697920 0.15 0.15 0.143 0.171326 0.1471 0.127 0.2363 0.1172 0.2689 0.14 0.15 0.24 0.12 0.1719 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.02224 NA NA 0.142791 0.125738 NA 0.188 NA 6.2048756 1040 16 56553816 56553816 A C UTR5 BBS2 NM_031885:c.-42T>G NA NA UTR5 ENSG00000125124 ENST00000568104:c.-42T>G,ENST00000245157:c.-42T>G NA NA NA NA 16q12.2 NA Name=Ini1,CTCF,Pol2,Pol2(phosphoS2),HEY1,TAF1,Pol2-4H8,YY1_(C-20),ZNF263,YY1,c-Fos Name=148 NA rs78076550 0.09 0.09 0.065 0.117013 0.0268 0.1657 0.0504 0.1581 0.1513 0.03 0.14 0.05 0.17 0.0707 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.932811 NA NA 0.03117 0.120957 NA NA NA 6.2046634 1040 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$NRSF_01 NA NA NA rs41535850 0.16 0.16 0.155 0.163938 0.163 0.1587 0.1599 0.1422 0.2025 0.16 0.18 0.18 0.12 0.155 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.099247 NA NA 0.144302 0.125057 NA 0.188 NA 6.2043646 1040 9 138742077 138742077 C G exonic CAMSAP1 NA synonymous SNV CAMSAP1:NM_015447:exon7:c.G951C:p.P317P exonic ENSG00000130559 NA synonymous SNV ENSG00000130559:ENST00000312405:exon5:c.G117C:p.P39P,ENSG00000130559:ENST00000389532:exon7:c.G951C:p.P317P,ENSG00000130559:ENST00000409386:exon8:c.G984C:p.P328P NA NA 9q34.3 Score=882;Name=V$FOXJ2_02 NA NA NA rs35981196 0.11 0.11 0.131 0.121605 0.1322 NA 0.0879 0.2057 0.1462 0.13 NA 0.11 0.22 0.1534 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.975465 NA NA 0.177093 0.200635 NA 0.167 NA 6.2039736 1040 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 1040 16 56553814 56553814 A G UTR5 BBS2 NM_031885:c.-40T>C NA NA UTR5 ENSG00000125124 ENST00000568104:c.-40T>C,ENST00000245157:c.-40T>C NA NA NA NA 16q12.2 NA Name=YY1_(C-20),ZNF263,YY1,c-Fos,CTCF,Ini1,Pol2(phosphoS2),Pol2,HEY1,Pol2-4H8,TAF1 Name=148 NA rs115078074 0.09 0.09 0.061 0.117013 0.0268 0.1657 0.0504 0.1581 0.1513 0.03 0.14 0.05 0.17 0.0709 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.437278 1.437278 NA 0.032333 0.127563 NA NA NA 6.2033004 1040 17 7630505 7630505 T C exonic DNAH2 NA synonymous SNV DNAH2:NM_020877:exon3:c.T294C:p.H98H exonic ENSG00000183914 NA synonymous SNV ENSG00000183914:ENST00000082259:exon3:c.T294C:p.H98H,ENSG00000183914:ENST00000389173:exon3:c.T294C:p.H98H,ENSG00000183914:ENST00000570791:exon4:c.T294C:p.H98H,ENSG00000183914:ENST00000572933:exon4:c.T294C:p.H98H NA NA 17p13.1 NA Name=FOSL2 NA NA rs11867551 0.1 0.1 0.101 0.086262 0.167 NA 0.072 0.112 0.0675 0.18 NA 0.07 0.13 0.1299 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.853948 NA NA 0.166628 0.11734 NA 0.094 NA 6.2031386 1040 10 98820528 98820528 C G exonic SLIT1 NA synonymous SNV SLIT1:NM_003061:exon9:c.G810C:p.G270G exonic ENSG00000187122 NA synonymous SNV ENSG00000187122:ENST00000266058:exon9:c.G810C:p.G270G,ENSG00000187122:ENST00000314867:exon9:c.G759C:p.G253G,ENSG00000187122:ENST00000371041:exon9:c.G810C:p.G270G,ENSG00000187122:ENST00000371070:exon9:c.G810C:p.G270G NA NA 10q24.1 NA Name=GATA-2 NA NA rs33970910 0.11 0.11 0.094 0.096845 0.175 0.002 0.0994 0.1271 0.0716 0.17 0.0017 0.14 0.12 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 1.71281 1.71281 NA 0.144651 0.119156 NA 0.08 NA 6.2028156 1040 10 63964653 63964653 C T exonic RTKN2 NA synonymous SNV RTKN2:NM_145307:exon10:c.G1149A:p.K383K exonic ENSG00000182010 NA synonymous SNV ENSG00000182010:ENST00000315289:exon6:c.G555A:p.K185K,ENSG00000182010:ENST00000373789:exon10:c.G1149A:p.K383K,ENSG00000182010:ENST00000395265:exon11:c.G1212A:p.K404K Score=564;Name=lod=262 NA 10q21.2 NA NA NA NA rs41274060 0.14 0.14 0.144 0.140575 0.16 0.005 0.1066 0.295 0.0757 0.16 0.01 0.12 0.27 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 0.826684 NA NA 0.157558 0.266228 NA 0.181 NA 6.2028086 1040 19 50926265 50926265 G C exonic SPIB NA nonsynonymous SNV SPIB:NM_001243999:exon4:c.G310C:p.A104P,SPIB:NM_003121:exon4:c.G310C:p.A104P exonic ENSG00000142539,ENSG00000269404 NA nonsynonymous SNV ENSG00000269404:ENST00000270632:exon4:c.G310C:p.A104P,ENSG00000269404:ENST00000595883:exon4:c.G310C:p.A104P,ENSG00000269404:ENST00000597855:exon4:c.G310C:p.A104P NA NA 19q13.33 NA NA NA NA rs11546996 0.49 0.49 0.386 0.46905 0.7704 0.2143 0.6268 0.2534 0.6012 0.79 0.2 0.6 0.29 0.6611 0.79 0.53 T 0.026 B 0.015 B 0.358 N 1.000 P 0.695 N 0.82 T -0.984 T 0.000 T 0.061 -0.819 0.626 -2.12 0.029 0.775 4.825 -0.819108 NA 0.33 0.700678 0.300046 NA NA NA 6.2011554 1040 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 1040 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 1040 12 121454257 121454257 T A exonic C12orf43 NA synonymous SNV C12orf43:NM_022895:exon1:c.A21T:p.T7T exonic ENSG00000157895 NA synonymous SNV ENSG00000157895:ENST00000288757:exon1:c.A21T:p.T7T,ENSG00000157895:ENST00000536407:exon1:c.A21T:p.T7T,ENSG00000157895:ENST00000539736:exon1:c.A21T:p.T7T NA NA 12q24.31 NA Name=TAF7_(SQ-8),POU2F2,USF-1,USF2,Pol2,CHD2_(N-1250),HA-E2F1,GATA-2,USF1_(SC-8983),ETS1,HEY1,ELF1_(SC-631),Znf143_(16618-1-AP),NFKB,HMGN3,ZEB1_(SC-25388),RFX5_(N-494),TAF1,eGFP-JunB,Pol2-4H8,eGFP-JunD,SIX5,E2F4,GATA3_(SC-268),Sin3Ak-20,PAX5-C20,Mxi1_(bHLH),ERalpha_a,YY1_(C-20),Max,TCF4,IRF1,c-Myc,Oct-2,GTF2F1_(RAP-74),ZNF263,JunD,TBP,Pol2(b),YY1 Name=148 NA rs2258227 0.81 0.81 0.785 0.784744 0.833 0.8601 0.9193 0.5651 0.8589 0.83 0.88 0.91 0.61 0.8157 0.91 . . . . . . . . 1.000 P . . . . -1.031 T 0.000 T . -0.557 1.483 -1.55 -0.407 -0.147 0.474 -0.556644 NA NA 0.817326 0.614389 NA 0.79 NA 6.2006406 1040 13 111156411 111156411 G A ncRNA_intronic COL4A2-AS1 NA NA NA ncRNA_intronic ENSG00000232814 NA NA NA NA NA 13q34 Score=823;Name=V$GR_Q6 Name=Pol2,EBF1_(C-8) NA NA rs414881 0.48 0.48 0.405 0.476038 0.4662 0.5923 0.4669 0.3548 0.5368 0.48 0.58 0.51 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 -0.328344 NA NA NA NA NA 0.471 NA 6.2004666 1040 16 108585 108585 T C exonic RHBDF1 NA synonymous SNV RHBDF1:NM_022450:exon18:c.A2322G:p.S774S exonic ENSG00000007384 NA synonymous SNV ENSG00000007384:ENST00000262316:exon18:c.A2322G:p.S774S NA NA 16p13.3 NA NA NA NA rs216598 0.79 0.79 0.789 0.785743 0.8221 0.621 0.7723 0.9652 0.6851 0.83 0.59 0.78 0.96 0.8105 0.96 . . . . . . . . 0.000 P . . . . -1.071 T 0.000 T . -1.578 0.014 -10.1 -4.610 -7.684 3.381 -1.578485 NA NA 0.833953 0.951657 NA 0.812 NA 6.2001136 1040 20 18393499 18393499 C T intronic DZANK1 NA NA NA splicing ENSG00000089091 ENST00000377630:exon13:c.724-2G>A NA NA NA NA 20p11.23 NA NA NA NA rs6075338 0.59 0.59 0.597 0.629593 0.7992 0.3095 0.6441 0.6029 0.8108 0.79 0.34 0.64 0.55 0.7147 0.79 . . . . . . . . 0.000 P . . . . . . . . . 0.557 7.011 5.75 1.013 1.977 9.619 0.556713 NA NA 0.786323 0.645856 NA 0.652 NA 6.199777 1040 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 1040 16 24582299 24582299 C G exonic RBBP6 NA synonymous SNV RBBP6:NM_018703:exon17:c.C3810G:p.T1270T,RBBP6:NM_006910:exon18:c.C3912G:p.T1304T exonic ENSG00000122257 NA synonymous SNV ENSG00000122257:ENST00000381039:exon11:c.C1392G:p.T464T,ENSG00000122257:ENST00000348022:exon17:c.C3810G:p.T1270T,ENSG00000122257:ENST00000319715:exon18:c.C3912G:p.T1304T Score=689;Name=lod=839 NA 16p12.1 NA NA NA NA rs7196736 0.12 0.12 0.106 0.127995 0.1402 0.0149 0.1585 0.149 0.182 0.14 0.02 0.17 0.17 0.157 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.438652 NA NA 0.171163 0.162039 NA 0.116 NA 6.1983036 1040 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 1040 19 2717256 2717256 C G exonic DIRAS1 NA synonymous SNV DIRAS1:NM_145173:exon2:c.G549C:p.G183G exonic ENSG00000176490 NA synonymous SNV ENSG00000176490:ENST00000585334:exon1:c.G549C:p.G183G,ENSG00000176490:ENST00000323469:exon2:c.G549C:p.G183G Score=591;Name=lod=337 NA 19p13.3 NA NA NA NA rs3745812 0.24 0.24 0.185 0.197284 0.1362 0.494 0.2277 0.0166 0.1769 0.15 0.56 0.2 0.03 0.1844 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.909606 NA NA 0.148441 0.043804 NA 0.203 NA 6.1976256 1040 12 968489 968489 T C exonic WNK1 NA synonymous SNV WNK1:NM_001184985:exon6:c.T1479C:p.D493D,WNK1:NM_014823:exon6:c.T1479C:p.D493D,WNK1:NM_018979:exon6:c.T1479C:p.D493D,WNK1:NM_213655:exon6:c.T1479C:p.D493D exonic ENSG00000060237 NA synonymous SNV ENSG00000060237:ENST00000340908:exon3:c.T258C:p.D86D,ENSG00000060237:ENST00000315939:exon6:c.T1479C:p.D493D,ENSG00000060237:ENST00000530271:exon6:c.T1479C:p.D493D,ENSG00000060237:ENST00000535572:exon6:c.T1479C:p.D493D,ENSG00000060237:ENST00000537687:exon6:c.T1479C:p.D493D Score=732;Name=lod=1257 NA 12p13.33 NA NA NA NA rs2286006 0.09 0.09 0.077 0.0934505 0.171 0.0675 0.0692 0.0378 0.1329 0.17 0.05 0.07 0.02 0.1488 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.160302 NA NA 0.150268 0.047435 NA 0.145 NA 6.1965986 1040 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 1040 7 87092185 87092185 G A exonic ABCB4 NA synonymous SNV ABCB4:NM_000443:exon4:c.C175T:p.L59L,ABCB4:NM_018849:exon4:c.C175T:p.L59L,ABCB4:NM_018850:exon4:c.C175T:p.L59L exonic ENSG00000005471 NA synonymous SNV ENSG00000005471:ENST00000453593:exon3:c.C175T:p.L59L,ENSG00000005471:ENST00000545634:exon3:c.C175T:p.L59L,ENSG00000005471:ENST00000265723:exon4:c.C175T:p.L59L,ENSG00000005471:ENST00000358400:exon4:c.C175T:p.L59L,ENSG00000005471:ENST00000359206:exon4:c.C175T:p.L59L,ENSG00000005471:ENST00000417608:exon7:c.C175T:p.L59L NA NA 7q21.12 Score=887;Name=V$FREAC7_01 NA NA NA rs2302387 0.25 0.25 0.258 0.252396 0.1481 0.2024 0.1744 0.4939 0.1401 0.14 0.22 0.18 0.53 0.1752 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.359125 NA NA 0.146977 0.427599 NA 0.348 NA 6.1963896 1040 1 63997633 63997633 A T exonic EFCAB7 NA synonymous SNV EFCAB7:NM_032437:exon3:c.A330T:p.S110S exonic ENSG00000203965 NA synonymous SNV ENSG00000203965:ENST00000371088:exon3:c.A330T:p.S110S Score=707;Name=lod=998 NA 1p31.3 NA NA NA NA rs9804078 0.19 0.19 0.18 0.196286 0.1441 0.1855 0.1715 0.2738 0.1738 0.14 0.18 0.18 0.29 0.1726 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.053594 NA NA 0.154133 0.226282 NA 0.13 NA 6.1958336 1040 19 36033460 36033460 C T exonic GAPDHS NA synonymous SNV GAPDHS:NM_014364:exon6:c.C609T:p.V203V exonic ENSG00000105679 NA synonymous SNV ENSG00000105679:ENST00000585510:exon5:c.C405T:p.V135V,ENSG00000105679:ENST00000222286:exon6:c.C609T:p.V203V Score=479;Name=lod=118 NA 19q13.12 NA NA NA NA rs2239945 0.21 0.21 0.17 0.205471 0.1382 0.3651 0.33 0.0234 0.2679 0.14 0.38 0.29 0.04 0.1936 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.398513 NA NA 0.139302 0.047208 NA 0.203 NA 6.1955646 1041 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 1041 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 1041 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 1041 1 22174426 22174426 T G intronic HSPG2 NA NA NA exonic ENSG00000142798 NA nonsynonymous SNV ENSG00000142798:ENST00000453796:exon1:c.A26C:p.Y9S NA NA 1p36.12 NA NA NA NA rs2290501 0.33 0.33 0.327 0.3748 0.325 0.1617 0.2594 0.5424 0.501 0.31 0.17 0.3 0.57 0.3372 0.57 . . . . . . . . 1.000 P . . 0.97 T -0.929 T 0.000 T 0.164 0.704 7.752 2.45 0.338 -0.001 3.671 0.70352 NA 0 0.310814 0.528824 NA 0.399 NA 6.1936527 1041 11 113679119 113679119 C T exonic USP28 NA synonymous SNV USP28:NM_020886:exon18:c.G2205A:p.S735S exonic ENSG00000048028 NA synonymous SNV ENSG00000048028:ENST00000544967:exon9:c.G1329A:p.S443S,ENSG00000048028:ENST00000545540:exon16:c.G1830A:p.S610S,ENSG00000048028:ENST00000003302:exon18:c.G2205A:p.S735S,ENSG00000048028:ENST00000260188:exon18:c.G2205A:p.S735S NA NA 11q23.2 NA NA NA NA rs2465647 0.81 0.81 0.786 0.790535 0.837 0.874 0.853 0.6339 0.8241 0.84 0.89 0.85 0.66 0.8182 0.89 . . . . . . . . 0.000 P . . . . -1.066 T 0.000 T . 0.769 8.065 -10.7 -5.020 -4.768 3.725 0.768964 NA NA 0.818203 0.657428 NA 0.804 NA 6.1932636 1041 11 124756406 124756406 G A exonic ROBO4 NA synonymous SNV ROBO4:NM_019055:exon16:c.C2748T:p.S916S exonic ENSG00000154133 NA synonymous SNV ENSG00000154133:ENST00000306534:exon16:c.C2748T:p.S916S,ENSG00000154133:ENST00000533054:exon16:c.C2313T:p.S771S Score=446;Name=lod=87 NA 11q24.2 NA NA NA NA rs7104934 0.2 0.2 0.193 0.234225 0.163 0.0883 0.121 0.4811 0.2045 0.16 0.11 0.13 0.43 0.1734 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.279217 1.279217 NA 0.137125 0.403226 NA 0.319 NA 6.1931416 1041 8 25230168 25230168 C T exonic DOCK5 NA synonymous SNV DOCK5:NM_024940:exon35:c.C3618T:p.D1206D exonic ENSG00000147459 NA synonymous SNV ENSG00000147459:ENST00000276440:exon35:c.C3618T:p.D1206D Score=605;Name=lod=384 NA 8p21.2 NA Name=Pol2 NA NA rs2271108 0.44 0.44 0.411 0.438099 0.508 0.3968 0.464 0.382 0.4663 0.51 0.39 0.49 0.37 0.4752 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.946814 NA NA 0.490581 0.378802 ID=COSM150473;OCCURENCE=1(stomach) 0.377 NA 6.1928856 1041 16 419154 419154 G A exonic MRPL28 NA synonymous SNV MRPL28:NM_006428:exon3:c.C355T:p.L119L exonic ENSG00000086504 NA synonymous SNV ENSG00000086504:ENST00000199706:exon3:c.C355T:p.L119L,ENSG00000086504:ENST00000389675:exon3:c.C355T:p.L119L,ENSG00000086504:ENST00000441883:exon3:c.C355T:p.L119L,ENSG00000086504:ENST00000447696:exon3:c.C355T:p.L119L,ENSG00000086504:ENST00000450882:exon3:c.C355T:p.L119L Score=501;Name=lod=145 NA 16p13.3 NA NA NA NA rs1802752 0.11 0.11 0.107 0.115815 0.165 0.1518 0.0865 0.0189 0.18 0.16 0.12 0.09 0.02 0.1378 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717544 NA NA 0.171047 0.040626 ID=COSM1377786;OCCURENCE=1(large_intestine) 0.13 NA 6.1928196 1041 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 1041 6 30954245 30954245 T C exonic MUC21 NA nonsynonymous SNV MUC21:NM_001010909:exon2:c.T293C:p.V98A exonic ENSG00000204544 NA nonsynonymous SNV ENSG00000204544:ENST00000376296:exon2:c.T293C:p.V98A NA NA 6p21.33 NA NA NA NA rs1634730 0.72 0.72 0.726 0.710663 0.7247 0.5933 0.7363 0.8585 0.5992 0.73 0.59 0.75 0.84 0.697 0.84 . . 0.0 B 0.0 B . . 1.000 P 0 N 4.11 T -0.950 T 0.002 T 0.022 -1.275 0.043 -1.98 -0.827 -2.013 8.033 -1.275364 NA 0.75 0.719302 0.817295 ID=COSM451184;OCCURENCE=1(breast) 0.667 NA 6.1923314 1041 11 5717762 5717762 T C exonic TRIM22 NA synonymous SNV TRIM22:NM_001199573:exon2:c.T300C:p.H100H,TRIM22:NM_006074:exon2:c.T300C:p.H100H exonic ENSG00000132274 NA synonymous SNV ENSG00000132274:ENST00000379965:exon2:c.T300C:p.H100H,ENSG00000132274:ENST00000414641:exon2:c.T300C:p.H100H,ENSG00000132274:ENST00000454828:exon2:c.T300C:p.H100H,ENSG00000132274:ENST00000425490:exon3:c.T300C:p.H100H Score=343;Name=lod=33 NA 11p15.4 NA NA Name=7 NA rs10838543 0.38 0.38 0.378 0.394369 0.5209 0.1766 0.415 0.3714 0.5051 0.52 0.18 0.41 0.38 0.4592 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.043337 NA NA 0.495894 0.378622 NA 0.457 NA 6.1906726 1041 6 105198267 105198267 A G exonic HACE1 NA synonymous SNV HACE1:NM_020771:exon20:c.T2292C:p.F764F exonic ENSG00000085382 NA synonymous SNV ENSG00000085382:ENST00000369125:exon15:c.T1647C:p.F549F,ENSG00000085382:ENST00000262903:exon20:c.T2292C:p.F764F Score=680;Name=lod=777 NA 6q16.3 NA NA NA NA rs7752614 0.15 0.15 0.149 0.173922 0.1481 0.003 0.1398 0.3699 0.136 0.15 0.0035 0.14 0.32 0.165 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.103791 NA NA 0.16314 0.351566 ID=COSM1178508;OCCURENCE=1(prostate) 0.159 NA 6.1904266 1041 19 15303225 15303225 G A exonic NOTCH3 NA synonymous SNV NOTCH3:NM_000435:exon3:c.C303T:p.T101T exonic ENSG00000074181 NA synonymous SNV ENSG00000074181:ENST00000263388:exon3:c.C303T:p.T101T,ENSG00000074181:ENST00000601011:exon3:c.C300T:p.T100T Score=498;Name=lod=141 NA 19p13.12 NA NA NA NA rs3815188 0.24 0.24 0.266 0.224042 0.1471 0.3899 0.1599 0.2496 0.1431 0.14 0.4 0.17 0.26 0.1822 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466758 NA NA 0.147018 0.254434 NA 0.152 NA 6.1903486 1041 13 114156093 114156093 C T exonic TMCO3 NA synonymous SNV TMCO3:NM_017905:exon5:c.C843T:p.S281S exonic ENSG00000150403 NA synonymous SNV ENSG00000150403:ENST00000375391:exon5:c.C843T:p.S281S,ENSG00000150403:ENST00000434316:exon5:c.C843T:p.S281S Score=489;Name=lod=129 NA 13q34 NA NA NA NA rs2260080 0.24 0.24 0.239 0.241014 0.1581 0.2708 0.147 0.4107 0.1329 0.15 0.26 0.15 0.4 0.17 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30574 NA NA 0.148256 0.348389 ID=COSM147724;OCCURENCE=1(stomach) 0.225 NA 6.1903106 1041 19 16593573 16593573 G A exonic CALR3 NA synonymous SNV CALR3:NM_145046:exon6:c.C702T:p.D234D exonic ENSG00000269058 NA synonymous SNV ENSG00000269058:ENST00000269881:exon6:c.C702T:p.D234D Score=515;Name=lod=165 NA 19p13.11 NA NA NA NA rs10403020 0.15 0.15 0.15 0.144569 0.1581 0.0992 0.1182 0.1868 0.1391 0.16 0.08 0.13 0.23 0.1491 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184315 NA NA 0.169186 0.170903 NA 0.232 NA 6.1902806 1041 13 39587889 39587889 T C exonic PROSER1 NA synonymous SNV PROSER1:NM_025138:exon11:c.A1500G:p.L500L exonic ENSG00000120685 NA synonymous SNV ENSG00000120685:ENST00000350125:exon10:c.A1434G:p.L478L,ENSG00000120685:ENST00000352251:exon11:c.A1500G:p.L500L NA NA 13q13.3 Score=873;Name=V$EVI1_05 NA NA NA rs3751377 0.2 0.2 0.194 0.223043 0.162 0.2183 0.1599 0.2458 0.3047 0.16 0.22 0.18 0.25 0.1756 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.177115 NA NA 0.140116 0.244212 NA 0.196 NA 6.1889506 1041 1 234041422 234041422 G C exonic SLC35F3 NA synonymous SNV SLC35F3:NM_173508:exon2:c.G201C:p.P67P exonic ENSG00000183780 NA synonymous SNV ENSG00000183780:ENST00000366618:exon2:c.G201C:p.P67P NA NA 1q42.2 Score=908;Name=V$PAX4_03 NA Name=11 NA rs57010808 0.41 0.41 0.394 0.450679 0.4742 0.4474 0.3127 0.4387 0.544 0.46 0.38 0.31 0.42 0.4853 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.790188 1.790188 NA 0.518488 0.453019 NA 0.471 NA 6.1886786 1041 2 105915128 105915128 G A exonic TGFBRAP1 NA synonymous SNV TGFBRAP1:NM_001142621:exon3:c.C723T:p.R241R,TGFBRAP1:NM_004257:exon3:c.C723T:p.R241R exonic ENSG00000135966 NA synonymous SNV ENSG00000135966:ENST00000258449:exon2:c.C723T:p.R241R,ENSG00000135966:ENST00000393359:exon3:c.C723T:p.R241R NA NA 2q12.1 Score=734;Name=V$MYOGNF1_01 NA NA NA rs12476720 0.29 0.29 0.26 0.297324 0.1352 0.5347 0.2277 0.3147 0.2454 0.14 0.52 0.25 0.27 0.207 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.371265 1.371265 NA 0.136163 0.300272 ID=COSM148921;OCCURENCE=1(stomach) 0.377 NA 6.1883036 1041 13 39586343 39586343 G C exonic PROSER1 NA synonymous SNV PROSER1:NM_025138:exon12:c.C2589G:p.G863G exonic ENSG00000120685 NA synonymous SNV ENSG00000120685:ENST00000350125:exon11:c.C2523G:p.G841G,ENSG00000120685:ENST00000352251:exon12:c.C2589G:p.G863G Score=520;Name=lod=173 NA 13q13.3 NA NA NA NA rs9576697 0.2 0.2 0.194 0.224441 0.162 0.2183 0.1599 0.2511 0.3047 0.16 0.22 0.18 0.25 0.1761 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.957353 NA NA 0.140581 0.248071 NA 0.203 NA 6.1879856 1041 11 46406767 46406767 G A exonic CHRM4 NA synonymous SNV CHRM4:NM_000741:exon1:c.C1341T:p.T447T exonic ENSG00000180720 NA synonymous SNV ENSG00000180720:ENST00000433765:exon1:c.C1341T:p.T447T Score=596;Name=lod=351 NA 11p11.2 NA NA NA NA rs2067482 0.12 0.12 0.113 0.110823 0.167 0.0506 0.0807 0.1059 0.1431 0.17 0.06 0.09 0.13 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 0.410312 NA NA 0.173529 0.113079 NA 0.087 NA 6.1879376 1041 10 96541616 96541616 G A exonic CYP2C19 NA synonymous SNV CYP2C19:NM_000769:exon5:c.G681A:p.P227P exonic ENSG00000165841 NA synonymous SNV ENSG00000165841:ENST00000371321:exon5:c.G681A:p.P227P NA NA 10q23.33 NA NA NA NA rs4244285 0.2 0.2 0.197 0.221446 0.1451 0.3125 0.1052 0.1702 0.3579 0.15 0.33 0.13 0.17 0.1856 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449271 NA NA 0.148407 0.165304 NA 0.188 CLINSIG=drug-response|drug-response|drug-response;CLNDBN=Mephenytoin\x2c_poor_metabolism_of|Proguanil\x2c_poor_metabolism_of|Clopidogrel_response;CLNREVSTAT=single|single|single;CLNACC=RCV000018393.23|RCV000018394.27|RCV000018395.24;CLNDSDB=MedGen|MedGen|MedGen;CLNDSDBID=C1836024|C1836026|C2674941 6.1875596 1041 8 2040298 2040298 C T exonic MYOM2 NA synonymous SNV MYOM2:NM_003970:exon16:c.C1953T:p.A651A exonic ENSG00000036448 NA synonymous SNV ENSG00000036448:ENST00000523438:exon3:c.C228T:p.A76A,ENSG00000036448:ENST00000262113:exon16:c.C1953T:p.A651A NA NA 8p23.3 Score=761;Name=V$PAX5_01 NA NA NA rs2235122 0.14 0.14 0.14 0.137181 0.162 0.1488 0.0735 0.1188 0.1697 0.17 0.18 0.06 0.12 0.1561 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16533 NA NA 0.161163 0.105084 NA 0.109 NA 6.1874036 1041 1 101203698 101203698 C T exonic VCAM1 NA synonymous SNV VCAM1:NM_080682:exon8:c.C1803T:p.D601D,VCAM1:NM_001078:exon9:c.C2079T:p.D693D,VCAM1:NM_001199834:exon9:c.C1893T:p.D631D exonic ENSG00000162692 NA synonymous SNV ENSG00000162692:ENST00000370115:exon7:c.C1482T:p.D494D,ENSG00000162692:ENST00000347652:exon8:c.C1803T:p.D601D,ENSG00000162692:ENST00000294728:exon9:c.C2079T:p.D693D,ENSG00000162692:ENST00000370119:exon9:c.C1893T:p.D631D NA NA 1p21.2 Score=808;Name=V$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 1041 12 11150033 11150033 G T exonic TAS2R20 NA nonsynonymous SNV TAS2R20:NM_176889:exon1:c.C442A:p.H148N exonic ENSG00000255837 NA nonsynonymous SNV ENSG00000255837:ENST00000538986:exon1:c.C442A:p.H148N NA NA 12p13.2 NA NA NA NA rs12226919 0.42 0.42 0.367 0.428315 0.3827 0.755 0.3847 0.0847 0.6339 0.37 0.74 0.43 0.09 0.413 0.74 1 T 0.0 B 0.0 B 0.156 N 1.000 P -2.275 N 1.29 T -0.892 T 0.000 T 0.012 -2.106 0.006 0.515 -0.033 0.313 0.450 -2.105599 NA 1 0.350465 0.118929 NA 0.355 NA 6.1871684 1041 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 1041 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 1041 12 57869582 57869582 T C intronic ARHGAP9 NA NA NA exonic ENSG00000123329 NA nonsynonymous SNV ENSG00000123329:ENST00000356411:exon10:c.A1345G:p.T449A,ENSG00000123329:ENST00000393797:exon13:c.A1558G:p.T520A NA NA 12q13.3 NA NA Name=50 NA rs2277315 0.6 0.6 0.63 0.590655 0.673 0.3978 0.4769 0.7973 0.5061 0.66 0.38 0.51 0.81 0.6279 0.81 0.45 T 0.0 B 0.0 B 0.733 N 1.000 P . . 3.12 T -1.069 T 0.000 T 0.145 -1.215 0.065 -1.56 -0.562 -1.378 5.005 -1.215448 NA 0.26 0.679771 0.773951 NA 0.457 NA 6.1859957 1041 5 150886725 150886725 G A exonic FAT2 NA synonymous SNV FAT2:NM_001447:exon22:c.C12507T:p.S4169S exonic ENSG00000086570 NA synonymous SNV ENSG00000086570:ENST00000261800:exon22:c.C12507T:p.S4169S NA NA 5q33.1 NA NA NA NA rs7723266 0.9 0.9 0.912 0.911941 0.8131 0.9643 0.9063 0.9614 0.8967 0.81 0.98 0.91 0.94 0.8606 0.98 . . . . . . . . 0.000 P . . . . . . . . . 0.258 5.396 -8.14 -1.469 -0.900 1.881 0.258323 NA NA 0.807093 0.940536 NA 0.899 NA 6.1858736 1041 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 1041 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 1041 7 2946461 2946461 T C exonic CARD11 NA synonymous SNV CARD11:NM_032415:exon25:c.A3276G:p.R1092R exonic ENSG00000198286 NA synonymous SNV ENSG00000198286:ENST00000396946:exon25:c.A3276G:p.R1092R Score=543;Name=lod=215 NA 7p22.2 Score=770;Name=V$STAT5A_02 NA NA NA rs1124581 0.58 0.58 0.591 0.596446 0.4742 0.6508 0.5274 0.7012 0.5736 0.49 0.62 0.54 0.68 0.5163 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.034226 NA NA 0.490698 0.655697 NA 0.514 NA 6.1854686 1042 3 112993367 112993367 G A exonic BOC NA synonymous SNV BOC:NM_033254:exon9:c.G1380A:p.P460P exonic ENSG00000144857 NA synonymous SNV ENSG00000144857:ENST00000273395:exon9:c.G1380A:p.P460P,ENSG00000144857:ENST00000355385:exon9:c.G1380A:p.P460P,ENSG00000144857:ENST00000495514:exon9:c.G1380A:p.P460P NA NA 3q13.2 Score=812;Name=V$STAT1_01 NA NA NA rs13094203 0.14 0.14 0.123 0.129992 0.1571 0.1607 0.085 0.1188 0.1176 0.17 0.15 0.1 0.11 0.15 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.648099 NA NA 0.174808 0.142306 NA 0.116 NA 6.1847586 1042 2 121989489 121989489 G A exonic TFCP2L1 NA synonymous SNV TFCP2L1:NM_014553:exon13:c.C1254T:p.I418I exonic ENSG00000115112 NA synonymous SNV ENSG00000115112:ENST00000263707:exon13:c.C1254T:p.I418I Score=528;Name=lod=187 NA 2q14.2 Score=773;Name=V$PAX4_04 NA NA NA rs2304667 0.35 0.35 0.328 0.319888 0.504 0.3472 0.4135 0.0726 0.3701 0.5 0.34 0.42 0.09 0.4446 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.253886 1.253886 NA 0.533372 0.141398 NA 0.203 NA 6.1846946 1042 20 42825929 42825929 C T exonic C20orf111 NA synonymous SNV C20orf111:NM_016470:exon4:c.G642A:p.V214V exonic ENSG00000132823 NA synonymous SNV ENSG00000132823:ENST00000255174:exon4:c.G642A:p.V214V,ENSG00000132823:ENST00000372970:exon6:c.G642A:p.V214V Score=555;Name=lod=241 NA 20q13.12 NA NA NA NA rs8268 0.27 0.27 0.267 0.298722 0.1471 0.4147 0.1124 0.41 0.317 0.16 0.41 0.13 0.38 0.2011 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12983 NA NA 0.133953 0.341807 NA 0.254 NA 6.1845136 1042 1 177001896 177001896 C G exonic ASTN1 NA synonymous SNV ASTN1:NM_004319:exon3:c.G561C:p.P187P,ASTN1:NM_207108:exon3:c.G561C:p.P187P exonic ENSG00000152092 NA synonymous SNV ENSG00000152092:ENST00000361833:exon3:c.G561C:p.P187P,ENSG00000152092:ENST00000367654:exon3:c.G561C:p.P187P,ENSG00000152092:ENST00000367657:exon3:c.G561C:p.P187P,ENSG00000152092:ENST00000424564:exon3:c.G561C:p.P187P Score=546;Name=lod=220 NA 1q25.2 NA NA NA NA rs2076069 0.16 0.16 0.134 0.14996 0.1471 0.2599 0.2118 0.0272 0.1616 0.15 0.24 0.21 0.03 0.1704 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.315699 NA NA 0.164884 0.051748 NA 0.116 NA 6.1842826 1042 1 154401679 154401679 G A exonic IL6R NA synonymous SNV IL6R:NM_000565:exon2:c.G93A:p.A31A,IL6R:NM_001206866:exon2:c.G93A:p.A31A,IL6R:NM_181359:exon2:c.G93A:p.A31A exonic ENSG00000160712 NA synonymous SNV ENSG00000160712:ENST00000344086:exon2:c.G93A:p.A31A,ENSG00000160712:ENST00000368485:exon2:c.G93A:p.A31A,ENSG00000160712:ENST00000512471:exon2:c.G93A:p.A31A NA NA 1q21.3 Score=739;Name=V$MYOGNF1_01 NA NA NA rs2228144 0.12 0.12 0.104 0.117812 0.1789 0.1042 0.1023 0.0484 0.1738 0.18 0.11 0.13 0.03 0.141 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.690478 NA NA 0.162674 0.065365 NA 0.138 NA 6.1840926 1042 10 46999030 46999030 C T exonic GPRIN2 NA synonymous SNV GPRIN2:NM_014696:exon3:c.C150T:p.A50A exonic ENSG00000204175 NA synonymous SNV ENSG00000204175:ENST00000374314:exon1:c.C150T:p.A50A,ENSG00000204175:ENST00000374317:exon3:c.C150T:p.A50A Score=313;Name=lod=25 NA 10q11.22 NA NA NA NA rs4925989 NA NA 0.405 NA NA NA NA NA NA NA NA NA NA 0.4829 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.250226 1.250226 NA NA NA ID=COSM1560778;OCCURENCE=1(large_intestine) 0.355 NA 6.1837666 1042 7 21765452 21765452 C T exonic DNAH11 NA synonymous SNV DNAH11:NM_001277115:exon45:c.C7290T:p.F2430F exonic ENSG00000105877 NA synonymous SNV ENSG00000105877:ENST00000409508:exon45:c.C7290T:p.F2430F,ENSG00000105877:ENST00000328843:exon46:c.C7311T:p.F2437F Score=545;Name=lod=219 NA 7p15.3 NA NA NA NA rs12536928 0.36 0.36 0.321 0.362819 0.496 0.2004 0.4409 0.2602 0.4765 0.5 0.2 0.45 0.27 0.4788 0.51 NA NA 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 0.508454 0.282812 NA 0.348 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079626.1;CLNDSDB=.;CLNDSDBID=. 6.1834126 1042 16 56873495 56873495 C T exonic NUP93 NA synonymous SNV NUP93:NM_001242795:exon18:c.C1830T:p.A610A,NUP93:NM_001242796:exon18:c.C1830T:p.A610A,NUP93:NM_014669:exon20:c.C2199T:p.A733A exonic ENSG00000102900 NA synonymous SNV ENSG00000102900:ENST00000569322:exon2:c.C123T:p.A41A,ENSG00000102900:ENST00000542526:exon18:c.C1830T:p.A610A,ENSG00000102900:ENST00000564887:exon18:c.C1830T:p.A610A,ENSG00000102900:ENST00000308159:exon20:c.C2199T:p.A733A,ENSG00000102900:ENST00000569842:exon20:c.C2199T:p.A733A Score=645;Name=lod=558 NA 16q13 NA NA NA NA rs1138295 0.21 0.21 0.187 0.210663 0.1501 0.3075 0.2305 0.2126 0.1564 0.15 0.31 0.22 0.2 0.1797 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.426544 1.426544 NA 0.154651 0.190628 NA 0.232 NA 6.1822156 1042 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 1042 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 1042 11 1258286 1258286 C T exonic MUC5B NA synonymous SNV MUC5B:NM_002458:exon25:c.C3189T:p.D1063D exonic ENSG00000117983 NA synonymous SNV ENSG00000117983:ENST00000447027:exon25:c.C3198T:p.D1066D,ENSG00000117983:ENST00000529681:exon25:c.C3189T:p.D1063D Score=313;Name=lod=25 NA 11p15.5 NA NA NA NA rs77996005 NA NA 0.28 NA NA NA NA NA NA NA NA NA NA 0.4865 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.600656 NA NA NA NA ID=COSM1352038,COSM1352039;OCCURENCE=1(large_intestine) NA NA 6.1801666 1042 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 1042 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 1042 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=BATF,SP1,PU.1,PAX5-N19,EBF,TBP,JunD,CHD2_(N-1250),FOSL2,EBF1_(C-8),Pol2-4H8,MEF2A,ZEB1_(SC-25388),c-Jun,IRF4_(M-17) 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 1042 12 121174899 121174899 T C exonic ACADS NA synonymous SNV ACADS:NM_000017:exon3:c.T321C:p.R107R exonic ENSG00000122971 NA synonymous SNV ENSG00000122971:ENST00000242592:exon3:c.T321C:p.R107R,ENSG00000122971:ENST00000411593:exon3:c.T321C:p.R107R Score=573;Name=lod=284 NA 12q24.31 Score=775;Name=V$ROAZ_01 NA NA NA rs3914 0.5 0.5 0.512 0.590655 0.4702 0.5655 0.5922 0.6641 0.6401 0.44 0.48 0.55 0.6 0.5706 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 1.209072 NA NA 0.446628 0.624375 NA 0.674 NA 6.1792386 1042 6 87969737 87969737 C T exonic ZNF292 NA synonymous SNV ZNF292:NM_015021:exon8:c.C6390T:p.N2130N exonic ENSG00000188994 NA synonymous SNV ENSG00000188994:ENST00000339907:exon8:c.C6375T:p.N2125N,ENSG00000188994:ENST00000369577:exon8:c.C6390T:p.N2130N Score=598;Name=lod=359 NA 6q14.3 NA Name=Pol2-4H8,SETDB1 NA NA rs3734187 0.56 0.56 0.519 0.592652 0.4692 0.6002 0.6657 0.618 0.6258 0.48 0.57 0.66 0.61 0.5289 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 0.412593 NA NA 0.489419 0.614698 ID=COSM1131787,COSM1131788;OCCURENCE=1(prostate) 0.42 NA 6.1791476 1042 20 5903848 5903848 C G exonic CHGB NA nonsynonymous SNV CHGB:NM_001819:exon4:c.C1058G:p.A353G exonic ENSG00000089199 NA nonsynonymous SNV ENSG00000089199:ENST00000378961:exon4:c.C1058G:p.A353G NA NA 20p12.3 NA NA NA NA rs236152 0.47 0.47 0.48 0.515375 0.3499 0.5288 0.5231 0.6573 0.4744 0.34 0.51 0.45 0.63 0.4455 0.63 0.69 T 0.0 B 0.001 B 0.432 N 1.000 P 1.01 L 3.42 T -0.997 T 0.000 T 0.04 -0.865 0.515 -1.14 -0.043 -0.447 4.588 -0.864782 NA 0.58 0.359419 0.620744 NA 0.551 NA 6.1785144 1042 19 1049269 1049269 G A exonic ABCA7 NA synonymous SNV ABCA7:NM_019112:exon18:c.G2385A:p.L795L exonic ENSG00000064687 NA synonymous SNV ENSG00000064687:ENST00000435683:exon12:c.G1971A:p.L657L,ENSG00000064687:ENST00000433129:exon17:c.G2385A:p.L795L,ENSG00000064687:ENST00000263094:exon18:c.G2385A:p.L795L Score=378;Name=lod=46 NA 19p13.3 NA NA NA NA rs4147914 0.22 0.22 0.211 0.240615 0.166 0.3938 0.1182 0.1762 0.3333 0.18 0.37 0.11 0.17 0.1781 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332715 NA NA 0.144155 0.169846 ID=COSM438473;OCCURENCE=1(breast) 0.101 NA 6.1784116 1042 17 7405937 7405937 C T exonic POLR2A NA synonymous SNV POLR2A:NM_000937:exon16:c.C2673T:p.Y891Y exonic ENSG00000181222 NA synonymous SNV ENSG00000181222:ENST00000322644:exon16:c.C2673T:p.Y891Y Score=571;Name=lod=279 NA 17p13.1 NA NA NA NA rs2071504 0.18 0.18 0.144 0.177117 0.162 0.1885 0.2334 0.1104 0.2311 0.16 0.2 0.25 0.12 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 1.2395 1.2395 NA 0.146977 0.133454 NA 0.08 NA 6.1778896 1042 10 3155353 3155353 C T exonic PFKP NA synonymous SNV PFKP:NM_002627:exon12:c.C1197T:p.I399I,PFKP:NM_001242339:exon14:c.C1173T:p.I391I exonic ENSG00000067057 NA synonymous SNV ENSG00000067057:ENST00000415005:exon7:c.C549T:p.I183I,ENSG00000067057:ENST00000381125:exon12:c.C1197T:p.I399I,ENSG00000067057:ENST00000381075:exon14:c.C1173T:p.I391I Score=300;Name=lod=22 NA 10p15.2 NA NA NA NA rs3816699 0.15 0.15 0.133 0.123003 0.162 0.0536 0.1888 0.152 0.0685 0.17 0.06 0.2 0.17 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 0.166644 NA NA 0.16593 0.1532 NA 0.087 NA 6.1774366 1042 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 1042 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 1042 11 13443250 13443250 C T exonic BTBD10 NA synonymous SNV BTBD10:NM_032320:exon3:c.G237A:p.T79T exonic ENSG00000148925 NA synonymous SNV ENSG00000148925:ENST00000528120:exon2:c.G93A:p.T31T,ENSG00000148925:ENST00000530907:exon2:c.G261A:p.T87T,ENSG00000148925:ENST00000278174:exon3:c.G237A:p.T79T,ENSG00000148925:ENST00000527102:exon3:c.G237A:p.T79T Score=613;Name=lod=412 NA 11p15.2 NA NA NA NA rs3789325 0.15 0.15 0.128 0.140176 0.1481 0.1687 0.2997 0.0545 0.1053 0.15 0.19 0.24 0.05 0.1697 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065761 NA NA 0.173731 0.066364 NA 0.116 NA 6.1751356 1043 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=ZNF263,GATA-2 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 1043 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 1043 4 2492191 2492191 T C UTR5 RNF4 NM_001185010:c.-30T>C,NM_002938:c.-30T>C,NM_001185009:c.-30T>C NA NA UTR5 ENSG00000063978 ENST00000503659:c.-30T>C,ENST00000504224:c.-30T>C,ENST00000314289:c.-30T>C,ENST00000541204:c.-30T>C,ENST00000502316:c.-30T>C,ENST00000507247:c.-30T>C,ENST00000509258:c.-30T>C,ENST00000513284:c.-30T>C,ENST00000513578:c.-30T>C,ENST00000511859:c.-30T>C,ENST00000506706:c.-30T>C,ENST00000511600:c.-30T>C,ENST00000513450:c.-30T>C NA NA NA NA 4p16.3 NA Name=c-Fos,STAT3 Name=31 NA rs34742072 0.04 0.04 0.034 0.0585064 0.0477 0.0149 0.0648 0.0333 0.1442 0.04 0.01 0.08 0.02 0.0596 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 0.315041 NA NA 0.052144 0.021727 NA 0.065 NA 6.1738894 1043 X 155004280 155004280 A G exonic SPRY3 NA synonymous SNV SPRY3:NM_005840:exon2:c.A747G:p.Q249Q exonic ENSG00000168939 NA synonymous SNV ENSG00000168939:ENST00000302805:exon2:c.A747G:p.Q249Q Score=628;Name=lod=477 NA Xq28 NA NA NA NA rs306888 0.19 0.19 0.17091 NA NA NA NA NA NA 0.28 0.02 0.21 0.25 0.215 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.13942 NA NA 0.278166 0.236042 NA 0.181 NA 6.1735006 1043 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 1043 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 1043 9 100190780 100190780 A G exonic TDRD7 NA synonymous SNV TDRD7:NM_014290:exon2:c.A33G:p.L11L exonic ENSG00000196116 NA synonymous SNV ENSG00000196116:ENST00000355295:exon2:c.A33G:p.L11L Score=634;Name=lod=505 NA 9q22.33 Score=841;Name=V$GRE_C NA NA NA rs1381532 0.57 0.57 0.544 0.544928 0.5119 0.5804 0.598 0.6127 0.4131 0.51 0.58 0.59 0.63 0.5075 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.155457 NA NA 0.475581 0.60463 NA 0.529 NA 6.1716856 1043 14 57099859 57099859 G A exonic TMEM260 NA nonsynonymous SNV TMEM260:NM_017799:exon13:c.G1694A:p.S565N exonic ENSG00000070269 NA nonsynonymous SNV ENSG00000070269:ENST00000536419:exon11:c.G296A:p.S99N,ENSG00000070269:ENST00000261556:exon13:c.G1694A:p.S565N NA NA 14q22.3 NA NA NA NA rs1041316 0.7 0.7 0.689 0.704073 0.7097 0.6597 0.6282 0.77 0.7086 0.7 0.67 0.64 0.79 0.7174 0.79 1 T 0.0 B 0.0 B 0.003 N 1.000 P -1.79 N 1.57 T -0.975 T 0.000 T 0.033 -1.492 0.017 1.69 -0.202 1.028 4.075 -1.491724 NA 1 0.734651 0.767257 NA 0.79 NA 6.1715824 1043 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 1043 12 4554413 4554413 C T exonic FGF6 NA synonymous SNV FGF6:NM_020996:exon1:c.G324A:p.G108G exonic ENSG00000111241 NA synonymous SNV ENSG00000111241:ENST00000228837:exon1:c.G324A:p.G108G Score=674;Name=lod=729 NA 12p13.32 NA NA NA NA rs11611403 0.14 0.14 0.123 0.155152 0.1451 0.0129 0.1196 0.3018 0.1391 0.16 0.02 0.11 0.27 0.1897 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.918189 NA NA 0.160465 0.26532 NA 0.13 NA 6.1714016 1043 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 1043 19 16006413 16006413 G A exonic CYP4F2 NA synonymous SNV CYP4F2:NM_001082:exon3:c.C246T:p.A82A exonic ENSG00000186115 NA synonymous SNV ENSG00000186115:ENST00000586927:exon2:c.C246T:p.A82A,ENSG00000186115:ENST00000221700:exon3:c.C246T:p.A82A NA NA 19p13.12 Score=793;Name=V$PPARG_03 NA NA NA rs3093114 0.12 0.12 0.127 0.121605 0.1759 0.0556 0.1239 0.1135 0.1431 0.16 0.07 0.17 0.1 0.149 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.848048 NA NA 0.171047 0.135043 NA 0.167 NA 6.1707196 1043 17 4337283 4337283 G A exonic SPNS3 NA synonymous SNV SPNS3:NM_182538:exon1:c.G21A:p.A7A exonic ENSG00000182557 NA synonymous SNV ENSG00000182557:ENST00000355530:exon1:c.G21A:p.A7A,ENSG00000182557:ENST00000575194:exon1:c.G21A:p.A7A NA NA 17p13.2 NA Name=Max NA NA rs35751906 0.11 0.11 0.122 0.112021 0.162 NA 0.0865 0.1846 0.0961 0.16 NA 0.09 0.19 0.1584 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.186655 NA NA 0.175779 0.175295 ID=COSM436730;OCCURENCE=1(breast) 0.152 NA 6.1704876 1043 3 174814738 174814738 G A exonic NAALADL2 NA nonsynonymous SNV NAALADL2:NM_207015:exon2:c.G202A:p.G68S exonic ENSG00000177694 NA nonsynonymous SNV ENSG00000177694:ENST00000454872:exon2:c.G202A:p.G68S,ENSG00000177694:ENST00000434257:exon4:c.G151A:p.G51S NA NA 3q26.31 NA NA NA NA rs9823911 0.38 0.38 0.349 0.377995 0.3926 0.4375 0.4179 0.2852 0.3988 0.38 0.41 0.44 0.29 0.3835 0.44 1 T 0.0 B 0.001 B 0.466 N 1.000 P 0.345 N 1.62 T -0.918 T 0.000 T 0.019 0.706 7.764 0.957 -0.042 0.523 5.898 0.706087 NA 1 0.386893 0.270185 NA 0.275 NA 6.1703404 1043 18 9888069 9888069 A G exonic TXNDC2 NA synonymous SNV TXNDC2:NM_001098529:exon2:c.A1593G:p.E531E,TXNDC2:NM_032243:exon2:c.A1392G:p.E464E exonic ENSG00000168454 NA synonymous SNV ENSG00000168454:ENST00000306084:exon2:c.A1593G:p.E531E,ENSG00000168454:ENST00000357775:exon2:c.A1392G:p.E464E Score=441;Name=lod=83 NA 18p11.22 Score=874;Name=V$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 1043 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 1043 10 73406504 73406504 T C exonic CDH23 NA synonymous SNV CDH23:NM_052836:exon13:c.T1579C:p.L527L exonic ENSG00000107736 NA synonymous SNV ENSG00000107736:ENST00000398809:exon14:c.T1579C:p.L527L,ENSG00000107736:ENST00000398842:exon14:c.T1579C:p.L527L,ENSG00000107736:ENST00000461841:exon14:c.T1714C:p.L572L NA NA 10q22.1 NA NA NA NA rs2305209 0.12 0.12 0.11 0.120607 0.1779 0.0516 0.1066 0.1036 0.1656 0.18 0.06 0.1 0.1 0.1521 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24178 NA NA 0.167397 0.111609 NA 0.152 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039103.1;CLNDSDB=.;CLNDSDBID=. 6.1692696 1043 10 16547058 16547058 A G exonic PTER NA synonymous SNV PTER:NM_001261838:exon3:c.A291G:p.Q97Q,PTER:NM_001261836:exon4:c.A738G:p.Q246Q,PTER:NM_001001484:exon5:c.A738G:p.Q246Q,PTER:NM_030664:exon5:c.A738G:p.Q246Q exonic ENSG00000165983 NA synonymous SNV ENSG00000165983:ENST00000298942:exon3:c.A738G:p.Q246Q,ENSG00000165983:ENST00000535784:exon4:c.A738G:p.Q246Q,ENSG00000165983:ENST00000378000:exon5:c.A738G:p.Q246Q Score=620;Name=lod=442 NA 10p13 Score=891;Name=V$CEBPB_02 NA NA NA rs7904014 0.63 0.63 0.62 0.65635 0.4771 0.8264 0.5793 0.6392 0.7434 0.47 0.85 0.59 0.63 0.5558 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.811632 NA NA 0.464767 0.593736 NA 0.536 NA 6.1689996 1043 20 20033380 20033380 A G exonic CRNKL1 NA synonymous SNV CRNKL1:NM_016652:exon2:c.T90C:p.S30S exonic ENSG00000101343 NA synonymous SNV ENSG00000101343:ENST00000377340:exon2:c.T90C:p.S30S NA NA 20p11.23 NA Name=Znf143_(16618-1-AP),GABP,KAP1,HA-E2F1,E2F6,CEBPB,c-Fos,YY1_(C-20),Sin3Ak-20,SIX5 Name=148 NA rs3817995 0.54 0.54 0.518 0.51897 0.4871 0.7024 0.549 0.4425 0.4448 0.49 0.7 0.52 0.44 0.5405 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868842 NA NA 0.470127 0.42461 NA 0.529 NA 6.1689396 1043 10 11789290 11789290 G C intronic ECHDC3 NA NA NA UTR5 ENSG00000134463 ENST00000422887:c.-107G>C NA NA Score=295;Name=lod=21 NA 10p14 NA Name=GR Name=26 NA rs4750089 0.94 0.94 0.927 0.922324 0.998 1 0.9769 0.7201 0.999 1 1 0.98 0.74 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.991459 NA NA NA NA NA 0.906 NA 6.1686667 1043 7 77423574 77423574 G A exonic TMEM60 NA synonymous SNV TMEM60:NM_032936:exon2:c.C117T:p.F39F exonic ENSG00000135211 NA synonymous SNV ENSG00000135211:ENST00000257663:exon2:c.C117T:p.F39F Score=718;Name=lod=1102 NA 7q11.23 NA NA Name=8 NA rs7953 0.52 0.52 0.546 0.566693 0.508 0.3165 0.4424 0.8646 0.5706 0.49 0.31 0.43 0.87 0.4985 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.769136 NA NA 0.491512 0.79301 NA 0.594 NA 6.1686546 1043 6 137026266 137026266 T G exonic MAP3K5 NA synonymous SNV MAP3K5:NM_005923:exon3:c.A594C:p.I198I exonic ENSG00000197442 NA synonymous SNV ENSG00000197442:ENST00000359015:exon3:c.A594C:p.I198I Score=551;Name=lod=231 NA 6q23.3 Score=811;Name=V$HNF1_C NA NA NA rs9321567 0.6 0.6 0.601 0.641374 0.4652 0.5823 0.647 0.798 0.6677 0.47 0.56 0.65 0.8 0.5449 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 0.903698 NA NA 0.488028 0.747767 NA 0.623 NA 6.1685386 1043 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 1043 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=USF-1,SRF 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 1043 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 1043 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 1043 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 1043 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 1043 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 1043 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 1043 1 118166096 118166096 C T exonic FAM46C NA synonymous SNV FAM46C:NM_017709:exon2:c.C606T:p.I202I exonic ENSG00000183508 NA synonymous SNV ENSG00000183508:ENST00000369448:exon2:c.C606T:p.I202I Score=383;Name=lod=48 NA 1p12 NA NA NA NA rs2884587 0.12 0.12 0.097 0.134385 0.164 0.1141 0.2233 0.0159 0.2219 0.16 0.11 0.19 0.02 0.1704 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 0.289265 NA NA 0.165465 0.047889 NA 0.109 NA 6.1668016 1043 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 1043 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 1043 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 1043 5 175786480 175786480 T A intronic KIAA1191 NA NA NA UTR5 ENSG00000122203 ENST00000503082:c.-3757A>T NA NA Score=525;Name=lod=182 NA 5q35.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.986276 2.986276 NA NA NA NA NA NA 6.1666667 1043 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=KAP1,USF1_(SC-8983),Pol2,USF-1 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 1043 7 130418525 130418525 G A exonic KLF14 NA synonymous SNV KLF14:NM_138693:exon1:c.C336T:p.S112S exonic ENSG00000174595 NA synonymous SNV ENSG00000174595:ENST00000310992:exon1:c.C336T:p.S112S NA NA 7q32.3 NA Name=Egr-1,CTCFL_(SC-98982),CTCF,E2F6_(H-50),CTCF_(C-20) Name=34 NA rs76603546 0.42 0.42 0.402 0.385383 0.498 0.5397 0.4697 0.1067 0.4274 0.49 0.57 0.45 0.11 0.5412 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.406682 1.406682 NA 0.461023 0.172504 NA 0.225 NA 6.1664436 1043 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=eGFP-JunD,c-Myc,TBP,eGFP-FOS,c-Fos,HDAC2_(SC-6296),GTF2B,E2F6_(H-50),MafK_(ab50322),Pol2,p300_(F-4),ELF1_(SC-631),NF-E2,c-Jun,eGFP-JunB 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 1043 4 73942678 73942678 C T exonic ANKRD17 NA synonymous SNV ANKRD17:NM_198889:exon32:c.G6978A:p.T2326T,ANKRD17:NM_032217:exon33:c.G7731A:p.T2577T exonic ENSG00000132466 NA synonymous SNV ENSG00000132466:ENST00000330838:exon32:c.G6978A:p.T2326T,ENSG00000132466:ENST00000358602:exon33:c.G7731A:p.T2577T,ENSG00000132466:ENST00000509867:exon33:c.G7392A:p.T2464T Score=699;Name=lod=922 NA 4q13.3 NA NA NA NA rs2306058 0.18 0.18 0.16 0.176518 0.165 0.2877 0.2205 0.0136 0.2628 0.16 0.3 0.24 0.01 0.1709 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.914525 NA NA 0.164535 0.038811 NA 0.312 NA 6.1662316 1043 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$ZIC2_01 Name=Pol2 NA NA rs2070203 0.46 0.46 0.453 0.425319 0.5338 0.4256 0.4078 0.438 0.3088 0.53 0.4 0.42 0.46 0.4659 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.796242 NA NA 0.500814 0.47111 NA 0.391 NA 6.1661526 1043 1 94473845 94473845 T C exonic ABCA4 NA synonymous SNV ABCA4:NM_000350:exon42:c.A5844G:p.P1948P exonic ENSG00000198691 NA synonymous SNV ENSG00000198691:ENST00000535881:exon5:c.A201G:p.P67P,ENSG00000198691:ENST00000536513:exon7:c.A654G:p.P218P,ENSG00000198691:ENST00000370225:exon42:c.A5844G:p.P1948P Score=389;Name=lod=51 NA 1p22.1 NA NA NA NA rs2275029 0.19 0.19 0.158 0.167133 0.1441 0.12 0.1585 0.264 0.1145 0.16 0.16 0.19 0.25 0.1748 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.467435 1.467435 NA 0.18186 0.234453 ID=COSM146561;OCCURENCE=1(stomach) 0.174 NA 6.1659066 1043 16 1260481 1260481 T C exonic CACNA1H NA synonymous SNV CACNA1H:NM_001005407:exon19:c.T3957C:p.D1319D,CACNA1H:NM_021098:exon19:c.T3957C:p.D1319D exonic ENSG00000196557 NA synonymous SNV ENSG00000196557:ENST00000565831:exon18:c.T3957C:p.D1319D,ENSG00000196557:ENST00000348261:exon19:c.T3957C:p.D1319D,ENSG00000196557:ENST00000358590:exon19:c.T3957C:p.D1319D Score=358;Name=lod=38 NA 16p13.3 NA Name=USF-1 NA NA rs8063574 0.9 0.9 0.907 0.919928 0.826 1 0.8501 0.9372 0.9601 0.82 1 0.85 0.95 0.8601 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281132 NA NA 0.814841 0.910304 NA 0.138 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082071.1;CLNDSDB=.;CLNDSDBID=. 6.1657256 1043 3 119128398 119128398 G A exonic ARHGAP31 NA synonymous SNV ARHGAP31:NM_020754:exon11:c.G1701A:p.P567P exonic ENSG00000031081 NA synonymous SNV ENSG00000031081:ENST00000264245:exon11:c.G1701A:p.P567P NA NA 3q13.33 Score=760;Name=V$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 1043 14 50585248 50585248 C T exonic SOS2 NA synonymous SNV SOS2:NM_006939:exon23:c.G3813A:p.P1271P exonic ENSG00000100485 NA synonymous SNV ENSG00000100485:ENST00000543680:exon22:c.G3714A:p.P1238P,ENSG00000100485:ENST00000216373:exon23:c.G3813A:p.P1271P Score=550;Name=lod=229 NA 14q21.3 NA NA NA NA rs2227276 0.23 0.23 0.218 0.243211 0.1461 0.4315 0.2435 0.2201 0.18 0.14 0.41 0.2 0.19 0.198 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137417 NA NA 0.157558 0.200409 NA 0.145 NA 6.1650086 1044 9 139306467 139306467 C T exonic PMPCA NA synonymous SNV PMPCA:NM_015160:exon2:c.C90T:p.Y30Y exonic ENSG00000165688 NA synonymous SNV ENSG00000165688:ENST00000371717:exon2:c.C90T:p.Y30Y,ENSG00000165688:ENST00000371720:exon2:c.C90T:p.Y30Y Score=422;Name=lod=69 NA 9q34.3 NA NA NA NA rs10870144 0.14 0.14 0.118 0.138978 0.1581 0.1419 0.2651 0.0333 0.1697 0.18 0.13 0.22 0.04 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 -0.149591 NA NA 0.173953 0.052655 NA 0.072 NA 6.1649136 1044 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 1044 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 1044 2 85924729 85924729 C T exonic GNLY NA nonsynonymous SNV GNLY:NM_006433:exon4:c.C356T:p.T119I,GNLY:NM_012483:exon5:c.C311T:p.T104I exonic ENSG00000115523 NA nonsynonymous SNV ENSG00000115523:ENST00000263863:exon4:c.C356T:p.T119I,ENSG00000115523:ENST00000409696:exon5:c.C311T:p.T104I,ENSG00000115523:ENST00000524600:exon5:c.C437T:p.T146I NA NA 2p11.2 NA NA NA NA rs11127 0.37 0.37 0.339 0.34365 0.4046 0.5933 0.402 0.0628 0.362 0.41 0.58 0.4 0.05 0.3822 0.58 0.46 T 0.026 B 0.024 B 0.413 U 1.000 P 0.695 N -0.13 T -0.915 T 0.000 T 0.213 0.232 5.252 0.274 0.060 0.577 3.451 0.231888 NA 0.2 0.381977 0.111439 NA 0.333 NA 6.1645564 1044 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 1044 6 57393125 57393125 A G exonic PRIM2 NA unknown UNKNOWN exonic ENSG00000146143 NA nonsynonymous SNV ENSG00000146143:ENST00000607273:exon9:c.A775G:p.S259G Score=513;Name=lod=162 NA 6p11.2 NA NA NA NA rs927192 NA NA 0.55 NA NA NA NA NA NA NA NA NA NA 0.5028 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.412293 2.412293 1 NA NA NA 0.377 NA 6.1638667 1044 2 54858664 54858664 C T exonic SPTBN1 NA synonymous SNV SPTBN1:NM_178313:exon15:c.C3441T:p.N1147N,SPTBN1:NM_003128:exon16:c.C3480T:p.N1160N exonic ENSG00000115306 NA synonymous SNV ENSG00000115306:ENST00000333896:exon15:c.C3441T:p.N1147N,ENSG00000115306:ENST00000356805:exon16:c.C3480T:p.N1160N Score=600;Name=lod=365 NA 2p16.2 NA NA NA NA rs2229503 0.12 0.12 0.117 0.115415 0.174 0.0813 0.0951 0.1339 0.0798 0.16 0.09 0.1 0.11 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 0.58652 NA NA 0.185349 0.13005 NA 0.261 NA 6.1626176 1044 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 1044 6 31506624 31506624 T C exonic DDX39B NA synonymous SNV DDX39B:NM_004640:exon4:c.A348G:p.V116V,DDX39B:NM_080598:exon4:c.A348G:p.V116V exonic ENSG00000198563 NA synonymous SNV ENSG00000198563:ENST00000376177:exon3:c.A348G:p.V116V,ENSG00000198563:ENST00000453105:exon3:c.A207G:p.V69V,ENSG00000198563:ENST00000396172:exon4:c.A348G:p.V116V,ENSG00000198563:ENST00000419338:exon4:c.A348G:p.V116V,ENSG00000198563:ENST00000427214:exon4:c.A348G:p.V116V,ENSG00000198563:ENST00000428098:exon4:c.A348G:p.V116V,ENSG00000198563:ENST00000428450:exon4:c.A432G:p.V144V,ENSG00000198563:ENST00000449757:exon4:c.A417G:p.V139V,ENSG00000198563:ENST00000456662:exon4:c.A348G:p.V116V,ENSG00000198563:ENST00000458640:exon4:c.A348G:p.V116V,ENSG00000198563:ENST00000417556:exon5:c.A393G:p.V131V,ENSG00000198563:ENST00000418897:exon5:c.A393G:p.V131V,ENSG00000198563:ENST00000456976:exon5:c.A348G:p.V116V Score=663;Name=lod=657 NA 6p21.33 Score=747;Name=V$TCF11MAFG_01 Name=Pol2-4H8 NA NA rs1129640 0.87 0.87 0.883 0.878794 0.83 0.9028 0.8833 0.8782 0.9018 0.83 0.91 0.88 0.89 0.8554 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.700007 1.700007 NA 0.81907 0.876986 ID=COSM1283624;OCCURENCE=1(autonomic_ganglia) 0.913 NA 6.1621966 1044 15 81625385 81625385 C T exonic TMC3 NA nonsynonymous SNV TMC3:NM_001080532:exon22:c.G2678A:p.C893Y exonic ENSG00000188869 NA nonsynonymous SNV ENSG00000188869:ENST00000359440:exon22:c.G2678A:p.C893Y,ENSG00000188869:ENST00000558726:exon22:c.G2681A:p.C894Y NA NA 15q25.1 NA NA NA NA rs11636318 0.55 0.55 0.514 0.471046 0.7584 0.4782 0.5951 0.2277 0.409 0.76 0.47 0.65 0.24 0.6456 0.77 0.03 D 0.0 B 0.0 B 0.722 U 1.000 P 0 N -0.0 T -0.943 T 0.000 T 0.075 1.191 9.839 -1.28 -0.264 0.726 10.804 1.190567 NA 0.1 0.767425 0.310642 NA 0.493 NA 6.1619084 1044 2 98853173 98853173 G A exonic VWA3B NA nonsynonymous SNV VWA3B:NM_144992:exon19:c.G2653A:p.V885M exonic ENSG00000168658 NA nonsynonymous SNV ENSG00000168658:ENST00000477737:exon19:c.G2653A:p.V885M NA NA 2q11.2 NA NA NA NA rs11889349 0.6 0.6 0.633 0.664137 0.5447 0.7976 0.4914 0.621 0.8303 0.52 0.77 0.5 0.62 0.5822 0.77 0.21 T 0.827 P 0.169 B 0.522 N 1.000 P 1.175 L 3.2 T -1.002 T 0.000 T 0.154 -0.796 0.687 0.946 -0.049 0.250 4.495 -0.795959 NA 0.2 0.54489 0.611692 NA 0.551 NA 6.1615434 1044 5 82834630 82834630 T C exonic VCAN NA synonymous SNV VCAN:NM_001164097:exon7:c.T2847C:p.G949G,VCAN:NM_004385:exon8:c.T5808C:p.G1936G exonic ENSG00000038427 NA synonymous SNV ENSG00000038427:ENST00000343200:exon7:c.T2847C:p.G949G,ENSG00000038427:ENST00000513960:exon7:c.T2847C:p.G949G,ENSG00000038427:ENST00000265077:exon8:c.T5808C:p.G1936G Score=358;Name=lod=38 NA 5q14.3 Score=849;Name=V$CREB_02 NA NA NA rs309557 0.48 0.48 0.483 0.46865 0.5258 0.3919 0.5288 0.5023 0.4008 0.52 0.42 0.54 0.46 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 1.003671 NA NA 0.495698 0.50227 NA 0.449 NA 6.1613686 1044 3 48488192 48488192 G C UTR5 ATRIP NM_001271022:c.-4943G>C,NM_130384:c.-58G>C,NM_032166:c.-58G>C NA NA UTR5 ENSG00000164053 ENST00000454733:c.-3283G>C,ENST00000421175:c.-3283G>C,ENST00000346691:c.-58G>C,ENST00000320211:c.-58G>C,ENST00000357105:c.-4943G>C,ENST00000424906:c.-3283G>C NA NA NA NA 3p21.31 NA Name=NF-YB,BRCA1_(C-1863),YY1,CCNT2,TBP,Pol2(b),Mxi1_(bHLH),E2F4,Sin3Ak-20,SRF,IRF1,SP1,c-Myc,YY1_(C-20),Max,TCF4,E2F1,ATF3,Pbx3,HEY1,ELF1_(SC-631),NF-YA,Pol2-4H8,GABP,NFKB,HMGN3,TAF1,E2F6_(H-50),TAF7_(SQ-8),CHD2_(N-1250),HA-E2F1,Pol2(phosphoS2),Pol2 Name=139 NA rs72622933 0.12 0.12 0.114 0.133586 0.172 0.0585 0.1916 0.0408 0.2556 0.16 0.05 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 0.949825 NA NA NA NA NA 0.029 NA 6.1613334 1044 4 103225513 103225513 T C exonic SLC39A8 NA synonymous SNV SLC39A8:NM_001135148:exon5:c.A600G:p.G200G,SLC39A8:NM_022154:exon5:c.A801G:p.G267G,SLC39A8:NM_001135146:exon6:c.A801G:p.G267G,SLC39A8:NM_001135147:exon6:c.A801G:p.G267G exonic ENSG00000138821 NA synonymous SNV ENSG00000138821:ENST00000394833:exon5:c.A801G:p.G267G,ENSG00000138821:ENST00000356736:exon6:c.A801G:p.G267G,ENSG00000138821:ENST00000424970:exon6:c.A801G:p.G267G Score=512;Name=lod=161 NA 4q24 NA NA NA NA rs11097773 0.13 0.13 0.116 0.144968 0.1541 0.1181 0.1772 0.0915 0.2127 0.14 0.12 0.19 0.08 0.1754 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 1.325432 1.325432 NA 0.17593 0.094417 NA 0.123 NA 6.1612366 1044 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 1044 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 1044 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 1044 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$ARNT_02 NA NA NA rs2289234 0.54 0.54 0.502 0.509784 0.504 0.8155 0.5331 0.2277 0.5654 0.51 0.82 0.49 0.28 0.5193 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.009406 NA NA 0.483605 0.249433 NA 0.399 NA 6.1597616 1044 5 137733891 137733891 A G exonic KDM3B NA synonymous SNV KDM3B:NM_016604:exon10:c.A2856G:p.V952V exonic ENSG00000120733 NA synonymous SNV ENSG00000120733:ENST00000394866:exon5:c.A1824G:p.V608V,ENSG00000120733:ENST00000314358:exon10:c.A2856G:p.V952V Score=655;Name=lod=610 NA 5q31.2 NA NA NA NA rs17294563 0.09 0.09 0.095 0.111621 0.171 0.0228 0.1037 0.0091 0.2863 0.18 0.02 0.1 0.02 0.1563 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.302156 1.302156 NA 0.179767 0.044031 NA 0.181 NA 6.1595996 1044 2 231738269 231738269 G A exonic ITM2C NA synonymous SNV ITM2C:NM_001012516:exon2:c.G258A:p.A86A,ITM2C:NM_030926:exon2:c.G258A:p.A86A exonic ENSG00000135916 NA synonymous SNV ENSG00000135916:ENST00000326407:exon2:c.G258A:p.A86A,ENSG00000135916:ENST00000326427:exon2:c.G258A:p.A86A,ENSG00000135916:ENST00000409704:exon2:c.G72A:p.A24A,ENSG00000135916:ENST00000418408:exon2:c.G72A:p.A24A,ENSG00000135916:ENST00000541852:exon2:c.G72A:p.A24A,ENSG00000135916:ENST00000543957:exon2:c.G72A:p.A24A,ENSG00000135916:ENST00000457215:exon3:c.G258A:p.A86A Score=493;Name=lod=135 NA 2q37.1 Score=954;Name=V$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 1044 17 2868935 2868935 T C exonic RAP1GAP2 NA synonymous SNV RAP1GAP2:NM_001100398:exon7:c.T549C:p.L183L,RAP1GAP2:NM_015085:exon8:c.T594C:p.L198L exonic ENSG00000132359 NA synonymous SNV ENSG00000132359:ENST00000366401:exon7:c.T549C:p.L183L,ENSG00000132359:ENST00000254695:exon8:c.T594C:p.L198L,ENSG00000132359:ENST00000540393:exon8:c.T537C:p.L179L,ENSG00000132359:ENST00000542807:exon8:c.T594C:p.L198L Score=425;Name=lod=71 NA 17p13.3 NA Name=p300,c-Myc,GATA3_(SC-268) Name=12 NA rs12950923 0.81 0.81 0.791 0.801118 0.8419 0.8819 0.8487 0.6967 0.7832 0.83 0.86 0.85 0.7 0.8251 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 0.609904 NA NA 0.840958 0.725301 NA 0.768 NA 6.1587086 1044 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$HNF3B_01 NA NA NA rs7734532 0.63 0.63 0.59 0.618211 0.4781 0.9524 0.6268 0.4584 0.6278 0.48 0.97 0.58 0.49 0.5545 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250294 NA NA 0.476047 0.484105 NA 0.529 NA 6.1580196 1044 22 50439194 50439194 C T exonic IL17REL NA nonsynonymous SNV IL17REL:NM_001001694:exon5:c.G208A:p.G70R exonic ENSG00000188263 NA nonsynonymous SNV ENSG00000188263:ENST00000341280:exon3:c.G208A:p.G70R,ENSG00000188263:ENST00000389983:exon5:c.G208A:p.G70R NA NA 22q13.33 NA NA NA NA rs9617090 0.31 0.31 0.276 0.265176 0.4115 0.3343 0.2968 0.1384 0.1922 0.4 0.35 0.29 0.13 0.3475 0.42 0.53 T 0.0 B 0.0 B 0.927 U 1.000 P -0.69 N 2.59 T -0.905 T 0.000 T 0.028 0.05 4.275 -0.699 0.068 -0.148 3.721 0.050173 NA 0.49 0.417055 0.184175 NA 0.319 NA 6.1572784 1044 19 17212992 17212992 C T exonic MYO9B NA synonymous SNV MYO9B:NM_001130065:exon2:c.C465T:p.P155P,MYO9B:NM_004145:exon2:c.C465T:p.P155P exonic ENSG00000099331 NA synonymous SNV ENSG00000099331:ENST00000397274:exon1:c.C465T:p.P155P,ENSG00000099331:ENST00000595641:exon1:c.C465T:p.P155P,ENSG00000099331:ENST00000594824:exon2:c.C465T:p.P155P,ENSG00000099331:ENST00000595618:exon2:c.C465T:p.P155P NA NA 19p13.11 NA NA Name=2 NA rs3745349 0.11 0.11 0.088 0.0844649 0.1849 0.0129 0.1297 0.0219 0.1074 0.21 0.01 0.15 0.03 0.1411 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143795 NA NA 0.183966 0.057559 NA 0.036 NA 6.1567006 1044 3 188590446 188590446 A G exonic LPP NA synonymous SNV LPP:NM_001167672:exon9:c.A1164G:p.R388R,LPP:NM_001167671:exon10:c.A1605G:p.R535R,LPP:NM_005578:exon10:c.A1605G:p.R535R exonic ENSG00000145012 NA synonymous SNV ENSG00000145012:ENST00000312675:exon10:c.A1605G:p.R535R,ENSG00000145012:ENST00000543006:exon10:c.A1605G:p.R535R Score=547;Name=lod=222 NA 3q28 Score=838;Name=V$GR_Q6 NA NA NA rs1136644 0.42 0.42 0.418 0.400359 0.5298 0.4345 0.3919 0.2602 0.4274 0.54 0.43 0.4 0.26 0.4733 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.543959 1.543959 NA 0.506977 0.282342 NA 0.464 NA 6.1565896 1044 3 112997554 112997554 A G exonic BOC NA synonymous SNV BOC:NM_033254:exon11:c.A1737G:p.K579K exonic ENSG00000144857 NA synonymous SNV ENSG00000144857:ENST00000273395:exon11:c.A1740G:p.K580K,ENSG00000144857:ENST00000355385:exon11:c.A1737G:p.K579K,ENSG00000144857:ENST00000495514:exon11:c.A1737G:p.K579K Score=524;Name=lod=180 NA 3q13.2 NA Name=PU.1 NA NA rs775228 0.6 0.6 0.615 0.620407 0.4781 0.7183 0.5418 0.7663 0.5245 0.5 0.71 0.5 0.73 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 1.555377 1.555377 NA 0.45075 0.736505 NA 0.558 NA 6.1558166 1045 17 1585130 1585130 A G exonic PRPF8 NA synonymous SNV PRPF8:NM_006445:exon5:c.T637C:p.L213L exonic ENSG00000174231 NA synonymous SNV ENSG00000174231:ENST00000577001:exon3:c.T472C:p.L158L,ENSG00000174231:ENST00000572621:exon4:c.T637C:p.L213L,ENSG00000174231:ENST00000304992:exon5:c.T637C:p.L213L Score=655;Name=lod=612 NA 17p13.3 NA NA NA NA rs11559305 0.23 0.23 0.24 0.250399 0.1501 0.0893 0.1254 0.6029 0.1319 0.16 0.07 0.12 0.61 0.1871 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.917169 NA NA 0.174884 0.513845 NA 0.268 NA 6.1545826 1045 4 103228734 103228734 C T exonic SLC39A8 NA synonymous SNV SLC39A8:NM_001135148:exon3:c.G210A:p.T70T,SLC39A8:NM_022154:exon3:c.G411A:p.T137T,SLC39A8:NM_001135146:exon4:c.G411A:p.T137T,SLC39A8:NM_001135147:exon4:c.G411A:p.T137T exonic ENSG00000138821 NA synonymous SNV ENSG00000138821:ENST00000394833:exon3:c.G411A:p.T137T,ENSG00000138821:ENST00000356736:exon4:c.G411A:p.T137T,ENSG00000138821:ENST00000424970:exon4:c.G411A:p.T137T NA NA 4q24 Score=840;Name=V$CDP_02 NA NA NA rs35411892 0.15 0.15 0.15 0.163938 0.1551 0.1171 0.1844 0.1604 0.2117 0.14 0.12 0.2 0.17 0.1813 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.412737 NA NA 0.176047 0.156151 NA 0.152 NA 6.1542196 1045 7 28996944 28996944 T C exonic TRIL NA unknown UNKNOWN ncRNA_exonic ENSG00000176734,ENSG00000255690 NA NA NA Score=526;Name=lod=183 NA 7p14.3 Score=820;Name=V$CMYB_01 NA Name=21 NA rs740250 0.86 0.86 NA 0.846446 0.832 0.87 0.7925 0.9244 0.7699 0.83 0.88 0.81 0.92 0.8473 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 2.291583 2.291583 NA NA NA NA 0.775 NA 6.1540333 1045 12 130912757 130912757 C T exonic RIMBP2 NA synonymous SNV RIMBP2:NM_015347:exon12:c.G2328A:p.R776R exonic ENSG00000060709 NA synonymous SNV ENSG00000060709:ENST00000261655:exon12:c.G2328A:p.R776R Score=381;Name=lod=47 NA 12q24.33 NA NA NA NA rs2277356 0.27 0.27 0.256 0.288738 0.165 0.4077 0.3429 0.2148 0.3548 0.16 0.4 0.34 0.23 0.2179 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090496 NA NA 0.129767 0.212892 ID=COSM430736;OCCURENCE=1(breast) 0.21 NA 6.1539996 1045 9 136536793 136536793 C G exonic SARDH NA synonymous SNV SARDH:NM_001134707:exon18:c.G2190C:p.V730V,SARDH:NM_007101:exon18:c.G2190C:p.V730V exonic ENSG00000123453 NA synonymous SNV ENSG00000123453:ENST00000371868:exon6:c.G474C:p.V158V,ENSG00000123453:ENST00000422262:exon17:c.G1686C:p.V562V,ENSG00000123453:ENST00000371872:exon18:c.G2190C:p.V730V,ENSG00000123453:ENST00000439388:exon18:c.G2190C:p.V730V Score=582;Name=lod=310 NA 9q34.2 Score=749;Name=V$PPARA_01 NA NA NA rs2519123 0.63 0.63 0.619 0.628395 0.4781 0.7976 0.6009 0.708 0.5204 0.48 0.79 0.59 0.72 0.5734 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.825381 NA NA 0.461404 0.637027 NA 0.623 NA 6.1537626 1045 3 46490474 46490474 G A exonic LTF NA synonymous SNV LTF:NM_001199149:exon9:c.C960T:p.V320V,LTF:NM_002343:exon9:c.C1092T:p.V364V exonic ENSG00000012223 NA synonymous SNV ENSG00000012223:ENST00000231751:exon9:c.C1092T:p.V364V,ENSG00000012223:ENST00000417439:exon9:c.C1092T:p.V364V,ENSG00000012223:ENST00000426532:exon9:c.C960T:p.V320V,ENSG00000012223:ENST00000443496:exon12:c.C1053T:p.V351V NA NA 3p21.31 Score=888;Name=V$MYCMAX_02 NA NA NA rs2230894 0.21 0.21 0.179 0.215655 0.162 0.2034 0.2651 0.1959 0.2751 0.17 0.22 0.26 0.23 0.1948 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.101629 NA NA 0.156192 0.192098 NA 0.159 NA 6.1536746 1045 8 33371053 33371053 A G upstream TTI2 NA NA NA ncRNA_exonic ENSG00000239039 NA NA NA NA NA 8p12 NA Name=USF1_(SC-8983),FOXA1_(SC-101058),Pol2,FOXA1_(C-20),FOSL2,USF-1,Pol2(phosphoS2),POU2F2,GTF2B,p300,TCF12,HDAC2_(SC-6296),TAF7_(SQ-8),BCL11A,EBF1_(C-8),Pol2-4H8,eGFP-JunB,MEF2A,c-Jun,TAF1,IRF4_(M-17),NFKB,BCL3,Pbx3,GATA-1,BCLAF1_(M33-P5B11),KAP1,HEY1,NF-YA,ELF1_(SC-631),ETS1,HNF4G_(SC-6558),c-Myc,Oct-2,BATF,SRF,SP1,IRF1,p300_(N-15),Max,GCN5,ZBTB33,YY1_(C-20),MEF2C_(SC-13268),NRSF,GATA3_(SC-268),Sin3Ak-20,RXRA,eGFP-JunD,YY1,NANOG_(SC-33759),NF-YB,RPC155,HNF4A_(H-171),Pol2(b),EBF,CCNT2,TBP,Egr-1,TR4,JunD,SIRT6,BHLHE40,ZNF263,GR,GTF2F1_(RAP-74) Name=148 NA rs11785250 0.0032 0.0032 NA NA NA NA NA NA NA 0.0026 0.0035 0.01 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 -1.296383 NA NA 0.007534 0.002854 NA NA NA 6.1536326 1045 3 119378977 119378977 G A exonic POPDC2 NA synonymous SNV POPDC2:NM_022135:exon1:c.C294T:p.R98R exonic ENSG00000121577 NA synonymous SNV ENSG00000121577:ENST00000264231:exon1:c.C294T:p.R98R,ENSG00000121577:ENST00000341124:exon1:c.C294T:p.R98R,ENSG00000121577:ENST00000468801:exon1:c.C294T:p.R98R,ENSG00000121577:ENST00000493094:exon1:c.C294T:p.R98R,ENSG00000121577:ENST00000538678:exon1:c.C294T:p.R98R Score=376;Name=lod=45 NA 3q13.33 NA NA NA NA rs2873788 0.08 0.08 0.074 0.0836661 0.164 0.001 0.0951 0.0166 0.1687 0.17 NA 0.12 0.02 0.1554 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 0.532524 NA NA 0.193837 0.037222 NA 0.065 NA 6.1534296 1045 11 20112492 20112492 G A exonic NAV2 NA synonymous SNV NAV2:NM_001111019:exon17:c.G2772A:p.T924T,NAV2:NM_001111018:exon27:c.G5388A:p.T1796T,NAV2:NM_145117:exon27:c.G5580A:p.T1860T,NAV2:NM_182964:exon27:c.G5589A:p.T1863T,NAV2:NM_001244963:exon29:c.G5757A:p.T1919T exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000311043:exon16:c.G2772A:p.T924T,ENSG00000166833:ENST00000533917:exon17:c.G2772A:p.T924T,ENSG00000166833:ENST00000349880:exon27:c.G5580A:p.T1860T,ENSG00000166833:ENST00000360655:exon27:c.G5388A:p.T1796T,ENSG00000166833:ENST00000396085:exon28:c.G5589A:p.T1863T,ENSG00000166833:ENST00000396087:exon30:c.G5757A:p.T1919T,ENSG00000166833:ENST00000527559:exon31:c.G5544A:p.T1848T,ENSG00000166833:ENST00000540292:exon31:c.G5550A:p.T1850T NA NA 11p15.1 Score=756;Name=V$TAXCREB_02 NA Name=2 NA rs1837971 0.44 0.44 0.44 0.499002 0.5139 0.3254 0.4207 0.4796 0.7444 0.51 0.35 0.41 0.46 0.5095 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.863816 NA NA 0.490233 0.504312 NA 0.449 NA 6.1530336 1045 16 2160503 2160503 T G exonic PKD1 NA synonymous SNV PKD1:NM_000296:exon15:c.A4665C:p.A1555A,PKD1:NM_001009944:exon15:c.A4665C:p.A1555A exonic ENSG00000008710 NA synonymous SNV ENSG00000008710:ENST00000262304:exon15:c.A4665C:p.A1555A,ENSG00000008710:ENST00000423118:exon15:c.A4665C:p.A1555A Score=420;Name=lod=68 NA 16p13.3 NA NA NA NA rs71385734 0.21 0.21 0.213 0.221645 0.167 NA 0.1787 0.556 0.0849 0.17 NA 0.2 0.52 0.1687 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384432 NA NA 0.179096 0.484973 ID=COSM1376565;OCCURENCE=1(large_intestine) 0.304 NA 6.1518706 1045 3 108107925 108107925 C A intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA Score=325;Name=lod=28 NA 3q13.13 NA Name=PAX5-C20,EBF1_(C-8) Name=29 NA rs7616341 0.2 0.2 0.192 0.204073 0.3111 0.0119 0.2003 0.2383 0.2485 0.32 0.0035 0.24 0.22 0.2488 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.67049 2.67049 NA 0.288844 0.228158 NA 0.203 NA 6.151256 1045 7 1132153 1132153 G A exonic GPER NA synonymous SNV GPER:NM_001098201:exon2:c.G789A:p.A263A,GPER:NM_001505:exon2:c.G789A:p.A263A,GPER:NM_001039966:exon3:c.G789A:p.A263A exonic ENSG00000164850 NA synonymous SNV ENSG00000164850:ENST00000297469:exon2:c.G789A:p.A263A,ENSG00000164850:ENST00000397088:exon2:c.G789A:p.A263A,ENSG00000164850:ENST00000401670:exon2:c.G789A:p.A263A,ENSG00000164850:ENST00000397092:exon3:c.G789A:p.A263A NA NA 7p22.3 Score=768;Name=V$PAX4_04 NA NA NA rs3808352 0.11 0.11 0.12 0.114217 0.1759 0.1121 0.1427 0.0287 0.1483 0.16 0.09 0.15 0.02 0.1536 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 -0.565994 NA NA 0.18593 0.047889 NA 0.08 NA 6.1512366 1045 6 28227145 28227145 G C UTR5 NKAPL NM_001007531:c.-5G>C NA NA UTR5 ENSG00000189134 ENST00000343684:c.-5G>C NA NA NA NA 6p22.1 NA Name=Pol2,GABP,ELF1_(SC-631),Egr-1 Name=96 NA rs41269289 0.03 0.03 0.025 0.024361 0.0716 0.004 0.0303 0.0038 0.0204 0.07 0.0035 0.02 0.01 0.0532 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 -0.198914 NA NA 0.057784 0.009991 NA 0.029 NA 6.1507494 1045 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 1045 1 230461079 230461079 G A exonic PGBD5 NA synonymous SNV PGBD5:NM_001258311:exon6:c.C1356T:p.C452C exonic ENSG00000177614 NA synonymous SNV ENSG00000177614:ENST00000391860:exon6:c.C1011T:p.C337C,ENSG00000177614:ENST00000525115:exon6:c.C1149T:p.C383C,ENSG00000177614:ENST00000321327:exon8:c.C1446T:p.C482C Score=525;Name=lod=182 NA 1q42.13 NA NA NA NA rs2306813 0.25 0.25 0.253 0.235423 0.1551 0.4901 0.255 0.1536 0.1524 0.15 0.48 0.18 0.19 0.188 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.426136 1.426136 NA 0.173488 0.160009 NA 0.167 NA 6.1500786 1045 19 55512232 55512232 C A exonic NLRP2 NA nonsynonymous SNV NLRP2:NM_001174082:exon12:c.C3089A:p.A1030E,NLRP2:NM_001174081:exon13:c.C3155A:p.A1052E,NLRP2:NM_017852:exon13:c.C3155A:p.A1052E,NLRP2:NM_001174083:exon14:c.C3086A:p.A1029E exonic ENSG00000022556 NA nonsynonymous SNV ENSG00000022556:ENST00000339757:exon12:c.C3089A:p.A1030E,ENSG00000022556:ENST00000391721:exon12:c.C3083A:p.A1028E,ENSG00000022556:ENST00000537859:exon12:c.C3089A:p.A1030E,ENSG00000022556:ENST00000538819:exon12:c.C3083A:p.A1028E,ENSG00000022556:ENST00000263437:exon13:c.C3146A:p.A1049E,ENSG00000022556:ENST00000448584:exon13:c.C3155A:p.A1052E,ENSG00000022556:ENST00000543010:exon13:c.C3155A:p.A1052E,ENSG00000022556:ENST00000427260:exon14:c.C3086A:p.A1029E NA NA 19q13.42 NA NA NA NA rs1043673 0.36 0.36 0.344 0.329872 0.4155 0.1786 0.438 0.3555 0.2863 0.42 0.18 0.44 0.41 0.3636 0.44 1 T 0.0 B 0.0 B . . 1.000 P 0 N -0.69 T -1.011 T 0.000 T 0.11 -1.979 0.007 -0.369 -0.515 -0.726 0.303 -1.979138 NA 1 0.404651 0.363368 NA 0.384 NA 6.1495824 1045 11 129754668 129754668 T C exonic NFRKB NA synonymous SNV NFRKB:NM_006165:exon5:c.A789G:p.T263T,NFRKB:NM_001143835:exon7:c.A714G:p.T238T exonic ENSG00000170322 NA synonymous SNV ENSG00000170322:ENST00000304521:exon5:c.A714G:p.T238T,ENSG00000170322:ENST00000524794:exon5:c.A789G:p.T263T,ENSG00000170322:ENST00000446488:exon6:c.A714G:p.T238T,ENSG00000170322:ENST00000531755:exon6:c.A750G:p.T250T,ENSG00000170322:ENST00000524746:exon7:c.A714G:p.T238T Score=538;Name=lod=204 NA 11q24.3 NA NA NA NA rs2303662 0.13 0.13 0.128 0.16853 0.1859 0.0565 0.111 0.174 0.2996 0.18 0.05 0.14 0.14 0.1705 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.36967 1.36967 NA 0.160694 0.172876 NA 0.203 NA 6.1495726 1045 19 1360575 1360575 G A exonic MUM1 NA nonsynonymous SNV MUM1:NM_032853:exon5:c.G658A:p.G220R exonic ENSG00000160953 NA nonsynonymous SNV ENSG00000160953:ENST00000415183:exon4:c.G658A:p.G220R,ENSG00000160953:ENST00000591806:exon4:c.G658A:p.G220R,ENSG00000160953:ENST00000311401:exon5:c.G451A:p.G151R,ENSG00000160953:ENST00000344663:exon5:c.G658A:p.G220R,ENSG00000160953:ENST00000591337:exon5:c.G658A:p.G220R NA NA 19p13.3 NA NA Name=10 NA rs3826942 0.66 0.66 0.664 0.672923 0.7187 0.5149 0.7349 0.6831 0.7311 0.72 0.52 0.75 0.65 0.7086 0.76 0.82 T 0.0 B 0.0 B 0.253 N 1.000 P -1.1 N 1.78 T -1.004 T 0.000 T 0.041 -1.444 0.02 -0.31 -0.289 0.389 0.816 -1.444469 NA 0.79 0.756977 0.685202 NA 0.659 NA 6.1490564 1045 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$NKX25_01 NA NA NA rs10932806 0.47 0.47 0.437 0.432308 0.5119 0.6716 0.4914 0.1392 0.4581 0.5 0.66 0.49 0.17 0.4904 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.026229 NA NA 0.515501 0.19227 NA 0.319 NA 6.1488656 1045 11 63885305 63885305 C T exonic FLRT1 NA synonymous SNV FLRT1:NM_013280:exon2:c.C1566T:p.P522P exonic ENSG00000126500 NA synonymous SNV ENSG00000126500:ENST00000246841:exon2:c.C1566T:p.P522P NA NA 11q13.1 Score=840;Name=V$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 1045 17 4446457 4446457 G A exonic MYBBP1A NA synonymous SNV MYBBP1A:NM_001105538:exon20:c.C2643T:p.H881H,MYBBP1A:NM_014520:exon20:c.C2643T:p.H881H exonic ENSG00000132382 NA synonymous SNV ENSG00000132382:ENST00000254718:exon20:c.C2643T:p.H881H,ENSG00000132382:ENST00000381556:exon20:c.C2643T:p.H881H Score=414;Name=lod=64 NA 17p13.2 NA NA NA NA rs751670 0.23 0.23 0.199 0.232628 0.1571 0.5496 0.2061 0.0234 0.2853 0.16 0.55 0.18 0.03 0.206 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.588421 1.588421 NA 0.155797 0.047088 NA 0.145 NA 6.1477696 1045 11 62984868 62984868 T C exonic SLC22A25 NA nonsynonymous SNV SLC22A25:NM_199352:exon4:c.A748G:p.S250G exonic ENSG00000196600 NA nonsynonymous SNV ENSG00000196600:ENST00000306494:exon4:c.A748G:p.S250G,ENSG00000196600:ENST00000403374:exon5:c.A250G:p.S84G NA NA 11q12.3 NA NA NA NA rs11231409 0.41 0.41 0.414 0.428315 0.3966 0.5288 0.451 0.2859 0.5337 0.38 0.58 0.38 0.27 0.4099 0.58 1 T 0.001 B 0.002 B 0.662 N 1.000 P -2.785 N 0.44 T -0.927 T 0.000 T 0.308 -1.547 0.015 0.346 -0.224 0.206 6.921 -1.546617 NA 1 0.37913 0.31781 NA 0.413 NA 6.1477034 1045 19 899444 899444 C T exonic R3HDM4 NA synonymous SNV R3HDM4:NM_138774:exon7:c.G699A:p.S233S exonic ENSG00000198858 NA synonymous SNV ENSG00000198858:ENST00000361574:exon7:c.G699A:p.S233S,ENSG00000198858:ENST00000587975:exon7:c.G636A:p.S212S Score=524;Name=lod=180 NA 19p13.3 NA NA NA NA rs2965284 0.09 0.09 0.093 0.0814696 0.1809 0.0109 0.1081 0.0159 0.1217 0.17 0.01 0.14 0.02 0.1457 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 1.050861 NA NA 0.192558 0.040172 ID=COSM440709;OCCURENCE=1(breast) 0.232 NA 6.1475086 1045 19 53209554 53209554 G T exonic ZNF611 NA nonsynonymous SNV ZNF611:NM_001161500:exon5:c.C754A:p.P252T,ZNF611:NM_001161501:exon5:c.C547A:p.P183T,ZNF611:NM_001161499:exon6:c.C754A:p.P252T,ZNF611:NM_030972:exon7:c.C754A:p.P252T exonic ENSG00000213020 NA nonsynonymous SNV ENSG00000213020:ENST00000602162:exon2:c.C547A:p.P183T,ENSG00000213020:ENST00000595798:exon4:c.C547A:p.P183T,ENSG00000213020:ENST00000453741:exon5:c.C547A:p.P183T,ENSG00000213020:ENST00000540744:exon5:c.C754A:p.P252T,ENSG00000213020:ENST00000543227:exon6:c.C754A:p.P252T,ENSG00000213020:ENST00000319783:exon7:c.C754A:p.P252T NA NA 19q13.41 NA NA NA NA rs4085565 0.43 0.43 0.37 0.438698 0.4105 0.3681 0.3285 0.7012 0.2638 0.36 0.37 0.35 0.64 0.4038 0.65 0.17 T 0.0 B 0.002 B . . 1.000 P -1.35 N 2.64 T -1.034 T 0.000 T 0.059 -0.501 1.705 1.2 -0.306 0.006 6.354 -0.500665 NA 0.17 0.372004 0.649569 NA NA NA 6.1470294 1045 2 234601669 234601669 T G exonic UGT1A6 NA nonsynonymous SNV UGT1A6:NM_001072:exon1:c.T19G:p.S7A exonic ENSG00000167165 NA nonsynonymous SNV ENSG00000167165:ENST00000305139:exon1:c.T19G:p.S7A,ENSG00000167165:ENST00000441351:exon2:c.T19G:p.S7A NA NA 2q37.1 NA NA NA NA rs6759892 0.34 0.34 0.346 0.36222 0.3827 0.2242 0.3444 0.3767 0.4765 0.38 0.24 0.37 0.38 0.3901 0.41 1 T 0.0 B 0.0 B . . 1.000 P -0.845 N 1.61 T -0.989 T 0.000 T 0.007 -1.395 0.023 -0.718 -0.187 -0.178 0.768 -1.39515 NA 1 0.413605 0.385837 NA 0.493 NA 6.1469284 1045 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 1046 3 133362154 133362154 A G exonic TOPBP1 NA synonymous SNV TOPBP1:NM_007027:exon12:c.T1911C:p.V637V exonic ENSG00000163781 NA synonymous SNV ENSG00000163781:ENST00000260810:exon12:c.T1911C:p.V637V Score=529;Name=lod=189 NA 3q22.1 NA NA NA NA rs17301889 0.1 0.1 0.087 0.0810703 0.1829 0.001 0.121 0.0681 0.0481 0.18 0.0017 0.14 0.07 0.1418 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.001019 NA NA 0.197147 0.077068 NA 0.08 NA 6.1448196 1046 3 56763619 56763619 A G exonic ARHGEF3 NA synonymous SNV ARHGEF3:NM_001128616:exon10:c.T1278C:p.N426N,ARHGEF3:NM_019555:exon10:c.T1260C:p.N420N,ARHGEF3:NM_001128615:exon13:c.T1356C:p.N452N exonic ENSG00000163947 NA synonymous SNV ENSG00000163947:ENST00000296315:exon10:c.T1260C:p.N420N,ENSG00000163947:ENST00000413728:exon10:c.T1278C:p.N426N,ENSG00000163947:ENST00000497267:exon10:c.T1173C:p.N391N,ENSG00000163947:ENST00000496106:exon11:c.T1278C:p.N426N,ENSG00000163947:ENST00000338458:exon13:c.T1356C:p.N452N NA NA 3p14.3 Score=850;Name=V$CDPCR1_01 NA NA NA rs6765444 0.23 0.23 0.209 0.266973 0.165 0.3442 0.1124 0.2458 0.4305 0.16 0.34 0.13 0.28 0.2043 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.265286 NA NA 0.153837 0.24512 NA 0.159 NA 6.1435296 1046 19 39416887 39416887 C T exonic SARS2 NA synonymous SNV SARS2:NM_001145901:exon2:c.G321A:p.E107E,SARS2:NM_017827:exon2:c.G321A:p.E107E exonic ENSG00000104835,ENSG00000269547 NA synonymous SNV ENSG00000104835:ENST00000221431:exon2:c.G321A:p.E107E,ENSG00000104835:ENST00000430193:exon2:c.G321A:p.E107E,ENSG00000104835:ENST00000455102:exon2:c.G321A:p.E107E,ENSG00000104835:ENST00000598343:exon2:c.G321A:p.E107E,ENSG00000104835:ENST00000600042:exon2:c.G321A:p.E107E,ENSG00000104835:ENST00000448145:exon6:c.G321A:p.E107E Score=496;Name=lod=138 NA 19q13.2 NA NA NA NA rs11544093 0.2 0.2 0.164 0.189896 0.1879 0.3313 0.1556 0.087 0.2096 0.19 0.33 0.15 0.08 0.1773 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636752 NA NA 0.15907 0.095098 NA 0.116 NA 6.1423966 1046 18 50936994 50936994 T C exonic DCC NA synonymous SNV DCC:NM_005215:exon20:c.T3108C:p.P1036P exonic ENSG00000187323 NA synonymous SNV ENSG00000187323:ENST00000581580:exon17:c.T2013C:p.P671P,ENSG00000187323:ENST00000412726:exon20:c.T2592C:p.P864P,ENSG00000187323:ENST00000442544:exon20:c.T3108C:p.P1036P Score=527;Name=lod=184 NA 18q21.2 Score=773;Name=V$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 1046 2 105924510 105924510 A G exonic TGFBRAP1 NA synonymous SNV TGFBRAP1:NM_001142621:exon2:c.T249C:p.R83R,TGFBRAP1:NM_004257:exon2:c.T249C:p.R83R exonic ENSG00000135966 NA synonymous SNV ENSG00000135966:ENST00000258449:exon1:c.T249C:p.R83R,ENSG00000135966:ENST00000393359:exon2:c.T249C:p.R83R NA NA 2q12.1 Score=825;Name=V$AP4_01 NA Name=5 NA rs2241801 0.59 0.59 0.603 0.635783 0.4871 0.7431 0.5793 0.6815 0.6564 0.47 0.73 0.55 0.64 0.5428 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.903096 NA NA 0.494535 0.672719 NA 0.246 NA 6.1422316 1046 12 3387697 3387697 T C exonic TSPAN9 NA synonymous SNV TSPAN9:NM_001168320:exon3:c.T174C:p.I58I,TSPAN9:NM_006675:exon4:c.T174C:p.I58I exonic ENSG00000011105 NA synonymous SNV ENSG00000011105:ENST00000407263:exon2:c.T174C:p.I58I,ENSG00000011105:ENST00000537971:exon3:c.T174C:p.I58I,ENSG00000011105:ENST00000011898:exon4:c.T174C:p.I58I Score=378;Name=lod=46 NA 12p13.32 NA NA NA NA rs16930370 0.18 0.18 0.193 0.172724 0.1839 0.1022 0.1571 0.2761 0.1053 0.18 0.11 0.18 0.27 0.164 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376779 NA NA 0.176977 0.283931 NA 0.355 NA 6.1417896 1046 6 158507981 158507981 G A exonic SYNJ2 NA synonymous SNV SYNJ2:NM_001178088:exon22:c.G2592A:p.R864R,SYNJ2:NM_003898:exon23:c.G3303A:p.R1101R exonic ENSG00000078269 NA synonymous SNV ENSG00000078269:ENST00000367112:exon6:c.G558A:p.R186R,ENSG00000078269:ENST00000355585:exon23:c.G3303A:p.R1101R,ENSG00000078269:ENST00000367121:exon23:c.G3303A:p.R1101R Score=540;Name=lod=208 NA 6q25.3 Score=798;Name=V$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 1046 6 117130704 117130704 G A exonic GPRC6A NA nonsynonymous SNV GPRC6A:NM_148963:exon2:c.C271T:p.P91S exonic ENSG00000173612 NA nonsynonymous SNV ENSG00000173612:ENST00000310357:exon2:c.C271T:p.P91S,ENSG00000173612:ENST00000368549:exon2:c.C271T:p.P91S,ENSG00000173612:ENST00000530250:exon2:c.C271T:p.P91S NA NA 6q22.1 NA NA NA NA rs2274911 0.68 0.68 0.662 0.686302 0.7296 0.5536 0.7723 0.7663 0.6094 0.72 0.54 0.77 0.74 0.7156 0.77 0.16 T 0.002 B 0.015 B 0.002 N 1.000 P 1.11 L -2.44 D -0.903 T 0.285 T 0.041 -0.158 3.228 -0.33 -0.205 0.089 6.114 -0.158037 NA 0.95 0.74814 0.764639 ID=COSM150167;OCCURENCE=1(stomach) 0.696 NA 6.1399934 1046 9 34397545 34397545 A G exonic C9orf24 NA synonymous SNV C9orf24:NM_032596:exon1:c.T87C:p.Y29Y exonic ENSG00000164972 NA synonymous SNV ENSG00000164972:ENST00000297623:exon1:c.T87C:p.Y29Y Score=536;Name=lod=202 NA 9p13.3 Score=870;Name=V$TATA_01 NA NA NA rs11790577 0.43 0.43 0.406 0.404353 0.5239 0.3968 0.3934 0.2844 0.4591 0.51 0.44 0.41 0.28 0.4827 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.949512 NA NA 0.520116 0.316841 NA 0.37 NA 6.1399506 1046 13 26788114 26788114 A G exonic RNF6 NA synonymous SNV RNF6:NM_005977:exon5:c.T1905C:p.C635C,RNF6:NM_183043:exon5:c.T1905C:p.C635C,RNF6:NM_183044:exon5:c.T1905C:p.C635C exonic ENSG00000127870 NA synonymous SNV ENSG00000127870:ENST00000346166:exon5:c.T1905C:p.C635C,ENSG00000127870:ENST00000381570:exon5:c.T1905C:p.C635C,ENSG00000127870:ENST00000381588:exon5:c.T1905C:p.C635C,ENSG00000127870:ENST00000399762:exon6:c.T837C:p.C279C Score=480;Name=lod=119 NA 13q12.13 NA NA NA NA rs301047 0.17 0.17 0.18 0.189696 0.164 0.1141 0.0951 0.3003 0.2117 0.16 0.13 0.11 0.29 0.1831 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484098 NA NA 0.179651 0.2803 NA 0.217 NA 6.1399156 1046 12 7585971 7585971 A G exonic CD163L1 NA synonymous SNV CD163L1:NM_174941:exon3:c.T444C:p.Y148Y exonic ENSG00000177675 NA synonymous SNV ENSG00000177675:ENST00000313599:exon3:c.T444C:p.Y148Y,ENSG00000177675:ENST00000396630:exon3:c.T444C:p.Y148Y,ENSG00000177675:ENST00000416109:exon3:c.T444C:p.Y148Y,ENSG00000177675:ENST00000543276:exon4:c.T156C:p.Y52Y NA NA 12p13.31 NA Name=STAT3,JunD,c-Fos,FOSL2,c-Jun Name=100 NA rs10845159 0.36 0.36 0.335 0.286941 0.5457 0.3413 0.3458 0.0242 0.2781 0.55 0.37 0.39 0.03 0.4321 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.116957 NA NA 0.549419 0.113936 NA 0.341 NA 6.1394476 1046 5 150901261 150901261 C T exonic FAT2 NA nonsynonymous SNV FAT2:NM_001447:exon18:c.G10893A:p.M3631I exonic ENSG00000086570 NA nonsynonymous SNV ENSG00000086570:ENST00000261800:exon18:c.G10893A:p.M3631I NA NA 5q33.1 Score=791;Name=V$CDPCR3_01 NA NA NA rs6650971 0.76 0.76 0.762 0.76897 0.7157 0.9494 0.7939 0.5968 0.8528 0.72 0.95 0.78 0.6 0.7625 0.95 0.55 T 0.002 B 0.002 B 0.411 N 1.000 P -0.55 N -0.33 T -1.012 T 0.000 T 0.194 -0.084 3.591 1.83 0.346 0.360 7.846 -0.083506 NA 0.44 0.71593 0.620744 NA 0.703 NA 6.1392034 1046 22 29446611 29446611 A C exonic ZNRF3 NA synonymous SNV ZNRF3:NM_001206998:exon8:c.A2442C:p.P814P,ZNRF3:NM_032173:exon8:c.A2142C:p.P714P exonic ENSG00000183579 NA synonymous SNV ENSG00000183579:ENST00000406323:exon7:c.A2142C:p.P714P,ENSG00000183579:ENST00000332811:exon8:c.A2142C:p.P714P,ENSG00000183579:ENST00000402174:exon8:c.A2142C:p.P714P,ENSG00000183579:ENST00000544604:exon8:c.A2442C:p.P814P Score=422;Name=lod=69 NA 22q12.1 Score=815;Name=V$RFX1_01 NA NA NA rs5997435 0.54 0.54 0.511 0.516374 0.498 0.5198 0.5461 0.5401 0.4785 0.5 0.54 0.55 0.58 0.517 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399533 NA NA 0.512469 0.555203 NA 0.659 NA 6.1391976 1046 17 44950122 44950122 T C exonic WNT9B NA nonsynonymous SNV WNT9B:NM_003396:exon2:c.T317C:p.M106T exonic ENSG00000158955 NA nonsynonymous SNV ENSG00000158955:ENST00000290015:exon2:c.T317C:p.M106T,ENSG00000158955:ENST00000393461:exon2:c.T317C:p.M106T,ENSG00000158955:ENST00000575372:exon2:c.T335C:p.M112T NA NA 17q21.32 NA NA NA NA rs4968281 0.69 0.69 0.681 0.707069 0.7465 0.4643 0.6354 0.9387 0.6544 0.72 0.48 0.65 0.91 0.7147 0.91 . . 0.0 B 0.0 B 0.941 N 1.000 P -0.57 N -0.87 T -0.995 T 0.000 T 0.343 -1.754 0.01 -0.034 -0.234 0.967 2.219 -1.754299 NA 0.41 0.733232 0.905109 NA 0.609 NA 6.1389014 1046 20 56227514 56227514 T C exonic PMEPA1 NA synonymous SNV PMEPA1:NM_001255976:exon4:c.A375G:p.S125S,PMEPA1:NM_020182:exon4:c.A459G:p.S153S,PMEPA1:NM_199169:exon4:c.A354G:p.S118S,PMEPA1:NM_199170:exon4:c.A309G:p.S103S,PMEPA1:NM_199171:exon4:c.A309G:p.S103S exonic ENSG00000124225 NA synonymous SNV ENSG00000124225:ENST00000265626:exon4:c.A309G:p.S103S,ENSG00000124225:ENST00000341744:exon4:c.A459G:p.S153S,ENSG00000124225:ENST00000347215:exon4:c.A354G:p.S118S,ENSG00000124225:ENST00000395814:exon4:c.A309G:p.S103S,ENSG00000124225:ENST00000395816:exon4:c.A309G:p.S103S,ENSG00000124225:ENST00000414037:exon4:c.A375G:p.S125S,ENSG00000124225:ENST00000395819:exon5:c.A630G:p.S210S Score=658;Name=lod=632 NA 20q13.31 NA NA NA NA rs6025698 0.29 0.29 0.258 0.311102 0.1451 0.3661 0.1801 0.5484 0.1973 0.14 0.33 0.2 0.53 0.2122 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.461762 NA NA 0.171047 0.46709 ID=COSM329547;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.348 NA 6.1383196 1046 16 630902 630902 C G exonic PIGQ NA synonymous SNV PIGQ:NM_004204:exon9:c.C1461G:p.L487L,PIGQ:NM_148920:exon9:c.C1461G:p.L487L exonic ENSG00000007541 NA synonymous SNV ENSG00000007541:ENST00000540241:exon2:c.C135G:p.L45L,ENSG00000007541:ENST00000026218:exon9:c.C1461G:p.L487L,ENSG00000007541:ENST00000321878:exon9:c.C1461G:p.L487L,ENSG00000007541:ENST00000443147:exon9:c.C1503G:p.L501L,ENSG00000007541:ENST00000409527:exon10:c.C1461G:p.L487L Score=543;Name=lod=214 NA 16p13.3 NA NA NA NA rs1045274 0.12 0.12 0.126 0.137979 0.1759 0.0248 0.0807 0.1369 0.2577 0.19 0.03 0.09 0.15 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 0.051602 NA NA 0.184651 0.156747 ID=COSM435482;OCCURENCE=1(breast) 0.203 NA 6.1383156 1046 7 149516486 149516486 A G exonic SSPO NA synonymous SNV SSPO:NM_198455:exon84:c.A11889G:p.G3963G ncRNA_exonic ENSG00000197558 NA NA NA Score=536;Name=lod=202 NA 7q36.1 Score=775;Name=V$HEN1_02 NA NA NA rs6464034 0.47 0.47 0.471 0.491414 0.3082 0.4157 0.3934 0.8585 0.3313 0.29 0.42 0.4 0.84 0.3917 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 0.462801 NA NA 0.32862 0.741564 NA 0.362 NA 6.1381466 1046 11 118828942 118828942 A G exonic UPK2 NA synonymous SNV UPK2:NM_006760:exon5:c.A554G:p.X185X exonic ENSG00000110375 NA synonymous SNV ENSG00000110375:ENST00000264031:exon5:c.A554G:p.X185X Score=295;Name=lod=21 NA 11q23.3 NA NA NA NA rs623500 0.2 0.2 0.201 0.240815 0.172 0.0952 0.1383 0.3782 0.3487 0.18 0.08 0.15 0.4 0.1946 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.237949 NA NA 0.162747 0.375 NA 0.246 NA 6.1373196 1046 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 1046 4 120241902 120241902 T C exonic FABP2 NA nonsynonymous SNV FABP2:NM_000134:exon2:c.A163G:p.T55A exonic ENSG00000145384 NA nonsynonymous SNV ENSG00000145384:ENST00000274024:exon2:c.A163G:p.T55A NA NA 4q26 NA NA NA NA rs1799883 0.75 0.75 0.722 0.746605 0.7316 0.754 0.7695 0.7829 0.6892 0.73 0.73 0.75 0.79 0.7261 0.79 0.06 T . . . . 0.185 N 1.000 P . . 2.94 T -1.094 T 0.000 T 0.008 0.729 7.874 0.048 0.049 0.420 9.506 0.728698 NA 0.16 0.739535 0.766697 NA 0.594 CLINSIG=non-pathogenic;CLNDBN=FATTY_ACID-BINDING_PROTEIN\x2c_INTESTINAL\x2c_POLYMORPHISM_OF;CLNREVSTAT=single;CLNACC=RCV000017958.1;CLNDSDB=.;CLNDSDBID=. 6.1360984 1046 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 1046 3 45153708 45153708 G A exonic CDCP1 NA synonymous SNV CDCP1:NM_022842:exon3:c.C522T:p.I174I,CDCP1:NM_178181:exon3:c.C522T:p.I174I exonic ENSG00000163814 NA synonymous SNV ENSG00000163814:ENST00000296129:exon3:c.C522T:p.I174I,ENSG00000163814:ENST00000425231:exon3:c.C522T:p.I174I Score=464;Name=lod=103 NA 3p21.31 NA NA NA NA rs35501071 0.14 0.14 0.133 0.13758 0.1928 0.0456 0.1614 0.1301 0.1687 0.2 0.04 0.19 0.15 0.1616 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.783406 NA NA 0.176744 0.107808 ID=COSM1423304;OCCURENCE=1(large_intestine) 0.159 NA 6.1355226 1046 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 1046 5 176867943 176867943 A G exonic GRK6 NA synonymous SNV GRK6:NM_001004105:exon15:c.A1566G:p.Q522Q,GRK6:NM_001004106:exon15:c.A1566G:p.Q522Q,GRK6:NM_002082:exon15:c.A1566G:p.Q522Q exonic ENSG00000198055 NA synonymous SNV ENSG00000198055:ENST00000355472:exon15:c.A1566G:p.Q522Q,ENSG00000198055:ENST00000355958:exon15:c.A1566G:p.Q522Q,ENSG00000198055:ENST00000393576:exon15:c.A1464G:p.Q488Q,ENSG00000198055:ENST00000528793:exon15:c.A1566G:p.Q522Q Score=522;Name=lod=176 NA 5q35.3 Score=896;Name=V$STAT5A_01 NA NA NA rs335435 0.39 0.39 0.379 0.351038 0.5249 0.2619 0.3617 0.3215 0.2965 0.53 0.24 0.41 0.33 0.4506 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.651576 NA NA 0.556047 0.341353 NA 0.377 NA 6.1351196 1046 1 19611227 19611227 G A exonic AKR7A3 NA synonymous SNV AKR7A3:NM_012067:exon5:c.C657T:p.P219P exonic ENSG00000162482 NA synonymous SNV ENSG00000162482:ENST00000361640:exon5:c.C657T:p.P219P NA NA 1p36.13 Score=820;Name=V$FREAC2_01 NA NA NA rs1065658 0.12 0.12 0.114 0.146765 0.1789 0.0258 0.1383 0.1293 0.2679 0.17 0.02 0.16 0.14 0.1678 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.528997 NA NA 0.184884 0.128695 NA 0.109 NA 6.1350826 1047 22 19119545 19119545 C T exonic TSSK2 NA synonymous SNV TSSK2:NM_053006:exon1:c.C633T:p.C211C exonic ENSG00000206203 NA synonymous SNV ENSG00000206203:ENST00000399635:exon1:c.C633T:p.C211C Score=605;Name=lod=384 NA 22q11.21 NA NA NA NA rs45604134 0.14 0.14 0.135 0.16274 0.173 0.125 0.134 0.1195 0.2699 0.18 0.12 0.15 0.11 0.1742 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694835 NA 0.32 0.184767 0.110985 NA 0.174 NA 6.1346996 1047 12 21036411 21036411 A G exonic SLCO1B3 NA synonymous SNV SLCO1B3:NM_019844:exon13:c.A1557G:p.A519A exonic ENSG00000111700,ENSG00000257046 NA synonymous SNV ENSG00000111700:ENST00000544370:exon7:c.A1029G:p.A343A,ENSG00000257046:ENST00000540229:exon11:c.A1557G:p.A519A,ENSG00000111700:ENST00000553473:exon11:c.A1557G:p.A519A,ENSG00000111700:ENST00000261196:exon12:c.A1557G:p.A519A,ENSG00000111700:ENST00000381545:exon13:c.A1557G:p.A519A NA NA 12p12.2 Score=826;Name=V$ROAZ_01 Name=CEBPB,GR Name=33 NA rs2053098 0.71 0.71 0.686 0.702875 0.8648 0.6974 0.8357 0.3578 0.9141 0.85 0.72 0.85 0.38 0.8047 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 -0.35957 NA NA 0.863605 0.448706 NA 0.674 NA 6.1335616 1047 19 38997609 38997609 T A intronic RYR1 NA NA NA intronic ENSG00000196218 NA NA NA NA NA 19q13.2 NA Name=TBP,YY1,Max,c-Myc,HEY1,ELF1_(SC-631),TAF1,Pol2-4H8,E2F6,E2F6_(H-50),Pol2,HA-E2F1 Name=102 NA rs2915959 0.35 0.35 0.324 0.404952 0.2982 0.3532 0.366 0.4841 0.4888 0.31 0.32 0.34 0.46 0.3219 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.284515 NA NA 0.246628 0.425522 NA 0.268 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079181.1|RCV000119760.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.133272 1047 9 123783934 123783934 T C exonic C5 NA synonymous SNV C5:NM_001735:exon11:c.A1155G:p.G385G exonic ENSG00000106804 NA synonymous SNV ENSG00000106804:ENST00000223642:exon11:c.A1155G:p.G385G NA NA 9q33.2 NA NA Name=31 NA rs10985126 0.23 0.23 0.226 0.241214 0.167 0.244 0.1037 0.4418 0.1411 0.16 0.21 0.11 0.42 0.1868 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407894 NA NA 0.18 0.380617 ID=COSM1178522;OCCURENCE=1(prostate) 0.261 NA 6.1328666 1047 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 1047 11 129794950 129794950 T C exonic PRDM10 NA nonsynonymous SNV PRDM10:NM_199439:exon8:c.A1447G:p.T483A,PRDM10:NM_199438:exon9:c.A1459G:p.T487A,PRDM10:NM_199437:exon12:c.A1705G:p.T569A,PRDM10:NM_020228:exon13:c.A1717G:p.T573A exonic ENSG00000170325 NA nonsynonymous SNV ENSG00000170325:ENST00000533431:exon6:c.A856G:p.T286A,ENSG00000170325:ENST00000304538:exon8:c.A1447G:p.T483A,ENSG00000170325:ENST00000423662:exon9:c.A1459G:p.T487A,ENSG00000170325:ENST00000526082:exon9:c.A1459G:p.T487A,ENSG00000170325:ENST00000360871:exon12:c.A1705G:p.T569A,ENSG00000170325:ENST00000528746:exon12:c.A1627G:p.T543A,ENSG00000170325:ENST00000358825:exon13:c.A1717G:p.T573A NA NA 11q24.3 NA NA NA NA rs2241571 0.42 0.42 0.419 0.423522 0.3907 0.3988 0.3977 0.4773 0.4284 0.4 0.42 0.4 0.46 0.4158 0.46 0.41 T 0.002 B 0.007 B 0.029 N 1.000 P 0.19 N 3.22 T -0.930 T 0.000 T 0.03 0.539 6.919 0.816 -0.030 -0.590 6.264 0.539222 NA 0.46 0.394694 0.453203 NA 0.435 NA 6.1321394 1047 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 1047 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 1047 5 156770209 156770209 G A exonic FNDC9 NA synonymous SNV FNDC9:NM_001001343:exon2:c.C336T:p.S112S exonic ENSG00000172568 NA synonymous SNV ENSG00000172568:ENST00000312349:exon2:c.C336T:p.S112S,ENSG00000172568:ENST00000520782:exon2:c.C336T:p.S112S Score=265;Name=lod=16 NA 5q33.3 NA NA NA NA rs10214194 0.24 0.24 0.248 0.272963 0.171 0.2986 0.1556 0.3911 0.2751 0.18 0.28 0.13 0.39 0.2029 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.864958 NA NA 0.161744 0.343849 NA 0.203 NA 6.1310226 1047 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 1047 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 1047 3 42251263 42251263 C T exonic TRAK1 NA synonymous SNV TRAK1:NM_001265609:exon13:c.C1527T:p.S509S,TRAK1:NM_014965:exon13:c.C1575T:p.S525S,TRAK1:NM_001042646:exon14:c.C1749T:p.S583S,TRAK1:NM_001265608:exon14:c.C1749T:p.S583S exonic ENSG00000182606 NA synonymous SNV ENSG00000182606:ENST00000341421:exon13:c.C1575T:p.S525S,ENSG00000182606:ENST00000396175:exon13:c.C1575T:p.S525S,ENSG00000182606:ENST00000327628:exon14:c.C1749T:p.S583S Score=433;Name=lod=77 NA 3p22.1 Score=784;Name=V$HTF_01 NA NA NA rs2290134 0.51 0.51 0.468 0.514976 0.499 0.504 0.6499 0.4342 0.5562 0.5 0.51 0.65 0.41 0.5288 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.101958 NA NA 0.508605 0.449841 NA 0.522 NA 6.1302616 1047 14 20216298 20216298 T C exonic OR4Q3 NA nonsynonymous SNV OR4Q3:NM_172194:exon1:c.T712C:p.F238L exonic ENSG00000182652 NA nonsynonymous SNV ENSG00000182652:ENST00000331723:exon1:c.T712C:p.F238L NA NA 14q11.2 NA NA NA NA rs12896533 0.7 0.7 0.684 0.709864 0.7465 0.7768 0.6744 0.5537 0.8395 0.76 0.77 0.66 0.55 0.7286 0.77 1 T 0.0 B 0.0 B 0.250 N 0.000 P 0.14 N 8.37 T -0.956 T 0.000 T 0.06 -2.091 0.006 2.21 0.389 -0.322 6.617 -2.091199 NA 1 0.728837 0.569224 NA 0.652 NA 6.1293964 1047 22 33253280 33253280 T C exonic TIMP3 NA synonymous SNV TIMP3:NM_000362:exon3:c.T249C:p.H83H exonic ENSG00000100234 NA synonymous SNV ENSG00000100234:ENST00000266085:exon3:c.T249C:p.H83H Score=489;Name=lod=129 NA 22q12.3 NA Name=Pol2 NA NA rs9862 0.64 0.64 0.654 0.650958 0.4821 0.6121 0.696 0.8835 0.5184 0.49 0.62 0.67 0.88 0.5518 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 1.316015 1.316015 NA 0.503721 0.825465 NA 0.739 NA 6.1290456 1047 7 108212353 108212353 G A exonic DNAJB9 NA synonymous SNV DNAJB9:NM_012328:exon2:c.G183A:p.P61P exonic ENSG00000128590 NA synonymous SNV ENSG00000128590:ENST00000249356:exon2:c.G183A:p.P61P Score=669;Name=lod=699 NA 7q31.1 NA Name=BRF2 NA NA rs1043615 0.49 0.49 0.462 0.478435 0.497 0.6369 0.5836 0.2648 0.5102 0.5 0.6 0.58 0.26 0.5149 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.435251 1.435251 NA 0.526279 0.298003 NA 0.493 NA 6.1284876 1047 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 1047 5 126171974 126171974 C T UTR3 LMNB1 NM_005573:c.*18C>T,NM_001198557:c.*18C>T NA NA UTR3 ENSG00000113368 ENST00000261366:c.*18C>T NA NA Score=317;Name=lod=26 NA 5q23.2 NA NA NA NA rs2230151 0.05 0.05 0.045 0.0449281 0.0696 0.0188 0.0519 0.0219 0.0726 0.07 0.02 0.06 0.03 0.0657 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 1.934812 1.934812 NA 0.070349 0.027929 NA 0.08 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000057046.1;CLNDSDB=.;CLNDSDBID=. 6.1276844 1047 5 82834299 82834299 G A exonic VCAN NA nonsynonymous SNV VCAN:NM_001164097:exon7:c.G2516A:p.R839H,VCAN:NM_004385:exon8:c.G5477A:p.R1826H exonic ENSG00000038427 NA nonsynonymous SNV ENSG00000038427:ENST00000343200:exon7:c.G2516A:p.R839H,ENSG00000038427:ENST00000513960:exon7:c.G2516A:p.R839H,ENSG00000038427:ENST00000265077:exon8:c.G5477A:p.R1826H NA NA 5q14.3 NA NA NA NA rs188703 0.38 0.38 0.383 0.358427 0.4254 0.3234 0.4611 0.3449 0.271 0.42 0.35 0.47 0.28 0.3811 0.47 0.09 T 0.347 B 0.077 B 0.964 N 1.000 P 0 N 3.27 T -1.025 T 0.000 T 0.027 1.957 12.5 0.253 0.328 0.786 2.050 1.956712 1.956712 0.01 0.400116 0.351566 NA 0.261 NA 6.1267174 1048 5 14769103 14769103 G A exonic ANKH NA synonymous SNV ANKH:NM_054027:exon2:c.C294T:p.A98A exonic ENSG00000154122 NA synonymous SNV ENSG00000154122:ENST00000284268:exon2:c.C294T:p.A98A Score=403;Name=lod=58 NA 5p15.2 NA NA NA NA rs17251667 0.1 0.1 0.089 0.120607 0.1829 0.0238 0.1225 0.0424 0.2607 0.17 0.03 0.12 0.05 0.1646 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.344725 NA NA 0.194419 0.059918 NA 0.239 NA 6.1247476 1048 6 152420095 152420095 G A exonic ESR1 NA synonymous SNV ESR1:NM_000125:exon8:c.G1782A:p.T594T,ESR1:NM_001122740:exon9:c.G1782A:p.T594T,ESR1:NM_001122741:exon9:c.G1782A:p.T594T,ESR1:NM_001122742:exon10:c.G1782A:p.T594T exonic ENSG00000091831 NA synonymous SNV ENSG00000091831:ENST00000406599:exon4:c.G999A:p.T333T,ENSG00000091831:ENST00000206249:exon8:c.G1782A:p.T594T,ENSG00000091831:ENST00000456483:exon8:c.G1446A:p.T482T,ENSG00000091831:ENST00000338799:exon9:c.G1782A:p.T594T,ENSG00000091831:ENST00000443427:exon9:c.G1782A:p.T594T,ENSG00000091831:ENST00000440973:exon10:c.G1782A:p.T594T NA NA 6q25.1 NA Name=Pol2 NA NA rs2228480 0.18 0.18 0.155 0.188698 0.175 0.2014 0.2378 0.1452 0.2137 0.17 0.2 0.23 0.14 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 -1.152782 NA NA 0.179767 0.156832 NA 0.174 NA 6.1225996 1048 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 1048 1 222833538 222833538 C G exonic MIA3 NA synonymous SNV MIA3:NM_198551:exon24:c.C4995G:p.G1665G exonic ENSG00000154305 NA synonymous SNV ENSG00000154305:ENST00000340535:exon19:c.C1629G:p.G543G,ENSG00000154305:ENST00000344441:exon24:c.C4995G:p.G1665G,ENSG00000154305:ENST00000344922:exon24:c.C4995G:p.G1665G Score=471;Name=lod=109 NA 1q41 NA NA NA NA rs2291835 0.15 0.15 0.149 0.126797 0.1988 0.1607 0.1311 0.087 0.0685 0.19 0.17 0.17 0.07 0.1544 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 0.98811 NA NA 0.191673 0.086751 ID=COSM146783;OCCURENCE=1(stomach) 0.196 NA 6.1217936 1048 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 1048 3 50609624 50609624 T G exonic HEMK1 NA synonymous SNV HEMK1:NM_016173:exon4:c.T399G:p.P133P exonic ENSG00000114735 NA synonymous SNV ENSG00000114735:ENST00000232854:exon4:c.T399G:p.P133P,ENSG00000114735:ENST00000434410:exon4:c.T399G:p.P133P,ENSG00000114735:ENST00000455834:exon4:c.T399G:p.P133P Score=449;Name=lod=89 NA 3p21.2 NA Name=CTCF_(C-20),Znf143_(16618-1-AP),NFKB,CTCF_(SC-5916),STAT1,CTCF,YY1,SMC3_(ab9263),YY1_(C-20),Rad21 Name=141 NA rs2232248 0.73 0.73 0.731 0.75619 0.8777 0.5913 0.6282 0.7579 0.8896 0.87 0.6 0.66 0.7 0.807 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 1.281752 1.281752 NA 0.86093 0.76532 ID=COSM1424199;OCCURENCE=1(large_intestine) 0.71 NA 6.1210366 1048 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 1048 10 50315893 50315893 A G exonic VSTM4 NA nonsynonymous SNV VSTM4:NM_001031746:exon2:c.T203C:p.F68S,VSTM4:NM_144984:exon2:c.T203C:p.F68S exonic ENSG00000165633 NA nonsynonymous SNV ENSG00000165633:ENST00000298454:exon2:c.T203C:p.F68S,ENSG00000165633:ENST00000332853:exon2:c.T203C:p.F68S NA NA 10q11.23 NA NA NA NA rs13088 0.44 0.44 0.46 0.496206 0.3907 0.2401 0.4827 0.7753 0.501 0.38 0.21 0.47 0.76 0.4294 0.76 1 T 0.0 B 0.001 B 0.080 N 1.000 P 0 N -0.01 T -0.919 T 0.000 T 0.021 -2.068 0.006 1.75 -0.651 -0.111 4.404 -2.068113 NA 0.5 0.392558 0.708352 NA 0.486 NA 6.1206754 1048 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 1048 1 248551560 248551560 C T exonic OR2T6 NA synonymous SNV OR2T6:NM_001005471:exon1:c.C651T:p.S217S exonic ENSG00000198104 NA synonymous SNV ENSG00000198104:ENST00000355728:exon1:c.C651T:p.S217S Score=295;Name=lod=21 NA 1q44 NA NA NA NA rs954474 0.27 0.27 0.264 0.29373 0.175 0.4365 0.2867 0.2247 0.3671 0.19 0.42 0.24 0.25 0.2224 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739299 NA NA 0.149535 0.22424 NA 0.167 NA 6.1197316 1048 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 1048 11 57137424 57137424 C T exonic P2RX3 NA nonsynonymous SNV P2RX3:NM_002559:exon12:c.C1148T:p.A383V exonic ENSG00000109991 NA nonsynonymous SNV ENSG00000109991:ENST00000263314:exon12:c.C1148T:p.A383V NA NA 11q12.1 NA NA NA NA rs2276038 0.41 0.41 0.354 0.431909 0.3926 0.7163 0.4914 0.0696 0.6268 0.4 0.69 0.44 0.09 0.4352 0.69 0.3 T 0.0 B 0.0 B 0.411 N 1.000 P -0.345 N 3.66 T -1.084 T 0.000 T 0.022 0.269 5.453 0.075 -0.241 0.300 2.123 0.26863 NA 0.26 0.38629 0.124035 NA 0.333 NA 6.1192434 1048 17 78113832 78113832 G A exonic EIF4A3 NA synonymous SNV EIF4A3:NM_014740:exon5:c.C480T:p.V160V exonic ENSG00000141543 NA synonymous SNV ENSG00000141543:ENST00000269349:exon5:c.C480T:p.V160V NA NA 17q25.3 NA NA Name=3 NA rs2241886 0.12 0.12 0.109 0.129792 0.174 0.1022 0.2262 0.0272 0.183 0.17 0.08 0.22 0.03 0.1729 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.883581 NA NA 0.200814 0.049705 ID=COSM1178449;OCCURENCE=1(prostate) 0.21 NA 6.1189526 1048 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 1048 3 12861586 12861586 T C exonic CAND2 NA synonymous SNV CAND2:NM_012298:exon9:c.T2667C:p.G889G,CAND2:NM_001162499:exon11:c.T2946C:p.G982G exonic ENSG00000144712 NA synonymous SNV ENSG00000144712:ENST00000295989:exon9:c.T2667C:p.G889G,ENSG00000144712:ENST00000456430:exon11:c.T2946C:p.G982G Score=369;Name=lod=42 NA 3p25.2 NA NA NA NA rs4684883 0.15 0.15 0.102 0.148363 0.1799 0.1171 0.304 0.0454 0.1769 0.16 0.12 0.3 0.06 0.1869 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.589587 1.589587 NA 0.181336 0.05821 NA 0.152 NA 6.1185306 1048 12 90028901 90028901 T C exonic ATP2B1 NA synonymous SNV ATP2B1:NM_001001323:exon3:c.A534G:p.E178E,ATP2B1:NM_001682:exon3:c.A534G:p.E178E exonic ENSG00000070961 NA synonymous SNV ENSG00000070961:ENST00000261173:exon3:c.A534G:p.E178E,ENSG00000070961:ENST00000348959:exon3:c.A534G:p.E178E,ENSG00000070961:ENST00000359142:exon3:c.A534G:p.E178E,ENSG00000070961:ENST00000428670:exon4:c.A534G:p.E178E Score=656;Name=lod=616 NA 12q21.33 NA NA NA NA rs1050395 0.13 0.13 0.136 0.120807 0.1928 0.0317 0.1455 0.1505 0.0808 0.19 0.02 0.15 0.17 0.1607 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 1.156494 NA NA 0.194651 0.162279 NA 0.138 NA 6.1185156 1048 1 99418647 99418647 G C exonic LPPR5 NA synonymous SNV LPPR5:NM_001010861:exon3:c.C600G:p.V200V,LPPR5:NM_001037317:exon3:c.C600G:p.V200V exonic ENSG00000117598 NA synonymous SNV ENSG00000117598:ENST00000263177:exon3:c.C600G:p.V200V,ENSG00000117598:ENST00000370188:exon3:c.C600G:p.V200V Score=519;Name=lod=171 NA 1p21.3 NA NA NA NA rs309087 0.21 0.21 0.191 0.223043 0.1789 0.2351 0.1571 0.2738 0.2342 0.17 0.23 0.17 0.26 0.1952 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.987336 NA NA 0.174535 0.268044 NA 0.203 NA 6.1180316 1048 9 131397479 131397479 G A exonic WDR34 NA synonymous SNV WDR34:NM_052844:exon6:c.C873T:p.T291T exonic ENSG00000119333 NA synonymous SNV ENSG00000119333:ENST00000372715:exon6:c.C873T:p.T291T NA NA 9q34.11 Score=809;Name=V$CEBP_C Name=Pol2,CTCF,c-Myc Name=8 NA rs4837291 0.65 0.65 0.644 0.621406 0.8698 0.4921 0.7853 0.3699 0.7229 0.87 0.48 0.81 0.38 0.7883 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 -0.210668 NA NA 0.890581 0.424194 NA 0.594 NA 6.1179856 1048 2 237374309 237374309 C T exonic IQCA1 NA synonymous SNV IQCA1:NM_001270584:exon6:c.G765A:p.Q255Q,IQCA1:NM_001270585:exon6:c.G786A:p.Q262Q,IQCA1:NM_024726:exon6:c.G765A:p.Q255Q exonic ENSG00000132321 NA synonymous SNV ENSG00000132321:ENST00000254653:exon6:c.G765A:p.Q255Q,ENSG00000132321:ENST00000309507:exon6:c.G753A:p.Q251Q,ENSG00000132321:ENST00000409907:exon6:c.G765A:p.Q255Q,ENSG00000132321:ENST00000431676:exon6:c.G765A:p.Q255Q NA NA 2q37.3 NA NA NA NA rs35432941 0.08 0.08 0.055 0.0742812 0.1849 0.001 0.0764 0.0076 0.1247 0.19 NA 0.07 0.01 0.154 0.21 . . . . . . . . 1.000 P . . . . -1.002 T 0.000 T . -0.754 0.806 -0.467 -0.011 0.225 0.112 -0.75365 NA NA 0.210048 0.036745 NA 0.145 NA 6.1177186 1048 10 134884610 134884610 C G intergenic LOC399829,GPR123 dist=94609;dist=16799 NA NA exonic ENSG00000197177 NA nonsynonymous SNV ENSG00000197177:ENST00000607359:exon1:c.C178G:p.R60G NA NA 10q26.3 NA NA NA NA rs4486541 0.61 0.61 0.615 0.622404 0.5716 0.6577 0.5346 0.6596 0.6503 0.58 0.68 0.56 0.61 0.6019 0.68 0 D 0.0 B 0.0 B . . . . . . . . -0.873 T 0.000 T . -0.796 0.686 -0.857 -3.748 -3.968 . -0.796255 NA NA 0.542413 0.651854 NA 0.652 NA 6.1174204 1048 1 248487016 248487016 C T exonic OR2M7 NA synonymous SNV OR2M7:NM_001004691:exon1:c.G855A:p.L285L exonic ENSG00000177186 NA synonymous SNV ENSG00000177186:ENST00000317965:exon1:c.G855A:p.L285L Score=395;Name=lod=54 NA 1q44 NA NA NA NA rs4451579 0.2 0.2 0.169 0.213658 0.172 0.3641 0.245 0.0091 0.3558 0.19 0.35 0.2 0.02 0.2088 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.450773 NA NA 0.168721 0.044031 NA 0.116 NA 6.1171456 1048 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-2gamma,AP-2alpha 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 1048 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 1048 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 1048 6 57393112 57393112 T C exonic PRIM2 NA unknown UNKNOWN exonic ENSG00000146143 NA synonymous SNV ENSG00000146143:ENST00000607273:exon9:c.T762C:p.S254S Score=513;Name=lod=162 NA 6p11.2 NA NA NA NA rs11964288 NA NA 0.096 NA NA NA NA NA NA NA NA NA NA 0.1698 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 1.559649 1.559649 NA 0.048117 0.013099 ID=COSM150111;OCCURENCE=1(stomach),1(prostate) 0.014 NA 6.1154163 1048 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 1049 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 1049 19 6677989 6677989 G A exonic C3 NA synonymous SNV C3:NM_000064:exon41:c.C4896T:p.P1632P exonic ENSG00000125730 NA synonymous SNV ENSG00000125730:ENST00000245907:exon41:c.C4896T:p.P1632P NA NA 19p13.3 NA Name=Pol2,HMGN3,IRF1,SP1,YY1,Egr-1,CCNT2,ZNF263 Name=39 NA rs17030 0.49 0.49 0.466 0.532947 0.5109 0.5476 0.5043 0.497 0.6094 0.52 0.5 0.49 0.44 0.5241 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.986909 NA NA 0.51686 0.49773 NA 0.442 NA 6.1148066 1049 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 1049 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 1049 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 1049 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 1049 9 93606309 93606309 G A exonic SYK NA synonymous SNV SYK:NM_001135052:exon2:c.G129A:p.Q43Q,SYK:NM_001174167:exon2:c.G129A:p.Q43Q,SYK:NM_001174168:exon2:c.G129A:p.Q43Q,SYK:NM_003177:exon2:c.G129A:p.Q43Q exonic ENSG00000165025 NA synonymous SNV ENSG00000165025:ENST00000375746:exon2:c.G129A:p.Q43Q,ENSG00000165025:ENST00000375747:exon2:c.G129A:p.Q43Q,ENSG00000165025:ENST00000375751:exon2:c.G129A:p.Q43Q,ENSG00000165025:ENST00000375754:exon2:c.G129A:p.Q43Q Score=543;Name=lod=215 NA 9q22.2 NA NA NA NA rs35758162 0.11 0.11 0.121 0.111022 0.168 0.0159 0.1138 0.1067 0.1544 0.16 0.01 0.12 0.14 0.1781 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.128933 NA NA 0.208721 0.120064 NA 0.203 NA 6.1118456 1049 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=TAF7_(SQ-8),CTCF,E2F6,POU2F2,Pol2(phosphoS2),Pol2,HA-E2F1,ETS1,HEY1,NFKB,TAF1,Pol2-4H8,EBF1_(C-8),Max,Oct-2,c-Myc,TBP 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 1049 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 1049 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 1049 17 74163821 74163821 G A exonic RNF157 NA synonymous SNV RNF157:NM_052916:exon4:c.C354T:p.Y118Y exonic ENSG00000141576 NA synonymous SNV ENSG00000141576:ENST00000269391:exon4:c.C354T:p.Y118Y,ENSG00000141576:ENST00000319945:exon4:c.C354T:p.Y118Y Score=543;Name=lod=215 NA 17q25.1 NA NA NA NA rs2289603 0.17 0.17 0.164 0.196486 0.1819 0.1399 0.2334 0.1959 0.2444 0.18 0.14 0.22 0.16 0.1884 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.11035 NA NA 0.187093 0.19882 NA 0.268 NA 6.1092736 1049 X 140983127 140983127 G A exonic MAGEC3 NA nonsynonymous SNV MAGEC3:NM_138702:exon5:c.G982A:p.A328T exonic ENSG00000165509 NA nonsynonymous SNV ENSG00000165509:ENST00000448920:exon4:c.G238A:p.A80T,ENSG00000165509:ENST00000298296:exon5:c.G982A:p.A328T NA NA Xq27.2 NA NA NA NA rs176026 0.68 0.68 0.67806 NA NA NA NA NA NA 0.93 0.49 0.75 0.45 0.795 0.93 0.46 T 0.98 D 0.811 P . . 1.000 P 1.24 L 3.78 T -0.972 T 0.000 T 0.099 0.923 8.76 0.684 0.623 0.475 . 0.923358 NA 0.05 0.929102 0.511737 ID=COSM1466088;OCCURENCE=1(large_intestine) 0.428 NA 6.1092314 1049 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=YY1_(C-20),c-Myc,Rad21,RXRA,eGFP-JunD,YY1,SMC3_(ab9263),CTCF,CTCF_(C-20),CTCF_(SC-5916) 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 1049 3 52237970 52237970 C T exonic ALAS1 NA synonymous SNV ALAS1:NM_199166:exon4:c.C519T:p.I173I,ALAS1:NM_000688:exon5:c.C519T:p.I173I exonic ENSG00000023330 NA synonymous SNV ENSG00000023330:ENST00000310271:exon4:c.C519T:p.I173I,ENSG00000023330:ENST00000469224:exon4:c.C519T:p.I173I,ENSG00000023330:ENST00000394965:exon5:c.C519T:p.I173I,ENSG00000023330:ENST00000484952:exon5:c.C519T:p.I173I Score=564;Name=lod=261 NA 3p21.2 NA NA Name=4 NA rs352168 0.45 0.45 0.447 0.398363 0.5298 0.3948 0.487 0.2625 0.3875 0.52 0.44 0.5 0.3 0.4812 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.298447 1.298447 NA 0.547093 0.327281 NA 0.377 NA 6.1085736 1049 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 1049 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 1049 6 36270130 36270130 C A exonic PNPLA1 NA nonsynonymous SNV PNPLA1:NM_001145716:exon6:c.C1010A:p.P337H,PNPLA1:NM_001145717:exon6:c.C1268A:p.P423H,PNPLA1:NM_173676:exon6:c.C983A:p.P328H exonic ENSG00000180316 NA nonsynonymous SNV ENSG00000180316:ENST00000312917:exon6:c.C1010A:p.P337H,ENSG00000180316:ENST00000388715:exon6:c.C983A:p.P328H,ENSG00000180316:ENST00000394571:exon6:c.C1268A:p.P423H,ENSG00000180316:ENST00000457797:exon6:c.C1271A:p.P424H NA NA 6p21.31 NA NA NA NA rs12199580 0.34 0.34 0.296 0.282348 0.4036 0.1756 0.5231 0.1679 0.2515 0.43 0.24 0.53 0.16 0.3893 0.53 0.14 T 0.043 B 0.035 B 0.461 N 1.000 P 0.55 N 1.32 T -1.022 T 0.021 T 0.049 1.363 10.48 1.74 0.112 0.074 5.312 1.363188 1.363188 NA 0.432907 0.207217 NA 0.326 NA 6.1075264 1049 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 1049 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 1049 7 158534381 158534381 G C exonic ESYT2 NA synonymous SNV ESYT2:NM_020728:exon17:c.C2082G:p.P694P exonic ENSG00000117868 NA synonymous SNV ENSG00000117868:ENST00000435514:exon2:c.C387G:p.P129P,ENSG00000117868:ENST00000251527:exon17:c.C2082G:p.P694P,ENSG00000117868:ENST00000275418:exon18:c.C2055G:p.P685P NA NA 7q36.3 Score=882;Name=V$SPZ1_01 NA NA NA rs59980573 0.32 0.32 0.297 0.339657 0.171 0.5813 0.1888 0.4085 0.2781 0.17 0.56 0.19 0.38 0.2269 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.12875 NA NA 0.162209 0.344303 NA 0.217 NA 6.1065576 1049 6 39864730 39864730 C T exonic DAAM2 NA synonymous SNV DAAM2:NM_001201427:exon20:c.C2484T:p.I828I,DAAM2:NM_015345:exon20:c.C2484T:p.I828I exonic ENSG00000146122 NA synonymous SNV ENSG00000146122:ENST00000274867:exon20:c.C2484T:p.I828I,ENSG00000146122:ENST00000398904:exon20:c.C2484T:p.I828I,ENSG00000146122:ENST00000538976:exon20:c.C2484T:p.I828I Score=603;Name=lod=378 NA 6p21.2 Score=875;Name=V$EVI1_06 NA NA NA rs3008815 0.44 0.44 0.419 0.46246 0.5288 0.3244 0.4827 0.4213 0.5777 0.52 0.33 0.47 0.4 0.5142 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.189343 NA NA 0.517917 0.395996 NA 0.551 NA 6.1057496 1049 6 37626142 37626142 C T exonic MDGA1 NA synonymous SNV MDGA1:NM_153487:exon3:c.G261A:p.S87S exonic ENSG00000112139 NA synonymous SNV ENSG00000112139:ENST00000508399:exon2:c.G93A:p.S31S,ENSG00000112139:ENST00000297153:exon3:c.G261A:p.S87S,ENSG00000112139:ENST00000434837:exon3:c.G261A:p.S87S,ENSG00000112139:ENST00000505425:exon3:c.G261A:p.S87S,ENSG00000112139:ENST00000515437:exon3:c.G93A:p.S31S Score=536;Name=lod=201 NA 6p21.2 NA NA NA NA rs2273110 0.15 0.15 0.154 0.135982 0.1988 0.1627 0.1499 0.0454 0.1564 0.19 0.17 0.18 0.04 0.1673 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 1.311274 1.311274 NA 0.194905 0.069111 NA 0.109 NA 6.1056616 1049 2 10091952 10091952 G A UTR5 GRHL1 NM_198182:c.-11G>A NA NA UTR5 ENSG00000134317 ENST00000324883:c.-9435G>A,ENST00000464418:c.-1209G>A,ENST00000439493:c.-11G>A,ENST00000324907:c.-11G>A,ENST00000472167:c.-11G>A NA NA Score=683;Name=lod=799 NA 2p25.1 NA Name=CCNT2,GATA3_(SC-268),ERalpha_a,TAF1,Pol2-4H8,HEY1,Pol2,p300 NA NA rs111645870 0.06 0.06 0.05 0.0511182 0.0815 NA 0.0432 0.0756 0.045 0.08 NA 0.06 0.1 0.0748 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 3.025275 3.025275 NA 0.071373 0.06523 NA NA NA 6.1056604 1049 2 219903258 219903258 T G exonic CCDC108 NA nonsynonymous SNV CCDC108:NM_152389:exon3:c.A1C:p.M1L,CCDC108:NM_194302:exon4:c.A196C:p.M66L exonic ENSG00000181378 NA nonsynonymous SNV ENSG00000181378:ENST00000324264:exon1:c.A1C:p.M1L,ENSG00000181378:ENST00000453220:exon2:c.A196C:p.M66L,ENSG00000181378:ENST00000295729:exon3:c.A1C:p.M1L,ENSG00000181378:ENST00000410037:exon3:c.A1C:p.M1L,ENSG00000181378:ENST00000441968:exon3:c.A196C:p.M66L,ENSG00000181378:ENST00000341552:exon4:c.A196C:p.M66L,ENSG00000181378:ENST00000409865:exon4:c.A163C:p.M55L,ENSG00000181378:ENST00000436631:exon4:c.A1C:p.M1L,ENSG00000181378:ENST00000457968:exon4:c.A163C:p.M55L,ENSG00000181378:ENST00000458526:exon4:c.A1C:p.M1L NA NA 2q35 NA Name=ZNF263 NA NA rs6736922 0.61 0.61 0.604 0.589457 0.7634 0.4256 0.621 0.5454 0.6166 0.78 0.43 0.63 0.53 0.6993 0.78 0.93 T 0.0 B 0.0 B 0.008 N 1.000 P 0 N 3.37 T -0.943 T 0.000 T 0.681 -0.531 1.582 -1.96 -0.795 -0.438 1.063 -0.53147 NA 0.7 0.765116 0.561734 ID=COSM149069,COSM149068;OCCURENCE=1(stomach) 0.659 NA 6.1055174 1049 10 17686334 17686334 C T UTR5 STAM NM_003473:c.-5C>T NA NA UTR5 ENSG00000136738 ENST00000377524:c.-5C>T,ENST00000377500:c.-43728C>T,ENST00000445846:c.-5C>T,ENST00000540523:c.-43728C>T NA NA NA NA 10p12.33 Score=759;Name=V$TAXCREB_02 Name=HEY1,EBF1_(C-8),Pol2-4H8,TAF1,POU2F2,E2F6,Pol2,Pol2(phosphoS2),ZNF263,TBP,EBF,Sin3Ak-20,E2F4,Oct-2,ZBTB33 NA NA rs17141457 0.07 0.07 0.066 0.063099 0.0805 0.0377 0.0879 0.0787 0.0327 0.08 0.03 0.12 0.07 0.0733 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 2.347002 2.347002 NA 0.074302 0.092374 NA 0.036 NA 6.1052314 1050 19 44352665 44352665 T C exonic ZNF283 NA nonsynonymous SNV ZNF283:NM_181845:exon7:c.T1912C:p.C638R exonic ENSG00000167637 NA nonsynonymous SNV ENSG00000167637:ENST00000588797:exon6:c.T1495C:p.C499R,ENSG00000167637:ENST00000324461:exon7:c.T1912C:p.C638R NA NA 19q13.31 NA NA NA NA rs2356437 0.61 0.61 0.658 0.682308 0.7684 0.374 0.536 0.8533 0.7843 0.73 0.33 0.57 0.79 0.7125 0.83 0.78 T 0.0 B 0.0 B . . 1.000 P -0.395 N 3.28 T -1.046 T 0.000 T 0.007 -0.328 2.444 -1.72 -0.926 -4.778 3.364 -0.327973 NA 0.43 0.747793 0.829039 ID=COSM1394329;OCCURENCE=1(large_intestine) 0.326 NA 6.1046404 1050 12 57114100 57114100 A G exonic NACA NA nonsynonymous SNV NACA:NM_001113203:exon3:c.T1214C:p.F405S exonic ENSG00000196531 NA nonsynonymous SNV ENSG00000196531:ENST00000454682:exon3:c.T1214C:p.F405S,ENSG00000196531:ENST00000550952:exon3:c.T1214C:p.F405S NA NA 12q13.3 NA NA NA NA rs2926743 0.78 0.78 0.762 0.808706 0.7316 0.745 0.7594 0.9092 0.8528 0.73 0.75 0.78 0.9 0.7754 0.9 0 D 0.0 B 0.0 B . . 1.000 P 0 N 1.01 T -1.055 T 0.000 T 0.049 0.06 4.329 0.525 -0.202 0.063 4.111 0.06036 NA 0.12 0.721803 0.89764 NA 0.717 NA 6.1045304 1050 14 55818517 55818517 T A exonic FBXO34 NA nonsynonymous SNV FBXO34:NM_017943:exon2:c.T1409A:p.I470N,FBXO34:NM_152231:exon2:c.T1409A:p.I470N exonic ENSG00000178974 NA nonsynonymous SNV ENSG00000178974:ENST00000555280:exon1:c.T1007A:p.I336N,ENSG00000178974:ENST00000313833:exon2:c.T1409A:p.I470N,ENSG00000178974:ENST00000440021:exon2:c.T1409A:p.I470N NA NA 14q22.3 NA NA NA NA rs1045002 0.34 0.34 0.336 0.331669 0.4245 0.3185 0.3098 0.2322 0.3998 0.43 0.33 0.32 0.24 0.3836 0.43 0.54 T 0.001 B 0.008 B 0.413 N 1.000 P 0 N 2.34 T -0.906 T 0.000 T 0.054 -1.643 0.013 -0.84 -0.639 -0.270 4.902 -1.642727 NA 0.34 0.421047 0.260327 ID=COSM147784;OCCURENCE=1(stomach) 0.37 NA 6.1041864 1050 9 85862819 85862819 G A UTR3 FRMD3 NM_174938:c.*14C>T,NM_001244960:c.*14C>T NA NA UTR3 ENSG00000172159 ENST00000304195:c.*14C>T NA NA NA NA 9q21.32 NA Name=BATF Name=3 NA rs78846594 0.07 0.07 0.065 0.0752796 0.0706 0.1825 0.0634 0.0045 0.0736 0.06 0.16 0.05 0.01 0.0787 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.944922 NA NA 0.080044 0.019959 NA 0.065 NA 6.1039894 1050 5 167674370 167674370 C T exonic TENM2 NA synonymous SNV TENM2:NM_001122679:exon27:c.C6399T:p.I2133I exonic ENSG00000145934 NA synonymous SNV ENSG00000145934:ENST00000520394:exon23:c.C5709T:p.I1903I,ENSG00000145934:ENST00000403607:exon25:c.C5898T:p.I1966I,ENSG00000145934:ENST00000519204:exon26:c.C6063T:p.I2021I,ENSG00000145934:ENST00000518659:exon27:c.C6426T:p.I2142I,ENSG00000145934:ENST00000545108:exon30:c.C6423T:p.I2141I Score=544;Name=lod=217 NA 5q34 Score=728;Name=V$PAX4_04 NA NA NA rs3733988 0.39 0.39 0.384 0.435503 0.5408 0.1726 0.4496 0.4418 0.5798 0.53 0.17 0.42 0.43 0.4946 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14215 NA NA 0.527292 0.41601 ID=COSM150011;OCCURENCE=1(stomach) 0.471 NA 6.1039746 1050 3 122345870 122345870 C T exonic PARP15 NA synonymous SNV PARP15:NM_152615:exon5:c.C726T:p.S242S,PARP15:NM_001113523:exon9:c.C1428T:p.S476S exonic ENSG00000173200 NA synonymous SNV ENSG00000173200:ENST00000310366:exon5:c.C726T:p.S242S,ENSG00000173200:ENST00000464300:exon9:c.C1428T:p.S476S NA NA 3q21.1 NA NA Name=5 NA rs17208928 0.1 0.1 0.098 0.0832668 0.2177 0.0089 0.0922 0.0091 0.1155 0.22 0.01 0.1 0.01 0.1494 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550138 NA NA 0.195698 0.037449 NA 0.101 NA 6.1038686 1050 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 1050 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$AP4_01 NA NA NA rs7188880 0.63 0.63 0.634 0.659345 0.493 0.7897 0.4323 0.8116 0.6513 0.47 0.78 0.46 0.83 0.5521 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.447261 1.447261 NA 0.518023 0.755005 NA 0.63 NA 6.1035436 1050 14 62462766 62462766 T C exonic SYT16 NA nonsynonymous SNV SYT16:NM_031914:exon1:c.T29C:p.V10A exonic ENSG00000139973 NA nonsynonymous SNV ENSG00000139973:ENST00000430451:exon1:c.T29C:p.V10A,ENSG00000139973:ENST00000555409:exon1:c.T29C:p.V10A,ENSG00000139973:ENST00000446982:exon2:c.T29C:p.V10A Score=570;Name=lod=276 NA 14q23.2 NA NA NA NA rs8019076 0.82 0.82 0.819 0.792332 0.7386 0.7956 0.7695 0.9546 0.6411 0.73 0.83 0.79 0.95 0.7482 0.95 1 T 0.0 B 0.0 B 0.623 N 1.000 P 0 N 3.68 T -0.973 T 0.000 T 0.029 -1.043 0.202 -0.606 -0.486 -0.583 5.365 -1.043496 NA 0.65 0.743876 0.918249 NA 0.659 NA 6.1026574 1050 12 5021348 5021348 G C exonic KCNA1 NA synonymous SNV KCNA1:NM_000217:exon2:c.G804C:p.T268T exonic ENSG00000111262 NA synonymous SNV ENSG00000111262:ENST00000382545:exon2:c.G804C:p.T268T Score=571;Name=lod=279 NA 12p13.32 NA NA NA NA rs2227910 0.58 0.58 0.553 0.533347 0.5159 0.6627 0.5764 0.4796 0.4601 0.52 0.67 0.59 0.54 0.5256 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.024561 NA NA 0.522791 0.465729 NA 0.609 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Episodic_ataxia_type_1|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000020222.1|RCV000117316.2;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT|.;CLNDSDBID=NBK25442:C1719788:160120:421182009|. 6.1023756 1050 7 77756724 77756724 C T exonic MAGI2 NA synonymous SNV MAGI2:NM_012301:exon19:c.G3213A:p.S1071S exonic ENSG00000187391 NA synonymous SNV ENSG00000187391:ENST00000419488:exon18:c.G3171A:p.S1057S,ENSG00000187391:ENST00000354212:exon19:c.G3213A:p.S1071S,ENSG00000187391:ENST00000522391:exon19:c.G3213A:p.S1071S Score=476;Name=lod=115 NA 7q21.11 Score=810;Name=V$IRF1_01 NA NA NA rs7812015 0.78 0.78 0.801 0.786342 0.8688 0.5714 0.7205 0.9228 0.7853 0.87 0.57 0.76 0.92 0.8244 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 0.722249 NA NA 0.871395 0.908534 NA 0.87 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117572.2;CLNDSDB=.;CLNDSDBID=. 6.1020716 1050 14 77880305 77880305 C T exonic NOXRED1 NA synonymous SNV NOXRED1:NM_001113475:exon2:c.G321A:p.R107R exonic ENSG00000165555 NA synonymous SNV ENSG00000165555:ENST00000298358:exon2:c.G321A:p.R107R,ENSG00000165555:ENST00000380835:exon2:c.G321A:p.R107R,ENSG00000165555:ENST00000555603:exon3:c.G321A:p.R107R Score=472;Name=lod=111 NA 14q24.3 NA NA NA NA rs10130481 0.14 0.14 0.12 0.150759 0.1928 0.0159 0.2651 0.1029 0.2301 0.18 0.01 0.29 0.1 0.1888 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.560183 1.560183 NA 0.183023 0.131185 NA 0.167 NA 6.1020436 1050 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=USF-1,Pol2,ERalpha_a 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 1050 17 4461748 4461748 G A exonic GGT6 NA synonymous SNV GGT6:NM_153338:exon3:c.C948T:p.P316P,GGT6:NM_001122890:exon4:c.C1044T:p.P348P exonic ENSG00000167741 NA stopgain ENSG00000167741:ENST00000574584:exon4:c.C454T:p.R152X NA NA 17p13.2 Score=723;Name=V$SEF1_C NA NA NA rs7215121 0.46 0.46 0.479 0.496805 0.3986 0.7421 0.3718 0.3752 0.5982 0.38 0.73 0.36 0.36 0.4423 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 -0.297009 NA NA 0.390814 0.366485 NA 0.42 NA 6.1016193 1050 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 1050 17 3564084 3564084 T C UTR3 CTNS NM_004937:c.*421T>C,NM_001031681:c.*56T>C NA NA UTR3 ENSG00000040531 ENST00000046640:c.*421T>C,ENST00000381870:c.*56T>C,ENST00000441220:c.*56T>C NA NA Score=333;Name=lod=30 NA 17p13.2 NA Name=Pol2 NA NA rs760274 0.21 0.21 0.143 0.197284 0.2326 0.2391 0.219 0.1127 0.2168 0.22 0.26 0.21 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 0.703889 NA NA NA NA NA 0.13 NA 6.1007334 1050 5 52193287 52193287 C T exonic ITGA1 NA synonymous SNV ITGA1:NM_181501:exon10:c.C1092T:p.A364A exonic ENSG00000213949 NA synonymous SNV ENSG00000213949:ENST00000282588:exon10:c.C1092T:p.A364A Score=451;Name=lod=91 NA 5q11.2 NA NA Name=3 NA rs1531545 0.59 0.59 0.597 0.633786 0.5099 0.624 0.6225 0.73 0.6493 0.51 0.58 0.61 0.69 0.5547 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 1.238107 1.238107 NA 0.501395 0.690195 ID=COSM149830;OCCURENCE=1(stomach) 0.507 NA 6.1006716 1050 19 11943713 11943713 G A exonic ZNF440 NA synonymous SNV ZNF440:NM_152357:exon4:c.G1722A:p.R574R exonic ENSG00000171295 NA synonymous SNV ENSG00000171295:ENST00000304060:exon4:c.G1722A:p.R574R NA NA 19p13.2 NA Name=SETDB1 NA NA rs56167415 0.1 0.1 0.083 0.067492 0.2048 NA 0.1023 0.0083 0.0511 0.22 NA 0.12 0.01 0.1463 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468008 NA NA 0.215035 0.039726 NA 0.051 NA 6.1005316 1050 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 1050 20 3640823 3640823 C T exonic GFRA4 NA synonymous SNV GFRA4:NM_145762:exon4:c.G801A:p.P267P,GFRA4:NM_022139:exon5:c.G711A:p.P237P exonic ENSG00000125861 NA synonymous SNV ENSG00000125861:ENST00000319242:exon4:c.G801A:p.P267P,ENSG00000125861:ENST00000290417:exon5:c.G711A:p.P237P NA NA 20p13 NA Name=CTCF Name=11 NA rs2853208 0.4 0.4 0.37 0.379393 0.5258 0.4117 0.5303 0.0499 0.5337 0.52 0.48 0.49 0.05 0.5301 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159649 NA NA 0.511693 0.13937 ID=COSM443772;OCCURENCE=1(breast) 0.435 NA 6.0990736 1050 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 1050 11 562437 562437 G A exonic RASSF7 NA synonymous SNV RASSF7:NM_001143993:exon3:c.G483A:p.R161R,RASSF7:NM_001143994:exon3:c.G483A:p.R161R,RASSF7:NM_003475:exon3:c.G483A:p.R161R exonic ENSG00000099849 NA synonymous SNV ENSG00000099849:ENST00000344375:exon3:c.G483A:p.R161R,ENSG00000099849:ENST00000397582:exon3:c.G483A:p.R161R,ENSG00000099849:ENST00000397583:exon3:c.G483A:p.R161R,ENSG00000099849:ENST00000431809:exon3:c.G483A:p.R161R,ENSG00000099849:ENST00000454668:exon3:c.G483A:p.R161R NA NA 11p15.5 Score=750;Name=V$HOX13_01 NA NA NA rs11246189 0.17 0.17 0.151 0.15655 0.1948 0.0188 0.2478 0.239 0.0828 0.19 0.01 0.26 0.25 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 0.460559 NA NA 0.200122 0.225915 NA 0.174 NA 6.0979446 1050 6 30166266 30166266 C T exonic TRIM26 NA synonymous SNV TRIM26:NM_001242783:exon4:c.G474A:p.R158R,TRIM26:NM_003449:exon5:c.G474A:p.R158R exonic ENSG00000234127 NA synonymous SNV ENSG00000234127:ENST00000437089:exon4:c.G474A:p.R158R,ENSG00000234127:ENST00000453195:exon4:c.G474A:p.R158R,ENSG00000234127:ENST00000416596:exon5:c.G474A:p.R158R,ENSG00000234127:ENST00000454678:exon5:c.G474A:p.R158R Score=415;Name=lod=65 NA 6p22.1 NA NA NA NA rs2523721 0.21 0.21 0.224 0.230232 0.1829 0.1081 0.1585 0.4017 0.2239 0.17 0.08 0.18 0.45 0.1861 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.324299 1.324299 NA 0.199889 0.334547 NA 0.246 NA 6.0977776 1050 8 27737198 27737198 A G exonic SCARA5 NA synonymous SNV SCARA5:NM_173833:exon8:c.T1239C:p.R413R exonic ENSG00000168079 NA synonymous SNV ENSG00000168079:ENST00000380385:exon7:c.T564C:p.R188R,ENSG00000168079:ENST00000354914:exon8:c.T1239C:p.R413R Score=643;Name=lod=547 NA 8p21.1 NA Name=E2F6,CTCF,E2F6_(H-50) Name=5 NA rs4732610 0.85 0.85 0.846 0.839257 0.8429 0.7887 0.8963 0.8828 0.7883 0.84 0.83 0.89 0.88 0.863 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 1.900756 1.900756 NA 0.863023 0.877667 NA 0.848 NA 6.0977436 1050 7 88956699 88956699 A G exonic ZNF804B NA synonymous SNV ZNF804B:NM_181646:exon3:c.A291G:p.V97V exonic ENSG00000182348 NA synonymous SNV ENSG00000182348:ENST00000333190:exon3:c.A291G:p.V97V Score=676;Name=lod=748 NA 7q21.13 NA NA NA NA rs38971 0.32 0.32 0.298 0.30631 0.169 0.6716 0.2738 0.1944 0.2454 0.17 0.66 0.26 0.18 0.2311 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 1.38231 1.38231 NA 0.169342 0.198229 NA 0.196 NA 6.0972246 1050 6 35260530 35260530 C T exonic ZNF76 NA synonymous SNV ZNF76:NM_003427:exon10:c.C1131T:p.S377S exonic ENSG00000065029 NA synonymous SNV ENSG00000065029:ENST00000440666:exon9:c.C1053T:p.S351S,ENSG00000065029:ENST00000339411:exon10:c.C1131T:p.S377S,ENSG00000065029:ENST00000373953:exon10:c.C1131T:p.S377S Score=470;Name=lod=108 NA 6p21.31 Score=795;Name=V$AHRARNT_02 NA NA NA rs1557568 0.64 0.64 0.609 NA NA NA NA NA NA 0.82 0.66 0.74 0.26 0.7613 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 0.992113 NA 0.9 0.808372 0.351112 NA 0.587 NA 6.0969946 1050 22 19122665 19122665 C T exonic DGCR14 NA synonymous SNV DGCR14:NM_022719:exon9:c.G1059A:p.E353E exonic ENSG00000100056 NA synonymous SNV ENSG00000100056:ENST00000252137:exon9:c.G1059A:p.E353E Score=533;Name=lod=196 NA 22q11.21 NA NA NA NA rs2240111 0.15 0.15 0.142 0.166134 0.1869 0.121 0.1326 0.1203 0.2771 0.19 0.12 0.16 0.11 0.1819 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.354476 1.354476 NA 0.201047 0.116432 NA 0.174 NA 6.0968196 1050 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 1050 1 110883569 110883569 A T exonic RBM15 NA synonymous SNV RBM15:NM_001201545:exon1:c.A1542T:p.P514P,RBM15:NM_022768:exon1:c.A1542T:p.P514P exonic ENSG00000162775 NA synonymous SNV ENSG00000162775:ENST00000369784:exon1:c.A1542T:p.P514P,ENSG00000162775:ENST00000487146:exon1:c.A1542T:p.P514P,ENSG00000162775:ENST00000602849:exon1:c.A1542T:p.P514P Score=741;Name=lod=1370 NA 1p13.3 NA NA NA NA rs3738752 0.17 0.17 0.17 0.176118 0.1889 0.2609 0.1614 0.0318 0.2812 0.2 0.27 0.17 0.04 0.196 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.532756 NA NA 0.185465 0.055833 ID=COSM146575;OCCURENCE=1(stomach) 0.101 NA 6.0963016 1050 17 44248499 44248499 G C exonic KANSL1 NA synonymous SNV KANSL1:NM_001193466:exon2:c.C1011G:p.S337S,KANSL1:NM_015443:exon2:c.C1011G:p.S337S,KANSL1:NM_001193465:exon3:c.C1011G:p.S337S exonic ENSG00000120071 NA synonymous SNV ENSG00000120071:ENST00000432791:exon1:c.C1011G:p.S337S,ENSG00000120071:ENST00000575318:exon1:c.C1011G:p.S337S,ENSG00000120071:ENST00000262419:exon2:c.C1011G:p.S337S,ENSG00000120071:ENST00000572904:exon2:c.C1011G:p.S337S,ENSG00000120071:ENST00000574590:exon2:c.C1011G:p.S337S Score=746;Name=lod=1434 NA 17q21.31 NA NA NA NA rs2240758 0.24 0.24 0.18 0.191094 0.1928 0.4097 0.2968 0.0076 0.137 0.21 0.47 0.24 0.01 0.2105 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206152 NA NA 0.167558 0.038357 NA 0.159 NA 6.0958086 1050 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 1050 7 86800351 86800351 A G exonic DMTF1 NA synonymous SNV DMTF1:NM_001142326:exon4:c.A9G:p.A3A,DMTF1:NM_001142327:exon5:c.A273G:p.A91A,DMTF1:NM_021145:exon7:c.A273G:p.A91A exonic ENSG00000135164 NA synonymous SNV ENSG00000135164:ENST00000411766:exon4:c.A150G:p.A50A,ENSG00000135164:ENST00000425406:exon4:c.A150G:p.A50A,ENSG00000135164:ENST00000425705:exon4:c.A273G:p.A91A,ENSG00000135164:ENST00000430405:exon4:c.A273G:p.A91A,ENSG00000135164:ENST00000432937:exon4:c.A9G:p.A3A,ENSG00000135164:ENST00000547146:exon4:c.A273G:p.A91A,ENSG00000135164:ENST00000579850:exon4:c.A150G:p.A50A,ENSG00000135164:ENST00000331242:exon5:c.A273G:p.A91A,ENSG00000135164:ENST00000394702:exon5:c.A273G:p.A91A,ENSG00000135164:ENST00000412139:exon5:c.A273G:p.A91A,ENSG00000135164:ENST00000413276:exon5:c.A273G:p.A91A,ENSG00000135164:ENST00000420131:exon5:c.A9G:p.A3A,ENSG00000135164:ENST00000434534:exon5:c.A273G:p.A91A,ENSG00000135164:ENST00000447863:exon5:c.A273G:p.A91A,ENSG00000135164:ENST00000579677:exon5:c.A273G:p.A91A,ENSG00000135164:ENST00000584619:exon5:c.A273G:p.A91A,ENSG00000135164:ENST00000449088:exon6:c.A273G:p.A91A,ENSG00000135164:ENST00000394703:exon7:c.A273G:p.A91A Score=631;Name=lod=490 NA 7q21.12 Score=973;Name=V$EN1_01 Name=MEF2A,PU.1 NA NA rs3747807 0.78 0.78 0.766 0.785543 0.8867 0.6121 0.7853 0.8245 0.8078 0.89 0.6 0.79 0.82 0.8211 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.70258 1.70258 NA 0.863605 0.817295 NA 0.841 NA 6.0952616 1050 6 97058567 97058567 A G exonic FHL5 NA synonymous SNV FHL5:NM_001170807:exon5:c.A624G:p.P208P,FHL5:NM_020482:exon6:c.A624G:p.P208P exonic ENSG00000112214 NA synonymous SNV ENSG00000112214:ENST00000450218:exon5:c.A624G:p.P208P,ENSG00000112214:ENST00000541107:exon5:c.A624G:p.P208P,ENSG00000112214:ENST00000326771:exon6:c.A624G:p.P208P Score=378;Name=lod=46 NA 6q16.1 NA NA NA NA rs2273622 0.14 0.14 0.135 0.13758 0.2117 0.0357 0.183 0.115 0.1646 0.2 0.04 0.21 0.13 0.1654 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.389561 1.389561 NA 0.194535 0.111666 NA 0.109 NA 6.0950316 1051 1 215848062 215848062 C T exonic USH2A NA synonymous SNV USH2A:NM_206933:exon63:c.G13191A:p.E4397E exonic ENSG00000042781 NA synonymous SNV ENSG00000042781:ENST00000307340:exon63:c.G13191A:p.E4397E,ENSG00000042781:ENST00000366943:exon63:c.G13191A:p.E4397E NA NA 1q41 NA NA NA NA rs2009923 0.21 0.21 0.177 0.203474 0.1859 0.3522 0.1844 0.0348 0.3098 0.19 0.38 0.22 0.03 0.1993 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.604639 NA NA 0.186628 0.062188 NA 0.145 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041736.1|RCV000126269.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.0948386 1051 6 11185533 11185533 G A exonic NEDD9 NA synonymous SNV NEDD9:NM_001271033:exon6:c.C1920T:p.T640T,NEDD9:NM_006403:exon7:c.C2367T:p.T789T,NEDD9:NM_001142393:exon8:c.C2367T:p.T789T exonic ENSG00000111859 NA synonymous SNV ENSG00000111859:ENST00000379446:exon7:c.C2367T:p.T789T,ENSG00000111859:ENST00000504387:exon8:c.C2367T:p.T789T NA NA 6p24.2 Score=829;Name=V$RFX1_02 Name=YY1,YY1_(C-20),Pol2 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 1051 5 80604430 80604430 C T exonic ZCCHC9 NA synonymous SNV ZCCHC9:NM_001131035:exon3:c.C435T:p.A145A,ZCCHC9:NM_001131036:exon3:c.C435T:p.A145A,ZCCHC9:NM_032280:exon3:c.C435T:p.A145A exonic ENSG00000131732 NA synonymous SNV ENSG00000131732:ENST00000254037:exon2:c.C435T:p.A145A,ENSG00000131732:ENST00000380199:exon3:c.C435T:p.A145A,ENSG00000131732:ENST00000407610:exon3:c.C435T:p.A145A,ENSG00000131732:ENST00000438268:exon3:c.C435T:p.A145A Score=488;Name=lod=128 NA 5q14.1 NA NA NA NA rs1055383 0.15 0.15 0.13 0.138578 0.1849 0.0149 0.304 0.0991 0.1544 0.19 0.02 0.28 0.12 0.1909 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.56829 1.56829 NA 0.196977 0.113255 NA 0.203 NA 6.0938896 1051 12 104171742 104171742 C T exonic NT5DC3 NA synonymous SNV NT5DC3:NM_001031701:exon14:c.G1512A:p.L504L exonic ENSG00000111696 NA synonymous SNV ENSG00000111696:ENST00000392876:exon14:c.G1512A:p.L504L Score=436;Name=lod=79 NA 12q23.3 NA NA NA NA rs17034524 0.24 0.24 0.208 0.224441 0.1829 0.4375 0.2104 0.087 0.2434 0.19 0.44 0.22 0.1 0.2211 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.484601 1.484601 NA 0.168953 0.095098 ID=COSM147592;OCCURENCE=1(stomach) 0.21 NA 6.0937136 1051 19 56114045 56114045 C T exonic ZNF524 NA synonymous SNV ZNF524:NM_153219:exon2:c.C567T:p.H189H exonic ENSG00000171443 NA synonymous SNV ENSG00000171443:ENST00000591046:exon1:c.C567T:p.H189H,ENSG00000171443:ENST00000301073:exon2:c.C567T:p.H189H Score=321;Name=lod=27 NA 19q13.42 Score=904;Name=V$PAX4_03 NA NA NA rs1077806 0.53 0.53 0.514 0.528754 0.5298 0.6329 0.4726 0.385 0.6544 0.54 0.68 0.43 0.4 0.5568 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48691 NA NA 0.486532 0.402507 NA 0.493 NA 6.0935346 1051 4 71468985 71468985 A G exonic AMBN NA synonymous SNV AMBN:NM_016519:exon10:c.A657G:p.Q219Q exonic ENSG00000178522 NA synonymous SNV ENSG00000178522:ENST00000322937:exon10:c.A657G:p.Q219Q,ENSG00000178522:ENST00000449493:exon10:c.A612G:p.Q204Q Score=391;Name=lod=52 NA 4q13.3 NA NA NA NA rs35266919 0.11 0.11 0.1 0.0760783 0.1938 0.003 0.1225 0.0363 0.0511 0.22 0.0035 0.14 0.04 0.1565 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257665 NA NA 0.223412 0.067212 NA 0.051 NA 6.0929546 1051 17 54978794 54978794 G A exonic TRIM25 NA nonsynonymous SNV TRIM25:NM_005082:exon4:c.C1073T:p.P358L exonic ENSG00000121060 NA nonsynonymous SNV ENSG00000121060:ENST00000316881:exon4:c.C1073T:p.P358L,ENSG00000121060:ENST00000537230:exon4:c.C1073T:p.P358L Score=321;Name=lod=27 NA 17q22 NA NA NA NA rs205498 0.78 0.78 0.781 0.774361 0.7535 0.8095 0.7061 0.8411 0.7178 0.75 0.83 0.71 0.81 0.7485 0.83 0.33 T 0.05 B 0.019 B 0.147 N 0.006 P 0 N -0.21 T -0.956 T 0.000 T 0.058 1.614 11.35 0.603 0.050 -0.009 3.949 1.61407 1.61407 0.13 0.738605 0.809124 NA 0.819 NA 6.0927284 1051 4 99850126 99850126 A G UTR5 EIF4E NM_001130678:c.-3T>C NA NA ncRNA_UTR5 ENSG00000151247 NA NA NA Score=284;Name=lod=19 NA 4q23 NA Name=PAX5-C20,YY1_(C-20),c-Myc,YY1,ZBTB7A_(SC-34508),CTCF,Pol2,HA-E2F1,GATA-2,HEY1,ELF1_(SC-631),GATA-1,HMGN3,TAF1,NFKB,Pol2-4H8 Name=35 NA rs11723037 0.62 0.62 0.62 0.614217 0.4553 0.6845 0.4841 0.8971 0.4151 0.45 0.72 0.46 0.89 0.5189 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 0.312291 NA NA 0.43338 0.814111 NA 0.609 NA 6.09242 1051 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 1051 22 44465036 44465036 C T UTR5 PARVB NM_001243385:c.-6C>T NA NA UTR5 ENSG00000188677 ENST00000404989:c.-6C>T NA NA NA NA 22q13.31 NA Name=EBF1_(C-8),CTCF Name=19 NA rs73888833 0.08 0.08 0.101 0.0958466 0.0726 0.001 0.0533 0.2179 0.0828 0.08 0.0017 0.07 0.2 0.0812 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044667 NA NA 0.087644 0.202626 NA 0.058 NA 6.0918894 1051 X 55479299 55479299 G A exonic MAGEH1 NA synonymous SNV MAGEH1:NM_014061:exon1:c.G492A:p.G164G exonic ENSG00000187601 NA synonymous SNV ENSG00000187601:ENST00000342972:exon1:c.G492A:p.G164G NA NA Xp11.21 NA NA Name=31 NA rs11545211 0.25 0.25 0.22496 NA NA NA NA NA NA 0.26 0.33 0.39 0.06 0.2927 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.358172 NA NA 0.282699 0.07588 NA 0.145 NA 6.0912676 1051 5 78328560 78328560 G A exonic DMGDH NA synonymous SNV DMGDH:NM_013391:exon9:c.C1467T:p.G489G exonic ENSG00000132837 NA synonymous SNV ENSG00000132837:ENST00000540686:exon4:c.C327T:p.G109G,ENSG00000132837:ENST00000380311:exon6:c.C864T:p.G288G,ENSG00000132837:ENST00000523732:exon6:c.C984T:p.G328G,ENSG00000132837:ENST00000255189:exon9:c.C1467T:p.G489G Score=601;Name=lod=368 NA 5q14.1 NA NA NA NA rs1805072 0.2 0.2 0.211 0.198682 0.1988 0.1399 0.134 0.2398 0.2495 0.2 0.16 0.13 0.3 0.1888 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.361234 1.361234 NA 0.188488 0.228098 NA 0.174 NA 6.0905786 1051 5 178634547 178634547 G A exonic ADAMTS2 NA synonymous SNV ADAMTS2:NM_014244:exon4:c.C858T:p.H286H,ADAMTS2:NM_021599:exon4:c.C858T:p.H286H exonic ENSG00000087116 NA synonymous SNV ENSG00000087116:ENST00000251582:exon4:c.C858T:p.H286H,ENSG00000087116:ENST00000274609:exon4:c.C858T:p.H286H Score=556;Name=lod=243 NA 5q35.3 NA NA NA NA rs66565583 0.12 0.12 0.129 0.135783 0.2078 0.0089 0.1369 0.1309 0.1984 0.21 0.0017 0.16 0.1 0.1722 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.833552 NA NA 0.196628 0.128688 NA 0.225 NA 6.0900386 1051 13 111090909 111090909 T C intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA NA NA rs7984937 0.3 0.3 0.336 0.31849 0.325 0.1071 0.3098 0.5772 0.1861 0.31 0.09 0.31 0.55 0.2881 0.55 0.38 T . . . . 0.001 D 1.000 P . . . . -0.921 T 0.000 T . -0.179 3.128 -0.114 -0.613 -2.530 4.100 -0.178971 NA NA 0.296901 0.53699 NA 0.391 NA 6.089999 1051 3 108081247 108081247 G A exonic HHLA2 NA synonymous SNV HHLA2:NM_007072:exon7:c.G1062A:p.A354A exonic ENSG00000114455 NA synonymous SNV ENSG00000114455:ENST00000467761:exon6:c.G1062A:p.A354A,ENSG00000114455:ENST00000357759:exon7:c.G1062A:p.A354A,ENSG00000114455:ENST00000489514:exon7:c.G1062A:p.A354A,ENSG00000114455:ENST00000467562:exon8:c.G870A:p.A290A,ENSG00000114455:ENST00000491820:exon8:c.G1062A:p.A354A NA NA 3q13.13 NA NA NA NA rs16854512 0.15 0.15 0.14 0.154353 0.1928 0.0536 0.1686 0.2292 0.1074 0.18 0.03 0.2 0.22 0.1863 0.22 . . . . . . . . 1.000 P . . . . -1.014 T 0.000 T . -0.265 2.73 0.437 0.067 -0.619 2.523 -0.264632 NA NA 0.197947 0.201913 NA 0.275 NA 6.0896196 1051 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=IRF1,SP1,c-Fos,NF-YB,TR4,HA-E2F1,CHD2_(N-1250),Pol2,ELF1_(SC-631),Pol2-4H8,GABP,TAF1 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 1051 13 74339104 74339104 G T exonic KLF12 NA synonymous SNV KLF12:NM_007249:exon6:c.C840A:p.G280G exonic ENSG00000118922 NA synonymous SNV ENSG00000118922:ENST00000377669:exon5:c.C840A:p.G280G,ENSG00000118922:ENST00000377666:exon6:c.C840A:p.G280G Score=532;Name=lod=194 NA 13q22.1 Score=762;Name=V$STAT5A_02 NA NA NA rs3764134 0.38 0.38 0.37 0.407748 0.5209 0.1815 0.389 0.388 0.5644 0.51 0.18 0.42 0.38 0.487 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.006681 NA NA 0.569419 0.403995 NA 0.312 NA 6.0893476 1051 10 69597786 69597786 G A UTR5 DNAJC12 NM_021800:c.-17C>T,NM_201262:c.-17C>T NA NA UTR5 ENSG00000108176 ENST00000225171:c.-17C>T,ENST00000483798:c.-17C>T,ENST00000480963:c.-17C>T,ENST00000339758:c.-17C>T,ENST00000480180:c.-17C>T NA NA NA NA 10q21.3 NA Name=TBP,Mxi1_(bHLH),Sin3Ak-20,HEY1,Pol2-4H8,TAF1,CTCF,E2F6,Pol2 Name=130 NA rs2273771 0.14 0.14 0.124 0.130192 0.0746 0.3115 0.1311 0.0242 0.1431 0.07 0.34 0.12 0.02 0.1077 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.331957 1.331957 NA 0.061977 0.035893 NA 0.123 NA 6.0890564 1051 22 50356693 50356693 T C exonic PIM3 NA nonsynonymous SNV PIM3:NM_001001852:exon6:c.T899C:p.V300A exonic ENSG00000198355 NA nonsynonymous SNV ENSG00000198355:ENST00000360612:exon6:c.T899C:p.V300A NA NA 22q13.33 NA Name=TAF1,ZBTB7A_(SC-34508) NA NA rs4077129 0.78 0.78 0.751 0.72504 0.7674 0.7778 0.817 0.761 0.5133 0.76 0.8 0.81 0.77 0.728 0.81 0.91 T 0.003 B 0.001 B 0.810 N 1.000 P 0 N 2.12 T -0.983 T 0.000 T 0.015 -1.475 0.018 -1.31 -0.060 0.398 4.607 -1.475491 NA 0.39 0.749069 0.76492 ID=COSM445150;OCCURENCE=1(breast) 0.768 NA 6.0888644 1051 9 136518097 136518097 A G exonic DBH NA synonymous SNV DBH:NM_000787:exon9:c.A1410G:p.T470T exonic ENSG00000123454 NA synonymous SNV ENSG00000123454:ENST00000393056:exon9:c.A1410G:p.T470T Score=432;Name=lod=76 NA 9q34.2 Score=858;Name=V$FAC1_01 NA NA NA rs77905 0.65 0.65 0.614 0.621206 0.5199 0.9038 0.5937 0.5703 0.5225 0.53 0.91 0.58 0.57 0.5571 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183638 NA NA 0.501395 0.572401 ID=COSM35319;OCCURENCE=1(breast),1(central_nervous_system) 0.594 NA 6.0882716 1051 9 73151715 73151715 C T exonic TRPM3 NA synonymous SNV TRPM3:NM_206944:exon24:c.G3789A:p.L1263L,TRPM3:NM_001007471:exon25:c.G4278A:p.L1426L,TRPM3:NM_020952:exon25:c.G3819A:p.L1273L,TRPM3:NM_206945:exon25:c.G3825A:p.L1275L,TRPM3:NM_206947:exon25:c.G3864A:p.L1288L,TRPM3:NM_024971:exon26:c.G3855A:p.L1285L,TRPM3:NM_206946:exon26:c.G3894A:p.L1298L exonic ENSG00000083067 NA synonymous SNV ENSG00000083067:ENST00000358082:exon23:c.G3864A:p.L1288L,ENSG00000083067:ENST00000396280:exon23:c.G3825A:p.L1275L,ENSG00000083067:ENST00000396285:exon23:c.G3855A:p.L1285L,ENSG00000083067:ENST00000396292:exon24:c.G3894A:p.L1298L,ENSG00000083067:ENST00000408909:exon24:c.G3855A:p.L1285L,ENSG00000083067:ENST00000357533:exon25:c.G4290A:p.L1430L,ENSG00000083067:ENST00000360823:exon25:c.G3864A:p.L1288L,ENSG00000083067:ENST00000377110:exon25:c.G4278A:p.L1426L,ENSG00000083067:ENST00000377105:exon26:c.G3855A:p.L1285L,ENSG00000083067:ENST00000377106:exon26:c.G3894A:p.L1298L,ENSG00000083067:ENST00000423814:exon26:c.G4359A:p.L1453L Score=329;Name=lod=29 NA 9q21.12 Score=672;Name=V$P53_01 NA NA NA rs7033976 0.89 0.89 0.878 0.855831 0.8658 0.9762 0.915 0.857 0.6779 0.86 0.99 0.9 0.84 0.8559 0.99 . . . . . . . . 0.000 P . . . . -1.024 T 0.000 T . -0.234 2.869 0.538 0.450 -0.115 1.144 -0.234468 NA 0.2 0.857209 0.859964 NA 0.92 NA 6.0877576 1051 4 7435194 7435194 G A exonic PSAPL1 NA synonymous SNV PSAPL1:NM_001085382:exon1:c.C1413T:p.G471G exonic ENSG00000178597 NA synonymous SNV ENSG00000178597:ENST00000319098:exon1:c.C1413T:p.G471G NA NA 4p16.1 Score=770;Name=V$AHRARNT_02 NA NA NA rs12498567 0.13 0.13 0.128 0.115216 0.1839 0.1111 0.1138 0.1036 0.0654 0.19 0.09 0.12 0.09 0.2201 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.312286 NA NA 0.175036 0.124051 NA 0.094 NA 6.0876306 1051 10 52103707 52103707 A G exonic SGMS1 NA synonymous SNV SGMS1:NM_147156:exon7:c.T168C:p.N56N exonic ENSG00000198964 NA synonymous SNV ENSG00000198964:ENST00000361543:exon1:c.T168C:p.N56N,ENSG00000198964:ENST00000361781:exon7:c.T168C:p.N56N Score=596;Name=lod=354 NA 10q11.23 Score=871;Name=V$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 1051 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=ELF1_(SC-631),ZNF263,CTCF,Pol2,Pol2(phosphoS2),HA-E2F1,CHD2_(N-1250) 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 1051 6 10906256 10906256 A G exonic SYCP2L NA synonymous SNV SYCP2L:NM_001040274:exon9:c.A645G:p.K215K exonic ENSG00000153157 NA synonymous SNV ENSG00000153157:ENST00000283141:exon9:c.A645G:p.K215K,ENSG00000153157:ENST00000341041:exon9:c.A645G:p.K215K,ENSG00000153157:ENST00000543878:exon11:c.A168G:p.K56K Score=507;Name=lod=154 NA 6p24.2 NA NA NA NA rs4713039 0.2 0.2 0.194 0.196086 0.1879 0.377 0.1066 0.034 0.3006 0.2 0.42 0.12 0.03 0.1991 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.050478 NA NA 0.193797 0.0516 NA 0.072 NA 6.0858696 1052 4 4199760 4199760 G A exonic OTOP1 NA synonymous SNV OTOP1:NM_177998:exon5:c.C801T:p.I267I exonic ENSG00000163982 NA synonymous SNV ENSG00000163982:ENST00000296358:exon5:c.C801T:p.I267I Score=491;Name=lod=132 NA 4p16.3 NA NA NA NA rs17697262 0.1 0.1 0.089 0.0860623 0.1899 0.0218 0.1009 0.0197 0.1247 0.21 0.02 0.12 0.02 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 -0.652714 NA NA 0.225581 0.062188 NA 0.043 NA 6.0849856 1052 6 133049865 133049865 A T ncRNA_intronic VNN3 NA NA NA intronic ENSG00000093134 NA NA NA NA NA 6q23.2 NA Name=CTCF_(SC-5916),CTCF,Rad21 Name=7 NA rs13211436 0.06 0.06 0.047 0.0539137 0.0825 0.0218 0.1643 0.0053 0.045 0.09 0.01 0.17 0.01 0.0822 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.884552 NA NA 0.083721 0.017703 NA 0.051 NA 6.0849123 1052 14 55818706 55818706 T C exonic FBXO34 NA nonsynonymous SNV FBXO34:NM_017943:exon2:c.T1598C:p.L533P,FBXO34:NM_152231:exon2:c.T1598C:p.L533P exonic ENSG00000178974 NA nonsynonymous SNV ENSG00000178974:ENST00000555280:exon1:c.T1196C:p.L399P,ENSG00000178974:ENST00000313833:exon2:c.T1598C:p.L533P,ENSG00000178974:ENST00000440021:exon2:c.T1598C:p.L533P NA NA 14q22.3 NA NA NA NA rs3742569 0.39 0.39 0.365 0.397764 0.4245 0.3185 0.3314 0.4713 0.3998 0.43 0.33 0.33 0.46 0.402 0.46 0.14 T 0.0 B 0.0 B 0.444 N 1.000 P -1.1 N 2.1 T -0.926 T 0.000 T 0.05 -0.898 0.442 -1.35 -0.553 -0.774 11.688 -0.898108 NA 0.11 0.421977 0.450295 ID=COSM147785;OCCURENCE=1(stomach) 0.42 NA 6.0848564 1052 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 1052 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 1052 7 158528233 158528233 A G exonic ESYT2 NA synonymous SNV ESYT2:NM_020728:exon20:c.T2547C:p.S849S exonic ENSG00000117868 NA synonymous SNV ENSG00000117868:ENST00000435514:exon5:c.T852C:p.S284S,ENSG00000117868:ENST00000251527:exon20:c.T2547C:p.S849S,ENSG00000117868:ENST00000275418:exon21:c.T2520C:p.S840S NA NA 7q36.3 Score=839;Name=V$TST1_01 NA NA NA rs3816462 0.33 0.33 0.336 0.353435 0.173 0.6022 0.183 0.4387 0.2883 0.17 0.57 0.18 0.42 0.2364 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.765755 NA NA 0.172791 0.373355 NA 0.225 NA 6.0844756 1052 19 52887437 52887437 A C exonic ZNF880 NA nonsynonymous SNV ZNF880:NM_001145434:exon4:c.A604C:p.N202H exonic ENSG00000221923 NA nonsynonymous SNV ENSG00000221923:ENST00000422689:exon4:c.A604C:p.N202H NA NA 19q13.41 NA NA NA NA rs8104812 0.34 0.34 0.326 0.378794 0.4205 0.3462 0.379 0.2405 0.5562 0.41 0.31 0.38 0.24 0.4469 0.41 . . 0.0 B 0.0 B . . 1.000 P -3.26 N 2.64 T -0.949 T 0.000 T 0.016 -2.223 0.005 0.682 -0.288 0.069 5.350 -2.223193 NA 1 0.381521 0.283237 NA 0.457 NA 6.0844124 1052 4 186294198 186294198 C T exonic LRP2BP NA synonymous SNV LRP2BP:NM_018409:exon6:c.G615A:p.G205G exonic ENSG00000109771 NA synonymous SNV ENSG00000109771:ENST00000510776:exon5:c.G537A:p.G179G,ENSG00000109771:ENST00000328559:exon6:c.G615A:p.G205G,ENSG00000109771:ENST00000362004:exon6:c.G621A:p.G207G,ENSG00000109771:ENST00000505916:exon7:c.G615A:p.G205G NA NA 4q35.1 Score=845;Name=V$HAND1E47_01 NA NA NA rs3797026 0.23 0.23 0.219 0.227436 0.1918 0.1845 0.2666 0.3177 0.1585 0.19 0.22 0.27 0.29 0.2002 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950348 NA NA 0.190465 0.283477 NA 0.225 NA 6.0842016 1052 17 3559823 3559823 G A exonic CTNS NA synonymous SNV CTNS:NM_001031681:exon8:c.G504A:p.T168T,CTNS:NM_004937:exon8:c.G504A:p.T168T exonic ENSG00000040531 NA synonymous SNV ENSG00000040531:ENST00000414524:exon5:c.G63A:p.T21T,ENSG00000040531:ENST00000441220:exon5:c.G180A:p.T60T,ENSG00000040531:ENST00000574218:exon5:c.G63A:p.T21T,ENSG00000040531:ENST00000046640:exon8:c.G504A:p.T168T,ENSG00000040531:ENST00000381870:exon8:c.G504A:p.T168T NA NA 17p13.2 NA Name=Pol2 NA NA rs1800528 0.16 0.16 0.14 0.150559 0.2147 0.2063 0.1945 0.0151 0.1789 0.2 0.22 0.19 0.03 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 0.750704 NA NA 0.181512 0.046754 NA 0.101 NA 6.0840546 1052 16 75563746 75563746 T G exonic CHST5 NA synonymous SNV CHST5:NM_024533:exon3:c.A537C:p.P179P exonic ENSG00000135702 NA synonymous SNV ENSG00000135702:ENST00000541075:exon2:c.A555C:p.P185P,ENSG00000135702:ENST00000336257:exon3:c.A537C:p.P179P Score=333;Name=lod=30 NA 16q23.1 NA NA NA NA rs8048818 0.21 0.21 0.2 0.202077 0.1998 0.2073 0.1441 0.3359 0.0593 0.19 0.17 0.19 0.32 0.1867 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111207 NA NA 0.196325 0.320064 NA 0.159 NA 6.0838416 1052 4 75858518 75858518 G C UTR5 PARM1 NM_015393:c.-20G>C NA NA UTR5 ENSG00000169116 ENST00000513238:c.-20G>C,ENST00000307428:c.-20G>C NA NA NA NA 4q13.3 NA Name=SUZ12,Pol2-4H8,ELF1_(SC-631),CTCF Name=15 NA rs75120017 0.05 0.05 0.043 0.0399361 0.0895 0.003 0.0519 0.0454 0.0112 0.09 0.0035 0.07 0.03 0.0698 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 1.170532 NA NA 0.090295 0.05038 NA 0.022 NA 6.0837384 1052 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 1052 2 18113508 18113508 G A exonic KCNS3 NA synonymous SNV KCNS3:NM_002252:exon3:c.G1233A:p.K411K exonic ENSG00000170745 NA synonymous SNV ENSG00000170745:ENST00000304101:exon3:c.G1233A:p.K411K,ENSG00000170745:ENST00000403915:exon3:c.G1233A:p.K411K Score=607;Name=lod=391 NA 2p24.2 NA NA NA NA rs3747516 0.31 0.31 0.278 0.357029 0.164 0.4702 0.3833 0.3343 0.4509 0.17 0.5 0.32 0.32 0.2614 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025566 NA NA 0.158023 0.287335 NA 0.261 NA 6.0832436 1052 7 87079406 87079406 T A exonic ABCB4 NA synonymous SNV ABCB4:NM_000443:exon8:c.A711T:p.I237I,ABCB4:NM_018849:exon8:c.A711T:p.I237I,ABCB4:NM_018850:exon8:c.A711T:p.I237I exonic ENSG00000005471 NA synonymous SNV ENSG00000005471:ENST00000453593:exon7:c.A711T:p.I237I,ENSG00000005471:ENST00000545634:exon7:c.A711T:p.I237I,ENSG00000005471:ENST00000265723:exon8:c.A711T:p.I237I,ENSG00000005471:ENST00000358400:exon8:c.A711T:p.I237I,ENSG00000005471:ENST00000359206:exon8:c.A711T:p.I237I Score=391;Name=lod=52 NA 7q21.12 NA NA NA NA rs2109505 0.25 0.25 0.241 0.261382 0.1909 0.2708 0.2147 0.3389 0.2526 0.19 0.26 0.19 0.37 0.2101 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.134207 2.134207 NA 0.182674 0.307308 NA 0.333 NA 6.0829926 1052 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 1052 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 1052 6 31721033 31721033 G A ncRNA_intronic MSH5-SAPCD1 NA NA NA intronic ENSG00000204410,ENSG00000255152 NA NA NA NA Name=Systemic lupus erythematosus 6p21.33 NA NA Name=2 NA rs3131379 0.04 0.04 0.047 0.033746 0.0746 NA 0.0274 0.0567 NA 0.08 NA 0.03 0.06 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 0.106104 NA NA 0.108372 0.067862 NA 0.087 NA 6.0822613 1052 3 154898127 154898127 A G intronic MME NA NA NA ncRNA_intronic ENSG00000240666 NA NA NA NA NA 3q25.2 NA Name=CTCF,MafK_(ab50322) Name=6 NA rs16824656 0.14 0.14 0.152 0.153554 0.0736 0.1736 0.0807 0.233 0.1595 0.08 0.18 0.07 0.25 0.1042 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.990535 1.990535 NA 0.073953 0.193146 NA 0.123 NA 6.0815803 1052 1 183909717 183909717 G A exonic COLGALT2 NA synonymous SNV COLGALT2:NM_015101:exon11:c.C1602T:p.P534P exonic ENSG00000198756 NA synonymous SNV ENSG00000198756:ENST00000367521:exon3:c.C426T:p.P142P,ENSG00000198756:ENST00000367520:exon6:c.C813T:p.P271P,ENSG00000198756:ENST00000361927:exon11:c.C1602T:p.P534P,ENSG00000198756:ENST00000546159:exon11:c.C1602T:p.P534P Score=536;Name=lod=201 NA 1q25.3 NA NA NA NA rs2296713 0.19 0.19 0.173 0.172324 0.1978 0.1776 0.245 0.0726 0.2239 0.2 0.2 0.27 0.09 0.1984 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.478471 1.478471 NA 0.19 0.094417 NA 0.152 NA 6.0804666 1052 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 1052 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 1052 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 1052 11 129746707 129746707 G T exonic NFRKB NA synonymous SNV NFRKB:NM_006165:exon15:c.C1731A:p.G577G,NFRKB:NM_001143835:exon17:c.C1656A:p.G552G exonic ENSG00000170322 NA synonymous SNV ENSG00000170322:ENST00000304521:exon15:c.C1656A:p.G552G,ENSG00000170322:ENST00000524794:exon15:c.C1731A:p.G577G,ENSG00000170322:ENST00000446488:exon16:c.C1656A:p.G552G,ENSG00000170322:ENST00000531755:exon16:c.C1686A:p.G562G,ENSG00000170322:ENST00000524746:exon17:c.C1656A:p.G552G NA NA 11q24.3 Score=824;Name=V$HMX1_01 NA NA NA rs2229650 0.24 0.24 0.233 0.273762 0.2018 0.3869 0.2349 0.2156 0.3374 0.19 0.36 0.24 0.18 0.2206 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.210585 NA NA 0.164882 0.195139 NA 0.246 NA 6.0793846 1052 6 146755140 146755140 G A exonic GRM1 NA synonymous SNV GRM1:NM_000838:exon9:c.G2793A:p.K931K exonic ENSG00000152822 NA synonymous SNV ENSG00000152822:ENST00000282753:exon8:c.G2793A:p.K931K,ENSG00000152822:ENST00000361719:exon9:c.G2793A:p.K931K Score=716;Name=lod=1081 NA 6q24.3 NA NA NA NA rs2942 0.52 0.52 0.501 0.534545 0.5457 0.5466 0.4568 0.4902 0.6258 0.54 0.53 0.47 0.52 0.509 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.722548 NA NA 0.532907 0.490921 NA 0.522 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117204.2;CLNDSDB=.;CLNDSDBID=. 6.0790596 1052 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 1052 12 22602796 22602796 A G exonic C2CD5 NA synonymous SNV C2CD5:NM_014802:exon25:c.T2901C:p.D967D exonic ENSG00000111731 NA synonymous SNV ENSG00000111731:ENST00000333957:exon25:c.T2901C:p.D967D,ENSG00000111731:ENST00000542676:exon26:c.T3054C:p.D1018D,ENSG00000111731:ENST00000396028:exon27:c.T3027C:p.D1009D,ENSG00000111731:ENST00000446597:exon27:c.T3054C:p.D1018D,ENSG00000111731:ENST00000536386:exon28:c.T3060C:p.D1020D,ENSG00000111731:ENST00000544930:exon28:c.T2469C:p.D823D,ENSG00000111731:ENST00000545552:exon28:c.T3063C:p.D1021D NA NA 12p12.1 NA NA NA NA rs2063573 0.64 0.64 0.658 0.666134 0.8917 0.1389 0.7421 0.8109 0.728 0.89 0.13 0.73 0.79 0.7938 0.9 . . . . . . . . 0.000 P . . . . -0.969 T 0.000 T . -0.891 0.457 -8.97 -3.808 0.028 21.896 -0.891017 NA NA 0.902674 0.828643 NA 0.79 NA 6.0784926 1052 3 42610515 42610515 G A exonic SEC22C NA synonymous SNV SEC22C:NM_001201572:exon2:c.C24T:p.C8C,SEC22C:NM_001201584:exon2:c.C24T:p.C8C,SEC22C:NM_004206:exon2:c.C24T:p.C8C,SEC22C:NM_032970:exon2:c.C24T:p.C8C exonic ENSG00000093183 NA synonymous SNV ENSG00000093183:ENST00000264454:exon2:c.C24T:p.C8C,ENSG00000093183:ENST00000273156:exon2:c.C24T:p.C8C,ENSG00000093183:ENST00000383750:exon2:c.C24T:p.C8C,ENSG00000093183:ENST00000417572:exon2:c.C24T:p.C8C,ENSG00000093183:ENST00000423701:exon2:c.C24T:p.C8C,ENSG00000093183:ENST00000445388:exon2:c.C24T:p.C8C,ENSG00000093183:ENST00000449617:exon2:c.C24T:p.C8C,ENSG00000093183:ENST00000454141:exon2:c.C24T:p.C8C,ENSG00000093183:ENST00000456515:exon2:c.C24T:p.C8C,ENSG00000093183:ENST00000416880:exon3:c.C24T:p.C8C,ENSG00000093183:ENST00000450981:exon3:c.C24T:p.C8C,ENSG00000093183:ENST00000420163:exon4:c.C24T:p.C8C Score=586;Name=lod=322 NA 3p22.1 NA NA NA NA rs2271187 0.3 0.3 0.307 0.313898 0.1789 0.4673 0.2118 0.3956 0.2566 0.18 0.44 0.2 0.4 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 1.256334 1.256334 NA 0.186977 0.338175 NA 0.29 NA 6.0783896 1052 12 105600935 105600935 G A exonic APPL2 NA synonymous SNV APPL2:NM_001251904:exon8:c.C543T:p.H181H,APPL2:NM_001251905:exon8:c.C396T:p.H132H,APPL2:NM_018171:exon8:c.C525T:p.H175H exonic ENSG00000136044 NA synonymous SNV ENSG00000136044:ENST00000553097:exon7:c.C426T:p.H142H,ENSG00000136044:ENST00000258530:exon8:c.C525T:p.H175H,ENSG00000136044:ENST00000539978:exon8:c.C396T:p.H132H,ENSG00000136044:ENST00000547439:exon8:c.C525T:p.H175H,ENSG00000136044:ENST00000551662:exon8:c.C543T:p.H181H Score=494;Name=lod=136 NA 12q23.3 NA NA NA NA rs2293643 0.19 0.19 0.162 0.183506 0.1879 0.2599 0.2421 0.0787 0.2004 0.18 0.26 0.23 0.08 0.2027 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3303 NA NA 0.197791 0.086927 NA 0.232 NA 6.0782756 1052 3 127394820 127394820 C T exonic ABTB1 NA synonymous SNV ABTB1:NM_172027:exon4:c.C183T:p.R61R exonic ENSG00000114626 NA synonymous SNV ENSG00000114626:ENST00000232744:exon4:c.C183T:p.R61R,ENSG00000114626:ENST00000475042:exon4:c.C148T:p.L50L,ENSG00000114626:ENST00000483857:exon4:c.C148T:p.L50L Score=533;Name=lod=195 NA 3q21.3 NA NA NA NA rs35703629 0.13 0.13 0.104 0.115216 0.2227 0.0109 0.121 0.1089 0.1166 0.22 0.01 0.16 0.09 0.1705 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601209 NA NA 0.195996 0.113864 NA 0.138 NA 6.0774706 1052 5 140167463 140167463 C T exonic PCDHA1 NA synonymous SNV PCDHA1:NM_018900:exon1:c.C1588T:p.L530L,PCDHA1:NM_031410:exon1:c.C1588T:p.L530L,PCDHA1:NM_031411:exon1:c.C1588T:p.L530L exonic ENSG00000204970 NA synonymous SNV ENSG00000204970:ENST00000378133:exon1:c.C1588T:p.L530L,ENSG00000204970:ENST00000394633:exon1:c.C1588T:p.L530L,ENSG00000204970:ENST00000504120:exon1:c.C1588T:p.L530L Score=502;Name=lod=146 NA 5q31.3 Score=872;Name=V$ZID_01 NA NA NA rs3733710 0.53 0.53 0.526 0.521565 0.5368 0.5149 0.5865 0.4796 0.5235 0.54 0.53 0.53 0.51 0.5242 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.497862 NA NA 0.528256 0.496142 ID=COSM448711,COSM448712;OCCURENCE=1(breast) 0.486 NA 6.0774106 1052 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 1052 14 77843971 77843971 C T exonic SAMD15 NA synonymous SNV SAMD15:NM_001010860:exon1:c.C210T:p.D70D exonic ENSG00000100583 NA synonymous SNV ENSG00000100583:ENST00000216471:exon1:c.C210T:p.D70D NA NA 14q24.3 NA Name=YY1 NA NA rs45540040 0.13 0.13 0.101 0.141573 0.2038 0.0159 0.2651 0.059 0.2311 0.19 0.01 0.29 0.06 0.1899 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.31071 NA NA 0.19593 0.092828 NA 0.174 NA 6.0770366 1052 18 21513768 21513768 C T exonic LAMA3 NA synonymous SNV LAMA3:NM_001127718:exon29:c.C3736T:p.L1246L,LAMA3:NM_000227:exon30:c.C3904T:p.L1302L,LAMA3:NM_001127717:exon66:c.C8563T:p.L2855L,LAMA3:NM_198129:exon67:c.C8731T:p.L2911L exonic ENSG00000053747 NA synonymous SNV ENSG00000053747:ENST00000587184:exon29:c.C3736T:p.L1246L,ENSG00000053747:ENST00000269217:exon30:c.C3904T:p.L1302L,ENSG00000053747:ENST00000399516:exon66:c.C8563T:p.L2855L,ENSG00000053747:ENST00000313654:exon67:c.C8731T:p.L2911L Score=235;Name=lod=12 NA 18q11.2 NA NA NA NA rs1131521 0.15 0.15 0.144 0.148363 0.2058 0.1815 0.1628 0.0113 0.2301 0.21 0.17 0.17 0.02 0.186 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.879311 1.879311 NA 0.198488 0.043123 NA 0.101 NA 6.0763786 1052 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 1052 16 1827836 1827836 T C exonic SPSB3 NA synonymous SNV SPSB3:NM_080861:exon6:c.A633G:p.S211S exonic ENSG00000162032 NA synonymous SNV ENSG00000162032:ENST00000301717:exon5:c.A633G:p.S211S,ENSG00000162032:ENST00000566339:exon6:c.A633G:p.S211S Score=399;Name=lod=56 NA 16p13.3 Score=838;Name=V$PAX3_01 NA Name=3 NA rs1178432 0.86 0.86 0.853 0.852835 0.8588 0.7391 0.9179 0.9713 0.7577 0.85 0.75 0.94 0.96 0.8592 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 0.962457 NA NA 0.873023 0.952457 NA 0.761 NA 6.0756436 1052 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 1052 19 6913811 6913811 A G exonic EMR1 NA nonsynonymous SNV EMR1:NM_001256254:exon8:c.A847G:p.I283V,EMR1:NM_001256255:exon8:c.A739G:p.I247V,EMR1:NM_001256252:exon10:c.A1114G:p.I372V,EMR1:NM_001256253:exon11:c.A1270G:p.I424V,EMR1:NM_001974:exon11:c.A1270G:p.I424V exonic ENSG00000174837 NA nonsynonymous SNV ENSG00000174837:ENST00000381407:exon8:c.A847G:p.I283V,ENSG00000174837:ENST00000450315:exon8:c.A739G:p.I247V,ENSG00000174837:ENST00000381404:exon10:c.A1114G:p.I372V,ENSG00000174837:ENST00000250572:exon11:c.A1270G:p.I424V,ENSG00000174837:ENST00000312053:exon11:c.A1270G:p.I424V NA NA 19p13.2 NA NA NA NA rs457857 0.74 0.74 0.707 0.706669 0.7445 0.7679 0.7695 0.5681 0.7474 0.77 0.81 0.8 0.57 0.7523 0.81 0.33 T 0.0 B 0.0 B . . 1.000 P -1.79 N 0.4 T -0.965 T 0.000 T 0.017 -0.434 1.983 -1.87 -0.359 -1.408 5.360 -0.433599 NA 0.44 0.761512 0.60168 NA 0.623 NA 6.0750214 1053 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 1053 7 16823095 16823095 G A exonic TSPAN13 NA synonymous SNV TSPAN13:NM_014399:exon6:c.G594A:p.A198A exonic ENSG00000106537 NA synonymous SNV ENSG00000106537:ENST00000262067:exon6:c.G594A:p.A198A Score=588;Name=lod=328 NA 7p21.1 Score=890;Name=V$E2F_02 NA NA NA rs11491 0.43 0.43 0.4 0.420527 0.5497 0.2996 0.5245 0.3056 0.4939 0.55 0.33 0.54 0.29 0.4883 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.067101 NA NA 0.554884 0.315479 ID=COSM150239;OCCURENCE=1(stomach) 0.348 NA 6.0737826 1053 16 2140010 2140010 A G exonic PKD1 NA synonymous SNV PKD1:NM_000296:exon46:c.T12627C:p.P4209P,PKD1:NM_001009944:exon46:c.T12630C:p.P4210P exonic ENSG00000008710 NA synonymous SNV ENSG00000008710:ENST00000262304:exon46:c.T12630C:p.P4210P,ENSG00000008710:ENST00000423118:exon46:c.T12627C:p.P4209P NA NA 16p13.3 NA NA Name=10 NA rs7203729 0.26 0.26 0.249 0.277955 0.2028 NA 0.2104 0.7247 0.0859 0.2 NA 0.23 0.69 0.2011 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 -1.074781 NA NA 0.189639 0.606865 NA 0.326 NA 6.0731276 1053 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$PAX5_02 NA NA NA rs2279665 0.48 0.48 0.531 0.469449 0.5497 0.2619 0.3141 0.6505 0.4663 0.55 0.3 0.38 0.65 0.4985 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.820825 NA NA 0.545349 0.640717 ID=COSM147549;OCCURENCE=1(stomach) 0.442 NA 6.0731176 1053 5 176733116 176733116 A G exonic PRELID1 NA synonymous SNV PRELID1:NM_001271828:exon4:c.A450G:p.R150R,PRELID1:NM_013237:exon4:c.A450G:p.R150R exonic ENSG00000169230 NA synonymous SNV ENSG00000169230:ENST00000303204:exon4:c.A450G:p.R150R,ENSG00000169230:ENST00000503216:exon4:c.A450G:p.R150R Score=613;Name=lod=413 NA 5q35.3 NA NA Name=9 NA rs4631 0.78 0.78 0.78 0.77496 0.8817 0.4901 0.7867 0.9334 0.7362 0.88 0.49 0.81 0.93 0.8263 0.93 . . . . . . . . 0.000 P . . . . -1.046 T 0.000 T . 0.204 5.101 1.13 -0.113 0.348 4.558 0.204248 NA NA 0.885814 0.931911 ID=COSM150020;OCCURENCE=1(stomach) 0.841 NA 6.0728526 1053 21 37507745 37507745 C T exonic CBR3 NA synonymous SNV CBR3:NM_001236:exon1:c.C255T:p.N85N exonic ENSG00000159231 NA synonymous SNV ENSG00000159231:ENST00000290354:exon1:c.C255T:p.N85N Score=554;Name=lod=238 NA 21q22.12 NA Name=ZNF263,SUZ12,E2F1,E2F6,Pol2 Name=12 NA rs881711 0.82 0.82 0.85 0.820288 0.8748 0.8403 0.7839 0.7564 0.8558 0.88 0.84 0.78 0.73 0.8388 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.024385 NA NA 0.880349 0.780754 NA 0.739 NA 6.0727176 1053 17 3916823 3916823 G A exonic ZZEF1 NA synonymous SNV ZZEF1:NM_015113:exon52:c.C8499T:p.G2833G exonic ENSG00000074755 NA synonymous SNV ENSG00000074755:ENST00000381638:exon52:c.C8499T:p.G2833G NA NA 17p13.2 Score=900;Name=V$SPZ1_01 NA NA NA rs8075562 0.21 0.21 0.229 0.201877 0.2048 0.0734 0.2061 0.3033 0.1912 0.23 0.07 0.22 0.34 0.1967 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.938005 NA NA 0.192907 0.259419 NA 0.239 NA 6.0722596 1053 5 115298518 115298518 A G exonic AQPEP NA synonymous SNV AQPEP:NM_173800:exon1:c.A204G:p.P68P exonic ENSG00000172901 NA synonymous SNV ENSG00000172901:ENST00000357872:exon1:c.A204G:p.P68P,ENSG00000172901:ENST00000504467:exon1:c.A204G:p.P68P NA NA 5q23.1 NA Name=CTCF Name=37 NA rs12522632 0.78 0.78 0.714 NA NA NA NA NA NA 0.77 0.72 0.81 0.83 0.7814 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 0.370717 NA NA 0.813792 0.839871 ID=COSM448465;OCCURENCE=1(breast) 0.616 NA 6.0714746 1053 17 7754993 7754993 G A exonic KDM6B NA synonymous SNV KDM6B:NM_001080424:exon17:c.G4044A:p.L1348L exonic ENSG00000132510 NA synonymous SNV ENSG00000132510:ENST00000254846:exon17:c.G4044A:p.L1348L,ENSG00000132510:ENST00000448097:exon17:c.G4044A:p.L1348L Score=674;Name=lod=731 NA 17p13.1 NA Name=Pol2,ZEB1_(SC-25388),Pol2-4H8,ELF1_(SC-631),TCF4,Sin3Ak-20,PU.1,GR NA NA rs12939056 0.27 0.27 0.274 0.187101 0.5785 0.002 0.2709 0.0129 0.1513 0.59 0.0017 0.34 0.03 0.4529 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.138385 NA NA 0.564249 0.11063 NA 0.319 NA 6.0710176 1053 7 141755358 141755358 T C exonic MGAM NA synonymous SNV MGAM:NM_004668:exon28:c.T3315C:p.I1105I exonic ENSG00000257335 NA synonymous SNV ENSG00000257335:ENST00000475668:exon28:c.T3315C:p.I1105I,ENSG00000257335:ENST00000549489:exon28:c.T3315C:p.I1105I Score=548;Name=lod=224 NA 7q34 NA NA NA NA rs67998329 0.23 0.23 0.214 0.231629 0.1958 0.1984 0.2522 0.2852 0.2157 0.19 0.22 0.26 0.28 0.2161 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.11488 NA NA 0.183829 0.230448 NA 0.261 NA 6.0709376 1053 4 169432673 169432673 C T exonic PALLD NA synonymous SNV PALLD:NM_001166108:exon2:c.C18T:p.S6S,PALLD:NM_016081:exon2:c.C18T:p.S6S exonic ENSG00000129116 NA synonymous SNV ENSG00000129116:ENST00000261509:exon2:c.C18T:p.S6S,ENSG00000129116:ENST00000505667:exon2:c.C18T:p.S6S,ENSG00000129116:ENST00000511948:exon3:c.C18T:p.S6S Score=385;Name=lod=49 NA 4q32.3 NA NA NA NA rs61051061 0.2 0.2 0.212 0.184904 0.1958 0.1925 0.1441 0.2292 0.135 0.2 0.18 0.16 0.25 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 -0.78508 NA NA 0.206395 0.234453 NA 0.217 NA 6.0701716 1053 15 63009804 63009804 C T exonic TLN2 NA synonymous SNV TLN2:NM_015059:exon21:c.C2793T:p.A931A exonic ENSG00000171914 NA synonymous SNV ENSG00000171914:ENST00000306829:exon21:c.C2793T:p.A931A,ENSG00000171914:ENST00000561311:exon23:c.C2793T:p.A931A Score=361;Name=lod=39 NA 15q22.2 Score=828;Name=V$HEN1_02 Name=GATA-2 NA NA rs1320191 0.77 0.77 0.708 0.739816 0.8767 0.9544 0.9135 0.3086 0.8374 0.88 0.94 0.91 0.31 0.8404 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 0.655314 NA NA 0.88021 0.416024 NA 0.754 NA 6.0693566 1053 14 50131846 50131846 G T exonic POLE2 NA synonymous SNV POLE2:NM_001197330:exon7:c.C534A:p.V178V,POLE2:NM_001197331:exon8:c.C612A:p.V204V,POLE2:NM_002692:exon8:c.C612A:p.V204V exonic ENSG00000100479 NA synonymous SNV ENSG00000100479:ENST00000539565:exon7:c.C534A:p.V178V,ENSG00000100479:ENST00000216367:exon8:c.C612A:p.V204V,ENSG00000100479:ENST00000554396:exon8:c.C612A:p.V204V Score=612;Name=lod=411 NA 14q21.3 NA NA NA NA rs3218791 0.21 0.21 0.222 0.207468 0.2127 0.0268 0.1657 0.4939 0.0307 0.2 0.05 0.2 0.42 0.1887 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.929116 NA NA 0.195971 0.438182 NA 0.159 NA 6.0692956 1053 9 136662928 136662928 A G exonic VAV2 NA synonymous SNV VAV2:NM_003371:exon9:c.T825C:p.L275L,VAV2:NM_001134398:exon10:c.T840C:p.L280L exonic ENSG00000160293 NA synonymous SNV ENSG00000160293:ENST00000371851:exon9:c.T825C:p.L275L,ENSG00000160293:ENST00000406606:exon9:c.T825C:p.L275L,ENSG00000160293:ENST00000371850:exon10:c.T840C:p.L280L Score=570;Name=lod=277 NA 9q34.2 NA NA NA NA rs7865299 0.22 0.22 0.217 0.260783 0.169 0.0863 0.2507 0.5129 0.2014 0.17 0.05 0.25 0.48 0.2253 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.471425 1.471425 NA 0.203256 0.45892 NA 0.297 NA 6.0691106 1053 11 130750642 130750642 A C exonic SNX19 NA nonsynonymous SNV SNX19:NM_014758:exon9:c.T2633G:p.L878R exonic ENSG00000120451 NA nonsynonymous SNV ENSG00000120451:ENST00000426933:exon2:c.T137G:p.L46R,ENSG00000120451:ENST00000534726:exon5:c.T353G:p.L118R,ENSG00000120451:ENST00000545537:exon6:c.T353G:p.L118R,ENSG00000120451:ENST00000265909:exon9:c.T2633G:p.L878R,ENSG00000120451:ENST00000528555:exon9:c.T773G:p.L258R,ENSG00000120451:ENST00000530356:exon10:c.T773G:p.L258R,ENSG00000120451:ENST00000539184:exon10:c.T962G:p.L321R NA NA 11q24.3 Score=716;Name=V$LUN1_01 NA NA NA rs2298566 0.78 0.78 0.749 0.8127 0.7356 0.6974 0.7767 0.944 0.8589 0.74 0.7 0.76 0.93 0.7802 0.93 1 T 0.0 B 0.0 B 0.021 N 1.000 P -1.845 N 1.63 T -0.999 T 0.000 T 0.137 -0.589 1.36 0.075 -0.476 -0.225 7.438 -0.588967 NA 1 0.749593 0.919355 NA 0.696 NA 6.0679404 1053 21 30257560 30257560 C G exonic N6AMT1 NA synonymous SNV N6AMT1:NM_013240:exon1:c.G108C:p.L36L,N6AMT1:NM_182749:exon1:c.G108C:p.L36L exonic ENSG00000156239 NA synonymous SNV ENSG00000156239:ENST00000303775:exon1:c.G108C:p.L36L,ENSG00000156239:ENST00000351429:exon1:c.G108C:p.L36L,ENSG00000156239:ENST00000460212:exon1:c.G108C:p.L36L Score=518;Name=lod=170 NA 21q21.3 NA Name=E2F6,E2F6_(H-50),Ini1,HDAC2_(SC-6296),TAF7_(SQ-8),USF1_(SC-8983),HA-E2F1,USF2,Pol2,Pol2(phosphoS2),USF-1,ATF3,GATA-1,BCLAF1_(M33-P5B11),HEY1,STAT1,ELF1_(SC-631),ETS1,Pol2-4H8,GABP,SP2_(SC-643),HMGN3,TAF1,STAT3,PAX5-C20,Mxi1_(bHLH),NRSF,FOSL1_(SC-183),SETDB1,Sin3Ak-20,eGFP-JunD,c-Myc,SP1,IRF1,Max,YY1_(C-20),ZNF263,GTF2F1_(RAP-74),STAT2,YY1,NANOG_(SC-33759),eGFP-NR4A1,ZBTB7A_(SC-34508),Pol2(b),CCNT2,TBP,Egr-1 Name=148 NA rs1997606 0.74 0.74 0.728 0.783147 0.8787 0.5317 0.7435 0.8139 0.9305 0.87 0.5 0.73 0.83 0.8395 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 0.329105 NA NA 0.880764 0.839927 NA 0.79 NA 6.0677026 1053 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 1053 2 141259283 141259283 G A exonic LRP1B NA synonymous SNV LRP1B:NM_018557:exon55:c.C8823T:p.D2941D exonic ENSG00000168702 NA synonymous SNV ENSG00000168702:ENST00000389484:exon55:c.C8823T:p.D2941D Score=622;Name=lod=448 NA 2q22.1 NA NA NA NA rs35296183 0.11 0.11 0.116 0.104433 0.1988 0.0188 0.1066 0.0401 0.181 0.22 0.02 0.12 0.06 0.1741 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.940667 NA NA 0.226395 0.064231 NA 0.087 NA 6.0673716 1053 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 1053 19 9019605 9019605 C G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon22:c.G37541C:p.S12514T exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon22:c.G37541C:p.S12514T NA NA 19p13.2 NA NA NA NA rs12981679 0.64 0.64 0.643 0.652756 0.7893 0.5208 0.5778 0.6135 0.7546 0.78 0.5 0.62 0.61 0.715 0.78 0 D 0.0 B 0.0 B . . . . . . 1.21 T -1.037 T 0.000 T 0.02 0.491 6.666 1.43 0.159 0.190 5.58 0.491434 NA NA 0.761824 0.665304 NA 0.681 NA 6.0672094 1053 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 1053 7 14217673 14217673 G A exonic DGKB NA synonymous SNV DGKB:NM_004080:exon23:c.C2229T:p.C743C,DGKB:NM_145695:exon23:c.C2229T:p.C743C exonic ENSG00000136267 NA synonymous SNV ENSG00000136267:ENST00000444700:exon22:c.C2172T:p.C724C,ENSG00000136267:ENST00000258767:exon23:c.C2229T:p.C743C,ENSG00000136267:ENST00000399322:exon23:c.C2229T:p.C743C,ENSG00000136267:ENST00000406247:exon23:c.C2229T:p.C743C,ENSG00000136267:ENST00000407950:exon23:c.C2205T:p.C735C,ENSG00000136267:ENST00000402815:exon24:c.C2226T:p.C742C,ENSG00000136267:ENST00000403951:exon24:c.C2229T:p.C743C Score=502;Name=lod=146 NA 7p21.2 NA NA NA NA rs6966154 0.29 0.29 0.29 0.290335 0.2078 0.2659 0.2003 0.5378 0.1299 0.22 0.28 0.21 0.48 0.2178 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011229 NA NA 0.174076 0.454545 NA 0.217 NA 6.0669906 1053 4 88732746 88732746 A G exonic IBSP NA nonsynonymous SNV IBSP:NM_004967:exon7:c.A638G:p.D213G exonic ENSG00000029559 NA nonsynonymous SNV ENSG00000029559:ENST00000226284:exon7:c.A638G:p.D213G NA NA 4q22.1 NA NA NA NA rs13144371 0.74 0.74 0.77 0.742013 0.7594 0.5942 0.7305 0.913 0.6534 0.74 0.59 0.76 0.91 0.741 0.91 0.72 T 0.0 B 0.0 B 0.042 N 1.000 P -2.25 N 3.16 T -1.031 T 0.000 T 0.015 -0.409 2.089 2.57 0.544 -0.543 3.596 -0.408831 NA 0.94 0.766279 0.891285 NA 0.855 NA 6.0666544 1053 6 31084048 31084048 A G exonic CDSN NA synonymous SNV CDSN:NM_001264:exon2:c.T1344C:p.C448C exonic ENSG00000204539 NA synonymous SNV ENSG00000204539:ENST00000376288:exon2:c.T1344C:p.C448C Score=352;Name=lod=36 NA 6p21.33 NA NA NA NA rs3094216 0.18 0.18 0.21 0.1877 0.1879 0.1637 0.1527 0.2065 0.2117 0.19 0.18 0.11 0.23 0.1878 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049566 NA NA 0.224535 0.226055 NA 0.21 NA 6.0664316 1053 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 1054 7 138602523 138602523 T C exonic KIAA1549 NA nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.A1849G:p.R617G,KIAA1549:NM_020910:exon2:c.A1849G:p.R617G exonic ENSG00000122778 NA nonsynonymous SNV ENSG00000122778:ENST00000242365:exon1:c.A1699G:p.R567G,ENSG00000122778:ENST00000422774:exon2:c.A1849G:p.R617G,ENSG00000122778:ENST00000440172:exon2:c.A1849G:p.R617G NA NA 7q34 NA NA NA NA rs2774962 0.46 0.46 0.476 0.499601 0.4175 0.2024 0.2867 0.944 0.4407 0.4 0.22 0.3 0.93 0.4581 0.93 0.41 T 0.0 B 0.0 B 0.421 N 1.000 P -0.345 N 1.93 T -1.023 T 0.000 T 0.037 -0.345 2.367 0.882 0.061 -0.204 3.422 -0.345193 NA 0.09 0.393161 0.850425 ID=COSM150399,COSM1448410;OCCURENCE=1(stomach),1(large_intestine) 0.442 NA 6.0645724 1054 11 18735947 18735947 T C exonic IGSF22 NA nonsynonymous SNV IGSF22:NM_173588:exon13:c.A1675G:p.M559V exonic ENSG00000179057 NA nonsynonymous SNV ENSG00000179057:ENST00000319338:exon13:c.A1675G:p.M559V,ENSG00000179057:ENST00000513874:exon13:c.A1675G:p.M559V NA NA 11p15.1 NA NA NA NA rs7125943 0.79 0.79 0.771 0.75619 0.7783 0.8125 0.7075 0.851 0.5818 0.77 0.81 0.73 0.85 0.7413 0.85 0.61 T 0.0 B 0.0 B 0.446 N 1.000 P -1.195 N 1.17 T -1.012 T 0.000 T 0.014 -2.461 0.003 -2.12 -0.897 -0.173 11.140 -2.461414 NA 1 0.749226 0.815929 NA 0.623 NA 6.0645074 1054 2 107450589 107450589 C T exonic ST6GAL2 NA synonymous SNV ST6GAL2:NM_001142351:exon3:c.G957A:p.A319A,ST6GAL2:NM_001142352:exon3:c.G957A:p.A319A,ST6GAL2:NM_032528:exon3:c.G957A:p.A319A exonic ENSG00000144057 NA synonymous SNV ENSG00000144057:ENST00000361686:exon3:c.G957A:p.A319A,ENSG00000144057:ENST00000409087:exon3:c.G957A:p.A319A,ENSG00000144057:ENST00000409382:exon3:c.G957A:p.A319A Score=520;Name=lod=173 NA 2q12.2 NA NA NA NA rs3796111 0.34 0.34 0.314 0.371206 0.1759 0.5694 0.2983 0.4138 0.362 0.17 0.55 0.27 0.39 0.2672 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.284985 1.284985 NA 0.160233 0.380617 NA 0.261 NA 6.0633336 1054 17 65739627 65739627 A G exonic NOL11 NA synonymous SNV NOL11:NM_015462:exon17:c.A1968G:p.A656A exonic ENSG00000130935 NA synonymous SNV ENSG00000130935:ENST00000535137:exon16:c.A1422G:p.A474A,ENSG00000130935:ENST00000253247:exon17:c.A1968G:p.A656A Score=579;Name=lod=302 NA 17q24.2 NA NA Name=2 NA rs10127 0.46 0.46 0.402 0.48742 0.5249 0.5069 0.6196 0.3623 0.5041 0.51 0.47 0.59 0.29 0.5316 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.17658 NA NA 0.547275 0.407626 NA 0.514 NA 6.0628916 1054 12 109605730 109605730 C T exonic ACACB NA synonymous SNV ACACB:NM_001093:exon3:c.C816T:p.A272A exonic ENSG00000076555 NA synonymous SNV ENSG00000076555:ENST00000377848:exon3:c.C816T:p.A272A,ENSG00000076555:ENST00000377854:exon3:c.C816T:p.A272A,ENSG00000076555:ENST00000544726:exon3:c.C210T:p.A70A,ENSG00000076555:ENST00000338432:exon4:c.C816T:p.A272A NA NA 12q24.11 Score=846;Name=V$PAX4_01 NA NA NA rs4766516 0.25 0.25 0.221 0.231629 0.1769 0.5099 0.2089 0.0424 0.273 0.18 0.53 0.25 0.05 0.228 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.637362 NA NA 0.198953 0.075352 NA 0.21 NA 6.0628136 1054 2 105889349 105889349 G A exonic TGFBRAP1 NA synonymous SNV TGFBRAP1:NM_001142621:exon10:c.C1935T:p.L645L,TGFBRAP1:NM_004257:exon10:c.C1935T:p.L645L exonic ENSG00000135966 NA synonymous SNV ENSG00000135966:ENST00000258449:exon9:c.C1935T:p.L645L,ENSG00000135966:ENST00000393359:exon10:c.C1935T:p.L645L Score=383;Name=lod=48 NA 2q12.1 NA NA NA NA rs11676273 0.14 0.14 0.109 0.116214 0.2207 0.0804 0.2219 0.0091 0.1155 0.23 0.07 0.23 0.02 0.1768 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.442276 NA NA 0.206744 0.04108 NA 0.116 NA 6.0624226 1054 2 220502367 220502367 A C exonic SLC4A3 NA nonsynonymous SNV SLC4A3:NM_005070:exon17:c.A2600C:p.D867A,SLC4A3:NM_201574:exon17:c.A2681C:p.D894A exonic ENSG00000114923 NA nonsynonymous SNV ENSG00000114923:ENST00000273063:exon17:c.A2681C:p.D894A,ENSG00000114923:ENST00000317151:exon17:c.A2600C:p.D867A,ENSG00000114923:ENST00000358055:exon17:c.A2600C:p.D867A,ENSG00000114923:ENST00000373760:exon17:c.A2600C:p.D867A,ENSG00000114923:ENST00000373762:exon17:c.A2681C:p.D894A NA NA 2q35 NA NA NA NA rs635311 0.72 0.72 0.674 0.677516 0.7624 0.8065 0.7925 0.466 0.6616 0.78 0.84 0.76 0.45 0.7442 0.84 0.18 T 0.0 B 0.0 B 0.000 N 1.000 P -0.66 N -1.12 T -0.924 T 0.000 T 0.093 1.121 9.57 -2.34 -0.231 0.627 2.111 1.120745 NA 0.17 0.764419 0.504312 NA 0.572 NA 6.0623144 1054 2 144194565 144194565 C T exonic ARHGAP15 NA synonymous SNV ARHGAP15:NM_018460:exon8:c.C657T:p.Y219Y exonic ENSG00000075884 NA synonymous SNV ENSG00000075884:ENST00000295095:exon8:c.C657T:p.Y219Y NA NA 2q22.3 Score=834;Name=V$TCF11MAFG_01 NA NA NA rs17230746 0.1 0.1 0.086 0.0920527 0.2058 0.003 0.0879 0.0325 0.1503 0.21 0.0035 0.11 0.02 0.1712 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107143 NA NA 0.227442 0.060145 NA 0.101 NA 6.0622246 1054 17 18137141 18137141 A G exonic LLGL1 NA nonsynonymous SNV LLGL1:NM_004140:exon5:c.A442G:p.S148G exonic ENSG00000131899 NA nonsynonymous SNV ENSG00000131899:ENST00000316843:exon5:c.A442G:p.S148G NA NA 17p11.2 NA NA NA NA rs2290505 0.76 0.76 0.727 0.782348 0.7614 0.6786 0.7493 0.848 0.8456 0.75 0.7 0.76 0.83 0.7588 0.84 0.51 T 0.0 B 0.0 B 0.003 N 1.000 P 0.13 N 3.49 T -1.076 T 0.000 T 0.054 -1.867 0.008 2.63 0.428 -0.023 7.052 -1.867144 NA 0.47 0.751047 0.837494 ID=COSM1563388;OCCURENCE=1(large_intestine) 0.732 NA 6.0620864 1054 15 69561518 69561518 G A exonic GLCE NA nonsynonymous SNV GLCE:NM_015554:exon5:c.G1789A:p.V597I exonic ENSG00000138604 NA nonsynonymous SNV ENSG00000138604:ENST00000559420:exon3:c.G1597A:p.V533I,ENSG00000138604:ENST00000261858:exon5:c.G1789A:p.V597I NA NA 15q23 NA NA NA NA rs3865014 0.7 0.7 0.643 0.667332 0.7674 0.7411 0.7853 0.4682 0.6738 0.76 0.74 0.77 0.48 0.7379 0.77 1 T 0.0 B 0.001 B 0.001 N 1.000 P -0.825 N 1.0 T -1.000 T 0.000 T 0.032 -2.805 0 -3.23 -0.873 0.192 8.599 -2.804556 NA 1 0.766403 0.491364 NA 0.616 NA 6.0616304 1054 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 1054 22 37453452 37453452 C T exonic KCTD17 NA synonymous SNV KCTD17:NM_024681:exon4:c.C426T:p.H142H exonic ENSG00000100379 NA synonymous SNV ENSG00000100379:ENST00000402077:exon4:c.C426T:p.H142H,ENSG00000100379:ENST00000403888:exon4:c.C426T:p.H142H Score=649;Name=lod=580 NA 22q12.3 Score=865;Name=V$NGFIC_01 NA NA NA rs710185 0.86 0.86 0.856 0.83766 0.8738 0.9931 0.9308 0.6293 0.8558 0.87 1 0.93 0.65 0.8661 1 . . . . . . . . 0.000 P . . . . -1.002 T 0.000 T . 0.797 8.194 0.46 0.299 -0.024 7.132 0.796557 NA NA 0.865349 0.67567 NA 0.87 NA 6.0614176 1054 11 44104981 44104981 C T exonic ACCS NA nonsynonymous SNV ACCS:NM_001127219:exon14:c.C1262T:p.P421L,ACCS:NM_032592:exon14:c.C1262T:p.P421L exonic ENSG00000110455 NA nonsynonymous SNV ENSG00000110455:ENST00000263776:exon14:c.C1262T:p.P421L NA NA 11p11.2 NA NA NA NA rs3107275 0.44 0.44 0.433 0.403754 0.4612 0.4692 0.304 0.4054 0.3456 0.48 0.49 0.3 0.44 0.3963 0.49 0.27 T 0.018 B 0.026 B 0.116 N 1.000 P 0.695 N 2.11 T -0.923 T 0.000 T 0.157 0.743 7.942 0.503 0.103 0.594 15.560 0.742991 NA 0.28 0.414419 0.416478 NA 0.435 NA 6.0614144 1054 20 61982124 61982124 A G exonic CHRNA4 NA synonymous SNV CHRNA4:NM_000744:exon5:c.T639C:p.D213D,CHRNA4:NM_001256573:exon5:c.T111C:p.D37D exonic ENSG00000101204 NA synonymous SNV ENSG00000101204:ENST00000370263:exon5:c.T639C:p.D213D Score=601;Name=lod=369 NA 20q13.33 Score=941;Name=V$TCF11_01 NA NA NA rs1044393 0.79 0.79 0.745 0.757188 0.8907 0.8998 0.8732 0.4766 0.7699 0.89 0.88 0.86 0.46 0.8353 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 0.754574 NA NA 0.879302 0.547662 NA 0.725 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116722.2;CLNDSDB=.;CLNDSDBID=. 6.0613646 1054 X 41587218 41587218 T C exonic GPR82 NA synonymous SNV GPR82:NM_080817:exon3:c.T939C:p.D313D exonic ENSG00000171657 NA synonymous SNV ENSG00000171657:ENST00000302548:exon3:c.T939C:p.D313D Score=554;Name=lod=239 NA Xp11.4 Score=916;Name=V$FOXD3_01 NA NA NA rs1023065 0.84 0.84 0.82114 NA NA NA NA NA NA 0.7 0.97 0.88 0.86 0.8342 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.554976 NA NA 0.771296 0.867363 NA 0.616 NA 6.0611706 1054 12 48888594 48888594 C T exonic C12orf54 NA nonsynonymous SNV C12orf54:NM_152319:exon8:c.C256T:p.P86S exonic ENSG00000177627 NA nonsynonymous SNV ENSG00000177627:ENST00000549398:exon3:c.C88T:p.P30S,ENSG00000177627:ENST00000548364:exon7:c.C256T:p.P86S,ENSG00000177627:ENST00000314014:exon8:c.C256T:p.P86S NA NA 12q13.11 NA NA NA NA rs11458 0.27 0.27 0.259 0.227037 0.4394 0.1478 0.2594 0.0371 0.3241 0.47 0.18 0.29 0.07 0.3718 0.47 0.57 T 0.06 B 0.028 B 0.246 N 1.000 P 0.205 N 0.09 T -0.913 T 0.000 T 0.125 1.475 10.88 1.73 0.236 0.025 6.309 1.475188 1.475188 0.85 0.461163 0.103041 NA 0.333 NA 6.0609704 1054 6 169637763 169637763 G C exonic THBS2 NA synonymous SNV THBS2:NM_003247:exon9:c.C1257G:p.S419S exonic ENSG00000186340 NA synonymous SNV ENSG00000186340:ENST00000366787:exon9:c.C1257G:p.S419S Score=425;Name=lod=71 NA 6q27 NA NA NA NA rs9766671 0.25 0.25 0.227 0.253594 0.1968 0.2679 0.2478 0.2526 0.3027 0.2 0.27 0.25 0.29 0.2231 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.261388 1.261388 NA 0.186163 0.242624 ID=COSM450928;OCCURENCE=1(breast) 0.225 NA 6.0606036 1054 1 32084904 32084904 C T exonic HCRTR1 NA synonymous SNV HCRTR1:NM_001525:exon3:c.C111T:p.R37R exonic ENSG00000121764 NA synonymous SNV ENSG00000121764:ENST00000373705:exon1:c.C111T:p.R37R,ENSG00000121764:ENST00000373706:exon1:c.C111T:p.R37R,ENSG00000121764:ENST00000403528:exon3:c.C111T:p.R37R Score=616;Name=lod=425 NA 1p35.2 Score=896;Name=V$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 1054 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 1054 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 1054 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 1054 11 62505764 62505764 C T exonic TTC9C NA synonymous SNV TTC9C:NM_173810:exon3:c.C426T:p.A142A exonic ENSG00000162222 NA synonymous SNV ENSG00000162222:ENST00000532276:exon2:c.C120T:p.A40A,ENSG00000162222:ENST00000316461:exon3:c.C426T:p.A142A,ENSG00000162222:ENST00000532583:exon4:c.C426T:p.A142A Score=544;Name=lod=216 NA 11q12.3 NA NA NA NA rs6675 0.15 0.15 0.144 0.13738 0.1938 0.0853 0.1542 0.0968 0.1759 0.2 0.09 0.19 0.13 0.1941 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.526329 1.526329 NA 0.220633 0.120572 NA 0.196 NA 6.0581336 1054 7 135329690 135329690 T C exonic NUP205 NA synonymous SNV NUP205:NM_015135:exon40:c.T5607C:p.A1869A exonic ENSG00000155561 NA synonymous SNV ENSG00000155561:ENST00000285968:exon40:c.T5607C:p.A1869A NA NA 7q33 NA Name=GATA-2 NA NA rs12540688 0.23 0.23 0.233 0.251198 0.1968 0.253 0.196 0.2428 0.3558 0.2 0.26 0.21 0.26 0.2249 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.3439 1.3439 NA 0.187442 0.242397 ID=COSM150396;OCCURENCE=1(stomach) 0.217 NA 6.0575246 1054 14 51224374 51224374 T G exonic NIN NA nonsynonymous SNV NIN:NM_020921:exon18:c.A3374C:p.Q1125P,NIN:NM_182944:exon18:c.A3374C:p.Q1125P,NIN:NM_182946:exon18:c.A3374C:p.Q1125P exonic ENSG00000100503 NA nonsynonymous SNV ENSG00000100503:ENST00000530997:exon16:c.A3374C:p.Q1125P,ENSG00000100503:ENST00000245441:exon18:c.A3374C:p.Q1125P,ENSG00000100503:ENST00000324330:exon18:c.A3374C:p.Q1125P,ENSG00000100503:ENST00000382041:exon18:c.A3374C:p.Q1125P,ENSG00000100503:ENST00000453196:exon18:c.A3374C:p.Q1125P,ENSG00000100503:ENST00000476352:exon18:c.A3374C:p.Q1125P NA NA 14q22.1 NA NA NA NA rs12882191 0.79 0.79 0.785 0.784944 0.7594 0.6954 0.853 0.9244 0.6667 0.74 0.7 0.86 0.91 0.7533 0.91 0.85 T 0.0 B 0.0 B 0.119 N 1.000 P -2.125 N 3.58 T -1.024 T 0.000 T 0.384 -3.043 0.001 4.07 0.851 0.518 3.893 -3.043377 NA 1 0.763605 0.893554 NA 0.775 NA 6.0570284 1054 5 140188383 140188383 T G exonic PCDHA4 NA synonymous SNV PCDHA4:NM_018907:exon1:c.T1611G:p.A537A,PCDHA4:NM_031500:exon1:c.T1611G:p.A537A exonic ENSG00000204967 NA synonymous SNV ENSG00000204967:ENST00000356878:exon1:c.T1611G:p.A537A,ENSG00000204967:ENST00000512229:exon1:c.T1611G:p.A537A,ENSG00000204967:ENST00000530339:exon1:c.T1611G:p.A537A Score=520;Name=lod=173 NA 5q31.3 Score=770;Name=V$ARNT_02 NA NA NA rs2337987 0.58 0.58 0.521 0.591254 0.5388 0.5317 0.6052 0.7194 0.5235 0.53 0.54 0.56 0.7 0.5445 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 -0.002976 NA NA 0.526983 0.701316 NA 0.428 NA 6.0563836 1054 1 97272456 97272456 A G exonic PTBP2 NA synonymous SNV PTBP2:NM_021190:exon11:c.A1113G:p.L371L exonic ENSG00000117569 NA synonymous SNV ENSG00000117569:ENST00000236228:exon11:c.A1113G:p.L371L,ENSG00000117569:ENST00000370197:exon11:c.A1128G:p.L376L,ENSG00000117569:ENST00000370198:exon11:c.A1128G:p.L376L,ENSG00000117569:ENST00000426398:exon11:c.A1113G:p.L371L,ENSG00000117569:ENST00000394184:exon12:c.A1161G:p.L387L Score=652;Name=lod=595 NA 1p21.3 NA NA NA NA rs6699932 0.27 0.27 0.285 0.277955 0.2117 0.2103 0.1499 0.5408 0.1513 0.23 0.2 0.15 0.52 0.2123 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.231772 NA NA 0.186512 0.497957 NA 0.268 NA 6.0561546 1054 10 115374670 115374670 A G exonic NRAP NA synonymous SNV NRAP:NM_006175:exon27:c.T3009C:p.D1003D,NRAP:NM_001261463:exon28:c.T3114C:p.D1038D,NRAP:NM_198060:exon28:c.T3114C:p.D1038D exonic ENSG00000197893 NA synonymous SNV ENSG00000197893:ENST00000360478:exon27:c.T3009C:p.D1003D,ENSG00000197893:ENST00000369360:exon27:c.T3033C:p.D1011D,ENSG00000197893:ENST00000359988:exon28:c.T3114C:p.D1038D,ENSG00000197893:ENST00000369358:exon28:c.T3138C:p.D1046D Score=485;Name=lod=125 NA 10q25.3 NA NA NA NA rs3121453 0.14 0.14 0.131 0.1248 0.2058 0.0218 0.1614 0.1293 0.1155 0.22 0.03 0.15 0.14 0.18 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.828214 NA NA 0.225 0.160917 NA 0.152 NA 6.0558666 1055 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 1055 17 80051183 80051183 A G exonic FASN NA synonymous SNV FASN:NM_004104:exon5:c.T567C:p.N189N exonic ENSG00000169710 NA synonymous SNV ENSG00000169710:ENST00000306749:exon5:c.T567C:p.N189N Score=378;Name=lod=46 NA 17q25.3 NA Name=Pol2,Pol2(b) NA NA rs2228309 0.39 0.39 0.399 0.391773 0.5139 0.1746 0.3674 0.4501 0.4284 0.52 0.18 0.4 0.42 0.5373 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.895092 NA NA 0.561741 0.502062 NA 0.37 NA 6.0537256 1055 14 91123575 91123575 T C exonic TTC7B NA synonymous SNV TTC7B:NM_001010854:exon11:c.A1284G:p.P428P exonic ENSG00000165914 NA synonymous SNV ENSG00000165914:ENST00000555005:exon5:c.A507G:p.P169P,ENSG00000165914:ENST00000328459:exon11:c.A1284G:p.P428P,ENSG00000165914:ENST00000357056:exon11:c.A1284G:p.P428P NA NA 14q32.11 NA NA NA NA rs3742660 0.89 0.89 0.88 0.891773 0.8588 0.9812 0.8545 0.8419 0.9274 0.86 0.97 0.85 0.87 0.8873 0.97 . . . . . . . . 0.000 P . . . . -1.066 T 0.000 T . -0.919 0.399 -10.7 -3.663 -3.998 3.998 -0.9194 NA NA 0.866977 0.851566 NA 0.804 NA 6.0535896 1055 4 69687987 69687987 C A splicing UGT2B10 NM_001144767:exon3:c.616-2C>A,NM_001075:exon3:c.868-2C>A NA NA splicing ENSG00000109181 ENST00000265403:exon3:c.868-2C>A,ENST00000458688:exon3:c.616-2C>A NA NA Score=405;Name=lod=59 NA 4q13.2 NA NA NA NA rs2942857 0.87 0.87 0.844 0.848842 0.998 0.9147 0.915 0.5582 0.9734 1 0.92 0.93 0.55 0.9517 1 . . . . . . . . 0.000 P . . . . . . . . . -0.745 0.83 2.55 0.126 4.543 6.802 -0.745497 NA NA 0.996977 0.628292 NA 0.783 NA 6.053323 1055 5 140181892 140181892 T C exonic PCDHA3 NA synonymous SNV PCDHA3:NM_018906:exon1:c.T1110C:p.A370A,PCDHA3:NM_031497:exon1:c.T1110C:p.A370A exonic ENSG00000255408 NA synonymous SNV ENSG00000255408:ENST00000522353:exon1:c.T1110C:p.A370A,ENSG00000255408:ENST00000532566:exon1:c.T1110C:p.A370A Score=389;Name=lod=51 NA 5q31.3 Score=729;Name=V$HOX13_01 NA NA NA rs3733707 0.59 0.59 0.595 0.601238 0.5388 0.5317 0.6052 0.7572 0.5235 0.54 0.54 0.56 0.74 0.5477 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.155512 NA NA 0.52814 0.731729 NA 0.594 NA 6.0520266 1055 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 1055 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 1055 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 1055 6 31138107 31138107 G A exonic POU5F1 NA synonymous SNV POU5F1:NM_002701:exon1:c.C291T:p.G97G exonic ENSG00000204531 NA synonymous SNV ENSG00000204531:ENST00000259915:exon1:c.C291T:p.G97G Score=243;Name=lod=13 NA 6p21.33 NA NA NA NA rs1062630 0.17 0.17 0.165 0.169129 0.2008 0.0377 0.1412 0.2678 0.1585 0.21 0.05 0.14 0.27 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 -0.075814 NA NA 0.231338 0.267704 ID=COSM451196;OCCURENCE=1(breast),1(large_intestine) 0.203 NA 6.0509286 1055 2 55883317 55883317 G T exonic PNPT1 NA synonymous SNV PNPT1:NM_033109:exon17:c.C1390A:p.R464R exonic ENSG00000138035 NA synonymous SNV ENSG00000138035:ENST00000415374:exon17:c.C1390A:p.R464R,ENSG00000138035:ENST00000447944:exon17:c.C1390A:p.R464R Score=634;Name=lod=504 NA 2p16.1 Score=889;Name=V$IK1_01 NA NA NA rs2627765 0.4 0.4 0.355 0.356629 0.5785 0.1429 0.4899 0.3185 0.3057 0.59 0.15 0.52 0.31 0.4805 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.757837 NA NA 0.557017 0.34975 NA 0.399 NA 6.0506496 1055 9 131196695 131196695 C T exonic CERCAM NA synonymous SNV CERCAM:NM_016174:exon11:c.C1338T:p.L446L exonic ENSG00000167123 NA synonymous SNV ENSG00000167123:ENST00000372838:exon11:c.C1338T:p.L446L,ENSG00000167123:ENST00000372842:exon12:c.C1104T:p.L368L NA NA 9q34.11 Score=888;Name=V$ELK1_02 NA NA NA rs7258 0.28 0.28 0.304 0.294728 0.2078 0.4087 0.183 0.3661 0.2495 0.22 0.39 0.16 0.35 0.2315 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160058 NA NA 0.17814 0.362914 NA 0.297 NA 6.0492266 1055 17 42288128 42288128 T G intronic UBTF NA NA NA ncRNA_intronic ENSG00000267394 NA NA NA NA NA 17q21.31 NA Name=Max,GATA-1,GABP,E2F6_(H-50),USF-1 Name=3 NA rs2526011 0.1 0.1 0.114 0.0908546 0.1123 0.0437 0.0591 0.1702 0.0327 0.11 0.03 0.08 0.17 0.0983 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.056567 NA NA 0.074129 0.108128 NA 0.13 NA 6.0486043 1055 5 140346468 140346468 T A exonic PCDHAC2 NA synonymous SNV PCDHAC2:NM_018899:exon1:c.T117A:p.P39P,PCDHAC2:NM_031883:exon1:c.T117A:p.P39P exonic ENSG00000243232 NA synonymous SNV ENSG00000243232:ENST00000289269:exon1:c.T117A:p.P39P Score=487;Name=lod=127 NA 5q31.3 NA NA Name=16 NA rs155364 0.59 0.59 0.557 0.582668 0.5209 0.6111 0.5994 0.7352 0.3988 0.52 0.61 0.52 0.72 0.5758 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.086431 NA NA 0.521406 0.715385 ID=COSM448835;OCCURENCE=1(breast) 0.341 NA 6.0485606 1055 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 1055 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 1055 19 57036678 57036678 G A exonic ZNF471 NA synonymous SNV ZNF471:NM_020813:exon5:c.G1242A:p.S414S exonic ENSG00000196263 NA synonymous SNV ENSG00000196263:ENST00000308031:exon5:c.G1242A:p.S414S NA NA 19q13.43 NA Name=SETDB1,ZNF274,KAP1 NA NA rs3752177 0.2 0.2 0.193 0.19349 0.2078 0.1766 0.1816 0.1793 0.2239 0.2 0.18 0.23 0.2 0.1952 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.891985 1.891985 NA 0.215698 0.206764 NA 0.174 NA 6.0479686 1055 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 1055 17 1578939 1578939 C T exonic PRPF8 NA synonymous SNV PRPF8:NM_006445:exon19:c.G2847A:p.P949P exonic ENSG00000174231 NA synonymous SNV ENSG00000174231:ENST00000577001:exon17:c.G2682A:p.P894P,ENSG00000174231:ENST00000572621:exon18:c.G2847A:p.P949P,ENSG00000174231:ENST00000304992:exon19:c.G2847A:p.P949P Score=563;Name=lod=259 NA 17p13.3 NA NA NA NA rs33965342 0.24 0.24 0.267 0.261581 0.1948 0.0893 0.1441 0.5893 0.1483 0.19 0.07 0.14 0.59 0.2129 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.269781 1.269781 NA 0.211628 0.505901 NA 0.283 NA 6.0473386 1055 9 136561367 136561367 G A exonic SARDH NA synonymous SNV SARDH:NM_001134707:exon14:c.C1785T:p.S595S,SARDH:NM_007101:exon14:c.C1785T:p.S595S exonic ENSG00000123453 NA synonymous SNV ENSG00000123453:ENST00000371868:exon2:c.C69T:p.S23S,ENSG00000123453:ENST00000422262:exon13:c.C1281T:p.S427S,ENSG00000123453:ENST00000371872:exon14:c.C1785T:p.S595S,ENSG00000123453:ENST00000427237:exon14:c.C1785T:p.S595S,ENSG00000123453:ENST00000439388:exon14:c.C1785T:p.S595S NA NA 9q34.2 Score=834;Name=V$TAL1BETAE47_01 NA NA NA rs2502740 0.22 0.22 0.215 NA NA NA NA NA NA 0.32 0.12 0.28 0.16 0.2784 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.220433 NA NA 0.34093 0.148888 ID=COSM455556;OCCURENCE=1(breast) 0.254 NA 6.0473366 1055 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 1055 10 102265815 102265815 A G exonic SEC31B NA synonymous SNV SEC31B:NM_015490:exon9:c.T1026C:p.H342H exonic ENSG00000075826 NA synonymous SNV ENSG00000075826:ENST00000469546:exon8:c.T1026C:p.H342H,ENSG00000075826:ENST00000370345:exon9:c.T1026C:p.H342H,ENSG00000075826:ENST00000451524:exon9:c.T1026C:p.H342H,ENSG00000075826:ENST00000462434:exon9:c.T1023C:p.H341H,ENSG00000075826:ENST00000370329:exon10:c.T1035C:p.H345H,ENSG00000075826:ENST00000535773:exon10:c.T555C:p.H185H Score=590;Name=lod=333 NA 10q24.31 NA NA NA NA rs2295773 0.18 0.18 0.171 0.185104 0.1909 0.1319 0.1844 0.1997 0.2147 0.21 0.16 0.2 0.14 0.2089 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.080629 NA NA 0.220116 0.194734 NA 0.094 NA 6.0467506 1055 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 1055 8 25364960 25364960 A G exonic CDCA2 NA synonymous SNV CDCA2:NM_152562:exon15:c.A2778G:p.T926T exonic ENSG00000184661 NA synonymous SNV ENSG00000184661:ENST00000380665:exon14:c.A2733G:p.T911T,ENSG00000184661:ENST00000330560:exon15:c.A2778G:p.T926T NA NA 8p21.2 NA NA Name=24 NA rs6990278 0.21 0.21 0.192 0.192492 0.2147 0.2351 0.1931 0.1687 0.1575 0.22 0.24 0.19 0.18 0.2046 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435452 NA NA 0.201047 0.174535 NA 0.101 NA 6.0463196 1055 11 11986061 11986061 T C exonic DKK3 NA nonsynonymous SNV DKK3:NM_001018057:exon7:c.A1003G:p.R335G,DKK3:NM_013253:exon8:c.A1003G:p.R335G,DKK3:NM_015881:exon8:c.A1003G:p.R335G exonic ENSG00000050165 NA nonsynonymous SNV ENSG00000050165:ENST00000450094:exon6:c.A919G:p.R307G,ENSG00000050165:ENST00000326932:exon8:c.A1003G:p.R335G,ENSG00000050165:ENST00000396505:exon8:c.A1003G:p.R335G,ENSG00000050165:ENST00000525493:exon8:c.A1045G:p.R349G NA NA 11p15.3 NA NA NA NA rs3206824 0.79 0.79 0.76 0.812101 0.7575 0.7907 0.8761 0.8154 0.8405 0.75 0.78 0.87 0.82 0.7781 0.87 0.42 T 0.0 B 0.0 B 0.086 N 1.000 P -0.69 N 2.29 T -1.001 T 0.000 T 0.029 -1.1 0.143 -2.65 -0.776 -0.292 7.030 -1.099641 NA 0.36 0.751747 0.810995 NA 0.609 NA 6.0459864 1055 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 1055 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 1055 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$PPARG_03 NA NA NA rs1135004 0.37 0.37 0.319 0.35004 0.5497 0.0982 0.5519 0.2352 0.4162 0.57 0.1 0.57 0.24 0.4918 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.126819 NA NA 0.579774 0.259644 NA 0.413 NA 6.0453926 1055 7 45015107 45015107 G A exonic MYO1G NA synonymous SNV MYO1G:NM_033054:exon4:c.C540T:p.H180H exonic ENSG00000136286 NA synonymous SNV ENSG00000136286:ENST00000258787:exon4:c.C540T:p.H180H,ENSG00000136286:ENST00000464434:exon4:c.C540T:p.H180H Score=555;Name=lod=241 NA 7p13 NA NA NA NA rs61738857 0.15 0.15 0.13 0.128794 0.2266 0.0962 0.1772 0.1006 0.0654 0.24 0.09 0.19 0.07 0.1833 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.883873 NA NA 0.211512 0.113482 NA 0.101 NA 6.0452546 1056 17 5991344 5991344 C T exonic WSCD1 NA synonymous SNV WSCD1:NM_015253:exon3:c.C462T:p.H154H exonic ENSG00000179314 NA synonymous SNV ENSG00000179314:ENST00000573634:exon2:c.C114T:p.H38H,ENSG00000179314:ENST00000317744:exon3:c.C462T:p.H154H,ENSG00000179314:ENST00000539421:exon3:c.C462T:p.H154H,ENSG00000179314:ENST00000574232:exon3:c.C462T:p.H154H,ENSG00000179314:ENST00000574946:exon3:c.C462T:p.H154H,ENSG00000179314:ENST00000576083:exon3:c.C462T:p.H154H Score=340;Name=lod=32 NA 17p13.2 Score=761;Name=V$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 1056 11 6898758 6898758 A C exonic OR10A4 NA synonymous SNV OR10A4:NM_207186:exon1:c.A880C:p.R294R exonic ENSG00000170782 NA synonymous SNV ENSG00000170782:ENST00000379829:exon1:c.A880C:p.R294R Score=526;Name=lod=183 NA 11p15.4 NA NA NA NA rs7102808 0.15 0.15 0.127 0.147165 0.1889 0.1419 0.2666 0.0333 0.1789 0.19 0.14 0.24 0.04 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 0.406264 NA NA 0.227886 0.062472 NA 0.167 NA 6.0446806 1056 10 102247526 102247526 G C exonic SEC31B NA synonymous SNV SEC31B:NM_015490:exon26:c.C3387G:p.L1129L exonic ENSG00000075826 NA synonymous SNV ENSG00000075826:ENST00000370345:exon26:c.C3387G:p.L1129L Score=497;Name=lod=139 NA 10q24.31 NA NA NA NA rs2298074 0.15 0.15 0.142 0.142372 0.1998 0.129 0.1772 0.0401 0.2106 0.22 0.15 0.19 0.02 0.1982 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.926707 NA NA 0.225581 0.059691 NA 0.072 NA 6.0430856 1056 5 149792337 149792337 C T UTR5 CD74 NM_001025158:c.-25G>A,NM_001025159:c.-25G>A,NM_004355:c.-25G>A NA NA UTR5 ENSG00000019582 ENST00000353334:c.-25G>A NA NA NA NA 5q32 NA Name=IRF4_(M-17),NFKB,RFX5_(N-494),TAF1,Pol2-4H8,GABP,MEF2A,BCL11A,ETS1,HEY1,Pbx3,Pol2,CHD2_(N-1250),POU2F2,TBP,Egr-1,PAX5-N19,PU.1,ZBTB33,TCF4,Oct-2,PAX5-C20,MEF2C_(SC-13268) Name=97 NA rs55796634 0.14 0.14 0.14 0.125399 0.0934 0.2272 0.0562 0.1339 0.091 0.1 0.24 0.06 0.13 0.0977 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349374 NA NA 0.099186 0.125965 ID=COSN167612;OCCURENCE=1(large_intestine) 0.072 NA 6.0430474 1056 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 1056 14 105407208 105407208 T C exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.A14580G:p.V4860V exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.A14580G:p.V4860V NA NA 14q32.33 NA Name=Rad21,CTCF_(SC-5916),CTCF_(C-20),CTCF Name=7 NA rs11851053 0.52 0.52 0.539 0.554912 0.5338 0.4107 0.5115 0.6437 0.636 0.53 0.39 0.55 0.66 0.5483 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 0.222539 NA NA 0.541677 0.672875 NA 0.601 NA 6.0428896 1056 15 22925851 22925851 C T exonic CYFIP1 NA synonymous SNV CYFIP1:NM_014608:exon2:c.C69T:p.P23P exonic ENSG00000068793 NA synonymous SNV ENSG00000068793:ENST00000313077:exon2:c.C69T:p.P23P,ENSG00000068793:ENST00000558430:exon2:c.C69T:p.P23P,ENSG00000068793:ENST00000561185:exon2:c.C69T:p.P23P,ENSG00000068793:ENST00000561274:exon2:c.C69T:p.P23P,ENSG00000068793:ENST00000560848:exon3:c.C69T:p.P23P NA NA 15q11.2 Score=768;Name=V$PAX5_01 NA NA NA rs4134802 0.18 0.18 0.217 0.176917 0.2207 0.003 0.1412 0.3427 0.1125 0.21 0.01 0.16 0.37 0.192 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.96301 NA NA 0.211628 0.330458 NA 0.217 NA 6.0423386 1056 7 155530954 155530954 T C exonic RBM33 NA synonymous SNV RBM33:NM_053043:exon11:c.T1594C:p.L532L exonic ENSG00000184863 NA synonymous SNV ENSG00000184863:ENST00000401878:exon11:c.T1594C:p.L532L NA NA 7q36.3 Score=796;Name=V$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 1056 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 1056 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 1056 16 31195279 31195279 C T exonic FUS NA synonymous SNV FUS:NM_001170634:exon4:c.C288T:p.Y96Y,FUS:NM_001170937:exon4:c.C291T:p.Y97Y,FUS:NM_004960:exon4:c.C291T:p.Y97Y exonic ENSG00000089280 NA synonymous SNV ENSG00000089280:ENST00000254108:exon4:c.C291T:p.Y97Y,ENSG00000089280:ENST00000380244:exon4:c.C288T:p.Y96Y,ENSG00000089280:ENST00000566605:exon4:c.C291T:p.Y97Y,ENSG00000089280:ENST00000568685:exon4:c.C291T:p.Y97Y Score=540;Name=lod=208 NA 16p11.2 NA NA Name=17 NA rs1052352 0.53 0.53 0.506 0.473842 0.5517 0.7431 0.5173 0.2315 0.4131 0.56 0.78 0.53 0.21 0.5186 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 1.306603 1.306603 NA 0.554884 0.269458 NA 0.319 NA 6.0414826 1056 1 158986477 158986477 G C exonic IFI16 NA nonsynonymous SNV IFI16:NM_005531:exon4:c.G536C:p.S179T exonic ENSG00000163565 NA nonsynonymous SNV ENSG00000163565:ENST00000474473:exon2:c.G62C:p.S21T,ENSG00000163565:ENST00000567661:exon2:c.G62C:p.S21T,ENSG00000163565:ENST00000448393:exon3:c.G536C:p.S179T,ENSG00000163565:ENST00000295809:exon4:c.G536C:p.S179T,ENSG00000163565:ENST00000340979:exon4:c.G536C:p.S179T,ENSG00000163565:ENST00000368131:exon4:c.G536C:p.S179T,ENSG00000163565:ENST00000368132:exon4:c.G536C:p.S179T,ENSG00000163565:ENST00000447473:exon5:c.G536C:p.S179T NA NA 1q23.1 NA NA NA NA rs866484 0.66 0.66 0.614 0.636182 0.7853 0.5933 0.8444 0.4123 0.682 0.79 0.66 0.84 0.34 0.7286 0.84 1 T 0.0 B 0.001 B . . 1.000 P -0.755 N 3.69 T -0.919 T 0.003 T 0.108 -2.176 0.005 0.384 -0.177 -2.761 4.615 -2.175702 NA 0.58 0.778023 0.462551 NA 0.558 NA 6.0414104 1056 17 1584324 1584324 A G exonic PRPF8 NA synonymous SNV PRPF8:NM_006445:exon7:c.T891C:p.N297N exonic ENSG00000174231 NA synonymous SNV ENSG00000174231:ENST00000577001:exon5:c.T726C:p.N242N,ENSG00000174231:ENST00000572621:exon6:c.T891C:p.N297N,ENSG00000174231:ENST00000304992:exon7:c.T891C:p.N297N Score=691;Name=lod=860 NA 17p13.3 NA NA NA NA rs7503397 0.25 0.25 0.275 0.272165 0.1948 0.0903 0.147 0.6324 0.1411 0.19 0.07 0.14 0.64 0.2174 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.015196 NA NA 0.21314 0.556514 NA 0.297 NA 6.0413266 1056 3 39184959 39184959 C T exonic CSRNP1 NA nonsynonymous SNV CSRNP1:NM_033027:exon5:c.G1357A:p.V453I exonic ENSG00000144655 NA nonsynonymous SNV ENSG00000144655:ENST00000273153:exon5:c.G1357A:p.V453I,ENSG00000144655:ENST00000514182:exon5:c.G1357A:p.V453I NA NA 3p22.2 NA Name=Pol2(b),Pol2-4H8 NA NA rs1274958 0.77 0.77 0.76 0.784545 0.7694 0.7669 0.7709 0.795 0.8139 0.77 0.76 0.75 0.79 0.7698 0.81 1 T 0.0 B 0.001 B 0.043 N 1.000 P -1.61 N 1.03 T -0.985 T 0.000 T 0.014 -1.504 0.017 0.7 0.068 -0.140 4.341 -1.504416 NA 1 0.753372 0.805039 NA 0.79 NA 6.0407614 1056 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 1056 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 1056 11 20101704 20101704 C T exonic NAV2 NA synonymous SNV NAV2:NM_001111019:exon15:c.C2466T:p.S822S,NAV2:NM_001111018:exon25:c.C5082T:p.S1694S,NAV2:NM_145117:exon25:c.C5274T:p.S1758S,NAV2:NM_182964:exon25:c.C5274T:p.S1758S,NAV2:NM_001244963:exon27:c.C5442T:p.S1814S exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000525322:exon13:c.C2421T:p.S807S,ENSG00000166833:ENST00000311043:exon14:c.C2466T:p.S822S,ENSG00000166833:ENST00000533917:exon15:c.C2466T:p.S822S,ENSG00000166833:ENST00000349880:exon25:c.C5274T:p.S1758S,ENSG00000166833:ENST00000360655:exon25:c.C5082T:p.S1694S,ENSG00000166833:ENST00000396085:exon25:c.C5274T:p.S1758S,ENSG00000166833:ENST00000396087:exon27:c.C5442T:p.S1814S,ENSG00000166833:ENST00000527559:exon28:c.C5229T:p.S1743S,ENSG00000166833:ENST00000540292:exon28:c.C5235T:p.S1745S Score=566;Name=lod=266 NA 11p15.1 NA Name=BATF,eGFP-JunD,PAX5-C20,EBF,Egr-1,GATA-2,HDAC2_(SC-6296),Pol2-4H8,GABP,EBF1_(C-8),ELF1_(SC-631),GATA-1 Name=3 NA rs1867114 0.91 0.91 0.913 0.90635 0.8787 0.9563 0.8847 0.885 0.9274 0.89 0.96 0.86 0.91 0.8881 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 1.848354 1.848354 NA 0.860465 0.865411 NA 0.877 NA 6.0394016 1056 4 144442611 144442611 T C exonic SMARCA5 NA synonymous SNV SMARCA5:NM_003601:exon3:c.T282C:p.Y94Y exonic ENSG00000153147 NA synonymous SNV ENSG00000153147:ENST00000283131:exon3:c.T282C:p.Y94Y Score=728;Name=lod=1209 NA 4q31.21 NA NA NA NA rs11100790 0.32 0.32 0.31 0.292133 0.2078 0.6052 0.2594 0.2247 0.1708 0.22 0.61 0.24 0.21 0.2275 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.04951 NA NA 0.192442 0.218566 NA 0.159 NA 6.0389246 1056 19 12541532 12541532 C A exonic ZNF443 NA nonsynonymous SNV ZNF443:NM_005815:exon4:c.G1454T:p.C485F exonic ENSG00000180855 NA nonsynonymous SNV ENSG00000180855:ENST00000301547:exon4:c.G1454T:p.C485F NA NA 19p13.2 NA NA NA NA rs10422063 0.65 0.65 0.613 0.650958 0.7753 0.4534 0.7291 0.6445 0.68 0.78 0.45 0.73 0.64 0.7314 0.79 1 T 0.0 B 0.0 B . . 1.000 P -2.62 N 3.26 T -1.007 T 0.000 T 0.151 -2.894 0.001 -1.46 -1.243 0.057 5.288 -2.894408 NA 1 0.78814 0.65554 NA 0.71 NA 6.0384934 1056 16 4432029 4432029 A C exonic VASN NA nonsynonymous SNV VASN:NM_138440:exon2:c.A1151C:p.E384A exonic ENSG00000168140 NA nonsynonymous SNV ENSG00000168140:ENST00000304735:exon2:c.A1151C:p.E384A Score=259;Name=lod=15 NA 16p13.3 NA NA NA NA rs3810818 0.75 0.75 0.736 0.686302 0.7763 0.7907 0.7363 0.6135 0.5491 0.77 0.83 0.77 0.59 0.74 0.83 0.7 T 0.0 B 0.001 B 0.963 N 0.559 P 0.895 L 0.48 T -0.955 T 0.000 T 0.073 -0.188 3.084 0.071 0.386 0.149 2.845 -0.188265 NA 0.71 0.77869 0.654059 ID=COSM435258;OCCURENCE=4(breast) 0.739 NA 6.0383434 1056 4 68780399 68780399 A G exonic TMPRSS11A NA synonymous SNV TMPRSS11A:NM_001114387:exon9:c.T1002C:p.D334D,TMPRSS11A:NM_182606:exon9:c.T1011C:p.D337D exonic ENSG00000187054 NA synonymous SNV ENSG00000187054:ENST00000513536:exon7:c.T903C:p.D301D,ENSG00000187054:ENST00000334830:exon9:c.T1011C:p.D337D,ENSG00000187054:ENST00000396188:exon9:c.T1002C:p.D334D,ENSG00000187054:ENST00000508048:exon9:c.T999C:p.D333D Score=444;Name=lod=85 NA 4q13.2 NA NA Name=4 NA rs1371932 0.51 0.51 0.506 0.484225 0.5268 0.6587 0.4323 0.3192 0.5204 0.54 0.66 0.45 0.33 0.5341 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 -0.960188 NA NA 0.567907 0.358375 NA 0.399 NA 6.0378596 1056 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 1056 16 3293922 3293922 A T exonic MEFV NA nonsynonymous SNV MEFV:NM_001198536:exon8:c.T1272A:p.D424E exonic ENSG00000103313 NA nonsynonymous SNV ENSG00000103313:ENST00000541159:exon8:c.T1272A:p.D424E NA NA 16p13.3 NA NA NA NA rs1231123 0.34 0.34 0.316 0.311302 0.4414 0.2808 0.3646 0.2784 0.2157 0.44 0.29 0.36 0.24 0.3949 0.46 . . . . . . . . 1.000 P 0 N 0.04 T -0.944 T 0.000 T 0.046 3.199 16.71 -1.4 -0.780 -0.068 1.615 3.199416 3.199416 NA 0.459767 0.299727 NA 0.319 NA 6.0372664 1056 19 1127720 1127720 G A exonic SBNO2 NA synonymous SNV SBNO2:NM_001100122:exon2:c.C153T:p.S51S,SBNO2:NM_014963:exon5:c.C324T:p.S108S exonic ENSG00000064932 NA synonymous SNV ENSG00000064932:ENST00000438103:exon2:c.C153T:p.S51S,ENSG00000064932:ENST00000361757:exon5:c.C324T:p.S108S,ENSG00000064932:ENST00000587024:exon5:c.C324T:p.S108S,ENSG00000064932:ENST00000587655:exon5:c.C324T:p.S108S,ENSG00000064932:ENST00000590176:exon5:c.C324T:p.S108S,ENSG00000064932:ENST00000590998:exon5:c.C324T:p.S108S Score=425;Name=lod=71 NA 19p13.3 NA NA NA NA rs2074916 0.17 0.17 0.146 0.174521 0.1958 0.1865 0.304 0.0136 0.2658 0.21 0.17 0.27 0.03 0.2233 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431563 NA NA 0.21047 0.045776 ID=COSM438532,COSM438533;OCCURENCE=1(breast) 0.188 NA 6.0370966 1056 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 1056 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$ELK1_01 NA Name=12 NA rs2245370 0.75 0.75 0.696 0.728035 0.5239 0.9335 0.6715 0.7519 0.7342 0.61 0.94 0.65 0.81 0.6168 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.086274 NA NA 0.490118 0.704717 NA 0.63 NA 6.0358486 1056 11 44080210 44080210 T C exonic ACCSL NA nonsynonymous SNV ACCSL:NM_001031854:exon13:c.T1585C:p.C529R exonic ENSG00000205126 NA nonsynonymous SNV ENSG00000205126:ENST00000378832:exon13:c.T1585C:p.C529R Score=417;Name=lod=66 NA 11p11.2 NA NA NA NA rs2074051 0.8 0.8 0.827 0.794329 0.7803 0.8433 0.5893 0.8964 0.7658 0.78 0.87 0.62 0.89 0.7549 0.89 1 T 0.0 B 0.0 B 0.000 N 0.141 P -3.295 N 3.87 T -0.973 T 0.000 T 0.129 -2.431 0.003 1.53 0.086 0.123 13.578 -2.430994 NA 1 0.762588 0.864267 NA 0.812 NA 6.0355454 1056 17 41891437 41891437 G A exonic MPP3 NA synonymous SNV MPP3:NM_001932:exon16:c.C1197T:p.H399H exonic ENSG00000161647 NA synonymous SNV ENSG00000161647:ENST00000398393:exon14:c.C1272T:p.H424H,ENSG00000161647:ENST00000398389:exon16:c.C1197T:p.H399H NA NA 17q21.31 NA Name=ELF1_(SC-631),STAT1,CTCF NA NA rs17742929 0.11 0.11 0.111 0.10643 0.2505 0.001 0.1239 0.025 0.1646 0.24 0.0035 0.16 0.01 0.1655 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.990627 NA NA 0.215627 0.044043 NA 0.138 NA 6.0350396 1057 3 194080696 194080696 G A exonic LRRC15 NA synonymous SNV LRRC15:NM_130830:exon2:c.C1077T:p.N359N,LRRC15:NM_001135057:exon3:c.C1095T:p.N365N exonic ENSG00000172061 NA synonymous SNV ENSG00000172061:ENST00000347624:exon2:c.C1077T:p.N359N,ENSG00000172061:ENST00000439944:exon2:c.C1095T:p.N365N,ENSG00000172061:ENST00000428839:exon3:c.C1095T:p.N365N NA NA 3q29 Score=722;Name=V$P53_01 NA NA NA rs9682541 0.14 0.14 0.147 0.116214 0.2107 0.0685 0.1052 0.093 0.1074 0.23 0.08 0.12 0.09 0.1869 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.230803 NA NA 0.23407 0.098048 NA 0.159 NA 6.0349966 1057 8 110412519 110412519 G A exonic PKHD1L1 NA synonymous SNV PKHD1L1:NM_177531:exon13:c.G1227A:p.K409K exonic ENSG00000205038 NA synonymous SNV ENSG00000205038:ENST00000378402:exon13:c.G1227A:p.K409K Score=612;Name=lod=410 NA 8q23.1 Score=847;Name=V$GATA1_03 NA NA NA rs1379369 0.55 0.55 0.535 0.598642 0.5239 0.3968 0.6556 0.6944 0.7137 0.51 0.42 0.63 0.69 0.5668 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911354 NA NA 0.541026 0.685545 NA 0.638 NA 6.0349406 1057 3 196460680 196460680 C T exonic PIGX NA synonymous SNV PIGX:NM_017861:exon6:c.C684T:p.T228T,PIGX:NM_001166304:exon7:c.C738T:p.T246T exonic ENSG00000163964 NA synonymous SNV ENSG00000163964:ENST00000314118:exon6:c.C561T:p.T187T,ENSG00000163964:ENST00000392391:exon6:c.C684T:p.T228T,ENSG00000163964:ENST00000296333:exon7:c.C738T:p.T246T,ENSG00000163964:ENST00000541663:exon8:c.C414T:p.T138T Score=259;Name=lod=15 NA 3q29 NA NA NA NA rs34830136 0.13 0.13 0.132 0.130192 0.2286 0.001 0.1599 0.1241 0.1493 0.21 NA 0.2 0.12 0.1792 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03299 NA NA 0.22407 0.161598 NA 0.13 NA 6.0347966 1057 2 48822381 48822381 G A exonic STON1 NA synonymous SNV STON1:NM_006873:exon4:c.G2148A:p.K716K,STON1:NM_001198595:exon5:c.G2148A:p.K716K exonic ENSG00000243244 NA synonymous SNV ENSG00000243244:ENST00000309835:exon3:c.G2148A:p.K716K,ENSG00000243244:ENST00000404752:exon4:c.G2148A:p.K716K,ENSG00000243244:ENST00000406226:exon5:c.G2148A:p.K716K Score=558;Name=lod=247 NA 2p16.3 Score=759;Name=V$HTF_01 NA NA NA rs2140551 0.5 0.5 0.463 0.485623 0.5577 0.5575 0.5749 0.2814 0.5501 0.54 0.54 0.62 0.3 0.5226 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.973439 NA NA 0.551628 0.318883 NA 0.652 NA 6.0347386 1057 14 75483812 75483812 T C exonic MLH3 NA synonymous SNV MLH3:NM_014381:exon12:c.A4263G:p.Q1421Q,MLH3:NM_001040108:exon13:c.A4335G:p.Q1445Q exonic ENSG00000119684 NA synonymous SNV ENSG00000119684:ENST00000554697:exon4:c.A348G:p.Q116Q,ENSG00000119684:ENST00000556257:exon7:c.A3801G:p.Q1267Q,ENSG00000119684:ENST00000238662:exon12:c.A4263G:p.Q1421Q,ENSG00000119684:ENST00000380968:exon12:c.A1149G:p.Q383Q,ENSG00000119684:ENST00000556740:exon12:c.A4335G:p.Q1445Q,ENSG00000119684:ENST00000355774:exon13:c.A4335G:p.Q1445Q NA NA 14q24.3 NA NA NA NA rs13712 0.6 0.6 0.575 0.580072 0.5388 0.8393 0.6657 0.4138 0.5194 0.53 0.81 0.62 0.44 0.5634 0.81 . . . . . . . . 1.000 P . . . . -1.019 T 0.000 T . -0.097 3.527 -2.02 -0.539 -0.843 5.359 -0.0965 NA NA 0.530349 0.446437 NA 0.543 NA 6.0341176 1057 1 245861571 245861571 C T exonic KIF26B NA synonymous SNV KIF26B:NM_018012:exon13:c.C5988T:p.D1996D exonic ENSG00000162849 NA synonymous SNV ENSG00000162849:ENST00000366518:exon10:c.C4845T:p.D1615D,ENSG00000162849:ENST00000407071:exon13:c.C5988T:p.D1996D Score=505;Name=lod=151 NA 1q44 Score=957;Name=V$ATF6_01 NA NA NA rs3205034 0.47 0.47 0.472 0.400359 0.5537 0.378 0.4481 0.3298 0.3272 0.55 0.41 0.48 0.38 0.4942 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.262108 1.262108 NA 0.584901 0.403103 NA 0.565 NA 6.0338656 1057 1 111061011 111061011 C A exonic KCNA10 NA synonymous SNV KCNA10:NM_005549:exon1:c.G399T:p.R133R exonic ENSG00000143105 NA synonymous SNV ENSG00000143105:ENST00000369771:exon1:c.G399T:p.R133R Score=667;Name=lod=688 NA 1p13.3 NA NA NA NA rs3748731 0.21 0.21 0.199 0.181909 0.1978 0.1736 0.2478 0.1868 0.1207 0.22 0.19 0.23 0.19 0.2117 0.24 NA NA 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 0.223721 0.189287 NA 0.174 NA 6.0334456 1057 8 6389889 6389889 C G exonic ANGPT2 NA synonymous SNV ANGPT2:NM_001118887:exon2:c.G408C:p.A136A,ANGPT2:NM_001147:exon2:c.G408C:p.A136A exonic ENSG00000091879 NA synonymous SNV ENSG00000091879:ENST00000325203:exon2:c.G408C:p.A136A,ENSG00000091879:ENST00000415216:exon2:c.G408C:p.A136A,ENSG00000091879:ENST00000523120:exon2:c.G408C:p.A136A NA NA 8p23.1 NA NA Name=6 NA rs6559167 NA NA NA 0.374401 0.3022 0.4464 0.2896 0.3154 0.5143 NA NA NA NA 0.3317 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.953322 NA NA NA NA NA 0.275 NA 6.0327666 1057 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 1057 11 8947283 8947283 G C exonic C11orf16 NA nonsynonymous SNV C11orf16:NM_020643:exon5:c.C931G:p.P311A exonic ENSG00000176029 NA nonsynonymous SNV ENSG00000176029:ENST00000326053:exon5:c.C931G:p.P311A,ENSG00000176029:ENST00000525780:exon5:c.C931G:p.P311A NA NA 11p15.4 NA NA NA NA rs3751066 0.58 0.58 0.56 0.530751 0.6044 0.7093 0.6787 0.2935 0.4867 0.6 0.75 0.62 0.31 0.5895 0.75 1 T 0.759 P 0.368 B 0.082 N 1.000 P 1.78 L 1.39 T -0.871 T 0.000 T 0.074 1.284 10.2 0.023 0.350 0.204 2.490 1.283644 1.283644 1 0.607775 0.347796 NA 0.5 NA 6.0316584 1057 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 1057 15 91825027 91825027 C T exonic SV2B NA synonymous SNV SV2B:NM_001167580:exon9:c.C990T:p.D330D,SV2B:NM_014848:exon11:c.C1443T:p.D481D exonic ENSG00000185518 NA synonymous SNV ENSG00000185518:ENST00000330276:exon9:c.C1443T:p.D481D,ENSG00000185518:ENST00000545111:exon9:c.C990T:p.D330D,ENSG00000185518:ENST00000394232:exon10:c.C1443T:p.D481D,ENSG00000185518:ENST00000557410:exon11:c.C1443T:p.D481D Score=557;Name=lod=244 NA 15q26.1 NA NA NA NA rs1117388 0.31 0.31 0.354 0.333067 0.2117 0.1419 0.1758 0.7617 0.1871 0.21 0.13 0.19 0.75 0.2276 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 0.946849 NA NA 0.196603 0.669245 NA 0.377 NA 6.0307636 1057 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 1057 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 1057 11 20101744 20101744 C A exonic NAV2 NA synonymous SNV NAV2:NM_001111019:exon15:c.C2506A:p.R836R,NAV2:NM_001111018:exon25:c.C5122A:p.R1708R,NAV2:NM_145117:exon25:c.C5314A:p.R1772R,NAV2:NM_182964:exon25:c.C5314A:p.R1772R,NAV2:NM_001244963:exon27:c.C5482A:p.R1828R exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000311043:exon14:c.C2506A:p.R836R,ENSG00000166833:ENST00000533917:exon15:c.C2506A:p.R836R,ENSG00000166833:ENST00000349880:exon25:c.C5314A:p.R1772R,ENSG00000166833:ENST00000360655:exon25:c.C5122A:p.R1708R,ENSG00000166833:ENST00000396085:exon25:c.C5314A:p.R1772R,ENSG00000166833:ENST00000396087:exon27:c.C5482A:p.R1828R,ENSG00000166833:ENST00000527559:exon28:c.C5269A:p.R1757R,ENSG00000166833:ENST00000540292:exon28:c.C5275A:p.R1759R Score=546;Name=lod=220 NA 11p15.1 NA Name=GATA-1,ELF1_(SC-631),EBF1_(C-8),Pol2-4H8,GABP,HDAC2_(SC-6296),GATA2_(CG2-96),GATA-2,EBF,Egr-1,PAX5-C20,NRSF,eGFP-JunD,BATF Name=3 NA rs1867115 0.92 0.92 0.938 0.931709 0.8797 0.9583 0.889 0.9607 0.9489 0.89 0.96 0.87 0.96 0.897 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 1.448943 1.448943 NA 0.86093 0.940536 NA 0.884 NA 6.0290366 1057 12 53164848 53164848 G A exonic KRT76 NA synonymous SNV KRT76:NM_015848:exon7:c.C1419T:p.N473N exonic ENSG00000185069 NA synonymous SNV ENSG00000185069:ENST00000332411:exon7:c.C1419T:p.N473N Score=645;Name=lod=555 NA 12q13.13 Score=680;Name=V$PPARG_02 NA NA NA rs7313832 0.46 0.46 0.43 0.417133 0.5855 0.3919 0.3991 0.3555 0.3661 0.61 0.4 0.43 0.32 0.4955 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.872259 NA NA 0.556977 0.36995 ID=COSM1179680;OCCURENCE=1(prostate) 0.551 NA 6.0286896 1057 20 18414356 18414356 A G exonic DZANK1 NA synonymous SNV DZANK1:NM_001099407:exon9:c.T801C:p.C267C exonic ENSG00000089091 NA synonymous SNV ENSG00000089091:ENST00000377630:exon8:c.T282C:p.C94C,ENSG00000089091:ENST00000262547:exon9:c.T801C:p.C267C,ENSG00000089091:ENST00000329494:exon10:c.T807C:p.C269C,ENSG00000089091:ENST00000357236:exon10:c.T459C:p.C153C Score=397;Name=lod=55 NA 20p11.23 Score=1000;Name=V$AML1_01 NA NA NA rs6035042 0.73 0.73 0.801 0.831669 0.8897 0.8452 0.8228 0.6815 0.9673 0.77 0.79 0.77 0.58 0.8636 0.89 . . . . . . . . 0.000 P . . . . -1.022 T 0.000 T . -0.743 0.836 0.122 -0.501 0.731 10.166 -0.743449 NA NA 0.885048 0.740179 NA 0.826 NA 6.0283186 1057 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 1057 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_(SC-101058),FOXA1_(C-20),FOXA2_(SC-6554) 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 1057 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 1057 9 107456933 107456933 C T exonic OR13D1 NA synonymous SNV OR13D1:NM_001004484:exon1:c.C231T:p.L77L exonic ENSG00000179055 NA synonymous SNV ENSG00000179055:ENST00000318763:exon1:c.C231T:p.L77L NA NA 9q31.1 Score=882;Name=V$OCT1_03 NA NA NA rs12347076 0.27 0.27 0.265 0.270367 0.1909 0.4821 0.183 0.1657 0.3374 0.19 0.48 0.23 0.16 0.2378 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072 NA NA 0.212093 0.179074 NA 0.246 NA 6.0258736 1057 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 1057 11 396915 396915 C T exonic PKP3 NA synonymous SNV PKP3:NM_007183:exon3:c.C414T:p.N138N exonic ENSG00000184363 NA synonymous SNV ENSG00000184363:ENST00000331563:exon3:c.C414T:p.N138N,ENSG00000184363:ENST00000531857:exon4:c.C240T:p.N80N Score=325;Name=lod=28 NA 11p15.5 NA NA Name=65 NA rs12419281 0.43 0.43 0.387 0.446885 0.5467 0.4296 0.4784 0.2912 0.5501 0.53 0.4 0.46 0.26 0.5476 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22237 NA NA 0.546703 0.339136 NA 0.406 NA 6.0256636 1057 6 4735071 4735071 C G intergenic ECI2,CDYL dist=599240;dist=41609 NA NA exonic ENSG00000153046 NA nonsynonymous SNV ENSG00000153046:ENST00000328908:exon3:c.C179G:p.A60G NA NA 6p25.1 NA NA NA NA rs28360500 0.29 0.29 0.256 0.264776 0.2734 0.2937 0.3285 0.2791 0.1616 0.26 0.27 0.33 0.32 0.2696 0.33 0.4 T 0.039 B 0.023 B . . 1.000 P . . 0.93 T -1.002 T 0.018 T 0.052 -1.996 0.007 -1.85 -1.574 -0.774 3.192 -1.995926 NA 0.45 0.264884 0.299138 ID=COSM319395;OCCURENCE=1(lung) 0.355 NA 6.0254494 1058 15 99670161 99670161 C T exonic SYNM NA unknown UNKNOWN exonic ENSG00000182253 NA synonymous SNV ENSG00000182253:ENST00000560674:exon4:c.C738T:p.S246S,ENSG00000182253:ENST00000328642:exon5:c.C1593T:p.S531S,ENSG00000182253:ENST00000336292:exon5:c.C1593T:p.S531S NA NA 15q26.3 NA Name=PU.1 NA NA rs3134586 0.13 0.13 0.13 0.13119 0.1083 0.2728 0.0634 0.0477 0.1697 0.1 0.3 0.08 0.04 0.1138 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.726093 NA NA 0.086777 0.051931 NA 0.094 NA 6.0244563 1058 9 114490229 114490229 T G exonic C9orf84 NA synonymous SNV C9orf84:NM_001080551:exon9:c.A1209C:p.A403A,C9orf84:NM_173521:exon11:c.A1326C:p.A442A exonic ENSG00000165181 NA synonymous SNV ENSG00000165181:ENST00000394777:exon9:c.A1209C:p.A403A,ENSG00000165181:ENST00000394779:exon9:c.A1209C:p.A403A,ENSG00000165181:ENST00000318737:exon11:c.A1326C:p.A442A,ENSG00000165181:ENST00000374287:exon13:c.A1326C:p.A442A Score=243;Name=lod=13 NA 9q31.3 NA NA NA NA rs10512411 0.15 0.15 0.137 0.14357 0.2286 0.0278 0.196 0.1422 0.1401 0.23 0.03 0.19 0.15 0.1832 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.98725 NA NA 0.231736 0.17416 NA 0.196 NA 6.0231306 1058 1 183486859 183486859 G A exonic SMG7 NA synonymous SNV SMG7:NM_001174061:exon3:c.G90A:p.L30L,SMG7:NM_173156:exon4:c.G216A:p.L72L,SMG7:NM_201568:exon4:c.G216A:p.L72L,SMG7:NM_201569:exon4:c.G216A:p.L72L exonic ENSG00000116698 NA synonymous SNV ENSG00000116698:ENST00000419169:exon3:c.G90A:p.L30L,ENSG00000116698:ENST00000508461:exon3:c.G90A:p.L30L,ENSG00000116698:ENST00000347615:exon4:c.G216A:p.L72L,ENSG00000116698:ENST00000440812:exon4:c.G216A:p.L72L,ENSG00000116698:ENST00000456731:exon4:c.G90A:p.L30L,ENSG00000116698:ENST00000507469:exon4:c.G216A:p.L72L,ENSG00000116698:ENST00000515829:exon4:c.G216A:p.L72L,ENSG00000116698:ENST00000367537:exon5:c.G303A:p.L101L Score=738;Name=lod=1333 NA 1q25.3 Score=847;Name=V$MRF2_01 NA Name=10 NA rs789169 0.94 0.94 0.937 0.941893 0.8698 0.998 0.9135 0.9584 0.956 0.88 1 0.91 0.97 0.9037 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.109354 NA NA 0.870116 0.948706 NA 0.942 NA 6.0230506 1058 12 86268179 86268179 A G UTR5 NTS NM_006183:c.-3A>G NA NA UTR5 ENSG00000133636 ENST00000551529:c.-3A>G,ENST00000256010:c.-3A>G NA NA NA NA 12q21.31 NA Name=KAP1,CTCF,Pol2,PU.1,NRSF Name=21 NA rs1800832 0.06 0.06 0.062 0.0471246 0.1213 NA 0.0778 0.0144 0.0419 0.11 NA 0.06 0.03 0.0822 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 1.541322 1.541322 NA 0.107326 0.026782 NA 0.123 NA 6.0225074 1058 15 40226495 40226495 T C exonic EIF2AK4 NA synonymous SNV EIF2AK4:NM_001013703:exon1:c.T99C:p.I33I exonic ENSG00000128829 NA synonymous SNV ENSG00000128829:ENST00000263791:exon1:c.T99C:p.I33I,ENSG00000128829:ENST00000382727:exon1:c.T99C:p.I33I,ENSG00000128829:ENST00000559624:exon1:c.T99C:p.I33I,ENSG00000128829:ENST00000560648:exon1:c.T99C:p.I33I Score=534;Name=lod=197 NA 15q15.1 NA Name=Sin3Ak-20,YY1_(C-20),AP-2gamma,Pol2,HEY1,ETS1,EBF1_(C-8),HMGN3,TAF1 Name=24 NA rs566792 0.94 0.94 0.937 0.960064 0.8688 1 0.9222 0.9939 0.9939 0.88 1 0.9 0.99 0.9112 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.320144 2.320144 NA 0.864456 0.972559 NA 0.877 NA 6.0222106 1058 15 90897952 90897952 C T exonic ZNF774 NA synonymous SNV ZNF774:NM_001004309:exon2:c.C60T:p.L20L exonic ENSG00000196391 NA synonymous SNV ENSG00000196391:ENST00000558586:exon1:c.C60T:p.L20L,ENSG00000196391:ENST00000354377:exon2:c.C60T:p.L20L,ENSG00000196391:ENST00000379090:exon2:c.C60T:p.L20L,ENSG00000196391:ENST00000560038:exon2:c.C60T:p.L20L Score=407;Name=lod=60 NA 15q26.1 NA NA NA NA rs8023776 0.3 0.3 0.319 0.316494 0.1928 0.3472 0.196 0.4599 0.3037 0.2 0.36 0.2 0.46 0.2591 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.080897 NA NA 0.193113 0.388131 NA 0.348 NA 6.0216536 1058 7 2969680 2969680 G A exonic CARD11 NA synonymous SNV CARD11:NM_032415:exon12:c.C1599T:p.D533D exonic ENSG00000198286 NA synonymous SNV ENSG00000198286:ENST00000355508:exon1:c.C15T:p.D5D,ENSG00000198286:ENST00000396946:exon12:c.C1599T:p.D533D NA NA 7p22.2 Score=809;Name=V$TAXCREB_01 NA NA NA rs1621509 0.12 0.12 0.094 0.102037 0.2366 0.0129 0.1787 0.0378 0.0879 0.22 0.01 0.2 0.04 0.1879 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.324595 NA NA 0.220698 0.075352 NA 0.145 NA 6.0214686 1058 X 16168467 16168467 T C exonic GRPR NA synonymous SNV GRPR:NM_005314:exon2:c.T453C:p.S151S exonic ENSG00000126010 NA synonymous SNV ENSG00000126010:ENST00000380289:exon2:c.T453C:p.S151S Score=482;Name=lod=121 NA Xp22.2 NA NA NA NA rs4986945 0.27 0.27 0.28219 NA NA NA NA NA NA 0.34 0.14 0.3 0.3 0.3003 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.27423 1.27423 NA 0.344976 0.334289 NA 0.21 NA 6.0213906 1058 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 1058 7 43810764 43810764 G A exonic BLVRA NA nonsynonymous SNV BLVRA:NM_000712:exon2:c.G7A:p.A3T,BLVRA:NM_001253823:exon3:c.G7A:p.A3T exonic ENSG00000106605 NA nonsynonymous SNV ENSG00000106605:ENST00000265523:exon2:c.G7A:p.A3T,ENSG00000106605:ENST00000424330:exon2:c.G7A:p.A3T,ENSG00000106605:ENST00000402924:exon3:c.G7A:p.A3T NA NA 7p13 NA Name=GATA-1 NA NA rs699512 0.79 0.79 0.79 0.821086 0.7465 0.6825 0.8487 0.9576 0.8364 0.75 0.68 0.84 0.96 0.8011 0.96 1 T 0.0 B 0.0 B 0.781 N 1.000 P 0.41 N 1.92 T -0.956 T 0.000 T 0.282 -2.022 0.006 1.38 0.068 -0.547 7.604 -2.021544 NA 0.62 0.765 0.927372 NA 0.855 NA 6.0207334 1058 11 587425 587425 C A exonic PHRF1 NA synonymous SNV PHRF1:NM_020901:exon4:c.C381A:p.A127A exonic ENSG00000070047 NA synonymous SNV ENSG00000070047:ENST00000264555:exon4:c.C381A:p.A127A,ENSG00000070047:ENST00000413872:exon4:c.C378A:p.A126A,ENSG00000070047:ENST00000416188:exon4:c.C381A:p.A127A,ENSG00000070047:ENST00000533464:exon4:c.C369A:p.A123A,ENSG00000070047:ENST00000534320:exon4:c.C381A:p.A127A Score=554;Name=lod=237 NA 11p15.5 NA NA NA NA rs12800061 0.18 0.18 0.19 0.164137 0.2147 0.0198 0.245 0.2504 0.0869 0.21 0.01 0.26 0.28 0.1924 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.47306 NA NA 0.238929 0.254028 NA 0.188 NA 6.0206376 1058 7 43664280 43664280 A G exonic STK17A NA nonsynonymous SNV STK17A:NM_004760:exon7:c.A1084G:p.K362E exonic ENSG00000164543 NA nonsynonymous SNV ENSG00000164543:ENST00000319357:exon7:c.A1084G:p.K362E NA NA 7p13 NA NA NA NA rs1044141 0.79 0.79 0.791 0.820887 0.7465 0.6746 0.8516 0.9622 0.8354 0.75 0.68 0.84 0.96 0.8014 0.96 1 T 0.0 B 0.0 B 0.000 N 0.998 P -0.975 N -0.17 T -0.940 T 0.000 T 0.027 -1.884 0.008 1.04 -0.362 1.079 9.630 -1.88396 NA 1 0.765116 0.930776 NA 0.855 NA 6.0203174 1058 16 57996960 57996960 C T exonic CNGB1 NA nonsynonymous SNV CNGB1:NM_001135639:exon5:c.G299A:p.R100H,CNGB1:NM_001297:exon5:c.G299A:p.R100H exonic ENSG00000070729 NA nonsynonymous SNV ENSG00000070729:ENST00000562761:exon4:c.G299A:p.R100H,ENSG00000070729:ENST00000251102:exon5:c.G299A:p.R100H,ENSG00000070729:ENST00000311183:exon5:c.G299A:p.R100H,ENSG00000070729:ENST00000564448:exon5:c.G299A:p.R100H NA NA 16q21 NA NA NA NA rs13336595 0.77 0.77 0.744 0.751997 0.7644 0.8214 0.8487 0.68 0.6963 0.77 0.84 0.85 0.64 0.7755 0.85 0.24 T 0.991 D 0.396 B . . 1.000 P 0.69 N 0.92 T -0.904 T 0.000 T 0.221 0.675 7.61 1.88 0.236 0.080 5.543 0.674537 NA 0.22 0.773235 0.718151 NA 0.79 NA 6.0201984 1058 17 42398052 42398052 A G exonic SLC25A39 NA nonsynonymous SNV SLC25A39:NM_001143780:exon9:c.T739C:p.F247L,SLC25A39:NM_016016:exon9:c.T715C:p.F239L exonic ENSG00000013306 NA nonsynonymous SNV ENSG00000013306:ENST00000586016:exon5:c.T343C:p.F115L,ENSG00000013306:ENST00000588767:exon5:c.T460C:p.F154L,ENSG00000013306:ENST00000537904:exon8:c.T670C:p.F224L,ENSG00000013306:ENST00000225308:exon9:c.T715C:p.F239L,ENSG00000013306:ENST00000377095:exon9:c.T739C:p.F247L,ENSG00000013306:ENST00000590194:exon9:c.T715C:p.F239L NA NA 17q21.31 NA NA NA NA rs2011951 0.65 0.65 0.628 0.68111 0.4036 0.9266 0.5764 0.7791 0.6554 0.41 0.92 0.57 0.77 0.5225 0.92 0.74 T 0.0 B 0.0 B 0.020 N 1.000 P 0 N -1.1 T -0.971 T 0.000 T 0.029 -0.415 2.061 0.7 0.094 0.161 5.669 -0.415327 NA 0.66 0.387326 0.731502 NA 0.565 NA 6.0199074 1058 X 130410965 130410965 A G exonic IGSF1 NA synonymous SNV IGSF1:NM_001170962:exon13:c.T2529C:p.Y843Y,IGSF1:NM_001170961:exon14:c.T2571C:p.Y857Y,IGSF1:NM_001555:exon14:c.T2556C:p.Y852Y exonic ENSG00000147255 NA synonymous SNV ENSG00000147255:ENST00000370910:exon13:c.T2529C:p.Y843Y,ENSG00000147255:ENST00000361420:exon14:c.T2556C:p.Y852Y,ENSG00000147255:ENST00000370903:exon14:c.T2571C:p.Y857Y,ENSG00000147255:ENST00000370904:exon20:c.T2529C:p.Y843Y Score=420;Name=lod=68 NA Xq26.2 NA NA NA NA rs4830219 0.27 0.27 0.2655 NA NA NA NA NA NA 0.34 NA 0.34 0.42 0.2999 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.744227 NA NA 0.347206 0.436767 ID=COSM1465651;OCCURENCE=1(large_intestine) 0.261 NA 6.0195606 1058 1 32196647 32196647 C G exonic BAI2 NA synonymous SNV BAI2:NM_001703:exon29:c.G4134C:p.P1378P exonic ENSG00000121753 NA synonymous SNV ENSG00000121753:ENST00000440175:exon23:c.G2961C:p.P987P,ENSG00000121753:ENST00000398542:exon25:c.G3834C:p.P1278P,ENSG00000121753:ENST00000398556:exon25:c.G3879C:p.P1293P,ENSG00000121753:ENST00000398538:exon26:c.G4098C:p.P1366P,ENSG00000121753:ENST00000398547:exon26:c.G3933C:p.P1311P,ENSG00000121753:ENST00000527361:exon26:c.G4035C:p.P1345P,ENSG00000121753:ENST00000257070:exon28:c.G4035C:p.P1345P,ENSG00000121753:ENST00000373655:exon29:c.G4134C:p.P1378P,ENSG00000121753:ENST00000373658:exon29:c.G4134C:p.P1378P NA NA 1p35.2 Score=789;Name=V$PAX5_01 NA NA NA rs909001 0.31 0.31 0.274 0.385383 0.159 0.2331 0.2594 0.7579 0.3609 0.16 0.18 0.26 0.75 0.328 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 -1.277775 NA NA 0.160471 0.57765 NA 0.362 NA 6.0191956 1058 7 56136194 56136194 C T exonic SUMF2 NA synonymous SNV SUMF2:NM_001042469:exon2:c.C144T:p.S48S,SUMF2:NM_001042470:exon2:c.C144T:p.S48S,SUMF2:NM_001130069:exon2:c.C144T:p.S48S,SUMF2:NM_015411:exon2:c.C144T:p.S48S exonic ENSG00000129103 NA synonymous SNV ENSG00000129103:ENST00000342190:exon2:c.C144T:p.S48S,ENSG00000129103:ENST00000395435:exon2:c.C144T:p.S48S,ENSG00000129103:ENST00000395436:exon2:c.C144T:p.S48S,ENSG00000129103:ENST00000413756:exon2:c.C87T:p.S29S,ENSG00000129103:ENST00000413952:exon2:c.C144T:p.S48S,ENSG00000129103:ENST00000423763:exon2:c.C87T:p.S29S,ENSG00000129103:ENST00000434526:exon2:c.C144T:p.S48S,ENSG00000129103:ENST00000436782:exon2:c.C87T:p.S29S,ENSG00000129103:ENST00000437307:exon2:c.C87T:p.S29S,ENSG00000129103:ENST00000438133:exon2:c.C87T:p.S29S,ENSG00000129103:ENST00000447501:exon2:c.C87T:p.S29S,ENSG00000129103:ENST00000451338:exon2:c.C78T:p.S26S Score=358;Name=lod=38 NA 7p11.2 NA NA NA NA rs7808729 0.14 0.14 0.118 0.152356 0.2227 0.0724 0.2133 0.0734 0.226 0.2 0.07 0.21 0.05 0.2014 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.782946 NA NA 0.223488 0.085111 NA 0.174 NA 6.0190786 1058 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 1058 7 56149362 56149362 C T exonic PHKG1 NA synonymous SNV PHKG1:NM_001258460:exon9:c.G852A:p.V284V,PHKG1:NM_006213:exon9:c.G879A:p.V293V,PHKG1:NM_001258459:exon10:c.G975A:p.V325V exonic ENSG00000164776 NA synonymous SNV ENSG00000164776:ENST00000537360:exon8:c.G717A:p.V239V,ENSG00000164776:ENST00000297373:exon9:c.G879A:p.V293V,ENSG00000164776:ENST00000452681:exon10:c.G975A:p.V325V Score=547;Name=lod=223 NA 7p11.2 NA NA NA NA rs11238393 0.13 0.13 0.125 0.149561 0.2237 0.0714 0.2147 0.0613 0.227 0.2 0.07 0.21 0.03 0.2008 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.411234 NA NA 0.223372 0.079437 NA 0.145 NA 6.0187946 1058 7 56149410 56149410 G A exonic PHKG1 NA synonymous SNV PHKG1:NM_001258460:exon9:c.C804T:p.Y268Y,PHKG1:NM_006213:exon9:c.C831T:p.Y277Y,PHKG1:NM_001258459:exon10:c.C927T:p.Y309Y exonic ENSG00000164776 NA synonymous SNV ENSG00000164776:ENST00000537360:exon8:c.C669T:p.Y223Y,ENSG00000164776:ENST00000297373:exon9:c.C831T:p.Y277Y,ENSG00000164776:ENST00000452681:exon10:c.C927T:p.Y309Y Score=369;Name=lod=42 NA 7p11.2 NA NA NA NA rs12538444 0.13 0.13 0.121 0.149561 0.2237 0.0714 0.2147 0.0613 0.227 0.2 0.07 0.21 0.04 0.201 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.148897 2.148897 NA 0.223605 0.07921 NA 0.152 NA 6.0183616 1058 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 1058 17 7411770 7411770 C T exonic POLR2A NA synonymous SNV POLR2A:NM_000937:exon20:c.C3441T:p.S1147S exonic ENSG00000181222 NA synonymous SNV ENSG00000181222:ENST00000322644:exon20:c.C3441T:p.S1147S Score=503;Name=lod=148 NA 17p13.1 NA NA NA NA rs2228132 0.13 0.13 0.142 0.157748 0.1849 0.0228 0.098 0.1725 0.2914 0.19 0.02 0.1 0.18 0.2549 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.431799 NA NA 0.208837 0.164775 ID=COSM1386355;OCCURENCE=1(large_intestine) 0.239 NA 6.0180296 1058 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 1058 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 1058 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=NRSF,YY1_(C-20),NANOG_(SC-33759),Pol2(b),TBP,p300,TCF12,TAF7_(SQ-8),Pol2,Pol2-4H8,TAF1,BCL3 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 1058 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 1058 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 1058 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=Pol2(b),TBP,NANOG_(SC-33759),YY1_(C-20),NRSF,TAF1,BCL3,Pol2-4H8,Pol2,TCF12,p300,TAF7_(SQ-8) 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 1058 9 37493588 37493588 C T exonic POLR1E NA synonymous SNV POLR1E:NM_022490:exon6:c.C435T:p.T145T exonic ENSG00000137054 NA synonymous SNV ENSG00000137054:ENST00000377792:exon5:c.C621T:p.T207T,ENSG00000137054:ENST00000377798:exon6:c.C435T:p.T145T,ENSG00000137054:ENST00000442009:exon7:c.C225T:p.T75T Score=576;Name=lod=293 NA 9p13.2 NA NA NA NA rs10758434 0.21 0.21 0.194 0.215256 0.2018 0.244 0.3112 0.1694 0.1933 0.2 0.22 0.26 0.19 0.2302 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.430509 1.430509 NA 0.217674 0.182932 NA 0.159 NA 6.0169926 1058 22 17630486 17630486 C A exonic CECR5 NA synonymous SNV CECR5:NM_017829:exon2:c.G186T:p.G62G,CECR5:NM_033070:exon2:c.G276T:p.G92G exonic ENSG00000069998 NA synonymous SNV ENSG00000069998:ENST00000155674:exon2:c.G186T:p.G62G,ENSG00000069998:ENST00000336737:exon2:c.G276T:p.G92G Score=374;Name=lod=44 NA 22q11.1 Score=938;Name=V$IK3_01 NA NA NA rs1034859 0.57 0.57 0.549 0.534345 0.5447 0.6796 0.6744 0.3759 0.4888 0.56 0.71 0.6 0.41 0.5723 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.067628 NA NA 0.533023 0.387426 NA 0.536 NA 6.0166436 1058 20 3090848 3090848 T G exonic UBOX5 NA nonsynonymous SNV UBOX5:NM_001267584:exon5:c.A1525C:p.T509P exonic ENSG00000185019 NA synonymous SNV ENSG00000185019:ENST00000348031:exon4:c.A1368C:p.R456R,ENSG00000185019:ENST00000217173:exon5:c.A1530C:p.R510R Score=535;Name=lod=200 NA 20p13 NA NA NA NA rs708973 0.22 0.22 0.193 0.215655 0.3111 0.119 0.2666 0.1543 0.2638 0.33 0.13 0.26 0.13 0.3172 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.51818 1.51818 NA 0.355116 0.16591 NA 0.348 NA 6.016584 1058 10 85981889 85981889 G A exonic LRIT2 NA synonymous SNV LRIT2:NM_001017924:exon3:c.C1440T:p.G480G exonic ENSG00000204033 NA synonymous SNV ENSG00000204033:ENST00000372113:exon3:c.C1440T:p.G480G,ENSG00000204033:ENST00000538192:exon4:c.C1470T:p.G490G Score=449;Name=lod=89 NA 10q23.1 NA NA NA NA rs12218853 0.2 0.2 0.162 0.186102 0.2316 0.2907 0.232 0.0514 0.181 0.22 0.25 0.26 0.07 0.1973 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.935386 NA NA 0.221628 0.086019 NA 0.123 NA 6.0161386 1058 16 347184 347184 A G exonic AXIN1 NA synonymous SNV AXIN1:NM_003502:exon7:c.T1827C:p.A609A,AXIN1:NM_181050:exon7:c.T1827C:p.A609A exonic ENSG00000103126 NA synonymous SNV ENSG00000103126:ENST00000262320:exon7:c.T1827C:p.A609A,ENSG00000103126:ENST00000354866:exon7:c.T1827C:p.A609A NA NA 16p13.3 Score=805;Name=V$STAT5A_02 NA NA NA rs214252 0.22 0.22 0.22 0.209265 0.2237 0.0546 0.17 0.4281 0.0859 0.21 0.07 0.2 0.42 0.1995 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.397841 NA NA 0.227674 0.38493 NA 0.21 NA 6.0157926 1058 14 53345378 53345378 G A exonic FERMT2 NA synonymous SNV FERMT2:NM_001134999:exon7:c.C885T:p.Y295Y,FERMT2:NM_001135000:exon7:c.C885T:p.Y295Y,FERMT2:NM_006832:exon7:c.C885T:p.Y295Y exonic ENSG00000073712 NA synonymous SNV ENSG00000073712:ENST00000553373:exon6:c.C885T:p.Y295Y,ENSG00000073712:ENST00000554152:exon6:c.C744T:p.Y248Y,ENSG00000073712:ENST00000341590:exon7:c.C885T:p.Y295Y,ENSG00000073712:ENST00000343279:exon7:c.C885T:p.Y295Y,ENSG00000073712:ENST00000395631:exon7:c.C885T:p.Y295Y,ENSG00000073712:ENST00000399304:exon7:c.C885T:p.Y295Y Score=645;Name=lod=560 NA 14q22.1 NA Name=CEBPB Name=11 NA rs2357947 0.74 0.74 0.74 0.719649 0.9036 0.7262 0.8228 0.4228 0.8517 0.91 0.73 0.84 0.44 0.8414 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 0.681294 NA NA 0.906395 0.487744 NA 0.725 NA 6.0152716 1058 9 71986316 71986316 G A intronic FAM189A2 NA NA NA UTR5 ENSG00000135063 ENST00000303068:c.-12231G>A NA NA NA NA 9q21.11 NA NA NA NA rs1034238 0.34 0.34 0.318 0.365016 0.4105 0.3512 0.4755 0.2663 0.3875 0.38 0.35 0.38 0.24 0.4108 0.38 1 T . . . . . . 1.000 P . . . . -0.973 T 0.000 T . -0.306 2.54 -8.18 -1.364 -0.516 1.201 -0.306445 NA 1 0.330317 0.256279 NA NA NA 6.0150497 1059 19 6919624 6919624 A C exonic EMR1 NA nonsynonymous SNV EMR1:NM_001256254:exon10:c.A1063C:p.K355Q,EMR1:NM_001256255:exon10:c.A955C:p.K319Q,EMR1:NM_001256252:exon12:c.A1330C:p.K444Q,EMR1:NM_001256253:exon13:c.A1486C:p.K496Q,EMR1:NM_001974:exon13:c.A1486C:p.K496Q exonic ENSG00000174837 NA nonsynonymous SNV ENSG00000174837:ENST00000381407:exon10:c.A1063C:p.K355Q,ENSG00000174837:ENST00000450315:exon10:c.A955C:p.K319Q,ENSG00000174837:ENST00000381404:exon12:c.A1330C:p.K444Q,ENSG00000174837:ENST00000250572:exon13:c.A1486C:p.K496Q,ENSG00000174837:ENST00000312053:exon13:c.A1486C:p.K496Q NA NA 19p13.2 NA NA NA NA rs373533 0.75 0.75 0.733 0.725839 0.7604 0.7867 0.7968 0.5938 0.7556 0.78 0.83 0.84 0.57 0.7682 0.84 0.58 T 0.0 B 0.002 B . . 1.000 P -0.92 N 0.31 T -0.980 T 0.000 T 0.072 -1.144 0.107 0.497 0.087 -1.016 1.990 -1.143794 NA 0.49 0.789767 0.608261 NA 0.609 NA 6.0149664 1059 11 609353 609353 G A exonic PHRF1 NA synonymous SNV PHRF1:NM_020901:exon14:c.G3894A:p.P1298P exonic ENSG00000070047 NA synonymous SNV ENSG00000070047:ENST00000264555:exon14:c.G3897A:p.P1299P,ENSG00000070047:ENST00000413872:exon14:c.G3891A:p.P1297P,ENSG00000070047:ENST00000416188:exon14:c.G3894A:p.P1298P,ENSG00000070047:ENST00000533464:exon14:c.G3885A:p.P1295P,ENSG00000070047:ENST00000534320:exon14:c.G3897A:p.P1299P Score=355;Name=lod=37 NA 11p15.5 NA NA NA NA rs11539530 0.2 0.2 0.203 0.186901 0.2147 0.0198 0.2507 0.3359 0.0838 0.21 0.01 0.28 0.34 0.1985 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014117 NA NA 0.23866 0.316207 NA 0.225 NA 6.0148066 1059 15 85478410 85478410 A G exonic SLC28A1 NA synonymous SNV SLC28A1:NM_004213:exon14:c.A1368G:p.Q456Q exonic ENSG00000156222 NA synonymous SNV ENSG00000156222:ENST00000286749:exon13:c.A1368G:p.Q456Q,ENSG00000156222:ENST00000394573:exon14:c.A1368G:p.Q456Q,ENSG00000156222:ENST00000537216:exon14:c.A1368G:p.Q456Q,ENSG00000156222:ENST00000537624:exon14:c.A1368G:p.Q456Q NA NA 15q25.3 Score=894;Name=V$NFE2_01 Name=CTCF_(SC-5916),CTCF,Rad21,c-Myc Name=20 NA rs2242048 0.93 0.93 0.929 0.930711 0.8907 0.9583 0.8775 0.9607 0.9407 0.9 0.95 0.88 0.97 0.8876 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 -1.063183 NA NA 0.873808 0.947798 ID=COSM434468;OCCURENCE=1(breast),1(large_intestine) 0.942 NA 6.0145586 1059 2 220083279 220083279 C T exonic ABCB6 NA synonymous SNV ABCB6:NM_005689:exon1:c.G117A:p.L39L exonic ENSG00000115657 NA synonymous SNV ENSG00000115657:ENST00000265316:exon1:c.G117A:p.L39L,ENSG00000115657:ENST00000439002:exon1:c.G117A:p.L39L Score=431;Name=lod=75 NA 2q35 NA Name=NRSF,Sin3Ak-20 Name=143 NA rs1109866 0.77 0.77 0.774 0.738019 0.9056 0.8621 0.8429 0.4145 0.8006 0.91 0.85 0.82 0.43 0.8492 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 -0.441686 NA NA 0.898672 0.48955 NA 0.732 NA 6.0131946 1059 6 151669875 151669875 A G exonic AKAP12 NA nonsynonymous SNV AKAP12:NM_144497:exon2:c.A55G:p.K19E,AKAP12:NM_005100:exon4:c.A349G:p.K117E exonic ENSG00000131016 NA nonsynonymous SNV ENSG00000131016:ENST00000354675:exon2:c.A55G:p.K19E,ENSG00000131016:ENST00000359755:exon2:c.A34G:p.K12E,ENSG00000131016:ENST00000253332:exon3:c.A349G:p.K117E,ENSG00000131016:ENST00000402676:exon4:c.A349G:p.K117E NA NA 6q25.1 NA NA NA NA rs10872670 0.74 0.74 0.736 0.686701 0.7803 0.5804 0.781 0.6876 0.6319 0.79 0.62 0.8 0.74 0.7539 0.8 1 T 0.001 B 0.0 B 0.001 N 1.000 P -1.12 N 3.42 T -0.957 T 0.001 T 0.051 -0.497 1.719 2.8 0.412 0.382 1.378 -0.497089 NA 1 0.78686 0.698139 NA 0.688 NA 6.0122734 1059 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 1059 22 18209613 18209613 A G exonic BCL2L13 NA synonymous SNV BCL2L13:NM_001270727:exon5:c.A699G:p.S233S,BCL2L13:NM_001270730:exon5:c.A285G:p.S95S,BCL2L13:NM_001270726:exon6:c.A843G:p.S281S,BCL2L13:NM_001270729:exon6:c.A285G:p.S95S,BCL2L13:NM_001270731:exon6:c.A285G:p.S95S,BCL2L13:NM_015367:exon7:c.A771G:p.S257S exonic ENSG00000099968 NA synonymous SNV ENSG00000099968:ENST00000538149:exon4:c.A399G:p.S133S,ENSG00000099968:ENST00000337612:exon5:c.A285G:p.S95S,ENSG00000099968:ENST00000543133:exon6:c.A285G:p.S95S,ENSG00000099968:ENST00000317582:exon7:c.A771G:p.S257S Score=309;Name=lod=24 NA 22q11.21 NA NA Name=44 NA rs4488761 0.66 0.66 0.628 0.665935 0.5358 0.9325 0.6527 0.5764 0.6554 0.52 0.93 0.64 0.59 0.5914 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 0.051594 NA NA 0.528023 0.600091 NA 0.457 NA 6.0114436 1059 22 37469591 37469591 G A exonic TMPRSS6 NA synonymous SNV TMPRSS6:NM_153609:exon13:c.C1563T:p.D521D exonic ENSG00000187045 NA synonymous SNV ENSG00000187045:ENST00000346753:exon13:c.C1563T:p.D521D,ENSG00000187045:ENST00000381792:exon13:c.C1536T:p.D512D,ENSG00000187045:ENST00000406725:exon13:c.C1536T:p.D512D,ENSG00000187045:ENST00000406856:exon13:c.C1536T:p.D512D Score=454;Name=lod=93 Name=Hematology traits,Red blood cell traits,Iron status biomarkers,Iron levels 22q12.3 NA NA NA NA rs4820268 0.54 0.54 0.546 0.54353 0.5775 0.4365 0.4669 0.7239 0.4294 0.56 0.43 0.47 0.7 0.539 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 -1.170035 NA NA 0.538837 0.733772 ID=COSM149290;OCCURENCE=1(stomach) 0.471 NA 6.0113296 1059 22 23165340 23165340 C G ncRNA_exonic MIR650 NA NA NA exonic ENSG00000211671 NA nonsynonymous SNV ENSG00000211671:ENST00000390317:exon1:c.C26G:p.T9S NA NA 22q11.22 NA Name=Pol2 NA NA rs5996397 0.15 0.15 0.122 0.152556 0.1501 NA 0.1398 0.3472 0.0583 0.14 NA 0.14 0.34 0.182 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.611852 NA 0.16 0.156635 0.307668 NA 0.116 NA 6.011265 1059 4 74285239 74285239 C T exonic ALB NA synonymous SNV ALB:NM_000477:exon13:c.C1668T:p.L556L exonic ENSG00000163631 NA synonymous SNV ENSG00000163631:ENST00000415165:exon9:c.C1092T:p.L364L,ENSG00000163631:ENST00000401494:exon11:c.C1323T:p.L441L,ENSG00000163631:ENST00000503124:exon11:c.C1218T:p.L406L,ENSG00000163631:ENST00000295897:exon13:c.C1668T:p.L556L,ENSG00000163631:ENST00000509063:exon13:c.C1668T:p.L556L NA NA 4q13.3 NA Name=HEY1,Pol2 NA NA rs962004 0.5 0.5 0.497 0.483427 0.5507 0.5565 0.4078 0.4251 0.4714 0.56 0.53 0.43 0.43 0.5354 0.57 . . . . . . . . 0.755 P . . . . -0.914 T 0.000 T . -0.566 1.447 -1.7 -0.037 -0.122 6.398 -0.566117 NA NA 0.570016 0.417385 NA 0.442 NA 6.0105506 1059 10 75865065 75865065 G A exonic VCL NA synonymous SNV VCL:NM_003373:exon16:c.G2388A:p.P796P,VCL:NM_014000:exon16:c.G2388A:p.P796P exonic ENSG00000035403 NA synonymous SNV ENSG00000035403:ENST00000436396:exon9:c.G1404A:p.P468P,ENSG00000035403:ENST00000211998:exon16:c.G2388A:p.P796P,ENSG00000035403:ENST00000372755:exon16:c.G2388A:p.P796P NA NA 10q22.2 Score=823;Name=V$CDPCR3_01 NA NA NA rs767809 0.37 0.37 0.349 0.324681 0.5915 0.254 0.4568 0.0598 0.3875 0.6 0.27 0.46 0.07 0.4761 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.515289 NA NA 0.589535 0.144349 NA 0.457 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000038812.1|RCV000126279.1;CLNDSDB=.|.;CLNDSDBID=.|. 6.0095316 1059 12 71139664 71139664 T C exonic PTPRR NA nonsynonymous SNV PTPRR:NM_130846:exon2:c.A206G:p.K69R,PTPRR:NM_001207016:exon3:c.A323G:p.K108R,PTPRR:NM_001207015:exon5:c.A605G:p.K202R,PTPRR:NM_002849:exon6:c.A941G:p.K314R exonic ENSG00000153233 NA nonsynonymous SNV ENSG00000153233:ENST00000440835:exon2:c.A206G:p.K69R,ENSG00000153233:ENST00000378778:exon3:c.A323G:p.K108R,ENSG00000153233:ENST00000549308:exon3:c.A206G:p.K69R,ENSG00000153233:ENST00000550661:exon3:c.A206G:p.K69R,ENSG00000153233:ENST00000342084:exon5:c.A605G:p.K202R,ENSG00000153233:ENST00000283228:exon6:c.A941G:p.K314R Score=464;Name=lod=103 NA 12q15 NA NA NA NA rs3803036 0.72 0.72 0.673 0.678315 0.7763 0.9385 0.7983 0.2784 0.7648 0.78 0.94 0.78 0.33 0.7623 0.94 0.51 T 0.002 B 0.002 B 0.069 N 1.000 P 0.49 N 1.46 T -1.021 T 0.000 T 0.307 1.007 9.111 0.593 -0.122 0.832 9.085 1.006603 NA 0.72 0.785233 0.379936 NA 0.652 NA 6.0095004 1059 14 24587667 24587667 C T exonic DCAF11 NA synonymous SNV DCAF11:NM_001163484:exon7:c.C648T:p.D216D,DCAF11:NM_025230:exon7:c.C648T:p.D216D,DCAF11:NM_181357:exon7:c.C570T:p.D190D exonic ENSG00000100897 NA synonymous SNV ENSG00000100897:ENST00000396936:exon5:c.C348T:p.D116D,ENSG00000100897:ENST00000396941:exon7:c.C570T:p.D190D,ENSG00000100897:ENST00000446197:exon7:c.C648T:p.D216D,ENSG00000100897:ENST00000559115:exon7:c.C648T:p.D216D Score=681;Name=lod=784 NA 14q11.2 NA NA NA NA rs17101367 0.3 0.3 0.266 0.332268 0.2167 0.3889 0.4107 0.3094 0.3681 0.21 0.35 0.4 0.31 0.2609 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.364464 NA NA 0.179884 0.27803 NA 0.268 NA 6.0091826 1059 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 1059 3 122354716 122354716 C T exonic PARP15 NA synonymous SNV PARP15:NM_152615:exon8:c.C1104T:p.D368D,PARP15:NM_001113523:exon12:c.C1806T:p.D602D exonic ENSG00000173200 NA synonymous SNV ENSG00000173200:ENST00000493645:exon7:c.C897T:p.D299D,ENSG00000173200:ENST00000310366:exon8:c.C1104T:p.D368D,ENSG00000173200:ENST00000483793:exon9:c.C1221T:p.D407D,ENSG00000173200:ENST00000464300:exon12:c.C1806T:p.D602D NA NA 3q21.1 NA NA Name=49 NA rs61754895 0.12 0.12 0.116 0.107428 0.2465 0.0099 0.1297 0.0567 0.1176 0.25 0.01 0.14 0.05 0.179 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.547385 NA NA 0.233256 0.071039 NA 0.188 NA 6.0079106 1059 2 71633389 71633389 C T exonic ZNF638 NA synonymous SNV ZNF638:NM_001014972:exon19:c.C3132T:p.N1044N,ZNF638:NM_001252612:exon19:c.C3132T:p.N1044N,ZNF638:NM_001252613:exon19:c.C3132T:p.N1044N,ZNF638:NM_014497:exon19:c.C3132T:p.N1044N exonic ENSG00000075292 NA synonymous SNV ENSG00000075292:ENST00000264447:exon19:c.C3132T:p.N1044N,ENSG00000075292:ENST00000355812:exon19:c.C3132T:p.N1044N,ENSG00000075292:ENST00000409544:exon19:c.C3132T:p.N1044N Score=425;Name=lod=71 NA 2p13.2 Score=851;Name=V$FREAC7_01 NA NA NA rs6714975 0.43 0.43 0.389 0.42472 0.5527 0.2927 0.6225 0.2201 0.5654 0.54 0.34 0.58 0.26 0.5269 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.70049 NA NA 0.579302 0.27089 NA 0.42 NA 6.0077646 1059 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 1059 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 1059 10 71391538 71391538 T C exonic C10orf35 NA synonymous SNV C10orf35:NM_145306:exon3:c.T39C:p.D13D exonic ENSG00000171224 NA synonymous SNV ENSG00000171224:ENST00000373279:exon3:c.T39C:p.D13D,ENSG00000171224:ENST00000421716:exon3:c.T165C:p.D55D Score=410;Name=lod=62 NA 10q22.1 NA NA NA NA rs1381932 0.18 0.18 0.173 0.194289 0.2087 0.0407 0.1513 0.2821 0.2495 0.22 0.04 0.15 0.29 0.2283 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.552252 1.552252 NA 0.222791 0.294144 NA 0.196 NA 6.0068756 1059 9 990840 990840 C T exonic DMRT3 NA synonymous SNV DMRT3:NM_021240:exon2:c.C1254T:p.V418V exonic ENSG00000064218 NA synonymous SNV ENSG00000064218:ENST00000190165:exon2:c.C1254T:p.V418V Score=448;Name=lod=88 NA 9p24.3 NA NA NA NA rs7021244 0.17 0.17 0.151 0.185503 0.2167 0.2312 0.1758 0.0113 0.3487 0.22 0.22 0.16 0.02 0.2207 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.568907 NA NA 0.222558 0.049478 NA 0.152 NA 6.0067086 1059 16 57555076 57555076 C T exonic CCDC102A NA synonymous SNV CCDC102A:NM_033212:exon4:c.G825A:p.A275A exonic ENSG00000135736 NA synonymous SNV ENSG00000135736:ENST00000258214:exon4:c.G825A:p.A275A Score=604;Name=lod=379 NA 16q21 NA NA NA NA rs28446687 0.18 0.18 0.207 0.184904 0.2366 0.0298 0.134 0.3162 0.1503 0.24 0.03 0.16 0.29 0.2019 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039367 NA NA 0.22186 0.301638 NA 0.152 NA 6.0063066 1059 9 25677933 25677933 T C exonic TUSC1 NA synonymous SNV TUSC1:NM_001004125:exon1:c.A387G:p.A129A exonic ENSG00000198680 NA synonymous SNV ENSG00000198680:ENST00000358022:exon1:c.A387G:p.A129A NA NA 9p21.2 NA Name=Pol2 Name=110 NA rs35110225 0.47 0.47 0.456 0.427516 0.5785 0.2748 0.4424 0.4932 0.3303 0.57 0.31 0.48 0.48 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 -0.602344 NA NA 0.58082 0.518097 NA 0.116 NA 6.0059466 1059 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 1059 12 103872172 103872172 T G exonic C12orf42 NA nonsynonymous SNV C12orf42:NM_001099336:exon2:c.A33C:p.E11D,C12orf42:NM_198521:exon2:c.A33C:p.E11D exonic ENSG00000179088 NA nonsynonymous SNV ENSG00000179088:ENST00000315192:exon2:c.A33C:p.E11D,ENSG00000179088:ENST00000378113:exon2:c.A33C:p.E11D,ENSG00000179088:ENST00000547347:exon2:c.A33C:p.E11D,ENSG00000179088:ENST00000548883:exon2:c.A33C:p.E11D,ENSG00000179088:ENST00000551134:exon2:c.A33C:p.E11D,ENSG00000179088:ENST00000552578:exon2:c.A33C:p.E11D NA NA 12q23.3 NA NA NA NA rs10778257 0.54 0.54 0.488 NA NA NA NA NA NA 0.66 0.52 0.7 0.28 0.6458 0.7 0.17 T 0.215 B 0.072 B . . 1.000 P 0.345 N 1.27 T -0.985 T 0.000 T 0.191 1.932 12.42 -0.6 -0.099 0.051 2.691 1.931885 1.931885 0 0.681952 0.354873 NA 0.565 NA 6.0055814 1059 7 5410425 5410425 G C exonic TNRC18 NA nonsynonymous SNV TNRC18:NM_001080495:exon11:c.C3800G:p.A1267G exonic ENSG00000182095 NA nonsynonymous SNV ENSG00000182095:ENST00000399537:exon11:c.C3800G:p.A1267G,ENSG00000182095:ENST00000430969:exon11:c.C3800G:p.A1267G NA NA 7p22.1 NA NA NA NA rs12671708 0.36 0.36 0.327 0.343051 0.4175 0.4236 0.487 0.059 0.4652 0.42 0.43 0.48 0.09 0.4666 0.48 0.53 T 0.0 B 0.001 B 0.686 N 1.000 P 1.5 L 2.75 T -0.936 T 0.000 T 0.04 0.095 4.511 -0.141 -0.021 -0.160 6.861 0.094781 NA 0.27 0.443886 0.11864 NA 0.239 NA 6.0053474 1059 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 1060 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 1060 1 155162067 155162067 C T exonic MUC1 NA synonymous SNV MUC1:NM_001018016:exon2:c.G93A:p.T31T,MUC1:NM_001018017:exon2:c.G66A:p.T22T,MUC1:NM_001044390:exon2:c.G66A:p.T22T,MUC1:NM_001044391:exon2:c.G66A:p.T22T,MUC1:NM_001044392:exon2:c.G93A:p.T31T,MUC1:NM_001044393:exon2:c.G66A:p.T22T,MUC1:NM_001204285:exon2:c.G66A:p.T22T,MUC1:NM_001204286:exon2:c.G93A:p.T31T,MUC1:NM_001204287:exon2:c.G93A:p.T31T,MUC1:NM_001204288:exon2:c.G93A:p.T31T,MUC1:NM_001204289:exon2:c.G93A:p.T31T,MUC1:NM_001204291:exon2:c.G93A:p.T31T,MUC1:NM_001204292:exon2:c.G93A:p.T31T,MUC1:NM_001204293:exon2:c.G66A:p.T22T,MUC1:NM_001204294:exon2:c.G66A:p.T22T,MUC1:NM_001204295:exon2:c.G93A:p.T31T,MUC1:NM_001204296:exon2:c.G93A:p.T31T,MUC1:NM_001204297:exon2:c.G93A:p.T31T,MUC1:NM_002456:exon2:c.G66A:p.T22T exonic ENSG00000185499 NA synonymous SNV ENSG00000185499:ENST00000337604:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000338684:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000342482:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000343256:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000368389:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000368390:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000368392:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000368393:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000368395:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000368396:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000368398:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000438413:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000457295:exon2:c.G93A:p.T31T NA Name=Magnesium levels,Esophageal cancer and gastric cancer 1q22 NA Name=Pol2 NA NA rs4072037 0.68 0.68 0.628 0.628794 0.5477 0.7619 0.7133 0.6044 0.5481 0.59 0.84 0.66 0.66 0.579 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 -0.331315 NA NA 0.535465 0.644349 NA 0.703 NA 6.0045016 1060 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 1060 4 184614874 184614874 C T exonic TRAPPC11 NA synonymous SNV TRAPPC11:NM_021942:exon21:c.C2370T:p.T790T,TRAPPC11:NM_199053:exon21:c.C2370T:p.T790T exonic ENSG00000168538 NA synonymous SNV ENSG00000168538:ENST00000512476:exon10:c.C1188T:p.T396T,ENSG00000168538:ENST00000334690:exon21:c.C2370T:p.T790T,ENSG00000168538:ENST00000357207:exon21:c.C2370T:p.T790T Score=540;Name=lod=209 NA 4q35.1 NA NA NA NA rs4862234 0.23 0.23 0.246 0.223043 0.2177 0.1776 0.1974 0.3268 0.1534 0.23 0.18 0.21 0.32 0.2203 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.836688 NA NA 0.224651 0.321607 NA 0.167 NA 6.0040156 1060 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 1060 11 20104669 20104669 G A exonic NAV2 NA synonymous SNV NAV2:NM_001111019:exon16:c.G2634A:p.P878P,NAV2:NM_001111018:exon26:c.G5250A:p.P1750P,NAV2:NM_145117:exon26:c.G5442A:p.P1814P,NAV2:NM_182964:exon26:c.G5451A:p.P1817P,NAV2:NM_001244963:exon28:c.G5619A:p.P1873P exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000311043:exon15:c.G2634A:p.P878P,ENSG00000166833:ENST00000533917:exon16:c.G2634A:p.P878P,ENSG00000166833:ENST00000349880:exon26:c.G5442A:p.P1814P,ENSG00000166833:ENST00000360655:exon26:c.G5250A:p.P1750P,ENSG00000166833:ENST00000396085:exon27:c.G5451A:p.P1817P,ENSG00000166833:ENST00000396087:exon29:c.G5619A:p.P1873P,ENSG00000166833:ENST00000527559:exon30:c.G5406A:p.P1802P,ENSG00000166833:ENST00000540292:exon30:c.G5412A:p.P1804P Score=501;Name=lod=145 NA 11p15.1 Score=879;Name=V$SOX9_B1 NA NA NA rs2028570 0.41 0.41 0.4 0.437899 0.5765 0.3065 0.4265 0.2262 0.7249 0.58 0.34 0.43 0.23 0.5281 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.857727 NA NA 0.560116 0.278257 NA 0.348 NA 6.0019506 1060 3 128344786 128344786 G A exonic RPN1 NA synonymous SNV RPN1:NM_002950:exon7:c.C1206T:p.D402D exonic ENSG00000163902 NA synonymous SNV ENSG00000163902:ENST00000296255:exon7:c.C1206T:p.D402D,ENSG00000163902:ENST00000497289:exon7:c.C690T:p.D230D Score=539;Name=lod=206 NA 3q21.3 NA NA NA NA rs1126828 0.24 0.24 0.228 0.238019 0.2137 0.4147 0.2003 0.143 0.2362 0.21 0.41 0.2 0.13 0.2243 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.062238 NA NA 0.226744 0.142306 ID=COSM149463;OCCURENCE=1(stomach) 0.167 NA 6.0019226 1060 2 233750074 233750074 C T exonic NGEF NA synonymous SNV NGEF:NM_001114090:exon8:c.G1077A:p.V359V,NGEF:NM_019850:exon10:c.G1353A:p.V451V exonic ENSG00000066248 NA synonymous SNV ENSG00000066248:ENST00000416114:exon6:c.G522A:p.V174V,ENSG00000066248:ENST00000539537:exon6:c.G522A:p.V174V,ENSG00000066248:ENST00000373552:exon8:c.G1077A:p.V359V,ENSG00000066248:ENST00000264051:exon10:c.G1353A:p.V451V Score=446;Name=lod=87 NA 2q37.1 NA NA NA NA rs2292725 0.18 0.18 0.188 0.154353 0.2465 0.0992 0.1427 0.1861 0.0818 0.25 0.08 0.17 0.22 0.1933 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.140433 NA NA 0.225233 0.182251 NA 0.355 NA 6.0016336 1060 5 150723806 150723806 G A exonic SLC36A2 NA synonymous SNV SLC36A2:NM_181776:exon2:c.C187T:p.L63L exonic ENSG00000186335 NA synonymous SNV ENSG00000186335:ENST00000335244:exon2:c.C187T:p.L63L,ENSG00000186335:ENST00000518280:exon2:c.C187T:p.L63L,ENSG00000186335:ENST00000518617:exon2:c.C187T:p.L63L,ENSG00000186335:ENST00000521967:exon2:c.C187T:p.L63L Score=561;Name=lod=253 NA 5q33.1 Score=782;Name=V$MIF1_01 NA NA NA rs192192 0.6 0.6 0.586 0.6252 0.5348 0.9841 0.6369 0.3064 0.771 0.53 0.98 0.62 0.26 0.6064 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 0.936987 NA NA 0.523837 0.364503 NA 0.58 NA 6.0016296 1060 19 15271771 15271771 G A exonic NOTCH3 NA nonsynonymous SNV NOTCH3:NM_000435:exon33:c.C6668T:p.A2223V exonic ENSG00000074181 NA nonsynonymous SNV ENSG00000074181:ENST00000263388:exon33:c.C6668T:p.A2223V NA NA 19p13.12 NA NA NA NA rs1044009 0.63 0.63 0.621 0.629393 0.7714 0.5724 0.6196 0.5 0.7239 0.78 0.57 0.63 0.47 0.7591 0.8 0.32 T 0.001 B 0.003 B . . 1.000 P 0 N -1.47 T -0.953 T 0.000 T 0.092 0.586 7.163 0.427 0.078 1.122 8.067 0.586008 NA 0.14 0.801284 0.602984 NA 0.558 NA 6.0015494 1060 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 1060 11 118514625 118514625 C T exonic PHLDB1 NA synonymous SNV PHLDB1:NM_001144759:exon13:c.C2844T:p.S948S,PHLDB1:NM_001144758:exon14:c.C2985T:p.S995S,PHLDB1:NM_015157:exon15:c.C2985T:p.S995S exonic ENSG00000019144 NA synonymous SNV ENSG00000019144:ENST00000524713:exon3:c.C414T:p.S138S,ENSG00000019144:ENST00000527898:exon3:c.C93T:p.S31S,ENSG00000019144:ENST00000356063:exon13:c.C2844T:p.S948S,ENSG00000019144:ENST00000528594:exon13:c.C2844T:p.S948S,ENSG00000019144:ENST00000530994:exon14:c.C2844T:p.S948S,ENSG00000019144:ENST00000361417:exon15:c.C2985T:p.S995S Score=489;Name=lod=130 NA 11q23.3 NA NA NA NA rs11216938 0.19 0.19 0.16 0.220447 0.2157 0.2302 0.2118 0.1082 0.3732 0.18 0.24 0.25 0.1 0.2342 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.44546 1.44546 NA 0.215533 0.121136 ID=COSM1561066;OCCURENCE=1(large_intestine) 0.203 NA 6.0012336 1060 19 52938361 52938361 C A exonic ZNF534 NA nonsynonymous SNV ZNF534:NM_001143938:exon3:c.C170A:p.T57N,ZNF534:NM_001143939:exon3:c.C209A:p.T70N exonic ENSG00000198633 NA nonsynonymous SNV ENSG00000198633:ENST00000332323:exon3:c.C209A:p.T70N,ENSG00000198633:ENST00000433050:exon3:c.C170A:p.T57N,ENSG00000198633:ENST00000301085:exon4:c.C170A:p.T57N NA NA 19q13.41 NA NA NA NA rs11084161 0.84 0.84 0.822 0.820887 0.9553 0.6587 0.8977 0.8026 0.82 0.96 0.67 0.91 0.8 0.9125 0.96 0.14 T 0.902 P 0.148 B . . 1.000 P 0.575 N 5.66 T -0.972 T 0.000 T 0.035 -0.167 3.185 -2.36 -0.672 0.304 4.777 -0.167134 NA 0.28 0.964405 0.845344 NA 0.833 NA 6.0011284 1060 19 41012190 41012190 C T exonic SPTBN4 NA synonymous SNV SPTBN4:NM_020971:exon13:c.C1713T:p.D571D exonic ENSG00000160460 NA synonymous SNV ENSG00000160460:ENST00000338932:exon13:c.C1713T:p.D571D,ENSG00000160460:ENST00000344104:exon13:c.C1713T:p.D571D,ENSG00000160460:ENST00000352632:exon13:c.C1713T:p.D571D,ENSG00000160460:ENST00000595535:exon13:c.C1713T:p.D571D,ENSG00000160460:ENST00000598249:exon13:c.C1713T:p.D571D Score=563;Name=lod=260 NA 19q13.2 NA NA NA NA rs7258094 0.19 0.19 0.226 0.188898 0.2167 0.0833 0.1614 0.27 0.1789 0.23 0.08 0.18 0.28 0.2104 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14551 NA NA 0.238488 0.257603 NA 0.174 NA 6.0010786 1060 16 1823444 1823444 C G exonic EME2 NA synonymous SNV EME2:NM_001257370:exon1:c.C216G:p.V72V exonic ENSG00000197774 NA synonymous SNV ENSG00000197774:ENST00000307394:exon1:c.C216G:p.V72V,ENSG00000197774:ENST00000568449:exon1:c.C216G:p.V72V NA NA 16p13.3 NA Name=Rad21,YY1_(C-20),Sin3Ak-20,CCNT2,SMC3_(ab9263),USF-1,CTCF,E2F6_(H-50),TCF12,GABP,CTCF_(SC-5916),Pol2-4H8,Znf143_(16618-1-AP),TAF1,ETS1 Name=90 NA rs761065 0.38 0.38 0.384 0.336062 0.5666 0.2808 0.4885 0.0915 0.3783 0.57 0.28 0.52 0.11 0.5569 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.679939 NA NA 0.542461 0.138906 NA 0.196 NA 6.0007056 1060 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 1060 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=Rad21,c-Myc,Sin3Ak-20,ZBTB7A_(SC-34508),USF-1,E2F6,E2F6_(H-50),CTCF,HDAC2_(SC-6296),GABP,HMGN3,ETS1 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 1060 19 56459342 56459342 C T exonic NLRP8 NA nonsynonymous SNV NLRP8:NM_176811:exon1:c.C74T:p.P25L exonic ENSG00000179709 NA nonsynonymous SNV ENSG00000179709:ENST00000291971:exon1:c.C74T:p.P25L,ENSG00000179709:ENST00000590542:exon1:c.C74T:p.P25L NA NA 19q13.43 NA NA NA NA rs306507 0.71 0.71 0.724 0.721246 0.5984 0.8115 0.7565 0.7307 0.7168 0.61 0.83 0.72 0.73 0.6501 0.83 0.79 T 0.795 P 0.126 B . . 1.000 P 0 N -0.77 T -0.903 T 0.000 T 0.065 0.537 6.905 0.802 0.358 -0.441 4.307 0.536617 NA 1 0.584302 0.712892 NA 0.536 NA 6.0005314 1060 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 1060 11 118529017 118529017 T G exonic TREH NA unknown UNKNOWN exonic ENSG00000118094 NA stoploss ENSG00000118094:ENST00000530256:exon13:c.A1364C:p.X455S,ENSG00000118094:ENST00000525958:exon14:c.A1640C:p.X547S,ENSG00000118094:ENST00000529101:exon15:c.A1733C:p.X578S NA NA 11q23.3 NA NA NA NA rs6589669 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . . . 1.000 P . . . . . . . . . 2.565 14.54 2.25 0.082 0.619 6.621 2.565452 2.565452 NA NA NA NA 0.964 NA 6 1060 15 83224696 83224696 C T exonic CPEB1 NA synonymous SNV CPEB1:NM_001079535:exon3:c.G558A:p.P186P,CPEB1:NM_001079533:exon4:c.G558A:p.P186P,CPEB1:NM_001079534:exon4:c.G558A:p.P186P,CPEB1:NM_030594:exon5:c.G783A:p.P261P exonic ENSG00000214575 NA nonsynonymous SNV ENSG00000214575:ENST00000570229:exon3:c.G331A:p.V111I Score=470;Name=lod=108 NA 15q25.2 Score=777;Name=V$PPARG_03 NA NA NA rs1145171 1 1 1 1 1 1 1 1 1 1 0.99 1 0.99 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 2.19797 2.19797 NA NA NA NA 1 NA 6 1060 11 60234539 60234539 T C intronic MS4A1 NA NA NA intronic ENSG00000156738 NA NA NA Score=369;Name=lod=42 NA 11q12.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008238 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.031354 NA NA NA NA NA NA NA 5.9999918 1060 5 76707920 76707920 C T intronic PDE8B NA NA NA intronic ENSG00000113231 NA NA NA Score=498;Name=lod=141 NA 5q13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008257 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.835752 1.835752 NA NA NA NA NA NA 5.9999917 1060 19 50304215 50304215 C T intronic AP2A1 NA NA NA intronic ENSG00000196961 NA NA NA Score=474;Name=lod=113 NA 19q13.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002397 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.451789 1.451789 NA NA NA NA NA NA 5.999976 1060 3 48658272 48658272 C T downstream TMEM89 NA NA NA UTR3 ENSG00000183396 ENST00000330862:c.*3G>A NA NA NA NA 3p21.31 Score=905;Name=V$AP1FJ_Q2 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 -0.557214 NA NA NA NA NA NA NA 5.9999 1060 20 17716286 17716286 C T intronic BANF2 NA NA NA intronic ENSG00000125888 NA NA NA NA NA 20p12.1 NA Name=USF-1 Name=82 NA rs369327159 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004134 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 0.610034 NA NA 0.000233 0 NA NA NA 5.9997257 1060 1 1158631 1158631 A G exonic SDF4 NA synonymous SNV SDF4:NM_016176:exon4:c.T570C:p.D190D,SDF4:NM_016547:exon4:c.T570C:p.D190D exonic ENSG00000078808 NA synonymous SNV ENSG00000078808:ENST00000263741:exon4:c.T570C:p.D190D,ENSG00000078808:ENST00000360001:exon4:c.T570C:p.D190D,ENSG00000078808:ENST00000465727:exon4:c.T570C:p.D190D,ENSG00000078808:ENST00000545427:exon4:c.T570C:p.D190D NA NA 1p36.33 NA NA NA NA rs6603781 0.94 0.94 0.935 0.953275 0.8608 1 0.9294 0.9985 0.956 0.87 1 0.93 1 0.9166 1 . . . . . . . . 0.000 P . . . . . . . . . -1.117 0.128 -8.16 -2.462 -0.115 17.336 -1.117338 NA NA 0.889767 0.978892 NA 0.964 NA 5.9994996 1060 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 1060 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 1060 5 96121524 96121524 C T exonic ERAP1 NA synonymous SNV ERAP1:NM_001040458:exon13:c.G1911A:p.A637A,ERAP1:NM_001198541:exon13:c.G1911A:p.A637A,ERAP1:NM_016442:exon13:c.G1911A:p.A637A exonic ENSG00000164307 NA synonymous SNV ENSG00000164307:ENST00000296754:exon13:c.G1911A:p.A637A,ENSG00000164307:ENST00000443439:exon13:c.G1911A:p.A637A Score=596;Name=lod=354 NA 5q15 Score=707;Name=V$P53_01 NA NA NA rs469783 0.54 0.54 0.57 0.557109 0.5577 0.5427 0.5403 0.5855 0.545 0.57 0.51 0.51 0.57 0.5531 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.561554 1.561554 NA 0.557326 0.574444 NA 0.457 NA 5.9985406 1060 5 175998246 175998246 T C exonic CDHR2 NA synonymous SNV CDHR2:NM_001171976:exon6:c.T348C:p.D116D,CDHR2:NM_017675:exon6:c.T348C:p.D116D exonic ENSG00000074276 NA synonymous SNV ENSG00000074276:ENST00000506348:exon5:c.T348C:p.D116D,ENSG00000074276:ENST00000261944:exon6:c.T348C:p.D116D,ENSG00000074276:ENST00000510636:exon6:c.T348C:p.D116D Score=414;Name=lod=64 NA 5q35.2 NA NA NA NA rs17078320 0.31 0.31 0.278 0.320687 0.2157 0.4841 0.2262 0.3026 0.3517 0.21 0.49 0.2 0.32 0.2556 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.854008 NA NA 0.19686 0.293917 NA 0.355 NA 5.9985066 1060 9 135493831 135493831 G C intronic DDX31 NA NA NA intronic ENSG00000125485 NA NA NA Score=403;Name=lod=58 NA 9q34.13 NA NA Name=2 NA rs199921534 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0007 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 1.767443 1.767443 NA 0.001395 0.000227 NA NA NA 5.997905 1060 2 238233410 238233410 C G UTR3 COL6A3 NM_004369:c.*7G>C,NM_057167:c.*7G>C,NM_057166:c.*7G>C NA NA UTR3 ENSG00000163359 ENST00000353578:c.*7G>C,ENST00000347401:c.*7G>C,ENST00000295550:c.*7G>C,ENST00000472056:c.*7G>C NA NA NA NA 2q37.3 NA NA Name=5 NA rs4663722 0.17 0.17 0.154 0.209864 0.1034 0.2599 0.1599 0.2769 0.2127 0.1 0.21 0.16 0.26 0.1415 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.728505 NA NA 0.09093 0.230595 NA 0.152 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080905.2;CLNDSDB=.;CLNDSDBID=. 5.9975034 1060 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 1060 3 9885129 9885129 C T intronic RPUSD3 NA NA NA intronic ENSG00000156990,ENSG00000214021 NA NA NA NA NA 3p25.3 NA Name=c-Myc,PAX5-C20,TAF1,Pol2 Name=59 NA rs200471039 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001 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 1.352977 1.352977 NA 0.002442 0.000681 NA NA NA 5.996558 1060 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 1060 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 1060 1 19186129 19186129 G C exonic TAS1R2 NA nonsynonymous SNV TAS1R2:NM_152232:exon1:c.C26G:p.S9C exonic ENSG00000179002 NA nonsynonymous SNV ENSG00000179002:ENST00000375371:exon1:c.C26G:p.S9C NA NA 1p36.13 NA NA NA NA rs9701796 0.78 0.78 0.761 0.797923 0.7833 0.7748 0.8415 0.8207 0.7751 0.79 0.73 0.83 0.79 0.7804 0.87 1 T 0.0 B 0.0 B . . 1.000 P -1.1 N -2.47 D -0.963 T 0.000 T 0.061 -1.591 0.014 1.14 0.083 -0.038 8.487 -1.590631 NA 1 0.773256 0.830232 NA 0.841 NA 5.9963774 1060 7 149515775 149515775 C G exonic SSPO NA nonsynonymous SNV SSPO:NM_198455:exon83:c.C11676G:p.C3892W ncRNA_exonic ENSG00000197558 NA NA NA Score=432;Name=lod=76 NA 7q36.1 NA NA NA NA rs1557955 0.19 0.19 0.163 0.202077 0.1541 0.1746 0.1988 0.2474 0.2209 0.15 0.19 0.22 0.23 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 0.335825 NA 0 0.166707 0.199544 NA 0.13 NA 5.996293 1060 4 15964485 15964485 G A exonic FGFBP2 NA nonsynonymous SNV FGFBP2:NM_031950:exon1:c.C268T:p.P90S exonic ENSG00000137441 NA nonsynonymous SNV ENSG00000137441:ENST00000259989:exon1:c.C268T:p.P90S NA NA 4p15.32 NA NA NA NA rs758329 0.42 0.42 0.43 0.33726 0.4722 0.501 0.2954 0.2194 0.2188 0.49 0.54 0.31 0.25 0.4032 0.54 0.42 T 0.126 B 0.042 B 0.386 U 1.000 P 0 N 2.66 T -0.972 T 0.000 T 0.073 -1.073 0.169 1.08 -0.187 0.703 5.932 -1.073128 NA 0.15 0.461977 0.242397 ID=COSM447553;OCCURENCE=1(breast),1(large_intestine) 0.29 NA 5.9959564 1060 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 1060 6 41197857 41197857 C T exonic TREML4 NA nonsynonymous SNV TREML4:NM_198153:exon4:c.C503T:p.T168I exonic ENSG00000188056 NA nonsynonymous SNV ENSG00000188056:ENST00000341495:exon4:c.C503T:p.T168I,ENSG00000188056:ENST00000448827:exon4:c.C503T:p.T168I NA NA 6p21.1 NA NA NA NA rs7769759 0.72 0.72 0.714 0.690695 0.7734 0.8393 0.8141 0.4228 0.727 0.77 0.87 0.79 0.42 0.7737 0.87 0.31 T 0.009 B 0.003 B . . 1.000 P 0.55 N 3.24 T -0.906 T 0.004 T 0.457 0.906 8.685 -2.09 -0.405 -0.289 1.664 0.906053 NA 0.29 0.79093 0.489106 NA 0.768 NA 5.9953034 1061 9 37500895 37500895 T C exonic POLR1E NA synonymous SNV POLR1E:NM_022490:exon10:c.T945C:p.T315T exonic ENSG00000137054 NA synonymous SNV ENSG00000137054:ENST00000377792:exon9:c.T1131C:p.T377T,ENSG00000137054:ENST00000377798:exon10:c.T945C:p.T315T,ENSG00000137054:ENST00000442009:exon11:c.T735C:p.T245T Score=558;Name=lod=246 NA 9p13.2 NA NA NA NA rs2277161 0.27 0.27 0.247 0.283946 0.2028 0.244 0.3256 0.4221 0.1922 0.2 0.22 0.28 0.43 0.2493 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.172298 NA NA 0.219651 0.396051 NA 0.254 NA 5.9949156 1061 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 1061 3 105438957 105438957 T G exonic CBLB NA synonymous SNV CBLB:NM_170662:exon10:c.A1341C:p.L447L exonic ENSG00000114423 NA synonymous SNV ENSG00000114423:ENST00000264122:exon10:c.A1341C:p.L447L,ENSG00000114423:ENST00000394027:exon10:c.A1407C:p.L469L,ENSG00000114423:ENST00000403724:exon10:c.A1341C:p.L447L,ENSG00000114423:ENST00000405772:exon10:c.A1341C:p.L447L Score=471;Name=lod=109 NA 3q13.11 NA NA NA NA rs2305036 0.24 0.24 0.222 0.210264 0.2376 0.2192 0.2968 0.1936 0.1339 0.25 0.23 0.27 0.2 0.2205 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.105477 NA NA 0.214302 0.184975 NA 0.246 NA 5.9942646 1061 3 105439026 105439026 G A exonic CBLB NA synonymous SNV CBLB:NM_170662:exon10:c.C1272T:p.D424D exonic ENSG00000114423 NA synonymous SNV ENSG00000114423:ENST00000264122:exon10:c.C1272T:p.D424D,ENSG00000114423:ENST00000394027:exon10:c.C1338T:p.D446D,ENSG00000114423:ENST00000403724:exon10:c.C1272T:p.D424D,ENSG00000114423:ENST00000405772:exon10:c.C1272T:p.D424D Score=479;Name=lod=118 NA 3q13.11 NA NA NA NA rs2305035 0.24 0.24 0.236 0.210064 0.2376 0.2183 0.2983 0.1929 0.1339 0.25 0.23 0.27 0.2 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 1.12215 NA NA 0.214535 0.184294 NA 0.254 NA 5.9941316 1061 17 80438890 80438890 C G intronic NARF NA NA NA intronic ENSG00000141562 NA NA NA NA NA 17q25.3 NA Name=CTCF,CTCF_(C-20),Rad21 Name=23 NA rs151117894 0.0027 0.0027 0.003 0.00399361 0.006 NA 0.0043 NA 0.0112 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 -0.659104 NA NA NA NA NA NA NA 5.994 1061 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 1061 17 3422032 3422032 G A exonic TRPV3 NA synonymous SNV TRPV3:NM_001258205:exon15:c.C1923T:p.D641D,TRPV3:NM_145068:exon15:c.C1923T:p.D641D exonic ENSG00000167723 NA synonymous SNV ENSG00000167723:ENST00000301365:exon15:c.C1923T:p.D641D,ENSG00000167723:ENST00000572519:exon15:c.C1923T:p.D641D,ENSG00000167723:ENST00000576742:exon15:c.C1923T:p.D641D Score=594;Name=lod=346 NA 17p13.2 Score=824;Name=V$ER_Q6 NA NA NA rs7216486 0.65 0.65 0.658 0.66893 0.5517 0.9524 0.5994 0.5219 0.7454 0.54 0.95 0.56 0.52 0.5999 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.080722 NA NA 0.521279 0.545393 NA 0.667 NA 5.9937876 1061 14 50769717 50769717 G A exonic L2HGDH NA synonymous SNV L2HGDH:NM_024884:exon2:c.C159T:p.I53I exonic ENSG00000087299 NA synonymous SNV ENSG00000087299:ENST00000261699:exon2:c.C159T:p.I53I,ENSG00000087299:ENST00000267436:exon2:c.C159T:p.I53I,ENSG00000087299:ENST00000421284:exon2:c.C159T:p.I53I,ENSG00000087299:ENST00000555423:exon2:c.C159T:p.I53I,ENSG00000087299:ENST00000555610:exon2:c.C159T:p.I53I Score=428;Name=lod=73 NA 14q21.3 Score=936;Name=V$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 1061 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 1061 7 149519184 149519184 C T exonic SSPO NA nonsynonymous SNV SSPO:NM_198455:exon90:c.C12988T:p.R4330C ncRNA_exonic ENSG00000197558 NA NA NA Score=381;Name=lod=47 NA 7q36.1 NA NA NA NA rs1008336 0.17 0.17 0.145 0.178315 0.1561 0.1736 0.196 0.1581 0.2209 0.15 0.19 0.2 0.13 0.184 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059941 NA 0.08 0.166829 0.149054 NA 0.123 NA 5.993071 1061 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 1061 11 8977830 8977830 A G exonic TMEM9B NA synonymous SNV TMEM9B:NM_020644:exon3:c.T213C:p.V71V exonic ENSG00000175348 NA synonymous SNV ENSG00000175348:ENST00000534025:exon3:c.T213C:p.V71V Score=503;Name=lod=148 NA 11p15.4 NA NA NA NA rs2568068 0.32 0.32 0.327 0.334864 0.2097 0.4494 0.2363 0.4395 0.274 0.21 0.45 0.25 0.39 0.2564 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.377822 1.377822 NA 0.208217 0.378692 NA 0.203 NA 5.9923496 1061 2 206592695 206592695 T C exonic NRP2 NA synonymous SNV NRP2:NM_003872:exon7:c.T1071C:p.Y357Y,NRP2:NM_018534:exon7:c.T1071C:p.Y357Y,NRP2:NM_201264:exon7:c.T1071C:p.Y357Y,NRP2:NM_201266:exon7:c.T1071C:p.Y357Y,NRP2:NM_201267:exon7:c.T1071C:p.Y357Y,NRP2:NM_201279:exon7:c.T1071C:p.Y357Y exonic ENSG00000118257 NA synonymous SNV ENSG00000118257:ENST00000272849:exon7:c.T1071C:p.Y357Y,ENSG00000118257:ENST00000355117:exon7:c.T1071C:p.Y357Y,ENSG00000118257:ENST00000357118:exon7:c.T1071C:p.Y357Y,ENSG00000118257:ENST00000357785:exon7:c.T1071C:p.Y357Y,ENSG00000118257:ENST00000360409:exon7:c.T1071C:p.Y357Y,ENSG00000118257:ENST00000412873:exon7:c.T1071C:p.Y357Y,ENSG00000118257:ENST00000540178:exon7:c.T1071C:p.Y357Y,ENSG00000118257:ENST00000540841:exon7:c.T1071C:p.Y357Y,ENSG00000118257:ENST00000417189:exon8:c.T1071C:p.Y357Y Score=603;Name=lod=378 NA 2q33.3 Score=880;Name=V$CDC5_01 NA NA NA rs849526 0.52 0.52 0.449 0.517572 0.5636 0.8075 0.5533 0.0756 0.7434 0.58 0.79 0.55 0.08 0.5702 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71891 NA NA 0.541163 0.157512 NA 0.536 NA 5.9917036 1061 2 128400608 128400608 C T exonic LIMS2 NA synonymous SNV LIMS2:NM_001161403:exon5:c.G399A:p.K133K,LIMS2:NM_001161404:exon5:c.G384A:p.K128K,LIMS2:NM_017980:exon5:c.G471A:p.K157K,LIMS2:NM_001136037:exon6:c.G465A:p.K155K exonic ENSG00000072163 NA synonymous SNV ENSG00000072163:ENST00000324938:exon5:c.G471A:p.K157K,ENSG00000072163:ENST00000355119:exon5:c.G399A:p.K133K,ENSG00000072163:ENST00000409455:exon5:c.G384A:p.K128K,ENSG00000072163:ENST00000410011:exon5:c.G384A:p.K128K,ENSG00000072163:ENST00000545738:exon6:c.G465A:p.K155K,ENSG00000072163:ENST00000409808:exon7:c.G384A:p.K128K Score=621;Name=lod=444 NA 2q14.3 Score=850;Name=V$HNF4_01 NA NA NA rs4662751 0.6 0.6 0.572 0.545128 0.5427 0.7113 0.6527 0.4743 0.3957 0.54 0.73 0.63 0.5 0.6034 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 1.047885 NA NA 0.528987 0.462135 NA 0.63 NA 5.9915796 1061 14 24657650 24657650 C T intronic IPO4 NA NA NA intronic ENSG00000196497,ENSG00000259522 NA NA NA NA NA 14q12 NA Name=Ini1,Pol2,HEY1,Pol2-4H8,TAF1,c-Myc,Max,TBP Name=66 NA rs201942934 0.0009 0.0009 NA 0.00119808 0.002 NA 0.0014 NA 0.0031 0.0026 NA NA NA 0.003 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 1.125661 NA NA 0.003472 0.000246 NA 0.007 NA 5.991528 1061 1 203667409 203667409 T C exonic ATP2B4 NA synonymous SNV ATP2B4:NM_001001396:exon3:c.T318C:p.L106L,ATP2B4:NM_001684:exon3:c.T318C:p.L106L exonic ENSG00000058668 NA synonymous SNV ENSG00000058668:ENST00000341360:exon2:c.T318C:p.L106L,ENSG00000058668:ENST00000357681:exon3:c.T318C:p.L106L,ENSG00000058668:ENST00000367218:exon3:c.T318C:p.L106L,ENSG00000058668:ENST00000367219:exon3:c.T318C:p.L106L,ENSG00000058668:ENST00000391954:exon3:c.T318C:p.L106L Score=582;Name=lod=310 NA 1q32.1 Score=839;Name=V$AHRARNT_01 NA Name=3 NA rs2228445 0.88 0.88 0.861 0.859824 0.8976 0.999 0.9395 0.6725 0.8742 0.89 1 0.93 0.67 0.8801 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.140784 NA NA 0.897558 0.741943 NA 0.833 NA 5.9914086 1061 2 220427395 220427395 G A exonic OBSL1 NA synonymous SNV OBSL1:NM_001173408:exon8:c.C2682T:p.D894D,OBSL1:NM_001173431:exon8:c.C2682T:p.D894D,OBSL1:NM_015311:exon8:c.C2682T:p.D894D exonic ENSG00000124006 NA synonymous SNV ENSG00000124006:ENST00000265318:exon8:c.C2682T:p.D894D,ENSG00000124006:ENST00000289656:exon8:c.C1443T:p.D481D,ENSG00000124006:ENST00000373873:exon8:c.C2682T:p.D894D,ENSG00000124006:ENST00000373876:exon8:c.C2682T:p.D894D,ENSG00000124006:ENST00000404537:exon8:c.C2682T:p.D894D,ENSG00000124006:ENST00000603926:exon8:c.C2682T:p.D894D Score=340;Name=lod=32 NA 2q35 NA NA NA NA rs3183099 0.2 0.2 0.168 0.164137 0.2386 0.2123 0.2608 0.0772 0.0869 0.24 0.21 0.27 0.08 0.2028 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.394854 NA NA 0.234521 0.108522 NA 0.109 NA 5.9907456 1061 6 155577610 155577610 C T UTR3 TFB1M NM_016020:c.*1360G>A NA NA exonic ENSG00000146426 NA synonymous SNV ENSG00000146426:ENST00000528391:exon22:c.C2493T:p.L831L NA NA 6q25.3 NA NA Name=24 NA rs148747302 0.0018 0.0018 0 0.000998403 0.005 NA NA NA NA 0.01 NA NA NA 0.0016 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.927426 1.927426 NA 0.002791 0 ID=COSM1267837;OCCURENCE=1(oesophagus) NA NA 5.990609 1061 20 62595169 62595169 A G exonic ZNF512B NA synonymous SNV ZNF512B:NM_020713:exon9:c.T1578C:p.L526L exonic ENSG00000196700 NA synonymous SNV ENSG00000196700:ENST00000217130:exon9:c.T1578C:p.L526L,ENSG00000196700:ENST00000369888:exon9:c.T1578C:p.L526L,ENSG00000196700:ENST00000450537:exon9:c.T1578C:p.L526L Score=531;Name=lod=191 NA 20q13.33 Score=777;Name=V$MYCMAX_03 NA NA NA rs817325 0.44 0.44 0.448 0.492412 0.5696 0.0546 0.4294 0.7549 0.5542 0.57 0.06 0.43 0.71 0.5364 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 0.86132 NA NA 0.570349 0.733318 NA 0.471 NA 5.9903176 1061 X 57313357 57313357 T C exonic FAAH2 NA synonymous SNV FAAH2:NM_174912:exon1:c.T99C:p.G33G exonic ENSG00000165591 NA synonymous SNV ENSG00000165591:ENST00000374900:exon1:c.T99C:p.G33G NA NA Xp11.21 NA Name=CTCF,Pol2,HA-E2F1,HEY1,TAF1,TCF4 NA NA rs2516023 0.45 0.45 0.46502 NA NA NA NA NA NA 0.24 0.33 0.45 0.92 0.41 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 -1.422745 NA NA 0.26635 0.881617 NA 0.428 NA 5.9903166 1061 2 220435034 220435034 A G exonic OBSL1 NA synonymous SNV OBSL1:NM_001173408:exon1:c.T921C:p.L307L,OBSL1:NM_001173431:exon1:c.T921C:p.L307L,OBSL1:NM_015311:exon1:c.T921C:p.L307L exonic ENSG00000124006 NA synonymous SNV ENSG00000124006:ENST00000265318:exon1:c.T921C:p.L307L,ENSG00000124006:ENST00000373873:exon1:c.T921C:p.L307L,ENSG00000124006:ENST00000373876:exon1:c.T921C:p.L307L,ENSG00000124006:ENST00000404537:exon1:c.T921C:p.L307L,ENSG00000124006:ENST00000603926:exon1:c.T921C:p.L307L Score=623;Name=lod=455 NA 2q35 NA Name=CtBP2 Name=56 NA rs10180675 0.82 0.82 0.785 0.783347 0.9076 0.9028 0.8242 0.5507 0.818 0.91 0.89 0.85 0.58 0.8644 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 1.751989 1.751989 NA 0.904368 0.651412 NA 0.826 NA 5.9902986 1061 19 15490485 15490485 C T intronic AKAP8 NA NA NA ncRNA_exonic ENSG00000268189 NA NA NA NA NA 19p13.12 NA Name=Oct-2,Max,YY1_(C-20),Sin3Ak-20,NF-YB,c-Fos,Pol2(b),CCNT2,TBP,CHD2_(N-1250),HA-E2F1,Pol2,Pol2(phosphoS2),POU2F2,E2F6_(H-50),TAF7_(SQ-8),Pol2-4H8,TAF1,HMGN3,BCL3,NF-YA,HEY1 Name=89 NA rs57295859 0.17 0.17 0.154 0.149361 0.0944 0.3998 0.1801 0.0045 0.1217 0.1 0.43 0.16 0.01 0.1372 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.05409 NA NA 0.111512 0.022045 NA 0.08 NA 5.9902213 1061 4 46086060 46086060 T C exonic GABRG1 NA synonymous SNV GABRG1:NM_173536:exon3:c.A264G:p.T88T exonic ENSG00000163285 NA synonymous SNV ENSG00000163285:ENST00000295452:exon3:c.A264G:p.T88T Score=574;Name=lod=288 NA 4p12 Score=927;Name=V$MSX1_01 NA NA NA rs976156 0.55 0.55 0.521 0.508986 0.5517 0.3304 0.562 0.7209 0.3252 0.57 0.34 0.59 0.73 0.5726 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 0.068909 NA NA 0.552307 0.700091 ID=COSM149669;OCCURENCE=1(stomach) 0.688 NA 5.9900596 1061 16 83983071 83983071 C T intergenic MLYCD,OSGIN1 dist=33284;dist=3756 NA NA exonic ENSG00000140961 NA nonsynonymous SNV ENSG00000140961:ENST00000343939:exon1:c.C17T:p.P6L,ENSG00000140961:ENST00000561552:exon4:c.C155T:p.P52L NA NA 16q23.3 NA NA NA NA rs4782865 0.61 0.61 0.577 0.571885 0.6332 0.8056 0.6383 0.2912 0.6002 0.63 0.79 0.66 0.33 0.6083 0.79 1 T 0.074 B 0.008 B . . 1.000 P 0 N 2.82 T -0.983 T 0.000 T 0.119 1.117 9.556 -3.86 -0.851 -2.136 5.110 1.11716 NA 1 0.601977 0.331213 NA 0.609 NA 5.9898564 1061 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 1061 3 105260518 105260518 G A exonic ALCAM NA synonymous SNV ALCAM:NM_001243280:exon8:c.G900A:p.L300L,ALCAM:NM_001243281:exon8:c.G900A:p.L300L,ALCAM:NM_001627:exon8:c.G900A:p.L300L exonic ENSG00000170017 NA synonymous SNV ENSG00000170017:ENST00000306107:exon8:c.G900A:p.L300L,ENSG00000170017:ENST00000472644:exon8:c.G900A:p.L300L,ENSG00000170017:ENST00000486979:exon8:c.G747A:p.L249L Score=600;Name=lod=367 NA 3q13.11 NA NA NA NA rs579565 0.23 0.23 0.216 0.236821 0.2366 0.1548 0.3084 0.3041 0.18 0.23 0.15 0.3 0.28 0.2197 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.078265 NA NA 0.221279 0.285974 NA 0.319 NA 5.9890876 1061 3 113222036 113222036 G A exonic SPICE1 NA synonymous SNV SPICE1:NM_144718:exon3:c.C138T:p.P46P exonic ENSG00000163611 NA synonymous SNV ENSG00000163611:ENST00000295872:exon3:c.C138T:p.P46P,ENSG00000163611:ENST00000480527:exon3:c.C138T:p.P46P,ENSG00000163611:ENST00000495812:exon3:c.C138T:p.P46P Score=522;Name=lod=177 NA 3q13.2 NA NA NA NA rs11537650 0.24 0.24 0.257 0.244209 0.2286 0.2212 0.1427 0.3684 0.1881 0.22 0.19 0.17 0.36 0.2205 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.61328 NA NA 0.229356 0.351339 NA 0.239 NA 5.9882106 1061 19 49310251 49310251 T C intronic BCAT2 NA NA NA intronic ENSG00000105552 NA NA NA Score=369;Name=lod=42 NA 19q13.33 NA Name=BAF170 NA NA rs77119210 0.0023 0.0023 0.001 0.00139776 0.005 0.001 NA 0.0008 NA 0.01 NA NA 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 1.966984 1.966984 NA 0.00407 0.000454 NA NA NA 5.98813 1061 11 66297363 66297363 C T exonic BBS1 NA synonymous SNV BBS1:NM_024649:exon14:c.C1413T:p.L471L exonic ENSG00000174483,ENSG00000256349 NA synonymous SNV ENSG00000174483:ENST00000455748:exon10:c.C1122T:p.L374L,ENSG00000174483:ENST00000393994:exon11:c.C1026T:p.L342L,ENSG00000174483:ENST00000318312:exon14:c.C1413T:p.L471L,ENSG00000256349:ENST00000419755:exon14:c.C1524T:p.L508L Score=527;Name=lod=184 NA 11q13.2 NA NA NA NA rs3816492 0.17 0.17 0.125 0.143371 0.2396 0.1548 0.1441 0.0136 0.2076 0.26 0.16 0.18 0.02 0.2089 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.21464 NA NA 0.230268 0.047955 NA 0.152 NA 5.9878986 1061 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 1061 20 25388554 25388554 C T intronic GINS1 NA NA NA intronic ENSG00000101003 NA NA NA NA NA 20p11.21 Score=858;Name=V$AHRARNT_01 Name=YY1_(C-20),c-Myc,Pol2(b),YY1,E2F6,E2F6_(H-50),Pol2,HA-E2F1 NA NA rs146938490 0.0023 0.0023 0.002 0.00239617 0.005 NA NA NA 0.0072 0.01 NA NA NA 0.0041 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.249681 NA NA 0.003605 0.001362 NA NA NA 5.987295 1061 1 16056364 16056364 G A exonic PLEKHM2 NA synonymous SNV PLEKHM2:NM_015164:exon14:c.G2148A:p.T716T exonic ENSG00000116786 NA synonymous SNV ENSG00000116786:ENST00000375793:exon13:c.G2088A:p.T696T,ENSG00000116786:ENST00000375799:exon14:c.G2148A:p.T716T NA NA 1p36.21 Score=716;Name=V$HOX13_01 NA NA NA rs3817269 0.29 0.29 0.321 0.306709 0.2087 0.0437 0.2565 0.711 0.1677 0.2 0.05 0.29 0.7 0.2415 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 0.919334 NA NA 0.229207 0.617707 NA 0.348 NA 5.9872596 1061 1 53535478 53535478 G A exonic PODN NA nonsynonymous SNV PODN:NM_001199082:exon2:c.G95A:p.R32H,PODN:NM_153703:exon2:c.G95A:p.R32H,PODN:NM_001199081:exon3:c.G38A:p.R13H,PODN:NM_001199080:exon4:c.G38A:p.R13H exonic ENSG00000174348 NA nonsynonymous SNV ENSG00000174348:ENST00000312553:exon2:c.G95A:p.R32H,ENSG00000174348:ENST00000395871:exon2:c.G95A:p.R32H,ENSG00000174348:ENST00000371500:exon4:c.G38A:p.R13H NA NA 1p32.3 NA NA NA NA rs1288386 0.38 0.38 0.356 0.357428 0.4254 0.5536 0.3444 0.1241 0.41 0.43 0.55 0.36 0.13 0.501 0.55 0.35 T 0.345 B 0.02 B . . 1.000 P . . 0.81 T -0.907 T 0.000 T 0.034 0.968 8.949 1.03 0.403 -0.199 4.504 0.967718 NA 0 0.420114 0.184543 NA 0.493 NA 5.9868194 1061 X 152610985 152610985 T C exonic ZNF275 NA synonymous SNV ZNF275:NM_001080485:exon3:c.T39C:p.P13P exonic ENSG00000063587 NA synonymous SNV ENSG00000063587:ENST00000370251:exon3:c.T39C:p.P13P,ENSG00000063587:ENST00000421401:exon3:c.T39C:p.P13P,ENSG00000063587:ENST00000440091:exon3:c.T129C:p.P43P Score=309;Name=lod=24 NA Xq28 NA NA NA NA rs3213466 0.45 0.45 0.46343 NA NA NA NA NA NA 0.32 0.53 0.37 0.63 0.3735 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508659 NA NA 0.306535 0.577181 NA 0.457 NA 5.9866316 1061 18 52605188 52605188 C T exonic CCDC68 NA synonymous SNV CCDC68:NM_001143829:exon5:c.G345A:p.K115K,CCDC68:NM_025214:exon5:c.G345A:p.K115K exonic ENSG00000166510 NA synonymous SNV ENSG00000166510:ENST00000432185:exon4:c.G345A:p.K115K,ENSG00000166510:ENST00000337363:exon5:c.G345A:p.K115K,ENSG00000166510:ENST00000591504:exon5:c.G345A:p.K115K Score=403;Name=lod=58 NA 18q21.2 NA NA NA NA rs1344011 0.19 0.19 0.178 0.177915 0.2455 0.3036 0.1542 0.0106 0.2219 0.24 0.28 0.19 0.02 0.2048 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.787793 1.787793 NA 0.230116 0.046754 NA 0.094 NA 5.9862506 1061 13 39613443 39613443 T A intronic NHLRC3 NA NA NA intronic ENSG00000188811 NA NA NA NA NA 13q13.3 NA Name=FOXA2_(SC-6554),FOXA1_(SC-101058),FOXA1_(C-20) Name=13 NA rs201721617 0.0027 0.0027 NA 0.00179712 0.006 NA 0.0014 NA 0.002 0.01 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 -0.326448 NA NA 0.003953 0.000227 NA 0.007 NA 5.986147 1061 8 144681777 144681777 G T exonic TIGD5 NA nonsynonymous SNV TIGD5:NM_032862:exon1:c.G1704T:p.M568I exonic ENSG00000179886 NA nonsynonymous SNV ENSG00000179886:ENST00000321385:exon1:c.G1557T:p.M519I,ENSG00000179886:ENST00000504548:exon1:c.G1704T:p.M568I NA NA 8q24.3 NA NA NA NA rs10282929 0.61 0.61 0.54 0.59984 0.7992 0.5109 0.719 0.3986 0.6738 0.8 0.47 0.78 0.37 0.7448 0.8 0.21 T 0.0 B 0.0 B 0.766 N 1.000 P 0.205 N 1.7 T -1.008 T 0.000 T 0.013 -0.299 2.572 -2.06 -0.758 -0.142 3.518 -0.299412 NA 0.21 0.803576 0.474444 ID=COSM454154;OCCURENCE=1(breast) 0.601 NA 5.9857574 1061 2 85553784 85553784 C T exonic TGOLN2 NA synonymous SNV TGOLN2:NM_001206841:exon2:c.G1071A:p.G357G,TGOLN2:NM_006464:exon2:c.G1071A:p.G357G,TGOLN2:NM_001206844:exon3:c.G897A:p.G299G exonic ENSG00000152291 NA synonymous SNV ENSG00000152291:ENST00000377386:exon2:c.G1071A:p.G357G,ENSG00000152291:ENST00000409015:exon2:c.G1071A:p.G357G,ENSG00000152291:ENST00000409232:exon2:c.G1071A:p.G357G,ENSG00000152291:ENST00000444342:exon2:c.G1071A:p.G357G,ENSG00000152291:ENST00000398263:exon3:c.G897A:p.G299G,ENSG00000152291:ENST00000282120:exon4:c.G603A:p.G201G NA NA 2p11.2 NA Name=Oct-2,TAL1_(SC-12984),YY1_(C-20),YY1,Pol2,POU2F2,TAF1 Name=78 NA rs1044973 0.64 0.64 0.613 0.658746 0.5348 0.875 0.7205 0.5522 0.6636 0.53 0.86 0.68 0.54 0.6046 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 0.858354 NA NA 0.54204 0.575184 NA 0.565 NA 5.9852266 1062 8 82670316 82670316 T C intronic CHMP4C NA NA NA intronic ENSG00000164695 NA NA NA Score=536;Name=lod=202 NA 8q21.13 Score=747;Name=V$STAT5A_02 NA NA NA rs148271967 0.01 0.01 0.004 0.00479233 0.0159 NA 0.0058 0.0023 0.001 0.02 NA 0.01 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.044269 4.044269 NA NA NA NA 0.007 NA 5.9841 1062 22 50278568 50278568 A G exonic ZBED4 NA nonsynonymous SNV ZBED4:NM_014838:exon2:c.A1258G:p.I420V exonic ENSG00000100426 NA nonsynonymous SNV ENSG00000100426:ENST00000216268:exon2:c.A1258G:p.I420V NA NA 22q13.33 NA NA NA NA rs910799 0.66 0.66 0.604 0.617812 0.8022 0.8264 0.8242 0.1831 0.6544 0.79 0.81 0.81 0.18 0.7499 0.81 0.99 T 0.0 B 0.0 B 0.807 N 1.000 P 0.41 N 0.98 T -0.932 T 0.000 T 0.007 -1.644 0.013 0.478 0.044 1.047 2.017 -1.643533 NA 1 0.797442 0.293236 NA 0.522 NA 5.9837914 1062 14 20916958 20916958 T C exonic OSGEP NA synonymous SNV OSGEP:NM_017807:exon6:c.A570G:p.L190L exonic ENSG00000092094 NA synonymous SNV ENSG00000092094:ENST00000554249:exon2:c.A24G:p.L8L,ENSG00000092094:ENST00000555223:exon5:c.A24G:p.L8L,ENSG00000092094:ENST00000206542:exon6:c.A570G:p.L190L Score=635;Name=lod=510 NA 14q11.2 Score=785;Name=V$MEIS1AHOXA9_01 NA NA NA rs938883 0.53 0.53 0.526 0.495607 0.5835 0.4276 0.4121 0.5613 0.4458 0.58 0.42 0.48 0.61 0.5355 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.445547 1.445547 NA 0.564186 0.544258 ID=COSM147732;OCCURENCE=1(stomach) 0.536 NA 5.9834806 1062 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$PAX5_01 NA NA NA rs4294629 0.38 0.38 0.358 0.379593 0.5915 0.0536 0.5259 0.3313 0.4591 0.58 0.05 0.51 0.35 0.5126 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732259 NA NA 0.579186 0.362914 NA 0.449 NA 5.9833806 1062 12 10150974 10150974 A G exonic CLEC1B NA nonsynonymous SNV CLEC1B:NM_016509:exon2:c.T70C:p.S24P exonic ENSG00000165682 NA nonsynonymous SNV ENSG00000165682:ENST00000298527:exon2:c.T70C:p.S24P NA NA 12p13.2 NA NA NA NA rs2273986 0.41 0.41 0.397 0.402157 0.492 0.3363 0.4265 0.469 0.2699 0.48 0.3 0.41 0.44 0.4171 0.48 1 T 0.0 B 0.0 B 0.003 N 1.000 P -1.56 N 4.92 T -1.014 T 0.000 T 0.011 -1.503 0.017 1.28 -0.334 -0.653 4.014 -1.503403 NA 0.46 0.440925 0.420552 NA 0.42 NA 5.9833084 1062 7 65904274 65904274 T C intergenic LINC00174,LOC493754 dist=38879;dist=114279 NA NA ncRNA_exonic ENSG00000230189 NA NA NA Score=625;Name=lod=464 NA 7q11.21 NA NA Name=8 NA rs150544397 0.01 0.01 0.004 0.0091853 0.0169 NA 0.0014 0.0008 0.0276 0.02 NA 0.0028 0.002 NA 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.313197 4.313197 NA NA NA NA NA NA 5.9831 1062 11 403980 403980 G A exonic PKP3 NA synonymous SNV PKP3:NM_007183:exon11:c.G2115A:p.P705P exonic ENSG00000184363 NA synonymous SNV ENSG00000184363:ENST00000331563:exon11:c.G2115A:p.P705P Score=522;Name=lod=177 NA 11p15.5 Score=798;Name=V$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 1062 19 17337555 17337555 C A exonic OCEL1 NA synonymous SNV OCEL1:NM_024578:exon2:c.C123A:p.T41T exonic ENSG00000099330 NA synonymous SNV ENSG00000099330:ENST00000215061:exon2:c.C123A:p.T41T,ENSG00000099330:ENST00000601529:exon2:c.C123A:p.T41T NA NA 19p13.11 NA Name=HEY1,TAF1,Pol2-4H8,E2F6,E2F6_(H-50),GTF2B,Pol2,HA-E2F1,CHD2_(N-1250),TBP,Egr-1,ZBTB7A_(SC-34508),PAX5-C20 NA NA rs3745163 0.26 0.26 0.233 0.228834 0.2018 0.4018 0.2522 0.1702 0.1411 0.21 0.39 0.24 0.21 0.2959 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.681268 1.681268 NA 0.186452 0.156301 NA 0.138 NA 5.9825146 1062 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 1062 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 1062 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 1062 20 40714479 40714479 G A exonic PTPRT NA synonymous SNV PTPRT:NM_007050:exon28:c.C3861T:p.Y1287Y,PTPRT:NM_133170:exon29:c.C3918T:p.Y1306Y exonic ENSG00000196090 NA synonymous SNV ENSG00000196090:ENST00000373201:exon27:c.C3831T:p.Y1277Y,ENSG00000196090:ENST00000356100:exon28:c.C3888T:p.Y1296Y,ENSG00000196090:ENST00000373184:exon28:c.C3891T:p.Y1297Y,ENSG00000196090:ENST00000373187:exon28:c.C3861T:p.Y1287Y,ENSG00000196090:ENST00000373190:exon28:c.C3858T:p.Y1286Y,ENSG00000196090:ENST00000373193:exon28:c.C3870T:p.Y1290Y,ENSG00000196090:ENST00000373198:exon29:c.C3927T:p.Y1309Y Score=548;Name=lod=224 NA 20q12 NA NA NA NA rs2016647 0.16 0.16 0.155 0.14397 0.2425 0.0734 0.1671 0.115 0.138 0.23 0.07 0.21 0.12 0.1951 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.110862 NA NA 0.248489 0.133919 NA 0.174 NA 5.9805776 1062 6 56569104 56569104 A G exonic DST NA synonymous SNV DST:NM_183380:exon3:c.T217C:p.L73L,DST:NM_001144770:exon4:c.T337C:p.L113L,DST:NM_001144769:exon6:c.T751C:p.L251L exonic ENSG00000151914 NA synonymous SNV ENSG00000151914:ENST00000312431:exon3:c.T217C:p.L73L,ENSG00000151914:ENST00000361203:exon3:c.T217C:p.L73L,ENSG00000151914:ENST00000370769:exon3:c.T217C:p.L73L,ENSG00000151914:ENST00000370788:exon3:c.T217C:p.L73L,ENSG00000151914:ENST00000421834:exon3:c.T217C:p.L73L,ENSG00000151914:ENST00000522538:exon3:c.T70C:p.L24L,ENSG00000151914:ENST00000520645:exon4:c.T337C:p.L113L,ENSG00000151914:ENST00000523817:exon4:c.T196C:p.L66L,ENSG00000151914:ENST00000370754:exon6:c.T751C:p.L251L,ENSG00000151914:ENST00000449297:exon6:c.T751C:p.L251L Score=612;Name=lod=409 NA 6p12.1 NA NA NA NA rs16888128 0.18 0.18 0.186 0.164736 0.2207 0.0188 0.1542 0.3238 0.0501 0.22 0.02 0.17 0.33 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 1.126661 NA NA 0.198323 0.31735 NA 0.21 NA 5.9805436 1062 6 41773735 41773735 G A exonic USP49 NA synonymous SNV USP49:NM_018561:exon4:c.C987T:p.G329G exonic ENSG00000164663 NA synonymous SNV ENSG00000164663:ENST00000373009:exon1:c.C987T:p.G329G,ENSG00000164663:ENST00000297229:exon2:c.C987T:p.G329G,ENSG00000164663:ENST00000394253:exon3:c.C987T:p.G329G,ENSG00000164663:ENST00000373006:exon4:c.C987T:p.G329G,ENSG00000164663:ENST00000373010:exon6:c.C987T:p.G329G Score=383;Name=lod=48 NA 6p21.1 NA NA NA NA rs6926173 0.22 0.22 0.237 0.208666 0.2326 0.1567 0.1614 0.3003 0.1472 0.23 0.15 0.18 0.32 0.2159 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.360884 NA NA 0.237674 0.279392 NA 0.29 NA 5.9804926 1062 X 16168677 16168677 T C exonic GRPR NA synonymous SNV GRPR:NM_005314:exon2:c.T663C:p.I221I exonic ENSG00000126010 NA synonymous SNV ENSG00000126010:ENST00000380289:exon2:c.T663C:p.I221I Score=592;Name=lod=341 NA Xp22.2 NA NA NA NA rs4986946 0.35 0.35 0.37679 NA NA NA NA NA NA 0.34 0.14 0.34 0.62 0.3395 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 1.108303 NA NA 0.348246 0.661799 NA 0.312 NA 5.9789206 1062 16 3073225 3073225 G C intronic HCFC1R1 NA NA NA intronic ENSG00000103145 NA NA NA NA NA 16p13.3 NA Name=Pol2,Pol2(phosphoS2),Pol2-4H8 Name=104 NA rs150529156 0.01 0.01 0.001 0.00439297 0.0099 NA 0.0058 0.0008 0.0072 0.01 NA 0.01 NA 0.0067 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 -0.617121 NA NA 0.004767 0.00182 NA NA NA 5.978633 1062 19 55966332 55966332 T C intronic ISOC2 NA NA NA intronic ENSG00000063241 NA NA NA NA NA 19q13.42 NA Name=SMC3_(ab9263),Rad21,CTCF_(SC-5916),Znf143_(16618-1-AP),CTCF Name=77 NA rs183627719 0.0037 0.0037 NA 0.00279553 0.0089 NA 0.0029 NA 0.0031 0.01 NA 0.0028 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 0.282713 NA NA 0.007794 0.002501 NA NA NA 5.978606 1062 2 216908679 216908679 C T exonic PECR NA synonymous SNV PECR:NM_018441:exon7:c.G774A:p.S258S exonic ENSG00000115425 NA synonymous SNV ENSG00000115425:ENST00000265322:exon7:c.G774A:p.S258S Score=355;Name=lod=37 NA 2q35 NA NA NA NA rs2303842 0.15 0.15 0.139 0.140375 0.2346 0.12 0.1455 0.0431 0.1922 0.23 0.11 0.17 0.04 0.2037 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.353092 1.353092 NA 0.25 0.078756 ID=COSM149060;OCCURENCE=1(stomach) 0.167 NA 5.9783666 1062 7 73944185 73944185 T C exonic GTF2IRD1 NA synonymous SNV GTF2IRD1:NM_001199207:exon9:c.T1308C:p.Y436Y,GTF2IRD1:NM_005685:exon9:c.T1212C:p.Y404Y,GTF2IRD1:NM_016328:exon9:c.T1212C:p.Y404Y exonic ENSG00000006704 NA synonymous SNV ENSG00000006704:ENST00000265755:exon9:c.T1212C:p.Y404Y,ENSG00000006704:ENST00000424337:exon9:c.T1212C:p.Y404Y,ENSG00000006704:ENST00000455841:exon9:c.T1308C:p.Y436Y,ENSG00000006704:ENST00000476977:exon9:c.T1212C:p.Y404Y Score=614;Name=lod=417 NA 7q11.23 NA NA NA NA rs2240357 0.31 0.31 0.287 0.283347 0.2107 0.4663 0.2968 0.2466 0.2096 0.21 0.48 0.29 0.27 0.2462 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.128434 NA NA 0.231744 0.238311 NA 0.268 NA 5.9780226 1062 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 1062 1 150999737 150999737 A G exonic PRUNE NA synonymous SNV PRUNE:NM_021222:exon6:c.A708G:p.K236K exonic ENSG00000143363 NA synonymous SNV ENSG00000143363:ENST00000368934:exon3:c.A162G:p.K54K,ENSG00000143363:ENST00000368935:exon3:c.A12G:p.K4K,ENSG00000143363:ENST00000368937:exon3:c.A162G:p.K54K,ENSG00000143363:ENST00000271619:exon4:c.A231G:p.K77K,ENSG00000143363:ENST00000431193:exon4:c.A162G:p.K54K,ENSG00000143363:ENST00000450884:exon4:c.A162G:p.K54K,ENSG00000143363:ENST00000368936:exon5:c.A162G:p.K54K,ENSG00000143363:ENST00000271620:exon6:c.A708G:p.K236K Score=539;Name=lod=206 NA 1q21.3 NA NA NA NA rs11204762 0.28 0.28 0.264 0.275759 0.2107 0.4613 0.1974 0.2474 0.2454 0.22 0.44 0.19 0.28 0.253 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.048073 NA NA 0.225465 0.258738 NA 0.283 NA 5.9775016 1062 6 167754661 167754661 A G exonic TTLL2 NA nonsynonymous SNV TTLL2:NM_031949:exon3:c.A1273G:p.R425G exonic ENSG00000120440 NA nonsynonymous SNV ENSG00000120440:ENST00000239587:exon3:c.A1273G:p.R425G,ENSG00000120440:ENST00000515138:exon3:c.A1273G:p.R425G NA NA 6q27 NA NA NA NA rs909545 0.84 0.84 0.843 0.86222 0.7753 0.8294 0.8401 0.9758 0.8476 0.78 0.83 0.82 0.97 0.8078 0.97 0.26 T 0.005 B 0.001 B 0.766 N 1.000 P 0 N 4.21 T -0.930 T 0.002 T 0.047 1.442 10.76 2.4 0.545 0.319 9.101 1.441905 1.441905 0.11 0.772791 0.944394 NA 0.942 NA 5.9774424 1062 4 994452 994452 C T exonic IDUA NA synonymous SNV IDUA:NM_000203:exon3:c.C352T:p.L118L exonic ENSG00000127415 NA synonymous SNV ENSG00000127415:ENST00000453894:exon2:c.C211T:p.L71L,ENSG00000127415:ENST00000502910:exon2:c.C211T:p.L71L,ENSG00000127415:ENST00000509948:exon2:c.C145T:p.L49L,ENSG00000127415:ENST00000514192:exon2:c.C169T:p.L57L,ENSG00000127415:ENST00000247933:exon3:c.C352T:p.L118L NA NA 4p16.3 NA NA NA NA rs3755954 0.21 0.21 0.198 0.162141 0.2505 0.1478 0.2046 0.1626 0.0552 0.25 0.16 0.23 0.18 0.1976 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468895 NA NA 0.241279 0.195139 NA 0.355 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078392.1;CLNDSDB=.;CLNDSDBID=. 5.9772876 1062 11 64367862 64367862 T C exonic SLC22A12 NA synonymous SNV SLC22A12:NM_001276327:exon6:c.T985C:p.L329L,SLC22A12:NM_001276326:exon8:c.T1207C:p.L403L,SLC22A12:NM_144585:exon8:c.T1309C:p.L437L,SLC22A12:NM_153378:exon8:c.T646C:p.L216L exonic ENSG00000197891 NA synonymous SNV ENSG00000197891:ENST00000377572:exon6:c.T985C:p.L329L,ENSG00000197891:ENST00000377567:exon7:c.T985C:p.L329L,ENSG00000197891:ENST00000336464:exon8:c.T1207C:p.L403L,ENSG00000197891:ENST00000377574:exon8:c.T1309C:p.L437L,ENSG00000197891:ENST00000473690:exon8:c.T646C:p.L216L Score=405;Name=lod=59 NA 11q13.1 NA NA NA NA rs7932775 0.38 0.38 0.353 0.397364 0.2018 0.5129 0.255 0.674 0.2065 0.21 0.45 0.27 0.62 0.3033 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.342147 NA NA 0.185418 0.579727 NA 0.319 NA 5.9761486 1062 11 13984583 13984583 C T exonic SPON1 NA unknown UNKNOWN ncRNA_exonic ENSG00000152268 NA NA NA Score=666;Name=lod=680 NA 11p15.2 Score=852;Name=V$CHOP_01 NA NA NA rs3761859 0.21 0.21 0.207 0.238219 0.2346 0.1746 0.1628 0.2141 0.3937 0.24 0.17 0.2 0.21 0.3672 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.705854 1.705854 NA 0.255672 0.19714 NA 0.094 NA 5.9758613 1062 19 14492272 14492272 T C UTR5 CD97 NM_001784:c.-64T>C,NM_078481:c.-64T>C,NM_001025160:c.-64T>C NA NA UTR5 ENSG00000123146 ENST00000358600:c.-64T>C,ENST00000586517:c.-64T>C,ENST00000587606:c.-64T>C,ENST00000591080:c.-64T>C,ENST00000357355:c.-64T>C,ENST00000242786:c.-64T>C,ENST00000592261:c.-64T>C NA NA NA NA 19p13.12 NA Name=Pol2,ETS1,HEY1,GABP,Pol2-4H8,NFKB,TAF1,Sin3Ak-20,TCF4,Egr-1,TBP Name=146 NA rs2302996 0.27 0.27 0.199 0.332668 0.3579 0.1419 0.3588 0.4758 0.2914 0.31 0.11 0.31 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 0.028437 NA NA NA NA NA 0.261 NA 5.9754334 1063 14 21024619 21024619 A G exonic RNASE9 NA nonsynonymous SNV RNASE9:NM_001001673:exon2:c.T610C:p.S204P,RNASE9:NM_001110356:exon3:c.T610C:p.S204P,RNASE9:NM_001110357:exon3:c.T610C:p.S204P,RNASE9:NM_001110358:exon4:c.T625C:p.S209P,RNASE9:NM_001110360:exon4:c.T625C:p.S209P,RNASE9:NM_001110359:exon5:c.T625C:p.S209P,RNASE9:NM_001110361:exon5:c.T625C:p.S209P exonic ENSG00000188655 NA nonsynonymous SNV ENSG00000188655:ENST00000338904:exon2:c.T610C:p.S204P,ENSG00000188655:ENST00000429244:exon3:c.T610C:p.S204P,ENSG00000188655:ENST00000554964:exon3:c.T610C:p.S204P,ENSG00000188655:ENST00000555230:exon3:c.T610C:p.S204P,ENSG00000188655:ENST00000553541:exon4:c.T610C:p.S204P,ENSG00000188655:ENST00000556208:exon4:c.T625C:p.S209P,ENSG00000188655:ENST00000557068:exon4:c.T610C:p.S204P,ENSG00000188655:ENST00000557209:exon4:c.T625C:p.S209P,ENSG00000188655:ENST00000404716:exon5:c.T625C:p.S209P,ENSG00000188655:ENST00000553706:exon5:c.T625C:p.S209P NA Name=Prostate cancer (gene x gene interaction) 14q11.2 NA NA NA NA rs1243647 0.74 0.74 0.75 0.752995 0.7922 0.6607 0.6931 0.8011 0.7853 0.79 0.68 0.68 0.78 0.7735 0.8 1 T 0.0 B 0.0 B . . 1.000 P -0.805 N 2.45 T -0.995 T 0.000 T 0.039 -1.552 0.015 -1.08 -0.514 -0.272 3.661 -1.552402 NA 1 0.793023 0.797095 NA 0.812 NA 5.9746104 1063 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 1063 10 12149939 12149939 C T exonic DHTKD1 NA synonymous SNV DHTKD1:NM_018706:exon12:c.C2079T:p.I693I exonic ENSG00000181192 NA synonymous SNV ENSG00000181192:ENST00000263035:exon12:c.C2079T:p.I693I Score=540;Name=lod=209 NA 10p14 Score=746;Name=V$TCF11MAFG_01 NA Name=16 NA rs1722462 0.9 0.9 0.874 0.903155 0.9006 0.9821 0.938 0.8048 0.9325 0.9 0.97 0.93 0.78 0.9029 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 1.626547 1.626547 NA 0.888837 0.810713 NA 0.739 NA 5.9743296 1063 14 23518918 23518918 T C exonic CDH24 NA synonymous SNV CDH24:NM_144985:exon10:c.A1515G:p.R505R,CDH24:NM_022478:exon11:c.A1629G:p.R543R exonic ENSG00000139880 NA synonymous SNV ENSG00000139880:ENST00000554034:exon9:c.A1515G:p.R505R,ENSG00000139880:ENST00000267383:exon10:c.A1629G:p.R543R,ENSG00000139880:ENST00000487137:exon10:c.A1515G:p.R505R,ENSG00000139880:ENST00000397359:exon11:c.A1629G:p.R543R Score=393;Name=lod=53 NA 14q11.2 NA NA NA NA rs11623976 0.12 0.12 0.11 0.116613 0.2604 0.004 0.1398 0.0204 0.1984 0.25 NA 0.16 0.02 0.1917 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.097364 NA NA 0.240465 0.056514 NA 0.21 NA 5.9741016 1063 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 1063 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 1063 8 23167353 23167353 T G exonic LOXL2 NA nonsynonymous SNV LOXL2:NM_002318:exon10:c.A1708C:p.M570L exonic ENSG00000134013 NA nonsynonymous SNV ENSG00000134013:ENST00000389131:exon10:c.A1708C:p.M570L Score=630;Name=lod=483 NA 8p21.3 NA NA NA NA rs1063582 0.76 0.76 0.725 0.778954 0.8002 0.744 0.8242 0.674 0.9029 0.8 0.74 0.82 0.68 0.7877 0.82 0.99 T 0.0 B 0.009 B 0.000 N 0.479 P -0.245 N 1.65 T -0.972 T 0.000 T 0.163 1.401 10.62 -0.169 0.036 0.012 6.464 1.400809 1.400809 0.6 0.771744 0.685883 NA 0.71 NA 5.9736894 1063 19 14030689 14030689 T C exonic CC2D1A NA synonymous SNV CC2D1A:NM_017721:exon12:c.T1281C:p.G427G exonic ENSG00000132024 NA synonymous SNV ENSG00000132024:ENST00000318003:exon12:c.T1281C:p.G427G,ENSG00000132024:ENST00000589606:exon12:c.T1281C:p.G427G NA NA 19p13.12 NA NA NA NA rs10410239 0.39 0.39 0.374 0.421326 0.2078 0.3016 0.3256 0.8154 0.2996 0.21 0.31 0.34 0.78 0.2784 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 -0.737576 NA NA 0.206788 0.720814 NA 0.362 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116587.2;CLNDSDB=.;CLNDSDBID=. 5.9736786 1063 15 101924546 101924546 C T exonic PCSK6 NA unknown UNKNOWN exonic ENSG00000140479 NA synonymous SNV ENSG00000140479:ENST00000331826:exon8:c.G897A:p.V299V,ENSG00000140479:ENST00000344273:exon11:c.G1392A:p.V464V,ENSG00000140479:ENST00000348070:exon11:c.G1392A:p.V464V,ENSG00000140479:ENST00000358417:exon11:c.G1392A:p.V464V,ENSG00000140479:ENST00000398181:exon11:c.G1392A:p.V464V Score=461;Name=lod=100 NA 15q26.3 NA NA NA NA rs1135911 0.13 0.13 0.124 0.144569 0.1113 0.2371 0.1383 0.0605 0.2014 0.11 0.2 0.15 0.08 0.1362 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.111429 NA NA 0.112164 0.080831 NA 0.188 NA 5.9736693 1063 3 33138544 33138544 A G exonic GLB1 NA synonymous SNV GLB1:NM_000404:exon1:c.T34C:p.L12L,GLB1:NM_001135602:exon1:c.T34C:p.L12L exonic ENSG00000170266 NA synonymous SNV ENSG00000170266:ENST00000307363:exon1:c.T34C:p.L12L,ENSG00000170266:ENST00000307377:exon1:c.T34C:p.L12L,ENSG00000170266:ENST00000415454:exon1:c.T34C:p.L12L,ENSG00000170266:ENST00000436768:exon1:c.T34C:p.L12L,ENSG00000170266:ENST00000438227:exon1:c.T34C:p.L12L,ENSG00000170266:ENST00000445488:exon1:c.T34C:p.L12L NA NA 3p22.3 NA Name=GATA-1,HEY1,ELF1_(SC-631),Pol2-4H8,TAF1,Pol2,GTF2F1_(RAP-74),TBP,NRSF,Sin3Ak-20,TFIIIC-110 Name=147 NA rs7614776 0.93 0.93 0.928 0.927716 0.9026 1 0.9424 0.8684 0.9489 0.89 1 0.96 0.89 0.9052 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.749796 NA NA 0.885523 0.876371 NA NA CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078712.3;CLNDSDB=.;CLNDSDBID=. 5.9733436 1063 17 29151705 29151705 C T UTR5 CRLF3 NM_015986:c.-36G>A NA NA UTR5 ENSG00000176390 ENST00000324238:c.-36G>A NA NA NA NA 17q11.2 NA Name=E2F1,Pbx3,HEY1,ELF1_(SC-631),CTCF_(SC-5916),Pol2-4H8,GABP,NFKB,HMGN3,CTCF_(C-20),TAF1,E2F6_(H-50),CTCF,TAF7_(SQ-8),HA-E2F1,CHD2_(N-1250),Pol2(phosphoS2),Pol2,CTCFL_(SC-98982),SMC3_(ab9263),YY1,TBP,PAX5-C20,E2F4,Nrf1,Rad21,ZBTB33,YY1_(C-20) Name=148 NA rs3752019 0.13 0.13 0.115 0.143171 0.1093 0.1359 0.1902 0.0643 0.2587 0.1 0.16 0.18 0.09 0.1502 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.927021 1.927021 NA 0.101011 0.062163 NA 0.022 NA 5.9728224 1063 19 14492265 14492265 T C UTR5 CD97 NM_001784:c.-71T>C,NM_078481:c.-71T>C,NM_001025160:c.-71T>C NA NA UTR5 ENSG00000123146 ENST00000358600:c.-71T>C,ENST00000586517:c.-71T>C,ENST00000587606:c.-71T>C,ENST00000591080:c.-71T>C,ENST00000357355:c.-71T>C,ENST00000242786:c.-71T>C,ENST00000592261:c.-71T>C NA NA NA NA 19p13.12 NA Name=Egr-1,TBP,Sin3Ak-20,TCF4,ELF1_(SC-631),HEY1,ETS1,TAF1,NFKB,GABP,Pol2-4H8,Pol2 Name=146 NA rs2302997 0.28 0.28 0.216 0.343251 0.3608 0.1429 0.3631 0.5091 0.2935 0.31 0.11 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 1.138099 NA NA NA NA NA 0.268 NA 5.9725334 1063 8 11689119 11689119 G C exonic FDFT1 NA synonymous SNV FDFT1:NM_004462:exon7:c.G972C:p.L324L exonic ENSG00000079459 NA synonymous SNV ENSG00000079459:ENST00000525777:exon5:c.G717C:p.L239L,ENSG00000079459:ENST00000443614:exon6:c.G843C:p.L281L,ENSG00000079459:ENST00000528643:exon6:c.G717C:p.L239L,ENSG00000079459:ENST00000220584:exon7:c.G972C:p.L324L,ENSG00000079459:ENST00000525900:exon7:c.G951C:p.L317L,ENSG00000079459:ENST00000528812:exon7:c.G780C:p.L260L,ENSG00000079459:ENST00000530664:exon7:c.G780C:p.L260L,ENSG00000079459:ENST00000538689:exon7:c.G639C:p.L213L NA NA 8p23.1 Score=830;Name=V$BRN2_01 NA NA NA rs9205 0.31 0.31 0.277 0.306909 0.2097 0.7252 0.2824 0.084 0.2945 0.22 0.69 0.26 0.07 0.2751 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 0.579318 NA NA 0.209419 0.114843 NA 0.261 NA 5.9724476 1063 3 122680141 122680141 A G exonic SEMA5B NA synonymous SNV SEMA5B:NM_001256347:exon2:c.T132C:p.G44G exonic ENSG00000082684 NA synonymous SNV ENSG00000082684:ENST00000451055:exon2:c.T132C:p.G44G NA NA 3q21.1 NA NA Name=55 NA rs13094003 0.28 0.28 0.255 0.255192 0.2366 0.3512 0.268 0.2209 0.2127 0.24 0.4 0.27 0.23 0.2403 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06784 NA NA 0.217442 0.238992 ID=COSM328560;OCCURENCE=11(kidney) 0.261 NA 5.9723246 1063 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 1063 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 1063 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 1063 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=ZNF274,KAP1,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 1063 18 59768375 59768375 A G exonic PIGN NA synonymous SNV PIGN:NM_012327:exon21:c.T2010C:p.T670T,PIGN:NM_176787:exon22:c.T2010C:p.T670T exonic ENSG00000197563 NA synonymous SNV ENSG00000197563:ENST00000400334:exon21:c.T2010C:p.T670T,ENSG00000197563:ENST00000357637:exon22:c.T2010C:p.T670T Score=369;Name=lod=42 NA 18q21.33 NA NA NA NA rs17714063 0.12 0.12 0.114 0.095647 0.2694 0.0069 0.1239 0.0144 0.0982 0.26 0.0035 0.14 0.02 0.1763 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.859667 NA NA 0.249212 0.056992 NA 0.145 NA 5.9717546 1063 7 149521183 149521183 G A exonic SSPO NA nonsynonymous SNV SSPO:NM_198455:exon94:c.G13523A:p.R4508Q ncRNA_exonic ENSG00000197558 NA NA NA NA NA 7q36.1 NA Name=KAP1 NA NA rs4389841 0.15 0.15 0.121 0.148762 0.1551 0.1746 0.1873 0.0537 0.2168 0.15 0.19 0.19 0.05 0.2053 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 -0.253768 NA 1 0.168179 0.063862 NA 0.109 NA 5.971421 1063 16 3297175 3297175 T C exonic MEFV NA synonymous SNV MEFV:NM_001198536:exon4:c.A795G:p.Q265Q,MEFV:NM_000243:exon5:c.A1428G:p.Q476Q exonic ENSG00000103313 NA synonymous SNV ENSG00000103313:ENST00000536379:exon4:c.A795G:p.Q265Q,ENSG00000103313:ENST00000536980:exon4:c.A795G:p.Q265Q,ENSG00000103313:ENST00000541159:exon4:c.A795G:p.Q265Q,ENSG00000103313:ENST00000219596:exon5:c.A1428G:p.Q476Q,ENSG00000103313:ENST00000339854:exon5:c.A888G:p.Q296Q,ENSG00000103313:ENST00000537682:exon5:c.A1428G:p.Q476Q,ENSG00000103313:ENST00000542898:exon6:c.A1521G:p.Q507Q Score=369;Name=lod=42 NA 16p13.3 NA NA Name=5 NA rs224207 0.62 0.62 0.597 0.650559 0.5577 0.6528 0.6239 0.649 0.7648 0.56 0.65 0.62 0.69 0.6057 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 -0.756638 NA NA 0.532326 0.639508 NA 0.623 NA 5.9709406 1063 2 174128513 174128513 C T exonic ZAK NA nonsynonymous SNV ZAK:NM_016653:exon19:c.C1592T:p.S531L exonic ENSG00000091436 NA nonsynonymous SNV ENSG00000091436:ENST00000375213:exon19:c.C1592T:p.S531L,ENSG00000091436:ENST00000409176:exon19:c.C1592T:p.S531L NA NA 2q31.1 NA NA NA NA rs3769148 0.28 0.28 0.259 0.245407 0.4831 0.2123 0.2867 0.0219 0.3078 0.49 0.21 0.31 0.03 0.3871 0.49 0.35 T 0.002 B 0.0 B 0.759 N 1.000 P 0.345 N -0.98 T -0.955 T 0.000 T 0.041 0.655 7.512 0.342 -0.223 0.555 2.427 0.654931 NA 0 0.492356 0.094149 NA 0.268 NA 5.9707774 1063 19 58989495 58989495 A C exonic ZNF446 NA nonsynonymous SNV ZNF446:NM_017908:exon4:c.A574C:p.N192H exonic ENSG00000083838 NA nonsynonymous SNV ENSG00000083838:ENST00000335841:exon4:c.A574C:p.N192H,ENSG00000083838:ENST00000594369:exon4:c.A574C:p.N192H,ENSG00000083838:ENST00000596341:exon4:c.A574C:p.N192H NA NA 19q13.43 NA NA NA NA rs893185 0.46 0.46 0.474 0.440296 0.4702 0.3175 0.3545 0.6089 0.3691 0.47 0.31 0.38 0.67 0.4349 0.67 0.44 T 0.0 B 0.0 B 0.106 N 1.000 P -0.695 N 3.59 T -1.078 T 0.000 T 0.046 -0.468 1.839 1.05 0.087 0.137 3.402 -0.468001 NA 0.94 0.457558 0.61734 NA 0.471 NA 5.9706754 1063 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 1063 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 1063 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 1063 11 18955744 18955744 C T exonic MRGPRX1 NA synonymous SNV MRGPRX1:NM_147199:exon1:c.G588A:p.L196L exonic ENSG00000170255 NA synonymous SNV ENSG00000170255:ENST00000302797:exon1:c.G588A:p.L196L Score=251;Name=lod=14 NA 11p15.1 NA NA NA NA rs11599929 0.28 0.28 0.266 0.295327 0.2237 0.3879 0.2695 0.2769 0.317 0.23 0.38 0.27 0.27 0.2565 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11272 NA NA 0.217219 0.275524 ID=COSM147160;OCCURENCE=1(stomach) 0.203 NA 5.9692476 1063 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 1063 4 3944184 3944184 C T ncRNA_exonic FAM86EP NA NA NA ncRNA_exonic ENSG00000251271,ENSG00000251669 NA NA NA Score=497;Name=lod=139 NA 4p16.3 NA Name=SMC3_(ab9263),Rad21,CTCF NA NA rs34583792 0.63 0.63 0.63 0.617612 0.6978 0.4544 0.7651 0.6104 0.6084 0.7 0.45 0.74 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 -1.099297 NA NA NA NA NA 0.594 NA 5.9688666 1063 9 134350458 134350458 C T exonic PRRC2B NA nonsynonymous SNV PRRC2B:NM_013318:exon15:c.C2942T:p.P981L exonic ENSG00000130723 NA nonsynonymous SNV ENSG00000130723:ENST00000357304:exon15:c.C2942T:p.P981L NA NA 9q34.13 NA NA NA NA rs10751478 0.76 0.76 0.757 0.76877 0.7654 0.9395 0.7478 0.5227 0.9438 0.77 0.94 0.77 0.53 0.791 0.94 . . 0.0 B 0.0 B . . 1.000 P 0 N 4.68 T -1.018 T 0.000 T 0.054 -1.255 0.05 -10.7 -2.096 -0.817 3.428 -1.254689 NA 0.94 0.808214 0.601736 NA 0.739 NA 5.9687194 1063 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 1063 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 1063 11 57004344 57004344 G T exonic APLNR NA synonymous SNV APLNR:NM_005161:exon1:c.C135A:p.G45G exonic ENSG00000134817 NA synonymous SNV ENSG00000134817:ENST00000257254:exon1:c.C135A:p.G45G,ENSG00000134817:ENST00000606794:exon1:c.C135A:p.G45G Score=610;Name=lod=403 NA 11q12.1 Score=818;Name=V$AHRARNT_02 NA NA NA rs948847 0.58 0.58 0.552 0.584665 0.5577 0.7113 0.6412 0.3835 0.7137 0.58 0.7 0.61 0.42 0.5875 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 0.518922 NA NA 0.553073 0.442526 ID=COSM292362;OCCURENCE=1(large_intestine) 0.507 NA 5.9683936 1063 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 1063 6 31473546 31473546 A G exonic MICB NA nonsynonymous SNV MICB:NM_005931:exon2:c.A223G:p.N75D exonic ENSG00000204516 NA nonsynonymous SNV ENSG00000204516:ENST00000252229:exon2:c.A223G:p.N75D,ENSG00000204516:ENST00000399150:exon2:c.A223G:p.N75D,ENSG00000204516:ENST00000538442:exon2:c.A127G:p.N43D NA NA 6p21.33 NA NA NA NA rs3131639 0.83 0.83 0.82 0.851238 0.7684 0.9058 0.8646 0.8457 0.8783 0.76 0.9 0.85 0.85 0.8147 0.9 0.92 T 0.0 B 0.004 B 0.000 U 1.000 P . . 4.77 T -0.928 T 0.001 T 0.007 -1.895 0.008 -1.82 -1.478 -0.494 6.968 -1.895242 NA 1 0.782429 0.853468 NA 0.812 NA 5.9678044 1063 11 64876390 64876390 C T intronic VPS51 NA NA NA intronic ENSG00000149823 NA NA NA NA NA 11q13.1 NA Name=p300,Pol2,FOXA1_(C-20),ERalpha_a,GATA3_(SC-268),c-Myc Name=5 NA rs72932836 0.0046 0.0046 0.003 0.00459265 0.0099 NA 0.0101 0.0015 0.0041 0.01 NA 0.01 0.002 0.0086 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 -1.426784 NA NA 0.013711 0.002831 NA 0.007 NA 5.967789 1063 9 132400480 132400480 G A exonic ASB6 NA synonymous SNV ASB6:NM_001202403:exon5:c.C768T:p.A256A,ASB6:NM_017873:exon6:c.C855T:p.A285A exonic ENSG00000148331 NA synonymous SNV ENSG00000148331:ENST00000450050:exon5:c.C618T:p.A206A,ENSG00000148331:ENST00000277458:exon6:c.C855T:p.A285A NA NA 9q34.11 NA Name=Pol2(phosphoS2),Pol2 Name=8 NA rs3739851 0.49 0.49 0.476 0.461462 0.5567 0.5129 0.4899 0.3238 0.4765 0.57 0.51 0.5 0.32 0.5323 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.461229 NA NA 0.610233 0.368134 NA 0.355 NA 5.9674336 1063 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 1063 17 42852610 42852610 T C exonic ADAM11 NA synonymous SNV ADAM11:NM_002390:exon15:c.T1251C:p.C417C exonic ENSG00000073670 NA synonymous SNV ENSG00000073670:ENST00000587773:exon12:c.T933C:p.C311C,ENSG00000073670:ENST00000200557:exon15:c.T1251C:p.C417C,ENSG00000073670:ENST00000535346:exon15:c.T651C:p.C217C Score=644;Name=lod=552 NA 17q21.31 NA Name=ZNF263 Name=8 NA rs1558084 0.9 0.9 0.902 0.904952 0.9165 0.874 0.9496 0.9009 0.8988 0.91 0.86 0.95 0.9 0.8922 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 1.80581 1.80581 NA 0.891744 0.900817 NA 0.935 NA 5.9662226 1063 1 175335234 175335234 C T exonic TNR NA synonymous SNV TNR:NM_003285:exon11:c.G2094A:p.S698S exonic ENSG00000116147 NA synonymous SNV ENSG00000116147:ENST00000367674:exon11:c.G2094A:p.S698S,ENSG00000116147:ENST00000263525:exon12:c.G2094A:p.S698S NA NA 1q25.1 Score=752;Name=V$STAT5A_02 NA NA NA rs1385541 0.18 0.18 0.174 0.166134 0.2445 0.1042 0.1974 0.1483 0.1513 0.25 0.1 0.2 0.14 0.2131 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.926102 NA NA 0.242907 0.137086 NA 0.167 NA 5.9661596 1063 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 1063 3 52721238 52721238 G T intronic GNL3 NA NA NA intronic ENSG00000163938 NA NA NA NA NA 3p21.1 NA Name=ZNF263 Name=3 NA rs140310455 0.0041 0.0041 0.003 0.00299521 0.0139 NA NA 0.0008 NA 0.01 NA NA NA 0.01 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 -0.828662 NA NA 0.010589 0.001599 NA NA NA 5.965511 1063 2 211481257 211481257 C G exonic CPS1 NA synonymous SNV CPS1:NM_001122634:exon11:c.C1326G:p.G442G,CPS1:NM_001875:exon21:c.C2679G:p.G893G,CPS1:NM_001122633:exon22:c.C2697G:p.G899G exonic ENSG00000021826 NA synonymous SNV ENSG00000021826:ENST00000451903:exon11:c.C1326G:p.G442G,ENSG00000021826:ENST00000233072:exon21:c.C2679G:p.G893G,ENSG00000021826:ENST00000430249:exon22:c.C2697G:p.G899G Score=625;Name=lod=463 NA 2q34 NA NA NA NA rs2287599 0.6 0.6 0.627 0.649161 0.5537 0.5248 0.4885 0.9107 0.636 0.54 0.5 0.49 0.9 0.5861 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 0.404734 NA NA 0.561628 0.858602 NA 0.688 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000116831.2|RCV000124592.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.9652386 1063 18 29788107 29788107 G A exonic MEP1B NA synonymous SNV MEP1B:NM_005925:exon9:c.G792A:p.S264S exonic ENSG00000141434 NA synonymous SNV ENSG00000141434:ENST00000269202:exon9:c.G792A:p.S264S,ENSG00000141434:ENST00000581447:exon9:c.G792A:p.S264S NA NA 18q12.1 NA Name=HNF4A_(H-171),MafK_(SC-477),MafF_(M8194),MafK_(ab50322) NA NA rs4799640 0.21 0.21 0.213 0.230431 0.2207 0.126 0.1902 0.2814 0.3078 0.23 0.13 0.21 0.28 0.2371 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.115095 NA NA 0.243636 0.267127 NA 0.326 NA 5.9652306 1064 19 47774772 47774772 T C exonic CCDC9 NA nonsynonymous SNV CCDC9:NM_015603:exon12:c.T1433C:p.L478P exonic ENSG00000105321 NA nonsynonymous SNV ENSG00000105321:ENST00000221922:exon12:c.T1433C:p.L478P NA NA 19q13.32 NA NA NA NA rs888836 0.51 0.51 0.438 0.511981 0.4304 0.6825 0.5836 0.3396 0.6022 0.45 0.65 0.55 0.39 0.5011 0.65 0.67 T 0.0 B 0.0 B 0.204 N 1.000 P -1.79 N 1.97 T -0.999 T 0.000 T 0.038 -0.326 2.454 0.712 0.087 -0.293 2.676 -0.325757 NA 0.33 0.437093 0.317749 NA 0.457 NA 5.9647404 1064 11 5906048 5906048 G A exonic OR52E4 NA nonsynonymous SNV OR52E4:NM_001005165:exon1:c.G526A:p.V176I exonic ENSG00000180974 NA nonsynonymous SNV ENSG00000180974:ENST00000316987:exon1:c.G526A:p.V176I NA NA 11p15.4 NA NA NA NA rs4758168 0.81 0.81 0.809 0.779553 0.7992 0.8254 0.7536 0.8101 0.6892 0.83 0.82 0.78 0.8 0.7819 0.83 1 T 0.0 B 0.001 B 0.017 N 0.002 P -2.225 N 8.76 T -1.008 T 0.000 T 0.024 -0.596 1.333 4.02 0.428 0.141 7.947 -0.596124 NA 1 0.787593 0.81304 NA 0.812 NA 5.9646404 1064 11 5906073 5906073 G T exonic OR52E4 NA nonsynonymous SNV OR52E4:NM_001005165:exon1:c.G551T:p.R184M exonic ENSG00000180974 NA nonsynonymous SNV ENSG00000180974:ENST00000316987:exon1:c.G551T:p.R184M NA NA 11p15.4 NA NA NA NA rs4757986 0.81 0.81 0.787 0.780152 0.7992 0.8254 0.7536 0.8094 0.6933 0.83 0.82 0.78 0.8 0.782 0.83 1 T 0.0 B 0.0 B 0.000 N 0.001 P -3.005 N 8.71 T -0.984 T 0.000 T 0.064 -1.279 0.042 2.83 0.099 -0.287 5.944 -1.279207 NA 1 0.787709 0.812812 NA 0.812 NA 5.9644244 1064 14 105409907 105409907 T C exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.A11881G:p.M3961V exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.A11881G:p.M3961V NA NA 14q32.33 NA NA NA NA rs10141053 0.26 0.26 0.257 0.245807 0.4851 0.0863 0.2997 0.0635 0.3722 0.49 0.06 0.32 0.1 0.3986 0.49 1 T 0.001 B 0.002 B . . 1.000 P -1.76 N 5.91 T -1.031 T 0.000 T 0.029 -1.652 0.012 -1.33 -0.765 . 5.609 -1.652023 NA 1 0.485453 0.13431 NA 0.232 NA 5.9641804 1064 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 1064 16 3297073 3297073 A G exonic MEFV NA synonymous SNV MEFV:NM_001198536:exon4:c.T897C:p.D299D,MEFV:NM_000243:exon5:c.T1530C:p.D510D exonic ENSG00000103313 NA synonymous SNV ENSG00000103313:ENST00000536379:exon4:c.T897C:p.D299D,ENSG00000103313:ENST00000536980:exon4:c.T897C:p.D299D,ENSG00000103313:ENST00000541159:exon4:c.T897C:p.D299D,ENSG00000103313:ENST00000219596:exon5:c.T1530C:p.D510D,ENSG00000103313:ENST00000339854:exon5:c.T990C:p.D330D,ENSG00000103313:ENST00000537682:exon5:c.T1530C:p.D510D,ENSG00000103313:ENST00000542898:exon6:c.T1623C:p.D541D NA NA 16p13.3 NA NA Name=5 NA rs224206 0.64 0.64 0.631 0.663139 0.5577 0.6518 0.6297 0.6936 0.7658 0.56 0.65 0.63 0.74 0.6104 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.062308 NA NA 0.534535 0.681384 NA 0.645 CLINSIG=non-pathogenic;CLNDBN=Familial_Mediterranean_fever;CLNREVSTAT=single;CLNACC=RCV000030175.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1227:C0031069:249100:ORPHA342:12579009 5.9640316 1064 22 29755888 29755888 T C exonic AP1B1 NA synonymous SNV AP1B1:NM_001127:exon4:c.A204G:p.L68L,AP1B1:NM_001166019:exon4:c.A204G:p.L68L,AP1B1:NM_145730:exon4:c.A204G:p.L68L exonic ENSG00000100280 NA synonymous SNV ENSG00000100280:ENST00000402502:exon3:c.A204G:p.L68L,ENSG00000100280:ENST00000405198:exon3:c.A204G:p.L68L,ENSG00000100280:ENST00000415447:exon3:c.A204G:p.L68L,ENSG00000100280:ENST00000317368:exon4:c.A204G:p.L68L,ENSG00000100280:ENST00000356015:exon4:c.A204G:p.L68L,ENSG00000100280:ENST00000357586:exon4:c.A204G:p.L68L,ENSG00000100280:ENST00000421126:exon4:c.A204G:p.L68L,ENSG00000100280:ENST00000432560:exon4:c.A204G:p.L68L Score=623;Name=lod=454 NA 22q12.2 NA Name=HA-E2F1 NA NA rs2072051 0.66 0.66 0.687 0.66893 0.5726 0.7252 0.4481 0.8782 0.5838 0.58 0.72 0.45 0.86 0.584 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 0.628597 NA NA 0.546744 0.829097 NA 0.609 NA 5.9633226 1064 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 1064 16 11444572 11444572 A C exonic RMI2 NA synonymous SNV RMI2:NM_152308:exon2:c.A369C:p.T123T exonic ENSG00000175643 NA synonymous SNV ENSG00000175643:ENST00000312499:exon2:c.A369C:p.T123T,ENSG00000175643:ENST00000381820:exon2:c.A180C:p.T60T,ENSG00000175643:ENST00000572173:exon5:c.A180C:p.T60T Score=446;Name=lod=87 NA 16p13.13 NA NA NA NA rs7204628 0.17 0.17 0.178 0.178115 0.2565 0.001 0.1599 0.2549 0.1892 0.25 NA 0.17 0.26 0.2009 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.223253 NA NA 0.246628 0.242831 NA 0.261 NA 5.9626386 1064 11 33369685 33369685 A G intronic HIPK3 NA NA NA intronic ENSG00000110422 NA NA NA Score=629;Name=lod=481 NA 11p13 NA Name=GATA-1 NA NA rs139872013 0.01 0.01 0.005 0.00439297 0.0169 NA 0.0058 0.0008 NA 0.01 NA 0.01 0.002 0.0081 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 2.768936 2.768936 NA 0.012564 0.002271 NA NA NA 5.962436 1064 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 1064 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 1064 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 1064 9 114490308 114490308 T C exonic C9orf84 NA nonsynonymous SNV C9orf84:NM_001080551:exon9:c.A1130G:p.H377R,C9orf84:NM_173521:exon11:c.A1247G:p.H416R exonic ENSG00000165181 NA nonsynonymous SNV ENSG00000165181:ENST00000394777:exon9:c.A1130G:p.H377R,ENSG00000165181:ENST00000394779:exon9:c.A1130G:p.H377R,ENSG00000165181:ENST00000318737:exon11:c.A1247G:p.H416R,ENSG00000165181:ENST00000374287:exon13:c.A1247G:p.H416R NA NA 9q31.3 NA NA NA NA rs7470491 0.84 0.84 0.83 0.827676 0.7883 0.9266 0.866 0.7882 0.7924 0.79 0.92 0.86 0.81 0.8068 0.92 0.64 T 0.0 B 0.001 B 0.483 N 1.000 P 0 N 1.05 T -1.017 T 0.000 T 0.002 -2.266 0.004 -3.13 -0.440 -0.273 5.835 -2.266479 NA 0.95 0.776989 0.802315 NA 0.79 NA 5.9612444 1064 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=LDL cholesterol,Cholesterol, total 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 1064 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 1064 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 1064 7 47698685 47698685 A G exonic C7orf65 NA synonymous SNV C7orf65:NM_001123065:exon3:c.A315G:p.G105G exonic ENSG00000221845 NA synonymous SNV ENSG00000221845:ENST00000408988:exon3:c.A315G:p.G105G NA NA 7p12.3 NA NA Name=3 NA rs12531737 0.18 0.18 0.161 0.159944 0.2286 0.1905 0.2594 0.0265 0.1677 0.23 0.23 0.21 0.03 0.2304 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359282 NA NA 0.247208 0.070791 ID=COSN168045;OCCURENCE=1(large_intestine) 0.087 NA 5.9604586 1064 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 1064 1 208207839 208207839 G A exonic PLXNA2 NA synonymous SNV PLXNA2:NM_025179:exon27:c.C4863T:p.Y1621Y exonic ENSG00000076356 NA synonymous SNV ENSG00000076356:ENST00000367033:exon27:c.C4863T:p.Y1621Y Score=508;Name=lod=155 NA 1q32.2 Score=963;Name=V$LMO2COM_02 NA NA NA rs3736963 0.5 0.5 0.493 0.442692 0.6203 0.2579 0.4539 0.5401 0.3108 0.62 0.28 0.5 0.58 0.512 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.643213 NA NA 0.574535 0.551521 NA 0.543 NA 5.9598316 1064 6 168462626 168462626 G A exonic FRMD1 NA synonymous SNV FRMD1:NM_001122841:exon8:c.C702T:p.P234P,FRMD1:NM_024919:exon8:c.C906T:p.P302P exonic ENSG00000153303 NA synonymous SNV ENSG00000153303:ENST00000537786:exon7:c.C219T:p.P73P,ENSG00000153303:ENST00000283309:exon8:c.C906T:p.P302P,ENSG00000153303:ENST00000440994:exon8:c.C702T:p.P234P Score=538;Name=lod=204 NA 6q27 NA NA NA NA rs12197610 0.21 0.21 0.234 0.213658 0.2018 0.0407 0.183 0.4463 0.1115 0.19 0.04 0.18 0.48 0.284 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.229903 NA NA 0.221395 0.401725 NA 0.21 NA 5.9594716 1064 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 1064 15 75183936 75183936 C T intronic MPI NA NA NA intronic ENSG00000178802 NA NA NA NA NA 15q24.1 NA Name=HNF4G_(SC-6558) NA NA rs143242949 0.01 0.01 0.008 0.00838658 0.0229 0.001 0.0144 NA 0.0082 0.02 0.0017 0.02 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 0.565305 NA NA 0.006519 0.003186 NA NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080013.1;CLNDSDB=.;CLNDSDBID=. 5.959181 1064 12 69986788 69986788 A G exonic CCT2 NA synonymous SNV CCT2:NM_001198842:exon9:c.A642G:p.T214T,CCT2:NM_006431:exon9:c.A783G:p.T261T exonic ENSG00000166226 NA synonymous SNV ENSG00000166226:ENST00000299300:exon9:c.A783G:p.T261T,ENSG00000166226:ENST00000543146:exon9:c.A642G:p.T214T,ENSG00000166226:ENST00000544368:exon9:c.A783G:p.T261T,ENSG00000166226:ENST00000550010:exon9:c.A783G:p.T261T Score=686;Name=lod=820 NA 12q15 NA NA NA NA rs1043434 0.21 0.21 0.189 0.216853 0.2565 0.3026 0.1888 0.084 0.2873 0.25 0.27 0.22 0.09 0.2243 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.249108 1.249108 NA 0.227209 0.104176 NA 0.152 NA 5.9586576 1064 6 34855748 34855748 G C UTR5 TAF11 NM_005643:c.-14C>G,NM_001270488:c.-14C>G NA NA UTR5 ENSG00000064995 ENST00000361288:c.-14C>G,ENST00000420584:c.-14C>G NA NA NA NA 6p21.31 NA Name=GRp20,HEY1,KAP1,ELF1_(SC-631),ETS1,ATF3,c-Jun,TAF1,IRF4_(M-17),NFKB,Pol2-4H8,eGFP-JunB,GABP,Ini1,p300,POU2F2,Pol2,FOSL2,Pol2(phosphoS2),HA-E2F1,ZNF263,GTF2F1_(RAP-74),JunD,SMC3_(ab9263),BAF155,ELK4,PAX5-N19,TBP,AP-2gamma,TR4,BRCA1_(C-1863),YY1,AP-2alpha,GATA3_(SC-268),Sin3Ak-20,E2F4,PAX5-C20,NRSF,Mxi1_(bHLH),Max,YY1_(C-20),Rad21,c-Myc,Oct-2,SRF,IRF1,SP1 Name=148 NA rs1051115 0.15 0.15 0.162 0.155551 0.1342 0.1379 0.1081 0.2564 0.093 0.12 0.13 0.12 0.25 0.1218 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.026842 NA NA 0.118721 0.25034 NA 0.188 NA 5.9586124 1064 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 1064 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 1064 4 108641300 108641300 T C exonic PAPSS1 NA synonymous SNV PAPSS1:NM_005443:exon1:c.A36G:p.K12K exonic ENSG00000138801 NA synonymous SNV ENSG00000138801:ENST00000265174:exon1:c.A36G:p.K12K Score=403;Name=lod=58 NA 4q25 NA Name=TBP,CEBPB,ZEB1_(SC-25388),TAF1,Pol2-4H8,HEY1,Pol2 Name=3 NA rs973126 0.89 0.89 0.879 0.881989 0.8996 0.8819 0.8977 0.8011 0.9622 0.9 0.9 0.9 0.85 0.8977 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 2.238685 2.238685 NA 0.911279 0.794371 NA 0.739 NA 5.9580876 1064 20 61881296 61881296 A G exonic NKAIN4 NA synonymous SNV NKAIN4:NM_152864:exon2:c.T183C:p.Y61Y exonic ENSG00000101198 NA synonymous SNV ENSG00000101198:ENST00000370316:exon2:c.T183C:p.Y61Y Score=491;Name=lod=132 NA 20q13.33 Score=804;Name=V$CDPCR3_01 NA NA NA rs927081 0.67 0.67 0.637 0.66254 0.5497 0.8542 0.6095 0.677 0.5992 0.56 0.86 0.59 0.68 0.6094 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 -1.284783 NA NA 0.550233 0.656151 ID=COSM444203;OCCURENCE=1(breast) 0.681 NA 5.9573336 1064 3 15106542 15106542 G C intronic MRPS25 NA NA NA intronic ENSG00000131368 NA NA NA NA NA 3p25.1 NA Name=Pol2(b) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0427 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.553672 NA NA NA NA NA NA NA 5.9573 1064 3 39186728 39186728 C T exonic CSRNP1 NA synonymous SNV CSRNP1:NM_033027:exon3:c.G225A:p.R75R exonic ENSG00000144655 NA synonymous SNV ENSG00000144655:ENST00000273153:exon3:c.G225A:p.R75R,ENSG00000144655:ENST00000514182:exon3:c.G225A:p.R75R Score=470;Name=lod=108 NA 3p22.2 NA NA Name=2 NA rs784517 0.48 0.48 0.448 0.461462 0.5845 0.5615 0.5908 0.1188 0.6033 0.59 0.56 0.56 0.14 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 1.149777 NA NA 0.564884 0.198139 NA 0.449 NA 5.9569826 1064 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 1064 1 26138262 26138262 T C exonic SEPN1 NA unknown UNKNOWN exonic ENSG00000162430 NA synonymous SNV ENSG00000162430:ENST00000354177:exon8:c.T1071C:p.P357P Score=399;Name=lod=56 NA 1p36.11 Score=866;Name=V$E47_01 NA NA NA rs760597 0.79 0.79 0.774 0.791933 0.7753 0.9683 0.8516 0.5575 0.9018 0.79 0.96 0.84 0.57 0.8132 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.237476 2.237476 NA 0.788101 0.633671 ID=COSM1127046;OCCURENCE=1(prostate) 0.775 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082009.2;CLNDSDB=.;CLNDSDBID=. 5.9567323 1064 22 30765502 30765502 G A exonic CCDC157 NA synonymous SNV CCDC157:NM_001017437:exon4:c.G330A:p.A110A exonic ENSG00000187860 NA synonymous SNV ENSG00000187860:ENST00000445005:exon3:c.G330A:p.A110A,ENSG00000187860:ENST00000338306:exon4:c.G330A:p.A110A,ENSG00000187860:ENST00000405659:exon4:c.G330A:p.A110A,ENSG00000187860:ENST00000430839:exon4:c.G330A:p.A110A NA NA 22q12.2 Score=697;Name=V$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 1064 3 194081089 194081089 C T exonic LRRC15 NA synonymous SNV LRRC15:NM_130830:exon2:c.G684A:p.L228L,LRRC15:NM_001135057:exon3:c.G702A:p.L234L exonic ENSG00000172061 NA synonymous SNV ENSG00000172061:ENST00000347624:exon2:c.G684A:p.L228L,ENSG00000172061:ENST00000439944:exon2:c.G702A:p.L234L,ENSG00000172061:ENST00000428839:exon3:c.G702A:p.L234L Score=500;Name=lod=144 NA 3q29 NA NA NA NA rs11713861 0.18 0.18 0.176 0.147364 0.2416 0.0685 0.1398 0.1573 0.1237 0.27 0.09 0.16 0.17 0.2112 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064756 NA NA 0.257442 0.167045 NA 0.217 NA 5.9564246 1064 19 6417860 6417860 G A intronic KHSRP NA NA NA intronic ENSG00000088247 NA NA NA NA NA 19p13.3 NA Name=Rad21,CTCF_(SC-5916),CTCF Name=49 NA rs150345802 0.01 0.01 0.001 0.00858626 0.0119 NA 0.0029 NA 0.0297 0.01 NA 0.0028 NA 0.015 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 -0.987084 NA NA 0.016841 0.002156 NA NA NA 5.956259 1064 3 194080648 194080648 G A exonic LRRC15 NA synonymous SNV LRRC15:NM_130830:exon2:c.C1125T:p.N375N,LRRC15:NM_001135057:exon3:c.C1143T:p.N381N exonic ENSG00000172061 NA synonymous SNV ENSG00000172061:ENST00000347624:exon2:c.C1125T:p.N375N,ENSG00000172061:ENST00000439944:exon2:c.C1143T:p.N381N,ENSG00000172061:ENST00000428839:exon3:c.C1143T:p.N381N Score=508;Name=lod=155 NA 3q29 NA NA NA NA rs9682540 0.17 0.17 0.18 0.147165 0.2416 0.0685 0.1398 0.1566 0.1237 0.25 0.08 0.15 0.16 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 0.286059 NA NA 0.257442 0.167045 NA 0.217 NA 5.9562246 1064 6 158735087 158735087 C T exonic TULP4 NA synonymous SNV TULP4:NM_001007466:exon1:c.C39T:p.S13S,TULP4:NM_020245:exon1:c.C39T:p.S13S exonic ENSG00000130338 NA synonymous SNV ENSG00000130338:ENST00000367094:exon1:c.C39T:p.S13S,ENSG00000130338:ENST00000367097:exon1:c.C39T:p.S13S Score=569;Name=lod=275 NA 6q25.3 Score=836;Name=V$PPARG_03 NA Name=12 NA rs9364951 0.86 0.86 0.852 0.865216 0.9155 0.9038 0.9063 0.7247 0.9346 0.91 0.88 0.92 0.71 0.8941 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.21341 NA NA 0.90093 0.743305 NA 0.891 NA 5.9561366 1065 6 152464839 152464839 A G exonic SYNE1 NA synonymous SNV SYNE1:NM_033071:exon138:c.T24894C:p.R8298R,SYNE1:NM_182961:exon138:c.T25038C:p.R8346R exonic ENSG00000131018 NA synonymous SNV ENSG00000131018:ENST00000539504:exon9:c.T1503C:p.R501R,ENSG00000131018:ENST00000354674:exon10:c.T1572C:p.R524R,ENSG00000131018:ENST00000367257:exon18:c.T2976C:p.R992R,ENSG00000131018:ENST00000367251:exon24:c.T3873C:p.R1291R,ENSG00000131018:ENST00000356820:exon53:c.T8610C:p.R2870R,ENSG00000131018:ENST00000265368:exon138:c.T25038C:p.R8346R,ENSG00000131018:ENST00000367255:exon138:c.T25038C:p.R8346R,ENSG00000131018:ENST00000423061:exon138:c.T24894C:p.R8298R,ENSG00000131018:ENST00000341594:exon139:c.T23874C:p.R7958R,ENSG00000131018:ENST00000448038:exon139:c.T24894C:p.R8298R Score=558;Name=lod=246 NA 6q25.1 NA NA NA NA rs2256135 0.66 0.66 0.651 0.689696 0.5447 0.6865 0.7118 0.7844 0.6984 0.54 0.69 0.68 0.8 0.6109 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.369156 NA NA 0.556395 0.754426 NA 0.558 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118470.2;CLNDSDB=.;CLNDSDBID=. 5.9546716 1065 13 99100547 99100547 T C exonic FARP1 NA synonymous SNV FARP1:NM_005766:exon27:c.T3114C:p.S1038S exonic ENSG00000152767 NA synonymous SNV ENSG00000152767:ENST00000319562:exon27:c.T3114C:p.S1038S,ENSG00000152767:ENST00000376586:exon28:c.T3207C:p.S1069S,ENSG00000152767:ENST00000595437:exon28:c.T3207C:p.S1069S Score=426;Name=lod=72 NA 13q32.2 Score=934;Name=V$AP1_C NA NA NA rs12261 0.53 0.53 0.541 0.502396 0.5905 0.5625 0.438 0.4637 0.4479 0.58 0.55 0.46 0.48 0.5414 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.481558 NA NA 0.580349 0.486609 NA 0.507 NA 5.9544176 1065 9 116122954 116122954 A G exonic BSPRY NA synonymous SNV BSPRY:NM_017688:exon3:c.A468G:p.K156K exonic ENSG00000119411 NA synonymous SNV ENSG00000119411:ENST00000374183:exon3:c.A468G:p.K156K Score=399;Name=lod=56 NA 9q32 NA NA NA NA rs752757 0.35 0.35 0.327 0.364417 0.1978 0.3919 0.3343 0.5393 0.2924 0.18 0.4 0.35 0.54 0.3017 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.383034 1.383034 NA 0.212843 0.457422 ID=COSM455183;OCCURENCE=2(breast) 0.442 NA 5.9543236 1065 16 68729785 68729785 C A exonic CDH3 NA synonymous SNV CDH3:NM_001793:exon15:c.C2239A:p.R747R exonic ENSG00000062038 NA synonymous SNV ENSG00000062038:ENST00000569080:exon1:c.C58A:p.R20R,ENSG00000062038:ENST00000581171:exon14:c.C2074A:p.R692R,ENSG00000062038:ENST00000264012:exon15:c.C2239A:p.R747R,ENSG00000062038:ENST00000429102:exon15:c.C2239A:p.R747R Score=544;Name=lod=216 NA 16q22.1 NA NA NA NA rs17715450 0.5 0.5 0.493 0.466853 0.5845 0.4732 0.5043 0.2867 0.5562 0.59 0.53 0.52 0.3 0.533 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.490217 1.490217 NA 0.595233 0.317789 NA 0.565 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079721.1;CLNDSDB=.;CLNDSDBID=. 5.9539336 1065 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 1065 1 172547465 172547465 A G exonic SUCO NA synonymous SNV SUCO:NM_016227:exon12:c.A1236G:p.E412E,SUCO:NM_014283:exon14:c.A1368G:p.E456E exonic ENSG00000094975 NA synonymous SNV ENSG00000094975:ENST00000367723:exon13:c.A1824G:p.E608E,ENSG00000094975:ENST00000263688:exon14:c.A1368G:p.E456E Score=644;Name=lod=554 NA 1q24.3 NA NA NA NA rs2285664 0.21 0.21 0.225 0.254193 0.2296 0.2024 0.2089 0.2368 0.3885 0.22 0.19 0.25 0.2 0.2439 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.201202 NA NA 0.240581 0.232637 NA 0.275 NA 5.9525856 1065 X 89177673 89177673 G A exonic TGIF2LX NA nonsynonymous SNV TGIF2LX:NM_138960:exon2:c.G589A:p.V197I exonic ENSG00000153779 NA nonsynonymous SNV ENSG00000153779:ENST00000561129:exon1:c.G589A:p.V197I,ENSG00000153779:ENST00000283891:exon2:c.G589A:p.V197I NA NA Xq21.31 NA NA NA NA rs2290380 0.74 0.74 0.72258 NA NA NA NA NA NA 0.65 0.69 0.8 0.9 0.699 0.9 . . 0.0 B 0.0 B 0.062 N 1.000 P -0.895 N -0.05 T -0.979 T 0.000 T 0.008 0.571 7.084 0.387 -0.320 0.495 5.736 0.570894 NA 0.09 0.681926 0.898566 NA 0.551 NA 5.9524074 1065 13 39263023 39263023 C T exonic FREM2 NA synonymous SNV FREM2:NM_207361:exon1:c.C1542T:p.A514A exonic ENSG00000150893 NA synonymous SNV ENSG00000150893:ENST00000280481:exon1:c.C1542T:p.A514A NA NA 13q13.3 Score=899;Name=V$NF1_Q6 NA NA NA rs12874397 0.12 0.12 0.116 0.0842652 0.2634 0.004 0.1239 0.0061 0.0603 0.26 0.01 0.14 0.01 0.1903 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141471 NA NA 0.260642 0.043123 NA 0.13 NA 5.9523246 1065 16 71674882 71674882 C G exonic MARVELD3 NA synonymous SNV MARVELD3:NM_001017967:exon3:c.C1185G:p.P395P exonic ENSG00000040199,ENSG00000140832 NA nonsynonymous SNV ENSG00000040199:ENST00000568004:exon14:c.G2093C:p.R698P NA NA 16q22.2 NA NA NA NA rs2303225 0.42 0.42 0.393 0.403554 0.325 0.6835 0.5274 0.2549 0.3088 0.31 0.66 0.46 0.27 0.39 0.66 0.11 T . . . . . . 1.000 P . . . . -0.931 T 0.000 T . 2.27 13.55 1.4 0.041 0.022 9.115 2.27 2.27 0 0.333256 0.267061 NA 0.341 NA 5.951744 1065 19 875389 875389 G A exonic MED16 NA synonymous SNV MED16:NM_005481:exon10:c.C1626T:p.T542T exonic ENSG00000175221 NA synonymous SNV ENSG00000175221:ENST00000586017:exon8:c.C1194T:p.T398T,ENSG00000175221:ENST00000592943:exon8:c.C1419T:p.T473T,ENSG00000175221:ENST00000589119:exon9:c.C1626T:p.T542T,ENSG00000175221:ENST00000269814:exon10:c.C1626T:p.T542T,ENSG00000175221:ENST00000312090:exon10:c.C1626T:p.T542T,ENSG00000175221:ENST00000325464:exon10:c.C1626T:p.T542T,ENSG00000175221:ENST00000395808:exon10:c.C1626T:p.T542T,ENSG00000175221:ENST00000606248:exon10:c.C1626T:p.T542T Score=548;Name=lod=225 NA 19p13.3 NA NA NA NA rs11546307 0.2 0.2 0.202 0.182508 0.2555 0.0179 0.1916 0.2935 0.1207 0.26 0.02 0.22 0.31 0.2083 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.541795 1.541795 NA 0.252384 0.275431 NA 0.283 NA 5.9504826 1065 19 48622427 48622427 A G exonic LIG1 NA synonymous SNV LIG1:NM_000234:exon25:c.T2406C:p.D802D exonic ENSG00000105486 NA synonymous SNV ENSG00000105486:ENST00000536218:exon23:c.T2202C:p.D734D,ENSG00000105486:ENST00000427526:exon24:c.T2313C:p.D771D,ENSG00000105486:ENST00000263274:exon25:c.T2406C:p.D802D Score=502;Name=lod=146 NA 19q13.33 Score=760;Name=V$PAX5_01 NA NA NA rs20581 0.72 0.72 0.717 0.718051 0.5616 0.874 0.572 0.8926 0.5859 0.55 0.87 0.61 0.91 0.6228 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 0.581994 NA NA 0.532123 0.844687 ID=COSM1129769;OCCURENCE=1(pancreas),1(prostate) 0.739 NA 5.9501436 1065 12 106500344 106500344 C T intronic NUAK1 NA NA NA intronic ENSG00000074590 NA NA NA Score=733;Name=lod=1270 NA 12q23.3 NA NA Name=43 NA rs78442120 0.05 0.05 0.05 0.0583067 0.0109 0.0288 0.0274 0.1619 0.0194 0.01 0.03 0.03 0.15 0.0277 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.226289 2.226289 NA 0.011279 0.123014 NA 0.051 NA 5.950121 1065 2 192160839 192160839 A T exonic MYO1B NA synonymous SNV MYO1B:NM_001130158:exon3:c.A138T:p.T46T,MYO1B:NM_001161819:exon3:c.A138T:p.T46T,MYO1B:NM_012223:exon3:c.A138T:p.T46T exonic ENSG00000128641 NA synonymous SNV ENSG00000128641:ENST00000392316:exon2:c.A138T:p.T46T,ENSG00000128641:ENST00000304164:exon3:c.A138T:p.T46T,ENSG00000128641:ENST00000339514:exon3:c.A138T:p.T46T,ENSG00000128641:ENST00000392318:exon3:c.A138T:p.T46T,ENSG00000128641:ENST00000418908:exon3:c.A138T:p.T46T,ENSG00000128641:ENST00000420448:exon3:c.A138T:p.T46T,ENSG00000128641:ENST00000438652:exon3:c.A138T:p.T46T,ENSG00000128641:ENST00000451437:exon3:c.A138T:p.T46T Score=563;Name=lod=258 NA 2q32.3 NA NA Name=5 NA rs4853574 0.54 0.54 0.525 0.509185 0.5835 0.6567 0.5865 0.3313 0.4663 0.58 0.66 0.53 0.36 0.5571 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 1.205706 NA NA 0.577791 0.374262 NA 0.428 NA 5.9482756 1065 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 1065 14 75747258 75747258 T C intronic FOS NA NA NA UTR5 ENSG00000170345 ENST00000555347:c.-56T>C NA NA NA NA 14q24.3 NA Name=Pol2(b),Pol2,TAF7_(SQ-8) Name=85 NA rs4645856 0.11 0.11 0.118 0.117412 0.0616 0.2123 0.0648 0.152 0.0675 0.06 0.18 0.07 0.14 0.0937 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.667643 NA NA 0.063256 0.169995 NA 0.13 NA 5.9481107 1065 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 1065 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 1065 7 28996220 28996220 G A exonic TRIL NA unknown UNKNOWN ncRNA_exonic ENSG00000176734,ENSG00000255690 NA NA NA NA NA 7p14.3 Score=767;Name=V$PAX5_01 Name=CTCF Name=88 NA rs1006521 0.5 0.5 0.549 0.489816 0.6173 0.2609 0.5259 0.5802 0.4468 0.61 0.27 0.57 0.56 0.6004 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.164091 NA NA 0.668056 0.609618 NA 0.254 NA 5.9475773 1065 9 6645251 6645251 C T exonic GLDC NA synonymous SNV GLDC:NM_000170:exon1:c.G249A:p.G83G exonic ENSG00000178445 NA synonymous SNV ENSG00000178445:ENST00000321612:exon1:c.G249A:p.G83G Score=554;Name=lod=239 NA 9p24.1 NA NA NA NA rs12341698 0.21 0.21 0.175 0.249201 0.2266 0.2083 0.2464 0.2269 0.3466 0.23 0.2 0.23 0.2 0.2832 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.587447 1.587447 NA 0.209302 0.20699 NA 0.203 NA 5.9475646 1065 1 156146218 156146218 C T exonic SEMA4A NA synonymous SNV SEMA4A:NM_001193302:exon13:c.C1320T:p.P440P,SEMA4A:NM_001193300:exon15:c.C1716T:p.P572P,SEMA4A:NM_001193301:exon15:c.C1716T:p.P572P,SEMA4A:NM_022367:exon15:c.C1716T:p.P572P exonic ENSG00000196189 NA synonymous SNV ENSG00000196189:ENST00000368284:exon13:c.C1320T:p.P440P,ENSG00000196189:ENST00000368282:exon14:c.C1716T:p.P572P,ENSG00000196189:ENST00000368286:exon14:c.C1320T:p.P440P,ENSG00000196189:ENST00000355014:exon15:c.C1716T:p.P572P,ENSG00000196189:ENST00000368285:exon15:c.C1716T:p.P572P Score=444;Name=lod=85 NA 1q22 Score=865;Name=V$YY1_01 NA NA NA rs12401573 0.45 0.45 0.445 0.430911 0.6044 0.2321 0.5231 0.3949 0.4407 0.62 0.23 0.54 0.39 0.5272 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.963147 NA NA 0.587907 0.422152 NA 0.37 NA 5.9471596 1065 2 85826721 85826721 G A exonic TMEM150A NA synonymous SNV TMEM150A:NM_001031738:exon7:c.C501T:p.T167T exonic ENSG00000168890 NA synonymous SNV ENSG00000168890:ENST00000306353:exon6:c.C342T:p.T114T,ENSG00000168890:ENST00000409668:exon6:c.C501T:p.T167T,ENSG00000168890:ENST00000334462:exon7:c.C501T:p.T167T NA NA 2p11.2 NA Name=Pol2 NA NA rs11891495 0.16 0.16 0.138 0.175719 0.2535 0.0823 0.1801 0.1369 0.2413 0.24 0.06 0.21 0.11 0.2121 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33339 NA NA 0.253953 0.146391 NA 0.21 NA 5.9471136 1065 8 12879099 12879099 G A exonic KIAA1456 NA nonsynonymous SNV KIAA1456:NM_001099677:exon2:c.G533A:p.G178E,KIAA1456:NM_020844:exon5:c.G911A:p.G304E exonic ENSG00000250305 NA nonsynonymous SNV ENSG00000250305:ENST00000524591:exon5:c.G911A:p.G304E NA NA 8p22 NA NA NA NA rs502882 0.75 0.75 0.725 0.711462 0.8221 0.7937 0.7622 0.5862 0.6462 0.82 0.78 0.77 0.59 0.761 0.82 1 T 0.0 B 0.0 B 0.880 N 1.000 P -1.52 N 3.18 T -1.011 T 0.000 T 0.015 -0.897 0.444 1.07 -0.117 1.217 5.748 -0.897193 NA 1 0.803393 0.631125 NA 0.71 NA 5.9468404 1065 12 113448288 113448288 A G exonic OAS2 NA stoploss OAS2:NM_016817:exon11:c.A2159G:p.X720W exonic ENSG00000111335 NA stoploss ENSG00000111335:ENST00000342315:exon11:c.A2159G:p.X720W NA NA 12q24.13 NA NA NA NA rs15895 0.83 0.83 0.827 0.864417 0.6441 0.997 0.7781 0.9879 0.8487 0.65 0.99 0.75 0.98 0.7536 0.99 . . . . . . . . 1.000 P . . . . . . . . . -0.322 2.47 0.85 0.163 0.040 3.300 -0.322201 NA 0.1 0.655698 0.933273 NA 0.761 NA 5.946602 1065 7 139724555 139724555 C T exonic PARP12 NA synonymous SNV PARP12:NM_022750:exon12:c.G1911A:p.P637P exonic ENSG00000059378 NA synonymous SNV ENSG00000059378:ENST00000263549:exon12:c.G1911A:p.P637P Score=410;Name=lod=62 NA 7q34 NA NA NA NA rs3735352 0.42 0.42 0.426 0.375599 0.2117 0.498 0.3876 0.5522 0.1708 0.21 0.49 0.37 0.68 0.2835 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.78869 1.78869 NA 0.226047 0.634589 NA 0.333 NA 5.9454196 1065 12 53581376 53581376 C T UTR3 ZNF740 NM_001004304:c.*2C>T NA NA UTR3 ENSG00000139651 ENST00000416904:c.*2C>T NA NA Score=658;Name=lod=629 NA 12q13.13 NA Name=ZNF274 NA NA rs3101059 0.1 0.1 0.109 0.0936502 0.1332 0.1012 0.1614 0.0159 0.1022 0.13 0.12 0.14 0.02 0.1195 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.373088 4.373088 NA 0.135218 0.024345 NA 0.138 NA 5.9454154 1065 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 1065 11 66240882 66240882 T C exonic PELI3 NA synonymous SNV PELI3:NM_001243136:exon4:c.T306C:p.D102D,PELI3:NM_001098510:exon5:c.T555C:p.D185D,PELI3:NM_001243135:exon5:c.T438C:p.D146D,PELI3:NM_145065:exon6:c.T627C:p.D209D exonic ENSG00000174516 NA synonymous SNV ENSG00000174516:ENST00000526296:exon4:c.T306C:p.D102D,ENSG00000174516:ENST00000349459:exon5:c.T555C:p.D185D,ENSG00000174516:ENST00000320740:exon6:c.T627C:p.D209D,ENSG00000174516:ENST00000524466:exon6:c.T627C:p.D209D Score=566;Name=lod=267 NA 11q13.2 NA NA NA NA rs2277302 0.27 0.27 0.248 0.264976 0.2425 0.2877 0.1801 0.3623 0.1933 0.26 0.29 0.21 0.32 0.2444 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.07289 NA NA 0.234575 0.326136 NA 0.232 NA 5.9451916 1065 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 1066 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 1066 4 95197520 95197520 C T exonic SMARCAD1 NA synonymous SNV SMARCAD1:NM_001254949:exon7:c.C549T:p.D183D,SMARCAD1:NM_001128429:exon15:c.C1839T:p.D613D,SMARCAD1:NM_001128430:exon15:c.C1839T:p.D613D,SMARCAD1:NM_020159:exon15:c.C1839T:p.D613D exonic ENSG00000163104 NA synonymous SNV ENSG00000163104:ENST00000509418:exon7:c.C549T:p.D183D,ENSG00000163104:ENST00000354268:exon15:c.C1839T:p.D613D,ENSG00000163104:ENST00000359052:exon15:c.C1839T:p.D613D,ENSG00000163104:ENST00000457823:exon15:c.C1839T:p.D613D Score=686;Name=lod=821 NA 4q22.3 NA Name=CEBPB,MafK_(ab50322) NA NA rs6823404 0.57 0.57 0.541 0.557109 0.5557 0.7034 0.6628 0.3396 0.6268 0.55 0.73 0.63 0.36 0.5892 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 1.142076 NA NA 0.57686 0.38493 ID=COSM1130987;OCCURENCE=1(prostate) 0.413 NA 5.9449066 1066 17 74162517 74162517 C T intronic RNF157 NA NA NA intronic ENSG00000141576 NA NA NA NA NA 17q25.1 NA Name=CTCF Name=33 NA rs118159721 0.01 0.01 0.005 0.00998403 0.0249 0.001 0.0101 NA 0.0174 0.03 NA 0.01 NA 0.0149 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 -0.216713 NA NA 0.015465 0.004539 NA NA NA 5.944735 1066 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 1066 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 1066 10 72513682 72513682 C T exonic ADAMTS14 NA synonymous SNV ADAMTS14:NM_080722:exon19:c.C2856T:p.C952C,ADAMTS14:NM_139155:exon19:c.C2865T:p.C955C exonic ENSG00000138316 NA synonymous SNV ENSG00000138316:ENST00000373207:exon19:c.C2856T:p.C952C,ENSG00000138316:ENST00000373208:exon19:c.C2865T:p.C955C Score=395;Name=lod=54 NA 10q22.1 NA NA Name=3 NA rs2587475 0.53 0.53 0.499 0.52516 0.5447 0.4395 0.6614 0.5182 0.5061 0.54 0.47 0.63 0.5 0.6128 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.711107 NA NA 0.566044 0.507296 NA 0.457 NA 5.9431226 1066 4 5755542 5755542 C A exonic EVC NA nonsynonymous SNV EVC:NM_153717:exon10:c.C1346A:p.T449K exonic ENSG00000072840 NA nonsynonymous SNV ENSG00000072840:ENST00000264956:exon10:c.C1346A:p.T449K,ENSG00000072840:ENST00000382674:exon10:c.C1346A:p.T449K,ENSG00000072840:ENST00000509451:exon10:c.C1346A:p.T449K NA NA 4p16.2 NA Name=eGFP-JunD,ELF1_(SC-631) NA NA rs2302075 0.83 0.83 0.85 0.844649 0.7932 0.8254 0.7334 0.9902 0.7996 0.79 0.82 0.73 0.99 0.7965 0.99 1 T 0.0 B 0.0 B 0.555 N 1.000 P -1.78 N 0.87 T -0.970 T 0.000 T 0.047 -1.486 0.018 -0.274 -0.277 0.313 1.066 -1.486366 NA 1 0.800698 0.953926 NA 0.841 NA 5.9429354 1066 X 49081291 49081291 G A exonic CACNA1F NA synonymous SNV CACNA1F:NM_001256789:exon14:c.C1809T:p.G603G,CACNA1F:NM_001256790:exon14:c.C1647T:p.G549G,CACNA1F:NM_005183:exon14:c.C1842T:p.G614G exonic ENSG00000102001 NA synonymous SNV ENSG00000102001:ENST00000323022:exon14:c.C1809T:p.G603G,ENSG00000102001:ENST00000376251:exon14:c.C1647T:p.G549G,ENSG00000102001:ENST00000376265:exon14:c.C1842T:p.G614G NA NA Xp11.23 Score=809;Name=V$RREB1_01 NA NA NA rs2235127 0.45 0.45 0.44515 NA NA NA NA NA NA 0.28 0.65 0.45 0.49 0.4461 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.924499 NA NA 0.278579 0.430508 ID=COSM1468350;OCCURENCE=1(large_intestine) 0.268 NA 5.9419876 1066 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=CTCF_(SC-5916),CTCF,Rad21,RXRA 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 1066 15 84539619 84539619 C G exonic ADAMTSL3 NA nonsynonymous SNV ADAMTSL3:NM_207517:exon9:c.C868G:p.L290V exonic ENSG00000156218 NA nonsynonymous SNV ENSG00000156218:ENST00000286744:exon9:c.C868G:p.L290V,ENSG00000156218:ENST00000567476:exon9:c.C868G:p.L290V NA NA 15q25.2 NA NA NA NA rs4144691 0.82 0.82 0.807 0.807508 0.7833 0.7232 0.9078 0.9629 0.638 0.77 0.72 0.88 0.95 0.8061 0.95 1 T 0.0 B 0.001 B 0.830 N 1.000 P -0.055 N -0.06 T -0.961 T 0.000 T 0.037 -2.817 0 1.68 -0.175 1.054 5.542 -2.816932 NA 1 0.802326 0.938039 NA 0.891 NA 5.9416074 1066 6 160551204 160551204 G C exonic SLC22A1 NA nonsynonymous SNV SLC22A1:NM_003057:exon2:c.G480C:p.L160F,SLC22A1:NM_153187:exon2:c.G480C:p.L160F exonic ENSG00000175003 NA nonsynonymous SNV ENSG00000175003:ENST00000324965:exon2:c.G480C:p.L160F,ENSG00000175003:ENST00000366963:exon2:c.G480C:p.L160F,ENSG00000175003:ENST00000457470:exon2:c.G480C:p.L160F,ENSG00000175003:ENST00000460902:exon2:c.G480C:p.L160F Score=401;Name=lod=57 NA 6q25.3 NA NA NA NA rs683369 0.87 0.87 0.872 0.876198 0.7853 0.8542 0.8919 0.9894 0.8282 0.79 0.86 0.89 0.99 0.8279 0.99 0.68 T 0.004 B 0.047 B 0.015 N 0.990 P 0.015 N -0.92 T -1.089 T 0.062 T 0.052 -2.588 0 1.51 0.228 0.207 5.718 -2.58793 NA 1 0.778721 0.950522 NA 0.891 NA 5.9414124 1066 17 80039420 80039420 A C intronic FASN NA NA NA intronic ENSG00000169710 NA NA NA NA NA 17q25.3 NA Name=Pol2 Name=5 NA rs72863323 0.03 0.03 0.026 0.0215655 0.0586 NA 0.0346 0.0008 0.0245 0.06 NA 0.05 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 0.35958 NA NA NA NA NA 0.065 NA 5.9414 1066 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 1066 3 111983157 111983157 G A exonic SLC9C1 NA synonymous SNV SLC9C1:NM_183061:exon9:c.C912T:p.L304L exonic ENSG00000172139 NA synonymous SNV ENSG00000172139:ENST00000305815:exon9:c.C912T:p.L304L Score=401;Name=lod=57 NA 3q13.2 NA NA NA NA rs62276974 0.15 0.15 0.152 0.121605 0.2604 0.0109 0.1354 0.1346 0.0654 0.26 0.01 0.18 0.14 0.2254 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410275 NA NA 0.239774 0.146734 NA 0.188 NA 5.9410926 1066 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 1066 11 73686480 73686480 C T intronic UCP2 NA NA NA intronic ENSG00000175567 NA NA NA NA NA 11q13.4 NA Name=Pol2 Name=4 NA rs760206 0.03 0.03 0.029 0.0289537 0.0596 NA 0.0375 0.0166 0.0378 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 -0.078273 NA NA NA NA NA 0.014 NA 5.9404 1066 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 1066 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 1066 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 1066 7 45009723 45009723 G A exonic MYO1G NA synonymous SNV MYO1G:NM_033054:exon10:c.C1248T:p.N416N exonic ENSG00000136286 NA synonymous SNV ENSG00000136286:ENST00000258787:exon10:c.C1248T:p.N416N NA NA 7p13 NA NA Name=3 Score=81;Name=2180288_0_-_81 rs11555636 0.59 0.59 0.599 0.583666 0.5596 0.7619 0.611 0.4667 0.5634 0.55 0.78 0.58 0.45 0.5891 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 0.594931 NA NA 0.578372 0.488198 NA 0.674 NA 5.9395946 1066 11 65826704 65826704 G A exonic SF3B2 NA synonymous SNV SF3B2:NM_006842:exon11:c.G1215A:p.K405K exonic ENSG00000087365 NA synonymous SNV ENSG00000087365:ENST00000528302:exon10:c.G1164A:p.K388K,ENSG00000087365:ENST00000322535:exon11:c.G1215A:p.K405K Score=548;Name=lod=226 NA 11q13.1 NA NA NA NA rs1049872 0.23 0.23 0.175 0.195487 0.2445 0.2292 0.3991 0.1165 0.0726 0.24 0.23 0.35 0.11 0.2408 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.156616 NA NA 0.241793 0.144934 NA 0.188 NA 5.9395736 1066 7 20687181 20687181 C T exonic ABCB5 NA synonymous SNV ABCB5:NM_001163941:exon10:c.C1005T:p.S335S exonic ENSG00000004846 NA synonymous SNV ENSG00000004846:ENST00000404938:exon10:c.C1005T:p.S335S Score=491;Name=lod=132 NA 7p21.1 NA NA NA NA rs2893006 0.19 0.19 0.204 0.219449 0.2068 0.0407 0.1671 0.3986 0.2117 0.21 0.04 0.17 0.37 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 0.457845 NA NA 0.206425 0.379387 NA 0.217 NA 5.9395416 1066 9 114462322 114462322 A G exonic C9orf84 NA nonsynonymous SNV C9orf84:NM_001080551:exon20:c.T2786C:p.L929P,C9orf84:NM_173521:exon22:c.T2903C:p.L968P exonic ENSG00000165181 NA nonsynonymous SNV ENSG00000165181:ENST00000394777:exon19:c.T2681C:p.L894P,ENSG00000165181:ENST00000394779:exon20:c.T2786C:p.L929P,ENSG00000165181:ENST00000318737:exon22:c.T2903C:p.L968P,ENSG00000165181:ENST00000374287:exon24:c.T2903C:p.L968P Score=591;Name=lod=337 NA 9q31.3 NA NA NA NA rs6477845 0.85 0.85 0.833 0.832468 0.7962 0.9266 0.8674 0.7995 0.7924 0.8 0.92 0.87 0.83 0.8121 0.92 0.33 T 0.0 B 0.0 B 0.430 N 0.758 P 0.345 N 3.52 T -1.093 T 0.000 T 0.132 0.319 5.73 -0.713 -0.304 0.328 2.007 0.319163 NA 0.28 0.785714 0.811167 NA 0.804 NA 5.9393194 1066 15 89401109 89401109 A G exonic ACAN NA nonsynonymous SNV ACAN:NM_001135:exon12:c.A5293G:p.I1765V,ACAN:NM_013227:exon12:c.A5293G:p.I1765V exonic ENSG00000157766 NA nonsynonymous SNV ENSG00000157766:ENST00000561243:exon11:c.A5293G:p.I1765V,ENSG00000157766:ENST00000352105:exon12:c.A5293G:p.I1765V,ENSG00000157766:ENST00000439576:exon12:c.A5293G:p.I1765V,ENSG00000157766:ENST00000559004:exon12:c.A5293G:p.I1765V NA NA 15q26.1 Score=692;Name=V$BRACH_01 NA NA NA rs4932439 0.73 0.73 0.779 0.760383 0.8101 0.494 0.6527 0.9909 0.7485 0.82 0.45 0.68 0.99 0.7596 0.99 1 T 0.016 B 0.01 B 0.915 N 0.991 P . . 4.76 T -1.009 T 0.000 T 0.017 -1.432 0.021 1.82 -0.103 -0.059 6.057 -1.432403 NA 1 0.824751 0.960651 NA 0.79 NA 5.9388824 1066 10 22094880 22094880 C A intronic DNAJC1 NA NA NA intronic ENSG00000136770 NA NA NA Score=512;Name=lod=160 NA 10p12.31 NA NA Name=27 NA rs76450805 0.01 0.01 0.006 0.00539137 0.0159 NA 0.013 0.0008 0.001 0.01 NA 0.01 NA 0.0195 0.026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.220285 NA NA 0.025814 0.005447 NA NA NA 5.938786 1066 7 142119831 142119831 G A intergenic LOC730441,MTRNR2L6 dist=147763;dist=254300 NA NA exonic ENSG00000253291 NA synonymous SNV ENSG00000253291:ENST00000390377:exon2:c.C336T:p.A112A Score=304;Name=lod=23 NA 7q34 Score=777;Name=V$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 1066 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$PPARG_02 NA NA NA rs4787643 0.78 0.78 0.757 0.773163 0.673 0.9127 0.7767 0.7693 0.7352 0.69 0.91 0.78 0.75 0.7138 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.46307 1.46307 NA 0.674651 0.7533 NA 0.703 NA 5.938549 1066 19 11319491 11319491 G A exonic DOCK6 NA synonymous SNV DOCK6:NM_020812:exon39:c.C4959T:p.N1653N exonic ENSG00000130158 NA synonymous SNV ENSG00000130158:ENST00000319867:exon25:c.C2976T:p.N992N,ENSG00000130158:ENST00000294618:exon39:c.C4959T:p.N1653N Score=479;Name=lod=118 NA 19p13.2 Score=876;Name=V$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 1066 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 1066 10 7621771 7621771 A G exonic ITIH5 NA synonymous SNV ITIH5:NM_032817:exon5:c.T723C:p.C241C,ITIH5:NM_001001851:exon9:c.T1365C:p.C455C,ITIH5:NM_030569:exon9:c.T1365C:p.C455C exonic ENSG00000123243 NA synonymous SNV ENSG00000123243:ENST00000298441:exon5:c.T723C:p.C241C,ENSG00000123243:ENST00000256861:exon9:c.T1365C:p.C455C,ENSG00000123243:ENST00000397145:exon9:c.T1365C:p.C455C,ENSG00000123243:ENST00000397146:exon9:c.T1365C:p.C455C,ENSG00000123243:ENST00000446830:exon9:c.T711C:p.C237C Score=483;Name=lod=123 NA 10p14 NA NA NA NA rs17431370 0.16 0.16 0.144 0.134984 0.2763 0.006 0.1988 0.1006 0.1237 0.28 0.01 0.22 0.11 0.1979 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.993241 NA NA 0.254884 0.123241 NA 0.08 NA 5.9375826 1066 2 173352103 173352103 C T exonic ITGA6 NA synonymous SNV ITGA6:NM_000210:exon15:c.C2082T:p.D694D,ITGA6:NM_001079818:exon15:c.C2082T:p.D694D exonic ENSG00000091409 NA synonymous SNV ENSG00000091409:ENST00000264107:exon15:c.C2082T:p.D694D,ENSG00000091409:ENST00000343713:exon15:c.C2067T:p.D689D,ENSG00000091409:ENST00000409080:exon15:c.C2082T:p.D694D,ENSG00000091409:ENST00000409532:exon15:c.C1725T:p.D575D,ENSG00000091409:ENST00000458358:exon15:c.C2067T:p.D689D,ENSG00000091409:ENST00000264106:exon16:c.C2199T:p.D733D,ENSG00000091409:ENST00000375221:exon16:c.C2199T:p.D733D,ENSG00000091409:ENST00000442250:exon16:c.C2199T:p.D733D Score=463;Name=lod=102 NA 2q31.1 NA NA NA NA rs2293649 0.33 0.33 0.318 0.346645 0.2217 0.5417 0.3617 0.202 0.4591 0.24 0.55 0.34 0.21 0.2974 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264455 NA NA 0.21 0.218339 NA 0.275 NA 5.9375666 1066 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 1066 3 130187817 130187817 T C exonic COL6A5 NA synonymous SNV COL6A5:NM_153264:exon38:c.T6969C:p.I2323I exonic ENSG00000172752 NA synonymous SNV ENSG00000172752:ENST00000512482:exon3:c.T474C:p.I158I,ENSG00000172752:ENST00000373157:exon4:c.T798C:p.I266I,ENSG00000172752:ENST00000265379:exon38:c.T6969C:p.I2323I,ENSG00000172752:ENST00000312481:exon38:c.T6969C:p.I2323I,ENSG00000172752:ENST00000432398:exon38:c.T6969C:p.I2323I NA NA 3q22.1 NA NA NA NA rs322113 0.89 0.89 0.887 0.890176 0.9115 0.8899 0.9092 0.8253 0.9427 0.91 0.89 0.88 0.84 0.9095 0.91 . . . . . . . . 1.000 P . . . . -1.081 T 0.000 T . -1.57 0.015 -8.9 -2.736 -0.538 5.427 -1.570165 NA NA 0.908461 0.84606 NA 0.877 NA 5.9372056 1066 16 71668634 71668634 T G exonic MARVELD3 NA synonymous SNV MARVELD3:NM_052858:exon3:c.T1134G:p.A378A exonic ENSG00000140832 NA synonymous SNV ENSG00000140832:ENST00000268485:exon3:c.T1134G:p.A378A Score=366;Name=lod=41 NA 16q22.2 NA NA NA NA rs12932850 0.43 0.43 0.383 NA NA NA NA NA NA 0.31 0.73 0.46 0.26 0.3917 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 0.542116 NA NA 0.337791 0.265696 NA 0.326 NA 5.9371756 1066 4 110866442 110866442 G A intronic EGF NA NA NA intronic ENSG00000138798 NA NA NA NA NA 4q25 Score=880;Name=V$AP1_01 Name=eGFP-JunD,FOSL1_(SC-183),JunD,eGFP-FOS,CEBPB,FOSL2,eGFP-JunB,c-Jun Name=24 NA rs4698756 0.42 0.42 0.382 0.435304 0.333 0.505 0.4726 0.4486 0.4243 0.34 0.51 0.46 0.42 0.3882 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.119343 NA NA 0.341977 0.458012 NA 0.507 NA 5.936823 1066 13 60240961 60240961 C T exonic DIAPH3 NA synonymous SNV DIAPH3:NM_001258367:exon26:c.G3201A:p.L1067L,DIAPH3:NM_001258368:exon26:c.G3129A:p.L1043L,DIAPH3:NM_001258366:exon27:c.G3306A:p.L1102L,DIAPH3:NM_001042517:exon28:c.G3339A:p.L1113L exonic ENSG00000139734 NA synonymous SNV ENSG00000139734:ENST00000400319:exon26:c.G3129A:p.L1043L,ENSG00000139734:ENST00000400320:exon26:c.G3201A:p.L1067L,ENSG00000139734:ENST00000377908:exon27:c.G3306A:p.L1102L,ENSG00000139734:ENST00000400324:exon28:c.G3339A:p.L1113L,ENSG00000139734:ENST00000400330:exon28:c.G3339A:p.L1113L Score=588;Name=lod=327 NA 13q21.2 NA NA NA NA rs9538494 0.15 0.15 0.129 0.146965 0.2594 0.1071 0.2147 0.0242 0.1902 0.25 0.1 0.22 0.02 0.2041 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565348 NA NA 0.26644 0.064028 NA 0.138 NA 5.9367266 1066 2 141259376 141259376 G A exonic LRP1B NA synonymous SNV LRP1B:NM_018557:exon55:c.C8730T:p.C2910C exonic ENSG00000168702 NA synonymous SNV ENSG00000168702:ENST00000389484:exon55:c.C8730T:p.C2910C Score=503;Name=lod=147 NA 2q22.1 NA NA NA NA rs35164907 0.14 0.14 0.124 0.126198 0.2465 0.0198 0.1167 0.0613 0.2065 0.27 0.02 0.14 0.08 0.2154 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.834602 NA NA 0.268256 0.086473 NA 0.101 NA 5.9365106 1066 18 60242795 60242795 A C intronic ZCCHC2 NA NA NA intronic ENSG00000141664 NA NA NA Score=456;Name=lod=95 NA 18q21.33 Score=864;Name=V$P300_01 NA NA NA rs76880909 0.01 0.01 0.015 0.0105831 0.0239 0.001 0.013 0.0121 0.0031 0.03 NA 0.01 0.01 0.0171 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 2.937159 2.937159 NA 0.022606 0.010444 NA 0.029 NA 5.936394 1066 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 1066 7 2957005 2957005 T C exonic CARD11 NA synonymous SNV CARD11:NM_032415:exon20:c.A2622G:p.P874P exonic ENSG00000198286 NA synonymous SNV ENSG00000198286:ENST00000396946:exon20:c.A2622G:p.P874P NA NA 7p22.2 Score=850;Name=V$GR_Q6 NA NA NA rs3735124 0.41 0.41 0.41 0.463059 0.2087 0.6101 0.4207 0.5787 0.4468 0.2 0.59 0.36 0.56 0.3154 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.669984 NA NA 0.206909 0.531775 NA 0.304 NA 5.9356576 1067 17 43226887 43226887 A G exonic HEXIM1 NA synonymous SNV HEXIM1:NM_006460:exon1:c.A330G:p.E110E exonic ENSG00000186834 NA synonymous SNV ENSG00000186834:ENST00000332499:exon1:c.A330G:p.E110E NA NA 17q21.31 NA Name=CCNT2,Pol2-4H8,HMGN3,TAF1,HEY1,Pol2(phosphoS2),Pol2,CTCF,TAF7_(SQ-8) NA NA rs12051846 0.2 0.2 0.171 0.198882 0.2734 0.2183 0.1945 0.0477 0.3098 0.27 0.23 0.2 0.04 0.2407 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.090521 NA NA 0.218328 0.068998 NA 0.116 NA 5.9342386 1067 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 1067 8 131124559 131124559 T C exonic ASAP1 NA nonsynonymous SNV ASAP1:NM_018482:exon24:c.A2182G:p.I728V,ASAP1:NM_001247996:exon25:c.A2161G:p.I721V exonic ENSG00000153317 NA nonsynonymous SNV ENSG00000153317:ENST00000357668:exon23:c.A2182G:p.I728V,ENSG00000153317:ENST00000518721:exon24:c.A2182G:p.I728V NA NA 8q24.21 NA NA NA NA rs966185 0.47 0.47 0.468 0.474441 0.4642 0.7153 0.3689 0.2247 0.6493 0.47 0.71 0.37 0.25 0.4759 0.71 0.78 T 0.004 B 0.004 B 0.005 N 0.099 P 0.625 N 3.45 T -0.982 T 0.000 T 0.077 0.348 5.89 -0.54 -0.300 0.633 9.840 0.348337 NA 0.84 0.459535 0.279846 ID=COSM150541;OCCURENCE=1(stomach) 0.471 NA 5.9336984 1067 10 127753478 127753478 G A exonic ADAM12 NA synonymous SNV ADAM12:NM_003474:exon14:c.C1515T:p.N505N,ADAM12:NM_021641:exon14:c.C1515T:p.N505N exonic ENSG00000148848 NA synonymous SNV ENSG00000148848:ENST00000368676:exon14:c.C1515T:p.N505N,ENSG00000148848:ENST00000368679:exon14:c.C1515T:p.N505N Score=532;Name=lod=194 NA 10q26.2 NA NA NA NA rs1278279 0.27 0.27 0.246 0.302716 0.2406 0.1647 0.4294 0.3775 0.318 0.23 0.16 0.38 0.4 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 0.349269 NA NA 0.210349 0.339991 NA 0.152 NA 5.9335176 1067 1 158647522 158647522 A G exonic SPTA1 NA synonymous SNV SPTA1:NM_003126:exon7:c.T915C:p.S305S exonic ENSG00000163554 NA synonymous SNV ENSG00000163554:ENST00000368147:exon7:c.T915C:p.S305S,ENSG00000163554:ENST00000368148:exon7:c.T915C:p.S305S Score=458;Name=lod=97 NA 1q23.1 NA Name=Pol2 NA NA rs703121 0.51 0.51 0.456 0.453874 0.6153 0.5833 0.5058 0.2262 0.4254 0.63 0.55 0.51 0.27 0.5449 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.494329 1.494329 NA 0.573235 0.275166 NA 0.471 NA 5.9332316 1067 8 19362768 19362768 C T exonic CSGALNACT1 NA nonsynonymous SNV CSGALNACT1:NM_001130518:exon4:c.G578A:p.S193N,CSGALNACT1:NM_018371:exon4:c.G578A:p.S193N exonic ENSG00000147408 NA nonsynonymous SNV ENSG00000147408:ENST00000522854:exon2:c.G578A:p.S193N,ENSG00000147408:ENST00000311540:exon3:c.G578A:p.S193N,ENSG00000147408:ENST00000397998:exon3:c.G578A:p.S193N,ENSG00000147408:ENST00000519222:exon3:c.G578A:p.S193N,ENSG00000147408:ENST00000544602:exon3:c.G578A:p.S193N,ENSG00000147408:ENST00000332246:exon4:c.G578A:p.S193N,ENSG00000147408:ENST00000454498:exon4:c.G578A:p.S193N NA NA 8p21.3 NA NA NA NA rs7017776 0.77 0.77 0.729 0.754792 0.7962 0.8601 0.8602 0.6271 0.7014 0.8 0.85 0.84 0.6 0.7966 0.85 0.89 T 0.0 B 0.002 B 0.149 N 1.000 P -0.325 N 2.48 T -0.974 T 0.000 T 0.016 -1.61 0.013 -3.65 -0.691 -0.841 14.514 -1.610305 NA 1 0.807326 0.61507 NA 0.645 NA 5.9332074 1067 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 1067 3 38798171 38798171 C T exonic SCN10A NA synonymous SNV SCN10A:NM_006514:exon9:c.G1284A:p.E428E exonic ENSG00000185313 NA synonymous SNV ENSG00000185313:ENST00000449082:exon9:c.G1284A:p.E428E Score=450;Name=lod=90 NA 3p22.2 NA NA NA NA rs62244070 0.23 0.23 0.231 0.207468 0.2485 0.372 0.1052 0.0794 0.2413 0.25 0.4 0.12 0.08 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 0.681982 NA NA 0.25093 0.107581 NA 0.174 NA 5.9328366 1067 14 88693725 88693725 G C exonic KCNK10 NA synonymous SNV KCNK10:NM_021161:exon4:c.C660G:p.V220V,KCNK10:NM_138317:exon4:c.C675G:p.V225V,KCNK10:NM_138318:exon4:c.C675G:p.V225V exonic ENSG00000100433 NA synonymous SNV ENSG00000100433:ENST00000312350:exon4:c.C675G:p.V225V,ENSG00000100433:ENST00000319231:exon4:c.C675G:p.V225V,ENSG00000100433:ENST00000340700:exon4:c.C660G:p.V220V Score=735;Name=lod=1298 NA 14q31.3 NA NA NA NA rs2277524 0.33 0.33 0.359 0.342053 0.2187 0.4405 0.2032 0.4501 0.32 0.21 0.48 0.19 0.45 0.2773 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.003598 NA NA 0.238256 0.404675 NA 0.435 NA 5.9324106 1067 12 133682655 133682655 A G exonic ZNF140 NA synonymous SNV ZNF140:NM_003440:exon5:c.A792G:p.Q264Q exonic ENSG00000196387 NA synonymous SNV ENSG00000196387:ENST00000544426:exon4:c.A483G:p.Q161Q,ENSG00000196387:ENST00000355557:exon5:c.A792G:p.Q264Q Score=429;Name=lod=74 NA 12q24.33 NA Name=SETDB1,ZNF274 NA NA rs710945 0.52 0.52 0.537 0.547125 0.5795 0.2351 0.438 0.8306 0.5297 0.59 0.2 0.46 0.82 0.5593 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 -0.643035 NA NA 0.595581 0.794144 NA 0.543 NA 5.9322856 1067 3 142277575 142277575 A T exonic ATR NA synonymous SNV ATR:NM_001184:exon8:c.T1776A:p.G592G exonic ENSG00000175054 NA synonymous SNV ENSG00000175054:ENST00000515149:exon4:c.T627A:p.G209G,ENSG00000175054:ENST00000383101:exon7:c.T1584A:p.G528G,ENSG00000175054:ENST00000350721:exon8:c.T1776A:p.G592G Score=439;Name=lod=81 NA 3q23 Score=896;Name=V$CEBP_01 NA NA NA rs2227930 0.62 0.62 0.632 0.598043 0.5865 0.4732 0.5058 0.8533 0.4591 0.58 0.51 0.55 0.85 0.5529 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 0.623677 NA NA 0.595 0.795733 ID=COSM149486;OCCURENCE=1(stomach) 0.529 NA 5.9322666 1067 15 34551082 34551082 G A exonic SLC12A6 NA synonymous SNV SLC12A6:NM_001042497:exon3:c.C430T:p.L144L,SLC12A6:NM_005135:exon4:c.C322T:p.L108L,SLC12A6:NM_133647:exon4:c.C475T:p.L159L,SLC12A6:NM_001042494:exon5:c.C298T:p.L100L,SLC12A6:NM_001042495:exon5:c.C298T:p.L100L,SLC12A6:NM_001042496:exon5:c.C448T:p.L150L exonic ENSG00000140199 NA synonymous SNV ENSG00000140199:ENST00000397707:exon3:c.C430T:p.L144L,ENSG00000140199:ENST00000451844:exon3:c.C58T:p.L20L,ENSG00000140199:ENST00000560332:exon3:c.C58T:p.L20L,ENSG00000140199:ENST00000290209:exon4:c.C322T:p.L108L,ENSG00000140199:ENST00000559664:exon4:c.C475T:p.L159L,ENSG00000140199:ENST00000560164:exon4:c.C58T:p.L20L,ENSG00000140199:ENST00000560611:exon4:c.C475T:p.L159L,ENSG00000140199:ENST00000561080:exon4:c.C475T:p.L159L,ENSG00000140199:ENST00000354181:exon5:c.C475T:p.L159L,ENSG00000140199:ENST00000397702:exon5:c.C298T:p.L100L,ENSG00000140199:ENST00000458406:exon5:c.C298T:p.L100L,ENSG00000140199:ENST00000558589:exon5:c.C448T:p.L150L,ENSG00000140199:ENST00000558667:exon5:c.C475T:p.L159L,ENSG00000140199:ENST00000559523:exon5:c.C298T:p.L100L,ENSG00000140199:ENST00000561120:exon5:c.C448T:p.L150L Score=608;Name=lod=395 NA 15q14 NA NA NA NA rs7164902 0.27 0.27 0.249 0.276757 0.2406 0.3542 0.2161 0.1982 0.3834 0.25 0.36 0.25 0.21 0.2511 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.151748 NA NA 0.243369 0.216038 NA 0.152 NA 5.9315976 1067 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 1067 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=NRSF,CTCF 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 1067 4 68562365 68562365 A G exonic UBA6 NA synonymous SNV UBA6:NM_018227:exon2:c.T132C:p.Y44Y exonic ENSG00000033178 NA synonymous SNV ENSG00000033178:ENST00000322244:exon2:c.T132C:p.Y44Y,ENSG00000033178:ENST00000420827:exon2:c.T132C:p.Y44Y Score=472;Name=lod=111 NA 4q13.2 NA NA NA NA rs17572160 0.21 0.21 0.208 0.184704 0.2575 0.1746 0.2277 0.1906 0.0818 0.26 0.16 0.22 0.17 0.2209 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.437987 1.437987 NA 0.257509 0.195958 NA 0.275 NA 5.9307576 1067 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 1067 7 112102355 112102355 T G exonic IFRD1 NA synonymous SNV IFRD1:NM_001197079:exon8:c.T678G:p.S226S,IFRD1:NM_001197080:exon8:c.T678G:p.S226S,IFRD1:NM_001550:exon8:c.T828G:p.S276S,IFRD1:NM_001007245:exon9:c.T828G:p.S276S exonic ENSG00000006652 NA synonymous SNV ENSG00000006652:ENST00000421296:exon3:c.T33G:p.S11S,ENSG00000006652:ENST00000403825:exon8:c.T828G:p.S276S,ENSG00000006652:ENST00000535603:exon8:c.T678G:p.S226S,ENSG00000006652:ENST00000005558:exon9:c.T828G:p.S276S Score=659;Name=lod=633 NA 7q31.1 NA NA NA NA rs2253962 0.24 0.24 0.243 0.236821 0.2535 0.1915 0.1571 0.3283 0.1994 0.27 0.18 0.16 0.34 0.2378 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.267778 1.267778 NA 0.245116 0.319564 NA 0.254 NA 5.9302506 1067 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 1067 17 80585094 80585094 C T exonic WDR45B NA synonymous SNV WDR45B:NM_019613:exon4:c.G318A:p.K106K exonic ENSG00000141580 NA synonymous SNV ENSG00000141580:ENST00000573616:exon3:c.G216A:p.K72K,ENSG00000141580:ENST00000392325:exon4:c.G318A:p.K106K Score=626;Name=lod=468 NA 17q25.3 NA NA NA NA rs2291393 0.19 0.19 0.171 0.200679 0.2535 0.1548 0.304 0.0991 0.2577 0.25 0.14 0.28 0.11 0.2315 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.209983 NA NA 0.251628 0.111893 NA 0.261 NA 5.9300386 1067 7 112112279 112112279 G A exonic IFRD1 NA synonymous SNV IFRD1:NM_001197079:exon10:c.G897A:p.R299R,IFRD1:NM_001197080:exon10:c.G897A:p.R299R,IFRD1:NM_001550:exon10:c.G1047A:p.R349R,IFRD1:NM_001007245:exon11:c.G1047A:p.R349R exonic ENSG00000006652 NA synonymous SNV ENSG00000006652:ENST00000462155:exon2:c.G36A:p.R12R,ENSG00000006652:ENST00000421296:exon5:c.G252A:p.R84R,ENSG00000006652:ENST00000403825:exon10:c.G1047A:p.R349R,ENSG00000006652:ENST00000535603:exon10:c.G897A:p.R299R,ENSG00000006652:ENST00000005558:exon11:c.G1047A:p.R349R Score=625;Name=lod=464 NA 7q31.1 NA NA NA NA rs2074796 0.24 0.24 0.255 0.246206 0.2525 0.1915 0.1614 0.3623 0.1994 0.27 0.18 0.17 0.35 0.2398 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.374206 1.374206 NA 0.245116 0.344076 NA 0.261 NA 5.9292506 1067 15 63349132 63349132 T A intronic TPM1 NA NA NA UTR5 ENSG00000140416 ENST00000558264:c.-2634T>A NA NA NA NA 15q22.2 NA Name=Pol2-4H8,Pol2 Name=49 NA rs28485524 0.11 0.11 0.098 0.126198 0.1064 0.0456 0.2939 0.0998 0.1462 0.12 0.04 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 0.49473 NA NA 0.131592 0.099886 NA 0.051 NA 5.9286747 1067 5 76343999 76343999 T C exonic AGGF1 NA synonymous SNV AGGF1:NM_018046:exon7:c.T1215C:p.I405I exonic ENSG00000164252 NA synonymous SNV ENSG00000164252:ENST00000312916:exon7:c.T1215C:p.I405I Score=478;Name=lod=117 NA 5q13.3 NA NA NA NA rs13155212 0.21 0.21 0.209 0.222045 0.2386 0.1587 0.2334 0.2352 0.2444 0.25 0.12 0.24 0.23 0.2387 0.26 NA NA 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 0.260875 0.220154 NA 0.152 NA 5.9284916 1067 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 1067 11 6007680 6007680 A G exonic OR52L1 NA nonsynonymous SNV OR52L1:NM_001005173:exon1:c.T481C:p.C161R exonic ENSG00000183313 NA nonsynonymous SNV ENSG00000183313:ENST00000332249:exon1:c.T481C:p.C161R NA NA 11p15.4 NA NA NA NA rs4436524 0.78 0.78 0.752 0.750599 0.8171 0.8631 0.8357 0.562 0.7607 0.81 0.89 0.82 0.57 0.7951 0.89 0.53 T 0.0 B 0.0 B 0.172 N 1.000 P -0.945 N 1.28 T -1.046 T 0.000 T 0.046 -2.731 0 0.241 -0.371 -4.145 2.223 -2.730502 NA 0.56 0.794083 0.625984 ID=COSM429356,COSM429357;OCCURENCE=1(breast) 0.761 NA 5.9270504 1067 4 164440581 164440581 T C exonic TMA16 NA nonsynonymous SNV TMA16:NM_018352:exon7:c.T527C:p.I176T exonic ENSG00000198498 NA nonsynonymous SNV ENSG00000198498:ENST00000358572:exon7:c.T527C:p.I176T NA NA 4q32.2 NA NA NA NA rs1561736 0.41 0.41 0.365 0.382588 0.4742 0.3423 0.6052 0.2526 0.3476 0.48 0.34 0.6 0.25 0.4533 0.6 0.79 T 0.0 B 0.001 B 0.398 N 1.000 P 1.1 L 1.99 T -0.929 T 0.000 T 0.243 -0.428 2.009 -0.516 -0.127 -0.439 3.462 -0.427555 NA 0.18 0.479432 0.276252 ID=COSM149753;OCCURENCE=1(stomach) 0.391 NA 5.9264014 1067 1 54683856 54683856 C G exonic MRPL37 NA synonymous SNV MRPL37:NM_016491:exon7:c.C1206G:p.G402G exonic ENSG00000116221 NA synonymous SNV ENSG00000116221:ENST00000336230:exon5:c.C813G:p.G271G,ENSG00000116221:ENST00000360840:exon7:c.C1206G:p.G402G Score=459;Name=lod=98 NA 1p32.3 NA NA NA NA rs15921 0.36 0.36 0.333 0.405551 0.2078 0.5942 0.3545 0.3502 0.5256 0.21 0.56 0.35 0.37 0.317 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.724238 NA NA 0.216512 0.307535 ID=COSM1162165;OCCURENCE=2(pancreas) 0.268 NA 5.9253546 1067 11 65629934 65629934 G C exonic MUS81 NA nonsynonymous SNV MUS81:NM_025128:exon6:c.G539C:p.R180P exonic ENSG00000172732 NA nonsynonymous SNV ENSG00000172732:ENST00000525768:exon5:c.G314C:p.R105P,ENSG00000172732:ENST00000308110:exon6:c.G539C:p.R180P,ENSG00000172732:ENST00000533035:exon6:c.G314C:p.R105P NA NA 11q13.1 NA NA NA NA rs545500 0.45 0.45 0.44 0.428115 0.668 0.3323 0.4063 0.2012 0.6022 0.67 0.3 0.48 0.24 0.5752 0.67 0.25 T 0.678 P 0.098 B 0.272 N 1.000 P 1.39 L 2.7 T -0.973 T 0.000 T 0.434 2.746 15.14 -1.98 -0.236 -0.071 10.130 2.746351 2.746351 0.11 0.664921 0.255338 NA NA NA 5.9252124 1068 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 1068 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 1068 22 44068193 44068193 G A intronic EFCAB6 NA NA NA intronic ENSG00000186976 NA NA NA NA NA 22q13.2 Score=680;Name=V$BRACH_01 NA Name=2 NA rs77136801 0.01 0.01 0.012 0.0111821 0.0288 0.001 0.0303 NA 0.0051 0.02 0.0017 0.04 NA 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 1.488066 1.488066 NA 0.028488 0.004312 NA 0.072 NA 5.923612 1068 20 2593863 2593863 T C exonic TMC2 NA synonymous SNV TMC2:NM_080751:exon14:c.T1767C:p.S589S exonic ENSG00000149488 NA synonymous SNV ENSG00000149488:ENST00000358864:exon14:c.T1767C:p.S589S NA NA 20p13 Score=866;Name=V$OCT1_06 NA NA NA rs6515646 0.27 0.27 0.255 0.265775 0.2416 0.2937 0.2767 0.208 0.3323 0.25 0.28 0.3 0.23 0.2597 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.727382 NA NA 0.24186 0.218566 NA 0.297 NA 5.9235066 1068 1 17396703 17396703 T C exonic PADI2 NA synonymous SNV PADI2:NM_007365:exon15:c.A1644G:p.L548L exonic ENSG00000117115 NA synonymous SNV ENSG00000117115:ENST00000444885:exon12:c.A1296G:p.L432L,ENSG00000117115:ENST00000375486:exon15:c.A1644G:p.L548L Score=505;Name=lod=150 NA 1p36.13 Score=772;Name=V$MYOGNF1_01 NA NA NA rs2076595 0.47 0.47 0.47 0.444688 0.5905 0.3929 0.536 0.3094 0.4663 0.6 0.43 0.53 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 0.771859 NA NA 0.598953 0.392192 NA 0.522 NA 5.9234136 1068 X 149931106 149931106 C T exonic MTMR1 NA synonymous SNV MTMR1:NM_003828:exon15:c.C1902T:p.G634G exonic ENSG00000063601 NA synonymous SNV ENSG00000063601:ENST00000370390:exon15:c.C1902T:p.G634G,ENSG00000063601:ENST00000544228:exon15:c.C1902T:p.G634G,ENSG00000063601:ENST00000445323:exon16:c.C1926T:p.G642G,ENSG00000063601:ENST00000541925:exon16:c.C1620T:p.G540G Score=520;Name=lod=173 NA Xq28 Score=783;Name=V$PAX5_02 NA NA NA rs16995747 0.85 0.85 0.81558 NA NA NA NA NA NA 0.87 1 0.92 0.6 0.8643 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576233 NA NA 0.879608 0.683181 ID=COSM1466306;OCCURENCE=1(large_intestine) 0.638 NA 5.9227586 1068 8 10383226 10383226 C G exonic PRSS55 NA nonsynonymous SNV PRSS55:NM_001197020:exon1:c.C131G:p.P44R,PRSS55:NM_198464:exon1:c.C131G:p.P44R exonic ENSG00000184647 NA nonsynonymous SNV ENSG00000184647:ENST00000328655:exon1:c.C131G:p.P44R,ENSG00000184647:ENST00000522210:exon1:c.C131G:p.P44R NA NA 8p23.1 NA NA NA NA rs4521726 0.73 0.73 0.743 0.731829 0.8191 0.6815 0.7392 0.6452 0.8057 0.82 0.68 0.73 0.64 0.7923 0.82 0.61 T 0.0 B 0.0 B . . 1.000 P 0.695 N -3.13 D -0.949 T 0.000 T 0.055 -0.911 0.416 -0.835 -1.290 -0.646 . -0.910778 NA 0.26 0.799419 0.685202 NA 0.761 NA 5.9225144 1068 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 1068 22 36682707 36682707 G A intronic MYH9 NA NA NA intronic ENSG00000100345 NA NA NA NA NA 22q12.3 NA Name=CTCF,STAT1,Znf143_(16618-1-AP),CTCF_(C-20),CTCF_(SC-5916),YY1_(C-20),Rad21,ZNF263,SMC3_(ab9263),CTCFL_(SC-98982) Name=144 NA rs13053731 0.03 0.03 0.035 0.0411342 0.0785 NA 0.0418 0.003 0.0961 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 1.005601 NA NA NA NA NA 0.036 NA 5.9215 1068 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 1068 12 1910299 1910299 C T intronic CACNA2D4 NA NA NA intronic ENSG00000151062 NA NA NA NA NA 12p13.33 NA Name=Max,EBF Name=19 NA rs147575839 0.02 0.02 0.015 0.0123802 0.0308 NA 0.0187 0.0083 0.0072 0.03 NA 0.03 0.02 0.0221 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 0.020779 NA NA 0.027511 0.007166 NA 0.014 NA 5.919589 1068 17 74477620 74477620 C T UTR5 RHBDF2 NM_001005498:c.-14G>A,NM_024599:c.-14G>A NA NA UTR5 ENSG00000129667 ENST00000389760:c.-14G>A,ENST00000313080:c.-14G>A,ENST00000591885:c.-14G>A,ENST00000592123:c.-14G>A,ENST00000585989:c.-14G>A,ENST00000589526:c.-14G>A,ENST00000591697:c.-14G>A,ENST00000591879:c.-14G>A,ENST00000585701:c.-14G>A,ENST00000591192:c.-14G>A,ENST00000590322:c.-14G>A,ENST00000590288:c.-14G>A,ENST00000591255:c.-14G>A NA NA NA NA 17q25.1 NA Name=YY1_(C-20),YY1,Pol2 Name=2 NA rs12943385 0.14 0.14 0.143 0.14976 0.1272 0.2113 0.0807 0.0946 0.2331 0.13 0.19 0.09 0.12 0.1525 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 0.478672 NA NA 0.134101 0.105359 NA 0.109 NA 5.9195324 1068 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 1068 15 38794566 38794566 A G exonic RASGRP1 NA synonymous SNV RASGRP1:NM_001128602:exon11:c.T1380C:p.F460F,RASGRP1:NM_005739:exon12:c.T1485C:p.F495F exonic ENSG00000172575 NA synonymous SNV ENSG00000172575:ENST00000560425:exon4:c.T516C:p.F172F,ENSG00000172575:ENST00000414708:exon11:c.T1380C:p.F460F,ENSG00000172575:ENST00000450598:exon11:c.T1380C:p.F460F,ENSG00000172575:ENST00000558164:exon11:c.T1380C:p.F460F,ENSG00000172575:ENST00000558432:exon11:c.T1527C:p.F509F,ENSG00000172575:ENST00000559830:exon11:c.T1380C:p.F460F,ENSG00000172575:ENST00000310803:exon12:c.T1485C:p.F495F,ENSG00000172575:ENST00000539159:exon12:c.T1341C:p.F447F,ENSG00000172575:ENST00000561180:exon12:c.T1638C:p.F546F Score=627;Name=lod=472 NA 15q14 NA NA NA NA rs12324402 0.18 0.18 0.148 0.172324 0.2624 0.006 0.1787 0.1853 0.229 0.25 0.01 0.21 0.23 0.2234 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.226501 NA NA 0.261602 0.196458 NA 0.304 NA 5.9192646 1068 3 38739845 38739845 A G exonic SCN10A NA synonymous SNV SCN10A:NM_006514:exon27:c.T4866C:p.S1622S exonic ENSG00000185313 NA synonymous SNV ENSG00000185313:ENST00000449082:exon27:c.T4866C:p.S1622S Score=600;Name=lod=365 NA 3p22.2 Score=804;Name=V$FREAC3_01 NA NA NA rs6599242 0.94 0.94 0.942 0.92472 0.9125 0.9514 0.9121 0.969 0.8589 0.91 0.97 0.9 0.97 0.9199 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 0.663118 NA NA 0.915116 0.960508 NA 0.964 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081424.1;CLNDSDB=.;CLNDSDBID=. 5.9191506 1068 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 1068 4 103611845 103611845 C T exonic MANBA NA nonsynonymous SNV MANBA:NM_005908:exon6:c.G757A:p.V253I exonic ENSG00000109323 NA nonsynonymous SNV ENSG00000109323:ENST00000505239:exon5:c.G586A:p.V196I,ENSG00000109323:ENST00000226578:exon6:c.G757A:p.V253I NA NA 4q24 NA NA NA NA rs227368 0.4 0.4 0.387 0.376597 0.497 0.4732 0.3545 0.1195 0.5164 0.5 0.5 0.38 0.12 0.4427 0.5 0.34 T 0.037 B 0.003 B 0.012 N 1.000 P 1.135 L 0.5 T -0.903 T 0.000 T 0.029 0.626 7.365 1.29 0.016 -0.243 8.922 0.625609 NA 0.45 0.474535 0.210849 NA 0.217 NA 5.9190984 1068 5 112162854 112162854 T C exonic APC NA synonymous SNV APC:NM_001127511:exon10:c.T1404C:p.Y468Y,APC:NM_000038:exon12:c.T1458C:p.Y486Y,APC:NM_001127510:exon13:c.T1458C:p.Y486Y exonic ENSG00000134982 NA synonymous SNV ENSG00000134982:ENST00000504915:exon3:c.T147C:p.Y49Y,ENSG00000134982:ENST00000507379:exon10:c.T1404C:p.Y468Y,ENSG00000134982:ENST00000257430:exon12:c.T1458C:p.Y486Y,ENSG00000134982:ENST00000457016:exon12:c.T1458C:p.Y486Y,ENSG00000134982:ENST00000512211:exon12:c.T1458C:p.Y486Y,ENSG00000134982:ENST00000508376:exon13:c.T1458C:p.Y486Y Score=634;Name=lod=502 NA 5q22.2 NA NA NA NA rs2229992 0.53 0.53 0.489 0.509984 0.5795 0.6647 0.6671 0.1619 0.638 0.6 0.69 0.64 0.17 0.578 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 1.133379 NA NA 0.590233 0.21208 ID=COSM1432175;OCCURENCE=1(large_intestine) 0.435 CLINSIG=non-pathogenic|other|non-pathogenic;CLNDBN=not_specified|Familial_colorectal_cancer|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=mult|single|single;CLNACC=RCV000035064.2|RCV000074147.1|RCV000131423.1;CLNDSDB=.|MedGen:OMIM|MedGen;CLNDSDBID=.|CN029768:114500|C0027672 5.9189336 1068 10 64415413 64415413 T A intronic ZNF365 NA NA NA intronic ENSG00000138311 NA NA NA Score=598;Name=lod=359 NA 10q21.2 NA Name=YY1,PU.1,PAX5-N19,EBF,JunD,Oct-2,BATF,SP1,YY1_(C-20),MEF2C_(SC-13268),PAX5-C20,RXRA,BCL11A,EBF1_(C-8),MEF2A,IRF4_(M-17),NFKB,BCL3,CHD2_(N-1250),Pol2,POU2F2,p300,TCF12 Name=7 NA rs7094595 0.35 0.35 0.348 0.3125 0.3608 0.6012 0.2017 0.0787 0.3599 0.38 0.59 0.24 0.09 0.348 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.253659 2.253659 NA 0.372326 0.119156 NA 0.377 NA 5.918874 1068 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 1068 14 107170207 107170207 C T intergenic LINC00221,NONE dist=218678;dist=NONE NA NA exonic ENSG00000211973 NA synonymous SNV ENSG00000211973:ENST00000390633:exon2:c.G75A:p.Q25Q Score=243;Name=lod=13 NA 14q32.33 NA Name=Pol2 NA NA rs11845287 0.18 0.18 0.139 0.167732 0.2068 0.1677 0.1671 0.1536 0.1472 0.21 0.13 0.19 0.17 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 -0.445331 NA NA 0.188014 0.14607 ID=COSN164829;OCCURENCE=1(breast) 0.072 NA 5.917686 1068 15 40685850 40685850 A G UTR3 KNSTRN NM_001142761:c.*418A>G,NM_001142762:c.*215A>G,NM_033286:c.*52A>G NA NA UTR3 ENSG00000128944 ENST00000249776:c.*52A>G,ENST00000560981:c.*579A>G,ENST00000416151:c.*418A>G,ENST00000448395:c.*215A>G,ENST00000560321:c.*526A>G,ENST00000561169:c.*504A>G NA NA NA NA 15q15.1 NA Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) Name=6 NA rs11541643 0.12 0.12 0.127 0.115415 0.1431 0.0129 0.0922 0.1929 0.1043 0.17 0.01 0.1 0.21 0.1324 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.87052 NA NA 0.140339 0.163894 NA 0.174 NA 5.9174944 1068 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 1068 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 1068 5 96062618 96062618 G A intronic CAST NA NA NA intronic ENSG00000153113 NA NA NA NA NA 5q15 NA Name=CEBPB Name=14 NA rs75508776 0.02 0.02 0.018 0.0109824 0.0388 NA 0.0115 0.003 0.0041 0.04 NA 0.01 0.002 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 0.383782 NA NA 0.04494 0.004335 NA NA NA 5.91626 1068 20 36946848 36946848 G A exonic BPI NA nonsynonymous SNV BPI:NM_001725:exon6:c.G646A:p.E216K exonic ENSG00000101425 NA nonsynonymous SNV ENSG00000101425:ENST00000262865:exon6:c.G646A:p.E216K NA NA 20q11.23 NA NA NA NA rs4358188 0.41 0.41 0.38 0.435104 0.4632 0.2173 0.4323 0.5356 0.4969 0.48 0.2 0.42 0.53 0.4624 0.53 1 T 0.001 B 0.0 B 0.244 N 1.000 P -2.125 N 3.73 T -0.907 T 0.000 T 0.528 -0.788 0.708 0.595 0.316 -0.543 3.885 -0.788261 NA 1 0.491628 0.502497 ID=COSM149171;OCCURENCE=1(stomach) 0.486 NA 5.9161054 1068 9 17135115 17135115 C T exonic CNTLN NA synonymous SNV CNTLN:NM_001114395:exon1:c.C52T:p.L18L,CNTLN:NM_017738:exon1:c.C52T:p.L18L exonic ENSG00000044459 NA synonymous SNV ENSG00000044459:ENST00000262360:exon1:c.C52T:p.L18L,ENSG00000044459:ENST00000380641:exon1:c.C52T:p.L18L,ENSG00000044459:ENST00000380647:exon1:c.C52T:p.L18L,ENSG00000044459:ENST00000425824:exon1:c.C52T:p.L18L NA NA 9p22.2 NA Name=Pol2-4H8,TAF1,E2F1,HEY1,HA-E2F1,GATA-2,Pol2,YY1,TBP,YY1_(C-20) NA NA rs41306071 0.17 0.17 0.147 0.13139 0.2396 0.1548 0.1484 0.0643 0.0746 0.25 0.16 0.19 0.08 0.2378 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399414 NA NA 0.273291 0.09938 ID=COSM455715;OCCURENCE=1(breast) 0.087 NA 5.9159756 1068 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 1068 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 1068 4 121706201 121706201 A G exonic PRDM5 NA synonymous SNV PRDM5:NM_018699:exon11:c.T1234C:p.L412L exonic ENSG00000138738 NA synonymous SNV ENSG00000138738:ENST00000428209:exon10:c.T1141C:p.L381L,ENSG00000138738:ENST00000515109:exon10:c.T1141C:p.L381L,ENSG00000138738:ENST00000264808:exon11:c.T1234C:p.L412L Score=536;Name=lod=201 NA 4q27 NA NA NA NA rs12499000 0.18 0.18 0.155 0.13738 0.2674 0.1895 0.1931 0.0113 0.0808 0.26 0.2 0.23 0.01 0.2115 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.31801 1.31801 NA 0.272558 0.057876 ID=COSM149732;OCCURENCE=1(stomach) 0.123 NA 5.9152086 1069 20 2591232 2591232 C T exonic TMC2 NA synonymous SNV TMC2:NM_080751:exon12:c.C1581T:p.D527D exonic ENSG00000149488 NA synonymous SNV ENSG00000149488:ENST00000358864:exon12:c.C1581T:p.D527D NA NA 20p13 NA Name=Egr-1 NA NA rs6050576 0.29 0.29 0.287 0.314097 0.2356 0.2758 0.2767 0.4032 0.3405 0.25 0.26 0.31 0.37 0.2776 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46777 NA NA 0.238953 0.378575 NA 0.384 NA 5.9145136 1069 11 1253942 1253942 T C exonic MUC5B NA synonymous SNV MUC5B:NM_002458:exon17:c.T2007C:p.Y669Y exonic ENSG00000117983 NA synonymous SNV ENSG00000117983:ENST00000447027:exon17:c.T2016C:p.Y672Y,ENSG00000117983:ENST00000529681:exon17:c.T2007C:p.Y669Y Score=389;Name=lod=51 NA 11p15.5 NA Name=Pol2 NA NA rs908229 NA NA 0.673 0.544928 0.498 0.6548 0.6081 0.4803 0.5225 NA NA NA NA 0.644 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.689283 NA NA 0.610353 0.6 NA 0.565 NA 5.9143136 1069 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 1069 6 158870081 158870081 A G exonic TULP4 NA synonymous SNV TULP4:NM_001007466:exon4:c.A597G:p.R199R,TULP4:NM_020245:exon4:c.A597G:p.R199R exonic ENSG00000130338 NA synonymous SNV ENSG00000130338:ENST00000367094:exon4:c.A597G:p.R199R,ENSG00000130338:ENST00000367097:exon4:c.A597G:p.R199R Score=613;Name=lod=415 NA 6q25.3 Score=674;Name=V$P53_01 NA NA NA rs705956 0.59 0.59 0.599 0.605431 0.5895 0.3968 0.5288 0.7844 0.6493 0.6 0.4 0.57 0.79 0.5811 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 1.792956 1.792956 NA 0.582442 0.765093 NA 0.732 NA 5.9136246 1069 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$FREAC7_01 NA NA NA rs3097146 0.52 0.52 0.483 0.48103 0.5875 0.7897 0.6095 0.1036 0.4724 0.59 0.75 0.58 0.11 0.5602 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.957073 NA NA 0.605581 0.191784 NA 0.536 NA 5.9133856 1069 19 6417855 6417855 G A intronic KHSRP NA NA NA intronic ENSG00000088247 NA NA NA Score=389;Name=lod=51 NA 19p13.3 NA Name=CTCF,CTCF_(SC-5916),Rad21 Name=49 NA rs2258496 0.45 0.45 0.41 0.422923 0.3539 0.4603 0.6196 0.4614 0.2638 0.36 0.47 0.58 0.45 0.3867 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.800285 NA NA 0.346391 0.411186 NA 0.283 NA 5.913009 1069 16 81145976 81145976 C T exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN NA NA 16q23.2 Score=780;Name=V$PAX5_02 NA NA NA rs145784865 0.02 0.02 0.015 0.0101837 0.0338 NA 0.0216 0.0008 0.001 0.04 NA 0.03 0.002 0.0231 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 1.018066 NA 0.08 0.030212 0.007474 NA NA NA 5.912888 1069 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$AREB6_02 NA NA NA rs1051861 0.51 0.51 0.492 0.531949 0.5915 0.4762 0.683 0.3563 0.6585 0.57 0.47 0.64 0.36 0.5737 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.320341 NA NA 0.588605 0.391966 NA 0.558 NA 5.9128616 1069 12 68052178 68052178 G T exonic DYRK2 NA synonymous SNV DYRK2:NM_003583:exon2:c.G1272T:p.G424G,DYRK2:NM_006482:exon3:c.G1491T:p.G497G exonic ENSG00000127334 NA synonymous SNV ENSG00000127334:ENST00000393555:exon2:c.G1272T:p.G424G,ENSG00000127334:ENST00000344096:exon3:c.G1491T:p.G497G Score=552;Name=lod=234 NA 12q15 Score=868;Name=V$P300_01 NA NA NA rs3741644 0.55 0.55 0.506 0.510982 0.5726 0.6052 0.6037 0.3192 0.544 0.58 0.63 0.61 0.38 0.5974 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.355909 NA NA 0.585 0.354744 NA 0.449 NA 5.9116666 1069 7 149556518 149556518 C T exonic ZNF862 NA synonymous SNV ZNF862:NM_001099220:exon6:c.C1125T:p.A375A exonic ENSG00000106479 NA synonymous SNV ENSG00000106479:ENST00000223210:exon6:c.C1125T:p.A375A Score=450;Name=lod=90 NA 7q36.1 Score=845;Name=V$COMP1_01 NA NA NA rs4725833 0.56 0.56 0.616 0.527356 0.5795 0.3323 0.4452 0.7973 0.3681 0.59 0.38 0.49 0.79 0.5705 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 -0.086717 NA NA 0.605011 0.778693 NA 0.522 NA 5.9116556 1069 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 1069 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 1069 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 1069 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 1069 1 159002377 159002377 C A exonic IFI16 NA nonsynonymous SNV IFI16:NM_001206567:exon6:c.C1057A:p.R353S,IFI16:NM_005531:exon7:c.C1225A:p.R409S exonic ENSG00000163565 NA nonsynonymous SNV ENSG00000163565:ENST00000359709:exon6:c.C1057A:p.R353S,ENSG00000163565:ENST00000430894:exon6:c.C1069A:p.R357S,ENSG00000163565:ENST00000448393:exon6:c.C1225A:p.R409S,ENSG00000163565:ENST00000295809:exon7:c.C1225A:p.R409S,ENSG00000163565:ENST00000340979:exon7:c.C1225A:p.R409S,ENSG00000163565:ENST00000368131:exon7:c.C1225A:p.R409S,ENSG00000163565:ENST00000368132:exon7:c.C1225A:p.R409S NA NA 1q23.1 NA NA NA NA rs1057027 0.68 0.68 0.63 0.63099 0.838 0.5883 0.8689 0.3207 0.7127 0.85 0.66 0.87 0.3 0.7674 0.87 1 T 0.0 B 0.001 B . . 1.000 P -1.445 N 3.87 T -0.924 T 0.006 T 0.055 -1.804 0.009 2.15 0.257 0.250 5.220 -1.803729 NA 0.54 0.817209 0.430095 NA 0.522 NA 5.9107244 1069 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 1069 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 1069 16 24801979 24801979 C T exonic TNRC6A NA synonymous SNV TNRC6A:NM_014494:exon6:c.C2016T:p.S672S exonic ENSG00000090905 NA synonymous SNV ENSG00000090905:ENST00000315183:exon6:c.C2016T:p.S672S,ENSG00000090905:ENST00000395799:exon6:c.C2016T:p.S672S Score=571;Name=lod=278 NA 16p12.1 NA NA NA NA rs13336754 0.18 0.18 0.192 0.166334 0.2763 0.002 0.1427 0.2693 0.1002 0.27 NA 0.15 0.27 0.2124 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285302 NA NA 0.267907 0.298589 NA 0.275 NA 5.9100596 1069 3 113176122 113176122 G A exonic SPICE1 NA synonymous SNV SPICE1:NM_144718:exon13:c.C1518T:p.P506P exonic ENSG00000163611 NA synonymous SNV ENSG00000163611:ENST00000295872:exon13:c.C1518T:p.P506P Score=440;Name=lod=82 NA 3q13.2 NA NA NA NA rs7637618 0.31 0.31 0.325 0.327875 0.2455 0.2996 0.1758 0.5772 0.2127 0.24 0.28 0.2 0.54 0.2597 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30484 NA NA 0.251628 0.531094 NA 0.341 NA 5.9098386 1069 1 166958601 166958601 T C exonic MAEL NA synonymous SNV MAEL:NM_032858:exon1:c.T12C:p.R4R exonic ENSG00000143194 NA synonymous SNV ENSG00000143194:ENST00000367870:exon1:c.T12C:p.R4R,ENSG00000143194:ENST00000367872:exon1:c.T12C:p.R4R,ENSG00000143194:ENST00000447624:exon1:c.T12C:p.R4R Score=460;Name=lod=99 NA 1q24.1 NA NA NA NA rs2296837 0.29 0.29 0.318 0.301917 0.2247 0.247 0.1715 0.559 0.183 0.22 0.27 0.17 0.53 0.2841 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.770132 1.770132 NA 0.248256 0.521335 NA 0.341 NA 5.9096106 1069 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 1069 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 1069 9 4679906 4679906 A G intronic CDC37L1 NA NA NA intronic ENSG00000106993 NA NA NA NA NA 9p24.1 Score=910;Name=V$AREB6_01 Name=Pol2,CTCF Name=3 NA rs2295964 0.51 0.51 0.512 0.570687 0.3181 0.6032 0.3963 0.8404 0.5562 0.3 0.59 0.42 0.81 0.4303 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.621106 1.621106 NA 0.342332 0.767167 NA 0.478 NA 5.909268 1069 7 120776097 120776097 C G exonic CPED1 NA nonsynonymous SNV CPED1:NM_001105533:exon13:c.C1652G:p.A551G,CPED1:NM_024913:exon14:c.C1652G:p.A551G exonic ENSG00000106034 NA nonsynonymous SNV ENSG00000106034:ENST00000443817:exon10:c.C992G:p.A331G,ENSG00000106034:ENST00000423795:exon11:c.C992G:p.A331G,ENSG00000106034:ENST00000450913:exon13:c.C1652G:p.A551G,ENSG00000106034:ENST00000310396:exon14:c.C1652G:p.A551G NA NA 7q31.31 NA NA NA NA rs41281692 0.53 0.53 0.474 0.492812 0.4801 0.8552 0.6167 0.202 0.4376 0.48 0.85 0.57 0.2 0.5027 0.85 0.36 T 0.403 B 0.221 B 0.811 N 1.000 P 0.69 N 2.18 T -1.014 T 0.000 T 0.11 0.854 8.454 -0.512 0.040 -0.738 2.661 0.853694 NA 0.01 0.441416 0.258189 NA 0.413 NA 5.9091174 1069 17 6014176 6014176 A G exonic WSCD1 NA synonymous SNV WSCD1:NM_015253:exon7:c.A1095G:p.T365T exonic ENSG00000179314 NA synonymous SNV ENSG00000179314:ENST00000573634:exon6:c.A747G:p.T249T,ENSG00000179314:ENST00000317744:exon7:c.A1095G:p.T365T,ENSG00000179314:ENST00000539421:exon7:c.A1095G:p.T365T,ENSG00000179314:ENST00000574232:exon7:c.A1095G:p.T365T,ENSG00000179314:ENST00000574946:exon7:c.A1095G:p.T365T NA NA 17p13.2 Score=880;Name=V$E47_02 Name=JunD,c-Fos,Max,FOSL2,USF-1 Name=39 NA rs2302837 0.91 0.91 0.901 0.901757 0.9115 0.9504 0.9352 0.8041 0.9499 0.91 0.96 0.93 0.82 0.9203 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 0.594957 NA NA 0.926047 0.822969 NA 0.848 NA 5.9088196 1069 1 23418153 23418153 C T exonic LUZP1 NA nonsynonymous SNV LUZP1:NM_001142546:exon3:c.G2602A:p.D868N,LUZP1:NM_033631:exon4:c.G2602A:p.D868N exonic ENSG00000169641 NA nonsynonymous SNV ENSG00000169641:ENST00000314174:exon2:c.G2602A:p.D868N,ENSG00000169641:ENST00000374623:exon2:c.G2602A:p.D868N,ENSG00000169641:ENST00000418342:exon3:c.G2602A:p.D868N,ENSG00000169641:ENST00000302291:exon4:c.G2602A:p.D868N NA NA 1p36.12 NA NA NA NA rs10799790 0.79 0.79 0.794 0.746206 0.827 0.8065 0.6225 0.8404 0.5613 0.83 0.79 0.64 0.83 0.7686 0.83 1 T 0.0 B 0.0 B 0.012 N 1.000 P -1.79 N 2.87 T -1.004 T 0.000 T 0.012 -0.212 2.972 2.74 0.315 0.800 6.231 -0.212251 NA 1 0.829302 0.818656 NA 0.855 NA 5.9084314 1069 13 115002305 115002305 G A exonic CDC16 NA synonymous SNV CDC16:NM_001078645:exon3:c.G135A:p.Q45Q,CDC16:NM_003903:exon3:c.G135A:p.Q45Q exonic ENSG00000130177 NA synonymous SNV ENSG00000130177:ENST00000252457:exon3:c.G132A:p.Q44Q,ENSG00000130177:ENST00000356221:exon3:c.G135A:p.Q45Q,ENSG00000130177:ENST00000360383:exon3:c.G135A:p.Q45Q Score=541;Name=lod=211 NA 13q34 NA NA NA NA rs8002514 0.32 0.32 0.346 0.341653 0.2584 0.1587 0.2767 0.5825 0.3364 0.25 0.19 0.27 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 -1.117672 NA NA 0.231512 0.516795 NA 0.333 NA 5.9082546 1069 20 61443870 61443870 C G exonic OGFR NA synonymous SNV OGFR:NM_007346:exon7:c.C903G:p.P301P exonic ENSG00000060491 NA synonymous SNV ENSG00000060491:ENST00000370461:exon5:c.C747G:p.P249P,ENSG00000060491:ENST00000290291:exon7:c.C903G:p.P301P,ENSG00000060491:ENST00000370468:exon7:c.C903G:p.P301P NA NA 20q13.33 NA NA Name=2 NA rs11086139 0.2 0.2 0.17 0.168131 0.2475 0.0357 0.1542 0.2814 0.0798 0.25 0.04 0.19 0.3 0.2827 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.133695 NA NA 0.22873 0.258908 NA 0.261 NA 5.9077366 1069 19 17448961 17448961 A C exonic GTPBP3 NA synonymous SNV GTPBP3:NM_001128855:exon2:c.A198C:p.T66T,GTPBP3:NM_001195422:exon2:c.A264C:p.T88T,GTPBP3:NM_032620:exon2:c.A198C:p.T66T,GTPBP3:NM_133644:exon2:c.A198C:p.T66T exonic ENSG00000130299 NA nonsynonymous SNV ENSG00000130299:ENST00000601213:exon2:c.A253C:p.S85R,ENSG00000130299:ENST00000602165:exon2:c.A181C:p.S61R NA NA 19p13.11 NA Name=YY1,ZBTB7A_(SC-34508),CCNT2,HMGN3,TAF1,E2F6_(H-50),HA-E2F1,Pol2 Name=26 NA rs1864112 0.6 0.6 0.619 0.623602 0.7217 0.2956 0.4885 0.8669 0.6278 0.73 0.24 0.53 0.86 0.6631 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 -0.015348 NA NA 0.707477 0.853614 NA 0.732 NA 5.907723 1069 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 1069 1 158631171 158631171 A C exonic SPTA1 NA synonymous SNV SPTA1:NM_003126:exon18:c.T2493G:p.L831L exonic ENSG00000163554 NA synonymous SNV ENSG00000163554:ENST00000368147:exon18:c.T2493G:p.L831L,ENSG00000163554:ENST00000368148:exon18:c.T2493G:p.L831L Score=545;Name=lod=219 NA 1q23.1 NA NA NA NA rs2518493 0.27 0.27 0.222 0.24361 0.2525 0.4087 0.3026 0.1407 0.1616 0.25 0.38 0.27 0.15 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 0.859157 NA NA 0.244541 0.183386 NA 0.239 NA 5.9072256 1069 6 51732807 51732807 C T exonic PKHD1 NA synonymous SNV PKHD1:NM_138694:exon48:c.G7587A:p.G2529G,PKHD1:NM_170724:exon48:c.G7587A:p.G2529G exonic ENSG00000170927 NA synonymous SNV ENSG00000170927:ENST00000340994:exon48:c.G7587A:p.G2529G,ENSG00000170927:ENST00000371117:exon48:c.G7587A:p.G2529G Score=525;Name=lod=181 NA 6p12.3 NA NA NA NA rs12210295 0.4 0.4 0.397 0.367612 0.6213 0.1518 0.4006 0.3018 0.3947 0.61 0.15 0.47 0.31 0.5067 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321667 NA NA 0.631542 0.347935 ID=COSM1179828,COSM1179827;OCCURENCE=1(prostate) 0.493 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082571.1;CLNDSDB=.;CLNDSDBID=. 5.9071246 1069 21 45217929 45217929 T C exonic RRP1 NA synonymous SNV RRP1:NM_003683:exon8:c.T759C:p.G253G exonic ENSG00000160214 NA synonymous SNV ENSG00000160214:ENST00000497547:exon8:c.T759C:p.G253G NA NA 21q22.3 Score=795;Name=V$OLF1_01 NA NA NA rs2838379 0.35 0.35 0.368 0.402756 0.2087 0.3204 0.3631 0.6104 0.4346 0.21 0.33 0.31 0.62 0.3102 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011236 NA NA 0.240841 0.546288 NA 0.399 NA 5.9069256 1069 6 155750035 155750035 C T exonic NOX3 NA synonymous SNV NOX3:NM_015718:exon9:c.G1038A:p.E346E exonic ENSG00000074771 NA synonymous SNV ENSG00000074771:ENST00000159060:exon9:c.G1038A:p.E346E Score=521;Name=lod=174 NA 6q25.3 Score=768;Name=V$STAT5A_02 NA NA NA rs231954 0.71 0.71 0.716 0.737819 0.5666 0.9137 0.6297 0.7549 0.7863 0.59 0.91 0.62 0.73 0.6399 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 0.985189 NA NA 0.553488 0.718793 NA 0.688 NA 5.9066786 1070 10 29840164 29840164 A G exonic SVIL NA synonymous SNV SVIL:NM_021738:exon6:c.T189C:p.S63S,SVIL:NM_003174:exon8:c.T189C:p.S63S exonic ENSG00000197321 NA synonymous SNV ENSG00000197321:ENST00000355867:exon6:c.T189C:p.S63S,ENSG00000197321:ENST00000375398:exon8:c.T189C:p.S63S,ENSG00000197321:ENST00000375400:exon8:c.T189C:p.S63S Score=474;Name=lod=113 NA 10p11.23 NA NA NA NA rs3740002 0.27 0.27 0.238 0.254992 0.2376 0.3462 0.245 0.2337 0.2147 0.24 0.33 0.25 0.25 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 1.455544 1.455544 NA 0.259651 0.263277 NA 0.29 NA 5.9043156 1070 18 3168816 3168816 G A exonic MYOM1 NA synonymous SNV MYOM1:NM_003803:exon9:c.C1338T:p.N446N,MYOM1:NM_019856:exon9:c.C1338T:p.N446N exonic ENSG00000101605 NA synonymous SNV ENSG00000101605:ENST00000261606:exon9:c.C1338T:p.N446N,ENSG00000101605:ENST00000356443:exon9:c.C1338T:p.N446N,ENSG00000101605:ENST00000400569:exon9:c.C1338T:p.N446N Score=566;Name=lod=267 NA 18p11.31 NA NA NA NA rs2230167 0.27 0.27 0.278 0.282149 0.2356 0.2798 0.2061 0.3313 0.32 0.24 0.26 0.24 0.34 0.262 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.05802 2.05802 NA 0.264827 0.310538 NA 0.297 NA 5.9042396 1070 6 137113137 137113137 G A exonic MAP3K5 NA synonymous SNV MAP3K5:NM_005923:exon1:c.C159T:p.S53S exonic ENSG00000197442 NA synonymous SNV ENSG00000197442:ENST00000359015:exon1:c.C159T:p.S53S Score=460;Name=lod=99 NA 6q23.3 NA Name=Pol2,Pol2-4H8,EBF1_(C-8),ZNF263 NA NA rs55666429 0.56 0.56 0.55 0.560903 0.5626 0.5665 0.6383 0.5257 0.546 0.59 0.55 0.64 0.47 0.6033 0.64 NA NA 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 0.597013 0.550096 NA 0.623 NA 5.9037536 1070 4 110914427 110914427 A T exonic EGF NA nonsynonymous SNV EGF:NM_001178131:exon18:c.A2633T:p.E878V,EGF:NM_001963:exon19:c.A2759T:p.E920V exonic ENSG00000138798 NA nonsynonymous SNV ENSG00000138798:ENST00000509793:exon18:c.A2633T:p.E878V,ENSG00000138798:ENST00000265171:exon19:c.A2759T:p.E920V NA NA 4q25 NA NA NA NA rs4698803 0.91 0.91 0.916 0.920527 0.7992 1 0.9121 0.9849 0.8824 0.8 1 0.91 0.98 0.8407 1 0.44 T 0.0 B 0.0 B 0.066 N 1.000 P 0.305 N 2.01 T -0.902 T 0.000 T 0.038 -2.317 0.004 1.32 -0.129 -1.915 3.243 -2.31728 NA 1 0.790116 0.963686 ID=COSM1426371;OCCURENCE=1(large_intestine) 0.971 NA 5.9033174 1070 20 62327199 62327199 A G ncRNA_exonic RTEL1-TNFRSF6B NA NA NA exonic ENSG00000026036,ENSG00000258366 NA synonymous SNV ENSG00000258366:ENST00000370003:exon11:c.A1626G:p.P542P,ENSG00000026036:ENST00000482936:exon34:c.A3891G:p.P1297P,ENSG00000258366:ENST00000318100:exon35:c.A3891G:p.P1297P,ENSG00000258366:ENST00000360203:exon35:c.A3891G:p.P1297P NA NA 20q13.33 NA Name=Pol2 NA NA rs1056990 0.03 0.03 0.025 0.0273562 0.0775 NA 0.0447 0.0023 0.0256 0.08 NA 0.03 0.0041 0.0923 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 -0.401304 NA NA 0.093706 0.019558 NA 0.043 NA 5.9031606 1070 2 197021276 197021276 T C exonic STK17B NA synonymous SNV STK17B:NM_004226:exon3:c.A222G:p.R74R exonic ENSG00000081320 NA synonymous SNV ENSG00000081320:ENST00000606789:exon1:c.A96G:p.R32R,ENSG00000081320:ENST00000263955:exon3:c.A222G:p.R74R,ENSG00000081320:ENST00000409228:exon3:c.A222G:p.R74R Score=515;Name=lod=165 NA 2q32.3 Score=786;Name=V$COMP1_01 NA NA NA rs10931726 0.49 0.49 0.474 0.470248 0.6103 0.5536 0.5893 0.1006 0.6554 0.62 0.58 0.57 0.12 0.565 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.24914 1.24914 NA 0.588372 0.185429 NA 0.442 NA 5.9029946 1070 14 65245962 65245962 A G exonic SPTB NA synonymous SNV SPTB:NM_000347:exon21:c.T4476C:p.L1492L,SPTB:NM_001024858:exon21:c.T4476C:p.L1492L exonic ENSG00000070182 NA synonymous SNV ENSG00000070182:ENST00000553938:exon3:c.T471C:p.L157L,ENSG00000070182:ENST00000389720:exon21:c.T4476C:p.L1492L,ENSG00000070182:ENST00000389721:exon21:c.T4476C:p.L1492L,ENSG00000070182:ENST00000389722:exon21:c.T4476C:p.L1492L,ENSG00000070182:ENST00000542895:exon22:c.T4476C:p.L1492L,ENSG00000070182:ENST00000556626:exon22:c.T4476C:p.L1492L Score=550;Name=lod=230 NA 14q23.3 NA NA NA NA rs1741487 0.35 0.35 0.366 0.411941 0.2445 0.3532 0.1657 0.7012 0.4284 0.24 0.34 0.19 0.67 0.2814 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 1.760387 1.760387 NA 0.237791 0.604176 NA 0.348 NA 5.9029756 1070 X 117700141 117700141 A G exonic DOCK11 NA synonymous SNV DOCK11:NM_144658:exon8:c.A867G:p.A289A exonic ENSG00000147251 NA synonymous SNV ENSG00000147251:ENST00000276202:exon8:c.A867G:p.A289A,ENSG00000147251:ENST00000276204:exon8:c.A867G:p.A289A NA NA Xq24 NA Name=CCNT2 NA NA rs2286977 0.37 0.37 0.37997 NA NA NA NA NA NA 0.37 0.56 0.36 0.16 0.3942 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.506313 NA NA 0.369946 0.184355 ID=COSM1179702;OCCURENCE=1(prostate) 0.159 NA 5.9025206 1070 21 43846801 43846801 T C intronic UBASH3A NA NA NA intronic ENSG00000160185 NA NA NA NA NA 21q22.3 NA Name=PU.1 Name=6 NA rs973344 0.02 0.02 0.023 0.0225639 0.0437 NA 0.0274 0.0287 0.0123 0.04 NA 0.03 0.02 0.0309 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 -0.430301 NA NA 0.02314 0.019292 NA NA NA 5.90226 1070 9 125390874 125390874 A C exonic OR1B1 NA nonsynonymous SNV OR1B1:NM_001004450:exon1:c.T941G:p.V314G exonic ENSG00000171484 NA nonsynonymous SNV ENSG00000171484:ENST00000304833:exon1:c.T941G:p.V314G NA NA 9q33.2 NA NA NA NA rs1556189 0.81 0.81 0.8 0.821486 0.7962 0.9514 0.8487 0.6399 0.9397 0.8 0.95 0.81 0.64 0.8287 0.95 0.3 T 0.0 B 0.0 B 0.364 N 1.000 P 0.205 N 1.25 T -1.066 T 0.000 T 0.018 0.04 4.221 -0.41 -0.177 -2.036 4.126 0.039828 NA 0.43 0.806512 0.675443 NA 0.826 NA 5.9019214 1070 14 65245956 65245956 C T exonic SPTB NA synonymous SNV SPTB:NM_000347:exon21:c.G4482A:p.V1494V,SPTB:NM_001024858:exon21:c.G4482A:p.V1494V exonic ENSG00000070182 NA synonymous SNV ENSG00000070182:ENST00000553938:exon3:c.G477A:p.V159V,ENSG00000070182:ENST00000389720:exon21:c.G4482A:p.V1494V,ENSG00000070182:ENST00000389721:exon21:c.G4482A:p.V1494V,ENSG00000070182:ENST00000389722:exon21:c.G4482A:p.V1494V,ENSG00000070182:ENST00000542895:exon22:c.G4482A:p.V1494V,ENSG00000070182:ENST00000556626:exon22:c.G4482A:p.V1494V Score=550;Name=lod=230 NA 14q23.3 NA NA NA NA rs1741488 0.35 0.35 0.364 0.411542 0.2445 0.3532 0.1657 0.7012 0.4264 0.24 0.34 0.19 0.67 0.2809 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 0.972581 NA NA 0.239419 0.606446 NA 0.348 NA 5.9018476 1070 3 69246152 69246152 A G exonic FRMD4B NA synonymous SNV FRMD4B:NM_015123:exon13:c.T991C:p.L331L exonic ENSG00000114541 NA synonymous SNV ENSG00000114541:ENST00000462512:exon3:c.T124C:p.L42L,ENSG00000114541:ENST00000398540:exon13:c.T991C:p.L331L,ENSG00000114541:ENST00000542259:exon14:c.T829C:p.L277L Score=552;Name=lod=234 NA 3p14.1 Score=894;Name=V$HFH3_01 NA Name=9 NA rs13059488 0.78 0.78 0.768 0.7498 0.9453 0.6647 0.9222 0.5431 0.7935 0.95 0.65 0.93 0.58 0.8717 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 1.17994 NA NA 0.947982 0.571353 NA 0.826 NA 5.9016846 1070 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 1070 11 1874404 1874404 C T exonic LSP1 NA synonymous SNV LSP1:NM_002339:exon1:c.C30T:p.A10A exonic ENSG00000130592 NA synonymous SNV ENSG00000130592:ENST00000311604:exon1:c.C30T:p.A10A NA NA 11p15.5 NA Name=YY1,Egr-1,TBP,EBF,Sin3Ak-20,Oct-2,YY1_(C-20),BCLAF1_(M33-P5B11),EBF1_(C-8),Pol2-4H8,TAF1,BCL3,NFKB,POU2F2,TCF12,CHD2_(N-1250),Pol2 NA NA rs2089910 0.32 0.32 0.308 0.291933 0.2654 0.4623 0.2795 0.2799 0.1687 0.26 0.47 0.27 0.27 0.2709 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.407224 NA NA 0.229453 0.262739 ID=COSM1561472;OCCURENCE=1(large_intestine) 0.275 NA 5.9009136 1070 5 6632875 6632875 G A intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA Name=CTCF,AP-2gamma,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 1070 21 43846802 43846802 G A intronic UBASH3A NA NA NA intronic ENSG00000160185 NA NA NA NA NA 21q22.3 NA Name=PU.1 Name=6 NA rs2212836 0.02 0.02 0.025 0.0223642 0.0437 NA 0.0274 0.028 0.0123 0.04 NA 0.03 0.02 0.0308 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 -1.127943 NA NA 0.024651 0.020881 NA NA NA 5.900849 1070 12 29736480 29736480 A G exonic TMTC1 NA synonymous SNV TMTC1:NM_001193451:exon8:c.T1278C:p.H426H,TMTC1:NM_175861:exon8:c.T954C:p.H318H exonic ENSG00000133687 NA synonymous SNV ENSG00000133687:ENST00000550354:exon2:c.T75C:p.H25H,ENSG00000133687:ENST00000256062:exon8:c.T954C:p.H318H,ENSG00000133687:ENST00000539277:exon8:c.T1278C:p.H426H,ENSG00000133687:ENST00000381224:exon10:c.T1140C:p.H380H,ENSG00000133687:ENST00000551659:exon10:c.T1464C:p.H488H,ENSG00000133687:ENST00000552618:exon10:c.T1464C:p.H488H Score=523;Name=lod=178 NA 12p11.22 NA NA NA NA rs2113879 0.37 0.37 0.351 0.370208 0.2376 0.4623 0.3112 0.5182 0.2536 0.23 0.49 0.29 0.49 0.2887 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.633667 NA NA 0.239535 0.455742 NA 0.304 NA 5.9008316 1070 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 1070 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 1070 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$NF1_Q6 NA NA NA rs3763823 0.69 0.69 0.676 0.701078 0.5905 0.6508 0.7089 0.8911 0.6043 0.58 0.67 0.7 0.89 0.6161 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.608765 1.608765 NA 0.559385 0.836665 ID=COSM1352045;OCCURENCE=1(large_intestine) 0.688 NA 5.9006816 1070 18 5410574 5410574 A G exonic EPB41L3 NA synonymous SNV EPB41L3:NM_012307:exon14:c.T2112C:p.T704T exonic ENSG00000082397 NA synonymous SNV ENSG00000082397:ENST00000400111:exon13:c.T1605C:p.T535T,ENSG00000082397:ENST00000540638:exon13:c.T1605C:p.T535T,ENSG00000082397:ENST00000544123:exon13:c.T1605C:p.T535T,ENSG00000082397:ENST00000341928:exon14:c.T2112C:p.T704T,ENSG00000082397:ENST00000342933:exon14:c.T2112C:p.T704T Score=477;Name=lod=116 NA 18p11.31 Score=690;Name=V$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 1070 1 16344402 16344402 G A exonic HSPB7 NA synonymous SNV HSPB7:NM_014424:exon1:c.C57T:p.S19S exonic ENSG00000173641 NA synonymous SNV ENSG00000173641:ENST00000311890:exon1:c.C57T:p.S19S,ENSG00000173641:ENST00000406363:exon1:c.C57T:p.S19S,ENSG00000173641:ENST00000411503:exon1:c.C57T:p.S19S,ENSG00000173641:ENST00000487046:exon1:c.C57T:p.S19S,ENSG00000173641:ENST00000545268:exon1:c.C57T:p.S19S Score=563;Name=lod=259 NA 1p36.13 NA NA Name=23 NA rs945416 0.64 0.64 0.63 0.648962 0.5934 0.7639 0.4553 0.7103 0.6421 0.58 0.75 0.48 0.71 0.5885 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 0.760968 NA NA 0.584767 0.681117 NA 0.667 NA 5.8999996 1070 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 1070 6 29555778 29555778 A G exonic OR2H2 NA synonymous SNV OR2H2:NM_007160:exon1:c.A57G:p.P19P exonic ENSG00000204657 NA synonymous SNV ENSG00000204657:ENST00000383640:exon1:c.A57G:p.P19P NA NA 6p22.1 Score=772;Name=V$STAT5A_02 NA NA NA rs2235698 0.27 0.27 0.239 0.26897 0.2555 0.3393 0.2997 0.1573 0.3395 0.27 0.35 0.33 0.15 0.2746 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.613681 NA NA 0.237357 0.205824 NA 0.181 NA 5.8992096 1070 X 99849017 99849017 G A exonic TNMD NA synonymous SNV TNMD:NM_022144:exon3:c.G306A:p.V102V exonic ENSG00000000005 NA synonymous SNV ENSG00000000005:ENST00000373031:exon3:c.G306A:p.V102V Score=585;Name=lod=318 NA Xq22.1 NA NA NA NA rs2073162 0.5 0.5 0.49603 NA NA NA NA NA NA 0.4 0.68 0.46 0.49 0.4031 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.902829 NA NA 0.364893 0.42764 NA 0.362 NA 5.8986736 1070 9 35660990 35660990 A G exonic CCDC107 NA nonsynonymous SNV CCDC107:NM_174923:exon5:c.A658G:p.I220V,CCDC107:NM_001195200:exon6:c.A577G:p.I193V exonic ENSG00000159884 NA nonsynonymous SNV ENSG00000159884:ENST00000426546:exon5:c.A658G:p.I220V,ENSG00000159884:ENST00000378409:exon6:c.A577G:p.I193V NA NA 9p13.3 NA Name=ZNF263 NA NA rs1339374 0.83 0.83 0.813 0.813299 0.8181 0.9782 0.8703 0.5968 0.8906 0.82 0.99 0.85 0.64 0.8184 0.99 1 T 0.0 B 0.0 B 0.488 N 1.000 P 0 N 1.95 T -0.957 T 0.000 T 0.034 -1.863 0.008 1.22 -0.128 -0.106 7.753 -1.86349 NA 0.35 0.798837 0.631866 NA 0.754 NA 5.8979964 1070 5 96498783 96498783 G A exonic RIOK2 NA synonymous SNV RIOK2:NM_018343:exon10:c.C1641T:p.A547A exonic ENSG00000058729 NA synonymous SNV ENSG00000058729:ENST00000283109:exon10:c.C1641T:p.A547A Score=615;Name=lod=421 NA 5q15 NA NA NA NA rs8654 0.55 0.55 0.507 0.554313 0.5845 0.5208 0.5692 0.5076 0.6104 0.59 0.5 0.56 0.54 0.5867 0.6 . . . . . . . . 0.000 P . . . . . . . . . 1.106 9.511 0.19 -0.539 0.119 9.491 1.10578 NA NA 0.597907 0.524069 NA 0.572 NA 5.8975596 1070 7 30496382 30496382 G C exonic NOD1 NA synonymous SNV NOD1:NM_006092:exon4:c.C156G:p.A52A exonic ENSG00000106100 NA synonymous SNV ENSG00000106100:ENST00000222823:exon4:c.C156G:p.A52A,ENSG00000106100:ENST00000423334:exon4:c.C156G:p.A52A,ENSG00000106100:ENST00000434755:exon4:c.C156G:p.A52A,ENSG00000106100:ENST00000411552:exon5:c.C156G:p.A52A,ENSG00000106100:ENST00000413433:exon5:c.C156G:p.A52A,ENSG00000106100:ENST00000419799:exon5:c.C156G:p.A52A NA NA 7p14.3 Score=805;Name=V$GFI1_01 NA NA NA rs2075818 0.32 0.32 0.327 0.369209 0.2326 0.3859 0.1902 0.5166 0.4202 0.22 0.37 0.23 0.49 0.2889 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.984519 NA NA 0.248488 0.475034 NA 0.268 NA 5.8966786 1070 14 107034981 107034981 G C intergenic LINC00221,NONE dist=83452;dist=NONE NA NA exonic ENSG00000211966 NA synonymous SNV ENSG00000211966:ENST00000390626:exon2:c.C99G:p.P33P Score=289;Name=lod=20 NA 14q32.33 NA Name=Pol2 NA NA rs2731202 0.24 0.24 0.215 0.262181 0.2087 0.0734 0.1484 0.5825 0.1595 0.2 0.07 0.2 0.52 0.207 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06465 NA NA 0.187938 0.440341 NA 0.232 NA 5.896362 1070 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 1070 21 37664501 37664501 G A exonic DOPEY2 NA synonymous SNV DOPEY2:NM_005128:exon36:c.G6615A:p.R2205R exonic ENSG00000142197 NA synonymous SNV ENSG00000142197:ENST00000399151:exon36:c.G6615A:p.R2205R Score=499;Name=lod=142 NA 21q22.12 NA NA NA NA rs9978057 0.19 0.19 0.197 0.194489 0.2465 0.0407 0.2464 0.2799 0.1472 0.24 0.05 0.23 0.26 0.2452 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.043688 NA NA 0.278953 0.258057 ID=COSM149223;OCCURENCE=1(stomach) 0.174 NA 5.8960136 1070 20 48129706 48129706 G T exonic PTGIS NA synonymous SNV PTGIS:NM_000961:exon8:c.C1117A:p.R373R exonic ENSG00000124212 NA synonymous SNV ENSG00000124212:ENST00000244043:exon8:c.C1117A:p.R373R Score=378;Name=lod=46 NA 20q13.13 NA NA NA NA rs5629 0.22 0.22 0.23 0.220248 0.2604 0.2321 0.2723 0.1248 0.2587 0.24 0.22 0.28 0.14 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 1.227805 NA NA 0.261279 0.132093 NA 0.152 NA 5.8958876 1070 5 53815240 53815240 G C exonic SNX18 NA synonymous SNV SNX18:NM_001102575:exon1:c.G1458C:p.S486S,SNX18:NM_001145427:exon1:c.G1458C:p.S486S,SNX18:NM_052870:exon1:c.G1458C:p.S486S exonic ENSG00000178996 NA synonymous SNV ENSG00000178996:ENST00000326277:exon1:c.G1458C:p.S486S,ENSG00000178996:ENST00000343017:exon1:c.G1458C:p.S486S,ENSG00000178996:ENST00000381410:exon1:c.G1458C:p.S486S NA NA 5q11.2 Score=752;Name=V$NRSF_01 NA NA NA rs61739378 0.3 0.3 0.281 0.323083 0.2286 0.4831 0.3545 0.2398 0.3456 0.22 0.46 0.3 0.25 0.2929 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117261 NA NA 0.249302 0.233318 ID=COSM149834;OCCURENCE=1(stomach) 0.355 NA 5.8958646 1070 5 149792113 149792113 G A intronic CD74 NA NA NA intronic ENSG00000019582 NA NA NA NA NA 5q32 NA Name=USF2,Pol2,POU2F2,Pol2-4H8,RFX5_(N-494),TAF1,BCLAF1_(M33-P5B11),SP1,Nrf1,Oct-2,JunD Name=97 NA rs11739355 0.13 0.13 0.14 0.121006 0.1044 0.2272 0.0591 0.1082 0.09 0.1 0.23 0.05 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 0.714556 NA NA NA NA NA 0.08 NA 5.8956 1070 4 54179796 54179796 G A intronic SCFD2 NA NA NA intronic ENSG00000184178 NA NA NA NA NA 4q12 NA Name=Rad21,SMC3_(ab9263),CTCF,CTCF_(SC-5916) Name=71 NA rs80219351 0.02 0.02 0.01 0.0109824 0.0348 0.001 0.0115 0.0008 0.0102 0.04 NA 0.02 NA 0.0295 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 -0.001833 NA NA 0.040116 0.008398 NA 0.014 NA 5.895584 1070 11 6629665 6629665 C T exonic ILK NA synonymous SNV ILK:NM_001014795:exon3:c.C297T:p.H99H,ILK:NM_001014794:exon4:c.C297T:p.H99H,ILK:NM_004517:exon4:c.C297T:p.H99H exonic ENSG00000166333 NA synonymous SNV ENSG00000166333:ENST00000396751:exon3:c.C297T:p.H99H,ENSG00000166333:ENST00000299421:exon4:c.C297T:p.H99H,ENSG00000166333:ENST00000420936:exon4:c.C297T:p.H99H,ENSG00000166333:ENST00000527327:exon4:c.C297T:p.H99H,ENSG00000166333:ENST00000527394:exon4:c.C297T:p.H99H,ENSG00000166333:ENST00000528995:exon4:c.C297T:p.H99H Score=626;Name=lod=465 NA 11p15.4 NA NA NA NA rs1043388 0.31 0.31 0.323 0.314696 0.2535 0.3512 0.2608 0.4153 0.2423 0.25 0.35 0.27 0.41 0.2677 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.775126 1.775126 NA 0.25 0.382781 NA 0.341 NA 5.8954666 1070 2 162904013 162904013 T C splicing DPP4 NM_001935:exon4:c.95-2A>G NA NA splicing ENSG00000197635 ENST00000360534:exon4:c.95-2A>G,ENST00000413651:exon4:c.95-2A>G NA NA NA NA 2q24.2 NA NA NA NA rs116302758 0.02 0.02 0.018 0.0115815 0.0398 0.001 0.0159 0.0023 0.0031 0.05 NA 0.01 0.002 0.0279 0.05 . . . . . . . . 1.000 N . . . . . . . . . 1.351 10.44 0.285 0.167 -0.219 3.407 1.350784 1.350784 NA 0.03686 0.006131 NA NA NA 5.89544 1070 3 9970158 9970158 C T exonic IL17RC NA synonymous SNV IL17RC:NM_001203265:exon10:c.C1002T:p.N334N,IL17RC:NM_032732:exon10:c.C1002T:p.N334N,IL17RC:NM_001203263:exon11:c.C1047T:p.N349N,IL17RC:NM_001203264:exon11:c.C1047T:p.N349N,IL17RC:NM_153460:exon11:c.C1047T:p.N349N,IL17RC:NM_153461:exon11:c.C1260T:p.N420N exonic ENSG00000163702 NA synonymous SNV ENSG00000163702:ENST00000416074:exon9:c.C615T:p.N205N,ENSG00000163702:ENST00000438091:exon9:c.C927T:p.N309N,ENSG00000163702:ENST00000383812:exon10:c.C1002T:p.N334N,ENSG00000163702:ENST00000436503:exon10:c.C972T:p.N324N,ENSG00000163702:ENST00000455057:exon10:c.C1002T:p.N334N,ENSG00000163702:ENST00000295981:exon11:c.C1260T:p.N420N,ENSG00000163702:ENST00000403601:exon11:c.C1047T:p.N349N,ENSG00000163702:ENST00000413608:exon11:c.C1047T:p.N349N Score=336;Name=lod=31 NA 3p25.3 NA NA NA NA rs279548 0.17 0.17 0.162 0.154153 0.2952 0.0179 0.1916 0.1369 0.1462 0.29 0.02 0.21 0.14 0.2175 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.997247 NA NA 0.258953 0.159101 NA 0.094 NA 5.8950136 1071 5 149792135 149792135 G A intronic CD74 NA NA NA intronic ENSG00000019582 NA NA NA NA NA 5q32 NA Name=Nrf1,SP1,Oct-2,ZBTB33,RXRA,JunD,Pol2,USF2,POU2F2,Pol2-4H8,IRF4_(M-17),RFX5_(N-494),TAF1,BCLAF1_(M33-P5B11),ELF1_(SC-631) Name=97 NA rs11739357 0.13 0.13 0.134 0.121605 0.1054 0.2272 0.0591 0.1097 0.09 0.1 0.23 0.05 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 0.302692 NA NA NA NA NA 0.087 NA 5.8946 1071 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 1071 15 33066478 33066478 C T UTR3 FMN1 NM_001103184:c.*33G>A,NM_001277313:c.*33G>A NA NA UTR3 ENSG00000248905 ENST00000334528:c.*33G>A,ENST00000561249:c.*33G>A NA NA NA NA 15q13.3 NA Name=p300_(N-15),JunD,GR Name=94 NA rs16958712 0.14 0.14 0.138 0.138778 0.1521 0.131 0.1268 0.1445 0.1339 0.14 0.13 0.14 0.15 0.158 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.242339 NA NA 0.129105 0.128537 NA 0.058 NA 5.8941284 1071 14 104194196 104194196 C G exonic ZFYVE21 NA synonymous SNV ZFYVE21:NM_001198953:exon3:c.C303G:p.L101L,ZFYVE21:NM_024071:exon3:c.C303G:p.L101L exonic ENSG00000100711 NA synonymous SNV ENSG00000100711:ENST00000216602:exon3:c.C303G:p.L101L,ENSG00000100711:ENST00000311141:exon3:c.C303G:p.L101L Score=378;Name=lod=46 NA 14q32.33 NA Name=CTCF Name=9 NA rs1535100 0.9 0.9 0.916 0.889976 0.9294 0.9633 0.7997 0.8457 0.8978 0.93 0.96 0.8 0.84 0.908 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 -0.568418 NA NA 0.936744 0.863141 NA 0.92 NA 5.8925226 1071 14 21871653 21871653 C T exonic CHD8 NA synonymous SNV CHD8:NM_001170629:exon16:c.G3477A:p.V1159V,CHD8:NM_020920:exon17:c.G2640A:p.V880V exonic ENSG00000100888 NA synonymous SNV ENSG00000100888:ENST00000399982:exon16:c.G3477A:p.V1159V,ENSG00000100888:ENST00000430710:exon17:c.G2640A:p.V880V,ENSG00000100888:ENST00000557364:exon17:c.G3477A:p.V1159V Score=694;Name=lod=881 NA 14q11.2 Score=890;Name=V$TAL1ALPHAE47_01 NA NA NA rs8022395 0.91 0.91 0.928 0.907348 0.9274 0.8869 0.8098 0.9478 0.9223 0.92 0.9 0.85 0.94 0.9093 0.95 . . . . . . . . 0.000 P . . . . -1.040 T 0.000 T . 0.566 7.06 1.57 0.160 0.438 1.963 0.566171 NA NA 0.938108 0.946892 NA 0.884 NA 5.8918586 1071 11 56143966 56143966 C T exonic OR8U1 NA synonymous SNV OR8U1:NM_001005204:exon1:c.C867T:p.I289I exonic ENSG00000172199 NA synonymous SNV ENSG00000172199:ENST00000302270:exon1:c.C867T:p.I289I Score=371;Name=lod=43 NA 11q12.1 NA NA NA NA rs12291978 0.26 0.26 0.224 0.200879 0.2654 0.1369 0.1571 0.2481 0.1677 0.3 0.25 0.21 0.24 0.2346 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.343694 NA NA 0.274892 0.24679 NA 0.123 NA 5.8917746 1071 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 1071 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 1071 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 1071 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 1071 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 1071 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 1071 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 1071 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 1071 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 1071 11 1281544 1281544 G A intronic MUC5B NA NA NA intronic ENSG00000117983 NA NA NA NA NA 11p15.5 NA Name=ZBTB7A_(SC-34508),IRF1 Name=50 NA rs55902629 0.04 0.04 0.034 0.0473243 0.0388 0.002 0.0403 0.0711 0.0757 0.04 0.0017 0.05 0.08 0.0381 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 -0.351304 NA NA 0.033366 0.078151 NA 0.036 NA 5.889734 1071 19 8197865 8197865 C T intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA Score=479;Name=lod=118 NA 19p13.2 NA Name=c-Myc,Max Name=3 NA rs11666450 0.2 0.2 0.211 0.18111 0.3628 0.0486 0.2205 0.1059 0.2045 0.35 0.05 0.24 0.11 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 -0.64916 NA NA 0.385961 0.143052 NA 0.196 NA 5.889039 1071 10 70856852 70856852 G A exonic SRGN NA nonsynonymous SNV SRGN:NM_002727:exon2:c.G92A:p.R31Q exonic ENSG00000122862 NA nonsynonymous SNV ENSG00000122862:ENST00000242465:exon2:c.G92A:p.R31Q NA NA 10q22.1 NA NA Name=3 NA rs2229498 0.61 0.61 0.593 0.589657 0.8499 0.503 0.6066 0.348 0.726 0.85 0.52 0.65 0.31 0.751 0.85 0.94 T 0.12 B 0.035 B 0.873 N 1.000 P -0.345 N 0.79 T -0.976 T 0.000 T 0.074 -0.099 3.514 -0.986 -0.372 -0.356 10.334 -0.099143 NA 1 0.843605 0.421017 NA 0.681 NA 5.8888284 1071 3 195517258 195517258 G A exonic MUC4 NA nonsynonymous SNV MUC4:NM_018406:exon2:c.C1193T:p.T398I exonic ENSG00000145113 NA nonsynonymous SNV ENSG00000145113:ENST00000462323:exon2:c.C1193T:p.T398I,ENSG00000145113:ENST00000463781:exon2:c.C1193T:p.T398I,ENSG00000145113:ENST00000466475:exon2:c.C1193T:p.T398I,ENSG00000145113:ENST00000470451:exon2:c.C1193T:p.T398I,ENSG00000145113:ENST00000475231:exon2:c.C1193T:p.T398I,ENSG00000145113:ENST00000477086:exon2:c.C1193T:p.T398I,ENSG00000145113:ENST00000477756:exon2:c.C1193T:p.T398I,ENSG00000145113:ENST00000478156:exon2:c.C1193T:p.T398I,ENSG00000145113:ENST00000479406:exon2:c.C1193T:p.T398I,ENSG00000145113:ENST00000480843:exon2:c.C1193T:p.T398I NA NA 3q29 NA NA NA NA rs1106502 0.79 0.79 0.817 0.772364 0.84 0.8165 0.6787 0.8056 0.6789 0.84 0.79 0.68 0.82 0.7807 0.84 0.41 T 0.068 B 0.031 B 0.213 U 1.000 P . . 1.85 T -0.999 T 0.000 T 0.125 -0.128 3.375 0.754 0.190 -1.550 3.567 -0.127563 NA 0.44 0.823828 0.826357 ID=COSM149620,COSM149619;OCCURENCE=1(stomach) 0.833 NA 5.8888054 1071 1 171509327 171509327 G A exonic PRRC2C NA nonsynonymous SNV PRRC2C:NM_015172:exon16:c.G2716A:p.A906T exonic ENSG00000117523 NA nonsynonymous SNV ENSG00000117523:ENST00000338920:exon16:c.G2716A:p.A906T,ENSG00000117523:ENST00000367742:exon16:c.G2722A:p.A908T,ENSG00000117523:ENST00000392078:exon16:c.G2722A:p.A908T,ENSG00000117523:ENST00000426496:exon16:c.G2716A:p.A906T NA NA 1q24.3 NA NA NA NA rs760644 0.81 0.81 0.837 0.800919 0.8151 0.8958 0.7248 0.7179 0.8548 0.83 0.9 0.75 0.7 0.8174 0.9 0.86 T 0.001 B 0.002 B 0.405 N 1.000 P -0.695 N 3.12 T -0.930 T 0.003 T 0.003 0.242 5.309 -4.06 -0.717 0.112 14.179 0.242422 NA 0 0.812326 0.760554 ID=COSM1158681,COSM1158680;OCCURENCE=1(pancreas) 0.812 NA 5.8885074 1071 15 40913840 40913840 G T exonic CASC5 NA nonsynonymous SNV CASC5:NM_144508:exon10:c.G1378T:p.A460S,CASC5:NM_170589:exon11:c.G1456T:p.A486S exonic ENSG00000137812 NA nonsynonymous SNV ENSG00000137812:ENST00000399668:exon10:c.G1378T:p.A460S,ENSG00000137812:ENST00000346991:exon11:c.G1456T:p.A486S NA NA 15q15.1 NA NA NA NA rs2412541 0.66 0.66 0.673 0.653954 0.8559 0.3532 0.6124 0.7322 0.68 0.86 0.32 0.66 0.74 0.7455 0.86 1 T 0.0 B 0.0 B 0.019 N 1.000 P -2.005 N 3.69 T -1.032 T 0.000 T 0.02 -1.417 0.022 1.67 0.373 -0.054 2.379 -1.417364 NA 1 0.843673 0.772802 NA 0.645 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116560.1;CLNDSDB=.;CLNDSDBID=. 5.8882604 1071 1 204403659 204403659 A G exonic PIK3C2B NA synonymous SNV PIK3C2B:NM_002646:exon25:c.T3594C:p.N1198N exonic ENSG00000133056 NA synonymous SNV ENSG00000133056:ENST00000367187:exon25:c.T3594C:p.N1198N,ENSG00000133056:ENST00000424712:exon26:c.T3510C:p.N1170N NA NA 1q32.1 Score=937;Name=V$TCF11_01 NA NA NA rs3747636 0.38 0.38 0.364 0.404952 0.2594 0.5089 0.2666 0.525 0.3834 0.27 0.52 0.27 0.48 0.3009 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.167603 NA NA 0.21814 0.477531 NA 0.341 NA 5.8882266 1071 2 99149946 99149946 G A exonic INPP4A NA synonymous SNV INPP4A:NM_001134224:exon5:c.G258A:p.T86T,INPP4A:NM_001134225:exon5:c.G258A:p.T86T,INPP4A:NM_001566:exon5:c.G258A:p.T86T,INPP4A:NM_004027:exon5:c.G258A:p.T86T exonic ENSG00000040933 NA synonymous SNV ENSG00000040933:ENST00000523221:exon3:c.G258A:p.T86T,ENSG00000040933:ENST00000074304:exon5:c.G258A:p.T86T,ENSG00000040933:ENST00000409016:exon5:c.G258A:p.T86T,ENSG00000040933:ENST00000409540:exon5:c.G258A:p.T86T,ENSG00000040933:ENST00000409851:exon5:c.G258A:p.T86T,ENSG00000040933:ENST00000545415:exon5:c.G258A:p.T86T Score=463;Name=lod=102 NA 2q11.2 NA NA NA NA rs2278211 0.23 0.23 0.193 0.230431 0.2674 0.2956 0.304 0.0749 0.2832 0.25 0.27 0.31 0.07 0.2492 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.048225 NA NA 0.262 0.11432 NA 0.217 NA 5.8880666 1071 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 1071 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 1071 7 21640405 21640405 A G exonic DNAH11 NA nonsynonymous SNV DNAH11:NM_001277115:exon16:c.A3112G:p.T1038A exonic ENSG00000105877 NA nonsynonymous SNV ENSG00000105877:ENST00000328843:exon16:c.A3112G:p.T1038A,ENSG00000105877:ENST00000409508:exon16:c.A3112G:p.T1038A NA NA 7p15.3 NA NA NA NA rs10224537 0.78 0.78 0.765 0.767772 0.8191 0.8056 0.7046 0.7648 0.7249 0.83 0.78 0.74 0.75 0.7887 0.84 0.61 T 0.0 B 0.0 B 0.098 N 1.000 P . . 2.01 T -1.040 T 0.000 T 0.104 -0.113 3.447 3.64 0.721 0.941 9.421 -0.112863 NA 0.32 0.83777 0.768028 NA 0.848 NA 5.8877634 1071 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 1071 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 1071 1 24201357 24201357 A G exonic CNR2 NA synonymous SNV CNR2:NM_001841:exon2:c.T751C:p.L251L exonic ENSG00000188822 NA synonymous SNV ENSG00000188822:ENST00000374472:exon2:c.T751C:p.L251L,ENSG00000188822:ENST00000536471:exon3:c.T751C:p.L251L Score=558;Name=lod=248 NA 1p36.11 Score=770;Name=V$PPARA_01 NA NA NA rs4649124 0.64 0.64 0.674 0.653355 0.5875 0.502 0.6383 0.7943 0.6973 0.59 0.55 0.64 0.81 0.6184 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 0.526006 NA NA 0.573837 0.751248 NA 0.754 NA 5.8869296 1071 14 23240328 23240328 T A exonic OXA1L NA synonymous SNV OXA1L:NM_005015:exon8:c.T1221A:p.R407R exonic ENSG00000155463 NA synonymous SNV ENSG00000155463:ENST00000285848:exon8:c.T1221A:p.R407R,ENSG00000155463:ENST00000358043:exon8:c.T993A:p.R331R,ENSG00000155463:ENST00000412791:exon8:c.T1041A:p.R347R,ENSG00000155463:ENST00000604262:exon8:c.T1041A:p.R347R Score=389;Name=lod=51 NA 14q11.2 NA NA NA NA rs8786 0.18 0.18 0.172 0.203275 0.2594 0.1538 0.2075 0.0703 0.3732 0.27 0.13 0.21 0.1 0.2449 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.204435 NA NA 0.275465 0.104403 NA 0.159 NA 5.8869016 1071 5 53751901 53751901 G A exonic HSPB3 NA synonymous SNV HSPB3:NM_006308:exon1:c.G282A:p.L94L exonic ENSG00000169271 NA synonymous SNV ENSG00000169271:ENST00000302005:exon1:c.G282A:p.L94L Score=543;Name=lod=215 NA 5q11.2 NA NA Name=12 NA rs7699 0.5 0.5 0.512 0.482628 0.6223 0.369 0.4597 0.4297 0.544 0.63 0.38 0.5 0.44 0.5543 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.534791 NA NA 0.603372 0.459828 NA 0.406 NA 5.8866946 1071 15 31369123 31369123 A G exonic TRPM1 NA nonsynonymous SNV TRPM1:NM_001252020:exon2:c.T119C:p.M40T,TRPM1:NM_001252030:exon2:c.T2C:p.M1T,TRPM1:NM_002420:exon2:c.T2C:p.M1T,TRPM1:NM_001252024:exon3:c.T68C:p.M23T exonic ENSG00000134160 NA nonsynonymous SNV ENSG00000134160:ENST00000397795:exon2:c.T2C:p.M1T,ENSG00000134160:ENST00000542188:exon2:c.T119C:p.M40T,ENSG00000134160:ENST00000558445:exon2:c.T2C:p.M1T,ENSG00000134160:ENST00000559177:exon2:c.T2C:p.M1T,ENSG00000134160:ENST00000559179:exon2:c.T2C:p.M1T,ENSG00000134160:ENST00000560658:exon2:c.T2C:p.M1T,ENSG00000134160:ENST00000256552:exon3:c.T68C:p.M23T NA NA 15q13.3 NA NA NA NA rs4779816 0.88 0.88 0.87 0.894369 0.8012 0.9772 0.8905 0.9115 0.8845 0.79 0.97 0.86 0.9 0.8446 0.97 1 T 0.0 B 0.0 B 0.038 N 0.000 P . . 0.82 T -0.935 T 0.000 T 0.031 -0.052 3.749 2.41 0.801 0.045 1.530 -0.052077 NA 0 0.801193 0.892146 NA 0.804 NA 5.8863404 1071 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 1071 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 1071 1 24201643 24201643 G A exonic CNR2 NA synonymous SNV CNR2:NM_001841:exon2:c.C465T:p.G155G exonic ENSG00000188822 NA synonymous SNV ENSG00000188822:ENST00000374472:exon2:c.C465T:p.G155G,ENSG00000188822:ENST00000536471:exon3:c.C465T:p.G155G Score=419;Name=lod=67 NA 1p36.11 Score=772;Name=V$HEN1_01 NA NA NA rs2501431 0.64 0.64 0.671 0.653355 0.5875 0.502 0.6383 0.7943 0.6973 0.59 0.55 0.64 0.81 0.6198 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.357334 NA NA 0.573837 0.751248 NA 0.754 NA 5.8855296 1071 8 95143186 95143186 C G exonic CDH17 NA nonsynonymous SNV CDH17:NM_001144663:exon16:c.G2202C:p.E734D,CDH17:NM_004063:exon16:c.G2202C:p.E734D exonic ENSG00000079112 NA nonsynonymous SNV ENSG00000079112:ENST00000441892:exon12:c.G1560C:p.E520D,ENSG00000079112:ENST00000027335:exon16:c.G2202C:p.E734D,ENSG00000079112:ENST00000450165:exon16:c.G2202C:p.E734D NA NA 8q22.1 NA NA NA NA rs1051623 0.79 0.79 0.798 0.783946 0.8171 0.6925 0.781 0.8464 0.7618 0.82 0.69 0.82 0.85 0.804 0.85 0.9 T 0.0 B 0.001 B 0.634 N 1.000 P -1.1 N 0.47 T -0.982 T 0.000 T 0.029 -1.589 0.014 2.43 0.340 0.910 5.829 -1.589036 NA 0.87 0.827093 0.846346 NA 0.696 NA 5.8851404 1071 2 237489904 237489904 C T exonic CXCR7 NA synonymous SNV CXCR7:NM_020311:exon2:c.C796T:p.L266L exonic ENSG00000144476 NA synonymous SNV ENSG00000144476:ENST00000272928:exon2:c.C796T:p.L266L Score=491;Name=lod=132 NA 2q37.3 NA NA NA NA rs1045879 0.29 0.29 0.332 0.347244 0.2485 0.0486 0.2176 0.7398 0.318 0.27 0.02 0.22 0.71 0.267 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.262134 NA NA 0.266163 0.661598 NA 0.254 NA 5.8850036 1072 19 7166376 7166376 C T exonic INSR NA synonymous SNV INSR:NM_000208:exon8:c.G1650A:p.A550A,INSR:NM_001079817:exon8:c.G1650A:p.A550A exonic ENSG00000171105 NA synonymous SNV ENSG00000171105:ENST00000600492:exon2:c.G51A:p.A17A,ENSG00000171105:ENST00000302850:exon8:c.G1650A:p.A550A,ENSG00000171105:ENST00000341500:exon8:c.G1650A:p.A550A NA NA 19p13.2 Score=812;Name=V$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 1072 14 96129955 96129955 A C ncRNA_intronic TCL6 NA NA NA ncRNA_exonic ENSG00000187621,ENSG00000259084 NA NA NA NA NA 14q32.13 NA Name=ZEB1_(SC-25388),NFKB,Pol2,TCF12 Name=7 NA rs8015466 0.27 0.27 0.255 0.279952 0.2406 0.2649 0.4654 0.1619 0.364 0.25 0.28 0.43 0.17 0.2851 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.821445 NA NA 0.256163 0.170676 NA 0.377 NA 5.8848036 1072 16 58579274 58579274 C T exonic CNOT1 NA synonymous SNV CNOT1:NM_001265612:exon30:c.G4113A:p.L1371L,CNOT1:NM_016284:exon30:c.G4128A:p.L1376L,CNOT1:NM_206999:exon30:c.G4128A:p.L1376L exonic ENSG00000125107 NA synonymous SNV ENSG00000125107:ENST00000245138:exon7:c.G681A:p.L227L,ENSG00000125107:ENST00000317147:exon30:c.G4128A:p.L1376L,ENSG00000125107:ENST00000441024:exon30:c.G4128A:p.L1376L,ENSG00000125107:ENST00000567188:exon30:c.G4113A:p.L1371L,ENSG00000125107:ENST00000569240:exon30:c.G4113A:p.L1371L Score=543;Name=lod=215 NA 16q21 NA NA NA NA rs246258 0.28 0.28 0.269 0.284345 0.2416 0.3839 0.4135 0.1339 0.3374 0.27 0.37 0.4 0.12 0.2832 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.053578 NA NA 0.257442 0.151956 NA 0.341 NA 5.8844246 1072 6 52878637 52878637 T C exonic ICK NA synonymous SNV ICK:NM_014920:exon9:c.A975G:p.P325P,ICK:NM_016513:exon10:c.A975G:p.P325P exonic ENSG00000112144 NA synonymous SNV ENSG00000112144:ENST00000350082:exon9:c.A975G:p.P325P,ENSG00000112144:ENST00000356971:exon10:c.A975G:p.P325P Score=458;Name=lod=97 NA 6p12.2 NA NA NA NA rs2297211 0.25 0.25 0.242 0.248203 0.2744 0.1121 0.1686 0.4599 0.1319 0.27 0.12 0.21 0.41 0.2471 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.267254 NA NA 0.26093 0.420336 ID=COSM150107;OCCURENCE=1(stomach) 0.254 NA 5.8842366 1072 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=PU.1,SMC3_(ab9263),Rad21,CTCF 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 1072 3 194061906 194061906 T C exonic CPN2 NA nonsynonymous SNV CPN2:NM_001080513:exon2:c.A1526G:p.Q509R exonic ENSG00000178772 NA nonsynonymous SNV ENSG00000178772:ENST00000323830:exon2:c.A1526G:p.Q509R,ENSG00000178772:ENST00000429275:exon2:c.A1526G:p.Q509R NA NA 3q29 NA NA NA NA rs4974538 0.8 0.8 0.842 0.810503 0.8171 0.8145 0.8357 0.8661 0.7065 0.79 0.77 0.82 0.82 0.8171 0.85 1 T 0.0 B 0.0 B . . 1.000 P -0.895 N 0.84 T -0.959 T 0.000 T 0.091 -2.57 0.003 2.61 0.076 0.671 2.146 -2.569536 NA 1 0.816279 0.854063 NA 0.384 NA 5.8828544 1072 20 61982085 61982085 A G exonic CHRNA4 NA synonymous SNV CHRNA4:NM_000744:exon5:c.T678C:p.C226C,CHRNA4:NM_001256573:exon5:c.T150C:p.C50C exonic ENSG00000101204 NA synonymous SNV ENSG00000101204:ENST00000370263:exon5:c.T678C:p.C226C Score=601;Name=lod=369 NA 20q13.33 Score=808;Name=V$GFI1_01 NA NA NA rs1044394 0.87 0.87 0.839 0.863618 0.9304 1 0.928 0.6006 0.9642 0.93 1 0.92 0.59 0.9196 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.742994 NA NA 0.934186 0.66591 NA 0.848 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116723.2;CLNDSDB=.;CLNDSDBID=. 5.8824806 1072 21 43786606 43786606 G A UTR5 TFF1 NM_003225:c.-2C>T NA NA UTR5 ENSG00000160182 ENST00000291527:c.-2C>T NA NA NA NA 21q22.3 NA Name=ERalpha_a,c-Myc,Pol2 Name=4 NA rs2156310 0.21 0.21 0.171 0.195088 0.1481 0.4534 0.1455 0.0598 0.1953 0.15 0.45 0.14 0.08 0.1706 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.412003 NA NA 0.132209 0.075579 NA 0.203 NA 5.8824244 1072 4 110681505 110681505 C T exonic CFI NA synonymous SNV CFI:NM_000204:exon6:c.G804A:p.S268S exonic ENSG00000205403 NA synonymous SNV ENSG00000205403:ENST00000394634:exon6:c.G804A:p.S268S,ENSG00000205403:ENST00000394635:exon6:c.G804A:p.S268S,ENSG00000205403:ENST00000512148:exon6:c.G804A:p.S268S Score=403;Name=lod=58 NA 4q25 NA NA NA NA rs2298749 0.32 0.32 0.285 0.312101 0.2455 0.3095 0.4395 0.357 0.2321 0.26 0.31 0.42 0.36 0.2837 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.50183 NA NA 0.255233 0.370177 NA 0.312 NA 5.8822336 1072 8 103851052 103851052 T C exonic AZIN1 NA synonymous SNV AZIN1:NM_148174:exon5:c.A369G:p.A123A,AZIN1:NM_015878:exon6:c.A369G:p.A123A exonic ENSG00000155096 NA synonymous SNV ENSG00000155096:ENST00000521536:exon3:c.A195G:p.A65A,ENSG00000155096:ENST00000337198:exon5:c.A369G:p.A123A,ENSG00000155096:ENST00000347770:exon6:c.A369G:p.A123A Score=575;Name=lod=289 NA 8q22.3 NA NA NA NA rs1062048 0.18 0.18 0.172 0.19988 0.2634 0.1488 0.1599 0.0628 0.4008 0.26 0.15 0.18 0.08 0.2599 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.584352 1.584352 NA 0.261628 0.092147 NA 0.304 NA 5.8817386 1072 17 78084769 78084769 G A exonic GAA NA synonymous SNV GAA:NM_000152:exon11:c.G1581A:p.R527R,GAA:NM_001079804:exon11:c.G1581A:p.R527R,GAA:NM_001079803:exon12:c.G1581A:p.R527R exonic ENSG00000171298 NA synonymous SNV ENSG00000171298:ENST00000302262:exon11:c.G1581A:p.R527R,ENSG00000171298:ENST00000390015:exon12:c.G1581A:p.R527R NA NA 17q25.3 NA NA NA NA rs1042396 0.17 0.17 0.141 0.159545 0.2724 0.1091 0.2579 0.034 0.1953 0.27 0.09 0.27 0.04 0.2309 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021169 NA NA 0.281628 0.068316 ID=COSM148357;OCCURENCE=1(stomach) 0.225 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078160.2;CLNDSDB=.;CLNDSDBID=. 5.8817386 1072 11 6630833 6630833 G A exonic ILK NA synonymous SNV ILK:NM_001014795:exon8:c.G819A:p.P273P,ILK:NM_001014794:exon9:c.G819A:p.P273P,ILK:NM_004517:exon9:c.G819A:p.P273P exonic ENSG00000166333 NA synonymous SNV ENSG00000166333:ENST00000528995:exon7:c.G636A:p.P212P,ENSG00000166333:ENST00000396751:exon8:c.G819A:p.P273P,ENSG00000166333:ENST00000537806:exon8:c.G417A:p.P139P,ENSG00000166333:ENST00000299421:exon9:c.G819A:p.P273P,ENSG00000166333:ENST00000420936:exon9:c.G819A:p.P273P Score=617;Name=lod=428 NA 11p15.4 NA NA NA NA rs1043390 0.35 0.35 0.358 0.347444 0.2555 0.3492 0.2651 0.5303 0.2515 0.25 0.35 0.28 0.55 0.2782 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.700838 1.700838 NA 0.251397 0.47433 NA 0.42 NA 5.8815696 1072 16 81134860 81134860 C G exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN Score=417;Name=lod=66 NA 16q23.2 NA NA NA NA rs117677929 0.03 0.03 0.017 0.0151757 0.0487 NA 0.0245 0.0008 0.0092 0.06 NA 0.03 0.002 0.031 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 0.726927 NA 0.03 0.038911 0.008391 NA NA NA 5.881389 1072 X 138880835 138880835 C T intronic ATP11C NA NA NA intronic ENSG00000101974 NA NA NA Score=616;Name=lod=427 NA Xq27.1 Score=834;Name=V$FOXO4_02 NA NA NA rs45465799 0.04 0.04 0.01908 NA NA NA NA NA NA 0.06 NA 0.08 0.01 0.0583 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 1.654304 1.654304 NA 0.061097 0.007562 NA NA NA 5.880603 1072 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 1072 20 61288355 61288355 G T exonic SLCO4A1 NA synonymous SNV SLCO4A1:NM_016354:exon2:c.G549T:p.G183G exonic ENSG00000101187 NA synonymous SNV ENSG00000101187:ENST00000370507:exon1:c.G549T:p.G183G,ENSG00000101187:ENST00000217159:exon2:c.G549T:p.G183G,ENSG00000101187:ENST00000497209:exon2:c.G549T:p.G183G Score=419;Name=lod=67 NA 20q13.33 NA NA NA NA rs3195701 0.18 0.18 0.17 0.153954 0.2913 0.1706 0.1599 0.0159 0.1779 0.28 0.19 0.2 0.02 0.2267 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.738859 NA NA 0.268846 0.057675 ID=COSM1412975;OCCURENCE=1(large_intestine) 0.13 NA 5.8798206 1072 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$LMO2COM_02 Name=Pol2,Pol2-4H8 Name=77 NA rs1804527 0.95 0.95 0.942 0.958866 0.9245 0.9931 0.9798 0.9198 0.9969 0.91 1 0.98 0.93 0.9365 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.71766 NA NA 0.926047 0.916704 NA 0.913 NA 5.8796196 1072 12 96077312 96077312 C T exonic NTN4 NA synonymous SNV NTN4:NM_021229:exon6:c.G1356A:p.A452A exonic ENSG00000074527 NA synonymous SNV ENSG00000074527:ENST00000343702:exon6:c.G1356A:p.A452A,ENSG00000074527:ENST00000538383:exon6:c.G1245A:p.A415A,ENSG00000074527:ENST00000553059:exon6:c.G1356A:p.A452A,ENSG00000074527:ENST00000344911:exon7:c.G1245A:p.A415A NA NA 12q22 Score=849;Name=V$ER_Q6 NA NA NA rs17851048 0.15 0.15 0.123 0.116813 0.2952 NA 0.2104 0.0197 0.1186 0.3 NA 0.23 0.02 0.2196 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.200245 NA NA 0.272674 0.055379 NA 0.094 NA 5.8791926 1072 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 1072 9 5335470 5335470 C T exonic RLN1 NA synonymous SNV RLN1:NM_006911:exon2:c.G339A:p.Q113Q exonic ENSG00000107018 NA synonymous SNV ENSG00000107018:ENST00000223862:exon2:c.G339A:p.Q113Q NA NA 9p24.1 Score=829;Name=V$RFX1_02 NA NA NA rs2273782 0.33 0.33 0.34 0.348842 0.2555 0.4236 0.33 0.3011 0.4458 0.24 0.41 0.37 0.36 0.2899 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.767507 NA NA 0.242791 0.297095 NA 0.355 NA 5.8784756 1072 3 18427924 18427924 G T exonic SATB1 NA synonymous SNV SATB1:NM_001131010:exon8:c.C1386A:p.P462P,SATB1:NM_001195470:exon8:c.C1386A:p.P462P,SATB1:NM_002971:exon8:c.C1386A:p.P462P exonic ENSG00000182568 NA synonymous SNV ENSG00000182568:ENST00000338745:exon8:c.C1386A:p.P462P,ENSG00000182568:ENST00000417717:exon8:c.C1386A:p.P462P,ENSG00000182568:ENST00000454909:exon8:c.C1386A:p.P462P Score=472;Name=lod=110 NA 3p24.3 Score=708;Name=V$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 1072 11 125851181 125851181 G A exonic CDON NA synonymous SNV CDON:NM_001243597:exon17:c.C3039T:p.N1013N,CDON:NM_016952:exon17:c.C3039T:p.N1013N exonic ENSG00000064309 NA synonymous SNV ENSG00000064309:ENST00000531738:exon8:c.C1170T:p.N390N,ENSG00000064309:ENST00000263577:exon17:c.C3039T:p.N1013N,ENSG00000064309:ENST00000392693:exon17:c.C3039T:p.N1013N NA NA 11q24.2 Score=892;Name=V$TAL1ALPHAE47_01 NA NA NA rs684805 0.25 0.25 0.278 0.267572 0.2604 0.0655 0.2161 0.4955 0.2117 0.28 0.07 0.18 0.46 0.2582 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.737816 NA NA 0.270644 0.457746 NA 0.283 NA 5.8774226 1072 3 196742290 196742290 T C exonic MFI2 NA synonymous SNV MFI2:NM_005929:exon9:c.A1179G:p.P393P exonic ENSG00000163975 NA synonymous SNV ENSG00000163975:ENST00000296350:exon9:c.A1179G:p.P393P NA NA 3q29 Score=802;Name=V$PAX5_02 NA NA NA rs9855410 0.28 0.28 0.27 0.277356 0.2217 0.2827 0.1931 0.3956 0.229 0.21 0.28 0.19 0.44 0.3478 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889575 NA NA 0.220051 0.369318 NA 0.232 NA 5.8771156 1072 21 43531632 43531632 T C exonic UMODL1 NA nonsynonymous SNV UMODL1:NM_001199527:exon11:c.T2084C:p.I695T,UMODL1:NM_173568:exon11:c.T2300C:p.I767T,UMODL1:NM_001004416:exon12:c.T1916C:p.I639T,UMODL1:NM_001199528:exon12:c.T1700C:p.I567T exonic ENSG00000177398 NA nonsynonymous SNV ENSG00000177398:ENST00000400427:exon11:c.T2084C:p.I695T,ENSG00000177398:ENST00000408989:exon11:c.T2300C:p.I767T,ENSG00000177398:ENST00000400424:exon12:c.T1700C:p.I567T,ENSG00000177398:ENST00000408910:exon12:c.T1916C:p.I639T NA NA 21q22.3 NA Name=EBF NA NA rs220129 0.78 0.78 0.749 0.780351 0.8211 0.8621 0.8617 0.6104 0.8262 0.84 0.84 0.85 0.59 0.8208 0.85 1 T 0.0 B 0.0 B 0.233 N 1.000 P -0.975 N -0.49 T -0.957 T 0.000 T 0.02 -1.493 0.017 1.72 -0.010 0.060 6.829 -1.492611 NA 0.63 0.814565 0.664977 NA 0.783 NA 5.8768684 1072 22 31032920 31032920 A G exonic SLC35E4 NA synonymous SNV SLC35E4:NM_001001479:exon1:c.A483G:p.P161P exonic ENSG00000100036 NA synonymous SNV ENSG00000100036:ENST00000300385:exon1:c.A483G:p.P161P,ENSG00000100036:ENST00000343605:exon1:c.A483G:p.P161P,ENSG00000100036:ENST00000406566:exon1:c.A483G:p.P161P,ENSG00000100036:ENST00000451479:exon1:c.A411G:p.P137P NA NA 22q12.2 NA Name=CTCF,CTCF_(C-20) Name=14 NA rs5997714 0.63 0.63 0.631 0.6252 0.6004 0.4534 0.6801 0.8986 0.4192 0.6 0.47 0.61 0.87 0.5929 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 -0.640151 NA NA 0.596684 0.841002 ID=COSM1415741;OCCURENCE=1(large_intestine) 0.659 NA 5.8766826 1072 2 99193496 99193496 C T exonic INPP4A NA synonymous SNV INPP4A:NM_001134225:exon24:c.C2676T:p.S892S,INPP4A:NM_001134224:exon25:c.C2691T:p.S897S,INPP4A:NM_001566:exon25:c.C2574T:p.S858S,INPP4A:NM_004027:exon25:c.C2574T:p.S858S exonic ENSG00000040933 NA synonymous SNV ENSG00000040933:ENST00000409463:exon10:c.C678T:p.S226S,ENSG00000040933:ENST00000523221:exon23:c.C2691T:p.S897S,ENSG00000040933:ENST00000409851:exon24:c.C2676T:p.S892S,ENSG00000040933:ENST00000074304:exon25:c.C2691T:p.S897S,ENSG00000040933:ENST00000409016:exon25:c.C2574T:p.S858S,ENSG00000040933:ENST00000409540:exon25:c.C2574T:p.S858S,ENSG00000040933:ENST00000545415:exon25:c.C2574T:p.S858S Score=607;Name=lod=391 NA 2q11.2 NA NA NA NA rs2230388 0.25 0.25 0.234 0.25639 0.2714 0.2937 0.2968 0.1589 0.3057 0.26 0.27 0.3 0.18 0.259 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.325991 1.325991 NA 0.259702 0.166667 NA 0.181 NA 5.8765646 1072 1 176992553 176992553 A G exonic ASTN1 NA synonymous SNV ASTN1:NM_004319:exon7:c.T1425C:p.C475C,ASTN1:NM_207108:exon7:c.T1425C:p.C475C exonic ENSG00000152092 NA synonymous SNV ENSG00000152092:ENST00000361833:exon7:c.T1425C:p.C475C,ENSG00000152092:ENST00000367654:exon7:c.T1425C:p.C475C,ENSG00000152092:ENST00000367657:exon7:c.T1425C:p.C475C,ENSG00000152092:ENST00000424564:exon7:c.T1425C:p.C475C Score=730;Name=lod=1230 NA 1q25.2 Score=918;Name=V$RORA1_01 NA NA NA rs172917 0.51 0.51 0.538 0.514177 0.5895 0.2054 0.4957 0.792 0.3926 0.59 0.18 0.52 0.79 0.6051 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.02289 NA NA 0.595581 0.732743 NA 0.681 NA 5.8764856 1072 5 147499670 147499670 C T exonic SPINK5 NA synonymous SNV SPINK5:NM_001127698:exon25:c.C2412T:p.G804G,SPINK5:NM_001127699:exon25:c.C2412T:p.G804G,SPINK5:NM_006846:exon25:c.C2412T:p.G804G exonic ENSG00000133710 NA synonymous SNV ENSG00000133710:ENST00000256084:exon25:c.C2412T:p.G804G,ENSG00000133710:ENST00000359874:exon25:c.C2412T:p.G804G,ENSG00000133710:ENST00000398454:exon25:c.C2412T:p.G804G,ENSG00000133710:ENST00000508733:exon25:c.C2355T:p.G785G Score=433;Name=lod=77 NA 5q32 Score=874;Name=V$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 1072 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 1072 10 29840038 29840038 A G exonic SVIL NA synonymous SNV SVIL:NM_021738:exon6:c.T315C:p.I105I,SVIL:NM_003174:exon8:c.T315C:p.I105I exonic ENSG00000197321 NA synonymous SNV ENSG00000197321:ENST00000355867:exon6:c.T315C:p.I105I,ENSG00000197321:ENST00000375398:exon8:c.T315C:p.I105I,ENSG00000197321:ENST00000375400:exon8:c.T315C:p.I105I Score=336;Name=lod=31 NA 10p11.23 NA NA NA NA rs3740003 0.31 0.31 0.282 0.324481 0.2416 0.3472 0.2666 0.4228 0.2945 0.25 0.33 0.27 0.41 0.2849 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546227 NA NA 0.26407 0.416024 ID=COSM146922;OCCURENCE=1(stomach) 0.355 NA 5.8760966 1072 10 102766574 102766574 A G exonic LZTS2 NA synonymous SNV LZTS2:NM_032429:exon5:c.A1659G:p.A553A exonic ENSG00000107816 NA synonymous SNV ENSG00000107816:ENST00000370220:exon4:c.A1659G:p.A553A,ENSG00000107816:ENST00000370223:exon5:c.A1659G:p.A553A NA NA 10q24.31 NA NA Name=33 NA rs807024 0.37 0.37 0.321 0.367412 0.2346 0.5387 0.3271 0.385 0.3323 0.23 0.58 0.29 0.4 0.313 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.320841 1.320841 NA 0.243057 0.333105 NA 0.42 NA 5.8760096 1072 19 17163661 17163661 C T exonic HAUS8 NA synonymous SNV HAUS8:NM_001011699:exon10:c.G900A:p.T300T,HAUS8:NM_033417:exon10:c.G903A:p.T301T exonic ENSG00000131351 NA synonymous SNV ENSG00000131351:ENST00000593360:exon9:c.G720A:p.T240T,ENSG00000131351:ENST00000253669:exon10:c.G903A:p.T301T,ENSG00000131351:ENST00000448593:exon10:c.G900A:p.T300T NA NA 19p13.11 NA Name=CTCF NA NA rs2305758 0.21 0.21 0.198 0.217252 0.2714 0.0754 0.2666 0.2784 0.1902 0.29 0.06 0.26 0.24 0.2428 0.3 NA NA 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 0.27686 0.305039 NA 0.181 NA 5.8756066 1073 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 1073 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 1073 15 40915190 40915190 A G exonic CASC5 NA nonsynonymous SNV CASC5:NM_144508:exon10:c.A2728G:p.R910G,CASC5:NM_170589:exon11:c.A2806G:p.R936G exonic ENSG00000137812 NA nonsynonymous SNV ENSG00000137812:ENST00000399668:exon10:c.A2728G:p.R910G,ENSG00000137812:ENST00000346991:exon11:c.A2806G:p.R936G NA NA 15q15.1 NA NA NA NA rs8040502 0.7 0.7 0.726 0.705671 0.8559 0.3532 0.6225 0.9228 0.68 0.86 0.32 0.67 0.92 0.7589 0.92 1 T 0.0 B 0.0 B 0.170 N 1.000 P -2.085 N 2.57 T -1.015 T 0.000 T 0.021 0.153 4.825 3.03 0.529 0.612 7.485 0.153406 NA 1 0.84423 0.924258 ID=COSM147882;OCCURENCE=1(stomach) 0.739 NA 5.8743034 1073 19 47543774 47543774 G A exonic NPAS1 NA synonymous SNV NPAS1:NM_002517:exon8:c.G1035A:p.Q345Q exonic ENSG00000130751 NA nonsynonymous SNV ENSG00000130751:ENST00000594257:exon3:c.G233A:p.R78K Score=543;Name=lod=214 NA 19q13.32 Score=934;Name=V$CETS1P54_01 NA NA NA rs3745615 0.62 0.62 0.605 0.574681 0.7237 0.7192 0.6556 0.3177 0.5624 0.73 0.7 0.63 0.37 0.6819 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 1.170926 NA NA 0.720619 0.372104 ID=COSM1564343;OCCURENCE=1(large_intestine) 0.652 NA 5.873781 1073 19 2762585 2762585 A C exonic SGTA NA synonymous SNV SGTA:NM_003021:exon7:c.T555G:p.A185A exonic ENSG00000104969 NA synonymous SNV ENSG00000104969:ENST00000221566:exon7:c.T555G:p.A185A Score=460;Name=lod=99 NA 19p13.3 NA NA NA NA rs2302491 0.44 0.44 0.446 0.478035 0.2356 0.6647 0.2478 0.6513 0.4642 0.23 0.65 0.23 0.66 0.3302 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 0.228785 NA NA 0.227093 0.549478 NA 0.486 NA 5.8737736 1073 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 1073 5 131602166 131602166 T C exonic PDLIM4 NA synonymous SNV PDLIM4:NM_001131027:exon3:c.T255C:p.G85G,PDLIM4:NM_003687:exon3:c.T255C:p.G85G exonic ENSG00000131435 NA synonymous SNV ENSG00000131435:ENST00000253754:exon3:c.T255C:p.G85G,ENSG00000131435:ENST00000379018:exon3:c.T255C:p.G85G,ENSG00000131435:ENST00000418373:exon3:c.T78C:p.G26G Score=485;Name=lod=125 NA 5q31.1 NA Name=AP-2gamma,AP-2alpha NA NA rs1007602 0.54 0.54 0.548 0.482228 0.6054 0.3819 0.513 0.5855 0.2975 0.6 0.37 0.56 0.62 0.5389 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.366002 1.366002 NA 0.648837 0.598729 NA 0.594 NA 5.8735296 1073 12 124172555 124172555 A T intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA Name=NFKB,PU.1 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 1073 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 1073 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 1073 15 88680684 88680684 G A exonic NTRK3 NA synonymous SNV NTRK3:NM_001007156:exon7:c.C573T:p.N191N,NTRK3:NM_001012338:exon7:c.C573T:p.N191N,NTRK3:NM_001243101:exon7:c.C573T:p.N191N,NTRK3:NM_002530:exon7:c.C573T:p.N191N exonic ENSG00000140538 NA synonymous SNV ENSG00000140538:ENST00000540489:exon5:c.C573T:p.N191N,ENSG00000140538:ENST00000542733:exon5:c.C279T:p.N93N,ENSG00000140538:ENST00000557856:exon5:c.C573T:p.N191N,ENSG00000140538:ENST00000558676:exon5:c.C573T:p.N191N,ENSG00000140538:ENST00000317501:exon6:c.C573T:p.N191N,ENSG00000140538:ENST00000355254:exon6:c.C573T:p.N191N,ENSG00000140538:ENST00000357724:exon6:c.C573T:p.N191N,ENSG00000140538:ENST00000360948:exon6:c.C573T:p.N191N,ENSG00000140538:ENST00000394480:exon7:c.C573T:p.N191N NA NA 15q25.3 Score=769;Name=V$YY1_02 NA NA NA rs1128994 0.27 0.27 0.271 0.270767 0.2624 0.2222 0.2046 0.3555 0.2618 0.26 0.22 0.23 0.38 0.2631 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385351 NA NA 0.269481 0.368923 NA 0.355 NA 5.8716856 1073 4 175688141 175688141 G A exonic GLRA3 NA synonymous SNV GLRA3:NM_001042543:exon3:c.C240T:p.S80S,GLRA3:NM_006529:exon3:c.C240T:p.S80S exonic ENSG00000145451 NA synonymous SNV ENSG00000145451:ENST00000274093:exon3:c.C240T:p.S80S,ENSG00000145451:ENST00000340217:exon3:c.C240T:p.S80S Score=596;Name=lod=354 NA 4q34.1 NA NA NA NA rs12651268 0.35 0.35 0.026 0.338658 0.3708 0.5198 0.3242 0.1142 0.4325 0.38 0.48 0.37 0.13 0.3528 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.417208 1.417208 NA 0.072209 0.012029 NA 0.275 NA 5.8708576 1073 13 110850842 110850842 A G exonic COL4A1 NA synonymous SNV COL4A1:NM_001845:exon21:c.T1257C:p.P419P exonic ENSG00000187498 NA synonymous SNV ENSG00000187498:ENST00000375820:exon21:c.T1257C:p.P419P,ENSG00000187498:ENST00000543140:exon21:c.T1257C:p.P419P NA NA 13q34 Score=796;Name=V$OLF1_01 NA NA NA rs995224 0.21 0.21 0.165 0.20647 0.2664 0.0546 0.3732 0.2073 0.182 0.27 0.06 0.33 0.21 0.2589 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.986284 NA NA 0.271395 0.215615 NA 0.268 NA 5.8699716 1073 12 406292 406292 G A exonic KDM5A NA synonymous SNV KDM5A:NM_001042603:exon25:c.C4149T:p.S1383S exonic ENSG00000073614 NA synonymous SNV ENSG00000073614:ENST00000382815:exon25:c.C4149T:p.S1383S,ENSG00000073614:ENST00000399788:exon25:c.C4149T:p.S1383S Score=654;Name=lod=606 NA 12p13.33 NA NA NA NA rs2229351 0.35 0.35 0.336 0.352636 0.2326 0.5109 0.3199 0.3306 0.3661 0.24 0.5 0.32 0.36 0.3104 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.169729 NA NA 0.254017 0.315189 NA 0.283 NA 5.8696496 1073 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 1073 5 31423007 31423007 T C exonic DROSHA NA synonymous SNV DROSHA:NM_001100412:exon28:c.A3195G:p.P1065P,DROSHA:NM_013235:exon28:c.A3306G:p.P1102P exonic ENSG00000113360 NA synonymous SNV ENSG00000113360:ENST00000442743:exon25:c.A3195G:p.P1065P,ENSG00000113360:ENST00000344624:exon26:c.A3306G:p.P1102P,ENSG00000113360:ENST00000511367:exon28:c.A3306G:p.P1102P,ENSG00000113360:ENST00000513349:exon28:c.A3195G:p.P1065P Score=576;Name=lod=291 NA 5p13.3 NA NA NA NA rs2287584 0.44 0.44 0.468 0.452875 0.2495 0.6667 0.3213 0.5643 0.3845 0.25 0.7 0.3 0.54 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 0.630224 NA NA 0.218075 0.495063 NA 0.406 NA 5.8688916 1073 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 1073 12 25101843 25101843 A G intronic BCAT1 NA NA NA intronic ENSG00000060982 NA NA NA NA NA 12p12.1 NA Name=Pol2(b),ZBTB7A_(SC-34508),Pol2,TAF7_(SQ-8),TAF1,GABP,Pol2-4H8,HEY1 Name=138 NA rs80215395 0.02 0.02 0.013 0.0155751 0.0487 NA 0.0245 0.0008 0.0112 0.04 NA 0.03 0.002 0.0398 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 0.355571 NA NA 0.042861 0.008441 NA NA NA 5.868639 1073 6 29693011 29693011 C T exonic HLA-F NA nonsynonymous SNV HLA-F:NM_001098479:exon4:c.C814T:p.P272S,HLA-F:NM_018950:exon4:c.C814T:p.P272S exonic ENSG00000204642 NA nonsynonymous SNV ENSG00000204642:ENST00000259951:exon4:c.C814T:p.P272S,ENSG00000204642:ENST00000334668:exon4:c.C814T:p.P272S,ENSG00000204642:ENST00000440587:exon4:c.C460T:p.P154S,ENSG00000204642:ENST00000376861:exon5:c.C814T:p.P272S Score=499;Name=lod=142 NA 6p22.1 NA NA NA NA rs1736924 0.86 0.86 0.842 0.879393 0.8022 0.9831 0.8804 0.8177 0.9346 0.79 0.98 0.86 0.83 0.8474 0.98 1 T 0.0 B 0.0 B 0.475 N 1.000 P -0.285 N 3.91 T -0.941 T 0.001 T 0.198 -2.439 0.003 -0.675 -0.432 -0.018 5.997 -2.438824 NA 1 0.81612 0.814117 NA 0.848 NA 5.8676134 1073 15 64737225 64737225 G A exonic TRIP4 NA synonymous SNV TRIP4:NM_016213:exon12:c.G1596A:p.E532E exonic ENSG00000103671 NA synonymous SNV ENSG00000103671:ENST00000261884:exon12:c.G1596A:p.E532E Score=670;Name=lod=707 NA 15q22.31 Score=828;Name=V$PBX1_02 NA Name=7 NA rs7167612 0.89 0.89 0.856 0.817891 0.9632 0.9524 0.9481 0.6634 0.6462 0.97 0.95 0.94 0.64 0.8884 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.96681 2.96681 NA 0.947558 0.702678 NA 0.862 NA 5.8675086 1073 22 50895020 50895020 C T exonic SBF1 NA synonymous SNV SBF1:NM_002972:exon30:c.G3987A:p.A1329A exonic ENSG00000100241 NA synonymous SNV ENSG00000100241:ENST00000348911:exon29:c.G3912A:p.A1304A,ENSG00000100241:ENST00000390679:exon29:c.G3909A:p.A1303A,ENSG00000100241:ENST00000380817:exon30:c.G3987A:p.A1329A Score=259;Name=lod=15 NA 22q13.33 NA NA NA NA rs5771001 0.34 0.34 0.294 0.309305 0.2256 0.7133 0.3718 0.0832 0.2403 0.22 0.71 0.33 0.09 0.3831 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.362801 NA NA 0.190517 0.093607 NA 0.145 NA 5.8674496 1073 9 112900785 112900785 A G exonic AKAP2,PALM2-AKAP2 NA synonymous SNV AKAP2:NM_001004065:exon2:c.A2535G:p.S845S,AKAP2:NM_001136562:exon2:c.A2268G:p.S756S,AKAP2:NM_001198656:exon2:c.A2535G:p.S845S,PALM2-AKAP2:NM_007203:exon8:c.A2961G:p.S987S,PALM2-AKAP2:NM_147150:exon8:c.A2961G:p.S987S exonic ENSG00000157654,ENSG00000241978 NA synonymous SNV ENSG00000241978:ENST00000259318:exon2:c.A2268G:p.S756S,ENSG00000241978:ENST00000374525:exon2:c.A2535G:p.S845S,ENSG00000241978:ENST00000434623:exon2:c.A2535G:p.S845S,ENSG00000157654:ENST00000302798:exon8:c.A2961G:p.S987S,ENSG00000157654:ENST00000374530:exon8:c.A2961G:p.S987S,ENSG00000241978:ENST00000510514:exon8:c.A2961G:p.S987S,ENSG00000241978:ENST00000555236:exon8:c.A2961G:p.S987S NA NA 9q31.3 Score=941;Name=V$GATA3_01 NA NA NA rs3739456 0.37 0.37 0.324 0.326478 0.2575 0.6587 0.4107 0.1498 0.2342 0.27 0.67 0.35 0.19 0.296 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 0.017617 NA NA 0.246163 0.167499 ID=COSM1162332,COSM1162331;OCCURENCE=1(pancreas) 0.261 NA 5.8670036 1073 4 6325086 6325086 G A exonic PPP2R2C NA synonymous SNV PPP2R2C:NM_181876:exon9:c.C1287T:p.I429I,PPP2R2C:NM_001206994:exon10:c.C1266T:p.I422I,PPP2R2C:NM_001206995:exon10:c.C1266T:p.I422I,PPP2R2C:NM_001206996:exon10:c.C1236T:p.I412I exonic ENSG00000074211 NA synonymous SNV ENSG00000074211:ENST00000335585:exon9:c.C1287T:p.I429I,ENSG00000074211:ENST00000382599:exon9:c.C1287T:p.I429I,ENSG00000074211:ENST00000506140:exon10:c.C1266T:p.I422I,ENSG00000074211:ENST00000507294:exon10:c.C1266T:p.I422I,ENSG00000074211:ENST00000515571:exon10:c.C1236T:p.I412I Score=645;Name=lod=560 NA 4p16.1 NA Name=TCF4 NA NA rs3796403 0.65 0.65 0.638 0.653754 0.5795 0.9385 0.6614 0.4266 0.7382 0.56 0.93 0.66 0.45 0.6319 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 0.159856 NA NA 0.588837 0.456877 NA 0.522 NA 5.8664296 1073 11 68678962 68678962 T C exonic IGHMBP2 NA nonsynonymous SNV IGHMBP2:NM_002180:exon5:c.T602C:p.L201S exonic ENSG00000132740 NA nonsynonymous SNV ENSG00000132740:ENST00000255078:exon5:c.T602C:p.L201S NA NA 11q13.3 NA NA NA NA rs560096 0.7 0.7 0.687 0.680511 0.8509 0.4633 0.817 0.6029 0.7372 0.85 0.51 0.83 0.6 0.7719 0.85 0.89 T 0.0 B 0.001 B 0.978 N 1.000 P -0.53 N -1.57 D -0.988 T 0.000 T 0.037 -0.622 1.24 -1.58 -0.414 -0.070 5.028 -0.621672 NA 0.72 0.844201 0.650455 NA 0.775 NA 5.8663324 1073 11 4870298 4870298 T G exonic OR51S1 NA synonymous SNV OR51S1:NM_001004758:exon1:c.A141C:p.A47A exonic ENSG00000176922 NA synonymous SNV ENSG00000176922:ENST00000322101:exon1:c.A141C:p.A47A NA NA 11p15.4 NA Name=CTCF NA NA rs11601065 0.14 0.14 0.129 0.16853 0.2555 0.0675 0.1441 0.0227 0.3978 0.25 0.06 0.18 0.03 0.2523 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.061575 NA NA 0.292578 0.053158 NA 0.101 NA 5.8662886 1073 1 169510380 169510380 G A exonic F5 NA synonymous SNV F5:NM_000130:exon13:c.C3948T:p.L1316L exonic ENSG00000198734 NA synonymous SNV ENSG00000198734:ENST00000367796:exon13:c.C3963T:p.L1321L,ENSG00000198734:ENST00000367797:exon13:c.C3948T:p.L1316L NA NA 1q24.2 Score=905;Name=V$USF_02 NA NA NA rs9287090 0.24 0.24 0.19 0.263578 0.2535 0.248 0.3948 0.1717 0.3211 0.25 0.2 0.36 0.2 0.273 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.296258 NA NA 0.273953 0.186337 NA 0.239 NA 5.8662136 1073 1 169512120 169512120 G A exonic F5 NA synonymous SNV F5:NM_000130:exon13:c.C2208T:p.I736I exonic ENSG00000198734 NA synonymous SNV ENSG00000198734:ENST00000367796:exon13:c.C2223T:p.I741I,ENSG00000198734:ENST00000367797:exon13:c.C2208T:p.I736I NA NA 1q24.2 Score=895;Name=V$RORA2_01 NA NA NA rs6016 0.24 0.24 0.211 0.26278 0.2535 0.248 0.3948 0.1679 0.3221 0.25 0.2 0.36 0.2 0.2736 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429179 NA NA 0.273837 0.184521 NA 0.341 NA 5.8657296 1073 3 195497174 195497174 C G exonic MUC4 NA nonsynonymous SNV MUC4:NM_138297:exon4:c.G450C:p.M150I,MUC4:NM_004532:exon5:c.G603C:p.M201I,MUC4:NM_018406:exon6:c.G13311C:p.M4437I exonic ENSG00000145113 NA nonsynonymous SNV ENSG00000145113:ENST00000349607:exon4:c.G450C:p.M150I,ENSG00000145113:ENST00000346145:exon5:c.G603C:p.M201I,ENSG00000145113:ENST00000463781:exon6:c.G13311C:p.M4437I,ENSG00000145113:ENST00000477756:exon6:c.G13311C:p.M4437I,ENSG00000145113:ENST00000478156:exon6:c.G13311C:p.M4437I NA NA 3q29 NA NA NA NA rs2259102 0.84 0.84 0.87 0.828275 0.8439 0.8175 0.7118 0.9924 0.684 0.84 0.78 0.71 0.99 0.7996 0.99 0.24 T 0.003 B 0.0 B 0.244 N 1.000 P -0.345 N 1.61 T -1.060 T 0.000 T 0.085 0.579 7.125 -1.59 -0.593 -0.959 2.155 0.578731 NA 0.37 0.824186 0.963686 NA 0.891 NA 5.8656474 1073 12 2791132 2791132 A G exonic CACNA1C NA nonsynonymous SNV CACNA1C:NM_001129830:exon43:c.A5461G:p.M1821V,CACNA1C:NM_001167624:exon43:c.A5461G:p.M1821V,CACNA1C:NM_199460:exon45:c.A5605G:p.M1869V exonic ENSG00000151067 NA nonsynonymous SNV ENSG00000151067:ENST00000327702:exon43:c.A5461G:p.M1821V,ENSG00000151067:ENST00000399617:exon43:c.A5461G:p.M1821V NA NA 12p13.33 NA NA NA NA rs10774053 0.76 0.76 0.717 0.770567 0.83 0.6081 0.7651 0.7844 0.862 0.83 0.63 0.79 0.75 0.8068 0.83 1 T 0.0 B 0.0 B . . 1.000 P -0.345 N -3.57 D -0.971 T 0.000 T 0.01 -0.829 0.601 0.908 -0.044 -0.383 5.480 -0.828983 NA 0.53 0.83096 0.793686 NA 0.109 NA 5.8655734 1073 19 48863386 48863386 C T exonic TMEM143 NA synonymous SNV TMEM143:NM_018273:exon3:c.G312A:p.S104S exonic ENSG00000161558 NA synonymous SNV ENSG00000161558:ENST00000601522:exon2:c.G267A:p.S89S,ENSG00000161558:ENST00000293261:exon3:c.G312A:p.S104S,ENSG00000161558:ENST00000436660:exon3:c.G312A:p.S104S,ENSG00000161558:ENST00000598926:exon3:c.G312A:p.S104S Score=436;Name=lod=79 NA 19q13.33 Score=868;Name=V$USF_01 NA NA NA rs438767 0.55 0.55 0.512 0.538538 0.5924 0.6052 0.6614 0.3404 0.5951 0.59 0.64 0.65 0.31 0.5965 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.644389 NA NA 0.612209 0.372447 ID=COSM1163604;OCCURENCE=1(pancreas) 0.42 NA 5.8655576 1073 1 17319011 17319011 G A exonic ATP13A2 NA synonymous SNV ATP13A2:NM_001141973:exon17:c.C1800T:p.P600P,ATP13A2:NM_001141974:exon17:c.C1800T:p.P600P,ATP13A2:NM_022089:exon17:c.C1815T:p.P605P exonic ENSG00000159363 NA synonymous SNV ENSG00000159363:ENST00000503552:exon3:c.C285T:p.P95P,ENSG00000159363:ENST00000326735:exon17:c.C1815T:p.P605P,ENSG00000159363:ENST00000341676:exon17:c.C1800T:p.P600P,ENSG00000159363:ENST00000452699:exon17:c.C1800T:p.P600P Score=463;Name=lod=102 NA 1p36.13 NA NA NA NA rs2076603 0.46 0.46 0.438 0.448482 0.6153 0.2589 0.5216 0.4145 0.4663 0.61 0.29 0.51 0.38 0.554 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10487 NA NA 0.632326 0.44621 NA 0.558 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116434.1;CLNDSDB=.;CLNDSDBID=. 5.8650406 1074 5 7868030 7868030 T C exonic FASTKD3 NA nonsynonymous SNV FASTKD3:NM_024091:exon2:c.A167G:p.K56R exonic ENSG00000124279 NA nonsynonymous SNV ENSG00000124279:ENST00000507036:exon1:c.A167G:p.K56R,ENSG00000124279:ENST00000264669:exon2:c.A167G:p.K56R,ENSG00000124279:ENST00000504695:exon2:c.A167G:p.K56R,ENSG00000124279:ENST00000507572:exon2:c.A116G:p.K39R NA NA 5p15.31 Score=873;Name=V$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 1074 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$PAX5_02 NA NA NA rs10902170 0.8 0.8 0.796 0.79393 0.829 0.874 0.8718 0.7103 0.7331 0.81 0.85 0.84 0.7 0.8169 0.85 1 T 0.0 B 0.0 B 0.831 N 1.000 P -0.805 N 3.21 T -1.010 T 0.000 T 0.006 -2.978 0.001 -1.47 -0.556 0.149 5.062 -2.978478 NA 1 0.823057 0.71848 NA 0.659 NA 5.8643764 1074 8 141551407 141551407 G A exonic AGO2 NA synonymous SNV AGO2:NM_001164623:exon15:c.C1890T:p.R630R,AGO2:NM_012154:exon15:c.C1890T:p.R630R exonic ENSG00000123908 NA synonymous SNV ENSG00000123908:ENST00000220592:exon15:c.C1890T:p.R630R,ENSG00000123908:ENST00000519980:exon15:c.C1890T:p.R630R NA NA 8q24.3 Score=806;Name=V$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 1074 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 1074 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 1074 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 1074 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 1074 5 179996111 179996111 C T exonic CNOT6 NA synonymous SNV CNOT6:NM_015455:exon10:c.C1029T:p.S343S exonic ENSG00000113300 NA synonymous SNV ENSG00000113300:ENST00000261951:exon10:c.C1029T:p.S343S,ENSG00000113300:ENST00000393356:exon12:c.C1029T:p.S343S Score=516;Name=lod=166 NA 5q35.3 Score=800;Name=V$STAT5A_02 NA NA NA rs6877400 0.9 0.9 0.908 NA NA NA NA NA NA 0.9 1 0.9 0.79 0.9103 1 NA NA 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 0.894884 0.77281 NA 0.913 NA 5.8614826 1074 20 37055875 37055875 T C ncRNA_intronic LOC388796 NA NA NA ncRNA_intronic ENSG00000196756 NA NA NA NA NA 20q11.23 NA Name=c-Fos Name=99 NA rs707578 0.69 0.69 0.662 0.674121 0.8052 0.8056 0.7867 0.3638 0.7434 0.78 0.82 0.77 0.35 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 -0.194858 NA NA NA NA NA 0.587 NA 5.8614666 1074 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 1074 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=GATA-2,TAL1_(SC-12984),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 1074 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 1074 14 52509501 52509501 T C exonic NID2 NA synonymous SNV NID2:NM_007361:exon6:c.A1578G:p.E526E exonic ENSG00000087303 NA synonymous SNV ENSG00000087303:ENST00000216286:exon6:c.A1578G:p.E526E,ENSG00000087303:ENST00000541773:exon7:c.A1419G:p.E473E Score=376;Name=lod=45 NA 14q22.1 NA NA NA NA rs3818186 0.38 0.38 0.353 0.386581 0.2505 0.5466 0.4222 0.3933 0.3272 0.25 0.52 0.42 0.4 0.3088 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.246011 1.246011 NA 0.247326 0.357013 NA 0.42 NA 5.8600406 1074 7 88964000 88964000 C T exonic ZNF804B NA synonymous SNV ZNF804B:NM_181646:exon4:c.C1704T:p.F568F exonic ENSG00000182348 NA synonymous SNV ENSG00000182348:ENST00000333190:exon4:c.C1704T:p.F568F Score=272;Name=lod=17 NA 7q21.13 NA NA NA NA rs801839 0.48 0.48 0.513 0.509784 0.2336 0.7153 0.3401 0.7345 0.3988 0.24 0.68 0.36 0.72 0.339 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.782305 NA NA 0.234055 0.642629 NA 0.406 NA 5.8600116 1074 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 1074 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$CDPCR1_01 NA NA NA rs284663 0.61 0.61 0.614 0.617412 0.5934 0.4266 0.487 0.8631 0.5992 0.58 0.46 0.57 0.86 0.6022 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.218608 NA NA 0.611189 0.817068 NA 0.681 NA 5.8598776 1074 19 15198507 15198507 T C exonic OR1I1 NA nonsynonymous SNV OR1I1:NM_001004713:exon1:c.T631C:p.F211L exonic ENSG00000094661 NA nonsynonymous SNV ENSG00000094661:ENST00000209540:exon1:c.T631C:p.F211L NA NA 19p13.12 NA NA NA NA rs8108721 0.67 0.67 0.646 0.672923 0.829 0.622 0.7723 0.3812 0.8885 0.83 0.61 0.78 0.39 0.8013 0.84 1 T 0.0 B 0.003 B 0.017 N 1.000 P 0.705 N 1.43 T -0.930 T 0.000 T 0.014 -1.307 0.036 2.39 0.173 -0.383 3.758 -1.306501 NA 0.45 0.843488 0.440536 NA 0.674 NA 5.8595454 1074 16 84270381 84270381 G A exonic KCNG4 NA synonymous SNV KCNG4:NM_172347:exon2:c.C711T:p.S237S exonic ENSG00000168418 NA synonymous SNV ENSG00000168418:ENST00000308251:exon2:c.C711T:p.S237S,ENSG00000168418:ENST00000568181:exon2:c.C711T:p.S237S Score=518;Name=lod=170 NA 16q24.1 Score=744;Name=V$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 1074 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 1074 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 1074 4 72425863 72425863 C T exonic SLC4A4 NA synonymous SNV SLC4A4:NM_003759:exon20:c.C2859T:p.H953H,SLC4A4:NM_001098484:exon23:c.C2991T:p.H997H,SLC4A4:NM_001134742:exon23:c.C2991T:p.H997H exonic ENSG00000080493 NA synonymous SNV ENSG00000080493:ENST00000340595:exon20:c.C2859T:p.H953H,ENSG00000080493:ENST00000351898:exon21:c.C2739T:p.H913H,ENSG00000080493:ENST00000264485:exon23:c.C2991T:p.H997H,ENSG00000080493:ENST00000425175:exon23:c.C2991T:p.H997H Score=720;Name=lod=1127 NA 4q13.3 NA Name=JunD Name=71 NA rs1453458 0.81 0.81 0.805 0.782348 0.9642 0.75 0.8617 0.6104 0.8047 0.96 0.74 0.88 0.62 0.8891 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 0.808757 NA NA 0.955465 0.664775 NA 0.826 NA 5.8579016 1074 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 1074 7 107603431 107603431 A C exonic LAMB1 NA synonymous SNV LAMB1:NM_002291:exon15:c.T1776G:p.P592P exonic ENSG00000091136 NA synonymous SNV ENSG00000091136:ENST00000393561:exon13:c.T1848G:p.P616P,ENSG00000091136:ENST00000222399:exon15:c.T1776G:p.P592P,ENSG00000091136:ENST00000393560:exon15:c.T1776G:p.P592P Score=628;Name=lod=474 NA 7q31.1 NA NA NA NA rs2230156 0.28 0.28 0.286 0.285743 0.2495 0.249 0.2968 0.3752 0.2321 0.25 0.25 0.3 0.34 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 1.569684 1.569684 NA 0.278953 0.358375 NA 0.283 NA 5.8572136 1074 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 1074 6 89981413 89981413 T C exonic GABRR2 NA synonymous SNV GABRR2:NM_002043:exon3:c.A249G:p.V83V exonic ENSG00000111886 NA synonymous SNV ENSG00000111886:ENST00000402938:exon3:c.A249G:p.V83V,ENSG00000111886:ENST00000602399:exon3:c.A324G:p.V108V Score=562;Name=lod=256 NA 6q15 Score=919;Name=V$LMO2COM_01 NA NA NA rs282117 0.66 0.66 0.655 0.692292 0.5815 0.7292 0.5533 0.8207 0.6933 0.58 0.69 0.58 0.79 0.6283 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.45509 1.45509 NA 0.600116 0.782342 ID=COSM451902;OCCURENCE=1(breast) 0.609 NA 5.8567506 1074 11 123598941 123598941 T C exonic ZNF202 NA synonymous SNV ZNF202:NM_003455:exon7:c.A732G:p.V244V exonic ENSG00000166261 NA synonymous SNV ENSG00000166261:ENST00000529691:exon5:c.A732G:p.V244V,ENSG00000166261:ENST00000336139:exon6:c.A732G:p.V244V,ENSG00000166261:ENST00000530393:exon7:c.A732G:p.V244V NA NA 11q24.1 Score=704;Name=V$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 1074 7 29605935 29605935 G A UTR5 PRR15 NM_175887:c.-11G>A NA NA UTR5 ENSG00000176532 ENST00000319694:c.-11G>A,ENST00000450427:c.-11G>A NA NA NA NA 7p14.3 NA Name=ATF3 Name=18 NA rs2302617 0.16 0.16 0.148 0.168131 0.1451 0.3264 0.1153 0.0628 0.2086 0.15 0.31 0.09 0.06 0.1965 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.988016 1.988016 NA 0.136318 0.064021 NA 0.036 NA 5.8554154 1074 19 50411742 50411742 A G exonic NUP62 NA synonymous SNV NUP62:NM_001193357:exon2:c.T1323C:p.D441D,NUP62:NM_012346:exon2:c.T1323C:p.D441D,NUP62:NM_153718:exon2:c.T1323C:p.D441D,NUP62:NM_016553:exon3:c.T1323C:p.D441D,NUP62:NM_153719:exon3:c.T1323C:p.D441D exonic ENSG00000213024 NA synonymous SNV ENSG00000213024:ENST00000413454:exon2:c.T1323C:p.D441D,ENSG00000213024:ENST00000422090:exon2:c.T1323C:p.D441D,ENSG00000213024:ENST00000596217:exon2:c.T1323C:p.D441D,ENSG00000213024:ENST00000352066:exon3:c.T1323C:p.D441D,ENSG00000213024:ENST00000597029:exon3:c.T1323C:p.D441D,ENSG00000213024:ENST00000597723:exon4:c.T1095C:p.D365D NA NA 19q13.33 Score=897;Name=V$CDPCR3HD_01 Name=Pol2 NA NA rs892028 0.97 0.97 0.972 0.974042 0.9384 1 0.9697 0.9992 0.953 0.94 1 0.96 1 0.9444 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.541858 NA NA 0.928605 0.983659 NA 0.906 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117863.2;CLNDSDB=.;CLNDSDBID=. 5.8552616 1075 14 20920250 20920250 T C exonic OSGEP NA synonymous SNV OSGEP:NM_017807:exon3:c.A294G:p.Q98Q exonic ENSG00000092094 NA synonymous SNV ENSG00000092094:ENST00000206542:exon3:c.A294G:p.Q98Q,ENSG00000092094:ENST00000488532:exon3:c.A294G:p.Q98Q,ENSG00000092094:ENST00000553640:exon3:c.A294G:p.Q98Q Score=566;Name=lod=266 NA 14q11.2 Score=739;Name=V$PPARA_01 NA NA NA rs2275007 0.57 0.57 0.562 0.553115 0.6282 0.4514 0.451 0.6286 0.5511 0.62 0.44 0.52 0.67 0.5802 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 0.145717 NA NA 0.603488 0.607808 NA 0.58 NA 5.8547786 1075 2 20824559 20824559 C T exonic HS1BP3 NA synonymous SNV HS1BP3:NM_022460:exon5:c.G717A:p.E239E exonic ENSG00000118960 NA synonymous SNV ENSG00000118960:ENST00000458740:exon2:c.G174A:p.E58E,ENSG00000118960:ENST00000304031:exon5:c.G717A:p.E239E NA NA 2p24.1 NA NA NA NA rs2305457 0.29 0.29 0.258 0.275559 0.2614 0.4881 0.366 0.0333 0.3344 0.26 0.5 0.35 0.04 0.2916 0.5 . . . . . . . . 1.000 P . . . . -0.910 T 0.000 T . -1.064 0.179 0.696 0.580 -0.441 3.022 -1.06403 NA NA 0.258953 0.073763 NA 0.232 NA 5.8547136 1075 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 1075 17 16342833 16342833 T C ncRNA_exonic SNORD49B NA NA NA ncRNA_exonic ENSG00000175061 NA NA NA NA NA 17p11.2 NA Name=Pol2,Pol2-4H8 Name=39 NA rs11871958 0.16 0.16 0.152 0.150759 0.2883 0.0823 0.1844 0.056 0.184 0.29 0.06 0.19 0.07 0.2307 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.576972 1.576972 NA 0.295078 0.097603 NA 0.138 NA 5.8525886 1075 9 96714491 96714491 C G exonic BARX1 NA synonymous SNV BARX1:NM_021570:exon4:c.G720C:p.P240P exonic ENSG00000131668 NA synonymous SNV ENSG00000131668:ENST00000401724:exon3:c.G258C:p.P86P,ENSG00000131668:ENST00000253968:exon4:c.G720C:p.P240P Score=366;Name=lod=41 NA 9q22.32 NA NA NA NA rs11793856 0.21 0.21 0.198 0.203874 0.2823 0.0933 0.317 0.1815 0.1871 0.29 0.07 0.27 0.22 0.2555 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703225 NA NA 0.27686 0.201997 NA 0.21 NA 5.8520066 1075 3 38406773 38406773 G T exonic XYLB NA synonymous SNV XYLB:NM_005108:exon5:c.G375T:p.L125L exonic ENSG00000093217 NA synonymous SNV ENSG00000093217:ENST00000207870:exon5:c.G375T:p.L125L Score=393;Name=lod=53 NA 3p22.2 NA Name=USF-1 Name=2 NA rs704943 0.9 0.9 0.884 0.896565 0.9414 1 0.9409 0.702 0.9755 0.94 1 0.94 0.7 0.936 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.083757 NA NA 0.938488 0.760781 NA 0.891 NA 5.8507786 1075 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=Sin3Ak-20,SETDB1,PAX5-C20,NRSF,MEF2C_(SC-13268),YY1_(C-20),Max,Nrf1,c-Myc,Oct-2,ZNF263,SMC3_(ab9263),CCNT2,SUZ12,YY1,TCF12,E2F6_(H-50),CTCF,POU2F2,E2F6,USF-1,Pol2,USF2,HA-E2F1,USF1_(SC-8983),Pbx3,BCL3,NFKB,TAF1,Pol2-4H8,MEF2A,BCL11A 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 1075 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 1075 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 1075 2 27324751 27324751 G T exonic CGREF1 NA synonymous SNV CGREF1:NM_001166241:exon5:c.C60A:p.I20I,CGREF1:NM_001166239:exon6:c.C348A:p.I116I,CGREF1:NM_006569:exon6:c.C348A:p.I116I exonic ENSG00000138028 NA synonymous SNV ENSG00000138028:ENST00000404694:exon5:c.C714A:p.I238I,ENSG00000138028:ENST00000452318:exon5:c.C60A:p.I20I,ENSG00000138028:ENST00000260595:exon6:c.C348A:p.I116I,ENSG00000138028:ENST00000402394:exon6:c.C348A:p.I116I,ENSG00000138028:ENST00000405600:exon6:c.C348A:p.I116I,ENSG00000138028:ENST00000312734:exon7:c.C348A:p.I116I Score=381;Name=lod=47 NA 2p23.3 Score=901;Name=V$AREB6_02 NA NA NA rs2384572 0.55 0.55 0.531 0.54353 0.6193 0.7619 0.4481 0.267 0.682 0.64 0.73 0.48 0.27 0.5821 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 1.170812 NA NA 0.61491 0.314571 NA 0.514 NA 5.8503566 1075 1 22165901 22165901 A G exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon73:c.T9852C:p.A3284A exonic ENSG00000142798 NA synonymous SNV ENSG00000142798:ENST00000374695:exon73:c.T9852C:p.A3284A NA NA 1p36.12 Score=859;Name=V$IK3_01 NA NA NA rs2291826 0.31 0.31 0.34 0.346046 0.2724 0.1587 0.2435 0.553 0.408 0.26 0.17 0.28 0.57 0.2876 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257408 NA NA 0.257093 0.531094 NA 0.355 NA 5.8495736 1075 1 86959173 86959173 T C exonic CLCA1 NA nonsynonymous SNV CLCA1:NM_001285:exon10:c.T1571C:p.M524T exonic ENSG00000016490 NA nonsynonymous SNV ENSG00000016490:ENST00000394711:exon10:c.T1571C:p.M524T,ENSG00000016490:ENST00000234701:exon11:c.T1571C:p.M524T NA NA 1p22.3 NA NA Name=2 NA rs2791494 0.84 0.84 0.832 0.849641 0.8241 0.9058 0.8761 0.7753 0.8998 0.82 0.91 0.87 0.77 0.8419 0.91 0.76 T 0.0 B 0.0 B 0.938 N 1.000 P -1.32 N 1.67 T -0.952 T 0.006 T 0.022 -2.348 0.004 0.353 -0.440 -0.146 5.316 -2.348343 NA 0.57 0.817907 0.770086 NA 0.833 NA 5.8494264 1075 6 121629167 121629167 G A exonic C6orf170 NA synonymous SNV C6orf170:NM_152730:exon5:c.C645T:p.C215C exonic ENSG00000146350 NA synonymous SNV ENSG00000146350:ENST00000275159:exon5:c.C645T:p.C215C,ENSG00000146350:ENST00000398212:exon5:c.C645T:p.C215C Score=533;Name=lod=195 NA 6q22.31 NA NA NA NA rs9398629 0.31 0.31 0.309 0.315695 0.2644 0.5863 0.2118 0.0885 0.4703 0.27 0.59 0.22 0.11 0.2921 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868735 NA NA 0.260806 0.126761 NA 0.188 NA 5.8493606 1075 7 2752152 2752152 G A exonic AMZ1 NA synonymous SNV AMZ1:NM_133463:exon7:c.G1137A:p.S379S exonic ENSG00000174945 NA synonymous SNV ENSG00000174945:ENST00000312371:exon7:c.G1137A:p.S379S NA NA 7p22.3 NA NA Name=3 NA rs798565 0.22 0.22 0.211 0.179712 0.2793 0.2004 0.2464 0.0794 0.1442 0.3 0.19 0.28 0.09 0.2549 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.930815 NA NA 0.283205 0.100045 ID=COSM452924;OCCURENCE=1(breast),1(large_intestine) 0.239 NA 5.8492616 1075 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 1075 5 156747669 156747669 A G exonic CYFIP2 NA synonymous SNV CYFIP2:NM_001037332:exon15:c.A1530G:p.L510L,CYFIP2:NM_001037333:exon15:c.A1530G:p.L510L,CYFIP2:NM_014376:exon15:c.A1530G:p.L510L exonic ENSG00000055163 NA synonymous SNV ENSG00000055163:ENST00000435847:exon6:c.A552G:p.L184L,ENSG00000055163:ENST00000522463:exon10:c.A942G:p.L314L,ENSG00000055163:ENST00000541131:exon12:c.A1305G:p.L435L,ENSG00000055163:ENST00000521420:exon14:c.A1452G:p.L484L,ENSG00000055163:ENST00000347377:exon15:c.A1530G:p.L510L,ENSG00000055163:ENST00000377576:exon15:c.A1530G:p.L510L,ENSG00000055163:ENST00000318218:exon16:c.A1530G:p.L510L Score=468;Name=lod=106 NA 5q33.3 NA NA NA NA rs1823035 0.31 0.31 0.325 0.33147 0.2654 0.2738 0.2017 0.525 0.2894 0.27 0.24 0.2 0.53 0.2837 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.004236 NA NA 0.269277 0.470753 NA 0.326 NA 5.8482896 1075 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 1075 12 69115698 69115698 G A exonic NUP107 NA synonymous SNV NUP107:NM_020401:exon16:c.G1389A:p.Q463Q exonic ENSG00000111581 NA synonymous SNV ENSG00000111581:ENST00000538993:exon2:c.G120A:p.Q40Q,ENSG00000111581:ENST00000378905:exon15:c.G936A:p.Q312Q,ENSG00000111581:ENST00000229179:exon16:c.G1389A:p.Q463Q,ENSG00000111581:ENST00000539906:exon16:c.G1302A:p.Q434Q Score=428;Name=lod=73 NA 12q15 NA NA NA NA rs17851475 0.23 0.23 0.215 0.219848 0.2922 0.2996 0.2968 0.059 0.226 0.29 0.27 0.28 0.07 0.2546 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.817163 NA NA 0.273023 0.091693 NA 0.152 NA 5.8468436 1075 2 27169842 27169842 C A exonic DPYSL5 NA synonymous SNV DPYSL5:NM_001253723:exon13:c.C1674A:p.G558G,DPYSL5:NM_001253724:exon13:c.C1674A:p.G558G,DPYSL5:NM_020134:exon13:c.C1674A:p.G558G exonic ENSG00000157851 NA synonymous SNV ENSG00000157851:ENST00000288699:exon13:c.C1674A:p.G558G,ENSG00000157851:ENST00000401478:exon13:c.C1674A:p.G558G Score=542;Name=lod=212 NA 2p23.3 Score=819;Name=V$PAX3_01 NA NA NA rs11126784 0.58 0.58 0.558 0.57488 0.6262 0.7083 0.4625 0.4175 0.6769 0.65 0.66 0.49 0.43 0.5829 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 0.981247 NA NA 0.610814 0.440082 NA 0.507 NA 5.8467526 1075 2 158485075 158485075 G T intronic ACVR1C NA NA NA intronic ENSG00000123612 NA NA NA NA NA 2q24.1 NA Name=CTCF,E2F6_(H-50),CTCF_(SC-5916),Rad21,TCF4,ERalpha_a,SMC3_(ab9263) Name=123 NA rs114245489 0.03 0.03 0.027 0.0207668 0.0547 NA 0.0461 0.0015 0.0153 0.05 NA 0.06 0.01 0.0503 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 1.185446 NA NA 0.048996 0.006958 NA 0.029 NA 5.846004 1075 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 1075 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 1075 10 115412793 115412793 A G exonic NRAP NA synonymous SNV NRAP:NM_001261463:exon6:c.T471C:p.Y157Y,NRAP:NM_006175:exon6:c.T471C:p.Y157Y,NRAP:NM_198060:exon6:c.T471C:p.Y157Y exonic ENSG00000197893 NA synonymous SNV ENSG00000197893:ENST00000359988:exon6:c.T471C:p.Y157Y,ENSG00000197893:ENST00000360478:exon6:c.T471C:p.Y157Y,ENSG00000197893:ENST00000369358:exon6:c.T471C:p.Y157Y,ENSG00000197893:ENST00000369360:exon6:c.T471C:p.Y157Y Score=366;Name=lod=41 NA 10q25.3 NA NA NA NA rs3737322 0.3 0.3 0.294 0.308107 0.2664 0.2173 0.2378 0.4887 0.2505 0.28 0.23 0.22 0.44 0.2767 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.353546 NA NA 0.277907 0.447094 NA 0.326 NA 5.8456596 1075 3 7620828 7620828 G A exonic GRM7 NA synonymous SNV GRM7:NM_000844:exon8:c.G2235A:p.G745G,GRM7:NM_181874:exon8:c.G2235A:p.G745G exonic ENSG00000196277 NA synonymous SNV ENSG00000196277:ENST00000357716:exon8:c.G2235A:p.G745G,ENSG00000196277:ENST00000389335:exon8:c.G2235A:p.G745G,ENSG00000196277:ENST00000389336:exon8:c.G2235A:p.G745G,ENSG00000196277:ENST00000402647:exon8:c.G2235A:p.G745G,ENSG00000196277:ENST00000403881:exon8:c.G2235A:p.G745G,ENSG00000196277:ENST00000440923:exon8:c.G2235A:p.G745G,ENSG00000196277:ENST00000467425:exon8:c.G2235A:p.G745G,ENSG00000196277:ENST00000486284:exon8:c.G2235A:p.G745G NA NA 3p26.1 Score=763;Name=V$PAX5_02 NA NA NA rs1485174 0.2 0.2 0.172 0.170727 0.2932 0.1399 0.2565 0.0552 0.1718 0.3 0.15 0.28 0.05 0.2507 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.251357 NA NA 0.277674 0.08443 NA 0.138 NA 5.8450926 1076 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 1076 15 45047573 45047573 C T exonic TRIM69 NA nonsynonymous SNV TRIM69:NM_182985:exon2:c.C482T:p.T161M exonic ENSG00000185880 NA nonsynonymous SNV ENSG00000185880:ENST00000329464:exon2:c.C482T:p.T161M,ENSG00000185880:ENST00000559390:exon3:c.C482T:p.T161M Score=321;Name=lod=27 NA 15q21.1 NA NA NA NA rs3100139 0.77 0.77 0.779 0.717851 0.8469 0.7718 0.7435 0.587 0.6881 0.84 0.81 0.78 0.61 0.7998 0.84 0.22 T 0.218 B 0.032 B 0.728 N 0.000 P 0 N 1.14 T -1.033 T 0.000 T 0.06 0.456 6.476 -1.94 -0.584 -0.793 6.848 0.456054 NA 0.19 0.841903 0.650591 NA 0.804 NA 5.8447304 1076 11 102576375 102576375 G A exonic MMP27 NA nonsynonymous SNV MMP27:NM_022122:exon1:c.C71T:p.T24M exonic ENSG00000137675 NA nonsynonymous SNV ENSG00000137675:ENST00000260229:exon1:c.C71T:p.T24M NA NA 11q22.2 NA NA NA NA rs1939015 0.79 0.79 0.786 0.778155 0.834 0.8135 0.8184 0.7035 0.7566 0.83 0.8 0.79 0.73 0.8199 0.83 0.29 T 0.002 B 0.003 B 0.036 N 1.000 P 0.26 N 1.28 T -1.037 T 0.000 T 0.033 -1.536 0.016 -1.96 -0.404 -0.956 0.913 -1.536266 NA 0.15 0.834962 0.736723 ID=COSM1579495;OCCURENCE=1(ovary) 0.732 NA 5.8444714 1076 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 1076 1 19652063 19652063 G A exonic PQLC2 NA synonymous SNV PQLC2:NM_001040125:exon4:c.G369A:p.T123T,PQLC2:NM_001040126:exon4:c.G174A:p.T58T,PQLC2:NM_017765:exon5:c.G369A:p.T123T exonic ENSG00000040487 NA synonymous SNV ENSG00000040487:ENST00000432465:exon2:c.G84A:p.T28T,ENSG00000040487:ENST00000375153:exon4:c.G369A:p.T123T,ENSG00000040487:ENST00000400548:exon4:c.G174A:p.T58T,ENSG00000040487:ENST00000375155:exon5:c.G369A:p.T123T NA NA 1p36.13 NA Name=CCNT2,Egr-1,ZBTB7A_(SC-34508) NA NA rs11558390 0.17 0.17 0.167 0.20607 0.2873 0.0833 0.183 0.1589 0.3292 0.28 0.06 0.2 0.12 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 0.697331 NA NA 0.288256 0.183386 NA 0.297 NA 5.8434106 1076 1 205308368 205308368 C T exonic KLHDC8A NA synonymous SNV KLHDC8A:NM_018203:exon4:c.G711A:p.R237R,KLHDC8A:NM_001271864:exon5:c.G711A:p.R237R,KLHDC8A:NM_001271865:exon6:c.G711A:p.R237R,KLHDC8A:NM_001271863:exon7:c.G711A:p.R237R exonic ENSG00000162873 NA synonymous SNV ENSG00000162873:ENST00000606181:exon2:c.G309A:p.R103R,ENSG00000162873:ENST00000537168:exon3:c.G372A:p.R124R,ENSG00000162873:ENST00000367155:exon4:c.G711A:p.R237R,ENSG00000162873:ENST00000460687:exon4:c.G309A:p.R103R,ENSG00000162873:ENST00000539253:exon4:c.G711A:p.R237R,ENSG00000162873:ENST00000367156:exon7:c.G711A:p.R237R Score=522;Name=lod=176 NA 1q32.1 NA NA NA NA rs1105387 0.17 0.17 0.189 0.180112 0.2813 0.0308 0.134 0.2247 0.2025 0.26 0.02 0.14 0.23 0.2448 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.351694 1.351694 NA 0.297442 0.223332 NA 0.225 NA 5.8431246 1076 3 7620168 7620168 A G exonic GRM7 NA synonymous SNV GRM7:NM_000844:exon8:c.A1575G:p.L525L,GRM7:NM_181874:exon8:c.A1575G:p.L525L exonic ENSG00000196277 NA synonymous SNV ENSG00000196277:ENST00000445087:exon5:c.A546G:p.L182L,ENSG00000196277:ENST00000357716:exon8:c.A1575G:p.L525L,ENSG00000196277:ENST00000389335:exon8:c.A1575G:p.L525L,ENSG00000196277:ENST00000389336:exon8:c.A1575G:p.L525L,ENSG00000196277:ENST00000402647:exon8:c.A1575G:p.L525L,ENSG00000196277:ENST00000403881:exon8:c.A1575G:p.L525L,ENSG00000196277:ENST00000440923:exon8:c.A1575G:p.L525L,ENSG00000196277:ENST00000467425:exon8:c.A1575G:p.L525L,ENSG00000196277:ENST00000486284:exon8:c.A1575G:p.L525L Score=313;Name=lod=25 NA 3p26.1 NA NA NA NA rs34373930 0.2 0.2 0.178 0.170527 0.2932 0.1379 0.2565 0.0552 0.1728 0.3 0.14 0.28 0.05 0.2518 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.881144 NA NA 0.278721 0.084203 NA 0.138 NA 5.8429456 1076 1 111731318 111731318 A T intronic DENND2D NA NA NA intronic ENSG00000162777 NA NA NA Score=343;Name=lod=33 NA 1p13.3 Score=799;Name=V$HNF1_C NA NA NA rs78859767 0.03 0.03 0.027 0.0179712 0.0586 NA 0.0288 0.0015 0.0092 0.07 NA 0.03 0.002 0.0414 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 0.597228 NA NA 0.057326 0.013845 NA 0.007 NA 5.842674 1076 1 224492746 224492746 C T exonic NVL NA synonymous SNV NVL:NM_001243146:exon4:c.G90A:p.L30L,NVL:NM_001243147:exon6:c.G465A:p.L155L,NVL:NM_206840:exon6:c.G420A:p.L140L,NVL:NM_002533:exon7:c.G738A:p.L246L exonic ENSG00000143748 NA synonymous SNV ENSG00000143748:ENST00000492281:exon3:c.G453A:p.L151L,ENSG00000143748:ENST00000340871:exon4:c.G90A:p.L30L,ENSG00000143748:ENST00000361463:exon6:c.G420A:p.L140L,ENSG00000143748:ENST00000391875:exon6:c.G420A:p.L140L,ENSG00000143748:ENST00000436927:exon6:c.G426A:p.L142L,ENSG00000143748:ENST00000469075:exon6:c.G465A:p.L155L,ENSG00000143748:ENST00000488718:exon6:c.G465A:p.L155L,ENSG00000143748:ENST00000281701:exon7:c.G738A:p.L246L,ENSG00000143748:ENST00000467882:exon7:c.G738A:p.L246L NA NA 1q42.11 NA NA Name=5 NA rs3754090 0.85 0.85 0.83 0.820088 0.9672 0.8899 0.9337 0.5242 0.9162 0.97 0.9 0.93 0.55 0.9137 0.97 . . . . . . . . 0.157 P . . . . -1.032 T 0.000 T . -0.558 1.48 2.68 0.300 0.128 2.222 -0.55759 NA NA 0.943488 0.594417 NA 0.826 NA 5.8422786 1076 19 11326119 11326119 A G exonic DOCK6 NA synonymous SNV DOCK6:NM_020812:exon32:c.T4050C:p.N1350N exonic ENSG00000130158 NA synonymous SNV ENSG00000130158:ENST00000319867:exon18:c.T2067C:p.N689N,ENSG00000130158:ENST00000294618:exon32:c.T4050C:p.N1350N Score=452;Name=lod=92 NA 19p13.2 Score=967;Name=V$HSF1_01 NA NA NA rs2304155 0.54 0.54 0.526 0.500799 0.6292 0.5119 0.5101 0.41 0.4734 0.63 0.5 0.55 0.43 0.5701 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.260019 NA NA 0.62554 0.471619 NA 0.674 NA 5.8418266 1076 16 88061150 88061150 C T exonic BANP NA synonymous SNV BANP:NM_001173540:exon7:c.C858T:p.I286I,BANP:NM_001173541:exon7:c.C840T:p.I280I,BANP:NM_017869:exon7:c.C840T:p.I280I,BANP:NM_079837:exon7:c.C840T:p.I280I,BANP:NM_001173539:exon8:c.C957T:p.I319I,BANP:NM_001173542:exon8:c.C957T:p.I319I,BANP:NM_001173543:exon8:c.C933T:p.I311I exonic ENSG00000172530 NA synonymous SNV ENSG00000172530:ENST00000355022:exon7:c.C840T:p.I280I,ENSG00000172530:ENST00000355163:exon7:c.C858T:p.I286I,ENSG00000172530:ENST00000393208:exon7:c.C840T:p.I280I,ENSG00000172530:ENST00000479780:exon7:c.C840T:p.I280I,ENSG00000172530:ENST00000286122:exon8:c.C933T:p.I311I,ENSG00000172530:ENST00000393207:exon8:c.C933T:p.I311I,ENSG00000172530:ENST00000538234:exon8:c.C957T:p.I319I NA NA 16q24.2 Score=789;Name=V$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 1076 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$NRSF_01 NA NA NA rs6953296 0.68 0.68 0.649 0.669129 0.6014 0.7609 0.7622 0.7065 0.5276 0.6 0.76 0.73 0.67 0.6274 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.031576 NA NA 0.596279 0.693373 NA 0.565 NA 5.8415876 1076 14 74441684 74441684 G A exonic ENTPD5 NA synonymous SNV ENTPD5:NM_001249:exon11:c.C727T:p.L243L exonic ENSG00000187097 NA synonymous SNV ENSG00000187097:ENST00000334696:exon11:c.C727T:p.L243L,ENSG00000187097:ENST00000557325:exon11:c.C727T:p.L243L Score=563;Name=lod=259 NA 14q24.3 Score=838;Name=V$PPARG_03 NA NA NA rs2074932 0.48 0.48 0.454 0.48762 0.6123 0.2649 0.6787 0.3707 0.6115 0.62 0.28 0.66 0.36 0.5902 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 1.058542 NA NA 0.623256 0.394235 NA 0.5 NA 5.8409106 1076 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 1076 15 49325289 49325289 A C exonic SECISBP2L NA synonymous SNV SECISBP2L:NM_001193489:exon4:c.T537G:p.L179L,SECISBP2L:NM_014701:exon4:c.T537G:p.L179L exonic ENSG00000138593 NA synonymous SNV ENSG00000138593:ENST00000261847:exon4:c.T537G:p.L179L,ENSG00000138593:ENST00000559424:exon4:c.T537G:p.L179L,ENSG00000138593:ENST00000559471:exon4:c.T537G:p.L179L Score=478;Name=lod=117 NA 15q21.1 NA Name=GATA3_(SC-268) NA NA rs11638215 0.45 0.45 0.438 0.42512 0.6461 0.3512 0.3991 0.2292 0.5573 0.67 0.34 0.43 0.26 0.5539 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 0.179567 NA NA 0.626426 0.303823 NA 0.326 NA 5.8402406 1076 3 183368216 183368216 A T exonic KLHL24 NA synonymous SNV KLHL24:NM_017644:exon3:c.A72T:p.R24R exonic ENSG00000114796 NA synonymous SNV ENSG00000114796:ENST00000476808:exon1:c.A72T:p.R24R,ENSG00000114796:ENST00000427201:exon2:c.A72T:p.R24R,ENSG00000114796:ENST00000482138:exon2:c.A72T:p.R24R,ENSG00000114796:ENST00000493074:exon2:c.A72T:p.R24R,ENSG00000114796:ENST00000242810:exon3:c.A72T:p.R24R,ENSG00000114796:ENST00000454495:exon3:c.A72T:p.R24R,ENSG00000114796:ENST00000468001:exon3:c.A72T:p.R24R,ENSG00000114796:ENST00000473045:exon3:c.A72T:p.R24R,ENSG00000114796:ENST00000437402:exon4:c.A72T:p.R24R,ENSG00000114796:ENST00000454652:exon4:c.A72T:p.R24R,ENSG00000114796:ENST00000468101:exon4:c.A72T:p.R24R Score=699;Name=lod=927 NA 3q27.1 NA NA NA NA rs3755648 0.37 0.37 0.374 0.350439 0.2654 0.4355 0.2795 0.5144 0.1789 0.24 0.47 0.28 0.51 0.2857 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.021804 NA NA 0.275581 0.482524 ID=COSM149525;OCCURENCE=1(stomach) 0.29 NA 5.8399856 1076 17 39743081 39743081 G A exonic KRT14 NA synonymous SNV KRT14:NM_000526:exon1:c.C6T:p.T2T exonic ENSG00000186847 NA synonymous SNV ENSG00000186847:ENST00000167586:exon1:c.C6T:p.T2T Score=452;Name=lod=92 NA 17q21.2 NA Name=Pol2,Pol2(b) NA NA rs11551759 0.67 0.67 0.616 0.680511 0.5845 0.9425 0.7248 0.4788 0.7505 0.58 0.95 0.69 0.48 0.6715 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 0.927044 NA NA 0.571337 0.507965 NA 0.616 NA 5.8393296 1076 7 44606098 44606098 C T exonic DDX56 NA synonymous SNV DDX56:NM_001257189:exon12:c.G1395A:p.V465V,DDX56:NM_019082:exon13:c.G1515A:p.V505V exonic ENSG00000136271 NA synonymous SNV ENSG00000136271:ENST00000448192:exon5:c.G330A:p.V110V,ENSG00000136271:ENST00000431640:exon12:c.G1395A:p.V465V,ENSG00000136271:ENST00000258772:exon13:c.G1515A:p.V505V NA NA 7p13 NA Name=PU.1,Pol2 Name=4 NA rs6656 0.74 0.74 0.769 0.75619 0.5746 0.8393 0.6311 0.9349 0.7045 0.58 0.87 0.64 0.93 0.6639 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 0.669419 NA NA 0.588928 0.863409 ID=COSM453115;OCCURENCE=1(breast) 0.609 NA 5.8392386 1076 22 37678565 37678565 G A UTR5 CYTH4 NM_013385:c.-46G>A NA NA UTR5 ENSG00000100055 ENST00000457992:c.-46G>A,ENST00000248901:c.-46G>A,ENST00000402997:c.-46G>A,ENST00000405206:c.-46G>A NA NA NA NA 22q13.1 Score=788;Name=V$HEN1_01 Name=Pol2,Pol2-4H8,ELF1_(SC-631),STAT3,PU.1 Name=41 NA rs3213557 0.36 0.36 0.338 0.329073 0.5229 0.2014 0.3415 0.2602 0.3456 0.52 0.21 0.37 0.28 0.4389 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.244829 NA NA 0.532674 0.312528 NA 0.304 NA 5.8388594 1076 15 38988760 38988760 T A upstream C15orf53 NA NA NA upstream ENSG00000175779 NA NA NA Score=284;Name=lod=19 NA 15q14 NA Name=NFKB,BATF Name=63 NA rs7171233 0.2 0.2 0.196 0.194688 0.2624 0.0992 0.255 0.177 0.2045 0.25 0.1 0.27 0.19 0.2632 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290183 NA NA 0.302769 0.208182 NA 0.239 NA 5.8382976 1076 1 147121977 147121977 C T exonic ACP6 NA nonsynonymous SNV ACP6:NM_016361:exon8:c.G946A:p.V316M exonic ENSG00000162836 NA nonsynonymous SNV ENSG00000162836:ENST00000369238:exon8:c.G946A:p.V316M NA NA 1q21.2 NA NA NA NA rs6593795 0.99 0.99 0.983 0.984425 1 1 0.9986 0.9418 1 1 1 1 0.95 0.9958 1 0.19 T 0.588 P 0.089 B 0.641 N 1.000 P 1.21 L 1.53 T -1.028 T 0.019 T 0.031 1.464 10.84 0.112 -0.171 -1.021 6.681 1.464356 1.464356 0.2 0.999767 0.957558 NA 0.978 NA 5.8377664 1076 1 236557771 236557771 G A exonic EDARADD NA nonsynonymous SNV EDARADD:NM_145861:exon1:c.G27A:p.M9I exonic ENSG00000186197 NA nonsynonymous SNV ENSG00000186197:ENST00000334232:exon1:c.G27A:p.M9I NA NA 1q42.3 NA NA Name=42 NA rs966365 0.77 0.77 0.766 0.776757 0.825 0.9187 0.8631 0.4682 0.9366 0.81 0.93 0.84 0.46 0.8308 0.93 0.33 T 0.0 B 0.0 B 0.683 U 1.000 P 1.87 L -0.73 T -0.991 T 0.000 T 0.061 1.71 11.68 1.33 0.485 -0.083 3.147 1.709715 1.709715 NA 0.839767 0.540399 NA 0.681 NA 5.8377664 1076 10 95791763 95791763 G A exonic PLCE1 NA synonymous SNV PLCE1:NM_016341:exon2:c.G960A:p.E320E exonic ENSG00000138193 NA synonymous SNV ENSG00000138193:ENST00000371380:exon1:c.G960A:p.E320E,ENSG00000138193:ENST00000260766:exon2:c.G960A:p.E320E Score=575;Name=lod=290 NA 10q23.33 NA NA NA NA rs17109674 0.4 0.4 0.423 0.378195 0.2883 0.4415 0.2176 0.5393 0.3016 0.3 0.47 0.25 0.57 0.286 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.719635 NA NA 0.254892 0.458131 NA 0.406 NA 5.8374746 1076 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$E2F_01 NA NA NA rs1060442 0.62 0.62 0.67 0.621206 0.6133 0.6667 0.5259 0.6596 0.5982 0.61 0.66 0.52 0.67 0.6015 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.305499 1.305499 NA 0.614651 0.625284 NA 0.667 NA 5.8372156 1076 15 80260014 80260014 T C exonic BCL2A1 NA synonymous SNV BCL2A1:NM_001114735:exon2:c.A441G:p.T147T exonic ENSG00000140379 NA synonymous SNV ENSG00000140379:ENST00000335661:exon2:c.A441G:p.T147T NA NA 15q25.1 NA NA Name=22 NA rs8026803 0.37 0.37 0.354 0.389377 0.2584 0.5288 0.2925 0.3956 0.4407 0.25 0.53 0.35 0.38 0.3141 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367349 NA NA 0.256979 0.365753 NA 0.37 NA 5.8371876 1076 17 80708601 80708601 C G exonic FN3K NA synonymous SNV FN3K:NM_022158:exon6:c.C900G:p.S300S exonic ENSG00000167363 NA synonymous SNV ENSG00000167363:ENST00000300784:exon6:c.C900G:p.S300S NA NA 17q25.3 NA Name=SETDB1 Name=13 NA rs1056534 0.64 0.64 0.635 0.655152 0.6014 0.6518 0.6686 0.68 0.6708 0.59 0.64 0.62 0.71 0.6226 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788904 NA NA 0.606279 0.642533 NA 0.565 NA 5.8363876 1076 20 61391367 61391367 C A intronic NTSR1 NA NA NA intronic ENSG00000101188 NA NA NA Score=579;Name=lod=301 NA 20q13.33 NA NA Name=3 NA rs78644145 0.05 0.05 0.041 0.0553115 0.0596 0.0198 0.0202 0.0877 0.0685 0.05 0.02 0.03 0.08 0.0552 0.082 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196687 NA NA 0.049535 0.082388 NA 0.043 NA 5.835665 1076 11 55339798 55339798 C T exonic OR4C16 NA synonymous SNV OR4C16:NM_001004701:exon1:c.C195T:p.S65S exonic ENSG00000181935 NA synonymous SNV ENSG00000181935:ENST00000314634:exon1:c.C195T:p.S65S NA NA 11q11 Score=883;Name=V$GATA1_04 NA NA NA rs557667 0.28 0.28 0.257 0.257188 0.2843 0.3909 0.3242 0.1188 0.2311 0.29 0.37 0.35 0.12 0.2805 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211976 NA NA 0.266411 0.141072 NA 0.225 NA 5.8354556 1076 2 48915871 48915871 A G exonic LHCGR NA synonymous SNV LHCGR:NM_000233:exon11:c.T1065C:p.D355D exonic ENSG00000138039 NA synonymous SNV ENSG00000138039:ENST00000344775:exon10:c.T879C:p.D293D,ENSG00000138039:ENST00000405626:exon10:c.T984C:p.D328D,ENSG00000138039:ENST00000294954:exon11:c.T1065C:p.D355D Score=621;Name=lod=446 NA 2p16.3 Score=931;Name=V$FOXJ2_02 NA NA NA rs11125179 0.64 0.64 0.616 0.592252 0.6382 0.9236 0.6643 0.2542 0.6094 0.62 0.93 0.72 0.26 0.6026 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 0.468426 NA NA 0.590465 0.313663 NA 0.493 NA 5.8354016 1076 2 153405594 153405594 G A exonic FMNL2 NA synonymous SNV FMNL2:NM_052905:exon4:c.G342A:p.L114L exonic ENSG00000157827 NA synonymous SNV ENSG00000157827:ENST00000288670:exon4:c.G342A:p.L114L Score=658;Name=lod=630 NA 2q23.3 NA NA Name=41 NA rs1155779 0.63 0.63 0.607 0.652356 0.5865 0.7976 0.6715 0.4902 0.7761 0.59 0.8 0.62 0.52 0.6537 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 0.046515 NA NA 0.591356 0.495033 NA 0.486 NA 5.8351106 1077 2 167168093 167168093 C T exonic SCN9A NA synonymous SNV SCN9A:NM_002977:exon2:c.G174A:p.Q58Q exonic ENSG00000169432 NA synonymous SNV ENSG00000169432:ENST00000409435:exon1:c.G174A:p.Q58Q,ENSG00000169432:ENST00000303354:exon2:c.G174A:p.Q58Q,ENSG00000169432:ENST00000375387:exon2:c.G174A:p.Q58Q,ENSG00000169432:ENST00000409672:exon2:c.G174A:p.Q58Q Score=602;Name=lod=374 NA 2q24.3 NA NA NA NA rs6432901 0.56 0.56 0.571 0.574281 0.6083 0.4087 0.4611 0.7617 0.5368 0.59 0.39 0.53 0.74 0.5874 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 0.941471 NA NA 0.636885 0.757942 NA 0.623 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118295.2;CLNDSDB=.;CLNDSDBID=. 5.8340816 1077 6 26597333 26597333 A G exonic ABT1 NA synonymous SNV ABT1:NM_013375:exon1:c.A123G:p.K41K exonic ENSG00000146109 NA synonymous SNV ENSG00000146109:ENST00000274849:exon1:c.A123G:p.K41K Score=407;Name=lod=60 NA 6p22.2 NA Name=ZNF263,YY1,Pol2(b),ELK4,Sin3Ak-20,YY1_(C-20),ELF1_(SC-631),KAP1,HEY1,Pol2-4H8,TAF1,ZEB1_(SC-25388),TAF7_(SQ-8),Pol2 NA NA rs3800302 0.66 0.66 0.61 0.708666 0.5696 0.7917 0.6412 0.7345 0.7791 0.58 0.77 0.61 0.71 0.6411 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 0.249821 NA NA 0.622558 0.695642 NA 0.594 NA 5.8334086 1077 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 1077 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 1077 12 7080212 7080212 T C splicing EMG1 NM_006331:exon1:c.125+1T>C,NM_006331:exon2:c.126-1T>C NA NA ncRNA_exonic ENSG00000126749,ENSG00000255896,ENSG00000272062 NA NA NA Score=578;Name=lod=297 NA 12p13.31 NA Name=HA-E2F1,Pol2,Pol2(phosphoS2),TAF7_(SQ-8),Pol2-4H8,TAF1,NFKB,GATA-1,ELF1_(SC-631),HEY1,KAP1,c-Myc,Max,YY1_(C-20),Mxi1_(bHLH),Sin3Ak-20,YY1,Pol2(b) Name=4 NA rs17857448 NA NA NA 1 1 1 1 1 1 NA NA NA 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 NA 2.981784 2.981784 1 NA NA NA NA NA 5.8333333 1077 17 80923536 80923536 C T exonic B3GNTL1 NA synonymous SNV B3GNTL1:NM_001009905:exon7:c.G591A:p.E197E exonic ENSG00000175711 NA synonymous SNV ENSG00000175711:ENST00000572977:exon3:c.G57A:p.E19E,ENSG00000175711:ENST00000320865:exon7:c.G591A:p.E197E,ENSG00000175711:ENST00000576599:exon7:c.G258A:p.E86E Score=401;Name=lod=57 NA 17q25.3 NA NA NA NA rs4986144 0.26 0.26 0.241 0.223043 0.2336 0.3214 0.1974 0.233 0.1155 0.25 0.34 0.18 0.24 0.3087 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315055 NA NA 0.291114 0.229914 ID=COSM1685434;OCCURENCE=1(skin) 0.254 NA 5.8332526 1077 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 1077 2 192279327 192279327 T C exonic MYO1B NA synonymous SNV MYO1B:NM_012223:exon27:c.T2917C:p.L973L,MYO1B:NM_001130158:exon29:c.T3091C:p.L1031L,MYO1B:NM_001161819:exon29:c.T3091C:p.L1031L exonic ENSG00000128641 NA synonymous SNV ENSG00000128641:ENST00000439065:exon10:c.T826C:p.L276L,ENSG00000128641:ENST00000339514:exon27:c.T2917C:p.L973L,ENSG00000128641:ENST00000392316:exon27:c.T3004C:p.L1002L,ENSG00000128641:ENST00000304164:exon29:c.T3091C:p.L1031L,ENSG00000128641:ENST00000392318:exon29:c.T3091C:p.L1031L Score=454;Name=lod=93 NA 2q32.3 NA NA NA NA rs2271767 0.78 0.78 0.758 0.749601 0.9632 0.9395 0.8372 0.2572 0.9376 0.96 0.92 0.85 0.27 0.9019 0.97 . . . . . . . . 0.000 P . . . . -1.020 T 0.000 T . 1.036 9.232 0.961 0.052 1.612 7.524 1.036084 NA NA 0.968953 0.370631 NA 0.688 NA 5.8326136 1077 10 5788608 5788608 G C exonic FAM208B NA nonsynonymous SNV FAM208B:NM_017782:exon15:c.G3224C:p.R1075P exonic ENSG00000108021 NA nonsynonymous SNV ENSG00000108021:ENST00000328090:exon15:c.G3224C:p.R1075P NA NA 10p15.1 NA NA NA NA rs2797491 0.84 0.84 0.851 0.836062 0.839 0.8135 0.8761 0.8873 0.7587 0.84 0.81 0.86 0.89 0.8346 0.89 1 T 0.0 B 0.0 B 0.121 N 1.000 P -1.65 N 2.53 T -1.010 T 0.000 T 0.053 -2.557 0.003 3.26 0.675 0.385 6.068 -2.556583 NA 1 0.82791 0.873724 NA 0.819 NA 5.8318234 1077 8 21984650 21984650 A G exonic HR NA synonymous SNV HR:NM_005144:exon3:c.T1305C:p.F435F,HR:NM_018411:exon3:c.T1305C:p.F435F exonic ENSG00000168453 NA synonymous SNV ENSG00000168453:ENST00000312841:exon3:c.T1305C:p.F435F,ENSG00000168453:ENST00000381418:exon3:c.T1305C:p.F435F Score=289;Name=lod=20 NA 8p21.3 Score=710;Name=V$LUN1_01 NA NA NA rs12675745 0.55 0.55 0.523 0.579273 0.5984 0.3948 0.4914 0.6906 0.6616 0.59 0.4 0.51 0.68 0.6123 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.447274 NA NA 0.624179 0.705775 ID=COSM454302;OCCURENCE=1(breast) 0.58 NA 5.8317876 1077 14 106967052 106967052 C A intergenic LINC00221,NONE dist=15523;dist=NONE NA NA exonic ENSG00000211962 NA synonymous SNV ENSG00000211962:ENST00000390622:exon2:c.G348T:p.A116A NA NA 14q32.33 NA Name=EBF1_(C-8),EBF Name=4 NA rs11848941 0.16 0.16 0.151 0.151158 0.2416 0.0188 0.1124 0.1604 0.2096 0.25 0.03 0.15 0.16 0.2006 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.523861 NA NA 0.226216 0.174789 NA 0.116 NA 5.831584 1077 10 97916272 97916272 C T exonic ZNF518A NA unknown UNKNOWN ncRNA_exonic ENSG00000177853 NA NA NA Score=500;Name=lod=144 NA 10q24.1 NA NA NA NA rs200299587 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0005 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 2.471395 2.471395 0 0.000983 0 NA NA NA 5.8308503 1077 3 137787192 137787192 T C exonic DZIP1L NA nonsynonymous SNV DZIP1L:NM_173543:exon13:c.A1633G:p.T545A exonic ENSG00000158163 NA nonsynonymous SNV ENSG00000158163:ENST00000327532:exon13:c.A1633G:p.T545A NA NA 3q22.3 NA NA NA NA rs446644 0.67 0.67 0.637 0.628794 0.8608 0.626 0.7767 0.3094 0.7198 0.86 0.64 0.75 0.36 0.7717 0.87 0.7 T 0.039 B 0.011 B 0.290 N 1.000 P 0.69 N 1.04 T -0.995 T 0.000 T 0.009 0.841 8.398 -0.849 -0.383 -1.127 3.469 0.841212 NA 0.35 0.870349 0.43872 NA 0.667 NA 5.8304844 1077 3 183273129 183273129 C G intronic KLHL6 NA NA NA intronic ENSG00000172578 NA NA NA NA NA 3q27.1 NA Name=CTCF,CTCF_(C-20) Name=14 NA rs12163540 0.06 0.06 0.053 0.0477236 0.0606 0.0407 0.0403 0.0673 0.0204 0.06 0.05 0.04 0.09 0.0515 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 1.952582 1.952582 NA 0.057907 0.067635 NA 0.051 NA 5.829993 1077 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 1077 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 1077 4 120474859 120474859 A G exonic PDE5A NA synonymous SNV PDE5A:NM_001083:exon8:c.T1242C:p.Y414Y,PDE5A:NM_033430:exon8:c.T1116C:p.Y372Y,PDE5A:NM_033437:exon8:c.T1086C:p.Y362Y exonic ENSG00000138735 NA synonymous SNV ENSG00000138735:ENST00000264805:exon8:c.T1116C:p.Y372Y,ENSG00000138735:ENST00000354960:exon8:c.T1242C:p.Y414Y,ENSG00000138735:ENST00000394439:exon8:c.T1086C:p.Y362Y Score=624;Name=lod=458 NA 4q26 NA NA NA NA rs11947234 0.3 0.3 0.283 0.265775 0.2863 0.3929 0.2867 0.2118 0.1718 0.29 0.4 0.25 0.22 0.2656 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.036122 NA NA 0.286279 0.208125 NA 0.217 NA 5.8284876 1077 8 133975283 133975283 G A exonic TG NA nonsynonymous SNV TG:NM_003235:exon29:c.G5512A:p.D1838N exonic ENSG00000042832 NA nonsynonymous SNV ENSG00000042832:ENST00000542445:exon8:c.G622A:p.D208N,ENSG00000042832:ENST00000377869:exon28:c.G5341A:p.D1781N,ENSG00000042832:ENST00000220616:exon29:c.G5512A:p.D1838N NA NA 8q24.22 NA NA NA NA rs2069561 0.37 0.37 0.315 0.346845 0.5089 0.3452 0.5259 0.0333 0.4785 0.52 0.35 0.51 0.05 0.4846 0.52 0.06 T 0.015 B 0.008 B 0.070 N 1.000 P 1.87 L -0.03 T -0.908 T 0.000 T 0.037 1.072 9.376 1.66 0.374 0.528 6.41 1.071724 NA 0.11 0.511395 0.120291 ID=COSM150550;OCCURENCE=1(stomach) 0.326 NA 5.8284384 1077 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 1077 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 1077 1 156556321 156556321 G A exonic TTC24 NA synonymous SNV TTC24:NM_001105669:exon11:c.G1728A:p.S576S exonic ENSG00000187862 NA synonymous SNV ENSG00000187862:ENST00000368237:exon10:c.G1728A:p.S576S,ENSG00000187862:ENST00000368236:exon11:c.G1728A:p.S576S Score=313;Name=lod=25 NA 1q23.1 NA NA NA NA rs10796961 0.81 0.81 0.788 0.767971 0.9573 0.9692 0.9063 0.2859 0.9192 0.96 0.97 0.91 0.31 0.9156 0.97 . . . . . . . . 0.000 P . . . . -0.989 T 0.014 T . 0.129 4.693 -4.94 -0.811 -0.233 1.059 0.128799 NA NA 0.966492 0.449564 NA 0.681 NA 5.8272746 1077 11 59837097 59837097 C T exonic MS4A3 NA synonymous SNV MS4A3:NM_001031666:exon4:c.C195T:p.T65T,MS4A3:NM_001031809:exon5:c.C426T:p.T142T,MS4A3:NM_006138:exon6:c.C564T:p.T188T exonic ENSG00000149516 NA synonymous SNV ENSG00000149516:ENST00000395032:exon4:c.C195T:p.T65T,ENSG00000149516:ENST00000534744:exon4:c.C426T:p.T142T,ENSG00000149516:ENST00000358152:exon5:c.C426T:p.T142T,ENSG00000149516:ENST00000278865:exon6:c.C564T:p.T188T NA NA 11q12.1 NA NA Name=13 NA rs528823 0.25 0.25 0.253 0.300719 0.2724 0.2272 0.1844 0.2859 0.5082 0.28 0.19 0.21 0.29 0.2888 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104664 NA NA 0.278463 0.250114 NA 0.268 NA 5.8270036 1077 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 1077 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 1077 10 72500863 72500863 C G exonic ADAMTS14 NA synonymous SNV ADAMTS14:NM_080722:exon12:c.C1869G:p.S623S,ADAMTS14:NM_139155:exon12:c.C1878G:p.S626S exonic ENSG00000138316 NA synonymous SNV ENSG00000138316:ENST00000373207:exon12:c.C1869G:p.S623S,ENSG00000138316:ENST00000373208:exon12:c.C1878G:p.S626S Score=583;Name=lod=311 NA 10q22.1 Score=814;Name=V$CEBP_C NA NA NA rs10999500 0.7 0.7 0.696 0.667133 0.6113 0.8571 0.5663 0.6498 0.6237 0.63 0.85 0.59 0.7 0.6276 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 1.299194 1.299194 NA 0.601512 0.650477 NA 0.572 NA 5.8262546 1077 11 122795688 122795688 T C exonic C11orf63 NA synonymous SNV C11orf63:NM_024806:exon4:c.T948C:p.D316D exonic ENSG00000109944 NA synonymous SNV ENSG00000109944:ENST00000531316:exon3:c.T948C:p.D316D,ENSG00000109944:ENST00000227349:exon4:c.T948C:p.D316D Score=487;Name=lod=127 NA 11q24.1 NA NA NA NA rs11218891 0.2 0.2 0.183 0.180312 0.2903 0.2024 0.2104 0.0764 0.1636 0.28 0.17 0.25 0.07 0.2437 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.371566 1.371566 NA 0.306467 0.112398 NA 0.29 NA 5.8261996 1077 6 52849230 52849230 G A intronic GSTA4 NA NA NA intronic ENSG00000170899 NA NA NA NA NA 6p12.2 NA Name=EBF1_(C-8) Name=44 NA rs4986947 0.02 0.02 0.024 0.0227636 0.0557 NA 0.0187 0.0023 0.0429 0.06 NA 0.02 NA 0.0501 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 0.581433 NA NA 0.068256 0.014299 NA 0.029 NA 5.825944 1077 3 183368891 183368891 C T exonic KLHL24 NA synonymous SNV KLHL24:NM_017644:exon3:c.C747T:p.H249H exonic ENSG00000114796 NA synonymous SNV ENSG00000114796:ENST00000476808:exon1:c.C747T:p.H249H,ENSG00000114796:ENST00000242810:exon3:c.C747T:p.H249H,ENSG00000114796:ENST00000454652:exon4:c.C747T:p.H249H Score=410;Name=lod=62 NA 3q27.1 NA NA NA NA rs2293031 0.37 0.37 0.387 0.353235 0.2714 0.4355 0.2867 0.5151 0.181 0.24 0.47 0.29 0.51 0.2904 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309656 NA NA 0.279419 0.485474 NA 0.29 NA 5.8254476 1077 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 1077 10 97917556 97917556 G C exonic ZNF518A NA unknown UNKNOWN ncRNA_exonic ENSG00000177853 NA NA NA Score=278;Name=lod=18 NA 10q24.1 NA NA NA NA rs41291602 0.0009 0.0009 0.001 0.000599042 0.002 NA NA NA 0.001 0.0026 NA NA NA 0.0029 0.0034 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.569141 NA 0 0.003417 0.001084 NA NA NA 5.8250163 1078 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 1078 11 26705310 26705310 A G exonic SLC5A12 NA synonymous SNV SLC5A12:NM_178498:exon11:c.T1302C:p.N434N exonic ENSG00000148942 NA synonymous SNV ENSG00000148942:ENST00000396005:exon11:c.T1302C:p.N434N,ENSG00000148942:ENST00000527405:exon11:c.T742C:p.L248L Score=486;Name=lod=126 NA 11p14.2 Score=897;Name=V$SRY_02 NA NA NA rs3924551 0.45 0.45 0.456 0.435104 0.6342 0.3472 0.3689 0.3185 0.5256 0.64 0.35 0.42 0.29 0.5898 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.262998 1.262998 NA 0.617761 0.377054 NA 0.377 NA 5.8249056 1078 11 870095 870095 G A intronic CHID1 NA NA NA intronic ENSG00000177830 NA NA NA NA NA 11p15.5 NA Name=Pol2-4H8,CTCF Name=14 NA rs113580509 0.08 0.08 NA 0.096845 0.0875 0.121 0.0793 0.0303 0.184 0.1 0.09 0.08 0.03 0.0879 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 -0.488605 NA NA NA NA NA 0.051 NA 5.8246 1078 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 1078 19 9005674 9005674 G A exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon46:c.C39732T:p.D13244D exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon46:c.C39732T:p.D13244D NA NA 19p13.2 NA NA NA NA rs4804091 0.23 0.23 0.21 0.220447 0.2793 0.2212 0.2939 0.1528 0.1984 0.27 0.25 0.28 0.13 0.2636 0.3 . . . . . . . . . . . . . . -0.966 T 0.000 T . -0.215 2.958 -0.436 -0.105 -0.480 3.311 -0.215194 NA NA 0.299474 0.194336 NA 0.21 NA 5.8242926 1078 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 1078 2 51149072 51149072 T C intronic NRXN1 NA NA NA intronic ENSG00000179915 NA NA NA Score=679;Name=lod=768 NA 2p16.3 NA NA NA Score=79;Name=1215575_0_+_79 rs7423296 0.06 0.06 0.059 0.0640974 0.0934 0.0089 0.0749 0.0431 0.1115 0.09 0.01 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 3.106662 3.106662 NA 0.08265 0.061416 NA 0.043 NA 5.82395 1078 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 1078 15 81624768 81624768 C T exonic TMC3 NA nonsynonymous SNV TMC3:NM_001080532:exon22:c.G3295A:p.D1099N exonic ENSG00000188869 NA nonsynonymous SNV ENSG00000188869:ENST00000359440:exon22:c.G3295A:p.D1099N,ENSG00000188869:ENST00000558726:exon22:c.G3298A:p.D1100N NA NA 15q25.1 NA NA NA NA rs4417518 0.81 0.81 0.836 0.751997 0.8529 0.7192 0.7075 0.8949 0.5204 0.85 0.71 0.78 0.9 0.7968 0.9 1 T 0.0 B 0.0 B 0.002 N 1.000 P -1.1 N 0.51 T -0.980 T 0.000 T 0.016 -1.543 0.015 0.3 -0.510 1.601 5.739 -1.543358 NA 1 0.860273 0.889662 ID=COSM434408;OCCURENCE=1(breast) 0.768 NA 5.8233604 1078 17 32904586 32904586 C T exonic C17orf102 NA nonsynonymous SNV C17orf102:NM_207454:exon2:c.G464A:p.R155K exonic ENSG00000197322 NA nonsynonymous SNV ENSG00000197322:ENST00000357754:exon2:c.G464A:p.R155K NA NA 17q12 NA NA NA NA rs887230 0.83 0.83 0.826 0.796526 0.834 0.7778 0.7997 0.8601 0.6892 0.84 0.8 0.81 0.87 0.8248 0.87 0 D 0.0 B 0.0 B . . 1.000 P -0.55 N 1.19 T -1.048 T 0.000 T 0.005 0.338 5.832 0.846 -0.129 -0.063 3.247 0.337677 NA NA 0.85119 0.870673 NA 0.87 NA 5.8233434 1078 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 1078 4 6302707 6302707 C T exonic WFS1 NA synonymous SNV WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V exonic ENSG00000109501 NA synonymous SNV ENSG00000109501:ENST00000226760:exon8:c.C1185T:p.V395V,ENSG00000109501:ENST00000503569:exon8:c.C1185T:p.V395V Score=632;Name=lod=492 NA 4p16.1 NA NA NA NA rs1801206 0.67 0.67 0.653 0.641573 0.6213 0.9038 0.6715 0.4455 0.636 0.61 0.94 0.66 0.43 0.6245 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 0.443976 NA NA 0.598256 0.464821 NA 0.565 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000038635.4;CLNDSDB=.;CLNDSDBID=. 5.8226106 1078 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 1078 15 51791559 51791559 A G exonic DMXL2 NA nonsynonymous SNV DMXL2:NM_001174116:exon18:c.T3862C:p.S1288P,DMXL2:NM_015263:exon18:c.T3862C:p.S1288P exonic ENSG00000104093 NA nonsynonymous SNV ENSG00000104093:ENST00000251076:exon18:c.T3862C:p.S1288P,ENSG00000104093:ENST00000543779:exon18:c.T3862C:p.S1288P NA NA 15q21.2 NA NA NA NA rs12102203 0.48 0.48 0.453 0.4373 0.5149 0.4087 0.4914 0.3941 0.407 0.52 0.45 0.48 0.43 0.4925 0.52 0.21 T 0.0 B 0.0 B 0.232 N 1.000 P 0.805 L 1.98 T -0.935 T 0.000 T 0.055 -0.912 0.413 1.7 0.088 0.251 9.326 -0.912045 NA 0.21 0.504542 0.433455 ID=COSM147908;OCCURENCE=1(stomach) 0.348 NA 5.8213914 1078 16 19079170 19079170 C A intronic COQ7 NA NA NA intronic ENSG00000167186 NA NA NA NA NA 16p12.3 NA Name=JunD,TR4,AP-2gamma,CCNT2,TBP,Pol2(b),PAX5-N19,ZBTB7A_(SC-34508),THAP1_(SC-98174),PAX5-C20,STAT3,SRF,ETS1,ELF1_(SC-631),HNF4A,GATA-1,ATF3,Pbx3,TAF1,c-Jun,HMGN3,RFX5_(N-494),GABP,USF-1,Pol2,USF2,CHD2_(N-1250),USF1_(SC-8983) Name=147 NA rs35787586 0.17 0.17 0.152 0.152556 0.1789 0.1488 0.2262 0.143 0.09 0.19 0.16 0.2 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 2.336092 2.336092 NA NA NA NA 0.159 NA 5.8211 1078 15 27184517 27184517 G A intronic GABRA5 NA NA NA exonic ENSG00000166206 NA nonsynonymous SNV ENSG00000166206:ENST00000541819:exon1:c.C67T:p.R23C NA NA 15q12 NA NA NA NA rs17647384 0.35 0.35 0.351 0.33766 0.4573 0.3442 0.4683 0.1362 0.3875 0.46 0.33 0.42 0.13 0.4237 0.46 0.17 T 0.0 B 0.0 B 0.106 N 1.000 P . . -1.51 D -1.021 T 0.000 T 0.051 0.545 6.949 0.088 0.015 -0.141 5.455 0.544942 NA 0.39 0.464591 0.175799 NA 0.304 NA 5.8210757 1078 5 665280 665280 T C exonic TPPP NA synonymous SNV TPPP:NM_007030:exon4:c.A597G:p.S199S exonic ENSG00000171368 NA synonymous SNV ENSG00000171368:ENST00000360578:exon4:c.A597G:p.S199S NA NA 5p15.33 Score=919;Name=V$AP1_01 Name=ERalpha_a NA NA rs1697963 0.7 0.7 0.706 0.721446 0.6064 0.6915 0.6988 0.9266 0.6094 0.61 0.63 0.7 0.92 0.6335 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 -0.974741 NA NA 0.606047 0.888561 ID=COSM1438473;OCCURENCE=1(large_intestine) 0.63 NA 5.8207196 1078 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 1078 3 128182074 128182074 G A exonic DNAJB8 NA synonymous SNV DNAJB8:NM_153330:exon3:c.C15T:p.Y5Y exonic ENSG00000179407 NA synonymous SNV ENSG00000179407:ENST00000469083:exon2:c.C15T:p.Y5Y,ENSG00000179407:ENST00000319153:exon3:c.C15T:p.Y5Y Score=457;Name=lod=96 NA 3q21.3 NA NA NA NA rs2981026 0.33 0.33 0.317 0.307508 0.2753 0.4891 0.3573 0.1316 0.3558 0.26 0.52 0.38 0.16 0.3062 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.108572 NA NA 0.264535 0.149342 NA 0.261 NA 5.8206316 1078 X 129349295 129349295 T G exonic ZNF280C NA synonymous SNV ZNF280C:NM_017666:exon15:c.A1851C:p.G617G exonic ENSG00000056277 NA synonymous SNV ENSG00000056277:ENST00000447817:exon14:c.A1704C:p.G568G,ENSG00000056277:ENST00000370978:exon15:c.A1851C:p.G617G Score=513;Name=lod=162 NA Xq26.1 NA NA NA NA rs209238 0.49 0.49 0.47933 NA NA NA NA NA NA 0.42 0.37 0.53 0.72 0.4453 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363065 NA NA 0.401011 0.68266 NA 0.428 NA 5.8203556 1078 1 156640503 156640503 C T exonic NES NA synonymous SNV NES:NM_006617:exon4:c.G3477A:p.G1159G exonic ENSG00000132688 NA synonymous SNV ENSG00000132688:ENST00000368223:exon4:c.G3477A:p.G1159G NA NA 1q23.1 NA Name=Pol2-4H8 NA NA rs3828043 0.23 0.23 0.193 0.223842 0.3022 0.2946 0.2867 0.0159 0.3067 0.29 0.28 0.28 0.02 0.2583 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009403 NA NA 0.285814 0.063323 NA 0.138 NA 5.8203526 1078 2 192250726 192250726 G A exonic MYO1B NA synonymous SNV MYO1B:NM_001130158:exon16:c.G1470A:p.E490E,MYO1B:NM_001161819:exon16:c.G1470A:p.E490E,MYO1B:NM_012223:exon16:c.G1470A:p.E490E exonic ENSG00000128641 NA synonymous SNV ENSG00000128641:ENST00000392316:exon15:c.G1470A:p.E490E,ENSG00000128641:ENST00000304164:exon16:c.G1470A:p.E490E,ENSG00000128641:ENST00000339514:exon16:c.G1470A:p.E490E,ENSG00000128641:ENST00000392318:exon16:c.G1470A:p.E490E Score=596;Name=lod=352 NA 2q32.3 NA Name=GATA-2,c-Fos,PU.1 Name=41 NA rs13018796 0.81 0.81 0.784 0.779952 0.9642 0.9405 0.8429 0.3654 0.9407 0.97 0.93 0.86 0.39 0.9113 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 0.94084 NA NA 0.971512 0.460281 NA 0.703 NA 5.8196546 1078 7 99799845 99799845 T A exonic STAG3 NA synonymous SNV STAG3:NM_012447:exon24:c.T2445A:p.I815I exonic ENSG00000066923 NA synonymous SNV ENSG00000066923:ENST00000394018:exon22:c.T2271A:p.I757I,ENSG00000066923:ENST00000317296:exon24:c.T2445A:p.I815I,ENSG00000066923:ENST00000426455:exon24:c.T2445A:p.I815I NA NA 7q22.1 Score=794;Name=V$CMYB_01 NA NA NA rs1043915 0.39 0.39 0.355 0.393171 0.2664 0.621 0.5173 0.3343 0.2802 0.27 0.59 0.45 0.32 0.3176 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46293 NA NA 0.26314 0.340899 NA 0.442 NA 5.8195266 1078 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 1078 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 1078 4 6303955 6303955 G A exonic WFS1 NA synonymous SNV WFS1:NM_001145853:exon8:c.G2433A:p.K811K,WFS1:NM_006005:exon8:c.G2433A:p.K811K exonic ENSG00000109501 NA synonymous SNV ENSG00000109501:ENST00000226760:exon8:c.G2433A:p.K811K,ENSG00000109501:ENST00000503569:exon8:c.G2433A:p.K811K NA NA 4p16.1 Score=844;Name=V$HMX1_01 NA NA NA rs1046314 0.68 0.68 0.65 0.653155 0.6213 0.9038 0.6772 0.4871 0.635 0.61 0.94 0.67 0.47 0.6294 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 -0.012158 NA NA 0.596628 0.505901 NA 0.587 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000038659.4;CLNDSDB=.;CLNDSDBID=. 5.8193386 1078 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 1078 16 18810011 18810011 T A intronic ARL6IP1 NA NA NA intronic ENSG00000170540,ENSG00000260342 NA NA NA NA NA 16p12.3 NA Name=GATA-2 Name=11 NA rs17663173 0.05 0.05 0.04 0.0513179 0.0517 NA 0.0591 0.1097 0.0194 0.05 NA 0.08 0.08 0.0579 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 0.623142 NA NA 0.072093 0.093992 NA 0.007 NA 5.818307 1078 15 27184435 27184435 C T intronic GABRA5 NA NA NA exonic ENSG00000166206 NA nonsynonymous SNV ENSG00000166206:ENST00000541819:exon1:c.G149A:p.R50Q NA NA 15q12 NA NA NA NA rs12910925 0.35 0.35 0.33 0.337859 0.4592 0.3442 0.4683 0.1369 0.3855 0.46 0.33 0.42 0.13 0.4241 0.47 0.57 T 0.001 B 0.001 B 0.197 N 1.000 P . . -1.47 T -1.019 T 0.000 T 0.022 1.698 11.64 2.4 0.216 0.087 2.799 1.697804 1.697804 0.05 0.465093 0.176941 NA 0.304 NA 5.8182737 1078 1 1249187 1249187 G A exonic CPSF3L NA synonymous SNV CPSF3L:NM_001256462:exon7:c.C588T:p.F196F,CPSF3L:NM_001256463:exon7:c.C579T:p.F193F,CPSF3L:NM_017871:exon9:c.C882T:p.F294F,CPSF3L:NM_001256460:exon10:c.C795T:p.F265F,CPSF3L:NM_001256456:exon11:c.C900T:p.F300F exonic ENSG00000127054 NA nonsynonymous SNV ENSG00000127054:ENST00000528879:exon8:c.C817T:p.R273C Score=620;Name=lod=443 NA 1p36.33 NA NA Name=2 NA rs12142199 0.38 0.38 0.384 0.310104 0.8052 0.0188 0.4395 0.0651 0.3405 0.8 0.02 0.5 0.08 0.5791 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 3.925944 3.925944 NA 0.797791 0.173706 NA 0.471 NA 5.817909 1078 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 1078 1 205308335 205308335 G A exonic KLHDC8A NA synonymous SNV KLHDC8A:NM_018203:exon4:c.C744T:p.F248F,KLHDC8A:NM_001271864:exon5:c.C744T:p.F248F,KLHDC8A:NM_001271865:exon6:c.C744T:p.F248F,KLHDC8A:NM_001271863:exon7:c.C744T:p.F248F exonic ENSG00000162873 NA synonymous SNV ENSG00000162873:ENST00000606181:exon2:c.C342T:p.F114F,ENSG00000162873:ENST00000537168:exon3:c.C405T:p.F135F,ENSG00000162873:ENST00000367155:exon4:c.C744T:p.F248F,ENSG00000162873:ENST00000460687:exon4:c.C342T:p.F114F,ENSG00000162873:ENST00000539253:exon4:c.C744T:p.F248F,ENSG00000162873:ENST00000367156:exon7:c.C744T:p.F248F Score=510;Name=lod=157 NA 1q32.1 NA NA NA NA rs1105385 0.18 0.18 0.185 0.183307 0.2942 0.0317 0.1354 0.2247 0.2035 0.28 0.02 0.14 0.23 0.2516 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.375979 NA NA 0.303837 0.224013 NA 0.225 NA 5.8170296 1078 9 126132919 126132919 G A exonic CRB2 NA synonymous SNV CRB2:NM_173689:exon7:c.G1587A:p.A529A exonic ENSG00000148204 NA synonymous SNV ENSG00000148204:ENST00000373629:exon2:c.G591A:p.A197A,ENSG00000148204:ENST00000460253:exon2:c.G591A:p.A197A,ENSG00000148204:ENST00000359999:exon7:c.G1587A:p.A529A,ENSG00000148204:ENST00000373631:exon7:c.G1587A:p.A529A NA NA 9q33.3 NA Name=Rad21,CTCF NA NA rs33984675 0.21 0.21 0.225 0.197684 0.2753 0.252 0.1758 0.059 0.2648 0.27 0.27 0.19 0.06 0.2625 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046706 NA NA 0.313488 0.086927 NA 0.268 NA 5.8153786 1078 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 1079 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 1079 1 156640308 156640308 C T exonic NES NA synonymous SNV NES:NM_006617:exon4:c.G3672A:p.T1224T exonic ENSG00000132688 NA synonymous SNV ENSG00000132688:ENST00000368223:exon4:c.G3672A:p.T1224T NA NA 1q23.1 NA Name=Pol2 NA NA rs3748571 0.23 0.23 0.198 0.224241 0.3032 0.2946 0.2882 0.0159 0.3067 0.29 0.28 0.28 0.02 0.2631 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164221 NA NA 0.285465 0.063096 ID=COSM1559925;OCCURENCE=1(large_intestine) 0.138 NA 5.8149016 1079 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$MYOGNF1_01 NA NA NA rs2228069 0.6 0.6 0.609 0.545527 0.6412 0.5298 0.6599 0.5212 0.4151 0.64 0.54 0.67 0.56 0.5962 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.957711 NA NA 0.616306 0.559545 NA 0.536 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided,not_provided;CLNREVSTAT=single|not,not;CLNACC=RCV000079138.1|RCV000119602.1,RCV000119603.1;CLNDSDB=.|.,.;CLNDSDBID=.|.,. 5.8129606 1079 19 54385820 54385820 C T exonic PRKCG NA synonymous SNV PRKCG:NM_002739:exon1:c.C72T:p.A24A exonic ENSG00000126583 NA synonymous SNV ENSG00000126583:ENST00000263431:exon1:c.C72T:p.A24A,ENSG00000126583:ENST00000536044:exon1:c.C72T:p.A24A,ENSG00000126583:ENST00000540413:exon1:c.C72T:p.A24A Score=678;Name=lod=757 NA 19q13.42 Score=817;Name=V$TAXCREB_01 NA NA NA rs2547362 0.89 0.89 0.896 0.896366 0.9523 0.9881 0.9582 0.6793 0.9939 0.96 0.99 0.93 0.65 0.9463 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 1.287957 1.287957 NA 0.955233 0.7399 NA 0.297 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118063.2;CLNDSDB=.;CLNDSDBID=. 5.8128336 1079 1 232534957 232534957 T C exonic SIPA1L2 NA synonymous SNV SIPA1L2:NM_020808:exon21:c.A5085G:p.R1695R exonic ENSG00000116991 NA synonymous SNV ENSG00000116991:ENST00000308942:exon14:c.A2253G:p.R751R,ENSG00000116991:ENST00000262861:exon21:c.A5085G:p.R1695R,ENSG00000116991:ENST00000366630:exon22:c.A5085G:p.R1695R Score=551;Name=lod=231 NA 1q42.2 NA NA NA NA rs12043251 0.42 0.42 0.399 0.401558 0.2654 0.7371 0.4697 0.2564 0.3436 0.28 0.73 0.42 0.26 0.3342 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 1.450113 1.450113 NA 0.254524 0.250597 NA 0.333 NA 5.8125426 1079 2 197021372 197021372 T A exonic STK17B NA synonymous SNV STK17B:NM_004226:exon3:c.A126T:p.G42G exonic ENSG00000081320 NA synonymous SNV ENSG00000081320:ENST00000263955:exon3:c.A126T:p.G42G,ENSG00000081320:ENST00000409228:exon3:c.A126T:p.G42G,ENSG00000081320:ENST00000420683:exon4:c.A126T:p.G42G Score=605;Name=lod=385 NA 2q32.3 Score=898;Name=V$PAX4_02 NA NA NA rs12478353 0.67 0.67 0.658 0.65016 0.6243 0.9028 0.7003 0.4266 0.683 0.64 0.89 0.67 0.46 0.6387 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 1.110434 NA NA 0.591279 0.465048 NA 0.601 NA 5.8123876 1079 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 1079 2 20838318 20838318 G A exonic HS1BP3 NA synonymous SNV HS1BP3:NM_022460:exon4:c.C501T:p.F167F exonic ENSG00000118960 NA synonymous SNV ENSG00000118960:ENST00000304031:exon4:c.C501T:p.F167F,ENSG00000118960:ENST00000402541:exon4:c.C501T:p.F167F Score=374;Name=lod=44 NA 2p24.1 NA NA NA NA rs3796064 0.34 0.34 0.319 0.359026 0.2763 0.5565 0.3055 0.2292 0.454 0.27 0.58 0.29 0.2 0.316 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058684 NA NA 0.262093 0.223559 NA 0.275 NA 5.8122736 1079 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 1079 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 1079 6 105821449 105821449 A G exonic PREP NA synonymous SNV PREP:NM_002726:exon5:c.T390C:p.Y130Y exonic ENSG00000085377 NA synonymous SNV ENSG00000085377:ENST00000369110:exon5:c.T390C:p.Y130Y Score=631;Name=lod=491 NA 6q21 NA NA NA NA rs9486069 0.33 0.33 0.365 0.348043 0.2932 0.002 0.1988 0.8215 0.227 0.29 NA 0.24 0.83 0.2816 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 1.063013 NA NA 0.279767 0.735588 NA 0.435 NA 5.8120996 1079 12 990912 990912 A C exonic WNK1 NA nonsynonymous SNV WNK1:NM_014823:exon11:c.A2425C:p.T809P,WNK1:NM_001184985:exon13:c.A3946C:p.T1316P,WNK1:NM_018979:exon13:c.A3166C:p.T1056P,WNK1:NM_213655:exon13:c.A3922C:p.T1308P exonic ENSG00000060237 NA nonsynonymous SNV ENSG00000060237:ENST00000340908:exon10:c.A1945C:p.T649P,ENSG00000060237:ENST00000535572:exon11:c.A2425C:p.T809P,ENSG00000060237:ENST00000315939:exon13:c.A3166C:p.T1056P,ENSG00000060237:ENST00000537687:exon13:c.A3946C:p.T1316P,ENSG00000060237:ENST00000530271:exon15:c.A4660C:p.T1554P Score=352;Name=lod=36 NA 12p13.33 NA NA NA NA rs956868 0.85 0.85 0.841 0.852835 0.839 0.8175 0.8732 0.8631 0.8753 0.84 0.81 0.89 0.87 0.8314 0.9 0.89 T 0.0 B 0.0 B 0.041 N 0.000 P -0.805 N 2.86 T -1.004 T 0.000 T 0.256 -0.69 1.003 0.635 -0.088 0.010 1.853 -0.690381 NA 0.38 0.851279 0.855197 NA 0.826 NA 5.8116544 1079 15 90800408 90800408 C G exonic TTLL13 NA synonymous SNV TTLL13:NM_001029964:exon7:c.C744G:p.V248V exonic ENSG00000213471,ENSG00000261147 NA synonymous SNV ENSG00000261147:ENST00000561573:exon5:c.C456G:p.V152V,ENSG00000213471:ENST00000339615:exon7:c.C744G:p.V248V,ENSG00000213471:ENST00000438251:exon7:c.C744G:p.V248V Score=558;Name=lod=247 NA 15q26.1 NA NA NA NA rs2063742 0.35 0.35 0.32 0.378195 0.2644 0.6925 0.4179 0.112 0.5031 0.26 0.65 0.36 0.13 0.3305 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.244572 1.244572 NA 0.26047 0.150296 NA 0.181 NA 5.8112966 1079 1 203053741 203053741 T C intronic MYOG NA NA NA intronic ENSG00000122180 NA NA NA NA NA 1q32.1 NA Name=CTCF_(C-20),CTCF,SMC3_(ab9263),Rad21,TCF4 Name=20 NA rs112470728 0.04 0.04 0.023 0.0221645 0.0765 0.001 0.0274 0.0045 0.0082 0.08 NA 0.04 0.01 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 1.048843 NA NA 0.061977 0.01566 NA 0.08 NA 5.811223 1079 15 63937209 63937209 C G exonic HERC1 NA nonsynonymous SNV HERC1:NM_003922:exon57:c.G11166C:p.E3722D exonic ENSG00000103657 NA nonsynonymous SNV ENSG00000103657:ENST00000443617:exon57:c.G11166C:p.E3722D NA NA 15q22.31 NA NA NA NA rs2229749 0.65 0.65 0.671 0.636382 0.8956 0.1022 0.647 0.8744 0.591 0.89 0.1 0.69 0.88 0.7471 0.89 1 T 0.0 B 0.0 B 0.001 N 1.000 P 0.55 N 1.96 T -0.941 T 0.000 T 0.013 -0.82 0.625 -3.28 -0.303 -0.224 2.83 -0.819633 NA 0.66 0.880183 0.856959 ID=COSM147938;OCCURENCE=1(stomach) 0.638 NA 5.8104504 1079 1 43664218 43664218 C T exonic WDR65 NA synonymous SNV WDR65:NM_001167965:exon8:c.C1329T:p.H443H,WDR65:NM_001195831:exon8:c.C1329T:p.H443H,WDR65:NM_152498:exon8:c.C1329T:p.H443H exonic ENSG00000243710 NA synonymous SNV ENSG00000243710:ENST00000372492:exon8:c.C1329T:p.H443H,ENSG00000243710:ENST00000528956:exon8:c.C1329T:p.H443H Score=300;Name=lod=22 NA 1p34.2 NA NA NA NA rs603123 0.22 0.22 0.205 0.202077 0.3181 0.002 0.2089 0.2829 0.1748 0.34 0.0017 0.23 0.26 0.253 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.893196 NA NA 0.285581 0.250113 NA 0.355 NA 5.8099856 1079 1 41979156 41979156 A G exonic HIVEP3 NA synonymous SNV HIVEP3:NM_001127714:exon7:c.T5736C:p.A1912A,HIVEP3:NM_024503:exon8:c.T5736C:p.A1912A exonic ENSG00000127124 NA synonymous SNV ENSG00000127124:ENST00000247584:exon7:c.T5736C:p.A1912A,ENSG00000127124:ENST00000372584:exon7:c.T5736C:p.A1912A,ENSG00000127124:ENST00000429157:exon7:c.T5736C:p.A1912A,ENSG00000127124:ENST00000372583:exon8:c.T5736C:p.A1912A NA NA 1p34.2 NA Name=Rad21,CTCF,CTCF_(C-20),ZNF263 Name=6 NA rs615177 0.73 0.73 0.678 0.734425 0.5835 0.9931 0.719 0.6604 0.7342 0.59 0.99 0.71 0.65 0.6687 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 -0.901183 NA NA 0.604986 0.654304 ID=COSM426277;OCCURENCE=2(breast) 0.645 NA 5.8094806 1079 1 204438643 204438643 G T exonic PIK3C2B NA synonymous SNV PIK3C2B:NM_002646:exon3:c.C288A:p.L96L exonic ENSG00000133056 NA synonymous SNV ENSG00000133056:ENST00000415899:exon2:c.C288A:p.L96L,ENSG00000133056:ENST00000367187:exon3:c.C288A:p.L96L,ENSG00000133056:ENST00000424712:exon3:c.C288A:p.L96L Score=366;Name=lod=41 NA 1q32.1 Score=819;Name=V$SREBP1_02 NA Name=4 NA rs1553921 0.77 0.77 0.742 0.727236 0.9841 0.8194 0.8963 0.2368 0.911 0.99 0.81 0.89 0.28 0.8903 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 0.825528 NA NA 0.982907 0.372901 NA 0.71 NA 5.8093596 1079 3 129286635 129286635 G A exonic PLXND1 NA synonymous SNV PLXND1:NM_015103:exon21:c.C3879T:p.F1293F exonic ENSG00000004399 NA synonymous SNV ENSG00000004399:ENST00000324093:exon21:c.C3879T:p.F1293F,ENSG00000004399:ENST00000393239:exon21:c.C3879T:p.F1293F Score=489;Name=lod=130 NA 3q22.1 NA NA NA NA rs2245278 0.28 0.28 0.265 0.264177 0.3101 0.3869 0.1873 0.2262 0.1963 0.31 0.33 0.22 0.22 0.2653 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.937197 NA NA 0.282093 0.226963 NA 0.333 NA 5.8091736 1079 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 1079 19 17366278 17366278 T C exonic USHBP1 NA synonymous SNV USHBP1:NM_031941:exon10:c.A1608G:p.A536A exonic ENSG00000130307 NA synonymous SNV ENSG00000130307:ENST00000431146:exon9:c.A1416G:p.A472A,ENSG00000130307:ENST00000252597:exon10:c.A1608G:p.A536A NA NA 19p13.11 NA Name=USF-1,BHLHE40 Name=39 NA rs4430871 0.76 0.76 0.766 0.779353 0.5805 0.7996 0.7709 0.9766 0.7025 0.58 0.8 0.76 0.97 0.6741 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 0.499078 NA NA 0.603023 0.918974 NA 0.797 NA 5.8090436 1079 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 1079 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 1079 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 1079 15 86124968 86124968 G A exonic AKAP13 NA synonymous SNV AKAP13:NM_006738:exon7:c.G3669A:p.R1223R,AKAP13:NM_007200:exon7:c.G3669A:p.R1223R exonic ENSG00000170776 NA synonymous SNV ENSG00000170776:ENST00000361243:exon7:c.G3669A:p.R1223R,ENSG00000170776:ENST00000394518:exon7:c.G3669A:p.R1223R,ENSG00000170776:ENST00000559362:exon7:c.G3669A:p.R1223R NA NA 15q25.3 NA Name=ZNF263,Pol2 Name=33 NA rs11633087 0.58 0.58 0.588 0.575679 0.6113 0.5774 0.6153 0.5325 0.5675 0.6 0.58 0.61 0.5 0.6056 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.097522 NA NA 0.642126 0.575386 NA 0.5 NA 5.8076406 1079 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=NFKB,TAF1,HMGN3,RFX5_(N-494),GABP,Pol2-4H8,ELF1_(SC-631),HEY1,USF-1,Pol2(phosphoS2),FOSL2,USF2,Pol2,HA-E2F1,TAF7_(SQ-8),HDAC2_(SC-6296),p300,POU2F2,TBP,Pol2(b),BRCA1_(C-1863),GTF2F1_(RAP-74),ZNF263,JunD,Max,Nrf1,SP1,IRF1,Oct-2,c-Myc,SIX5,Sin3Ak-20,Mxi1_(bHLH),NRSF,PAX5-C20 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 1079 12 70928724 70928724 A G exonic PTPRB NA synonymous SNV PTPRB:NM_001206971:exon27:c.T5169C:p.D1723D,PTPRB:NM_001206972:exon27:c.T5169C:p.D1723D,PTPRB:NM_002837:exon28:c.T5439C:p.D1813D,PTPRB:NM_001109754:exon30:c.T6093C:p.D2031D exonic ENSG00000127329 NA synonymous SNV ENSG00000127329:ENST00000451516:exon27:c.T5169C:p.D1723D,ENSG00000127329:ENST00000538708:exon27:c.T5169C:p.D1723D,ENSG00000127329:ENST00000550857:exon27:c.T5169C:p.D1723D,ENSG00000127329:ENST00000261266:exon28:c.T5439C:p.D1813D,ENSG00000127329:ENST00000550358:exon29:c.T5829C:p.D1943D,ENSG00000127329:ENST00000334414:exon30:c.T6093C:p.D2031D Score=532;Name=lod=194 NA 12q15 Score=855;Name=V$PAX3_01 NA NA Score=72;Name=555486_0_-_72 rs582954 0.97 0.97 0.973 0.980032 0.9423 0.999 0.9611 0.9992 0.9867 0.94 1 0.95 1 0.9668 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.856103 NA NA 0.95006 0.988033 NA 0.964 NA 5.8075066 1079 12 62778065 62778065 A G exonic USP15 NA synonymous SNV USP15:NM_006313:exon10:c.A1368G:p.P456P,USP15:NM_001252078:exon11:c.A1455G:p.P485P exonic ENSG00000135655 NA synonymous SNV ENSG00000135655:ENST00000353364:exon10:c.A1368G:p.P456P,ENSG00000135655:ENST00000393654:exon10:c.A1380G:p.P460P,ENSG00000135655:ENST00000280377:exon11:c.A1455G:p.P485P Score=753;Name=lod=1533 NA 12q14.1 Score=896;Name=V$CEBPB_01 NA NA NA rs2044846 0.59 0.59 0.583 0.560304 0.6332 0.5813 0.5634 0.5212 0.5143 0.63 0.6 0.58 0.53 0.6018 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.521732 NA NA 0.624331 0.534044 NA 0.674 NA 5.8073356 1079 7 150704250 150704250 C G exonic NOS3 NA synonymous SNV NOS3:NM_000603:exon17:c.C1998G:p.A666A exonic ENSG00000164867 NA synonymous SNV ENSG00000164867:ENST00000461406:exon14:c.C1380G:p.A460A,ENSG00000164867:ENST00000297494:exon17:c.C1998G:p.A666A Score=641;Name=lod=538 NA 7q36.1 NA NA NA NA rs2566514 0.42 0.42 0.382 0.43131 0.2694 0.3909 0.5043 0.5635 0.409 0.27 0.46 0.49 0.57 0.3414 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.362355 1.362355 NA 0.248605 0.498184 NA 0.428 NA 5.8072616 1079 6 167753691 167753691 C T exonic TTLL2 NA synonymous SNV TTLL2:NM_031949:exon3:c.C303T:p.S101S exonic ENSG00000120440 NA synonymous SNV ENSG00000120440:ENST00000239587:exon3:c.C303T:p.S101S,ENSG00000120440:ENST00000515138:exon3:c.C303T:p.S101S NA NA 6q27 Score=896;Name=V$GRE_C NA NA NA rs877653 0.31 0.31 0.271 0.309904 0.2664 0.5079 0.2824 0.1679 0.362 0.28 0.49 0.29 0.15 0.2985 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.852152 NA NA 0.295 0.190649 NA 0.254 NA 5.8067666 1079 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 1079 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,USF2,USF-1,Max,TCF4,eGFP-JunD,c-Fos,eGFP-FOS,JunD 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 1079 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 1079 16 14041958 14041958 T C exonic ERCC4 NA synonymous SNV ERCC4:NM_005236:exon11:c.T2505C:p.S835S exonic ENSG00000175595 NA synonymous SNV ENSG00000175595:ENST00000311895:exon11:c.T2505C:p.S835S NA NA 16p13.12 NA NA NA NA rs1799801 0.23 0.23 0.23 0.241214 0.2942 0.2589 0.2104 0.1694 0.2873 0.26 0.25 0.2 0.16 0.2723 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659719 NA NA 0.293953 0.173418 NA 0.283 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116988.2;CLNDSDB=.;CLNDSDBID=. 5.8062136 1079 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$ISRE_01 NA NA NA rs1055055 0.52 0.52 0.532 0.489417 0.6441 0.3433 0.5173 0.5197 0.4202 0.64 0.37 0.57 0.48 0.58 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.498279 NA NA 0.636512 0.536541 ID=COSM146486;OCCURENCE=1(stomach) 0.529 NA 5.8060546 1079 1 179520506 179520506 G A exonic NPHS2 NA synonymous SNV NPHS2:NM_014625:exon8:c.C954T:p.A318A exonic ENSG00000116218 NA synonymous SNV ENSG00000116218:ENST00000367616:exon7:c.C750T:p.A250A,ENSG00000116218:ENST00000367615:exon8:c.C954T:p.A318A NA NA 1q25.2 NA Name=PAX5-C20,eGFP-JunD,c-Fos,AP-2gamma,EBF Name=94 NA rs1410592 0.57 0.57 0.551 0.58766 0.6153 0.4911 0.634 0.5946 0.6166 0.6 0.52 0.68 0.52 0.6192 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.790284 NA NA 0.626163 0.599637 ID=COSM146700;OCCURENCE=1(stomach) 0.63 NA 5.8060036 1079 10 103991381 103991381 G A exonic PITX3 NA synonymous SNV PITX3:NM_005029:exon3:c.C285T:p.I95I exonic ENSG00000107859 NA synonymous SNV ENSG00000107859:ENST00000539804:exon2:c.C285T:p.I95I,ENSG00000107859:ENST00000370002:exon3:c.C285T:p.I95I Score=533;Name=lod=196 NA 10q24.32 NA NA Name=11 NA rs2281983 0.69 0.69 0.692 0.664137 0.5974 0.7718 0.6254 0.7753 0.499 0.61 0.76 0.61 0.77 0.647 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.787146 1.787146 NA 0.616395 0.754653 NA 0.543 NA 5.8058716 1079 22 46652959 46652959 A G exonic PKDREJ NA synonymous SNV PKDREJ:NM_006071:exon1:c.T6261C:p.P2087P exonic ENSG00000130943 NA synonymous SNV ENSG00000130943:ENST00000253255:exon1:c.T6261C:p.P2087P NA NA 22q13.31 Score=845;Name=V$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 1079 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 1079 15 90794102 90794102 G A exonic TTLL13 NA synonymous SNV TTLL13:NM_001029964:exon2:c.G240A:p.K80K exonic ENSG00000213471,ENSG00000261147 NA synonymous SNV ENSG00000213471:ENST00000339615:exon2:c.G240A:p.K80K,ENSG00000213471:ENST00000438251:exon2:c.G240A:p.K80K,ENSG00000261147:ENST00000561573:exon2:c.G240A:p.K80K Score=426;Name=lod=72 NA 15q26.1 NA NA NA NA rs4932171 0.37 0.37 0.345 0.39996 0.2654 0.6885 0.428 0.1982 0.4939 0.26 0.64 0.38 0.2 0.3359 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610343 NA NA 0.259832 0.206003 NA 0.217 NA 5.8055346 1079 7 940181 940181 C T exonic ADAP1 NA nonsynonymous SNV ADAP1:NM_006869:exon7:c.G721A:p.G241S exonic ENSG00000105963 NA nonsynonymous SNV ENSG00000105963:ENST00000453175:exon4:c.G334A:p.G112S,ENSG00000105963:ENST00000449296:exon6:c.G505A:p.G169S,ENSG00000105963:ENST00000265846:exon7:c.G721A:p.G241S,ENSG00000105963:ENST00000539900:exon7:c.G754A:p.G252S NA NA 7p22.3 NA NA NA NA rs10256887 0.87 0.87 0.895 0.867013 0.828 0.8988 0.8069 0.9539 0.7996 0.84 0.87 0.83 0.96 0.8529 0.96 1 T 0.0 B 0.0 B 0.002 N 1.000 P -2.25 N 2.0 T -0.990 T 0.000 T 0.275 -1.69 0.012 4.47 0.564 0.460 5.283 -1.689529 NA 1 0.846996 0.932574 NA 0.891 NA 5.8054374 1080 X 100911066 100911066 C T exonic ARMCX2 NA synonymous SNV ARMCX2:NM_014782:exon5:c.G1509A:p.Q503Q,ARMCX2:NM_177949:exon6:c.G1509A:p.Q503Q exonic ENSG00000184867 NA synonymous SNV ENSG00000184867:ENST00000330154:exon3:c.G1509A:p.Q503Q,ENSG00000184867:ENST00000328766:exon5:c.G1509A:p.Q503Q,ENSG00000184867:ENST00000356824:exon6:c.G1509A:p.Q503Q Score=696;Name=lod=898 NA Xq22.1 Score=916;Name=V$MYOD_01,V$LMO2COM_01 NA NA NA rs3850315 0.96 0.96 NA NA NA NA NA NA NA 0.91 1 0.95 0.99 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 -0.296624 NA NA 0.919144 0.983833 NA 0.746 NA 5.8049226 1080 6 42627430 42627430 C T exonic UBR2 NA synonymous SNV UBR2:NM_015255:exon30:c.C3279T:p.G1093G exonic ENSG00000024048 NA synonymous SNV ENSG00000024048:ENST00000372899:exon30:c.C3279T:p.G1093G,ENSG00000024048:ENST00000372901:exon30:c.C3279T:p.G1093G Score=455;Name=lod=94 NA 6p21.1 NA NA NA NA rs6916713 0.28 0.28 0.282 0.252596 0.2972 0.3026 0.1988 0.2042 0.2587 0.31 0.32 0.24 0.2 0.2762 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.110531 NA NA 0.288837 0.215388 NA 0.261 NA 5.8044296 1080 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 1080 9 135102254 135102254 C T exonic NTNG2 NA synonymous SNV NTNG2:NM_032536:exon4:c.C876T:p.H292H exonic ENSG00000196358 NA synonymous SNV ENSG00000196358:ENST00000360670:exon4:c.C876T:p.H292H,ENSG00000196358:ENST00000372179:exon4:c.C876T:p.H292H,ENSG00000196358:ENST00000393228:exon4:c.C876T:p.H292H,ENSG00000196358:ENST00000393229:exon4:c.C876T:p.H292H Score=564;Name=lod=262 NA 9q34.13 Score=830;Name=V$AHRARNT_01 NA NA NA rs2149171 0.56 0.56 0.579 0.57488 0.6243 0.4306 0.5879 0.5779 0.6595 0.62 0.42 0.57 0.61 0.6184 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344256 NA NA 0.620233 0.569678 NA 0.551 NA 5.8037336 1080 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 1080 9 128074807 128074807 T C exonic GAPVD1 NA synonymous SNV GAPVD1:NM_015635:exon7:c.T1518C:p.I506I exonic ENSG00000165219 NA synonymous SNV ENSG00000165219:ENST00000312123:exon6:c.T1518C:p.I506I,ENSG00000165219:ENST00000265956:exon7:c.T1518C:p.I506I,ENSG00000165219:ENST00000394083:exon7:c.T1518C:p.I506I,ENSG00000165219:ENST00000394104:exon7:c.T1518C:p.I506I,ENSG00000165219:ENST00000394105:exon7:c.T1518C:p.I506I,ENSG00000165219:ENST00000470056:exon7:c.T1518C:p.I506I,ENSG00000165219:ENST00000497580:exon7:c.T1518C:p.I506I,ENSG00000165219:ENST00000467750:exon8:c.T1518C:p.I506I,ENSG00000165219:ENST00000297933:exon9:c.T1518C:p.I506I,ENSG00000165219:ENST00000495955:exon9:c.T1518C:p.I506I Score=693;Name=lod=872 NA 9q33.3 NA NA NA NA rs432757 0.97 0.97 0.978 0.98143 0.9543 1 0.9582 0.9939 0.9898 0.95 1 0.94 0.99 0.9664 1 . . . . . . . . 0.000 P . . . . -1.011 T 0.000 T . 1.263 10.12 2.55 0.399 -0.054 10.304 1.262527 1.262527 NA 0.94314 0.989787 NA 0.957 NA 5.8028266 1080 11 92531356 92531356 A G exonic FAT3 NA nonsynonymous SNV FAT3:NM_001008781:exon9:c.A5177G:p.Q1726R exonic ENSG00000165323 NA nonsynonymous SNV ENSG00000165323:ENST00000298047:exon9:c.A5177G:p.Q1726R,ENSG00000165323:ENST00000409404:exon9:c.A5177G:p.Q1726R,ENSG00000165323:ENST00000525166:exon9:c.A4727G:p.Q1576R NA NA 11q14.3 NA NA NA NA rs7949157 0.79 0.79 0.764 0.769768 0.8598 0.755 0.8516 0.649 0.7975 0.87 0.78 0.86 0.65 0.823 0.87 0.53 T 0.0 B 0.001 B . . 1.000 P 0.475 N 0.75 T -1.004 T 0.000 T 0.051 0.362 5.962 0.257 -0.055 2.275 10.071 0.361503 NA 0.52 0.847722 0.693557 NA 0.812 NA 5.8028114 1080 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 1080 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 1080 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 1080 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 1080 20 17943492 17943492 A T ncRNA_exonic SNORD17 NA NA NA ncRNA_exonic ENSG00000212232 NA NA NA NA NA 20p11.23 NA Name=Pol2,Pol2-4H8,EBF,PU.1 Name=121 NA rs753213 0.26 0.26 0.239 0.285543 0.2644 0.4375 0.2277 0.0734 0.4785 0.28 0.45 0.21 0.07 0.3123 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.643783 NA NA 0.287544 0.130137 NA 0.109 NA 5.8024226 1080 5 112164561 112164561 G A exonic APC NA synonymous SNV APC:NM_001127511:exon12:c.G1581A:p.A527A,APC:NM_000038:exon14:c.G1635A:p.A545A,APC:NM_001127510:exon15:c.G1635A:p.A545A exonic ENSG00000134982,ENSG00000258864 NA synonymous SNV ENSG00000134982:ENST00000504915:exon5:c.G324A:p.A108A,ENSG00000134982:ENST00000507379:exon12:c.G1581A:p.A527A,ENSG00000134982:ENST00000257430:exon14:c.G1635A:p.A545A,ENSG00000134982:ENST00000457016:exon14:c.G1635A:p.A545A,ENSG00000134982:ENST00000512211:exon14:c.G1635A:p.A545A,ENSG00000134982:ENST00000508376:exon15:c.G1635A:p.A545A Score=618;Name=lod=432 NA 5q22.2 NA NA NA NA rs351771 0.66 0.66 0.645 0.666134 0.5994 0.8165 0.7161 0.5166 0.7464 0.61 0.81 0.71 0.53 0.6481 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 1.260983 1.260983 NA 0.61686 0.527021 NA 0.623 CLINSIG=non-pathogenic|other;CLNDBN=not_specified|Familial_colorectal_cancer;CLNREVSTAT=mult|single;CLNACC=RCV000035066.2|RCV000074153.1;CLNDSDB=.|MedGen:OMIM;CLNDSDBID=.|CN029768:114500 5.8023066 1080 16 76587331 76587331 T C exonic CNTNAP4 NA synonymous SNV CNTNAP4:NM_138994:exon21:c.T3375C:p.T1125T exonic ENSG00000152910,ENSG00000261833 NA synonymous SNV ENSG00000261833:ENST00000563764:exon1:c.T18C:p.T6T,ENSG00000152910:ENST00000476707:exon21:c.T3603C:p.T1201T,ENSG00000152910:ENST00000478060:exon21:c.T3375C:p.T1125T,ENSG00000152910:ENST00000377504:exon22:c.T3447C:p.T1149T,ENSG00000152910:ENST00000307431:exon23:c.T3591C:p.T1197T NA NA 16q23.1 Score=904;Name=V$AP1_Q4 NA NA NA rs7184958 0.28 0.28 0.296 0.300719 0.2773 0.2867 0.1945 0.3449 0.3548 0.28 0.29 0.21 0.33 0.3062 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.792449 NA NA 0.281058 0.335691 NA 0.341 NA 5.8021086 1080 5 112175770 112175770 G A exonic APC NA synonymous SNV APC:NM_001127511:exon14:c.G4425A:p.T1475T,APC:NM_000038:exon16:c.G4479A:p.T1493T,APC:NM_001127510:exon17:c.G4479A:p.T1493T exonic ENSG00000134982 NA synonymous SNV ENSG00000134982:ENST00000257430:exon16:c.G4479A:p.T1493T,ENSG00000134982:ENST00000457016:exon16:c.G4479A:p.T1493T,ENSG00000134982:ENST00000508376:exon17:c.G4479A:p.T1493T Score=605;Name=lod=383 NA 5q22.2 NA NA NA NA rs41115 0.66 0.66 0.65 0.665535 0.5994 0.8165 0.7161 0.5174 0.7423 0.61 0.81 0.71 0.53 0.6486 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 -0.116081 NA NA 0.616744 0.526579 NA 0.623 CLINSIG=non-pathogenic|other;CLNDBN=not_specified|Familial_colorectal_cancer;CLNREVSTAT=mult|single;CLNACC=RCV000035071.2|RCV000074234.1;CLNDSDB=.|MedGen:OMIM;CLNDSDBID=.|CN029768:114500 5.8019226 1080 2 177034121 177034121 G T exonic HOXD3 NA synonymous SNV HOXD3:NM_006898:exon2:c.G279T:p.P93P exonic ENSG00000128652 NA synonymous SNV ENSG00000128652:ENST00000249440:exon2:c.G279T:p.P93P,ENSG00000128652:ENST00000410016:exon2:c.G279T:p.P93P,ENSG00000128652:ENST00000432796:exon2:c.G279T:p.P93P,ENSG00000128652:ENST00000468418:exon3:c.G279T:p.P93P Score=559;Name=lod=249 NA 2q31.1 NA NA NA NA rs34729309 0.19 0.19 0.204 0.18131 0.3072 0.0218 0.183 0.2042 0.184 0.3 0.02 0.2 0.23 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 0.878781 NA NA 0.308837 0.220835 NA 0.304 NA 5.8018296 1080 14 23299286 23299286 T C exonic MRPL52 NA nonsynonymous SNV MRPL52:NM_178336:exon2:c.T56C:p.V19A,MRPL52:NM_180982:exon2:c.T53C:p.V18A,MRPL52:NM_181307:exon2:c.T56C:p.V19A exonic ENSG00000172590 NA nonsynonymous SNV ENSG00000172590:ENST00000355151:exon2:c.T56C:p.V19A,ENSG00000172590:ENST00000397496:exon2:c.T53C:p.V18A,ENSG00000172590:ENST00000397505:exon2:c.T56C:p.V19A,ENSG00000172590:ENST00000432849:exon2:c.T53C:p.V18A,ENSG00000172590:ENST00000556465:exon2:c.T53C:p.V18A NA NA 14q11.2 NA Name=ZNF263,ELK4,STAT1,NFKB,CTCF,Pol2 NA NA rs4982685 0.88 0.88 0.881 0.867612 0.84 0.998 0.866 0.8336 0.8088 0.83 0.99 0.88 0.85 0.852 0.99 0.94 T 0.0 B 0.0 B 0.933 N 1.000 P -0.55 N 1.71 T -1.003 T 0.000 T 0.454 -1.411 0.022 -0.46 -0.143 -0.341 4.686 -1.411479 NA 0.79 0.839614 0.827962 NA 0.63 NA 5.8017194 1080 11 121456962 121456962 C T exonic SORL1 NA synonymous SNV SORL1:NM_003105:exon27:c.C3738T:p.N1246N exonic ENSG00000137642 NA synonymous SNV ENSG00000137642:ENST00000532694:exon4:c.C276T:p.N92N,ENSG00000137642:ENST00000534286:exon4:c.C468T:p.N156N,ENSG00000137642:ENST00000525532:exon7:c.C570T:p.N190N,ENSG00000137642:ENST00000260197:exon27:c.C3738T:p.N1246N Score=433;Name=lod=77 NA 11q24.1 Score=961;Name=V$AREB6_04 NA NA NA rs1699102 0.45 0.45 0.483 0.407348 0.668 0.1379 0.415 0.4834 0.3088 0.66 0.14 0.52 0.46 0.531 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.057663 NA NA 0.666434 0.492964 NA 0.522 NA 5.8012326 1080 6 62887099 62887099 C T exonic KHDRBS2 NA synonymous SNV KHDRBS2:NM_152688:exon2:c.G210A:p.Q70Q exonic ENSG00000112232 NA synonymous SNV ENSG00000112232:ENST00000281156:exon2:c.G210A:p.Q70Q Score=680;Name=lod=770 NA 6q11.1 Score=804;Name=V$HNF1_C NA NA NA rs6921170 0.6 0.6 0.616 0.592452 0.6571 0.5923 0.4798 0.6256 0.5613 0.66 0.57 0.52 0.59 0.5928 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 -0.802018 NA NA 0.615868 0.623978 NA 0.667 NA 5.8008986 1080 8 59329438 59329438 A G exonic UBXN2B NA synonymous SNV UBXN2B:NM_001077619:exon2:c.A114G:p.E38E exonic ENSG00000215114 NA synonymous SNV ENSG00000215114:ENST00000399598:exon2:c.A114G:p.E38E,ENSG00000215114:ENST00000520732:exon2:c.A114G:p.E38E,ENSG00000215114:ENST00000523409:exon2:c.A114G:p.E38E Score=499;Name=lod=142 NA 8q12.1 NA NA NA NA rs13277646 0.28 0.28 0.233 0.257987 0.2853 0.2411 0.513 0.1369 0.2301 0.3 0.24 0.48 0.15 0.2937 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.336747 1.336747 NA 0.287039 0.185037 NA 0.188 NA 5.8006276 1080 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 1080 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 1080 15 74328116 74328116 A G exonic PML NA nonsynonymous SNV PML:NM_033250:exon7:c.A2170G:p.S724G,PML:NM_033239:exon8:c.A2314G:p.S772G exonic ENSG00000140464 NA nonsynonymous SNV ENSG00000140464:ENST00000354026:exon7:c.A2170G:p.S724G,ENSG00000140464:ENST00000268059:exon8:c.A2314G:p.S772G NA NA 15q24.1 NA NA NA NA rs743580 0.55 0.55 0.565 0.551917 0.5189 0.6379 0.5346 0.5272 0.5429 0.53 0.65 0.49 0.5 0.5226 0.65 1 T 0.0 B 0.0 B . . 1.000 P . . . . -0.930 T 0.000 T 0.015 -1.858 0.009 0.623 -0.085 0.137 2.442 -1.857524 NA 1 0.492553 0.511829 NA 0.377 NA 5.7992804 1080 3 45817418 45817418 A G exonic SLC6A20 NA synonymous SNV SLC6A20:NM_020208:exon4:c.T417C:p.C139C,SLC6A20:NM_022405:exon4:c.T417C:p.C139C exonic ENSG00000163817 NA synonymous SNV ENSG00000163817:ENST00000413781:exon3:c.T276C:p.C92C,ENSG00000163817:ENST00000353278:exon4:c.T417C:p.C139C,ENSG00000163817:ENST00000358525:exon4:c.T417C:p.C139C,ENSG00000163817:ENST00000456124:exon4:c.T417C:p.C139C Score=422;Name=lod=69 Name=Immune reponse to smallpox (secreted TNF-alpha) 3p21.31 Score=859;Name=V$P300_01 NA NA NA rs758386 0.95 0.95 0.948 0.948882 0.9543 0.9107 0.9769 0.972 0.9315 0.96 0.92 0.98 0.94 0.9565 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.301572 NA NA 0.95686 0.971176 NA 0.862 NA 5.7990066 1080 20 45204266 45204266 G A exonic SLC13A3 NA synonymous SNV SLC13A3:NM_001193339:exon9:c.C1128T:p.P376P,SLC13A3:NM_001193340:exon10:c.C1032T:p.P344P,SLC13A3:NM_001193342:exon10:c.C984T:p.P328P,SLC13A3:NM_022829:exon10:c.C1278T:p.P426P,SLC13A3:NM_001011554:exon11:c.C1137T:p.P379P exonic ENSG00000158296 NA synonymous SNV ENSG00000158296:ENST00000396360:exon9:c.C1032T:p.P344P,ENSG00000158296:ENST00000413164:exon9:c.C1128T:p.P376P,ENSG00000158296:ENST00000472148:exon9:c.C1032T:p.P344P,ENSG00000158296:ENST00000495082:exon9:c.C1137T:p.P379P,ENSG00000158296:ENST00000279027:exon10:c.C1278T:p.P426P,ENSG00000158296:ENST00000290317:exon10:c.C1137T:p.P379P,ENSG00000158296:ENST00000468915:exon12:c.C1137T:p.P379P Score=491;Name=lod=132 NA 20q13.12 Score=809;Name=V$ER_Q6 NA NA NA rs1880898 0.57 0.57 0.57 0.553914 0.6093 0.5625 0.5692 0.4796 0.5777 0.62 0.59 0.59 0.46 0.6221 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.282054 1.282054 NA 0.636512 0.495461 NA 0.471 NA 5.7987546 1080 11 26692742 26692742 G A exonic SLC5A12 NA synonymous SNV SLC5A12:NM_178498:exon15:c.C1764T:p.N588N exonic ENSG00000148942 NA synonymous SNV ENSG00000148942:ENST00000396005:exon15:c.C1764T:p.N588N Score=369;Name=lod=42 NA 11p14.2 NA NA NA NA rs7128823 0.33 0.33 0.325 0.316294 0.3151 0.4722 0.2219 0.2776 0.2761 0.31 0.43 0.27 0.28 0.281 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.093855 NA NA 0.271853 0.261518 NA 0.217 NA 5.7987136 1080 4 3417845 3417845 G C exonic RGS12 NA synonymous SNV RGS12:NM_198227:exon5:c.G480C:p.L160L,RGS12:NM_002926:exon7:c.G2424C:p.L808L,RGS12:NM_198229:exon7:c.G2424C:p.L808L exonic ENSG00000159788 NA synonymous SNV ENSG00000159788:ENST00000538395:exon4:c.G450C:p.L150L,ENSG00000159788:ENST00000338806:exon5:c.G480C:p.L160L,ENSG00000159788:ENST00000306648:exon6:c.G618C:p.L206L,ENSG00000159788:ENST00000382788:exon6:c.G2424C:p.L808L,ENSG00000159788:ENST00000336727:exon7:c.G2424C:p.L808L,ENSG00000159788:ENST00000344733:exon7:c.G2424C:p.L808L NA NA 4p16.3 Score=758;Name=V$STAT5A_02 NA NA NA rs3213507 0.38 0.38 0.361 0.375599 0.2714 0.4851 0.4323 0.4395 0.2434 0.27 0.48 0.43 0.38 0.3164 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.734916 NA NA 0.280465 0.374489 NA 0.377 NA 5.7984016 1080 17 45369777 45369777 A G exonic ITGB3 NA synonymous SNV ITGB3:NM_000212:exon10:c.A1533G:p.E511E exonic ENSG00000259207,ENSG00000259753 NA synonymous SNV ENSG00000259207:ENST00000435993:exon10:c.A1392G:p.E464E,ENSG00000259207:ENST00000559488:exon10:c.A1533G:p.E511E Score=491;Name=lod=132 NA 17q21.32 NA NA NA NA rs4642 0.29 0.29 0.302 0.28734 0.2903 0.3313 0.268 0.2564 0.2945 0.3 0.31 0.25 0.32 0.2871 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.760222 NA NA 0.291395 0.269405 ID=COSM1383909,COSM1383908;OCCURENCE=1(large_intestine) 0.283 NA 5.7978716 1080 17 45369789 45369789 G A exonic ITGB3 NA synonymous SNV ITGB3:NM_000212:exon10:c.G1545A:p.R515R exonic ENSG00000259207,ENSG00000259753 NA synonymous SNV ENSG00000259207:ENST00000435993:exon10:c.G1404A:p.R468R,ENSG00000259207:ENST00000559488:exon10:c.G1545A:p.R515R Score=491;Name=lod=132 NA 17q21.32 NA NA NA NA rs4634 0.29 0.29 0.297 0.28734 0.2903 0.3313 0.268 0.2564 0.2945 0.3 0.31 0.25 0.32 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 0.889695 NA NA 0.291279 0.269405 ID=COSM1383913,COSM1383912;OCCURENCE=1(large_intestine) 0.275 NA 5.7977876 1080 19 10679240 10679240 C G exonic CDKN2D NA synonymous SNV CDKN2D:NM_001800:exon1:c.G90C:p.R30R,CDKN2D:NM_079421:exon2:c.G90C:p.R30R exonic ENSG00000129355 NA synonymous SNV ENSG00000129355:ENST00000393599:exon1:c.G90C:p.R30R,ENSG00000129355:ENST00000335766:exon2:c.G90C:p.R30R Score=633;Name=lod=497 NA 19p13.2 NA Name=Sin3Ak-20,Max,c-Myc,ZBTB7A_(SC-34508),E2F6_(H-50),CTCF,ETS1,ZEB1_(SC-25388) Name=24 NA rs1968445 0.97 0.97 0.97 0.972444 0.9543 0.997 0.9582 0.9985 0.9407 0.95 1 0.95 0.99 0.9601 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.15253 2.15253 NA 0.954919 0.986091 NA 0.768 NA 5.7973476 1080 9 95284873 95284873 A G exonic ECM2 NA synonymous SNV ECM2:NM_001197295:exon2:c.T276C:p.S92S,ECM2:NM_001197296:exon2:c.T276C:p.S92S,ECM2:NM_001393:exon2:c.T276C:p.S92S exonic ENSG00000106823 NA synonymous SNV ENSG00000106823:ENST00000344604:exon2:c.T276C:p.S92S,ENSG00000106823:ENST00000375540:exon2:c.T276C:p.S92S,ENSG00000106823:ENST00000444490:exon2:c.T276C:p.S92S,ENSG00000106823:ENST00000395534:exon3:c.T276C:p.S92S Score=460;Name=lod=99 NA 9q22.31 NA NA NA NA rs9299405 0.33 0.33 0.345 0.335463 0.2932 0.0903 0.2435 0.7564 0.1278 0.27 0.1 0.26 0.74 0.286 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.93619 NA NA 0.290465 0.661217 ID=COSM150633;OCCURENCE=1(stomach) 0.37 NA 5.7970016 1080 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 1080 20 21142813 21142813 T C exonic PLK1S1 NA unknown UNKNOWN ncRNA_exonic ENSG00000088970 NA NA NA Score=610;Name=lod=400 NA 20p11.23 Score=737;Name=V$MYOGNF1_01 NA Name=11 NA rs2236178 0.63 0.63 0.632 0.664337 0.67 0.5694 0.6182 0.6551 0.8016 0.68 0.54 0.62 0.66 0.6789 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.160709 2.160709 1 0.687485 0.675127 NA 0.688 NA 5.7969483 1080 11 64023971 64023971 G A exonic PLCB3 NA synonymous SNV PLCB3:NM_001184883:exon7:c.G621A:p.L207L,PLCB3:NM_000932:exon9:c.G822A:p.L274L exonic ENSG00000149782 NA synonymous SNV ENSG00000149782:ENST00000325234:exon7:c.G621A:p.L207L,ENSG00000149782:ENST00000279230:exon9:c.G822A:p.L274L,ENSG00000149782:ENST00000540288:exon9:c.G822A:p.L274L Score=602;Name=lod=374 NA 11q13.1 NA NA NA NA rs7943988 0.17 0.17 0.171 0.170527 0.2982 0.129 0.1441 0.0227 0.3006 0.29 0.12 0.18 0.04 0.2567 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.32612 1.32612 NA 0.314987 0.060654 NA 0.246 NA 5.7967796 1080 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 1080 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=MafF_(M8194),MafK_(ab50322) 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 1080 2 234750542 234750542 G C exonic HJURP NA nonsynonymous SNV HJURP:NM_018410:exon8:c.C884G:p.S295C exonic ENSG00000123485 NA nonsynonymous SNV ENSG00000123485:ENST00000414924:exon5:c.C629G:p.S210C,ENSG00000123485:ENST00000441687:exon5:c.C629G:p.S210C,ENSG00000123485:ENST00000432087:exon6:c.C722G:p.S241C,ENSG00000123485:ENST00000454020:exon7:c.C761G:p.S254C,ENSG00000123485:ENST00000411486:exon8:c.C884G:p.S295C NA NA 2q37.1 NA NA NA NA rs3732215 0.41 0.41 0.371 0.349641 0.5368 0.374 0.5202 0.1044 0.3425 0.56 0.38 0.5 0.13 0.4694 0.56 0.1 T 0.0 B 0.005 B 0.385 N 1.000 P 1.67 L 0.73 T -0.905 T 0.000 T 0.357 0.851 8.441 -0.842 -0.172 0.044 4.972 0.850749 NA 0.05 0.531395 0.165456 ID=COSM1178465;OCCURENCE=1(prostate) 0.507 NA 5.7957384 1080 2 100218080 100218080 G A exonic AFF3 NA synonymous SNV AFF3:NM_001025108:exon13:c.C1263T:p.A421A,AFF3:NM_002285:exon13:c.C1188T:p.A396A exonic ENSG00000144218 NA synonymous SNV ENSG00000144218:ENST00000409236:exon12:c.C1188T:p.A396A,ENSG00000144218:ENST00000317233:exon13:c.C1188T:p.A396A,ENSG00000144218:ENST00000356421:exon13:c.C1263T:p.A421A,ENSG00000144218:ENST00000409579:exon14:c.C1263T:p.A421A NA NA 2q11.2 NA NA Name=21 NA rs4851214 0.25 0.25 0.238 0.239816 0.2932 0.4038 0.2291 0.0129 0.3303 0.29 0.41 0.23 0.03 0.3073 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.541139 NA NA 0.270478 0.056418 NA 0.203 NA 5.7956886 1080 2 233757697 233757697 A G exonic NGEF NA synonymous SNV NGEF:NM_001114090:exon5:c.T777C:p.I259I,NGEF:NM_019850:exon7:c.T1053C:p.I351I exonic ENSG00000066248 NA synonymous SNV ENSG00000066248:ENST00000416114:exon3:c.T222C:p.I74I,ENSG00000066248:ENST00000458735:exon3:c.T222C:p.I74I,ENSG00000066248:ENST00000539537:exon3:c.T222C:p.I74I,ENSG00000066248:ENST00000373552:exon5:c.T777C:p.I259I,ENSG00000066248:ENST00000264051:exon7:c.T1053C:p.I351I Score=473;Name=lod=112 NA 2q37.1 NA NA NA NA rs895432 0.96 0.96 0.962 0.941494 0.9652 0.87 0.9496 0.9955 0.9121 0.97 0.92 0.95 0.99 0.9495 0.99 . . . . . . . . 0.000 P . . . . -1.012 T 0.000 T . 0.391 6.121 3.35 0.588 0.365 7.402 0.390507 NA NA 0.956512 0.987744 NA 0.986 NA 5.7954546 1080 X 153278829 153278829 G A exonic IRAK1 NA nonsynonymous SNV IRAK1:NM_001025243:exon11:c.C1358T:p.S453L,IRAK1:NM_001569:exon12:c.C1595T:p.S532L exonic ENSG00000184216 NA nonsynonymous SNV ENSG00000184216:ENST00000369974:exon11:c.C1358T:p.S453L,ENSG00000184216:ENST00000369980:exon12:c.C1595T:p.S532L NA NA Xq28 NA NA NA NA rs1059703 0.57 0.57 0.61685 NA NA NA NA NA NA 0.8 0.2 0.58 0.64 0.6852 0.85 0.38 T 0.0 B 0.0 B 0.046 N 1.000 P 0 N -0.71 T -0.950 T 0.000 T 0.192 0.927 8.776 -0.873 -0.378 -0.171 1.751 0.927074 NA 0.15 0.852795 0.651671 NA 0.493 NA 5.7953384 1080 14 105414238 105414238 C A exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.G7550T:p.G2517V exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.G7550T:p.G2517V NA NA 14q32.33 NA NA NA NA rs60754080 0.39 0.39 0.421 0.480232 0.5099 0.3194 0.3804 0.5779 0.5542 0.44 0.28 0.36 0.47 0.5029 0.61 0.33 T 0.0 B 0.0 B . . 1.000 P -2.685 N 4.45 T -1.055 T 0.000 T 0.07 -1.527 0.016 0.322 -0.362 0.177 4.520 -1.52723 NA 0.53 0.525298 0.605497 NA 0.558 NA 5.7952354 1081 1 226923938 226923938 A C exonic ITPKB NA nonsynonymous SNV ITPKB:NM_002221:exon2:c.T1222G:p.S408A exonic ENSG00000143772 NA nonsynonymous SNV ENSG00000143772:ENST00000272117:exon1:c.T1222G:p.S408A,ENSG00000143772:ENST00000366784:exon2:c.T1222G:p.S408A,ENSG00000143772:ENST00000429204:exon2:c.T1222G:p.S408A NA NA 1q42.12 NA NA NA NA rs6667260 0.6 0.6 0.604 0.610423 0.5258 0.6786 0.6599 0.6067 0.5971 0.54 0.68 0.63 0.57 0.5305 0.71 1 T 0.0 B 0.0 B 0.983 N 1.000 P -0.695 N 2.07 T -0.944 T 0.000 T 0.028 -1.112 0.132 1.01 -0.121 0.079 3.041 -1.111789 NA 1 0.482205 0.576888 ID=COSM425464;OCCURENCE=1(breast) 0.71 NA 5.7948284 1081 14 57676511 57676511 T A intronic EXOC5 NA NA NA intronic ENSG00000070367 NA NA NA Score=750;Name=lod=1495 NA 14q22.3 NA NA Name=71 NA rs10143527 0.23 0.23 NA 0.272165 0.0577 0.0863 0.0994 0.8207 0.0654 0.06 0.08 0.11 0.74 0.148 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.872592 1.872592 NA 0 0.012742 NA 0.326 NA 5.7943 1081 1 16451767 16451767 G A exonic EPHA2 NA synonymous SNV EPHA2:NM_004431:exon17:c.C2874T:p.I958I exonic ENSG00000142627 NA synonymous SNV ENSG00000142627:ENST00000358432:exon17:c.C2874T:p.I958I Score=545;Name=lod=218 NA 1p36.13 NA NA NA NA rs3754334 0.23 0.23 0.245 0.236621 0.3161 0.1548 0.3141 0.1135 0.3507 0.33 0.12 0.29 0.16 0.2751 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.346333 1.346333 NA 0.281279 0.123695 NA 0.13 NA 5.7941876 1081 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 1081 22 23627369 23627369 A G exonic BCR NA nonsynonymous SNV BCR:NM_004327:exon10:c.A2387G:p.N796S,BCR:NM_021574:exon10:c.A2387G:p.N796S exonic ENSG00000186716 NA nonsynonymous SNV ENSG00000186716:ENST00000305877:exon10:c.A2387G:p.N796S,ENSG00000186716:ENST00000359540:exon10:c.A2387G:p.N796S Score=575;Name=lod=289 NA 22q11.23 NA NA NA NA rs140504 0.8 0.8 0.824 0.79373 0.8748 0.5377 0.8573 0.9501 0.7178 0.87 0.54 0.86 0.95 0.8186 0.95 1 T 0.002 B 0.003 B 0.000 N 0.000 P -0.84 N 1.85 T -0.964 T 0.000 T 0.005 -0.107 3.474 1.63 -0.032 0.354 8.956 -0.107306 NA 1 0.84593 0.93872 NA 0.79 NA 5.7940034 1081 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 1081 1 82453022 82453022 A G intronic LPHN2 NA NA NA exonic ENSG00000117114 NA synonymous SNV ENSG00000117114:ENST00000370715:exon20:c.A3507G:p.L1169L Score=680;Name=lod=771 NA 1p31.1 NA NA NA NA rs76995529 0.01 0.01 0.004 0.00459265 0.0179 NA 0.0014 0.0008 0.0031 0.02 NA 0.0028 NA 0.0092 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 -0.428119 NA NA 0.012312 0.005149 NA 0.014 NA 5.7939213 1081 14 51475992 51475992 C T intronic TRIM9 NA NA NA intronic ENSG00000100505 NA NA NA Score=251;Name=lod=14 NA 14q22.1 NA NA Name=2 NA rs17123439 0.07 0.07 0.063 0.0680911 0.0775 NA 0.0951 0.1399 0.0123 0.08 NA 0.09 0.14 0.068 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.05972 2.05972 NA 0.060814 0.100999 NA 0.123 NA 5.793686 1081 19 38994910 38994910 G A exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon50:c.G7977A:p.T2659T,RYR1:NM_001042723:exon50:c.G7977A:p.T2659T exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon50:c.G7977A:p.T2659T,ENSG00000196218:ENST00000359596:exon50:c.G7977A:p.T2659T,ENSG00000196218:ENST00000360985:exon50:c.G7977A:p.T2659T NA NA 19q13.2 NA NA NA NA rs2229144 0.36 0.36 0.351 0.41234 0.2982 0.3532 0.3689 0.5182 0.4785 0.31 0.32 0.35 0.5 0.3261 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.657585 NA NA 0.248837 0.457558 ID=COSM148610;OCCURENCE=1(stomach) 0.348 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079174.1|RCV000119736.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.7935296 1081 22 50962208 50962208 T G exonic SCO2 NA synonymous SNV SCO2:NM_001169109:exon2:c.A633C:p.A211A,SCO2:NM_001169110:exon2:c.A633C:p.A211A,SCO2:NM_001169111:exon2:c.A633C:p.A211A,SCO2:NM_005138:exon2:c.A633C:p.A211A exonic ENSG00000130489 NA synonymous SNV ENSG00000130489:ENST00000252785:exon2:c.A633C:p.A211A,ENSG00000130489:ENST00000395693:exon2:c.A633C:p.A211A,ENSG00000130489:ENST00000535425:exon2:c.A633C:p.A211A,ENSG00000130489:ENST00000543927:exon2:c.A633C:p.A211A NA NA 22q13.33 Score=773;Name=V$PAX5_01 Name=Pol2-4H8 NA NA rs12148 0.64 0.64 0.634 0.655551 0.6183 0.6677 0.6196 0.6694 0.6881 0.61 0.71 0.57 0.67 0.6383 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.168684 NA NA 0.61686 0.670676 NA 0.659 NA 5.7932066 1081 19 37210805 37210805 C T exonic ZNF567 NA synonymous SNV ZNF567:NM_152603:exon4:c.C1086T:p.Y362Y exonic ENSG00000189042 NA synonymous SNV ENSG00000189042:ENST00000392163:exon3:c.C1086T:p.Y362Y,ENSG00000189042:ENST00000585696:exon3:c.C1086T:p.Y362Y,ENSG00000189042:ENST00000360729:exon4:c.C1086T:p.Y362Y,ENSG00000189042:ENST00000588311:exon4:c.C1086T:p.Y362Y,ENSG00000189042:ENST00000536254:exon6:c.C1179T:p.Y393Y NA NA 19q13.12 NA Name=SETDB1,KAP1,ZNF274 Name=38 NA rs3108201 0.71 0.71 0.696 0.697484 0.5994 0.8194 0.6816 0.7776 0.5757 0.6 0.84 0.66 0.76 0.6577 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 -1.167522 NA NA 0.617326 0.744666 NA 0.79 NA 5.7922406 1081 15 42281719 42281719 G A exonic PLA2G4E NA synonymous SNV PLA2G4E:NM_001206670:exon15:c.C1617T:p.G539G exonic ENSG00000188089 NA synonymous SNV ENSG00000188089:ENST00000413860:exon14:c.C1530T:p.G510G,ENSG00000188089:ENST00000399518:exon15:c.C1617T:p.G539G NA NA 15q15.1 NA Name=CTCF NA NA rs1668579 0.36 0.36 0.403 0.423722 0.2803 0.2927 0.2291 0.6861 0.4898 0.28 0.28 0.23 0.68 0.3314 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.138545 NA NA 0.263048 0.582533 NA 0.413 NA 5.7919186 1081 15 102224341 102224341 G A exonic TARSL2 NA synonymous SNV TARSL2:NM_152334:exon12:c.C1587T:p.S529S exonic ENSG00000185418 NA synonymous SNV ENSG00000185418:ENST00000335968:exon12:c.C1587T:p.S529S,ENSG00000185418:ENST00000539112:exon12:c.C1587T:p.S529S Score=458;Name=lod=97 NA 15q26.3 NA NA NA NA rs12901450 0.41 0.41 0.4 0.398762 0.2833 0.7014 0.438 0.2489 0.3804 0.27 0.73 0.43 0.24 0.3345 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 0.722803 NA NA 0.257093 0.247844 NA 0.268 NA 5.7917736 1081 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 1081 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 1081 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 1081 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 1081 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$SOX9_B1 NA NA NA rs9933 0.7 0.7 0.677 0.747804 0.5964 0.631 0.7939 0.9017 0.7832 0.59 0.62 0.76 0.89 0.6714 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066237 NA NA 0.608605 0.85202 NA 0.739 NA 5.7902616 1081 20 1532595 1532595 T C exonic SIRPD NA nonsynonymous SNV SIRPD:NM_178460:exon2:c.A163G:p.N55D exonic ENSG00000125900,ENSG00000260861 NA nonsynonymous SNV ENSG00000125900:ENST00000381621:exon2:c.A163G:p.N55D,ENSG00000125900:ENST00000381623:exon2:c.A163G:p.N55D,ENSG00000260861:ENST00000567028:exon3:c.A520G:p.N174D NA NA 20p13 NA NA NA NA rs2249317 0.84 0.84 0.86 0.842452 0.8588 0.7857 0.6787 0.9425 0.865 0.86 0.78 0.75 0.95 0.8378 0.95 0.32 T 0.0 B 0.0 B 0.497 N 1.000 P -1.63 N 4.41 T -0.980 T 0.000 T 0.006 0.79 8.161 -2.05 -0.523 -0.441 3.063 0.789545 NA 0.21 0.846744 0.917385 NA 0.833 NA 5.7899894 1081 11 372700 372700 G C exonic B4GALNT4 NA synonymous SNV B4GALNT4:NM_178537:exon3:c.G294C:p.G98G exonic ENSG00000182272 NA synonymous SNV ENSG00000182272:ENST00000329962:exon3:c.G294C:p.G98G NA NA 11p15.5 Score=747;Name=V$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 1081 1 151288172 151288172 G A exonic PI4KB NA synonymous SNV PI4KB:NM_001198774:exon2:c.C786T:p.D262D,PI4KB:NM_002651:exon3:c.C822T:p.D274D,PI4KB:NM_001198773:exon4:c.C786T:p.D262D exonic ENSG00000143393 NA synonymous SNV ENSG00000143393:ENST00000271657:exon2:c.C822T:p.D274D,ENSG00000143393:ENST00000368873:exon2:c.C786T:p.D262D,ENSG00000143393:ENST00000368874:exon2:c.C786T:p.D262D,ENSG00000143393:ENST00000368875:exon3:c.C822T:p.D274D,ENSG00000143393:ENST00000438243:exon3:c.C786T:p.D262D,ENSG00000143393:ENST00000368872:exon4:c.C786T:p.D262D Score=690;Name=lod=851 NA 1q21.3 Score=897;Name=V$MEIS1_01 NA NA NA rs1056847 0.53 0.53 0.507 0.509585 0.6342 0.5764 0.5735 0.2693 0.592 0.65 0.55 0.6 0.26 0.5932 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346884 NA NA 0.65 0.341126 NA 0.587 NA 5.7892666 1081 19 39002725 39002725 A G exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon62:c.A9186G:p.P3062P,RYR1:NM_001042723:exon62:c.A9186G:p.P3062P exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon62:c.A9186G:p.P3062P,ENSG00000196218:ENST00000359596:exon62:c.A9186G:p.P3062P,ENSG00000196218:ENST00000360985:exon62:c.A9186G:p.P3062P NA NA 19q13.2 NA NA NA NA rs2071089 0.35 0.35 0.339 0.406949 0.3022 0.3532 0.366 0.4856 0.4928 0.31 0.32 0.35 0.46 0.3251 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.46176 NA NA 0.251279 0.427145 NA 0.333 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079184.1|RCV000119767.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.7880876 1081 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 1081 14 91084338 91084338 C T exonic TTC7B NA synonymous SNV TTC7B:NM_001010854:exon16:c.G1803A:p.E601E exonic ENSG00000165914 NA synonymous SNV ENSG00000165914:ENST00000555894:exon1:c.G30A:p.E10E,ENSG00000165914:ENST00000553972:exon2:c.G213A:p.E71E,ENSG00000165914:ENST00000555005:exon10:c.G1026A:p.E342E,ENSG00000165914:ENST00000328459:exon16:c.G1803A:p.E601E,ENSG00000165914:ENST00000357056:exon16:c.G1803A:p.E601E Score=391;Name=lod=52 NA 14q32.11 NA NA NA NA rs754247 0.43 0.43 0.45 0.466054 0.2694 0.4157 0.3862 0.7186 0.4356 0.26 0.45 0.37 0.72 0.3369 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634252 NA NA 0.27314 0.643441 NA 0.428 NA 5.7872266 1081 10 24908686 24908686 T C exonic ARHGAP21 NA nonsynonymous SNV ARHGAP21:NM_020824:exon9:c.A2138G:p.N713S exonic ENSG00000107863 NA nonsynonymous SNV ENSG00000107863:ENST00000320481:exon2:c.A1499G:p.N500S,ENSG00000107863:ENST00000376410:exon7:c.A2108G:p.N703S,ENSG00000107863:ENST00000396432:exon9:c.A2138G:p.N713S,ENSG00000107863:ENST00000446003:exon9:c.A2138G:p.N713S NA NA 10p12.1 NA NA NA NA rs3748222 0.44 0.44 0.427 0.438299 0.5129 0.369 0.4669 0.4395 0.411 0.51 0.34 0.46 0.44 0.4977 0.54 0.76 T 0.023 B 0.024 B 0.094 N 1.000 P 0.51 N 1.02 T -0.920 T 0.000 T 0.066 -1.106 0.138 1.19 0.367 -0.783 1.035 -1.105936 NA 0.76 0.53593 0.458012 ID=COSM146906;OCCURENCE=1(stomach) 0.486 NA 5.7868034 1081 14 61509924 61509924 T C exonic SLC38A6 NA synonymous SNV SLC38A6:NM_001172702:exon9:c.T684C:p.G228G,SLC38A6:NM_153811:exon9:c.T684C:p.G228G exonic ENSG00000139974 NA synonymous SNV ENSG00000139974:ENST00000529212:exon1:c.T57C:p.G19G,ENSG00000139974:ENST00000267488:exon9:c.T684C:p.G228G,ENSG00000139974:ENST00000354886:exon9:c.T684C:p.G228G,ENSG00000139974:ENST00000451406:exon9:c.T669C:p.G223G,ENSG00000139974:ENST00000456840:exon9:c.T615C:p.G205G Score=391;Name=lod=52 NA 14q23.1 NA NA NA NA rs2296921 0.88 0.88 0.868 0.842851 0.9781 0.7669 0.8573 0.8744 0.729 0.98 0.76 0.87 0.87 0.9187 0.98 . . . . . . . . 0.002 P . . . . -1.023 T 0.000 T . -0.788 0.708 4.08 0.376 -0.298 10.026 -0.78825 NA NA 0.983777 0.872141 NA 0.87 NA 5.7860896 1081 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 1081 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 1081 2 216272907 216272907 A T exonic FN1 NA synonymous SNV FN1:NM_002026:exon17:c.T2442A:p.P814P,FN1:NM_212474:exon17:c.T2442A:p.P814P,FN1:NM_212476:exon17:c.T2442A:p.P814P,FN1:NM_212478:exon17:c.T2442A:p.P814P,FN1:NM_212482:exon17:c.T2442A:p.P814P exonic ENSG00000115414 NA synonymous SNV ENSG00000115414:ENST00000323926:exon17:c.T2442A:p.P814P,ENSG00000115414:ENST00000336916:exon17:c.T2442A:p.P814P,ENSG00000115414:ENST00000345488:exon17:c.T2442A:p.P814P,ENSG00000115414:ENST00000346544:exon17:c.T2442A:p.P814P,ENSG00000115414:ENST00000354785:exon17:c.T2442A:p.P814P,ENSG00000115414:ENST00000356005:exon17:c.T2442A:p.P814P,ENSG00000115414:ENST00000357009:exon17:c.T2442A:p.P814P,ENSG00000115414:ENST00000357867:exon17:c.T2442A:p.P814P,ENSG00000115414:ENST00000359671:exon17:c.T2442A:p.P814P,ENSG00000115414:ENST00000421182:exon17:c.T2442A:p.P814P,ENSG00000115414:ENST00000432072:exon17:c.T2442A:p.P814P,ENSG00000115414:ENST00000443816:exon17:c.T2442A:p.P814P,ENSG00000115414:ENST00000446046:exon17:c.T2442A:p.P814P Score=346;Name=lod=34 NA 2q35 NA NA NA NA rs7596677 0.47 0.47 0.427 0.421526 0.2783 0.9306 0.4697 0.2201 0.2822 0.27 0.97 0.43 0.23 0.3394 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 -0.09868 NA NA 0.263837 0.22946 NA 0.536 NA 5.7851296 1081 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 1082 3 172165727 172165727 C T exonic GHSR NA synonymous SNV GHSR:NM_004122:exon1:c.G477A:p.R159R,GHSR:NM_198407:exon1:c.G477A:p.R159R exonic ENSG00000121853 NA synonymous SNV ENSG00000121853:ENST00000241256:exon1:c.G477A:p.R159R,ENSG00000121853:ENST00000427970:exon1:c.G477A:p.R159R NA Name=Height 3q26.31 NA NA NA NA rs572169 0.27 0.27 0.237 0.238019 0.2763 0.4236 0.2882 0.056 0.2178 0.29 0.44 0.28 0.05 0.3018 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.970458 NA NA 0.303721 0.087835 NA 0.246 NA 5.7848456 1082 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 1082 1 200618238 200618238 T C exonic DDX59 NA synonymous SNV DDX59:NM_001031725:exon6:c.A1431G:p.S477S exonic ENSG00000118197 NA synonymous SNV ENSG00000118197:ENST00000413408:exon2:c.A345G:p.S115S,ENSG00000118197:ENST00000433235:exon4:c.A360G:p.S120S,ENSG00000118197:ENST00000331314:exon6:c.A1431G:p.S477S,ENSG00000118197:ENST00000367348:exon6:c.A1431G:p.S477S,ENSG00000118197:ENST00000447706:exon6:c.A1431G:p.S477S NA NA 1q32.1 NA NA NA NA rs6665604 0.96 0.96 0.947 0.957468 0.9543 1 0.9654 0.9092 0.9765 0.96 1 0.95 0.9 0.9654 1 . . . . . . . . 0.000 P . . . . -1.062 T 0.000 T . 0.399 6.165 -11.0 -3.469 -3.286 6.033 0.398625 NA NA 0.962791 0.92374 NA 0.928 NA 5.7841756 1082 10 76855412 76855412 G A exonic DUSP13 NA synonymous SNV DUSP13:NM_001007272:exon3:c.C465T:p.D155D,DUSP13:NM_016364:exon3:c.C315T:p.D105D,DUSP13:NM_001007273:exon5:c.C594T:p.D198D exonic ENSG00000079393 NA synonymous SNV ENSG00000079393:ENST00000372700:exon3:c.C465T:p.D155D,ENSG00000079393:ENST00000472493:exon3:c.C315T:p.D105D,ENSG00000079393:ENST00000478873:exon3:c.C723T:p.D241D,ENSG00000079393:ENST00000605915:exon4:c.C381T:p.D127D,ENSG00000079393:ENST00000607131:exon5:c.C594T:p.D198D,ENSG00000079393:ENST00000491677:exon7:c.C702T:p.D234D Score=429;Name=lod=74 NA 10q22.2 NA NA NA NA rs3740317 0.42 0.42 0.405 0.421326 0.2773 0.6379 0.4424 0.4289 0.3211 0.29 0.62 0.37 0.4 0.338 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.455782 NA NA 0.267209 0.419655 ID=COSM146972;OCCURENCE=1(stomach) 0.464 NA 5.7841576 1082 19 53911973 53911973 A G exonic ZNF765 NA nonsynonymous SNV ZNF765:NM_001040185:exon4:c.A1165G:p.S389G exonic ENSG00000196417 NA nonsynonymous SNV ENSG00000196417:ENST00000396408:exon4:c.A1165G:p.S389G Score=343;Name=lod=33 NA 19q13.42 NA NA NA NA rs10425136 0.78 0.78 0.756 0.771565 0.8598 0.6667 0.8631 0.7337 0.7751 0.86 0.67 0.85 0.74 0.8268 0.86 . . 0.0 B 0.002 B . . 1.000 P -0.65 N 4.51 T -1.109 T 0.000 T 0.025 -0.855 0.539 1.28 -0.151 0.229 6.661 -0.854659 NA 1 0.863256 0.751475 NA 0.833 NA 5.7834774 1082 22 19907118 19907118 G A exonic TXNRD2 NA unknown UNKNOWN exonic ENSG00000184470 NA synonymous SNV ENSG00000184470:ENST00000334363:exon3:c.C177T:p.A59A,ENSG00000184470:ENST00000535882:exon3:c.C174T:p.A58A,ENSG00000184470:ENST00000542719:exon3:c.C87T:p.A29A Score=543;Name=lod=215 NA 22q11.21 Score=981;Name=V$AP4_Q6 NA NA NA rs5748470 0.6 0.6 0.581 0.596845 0.506 0.881 0.6297 0.3918 0.6513 0.51 0.89 0.59 0.43 0.5649 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 -0.207126 NA NA 0.47933 0.402158 NA 0.522 NA 5.7831033 1082 11 117781435 117781435 A G exonic TMPRSS13 NA synonymous SNV TMPRSS13:NM_001206789:exon6:c.T828C:p.S276S,TMPRSS13:NM_001077263:exon7:c.T933C:p.S311S,TMPRSS13:NM_001206790:exon7:c.T933C:p.S311S,TMPRSS13:NM_001244995:exon7:c.T933C:p.S311S exonic ENSG00000137747 NA synonymous SNV ENSG00000137747:ENST00000528626:exon6:c.T828C:p.S276S,ENSG00000137747:ENST00000430170:exon7:c.T933C:p.S311S,ENSG00000137747:ENST00000445164:exon7:c.T933C:p.S311S,ENSG00000137747:ENST00000524993:exon7:c.T933C:p.S311S,ENSG00000137747:ENST00000526090:exon7:c.T933C:p.S311S Score=425;Name=lod=71 NA 11q23.3 NA Name=CTCF,CTCF_(SC-5916),TFIIIC-110,Rad21,CTCFL_(SC-98982) Name=2 NA rs2155194 0.92 0.92 0.91 0.916733 0.9682 0.875 0.9524 0.9259 0.8691 0.96 0.88 0.96 0.88 0.9435 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 1.329546 1.329546 NA 0.971901 0.94352 NA 0.942 NA 5.7830656 1082 14 105414280 105414280 T G exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.A7508C:p.E2503A exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.A7508C:p.E2503A NA NA 14q32.33 NA NA NA NA rs2819429 0.81 0.81 0.79 0.843251 0.8419 0.628 0.866 0.9834 0.8609 0.84 0.6 0.86 0.98 0.8428 0.98 0.32 T 0.4 B 0.168 B . . 1.000 P 2.47 M 5.62 T -0.977 T 0.000 T 0.083 2.053 12.82 -1.15 0.254 -0.636 2.055 2.052865 2.052865 0.58 0.865812 0.96062 NA 0.652 NA 5.7828214 1082 19 33098632 33098632 G C exonic ANKRD27 NA nonsynonymous SNV ANKRD27:NM_032139:exon23:c.C2282G:p.P761R exonic ENSG00000105186 NA nonsynonymous SNV ENSG00000105186:ENST00000306065:exon23:c.C2282G:p.P761R NA NA 19q13.11 NA NA NA NA rs2302970 0.29 0.29 0.275 0.265176 0.5517 0.0923 0.3329 0.0537 0.3865 0.57 0.09 0.38 0.05 0.4384 0.57 0.24 T 0.004 B 0.005 B 0.020 N 1.000 P -1.485 N 0.09 T -0.907 T 0.000 T 0.096 -0.555 1.489 -0.569 0.350 0.470 2.458 -0.555202 NA 0.54 0.560465 0.134589 NA 0.167 NA 5.7827684 1082 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 1082 5 145500101 145500101 G C intronic LARS NA NA NA intronic ENSG00000133706 NA NA NA Score=243;Name=lod=13 NA 5q32 Score=856;Name=V$OCT1_02 NA NA NA rs17104250 0.06 0.06 0.071 0.0690895 0.0746 NA 0.0461 0.1498 0.0419 0.08 NA 0.05 0.12 0.0671 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.205687 NA NA 0.075832 0.143895 NA 0.072 NA 5.782468 1082 1 46095272 46095272 T C exonic GPBP1L1 NA synonymous SNV GPBP1L1:NM_021639:exon12:c.A1248G:p.K416K exonic ENSG00000159592 NA synonymous SNV ENSG00000159592:ENST00000290795:exon11:c.A1248G:p.K416K,ENSG00000159592:ENST00000355105:exon12:c.A1248G:p.K416K Score=669;Name=lod=700 NA 1p34.1 NA NA NA NA rs1135812 0.3 0.3 0.297 0.319089 0.2833 0.3165 0.3473 0.267 0.409 0.29 0.32 0.31 0.27 0.3049 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.507055 1.507055 NA 0.296279 0.253064 NA 0.399 NA 5.7821876 1082 6 114378970 114378970 C T exonic HS3ST5 NA synonymous SNV HS3ST5:NM_153612:exon2:c.G492A:p.E164E exonic ENSG00000249853 NA synonymous SNV ENSG00000249853:ENST00000411826:exon2:c.G492A:p.E164E,ENSG00000249853:ENST00000312719:exon5:c.G492A:p.E164E Score=429;Name=lod=74 NA 6q21 NA NA NA NA rs2282237 0.3 0.3 0.274 0.301917 0.3032 0.3512 0.4265 0.1604 0.3528 0.29 0.34 0.4 0.2 0.2995 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.500404 NA NA 0.282791 0.189741 ID=COSM150163;OCCURENCE=1(stomach) 0.37 NA 5.7811756 1082 3 175189447 175189447 G A exonic NAALADL2 NA synonymous SNV NAALADL2:NM_207015:exon9:c.G1554A:p.Q518Q exonic ENSG00000177694 NA synonymous SNV ENSG00000177694:ENST00000454872:exon9:c.G1554A:p.Q518Q Score=475;Name=lod=114 NA 3q26.31 Score=784;Name=V$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 1082 20 60899206 60899206 C T exonic LAMA5 NA nonsynonymous SNV LAMA5:NM_005560:exon43:c.G5698A:p.V1900M exonic ENSG00000130702 NA nonsynonymous SNV ENSG00000130702:ENST00000252999:exon43:c.G5698A:p.V1900M NA NA 20q13.33 NA NA NA NA rs2427283 0.68 0.68 0.649 0.66274 0.667 0.7907 0.7061 0.5416 0.6595 0.68 0.8 0.7 0.52 0.6848 0.8 0.13 T 0.839 P 0.231 B 0.032 U 1.000 P 1.855 L 0.02 T -0.986 T 0.000 T 0.255 1.236 10.02 1.99 0.699 0.486 5.858 1.236089 1.236089 0.22 0.700608 0.5433 ID=COSM149203;OCCURENCE=1(stomach) 0.587 NA 5.7809254 1082 11 103058126 103058126 C T exonic DYNC2H1 NA synonymous SNV DYNC2H1:NM_001080463:exon43:c.C6951T:p.H2317H,DYNC2H1:NM_001377:exon43:c.C6951T:p.H2317H exonic ENSG00000187240 NA synonymous SNV ENSG00000187240:ENST00000375735:exon43:c.C6951T:p.H2317H,ENSG00000187240:ENST00000398093:exon43:c.C6951T:p.H2317H Score=475;Name=lod=114 NA 11q22.3 NA NA NA NA rs586592 0.62 0.62 0.593 0.617013 0.6243 0.5526 0.6873 0.6596 0.5685 0.62 0.53 0.67 0.67 0.633 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 -0.311864 NA NA 0.629205 0.673913 NA 0.601 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079444.1;CLNDSDB=.;CLNDSDBID=. 5.7801616 1082 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 1082 1 222800913 222800913 A G intronic MIA3 NA NA NA intronic ENSG00000154305 NA NA NA Score=586;Name=lod=320 NA 1q41 NA Name=STAT3 NA NA rs17530776 0.04 0.04 0.027 0.0297524 0.0785 0.001 0.0504 0.0038 0.0297 0.08 NA 0.05 0.01 0.0591 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 -0.084537 NA NA 0.082906 0.018033 NA 0.022 NA 5.779494 1082 2 27801403 27801403 C G exonic C2orf16 NA nonsynonymous SNV C2orf16:NM_032266:exon1:c.C1964G:p.T655S exonic ENSG00000221843 NA nonsynonymous SNV ENSG00000221843:ENST00000408964:exon1:c.C1964G:p.T655S NA NA 2p23.3 NA NA NA NA rs1919125 0.66 0.66 0.65 0.659545 0.498 0.8462 0.6888 0.7368 0.5082 0.49 0.86 0.63 0.73 0.5605 0.86 0.69 T 0.001 B 0.001 B . . 1.000 P 0.205 N 3.41 T -1.056 T 0.000 T 0.014 -1.182 0.082 -0.677 -0.356 -0.497 5.683 -1.181599 NA 0.04 0.495993 0.694268 NA 0.565 NA 5.7788404 1082 9 80049298 80049298 C T exonic GNA14 NA synonymous SNV GNA14:NM_004297:exon3:c.G450A:p.S150S exonic ENSG00000156049 NA synonymous SNV ENSG00000156049:ENST00000341700:exon3:c.G450A:p.S150S NA NA 9q21.2 Score=881;Name=V$TAL1ALPHAE47_01 NA NA NA rs1801258 0.36 0.36 0.365 0.358027 0.2942 0.3512 0.33 0.5091 0.2464 0.31 0.36 0.29 0.51 0.3105 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.667376 NA NA 0.28407 0.482751 NA 0.297 NA 5.7778966 1082 19 52249702 52249702 G T exonic FPR1 NA synonymous SNV FPR1:NM_002029:exon2:c.C546A:p.P182P,FPR1:NM_001193306:exon3:c.C546A:p.P182P exonic ENSG00000171051 NA synonymous SNV ENSG00000171051:ENST00000304748:exon2:c.C546A:p.P182P,ENSG00000171051:ENST00000600815:exon2:c.C546A:p.P182P,ENSG00000171051:ENST00000595042:exon3:c.C546A:p.P182P Score=251;Name=lod=14 NA 19q13.41 NA NA NA NA rs2070746 0.36 0.36 0.338 0.351038 0.2763 0.4484 0.4164 0.3215 0.3211 0.29 0.48 0.38 0.31 0.3285 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220217 NA NA 0.284419 0.29823 NA 0.261 NA 5.7774476 1082 17 26092631 26092631 A G exonic NOS2 NA synonymous SNV NOS2:NM_000625:exon20:c.T2358C:p.G786G exonic ENSG00000007171 NA synonymous SNV ENSG00000007171:ENST00000313735:exon20:c.T2358C:p.G786G Score=387;Name=lod=50 NA 17q11.2 Score=762;Name=V$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 1082 11 72290629 72290629 G A exonic PDE2A NA synonymous SNV PDE2A:NM_001143839:exon25:c.C2184T:p.I728I,PDE2A:NM_001243784:exon26:c.C2142T:p.I714I,PDE2A:NM_002599:exon26:c.C2205T:p.I735I,PDE2A:NM_001146209:exon27:c.C2178T:p.I726I exonic ENSG00000186642 NA synonymous SNV ENSG00000186642:ENST00000420501:exon5:c.C342T:p.I114I,ENSG00000186642:ENST00000542223:exon7:c.C498T:p.I166I,ENSG00000186642:ENST00000441209:exon8:c.C828T:p.I276I,ENSG00000186642:ENST00000376450:exon16:c.C1437T:p.I479I,ENSG00000186642:ENST00000418754:exon22:c.C1860T:p.I620I,ENSG00000186642:ENST00000544570:exon25:c.C2184T:p.I728I,ENSG00000186642:ENST00000334456:exon26:c.C2205T:p.I735I,ENSG00000186642:ENST00000444035:exon26:c.C2178T:p.I726I,ENSG00000186642:ENST00000540345:exon27:c.C2178T:p.I726I Score=561;Name=lod=255 NA 11q13.4 NA NA NA NA rs392565 0.27 0.27 0.273 0.285543 0.2942 0.2798 0.2406 0.2534 0.3579 0.3 0.26 0.24 0.25 0.2988 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.373592 1.373592 NA 0.297345 0.269773 NA 0.217 NA 5.7763216 1082 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 1082 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 1082 2 189974958 189974958 G T exonic COL5A2 NA synonymous SNV COL5A2:NM_000393:exon2:c.C315A:p.T105T exonic ENSG00000204262 NA synonymous SNV ENSG00000204262:ENST00000374866:exon2:c.C315A:p.T105T NA NA 2q32.2 Score=738;Name=V$MEF2_04 Name=EBF1_(C-8),CTCF,EBF,Rad21 Name=40 NA rs4128539 0.91 0.91 0.91 0.888578 0.9771 0.8958 0.8242 0.8502 0.8875 0.98 0.9 0.85 0.88 0.9322 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 0.08235 NA NA 0.981512 0.858829 NA 0.884 NA 5.7758546 1082 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 1082 18 67531642 67531642 T C exonic CD226 NA nonsynonymous SNV CD226:NM_006566:exon7:c.A919G:p.S307G exonic ENSG00000150637 NA nonsynonymous SNV ENSG00000150637:ENST00000581982:exon5:c.A454G:p.S152G,ENSG00000150637:ENST00000582621:exon6:c.A919G:p.S307G,ENSG00000150637:ENST00000280200:exon7:c.A919G:p.S307G,ENSG00000150637:ENST00000577287:exon7:c.A454G:p.S152G NA Name=Type 1 diabetes autoantibodies,Type 1 diabetes 18q22.2 NA NA NA NA rs763361 0.49 0.49 0.445 0.469449 0.5268 0.6121 0.5476 0.2632 0.4867 0.51 0.63 0.55 0.26 0.5104 0.63 0.06 T 0.001 B 0.002 B 0.765 N 1.000 P 0 N 1.9 T -0.940 T 0.000 T 0.045 -1.251 0.051 0.225 0.257 -0.188 . -1.250683 NA 0.22 0.520581 0.318429 ID=COSM1179777;OCCURENCE=1(prostate) 0.457 NA 5.7755524 1082 19 38995510 38995510 T C exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon51:c.T8190C:p.D2730D,RYR1:NM_001042723:exon51:c.T8190C:p.D2730D exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon51:c.T8190C:p.D2730D,ENSG00000196218:ENST00000359596:exon51:c.T8190C:p.D2730D,ENSG00000196218:ENST00000360985:exon51:c.T8190C:p.D2730D NA NA 19q13.2 NA NA NA NA rs2915951 0.37 0.37 0.353 0.417133 0.3072 0.3532 0.3703 0.5182 0.4928 0.32 0.32 0.35 0.5 0.3294 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21296 NA NA 0.254535 0.458466 ID=COSM148612;OCCURENCE=1(stomach) 0.348 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079176.1|RCV000119741.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.7755316 1082 13 78318389 78318389 G A intronic SLAIN1 NA NA NA intronic ENSG00000139737 NA NA NA NA NA 13q22.3 NA Name=MafK_(ab50322),MafK_(SC-477) NA NA rs17777179 0.04 0.04 0.028 0.0517173 0.0795 0.0317 0.0403 0.003 0.1176 0.07 0.01 0.04 0.01 0.0672 0.078 1 T . . . . . . 1.000 N . . . . . . . . . 5.099 31 -0.654 -0.034 0.381 0.541 5.099296 5.099296 0 0.077907 0.014526 NA 0.043 NA 5.775393 1083 16 81888152 81888152 A G exonic PLCG2 NA synonymous SNV PLCG2:NM_002661:exon3:c.A297G:p.L99L exonic ENSG00000197943 NA synonymous SNV ENSG00000197943:ENST00000359376:exon3:c.A297G:p.L99L,ENSG00000197943:ENST00000565054:exon4:c.A297G:p.L99L Score=562;Name=lod=256 NA 16q23.3 NA NA NA NA rs1143686 0.21 0.21 0.204 0.212061 0.3111 0.0625 0.2853 0.1415 0.3078 0.32 0.08 0.3 0.13 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 -0.413311 NA NA 0.305693 0.15545 NA 0.21 NA 5.7746736 1083 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=Pol2,CTCF,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 1083 X 152771509 152771509 C T exonic BGN NA synonymous SNV BGN:NM_001711:exon4:c.C540T:p.S180S exonic ENSG00000182492 NA synonymous SNV ENSG00000182492:ENST00000331595:exon4:c.C540T:p.S180S,ENSG00000182492:ENST00000431891:exon4:c.C591T:p.S197S,ENSG00000182492:ENST00000370204:exon5:c.C357T:p.S119S NA NA Xq28 Score=958;Name=V$AP2REP_01 NA NA NA rs1126499 0.37 0.37 0.3275 NA NA NA NA NA NA 0.51 0.38 0.4 0.11 0.4267 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733023 NA NA 0.465963 0.163755 ID=COSM1569627;OCCURENCE=1(large_intestine) 0.145 NA 5.7740036 1083 17 76170830 76170830 C T UTR3 TK1 NM_003258:c.*10G>A NA NA UTR3 ENSG00000167900 ENST00000301634:c.*10G>A,ENST00000405273:c.*10G>A,ENST00000588734:c.*10G>A,ENST00000590862:c.*10G>A NA NA NA NA 17q25.3 NA Name=STAT3,c-Myc,CTCF_(C-20),Pol2-4H8,CTCF_(SC-5916),CTCF,Pol2 Name=62 NA rs1065768 0.29 0.29 0.294 0.318291 0.1272 0.4286 0.3646 0.3336 0.3476 0.13 0.46 0.3 0.35 0.3144 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570413 NA NA 0.118017 0.293088 NA 0.319 NA 5.7737164 1083 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 1083 1 67795319 67795319 T C exonic IL12RB2 NA synonymous SNV IL12RB2:NM_001258215:exon6:c.T714C:p.S238S,IL12RB2:NM_001258216:exon6:c.T714C:p.S238S,IL12RB2:NM_001559:exon6:c.T714C:p.S238S,IL12RB2:NM_001258214:exon7:c.T714C:p.S238S exonic ENSG00000081985 NA synonymous SNV ENSG00000081985:ENST00000262345:exon6:c.T714C:p.S238S,ENSG00000081985:ENST00000371000:exon6:c.T714C:p.S238S,ENSG00000081985:ENST00000544434:exon6:c.T714C:p.S238S,ENSG00000081985:ENST00000541374:exon7:c.T714C:p.S238S NA NA 1p31.3 NA NA NA NA rs1495963 0.86 0.86 0.849 0.85024 0.9771 0.8056 0.9035 0.7171 0.908 0.97 0.79 0.91 0.75 0.9317 0.99 . . . . . . . . 1.000 P . . . . -1.083 T 0.022 T . -1.147 0.105 -10.4 -3.252 -2.530 8.221 -1.14676 NA NA 0.985233 0.764185 NA 0.891 NA 5.7726336 1083 12 53497927 53497927 C G intronic SOAT2 NA NA NA intronic ENSG00000167780 NA NA NA NA NA 12q13.13 NA Name=RXRA,TCF4,FOXA2_(SC-6554),HNF4A_(H-171),TR4,HDAC2_(SC-6296),p300,FOXA1_(SC-101058),FOXA1_(C-20),HNF4A,ELF1_(SC-631),HNF4G_(SC-6558),EBF1_(C-8) Name=30 NA rs17123210 0.12 0.12 0.106 0.126198 0.0686 0.1518 0.1484 0.1293 0.1391 0.07 0.15 0.13 0.15 0.0899 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368844 NA NA 0.068953 0.111666 NA 0.101 NA 5.772547 1083 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 1083 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 1083 2 173831934 173831934 C T intronic RAPGEF4 NA NA NA intronic ENSG00000091428 NA NA NA NA NA 2q31.1 NA Name=SP1,RXRA,BHLHE40,FOXA1_(C-20),USF-1,FOXA1_(SC-101058),p300 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 1083 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 1083 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 1083 14 20665887 20665887 G C exonic OR11G2 NA synonymous SNV OR11G2:NM_001005503:exon1:c.G393C:p.S131S exonic ENSG00000196832 NA synonymous SNV ENSG00000196832:ENST00000357366:exon1:c.G393C:p.S131S Score=349;Name=lod=35 NA 14q11.2 NA Name=PU.1 Name=5 NA rs4981823 0.9 0.9 0.901 0.905751 0.9781 0.7192 0.8876 0.9962 0.9141 0.97 0.72 0.91 0.99 0.9381 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 0.18348 NA NA 0.981628 0.98956 NA 0.949 NA 5.7688386 1083 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 1083 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 1083 3 5241309 5241309 C A exonic EDEM1 NA synonymous SNV EDEM1:NM_014674:exon3:c.C615A:p.A205A exonic ENSG00000134109 NA synonymous SNV ENSG00000134109:ENST00000256497:exon3:c.C615A:p.A205A,ENSG00000134109:ENST00000445686:exon3:c.C30A:p.A10A Score=611;Name=lod=407 NA 3p26.1 NA Name=Pol2,NFKB,MEF2A,BATF,TBP,PU.1 Name=13 NA rs410509 0.94 0.94 0.929 0.917332 0.9682 0.9435 0.987 0.8646 0.8599 0.97 0.95 0.98 0.85 0.9547 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 1.401981 1.401981 NA 0.975581 0.88266 NA 0.906 NA 5.7681856 1083 3 179298999 179298999 C T exonic ACTL6A NA synonymous SNV ACTL6A:NM_004301:exon11:c.C1017T:p.D339D,ACTL6A:NM_177989:exon11:c.C891T:p.D297D,ACTL6A:NM_178042:exon11:c.C891T:p.D297D exonic ENSG00000136518 NA synonymous SNV ENSG00000136518:ENST00000392662:exon11:c.C891T:p.D297D,ENSG00000136518:ENST00000429709:exon11:c.C1017T:p.D339D,ENSG00000136518:ENST00000450518:exon11:c.C891T:p.D297D Score=569;Name=lod=274 NA 3q26.33 NA NA Name=2 NA rs1132429 0.69 0.69 0.679 0.680511 0.6203 0.8869 0.6744 0.5507 0.7096 0.62 0.91 0.67 0.54 0.6516 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 1.036749 NA NA 0.626628 0.555379 NA 0.71 NA 5.7681386 1083 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=E2F6_(H-50),CHD2_(N-1250),HEY1,Pol2-4H8 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 1083 11 117267884 117267884 A G exonic CEP164 NA nonsynonymous SNV CEP164:NM_001271933:exon26:c.A3365G:p.Q1122R,CEP164:NM_014956:exon27:c.A3356G:p.Q1119R exonic ENSG00000110274 NA nonsynonymous SNV ENSG00000110274:ENST00000278935:exon27:c.A3356G:p.Q1119R NA NA 11q23.3 NA NA NA NA rs573455 0.46 0.46 0.464 0.463259 0.5358 0.381 0.3386 0.5318 0.4693 0.53 0.38 0.39 0.5 0.4852 0.54 1 T 0.001 B 0.002 B 0.340 N 1.000 P -0.405 N 2.24 T -0.949 T 0.000 T 0.06 -2.309 0.004 -1.69 -0.916 -0.650 10.301 -2.309267 NA 1 0.544809 0.512494 NA 0.558 NA 5.7675244 1083 14 64496749 64496749 C T exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon44:c.C6851T:p.A2284V,SYNE2:NM_182914:exon44:c.C6851T:p.A2284V exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000554584:exon43:c.C6851T:p.A2284V,ENSG00000054654:ENST00000344113:exon44:c.C6851T:p.A2284V,ENSG00000054654:ENST00000358025:exon44:c.C6851T:p.A2284V NA NA 14q23.2 NA NA NA NA rs4027402 0.72 0.72 0.689 0.671925 0.8757 0.7768 0.7968 0.3215 0.7393 0.87 0.81 0.79 0.35 0.8122 0.88 0.68 T 0.055 B 0.02 B 0.325 N 1.000 P 0.895 L 1.29 T -0.997 T 0.000 T 0.047 0.102 4.551 1.21 0.012 0.338 4.485 0.102367 NA 0.18 0.878276 0.436378 NA 0.688 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118544.1;CLNDSDB=.;CLNDSDBID=. 5.7671574 1083 18 55027526 55027526 C T UTR3 ST8SIA3 NM_015879:c.*18C>T NA NA UTR3 ENSG00000177511 ENST00000324000:c.*18C>T NA NA Score=514;Name=lod=163 NA 18q21.31 Score=831;Name=V$IRF7_01 NA NA NA rs739692 0.33 0.33 0.325 0.340256 0.1541 0.498 0.3256 0.4138 0.2802 0.15 0.54 0.29 0.4 0.256 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.5379 2.5379 NA 0.156395 0.384703 NA 0.312 NA 5.7668384 1083 6 152201875 152201875 T C exonic ESR1 NA synonymous SNV ESR1:NM_000125:exon3:c.T729C:p.R243R,ESR1:NM_001122740:exon4:c.T729C:p.R243R,ESR1:NM_001122741:exon4:c.T729C:p.R243R,ESR1:NM_001122742:exon5:c.T729C:p.R243R exonic ENSG00000091831 NA synonymous SNV ENSG00000091831:ENST00000415488:exon1:c.T84C:p.R28R,ENSG00000091831:ENST00000206249:exon3:c.T729C:p.R243R,ENSG00000091831:ENST00000544394:exon3:c.T210C:p.R70R,ENSG00000091831:ENST00000338799:exon4:c.T729C:p.R243R,ENSG00000091831:ENST00000443427:exon4:c.T729C:p.R243R,ENSG00000091831:ENST00000456483:exon4:c.T729C:p.R243R,ENSG00000091831:ENST00000440973:exon5:c.T729C:p.R243R Score=489;Name=lod=129 NA 6q25.1 NA NA NA NA rs4986934 0.98 0.98 0.987 0.985623 0.9692 1 0.964 0.997 0.9877 0.96 1 0.97 1 0.9707 1 . . . . . . . . 0.000 P . . . . -1.062 T 0.050 T . 1.641 11.44 2.11 0.222 -0.059 5.366 1.640826 1.640826 NA 0.96 0.991829 NA 0.942 NA 5.7667666 1083 19 12963143 12963143 T C exonic MAST1 NA synonymous SNV MAST1:NM_014975:exon10:c.T1011C:p.D337D exonic ENSG00000105613 NA synonymous SNV ENSG00000105613:ENST00000251472:exon10:c.T1011C:p.D337D,ENSG00000105613:ENST00000591495:exon11:c.T999C:p.D333D NA NA 19p13.2 Score=1000;Name=V$AML1_01 NA NA NA rs1078264 0.44 0.44 0.448 0.446885 0.2893 0.621 0.3343 0.4652 0.4847 0.28 0.67 0.3 0.51 0.3434 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.312818 NA NA 0.267209 0.435089 NA 0.399 NA 5.7667576 1083 12 57108203 57108203 A G exonic NACA NA synonymous SNV NACA:NM_001113202:exon4:c.T177C:p.I59I,NACA:NM_001113203:exon7:c.T2307C:p.I769I exonic ENSG00000196531 NA synonymous SNV ENSG00000196531:ENST00000550920:exon3:c.T171C:p.I57I,ENSG00000196531:ENST00000356769:exon4:c.T177C:p.I59I,ENSG00000196531:ENST00000393891:exon4:c.T177C:p.I59I,ENSG00000196531:ENST00000546392:exon4:c.T177C:p.I59I,ENSG00000196531:ENST00000549259:exon4:c.T177C:p.I59I,ENSG00000196531:ENST00000552055:exon4:c.T165C:p.I55I,ENSG00000196531:ENST00000552540:exon4:c.T177C:p.I59I,ENSG00000196531:ENST00000454682:exon5:c.T5766C:p.I1922I,ENSG00000196531:ENST00000549855:exon5:c.T177C:p.I59I,ENSG00000196531:ENST00000550952:exon7:c.T2307C:p.I769I Score=637;Name=lod=519 NA 12q13.3 Score=814;Name=V$CDP_02 NA NA NA rs4902 0.6 0.6 0.543 0.607628 0.6252 0.7401 0.6657 0.3343 0.7812 0.61 0.75 0.69 0.35 0.6537 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 0.792472 NA NA 0.621512 0.413073 ID=COSM1128524,COSM1128525;OCCURENCE=1(prostate) 0.551 NA 5.7662546 1083 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 1083 5 112399791 112399791 G A exonic MCC NA synonymous SNV MCC:NM_002387:exon12:c.C1533T:p.N511N,MCC:NM_001085377:exon14:c.C2103T:p.N701N exonic ENSG00000171444 NA synonymous SNV ENSG00000171444:ENST00000302475:exon12:c.C1533T:p.N511N,ENSG00000171444:ENST00000515367:exon12:c.C1344T:p.N448N,ENSG00000171444:ENST00000408903:exon14:c.C2103T:p.N701N Score=381;Name=lod=47 NA 5q22.2 NA NA Name=7 NA rs2227947 0.54 0.54 0.514 0.513379 0.6571 0.6349 0.67 0.1407 0.6329 0.65 0.65 0.64 0.17 0.6034 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.450955 1.450955 NA 0.640116 0.213669 NA 0.486 NA 5.7660506 1083 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 1083 4 154513722 154513722 C T exonic KIAA0922 NA synonymous SNV KIAA0922:NM_001131007:exon18:c.C1908T:p.H636H,KIAA0922:NM_015196:exon18:c.C1905T:p.H635H exonic ENSG00000121210 NA synonymous SNV ENSG00000121210:ENST00000409663:exon18:c.C1905T:p.H635H,ENSG00000121210:ENST00000409959:exon18:c.C1908T:p.H636H Score=336;Name=lod=31 NA 4q31.3 NA NA NA NA rs7669741 0.26 0.26 0.247 0.225639 0.3072 0.2361 0.2147 0.1483 0.2434 0.32 0.27 0.26 0.14 0.2836 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.351152 NA NA 0.310465 0.180209 ID=COSM149745;OCCURENCE=1(stomach) 0.232 NA 5.7654016 1084 5 168098463 168098463 A G exonic SLIT3 NA synonymous SNV SLIT3:NM_001271946:exon34:c.T3888C:p.S1296S,SLIT3:NM_003062:exon34:c.T3867C:p.S1289S exonic ENSG00000184347 NA synonymous SNV ENSG00000184347:ENST00000332966:exon34:c.T3888C:p.S1296S,ENSG00000184347:ENST00000404867:exon34:c.T3867C:p.S1289S,ENSG00000184347:ENST00000519560:exon34:c.T3867C:p.S1289S NA NA 5q34 Score=816;Name=V$PAX5_01 Name=Rad21,CTCF_(SC-5916),CTCF Name=7 NA rs292486 0.98 0.98 0.993 0.988219 0.9692 1 0.9741 0.9977 0.9928 0.97 1 0.97 1 0.9737 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.662853 NA NA 0.95907 0.994326 NA 0.942 NA 5.7646966 1084 1 44035352 44035352 C T exonic PTPRF NA synonymous SNV PTPRF:NM_002840:exon6:c.C471T:p.A157A,PTPRF:NM_130440:exon6:c.C471T:p.A157A exonic ENSG00000142949 NA synonymous SNV ENSG00000142949:ENST00000372413:exon4:c.C471T:p.A157A,ENSG00000142949:ENST00000372414:exon4:c.C471T:p.A157A,ENSG00000142949:ENST00000437607:exon4:c.C471T:p.A157A,ENSG00000142949:ENST00000359947:exon6:c.C471T:p.A157A,ENSG00000142949:ENST00000438120:exon6:c.C471T:p.A157A Score=507;Name=lod=154 NA 1p34.2 NA NA NA NA rs1065771 0.24 0.24 0.193 0.222045 0.3101 0.2917 0.2363 0.0356 0.3016 0.32 0.28 0.25 0.04 0.282 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045738 NA NA 0.31 0.083749 NA 0.167 NA 5.7645666 1084 4 175225452 175225452 G A exonic CEP44 NA nonsynonymous SNV CEP44:NM_001040157:exon6:c.G439A:p.G147S,CEP44:NM_001145314:exon6:c.G439A:p.G147S exonic ENSG00000164118 NA nonsynonymous SNV ENSG00000164118:ENST00000296519:exon4:c.G439A:p.G147S,ENSG00000164118:ENST00000426172:exon4:c.G439A:p.G147S,ENSG00000164118:ENST00000396791:exon6:c.G439A:p.G147S,ENSG00000164118:ENST00000457424:exon6:c.G439A:p.G147S,ENSG00000164118:ENST00000503780:exon6:c.G439A:p.G147S,ENSG00000164118:ENST00000515299:exon6:c.G439A:p.G147S NA NA 4q34.1 NA NA NA NA rs4695918 0.41 0.41 0.403 0.440296 0.5477 0.1597 0.3184 0.5809 0.5153 0.55 0.16 0.36 0.55 0.481 0.57 1 T 0.0 B 0.0 B 0.380 N 1.000 P -0.69 N 1.08 T -0.916 T 0.000 T 0.01 -1.935 0.007 0.671 -0.181 -0.070 8.849 -1.935401 NA 0.91 0.540349 0.569905 NA 0.536 NA 5.7642844 1084 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 1084 8 142170884 142170884 C T exonic DENND3 NA synonymous SNV DENND3:NM_014957:exon9:c.C1110T:p.F370F exonic ENSG00000105339 NA synonymous SNV ENSG00000105339:ENST00000262585:exon9:c.C1110T:p.F370F,ENSG00000105339:ENST00000519811:exon9:c.C1350T:p.F450F Score=455;Name=lod=94 NA 8q24.3 NA NA NA NA rs2289001 0.28 0.28 0.261 0.293131 0.2724 0.3393 0.3386 0.1339 0.4499 0.27 0.33 0.37 0.17 0.3372 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.425291 2.425291 NA 0.292987 0.166439 ID=COSM454105;OCCURENCE=1(breast) 0.239 NA 5.7640796 1084 2 37456032 37456032 C T exonic CEBPZ NA nonsynonymous SNV CEBPZ:NM_005760:exon2:c.G304A:p.V102I exonic ENSG00000115816 NA nonsynonymous SNV ENSG00000115816:ENST00000234170:exon2:c.G304A:p.V102I,ENSG00000115816:ENST00000446769:exon2:c.G157A:p.V53I NA NA 2p22.2 NA Name=PU.1 NA NA rs2098386 0.93 0.93 0.941 0.939896 0.8549 1 0.9496 0.9902 0.8906 0.84 1 0.95 0.98 0.8788 1 1 T 0.0 B 0.0 B 0.474 N 1.000 P -0.695 N 4.32 T -1.018 T 0.000 T 0.01 -2.817 0 -1.81 -0.431 0.135 3.633 -2.81682 NA 1 0.835814 0.964805 NA 0.964 NA 5.7638194 1084 22 31266546 31266546 T C exonic OSBP2 NA synonymous SNV OSBP2:NM_030758:exon3:c.T984C:p.A328A exonic ENSG00000184792 NA synonymous SNV ENSG00000184792:ENST00000437268:exon2:c.T210C:p.A70A,ENSG00000184792:ENST00000332585:exon3:c.T984C:p.A328A,ENSG00000184792:ENST00000382310:exon3:c.T984C:p.A328A,ENSG00000184792:ENST00000407373:exon3:c.T465C:p.A155A,ENSG00000184792:ENST00000446658:exon3:c.T984C:p.A328A,ENSG00000184792:ENST00000403222:exon4:c.T489C:p.A163A NA NA 22q12.2 Score=803;Name=V$SRF_C Name=c-Jun,eGFP-JunD NA NA rs2301816 0.72 0.72 0.72 0.706669 0.6252 0.8234 0.6686 0.7383 0.6544 0.64 0.83 0.66 0.77 0.6577 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 0.67757 NA NA 0.619995 0.728241 NA 0.717 NA 5.7637716 1084 17 60758273 60758273 G C exonic MRC2 NA synonymous SNV MRC2:NM_006039:exon17:c.G2586C:p.S862S exonic ENSG00000011028 NA synonymous SNV ENSG00000011028:ENST00000303375:exon17:c.G2586C:p.S862S NA NA 17q23.2 Score=867;Name=V$RORA1_01 Name=Max,c-Myc,Nrf1,Mxi1_(bHLH),Pol2,USF2,E2F6,CTCF Name=14 NA rs2245463 0.89 0.89 0.877 0.847444 0.9801 0.9286 0.9597 0.6346 0.8354 0.98 0.93 0.95 0.65 0.9382 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 -0.442845 NA NA 0.984651 0.709487 NA 0.507 NA 5.7637156 1084 2 33540248 33540248 G A exonic LTBP1 NA synonymous SNV LTBP1:NM_000627:exon20:c.G2664A:p.P888P,LTBP1:NM_001166264:exon20:c.G2664A:p.P888P,LTBP1:NM_001166265:exon20:c.G2505A:p.P835P,LTBP1:NM_001166266:exon20:c.G2505A:p.P835P,LTBP1:NM_206943:exon24:c.G3642A:p.P1214P exonic ENSG00000049323 NA synonymous SNV ENSG00000049323:ENST00000422669:exon3:c.G276A:p.P92P,ENSG00000049323:ENST00000272273:exon6:c.G462A:p.P154P,ENSG00000049323:ENST00000390003:exon20:c.G2667A:p.P889P,ENSG00000049323:ENST00000402934:exon20:c.G2505A:p.P835P,ENSG00000049323:ENST00000404525:exon20:c.G2505A:p.P835P,ENSG00000049323:ENST00000407925:exon20:c.G2664A:p.P888P,ENSG00000049323:ENST00000418533:exon20:c.G2664A:p.P888P,ENSG00000049323:ENST00000354476:exon24:c.G3645A:p.P1215P,ENSG00000049323:ENST00000404816:exon24:c.G3642A:p.P1214P Score=529;Name=lod=189 NA 2p22.3 NA NA NA NA rs1058840 0.49 0.49 0.464 0.460264 0.6481 0.3095 0.6282 0.3169 0.4969 0.67 0.31 0.62 0.31 0.6003 0.67 . . . . . . . . 0.000 P . . . . -0.975 T 0.000 T . 0.817 8.289 1.28 -0.276 -0.419 0.977 0.817316 NA NA 0.654651 0.369723 NA 0.507 NA 5.7636156 1084 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 1084 7 16793668 16793668 A G intronic TSPAN13 NA NA NA intronic ENSG00000106537 NA NA NA NA NA 7p21.1 NA Name=Egr-1,Sin3Ak-20,Pol2 Name=78 NA rs75735669 0.05 0.05 0.027 0.0425319 0.0706 0.001 0.1427 0.0023 0.0399 0.07 0.0017 0.14 0.0041 0.076 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.301827 1.301827 NA 0.090233 0.02315 NA 0.029 NA 5.763167 1084 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 1084 1 55166842 55166842 C T exonic MROH7 NA synonymous SNV MROH7:NM_001039464:exon19:c.C3132T:p.P1044P exonic ENSG00000184313,ENSG00000271723 NA synonymous SNV ENSG00000184313:ENST00000409996:exon17:c.C1836T:p.P612P,ENSG00000184313:ENST00000454855:exon17:c.C1686T:p.P562P,ENSG00000271723:ENST00000414150:exon19:c.C3132T:p.P1044P,ENSG00000184313:ENST00000421030:exon19:c.C3132T:p.P1044P Score=478;Name=lod=117 NA 1p32.3 NA NA NA NA rs1065173 0.24 0.24 0.235 0.25 0.3191 0.1141 0.2248 0.264 0.318 0.32 0.11 0.23 0.29 0.2815 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.775102 NA NA 0.303019 0.258427 ID=COSM1126984,COSM1126986;OCCURENCE=1(prostate) 0.275 NA 5.7630476 1084 12 7805236 7805236 C G exonic APOBEC1 NA nonsynonymous SNV APOBEC1:NM_001644:exon3:c.G240C:p.M80I exonic ENSG00000111701 NA nonsynonymous SNV ENSG00000111701:ENST00000229304:exon3:c.G240C:p.M80I NA NA 12p13.31 NA NA NA NA rs2302515 0.7 0.7 0.67 0.659145 0.8946 0.5565 0.6225 0.4962 0.7689 0.89 0.57 0.7 0.54 0.7853 0.89 0.24 T 0.0 B 0.0 B 0.804 N 1.000 P -1.39 N -0.03 T -0.972 T 0.000 T 0.051 -0.728 0.882 2.61 0.468 -0.218 4.417 -0.728398 NA 0.47 0.890465 0.560599 NA 0.645 NA 5.7629684 1084 6 79656562 79656562 A T exonic PHIP NA synonymous SNV PHIP:NM_017934:exon37:c.T4236A:p.A1412A exonic ENSG00000146247 NA synonymous SNV ENSG00000146247:ENST00000275034:exon37:c.T4236A:p.A1412A Score=672;Name=lod=721 NA 6q14.1 NA NA NA NA rs2275291 0.28 0.28 0.272 0.240615 0.3211 0.1845 0.2853 0.2564 0.1626 0.34 0.22 0.3 0.27 0.2814 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694803 NA NA 0.301279 0.273718 NA 0.29 NA 5.7628876 1084 18 3176063 3176063 C T exonic MYOM1 NA synonymous SNV MYOM1:NM_003803:exon6:c.G999A:p.G333G,MYOM1:NM_019856:exon6:c.G999A:p.G333G exonic ENSG00000101605 NA synonymous SNV ENSG00000101605:ENST00000261606:exon6:c.G999A:p.G333G,ENSG00000101605:ENST00000356443:exon6:c.G999A:p.G333G,ENSG00000101605:ENST00000400569:exon6:c.G999A:p.G333G Score=626;Name=lod=468 NA 18p11.31 NA NA NA NA rs2230162 0.26 0.26 0.244 0.273163 0.3062 0.2659 0.2161 0.2436 0.3272 0.3 0.24 0.23 0.24 0.2861 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.24012 1.24012 NA 0.311596 0.256639 NA 0.297 NA 5.7627706 1084 2 131100496 131100496 G A UTR5 IMP4 NM_033416:c.-10G>A NA NA UTR5 ENSG00000136718 ENST00000259239:c.-10G>A,ENST00000409935:c.-10G>A,ENST00000409649:c.-2512G>A,ENST00000456713:c.-10G>A NA NA NA NA 2q21.1 NA Name=YY1,CCNT2,TBP,GTF2F1_(RAP-74),ZNF263,IRF1,TAL1_(SC-12984),SP1,c-Myc,YY1_(C-20),Max,Mxi1_(bHLH),eGFP-JunD,SIX5,THAP1_(SC-98174),Sin3Ak-20,Pol2-4H8,GABP,ZEB1_(SC-25388),RFX5_(N-494),TAF1,BCLAF1_(M33-P5B11),ETS1,HEY1,GRp20,KAP1,ELF1_(SC-631),Pol2,HDAC2_(SC-6296) Name=148 NA rs11542416 0.1 0.1 0.114 0.0788738 0.2177 0.002 0.0807 0.0151 0.1002 0.23 NA 0.09 0.02 0.1421 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032311 NA NA 0.210814 0.040853 NA 0.058 NA 5.7627194 1084 13 50123622 50123622 G C exonic RCBTB1 NA synonymous SNV RCBTB1:NM_018191:exon9:c.C1017G:p.P339P exonic ENSG00000136144 NA synonymous SNV ENSG00000136144:ENST00000258646:exon7:c.C1017G:p.P339P,ENSG00000136144:ENST00000378302:exon9:c.C1017G:p.P339P,ENSG00000136144:ENST00000546015:exon9:c.C1017G:p.P339P NA NA 13q14.2 Score=765;Name=V$TCF11MAFG_01 Name=CTCF_(SC-5916),CTCF,Rad21 NA NA rs3751384 0.54 0.54 0.508 0.47524 0.6441 0.5149 0.6441 0.2632 0.4274 0.66 0.55 0.6 0.27 0.5852 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525323 NA NA 0.675465 0.317975 NA 0.384 NA 5.7619016 1084 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 1084 10 119307524 119307524 T A intronic EMX2 NA NA NA intronic ENSG00000170370 NA NA NA NA NA 10q26.11 Score=888;Name=V$GATA1_04 Name=SP1,SUZ12 Name=18 NA rs2240776 0.51 0.51 0.494 0.458067 0.6153 0.5417 0.5591 0.2474 0.4233 0.61 0.59 0.55 0.25 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48264 NA NA 0.624056 0.300915 NA 0.587 NA 5.760644 1084 19 6709848 6709848 C T exonic C3 NA synonymous SNV C3:NM_000064:exon14:c.G1692A:p.V564V exonic ENSG00000125730 NA synonymous SNV ENSG00000125730:ENST00000245907:exon14:c.G1692A:p.V564V Score=407;Name=lod=60 NA 19p13.3 NA NA NA NA rs2230204 0.39 0.39 0.374 0.435304 0.2823 0.4613 0.3718 0.5477 0.4591 0.28 0.47 0.37 0.49 0.352 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.444705 NA NA 0.272326 0.532456 NA 0.348 NA 5.7600406 1084 5 149499672 149499672 T C exonic PDGFRB NA synonymous SNV PDGFRB:NM_002609:exon19:c.A2601G:p.L867L exonic ENSG00000113721 NA synonymous SNV ENSG00000113721:ENST00000261799:exon19:c.A2601G:p.L867L Score=478;Name=lod=117 NA 5q32 NA NA NA NA rs246395 0.23 0.23 0.215 0.236422 0.2903 0.1538 0.2997 0.1528 0.3344 0.3 0.15 0.29 0.16 0.2871 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082033 NA NA 0.329419 0.186564 ID=COSM149995;OCCURENCE=1(stomach) 0.217 NA 5.7598476 1084 1 112991698 112991698 T C exonic CTTNBP2NL NA synonymous SNV CTTNBP2NL:NM_018704:exon4:c.T234C:p.N78N exonic ENSG00000143079 NA synonymous SNV ENSG00000143079:ENST00000271277:exon4:c.T234C:p.N78N,ENSG00000143079:ENST00000441739:exon4:c.T234C:p.N78N Score=459;Name=lod=98 NA 1p13.2 Score=837;Name=V$GATA1_02 NA NA NA rs2256883 0.52 0.52 0.502 0.525359 0.66 0.4464 0.5692 0.3238 0.7096 0.65 0.46 0.59 0.36 0.5987 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.113621 NA NA 0.64814 0.385384 ID=COSM146582;OCCURENCE=1(stomach) 0.558 NA 5.7598266 1084 17 74286082 74286082 C T exonic QRICH2 NA synonymous SNV QRICH2:NM_032134:exon5:c.G3291A:p.E1097E exonic ENSG00000129646 NA synonymous SNV ENSG00000129646:ENST00000447564:exon2:c.G315A:p.E105E,ENSG00000129646:ENST00000262765:exon5:c.G3291A:p.E1097E Score=309;Name=lod=24 NA 17q25.1 NA NA NA NA rs4789273 0.44 0.44 0.47 0.453874 0.2753 0.5724 0.3055 0.6505 0.3548 0.26 0.58 0.29 0.67 0.3437 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 0.825003 NA NA 0.288023 0.613255 NA 0.399 NA 5.7596436 1084 19 44610665 44610665 A G exonic ZNF224 NA nonsynonymous SNV ZNF224:NM_013398:exon6:c.A352G:p.M118V exonic ENSG00000267680 NA nonsynonymous SNV ENSG00000267680:ENST00000591511:exon4:c.A352G:p.M118V,ENSG00000267680:ENST00000336976:exon6:c.A352G:p.M118V NA NA 19q13.31 NA NA NA NA rs2068061 0.79 0.79 0.818 0.788938 0.8797 0.5942 0.745 0.8767 0.8088 0.87 0.59 0.81 0.88 0.8237 0.88 0.57 T 0.0 B 0.0 B . . 1.000 P 0.895 L 3.48 T -1.049 T 0.000 T 0.015 -2.193 0.005 -0.821 -0.646 -1.460 7.317 -2.193079 NA 1 0.870465 0.865638 NA 0.884 NA 5.7594684 1084 X 40506697 40506697 A G exonic CXorf38 NA synonymous SNV CXorf38:NM_144970:exon1:c.T76C:p.L26L exonic ENSG00000185753 NA synonymous SNV ENSG00000185753:ENST00000327877:exon1:c.T76C:p.L26L,ENSG00000185753:ENST00000378418:exon1:c.T76C:p.L26L,ENSG00000185753:ENST00000440784:exon1:c.T76C:p.L26L Score=524;Name=lod=179 NA Xp11.4 NA Name=ETS1,HEY1,Pol2-4H8,NFKB,BCL3,HMGN3,ZEB1_(SC-25388),TAF1,Pol2(phosphoS2),Pol2,CCNT2,TBP,Mxi1_(bHLH),Sin3Ak-20,c-Myc,YY1_(C-20) NA NA rs6610447 0.97 0.97 0.97695 NA NA NA NA NA NA 0.93 1 0.96 0.99 0.9642 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.793693 1.793693 NA 0.943611 0.989471 ID=COSM1132306;OCCURENCE=1(prostate) 0.116 NA 5.7588556 1084 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 1084 17 79163649 79163649 G A intronic AZI1 NA NA NA exonic ENSG00000141577 NA unknown UNKNOWN NA NA 17q25.3 NA Name=CTCF_(SC-5916),CTCF,SMC3_(ab9263),Rad21 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 1084 9 17394536 17394536 C T exonic CNTLN NA nonsynonymous SNV CNTLN:NM_017738:exon15:c.C2084T:p.T695I exonic ENSG00000044459 NA nonsynonymous SNV ENSG00000044459:ENST00000262360:exon15:c.C2084T:p.T695I,ENSG00000044459:ENST00000380647:exon15:c.C2084T:p.T695I,ENSG00000044459:ENST00000425824:exon15:c.C2084T:p.T695I Score=395;Name=lod=54 NA 9p22.2 NA NA NA NA rs7035276 0.79 0.79 0.777 0.780551 0.8708 0.8313 0.8271 0.6725 0.7485 0.87 0.78 0.83 0.65 0.8284 0.88 0.27 T 0.0 B 0.0 B . . 0.711 P -1.5 N 2.57 T -1.041 T 0.000 T 0.017 -0.387 2.181 1.24 0.364 0.325 1.326 -0.387479 NA 0.68 0.8763 0.695053 NA 0.812 NA 5.7578334 1084 4 3227419 3227419 A G exonic HTT NA synonymous SNV HTT:NM_002111:exon57:c.A7797G:p.L2599L exonic ENSG00000197386 NA synonymous SNV ENSG00000197386:ENST00000355072:exon57:c.A7797G:p.L2599L Score=547;Name=lod=222 NA 4p16.3 NA NA NA NA rs362273 0.28 0.28 0.236 0.246406 0.3191 0.3393 0.304 0.1218 0.2035 0.33 0.34 0.32 0.12 0.2939 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.300754 1.300754 NA 0.296667 0.157738 ID=COSM1429434;OCCURENCE=1(large_intestine) 0.355 NA 5.7569996 1084 1 212870410 212870410 G A intronic BATF3 NA NA NA intronic ENSG00000123685 NA NA NA Score=625;Name=lod=463 NA 1q32.3 NA Name=ELF1_(SC-631) NA NA rs2233924 0.1 0.1 0.087 0.0982428 0.0845 0.1577 0.0259 0.1301 0.0593 0.09 0.13 0.03 0.15 0.0875 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.561147 1.561147 NA 0.071047 0.135043 NA 0.08 NA 5.756953 1084 16 88724347 88724347 G T exonic MVD NA synonymous SNV MVD:NM_002461:exon3:c.C232A:p.R78R exonic ENSG00000167508 NA synonymous SNV ENSG00000167508:ENST00000301012:exon3:c.C232A:p.R78R,ENSG00000167508:ENST00000568133:exon3:c.C232A:p.R78R,ENSG00000167508:ENST00000569177:exon3:c.C232A:p.R78R Score=259;Name=lod=15 NA 16q24.3 Score=760;Name=V$ROAZ_01 NA NA NA rs2279258 0.56 0.56 0.519 0.498403 0.6441 0.6438 0.7089 0.264 0.3661 0.65 0.61 0.67 0.3 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 -0.369949 NA NA 0.660037 0.336442 NA 0.341 NA 5.7567296 1084 18 33077660 33077660 A G intronic INO80C NA NA NA intronic ENSG00000153391,ENSG00000267140 NA NA NA Score=300;Name=lod=22 NA 18q12.2 NA Name=POU2F2,E2F6,GTF2B,E2F6_(H-50),Ini1,TAF7_(SQ-8),HA-E2F1,Pol2,Pol2(phosphoS2),USF-1,E2F1,HEY1,KAP1,ETS1,Pol2-4H8,TAF1,HMGN3,NRSF,Mxi1_(bHLH),PAX5-C20,Sin3Ak-20,SETDB1,THAP1_(SC-98174),E2F4,eGFP-JunD,Oct-2,c-Myc,Nrf1,Max,GTF2F1_(RAP-74),Pol2(b),TBP,CCNT2 Name=146 NA rs189576 0.4 0.4 0.376 0.376398 0.4334 0.5099 0.3674 0.1959 0.4305 0.43 0.57 0.38 0.19 0.4104 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.851735 1.851735 NA 0.400047 0.221237 NA 0.232 NA 5.756153 1084 17 80085703 80085703 G T exonic CCDC57 NA nonsynonymous SNV CCDC57:NM_198082:exon16:c.C2428A:p.Q810K exonic ENSG00000176155 NA nonsynonymous SNV ENSG00000176155:ENST00000392346:exon4:c.C502A:p.Q168K,ENSG00000176155:ENST00000392347:exon16:c.C2431A:p.Q811K,ENSG00000176155:ENST00000389641:exon17:c.C2431A:p.Q811K NA NA 17q25.3 NA NA NA NA rs7213172 0.41 0.41 0.4 0.419928 0.5169 0.1369 0.3746 0.5582 0.4571 0.53 0.14 0.41 0.55 0.4894 0.64 0.92 T 0.0 B 0.0 B 0.703 U 1.000 P 0 N 3.15 T -0.956 T 0.000 T 0.318 -0.829 0.6 0.67 -0.573 -0.165 6.172 -0.829224 NA 0.08 0.570911 0.639713 NA 0.457 NA 5.7561224 1084 6 32134656 32134656 T C ncRNA_intronic PPT2-EGFL8 NA NA NA intronic ENSG00000241404,ENSG00000258388 NA NA NA NA NA 6p21.32 NA Name=Rad21,CTCF,CTCF_(SC-5916) Name=8 NA rs3130347 0.14 0.14 0.14 0.148562 0.2008 0.0377 0.1009 0.1838 0.1953 0.2 0.04 0.09 0.21 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 0.004266 NA NA 0.212071 0.173395 NA 0.181 NA 5.7560623 1084 14 94391699 94391699 G A exonic FAM181A NA nonsynonymous SNV FAM181A:NM_138344:exon2:c.G82A:p.A28T exonic ENSG00000140067 NA nonsynonymous SNV ENSG00000140067:ENST00000267594:exon2:c.G82A:p.A28T NA NA 14q32.12 NA NA NA NA rs10141024 0.54 0.54 0.525 0.501797 0.5427 0.6409 0.3963 0.4327 0.4847 0.53 0.67 0.44 0.47 0.5038 0.67 0.2 T 0.0 B 0.0 B . . 1.000 P 0 N 1.34 T -0.980 T 0.000 T 0.032 1.03 9.206 -0.574 -0.170 0.410 4.632 1.029758 NA 0.49 0.530814 0.460508 ID=COSM1685477;OCCURENCE=1(skin) 0.536 NA 5.7560194 1084 4 186380515 186380515 G A exonic CCDC110 NA nonsynonymous SNV CCDC110:NM_001145411:exon5:c.C1115T:p.S372F,CCDC110:NM_152775:exon6:c.C1226T:p.S409F exonic ENSG00000168491 NA nonsynonymous SNV ENSG00000168491:ENST00000393540:exon5:c.C1115T:p.S372F,ENSG00000168491:ENST00000307588:exon6:c.C1226T:p.S409F,ENSG00000168491:ENST00000510617:exon6:c.C1226T:p.S409F NA NA 4q35.1 NA NA NA NA rs11132306 0.39 0.39 0.411 0.384385 0.5378 0.2837 0.3631 0.2784 0.4888 0.53 0.28 0.41 0.3 0.4753 0.56 0.75 T 0.0 B 0.0 B 0.980 N 1.000 P -1.7 N 3.31 T -0.972 T 0.000 T 0.048 -3.127 0.001 0.54 -0.122 -0.922 3.519 -3.126688 NA 0.36 0.564332 0.330458 NA 0.442 NA 5.7559014 1084 6 33638180 33638180 C T exonic ITPR3 NA synonymous SNV ITPR3:NM_002224:exon19:c.C2268T:p.G756G exonic ENSG00000096433 NA synonymous SNV ENSG00000096433:ENST00000605930:exon19:c.C2268T:p.G756G,ENSG00000096433:ENST00000374316:exon20:c.C2268T:p.G756G NA NA 6p21.31 Score=739;Name=V$LUN1_01 NA NA NA rs2229634 0.29 0.29 0.273 0.335463 0.2833 0.4722 0.281 0.1619 0.5215 0.28 0.42 0.27 0.17 0.3284 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.097964 NA NA 0.299302 0.182251 NA 0.326 NA 5.7556646 1084 1 247048834 247048834 T C exonic AHCTF1 NA nonsynonymous SNV AHCTF1:NM_015446:exon21:c.A2648G:p.N883S exonic ENSG00000153207 NA nonsynonymous SNV ENSG00000153207:ENST00000326225:exon21:c.A2648G:p.N883S,ENSG00000153207:ENST00000366508:exon21:c.A2726G:p.N909S,ENSG00000153207:ENST00000391829:exon21:c.A2621G:p.N874S NA NA 1q44 NA NA NA NA rs2642990 0.64 0.64 0.64 0.681709 0.5159 0.622 0.6311 0.9803 0.546 0.5 0.61 0.59 0.92 0.5662 0.92 1 T 0.0 B 0.001 B 0.262 N 1.000 P -1.1 N 1.05 T -0.992 T 0.000 T 0.003 -1.02 0.233 -0.677 -0.289 0.390 7.224 -1.019547 NA 0.36 0.495697 0.892873 NA 0.732 NA 5.7555364 1085 4 186379899 186379899 G C exonic CCDC110 NA nonsynonymous SNV CCDC110:NM_001145411:exon5:c.C1731G:p.I577M,CCDC110:NM_152775:exon6:c.C1842G:p.I614M exonic ENSG00000168491 NA nonsynonymous SNV ENSG00000168491:ENST00000393540:exon5:c.C1731G:p.I577M,ENSG00000168491:ENST00000307588:exon6:c.C1842G:p.I614M,ENSG00000168491:ENST00000510617:exon6:c.C1842G:p.I614M NA NA 4q35.1 NA NA NA NA rs35596415 0.39 0.39 0.39 0.384385 0.5378 0.2837 0.3631 0.2784 0.4888 0.53 0.28 0.41 0.3 0.4757 0.56 0.19 T 0.0 B 0.0 B 0.850 N 1.000 P -1.39 N 1.46 T -0.940 T 0.000 T 0.023 -1.545 0.015 0.793 -0.084 -0.419 7.083 -1.544608 NA 0.45 0.564959 0.330227 NA 0.449 NA 5.7548744 1085 21 33951068 33951068 T C exonic TCP10L NA nonsynonymous SNV TCP10L:NM_144659:exon4:c.A434G:p.H145R exonic ENSG00000242220,ENSG00000265590 NA nonsynonymous SNV ENSG00000242220:ENST00000300258:exon4:c.A434G:p.H145R NA NA 21q22.11 NA NA NA NA rs9622 0.22 0.22 0.188 0.218251 0.1928 0.2599 0.2133 0.2012 0.228 0.2 0.28 0.21 0.2 0.2039 0.28 1 T 0.0 B 0.0 B . . 1.000 P -0.97 N 1.94 T -0.948 T 0.000 T 0.051 -0.672 1.066 0.459 -0.405 -0.931 . -0.67153 NA 1 0.18186 0.201089 NA 0.203 NA 5.7547734 1085 11 72288599 72288599 G A exonic PDE2A NA synonymous SNV PDE2A:NM_001143839:exon30:c.C2634T:p.Y878Y,PDE2A:NM_001243784:exon31:c.C2592T:p.Y864Y,PDE2A:NM_002599:exon31:c.C2655T:p.Y885Y,PDE2A:NM_001146209:exon32:c.C2628T:p.Y876Y exonic ENSG00000186642 NA synonymous SNV ENSG00000186642:ENST00000376450:exon21:c.C1887T:p.Y629Y,ENSG00000186642:ENST00000418754:exon27:c.C2310T:p.Y770Y,ENSG00000186642:ENST00000544570:exon30:c.C2634T:p.Y878Y,ENSG00000186642:ENST00000334456:exon31:c.C2655T:p.Y885Y,ENSG00000186642:ENST00000444035:exon31:c.C2628T:p.Y876Y,ENSG00000186642:ENST00000540345:exon32:c.C2628T:p.Y876Y Score=456;Name=lod=95 NA 11q13.4 NA NA NA NA rs1980091 0.27 0.27 0.283 0.286542 0.3082 0.2758 0.245 0.2526 0.3507 0.32 0.26 0.24 0.25 0.2992 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.132253 NA NA 0.304682 0.268636 ID=COSM1179752;OCCURENCE=1(prostate) 0.217 NA 5.7545846 1085 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 1085 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=HMGN3,ZBTB7A_(SC-34508) 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 1085 19 44610798 44610798 A T exonic ZNF224 NA nonsynonymous SNV ZNF224:NM_013398:exon6:c.A485T:p.H162L exonic ENSG00000267680 NA nonsynonymous SNV ENSG00000267680:ENST00000336976:exon6:c.A485T:p.H162L NA NA 19q13.31 NA NA NA NA rs4239529 0.8 0.8 0.811 0.800919 0.8797 0.6151 0.7522 0.9017 0.8098 0.87 0.62 0.8 0.89 0.8288 0.89 0.67 T 0.0 B 0.0 B . . 1.000 P 1.205 L 2.47 T -1.002 T 0.000 T 0.021 0.437 6.374 -1.7 -0.740 -1.077 5.012 0.437044 NA 0.42 0.871047 0.887653 ID=COSM1394390;OCCURENCE=1(large_intestine) 0.877 NA 5.7537864 1085 16 30770950 30770950 T C UTR3 PHKG2 NM_000294:c.*2532T>C NA NA exonic ENSG00000196118 NA nonsynonymous SNV ENSG00000196118:ENST00000541260:exon5:c.A565G:p.K189E NA NA 16p11.2 NA Name=Pol2-4H8 NA NA rs62622830 0.1 0.1 0.1 0.0834665 0.2187 0.001 0.1427 0.0219 0.0706 0.21 NA 0.16 0.03 0.1473 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.600915 1.600915 NA 0.213605 0.043468 NA 0.239 NA 5.7537284 1085 17 80085633 80085633 A G exonic CCDC57 NA nonsynonymous SNV CCDC57:NM_198082:exon16:c.T2498C:p.M833T exonic ENSG00000176155 NA nonsynonymous SNV ENSG00000176155:ENST00000583593:exon1:c.T62C:p.M21T,ENSG00000176155:ENST00000392346:exon4:c.T572C:p.M191T,ENSG00000176155:ENST00000392347:exon16:c.T2501C:p.M834T,ENSG00000176155:ENST00000389641:exon17:c.T2501C:p.M834T NA NA 17q25.3 NA NA NA NA rs11077969 0.4 0.4 0.388 0.421725 0.5169 0.1369 0.3746 0.5613 0.4622 0.53 0.14 0.41 0.5 0.4909 0.6 1 T 0.0 B 0.0 B 0.884 N 1.000 P -0.55 N 3.35 T -0.946 T 0.000 T 0.583 -1.674 0.012 0.854 0.071 0.313 6.574 -1.673956 NA 0.03 0.571961 0.600349 ID=COSM437822,COSM437821;OCCURENCE=1(breast) 0.464 NA 5.7535724 1085 5 171849471 171849471 G A exonic SH3PXD2B NA synonymous SNV SH3PXD2B:NM_001017995:exon2:c.C105T:p.S35S exonic ENSG00000174705 NA synonymous SNV ENSG00000174705:ENST00000311601:exon2:c.C105T:p.S35S,ENSG00000174705:ENST00000519643:exon2:c.C105T:p.S35S NA NA 5q35.1 Score=891;Name=V$MYCMAX_03 NA NA NA rs17074773 0.38 0.38 0.371 0.374601 0.2783 0.6617 0.4179 0.2171 0.3599 0.28 0.63 0.35 0.25 0.3613 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134052 NA NA 0.273721 0.236496 NA 0.29 NA 5.7533456 1085 11 5510497 5510497 T C exonic OR52D1 NA synonymous SNV OR52D1:NM_001005163:exon1:c.T561C:p.I187I exonic ENSG00000181609 NA synonymous SNV ENSG00000181609:ENST00000322641:exon1:c.T561C:p.I187I Score=456;Name=lod=95 NA 11p15.4 Score=802;Name=V$AHRARNT_02 Name=Pol2(b) NA NA rs2467219 0.94 0.94 0.931 0.948283 0.9742 0.9246 0.9712 0.9107 0.9806 0.97 0.91 0.97 0.88 0.9689 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 0.697622 NA NA 0.970328 0.938437 NA 0.906 NA 5.7532386 1085 6 30708955 30708955 C T intronic FLOT1 NA NA NA intronic ENSG00000137312 NA NA NA NA NA 6p21.33 NA Name=CTCF Name=21 NA rs1059612 0.04 0.04 0.04 0.0223642 0.0795 NA 0.0231 0.0121 NA 0.09 NA 0.03 0.02 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 -0.686873 NA NA 0.107275 0.034745 NA 0.094 NA 5.753025 1085 5 148407708 148407708 A C exonic SH3TC2 NA synonymous SNV SH3TC2:NM_024577:exon11:c.T1587G:p.R529R exonic ENSG00000169247 NA synonymous SNV ENSG00000169247:ENST00000538184:exon7:c.T228G:p.R76R,ENSG00000169247:ENST00000504690:exon11:c.T1587G:p.R529R,ENSG00000169247:ENST00000512049:exon11:c.T1566G:p.R522R,ENSG00000169247:ENST00000515425:exon11:c.T1587G:p.R529R,ENSG00000169247:ENST00000394358:exon12:c.T1242G:p.R414R Score=515;Name=lod=165 NA 5q32 Score=707;Name=V$P53_01 NA NA NA rs1432794 0.99 0.99 0.992 0.990615 0.9662 0.999 0.9914 0.9992 0.9949 0.97 1 0.99 1 0.9785 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.569369 NA NA 0.96907 0.994553 NA 0.949 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118336.2;CLNDSDB=.;CLNDSDBID=. 5.7528966 1085 12 54109733 54109733 A G exonic CALCOCO1 NA synonymous SNV CALCOCO1:NM_001143682:exon8:c.T849C:p.S283S,CALCOCO1:NM_020898:exon9:c.T1104C:p.S368S exonic ENSG00000012822 NA synonymous SNV ENSG00000012822:ENST00000430117:exon8:c.T849C:p.S283S,ENSG00000012822:ENST00000262059:exon9:c.T1104C:p.S368S,ENSG00000012822:ENST00000548263:exon9:c.T1104C:p.S368S,ENSG00000012822:ENST00000550804:exon9:c.T1104C:p.S368S Score=459;Name=lod=98 NA 12q13.13 NA NA NA NA rs3741658 0.4 0.4 0.409 0.420327 0.3042 0.5288 0.3674 0.4213 0.4642 0.28 0.53 0.35 0.45 0.346 0.53 NA NA 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 0.263605 0.409669 NA 0.442 NA 5.7528616 1085 17 37243927 37243927 A G exonic PLXDC1 NA synonymous SNV PLXDC1:NM_020405:exon8:c.T840C:p.Y280Y exonic ENSG00000161381 NA synonymous SNV ENSG00000161381:ENST00000579279:exon3:c.T210C:p.Y70Y,ENSG00000161381:ENST00000444911:exon7:c.T720C:p.Y240Y,ENSG00000161381:ENST00000315392:exon8:c.T840C:p.Y280Y,ENSG00000161381:ENST00000394316:exon8:c.T840C:p.Y280Y,ENSG00000161381:ENST00000441877:exon8:c.T621C:p.Y207Y,ENSG00000161381:ENST00000539608:exon8:c.T621C:p.Y207Y,ENSG00000161381:ENST00000578390:exon8:c.T840C:p.Y280Y Score=533;Name=lod=196 NA 17q12 NA NA NA NA rs12602945 0.28 0.28 0.253 0.291334 0.3032 0.3492 0.4496 0.1067 0.3569 0.3 0.32 0.38 0.14 0.3175 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.959668 NA NA 0.293372 0.144349 ID=COSM1162592;OCCURENCE=1(pancreas) 0.239 NA 5.7525946 1085 X 153039502 153039502 G C exonic PLXNB3 NA nonsynonymous SNV PLXNB3:NM_005393:exon20:c.G3468C:p.E1156D,PLXNB3:NM_001163257:exon21:c.G3537C:p.E1179D exonic ENSG00000198753 NA nonsynonymous SNV ENSG00000198753:ENST00000538282:exon17:c.G2298C:p.E766D,ENSG00000198753:ENST00000538776:exon19:c.G2427C:p.E809D,ENSG00000198753:ENST00000361971:exon20:c.G3468C:p.E1156D,ENSG00000198753:ENST00000538966:exon21:c.G3537C:p.E1179D NA NA Xq28 NA NA NA NA rs6643791 0.78 0.78 0.75994 NA NA NA NA NA NA 0.8 0.77 0.82 0.73 0.7922 0.82 0.23 T 0.005 B 0.018 B 0.001 N 0.871 P 1.035 L 5.2 T -1.002 T 0.000 T 0.042 0.048 4.265 -0.654 -0.245 -0.444 0.874 0.048215 NA 0.08 0.788711 0.686427 NA 0.565 NA 5.7524224 1085 4 53740236 53740236 C T intronic SCFD2 NA NA NA intronic ENSG00000184178 NA NA NA NA NA 4q12 NA Name=YY1_(C-20),SP1,RXRA,NANOG_(SC-33759),JunD,POU5F1_(SC-9081),TCF12,p300,HDAC2_(SC-6296),BCL11A Name=28 NA rs2306601 0.15 0.15 0.146 0.141374 0.0716 0.2679 0.072 0.1649 0.1002 0.07 0.25 0.1 0.2 0.0969 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.418669 NA NA 0.079419 0.140944 ID=COSM149672;OCCURENCE=1(stomach) 0.123 NA 5.752081 1085 16 53283966 53283966 G A exonic CHD9 NA synonymous SNV CHD9:NM_025134:exon17:c.G3849A:p.Q1283Q exonic ENSG00000177200 NA synonymous SNV ENSG00000177200:ENST00000398510:exon16:c.G3849A:p.Q1283Q,ENSG00000177200:ENST00000565803:exon16:c.G2427A:p.Q809Q,ENSG00000177200:ENST00000447540:exon17:c.G3849A:p.Q1283Q,ENSG00000177200:ENST00000564845:exon17:c.G3849A:p.Q1283Q,ENSG00000177200:ENST00000566029:exon17:c.G3849A:p.Q1283Q Score=648;Name=lod=575 NA 16q12.2 NA NA NA NA rs8052283 0.3 0.3 0.292 0.304712 0.2962 0.247 0.1902 0.3699 0.3661 0.3 0.26 0.23 0.38 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 0.083355 NA NA 0.314296 0.334797 NA 0.319 NA 5.7517706 1085 11 65631973 65631973 G A exonic MUS81 NA synonymous SNV MUS81:NM_025128:exon11:c.G1065A:p.R355R exonic ENSG00000172732 NA synonymous SNV ENSG00000172732:ENST00000308110:exon11:c.G1065A:p.R355R,ENSG00000172732:ENST00000533035:exon11:c.G840A:p.R280R Score=493;Name=lod=134 NA 11q13.1 NA NA NA NA rs630303 0.45 0.45 0.467 0.429912 0.668 0.3323 0.4063 0.208 0.6022 0.67 0.3 0.49 0.25 0.5793 0.67 . . . . . . . . 0.000 P . . . . -0.943 T 0.000 T . -0.321 2.473 -0.587 -0.290 -0.241 9.883 -0.321494 NA 0 0.667947 0.263062 ID=COSM1179750;OCCURENCE=1(prostate) 0.478 NA 5.7514196 1085 17 56386118 56386118 A G exonic BZRAP1 NA synonymous SNV BZRAP1:NM_024418:exon21:c.T4335C:p.D1445D,BZRAP1:NM_001261835:exon22:c.T4515C:p.D1505D,BZRAP1:NM_004758:exon22:c.T4515C:p.D1505D exonic ENSG00000005379 NA synonymous SNV ENSG00000005379:ENST00000268893:exon21:c.T4335C:p.D1445D,ENSG00000005379:ENST00000343736:exon22:c.T4515C:p.D1505D,ENSG00000005379:ENST00000355701:exon22:c.T4515C:p.D1505D Score=492;Name=lod=133 NA 17q22 NA NA NA NA rs2680689 0.29 0.29 0.255 0.283946 0.332 0.25 0.2738 0.3086 0.2434 0.32 0.25 0.3 0.29 0.2865 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085163 NA NA 0.297383 0.295704 ID=COSM436987,COSM436986;OCCURENCE=2(breast) 0.42 NA 5.7507836 1085 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 1085 1 17380497 17380497 G T exonic SDHB NA synonymous SNV SDHB:NM_003000:exon1:c.C18A:p.A6A exonic ENSG00000117118 NA synonymous SNV ENSG00000117118:ENST00000375499:exon1:c.C18A:p.A6A Score=488;Name=lod=128 NA 1p36.13 NA Name=Pol2-4H8,YY1,CCNT2,NFKB,TR4,RFX5_(N-494),HMGN3,ELK4,Pol2(b),c-Jun,TAF1,JunD,HEY1,CHD2_(N-1250),Pol2(phosphoS2),YY1_(C-20),Pol2,TAF7_(SQ-8),eGFP-JunD,E2F4,p300,HDAC2_(SC-6296),Sin3Ak-20 NA NA rs2746462 0.95 0.95 0.932 0.957069 0.9722 0.996 0.9769 0.8797 0.9918 0.96 0.99 0.97 0.87 0.9721 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 -0.295487 NA NA 0.973017 0.909401 NA 0.949 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000037717.2;CLNDSDB=.;CLNDSDBID=. 5.7493496 1085 12 66698895 66698895 T C exonic HELB NA nonsynonymous SNV HELB:NM_033647:exon2:c.T572C:p.L191P exonic ENSG00000127311 NA nonsynonymous SNV ENSG00000127311:ENST00000247815:exon2:c.T572C:p.L191P,ENSG00000127311:ENST00000440906:exon2:c.T572C:p.L191P,ENSG00000127311:ENST00000542394:exon2:c.T572C:p.L191P,ENSG00000127311:ENST00000545134:exon2:c.T572C:p.L191P NA NA 12q14.3 NA NA NA NA rs4430553 0.47 0.47 0.494 0.498203 0.5358 0.3304 0.3761 0.68 0.4734 0.53 0.32 0.39 0.61 0.5009 0.63 . . 0.0 B 0.0 B 0.535 N 1.000 P -1.355 N 2.63 T -1.004 T 0.000 T 0.081 1.028 9.2 1.97 0.238 0.143 3.630 1.028122 NA 0.15 0.547907 0.631412 NA 0.486 NA 5.7487264 1085 4 119951647 119951647 A G exonic SYNPO2 NA nonsynonymous SNV SYNPO2:NM_001128933:exon4:c.A1717G:p.T573A,SYNPO2:NM_001128934:exon4:c.A1717G:p.T573A,SYNPO2:NM_133477:exon4:c.A1717G:p.T573A exonic ENSG00000172403 NA nonsynonymous SNV ENSG00000172403:ENST00000307142:exon4:c.A1717G:p.T573A,ENSG00000172403:ENST00000429713:exon4:c.A1717G:p.T573A,ENSG00000172403:ENST00000434046:exon4:c.A1717G:p.T573A NA NA 4q26 NA NA Name=2 NA rs7698598 0.85 0.85 0.833 0.843251 0.8668 0.873 0.8963 0.8064 0.8006 0.87 0.85 0.89 0.8 0.8485 0.89 . . 0.0 B 0.0 B 0.682 N 1.000 P -1.15 N 1.06 T -1.021 T 0.000 T 0.144 -3.227 0.001 1.88 -0.055 0.696 3.138 -3.226984 NA 1 0.869535 0.820245 NA 0.899 NA 5.7484984 1085 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 1085 5 153029960 153029960 T C exonic GRIA1 NA synonymous SNV GRIA1:NM_001258019:exon3:c.T291C:p.I97I,GRIA1:NM_000827:exon4:c.T531C:p.I177I,GRIA1:NM_001114183:exon4:c.T531C:p.I177I,GRIA1:NM_001258021:exon4:c.T561C:p.I187I,GRIA1:NM_001258022:exon4:c.T561C:p.I187I,GRIA1:NM_001258023:exon4:c.T324C:p.I108I,GRIA1:NM_001258020:exon5:c.T246C:p.I82I exonic ENSG00000155511 NA synonymous SNV ENSG00000155511:ENST00000518142:exon3:c.T291C:p.I97I,ENSG00000155511:ENST00000285900:exon4:c.T531C:p.I177I,ENSG00000155511:ENST00000340592:exon4:c.T531C:p.I177I,ENSG00000155511:ENST00000448073:exon4:c.T561C:p.I187I,ENSG00000155511:ENST00000518783:exon4:c.T561C:p.I187I,ENSG00000155511:ENST00000521843:exon4:c.T324C:p.I108I Score=562;Name=lod=256 NA 5q33.2 NA NA NA NA rs707176 0.18 0.18 0.16 0.155152 0.3221 0.0198 0.2839 0.0976 0.1094 0.32 0.02 0.29 0.09 0.2598 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.553678 1.553678 NA 0.336744 0.147753 NA 0.254 NA 5.7480226 1085 5 79952154 79952154 G A intronic MSH3 NA NA NA intronic ENSG00000113318 NA NA NA Score=278;Name=lod=18 NA 5q14.1 NA NA Name=3 NA rs1382539 0.21 0.21 0.186 0.230631 0.2525 0.0565 0.2061 0.2821 0.3354 0.25 0.05 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 3.660066 3.660066 NA NA NA NA 0.225 NA 5.7475 1085 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 1085 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 1085 20 3204084 3204084 G A exonic ITPA NA synonymous SNV ITPA:NM_001267623:exon6:c.G438A:p.E146E,ITPA:NM_033453:exon8:c.G561A:p.E187E,ITPA:NM_181493:exon8:c.G510A:p.E170E exonic ENSG00000125877 NA synonymous SNV ENSG00000125877:ENST00000399838:exon6:c.G438A:p.E146E,ENSG00000125877:ENST00000380113:exon8:c.G561A:p.E187E,ENSG00000125877:ENST00000455664:exon8:c.G510A:p.E170E NA NA 20p13 NA NA Name=2 NA rs9101 0.32 0.32 0.307 0.340455 0.3091 0.5089 0.2781 0.0832 0.591 0.32 0.52 0.29 0.1 0.3257 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.197107 NA NA 0.285814 0.112347 ID=COSM443663;OCCURENCE=1(breast) 0.217 NA 5.7460526 1085 19 21477431 21477431 T C exonic ZNF708 NA nonsynonymous SNV ZNF708:NM_021269:exon4:c.A337G:p.K113E exonic ENSG00000182141 NA nonsynonymous SNV ENSG00000182141:ENST00000601295:exon3:c.A145G:p.K49E,ENSG00000182141:ENST00000356929:exon4:c.A337G:p.K113E,ENSG00000182141:ENST00000602023:exon4:c.A109G:p.K37E NA NA 19p12 NA NA NA NA rs1781873 0.61 0.61 0.612 0.621006 0.5089 0.629 0.562 0.7436 0.6043 0.5 0.66 0.57 0.75 0.5569 0.75 0.5 T 0.004 B 0.008 B . . 1.000 P 0.13 N 3.33 T -1.073 T 0.000 T 0.058 -0.728 0.884 -0.564 -0.428 -0.330 3.212 -0.727862 NA 0.4 0.521628 0.705856 NA 0.478 NA 5.7459054 1085 4 23830238 23830238 A G intronic PPARGC1A NA NA NA intronic ENSG00000109819 NA NA NA Score=635;Name=lod=510 NA 4p15.2 Score=927;Name=V$FOXO4_01 NA NA NA rs2290604 0.12 0.12 0.109 0.117013 0.0855 0.1865 0.121 0.056 0.1575 0.09 0.2 0.13 0.07 0.0977 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.694021 1.694021 NA 0.07093 0.054244 NA 0.109 NA 5.74587 1085 1 29542637 29542637 A G exonic MECR NA nonsynonymous SNV MECR:NM_001024732:exon3:c.T58C:p.F20L,MECR:NM_016011:exon3:c.T286C:p.F96L exonic ENSG00000116353 NA nonsynonymous SNV ENSG00000116353:ENST00000263702:exon3:c.T286C:p.F96L,ENSG00000116353:ENST00000373791:exon3:c.T58C:p.F20L Score=524;Name=lod=179 NA 1p35.3 NA NA NA NA rs1128400 0.74 0.74 0.735 0.718051 0.8797 0.5625 0.7334 0.7231 0.6943 0.88 0.54 0.77 0.73 0.8168 0.89 0.65 T 0.0 B 0.0 B 0.000 N 1.000 P -0.38 N 1.01 T -1.017 T 0.000 T 0.016 0.16 4.859 1.39 0.052 0.287 4.877 0.159742 NA 0.44 0.891395 0.765774 NA 0.732 NA 5.7454384 1085 5 153432970 153432970 C T exonic MFAP3 NA synonymous SNV MFAP3:NM_001135037:exon2:c.C348T:p.D116D,MFAP3:NM_001242336:exon3:c.C786T:p.D262D,MFAP3:NM_005927:exon3:c.C786T:p.D262D exonic ENSG00000037749 NA synonymous SNV ENSG00000037749:ENST00000439768:exon2:c.C348T:p.D116D,ENSG00000037749:ENST00000322602:exon3:c.C786T:p.D262D,ENSG00000037749:ENST00000436816:exon3:c.C786T:p.D262D Score=589;Name=lod=330 NA 5q33.2 Score=891;Name=V$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 1085 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 1086 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$CDPCR3HD_01 NA NA NA rs2578386 0.71 0.71 0.689 0.715256 0.6252 0.8581 0.7161 0.6218 0.7863 0.64 0.87 0.67 0.64 0.6745 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049561 NA NA 0.621977 0.648207 NA 0.674 NA 5.7449896 1086 19 4431896 4431896 C T intronic CHAF1A NA NA NA intronic ENSG00000167670 NA NA NA NA NA 19p13.3 NA Name=EBF1_(C-8) Name=10 NA rs243371 0.4 0.4 0.376 0.396565 0.2555 0.6002 0.415 0.3457 0.3875 0.26 0.61 0.41 0.36 NA 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.480302 NA NA NA NA NA 0.283 NA 5.7445 1086 12 47471439 47471439 G A exonic AMIGO2 NA synonymous SNV AMIGO2:NM_181847:exon2:c.C1347T:p.P449P,AMIGO2:NM_001143668:exon3:c.C1347T:p.P449P exonic ENSG00000139211 NA synonymous SNV ENSG00000139211:ENST00000266581:exon2:c.C1347T:p.P449P,ENSG00000139211:ENST00000321382:exon2:c.C1347T:p.P449P,ENSG00000139211:ENST00000429635:exon3:c.C1347T:p.P449P,ENSG00000139211:ENST00000550413:exon3:c.C1347T:p.P449P NA NA 12q13.11 NA Name=Pol2 NA NA rs2269828 0.22 0.22 0.204 0.221645 0.3211 0.124 0.2882 0.1346 0.2904 0.31 0.13 0.29 0.12 0.277 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.176577 NA NA 0.324186 0.171584 NA 0.268 NA 5.7443806 1086 3 42251329 42251329 C T exonic TRAK1 NA synonymous SNV TRAK1:NM_001265609:exon13:c.C1593T:p.P531P,TRAK1:NM_014965:exon13:c.C1641T:p.P547P,TRAK1:NM_001042646:exon14:c.C1815T:p.P605P,TRAK1:NM_001265608:exon14:c.C1815T:p.P605P exonic ENSG00000182606 NA synonymous SNV ENSG00000182606:ENST00000341421:exon13:c.C1641T:p.P547P,ENSG00000182606:ENST00000396175:exon13:c.C1641T:p.P547P,ENSG00000182606:ENST00000327628:exon14:c.C1815T:p.P605P NA NA 3p22.1 Score=811;Name=V$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 1086 10 5804531 5804531 G A exonic FAM208B NA nonsynonymous SNV FAM208B:NM_017782:exon20:c.G7211A:p.S2404N exonic ENSG00000108021 NA nonsynonymous SNV ENSG00000108021:ENST00000328090:exon20:c.G7211A:p.S2404N Score=548;Name=lod=225 NA 10p15.1 NA NA NA NA rs2797501 0.86 0.86 0.844 0.854034 0.8718 0.8204 0.9063 0.8737 0.8067 0.87 0.81 0.89 0.88 0.8584 0.89 1 T 0.034 B 0.017 B 0.040 N 1.000 P 0.145 N 3.75 T -0.989 T 0.000 T 0.018 0.806 8.235 -0.384 -0.078 0.198 6.046 0.8056 NA 1 0.85919 0.860302 NA 0.761 NA 5.7439434 1086 5 140174622 140174622 G A exonic PCDHA2 NA nonsynonymous SNV PCDHA2:NM_018905:exon1:c.G73A:p.E25K,PCDHA2:NM_031495:exon1:c.G73A:p.E25K exonic ENSG00000204969 NA nonsynonymous SNV ENSG00000204969:ENST00000378132:exon1:c.G73A:p.E25K,ENSG00000204969:ENST00000520672:exon1:c.G73A:p.E25K,ENSG00000204969:ENST00000526136:exon1:c.G73A:p.E25K NA NA 5q31.3 NA NA NA NA rs9686540 0.53 0.53 0.458 0.526158 0.5378 0.5317 0.5908 0.4811 0.5235 0.54 0.54 0.54 0.51 0.5257 0.54 0.16 T 0.019 B 0.03 B 0.600 U 0.989 P 0.95 L 0.78 T -0.930 T 0.000 T 0.121 0.349 5.895 -0.127 -0.144 0.314 2.366 0.349276 NA 0.21 0.526047 0.493415 NA 0.486 NA 5.7437864 1086 17 7942901 7942901 C G exonic ALOX15B NA synonymous SNV ALOX15B:NM_001039130:exon2:c.C345G:p.T115T,ALOX15B:NM_001039131:exon2:c.C345G:p.T115T,ALOX15B:NM_001141:exon2:c.C345G:p.T115T exonic ENSG00000179593 NA synonymous SNV ENSG00000179593:ENST00000380173:exon2:c.C345G:p.T115T,ENSG00000179593:ENST00000380183:exon2:c.C345G:p.T115T,ENSG00000179593:ENST00000572022:exon2:c.C345G:p.T115T,ENSG00000179593:ENST00000573359:exon2:c.C345G:p.T115T NA NA 17p13.1 NA NA Name=3 NA rs76589243 0.31 0.31 0.29 0.263578 0.3598 0.3859 0.2608 0.1445 0.2014 0.37 0.37 0.31 0.15 0.3009 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.823277 NA NA 0.262427 0.139133 NA 0.159 NA 5.7435396 1086 1 32158374 32158374 T C exonic COL16A1 NA synonymous SNV COL16A1:NM_001856:exon14:c.A1107G:p.P369P exonic ENSG00000084636 NA synonymous SNV ENSG00000084636:ENST00000373667:exon6:c.A264G:p.P88P,ENSG00000084636:ENST00000271069:exon14:c.A1107G:p.P369P,ENSG00000084636:ENST00000373668:exon14:c.A1107G:p.P369P,ENSG00000084636:ENST00000373672:exon14:c.A1107G:p.P369P Score=472;Name=lod=110 NA 1p35.2 Score=868;Name=V$ATF6_01 NA NA NA rs3818788 0.58 0.58 0.578 0.630391 0.6491 0.3581 0.6816 0.7663 0.6718 0.64 0.32 0.65 0.75 0.633 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.92891 NA NA 0.641665 0.733704 NA 0.63 NA 5.7429016 1086 3 151056616 151056616 G A exonic P2RY12 NA synonymous SNV P2RY12:NM_176876:exon2:c.C18T:p.N6N,P2RY12:NM_022788:exon3:c.C18T:p.N6N exonic ENSG00000169313 NA synonymous SNV ENSG00000169313:ENST00000302632:exon3:c.C18T:p.N6N Score=278;Name=lod=18 NA 3q25.1 NA NA NA NA rs6785930 0.26 0.26 0.255 0.241813 0.3151 0.2113 0.2781 0.1672 0.273 0.31 0.23 0.3 0.21 0.293 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064212 NA NA 0.316395 0.189741 NA 0.341 NA 5.7421716 1086 22 38369976 38369976 A G exonic SOX10 NA synonymous SNV SOX10:NM_006941:exon4:c.T927C:p.H309H exonic ENSG00000100146 NA synonymous SNV ENSG00000100146:ENST00000396884:exon4:c.T927C:p.H309H,ENSG00000100146:ENST00000360880:exon5:c.T927C:p.H309H Score=588;Name=lod=327 NA 22q13.1 Score=922;Name=V$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 1086 1 155026942 155026942 A C exonic ADAM15 NA nonsynonymous SNV ADAM15:NM_001261464:exon6:c.A602C:p.K201T,ADAM15:NM_001261465:exon6:c.A572C:p.K191T,ADAM15:NM_001261466:exon6:c.A524C:p.K175T,ADAM15:NM_003815:exon6:c.A572C:p.K191T,ADAM15:NM_207191:exon6:c.A572C:p.K191T,ADAM15:NM_207194:exon6:c.A572C:p.K191T,ADAM15:NM_207195:exon6:c.A572C:p.K191T,ADAM15:NM_207196:exon6:c.A572C:p.K191T,ADAM15:NM_207197:exon6:c.A572C:p.K191T exonic ENSG00000143537 NA nonsynonymous SNV ENSG00000143537:ENST00000271836:exon6:c.A572C:p.K191T,ENSG00000143537:ENST00000355956:exon6:c.A572C:p.K191T,ENSG00000143537:ENST00000356955:exon6:c.A572C:p.K191T,ENSG00000143537:ENST00000359280:exon6:c.A572C:p.K191T,ENSG00000143537:ENST00000360674:exon6:c.A572C:p.K191T,ENSG00000143537:ENST00000368412:exon6:c.A572C:p.K191T,ENSG00000143537:ENST00000447332:exon6:c.A524C:p.K175T,ENSG00000143537:ENST00000449910:exon6:c.A572C:p.K191T,ENSG00000143537:ENST00000526491:exon6:c.A572C:p.K191T,ENSG00000143537:ENST00000529473:exon6:c.A572C:p.K191T,ENSG00000143537:ENST00000531455:exon6:c.A602C:p.K201T NA NA 1q22 NA NA NA NA rs6427128 0.9 0.9 0.891 0.901957 0.8439 0.9901 0.9308 0.8676 0.8967 0.84 1 0.9 0.88 0.8881 1 0.61 T 0.0 B 0.001 B 0.465 N 1.000 P -0.345 N 5.66 T -1.055 T 0.001 T 0.06 -0.065 3.681 3.24 0.348 -0.148 4.377 -0.065431 NA 0.57 0.859419 0.897413 NA 0.862 NA 5.7419144 1086 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 1086 4 121738049 121738049 T C exonic PRDM5 NA synonymous SNV PRDM5:NM_018699:exon6:c.A681G:p.L227L exonic ENSG00000138738 NA synonymous SNV ENSG00000138738:ENST00000264808:exon6:c.A681G:p.L227L NA NA 4q27 NA NA Name=8 NA rs343192 0.32 0.32 0.3 0.27496 0.3191 0.3562 0.3948 0.2057 0.1544 0.31 0.38 0.36 0.23 0.2912 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.174106 NA NA 0.315233 0.214934 NA 0.246 NA 5.7411336 1086 16 4386814 4386814 T C exonic GLIS2 NA synonymous SNV GLIS2:NM_032575:exon6:c.T864C:p.Y288Y exonic ENSG00000126603 NA synonymous SNV ENSG00000126603:ENST00000433375:exon6:c.T864C:p.Y288Y,ENSG00000126603:ENST00000262366:exon8:c.T864C:p.Y288Y Score=590;Name=lod=332 NA 16p13.3 Score=941;Name=V$HOXA3_01 NA NA NA rs669561 0.99 0.99 0.986 0.991214 0.9801 1 0.9813 1 0.9888 0.98 1 0.98 1 0.9796 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.05091 2.05091 NA 0.966155 0.992262 NA 0.833 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082303.1;CLNDSDB=.;CLNDSDBID=. 5.7408116 1086 8 17500119 17500119 C T intronic PDGFRL NA NA NA intronic ENSG00000104213 NA NA NA Score=399;Name=lod=56 NA 8p22 NA NA Name=2 NA rs17633132 0.12 0.12 0.11 0.1248 0.0746 0.131 0.2147 0.0946 0.1472 0.09 0.13 0.19 0.11 0.103 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 1.684238 1.684238 NA 0.081744 0.082842 NA 0.159 NA 5.740656 1086 1 197094030 197094030 C T exonic ASPM NA synonymous SNV ASPM:NM_001206846:exon12:c.G3138A:p.R1046R,ASPM:NM_018136:exon12:c.G3138A:p.R1046R exonic ENSG00000066279 NA synonymous SNV ENSG00000066279:ENST00000367408:exon8:c.G888A:p.R296R,ENSG00000066279:ENST00000294732:exon12:c.G3138A:p.R1046R,ENSG00000066279:ENST00000367409:exon12:c.G3138A:p.R1046R NA NA 1q31.3 NA NA NA NA rs6676084 0.24 0.24 0.229 0.216653 0.328 0.1488 0.2147 0.1324 0.2873 0.34 0.16 0.27 0.14 0.2801 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.704662 NA NA 0.318097 0.157059 NA 0.181 CLINSIG=non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_5;CLNREVSTAT=single;CLNACC=RCV000020763.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK9587:C1837501:608716:ORPHA2512 5.7404696 1086 16 81181097 81181097 G T exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN Score=395;Name=lod=54 NA 16q23.2 NA NA NA NA rs7192948 0.13 0.13 0.099 0.151158 0.0726 0.2133 0.1974 0.0787 0.2331 0.07 0.22 0.15 0.09 0.1219 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.818849 1.818849 NA 0.065259 0.063803 NA 0.109 NA 5.740241 1086 1 95709939 95709939 T G exonic RWDD3 NA nonsynonymous SNV RWDD3:NM_001128142:exon2:c.T258G:p.N86K,RWDD3:NM_001199682:exon2:c.T258G:p.N86K,RWDD3:NM_015485:exon2:c.T258G:p.N86K exonic ENSG00000122481 NA nonsynonymous SNV ENSG00000122481:ENST00000263893:exon2:c.T258G:p.N86K,ENSG00000122481:ENST00000370202:exon2:c.T258G:p.N86K,ENSG00000122481:ENST00000429514:exon3:c.T213G:p.N71K NA NA 1p21.3 NA NA NA NA rs2296308 0.8 0.8 0.798 0.817292 0.8728 0.8036 0.8487 0.6823 0.9346 0.88 0.79 0.86 0.66 0.8548 0.88 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.47 N 2.14 T -0.999 T 0.002 T 0.032 -2.768 0 -1.54 -1.171 -0.125 9.064 -2.767853 NA 1 0.865556 0.722424 NA 0.826 NA 5.7401774 1086 1 205272983 205272983 C G exonic NUAK2 NA synonymous SNV NUAK2:NM_030952:exon7:c.G1482C:p.L494L exonic ENSG00000163545 NA synonymous SNV ENSG00000163545:ENST00000367157:exon7:c.G1482C:p.L494L Score=278;Name=lod=18 NA 1q32.1 NA NA NA NA rs1106202 0.32 0.32 0.286 0.322484 0.2952 0.4603 0.4135 0.1399 0.3906 0.31 0.48 0.36 0.12 0.3353 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.319472 NA NA 0.296279 0.156832 ID=COSM1178401,COSM1178402;OCCURENCE=1(prostate) 0.283 NA 5.7398876 1086 4 128689936 128689936 A G exonic SLC25A31 NA synonymous SNV SLC25A31:NM_031291:exon5:c.A663G:p.P221P exonic ENSG00000151475 NA synonymous SNV ENSG00000151475:ENST00000281154:exon5:c.A663G:p.P221P Score=570;Name=lod=276 NA 4q28.1 Score=878;Name=V$EVI1_05 NA NA NA rs2305958 0.49 0.49 0.457 0.535942 0.659 0.4067 0.6441 0.3298 0.7444 0.65 0.34 0.63 0.32 0.6171 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.022275 NA NA 0.650768 0.401044 NA 0.486 NA 5.7397986 1086 9 5050706 5050706 C T exonic JAK2 NA synonymous SNV JAK2:NM_004972:exon6:c.C489T:p.H163H exonic ENSG00000096968 NA synonymous SNV ENSG00000096968:ENST00000544510:exon3:c.C42T:p.H14H,ENSG00000096968:ENST00000539801:exon5:c.C489T:p.H163H,ENSG00000096968:ENST00000381652:exon6:c.C489T:p.H163H Score=658;Name=lod=632 NA 9p24.1 NA NA NA NA rs2230722 0.34 0.34 0.33 0.358227 0.3002 0.2708 0.3905 0.4887 0.3088 0.31 0.26 0.37 0.46 0.3257 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.96211 NA NA 0.301047 0.464594 NA 0.29 NA 5.7397196 1086 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 1086 5 138773090 138773090 A G exonic DNAJC18 NA synonymous SNV DNAJC18:NM_152686:exon2:c.T198C:p.Y66Y exonic ENSG00000170464 NA synonymous SNV ENSG00000170464:ENST00000302060:exon2:c.T198C:p.Y66Y,ENSG00000170464:ENST00000506870:exon2:c.T198C:p.Y66Y,ENSG00000170464:ENST00000515277:exon4:c.T198C:p.Y66Y,ENSG00000170464:ENST00000515581:exon5:c.T198C:p.Y66Y NA NA 5q31.2 NA Name=PAX5-N19,PU.1,PAX5-C20,BATF,Oct-2,SP1,IRF4_(M-17),BCL3,NFKB,BCL11A,MEF2A,TCF12,p300,POU2F2 Name=24 NA rs10900864 0.44 0.44 0.417 0.409944 0.6491 0.3105 0.6138 0.1225 0.5102 0.65 0.29 0.62 0.15 0.5985 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.268194 NA NA 0.679651 0.227871 NA 0.428 NA 5.7394156 1086 4 39216221 39216221 C T exonic WDR19 NA synonymous SNV WDR19:NM_025132:exon10:c.C891T:p.C297C exonic ENSG00000157796 NA synonymous SNV ENSG00000157796:ENST00000288634:exon9:c.C411T:p.C137C,ENSG00000157796:ENST00000399820:exon10:c.C891T:p.C297C,ENSG00000157796:ENST00000506503:exon10:c.C891T:p.C297C Score=622;Name=lod=450 NA 4p14 NA NA NA NA rs2167494 0.25 0.25 0.239 0.259784 0.3231 0.1597 0.2406 0.2973 0.2607 0.31 0.16 0.22 0.31 0.2935 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.853784 1.853784 NA 0.310668 0.288827 NA 0.283 NA 5.7393986 1086 11 62469929 62469929 C A ncRNA_intronic HNRNPUL2-BSCL2 NA NA NA intronic ENSG00000168000,ENSG00000234857 NA NA NA NA NA 11q12.3 NA Name=BATF Name=22 NA rs72929434 0.15 0.15 0.156 0.13738 0.1928 0.0853 0.1556 0.093 0.181 0.2 0.09 0.19 0.12 0.1815 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.751446 2.751446 NA 0.220284 0.115804 NA 0.225 NA 5.7387493 1086 1 22154845 22154845 A G exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon89:c.T12312C:p.D4104D exonic ENSG00000142798 NA synonymous SNV ENSG00000142798:ENST00000374695:exon89:c.T12312C:p.D4104D Score=577;Name=lod=295 NA 1p36.12 NA NA NA NA rs2228347 0.22 0.22 0.204 0.257188 0.3241 0.1577 0.2161 0.1172 0.5092 0.31 0.17 0.26 0.14 0.2982 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.582938 NA NA 0.306279 0.147072 NA 0.246 NA 5.7380876 1086 15 42138456 42138456 G A exonic JMJD7-PLA2G4B,PLA2G4B NA synonymous SNV PLA2G4B:NM_001114633:exon17:c.G1656A:p.R552R,JMJD7-PLA2G4B:NM_001198588:exon22:c.G2349A:p.R783R,JMJD7-PLA2G4B:NM_005090:exon22:c.G2349A:p.R783R exonic ENSG00000168970,ENSG00000243708 NA synonymous SNV ENSG00000168970:ENST00000458483:exon17:c.G1656A:p.R552R,ENSG00000243708:ENST00000452633:exon18:c.G1656A:p.R552R,ENSG00000168970:ENST00000342159:exon22:c.G2349A:p.R783R,ENSG00000168970:ENST00000382448:exon22:c.G2349A:p.R783R NA NA 15q15.1 Score=814;Name=V$CMYB_01 NA NA NA rs1197669 0.22 0.22 0.201 0.23742 0.331 0.0179 0.2061 0.3321 0.2618 0.31 0.01 0.21 0.31 0.2752 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.767275 NA NA 0.322674 0.322061 NA 0.275 NA 5.7377926 1086 12 57133140 57133140 T G exonic PRIM1 NA synonymous SNV PRIM1:NM_000946:exon10:c.A990C:p.I330I exonic ENSG00000198056 NA synonymous SNV ENSG00000198056:ENST00000549549:exon4:c.A333C:p.I111I,ENSG00000198056:ENST00000338193:exon10:c.A990C:p.I330I Score=565;Name=lod=263 NA 12q13.3 Score=737;Name=V$SEF1_C NA NA NA rs1131514 0.6 0.6 0.541 0.607628 0.6252 0.7401 0.6657 0.3343 0.7812 0.61 0.75 0.69 0.35 0.6816 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 0.641121 NA NA 0.6221 0.426085 ID=COSM431543;OCCURENCE=1(breast) 0.551 NA 5.7377666 1086 18 12076440 12076440 G A intergenic IMPA2,ANKRD62 dist=45555;dist=17408 NA NA ncRNA_exonic ENSG00000256616 NA NA NA Score=778;Name=lod=1937 NA 18p11.21 NA NA Name=69 NA rs35530473 0.25 0.25 0.239 0.244609 0.2624 0.1587 0.3602 0.1929 0.3027 0.27 0.19 0.32 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 0.886702 NA NA NA NA NA 0.188 NA 5.7376 1086 17 8108331 8108331 A G exonic AURKB NA nonsynonymous SNV AURKB:NM_001256834:exon8:c.T770C:p.M257T,AURKB:NM_004217:exon9:c.T893C:p.M298T exonic ENSG00000178999 NA nonsynonymous SNV ENSG00000178999:ENST00000534871:exon8:c.T770C:p.M257T,ENSG00000178999:ENST00000578549:exon8:c.T797C:p.M266T,ENSG00000178999:ENST00000316199:exon9:c.T896C:p.M299T,ENSG00000178999:ENST00000585124:exon9:c.T893C:p.M298T NA NA 17p13.1 NA NA NA NA rs1059476 0.75 0.75 0.72 0.736022 0.8827 0.5516 0.8141 0.6407 0.8487 0.9 0.62 0.82 0.61 0.8306 0.9 0.39 T 0.0 B 0.0 B 0.190 N 1.000 P -0.25 N -0.07 T -0.992 T 0.000 T 0.329 -1.165 0.092 -1.93 -0.814 1.251 4.479 -1.165487 NA 0.5 0.882907 0.702678 NA 0.717 NA 5.7371264 1086 12 53722128 53722128 G A exonic SP7 NA synonymous SNV SP7:NM_152860:exon2:c.C1098T:p.S366S,SP7:NM_001173467:exon3:c.C1098T:p.S366S exonic ENSG00000170374 NA synonymous SNV ENSG00000170374:ENST00000303846:exon2:c.C1098T:p.S366S,ENSG00000170374:ENST00000537210:exon2:c.C1044T:p.S348S,ENSG00000170374:ENST00000536324:exon3:c.C1098T:p.S366S Score=657;Name=lod=626 NA 12q13.13 Score=767;Name=V$STAT3_01 NA Name=11 NA rs7139272 0.92 0.92 0.909 0.895567 0.9871 0.9524 0.9798 0.7005 0.9468 0.99 0.99 0.98 0.68 0.9582 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164242 NA NA 0.984346 0.73243 NA 0.891 NA 5.7370206 1086 6 17764530 17764530 C T exonic KIF13A NA synonymous SNV KIF13A:NM_001105567:exon37:c.G5085A:p.E1695E,KIF13A:NM_001105568:exon37:c.G5085A:p.E1695E,KIF13A:NM_001105566:exon38:c.G5124A:p.E1708E,KIF13A:NM_022113:exon39:c.G5229A:p.E1743E exonic ENSG00000137177 NA synonymous SNV ENSG00000137177:ENST00000502297:exon15:c.G2241A:p.E747E,ENSG00000137177:ENST00000378814:exon37:c.G5085A:p.E1695E,ENSG00000137177:ENST00000378843:exon37:c.G5085A:p.E1695E,ENSG00000137177:ENST00000378816:exon38:c.G5124A:p.E1708E,ENSG00000137177:ENST00000378826:exon38:c.G5124A:p.E1708E,ENSG00000137177:ENST00000259711:exon39:c.G5229A:p.E1743E Score=343;Name=lod=33 NA 6p22.3 NA NA NA NA rs9371018 0.33 0.33 0.294 0.302915 0.3072 0.5347 0.3343 0.1006 0.3108 0.31 0.55 0.34 0.1 0.3093 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.570216 NA NA 0.3132 0.121253 NA 0.232 NA 5.7369666 1086 19 9084216 9084216 T C exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon1:c.A7599G:p.A2533A exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon1:c.A7599G:p.A2533A NA NA 19p13.2 NA Name=NRSF NA NA rs1609459 0.22 0.22 0.207 0.226438 0.3111 0.0228 0.2983 0.27 0.2393 0.31 0.02 0.31 0.26 0.2918 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.857813 NA NA 0.327339 0.258849 NA 0.268 NA 5.7364276 1086 4 129924977 129924977 C A exonic SCLT1 NA synonymous SNV SCLT1:NM_144643:exon6:c.G345T:p.L115L exonic ENSG00000151466 NA synonymous SNV ENSG00000151466:ENST00000281142:exon6:c.G345T:p.L115L,ENSG00000151466:ENST00000434680:exon6:c.G345T:p.L115L,ENSG00000151466:ENST00000503215:exon6:c.G276T:p.L92L Score=477;Name=lod=116 NA 4q28.2 Score=737;Name=V$MYOGNF1_01 NA NA NA rs3113487 0.57 0.57 0.54 0.540136 0.6392 0.6429 0.6081 0.2239 0.7117 0.67 0.68 0.61 0.27 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 -0.749294 NA NA 0.665116 0.299046 ID=COSM1131255,COSM1131256;OCCURENCE=2(prostate) 0.529 NA 5.7356506 1086 7 120764477 120764477 G C exonic CPED1 NA synonymous SNV CPED1:NM_001105533:exon7:c.G1011C:p.A337A,CPED1:NM_024913:exon8:c.G1011C:p.A337A exonic ENSG00000106034 NA synonymous SNV ENSG00000106034:ENST00000443817:exon4:c.G351C:p.A117A,ENSG00000106034:ENST00000423795:exon5:c.G351C:p.A117A,ENSG00000106034:ENST00000428526:exon7:c.G1011C:p.A337A,ENSG00000106034:ENST00000450913:exon7:c.G1011C:p.A337A,ENSG00000106034:ENST00000310396:exon8:c.G1011C:p.A337A Score=462;Name=lod=101 NA 7q31.31 NA NA NA NA rs1524498 0.53 0.53 0.486 NA NA NA NA NA NA 0.48 0.85 0.58 0.2 0.4877 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 1.199272 NA NA 0.443953 0.258511 NA 0.428 NA 5.7350136 1087 14 106926211 106926211 C T intergenic LINC00226,LINC00221 dist=181245;dist=12244 NA NA exonic ENSG00000232216 NA nonsynonymous SNV ENSG00000232216:ENST00000434710:exon2:c.G331A:p.A111T Score=439;Name=lod=81 NA 14q32.33 NA NA NA NA rs116899367 0.01 0.01 0.006 0.00898562 0.0388 NA 0.0043 NA 0.0031 0.04 NA 0.01 NA 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 2.137275 2.137275 0.01 0.036142 0.00571 NA NA NA 5.7347914 1087 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 1087 18 61022791 61022791 C T exonic KDSR NA synonymous SNV KDSR:NM_002035:exon4:c.G261A:p.V87V exonic ENSG00000119537 NA synonymous SNV ENSG00000119537:ENST00000326575:exon4:c.G261A:p.V87V,ENSG00000119537:ENST00000406396:exon4:c.G261A:p.V87V,ENSG00000119537:ENST00000592327:exon4:c.G261A:p.V87V Score=603;Name=lod=376 NA 18q21.33 Score=949;Name=V$MYOD_01 NA NA NA rs2003149 0.56 0.56 0.538 0.556909 0.6481 0.4335 0.6628 0.438 0.6759 0.68 0.46 0.65 0.42 0.627 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.904622 NA NA 0.657209 0.493872 ID=COSM148435;OCCURENCE=1(stomach) 0.5 NA 5.7343576 1087 1 26887592 26887592 T C exonic RPS6KA1 NA synonymous SNV RPS6KA1:NM_001006665:exon15:c.T1425C:p.Y475Y,RPS6KA1:NM_002953:exon16:c.T1398C:p.Y466Y exonic ENSG00000117676 NA synonymous SNV ENSG00000117676:ENST00000403732:exon3:c.T246C:p.Y82Y,ENSG00000117676:ENST00000374162:exon15:c.T1122C:p.Y374Y,ENSG00000117676:ENST00000530003:exon15:c.T1350C:p.Y450Y,ENSG00000117676:ENST00000531382:exon15:c.T1425C:p.Y475Y,ENSG00000117676:ENST00000374166:exon16:c.T1365C:p.Y455Y,ENSG00000117676:ENST00000374168:exon16:c.T1398C:p.Y466Y,ENSG00000117676:ENST00000526792:exon16:c.T1122C:p.Y374Y NA NA 1p36.11 Score=725;Name=V$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 1087 13 115004935 115004935 T C exonic CDC16 NA synonymous SNV CDC16:NM_001078645:exon5:c.T351C:p.P117P,CDC16:NM_003903:exon5:c.T351C:p.P117P exonic ENSG00000130177 NA synonymous SNV ENSG00000130177:ENST00000252457:exon5:c.T348C:p.P116P,ENSG00000130177:ENST00000252458:exon5:c.T69C:p.P23P,ENSG00000130177:ENST00000356221:exon5:c.T351C:p.P117P,ENSG00000130177:ENST00000360383:exon5:c.T351C:p.P117P,ENSG00000130177:ENST00000375308:exon5:c.T69C:p.P23P,ENSG00000130177:ENST00000375310:exon5:c.T69C:p.P23P,ENSG00000130177:ENST00000375312:exon5:c.T69C:p.P23P NA NA 13q34 Score=920;Name=V$HSF2_01 NA NA NA rs2296970 0.41 0.41 0.445 0.441693 0.3191 0.2024 0.3516 0.8366 0.3446 0.31 0.22 0.35 0.82 0.3295 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 -0.641503 NA NA 0.284302 0.741943 NA 0.522 NA 5.7337646 1087 21 44841945 44841945 C T intronic SIK1 NA NA NA intronic ENSG00000142178 NA NA NA NA NA 21q22.3 NA Name=Pol2(b) Name=9 NA rs59151119 0.14 0.14 0.163 0.165735 0.0765 0.004 0.0677 0.4493 0.1104 0.08 0.0017 0.08 0.43 0.1074 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.67717 NA NA 0.082907 0.408988 NA 0.196 NA 5.733193 1087 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 1087 14 93943998 93943998 G A exonic UNC79 NA synonymous SNV UNC79:NM_020818:exon4:c.G12A:p.T4T exonic ENSG00000133958 NA synonymous SNV ENSG00000133958:ENST00000256339:exon4:c.G12A:p.T4T,ENSG00000133958:ENST00000393151:exon4:c.G543A:p.T181T,ENSG00000133958:ENST00000553484:exon4:c.G543A:p.T181T,ENSG00000133958:ENST00000555664:exon4:c.G543A:p.T181T Score=716;Name=lod=1084 NA 14q32.12 NA NA NA NA rs61992606 0.38 0.38 0.362 0.372804 0.2883 0.6964 0.2421 0.267 0.362 0.29 0.67 0.23 0.28 0.3386 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 1.108458 NA NA 0.306977 0.275533 NA 0.297 NA 5.7327896 1087 12 122369762 122369762 C T exonic WDR66 NA synonymous SNV WDR66:NM_001178003:exon4:c.C858T:p.N286N,WDR66:NM_144668:exon4:c.C858T:p.N286N exonic ENSG00000158023 NA synonymous SNV ENSG00000158023:ENST00000288912:exon4:c.C858T:p.N286N,ENSG00000158023:ENST00000397454:exon4:c.C858T:p.N286N NA NA 12q24.31 NA NA Name=36 NA rs7313748 0.3 0.3 0.277 0.279553 0.3131 0.4821 0.3602 0.0204 0.3292 0.32 0.5 0.34 0.03 0.3215 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.925172 NA NA 0.299353 0.057172 NA 0.232 NA 5.7327136 1087 13 115004914 115004914 C T exonic CDC16 NA synonymous SNV CDC16:NM_001078645:exon5:c.C330T:p.D110D,CDC16:NM_003903:exon5:c.C330T:p.D110D exonic ENSG00000130177 NA synonymous SNV ENSG00000130177:ENST00000252457:exon5:c.C327T:p.D109D,ENSG00000130177:ENST00000252458:exon5:c.C48T:p.D16D,ENSG00000130177:ENST00000356221:exon5:c.C330T:p.D110D,ENSG00000130177:ENST00000360383:exon5:c.C330T:p.D110D,ENSG00000130177:ENST00000375308:exon5:c.C48T:p.D16D,ENSG00000130177:ENST00000375310:exon5:c.C48T:p.D16D,ENSG00000130177:ENST00000375312:exon5:c.C48T:p.D16D Score=576;Name=lod=291 NA 13q34 NA NA NA NA rs2296971 0.41 0.41 0.452 0.444289 0.3191 0.2024 0.3516 0.8464 0.3446 0.31 0.22 0.35 0.83 0.3299 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 -0.029397 NA NA 0.285 0.748752 NA 0.522 NA 5.7326666 1087 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 1087 12 122326812 122326812 T C exonic PSMD9 NA nonsynonymous SNV PSMD9:NM_001261400:exon1:c.T50C:p.V17A,PSMD9:NM_002813:exon1:c.T50C:p.V17A exonic ENSG00000110801,ENSG00000256950 NA nonsynonymous SNV ENSG00000110801:ENST00000261817:exon1:c.T50C:p.V17A,ENSG00000110801:ENST00000340175:exon1:c.T50C:p.V17A,ENSG00000110801:ENST00000537407:exon1:c.T50C:p.V17A,ENSG00000110801:ENST00000538613:exon1:c.T50C:p.V17A,ENSG00000110801:ENST00000540962:exon1:c.T50C:p.V17A,ENSG00000110801:ENST00000541212:exon1:c.T50C:p.V17A,ENSG00000256950:ENST00000542602:exon1:c.T50C:p.V17A,ENSG00000110801:ENST00000543699:exon1:c.T50C:p.V17A NA NA 12q24.31 NA Name=HA-E2F1,Pol2,HEY1,Pol2-4H8,NFKB,TAF1,NRSF,STAT3,Sin3Ak-20,TBP NA NA rs2230681 0.84 0.84 0.836 0.833666 0.8728 0.875 0.7349 0.8132 0.8487 0.88 0.84 0.78 0.8 0.8557 0.88 0.8 T 0.0 B 0.0 B 0.215 N 1.000 P -1.01 N 2.4 T -1.034 T 0.000 T 0.197 1.121 9.571 -0.448 -0.439 -0.092 9.141 1.121088 NA 1 0.872526 0.835607 NA 0.768 NA 5.7323074 1087 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 1087 16 57601792 57601792 C T exonic GPR114 NA synonymous SNV GPR114:NM_153837:exon9:c.C846T:p.R282R exonic ENSG00000159618 NA synonymous SNV ENSG00000159618:ENST00000340339:exon9:c.C846T:p.R282R,ENSG00000159618:ENST00000349457:exon9:c.C846T:p.R282R NA NA 16q21 Score=835;Name=V$FAC1_01 NA NA NA rs9937918 0.46 0.46 0.435 0.454273 0.2783 0.7123 0.5029 0.3759 0.4407 0.29 0.74 0.52 0.38 0.3734 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091521 NA NA 0.282791 0.368062 NA 0.384 NA 5.7321756 1087 11 129785594 129785594 G A exonic PRDM10 NA synonymous SNV PRDM10:NM_199439:exon12:c.C2229T:p.P743P,PRDM10:NM_199438:exon13:c.C2241T:p.P747P,PRDM10:NM_199437:exon16:c.C2487T:p.P829P,PRDM10:NM_020228:exon17:c.C2499T:p.P833P exonic ENSG00000170325 NA synonymous SNV ENSG00000170325:ENST00000533431:exon10:c.C1638T:p.P546P,ENSG00000170325:ENST00000304538:exon12:c.C2229T:p.P743P,ENSG00000170325:ENST00000423662:exon13:c.C2241T:p.P747P,ENSG00000170325:ENST00000526082:exon13:c.C2241T:p.P747P,ENSG00000170325:ENST00000360871:exon16:c.C2487T:p.P829P,ENSG00000170325:ENST00000528746:exon16:c.C2409T:p.P803P,ENSG00000170325:ENST00000358825:exon17:c.C2499T:p.P833P NA NA 11q24.3 Score=741;Name=V$MYOGNF1_01 NA NA NA rs3734073 0.24 0.24 0.266 0.229433 0.3231 0.1567 0.2896 0.1218 0.3108 0.33 0.17 0.3 0.13 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 1.090962 NA NA 0.322667 0.164925 ID=COSM1352564;OCCURENCE=1(large_intestine) 0.246 NA 5.7319996 1087 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 1087 15 49088198 49088198 G A intronic CEP152 NA NA NA intronic ENSG00000103995 NA NA NA NA NA 15q21.1 NA Name=TAL1_(SC-12984),GATA-1 Name=13 NA rs77732888 0.06 0.06 0.042 0.0415335 0.0954 NA 0.0706 0.0295 0.0245 0.1 NA 0.1 0.02 0.0718 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 2.233473 2.233473 NA 0.10251 0.035141 NA 0.029 NA 5.73029 1087 20 7980390 7980390 C T exonic TMX4 NA synonymous SNV TMX4:NM_021156:exon4:c.G456A:p.P152P exonic ENSG00000125827 NA synonymous SNV ENSG00000125827:ENST00000527925:exon3:c.G372A:p.P124P,ENSG00000125827:ENST00000246024:exon4:c.G456A:p.P152P NA NA 20p12.3 Score=815;Name=V$PPARG_03 NA NA NA rs1012891 0.31 0.31 0.306 0.350639 0.3111 0.3562 0.2939 0.2602 0.5481 0.32 0.36 0.3 0.26 0.3318 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.256602 NA NA 0.293488 0.27281 NA 0.217 NA 5.7302786 1087 3 194408704 194408704 A G exonic FAM43A NA synonymous SNV FAM43A:NM_153690:exon1:c.A1149G:p.S383S exonic ENSG00000185112 NA synonymous SNV ENSG00000185112:ENST00000329759:exon1:c.A1149G:p.S383S NA NA 3q29 NA Name=Pol2,CTCF,CTCF_(C-20),CtBP2 Name=119 NA rs4677673 0.71 0.71 0.697 0.714856 0.6262 0.7728 0.6282 0.8116 0.6769 0.64 0.76 0.64 0.79 0.6559 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 1.121052 NA NA 0.654364 0.801184 ID=COSM1566494;OCCURENCE=1(large_intestine) 0.217 NA 5.7302026 1087 6 56044578 56044578 T C exonic COL21A1 NA synonymous SNV COL21A1:NM_030820:exon3:c.A438G:p.K146K exonic ENSG00000124749 NA synonymous SNV ENSG00000124749:ENST00000244728:exon3:c.A438G:p.K146K,ENSG00000124749:ENST00000370819:exon3:c.A438G:p.K146K,ENSG00000124749:ENST00000535941:exon3:c.A438G:p.K146K Score=590;Name=lod=334 NA 6p12.1 NA NA Name=4 NA rs2038149 0.67 0.67 0.668 0.690895 0.6272 0.8631 0.5677 0.6225 0.7587 0.64 0.86 0.56 0.59 0.662 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 1.036147 NA NA 0.647425 0.639442 NA 0.674 NA 5.7300416 1087 19 8367504 8367504 T A intronic CD320 NA NA NA intronic ENSG00000167775 NA NA NA NA NA 19p13.2 NA Name=Egr-1 Name=15 NA rs250511 0.09 0.09 0.096 0.0834665 0.0865 0.1339 0.0447 0.0688 0.0757 0.08 0.14 0.05 0.08 0.0876 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.260401 NA NA 0.096163 0.071266 NA 0.065 NA 5.729737 1087 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 1087 4 169432841 169432841 G A exonic PALLD NA synonymous SNV PALLD:NM_001166108:exon2:c.G186A:p.K62K,PALLD:NM_016081:exon2:c.G186A:p.K62K exonic ENSG00000129116 NA synonymous SNV ENSG00000129116:ENST00000508898:exon1:c.G123A:p.K41K,ENSG00000129116:ENST00000261509:exon2:c.G186A:p.K62K,ENSG00000129116:ENST00000505667:exon2:c.G186A:p.K62K Score=317;Name=lod=26 NA 4q32.3 NA NA NA NA rs1806729 0.25 0.25 0.23 0.236022 0.329 0.1925 0.1844 0.2231 0.2393 0.34 0.18 0.21 0.24 0.2841 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.537579 NA NA 0.324302 0.236042 NA 0.261 NA 5.7292646 1087 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 1087 3 58112488 58112488 C T exonic FLNB NA synonymous SNV FLNB:NM_001164317:exon24:c.C4221T:p.P1407P,FLNB:NM_001164318:exon24:c.C4221T:p.P1407P,FLNB:NM_001164319:exon24:c.C4221T:p.P1407P,FLNB:NM_001457:exon24:c.C4221T:p.P1407P exonic ENSG00000136068 NA synonymous SNV ENSG00000136068:ENST00000419752:exon23:c.C3714T:p.P1238P,ENSG00000136068:ENST00000493452:exon23:c.C3714T:p.P1238P,ENSG00000136068:ENST00000295956:exon24:c.C4221T:p.P1407P,ENSG00000136068:ENST00000348383:exon24:c.C4221T:p.P1407P,ENSG00000136068:ENST00000357272:exon24:c.C4221T:p.P1407P,ENSG00000136068:ENST00000358537:exon24:c.C4221T:p.P1407P,ENSG00000136068:ENST00000429972:exon24:c.C4221T:p.P1407P,ENSG00000136068:ENST00000490882:exon24:c.C4221T:p.P1407P Score=488;Name=lod=128 NA 3p14.3 NA NA NA NA rs2362904 0.59 0.59 0.593 0.648562 0.2833 0.9712 0.4942 0.7852 0.6166 0.28 0.97 0.42 0.77 0.4091 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 0.946095 NA NA 0.245465 0.708806 NA 0.536 NA 5.7288016 1087 19 42132314 42132314 G C exonic CEACAM4 NA nonsynonymous SNV CEACAM4:NM_001817:exon2:c.C85G:p.H29D exonic ENSG00000105352 NA nonsynonymous SNV ENSG00000105352:ENST00000221954:exon2:c.C85G:p.H29D,ENSG00000105352:ENST00000600925:exon2:c.C85G:p.H29D NA NA 19q13.2 NA NA NA NA rs1126454 0.6 0.6 0.571 0.609625 0.5417 0.8919 0.4669 0.4599 0.6922 0.56 0.87 0.47 0.44 0.5511 0.87 0.13 T 0.0 B 0.0 B . . 1.000 P -0.22 N 5.28 T -1.097 T 0.000 T 0.074 -0.067 3.674 0.701 -0.213 -0.344 2.368 -0.066967 NA 0.13 0.51186 0.473218 NA 0.645 NA 5.7286734 1087 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 1087 10 7618686 7618686 T G exonic ITIH5 NA nonsynonymous SNV ITIH5:NM_032817:exon6:c.A1066C:p.T356P,ITIH5:NM_001001851:exon10:c.A1708C:p.T570P,ITIH5:NM_030569:exon10:c.A1708C:p.T570P exonic ENSG00000123243 NA nonsynonymous SNV ENSG00000123243:ENST00000298441:exon6:c.A1066C:p.T356P,ENSG00000123243:ENST00000256861:exon10:c.A1708C:p.T570P,ENSG00000123243:ENST00000397145:exon10:c.A1708C:p.T570P,ENSG00000123243:ENST00000397146:exon10:c.A1708C:p.T570P,ENSG00000123243:ENST00000446830:exon10:c.A1054C:p.T352P NA NA 10p14 NA NA NA NA rs2275069 0.56 0.56 0.503 0.530551 0.5209 0.7669 0.5461 0.3631 0.5123 0.51 0.79 0.55 0.39 0.546 0.79 0.5 T 0.0 B 0.0 B 0.055 N 1.000 P . . 2.76 T -1.052 T 0.000 T 0.085 -2.39 0.003 1.31 -0.248 -0.133 1.325 -2.389792 NA 0.47 0.538372 0.407399 NA 0.558 NA 5.7280614 1087 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 1087 11 5809477 5809477 A G exonic OR52N1 NA synonymous SNV OR52N1:NM_001001913:exon1:c.T570C:p.S190S exonic ENSG00000181001 NA synonymous SNV ENSG00000181001:ENST00000317078:exon1:c.T570C:p.S190S Score=497;Name=lod=140 NA 11p15.4 NA NA NA NA rs10838637 0.31 0.31 0.312 0.321685 0.332 0.2004 0.2738 0.4576 0.2863 0.33 0.19 0.26 0.44 0.3004 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.697726 NA NA 0.307263 0.43094 NA 0.333 NA 5.7270036 1087 1 216143948 216143948 T C intronic USH2A NA NA NA intronic ENSG00000042781 NA NA NA NA NA 1q41 Score=807;Name=V$FREAC3_01 NA Name=31 NA rs6689120 0.09 0.09 0.087 0.0784744 0.0934 NA 0.0965 0.1324 0.0583 0.1 NA 0.09 0.17 0.0843 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.628949 1.628949 NA 0.095581 0.118475 NA 0.065 NA 5.726719 1087 21 40652142 40652142 G A exonic BRWD1 NA synonymous SNV BRWD1:NM_018963:exon9:c.C864T:p.Y288Y,BRWD1:NM_033656:exon9:c.C864T:p.Y288Y exonic ENSG00000185658 NA synonymous SNV ENSG00000185658:ENST00000333229:exon9:c.C864T:p.Y288Y,ENSG00000185658:ENST00000342449:exon9:c.C864T:p.Y288Y,ENSG00000185658:ENST00000380800:exon9:c.C864T:p.Y288Y Score=493;Name=lod=134 NA 21q22.2 NA NA NA NA rs2836972 0.23 0.23 0.217 0.215056 0.3171 0.0367 0.2176 0.3003 0.1769 0.32 0.03 0.25 0.29 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 0.923088 NA NA 0.348256 0.30345 ID=COSM444480,COSM444479;OCCURENCE=1(breast) 0.283 NA 5.7264106 1087 11 74559481 74559481 C T exonic XRRA1 NA synonymous SNV XRRA1:NM_001270380:exon12:c.G1122A:p.P374P,XRRA1:NM_001270381:exon12:c.G558A:p.P186P,XRRA1:NM_182969:exon15:c.G1383A:p.P461P exonic ENSG00000166435 NA synonymous SNV ENSG00000166435:ENST00000530562:exon10:c.G51A:p.P17P,ENSG00000166435:ENST00000321448:exon12:c.G558A:p.P186P,ENSG00000166435:ENST00000527087:exon12:c.G1122A:p.P374P,ENSG00000166435:ENST00000340360:exon15:c.G1383A:p.P461P Score=369;Name=lod=42 NA 11q13.4 NA NA NA NA rs4944961 0.35 0.35 0.304 0.279553 0.3181 0.5089 0.4957 0.0946 0.1002 0.32 0.53 0.46 0.11 0.3214 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.426279 1.426279 NA 0.300913 0.134165 NA 0.196 NA 5.7262536 1087 21 28212760 28212760 G A exonic ADAMTS1 NA synonymous SNV ADAMTS1:NM_006988:exon5:c.C1500T:p.P500P exonic ENSG00000154734 NA synonymous SNV ENSG00000154734:ENST00000284984:exon5:c.C1500T:p.P500P NA NA 21q21.3 NA Name=ZNF263,Pol2(phosphoS2),Pol2 Name=9 NA rs436525 0.57 0.57 0.616 0.565895 0.6451 0.3909 0.4366 0.7035 0.5706 0.65 0.41 0.44 0.72 0.6203 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.83326 NA NA 0.675116 0.674989 NA 0.522 NA 5.7261506 1088 2 197004439 197004439 A G exonic STK17B NA synonymous SNV STK17B:NM_004226:exon7:c.T741C:p.I247I exonic ENSG00000081320 NA synonymous SNV ENSG00000081320:ENST00000263955:exon7:c.T741C:p.I247I,ENSG00000081320:ENST00000409228:exon7:c.T741C:p.I247I Score=624;Name=lod=457 NA 2q32.3 Score=856;Name=V$FOXJ2_02 NA NA NA rs1054537 0.72 0.72 0.735 0.703075 0.6481 0.9028 0.7305 0.5794 0.7014 0.66 0.89 0.7 0.61 0.671 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.173635 NA NA 0.622672 0.583069 NA 0.638 NA 5.7248946 1088 2 141032088 141032088 C T exonic LRP1B NA synonymous SNV LRP1B:NM_018557:exon85:c.G13047A:p.T4349T exonic ENSG00000168702 NA synonymous SNV ENSG00000168702:ENST00000389484:exon85:c.G13047A:p.T4349T NA NA 2q22.1 NA NA NA NA rs1386356 0.54 0.54 0.514 0.486222 0.665 0.6508 0.5735 0.1558 0.5174 0.67 0.67 0.57 0.19 0.6037 0.67 . . . . . . . . 0.000 P . . . . -0.958 T 0.000 T . 1.074 9.384 -2.23 -0.237 0.285 1.766 1.073697 NA NA 0.673256 0.256241 NA 0.5 NA 5.7247106 1088 17 42855554 42855554 T C exonic ADAM11 NA synonymous SNV ADAM11:NM_002390:exon25:c.T2220C:p.I740I exonic ENSG00000073670 NA synonymous SNV ENSG00000073670:ENST00000200557:exon25:c.T2220C:p.I740I,ENSG00000073670:ENST00000535346:exon25:c.T1620C:p.I540I Score=577;Name=lod=295 NA 17q21.31 Score=933;Name=V$ZID_01 NA NA NA rs2070605 0.65 0.65 0.631 0.645367 0.6769 0.7698 0.6931 0.447 0.7188 0.67 0.78 0.67 0.45 0.6433 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 1.190542 NA NA 0.622093 0.497957 NA 0.63 NA 5.7243736 1088 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 1088 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 1088 2 220283259 220283259 A G exonic DES NA synonymous SNV DES:NM_001927:exon1:c.A75G:p.P25P exonic ENSG00000175084 NA synonymous SNV ENSG00000175084:ENST00000373960:exon1:c.A75G:p.P25P Score=539;Name=lod=206 NA 2q35 Score=765;Name=V$PAX5_02 NA NA NA rs1318299 0.91 0.91 0.887 0.886182 0.9901 0.999 0.9611 0.615 0.9765 0.99 1 0.97 0.64 0.9652 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3455 NA NA 0.987703 0.717846 NA 0.457 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Cardiomyopathy|not_specified|not_provided;CLNREVSTAT=single|mult|single;CLNACC=RCV000029660.1|RCV000037251.3|RCV000124668.1;CLNDSDB=MedGen:SNOMED_CT|.|.;CLNDSDBID=C0878544:85898001|.|. 5.7236636 1088 7 150500520 150500520 C T exonic TMEM176A NA synonymous SNV TMEM176A:NM_018487:exon4:c.C318T:p.Y106Y exonic ENSG00000002933 NA synonymous SNV ENSG00000002933:ENST00000461345:exon3:c.C141T:p.Y47Y,ENSG00000002933:ENST00000468689:exon3:c.C141T:p.Y47Y,ENSG00000002933:ENST00000475536:exon3:c.C174T:p.Y58Y,ENSG00000002933:ENST00000004103:exon4:c.C318T:p.Y106Y,ENSG00000002933:ENST00000484928:exon4:c.C318T:p.Y106Y NA NA 7q36.1 NA NA Name=6 NA rs741066 0.2 0.2 0.182 0.196486 0.3549 0.0377 0.2089 0.1271 0.2822 0.37 0.03 0.22 0.12 0.2747 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.526029 NA NA 0.313837 0.164775 ID=COSM150420;OCCURENCE=1(stomach) 0.217 NA 5.7232296 1088 11 721570 721570 C T exonic EPS8L2 NA synonymous SNV EPS8L2:NM_022772:exon10:c.C774T:p.I258I exonic ENSG00000177106 NA nonsynonymous SNV ENSG00000177106:ENST00000530452:exon3:c.C196T:p.P66S Score=574;Name=lod=287 NA 11p15.5 NA NA NA NA rs7635 0.33 0.33 0.257 0.279752 0.4155 0.1746 0.5648 0.1884 0.1697 0.42 0.2 0.53 0.17 0.4113 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.74674 1.74674 NA 0.450549 0.221562 ID=COSM1356757;OCCURENCE=1(large_intestine) 0.203 NA 5.722651 1088 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 1088 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 1088 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 1088 17 67028260 67028260 T C exonic ABCA9 NA synonymous SNV ABCA9:NM_080283:exon10:c.A1434G:p.K478K exonic ENSG00000154258 NA synonymous SNV ENSG00000154258:ENST00000340001:exon10:c.A1434G:p.K478K,ENSG00000154258:ENST00000370732:exon10:c.A1434G:p.K478K,ENSG00000154258:ENST00000453985:exon10:c.A1434G:p.K478K Score=548;Name=lod=226 NA 17q24.2 NA Name=HNF4A NA NA rs2302291 0.41 0.41 0.379 0.406949 0.662 0.2659 0.5591 0.093 0.6063 0.67 0.26 0.54 0.11 0.5954 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 1.065693 NA NA 0.688837 0.192465 ID=COSM148325;OCCURENCE=1(stomach) 0.428 NA 5.7204296 1088 5 40998196 40998196 T C exonic MROH2B NA synonymous SNV MROH2B:NM_173489:exon42:c.A4716G:p.Q1572Q exonic ENSG00000171495 NA synonymous SNV ENSG00000171495:ENST00000506092:exon32:c.A3381G:p.Q1127Q,ENSG00000171495:ENST00000399564:exon42:c.A4716G:p.Q1572Q Score=426;Name=lod=72 NA 5p13.1 Score=882;Name=V$SPZ1_01 NA NA NA rs704040 0.65 0.65 0.66 0.623203 0.6471 0.7252 0.5879 0.5998 0.5501 0.66 0.69 0.59 0.63 0.6354 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 0.69441 NA NA 0.66437 0.623234 NA 0.594 NA 5.7197966 1088 10 54074660 54074660 C T intronic DKK1 NA NA NA intronic ENSG00000107984 NA NA NA NA NA 10q21.1 NA Name=Pol2,GR Name=58 NA rs41281546 0.08 0.08 0.086 0.106829 0.0557 0.0893 0.0461 0.1377 0.1789 0.06 0.1 0.05 0.12 0.1544 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 1.095612 NA NA 0.070695 0.118277 NA 0.065 NA 5.719205 1088 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 1088 15 28211921 28211921 G A exonic OCA2 NA synonymous SNV OCA2:NM_000275:exon15:c.C1551T:p.C517C exonic ENSG00000104044 NA synonymous SNV ENSG00000104044:ENST00000353809:exon14:c.C1479T:p.C493C,ENSG00000104044:ENST00000354638:exon15:c.C1551T:p.C517C,ENSG00000104044:ENST00000382996:exon15:c.C1551T:p.C517C Score=456;Name=lod=95 NA 15q13.1 Score=857;Name=V$OCT1_Q6 NA NA NA rs1800411 0.39 0.39 0.354 0.364018 0.6779 0.1558 0.4712 0.2383 0.3497 0.68 0.12 0.48 0.2 0.5638 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.771823 NA NA 0.706163 0.295506 NA 0.507 NA 5.7188036 1088 12 80663952 80663952 G A intronic OTOGL NA NA NA intronic ENSG00000165899 NA NA NA NA NA 12q21.31 NA Name=CTCF,Znf143_(16618-1-AP),CTCF_(C-20),CTCF_(SC-5916),Rad21,SMC3_(ab9263) Name=127 NA rs11114378 0.05 0.05 0.058 0.0471246 0.0924 NA 0.0576 0.0272 0.0685 0.09 NA 0.06 0.02 0.0874 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 -0.096485 NA NA 0.101521 0.034747 NA 0.043 NA 5.718679 1088 14 102814945 102814945 G A exonic CINP NA synonymous SNV CINP:NM_001177611:exon5:c.C633T:p.S211S,CINP:NM_032630:exon5:c.C588T:p.S196S exonic ENSG00000100865 NA synonymous SNV ENSG00000100865:ENST00000216756:exon5:c.C588T:p.S196S,ENSG00000100865:ENST00000536961:exon5:c.C633T:p.S211S,ENSG00000100865:ENST00000559514:exon5:c.C588T:p.S196S Score=284;Name=lod=19 NA 14q32.31 NA NA NA NA rs7012 0.31 0.31 0.298 0.263978 0.332 0.4861 0.2478 0.0666 0.2434 0.35 0.49 0.25 0.09 0.3037 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.404772 1.404772 NA 0.312791 0.111212 NA 0.304 NA 5.7181756 1088 5 76926578 76926578 T C exonic OTP NA synonymous SNV OTP:NM_032109:exon3:c.A489G:p.K163K exonic ENSG00000171540 NA synonymous SNV ENSG00000171540:ENST00000306422:exon3:c.A489G:p.K163K Score=595;Name=lod=350 NA 5q14.1 NA Name=HA-E2F1,NRSF Name=63 NA rs13357072 0.99 0.99 0.995 0.993211 0.9821 1 0.9914 1 0.9898 0.98 1 0.99 1 0.9852 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.934954 1.934954 NA 0.981716 0.997216 NA 0.957 NA 5.7176506 1088 15 77907784 77907784 G A exonic LINGO1 NA synonymous SNV LINGO1:NM_032808:exon2:c.C465T:p.I155I exonic ENSG00000169783 NA synonymous SNV ENSG00000169783:ENST00000355300:exon2:c.C465T:p.I155I,ENSG00000169783:ENST00000557798:exon2:c.C480T:p.I160I,ENSG00000169783:ENST00000561030:exon4:c.C447T:p.I149I,ENSG00000169783:ENST00000561686:exon4:c.C447T:p.I149I Score=680;Name=lod=770 NA 15q24.3 Score=870;Name=V$EVI1_06 NA NA NA rs2271398 0.69 0.69 0.685 0.715655 0.6461 0.7937 0.6527 0.6831 0.7955 0.65 0.79 0.62 0.68 0.668 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 0.029542 NA NA 0.635173 0.683989 NA 0.638 NA 5.7173936 1088 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 1088 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 1088 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 1088 19 7573301 7573301 C T exonic C19orf45 NA synonymous SNV C19orf45:NM_198534:exon9:c.C1503T:p.C501C exonic ENSG00000198723 NA synonymous SNV ENSG00000198723:ENST00000361664:exon9:c.C1503T:p.C501C Score=355;Name=lod=37 NA 19p13.2 NA NA NA NA rs1133380 0.28 0.28 0.241 0.239417 0.337 0.1756 0.3285 0.1725 0.2321 0.35 0.2 0.37 0.2 0.2926 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.885463 NA NA 0.321163 0.184832 NA 0.283 NA 5.7159036 1088 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 1088 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 1088 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 1088 7 6048973 6048973 C A UTR5 AIMP2 NM_006303:c.-22C>A NA NA UTR5 ENSG00000106305 ENST00000223029:c.-22C>A,ENST00000400479:c.-5903C>A,ENST00000415999:c.-22C>A,ENST00000395236:c.-22C>A NA NA NA NA 7p22.1 NA Name=CHD2_(N-1250),Pol2(phosphoS2),Pol2,E2F6_(H-50),E2F6,POU2F2,TAF7_(SQ-8),Ini1,Pol2-4H8,EBF1_(C-8),NFKB,TAF1,RFX5_(N-494),ZEB1_(SC-25388),NF-YA,HEY1,IRF1,Oct-2,c-Myc,PGC1A,YY1_(C-20),Max,Mxi1_(bHLH),SETDB1,Sin3Ak-20,AP-2alpha,NF-YB,AP-2gamma,TR4,TBP,Pol2(b) Name=148 NA rs1062372 0.22 0.22 0.203 0.232029 0.1948 0.1607 0.1556 0.3457 0.2444 0.21 0.16 0.16 0.33 0.2212 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.072686 NA NA 0.202326 0.317975 NA 0.261 NA 5.7150074 1089 18 76829377 76829377 A G upstream ATP9B NA NA NA UTR5 ENSG00000166377 ENST00000588600:c.-34A>G NA NA NA NA 18q23 NA Name=SP1,YY1_(C-20),PU.1,YY1,AP-2alpha,TBP,AP-2gamma,HA-E2F1,Pol2,CTCF,Pol2-4H8,TAF1,E2F1,ATF3,HEY1,GRp20 Name=148 NA rs4502288 0.12 0.12 0.099 0.115615 0.1034 0.0228 0.0749 0.289 0.0184 0.1 0.02 0.07 0.29 0.111 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.869602 1.869602 NA 0.070782 0.211575 NA 0.014 NA 5.714818 1089 15 77907535 77907535 C G exonic LINGO1 NA synonymous SNV LINGO1:NM_032808:exon2:c.G714C:p.L238L exonic ENSG00000169783 NA synonymous SNV ENSG00000169783:ENST00000355300:exon2:c.G714C:p.L238L,ENSG00000169783:ENST00000557798:exon2:c.G729C:p.L243L,ENSG00000169783:ENST00000561030:exon4:c.G696C:p.L232L Score=647;Name=lod=567 NA 15q24.3 Score=843;Name=V$OLF1_01 NA NA NA rs2271396 0.69 0.69 0.692 0.718051 0.6461 0.8016 0.6556 0.6846 0.7955 0.65 0.8 0.62 0.68 0.6693 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 -0.218133 NA NA 0.636565 0.683824 NA 0.652 NA 5.7147016 1089 8 75274141 75274141 T G exonic GDAP1 NA synonymous SNV GDAP1:NM_001040875:exon4:c.T303G:p.S101S,GDAP1:NM_018972:exon4:c.T507G:p.S169S exonic ENSG00000104381 NA synonymous SNV ENSG00000104381:ENST00000220822:exon4:c.T507G:p.S169S,ENSG00000104381:ENST00000434412:exon4:c.T303G:p.S101S Score=584;Name=lod=316 NA 8q21.11 NA NA NA NA rs11554166 0.25 0.25 0.22 0.219249 0.3569 0.3026 0.1787 0.093 0.1912 0.34 0.31 0.19 0.08 0.2774 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.30193 1.30193 NA 0.31814 0.128007 NA 0.333 NA 5.7142266 1089 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 1089 6 35803192 35803192 C A exonic SRPK1 NA synonymous SNV SRPK1:NM_003137:exon16:c.G1857T:p.S619S exonic ENSG00000096063 NA synonymous SNV ENSG00000096063:ENST00000361690:exon16:c.G1905T:p.S635S,ENSG00000096063:ENST00000373822:exon16:c.G1533T:p.S511S,ENSG00000096063:ENST00000373825:exon16:c.G1857T:p.S619S,ENSG00000096063:ENST00000423325:exon16:c.G1809T:p.S603S Score=652;Name=lod=594 NA 6p21.31 NA NA NA NA rs1049649 0.28 0.28 0.258 0.294129 0.3231 0.1607 0.2781 0.3071 0.3957 0.33 0.15 0.31 0.34 0.3192 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.432236 NA NA 0.310615 0.298765 NA 0.261 NA 5.7137516 1089 16 74537591 74537591 C T exonic GLG1 NA synonymous SNV GLG1:NM_001145666:exon3:c.G579A:p.L193L,GLG1:NM_001145667:exon4:c.G612A:p.L204L,GLG1:NM_012201:exon4:c.G612A:p.L204L exonic ENSG00000090863 NA synonymous SNV ENSG00000090863:ENST00000447066:exon3:c.G579A:p.L193L,ENSG00000090863:ENST00000205061:exon4:c.G612A:p.L204L,ENSG00000090863:ENST00000422840:exon4:c.G612A:p.L204L,ENSG00000090863:ENST00000562090:exon4:c.G612A:p.L204L,ENSG00000090863:ENST00000565474:exon4:c.G15A:p.L5L,ENSG00000090863:ENST00000567951:exon4:c.G612A:p.L204L Score=652;Name=lod=598 NA 16q23.1 NA NA Name=4 NA rs4887772 0.7 0.7 0.714 0.729233 0.6322 0.8313 0.6873 0.7194 0.7669 0.62 0.83 0.66 0.72 0.6823 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 1.050194 NA NA 0.638721 0.69586 NA 0.732 NA 5.7134456 1089 10 30317073 30317073 G A exonic KIAA1462 NA synonymous SNV KIAA1462:NM_020848:exon3:c.C2004T:p.H668H exonic ENSG00000165757 NA synonymous SNV ENSG00000165757:ENST00000375377:exon3:c.C2004T:p.H668H NA NA 10p11.23 NA NA Name=52 NA rs9337951 0.17 0.17 0.146 0.14996 0.3489 0.0228 0.2565 0.0234 0.1718 0.34 0.03 0.25 0.03 0.2678 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044511 NA NA 0.336582 0.067644 NA 0.268 NA 5.7133846 1089 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=NF-YB,TAL1_(SC-12984),eGFP-JunD,FOSL1_(SC-183),c-Jun,NF-YA,GATA-1,Pol2 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 1089 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$CEBP_C NA NA NA rs1047735 0.36 0.36 0.339 0.346446 0.3151 0.502 0.5231 0.1982 0.2935 0.33 0.46 0.5 0.19 0.3365 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.830664 NA NA 0.301948 0.175279 NA 0.362 NA 5.7131186 1089 1 236883421 236883421 C T exonic ACTN2 NA synonymous SNV ACTN2:NM_001103:exon4:c.C378T:p.N126N exonic ENSG00000077522 NA synonymous SNV ENSG00000077522:ENST00000366578:exon4:c.C378T:p.N126N,ENSG00000077522:ENST00000542672:exon4:c.C378T:p.N126N Score=652;Name=lod=595 NA 1q43 Score=811;Name=V$IRF7_01 NA NA NA rs1341863 0.94 0.94 0.942 0.920727 0.996 0.9831 0.8559 0.8139 0.9693 1 0.98 0.89 0.84 0.9624 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.01672 NA NA 0.995349 0.825238 NA 0.949 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036911.1;CLNDSDB=.;CLNDSDBID=. 5.7129176 1089 1 19652684 19652684 G C intronic PQLC2 NA NA NA intronic ENSG00000040487 NA NA NA NA NA 1p36.13 NA Name=Pol2(b) Name=5 NA rs41264077 0.16 0.16 0.159 0.180911 0.2873 0.0833 0.1729 0.0688 0.3292 0.28 0.06 0.19 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 -0.568336 NA NA NA NA NA 0.275 NA 5.7127 1089 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 1089 6 117113653 117113653 T C exonic GPRC6A NA synonymous SNV GPRC6A:NM_148963:exon6:c.A2433G:p.P811P exonic ENSG00000173612 NA synonymous SNV ENSG00000173612:ENST00000368549:exon5:c.A2220G:p.P740P,ENSG00000173612:ENST00000310357:exon6:c.A2433G:p.P811P,ENSG00000173612:ENST00000530250:exon6:c.A1908G:p.P636P Score=484;Name=lod=124 NA 6q22.1 NA NA NA NA rs615199 0.33 0.33 0.299 0.30631 0.3082 0.5228 0.3674 0.1452 0.2556 0.3 0.51 0.38 0.13 0.3163 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.446731 NA NA 0.33 0.168861 ID=COSM150165;OCCURENCE=1(stomach) 0.254 NA 5.7121666 1089 19 56477710 56477710 T C exonic NLRP8 NA nonsynonymous SNV NLRP8:NM_176811:exon5:c.T2345C:p.V782A exonic ENSG00000179709 NA nonsynonymous SNV ENSG00000179709:ENST00000291971:exon5:c.T2345C:p.V782A,ENSG00000179709:ENST00000590542:exon5:c.T2345C:p.V782A NA NA 19q13.43 NA NA NA NA rs306496 0.64 0.64 0.62 0.658546 0.5239 0.6885 0.6326 0.7746 0.6278 0.52 0.69 0.62 0.77 0.5843 0.77 1 T 0.0 B 0.0 B . . 1.000 P -0.69 N 0.76 T -0.952 T 0.000 T 0.065 -1.839 0.009 1.82 0.325 0.242 4.491 -1.838815 NA 1 0.513023 0.749433 NA 0.522 NA 5.7121104 1089 11 20117232 20117232 T C exonic NAV2 NA synonymous SNV NAV2:NM_001111019:exon20:c.T3123C:p.H1041H,NAV2:NM_001111018:exon30:c.T5739C:p.H1913H,NAV2:NM_145117:exon30:c.T5931C:p.H1977H,NAV2:NM_182964:exon30:c.T5940C:p.H1980H,NAV2:NM_001244963:exon32:c.T6108C:p.H2036H exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000311043:exon19:c.T3123C:p.H1041H,ENSG00000166833:ENST00000533917:exon20:c.T3123C:p.H1041H,ENSG00000166833:ENST00000349880:exon30:c.T5931C:p.H1977H,ENSG00000166833:ENST00000360655:exon30:c.T5739C:p.H1913H,ENSG00000166833:ENST00000396085:exon31:c.T5940C:p.H1980H,ENSG00000166833:ENST00000396087:exon33:c.T6108C:p.H2036H,ENSG00000166833:ENST00000527559:exon34:c.T5895C:p.H1965H,ENSG00000166833:ENST00000540292:exon34:c.T5901C:p.H1967H NA NA 11p15.1 Score=851;Name=V$HAND1E47_01 NA NA NA rs2289566 0.46 0.46 0.419 0.453474 0.3012 0.8899 0.438 0.2239 0.4816 0.3 0.9 0.41 0.22 0.3778 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.506827 NA NA 0.275698 0.220835 NA 0.312 NA 5.7119686 1089 19 38949904 38949904 C T exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon19:c.C2286T:p.P762P,RYR1:NM_001042723:exon19:c.C2286T:p.P762P exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon19:c.C2286T:p.P762P,ENSG00000196218:ENST00000359596:exon19:c.C2286T:p.P762P,ENSG00000196218:ENST00000360985:exon19:c.C2286T:p.P762P NA NA 19q13.2 Score=945;Name=V$USF_C NA NA NA rs3745847 0.62 0.62 0.616 0.554113 0.6759 0.5933 0.6686 0.497 0.3845 0.68 0.6 0.7 0.49 0.6211 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 -0.018807 NA NA 0.657907 0.537222 NA 0.652 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079136.1|RCV000119595.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.7117596 1089 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 1089 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 1089 10 46999732 46999732 G A exonic GPRIN2 NA synonymous SNV GPRIN2:NM_014696:exon3:c.G852A:p.G284G exonic ENSG00000204175 NA synonymous SNV ENSG00000204175:ENST00000374314:exon1:c.G852A:p.G284G,ENSG00000204175:ENST00000374317:exon3:c.G852A:p.G284G NA NA 10q11.22 Score=937;Name=V$LYF1_01 NA NA NA rs4579877 0.47 0.47 0.43 NA NA NA NA NA NA 0.49 0.49 0.49 0.4 0.4838 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.178531 NA NA 0.472558 0.390604 NA 0.399 NA 5.7103086 1089 21 33887131 33887131 G A exonic EVA1C NA synonymous SNV EVA1C:NM_058187:exon8:c.G957A:p.P319P exonic ENSG00000166979 NA synonymous SNV ENSG00000166979:ENST00000401402:exon7:c.G813A:p.P271P,ENSG00000166979:ENST00000300255:exon8:c.G957A:p.P319P,ENSG00000166979:ENST00000382699:exon8:c.G948A:p.P316P NA NA 21q22.11 Score=940;Name=V$ZIC1_01 NA NA NA rs1129157 0.49 0.49 0.481 0.490815 0.2922 0.631 0.5072 0.5976 0.3947 0.3 0.68 0.48 0.59 0.3894 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.050839 NA NA 0.274767 0.557649 NA 0.464 NA 5.7102996 1089 16 23200848 23200848 T C exonic SCNN1G NA synonymous SNV SCNN1G:NM_001039:exon3:c.T474C:p.I158I exonic ENSG00000166828 NA synonymous SNV ENSG00000166828:ENST00000300061:exon3:c.T474C:p.I158I Score=259;Name=lod=15 NA 16p12.2 NA NA NA NA rs5735 0.25 0.25 0.192 0.239217 0.335 0.1677 0.3934 0.1331 0.2485 0.33 0.18 0.34 0.13 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 -0.478533 NA NA 0.32093 0.169094 NA 0.116 NA 5.7089366 1089 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 1089 11 559016 559016 C T intronic C11orf35 NA NA NA exonic ENSG00000185522 NA nonsynonymous SNV ENSG00000185522:ENST00000486629:exon2:c.G28A:p.E10K NA NA 11p15.5 NA Name=CTCF,ZBTB7A_(SC-34508) NA NA rs3943356 0.77 0.77 0.73 0.758187 0.8211 0.8591 0.8545 0.5628 0.7853 0.81 0.86 0.84 0.54 0.8112 0.86 . . . . . . . . 1.000 P . . 0.66 T -1.054 T 0.000 T 0.157 2.653 14.83 2.75 0.872 0.653 8.454 2.653093 2.653093 NA 0.825541 0.599046 NA 0.761 NA 5.7088257 1089 8 145689915 145689915 G A exonic CYHR1 NA synonymous SNV CYHR1:NM_138496:exon2:c.C174T:p.H58H,CYHR1:NM_001129888:exon3:c.C174T:p.H58H,CYHR1:NM_032687:exon3:c.C174T:p.H58H exonic ENSG00000187954 NA synonymous SNV ENSG00000187954:ENST00000403000:exon2:c.C174T:p.H58H,ENSG00000187954:ENST00000438911:exon2:c.C174T:p.H58H,ENSG00000187954:ENST00000306145:exon3:c.C174T:p.H58H,ENSG00000187954:ENST00000424149:exon3:c.C174T:p.H58H,ENSG00000187954:ENST00000533764:exon3:c.C174T:p.H58H Score=317;Name=lod=26 NA 8q24.3 Score=839;Name=V$PAX4_01 NA Name=8 NA rs2721167 0.9 0.9 0.903 0.914137 0.998 0.8075 0.9236 0.8654 0.9969 1 0.8 0.93 0.84 0.9638 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.530991 NA NA 0.996045 0.906676 NA 0.906 NA 5.7088216 1089 16 23200761 23200761 T C exonic SCNN1G NA synonymous SNV SCNN1G:NM_001039:exon3:c.T387C:p.Y129Y exonic ENSG00000166828 NA synonymous SNV ENSG00000166828:ENST00000300061:exon3:c.T387C:p.Y129Y NA NA 16p12.2 Score=899;Name=V$SRF_Q6 NA NA NA rs5734 0.25 0.25 0.199 0.239018 0.335 0.1677 0.3934 0.1324 0.2485 0.33 0.18 0.34 0.13 0.3023 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.516166 NA NA 0.320814 0.168867 NA 0.109 NA 5.7085526 1089 12 13061294 13061294 C T exonic GPRC5A NA synonymous SNV GPRC5A:NM_003979:exon2:c.C111T:p.A37A exonic ENSG00000013588 NA synonymous SNV ENSG00000013588:ENST00000014914:exon2:c.C111T:p.A37A,ENSG00000013588:ENST00000534831:exon2:c.C111T:p.A37A NA NA 12p13.1 NA Name=Pol2 NA NA rs2075288 0.38 0.38 0.359 0.361621 0.331 0.7173 0.4481 0.0401 0.3998 0.33 0.73 0.41 0.04 0.3479 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 0.552193 NA NA 0.279767 0.073309 NA 0.159 NA 5.7079996 1089 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 1089 3 140406947 140406947 G A exonic TRIM42 NA nonsynonymous SNV TRIM42:NM_152616:exon3:c.G1423A:p.V475M exonic ENSG00000155890 NA nonsynonymous SNV ENSG00000155890:ENST00000286349:exon3:c.G1423A:p.V475M NA NA 3q23 NA NA NA NA rs28594654 0.43 0.43 0.427 0.400559 0.5328 0.3899 0.5058 0.2655 0.3834 0.52 0.36 0.49 0.3 0.5133 0.58 0.49 T 0.0 B 0.0 B 0.047 N 1.000 P -0.345 N 1.18 T -0.934 T 0.000 T 0.049 -1.104 0.139 1.79 0.488 0.379 4.426 -1.104067 NA 0.65 0.579419 0.310486 NA 0.406 NA 5.7078144 1089 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 1089 18 44560429 44560429 C A exonic TCEB3B NA nonsynonymous SNV TCEB3B:NM_016427:exon1:c.G1207T:p.A403S exonic ENSG00000206181 NA nonsynonymous SNV ENSG00000206181:ENST00000332567:exon1:c.G1207T:p.A403S NA NA 18q21.1 NA NA NA NA rs892586 0.58 0.58 0.574 0.596845 0.5268 0.6518 0.6772 0.5726 0.5879 0.53 0.64 0.63 0.56 0.571 0.64 1 T 0.0 B 0.0 B 0.979 N 1.000 P -0.55 N 3.37 T -0.960 T 0.000 T 0.025 -1.917 0.008 -0.254 -0.396 -0.515 2.906 -1.916769 NA 1 0.528256 0.585111 NA 0.572 NA 5.7072774 1089 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 1089 5 53814394 53814394 T C exonic SNX18 NA synonymous SNV SNX18:NM_001102575:exon1:c.T612C:p.G204G,SNX18:NM_001145427:exon1:c.T612C:p.G204G,SNX18:NM_052870:exon1:c.T612C:p.G204G exonic ENSG00000178996 NA synonymous SNV ENSG00000178996:ENST00000326277:exon1:c.T612C:p.G204G,ENSG00000178996:ENST00000343017:exon1:c.T612C:p.G204G,ENSG00000178996:ENST00000381410:exon1:c.T612C:p.G204G Score=506;Name=lod=152 NA 5q11.2 Score=820;Name=V$RFX1_01 NA Name=40 NA rs2548614 0.99 0.99 0.992 0.989217 0.9901 1 0.9942 0.9735 0.9949 0.99 1 0.99 0.98 0.9869 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.521135 NA NA 0.982712 0.977761 NA 0.754 NA 5.7069546 1089 22 44372632 44372632 C T exonic SAMM50 NA synonymous SNV SAMM50:NM_015380:exon9:c.C780T:p.H260H exonic ENSG00000100347 NA synonymous SNV ENSG00000100347:ENST00000396202:exon8:c.C150T:p.H50H,ENSG00000100347:ENST00000350028:exon9:c.C780T:p.H260H Score=523;Name=lod=178 NA 22q13.31 NA NA NA NA rs14315 0.44 0.44 0.459 0.470847 0.326 0.4613 0.3876 0.615 0.4939 0.33 0.5 0.35 0.6 0.3631 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.018713 NA NA 0.27093 0.561053 ID=COSM149311;OCCURENCE=1(stomach) 0.435 NA 5.7066366 1089 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 1089 10 23408278 23408278 C T exonic MSRB2 NA synonymous SNV MSRB2:NM_012228:exon4:c.C342T:p.S114S exonic ENSG00000148450 NA synonymous SNV ENSG00000148450:ENST00000376510:exon4:c.C342T:p.S114S NA NA 10p12.2 Score=842;Name=V$IRF7_01 NA NA NA rs7427 0.23 0.23 0.245 0.225639 0.327 0.123 0.1571 0.2315 0.2679 0.32 0.14 0.19 0.25 0.2864 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.124188 3.124188 0 0.347362 0.226161 NA 0.232 NA 5.7059046 1089 1 165513463 165513463 C G ncRNA_intronic LOC400794 NA NA NA ncRNA_UTR5 ENSG00000162763 NA NA NA Score=543;Name=lod=214 NA 1q24.1 NA NA Name=22 NA rs285444 0.92 0.92 0.852 0.884185 0.9612 0.999 0.951 0.6619 0.9397 0.97 1 0.95 0.7 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.775362 NA NA NA NA NA 0.877 NA 5.7054666 1090 2 101638888 101638888 A G exonic TBC1D8 NA synonymous SNV TBC1D8:NM_001102426:exon16:c.T2571C:p.D857D exonic ENSG00000204634 NA synonymous SNV ENSG00000204634:ENST00000376840:exon16:c.T2571C:p.D857D,ENSG00000204634:ENST00000409318:exon16:c.T2616C:p.D872D NA NA 2q11.2 Score=957;Name=V$CDPCR3HD_01 Name=Pol2 NA NA rs3739014 0.55 0.55 0.554 0.526957 0.6829 0.2946 0.5533 0.5227 0.593 0.68 0.36 0.63 0.51 0.6097 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.732846 NA NA 0.669141 0.575795 NA 0.63 NA 5.7049256 1090 X 148798223 148798223 T C exonic MAGEA11 NA synonymous SNV MAGEA11:NM_001011544:exon5:c.T990C:p.L330L,MAGEA11:NM_005366:exon5:c.T1077C:p.L359L exonic ENSG00000185247 NA synonymous SNV ENSG00000185247:ENST00000333104:exon4:c.T990C:p.L330L,ENSG00000185247:ENST00000355220:exon5:c.T1077C:p.L359L NA NA Xq28 NA Name=PU.1 NA NA rs2233050 0.53 0.53 0.51033 NA NA NA NA NA NA 0.5 0.25 0.64 0.82 0.479 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 -0.581864 NA NA 0.482907 0.80704 NA 0.275 NA 5.7047596 1090 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 1090 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 1090 1 8390888 8390888 G A exonic SLC45A1 NA synonymous SNV SLC45A1:NM_001080397:exon4:c.G1335A:p.P445P exonic ENSG00000162426 NA synonymous SNV ENSG00000162426:ENST00000289877:exon4:c.G1335A:p.P445P,ENSG00000162426:ENST00000377479:exon5:c.G1437A:p.P479P,ENSG00000162426:ENST00000471889:exon5:c.G1335A:p.P445P NA Name=Breast cancer 1p36.23 NA NA NA NA rs2289731 0.33 0.33 0.338 0.340455 0.325 0.1746 0.2911 0.5363 0.2975 0.32 0.16 0.35 0.51 0.3144 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.41561 NA NA 0.323256 0.514072 ID=COSM426744;OCCURENCE=1(breast) 0.319 NA 5.7040106 1090 11 75277757 75277757 C G exonic SERPINH1 NA synonymous SNV SERPINH1:NM_001235:exon2:c.C363G:p.S121S,SERPINH1:NM_001207014:exon3:c.C363G:p.S121S exonic ENSG00000149257 NA synonymous SNV ENSG00000149257:ENST00000358171:exon2:c.C363G:p.S121S,ENSG00000149257:ENST00000524558:exon2:c.C363G:p.S121S,ENSG00000149257:ENST00000526397:exon2:c.C363G:p.S121S,ENSG00000149257:ENST00000528990:exon2:c.C363G:p.S121S,ENSG00000149257:ENST00000529643:exon2:c.C363G:p.S121S,ENSG00000149257:ENST00000525492:exon3:c.C222G:p.S74S,ENSG00000149257:ENST00000525611:exon3:c.C363G:p.S121S,ENSG00000149257:ENST00000528760:exon3:c.C363G:p.S121S,ENSG00000149257:ENST00000530284:exon3:c.C363G:p.S121S,ENSG00000149257:ENST00000532356:exon3:c.C363G:p.S121S,ENSG00000149257:ENST00000533449:exon3:c.C363G:p.S121S,ENSG00000149257:ENST00000533603:exon3:c.C363G:p.S121S Score=393;Name=lod=53 NA 11q13.5 NA NA NA NA rs650241 0.32 0.32 0.309 0.373003 0.2972 0.2103 0.3804 0.4614 0.4939 0.29 0.19 0.39 0.46 0.364 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.839037 NA NA 0.301585 0.431364 ID=COSM429862;OCCURENCE=1(breast) 0.399 NA 5.7038816 1090 1 201047111 201047111 A G exonic CACNA1S NA synonymous SNV CACNA1S:NM_000069:exon11:c.T1515C:p.C505C exonic ENSG00000081248 NA synonymous SNV ENSG00000081248:ENST00000362061:exon11:c.T1515C:p.C505C,ENSG00000081248:ENST00000367338:exon11:c.T1515C:p.C505C Score=661;Name=lod=645 NA 1q32.1 NA NA NA NA rs9427714 0.17 0.17 0.151 0.126997 0.34 0.001 0.2032 0.028 0.1176 0.34 0.0017 0.27 0.04 0.2449 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.408119 1.408119 NA 0.37814 0.078529 NA 0.217 NA 5.7036266 1090 12 2968458 2968458 T C exonic FOXM1 NA synonymous SNV FOXM1:NM_001243088:exon8:c.A1593G:p.R531R,FOXM1:NM_001243089:exon8:c.A1590G:p.R530R,FOXM1:NM_202003:exon8:c.A1593G:p.R531R,FOXM1:NM_021953:exon9:c.A1638G:p.R546R,FOXM1:NM_202002:exon10:c.A1752G:p.R584R exonic ENSG00000111206 NA synonymous SNV ENSG00000111206:ENST00000361953:exon8:c.A1593G:p.R531R,ENSG00000111206:ENST00000359843:exon9:c.A1638G:p.R546R,ENSG00000111206:ENST00000342628:exon10:c.A1752G:p.R584R Score=481;Name=lod=120 NA 12p13.33 NA Name=CTCF Name=7 NA rs2215292 1 1 0.999 0.997204 0.992 1 0.9928 1 0.999 0.99 1 0.99 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 1.244804 1.244804 NA 0.981279 0.996142 NA 1 NA 5.7034876 1090 1 165513456 165513456 A T ncRNA_intronic LOC400794 NA NA NA ncRNA_UTR5 ENSG00000162763 NA NA NA Score=543;Name=lod=214 NA 1q24.1 NA NA Name=22 NA rs285445 0.94 0.94 0.921 0.919529 0.9632 1 0.9539 0.7912 0.9407 0.97 1 0.96 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 -0.037935 NA NA NA NA NA 0.884 NA 5.7034666 1090 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 1090 5 64064943 64064943 G A UTR5 CWC27 NM_005869:c.-31G>A NA NA UTR5 ENSG00000153015 ENST00000381070:c.-31G>A,ENST00000508024:c.-31G>A NA NA NA NA 5q12.3 NA Name=Pol2,Pol2-4H8,NFKB,TAF1,ELF1_(SC-631),HEY1,YY1 Name=148 NA rs1363953 0.41 0.41 0.451 0.461262 0.1779 0.5357 0.2003 0.848 0.3384 0.17 0.52 0.22 0.81 0.2694 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 0.88423 NA NA 0.182907 0.731956 NA 0.536 NA 5.7031264 1090 14 105414790 105414790 A G exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.T6998C:p.L2333P exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.T6998C:p.L2333P NA NA 14q32.33 NA NA NA NA rs2582513 0.54 0.54 0.564 0.563099 0.5338 0.4276 0.536 0.6528 0.6309 0.53 0.41 0.58 0.67 0.5512 0.67 0.46 T 0.0 B 0.0 B . . 1.000 P -3.425 N 6.88 T -0.971 T 0.000 T 0.054 -0.991 0.274 1.84 0.140 -0.260 4.436 -0.990626 NA 0.42 0.545476 0.665041 NA 0.58 NA 5.7028574 1090 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 1090 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 1090 6 37139322 37139322 T C intronic PIM1 NA NA NA intronic ENSG00000137193 NA NA NA NA NA 6p21.2 NA Name=Pol2,Ini1,TAF1,HMGN3,GATA-1,Sin3Ak-20,Pol2(b),ZNF263 Name=54 NA rs262938 0.41 0.41 0.367 0.456669 0.2982 0.4157 0.3588 0.68 0.4294 0.3 0.37 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 0.661281 NA NA NA NA NA 0.413 NA 5.7018 1090 2 231050715 231050715 A G exonic SP110 NA nonsynonymous SNV SP110:NM_004509:exon11:c.T1274C:p.L425S,SP110:NM_004510:exon11:c.T1274C:p.L425S,SP110:NM_080424:exon11:c.T1274C:p.L425S,SP110:NM_001185015:exon12:c.T1292C:p.L431S exonic ENSG00000135899 NA nonsynonymous SNV ENSG00000135899:ENST00000338556:exon10:c.T380C:p.L127S,ENSG00000135899:ENST00000258381:exon11:c.T1274C:p.L425S,ENSG00000135899:ENST00000258382:exon11:c.T1274C:p.L425S,ENSG00000135899:ENST00000358662:exon11:c.T1274C:p.L425S,ENSG00000135899:ENST00000392048:exon11:c.T1268C:p.L423S,ENSG00000135899:ENST00000540870:exon12:c.T1292C:p.L431S NA NA 2q37.1 NA NA NA NA rs3948464 0.9 0.9 0.906 0.903954 0.8748 0.995 0.8746 0.848 0.9366 0.88 1 0.87 0.83 0.8869 1 0.32 T 0.0 B 0.001 B 0.733 N 1.000 P -0.115 N 2.57 T -1.008 T 0.000 T 0.17 -1.171 0.089 -1.77 -0.896 -0.364 3.598 -1.170752 NA 0.35 0.871047 0.846346 NA 0.848 CLINSIG=other;CLNDBN=Mycobacterium_tuberculosis\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000005877.1;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C1834752:607948:ORPHA3389 5.7005864 1090 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 1090 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 1090 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,CTCF,E2F6_(H-50) 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 1090 1 221912361 221912361 T C exonic DUSP10 NA synonymous SNV DUSP10:NM_007207:exon2:c.A726G:p.E242E exonic ENSG00000143507 NA synonymous SNV ENSG00000143507:ENST00000366899:exon2:c.A726G:p.E242E Score=663;Name=lod=662 NA 1q41 NA Name=eGFP-GATA2 NA NA rs1141714 0.69 0.69 0.683 0.720248 0.6412 0.6736 0.6816 0.8313 0.727 0.64 0.67 0.69 0.81 0.6737 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 0.66998 NA NA 0.651512 0.819564 NA 0.696 NA 5.7002546 1090 3 52407041 52407041 C T exonic DNAH1 NA synonymous SNV DNAH1:NM_015512:exon44:c.C6957T:p.H2319H exonic ENSG00000114841 NA synonymous SNV ENSG00000114841:ENST00000420323:exon44:c.C6957T:p.H2319H Score=491;Name=lod=132 NA 3p21.1 NA NA NA NA rs1546737 0.23 0.23 0.237 0.200479 0.3459 0.1776 0.2651 0.0129 0.2822 0.35 0.22 0.27 0.02 0.2896 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.254699 1.254699 NA 0.331031 0.062047 NA 0.145 NA 5.7001356 1090 X 130416958 130416958 C T exonic IGSF1 NA synonymous SNV IGSF1:NM_001170962:exon5:c.G921A:p.V307V,IGSF1:NM_001170961:exon6:c.G948A:p.V316V,IGSF1:NM_001555:exon6:c.G948A:p.V316V exonic ENSG00000147255 NA synonymous SNV ENSG00000147255:ENST00000370910:exon5:c.G921A:p.V307V,ENSG00000147255:ENST00000361420:exon6:c.G948A:p.V316V,ENSG00000147255:ENST00000370903:exon6:c.G948A:p.V316V,ENSG00000147255:ENST00000370904:exon12:c.G921A:p.V307V Score=485;Name=lod=125 NA Xq26.2 Score=863;Name=V$RORA2_01 NA NA NA rs5932877 0.92 0.92 NA NA NA NA NA NA NA 1 1 0.97 0.69 0.9683 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.67963 NA NA 0.999108 0.693611 NA 0.681 NA 5.6992586 1090 6 74125888 74125888 A G exonic DDX43 NA nonsynonymous SNV DDX43:NM_018665:exon16:c.A1886G:p.Q629R exonic ENSG00000080007 NA nonsynonymous SNV ENSG00000080007:ENST00000370336:exon16:c.A1886G:p.Q629R NA NA 6q13 NA NA NA NA rs311685 0.49 0.49 0.472 0.490415 0.5726 0.5456 0.4467 0.3071 0.6278 0.58 0.55 0.46 0.31 0.5181 0.58 0.45 T 0.002 B 0.003 B 0.944 N 1.000 P 1.155 L 2.48 T -0.926 T 0.009 T 0.027 -1.097 0.146 1.26 0.054 0.549 7.139 -1.096552 NA 0.47 0.543837 0.370631 NA 0.63 NA 5.6987964 1090 X 48049666 48049666 C T exonic SSX5 NA synonymous SNV SSX5:NM_175723:exon6:c.G369A:p.S123S,SSX5:NM_021015:exon7:c.G492A:p.S164S exonic ENSG00000165583 NA synonymous SNV ENSG00000165583:ENST00000403001:exon2:c.G189A:p.S63S,ENSG00000165583:ENST00000376923:exon5:c.G369A:p.S123S,ENSG00000165583:ENST00000347757:exon6:c.G369A:p.S123S,ENSG00000165583:ENST00000311798:exon7:c.G492A:p.S164S NA NA Xp11.23 NA Name=c-Fos,c-Jun,GATA-2 Name=14 NA rs5906557 0.93 0.93 0.91574 NA NA NA NA NA NA 1 1 0.97 0.71 0.9692 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.432947 NA NA 0.999108 0.708996 NA 0.667 NA 5.6983586 1090 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 1090 1 236700823 236700823 T C exonic LGALS8 NA synonymous SNV LGALS8:NM_201544:exon3:c.T72C:p.P24P,LGALS8:NM_006499:exon4:c.T72C:p.P24P,LGALS8:NM_201543:exon4:c.T72C:p.P24P,LGALS8:NM_201545:exon4:c.T72C:p.P24P exonic ENSG00000116977 NA synonymous SNV ENSG00000116977:ENST00000525042:exon2:c.T72C:p.P24P,ENSG00000116977:ENST00000238181:exon3:c.T72C:p.P24P,ENSG00000116977:ENST00000323938:exon3:c.T72C:p.P24P,ENSG00000116977:ENST00000366584:exon3:c.T72C:p.P24P,ENSG00000116977:ENST00000416919:exon3:c.T72C:p.P24P,ENSG00000116977:ENST00000442397:exon3:c.T72C:p.P24P,ENSG00000116977:ENST00000526634:exon3:c.T72C:p.P24P,ENSG00000116977:ENST00000527974:exon3:c.T72C:p.P24P,ENSG00000116977:ENST00000341872:exon4:c.T72C:p.P24P,ENSG00000116977:ENST00000352231:exon4:c.T72C:p.P24P,ENSG00000116977:ENST00000430527:exon4:c.T72C:p.P24P,ENSG00000116977:ENST00000450372:exon4:c.T72C:p.P24P,ENSG00000116977:ENST00000481485:exon4:c.T72C:p.P24P,ENSG00000116977:ENST00000529489:exon4:c.T72C:p.P24P,ENSG00000116977:ENST00000454943:exon5:c.T72C:p.P24P,ENSG00000116977:ENST00000406509:exon6:c.T72C:p.P24P,ENSG00000116977:ENST00000526589:exon6:c.T72C:p.P24P Score=463;Name=lod=102 NA 1q43 NA Name=MafK_(ab50322) NA NA rs1041934 0.56 0.56 0.517 0.5 0.6759 0.4762 0.5072 0.4455 0.4121 0.68 0.49 0.54 0.47 0.61 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.586971 NA NA 0.682442 0.492283 ID=COSM146830;OCCURENCE=1(stomach) 0.5 NA 5.6983246 1090 12 70928616 70928616 G A exonic PTPRB NA synonymous SNV PTPRB:NM_001206971:exon27:c.C5277T:p.C1759C,PTPRB:NM_001206972:exon27:c.C5277T:p.C1759C,PTPRB:NM_002837:exon28:c.C5547T:p.C1849C,PTPRB:NM_001109754:exon30:c.C6201T:p.C2067C exonic ENSG00000127329 NA synonymous SNV ENSG00000127329:ENST00000451516:exon27:c.C5277T:p.C1759C,ENSG00000127329:ENST00000538708:exon27:c.C5277T:p.C1759C,ENSG00000127329:ENST00000550857:exon27:c.C5277T:p.C1759C,ENSG00000127329:ENST00000261266:exon28:c.C5547T:p.C1849C,ENSG00000127329:ENST00000550358:exon29:c.C5937T:p.C1979C,ENSG00000127329:ENST00000334414:exon30:c.C6201T:p.C2067C Score=556;Name=lod=243 NA 12q15 NA NA NA NA rs3752703 0.38 0.38 0.381 0.391573 0.3062 0.5278 0.3357 0.4539 0.2945 0.3 0.5 0.32 0.4 0.3482 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.680379 NA NA 0.314049 0.416027 ID=COSM1364005,COSM1364003,COSM1364004;OCCURENCE=1(large_intestine) 0.348 NA 5.6982176 1090 11 66335548 66335548 A G exonic CTSF NA synonymous SNV CTSF:NM_003793:exon2:c.T219C:p.G73G exonic ENSG00000174080 NA synonymous SNV ENSG00000174080:ENST00000310325:exon2:c.T219C:p.G73G NA NA 11q13.2 NA Name=CTCF NA NA rs1127894 0.58 0.58 0.522 0.582668 0.5378 0.5407 0.415 0.8767 0.3937 0.51 0.55 0.44 0.84 0.4308 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 -0.648281 NA NA NA NA ID=COSM429664;OCCURENCE=2(breast),2(large_intestine) 0.384 NA 5.6980666 1090 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=Pol2,Pol2-4H8,c-Myc,ZNF263 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 1090 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 1090 3 186440243 186440243 G A exonic KNG1 NA synonymous SNV KNG1:NM_000893:exon3:c.G324A:p.T108T,KNG1:NM_001102416:exon3:c.G324A:p.T108T,KNG1:NM_001166451:exon3:c.G324A:p.T108T exonic ENSG00000113889 NA synonymous SNV ENSG00000113889:ENST00000265023:exon3:c.G324A:p.T108T,ENSG00000113889:ENST00000287611:exon3:c.G324A:p.T108T,ENSG00000113889:ENST00000447445:exon3:c.G324A:p.T108T NA NA 3q27.3 NA Name=CTCF NA NA rs1469859 0.27 0.27 0.216 0.24401 0.335 0.2133 0.3876 0.1551 0.2004 0.33 0.21 0.39 0.15 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 -0.012856 NA 0 0.331744 0.169768 NA 0.355 NA 5.6976226 1090 16 3811596 3811596 C T intronic CREBBP NA NA NA intronic ENSG00000005339 NA NA NA NA NA 16p13.3 NA Name=USF1_(SC-8983) Name=6 NA rs11076786 0.14 0.14 0.146 0.140176 0.0984 0.1736 0.0663 0.2466 0.0573 0.1 0.18 0.07 0.23 0.106 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.909415 NA NA 0.098443 0.231164 NA 0.13 NA 5.697157 1090 13 46641466 46641466 A G exonic CPB2 NA synonymous SNV CPB2:NM_001872:exon7:c.T678C:p.D226D exonic ENSG00000080618 NA synonymous SNV ENSG00000080618:ENST00000181383:exon7:c.T678C:p.D226D Score=449;Name=lod=89 NA 13q14.13 NA NA NA NA rs9316179 0.34 0.34 0.336 0.307508 0.335 0.2569 0.3069 0.4244 0.1738 0.35 0.28 0.32 0.41 0.3111 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.020925 NA NA 0.323488 0.388561 NA 0.406 NA 5.6970786 1090 8 144416901 144416901 A C intronic TOP1MT NA NA NA intronic ENSG00000184428 NA NA NA NA NA 8q24.3 NA Name=ELK4,CCNT2,Sin3Ak-20,STAT3,Mxi1_(bHLH),c-Myc,Nrf1,ELF1_(SC-631),ETS1,TAF1,Pol2-4H8,GABP,E2F6,Pol2 Name=137 NA rs2450775 0.21 0.21 0.188 0.235423 0.0835 0.0813 0.1037 0.6649 0.0634 0.08 0.09 0.12 0.6 0.1256 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.613428 NA NA 0.093881 0.55262 NA 0.239 NA 5.697019 1090 17 6331803 6331803 T C exonic AIPL1 NA synonymous SNV AIPL1:NM_001033055:exon2:c.A120G:p.L40L,AIPL1:NM_014336:exon3:c.A300G:p.L100L exonic ENSG00000129221 NA synonymous SNV ENSG00000129221:ENST00000576307:exon2:c.A120G:p.L40L,ENSG00000129221:ENST00000381129:exon3:c.A300G:p.L100L,ENSG00000129221:ENST00000570466:exon3:c.A234G:p.L78L,ENSG00000129221:ENST00000571740:exon3:c.A300G:p.L100L,ENSG00000129221:ENST00000574506:exon3:c.A264G:p.L88L,ENSG00000129221:ENST00000574913:exon3:c.A300G:p.L100L,ENSG00000129221:ENST00000575265:exon3:c.A300G:p.L100L,ENSG00000129221:ENST00000576776:exon3:c.A300G:p.L100L Score=519;Name=lod=172 NA 17p13.2 Score=825;Name=V$EVI1_04 NA NA NA rs8075035 0.59 0.59 0.563 0.575879 0.6759 0.5367 0.6758 0.4569 0.6033 0.67 0.53 0.66 0.49 0.6346 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 1.010305 NA NA 0.659186 0.5 NA 0.551 NA 5.6969806 1090 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$MRF2_01 NA NA NA rs1056932 0.61 0.61 0.563 0.565296 0.672 0.7956 0.7536 0.1104 0.6994 0.66 0.84 0.74 0.17 0.6435 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560869 NA NA 0.654419 0.190876 NA 0.601 NA 5.6967476 1090 3 4829732 4829732 A G exonic ITPR1 NA synonymous SNV ITPR1:NM_002222:exon48:c.A6528G:p.T2176T,ITPR1:NM_001099952:exon49:c.A6573G:p.T2191T,ITPR1:NM_001168272:exon51:c.A6672G:p.T2224T exonic ENSG00000150995 NA synonymous SNV ENSG00000150995:ENST00000456211:exon48:c.A6528G:p.T2176T,ENSG00000150995:ENST00000357086:exon49:c.A6573G:p.T2191T,ENSG00000150995:ENST00000423119:exon49:c.A6573G:p.T2191T,ENSG00000150995:ENST00000443694:exon49:c.A6672G:p.T2224T,ENSG00000150995:ENST00000302640:exon51:c.A6672G:p.T2224T,ENSG00000150995:ENST00000354582:exon51:c.A6672G:p.T2224T NA NA 3p26.1 NA NA NA NA rs13079522 0.23 0.23 0.237 0.245607 0.3191 0.0923 0.2133 0.2716 0.316 0.32 0.09 0.2 0.29 0.3294 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608901 NA NA 0.32209 0.267287 NA 0.174 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117302.2;CLNDSDB=.;CLNDSDBID=. 5.6960766 1090 10 65225450 65225450 C T ncRNA_exonic JMJD1C-AS1 NA NA NA UTR5 ENSG00000171988 ENST00000399262:c.-28G>A,ENST00000399251:c.-248463G>A NA NA NA NA 10q21.3 NA Name=Pol2-4H8,YY1_(C-20),YY1 Name=144 NA rs1054693 0.14 0.14 0.148 0.117412 0.2873 0.0149 0.1556 0.025 0.1462 0.31 0.01 0.16 0.03 0.2407 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.392407 2.392407 NA 0.276056 0.047465 NA 0.123 NA 5.695944 1090 8 145693720 145693720 A G exonic KIFC2 NA synonymous SNV KIFC2:NM_145754:exon8:c.A819G:p.A273A exonic ENSG00000167702 NA synonymous SNV ENSG00000167702:ENST00000301331:exon4:c.A63G:p.A21A,ENSG00000167702:ENST00000301332:exon8:c.A819G:p.A273A Score=363;Name=lod=40 NA 8q24.3 Score=864;Name=V$SPZ1_01 NA NA NA rs2250657 0.93 0.93 0.94 0.95028 0.998 0.8075 0.928 0.9992 0.998 1 0.8 0.93 0.99 0.9738 1 . . . . . . . . 0.000 P . . . . -1.002 T 0.000 T . 1.306 10.28 -1.55 -0.771 -0.078 9.453 1.306169 1.306169 NA 0.998953 0.999318 NA 0.797 NA 5.6959136 1090 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 1090 1 76344705 76344705 T C exonic MSH4 NA synonymous SNV MSH4:NM_002440:exon12:c.T1569C:p.Y523Y exonic ENSG00000057468 NA synonymous SNV ENSG00000057468:ENST00000263187:exon12:c.T1569C:p.Y523Y Score=604;Name=lod=379 NA 1p31.1 NA NA NA NA rs5745448 0.32 0.32 0.32 0.33746 0.3022 0.6964 0.2349 0.0242 0.5 0.32 0.62 0.24 0.03 0.345 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.442942 NA NA 0.323796 0.086246 NA 0.42 NA 5.6956706 1090 1 95367669 95367669 G A intronic CNN3 NA NA NA intronic ENSG00000117519 NA NA NA NA NA 1p21.3 NA Name=CEBPB,KAP1 Name=19 NA rs2275613 0.07 0.07 0.066 0.071885 0.1034 0.0565 0.072 0.0772 0.0481 0.09 0.05 0.09 0.05 0.0896 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 0.274446 NA NA 0.111628 0.072628 ID=COSM146566;OCCURENCE=1(stomach) 0.181 NA 5.695372 1091 3 123452838 123452838 G A exonic MYLK NA synonymous SNV MYLK:NM_053025:exon10:c.C1005T:p.T335T,MYLK:NM_053026:exon10:c.C1005T:p.T335T,MYLK:NM_053027:exon10:c.C1005T:p.T335T,MYLK:NM_053028:exon10:c.C1005T:p.T335T exonic ENSG00000065534 NA synonymous SNV ENSG00000065534:ENST00000475616:exon7:c.C1005T:p.T335T,ENSG00000065534:ENST00000346322:exon10:c.C1005T:p.T335T,ENSG00000065534:ENST00000359169:exon10:c.C1005T:p.T335T,ENSG00000065534:ENST00000360304:exon10:c.C1005T:p.T335T,ENSG00000065534:ENST00000360772:exon11:c.C1005T:p.T335T NA NA 3q21.1 Score=731;Name=V$SEF1_C NA Name=8 NA rs4678047 0.67 0.67 0.638 0.632788 0.6491 0.9375 0.7262 0.3623 0.6012 0.64 0.96 0.71 0.37 0.6566 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 0.229652 NA NA 0.667791 0.391966 NA 0.674 NA 5.6931756 1091 5 115336862 115336862 T C exonic AQPEP NA synonymous SNV AQPEP:NM_173800:exon10:c.T1746C:p.N582N exonic ENSG00000172901 NA synonymous SNV ENSG00000172901:ENST00000503329:exon5:c.T297C:p.N99N,ENSG00000172901:ENST00000512314:exon5:c.T297C:p.N99N,ENSG00000172901:ENST00000514509:exon5:c.T297C:p.N99N,ENSG00000172901:ENST00000357872:exon10:c.T1746C:p.N582N,ENSG00000172901:ENST00000395528:exon10:c.T297C:p.N99N,ENSG00000172901:ENST00000504467:exon10:c.T1746C:p.N582N Score=461;Name=lod=100 NA 5q23.1 NA NA NA NA rs7712021 0.28 0.28 0.278 0.254792 0.334 0.2252 0.2435 0.3071 0.1411 0.33 0.23 0.27 0.29 0.2895 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.115182 NA NA 0.350233 0.310854 NA 0.283 NA 5.6929336 1091 21 43852232 43852232 C T exonic UBASH3A NA synonymous SNV UBASH3A:NM_001001895:exon8:c.C1077T:p.S359S,UBASH3A:NM_001243467:exon8:c.C1077T:p.S359S,UBASH3A:NM_018961:exon9:c.C1191T:p.S397S exonic ENSG00000160185 NA synonymous SNV ENSG00000160185:ENST00000291535:exon8:c.C1077T:p.S359S,ENSG00000160185:ENST00000398367:exon8:c.C1077T:p.S359S,ENSG00000160185:ENST00000319294:exon9:c.C1191T:p.S397S NA NA 21q22.3 NA Name=E2F6_(H-50) NA NA rs13052676 0.27 0.27 0.269 0.25619 0.331 0.2232 0.2608 0.1921 0.2965 0.34 0.22 0.29 0.2 0.3171 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.961577 NA NA 0.326628 0.221062 NA 0.246 NA 5.6919386 1091 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=YY1,CCNT2,AP-2gamma,TR4,Egr-1,PAX5-N19,Pol2(b),JunD,SP1,Nrf1,c-Myc,BATF,Oct-2,YY1_(C-20),ZBTB33,GCN5,NRSF,MEF2C_(SC-13268),Sin3Ak-20,Pol2-4H8,SP2_(SC-643),GABP,BCL3,NFKB,ZEB1_(SC-25388),HMGN3,TAF1,BCLAF1_(M33-P5B11),GATA-1,p300_(F-4),ETS1,HEY1,ELF1_(SC-631),CHD2_(N-1250),GATA2_(CG2-96),USF-1,Pol2(phosphoS2),POU5F1_(SC-9081),Pol2,USF2,FOSL2,POU2F2,TAF7_(SQ-8),TCF12 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 1091 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 1091 5 53815495 53815495 A C exonic SNX18 NA nonsynonymous SNV SNX18:NM_001145427:exon1:c.A1713C:p.E571D,SNX18:NM_052870:exon1:c.A1713C:p.E571D exonic ENSG00000178996 NA nonsynonymous SNV ENSG00000178996:ENST00000326277:exon1:c.A1713C:p.E571D,ENSG00000178996:ENST00000343017:exon1:c.A1713C:p.E571D NA NA 5q11.2 NA NA NA NA rs2548612 0.52 0.52 0.5 0.486621 0.5666 0.4524 0.5303 0.4501 0.4581 0.58 0.48 0.57 0.43 0.5227 0.58 1 T 0.0 B 0.0 B 0.066 N 1.000 P 0 N 2.71 T -0.951 T 0.000 T 0.021 -1.202 0.071 -0.586 -0.498 -0.800 0.470 -1.201963 NA 0 0.552209 0.483886 NA 0.399 NA 5.6918244 1091 16 1536372 1536372 G A exonic PTX4 NA synonymous SNV PTX4:NM_001013658:exon3:c.C990T:p.P330P exonic ENSG00000251692 NA nonsynonymous SNV ENSG00000251692:ENST00000440447:exon3:c.C560T:p.P187L NA NA 16p13.3 NA NA NA NA rs28444604 0.19 0.19 0.175 0.170527 0.0964 0.4544 0.0937 0.0446 0.1789 0.1 0.5 0.08 0.04 0.1232 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.03582 NA NA 0.088721 0.047067 NA 0.181 NA 5.691679 1091 19 41622189 41622189 G A exonic CYP2F1 NA synonymous SNV CYP2F1:NM_000774:exon2:c.G96A:p.P32P exonic ENSG00000197446 NA synonymous SNV ENSG00000197446:ENST00000331105:exon2:c.G96A:p.P32P,ENSG00000197446:ENST00000532164:exon2:c.G96A:p.P32P Score=385;Name=lod=49 NA 19q13.2 NA NA NA NA rs305968 0.39 0.39 0.385 0.414137 0.3131 0.2798 0.4957 0.5787 0.3763 0.32 0.26 0.45 0.61 0.3561 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.773129 NA NA 0.306047 0.543577 NA 0.449 NA 5.6914196 1091 2 48808898 48808898 C T exonic STON1,STON1-GTF2A1L NA synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.C1126T:p.L376L,STON1-GTF2A1L:NM_001198593:exon2:c.C1126T:p.L376L,STON1:NM_006873:exon2:c.C1126T:p.L376L,STON1-GTF2A1L:NM_172311:exon2:c.C1126T:p.L376L,STON1:NM_001198595:exon3:c.C1126T:p.L376L exonic ENSG00000068781,ENSG00000243244 NA synonymous SNV ENSG00000068781:ENST00000309827:exon1:c.C1126T:p.L376L,ENSG00000243244:ENST00000309835:exon1:c.C1126T:p.L376L,ENSG00000068781:ENST00000394751:exon1:c.C1126T:p.L376L,ENSG00000068781:ENST00000394754:exon2:c.C1126T:p.L376L,ENSG00000068781:ENST00000402114:exon2:c.C1126T:p.L376L,ENSG00000243244:ENST00000404752:exon2:c.C1126T:p.L376L,ENSG00000068781:ENST00000405008:exon2:c.C1126T:p.L376L,ENSG00000243244:ENST00000406226:exon3:c.C1126T:p.L376L Score=498;Name=lod=141 NA 2p16.3 NA NA NA NA rs3749145 0.34 0.34 0.335 0.334065 0.3191 0.3879 0.3098 0.2791 0.3855 0.34 0.42 0.27 0.29 0.3364 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18823 NA NA 0.319884 0.297549 NA 0.297 NA 5.6912826 1091 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 1091 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 1091 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 1091 1 170501385 170501385 A C exonic GORAB NA synonymous SNV GORAB:NM_001146039:exon1:c.A96C:p.G32G,GORAB:NM_152281:exon1:c.A96C:p.G32G exonic ENSG00000120370 NA synonymous SNV ENSG00000120370:ENST00000367762:exon1:c.A96C:p.G32G,ENSG00000120370:ENST00000367763:exon1:c.A96C:p.G32G Score=473;Name=lod=112 NA 1q24.2 NA Name=HA-E2F1,Pol2(phosphoS2),Pol2,POU2F2,Ini1,Pol2-4H8,EBF1_(C-8),NFKB,ELF1_(SC-631),HEY1,IRF1,Oct-2,TCF4,Sin3Ak-20,TBP,Pol2(b) Name=148 NA rs7531125 0.94 0.94 0.918 0.927516 1 1 0.987 0.7322 1 1 1 0.99 0.73 0.9797 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.736283 1.736283 NA 0.997442 0.814571 NA 0.935 NA 5.6895246 1091 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 1091 8 95143172 95143172 T G exonic CDH17 NA nonsynonymous SNV CDH17:NM_001144663:exon16:c.A2216C:p.E739A,CDH17:NM_004063:exon16:c.A2216C:p.E739A exonic ENSG00000079112 NA nonsynonymous SNV ENSG00000079112:ENST00000441892:exon12:c.A1574C:p.E525A,ENSG00000079112:ENST00000027335:exon16:c.A2216C:p.E739A,ENSG00000079112:ENST00000450165:exon16:c.A2216C:p.E739A NA NA 8q22.1 NA NA NA NA rs1051624 0.49 0.49 0.472 0.442692 0.5736 0.5327 0.3948 0.2753 0.4755 0.59 0.53 0.39 0.35 0.5121 0.59 0.75 T 0.128 B 0.101 B 0.407 N 1.000 P 1.28 L 1.13 T -0.934 T 0.000 T 0.085 -1.614 0.013 0.449 -0.143 0.256 3.315 -1.614376 NA 0.54 0.558256 0.308443 NA 0.377 NA 5.6893774 1091 4 187078785 187078785 A G exonic FAM149A NA nonsynonymous SNV FAM149A:NM_001006655:exon7:c.A641G:p.H214R,FAM149A:NM_015398:exon8:c.A641G:p.H214R exonic ENSG00000109794 NA nonsynonymous SNV ENSG00000109794:ENST00000389354:exon7:c.A641G:p.H214R,ENSG00000109794:ENST00000502970:exon7:c.A641G:p.H214R,ENSG00000109794:ENST00000227065:exon8:c.A641G:p.H214R,ENSG00000109794:ENST00000356371:exon8:c.A1514G:p.H505R,ENSG00000109794:ENST00000503432:exon8:c.A641G:p.H214R,ENSG00000109794:ENST00000514153:exon8:c.A641G:p.H214R NA NA 4q35.1 NA NA NA NA rs2276924 0.89 0.89 0.886 0.889577 0.8946 0.8244 0.8602 0.9592 0.8783 0.9 0.82 0.86 0.96 0.8691 0.96 1 T 0.001 B 0.001 B 0.001 N 1.000 P -1.375 N 2.91 T -0.989 T 0.000 T 0.176 -1.139 0.111 2.01 0.070 0.289 9.476 -1.138745 NA 1 0.88093 0.942805 NA 0.797 NA 5.6887034 1091 2 48808882 48808882 T A exonic STON1,STON1-GTF2A1L NA synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.T1110A:p.P370P,STON1-GTF2A1L:NM_001198593:exon2:c.T1110A:p.P370P,STON1:NM_006873:exon2:c.T1110A:p.P370P,STON1-GTF2A1L:NM_172311:exon2:c.T1110A:p.P370P,STON1:NM_001198595:exon3:c.T1110A:p.P370P exonic ENSG00000068781,ENSG00000243244 NA synonymous SNV ENSG00000068781:ENST00000309827:exon1:c.T1110A:p.P370P,ENSG00000243244:ENST00000309835:exon1:c.T1110A:p.P370P,ENSG00000068781:ENST00000394751:exon1:c.T1110A:p.P370P,ENSG00000068781:ENST00000394754:exon2:c.T1110A:p.P370P,ENSG00000068781:ENST00000402114:exon2:c.T1110A:p.P370P,ENSG00000243244:ENST00000404752:exon2:c.T1110A:p.P370P,ENSG00000068781:ENST00000405008:exon2:c.T1110A:p.P370P,ENSG00000243244:ENST00000406226:exon3:c.T1110A:p.P370P Score=329;Name=lod=29 NA 2p16.3 NA NA NA NA rs3749144 0.34 0.34 0.34 0.336062 0.3201 0.3879 0.3112 0.2784 0.3947 0.34 0.42 0.28 0.29 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 0.343367 NA NA 0.319767 0.296868 NA 0.297 NA 5.6886996 1091 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$TAL1BETAITF2_01 NA NA NA rs850312 0.24 0.24 0.202 0.211861 0.3479 0.2034 0.3473 0.0265 0.2352 0.34 0.2 0.35 0.04 0.2908 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038449 NA NA 0.339302 0.067862 ID=COSM149542;OCCURENCE=1(stomach) 0.196 NA 5.6886646 1091 1 158647495 158647495 A T exonic SPTA1 NA synonymous SNV SPTA1:NM_003126:exon7:c.T942A:p.A314A exonic ENSG00000163554 NA synonymous SNV ENSG00000163554:ENST00000368147:exon7:c.T942A:p.A314A,ENSG00000163554:ENST00000368148:exon7:c.T942A:p.A314A Score=457;Name=lod=96 NA 1q23.1 Score=862;Name=V$PAX2_01 Name=Pol2 NA NA rs325996 0.96 0.96 0.95 0.956869 0.996 1 0.9914 0.8442 1 1 1 0.99 0.84 0.985 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.591864 1.591864 NA 0.997113 0.875635 NA 0.971 NA 5.6885536 1091 1 208390086 208390086 G C exonic PLXNA2 NA synonymous SNV PLXNA2:NM_025179:exon2:c.C1182G:p.T394T exonic ENSG00000076356 NA synonymous SNV ENSG00000076356:ENST00000367033:exon2:c.C1182G:p.T394T Score=505;Name=lod=150 NA 1q32.2 NA NA NA NA rs1664227 0.36 0.36 0.344 0.367212 0.3042 0.4048 0.3343 0.3623 0.4233 0.3 0.46 0.35 0.35 0.3476 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.713293 NA NA 0.326744 0.35202 NA 0.326 NA 5.6881226 1091 2 61304271 61304271 A G exonic KIAA1841 NA synonymous SNV KIAA1841:NM_001129993:exon6:c.A648G:p.K216K,KIAA1841:NM_032506:exon6:c.A648G:p.K216K exonic ENSG00000162929 NA synonymous SNV ENSG00000162929:ENST00000453873:exon4:c.A648G:p.K216K,ENSG00000162929:ENST00000295031:exon6:c.A648G:p.K216K,ENSG00000162929:ENST00000356719:exon6:c.A648G:p.K216K,ENSG00000162929:ENST00000402291:exon6:c.A648G:p.K216K Score=759;Name=lod=1622 NA 2p15 NA NA NA NA rs1729659 0.38 0.38 0.371 0.345847 0.3191 0.4167 0.4294 0.3911 0.18 0.31 0.41 0.42 0.4 0.3265 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.988835 NA NA 0.333488 0.379709 ID=COSM148865;OCCURENCE=1(stomach) 0.377 NA 5.6875786 1091 11 20112417 20112417 A C exonic NAV2 NA synonymous SNV NAV2:NM_001111019:exon17:c.A2697C:p.S899S,NAV2:NM_001111018:exon27:c.A5313C:p.S1771S,NAV2:NM_145117:exon27:c.A5505C:p.S1835S,NAV2:NM_182964:exon27:c.A5514C:p.S1838S,NAV2:NM_001244963:exon29:c.A5682C:p.S1894S exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000311043:exon16:c.A2697C:p.S899S,ENSG00000166833:ENST00000533917:exon17:c.A2697C:p.S899S,ENSG00000166833:ENST00000349880:exon27:c.A5505C:p.S1835S,ENSG00000166833:ENST00000360655:exon27:c.A5313C:p.S1771S,ENSG00000166833:ENST00000396085:exon28:c.A5514C:p.S1838S,ENSG00000166833:ENST00000396087:exon30:c.A5682C:p.S1894S,ENSG00000166833:ENST00000527559:exon31:c.A5469C:p.S1823S,ENSG00000166833:ENST00000540292:exon31:c.A5475C:p.S1825S NA NA 11p15.1 NA NA Name=15 NA rs2243624 0.45 0.45 0.44 0.406949 0.3101 0.6349 0.4467 0.4592 0.1728 0.33 0.61 0.43 0.48 0.3496 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493976 NA NA 0.319535 0.409669 NA 0.442 NA 5.6874316 1091 3 47018214 47018214 T C exonic CCDC12 NA synonymous SNV CCDC12:NM_001277074:exon1:c.A9G:p.A3A,CCDC12:NM_144716:exon2:c.A48G:p.A16A exonic ENSG00000160799 NA synonymous SNV ENSG00000160799:ENST00000292314:exon1:c.A48G:p.A16A,ENSG00000160799:ENST00000546280:exon1:c.A9G:p.A3A,ENSG00000160799:ENST00000446836:exon2:c.A48G:p.A16A,ENSG00000160799:ENST00000605875:exon2:c.A48G:p.A16A,ENSG00000160799:ENST00000425441:exon3:c.A48G:p.A16A NA NA 3p21.31 Score=721;Name=V$HOX13_01 Name=ELF1_(SC-631),HEY1,SP2_(SC-643),Pol2-4H8,NFKB,Znf143_(16618-1-AP),TAF1,POU2F2,TAF7_(SQ-8),Ini1,Pol2(phosphoS2),Pol2,NF-YB,YY1,TBP,Pol2(b),NRSF,eGFP-JunD,Sin3Ak-20,IRF1,SP1,Oct-2,c-Myc,YY1_(C-20) Name=148 NA rs936181 0.95 0.95 0.944 0.940296 0.998 1 0.9755 0.7882 1 1 1 0.98 0.81 0.9832 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.459489 NA NA 0.998372 0.811394 NA 0.935 NA 5.6870946 1091 14 104465037 104465037 T C exonic TDRD9 NA synonymous SNV TDRD9:NM_153046:exon13:c.T1455C:p.A485A exonic ENSG00000156414 NA synonymous SNV ENSG00000156414:ENST00000339063:exon13:c.T1455C:p.A485A,ENSG00000156414:ENST00000409874:exon13:c.T1455C:p.A485A Score=516;Name=lod=167 NA 14q32.33 NA NA NA NA rs10133836 0.94 0.94 0.933 0.941693 0.999 1 0.9841 0.7882 1 1 1 0.99 0.76 0.9822 1 . . . . . . . . 0.000 P . . . . -1.029 T 0.000 T . 1.274 10.16 -2.23 -0.522 -0.387 2.947 1.274484 1.274484 NA 0.998372 0.814117 NA 0.884 NA 5.6870946 1091 11 130776613 130776613 A G exonic SNX19 NA synonymous SNV SNX19:NM_014758:exon6:c.T2169C:p.S723S exonic ENSG00000120451 NA synonymous SNV ENSG00000120451:ENST00000265909:exon6:c.T2169C:p.S723S,ENSG00000120451:ENST00000528555:exon6:c.T309C:p.S103S,ENSG00000120451:ENST00000533214:exon6:c.T2169C:p.S723S,ENSG00000120451:ENST00000530356:exon7:c.T309C:p.S103S,ENSG00000120451:ENST00000539184:exon7:c.T498C:p.S166S Score=533;Name=lod=196 NA 11q24.3 NA NA Name=6 NA rs4373936 0.62 0.62 0.601 0.663139 0.6372 0.6468 0.6916 0.5537 0.8344 0.64 0.63 0.66 0.54 0.6795 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 1.293873 1.293873 NA 0.662904 0.569968 NA 0.58 NA 5.6870626 1091 12 57559809 57559809 G A intronic LRP1 NA NA NA intronic ENSG00000123384 NA NA NA NA NA 12q13.3 NA Name=c-Myc,AP-2alpha,AP-2gamma,JunD,Ini1 Name=38 NA rs1800174 0.4 0.4 0.399 0.385982 0.3131 0.4355 0.4438 0.5045 0.2086 0.32 0.4 0.41 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 -0.292619 NA NA NA NA NA 0.326 NA 5.6869 1091 13 95860214 95860214 C T intronic ABCC4 NA NA NA intronic ENSG00000125257 NA NA NA NA NA 13q32.1 NA Name=GATA-1,GATA-2,GATA2_(CG2-96),USF1_(SC-8983),USF-1,USF2,PAX5-C20,TAL1_(SC-12984) Name=15 NA rs2274409 0.11 0.11 0.09 0.107827 0.1044 0.1915 0.1412 0.0091 0.135 0.1 0.2 0.15 0.01 0.1107 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12568 NA NA 0.09814 0.024285 NA 0.101 NA 5.68676 1091 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 1091 17 40689455 40689455 T C exonic NAGLU NA synonymous SNV NAGLU:NM_000263:exon2:c.T423C:p.S141S exonic ENSG00000108784 NA synonymous SNV ENSG00000108784:ENST00000590358:exon1:c.T111C:p.S37S,ENSG00000108784:ENST00000225927:exon2:c.T423C:p.S141S Score=568;Name=lod=272 NA 17q21.2 NA Name=Pol2 NA NA rs659497 1 1 0.998 0.997604 0.993 1 0.9971 0.9985 0.999 0.99 1 1 1 0.9947 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.776764 1.776764 NA 0.992326 0.999546 NA 0.986 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078458.1;CLNDSDB=.;CLNDSDBID=. 5.6866406 1091 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 1091 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 1091 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 1091 22 26862212 26862212 T C exonic HPS4 NA nonsynonymous SNV HPS4:NM_152841:exon7:c.A671G:p.E224G,HPS4:NM_022081:exon9:c.A686G:p.E229G exonic ENSG00000100099 NA nonsynonymous SNV ENSG00000100099:ENST00000398141:exon7:c.A671G:p.E224G,ENSG00000100099:ENST00000402105:exon7:c.A671G:p.E224G,ENSG00000100099:ENST00000336873:exon9:c.A686G:p.E229G,ENSG00000100099:ENST00000398145:exon9:c.A686G:p.E229G,ENSG00000100099:ENST00000422379:exon9:c.A686G:p.E229G NA NA 22q12.1 NA NA NA NA rs713998 0.81 0.81 0.808 0.793131 0.9105 0.8026 0.7248 0.6694 0.8783 0.92 0.78 0.73 0.71 0.8487 0.92 0.51 T 0.0 B 0.0 B 0.486 N 1.000 P -1.445 N -2.19 D -0.958 T 0.000 T 0.338 -0.986 0.282 0.46 -0.212 0.158 0.800 -0.985713 NA 0.71 0.88814 0.688606 NA 0.804 NA 5.6859934 1091 14 92792255 92792255 G A exonic SLC24A4 NA synonymous SNV SLC24A4:NM_153646:exon2:c.G174A:p.T58T,SLC24A4:NM_153647:exon3:c.G174A:p.T58T exonic ENSG00000140090 NA synonymous SNV ENSG00000140090:ENST00000298877:exon2:c.G123A:p.T41T,ENSG00000140090:ENST00000351924:exon2:c.G123A:p.T41T,ENSG00000140090:ENST00000532405:exon2:c.G174A:p.T58T,ENSG00000140090:ENST00000531433:exon3:c.G174A:p.T58T NA NA 14q32.12 Score=951;Name=V$NMYC_01 Name=CTCF,CTCF_(SC-5916) Name=6 NA rs941646 0.95 0.95 0.931 0.935304 0.999 1 0.9755 0.7685 1 1 1 0.98 0.78 0.9828 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.748501 NA NA 0.99907 0.809351 NA 0.906 NA 5.6857966 1091 17 3564068 3564068 G A UTR3 CTNS NM_004937:c.*405G>A,NM_001031681:c.*40G>A NA NA UTR3 ENSG00000040531 ENST00000046640:c.*405G>A,ENST00000381870:c.*40G>A,ENST00000441220:c.*40G>A NA NA Score=333;Name=lod=30 NA 17p13.2 NA Name=Pol2 NA NA rs760273 0.21 0.21 0.148 0.197284 0.2326 0.2391 0.219 0.1127 0.2168 0.22 0.26 0.21 0.12 0.2117 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.147311 NA NA 0.203605 0.12778 NA 0.13 NA 5.6854284 1091 X 130420006 130420006 T C exonic IGSF1 NA synonymous SNV IGSF1:NM_001170962:exon3:c.A87G:p.P29P,IGSF1:NM_001170961:exon4:c.A114G:p.P38P,IGSF1:NM_001170963:exon4:c.A114G:p.P38P,IGSF1:NM_001555:exon4:c.A114G:p.P38P,IGSF1:NM_205833:exon4:c.A114G:p.P38P exonic ENSG00000147255 NA synonymous SNV ENSG00000147255:ENST00000370910:exon3:c.A87G:p.P29P,ENSG00000147255:ENST00000361420:exon4:c.A114G:p.P38P,ENSG00000147255:ENST00000370900:exon4:c.A114G:p.P38P,ENSG00000147255:ENST00000370901:exon4:c.A114G:p.P38P,ENSG00000147255:ENST00000370903:exon4:c.A114G:p.P38P,ENSG00000147255:ENST00000370904:exon10:c.A87G:p.P29P Score=457;Name=lod=96 NA Xq26.2 Score=812;Name=V$CDPCR3_01 NA NA NA rs5930458 0.96 0.96 0.95231 NA NA NA NA NA NA 1 1 0.98 0.85 0.9814 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317288 NA NA 0.999851 0.826076 NA 0.71 NA 5.6854156 1091 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 1091 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 1092 13 41705495 41705495 A G exonic KBTBD6 NA synonymous SNV KBTBD6:NM_152903:exon1:c.T1153C:p.L385L exonic ENSG00000165572 NA synonymous SNV ENSG00000165572:ENST00000379485:exon1:c.T1153C:p.L385L,ENSG00000165572:ENST00000499385:exon2:c.T955C:p.L319L Score=667;Name=lod=684 NA 13q14.11 NA Name=TAL1_(SC-12984) Name=2 NA rs584594 0.97 0.97 0.962 0.961861 0.999 0.9841 0.9928 0.8888 0.9775 1 0.98 0.99 0.9 0.985 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.301762 NA NA 0.997907 0.889469 NA 0.964 NA 5.6847596 1092 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 1092 14 88407875 88407875 T A exonic GALC NA synonymous SNV GALC:NM_001201401:exon14:c.A1629T:p.V543V,GALC:NM_000153:exon15:c.A1698T:p.V566V,GALC:NM_001201402:exon15:c.A1620T:p.V540V exonic ENSG00000054983 NA synonymous SNV ENSG00000054983:ENST00000555000:exon10:c.A1065T:p.V355V,ENSG00000054983:ENST00000393568:exon14:c.A1629T:p.V543V,ENSG00000054983:ENST00000261304:exon15:c.A1698T:p.V566V,ENSG00000054983:ENST00000393569:exon15:c.A1620T:p.V540V,ENSG00000054983:ENST00000544807:exon15:c.A1530T:p.V510V Score=487;Name=lod=127 NA 14q31.3 Score=812;Name=V$FREAC4_01 NA NA NA rs421466 0.94 0.94 0.937 0.940895 1 0.9306 0.9841 0.8434 0.9918 1 0.94 0.99 0.81 0.9828 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847596 NA NA 0.999388 0.873301 NA 0.942 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078195.1;CLNDSDB=.;CLNDSDBID=. 5.6844786 1092 17 3564073 3564073 A G UTR3 CTNS NM_004937:c.*410A>G,NM_001031681:c.*45A>G NA NA UTR3 ENSG00000040531 ENST00000046640:c.*410A>G,ENST00000381870:c.*45A>G,ENST00000441220:c.*45A>G NA NA Score=333;Name=lod=30 NA 17p13.2 NA Name=Pol2 NA NA rs3826496 0.21 0.21 0.145 0.197684 0.2336 0.2401 0.219 0.1127 0.2168 0.22 0.26 0.21 0.12 0.2118 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218208 NA NA 0.203488 0.126872 NA 0.13 NA 5.6844454 1092 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$TST1_01 NA NA NA rs7590340 0.53 0.53 0.521 0.523562 0.6938 0.2222 0.6254 0.5567 0.5419 0.67 0.26 0.64 0.56 0.6049 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425715 NA NA 0.683953 0.581707 NA 0.667 NA 5.6840136 1092 17 43342141 43342141 G C exonic MAP3K14 NA unknown UNKNOWN ncRNA_exonic ENSG00000006062 NA NA NA Score=489;Name=lod=130 NA 17q21.31 Score=877;Name=V$SRF_Q6 Name=Pol2 NA NA rs1047833 0.74 0.74 0.743 0.718251 0.7087 0.7073 0.7651 0.7791 0.6237 0.73 0.73 0.75 0.78 0.7173 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 -0.205575 NA NA 0.723522 0.794104 NA 0.63 NA 5.6838113 1092 20 33872311 33872311 G C UTR5 EIF6 NM_181468:c.-21C>G NA NA UTR5 ENSG00000242372 ENST00000374436:c.-21C>G,ENST00000440766:c.-21C>G NA NA NA NA 20q11.22 NA Name=AP-2gamma,Ini1,E2F6_(H-50) Name=148 NA rs2275275 0.21 0.21 0.162 0.250399 0.2018 0.2242 0.1326 0.2874 0.3609 0.21 0.19 0.17 0.25 0.2402 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.870287 1.870287 NA 0.207529 0.262742 NA 0.225 NA 5.6838044 1092 1 86900332 86900332 T C exonic CLCA2 NA synonymous SNV CLCA2:NM_006536:exon6:c.T876C:p.N292N exonic ENSG00000137975 NA synonymous SNV ENSG00000137975:ENST00000370565:exon6:c.T876C:p.N292N NA NA 1p22.3 NA NA Name=4 NA rs17449526 0.25 0.25 0.219 0.234824 0.3449 0.1796 0.3228 0.1513 0.229 0.35 0.15 0.32 0.15 0.2978 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.962922 1.962922 NA 0.340233 0.170449 NA 0.268 NA 5.6837336 1092 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$CEBP_C NA NA NA rs415929 0.28 0.28 0.281 0.279952 0.3519 0.2421 0.2594 0.2088 0.3558 0.34 0.24 0.3 0.22 0.3113 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1701 NA NA 0.31986 0.218212 NA 0.355 NA 5.6836066 1092 10 79584178 79584178 G C exonic DLG5 NA synonymous SNV DLG5:NM_004747:exon14:c.C2346G:p.R782R exonic ENSG00000151208 NA synonymous SNV ENSG00000151208:ENST00000424842:exon3:c.C249G:p.R83R,ENSG00000151208:ENST00000372388:exon14:c.C2346G:p.R782R,ENSG00000151208:ENST00000372391:exon14:c.C2346G:p.R782R Score=649;Name=lod=580 NA 10q22.3 Score=937;Name=V$AP4_Q6 NA NA NA rs1248629 0.73 0.73 0.715 0.744209 0.6491 0.7282 0.7795 0.8737 0.6585 0.62 0.75 0.77 0.86 0.6812 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 1.361194 1.361194 NA 0.653256 0.83931 NA 0.775 NA 5.6831106 1092 5 54683977 54683977 T C intronic SKIV2L2 NA NA NA intronic ENSG00000039123 NA NA NA NA NA 5q11.2 NA Name=FOXA1_(C-20) Name=7 NA rs16884123 0.19 0.19 0.181 0.182508 0.0974 0.2857 0.0937 0.292 0.0787 0.11 0.27 0.1 0.27 0.1204 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.677226 NA NA 0.099093 0.229914 NA 0.174 NA 5.683107 1092 12 57590797 57590797 C T exonic LRP1 NA synonymous SNV LRP1:NM_002332:exon56:c.C8925T:p.D2975D exonic ENSG00000123384 NA synonymous SNV ENSG00000123384:ENST00000243077:exon56:c.C8925T:p.D2975D Score=503;Name=lod=148 NA 12q13.3 NA NA NA NA rs1800156 0.41 0.41 0.395 0.391174 0.3141 0.4425 0.4424 0.5182 0.2096 0.32 0.41 0.41 0.53 0.3576 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.29179 1.29179 NA 0.311977 0.489106 NA 0.319 NA 5.6829896 1092 11 122738718 122738718 T C intronic CRTAM NA NA NA intronic ENSG00000109943 NA NA NA Score=366;Name=lod=41 NA 11q24.1 Score=809;Name=V$IRF7_01 NA NA NA rs17126930 0.11 0.11 0.107 0.116214 0.1064 0.1716 0.062 0.0961 0.135 0.1 0.17 0.08 0.07 0.1082 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.491315 NA NA 0.102582 0.094005 NA 0.217 NA 5.682818 1092 10 114053546 114053546 C G exonic TECTB NA synonymous SNV TECTB:NM_058222:exon5:c.C534G:p.S178S exonic ENSG00000119913 NA synonymous SNV ENSG00000119913:ENST00000369422:exon5:c.C534G:p.S178S NA NA 10q25.2 Score=828;Name=V$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 1092 1 33832865 33832865 A G exonic PHC2 NA synonymous SNV PHC2:NM_198040:exon6:c.T828C:p.P276P exonic ENSG00000134686 NA synonymous SNV ENSG00000134686:ENST00000431992:exon5:c.T741C:p.P247P,ENSG00000134686:ENST00000257118:exon6:c.T828C:p.P276P,ENSG00000134686:ENST00000419414:exon7:c.T828C:p.P276P Score=549;Name=lod=228 NA 1p35.1 Score=817;Name=V$COMP1_01 NA NA NA rs6425816 0.71 0.71 0.714 0.728235 0.6322 0.7708 0.4856 0.8843 0.7444 0.64 0.75 0.54 0.87 0.685 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.372508 1.372508 NA 0.667093 0.852247 NA 0.833 NA 5.6823736 1092 4 155256177 155256177 A G exonic DCHS2 NA synonymous SNV DCHS2:NM_001142552:exon4:c.T2556C:p.G852G,DCHS2:NM_017639:exon8:c.T1059C:p.G353G exonic ENSG00000197410 NA synonymous SNV ENSG00000197410:ENST00000339452:exon4:c.T2556C:p.G852G,ENSG00000197410:ENST00000357232:exon8:c.T1059C:p.G353G Score=467;Name=lod=105 NA 4q31.3 NA NA NA NA rs6858157 0.35 0.35 0.348 0.348642 0.3101 0.3899 0.3242 0.3396 0.3753 0.32 0.4 0.33 0.34 0.3455 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.712002 NA NA 0.328721 0.331366 ID=COSM1131214,COSM149750;OCCURENCE=1(prostate),1(stomach) 0.275 NA 5.6823456 1092 19 18311199 18311199 A G exonic RAB3A NA synonymous SNV RAB3A:NM_002866:exon3:c.T285C:p.A95A exonic ENSG00000105649 NA synonymous SNV ENSG00000105649:ENST00000222256:exon3:c.T285C:p.A95A,ENSG00000105649:ENST00000481914:exon3:c.T285C:p.A95A Score=579;Name=lod=301 NA 19p13.11 NA NA NA NA rs1046565 0.21 0.21 0.183 0.161542 0.3658 0.0923 0.2363 0.0287 0.1493 0.39 0.09 0.25 0.04 0.2791 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128203 NA NA 0.339884 0.07626 ID=COSM148533;OCCURENCE=1(stomach),1(large_intestine) 0.138 NA 5.6818826 1092 9 130860866 130860866 T C exonic SLC25A25 NA synonymous SNV SLC25A25:NM_052901:exon1:c.T21C:p.Y7Y exonic ENSG00000148339 NA synonymous SNV ENSG00000148339:ENST00000373064:exon1:c.T21C:p.Y7Y,ENSG00000148339:ENST00000472769:exon1:c.T21C:p.Y7Y Score=527;Name=lod=185 NA 9q34.11 Score=895;Name=V$MSX1_01 Name=Sin3Ak-20,HSF1,E2F4,STAT3,Mxi1_(bHLH),Max,ZNF263,GTF2F1_(RAP-74),Pol2(b),TBP,CEBPB,Pol2,Pol2(phosphoS2),HA-E2F1,HEY1,TAF1,Pol2-4H8 NA NA rs947624 0.97 0.97 0.965 0.954273 1 1 0.9841 0.8351 1 1 1 0.99 0.87 0.9856 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.326026 1.326026 NA 0.999186 0.840672 NA 0.949 NA 5.6818806 1092 9 130864676 130864676 T C exonic SLC25A25 NA synonymous SNV SLC25A25:NM_001006641:exon4:c.T504C:p.I168I,SLC25A25:NM_001006642:exon4:c.T462C:p.I154I,SLC25A25:NM_052901:exon4:c.T402C:p.I134I,SLC25A25:NM_001265614:exon5:c.T498C:p.I166I exonic ENSG00000148339 NA synonymous SNV ENSG00000148339:ENST00000373064:exon4:c.T402C:p.I134I,ENSG00000148339:ENST00000373068:exon4:c.T504C:p.I168I,ENSG00000148339:ENST00000432073:exon4:c.T462C:p.I154I,ENSG00000148339:ENST00000433501:exon4:c.T93C:p.I31I,ENSG00000148339:ENST00000373066:exon5:c.T498C:p.I166I,ENSG00000148339:ENST00000373069:exon5:c.T540C:p.I180I Score=541;Name=lod=211 NA 9q34.11 Score=682;Name=V$PPARG_02 NA NA Score=62;Name=2484108_0_-_62 rs7859709 0.97 0.97 0.963 0.954273 1 1 0.9841 0.8351 1 1 1 0.99 0.87 0.9856 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.443533 1.443533 NA 0.999302 0.840445 NA 0.964 NA 5.6817646 1092 13 33590851 33590851 T C exonic KL NA synonymous SNV KL:NM_004795:exon1:c.T273C:p.D91D exonic ENSG00000133116 NA synonymous SNV ENSG00000133116:ENST00000380099:exon1:c.T273C:p.D91D Score=660;Name=lod=641 NA 13q13.1 Score=755;Name=V$PPARG_02 NA Name=17 NA rs2772364 0.95 0.95 0.963 0.944089 0.999 1 0.9827 0.798 1 1 1 0.98 0.81 0.9865 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.893915 NA NA 0.999518 0.844614 NA 0.464 NA 5.6816486 1092 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 1092 1 107979396 107979396 A C exonic NTNG1 NA synonymous SNV NTNG1:NM_001113226:exon7:c.A1365C:p.G455G exonic ENSG00000162631 NA synonymous SNV ENSG00000162631:ENST00000370061:exon7:c.A1263C:p.G421G,ENSG00000162631:ENST00000370068:exon7:c.A1365C:p.G455G,ENSG00000162631:ENST00000370073:exon7:c.A1365C:p.G455G,ENSG00000162631:ENST00000542803:exon8:c.A1365C:p.G455G Score=664;Name=lod=666 NA 1p13.3 Score=901;Name=V$NFKAPPAB65_01 NA Name=4 NA rs480392 0.96 0.96 0.944 0.95028 1 1 0.987 0.8185 1 1 1 0.99 0.82 0.9858 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.748517 NA NA 0.999442 0.85236 NA 0.899 NA 5.6814246 1092 1 186277989 186277989 A G exonic PRG4 NA synonymous SNV PRG4:NM_001127710:exon4:c.A2736G:p.P912P,PRG4:NM_001127709:exon5:c.A2859G:p.P953P,PRG4:NM_001127708:exon6:c.A3015G:p.P1005P,PRG4:NM_005807:exon7:c.A3138G:p.P1046P exonic ENSG00000116690 NA synonymous SNV ENSG00000116690:ENST00000367485:exon5:c.A2859G:p.P953P,ENSG00000116690:ENST00000367483:exon6:c.A3015G:p.P1005P,ENSG00000116690:ENST00000367486:exon6:c.A3009G:p.P1003P,ENSG00000116690:ENST00000367484:exon7:c.A1725G:p.P575P,ENSG00000116690:ENST00000445192:exon7:c.A3138G:p.P1046P NA NA 1q31.1 NA NA Name=2 NA rs3737940 0.24 0.24 0.216 0.221246 0.33 0.125 0.402 0.1142 0.2249 0.35 0.13 0.39 0.1 0.3016 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324894 NA NA 0.353953 0.149342 NA 0.217 NA 5.6811136 1092 12 53722098 53722098 A G exonic SP7 NA synonymous SNV SP7:NM_152860:exon2:c.T1128C:p.H376H,SP7:NM_001173467:exon3:c.T1128C:p.H376H exonic ENSG00000170374 NA synonymous SNV ENSG00000170374:ENST00000303846:exon2:c.T1128C:p.H376H,ENSG00000170374:ENST00000537210:exon2:c.T1074C:p.H358H,ENSG00000170374:ENST00000536324:exon3:c.T1128C:p.H376H NA NA 12q13.13 Score=770;Name=V$PAX5_01 Name=CTCF Name=11 NA rs7138938 0.97 0.97 0.96 0.961262 1 0.999 0.9899 0.8593 1 1 1 0.99 0.86 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 -1.961825 NA NA 0.999289 0.857109 NA 0.949 NA 5.6807776 1092 20 60881780 60881780 T C exonic ADRM1 NA synonymous SNV ADRM1:NM_007002:exon5:c.T531C:p.L177L,ADRM1:NM_175573:exon5:c.T531C:p.L177L exonic ENSG00000130706 NA synonymous SNV ENSG00000130706:ENST00000253003:exon5:c.T531C:p.L177L Score=628;Name=lod=476 NA 20q13.33 NA Name=Pol2 Name=10 NA rs2427275 0.97 0.97 0.953 0.962859 0.998 0.9841 0.9899 0.879 0.999 1 0.98 0.99 0.88 0.9887 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.687126 1.687126 NA 0.999301 0.908303 NA 0.797 NA 5.6806656 1092 11 63885632 63885632 A G exonic FLRT1 NA synonymous SNV FLRT1:NM_013280:exon2:c.A1893G:p.E631E exonic ENSG00000126500 NA synonymous SNV ENSG00000126500:ENST00000246841:exon2:c.A1893G:p.E631E Score=634;Name=lod=504 NA 11q13.1 Score=822;Name=V$XBP1_01 NA Name=2 NA rs4379854 0.96 0.96 0.952 0.954273 1 1 0.9856 0.8343 1 1 1 0.99 0.85 0.9867 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166844 NA NA 0.999302 0.855066 NA 0.964 NA 5.6806646 1092 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 1092 14 69703158 69703158 A G exonic EXD2 NA synonymous SNV EXD2:NM_018199:exon6:c.A816G:p.L272L,EXD2:NM_001193361:exon7:c.A1191G:p.L397L,EXD2:NM_001193363:exon7:c.A1191G:p.L397L,EXD2:NM_001193360:exon8:c.A1191G:p.L397L,EXD2:NM_001193362:exon8:c.A1191G:p.L397L exonic ENSG00000081177 NA synonymous SNV ENSG00000081177:ENST00000409675:exon6:c.A816G:p.L272L,ENSG00000081177:ENST00000449989:exon6:c.A816G:p.L272L,ENSG00000081177:ENST00000312994:exon7:c.A1191G:p.L397L,ENSG00000081177:ENST00000409018:exon7:c.A1191G:p.L397L,ENSG00000081177:ENST00000409242:exon7:c.A816G:p.L272L,ENSG00000081177:ENST00000409949:exon8:c.A816G:p.L272L,ENSG00000081177:ENST00000409014:exon9:c.A816G:p.L272L Score=540;Name=lod=209 NA 14q24.1 NA NA NA NA rs3211166 0.44 0.44 0.397 0.434305 0.2913 0.9067 0.5706 0.0605 0.5031 0.3 0.91 0.52 0.06 0.3864 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 0.801277 NA NA 0.308372 0.108488 NA 0.261 NA 5.6805946 1092 12 124856618 124856618 A G exonic NCOR2 NA synonymous SNV NCOR2:NM_001077261:exon21:c.T2703C:p.A901A,NCOR2:NM_001206654:exon21:c.T2703C:p.A901A,NCOR2:NM_006312:exon22:c.T2757C:p.A919A exonic ENSG00000196498 NA synonymous SNV ENSG00000196498:ENST00000397355:exon20:c.T2706C:p.A902A,ENSG00000196498:ENST00000404121:exon20:c.T1416C:p.A472A,ENSG00000196498:ENST00000404621:exon20:c.T2703C:p.A901A,ENSG00000196498:ENST00000405201:exon20:c.T2757C:p.A919A,ENSG00000196498:ENST00000429285:exon20:c.T2703C:p.A901A,ENSG00000196498:ENST00000356219:exon21:c.T2757C:p.A919A,ENSG00000196498:ENST00000458234:exon22:c.T2757C:p.A919A Score=542;Name=lod=213 NA 12q24.31 NA NA NA NA rs7961196 0.29 0.29 0.292 0.315096 0.34 0.0843 0.2709 0.4728 0.3456 0.35 0.06 0.26 0.5 0.3161 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.208337 NA NA 0.329986 0.424006 ID=COSM430660,COSM430659;OCCURENCE=1(breast) 0.449 NA 5.6805806 1092 11 133815981 133815981 C G exonic IGSF9B NA synonymous SNV IGSF9B:NM_001277285:exon2:c.G237C:p.P79P exonic ENSG00000080854 NA synonymous SNV ENSG00000080854:ENST00000533160:exon1:c.G207C:p.P69P,ENSG00000080854:ENST00000321016:exon2:c.G237C:p.P79P,ENSG00000080854:ENST00000526663:exon2:c.G378C:p.P126P,ENSG00000080854:ENST00000533871:exon2:c.G237C:p.P79P NA NA 11q25 Score=870;Name=V$NF1_Q6 NA NA NA rs10894768 0.37 0.37 0.366 0.354633 0.2992 0.5208 0.438 0.3011 0.2536 0.31 0.51 0.43 0.26 0.3897 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082452 NA NA 0.297252 0.272427 NA 0.37 NA 5.6805146 1092 3 153839866 153839866 G C exonic ARHGEF26 NA nonsynonymous SNV ARHGEF26:NM_001251962:exon2:c.G85C:p.V29L,ARHGEF26:NM_001251963:exon2:c.G85C:p.V29L,ARHGEF26:NM_015595:exon2:c.G85C:p.V29L exonic ENSG00000114790 NA nonsynonymous SNV ENSG00000114790:ENST00000356448:exon2:c.G85C:p.V29L,ENSG00000114790:ENST00000465093:exon2:c.G85C:p.V29L,ENSG00000114790:ENST00000465817:exon2:c.G85C:p.V29L,ENSG00000114790:ENST00000496710:exon2:c.G85C:p.V29L NA NA 3q25.2 NA NA Name=129 NA rs12493885 0.94 0.94 0.939 0.959265 0.8738 0.999 0.9424 0.9902 0.9765 0.86 1 0.94 0.99 0.9111 1 1 T 0.0 B 0.0 B 0.813 N 1.000 P -0.695 N 2.34 T -0.975 T 0.000 T 0.021 -0.722 0.901 1.98 0.080 -0.567 4.661 -0.722292 NA 1 0.868206 0.964908 NA 0.899 NA 5.6802274 1092 22 50705466 50705466 A G exonic MAPK11 NA synonymous SNV MAPK11:NM_002751:exon7:c.T507C:p.F169F exonic ENSG00000185386 NA synonymous SNV ENSG00000185386:ENST00000449719:exon6:c.T183C:p.F61F,ENSG00000185386:ENST00000330651:exon7:c.T507C:p.F169F,ENSG00000185386:ENST00000395764:exon7:c.T507C:p.F169F Score=486;Name=lod=126 NA 22q13.33 Score=844;Name=V$HNF4_01 Name=SETDB1 NA NA rs760748 0.97 0.97 1 0.999002 0.996 1 0.9986 1 1 0.97 0.98 0.98 0.95 0.9969 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046508 NA NA 0.994416 0.997274 NA 0.964 NA 5.6793506 1092 1 237801770 237801770 T C exonic RYR2 NA synonymous SNV RYR2:NM_001035:exon45:c.T6906C:p.L2302L exonic ENSG00000198626 NA synonymous SNV ENSG00000198626:ENST00000542537:exon44:c.T6858C:p.L2286L,ENSG00000198626:ENST00000366574:exon45:c.T6906C:p.L2302L,ENSG00000198626:ENST00000360064:exon46:c.T6900C:p.L2300L Score=634;Name=lod=504 NA 1q43 Score=818;Name=V$GFI1_01 NA NA NA rs707189 0.96 0.96 0.955 0.954872 1 1 0.987 0.8359 1 1 1 0.98 0.83 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 1.040207 NA NA 0.999391 0.870639 NA 0.986 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036783.1;CLNDSDB=.;CLNDSDBID=. 5.6788756 1092 11 56000403 56000403 C G exonic OR5T2 NA nonsynonymous SNV OR5T2:NM_001004746:exon1:c.G259C:p.V87L exonic ENSG00000181718 NA nonsynonymous SNV ENSG00000181718:ENST00000313264:exon1:c.G259C:p.V87L NA NA 11q12.1 NA NA NA NA rs10791893 0.9 0.9 0.896 0.90655 0.8787 1 0.915 0.795 0.9836 0.88 1 0.93 0.79 0.8999 1 1 T 0.0 B 0.0 B 0.014 N 1.000 P -1.385 N 4.08 T -1.032 T 0.000 T 0.031 -2.699 0 0.512 -0.262 -3.237 5.331 -2.698775 NA 1 0.876047 0.790777 NA 0.884 NA 5.6786864 1092 11 66107674 66107674 A G exonic BRMS1 NA synonymous SNV BRMS1:NM_001024957:exon7:c.T546C:p.D182D,BRMS1:NM_015399:exon7:c.T546C:p.D182D exonic ENSG00000174744 NA synonymous SNV ENSG00000174744:ENST00000359957:exon7:c.T546C:p.D182D,ENSG00000174744:ENST00000425825:exon7:c.T546C:p.D182D,ENSG00000174744:ENST00000530756:exon7:c.T546C:p.D182D Score=481;Name=lod=120 NA 11q13.2 Score=824;Name=V$SREBP1_02 NA NA NA rs1784035 0.98 0.98 0.971 0.966853 0.998 1 0.9827 0.885 1 1 1 0.99 0.91 0.9912 1 . . . . . . . . 0.000 P . . . . . . . . . -0.07 3.658 1.47 -0.241 0.064 8.797 -0.070122 NA NA 0.998836 0.909318 NA 0.957 NA 5.6786306 1092 2 68388823 68388823 A G exonic PNO1 NA synonymous SNV PNO1:NM_020143:exon3:c.A366G:p.K122K exonic ENSG00000115946 NA synonymous SNV ENSG00000115946:ENST00000263657:exon3:c.A366G:p.K122K Score=607;Name=lod=389 NA 2p14 NA NA NA NA rs1137930 0.33 0.33 0.287 0.339856 0.327 0.4881 0.353 0.0809 0.5409 0.34 0.49 0.37 0.09 0.3567 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.199782 NA NA 0.304419 0.127553 NA 0.225 NA 5.6785476 1092 12 52708565 52708565 A G exonic KRT83 NA synonymous SNV KRT83:NM_002282:exon9:c.T1332C:p.D444D exonic ENSG00000170523 NA synonymous SNV ENSG00000170523:ENST00000293670:exon9:c.T1332C:p.D444D Score=445;Name=lod=86 NA 12q13.13 Score=834;Name=V$SREBP1_02 NA NA NA rs2857670 0.7 0.7 0.718 0.711462 0.6441 0.6776 0.585 0.8714 0.6892 0.64 0.67 0.64 0.88 0.6855 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 -0.772671 NA NA 0.65863 0.86011 NA 0.623 NA 5.6784366 1092 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$COMP1_01 NA NA NA rs1058192 0.71 0.71 0.684 0.720248 0.67 0.6478 0.7738 0.8896 0.5798 0.64 0.64 0.76 0.88 0.6703 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.107324 NA NA 0.64814 0.842129 ID=COSM1128916;OCCURENCE=1(prostate) 0.812 NA 5.6782266 1092 10 11505175 11505175 A G exonic USP6NL NA synonymous SNV USP6NL:NM_001080491:exon14:c.T1803C:p.P601P,USP6NL:NM_014688:exon15:c.T1752C:p.P584P exonic ENSG00000148429 NA synonymous SNV ENSG00000148429:ENST00000277575:exon14:c.T1803C:p.P601P,ENSG00000148429:ENST00000379237:exon15:c.T1752C:p.P584P NA NA 10p14 NA Name=NRSF NA NA rs3740204 0.48 0.48 0.517 0.499401 0.3042 0.7351 0.2997 0.5772 0.4939 0.3 0.74 0.31 0.59 0.3697 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.26331 NA NA 0.314592 0.514081 NA 0.413 NA 5.6781746 1092 7 149513077 149513077 G C exonic SSPO NA synonymous SNV SSPO:NM_198455:exon77:c.G10980C:p.S3660S ncRNA_exonic ENSG00000197558 NA NA NA NA NA 7q36.1 Score=841;Name=V$EGR1_01 NA NA NA rs2240362 0.13 0.13 0.096 0.113419 0.1382 0.2381 0.1282 0.0151 0.0818 0.13 0.22 0.12 0.02 0.2146 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.423407 NA NA 0.13575 0.026042 NA 0.101 NA 5.6781166 1092 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 1092 17 18052867 18052867 T C exonic MYO15A NA synonymous SNV MYO15A:NM_016239:exon34:c.T7185C:p.F2395F exonic ENSG00000091536 NA synonymous SNV ENSG00000091536:ENST00000205890:exon35:c.T7185C:p.F2395F Score=545;Name=lod=218 NA 17p11.2 Score=780;Name=V$ER_Q6 NA NA NA rs2955379 0.99 0.99 0.996 0.989816 1 1 0.9265 1 1 1 1 0.93 1 0.9895 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.222985 NA NA 0.999522 0.999509 NA 0.957 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038982.1;CLNDSDB=.;CLNDSDBID=. 5.6776446 1092 8 9577940 9577940 T C exonic TNKS NA synonymous SNV TNKS:NM_003747:exon12:c.T1806C:p.G602G exonic ENSG00000173273 NA synonymous SNV ENSG00000173273:ENST00000310430:exon12:c.T1806C:p.G602G,ENSG00000173273:ENST00000518281:exon12:c.T1095C:p.G365G NA NA 8p23.1 Score=718;Name=V$HOX13_01 Name=NFKB,ZEB1_(SC-25388),MEF2A,TCF12,POU2F2,Pol2,Egr-1,PAX5-N19,PAX5-C20,YY1_(C-20),SRF,Oct-2 Name=15 NA rs6601360 0.98 0.98 0.976 0.975439 0.998 1 0.9914 0.913 1 1 1 1 0.91 0.9927 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.20775 NA NA 0.998372 0.937585 NA 0.949 NA 5.6775946 1092 18 72343008 72343008 T C exonic ZNF407 NA synonymous SNV ZNF407:NM_001146189:exon1:c.T33C:p.D11D,ZNF407:NM_001146190:exon1:c.T33C:p.D11D,ZNF407:NM_017757:exon1:c.T33C:p.D11D exonic ENSG00000215421 NA synonymous SNV ENSG00000215421:ENST00000299687:exon1:c.T33C:p.D11D,ENSG00000215421:ENST00000309902:exon1:c.T33C:p.D11D,ENSG00000215421:ENST00000577538:exon1:c.T33C:p.D11D,ENSG00000215421:ENST00000582337:exon2:c.T33C:p.D11D Score=313;Name=lod=25 NA 18q22.3 NA Name=MafK_(ab50322) NA NA rs7243081 0.99 0.99 1 0.99361 1 1 0.9539 1 1 1 1 0.96 1 0.9898 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.595011 NA NA 0.999391 0.997339 NA 1 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118938.2;CLNDSDB=.;CLNDSDBID=. 5.6774756 1092 16 31141880 31141880 A G exonic KAT8 NA synonymous SNV KAT8:NM_032188:exon9:c.A1110G:p.L370L,KAT8:NM_182958:exon9:c.A1110G:p.L370L exonic ENSG00000103510 NA synonymous SNV ENSG00000103510:ENST00000219797:exon9:c.A1110G:p.L370L,ENSG00000103510:ENST00000448516:exon9:c.A1110G:p.L370L,ENSG00000103510:ENST00000543774:exon10:c.A1110G:p.L370L Score=653;Name=lod=601 NA 16p11.2 Score=818;Name=V$PPARG_03 NA Name=6 NA rs1549294 0.97 0.97 0.954 0.96246 1 1 0.9942 0.8616 0.999 1 1 1 0.86 0.9896 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.157841 NA NA 0.999651 0.887802 NA 0.899 NA 5.6774156 1092 15 34528948 34528948 G A exonic SLC12A6 NA synonymous SNV SLC12A6:NM_001042497:exon21:c.C2958T:p.L986L,SLC12A6:NM_005135:exon22:c.C2850T:p.L950L,SLC12A6:NM_133647:exon22:c.C3003T:p.L1001L,SLC12A6:NM_001042494:exon23:c.C2826T:p.L942L,SLC12A6:NM_001042495:exon23:c.C2826T:p.L942L,SLC12A6:NM_001042496:exon23:c.C2976T:p.L992L exonic ENSG00000140199 NA synonymous SNV ENSG00000140199:ENST00000451844:exon20:c.C2439T:p.L813L,ENSG00000140199:ENST00000397707:exon21:c.C2958T:p.L986L,ENSG00000140199:ENST00000560164:exon21:c.C2439T:p.L813L,ENSG00000140199:ENST00000290209:exon22:c.C2850T:p.L950L,ENSG00000140199:ENST00000560611:exon22:c.C3003T:p.L1001L,ENSG00000140199:ENST00000354181:exon23:c.C3003T:p.L1001L,ENSG00000140199:ENST00000397702:exon23:c.C2826T:p.L942L,ENSG00000140199:ENST00000458406:exon23:c.C2826T:p.L942L,ENSG00000140199:ENST00000558589:exon23:c.C2976T:p.L992L,ENSG00000140199:ENST00000558667:exon23:c.C3003T:p.L1001L Score=566;Name=lod=266 NA 15q14 Score=839;Name=V$TAL1BETAE47_01 NA NA NA rs4577050 0.61 0.61 0.601 0.572085 0.66 0.6657 0.6643 0.382 0.5767 0.65 0.69 0.64 0.42 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 1.142953 NA NA 0.678339 0.434121 NA 0.754 NA 5.6773276 1092 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 1092 10 115422474 115422474 A G exonic NRAP NA synonymous SNV NRAP:NM_001261463:exon3:c.T219C:p.N73N,NRAP:NM_006175:exon3:c.T219C:p.N73N,NRAP:NM_198060:exon3:c.T219C:p.N73N exonic ENSG00000197893 NA synonymous SNV ENSG00000197893:ENST00000359988:exon3:c.T219C:p.N73N,ENSG00000197893:ENST00000360478:exon3:c.T219C:p.N73N,ENSG00000197893:ENST00000369358:exon3:c.T219C:p.N73N,ENSG00000197893:ENST00000369360:exon3:c.T219C:p.N73N Score=457;Name=lod=96 NA 10q25.3 NA NA NA NA rs3127122 0.31 0.31 0.282 0.289137 0.3231 0.2143 0.4553 0.289 0.2137 0.33 0.21 0.42 0.32 0.3247 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.103667 NA NA 0.342326 0.301407 ID=COSM147050;OCCURENCE=1(stomach),1(prostate) 0.333 NA 5.6765406 1092 11 67814979 67814979 G C exonic TCIRG1 NA synonymous SNV TCIRG1:NM_006053:exon6:c.G597C:p.L199L,TCIRG1:NM_006019:exon11:c.G1245C:p.L415L exonic ENSG00000110719 NA synonymous SNV ENSG00000110719:ENST00000532635:exon6:c.G597C:p.L199L,ENSG00000110719:ENST00000265686:exon11:c.G1245C:p.L415L Score=624;Name=lod=458 NA 11q13.2 NA NA NA NA rs2471829 0.98 0.98 0.977 0.969848 0.998 1 0.9885 0.8933 1 1 1 0.99 0.91 0.9927 1 . . . . . . . . 0.000 P . . . . -1.010 T 0.000 T . 1.431 10.72 3.15 0.386 0.466 3.737 1.430711 1.430711 NA 0.999534 0.927045 NA 0.949 NA 5.6764326 1092 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 1092 1 33133968 33133968 T C exonic RBBP4 NA synonymous SNV RBBP4:NM_001135255:exon4:c.T450C:p.V150V,RBBP4:NM_001135256:exon4:c.T348C:p.V116V,RBBP4:NM_005610:exon4:c.T453C:p.V151V exonic ENSG00000162521 NA synonymous SNV ENSG00000162521:ENST00000373485:exon4:c.T453C:p.V151V,ENSG00000162521:ENST00000373493:exon4:c.T453C:p.V151V,ENSG00000162521:ENST00000414241:exon4:c.T450C:p.V150V,ENSG00000162521:ENST00000458695:exon4:c.T348C:p.V116V Score=708;Name=lod=1004 NA 1p35.1 Score=979;Name=V$FOXO1_01 NA NA NA rs2762904 0.98 0.98 0.979 0.967851 1 1 0.9841 0.8873 0.999 1 1 0.98 0.94 0.9913 1 . . . . . . . . 0.000 P . . . . -1.004 T 0.000 T . 1.318 10.32 1.77 0.108 -0.125 9.177 1.317807 1.317807 NA 0.999419 0.912165 NA 0.986 NA 5.6759476 1092 2 231338211 231338211 T G intronic SP100 NA NA NA intronic ENSG00000067066 NA NA NA NA NA 2q37.1 NA Name=PU.1,Pol2-4H8 Name=28 NA rs1678169 0.18 0.18 0.172 0.181909 0.3241 0.0675 0.1729 0.0696 0.3119 0.31 0.06 0.19 0.1 NA 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212936 NA NA NA NA NA 0.138 NA 5.6759 1092 3 122003045 122003045 G C exonic CASR NA synonymous SNV CASR:NM_000388:exon7:c.G2244C:p.P748P,CASR:NM_001178065:exon7:c.G2274C:p.P758P exonic ENSG00000036828 NA synonymous SNV ENSG00000036828:ENST00000296154:exon6:c.G2244C:p.P748P,ENSG00000036828:ENST00000490131:exon7:c.G2244C:p.P748P,ENSG00000036828:ENST00000498619:exon7:c.G2274C:p.P758P Score=358;Name=lod=38 NA 3q21.1 Score=814;Name=V$RFX1_02 NA Name=2 NA rs2036400 0.97 0.97 0.975 0.972843 1 1 0.9971 0.8986 1 1 1 1 0.89 0.9916 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277321 NA NA 0.999418 0.91852 NA 0.971 NA 5.6756486 1092 3 48727112 48727112 G A exonic IP6K2 NA synonymous SNV IP6K2:NM_001005909:exon5:c.C639T:p.Y213Y,IP6K2:NM_016291:exon5:c.C639T:p.Y213Y exonic ENSG00000068745 NA synonymous SNV ENSG00000068745:ENST00000328631:exon5:c.C639T:p.Y213Y Score=610;Name=lod=402 NA 3p21.31 NA Name=Pol2-4H8 NA NA rs4858798 0.7 0.7 0.662 0.73722 0.6521 0.9484 0.745 0.4977 0.9254 0.65 0.93 0.75 0.49 0.705 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 0.856965 NA NA 0.634186 0.52315 NA 0.587 NA 5.6753806 1093 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$TCF11_01 NA Name=3 NA rs4567355 0.99 0.99 0.983 0.976637 0.999 1 0.9986 0.913 1 1 1 1 0.94 0.9929 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.824327 NA NA 0.999767 0.918293 NA 0.978 NA 5.6749996 1093 16 85838653 85838653 T C exonic COX4I1 NA synonymous SNV COX4I1:NM_001861:exon3:c.T184C:p.L62L exonic ENSG00000131143 NA synonymous SNV ENSG00000131143:ENST00000564903:exon2:c.T184C:p.L62L,ENSG00000131143:ENST00000253452:exon3:c.T184C:p.L62L,ENSG00000131143:ENST00000561569:exon3:c.T184C:p.L62L,ENSG00000131143:ENST00000562336:exon3:c.T184C:p.L62L,ENSG00000131143:ENST00000564544:exon3:c.T184C:p.L62L,ENSG00000131143:ENST00000566405:exon3:c.T70C:p.L24L,ENSG00000131143:ENST00000568794:exon3:c.T184C:p.L62L Score=525;Name=lod=181 NA 16q24.1 Score=785;Name=V$COMP1_01 Name=CTCF_(SC-5916) NA NA rs2599091 0.97 0.97 0.971 0.977037 1 1 0.9942 0.916 1 1 1 0.99 0.89 0.9921 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.095337 NA NA 0.999767 0.91879 NA 0.971 NA 5.6747996 1093 11 67559770 67559770 C A ncRNA_exonic FAM86C2P NA NA NA ncRNA_exonic ENSG00000160172,ENSG00000227620 NA NA NA Score=473;Name=lod=112 NA 11q13.2 NA Name=Rad21,CTCF,CTCF_(SC-5916) NA NA rs11227960 0.97 0.97 0.953 0.950879 0.992 0.999 0.9813 0.8457 0.9796 1 1 0.98 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 -0.900409 NA NA NA NA NA 0.913 NA 5.6746666 1093 15 65370353 65370353 T C exonic KBTBD13 NA synonymous SNV KBTBD13:NM_001101362:exon1:c.T1200C:p.G400G exonic ENSG00000234438 NA synonymous SNV ENSG00000234438:ENST00000432196:exon1:c.T1200C:p.G400G NA NA 15q22.31 NA Name=SMC3_(ab9263),Max,Rad21,CTCF_(C-20),CTCF_(SC-5916),GABP,E2F6_(H-50),CTCF Name=105 NA rs2919360 0.99 0.99 0.987 0.989417 0.999 1 0.9928 0.9644 1 1 1 0.99 0.97 0.9961 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11954 NA NA 0.99699 0.974879 NA 0.913 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117308.1;CLNDSDB=.;CLNDSDBID=. 5.6745766 1093 12 862989 862989 T C exonic WNK1 NA synonymous SNV WNK1:NM_001184985:exon1:c.T258C:p.C86C,WNK1:NM_014823:exon1:c.T258C:p.C86C,WNK1:NM_018979:exon1:c.T258C:p.C86C,WNK1:NM_213655:exon1:c.T258C:p.C86C exonic ENSG00000060237 NA synonymous SNV ENSG00000060237:ENST00000315939:exon1:c.T258C:p.C86C,ENSG00000060237:ENST00000447667:exon1:c.T258C:p.C86C,ENSG00000060237:ENST00000530271:exon1:c.T258C:p.C86C,ENSG00000060237:ENST00000535572:exon1:c.T258C:p.C86C,ENSG00000060237:ENST00000537687:exon1:c.T258C:p.C86C Score=577;Name=lod=296 NA 12p13.33 NA Name=CCNT2,ZNF263,TAF1 Name=61 NA rs3168640 0.98 0.98 0.967 0.975639 1 1 0.9914 0.9123 1 1 1 0.99 0.92 0.9924 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.658763 1.658763 NA 0.999884 0.918747 NA 0.891 NA 5.6743826 1093 10 27964470 27964470 G A exonic MKX NA synonymous SNV MKX:NM_001242702:exon6:c.C852T:p.N284N,MKX:NM_173576:exon6:c.C852T:p.N284N exonic ENSG00000150051 NA synonymous SNV ENSG00000150051:ENST00000375790:exon6:c.C852T:p.N284N,ENSG00000150051:ENST00000419761:exon6:c.C852T:p.N284N Score=541;Name=lod=210 NA 10p12.1 NA NA NA NA rs2253230 0.27 0.27 0.25 0.285144 0.338 0.121 0.353 0.295 0.3384 0.36 0.09 0.36 0.29 0.3226 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.741451 NA NA 0.331744 0.312982 NA 0.377 NA 5.6743226 1093 2 220113242 220113242 T G exonic STK16 NA synonymous SNV STK16:NM_001008910:exon8:c.T879G:p.L293L exonic ENSG00000115661 NA synonymous SNV ENSG00000115661:ENST00000409516:exon6:c.T525G:p.L175L,ENSG00000115661:ENST00000409743:exon6:c.T783G:p.L261L,ENSG00000115661:ENST00000409260:exon7:c.T1014G:p.L338L,ENSG00000115661:ENST00000396738:exon8:c.T879G:p.L293L,ENSG00000115661:ENST00000409638:exon8:c.T879G:p.L293L Score=361;Name=lod=39 NA 2q35 NA Name=CTCF_(SC-5916),CTCF Name=11 NA rs7601549 0.96 0.96 0.971 0.971246 1 1 0.9942 0.8941 1 0.99 0.98 0.98 0.86 0.9926 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.618142 NA NA 0.999761 0.926036 NA 0.986 NA 5.6743056 1093 4 6619165 6619165 A G exonic MAN2B2 NA synonymous SNV MAN2B2:NM_015274:exon17:c.A2760G:p.L920L exonic ENSG00000013288 NA synonymous SNV ENSG00000013288:ENST00000285599:exon17:c.A2760G:p.L920L,ENSG00000013288:ENST00000504248:exon17:c.A2607G:p.L869L Score=458;Name=lod=97 NA 4p16.1 NA NA NA NA rs4689489 0.99 0.99 0.989 0.980032 1 1 0.9914 0.9402 0.9847 1 1 0.99 0.96 0.9924 1 . . . . . . . . 0.000 P . . . . -1.004 T 0.000 T . 0.369 6.006 1.71 0.145 1.053 9.199 0.369436 NA NA 1 0.951657 NA 0.978 NA 5.6742666 1093 12 53681683 53681683 A G intronic ESPL1 NA NA NA intronic ENSG00000135476 NA NA NA NA NA 12q13.13 NA Name=Znf143_(16618-1-AP),CTCF_(C-20),CTCF_(SC-5916),CTCF,SMC3_(ab9263),YY1_(C-20),Rad21 Name=135 NA rs1379610 0.17 0.17 0.133 0.11222 0.326 0.001 0.2089 0.0166 0.0675 0.35 NA 0.23 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 0.596463 NA NA NA NA NA 0.239 NA 5.674 1093 17 47210506 47210506 C A exonic B4GALNT2 NA nonsynonymous SNV B4GALNT2:NM_153446:exon1:c.C119A:p.A40D exonic ENSG00000167080 NA nonsynonymous SNV ENSG00000167080:ENST00000300404:exon1:c.C119A:p.A40D NA NA 17q21.32 NA NA NA NA rs7207403 0.43 0.43 0.453 0.43111 0.5348 0.129 0.4914 0.5242 0.4673 0.54 0.13 0.55 0.54 0.5588 0.57 0.61 T 0.0 B 0.0 B 0.042 N 1.000 P 0 N 2.05 T -0.919 T 0.000 T 0.05 1.401 10.62 -1.38 -0.291 0.254 0.870 1.400523 1.400523 NA 0.566286 0.535552 NA 0.464 NA 5.6734474 1093 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$E47_02 NA NA NA rs7021384 0.38 0.38 0.384 0.377995 0.3211 0.4722 0.451 0.3336 0.3476 0.32 0.47 0.41 0.36 0.3546 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05226 NA NA 0.317791 0.349977 NA 0.377 NA 5.6731756 1093 15 64915106 64915106 C T exonic ZNF609 NA synonymous SNV ZNF609:NM_015042:exon2:c.C828T:p.P276P exonic ENSG00000180357 NA synonymous SNV ENSG00000180357:ENST00000326648:exon2:c.C828T:p.P276P Score=708;Name=lod=1003 NA 15q22.31 Score=785;Name=V$HTF_01 Name=PAX5-N19,PAX5-C20,Max,Oct-2,SP1,IRF4_(M-17),NFKB,Pol2-4H8,TCF12,POU2F2 NA NA rs525878 0.98 0.98 0.975 0.980032 1 1 0.9971 0.9266 0.999 1 1 1 0.92 0.9943 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.101272 NA NA 0.999535 0.944621 NA 0.978 NA 5.6728316 1093 8 133906210 133906210 G A intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA Name=Egr-1,E2F6_(H-50) Name=94 NA rs72727406 0.05 0.05 0.039 0.0583067 0.1123 0.002 0.183 0.0045 0.045 0.1 NA 0.12 0.01 0.1121 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 -0.028863 NA NA 0.102791 0.025193 NA NA NA 5.672809 1093 8 2910020 2910020 A G exonic CSMD1 NA synonymous SNV CSMD1:NM_033225:exon50:c.T7624C:p.L2542L exonic ENSG00000183117 NA synonymous SNV ENSG00000183117:ENST00000537824:exon50:c.T7624C:p.L2542L,ENSG00000183117:ENST00000542608:exon50:c.T7624C:p.L2542L,ENSG00000183117:ENST00000400186:exon51:c.T7627C:p.L2543L,ENSG00000183117:ENST00000520002:exon51:c.T7627C:p.L2543L,ENSG00000183117:ENST00000602557:exon51:c.T7627C:p.L2543L,ENSG00000183117:ENST00000602723:exon51:c.T7627C:p.L2543L NA NA 8p23.2 NA NA NA NA rs6558703 0.98 0.98 0.984 0.982628 1 1 0.9914 0.9387 1 1 1 0.99 0.93 0.994 1 . . . . . . . . 1.000 P . . . . -1.020 T 0.000 T . -0.779 0.733 -2.49 -1.012 -0.048 7.600 -0.779264 NA NA 1 0.949148 NA 0.986 NA 5.6726666 1093 6 74079024 74079024 A G exonic OOEP NA nonsynonymous SNV OOEP:NM_001080507:exon2:c.T275C:p.V92A exonic ENSG00000203907 NA nonsynonymous SNV ENSG00000203907:ENST00000370359:exon2:c.T275C:p.V92A,ENSG00000203907:ENST00000441145:exon2:c.T110C:p.V37A,ENSG00000203907:ENST00000370363:exon3:c.T110C:p.V37A NA NA 6q13 NA NA NA NA rs496530 0.51 0.51 0.483 0.511382 0.5835 0.5933 0.5014 0.3109 0.6309 0.6 0.59 0.49 0.32 0.5318 0.6 1 T 0.154 B 0.032 B 0.860 N 1.000 P 0.205 N 2.75 T -0.948 T 0.004 T 0.041 0.239 5.289 1.38 0.307 -0.062 4.474 0.238792 NA 0.62 0.545411 0.367243 NA 0.652 NA 5.6726224 1093 8 133906211 133906211 C A intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA Name=E2F6_(H-50),Egr-1 Name=94 NA rs72727407 0.05 0.05 0.039 0.0583067 0.1123 0.002 0.183 0.0045 0.045 0.1 NA 0.12 0.01 0.1121 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 0.225472 NA NA 0.103256 0.02542 NA NA NA 5.672344 1093 15 75185670 75185670 A G intronic MPI NA NA NA exonic ENSG00000178802 NA nonsynonymous SNV ENSG00000178802:ENST00000565576:exon5:c.A679G:p.S227G NA NA 15q24.1 NA Name=Pol2(phosphoS2) NA NA rs7495739 0.41 0.41 0.366 0.338259 0.5109 0.2292 0.5778 0.289 0.1697 0.51 0.26 0.56 0.32 0.4375 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.670655 1.670655 NA 0.545984 0.324989 NA 0.486 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080014.1;CLNDSDB=.;CLNDSDBID=. 5.6722827 1093 8 29927300 29927300 C G exonic TMEM66 NA synonymous SNV TMEM66:NM_016127:exon3:c.G558C:p.A186A exonic ENSG00000133872 NA synonymous SNV ENSG00000133872:ENST00000523127:exon1:c.G252C:p.A84A,ENSG00000133872:ENST00000536273:exon2:c.G42C:p.A14A,ENSG00000133872:ENST00000256255:exon3:c.G558C:p.A186A,ENSG00000133872:ENST00000522794:exon3:c.G450C:p.A150A,ENSG00000133872:ENST00000545648:exon4:c.G42C:p.A14A Score=325;Name=lod=28 NA 8p12 NA NA NA NA rs6468093 0.99 0.99 0.986 0.978235 1 1 0.9928 0.9213 1 1 1 0.99 0.95 0.9944 1 . . . . . . . . 0.000 P . . . . -1.000 T 0.000 T . -0.021 3.905 3.94 0.365 0.647 2.873 -0.021187 NA NA 1 0.950522 NA 0.986 NA 5.6722666 1093 10 7679393 7679393 C T exonic ITIH5 NA synonymous SNV ITIH5:NM_001001851:exon5:c.G450A:p.K150K,ITIH5:NM_030569:exon5:c.G450A:p.K150K exonic ENSG00000123243 NA synonymous SNV ENSG00000123243:ENST00000256861:exon5:c.G450A:p.K150K,ENSG00000123243:ENST00000397145:exon5:c.G450A:p.K150K,ENSG00000123243:ENST00000397146:exon5:c.G450A:p.K150K Score=432;Name=lod=76 NA 10p14 NA NA NA NA rs6602256 0.4 0.4 0.426 0.448882 0.3121 0.4623 0.2233 0.6089 0.5194 0.31 0.49 0.22 0.59 0.3695 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049102 NA NA 0.313256 0.565365 NA 0.391 NA 5.6718106 1093 10 69948844 69948844 T C exonic MYPN NA synonymous SNV MYPN:NM_032578:exon13:c.T2886C:p.V962V,MYPN:NM_001256267:exon14:c.T2886C:p.V962V,MYPN:NM_001256268:exon17:c.T2004C:p.V668V exonic ENSG00000138347 NA synonymous SNV ENSG00000138347:ENST00000354393:exon13:c.T2061C:p.V687V,ENSG00000138347:ENST00000358913:exon13:c.T2886C:p.V962V,ENSG00000138347:ENST00000540630:exon13:c.T2886C:p.V962V Score=705;Name=lod=979 NA 10q21.3 Score=802;Name=V$ER_Q6 NA NA NA rs10733838 0.99 0.99 0.99 0.984625 1 1 0.9986 0.9425 1 1 1 1 0.95 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.441947 1.441947 NA 0.999419 0.958239 NA 0.978 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000024492.1;CLNDSDB=.;CLNDSDBID=. 5.6716476 1093 22 26884039 26884039 G A exonic SRRD NA nonsynonymous SNV SRRD:NM_001013694:exon3:c.G295A:p.A99T exonic ENSG00000100104 NA nonsynonymous SNV ENSG00000100104:ENST00000215917:exon3:c.G295A:p.A99T NA NA 22q12.1 NA NA NA NA rs4820682 0.82 0.82 0.805 0.808307 0.9095 0.8085 0.8372 0.6634 0.8793 0.92 0.78 0.84 0.71 0.8686 0.92 0.59 T 0.001 B 0.002 B 0.423 N 1.000 P 1.67 L 0.91 T -0.958 T 0.000 T 0.01 2.221 13.38 -2.14 -0.116 -0.017 0.995 2.220915 2.220915 0.44 0.883639 0.684082 NA 0.804 NA 5.6715944 1093 10 99155984 99155984 G A exonic RRP12 NA synonymous SNV RRP12:NM_001145114:exon3:c.C444T:p.F148F,RRP12:NM_015179:exon3:c.C444T:p.F148F exonic ENSG00000052749 NA synonymous SNV ENSG00000052749:ENST00000315563:exon3:c.C444T:p.F148F,ENSG00000052749:ENST00000370992:exon3:c.C444T:p.F148F,ENSG00000052749:ENST00000414986:exon3:c.C444T:p.F148F Score=459;Name=lod=98 NA 10q24.1 NA NA NA NA rs3814553 0.37 0.37 0.38 0.404153 0.337 0.3125 0.3429 0.5507 0.4131 0.33 0.28 0.33 0.58 0.3393 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.150151 NA NA 0.318837 0.493418 NA 0.304 NA 5.6715296 1093 12 57585144 57585144 C T exonic LRP1 NA synonymous SNV LRP1:NM_002332:exon44:c.C7278T:p.A2426A exonic ENSG00000123384 NA synonymous SNV ENSG00000123384:ENST00000243077:exon44:c.C7278T:p.A2426A NA NA 12q13.3 Score=744;Name=V$MYOGNF1_01 NA Name=37 NA rs1800139 0.54 0.54 0.529 0.536542 0.6849 0.494 0.5389 0.27 0.7863 0.68 0.55 0.57 0.31 0.6256 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.992672 NA NA 0.684651 0.338175 NA 0.623 NA 5.6715156 1093 7 114619598 114619598 C A exonic MDFIC NA synonymous SNV MDFIC:NM_001166345:exon4:c.C255A:p.A85A,MDFIC:NM_199072:exon4:c.C582A:p.A194A exonic ENSG00000135272 NA synonymous SNV ENSG00000135272:ENST00000427207:exon3:c.C213A:p.A71A,ENSG00000135272:ENST00000431629:exon3:c.C225A:p.A75A,ENSG00000135272:ENST00000498196:exon3:c.C90A:p.A30A,ENSG00000135272:ENST00000257724:exon4:c.C582A:p.A194A,ENSG00000135272:ENST00000393486:exon4:c.C255A:p.A85A NA NA 7q31.2 Score=712;Name=V$HOX13_01 Name=CEBPB,JunD,GTF2F1_(RAP-74),Rad21,p300_(N-15),STAT3,GATA3_(SC-268),c-Jun Name=84 NA rs2594449 0.99 0.99 0.982 0.985823 1 1 0.9957 0.9486 1 1 1 0.99 0.95 0.9955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304077 NA NA 0.999767 0.9537 NA 0.949 NA 5.6713996 1093 11 9406349 9406349 T C exonic IPO7 NA synonymous SNV IPO7:NM_006391:exon1:c.T39C:p.T13T exonic ENSG00000205339 NA synonymous SNV ENSG00000205339:ENST00000379719:exon1:c.T39C:p.T13T,ENSG00000205339:ENST00000533233:exon1:c.T39C:p.T13T Score=662;Name=lod=654 NA 11p15.4 Score=799;Name=V$PAX5_01 Name=HA-E2F1,Pol2,E2F6,Pol2-4H8,TAF1,HMGN3,NFKB,HEY1,c-Myc,NRSF,Sin3Ak-20,Pol2(b),TBP NA NA rs4606477 0.99 0.99 0.98 0.982228 1 1 0.9957 0.9349 1 1 1 1 0.94 0.9955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.049161 2.049161 NA 0.999883 0.949818 NA 0.971 NA 5.6712836 1093 10 64967445 64967445 A T exonic JMJD1C NA synonymous SNV JMJD1C:NM_004241:exon7:c.T3327A:p.R1109R,JMJD1C:NM_032776:exon10:c.T3984A:p.R1328R exonic ENSG00000171988 NA synonymous SNV ENSG00000171988:ENST00000402544:exon7:c.T3327A:p.R1109R,ENSG00000171988:ENST00000542921:exon9:c.T3438A:p.R1146R,ENSG00000171988:ENST00000399251:exon10:c.T3327A:p.R1109R,ENSG00000171988:ENST00000399262:exon10:c.T3984A:p.R1328R Score=567;Name=lod=270 NA 10q21.3 NA NA Name=3 NA rs1904294 0.99 0.99 0.981 0.986821 1 1 0.9986 0.9508 1 1 1 1 0.94 0.9954 1 . . . . . . . . 0.000 P . . . . -1.026 T 0.000 T . 0.297 5.609 0.898 -0.078 0.271 1.331 0.297093 NA NA 1 0.946068 NA 0.986 NA 5.6712666 1093 11 5344902 5344902 C G exonic OR51B2 NA nonsynonymous SNV OR51B2:NM_033180:exon1:c.G626C:p.C209S exonic ENSG00000184881 NA nonsynonymous SNV ENSG00000184881:ENST00000328813:exon1:c.G626C:p.C209S NA NA 11p15.4 NA NA NA NA rs7937237 0.75 0.75 0.743 0.755192 0.9076 0.5407 0.7651 0.7829 0.7751 0.9 0.53 0.79 0.77 0.8412 0.91 1 T 0.0 B 0.0 B 0.039 N 1.000 P -1.61 N 1.23 T -1.003 T 0.000 T 0.011 -2.888 0.001 -0.95 -0.330 -0.985 6.553 -2.887518 NA 1 0.913312 0.806679 NA 0.783 NA 5.6712214 1093 12 72307616 72307616 A G exonic TBC1D15 NA synonymous SNV TBC1D15:NM_001146213:exon12:c.A1311G:p.Q437Q,TBC1D15:NM_001146214:exon13:c.A1335G:p.Q445Q,TBC1D15:NM_022771:exon13:c.A1362G:p.Q454Q exonic ENSG00000121749 NA synonymous SNV ENSG00000121749:ENST00000393309:exon11:c.A624G:p.Q208Q,ENSG00000121749:ENST00000485960:exon12:c.A1311G:p.Q437Q,ENSG00000121749:ENST00000319106:exon13:c.A1335G:p.Q445Q,ENSG00000121749:ENST00000550746:exon13:c.A1362G:p.Q454Q Score=517;Name=lod=169 NA 12q21.1 NA NA NA NA rs3759171 0.62 0.62 0.63 0.665735 0.2674 0.8819 0.5634 0.9349 0.5613 0.26 0.89 0.52 0.92 0.4531 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 -0.527998 NA NA 0.275 0.851793 NA 0.514 NA 5.6711666 1093 12 89743223 89743223 G A exonic DUSP6 NA synonymous SNV DUSP6:NM_022652:exon2:c.C516T:p.D172D,DUSP6:NM_001946:exon3:c.C954T:p.D318D exonic ENSG00000139318 NA synonymous SNV ENSG00000139318:ENST00000308385:exon2:c.C516T:p.D172D,ENSG00000139318:ENST00000547291:exon2:c.C579T:p.D193D,ENSG00000139318:ENST00000279488:exon3:c.C954T:p.D318D Score=654;Name=lod=608 NA 12q21.33 NA Name=USF-1,USF1_(SC-8983) Name=46 NA rs704075 0.99 0.99 0.986 0.985024 0.999 1 0.9928 0.9478 1 1 1 0.99 0.95 0.9965 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.293996 NA NA 1 0.965048 NA 0.978 NA 5.6711666 1093 9 131235321 131235321 A G splicing ODF2 NM_153436:exon6:c.710+1A>G,NM_002540:exon9:c.638+1A>G,NM_001242354:exon6:c.467+1A>G,NM_001242353:exon7:c.710+1A>G,NM_153439:exon6:c.785+1A>G,NM_153432:exon6:c.842+1A>G,NM_153435:exon7:c.902+1A>G,NM_001242352:exon7:c.695+1A>G,NM_153433:exon7:c.710+1A>G,NM_153440:exon6:c.653+1A>G,NM_153437:exon7:c.653+1A>G NA NA exonic ENSG00000136811 NA nonsynonymous SNV ENSG00000136811:ENST00000535026:exon5:c.A364G:p.R122G NA NA 9q34.11 NA NA NA NA rs4512487 0.99 0.99 0.988 0.989617 1 1 0.9986 0.9614 1 1 1 1 0.96 0.9961 1 1 T . . . . . . 0.000 P . . . . -0.984 T 0.000 T . 0.873 8.54 -10.1 -2.821 -2.300 3.912 0.873005 NA NA 0.999535 0.959147 NA 1 NA 5.6710317 1093 4 8242466 8242466 A G exonic SH3TC1 NA synonymous SNV SH3TC1:NM_018986:exon18:c.A3795G:p.A1265A exonic ENSG00000125089 NA synonymous SNV ENSG00000125089:ENST00000245105:exon18:c.A3795G:p.A1265A,ENSG00000125089:ENST00000539824:exon18:c.A3567G:p.A1189A NA NA 4p16.1 Score=783;Name=V$MIF1_01 Name=Max,c-Myc Name=5 NA rs1281103 0.99 0.99 0.98 0.984225 1 1 0.9928 0.944 1 0.99 1 0.99 0.95 0.9958 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409566 NA NA 0.999884 0.962324 NA 0.942 NA 5.6709826 1093 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 1093 6 53516876 53516876 T G exonic KLHL31 NA synonymous SNV KLHL31:NM_001003760:exon3:c.A1425C:p.I475I exonic ENSG00000124743 NA synonymous SNV ENSG00000124743:ENST00000407079:exon2:c.A1425C:p.I475I,ENSG00000124743:ENST00000370905:exon3:c.A1425C:p.I475I Score=526;Name=lod=183 NA 6p12.1 NA Name=ZNF263,AP-2gamma,AP-2alpha,NRSF,TCF4,Max,Rad21,c-Myc,HEY1,E2F1,TAF1,RFX5_(N-494),CTCF_(C-20),CTCF_(SC-5916),HDAC2_(SC-6296),E2F6,CTCF,Pol2,Pol2(phosphoS2),HA-E2F1 Name=148 NA rs6928338 0.99 0.99 0.998 0.990415 0.999 1 0.9971 0.966 1 1 1 0.99 0.98 0.9971 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.276945 1.276945 NA 0.999882 0.963245 NA 1 NA 5.6706846 1093 3 128614185 128614185 A C exonic ACAD9 NA synonymous SNV ACAD9:NM_014049:exon4:c.A379C:p.R127R exonic ENSG00000177646 NA synonymous SNV ENSG00000177646:ENST00000308982:exon4:c.A379C:p.R127R,ENSG00000177646:ENST00000514336:exon4:c.A415C:p.R139R Score=265;Name=lod=16 NA 3q21.3 NA NA NA NA rs1680778 0.52 0.52 0.528 0.543331 0.2932 0.623 0.428 0.851 0.3845 0.28 0.62 0.45 0.83 0.4018 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 0.673136 NA NA 0.301047 0.741489 NA 0.565 NA 5.6706196 1093 17 78935197 78935197 C T exonic RPTOR NA synonymous SNV RPTOR:NM_001163034:exon27:c.C3135T:p.R1045R,RPTOR:NM_020761:exon31:c.C3609T:p.R1203R exonic ENSG00000141564 NA synonymous SNV ENSG00000141564:ENST00000544334:exon27:c.C3135T:p.R1045R,ENSG00000141564:ENST00000306801:exon31:c.C3609T:p.R1203R Score=451;Name=lod=91 NA 17q25.3 NA NA NA NA rs9899178 0.35 0.35 0.313 0.309505 0.3479 0.5546 0.3415 0.0862 0.2965 0.34 0.58 0.35 0.1 0.3298 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.40847 NA NA 0.318443 0.118409 NA 0.326 NA 5.6705236 1093 1 6209363 6209363 T C exonic CHD5 NA synonymous SNV CHD5:NM_015557:exon8:c.A1104G:p.V368V exonic ENSG00000116254 NA synonymous SNV ENSG00000116254:ENST00000262450:exon8:c.A1104G:p.V368V,ENSG00000116254:ENST00000496404:exon8:c.A1104G:p.V368V Score=500;Name=lod=144 NA 1p36.31 NA NA NA NA rs12565328 0.49 0.49 0.517 0.523762 0.3082 0.6538 0.2147 0.7216 0.5634 0.3 0.67 0.23 0.74 0.4012 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.05089 NA NA 0.286744 0.650477 NA 0.529 NA 5.6705226 1093 16 8738579 8738579 A G exonic METTL22 NA synonymous SNV METTL22:NM_024109:exon10:c.A1176G:p.Q392Q exonic ENSG00000067365 NA synonymous SNV ENSG00000067365:ENST00000562973:exon2:c.A264G:p.Q88Q,ENSG00000067365:ENST00000381920:exon10:c.A1176G:p.Q392Q,ENSG00000067365:ENST00000561758:exon11:c.A1008G:p.Q336Q Score=478;Name=lod=117 NA 16p13.2 NA Name=c-Myc,Max Name=8 NA rs1641067 0.99 0.99 0.993 0.985823 1 1 0.9928 0.9501 1 1 1 0.99 0.97 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 -0.212098 NA NA 1 0.959425 NA 0.986 NA 5.6702666 1093 14 65246623 65246623 T C exonic SPTB NA synonymous SNV SPTB:NM_000347:exon20:c.A4293G:p.R1431R,SPTB:NM_001024858:exon20:c.A4293G:p.R1431R exonic ENSG00000070182 NA synonymous SNV ENSG00000070182:ENST00000553938:exon2:c.A288G:p.R96R,ENSG00000070182:ENST00000389720:exon20:c.A4293G:p.R1431R,ENSG00000070182:ENST00000389721:exon20:c.A4293G:p.R1431R,ENSG00000070182:ENST00000389722:exon20:c.A4293G:p.R1431R,ENSG00000070182:ENST00000542895:exon21:c.A4293G:p.R1431R,ENSG00000070182:ENST00000556626:exon21:c.A4293G:p.R1431R Score=562;Name=lod=257 NA 14q23.3 NA NA NA NA rs1626923 0.4 0.4 0.416 0.445088 0.326 0.377 0.2176 0.7057 0.4468 0.32 0.36 0.24 0.67 0.3494 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 1.343628 1.343628 NA 0.321163 0.623468 NA 0.377 NA 5.6701036 1093 1 236882303 236882303 T C exonic ACTN2 NA synonymous SNV ACTN2:NM_001103:exon3:c.T351C:p.I117I exonic ENSG00000077522 NA synonymous SNV ENSG00000077522:ENST00000366578:exon3:c.T351C:p.I117I,ENSG00000077522:ENST00000542672:exon3:c.T351C:p.I117I Score=504;Name=lod=149 NA 1q43 NA Name=FOXA1_(C-20) NA NA rs1341864 0.99 0.99 0.994 0.992612 0.999 1 0.9957 0.975 1 1 1 0.99 0.97 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 0.868035 NA NA 0.999767 0.977531 NA 0.993 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036910.1;CLNDSDB=.;CLNDSDBID=. 5.6699996 1093 20 590543 590543 G C exonic TCF15 NA synonymous SNV TCF15:NM_004609:exon1:c.C339G:p.T113T exonic ENSG00000125878 NA synonymous SNV ENSG00000125878:ENST00000246080:exon1:c.C339G:p.T113T Score=784;Name=lod=2045 NA 20p13 Score=858;Name=V$HAND1E47_01 NA NA NA rs2665781 0.95 0.95 1 0.995407 0.997 0.9841 0.9971 0.9985 1 0.91 0.97 0.96 0.96 1 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 1.327569 1.327569 NA NA NA NA NA NA 5.6696666 1093 2 111907691 111907691 T C exonic BCL2L11 NA synonymous SNV BCL2L11:NM_001204106:exon3:c.T195C:p.I65I,BCL2L11:NM_001204107:exon3:c.T195C:p.I65I,BCL2L11:NM_001204108:exon3:c.T465C:p.I155I,BCL2L11:NM_001204110:exon3:c.T195C:p.I65I,BCL2L11:NM_138621:exon3:c.T465C:p.I155I,BCL2L11:NM_138622:exon3:c.T465C:p.I155I,BCL2L11:NM_207003:exon3:c.T195C:p.I65I,BCL2L11:NM_006538:exon4:c.T285C:p.I95I,BCL2L11:NM_138623:exon4:c.T285C:p.I95I exonic ENSG00000153094 NA synonymous SNV ENSG00000153094:ENST00000437029:exon2:c.T465C:p.I155I,ENSG00000153094:ENST00000439718:exon2:c.T195C:p.I65I,ENSG00000153094:ENST00000452231:exon2:c.T195C:p.I65I,ENSG00000153094:ENST00000357757:exon3:c.T465C:p.I155I,ENSG00000153094:ENST00000393253:exon3:c.T195C:p.I65I,ENSG00000153094:ENST00000393256:exon3:c.T465C:p.I155I,ENSG00000153094:ENST00000308659:exon4:c.T285C:p.I95I,ENSG00000153094:ENST00000433098:exon4:c.T285C:p.I95I Score=376;Name=lod=45 NA 2q13 NA Name=STAT1,GATA-2,GATA2_(CG2-96),eGFP-GATA2,c-Fos NA NA rs724710 0.73 0.73 0.736 0.692492 0.668 0.8502 0.5029 0.8011 0.5429 0.68 0.88 0.52 0.77 0.6562 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 1.452213 1.452213 NA 0.672907 0.787335 NA 0.754 NA 5.6695596 1093 5 176936650 176936650 T C exonic DOK3 NA synonymous SNV DOK3:NM_024872:exon2:c.A60G:p.L20L exonic ENSG00000146094 NA synonymous SNV ENSG00000146094:ENST00000357198:exon2:c.A60G:p.L20L Score=304;Name=lod=23 NA 5q35.3 NA Name=ZEB1_(SC-25388),ELF1_(SC-631),Pol2,E2F6_(H-50),TCF12,ZBTB7A_(SC-34508),PU.1 Name=28 NA rs28565502 0.99 0.99 0.992 0.993011 1 1 0.9986 0.9743 1 1 0.99 0.99 0.96 0.9974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302753 NA NA 0.999884 0.973672 NA 0.993 NA 5.6693826 1093 14 51239067 51239067 C G exonic NIN NA synonymous SNV NIN:NM_016350:exon9:c.G933C:p.L311L,NIN:NM_020921:exon9:c.G933C:p.L311L,NIN:NM_182944:exon9:c.G933C:p.L311L,NIN:NM_182946:exon9:c.G933C:p.L311L exonic ENSG00000100503 NA synonymous SNV ENSG00000100503:ENST00000530997:exon7:c.G933C:p.L311L,ENSG00000100503:ENST00000382043:exon8:c.G933C:p.L311L,ENSG00000100503:ENST00000245441:exon9:c.G933C:p.L311L,ENSG00000100503:ENST00000324330:exon9:c.G933C:p.L311L,ENSG00000100503:ENST00000382041:exon9:c.G933C:p.L311L,ENSG00000100503:ENST00000389868:exon9:c.G933C:p.L311L,ENSG00000100503:ENST00000453196:exon9:c.G933C:p.L311L,ENSG00000100503:ENST00000453401:exon9:c.G819C:p.L273L,ENSG00000100503:ENST00000476352:exon9:c.G933C:p.L311L Score=419;Name=lod=67 NA 14q22.1 Score=910;Name=V$USF_02 NA NA NA rs8020503 0.99 0.99 0.991 0.992412 1 1 0.9957 0.9735 1 1 1 1 0.97 0.9973 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.928497 NA NA 1 0.972537 NA 0.971 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117819.2;CLNDSDB=.;CLNDSDBID=. 5.6693666 1093 7 139801777 139801777 T G exonic JHDM1D NA synonymous SNV JHDM1D:NM_030647:exon12:c.A1612C:p.R538R exonic ENSG00000006459 NA synonymous SNV ENSG00000006459:ENST00000006967:exon12:c.A1612C:p.R538R,ENSG00000006459:ENST00000397560:exon12:c.A1612C:p.R538R Score=422;Name=lod=69 NA 7q34 NA NA NA NA rs1062277 0.31 0.31 0.325 0.333466 0.335 0.245 0.281 0.416 0.3487 0.31 0.24 0.29 0.39 0.3223 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.331133 1.331133 NA 0.340234 0.386133 NA 0.377 NA 5.6691326 1093 1 26527783 26527783 G A intronic CATSPER4 NA NA NA intronic ENSG00000188782 NA NA NA NA NA 1p36.11 NA Name=CTCFL_(SC-98982),HEY1,ELF1_(SC-631),NF-YB,CTCF_(SC-5916),eGFP-JunB,Pol2-4H8,ZBTB7A_(SC-34508),PU.1,HMGN3,c-Jun,Pol2(b),TAF1,CCNT2,Egr-1,E2F6,E2F6_(H-50),CTCF,HDAC2_(SC-6296),Rad21,CHD2_(N-1250),TAL1_(SC-12984),Max,Pol2 Name=91 NA rs6703730 0.22 0.22 0.182 0.169329 0.331 0.2123 0.2118 0.0287 0.1186 0.34 0.21 0.22 0.04 NA 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.202353 NA NA NA NA NA 0.196 NA 5.669 1093 2 208633413 208633413 T C exonic FZD5 NA synonymous SNV FZD5:NM_003468:exon2:c.A51G:p.L17L exonic ENSG00000163251 NA synonymous SNV ENSG00000163251:ENST00000295417:exon2:c.A51G:p.L17L Score=503;Name=lod=148 NA 2q33.3 Score=869;Name=V$TAL1ALPHAE47_01 NA Name=124 NA rs4675711 0.99 0.99 0.99 0.991414 1 1 0.9986 0.969 0.999 1 1 1 0.96 0.9977 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.961464 NA NA 1 0.974897 NA 0.659 NA 5.6689666 1093 17 60043884 60043884 G A exonic MED13 NA synonymous SNV MED13:NM_005121:exon19:c.C4320T:p.D1440D exonic ENSG00000108510 NA synonymous SNV ENSG00000108510:ENST00000397786:exon19:c.C4320T:p.D1440D Score=659;Name=lod=633 NA 17q23.2 Score=871;Name=V$SOX9_B1 Name=TAL1_(SC-12984),GATA-2,GATA-1 NA NA rs671347 1 1 0.997 0.996206 1 1 0.9986 0.9864 1 1 1 1 0.98 0.9983 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.869445 NA NA 1 0.978075 NA 1 NA 5.6683666 1093 7 142498897 142498897 A G intergenic PRSS3P2,EPHB6 dist=16498;dist=53895 NA NA exonic ENSG00000211772 NA unknown UNKNOWN NA NA 7q34 NA Name=E2F6_(H-50),USF-1,THAP1_(SC-98174),ZBTB7A_(SC-34508) 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 1093 5 79733079 79733079 T C exonic ZFYVE16 NA nonsynonymous SNV ZFYVE16:NM_014733:exon3:c.T575C:p.I192T,ZFYVE16:NM_001105251:exon4:c.T575C:p.I192T exonic ENSG00000039319 NA nonsynonymous SNV ENSG00000039319:ENST00000338008:exon3:c.T575C:p.I192T,ENSG00000039319:ENST00000505560:exon4:c.T575C:p.I192T,ENSG00000039319:ENST00000510158:exon4:c.T575C:p.I192T NA NA 5q14.1 NA NA NA NA rs2544600 0.8 0.8 0.786 0.760982 0.8946 0.9157 0.8761 0.4365 0.8211 0.89 0.93 0.88 0.43 0.8639 0.93 0.42 T 0.057 B 0.016 B 0.044 N 1.000 P 0.55 N 1.21 T -0.985 T 0.000 T 0.011 -1.85 0.009 -6.06 -0.946 -0.243 1.210 -1.849944 NA 0.32 0.906636 0.479499 NA 0.775 NA 5.6681974 1093 2 27440785 27440785 C T exonic CAD NA synonymous SNV CAD:NM_004341:exon2:c.C123T:p.T41T exonic ENSG00000084774 NA synonymous SNV ENSG00000084774:ENST00000264705:exon2:c.C123T:p.T41T,ENSG00000084774:ENST00000403525:exon2:c.C123T:p.T41T Score=610;Name=lod=403 NA 2p23.3 NA Name=TBP,TAF1,Pol2-4H8,CTCF,Pol2 Name=72 NA rs1275536 1 1 0.997 0.995807 1 1 0.9986 0.9849 1 1 1 1 0.99 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.709929 NA NA 0.999884 0.987744 NA 1 NA 5.6681826 1093 14 76957887 76957887 T C exonic ESRRB NA synonymous SNV ESRRB:NM_004452:exon8:c.T885C:p.Y295Y exonic ENSG00000119715 NA synonymous SNV ENSG00000119715:ENST00000261532:exon6:c.T885C:p.Y295Y,ENSG00000119715:ENST00000380887:exon6:c.T885C:p.Y295Y,ENSG00000119715:ENST00000512784:exon6:c.T900C:p.Y300Y,ENSG00000119715:ENST00000556177:exon6:c.T885C:p.Y295Y,ENSG00000119715:ENST00000509242:exon7:c.T885C:p.Y295Y,ENSG00000119715:ENST00000505752:exon8:c.T885C:p.Y295Y Score=610;Name=lod=402 NA 14q24.3 NA Name=ZNF263 NA NA rs2361293 0.96 0.96 0.995 0.992812 1 1 0.9986 0.9735 1 0.96 0.98 0.99 0.93 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.687848 NA NA 0.999884 0.989328 NA 0.949 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038141.1;CLNDSDB=.;CLNDSDBID=. 5.6681826 1093 8 38005835 38005835 T C exonic STAR NA synonymous SNV STAR:NM_000349:exon3:c.A189G:p.L63L exonic ENSG00000147465 NA synonymous SNV ENSG00000147465:ENST00000276449:exon3:c.A189G:p.L63L Score=532;Name=lod=193 NA 8p11.23 NA NA NA NA rs2229620 1 1 0.993 0.995407 1 1 1 0.9826 1 1 1 1 0.98 0.9986 1 . . . . . . . . 0.000 P . . . . . . . . . 1.285 10.2 2.71 0.100 . 3.008 1.284677 1.284677 NA 1 0.988879 NA 0.986 NA 5.6680666 1093 15 89169614 89169614 A G exonic AEN NA synonymous SNV AEN:NM_022767:exon2:c.A174G:p.E58E exonic ENSG00000181026 NA synonymous SNV ENSG00000181026:ENST00000332810:exon2:c.A174G:p.E58E,ENSG00000181026:ENST00000379231:exon2:c.A174G:p.E58E,ENSG00000181026:ENST00000559528:exon2:c.A174G:p.E58E NA NA 15q26.1 NA Name=Pol2 NA NA rs3743476 0.24 0.24 0.225 0.197883 0.3618 0.1538 0.2061 0.0825 0.2249 0.36 0.2 0.25 0.11 0.2862 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098158 NA NA 0.350628 0.107549 NA 0.312 NA 5.6680386 1093 4 73991006 73991006 T C exonic ANKRD17 NA synonymous SNV ANKRD17:NM_198889:exon16:c.A2505G:p.A835A,ANKRD17:NM_032217:exon17:c.A3258G:p.A1086A exonic ENSG00000132466 NA synonymous SNV ENSG00000132466:ENST00000561029:exon5:c.A1359G:p.A453A,ENSG00000132466:ENST00000330838:exon16:c.A2505G:p.A835A,ENSG00000132466:ENST00000358602:exon17:c.A3258G:p.A1086A,ENSG00000132466:ENST00000509867:exon17:c.A2919G:p.A973A NA NA 4q13.3 Score=801;Name=V$ARNT_02 NA NA NA rs6822576 1 1 0.997 0.997404 1 1 0.9971 0.9917 1 1 1 1 0.99 0.9988 1 . . . . . . . . 0.000 P . . . . . . . . . 0.501 6.719 -10.7 -3.498 -0.818 11.714 0.501365 NA NA 0.999884 0.989333 NA 1 NA 5.6679826 1093 6 151894505 151894505 T C exonic CCDC170 NA nonsynonymous SNV CCDC170:NM_025059:exon6:c.T971C:p.F324S exonic ENSG00000120262 NA nonsynonymous SNV ENSG00000120262:ENST00000239374:exon6:c.T971C:p.F324S,ENSG00000120262:ENST00000367290:exon6:c.T971C:p.F324S NA NA 6q25.1 NA NA NA NA rs953767 0.94 0.94 0.951 0.941693 0.8757 0.996 0.9352 0.9932 0.8885 0.87 1 0.92 0.99 0.9073 1 0.7 T 0.0 B 0.0 B 0.590 N 1.000 P -1.1 N 3.25 T -0.926 T 0.002 T 0.036 -1.022 0.229 2.45 0.769 -0.169 1.629 -1.022154 NA 0.79 0.88253 0.978632 NA 0.971 NA 5.6678034 1093 4 106474096 106474096 T C exonic ARHGEF38 NA synonymous SNV ARHGEF38:NM_001242729:exon1:c.T174C:p.T58T,ARHGEF38:NM_017700:exon1:c.T174C:p.T58T exonic ENSG00000236699 NA synonymous SNV ENSG00000236699:ENST00000265154:exon1:c.T174C:p.T58T,ENSG00000236699:ENST00000420470:exon1:c.T174C:p.T58T Score=505;Name=lod=150 NA 4q24 Score=844;Name=V$EVI1_04 NA NA NA rs6533206 1 1 1 0.9998 0.999 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 1.122642 NA NA NA NA NA 1 NA 5.6677666 1093 16 88717386 88717386 T C exonic CYBA NA synonymous SNV CYBA:NM_000101:exon1:c.A36G:p.E12E exonic ENSG00000051523 NA synonymous SNV ENSG00000051523:ENST00000261623:exon1:c.A36G:p.E12E,ENSG00000051523:ENST00000567174:exon1:c.A36G:p.E12E,ENSG00000051523:ENST00000568278:exon1:c.A36G:p.E12E,ENSG00000051523:ENST00000569359:exon1:c.A36G:p.E12E Score=593;Name=lod=343 NA 16q24.3 NA Name=ETS1,HEY1,Pol2-4H8,NFKB,TAF1,E2F6_(H-50),POU2F2,TAF7_(SQ-8),Pol2(phosphoS2),Pol2,YY1,TBP,NRSF,Sin3Ak-20,IRF1,c-Myc,Oct-2,YY1_(C-20) Name=99 NA rs8053867 1 1 1 0.995607 1 1 0.9971 0.9849 1 1 1 1 0.99 0.9991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.977541 1.977541 NA 1 0.991751 NA 0.652 NA 5.6675666 1093 9 130630639 130630639 A G exonic AK1 NA synonymous SNV AK1:NM_000476:exon6:c.T477C:p.P159P exonic ENSG00000106992 NA synonymous SNV ENSG00000106992:ENST00000223836:exon5:c.T525C:p.P175P,ENSG00000106992:ENST00000373156:exon6:c.T477C:p.P159P,ENSG00000106992:ENST00000373176:exon6:c.T477C:p.P159P NA NA 9q34.11 NA NA NA NA rs913986 1 1 0.997 0.998203 1 1 1 0.9932 1 1 1 1 0.99 0.9995 1 . . . . . . . . 0.000 P . . . . -1.032 T 0.000 T . 1.333 10.38 -10.7 -2.929 -4.950 2.190 1.333159 1.333159 NA 0.999884 0.99478 NA 1 NA 5.6672826 1093 7 99956290 99956290 C G intronic PILRB NA NA NA intronic ENSG00000121716 NA NA NA NA NA 7q22.1 NA Name=CTCF,NFKB,SMC3_(ab9263),PAX5-N19 Name=9 NA rs2906644 0.05 0.05 0.03 0.0355431 0.1113 NA 0.0562 0.0053 0.0204 0.12 NA 0.07 0.01 0.089 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.131657 NA NA 0.13251 0.026593 NA 0.036 NA 5.66719 1093 12 25368462 25368462 C T exonic KRAS NA synonymous SNV KRAS:NM_033360:exon5:c.G483A:p.R161R exonic ENSG00000133703 NA synonymous SNV ENSG00000133703:ENST00000256078:exon5:c.G483A:p.R161R Score=728;Name=lod=1211 NA 12p12.1 Score=691;Name=V$BRACH_01 NA NA NA rs4362222 1 1 1 0.997604 1 1 0.9971 0.9924 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 1.096518 NA NA 1 0.995688 NA 0.993 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039808.1;CLNDSDB=.;CLNDSDBID=. 5.6671666 1093 15 100672237 100672237 T G exonic ADAMTS17 NA synonymous SNV ADAMTS17:NM_139057:exon12:c.A1696C:p.R566R exonic ENSG00000140470 NA synonymous SNV ENSG00000140470:ENST00000268070:exon12:c.A1696C:p.R566R Score=561;Name=lod=255 NA 15q26.3 NA Name=GABP,E2F6,E2F6_(H-50),CTCF,SMC3_(ab9263),c-Myc,Rad21 Name=40 NA rs12907333 1 1 0.994 0.997604 1 1 1 0.9909 1 1 1 1 0.98 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 1.805873 1.805873 NA 1 0.995234 NA 0.993 NA 5.6671666 1093 1 78201745 78201745 G T exonic USP33 NA synonymous SNV USP33:NM_201624:exon6:c.C450A:p.A150A,USP33:NM_015017:exon7:c.C543A:p.A181A,USP33:NM_201626:exon7:c.C543A:p.A181A exonic ENSG00000077254 NA synonymous SNV ENSG00000077254:ENST00000357428:exon6:c.C543A:p.A181A,ENSG00000077254:ENST00000370794:exon6:c.C450A:p.A150A,ENSG00000077254:ENST00000370792:exon7:c.C543A:p.A181A,ENSG00000077254:ENST00000370793:exon7:c.C543A:p.A181A,ENSG00000077254:ENST00000524536:exon8:c.C543A:p.A181A Score=619;Name=lod=437 NA 1p31.1 NA NA NA NA rs2296227 0.42 0.42 0.448 0.489417 0.332 0.4077 0.2608 0.7451 0.5521 0.34 0.39 0.26 0.72 0.366 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.311785 NA NA 0.301628 0.67635 NA 0.384 NA 5.6670386 1093 17 48268223 48268223 A G exonic COL1A1 NA synonymous SNV COL1A1:NM_000088:exon33:c.T2298C:p.T766T exonic ENSG00000108821 NA synonymous SNV ENSG00000108821:ENST00000225964:exon33:c.T2298C:p.T766T Score=590;Name=lod=334 NA 17q21.33 NA Name=Pol2 Name=52 NA rs2734272 1 1 1 0.9998 1 1 0.9986 1 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 1.197789 NA NA 0.999884 0.999773 NA 1 NA 5.6669826 1093 1 165173216 165173216 A G exonic LMX1A NA synonymous SNV LMX1A:NM_001174069:exon9:c.T1050C:p.D350D,LMX1A:NM_177398:exon9:c.T1050C:p.D350D exonic ENSG00000162761 NA synonymous SNV ENSG00000162761:ENST00000367893:exon8:c.T1050C:p.D350D,ENSG00000162761:ENST00000294816:exon9:c.T1050C:p.D350D,ENSG00000162761:ENST00000342310:exon9:c.T1050C:p.D350D Score=690;Name=lod=853 NA 1q23.3 Score=857;Name=V$RFX1_01 NA Name=2 NA rs1354509 1 1 0.998 0.998802 1 1 1 0.9955 1 1 1 1 1 0.9997 1 NA NA 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 1 0.997503 NA 1 NA 5.6669666 1093 9 132686186 132686186 A G exonic FNBP1 NA synonymous SNV FNBP1:NM_015033:exon10:c.T1107C:p.H369H exonic ENSG00000187239 NA synonymous SNV ENSG00000187239:ENST00000355681:exon10:c.T1020C:p.H340H,ENSG00000187239:ENST00000420781:exon10:c.T1077C:p.H359H,ENSG00000187239:ENST00000446176:exon10:c.T1107C:p.H369H Score=750;Name=lod=1486 NA 9q34.11 NA NA NA NA rs4836680 1 1 1 0.999401 1 1 1 0.9977 1 1 1 1 1 0.9997 1 . . . . . . . . 0.000 P . . . . -1.000 T 0.000 T . 0.945 8.853 1.1 -0.057 1.420 9.944 0.94515 NA NA 1 0.996067 NA 1 NA 5.6669666 1093 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 1093 12 54367061 54367061 T G exonic HOXC11 NA synonymous SNV HOXC11:NM_014212:exon1:c.T36G:p.S12S exonic ENSG00000123388 NA synonymous SNV ENSG00000123388:ENST00000243082:exon1:c.T36G:p.S12S,ENSG00000123388:ENST00000546378:exon1:c.T36G:p.S12S Score=830;Name=lod=3161 NA 12q13.13 NA Name=TAF1,Pol2,Pol2(phosphoS2),CTCF,SUZ12,GTF2F1_(RAP-74) Name=43 NA rs4759315 1 1 1 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 0.736089 NA NA 1 0.997957 NA 1 NA 5.6668666 1093 4 140005294 140005294 A G exonic ELF2 NA synonymous SNV ELF2:NM_001276457:exon1:c.T51C:p.I17I,ELF2:NM_001276458:exon1:c.T51C:p.I17I,ELF2:NM_001276459:exon1:c.T51C:p.I17I,ELF2:NM_006874:exon1:c.T51C:p.I17I exonic ENSG00000109381 NA synonymous SNV ENSG00000109381:ENST00000358635:exon1:c.T51C:p.I17I,ENSG00000109381:ENST00000379549:exon1:c.T51C:p.I17I,ENSG00000109381:ENST00000420916:exon1:c.T51C:p.I17I,ENSG00000109381:ENST00000510408:exon1:c.T51C:p.I17I,ENSG00000109381:ENST00000512627:exon1:c.T51C:p.I17I Score=678;Name=lod=757 NA 4q31.1 NA Name=c-Myc,YY1_(C-20),YY1,TBP,Pol2(b),HDAC2_(SC-6296),FOXA1_(C-20),Pol2,HEY1,Pol2-4H8,TAF1 Name=146 NA rs4863628 1 1 1 0.999002 1 1 1 0.9962 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 1.434099 1.434099 NA 1 0.998638 NA 0.406 NA 5.6667666 1093 16 1034834 1034834 T C exonic SOX8 NA synonymous SNV SOX8:NM_014587:exon3:c.T789C:p.N263N exonic ENSG00000005513 NA synonymous SNV ENSG00000005513:ENST00000293894:exon3:c.T789C:p.N263N Score=548;Name=lod=226 NA 16p13.3 Score=923;Name=V$CEBP_Q2 NA NA NA rs237674 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 -0.514157 NA NA NA NA NA 0.797 NA 5.6667666 1093 4 183652175 183652175 T C exonic TENM3 NA synonymous SNV TENM3:NM_001080477:exon15:c.T2850C:p.D950D exonic ENSG00000218336 NA synonymous SNV ENSG00000218336:ENST00000406950:exon15:c.T2850C:p.D950D,ENSG00000218336:ENST00000511685:exon16:c.T2850C:p.D950D Score=611;Name=lod=407 NA 4q35.1 NA NA Name=5 NA rs10866256 1 1 1 1 1 1 1 1 1 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 1.049145 NA NA NA NA NA 1 NA 5.6666666 1093 15 50152583 50152583 G T exonic ATP8B4 NA synonymous SNV ATP8B4:NM_024837:exon28:c.C3387A:p.G1129G exonic ENSG00000104043 NA synonymous SNV ENSG00000104043:ENST00000284509:exon28:c.C3387A:p.G1129G,ENSG00000104043:ENST00000559829:exon28:c.C3387A:p.G1129G Score=629;Name=lod=482 NA 15q21.2 NA NA Name=70 NA rs4774549 1 1 1 1 1 1 1 1 1 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 1.082339 NA NA NA NA NA 1 NA 5.6666666 1093 15 68583175 68583175 T C exonic FEM1B NA synonymous SNV FEM1B:NM_015322:exon2:c.T1479C:p.N493N exonic ENSG00000169018 NA synonymous SNV ENSG00000169018:ENST00000306917:exon2:c.T1479C:p.N493N Score=428;Name=lod=73 NA 15q23 Score=707;Name=V$BRACH_01 NA NA NA rs6494729 1 1 0.999 0.999601 1 1 1 0.9985 1 1 1 1 1 1 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.641776 NA NA NA NA NA 1 NA 5.6666666 1093 19 7928462 7928462 T C exonic EVI5L NA synonymous SNV EVI5L:NM_001159944:exon19:c.T2292C:p.Y764Y,EVI5L:NM_145245:exon19:c.T2259C:p.Y753Y exonic ENSG00000142459 NA synonymous SNV ENSG00000142459:ENST00000270530:exon19:c.T2259C:p.Y753Y,ENSG00000142459:ENST00000538904:exon19:c.T2292C:p.Y764Y Score=358;Name=lod=38 NA 19p13.2 Score=857;Name=V$GRE_C NA NA NA rs10410459 1 1 1 0.9998 1 0.999 1 1 1 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 -0.521664 NA NA NA NA NA 0.942 NA 5.6666666 1093 8 1853871 1853871 C T exonic ARHGEF10 NA synonymous SNV ARHGEF10:NM_014629:exon17:c.C1956T:p.T652T exonic ENSG00000104728 NA synonymous SNV ENSG00000104728:ENST00000522435:exon8:c.C975T:p.T325T,ENSG00000104728:ENST00000520359:exon16:c.C1842T:p.T614T,ENSG00000104728:ENST00000262112:exon17:c.C2031T:p.T677T,ENSG00000104728:ENST00000349830:exon17:c.C1956T:p.T652T,ENSG00000104728:ENST00000398564:exon17:c.C2031T:p.T677T,ENSG00000104728:ENST00000518288:exon18:c.C2028T:p.T676T NA NA 8p23.3 NA NA NA NA rs200487137 0 0 NA 0.000199681 NA 0.001 NA NA NA NA NA NA NA 0.00005769 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.991858 NA NA NA NA NA NA NA 5.6666089 1093 1 120436787 120436787 G A exonic ADAM30 NA synonymous SNV ADAM30:NM_021794:exon1:c.C2173T:p.L725L exonic ENSG00000134249 NA synonymous SNV ENSG00000134249:ENST00000369400:exon1:c.C2173T:p.L725L NA NA 1p12 NA NA NA NA rs375307271 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004121 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 -0.795782 NA NA 0.000116 0 NA NA NA 5.6665094 1093 2 231973465 231973465 T G exonic HTR2B NA synonymous SNV HTR2B:NM_000867:exon4:c.A1212C:p.S404S exonic ENSG00000135914 NA synonymous SNV ENSG00000135914:ENST00000258400:exon4:c.A1212C:p.S404S NA NA 2q37.1 NA NA NA NA rs376620755 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004121 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 -1.399535 NA NA 0.000116 0 NA NA NA 5.6665094 1093 1 205034348 205034348 C T exonic CNTN2 NA synonymous SNV CNTN2:NM_005076:exon13:c.C1653T:p.I551I exonic ENSG00000184144 NA synonymous SNV ENSG00000184144:ENST00000331830:exon13:c.C1653T:p.I551I NA NA 1q32.1 NA NA NA NA rs147493920 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009061 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 -0.007433 NA NA 0.000116 0 NA NA NA 5.66646 1093 20 30742996 30742996 G T intronic TM9SF4 NA NA NA intronic ENSG00000101337 NA NA NA NA NA 20q11.21 NA Name=PU.1,Max,c-Myc,STAT3 Name=118 NA rs1205843 0.05 0.05 0.035 0.0547125 0.1054 NA 0.0634 0.0015 0.1247 0.11 NA 0.07 0.002 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 -0.413678 NA NA 0.129651 0.027916 NA 0.014 NA 5.666349 1093 1 86591209 86591209 C T exonic COL24A1 NA synonymous SNV COL24A1:NM_152890:exon3:c.G810A:p.P270P exonic ENSG00000171502 NA synonymous SNV ENSG00000171502:ENST00000370571:exon3:c.G810A:p.P270P,ENSG00000171502:ENST00000426639:exon3:c.G810A:p.P270P,ENSG00000171502:ENST00000436319:exon3:c.G810A:p.P270P NA NA 1p22.3 NA NA NA NA rs372411859 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 -1.806641 NA NA 0.000243 0 NA NA NA 5.6663236 1093 6 159652931 159652931 G C exonic FNDC1 NA nonsynonymous SNV FNDC1:NM_032532:exon11:c.G1387C:p.E463Q exonic ENSG00000164694 NA nonsynonymous SNV ENSG00000164694:ENST00000340366:exon10:c.G1198C:p.E400Q,ENSG00000164694:ENST00000297267:exon11:c.G1387C:p.E463Q NA NA 6q25.3 NA NA NA NA rs420137 0.8 0.8 0.791 0.784545 0.9076 0.621 0.8646 0.7133 0.8661 0.92 0.63 0.89 0.74 0.8634 0.92 0.64 T 0.0 B 0.001 B 0.914 N 1.000 P -1.39 N 4.12 T -0.967 T 0.011 T 0.064 -0.792 0.698 2.79 0.301 -0.110 11.566 -0.79177 NA 0.44 0.89601 0.760417 ID=COSM450819;OCCURENCE=1(breast) 0.754 NA 5.6663234 1093 8 145770922 145770922 G A exonic ARHGAP39 NA synonymous SNV ARHGAP39:NM_025251:exon7:c.C2232T:p.C744C exonic ENSG00000147799 NA synonymous SNV ENSG00000147799:ENST00000276826:exon5:c.C2232T:p.C744C,ENSG00000147799:ENST00000377307:exon5:c.C2232T:p.C744C,ENSG00000147799:ENST00000540274:exon6:c.C2232T:p.C744C NA NA 8q24.3 NA NA NA NA rs144121067 NA NA NA NA NA NA NA 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 0.789475 NA NA 0.000349 0 NA NA NA 5.6660176 1093 3 9786819 9786819 C T exonic BRPF1 NA synonymous SNV BRPF1:NM_001003694:exon10:c.C3048T:p.S1016S,BRPF1:NM_004634:exon10:c.C3030T:p.S1010S exonic ENSG00000156983 NA synonymous SNV ENSG00000156983:ENST00000433861:exon9:c.C2745T:p.S915S,ENSG00000156983:ENST00000457855:exon9:c.C3030T:p.S1010S,ENSG00000156983:ENST00000302054:exon10:c.C3030T:p.S1010S,ENSG00000156983:ENST00000383829:exon10:c.C3048T:p.S1016S,ENSG00000156983:ENST00000424362:exon10:c.C3027T:p.S1009S NA NA 3p25.3 NA NA NA NA rs200855358 0.0005 0.0005 NA 0.000199681 NA 0.001 NA NA NA NA 0.0017 NA NA 0.0005 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 0.979942 NA NA 0.000233 0.000227 NA NA NA 5.6659336 1093 X 38182792 38182792 C T intronic RPGR NA NA NA intronic ENSG00000156313,ENSG00000250349 NA NA NA NA NA Xp11.4 NA Name=FOXA1_(C-20) NA NA rs6651585 0.32 0.32 0.32432 NA NA NA NA NA NA 0.1 0.64 0.26 0.36 0.2282 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.093873 NA NA 0.106155 0.393426 NA 0.188 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078652.1;CLNDSDB=.;CLNDSDBID=. 5.665645 1093 19 40197278 40197278 C T exonic LGALS14 NA synonymous SNV LGALS14:NM_020129:exon2:c.C57T:p.C19C,LGALS14:NM_203471:exon3:c.C144T:p.C48C exonic ENSG00000006659 NA synonymous SNV ENSG00000006659:ENST00000392052:exon2:c.C57T:p.C19C,ENSG00000006659:ENST00000360675:exon3:c.C144T:p.C48C NA NA 19q13.2 NA NA NA NA rs143548297 0.0005 0.0005 0.001 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0000824 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 -0.482023 NA NA NA NA ID=COSM189134;OCCURENCE=1(large_intestine) NA NA 5.6655842 1093 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 1094 2 48807976 48807976 T C exonic STON1,STON1-GTF2A1L NA synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.T204C:p.D68D,STON1-GTF2A1L:NM_001198593:exon2:c.T204C:p.D68D,STON1:NM_006873:exon2:c.T204C:p.D68D,STON1-GTF2A1L:NM_172311:exon2:c.T204C:p.D68D,STON1:NM_001198595:exon3:c.T204C:p.D68D exonic ENSG00000068781,ENSG00000243244 NA synonymous SNV ENSG00000068781:ENST00000309827:exon1:c.T204C:p.D68D,ENSG00000243244:ENST00000309835:exon1:c.T204C:p.D68D,ENSG00000068781:ENST00000394751:exon1:c.T204C:p.D68D,ENSG00000068781:ENST00000394754:exon2:c.T204C:p.D68D,ENSG00000068781:ENST00000402114:exon2:c.T204C:p.D68D,ENSG00000243244:ENST00000404752:exon2:c.T204C:p.D68D,ENSG00000068781:ENST00000405008:exon2:c.T204C:p.D68D,ENSG00000243244:ENST00000406226:exon3:c.T204C:p.D68D Score=553;Name=lod=236 NA 2p16.3 NA NA NA NA rs3828340 0.34 0.34 0.367 0.339457 0.326 0.3919 0.3184 0.2791 0.3957 0.34 0.42 0.29 0.29 0.3472 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.955632 NA NA 0.328953 0.298684 NA 0.304 NA 5.6645136 1094 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 1094 18 34647053 34647053 A G exonic KIAA1328 NA synonymous SNV KIAA1328:NM_020776:exon7:c.A777G:p.L259L exonic ENSG00000150477 NA synonymous SNV ENSG00000150477:ENST00000543923:exon6:c.A453G:p.L151L,ENSG00000150477:ENST00000280020:exon7:c.A777G:p.L259L,ENSG00000150477:ENST00000591619:exon7:c.A765G:p.L255L NA NA 18q12.2 NA NA NA NA rs200193060 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0005 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 -1.820295 NA NA 0.000977 0.000268 NA NA NA 5.6641896 1094 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 1094 14 39517925 39517925 T C exonic SEC23A NA synonymous SNV SEC23A:NM_006364:exon15:c.A1668G:p.K556K exonic ENSG00000100934 NA synonymous SNV ENSG00000100934:ENST00000537403:exon11:c.A1062G:p.K354K,ENSG00000100934:ENST00000536508:exon14:c.A1290G:p.K430K,ENSG00000100934:ENST00000545328:exon14:c.A1581G:p.K527K,ENSG00000100934:ENST00000307712:exon15:c.A1668G:p.K556K Score=653;Name=lod=599 NA 14q21.1 NA NA NA NA rs11556216 0.28 0.28 0.265 0.247804 0.3509 0.3065 0.281 0.0673 0.3016 0.36 0.33 0.28 0.09 0.3097 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.883503 NA NA 0.342558 0.114843 NA 0.348 NA 5.6635086 1094 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 1094 3 13679203 13679203 G A exonic FBLN2 NA synonymous SNV FBLN2:NM_001998:exon17:c.G3339A:p.T1113T,FBLN2:NM_001004019:exon18:c.G3480A:p.T1160T,FBLN2:NM_001165035:exon18:c.G3480A:p.T1160T exonic ENSG00000163520 NA synonymous SNV ENSG00000163520:ENST00000295760:exon17:c.G3339A:p.T1113T,ENSG00000163520:ENST00000535798:exon17:c.G3417A:p.T1139T,ENSG00000163520:ENST00000404922:exon18:c.G3480A:p.T1160T,ENSG00000163520:ENST00000492059:exon18:c.G3480A:p.T1160T NA NA 3p25.1 Score=709;Name=V$HOX13_01 NA NA NA rs1061375 0.5 0.5 0.533 0.515775 0.3231 0.6369 0.3876 0.764 0.3446 0.31 0.6 0.4 0.77 0.3798 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 0.194873 NA NA 0.300473 0.649229 NA 0.457 NA 5.6632936 1094 6 168459845 168459845 G C exonic FRMD1 NA nonsynonymous SNV FRMD1:NM_001122841:exon10:c.C1162G:p.Q388E,FRMD1:NM_024919:exon10:c.C1366G:p.Q456E exonic ENSG00000153303 NA nonsynonymous SNV ENSG00000153303:ENST00000537786:exon9:c.C679G:p.Q227E,ENSG00000153303:ENST00000283309:exon10:c.C1366G:p.Q456E,ENSG00000153303:ENST00000440994:exon10:c.C1162G:p.Q388E NA NA 6q27 NA Name=CTCF NA NA rs1548349 0.87 0.87 0.866 0.86861 0.8926 0.8482 0.817 0.8502 0.9264 0.9 0.87 0.79 0.89 0.8788 0.9 0.97 T 0.0 B 0.0 B 0.014 N 1.000 P -0.69 N 0.95 T -1.030 T 0.011 T 0.014 -2.433 0.003 0.236 -0.917 -0.638 6.59 -2.433115 NA 0.21 0.898789 0.864778 ID=COSM1567921;OCCURENCE=1(large_intestine) 0.899 NA 5.6631444 1094 6 36945393 36945393 G A intronic MTCH1 NA NA NA intronic ENSG00000137409 NA NA NA NA NA 6p21.2 NA Name=Rad21,CTCFL_(SC-98982),SMC3_(ab9263),Egr-1,CTCF,CTCF_(SC-5916),CTCF_(C-20) Name=28 NA rs76406709 0.11 0.11 0.086 0.134385 0.0895 0.0327 0.1124 0.2277 0.1748 0.08 0.04 0.11 0.26 0.1602 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.780591 NA NA 0.08757 0.192851 NA 0.145 NA 5.66273 1094 5 176931341 176931341 G A exonic DOK3 NA synonymous SNV DOK3:NM_024872:exon6:c.C1134T:p.S378S exonic ENSG00000146094 NA synonymous SNV ENSG00000146094:ENST00000357198:exon6:c.C1134T:p.S378S,ENSG00000146094:ENST00000501403:exon6:c.C966T:p.S322S NA NA 5q35.3 NA NA NA NA rs113301444 0.01 0.01 0.019 0.00898562 NA NA 0.0029 0.0325 NA NA NA 0.01 0.05 0.0032 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 -1.062696 NA NA 0.000814 0.014539 NA 0.022 NA 5.6626526 1094 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 1094 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 1094 16 46771808 46771808 A G exonic MYLK3 NA synonymous SNV MYLK3:NM_182493:exon3:c.T816C:p.N272N exonic ENSG00000140795 NA synonymous SNV ENSG00000140795:ENST00000394809:exon3:c.T816C:p.N272N NA NA 16q11.2 NA NA NA NA rs55889699 0.0009 0.0009 NA 0.000599042 0.003 NA NA NA NA 0.0026 NA NA NA 0.0006 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 0.162058 NA NA 0.001628 0.000227 NA NA NA 5.6614386 1094 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=TAF1,Pol2-4H8,Pol2,HA-E2F1,Ini1,CCNT2,TBP,Sin3Ak-20 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 1094 2 180810264 180810264 A T exonic CWC22 NA nonsynonymous SNV CWC22:NM_020943:exon20:c.T2319A:p.S773R exonic ENSG00000163510 NA nonsynonymous SNV ENSG00000163510:ENST00000295749:exon20:c.T2319A:p.S773R,ENSG00000163510:ENST00000410053:exon20:c.T2319A:p.S773R Score=419;Name=lod=67 NA 2q31.3 NA NA NA NA rs6433818 0.94 0.94 0.944 0.93131 0.8976 0.9931 0.8963 0.9539 0.8967 0.89 1 0.91 0.97 0.8982 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.59 N 3.65 T -1.030 T 0.000 T 0.055 -1.528 0.016 -0.613 -0.316 0.475 3.068 -1.528003 NA 1 0.876339 0.941113 NA 0.978 NA 5.6611944 1094 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 1094 20 17705849 17705849 C T intronic BANF2 NA NA NA intronic ENSG00000125888 NA NA NA NA NA 20p12.1 NA Name=TCF4,RXRA,USF-1 Name=12 NA rs2296907 0.43 0.43 0.398 0.439696 0.339 0.6002 0.2954 0.469 0.4407 0.34 0.6 0.34 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 -0.617551 NA NA NA NA NA 0.406 NA 5.661 1094 6 159655383 159655383 A G exonic FNDC1 NA nonsynonymous SNV FNDC1:NM_032532:exon11:c.A3839G:p.Q1280R exonic ENSG00000164694 NA nonsynonymous SNV ENSG00000164694:ENST00000340366:exon10:c.A3650G:p.Q1217R,ENSG00000164694:ENST00000297267:exon11:c.A3839G:p.Q1280R NA NA 6q25.3 NA NA NA NA rs2501176 0.8 0.8 0.77 0.786142 0.9085 0.626 0.8646 0.7133 0.8681 0.92 0.64 0.88 0.75 0.868 0.92 1 T 0.0 B 0.001 B 0.631 N 1.000 P -0.895 N 4.14 T -0.914 T 0.002 T 0.067 -0.434 1.983 -3.37 -0.900 -0.277 7.868 -0.433606 NA 1 0.895874 0.758982 NA 0.783 NA 5.6609594 1094 19 49416456 49416456 G A intronic NUCB1 NA NA NA ncRNA_intronic ENSG00000235191 NA NA NA Score=613;Name=lod=415 NA 19q13.33 NA Name=Znf143_(16618-1-AP),BAF170,SIX5 Name=16 NA rs2387579 0.56 0.56 0.576 0.5 0.5915 0.6915 0.4553 0.3797 0.4029 0.6 0.67 0.5 0.4 0.5328 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 1.510351 1.510351 NA 0.548256 0.417385 NA 0.616 NA 5.6607773 1094 18 9258551 9258551 T C exonic ANKRD12 NA synonymous SNV ANKRD12:NM_001083625:exon8:c.T5217C:p.S1739S,ANKRD12:NM_001204056:exon8:c.T5217C:p.S1739S,ANKRD12:NM_015208:exon9:c.T5286C:p.S1762S exonic ENSG00000101745 NA synonymous SNV ENSG00000101745:ENST00000383440:exon8:c.T5217C:p.S1739S,ENSG00000101745:ENST00000400020:exon8:c.T5217C:p.S1739S,ENSG00000101745:ENST00000262126:exon9:c.T5286C:p.S1762S NA NA 18p11.22 NA NA NA NA rs145087479 0.0009 0.0009 NA 0.000599042 0.003 NA NA NA NA 0.0026 NA NA NA 0.0011 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 0.642673 NA NA 0.002093 0.000908 NA NA NA 5.6604736 1094 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 1094 1 160851894 160851894 G A exonic ITLN1 NA synonymous SNV ITLN1:NM_017625:exon4:c.C258T:p.H86H exonic ENSG00000179914 NA synonymous SNV ENSG00000179914:ENST00000326245:exon4:c.C258T:p.H86H Score=514;Name=lod=163 NA 1q23.3 NA Name=Egr-1 NA NA rs2274908 0.61 0.61 0.58 0.577875 0.6779 0.6944 0.6945 0.3147 0.6278 0.67 0.72 0.66 0.33 0.6475 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.194692 NA NA 0.681047 0.368815 NA 0.594 NA 5.6602196 1094 7 141952110 141952110 G A exonic PRSS58 NA synonymous SNV PRSS58:NM_001001317:exon6:c.C657T:p.A219A exonic ENSG00000258223 NA synonymous SNV ENSG00000258223:ENST00000552471:exon5:c.C657T:p.A219A,ENSG00000258223:ENST00000547058:exon6:c.C657T:p.A219A Score=414;Name=lod=64 NA 7q34 NA NA NA NA rs1052406 0.22 0.22 0.201 0.205671 0.3469 0.0089 0.2277 0.2088 0.2434 0.35 0.01 0.26 0.22 0.2863 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.371986 1.371986 NA 0.373488 0.243305 NA 0.167 NA 5.6599786 1094 11 118529127 118529127 G A exonic TREH NA unknown UNKNOWN exonic ENSG00000118094 NA synonymous SNV ENSG00000118094:ENST00000530256:exon13:c.C1254T:p.G418G,ENSG00000118094:ENST00000397925:exon14:c.C1530T:p.G510G,ENSG00000118094:ENST00000525958:exon14:c.C1530T:p.G510G,ENSG00000118094:ENST00000264029:exon15:c.C1623T:p.G541G,ENSG00000118094:ENST00000529101:exon15:c.C1623T:p.G541G Score=521;Name=lod=175 NA 11q23.3 NA NA NA NA rs7928371 0.19 0.19 0.183 0.220048 0.2147 0.2282 0.2118 0.1082 0.3742 0.18 0.24 0.25 0.1 0.2431 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.270538 1.270538 NA 0.215632 0.118624 NA 0.217 NA 5.6599013 1094 20 60898891 60898891 C T exonic LAMA5 NA synonymous SNV LAMA5:NM_005560:exon44:c.G5790A:p.L1930L exonic ENSG00000130702 NA synonymous SNV ENSG00000130702:ENST00000252999:exon44:c.G5790A:p.L1930L NA NA 20q13.33 NA NA NA NA rs138911913 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0027 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 -0.194688 NA NA 0.003733 0.000229 NA NA NA 5.6592336 1094 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 1094 8 23021256 23021256 C T intronic TNFRSF10D NA NA NA intronic ENSG00000173530 NA NA NA NA NA 8p21.3 NA Name=ZNF263,TAF1,HA-E2F1,Pol2 Name=135 NA rs61760054 0.06 0.06 0.048 0.0453275 0.1203 0.0099 0.085 0.0038 0.0327 0.12 0.01 0.09 0.01 0.1058 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 0.662811 NA NA 0.115054 0.024329 NA 0.036 NA 5.658846 1094 6 32629847 32629847 A G exonic HLA-DQB1 NA synonymous SNV HLA-DQB1:NM_001243961:exon3:c.T558C:p.T186T,HLA-DQB1:NM_002123:exon3:c.T558C:p.T186T exonic ENSG00000179344 NA nonsynonymous SNV ENSG00000179344:ENST00000484729:exon3:c.T395C:p.L132P Score=467;Name=lod=105 NA 6p21.32 NA Name=Pol2-4H8 NA NA rs1049133 0.8 0.8 0.758 0.83127 0.7903 0.9087 0.8703 0.7375 0.8926 0.78 0.87 0.87 0.7 0.7985 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 -2.481326 NA NA 0.752442 0.712176 NA 0.362 NA 5.658758 1094 2 25050977 25050977 T C exonic ADCY3 NA synonymous SNV ADCY3:NM_004036:exon13:c.A2226G:p.E742E exonic ENSG00000138031 NA synonymous SNV ENSG00000138031:ENST00000455323:exon3:c.A243G:p.E81E,ENSG00000138031:ENST00000260600:exon13:c.A2226G:p.E742E NA NA 2p23.3 NA Name=ZNF263,Pol2 Name=148 NA rs7566416 0.67 0.67 0.613 0.659545 0.669 0.878 0.768 0.4115 0.683 0.67 0.87 0.76 0.38 0.6712 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 0.185905 NA NA 0.667791 0.440309 NA 0.681 NA 5.6586756 1094 4 129012638 129012638 A G exonic LARP1B NA synonymous SNV LARP1B:NM_018078:exon7:c.A639G:p.A213A,LARP1B:NM_032239:exon7:c.A639G:p.A213A,LARP1B:NM_178043:exon7:c.A639G:p.A213A exonic ENSG00000138709 NA synonymous SNV ENSG00000138709:ENST00000264584:exon6:c.A498G:p.A166A,ENSG00000138709:ENST00000508819:exon6:c.A498G:p.A166A,ENSG00000138709:ENST00000326639:exon7:c.A639G:p.A213A,ENSG00000138709:ENST00000394288:exon7:c.A639G:p.A213A,ENSG00000138709:ENST00000427266:exon7:c.A639G:p.A213A,ENSG00000138709:ENST00000432347:exon7:c.A639G:p.A213A,ENSG00000138709:ENST00000441387:exon7:c.A639G:p.A213A,ENSG00000138709:ENST00000512292:exon7:c.A639G:p.A213A NA NA 4q28.2 Score=889;Name=V$CEBP_Q2 NA NA NA rs1064205 0.6 0.6 0.581 0.637979 0.675 0.5288 0.7161 0.5651 0.7556 0.68 0.46 0.7 0.57 0.6678 0.7 . . . . . . . . 0.968 P . . . . -0.984 T 0.000 T . 0.984 9.017 -0.010 -0.061 0.189 3.470 0.984024 NA NA 0.665581 0.626419 NA 0.594 NA 5.6582856 1094 3 134322814 134322814 G C exonic KY NA synonymous SNV KY:NM_178554:exon11:c.C1593G:p.G531G exonic ENSG00000174611 NA synonymous SNV ENSG00000174611:ENST00000508956:exon10:c.C1530G:p.G510G,ENSG00000174611:ENST00000423778:exon11:c.C1593G:p.G531G Score=498;Name=lod=141 NA 3q22.2 NA NA NA NA rs2293294 0.29 0.29 0.322 0.295927 0.33 0.1101 0.2349 0.413 0.3374 0.32 0.13 0.27 0.43 0.3221 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.437898 NA NA 0.35631 0.384008 ID=COSM149478;OCCURENCE=1(stomach) 0.384 NA 5.6582566 1094 8 101625248 101625248 C T exonic SNX31 NA synonymous SNV SNX31:NM_152628:exon6:c.G498A:p.R166R exonic ENSG00000174226 NA synonymous SNV ENSG00000174226:ENST00000428383:exon3:c.G201A:p.R67R,ENSG00000174226:ENST00000520352:exon5:c.G300A:p.R100R,ENSG00000174226:ENST00000311812:exon6:c.G498A:p.R166R NA NA 8q22.3 NA NA NA NA rs145842613 0.0009 0.0009 NA 0.000599042 0.002 NA NA 0.0008 NA 0.0026 NA NA NA 0.0019 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 1.150672 NA NA 0.004767 0.000908 NA NA NA 5.6579996 1094 16 5075542 5075542 G A exonic NAGPA NA synonymous SNV NAGPA:NM_016256:exon10:c.C1485T:p.N495N exonic ENSG00000103174 NA synonymous SNV ENSG00000103174:ENST00000381955:exon9:c.C1383T:p.N461N,ENSG00000103174:ENST00000312251:exon10:c.C1485T:p.N495N NA NA 16p13.3 NA Name=CTCF,GABP,YY1_(C-20),Rad21 Name=30 NA rs887854 0.77 0.77 0.78 0.792532 0.6581 0.8224 0.6988 0.8941 0.8292 0.66 0.83 0.72 0.9 0.7017 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 -1.003728 NA NA 0.649419 0.850023 NA 0.696 NA 5.6574476 1094 15 79092603 79092603 G A exonic ADAMTS7 NA synonymous SNV ADAMTS7:NM_014272:exon2:c.C387T:p.H129H exonic ENSG00000136378 NA synonymous SNV ENSG00000136378:ENST00000388820:exon2:c.C387T:p.H129H Score=393;Name=lod=53 NA 15q25.1 NA NA NA NA rs6495329 0.38 0.38 0.407 0.41234 0.328 0.3323 0.3847 0.5598 0.4018 0.32 0.32 0.41 0.52 0.3821 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.776608 NA NA 0.299167 0.469596 ID=COSM329117;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.283 NA 5.6573996 1094 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 1094 10 122624679 122624679 G A exonic WDR11 NA synonymous SNV WDR11:NM_018117:exon6:c.G834A:p.T278T exonic ENSG00000120008 NA synonymous SNV ENSG00000120008:ENST00000497136:exon5:c.G57A:p.T19T,ENSG00000120008:ENST00000263461:exon6:c.G834A:p.T278T,ENSG00000120008:ENST00000604585:exon7:c.G57A:p.T19T Score=688;Name=lod=831 NA 10q26.12 NA NA NA NA rs10886789 0.31 0.31 0.299 0.322883 0.333 0.4177 0.4063 0.171 0.3609 0.34 0.4 0.37 0.13 0.3419 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.317413 1.317413 NA 0.335581 0.179755 ID=COSM147066;OCCURENCE=1(stomach) 0.297 NA 5.6561856 1094 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 1094 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 1094 15 55611433 55611433 A G UTR5 PIGB NM_004855:c.-16A>G NA NA UTR5 ENSG00000069943 ENST00000539642:c.-10552A>G,ENST00000164305:c.-16A>G,ENST00000565367:c.-16A>G,ENST00000570059:c.-16A>G NA NA NA NA 15q21.3 NA Name=NRSF,Mxi1_(bHLH),PAX5-C20,Sin3Ak-20,THAP1_(SC-98174),SIX5,Oct-2,c-Myc,Max,YY1_(C-20),ZBTB33,GR,GTF2F1_(RAP-74),YY1,PU.1,ZBTB7A_(SC-34508),Egr-1,TBP,POU2F2,GTF2B,HDAC2_(SC-6296),p300,Ini1,TAF7_(SQ-8),HA-E2F1,Pol2,BCLAF1_(M33-P5B11),ELF1_(SC-631),HEY1,ETS1,GABP,Pol2-4H8,TAF1,BCL3,NFKB,IRF4_(M-17) Name=148 NA rs28668016 0.3 0.3 0.266 0.326078 0.1879 0.5655 0.255 0.2844 0.3282 0.17 0.51 0.24 0.29 0.3166 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.638836 NA NA 0.173193 0.240874 NA 0.435 NA 5.6556404 1095 19 504830 504830 C T exonic MADCAM1 NA synonymous SNV MADCAM1:NM_130762:exon4:c.C753T:p.T251T,MADCAM1:NM_130760:exon5:c.C1014T:p.T338T exonic ENSG00000099866 NA synonymous SNV ENSG00000099866:ENST00000382683:exon3:c.C468T:p.T156T,ENSG00000099866:ENST00000587541:exon3:c.C357T:p.T119T,ENSG00000099866:ENST00000346144:exon4:c.C753T:p.T251T,ENSG00000099866:ENST00000215637:exon5:c.C1014T:p.T338T NA NA 19p13.3 NA NA NA NA rs7246543 NA NA NA 0.00259585 0.007 NA 0.0058 0.0008 0.001 NA NA NA NA 0.0052 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 0.166506 NA NA NA NA NA 0.007 NA 5.6544666 1095 12 113376452 113376452 C T exonic OAS3 NA synonymous SNV OAS3:NM_006187:exon1:c.C117T:p.A39A exonic ENSG00000111331 NA synonymous SNV ENSG00000111331:ENST00000228928:exon1:c.C117T:p.A39A,ENSG00000111331:ENST00000548514:exon1:c.C117T:p.A39A,ENSG00000111331:ENST00000551007:exon1:c.C117T:p.A39A NA NA 12q24.13 NA Name=HA-E2F1,Pol2,SUZ12,YY1_(C-20) Name=141 NA rs1859329 0.78 0.78 0.739 0.786142 0.6352 0.748 0.7738 0.9887 0.7157 0.65 0.78 0.75 0.98 0.7253 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 0.866041 NA NA 0.65183 0.931083 NA 0.659 NA 5.6543366 1095 11 118765108 118765108 G A exonic CXCR5 NA synonymous SNV CXCR5:NM_032966:exon1:c.G720A:p.A240A,CXCR5:NM_001716:exon2:c.G855A:p.A285A exonic ENSG00000160683 NA synonymous SNV ENSG00000160683:ENST00000292174:exon2:c.G855A:p.A285A NA NA 11q23.3 NA NA NA NA rs113967672 0.0014 0.0014 NA 0.000998403 0.004 NA 0.0014 NA NA 0.004 NA NA NA 0.0042 0.0042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.811119 NA NA 0.004191 0.000682 NA NA NA 5.6542756 1095 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 1095 3 52365225 52365225 C T exonic DNAH1 NA synonymous SNV DNAH1:NM_015512:exon7:c.C933T:p.D311D exonic ENSG00000114841 NA synonymous SNV ENSG00000114841:ENST00000420323:exon7:c.C933T:p.D311D NA NA 3p21.1 NA NA NA NA rs199505182 0.0009 0.0009 0.002 0.000798722 0.002 NA 0.0029 NA NA 0.0013 NA 0.0028 NA 0.0049 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 -1.02219 NA NA 0.005722 0.000733 NA NA NA 5.6540446 1095 17 48356260 48356260 G C exonic TMEM92 NA nonsynonymous SNV TMEM92:NM_153229:exon4:c.G269C:p.S90T,TMEM92:NM_001168215:exon5:c.G269C:p.S90T exonic ENSG00000167105 NA nonsynonymous SNV ENSG00000167105:ENST00000507382:exon4:c.G269C:p.S90T,ENSG00000167105:ENST00000300433:exon5:c.G269C:p.S90T NA NA 17q21.33 NA NA NA NA rs6504642 0.64 0.64 0.653 0.543331 0.5467 0.5982 0.5677 0.4871 0.5419 0.59 0.73 0.59 0.66 0.5438 0.73 1 T 0.0 B 0.0 B 0.244 N 1.000 P 0 N 3.47 T -0.987 T 0.000 T 0.009 -1.17 0.089 -0.12 -0.394 -0.745 6.270 -1.170336 NA NA 0.589302 0.610531 NA 0.522 NA 5.6535314 1095 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 1095 7 149515103 149515103 C T exonic SSPO NA synonymous SNV SSPO:NM_198455:exon80:c.C11493T:p.G3831G ncRNA_exonic ENSG00000197558 NA NA NA NA NA 7q36.1 Score=876;Name=V$SPZ1_01 NA NA NA rs10250401 0.19 0.19 0.172 0.203075 0.1551 0.1746 0.2003 0.2496 0.2209 0.15 0.19 0.22 0.23 0.1929 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088254 NA NA 0.165819 0.201889 NA 0.138 NA 5.6528476 1095 6 72806844 72806844 C T exonic RIMS1 NA synonymous SNV RIMS1:NM_014989:exon3:c.C438T:p.R146R exonic ENSG00000079841 NA synonymous SNV ENSG00000079841:ENST00000264839:exon3:c.C438T:p.R146R,ENSG00000079841:ENST00000348717:exon3:c.C438T:p.R146R,ENSG00000079841:ENST00000491071:exon3:c.C438T:p.R146R,ENSG00000079841:ENST00000517960:exon3:c.C438T:p.R146R,ENSG00000079841:ENST00000518273:exon3:c.C438T:p.R146R,ENSG00000079841:ENST00000520567:exon3:c.C438T:p.R146R,ENSG00000079841:ENST00000521978:exon3:c.C438T:p.R146R,ENSG00000079841:ENST00000522291:exon3:c.C438T:p.R146R NA NA 6q13 NA NA NA NA rs142196418 0.0041 0.0041 0.001 0.00499201 0.005 NA 0.0029 0.0023 0.0153 0.01 NA 0.01 0.0041 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 1.006496 NA NA 0.00461 0.000718 NA 0.014 NA 5.6522566 1095 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=KAP1,ZNF274,SETDB1 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 1095 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 1095 1 165652273 165652273 A G exonic ALDH9A1 NA synonymous SNV ALDH9A1:NM_000696:exon3:c.T402C:p.I134I exonic ENSG00000143149 NA synonymous SNV ENSG00000143149:ENST00000354775:exon3:c.T402C:p.I134I,ENSG00000143149:ENST00000538148:exon3:c.T120C:p.I40I Score=539;Name=lod=207 NA 1q24.1 Score=800;Name=V$STAT3_01 NA NA NA rs1143659 0.74 0.74 0.692 0.746206 0.6372 0.9881 0.7723 0.6074 0.7781 0.62 0.99 0.75 0.61 0.7172 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.305258 NA NA 0.660465 0.63005 NA 0.645 NA 5.6518016 1095 2 25046090 25046090 T C exonic ADCY3 NA synonymous SNV ADCY3:NM_004036:exon17:c.A2871G:p.S957S exonic ENSG00000138031 NA synonymous SNV ENSG00000138031:ENST00000405392:exon15:c.A1632G:p.S544S,ENSG00000138031:ENST00000606682:exon15:c.A1812G:p.S604S,ENSG00000138031:ENST00000260600:exon17:c.A2871G:p.S957S NA NA 2p23.3 Score=814;Name=V$GFI1_01 NA NA Score=68;Name=1187806_0_-_68 rs1127568 0.7 0.7 0.674 0.691294 0.668 0.879 0.7695 0.5295 0.6851 0.67 0.87 0.75 0.5 0.6808 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 1.186115 NA NA 0.666163 0.545847 NA 0.688 NA 5.6517036 1095 1 86820267 86820267 C T exonic ODF2L NA synonymous SNV ODF2L:NM_001184766:exon14:c.G1467A:p.E489E,ODF2L:NM_001184765:exon15:c.G1554A:p.E518E,ODF2L:NM_001007022:exon16:c.G1713A:p.E571E,ODF2L:NM_020729:exon16:c.G1665A:p.E555E exonic ENSG00000122417 NA synonymous SNV ENSG00000122417:ENST00000462648:exon3:c.G234A:p.E78E,ENSG00000122417:ENST00000460698:exon11:c.G1254A:p.E418E,ENSG00000122417:ENST00000370566:exon14:c.G1467A:p.E489E,ENSG00000122417:ENST00000394731:exon14:c.G1233A:p.E411E,ENSG00000122417:ENST00000370567:exon15:c.G1626A:p.E542E,ENSG00000122417:ENST00000294678:exon16:c.G1665A:p.E555E,ENSG00000122417:ENST00000317336:exon16:c.G1713A:p.E571E,ENSG00000122417:ENST00000359242:exon16:c.G1713A:p.E571E Score=458;Name=lod=97 NA 1p22.3 NA NA NA NA rs1182098 0.74 0.74 0.759 0.754593 0.6551 0.8284 0.67 0.7821 0.8037 0.65 0.86 0.67 0.8 0.702 0.86 . . . . . . . . 0.000 P . . . . -1.015 T 0.091 T . 0.717 7.819 -0.431 -0.062 -0.014 11.919 0.717354 NA NA 0.658372 0.774626 NA 0.71 NA 5.6511946 1095 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 1095 19 47258674 47258674 C T UTR5 FKRP NM_001039885:c.-34C>T,NM_024301:c.-34C>T NA NA UTR5 ENSG00000181027 ENST00000318584:c.-34C>T,ENST00000601299:c.-34C>T,ENST00000595570:c.-34C>T,ENST00000391909:c.-34C>T,ENST00000593875:c.-34C>T,ENST00000597313:c.-34C>T,ENST00000598271:c.-34C>T,ENST00000600005:c.-34C>T,ENST00000600227:c.-34C>T,ENST00000593800:c.-34C>T,ENST00000602181:c.-34C>T,ENST00000600629:c.-34C>T,ENST00000595868:c.-34C>T,ENST00000602250:c.-34C>T,ENST00000596460:c.-34C>T,ENST00000600834:c.-34C>T,ENST00000593877:c.-34C>T,ENST00000593902:c.-34C>T NA NA Score=317;Name=lod=26 NA 19q13.32 NA NA NA NA rs3201779 0.11 0.11 0.123 0.103834 0.2256 0.001 0.1268 0.0446 0.1483 0.23 0.0017 0.15 0.03 0.2286 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.265787 NA NA 0.228147 0.060772 NA 0.138 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000082170.1|RCV000125117.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.6509864 1095 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,CTCF_(SC-5916),Rad21 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 1095 9 84214974 84214974 T G intronic TLE1 NA NA NA UTR3 ENSG00000196781 ENST00000376484:c.*30A>C NA NA NA NA 9q21.32 NA Name=GATA-2 Name=49 NA rs7039820 0.11 0.11 0.09 0.120807 0.1849 0.0208 0.1513 0.0696 0.2055 0.17 0.02 0.18 0.08 0.1886 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305774 NA NA 0.142283 0.076571 NA 0.087 NA 5.6508837 1095 9 140150310 140150310 G A intronic NELFB NA NA NA intronic ENSG00000188986 NA NA NA NA NA 9q34.3 NA Name=NRSF Name=37 NA rs11533155 0.15 0.15 0.127 0.141174 0.1183 0.3006 0.1081 0.0227 0.184 0.12 0.32 0.1 0.03 0.1276 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.972498 NA NA 0.103364 0.047489 NA 0.123 NA 5.650736 1095 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 1095 11 74329615 74329615 T C exonic POLD3 NA synonymous SNV POLD3:NM_006591:exon6:c.T426C:p.P142P exonic ENSG00000077514 NA synonymous SNV ENSG00000077514:ENST00000531615:exon4:c.T309C:p.P103P,ENSG00000077514:ENST00000532497:exon5:c.T108C:p.P36P,ENSG00000077514:ENST00000263681:exon6:c.T426C:p.P142P,ENSG00000077514:ENST00000527458:exon6:c.T309C:p.P103P,ENSG00000077514:ENST00000528481:exon6:c.T309C:p.P103P,ENSG00000077514:ENST00000530511:exon6:c.T309C:p.P103P Score=522;Name=lod=177 NA 11q13.4 NA NA NA NA rs4944052 0.38 0.38 0.387 0.449081 0.3221 0.3204 0.4424 0.5703 0.5532 0.31 0.28 0.43 0.56 0.371 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.391194 1.391194 NA 0.322968 0.568182 ID=COSM147289;OCCURENCE=1(stomach) 0.5 NA 5.6505986 1095 17 79478916 79478916 G T intronic ACTG1 NA NA NA intronic ENSG00000184009 NA NA NA NA NA 17q25.3 NA Name=Pol2-4H8,Pol2,Sin3Ak-20,ZBTB33,SP1 Name=121 NA rs9910792 0.55 0.55 0.532 0.558906 0.4185 0.8413 0.5086 0.4153 0.6421 0.43 0.84 0.48 0.45 0.4989 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 -1.283369 NA NA 0.432486 0.393767 NA 0.601 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037123.1;CLNDSDB=.;CLNDSDBID=. 5.650114 1095 1 152975715 152975715 C T exonic SPRR3 NA synonymous SNV SPRR3:NM_001097589:exon2:c.C219T:p.G73G,SPRR3:NM_005416:exon3:c.C219T:p.G73G exonic ENSG00000163209 NA synonymous SNV ENSG00000163209:ENST00000542696:exon1:c.C219T:p.G73G,ENSG00000163209:ENST00000295367:exon2:c.C219T:p.G73G,ENSG00000163209:ENST00000331860:exon3:c.C219T:p.G73G,ENSG00000163209:ENST00000443178:exon3:c.C219T:p.G73G NA NA 1q21.3 NA NA NA NA rs28989168 0.3 0.3 0.1 0.000399361 NA NA NA 0.0015 NA 0.26 0.36 0.3 0.31 0.0168 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106185 NA NA NA NA ID=COSM1334263;OCCURENCE=2(liver),1(large_intestine) NA NA 5.6498666 1095 22 51048400 51048400 A G intronic MAPK8IP2 NA NA NA exonic ENSG00000008735 NA nonsynonymous SNV ENSG00000008735:ENST00000008876:exon10:c.A1582G:p.T528A NA NA 22q13.33 NA NA NA NA rs2269380 0.21 0.21 0.205 0.22524 0.1402 0.1667 0.2536 0.3548 0.1779 0.14 0.17 0.23 0.37 0.2354 0.37 0.28 T . . . . . . 1.000 P . . 2.23 T -0.907 T 0.000 T 0.117 0.877 8.556 -0.168 -0.075 -0.722 2.473 0.876748 NA 0 0.141709 0.302511 NA 0.196 NA 5.6493577 1095 10 82034854 82034854 T C exonic MAT1A NA synonymous SNV MAT1A:NM_000429:exon7:c.A870G:p.V290V exonic ENSG00000151224 NA synonymous SNV ENSG00000151224:ENST00000372213:exon7:c.A870G:p.V290V Score=539;Name=lod=206 NA 10q23.1 Score=789;Name=V$CDPCR3_01 NA NA NA rs10788546 0.8 0.8 0.798 0.840855 0.6412 0.9712 0.7781 0.9266 0.8405 0.64 0.97 0.75 0.9 0.7504 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 1.321443 1.321443 NA 0.625756 0.872558 NA 0.775 NA 5.6493106 1095 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 1095 1 248004775 248004775 C T exonic OR11L1 NA nonsynonymous SNV OR11L1:NM_001001959:exon1:c.G424A:p.A142T exonic ENSG00000197591 NA nonsynonymous SNV ENSG00000197591:ENST00000355784:exon1:c.G424A:p.A142T NA NA 1q44 NA NA NA NA rs10888256 0.9 0.9 0.912 0.890575 0.8986 0.996 0.8804 0.7829 0.9264 0.91 1 0.9 0.79 0.9033 1 0.5 T 0.0 B 0.01 B 0.926 N 1.000 P -0.045 N 1.18 T -0.988 T 0.000 T 0.011 -1.393 0.024 1.79 -0.024 -3.051 9.314 -1.392685 NA 0.53 0.882326 0.781661 NA 0.877 NA 5.6491074 1095 1 248004848 248004848 G C exonic OR11L1 NA nonsynonymous SNV OR11L1:NM_001001959:exon1:c.C351G:p.F117L exonic ENSG00000197591 NA nonsynonymous SNV ENSG00000197591:ENST00000355784:exon1:c.C351G:p.F117L NA NA 1q44 NA NA NA NA rs4607924 0.9 0.9 0.907 0.890375 0.8986 0.996 0.8804 0.7821 0.9264 0.91 1 0.9 0.79 0.9033 1 0.1 T 0.0 B 0.0 B 0.351 U 1.000 P 0 N 5.03 T -0.993 T 0.000 T 0.045 0.535 6.899 1.29 -0.055 -1.811 9.089 0.535317 NA 0.4 0.882326 0.781434 NA 0.877 NA 5.6491074 1095 17 72218626 72218626 G A exonic TTYH2 NA synonymous SNV TTYH2:NM_032646:exon2:c.G132A:p.S44S exonic ENSG00000141540 NA synonymous SNV ENSG00000141540:ENST00000269346:exon2:c.G132A:p.S44S,ENSG00000141540:ENST00000529107:exon2:c.G69A:p.S23S NA NA 17q25.1 NA NA NA NA rs145281785 0.0032 0.0032 NA 0.00299521 0.007 NA 0.0029 0.0008 0.0051 0.01 NA 0.01 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 0.011448 NA NA 0.006163 0.001589 NA NA NA 5.6490036 1095 1 20411332 20411332 C T exonic PLA2G5 NA synonymous SNV PLA2G5:NM_000929:exon2:c.C9T:p.G3G exonic ENSG00000127472 NA synonymous SNV ENSG00000127472:ENST00000375108:exon2:c.C9T:p.G3G NA NA 1p36.12 Score=749;Name=V$MYOGNF1_01 NA NA NA rs2020887 0.27 0.27 0.266 0.251398 0.338 0.3065 0.2608 0.0953 0.3098 0.32 0.32 0.24 0.15 0.3298 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.204776 NA NA 0.349884 0.126645 ID=COSM146435;OCCURENCE=1(stomach) 0.159 NA 5.6489826 1095 10 46965727 46965727 G A exonic SYT15 NA synonymous SNV SYT15:NM_031912:exon5:c.C810T:p.A270A,SYT15:NM_181519:exon5:c.C810T:p.A270A exonic ENSG00000204176 NA synonymous SNV ENSG00000204176:ENST00000374328:exon2:c.C180T:p.A60A,ENSG00000204176:ENST00000374323:exon4:c.C969T:p.A323A,ENSG00000204176:ENST00000374321:exon5:c.C810T:p.A270A,ENSG00000204176:ENST00000374325:exon5:c.C810T:p.A270A,ENSG00000204176:ENST00000503753:exon5:c.C810T:p.A270A NA NA 10q11.22 NA Name=c-Myc NA NA rs1889849 0.51 0.51 NA NA NA NA NA NA NA 0.52 0.47 0.51 0.52 0.5069 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.84405 NA NA 0.510791 0.540241 NA 0.5 NA 5.6489756 1095 1 16736326 16736326 C T exonic SPATA21 NA synonymous SNV SPATA21:NM_198546:exon6:c.G357A:p.P119P exonic ENSG00000187144 NA synonymous SNV ENSG00000187144:ENST00000540400:exon4:c.G288A:p.P96P,ENSG00000187144:ENST00000335496:exon6:c.G357A:p.P119P NA NA 1p36.13 NA NA NA NA rs146259783 0.0037 0.0037 NA 0.00259585 0.008 NA 0.0072 NA NA 0.01 NA 0.01 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 -0.141366 NA NA 0.006163 0.000908 NA NA NA 5.6488036 1095 1 55223992 55223992 G A exonic PARS2 NA synonymous SNV PARS2:NM_152268:exon2:c.C843T:p.N281N exonic ENSG00000162396 NA synonymous SNV ENSG00000162396:ENST00000371279:exon2:c.C843T:p.N281N NA NA 1p32.3 NA NA NA NA rs145005088 0.0027 0.0027 0.001 0.00279553 0.007 NA 0.0029 NA 0.0051 0.01 NA NA 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 -1.661601 NA NA 0.006395 0.002043 NA NA NA 5.6481716 1095 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 1095 16 3100342 3100342 G A exonic MMP25 NA synonymous SNV MMP25:NM_022468:exon4:c.G456A:p.E152E exonic ENSG00000008516 NA synonymous SNV ENSG00000008516:ENST00000336577:exon4:c.G456A:p.E152E NA NA 16p13.3 NA NA NA NA rs141989362 0.0037 0.0037 0.003 0.00379393 0.0099 NA 0.0014 NA 0.0082 0.01 NA 0.0028 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 0.007681 NA NA 0.003488 0.000455 NA NA NA 5.6479786 1095 16 772141 772141 G C intronic FAM173A NA NA NA exonic ENSG00000103254 NA nonsynonymous SNV ENSG00000103254:ENST00000564000:exon4:c.G466C:p.A156P NA NA 16p13.3 NA Name=ZBTB7A_(SC-34508),Sin3Ak-20,GABP,ETS1,ELF1_(SC-631) Name=5 NA rs11867009 0.62 0.62 0.56 0.680911 0.4732 0.7788 0.611 0.671 0.8569 0.49 0.79 0.57 0.66 0.5878 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 0.581571 NA NA 0.4581 0.626089 NA 0.536 NA 5.6475667 1095 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 1095 11 495057 495057 G T intronic RNH1 NA NA NA intronic ENSG00000023191 NA NA NA NA NA 11p15.5 NA Name=CCNT2 Name=11 NA rs67912009 0.09 0.09 0.07 0.0870607 0.0994 0.002 0.2233 0.118 0.0235 0.1 NA 0.22 0.11 0.1293 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129568 NA NA 0.12436 0.108577 NA 0.08 NA 5.64694 1095 6 31729359 31729359 A G exonic MSH5 NA synonymous SNV MSH5:NM_002441:exon22:c.A2148G:p.Q716Q,MSH5:NM_025259:exon22:c.A2202G:p.Q734Q,MSH5:NM_172165:exon22:c.A2151G:p.Q717Q,MSH5:NM_172166:exon22:c.A2148G:p.Q716Q exonic ENSG00000204410,ENSG00000255152 NA synonymous SNV ENSG00000204410:ENST00000429846:exon2:c.A162G:p.Q54Q,ENSG00000204410:ENST00000484309:exon4:c.A372G:p.Q124Q,ENSG00000204410:ENST00000395853:exon11:c.A1170G:p.Q390Q,ENSG00000204410:ENST00000431848:exon14:c.A1245G:p.Q415Q,ENSG00000204410:ENST00000375703:exon22:c.A2151G:p.Q717Q,ENSG00000204410:ENST00000375740:exon22:c.A2202G:p.Q734Q,ENSG00000204410:ENST00000375742:exon22:c.A2199G:p.Q733Q,ENSG00000204410:ENST00000375750:exon22:c.A2148G:p.Q716Q,ENSG00000204410:ENST00000375755:exon22:c.A2148G:p.Q716Q,ENSG00000255152:ENST00000493662:exon22:c.A2199G:p.Q733Q,ENSG00000204410:ENST00000534153:exon22:c.A2199G:p.Q733Q Score=569;Name=lod=273 NA 6p21.33 NA NA NA NA rs707938 0.42 0.42 0.431 0.467252 0.3191 0.3512 0.4236 0.6929 0.4652 0.33 0.35 0.4 0.66 0.3854 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 1.249744 1.249744 NA 0.316744 0.646164 NA 0.399 NA 5.6454226 1095 3 4856285 4856285 G A intronic ITPR1 NA NA NA intronic ENSG00000150995,ENSG00000235978 NA NA NA NA NA 3p26.1 NA Name=c-Myc,CCNT2,eGFP-FOS,c-Fos,ZNF263,SIRT6,Pol2,HDAC2_(SC-6296),GTF2B,c-Jun,eGFP-JunB,p300_(F-4),ELF1_(SC-631),STAT1 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 1096 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 1096 19 10218524 10218524 C G exonic PPAN,PPAN-P2RY11 NA synonymous SNV PPAN-P2RY11:NM_001040664:exon4:c.C336G:p.V112V,PPAN-P2RY11:NM_001198690:exon4:c.C336G:p.V112V,PPAN:NM_020230:exon4:c.C336G:p.V112V exonic ENSG00000130810,ENSG00000243207 NA synonymous SNV ENSG00000130810:ENST00000393793:exon3:c.C177G:p.V59V,ENSG00000130810:ENST00000430370:exon3:c.C150G:p.V50V,ENSG00000130810:ENST00000253107:exon4:c.C336G:p.V112V,ENSG00000243207:ENST00000393796:exon4:c.C336G:p.V112V,ENSG00000243207:ENST00000428358:exon4:c.C336G:p.V112V,ENSG00000130810:ENST00000446223:exon4:c.C150G:p.V50V,ENSG00000130810:ENST00000556468:exon4:c.C336G:p.V112V Score=383;Name=lod=48 NA 19p13.2 NA NA NA NA rs2305791 0.29 0.29 0.281 0.269768 0.3628 0.3611 0.4135 0.025 0.3088 0.36 0.36 0.41 0.03 0.3225 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.362155 NA NA 0.336747 0.084961 NA 0.21 NA 5.6446196 1096 8 22886020 22886020 A G exonic TNFRSF10B NA nonsynonymous SNV TNFRSF10B:NM_003842:exon5:c.T572C:p.V191A exonic ENSG00000120889 NA nonsynonymous SNV ENSG00000120889:ENST00000276431:exon5:c.T572C:p.V191A NA NA 8p21.3 NA NA NA NA rs13265018 0.88 0.88 0.867 0.862819 0.8976 0.9861 0.879 0.7307 0.8671 0.91 0.98 0.84 0.74 0.8899 0.98 0.62 T 0.001 B 0.0 B . . 1.000 P -0.205 N -1.64 D -1.002 T 0.000 T 0.006 -1.669 0.012 0.015 -0.485 0.086 4.977 -1.668997 NA 1 0.901628 0.759873 NA 0.79 NA 5.6442054 1096 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=Pol2(b),NRSF,TAF1,Pol2-4H8,HEY1,Pol2,FOSL2,TAF7_(SQ-8),CTCF 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 1096 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 1096 5 80736444 80736444 A G exonic SSBP2 NA synonymous SNV SSBP2:NM_001256733:exon13:c.T801C:p.G267G,SSBP2:NM_001256734:exon13:c.T795C:p.G265G,SSBP2:NM_001256735:exon13:c.T771C:p.G257G,SSBP2:NM_001256736:exon13:c.T771C:p.G257G,SSBP2:NM_001256732:exon14:c.T885C:p.G295G,SSBP2:NM_012446:exon14:c.T861C:p.G287G exonic ENSG00000145687 NA synonymous SNV ENSG00000145687:ENST00000504985:exon10:c.T603C:p.G201G,ENSG00000145687:ENST00000512923:exon10:c.T579C:p.G193G,ENSG00000145687:ENST00000505980:exon13:c.T801C:p.G267G,ENSG00000145687:ENST00000509053:exon13:c.T771C:p.G257G,ENSG00000145687:ENST00000514493:exon13:c.T771C:p.G257G,ENSG00000145687:ENST00000515395:exon13:c.T795C:p.G265G,ENSG00000145687:ENST00000320672:exon14:c.T861C:p.G287G Score=631;Name=lod=491 NA 5q14.1 NA NA NA NA rs9596 0.42 0.42 0.433 0.453275 0.33 0.1756 0.3948 0.885 0.3241 0.33 0.17 0.4 0.87 0.3555 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 1.122703 NA NA 0.338953 0.791194 NA 0.493 NA 5.6422136 1096 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 1096 16 20043330 20043330 T C exonic GPR139 NA synonymous SNV GPR139:NM_001002911:exon2:c.A789G:p.V263V exonic ENSG00000180269 NA synonymous SNV ENSG00000180269:ENST00000570682:exon2:c.A789G:p.V263V Score=501;Name=lod=145 NA 16p12.3 NA NA NA NA rs2147865 0.52 0.52 0.523 0.517971 0.328 0.7827 0.4092 0.6029 0.4029 0.34 0.77 0.38 0.63 0.3942 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 0.507935 NA NA 0.303372 0.544712 NA 0.457 NA 5.6410946 1096 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 1096 7 134264286 134264286 C T exonic AKR1B15 NA synonymous SNV AKR1B15:NM_001080538:exon12:c.C1020T:p.F340F exonic ENSG00000227471 NA synonymous SNV ENSG00000227471:ENST00000423958:exon10:c.C936T:p.F312F,ENSG00000227471:ENST00000457545:exon12:c.C1020T:p.F340F NA NA 7q33 NA NA Name=5 NA rs6467538 0.33 0.33 0.329 0.335663 0.339 0.1438 0.3084 0.559 0.2474 0.34 0.15 0.3 0.57 0.3431 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386864 NA NA 0.34407 0.507493 NA 0.493 NA 5.6404966 1096 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$MYOD_01 NA NA NA rs3812547 0.75 0.75 0.778 0.750799 0.673 0.9454 0.5317 0.789 0.7342 0.68 0.92 0.62 0.78 0.6864 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.078636 NA NA 0.666977 0.770086 NA 0.601 NA 5.6402896 1096 19 42799049 42799049 C T exonic CIC NA synonymous SNV CIC:NM_015125:exon20:c.C4533T:p.I1511I exonic ENSG00000079432 NA synonymous SNV ENSG00000079432:ENST00000573349:exon5:c.C714T:p.I238I,ENSG00000079432:ENST00000160740:exon20:c.C4527T:p.I1509I,ENSG00000079432:ENST00000575354:exon20:c.C4533T:p.I1511I,ENSG00000079432:ENST00000572681:exon21:c.C7251T:p.I2417I Score=631;Name=lod=489 NA 19q13.2 NA NA NA NA rs1052023 0.18 0.18 0.17 0.119808 0.3907 NA 0.1945 0.0106 0.0593 0.4 NA 0.24 0.01 0.2587 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.607799 NA NA 0.377442 0.076941 NA 0.087 NA 5.6398246 1096 20 31671663 31671663 T C exonic BPIFB4 NA synonymous SNV BPIFB4:NM_182519:exon3:c.T660C:p.T220T exonic ENSG00000186191 NA synonymous SNV ENSG00000186191:ENST00000375483:exon3:c.T660C:p.T220T Score=464;Name=lod=103 NA 20q11.21 NA NA NA NA rs2424945 0.37 0.37 0.387 0.379193 0.333 0.1984 0.4035 0.6074 0.2873 0.34 0.22 0.41 0.57 0.3532 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.778593 NA NA 0.341415 0.568431 NA 0.326 NA 5.6390516 1096 13 114322289 114322289 A G exonic GRK1 NA synonymous SNV GRK1:NM_002929:exon1:c.A588G:p.L196L exonic ENSG00000185974 NA synonymous SNV ENSG00000185974:ENST00000335678:exon1:c.A588G:p.L196L Score=535;Name=lod=199 NA 13q34 Score=765;Name=V$MIF1_01 NA NA NA rs9796035 0.71 0.71 0.706 0.723642 0.6829 0.6597 0.6585 0.8601 0.6933 0.69 0.65 0.68 0.85 0.6908 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 -0.273205 NA NA 0.65444 0.822165 NA 0.688 NA 5.6385266 1096 1 204587918 204587918 C T exonic LRRN2 NA synonymous SNV LRRN2:NM_201630:exon2:c.G1203A:p.P401P,LRRN2:NM_006338:exon3:c.G1203A:p.P401P exonic ENSG00000170382 NA synonymous SNV ENSG00000170382:ENST00000367175:exon1:c.G1203A:p.P401P,ENSG00000170382:ENST00000367177:exon2:c.G1203A:p.P401P,ENSG00000170382:ENST00000367176:exon3:c.G1203A:p.P401P NA NA 1q32.1 NA NA NA NA rs35322898 0.0027 0.0027 NA 0.00259585 0.008 NA 0.0043 0.0008 0.001 0.01 NA NA NA 0.0068 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 0.016241 NA NA 0.013372 0.001362 NA 0.007 NA 5.6384946 1096 13 111298392 111298392 A G exonic CARS2 NA synonymous SNV CARS2:NM_024537:exon12:c.T1239C:p.D413D exonic ENSG00000134905 NA synonymous SNV ENSG00000134905:ENST00000257347:exon12:c.T1239C:p.D413D Score=412;Name=lod=63 NA 13q34 NA NA NA NA rs436462 0.43 0.43 0.409 0.474241 0.3082 0.4246 0.5346 0.6233 0.4519 0.3 0.4 0.52 0.61 0.3964 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.002102 NA NA 0.324884 0.58443 NA 0.362 NA 5.6371826 1096 1 20005822 20005822 C T exonic HTR6 NA synonymous SNV HTR6:NM_000871:exon3:c.C1284T:p.P428P exonic ENSG00000158748 NA synonymous SNV ENSG00000158748:ENST00000289753:exon3:c.C1284T:p.P428P NA NA 1p36.13 NA NA NA NA rs8192534 0.01 0.01 0.01 0.0105831 0.007 0.0159 0.0043 0.0008 0.0266 0.01 0.01 0.01 0.002 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 -0.75067 NA NA 0.008847 0.002933 NA 0.014 NA 5.6371196 1096 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 1096 16 66599890 66599890 G A exonic CKLF NA synonymous SNV CKLF:NM_016326:exon2:c.G180A:p.V60V,CKLF:NM_181640:exon3:c.G276A:p.V92V,CKLF:NM_181641:exon3:c.G339A:p.V113V,CKLF:NM_016951:exon4:c.G435A:p.V145V exonic ENSG00000217555 NA synonymous SNV ENSG00000217555:ENST00000362093:exon2:c.G180A:p.V60V,ENSG00000217555:ENST00000345436:exon3:c.G339A:p.V113V,ENSG00000217555:ENST00000351137:exon3:c.G276A:p.V92V,ENSG00000217555:ENST00000264001:exon4:c.G435A:p.V145V NA NA 16q21 NA NA NA NA rs2232729 0.01 0.01 0.004 0.00319489 0.0139 NA 0.0014 0.0008 NA 0.01 NA 0.0028 NA 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 -0.378171 NA NA 0.00907 0.001817 NA NA NA 5.6366966 1096 1 62330134 62330134 G A exonic INADL NA synonymous SNV INADL:NM_176877:exon20:c.G2664A:p.L888L exonic ENSG00000132849 NA synonymous SNV ENSG00000132849:ENST00000484937:exon8:c.G1041A:p.L347L,ENSG00000132849:ENST00000316485:exon20:c.G2664A:p.L888L,ENSG00000132849:ENST00000371158:exon20:c.G2664A:p.L888L NA NA 1p31.3 NA NA NA NA rs4915787 0.0046 0.0046 0.004 0.00299521 0.0119 NA NA 0.0008 0.002 0.01 NA NA 0.002 0.0082 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 0.63963 NA NA 0.010581 0.00227 NA NA NA 5.6359856 1096 16 56377748 56377748 A G exonic GNAO1 NA synonymous SNV GNAO1:NM_138736:exon8:c.A951G:p.K317K exonic ENSG00000087258 NA synonymous SNV ENSG00000087258:ENST00000262494:exon8:c.A951G:p.K317K Score=680;Name=lod=775 NA 16q12.2 NA NA NA NA rs1799917 0.34 0.34 0.356 0.409944 0.326 0.2242 0.2435 0.6286 0.5102 0.32 0.19 0.26 0.61 0.3568 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.437446 1.437446 NA 0.348488 0.570064 NA 0.428 NA 5.6353786 1096 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 1097 12 48919556 48919556 A G exonic OR8S1 NA nonsynonymous SNV OR8S1:NM_001005203:exon1:c.A142G:p.M48V exonic ENSG00000197376 NA nonsynonymous SNV ENSG00000197376:ENST00000310194:exon1:c.A142G:p.M48V NA NA 12q13.11 NA NA NA NA rs2731073 0.93 0.93 0.919 0.922324 0.8847 0.9673 0.9294 0.91 0.9264 0.89 0.97 0.94 0.92 0.9101 0.97 0.25 T 0.0 B 0.0 B 0.002 N 1.000 P -2.045 N 4.13 T -0.984 T 0.000 T 0.046 -2.828 0 1.7 0.231 -1.405 1.462 -2.827532 NA 1 0.903605 0.888334 NA 0.913 NA 5.6349284 1097 6 130761855 130761855 A T exonic TMEM200A NA synonymous SNV TMEM200A:NM_001258276:exon2:c.A288T:p.T96T,TMEM200A:NM_001258278:exon2:c.A288T:p.T96T,TMEM200A:NM_052913:exon2:c.A288T:p.T96T,TMEM200A:NM_001258277:exon3:c.A288T:p.T96T exonic ENSG00000164484 NA synonymous SNV ENSG00000164484:ENST00000392429:exon2:c.A288T:p.T96T,ENSG00000164484:ENST00000545622:exon2:c.A288T:p.T96T,ENSG00000164484:ENST00000296978:exon3:c.A288T:p.T96T NA NA 6q23.1 NA NA NA NA rs79097063 0.01 0.01 0.005 0.00439297 0.0159 NA 0.0014 NA 0.0051 0.02 NA NA NA 0.0062 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 0.524453 NA NA 0.009651 0.001589 NA NA NA 5.6349156 1097 17 2585113 2585113 C T UTR3 PAFAH1B1 NM_000430:c.*17C>T NA NA UTR3 ENSG00000007168 ENST00000397195:c.*17C>T,ENST00000451360:c.*17C>T,ENST00000574468:c.*17C>T NA NA Score=858;Name=lod=4077 NA 17p13.3 NA NA NA NA rs6628 0.15 0.15 0.134 0.138578 0.2366 0.0427 0.2089 0.1142 0.1196 0.23 0.05 0.18 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 0.993436 NA NA 0.249884 0.124149 NA 0.167 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Lissencephaly_1|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000020300.3|RCV000078809.1;CLNDSDB=GeneReviews:MedGen:OMIM|.;CLNDSDBID=NBK5189:C1843916:607432|. 5.6348494 1097 19 50412309 50412309 C G exonic NUP62 NA synonymous SNV NUP62:NM_001193357:exon2:c.G756C:p.G252G,NUP62:NM_012346:exon2:c.G756C:p.G252G,NUP62:NM_153718:exon2:c.G756C:p.G252G,NUP62:NM_016553:exon3:c.G756C:p.G252G,NUP62:NM_153719:exon3:c.G756C:p.G252G exonic ENSG00000213024 NA synonymous SNV ENSG00000213024:ENST00000413454:exon2:c.G756C:p.G252G,ENSG00000213024:ENST00000422090:exon2:c.G756C:p.G252G,ENSG00000213024:ENST00000596217:exon2:c.G756C:p.G252G,ENSG00000213024:ENST00000352066:exon3:c.G756C:p.G252G,ENSG00000213024:ENST00000597029:exon3:c.G756C:p.G252G,ENSG00000213024:ENST00000597723:exon3:c.G756C:p.G252G NA NA 19q13.33 NA NA NA NA rs1290749 0.05 0.05 0.053 0.0523163 0.0089 0.1181 0.0231 0.0719 0.0235 0.01 0.11 0.01 0.09 0.0195 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 0.112287 NA NA 0.003837 0.05379 NA 0.022 NA 5.6344296 1097 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$COUP_01 NA NA NA rs3821985 0.4 0.4 0.429 0.444888 0.3141 0.3958 0.3112 0.6944 0.3875 0.32 0.33 0.3 0.69 0.3766 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072834 NA NA 0.341744 0.63238 NA 0.42 NA 5.6342226 1097 15 88576185 88576185 G C exonic NTRK3 NA synonymous SNV NTRK3:NM_001243101:exon13:c.C1464G:p.A488A,NTRK3:NM_001007156:exon14:c.C1488G:p.A496A,NTRK3:NM_001012338:exon14:c.C1488G:p.A496A,NTRK3:NM_002530:exon14:c.C1488G:p.A496A exonic ENSG00000140538 NA synonymous SNV ENSG00000140538:ENST00000557856:exon11:c.C1464G:p.A488A,ENSG00000140538:ENST00000558676:exon11:c.C1464G:p.A488A,ENSG00000140538:ENST00000357724:exon12:c.C1464G:p.A488A,ENSG00000140538:ENST00000540489:exon12:c.C1488G:p.A496A,ENSG00000140538:ENST00000542733:exon12:c.C1194G:p.A398A,ENSG00000140538:ENST00000317501:exon13:c.C1488G:p.A496A,ENSG00000140538:ENST00000355254:exon13:c.C1488G:p.A496A,ENSG00000140538:ENST00000360948:exon13:c.C1488G:p.A496A,ENSG00000140538:ENST00000394480:exon14:c.C1488G:p.A496A NA NA 15q25.3 NA NA Name=14 NA rs2229910 0.32 0.32 0.307 0.35004 0.3171 0.2083 0.3746 0.4395 0.3916 0.31 0.2 0.4 0.42 0.361 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819401 NA NA 0.355083 0.404816 ID=COSM147967;OCCURENCE=1(stomach) 0.239 NA 5.6334836 1097 10 46967672 46967672 C T exonic SYT15 NA synonymous SNV SYT15:NM_031912:exon4:c.G405A:p.P135P,SYT15:NM_181519:exon4:c.G405A:p.P135P exonic ENSG00000204176 NA synonymous SNV ENSG00000204176:ENST00000512997:exon2:c.G57A:p.P19P,ENSG00000204176:ENST00000374323:exon3:c.G564A:p.P188P,ENSG00000204176:ENST00000374321:exon4:c.G405A:p.P135P,ENSG00000204176:ENST00000374325:exon4:c.G405A:p.P135P,ENSG00000204176:ENST00000503753:exon4:c.G405A:p.P135P NA NA 10q11.22 Score=818;Name=V$OLF1_01 NA NA NA rs2152530 0.54 0.54 NA NA NA NA NA NA NA 0.53 0.51 0.52 0.59 0.5135 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856622 NA NA 0.520005 0.589024 NA 0.543 NA 5.6331616 1097 1 247241850 247241850 G C ncRNA_intronic ZNF670-ZNF695 NA NA NA intronic ENSG00000135747 NA NA NA NA NA 1q44 NA Name=PU.1,CCNT2,Sin3Ak-20,GABP,HMGN3,BCLAF1_(M33-P5B11),ETS1,STAT1,Ini1 Name=49 NA rs41305955 0.26 0.26 0.276 0.306909 0.2147 0.128 0.1787 0.5764 0.3129 0.21 0.13 0.18 0.57 0.2503 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.375205 NA NA 0.236163 0.521108 NA 0.362 NA 5.6321703 1097 6 36298264 36298264 A G exonic C6orf222 NA synonymous SNV C6orf222:NM_001010903:exon2:c.T204C:p.A68A exonic ENSG00000189325 NA synonymous SNV ENSG00000189325:ENST00000437635:exon2:c.T204C:p.A68A NA NA 6p21.31 NA NA NA NA rs149607586 0.01 0.01 0.007 0.00519169 0.0089 0.002 0.0058 0.0015 0.0092 0.01 0.0035 0.01 0.002 0.0106 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 0.724254 NA NA 0.015 0.004539 ID=COSM51011;OCCURENCE=1(breast) NA NA 5.6321666 1097 19 46443886 46443886 C A exonic NOVA2 NA synonymous SNV NOVA2:NM_002516:exon4:c.G714T:p.L238L exonic ENSG00000104967 NA synonymous SNV ENSG00000104967:ENST00000263257:exon4:c.G714T:p.L238L Score=661;Name=lod=649 NA 19q13.32 Score=815;Name=V$AP4_01 NA NA NA rs1047061 0.68 0.68 0.672 0.669529 0.66 0.7937 0.5259 0.6195 0.7209 0.66 0.8 0.53 0.67 0.6993 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 0.253509 NA NA 0.675565 0.642338 NA 0.188 NA 5.6318016 1097 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 1097 3 4712413 4712413 G A exonic ITPR1 NA synonymous SNV ITPR1:NM_001168272:exon19:c.G1962A:p.K654K,ITPR1:NM_002222:exon19:c.G1962A:p.K654K,ITPR1:NM_001099952:exon20:c.G2007A:p.K669K exonic ENSG00000150995 NA synonymous SNV ENSG00000150995:ENST00000443694:exon17:c.G1962A:p.K654K,ENSG00000150995:ENST00000302640:exon19:c.G1962A:p.K654K,ENSG00000150995:ENST00000456211:exon19:c.G1962A:p.K654K,ENSG00000150995:ENST00000354582:exon20:c.G2007A:p.K669K,ENSG00000150995:ENST00000357086:exon20:c.G2007A:p.K669K,ENSG00000150995:ENST00000423119:exon20:c.G2007A:p.K669K Score=508;Name=lod=155 NA 3p26.1 NA NA NA NA rs2306875 0.6 0.6 0.592 0.614018 0.6799 0.3651 0.6542 0.711 0.6431 0.69 0.36 0.68 0.68 0.6832 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 2.160252 2.160252 NA 0.672161 0.700163 NA 0.565 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117299.2;CLNDSDB=.;CLNDSDBID=. 5.6314056 1097 11 89420607 89420607 G A splicing FOLH1B NM_153696:exon9:c.608+1G>A NA NA ncRNA_splicing ENSG00000134612 ENST00000531315:exon14:c.1530+1G>A,ENST00000529567:exon13:c.1424+1G>A,ENST00000532352:exon13:c.1421+1G>A,ENST00000526379:exon11:c.1047+1G>A,ENST00000525540:exon9:c.1134+1G>A NA NA Score=389;Name=lod=51 NA 11q14.3 NA NA NA NA rs61905507 0.03 0.03 0.032 0.0313498 0.0656 NA 0.0432 0.0023 0.0593 0.06 NA 0.06 0.002 0.0605 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 1.697322 1.697322 NA 0.075948 0.013857 NA 0.022 NA 5.6312853 1097 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 1097 3 194349178 194349178 C T exonic TMEM44 NA synonymous SNV TMEM44:NM_001011655:exon2:c.G198A:p.A66A,TMEM44:NM_001166305:exon2:c.G198A:p.A66A,TMEM44:NM_001166306:exon2:c.G198A:p.A66A,TMEM44:NM_138399:exon2:c.G198A:p.A66A exonic ENSG00000145014 NA synonymous SNV ENSG00000145014:ENST00000273580:exon2:c.G198A:p.A66A,ENSG00000145014:ENST00000347147:exon2:c.G198A:p.A66A,ENSG00000145014:ENST00000381975:exon2:c.G198A:p.A66A,ENSG00000145014:ENST00000392432:exon2:c.G198A:p.A66A,ENSG00000145014:ENST00000430601:exon2:c.G198A:p.A66A,ENSG00000145014:ENST00000473092:exon2:c.G198A:p.A66A NA NA 3q29 Score=834;Name=V$AHRARNT_01 NA NA NA rs1563970 0.35 0.35 0.335 0.345847 0.325 0.4385 0.304 0.2489 0.4325 0.33 0.46 0.35 0.26 0.3713 0.46 NA NA 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 0.339302 0.252156 ID=COSM1421798,COSM1421799;OCCURENCE=1(large_intestine) 0.312 NA 5.6310646 1097 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 1097 20 62378364 62378364 C T exonic ZBTB46 NA synonymous SNV ZBTB46:NM_025224:exon5:c.G1689A:p.A563A exonic ENSG00000130584 NA synonymous SNV ENSG00000130584:ENST00000395104:exon4:c.G1689A:p.A563A,ENSG00000130584:ENST00000245663:exon5:c.G1689A:p.A563A,ENSG00000130584:ENST00000302995:exon5:c.G1689A:p.A563A Score=422;Name=lod=69 NA 20q13.33 NA NA NA NA rs12625387 0.31 0.31 0.3 0.269569 0.3499 0.3452 0.3804 0.1392 0.2065 0.35 0.34 0.38 0.16 0.347 0.38 NA NA 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 0.33904 0.169623 ID=COSM1566142;OCCURENCE=1(large_intestine) 0.428 NA 5.6307266 1097 20 333871 333871 G A exonic NRSN2 NA synonymous SNV NRSN2:NM_024958:exon4:c.G207A:p.G69G exonic ENSG00000125841 NA synonymous SNV ENSG00000125841:ENST00000382291:exon4:c.G207A:p.G69G,ENSG00000125841:ENST00000382285:exon5:c.G207A:p.G69G NA NA 20p13 NA NA NA NA rs34012633 0.01 0.01 0.003 0.00379393 0.0119 NA 0.0058 0.0008 0.002 0.01 NA 0.01 NA 0.0076 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 -0.984576 NA NA 0.016744 0.002724 ID=COSM1410927;OCCURENCE=1(large_intestine) NA NA 5.6304226 1097 4 13545792 13545792 G T exonic NKX3-2 NA synonymous SNV NKX3-2:NM_001189:exon1:c.C247A:p.R83R exonic ENSG00000109705 NA synonymous SNV ENSG00000109705:ENST00000382438:exon1:c.C247A:p.R83R Score=521;Name=lod=174 NA 4p15.33 NA Name=ZNF263,HA-E2F1 NA NA rs9684692 0.68 0.68 0.667 0.644569 0.668 0.9673 0.6499 0.3631 0.6646 0.67 0.97 0.65 0.4 0.686 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 0.127619 NA NA 0.682353 0.445141 NA 0.464 NA 5.6303136 1097 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 1097 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 1097 1 161202605 161202605 G A exonic NR1I3 NA synonymous SNV NR1I3:NM_001077470:exon4:c.C453T:p.P151P,NR1I3:NM_001077472:exon4:c.C453T:p.P151P,NR1I3:NM_001077473:exon4:c.C453T:p.P151P,NR1I3:NM_001077475:exon4:c.C453T:p.P151P,NR1I3:NM_001077476:exon4:c.C453T:p.P151P,NR1I3:NM_001077477:exon4:c.C453T:p.P151P,NR1I3:NM_001077479:exon4:c.C453T:p.P151P,NR1I3:NM_001077469:exon5:c.C540T:p.P180P,NR1I3:NM_001077471:exon5:c.C540T:p.P180P,NR1I3:NM_001077474:exon5:c.C540T:p.P180P,NR1I3:NM_001077478:exon5:c.C540T:p.P180P,NR1I3:NM_001077480:exon5:c.C540T:p.P180P,NR1I3:NM_001077481:exon5:c.C540T:p.P180P,NR1I3:NM_001077482:exon5:c.C540T:p.P180P,NR1I3:NM_005122:exon5:c.C540T:p.P180P exonic ENSG00000143257 NA synonymous SNV ENSG00000143257:ENST00000367979:exon4:c.C540T:p.P180P,ENSG00000143257:ENST00000367981:exon4:c.C453T:p.P151P,ENSG00000143257:ENST00000412844:exon4:c.C453T:p.P151P,ENSG00000143257:ENST00000437437:exon4:c.C453T:p.P151P,ENSG00000143257:ENST00000504010:exon4:c.C453T:p.P151P,ENSG00000143257:ENST00000506018:exon4:c.C453T:p.P151P,ENSG00000143257:ENST00000506209:exon4:c.C453T:p.P151P,ENSG00000143257:ENST00000508740:exon4:c.C453T:p.P151P,ENSG00000143257:ENST00000511676:exon4:c.C453T:p.P151P,ENSG00000143257:ENST00000512372:exon4:c.C453T:p.P151P,ENSG00000143257:ENST00000367980:exon5:c.C540T:p.P180P,ENSG00000143257:ENST00000367982:exon5:c.C540T:p.P180P,ENSG00000143257:ENST00000367983:exon5:c.C540T:p.P180P,ENSG00000143257:ENST00000367984:exon5:c.C540T:p.P180P,ENSG00000143257:ENST00000367985:exon5:c.C540T:p.P180P,ENSG00000143257:ENST00000428574:exon5:c.C540T:p.P180P,ENSG00000143257:ENST00000442691:exon5:c.C540T:p.P180P,ENSG00000143257:ENST00000505005:exon5:c.C540T:p.P180P,ENSG00000143257:ENST00000515452:exon5:c.C540T:p.P180P,ENSG00000143257:ENST00000515621:exon5:c.C315T:p.P105P Score=397;Name=lod=55 NA 1q23.3 NA NA NA NA rs2307424 0.34 0.34 0.344 0.336262 0.3489 0.5188 0.3256 0.1067 0.453 0.34 0.55 0.31 0.13 0.3534 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.394051 NA NA 0.334651 0.143441 NA 0.37 NA 5.6297156 1097 7 21778449 21778449 C T exonic DNAH11 NA synonymous SNV DNAH11:NM_001277115:exon47:c.C7776T:p.H2592H exonic ENSG00000105877 NA synonymous SNV ENSG00000105877:ENST00000605912:exon2:c.C336T:p.H112H,ENSG00000105877:ENST00000409508:exon47:c.C7776T:p.H2592H,ENSG00000105877:ENST00000328843:exon48:c.C7797T:p.H2599H Score=432;Name=lod=76 NA 7p15.3 Score=768;Name=V$PAX5_02 NA NA NA rs1109806 0.56 0.56 0.554 0.539537 0.7048 0.244 0.5677 0.5923 0.5828 0.7 0.23 0.6 0.68 0.6409 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 -0.397697 NA NA 0.691949 0.611213 ID=COSM1568466;OCCURENCE=1(large_intestine) 0.58 NA 5.6290176 1097 19 8321946 8321946 T C exonic CERS4 NA synonymous SNV CERS4:NM_024552:exon9:c.T726C:p.S242S exonic ENSG00000090661 NA synonymous SNV ENSG00000090661:ENST00000559450:exon8:c.T726C:p.S242S,ENSG00000090661:ENST00000251363:exon9:c.T726C:p.S242S,ENSG00000090661:ENST00000558331:exon9:c.T573C:p.S191S,ENSG00000090661:ENST00000559336:exon9:c.T726C:p.S242S NA NA 19p13.2 NA Name=CTCF NA NA rs36247 0.39 0.39 0.388 0.4375 0.328 0.4504 0.3862 0.4259 0.589 0.32 0.48 0.35 0.45 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 -0.579926 NA NA 0.321977 0.426464 NA 0.471 NA 5.6286896 1097 11 68192690 68192690 G A exonic LRP5 NA synonymous SNV LRP5:NM_002335:exon15:c.G3357A:p.V1119V exonic ENSG00000162337 NA synonymous SNV ENSG00000162337:ENST00000294304:exon15:c.G3357A:p.V1119V Score=461;Name=lod=100 NA 11q13.2 Score=717;Name=V$NRSF_01 NA NA NA rs556442 0.59 0.59 0.55 0.579273 0.6899 0.7232 0.6758 0.1619 0.8129 0.72 0.72 0.62 0.2 0.6755 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.818906 NA NA 0.673032 0.240455 NA 0.457 NA 5.6282346 1097 5 6748659 6748659 T C exonic PAPD7 NA synonymous SNV PAPD7:NM_001171806:exon2:c.T252C:p.A84A,PAPD7:NM_001171805:exon8:c.T792C:p.A264A,PAPD7:NM_006999:exon8:c.T792C:p.A264A exonic ENSG00000112941 NA synonymous SNV ENSG00000112941:ENST00000230859:exon8:c.T792C:p.A264A Score=378;Name=lod=46 NA 5p15.31 Score=924;Name=V$AP1FJ_Q2 NA NA NA rs274681 0.59 0.59 0.56 0.564696 0.6759 0.5754 0.5836 0.4047 0.6421 0.67 0.59 0.64 0.43 0.6585 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 0.95043 NA NA 0.704186 0.442578 ID=COSM149790;OCCURENCE=1(stomach),1(large_intestine) 0.761 NA 5.6280806 1097 1 52991638 52991638 C T exonic ZCCHC11 NA synonymous SNV ZCCHC11:NM_001009881:exon2:c.G315A:p.P105P,ZCCHC11:NM_015269:exon2:c.G315A:p.P105P exonic ENSG00000134744 NA synonymous SNV ENSG00000134744:ENST00000257177:exon2:c.G315A:p.P105P,ENSG00000134744:ENST00000355809:exon2:c.G315A:p.P105P,ENSG00000134744:ENST00000371544:exon2:c.G315A:p.P105P,ENSG00000134744:ENST00000473856:exon2:c.G315A:p.P105P,ENSG00000134744:ENST00000528642:exon2:c.G315A:p.P105P NA NA 1p32.3 Score=726;Name=V$PAX4_04 NA NA NA rs12123698 0.33 0.33 0.293 0.285942 0.3698 0.4306 0.5072 0.0151 0.2597 0.37 0.44 0.47 0.02 0.3356 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.652686 NA NA 0.334186 0.076714 NA 0.319 NA 5.6270806 1097 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 1097 7 18687542 18687542 A T exonic HDAC9 NA synonymous SNV HDAC9:NM_001204147:exon8:c.A930T:p.P310P,HDAC9:NM_001204145:exon9:c.A1029T:p.P343P,HDAC9:NM_001204146:exon9:c.A1038T:p.P346P,HDAC9:NM_001204148:exon9:c.A1077T:p.P359P,HDAC9:NM_058176:exon9:c.A1161T:p.P387P,HDAC9:NM_178425:exon9:c.A1170T:p.P390P,HDAC9:NM_014707:exon10:c.A1161T:p.P387P,HDAC9:NM_178423:exon10:c.A1161T:p.P387P,HDAC9:NM_001204144:exon11:c.A1155T:p.P385P exonic ENSG00000048052 NA synonymous SNV ENSG00000048052:ENST00000401921:exon8:c.A1038T:p.P346P,ENSG00000048052:ENST00000406072:exon8:c.A1122T:p.P374P,ENSG00000048052:ENST00000524023:exon8:c.A930T:p.P310P,ENSG00000048052:ENST00000428307:exon9:c.A1029T:p.P343P,ENSG00000048052:ENST00000432645:exon9:c.A1161T:p.P387P,ENSG00000048052:ENST00000441542:exon9:c.A1170T:p.P390P,ENSG00000048052:ENST00000456174:exon9:c.A1077T:p.P359P,ENSG00000048052:ENST00000405010:exon10:c.A1161T:p.P387P,ENSG00000048052:ENST00000406451:exon10:c.A1161T:p.P387P,ENSG00000048052:ENST00000417496:exon11:c.A1155T:p.P385P NA NA 7p21.1 NA NA NA NA rs35614472 0.01 0.01 0.004 0.00379393 0.0139 NA 0.0043 0.0015 NA 0.01 NA 0.01 0.0041 0.0125 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 -0.169498 NA NA 0.013687 0.001717 NA 0.007 NA 5.6265796 1097 12 79611374 79611374 C T exonic SYT1 NA synonymous SNV SYT1:NM_001135806:exon3:c.C75T:p.N25N,SYT1:NM_005639:exon4:c.C75T:p.N25N,SYT1:NM_001135805:exon5:c.C75T:p.N25N exonic ENSG00000067715 NA synonymous SNV ENSG00000067715:ENST00000446242:exon3:c.C75T:p.N25N,ENSG00000067715:ENST00000457153:exon3:c.C75T:p.N25N,ENSG00000067715:ENST00000549671:exon3:c.C75T:p.N25N,ENSG00000067715:ENST00000552624:exon3:c.C75T:p.N25N,ENSG00000067715:ENST00000552744:exon3:c.C75T:p.N25N,ENSG00000067715:ENST00000261205:exon4:c.C75T:p.N25N,ENSG00000067715:ENST00000547046:exon4:c.C75T:p.N25N,ENSG00000067715:ENST00000552074:exon4:c.C75T:p.N25N,ENSG00000067715:ENST00000393240:exon5:c.C75T:p.N25N,ENSG00000067715:ENST00000551304:exon5:c.C75T:p.N25N Score=525;Name=lod=181 NA 12q21.2 NA Name=YY1_(C-20) NA NA rs2037743 0.66 0.66 0.659 0.625799 0.6869 0.4603 0.7233 0.7814 0.454 0.68 0.48 0.7 0.78 0.6681 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 -0.519602 NA NA 0.685116 0.778484 NA 0.58 NA 5.6265506 1097 X 26157792 26157792 C T exonic MAGEB18 NA synonymous SNV MAGEB18:NM_173699:exon2:c.C690T:p.A230A exonic ENSG00000176774 NA synonymous SNV ENSG00000176774:ENST00000325250:exon2:c.C690T:p.A230A NA NA Xp21.3 Score=820;Name=V$OCT1_01 NA NA NA rs5944318 0.69 0.69 0.67091 NA NA NA NA NA NA 0.43 0.92 0.69 0.83 0.6185 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 -1.227888 NA NA 0.421671 0.793112 NA 0.522 NA 5.6264956 1097 4 1374695 1374695 C A exonic UVSSA NA synonymous SNV UVSSA:NM_020894:exon12:c.C1780A:p.R594R exonic ENSG00000163945 NA synonymous SNV ENSG00000163945:ENST00000511563:exon5:c.C433A:p.R145R,ENSG00000163945:ENST00000512728:exon5:c.C433A:p.R145R,ENSG00000163945:ENST00000389851:exon12:c.C1780A:p.R594R,ENSG00000163945:ENST00000507531:exon12:c.C1780A:p.R594R,ENSG00000163945:ENST00000511216:exon12:c.C1780A:p.R594R Score=503;Name=lod=147 NA 4p16.3 Score=743;Name=V$STAT5A_02 NA NA NA rs28614045 0.71 0.71 0.684 0.70028 0.665 0.7004 0.7781 0.702 0.6789 0.67 0.71 0.75 0.71 0.694 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.709017 NA NA 0.681512 0.709582 ID=COSM447387;OCCURENCE=1(breast) 0.667 NA 5.6261546 1097 8 11706513 11706513 C G intronic CTSB NA NA NA intronic ENSG00000164733 NA NA NA NA NA 8p23.1 NA Name=Pol2,HMGN3 Name=57 NA rs28592650 0.1 0.1 0.1 0.0930511 0.1282 NA 0.0663 0.149 0.0961 0.12 NA 0.07 0.18 0.1078 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134151 NA NA 0.137939 0.155697 NA 0.145 NA 5.626061 1097 6 79656570 79656570 G A exonic PHIP NA synonymous SNV PHIP:NM_017934:exon37:c.C4228T:p.L1410L exonic ENSG00000146247 NA synonymous SNV ENSG00000146247:ENST00000275034:exon37:c.C4228T:p.L1410L Score=515;Name=lod=165 NA 6q14.1 NA NA NA NA rs2275290 0.33 0.33 0.312 0.278155 0.3688 0.1855 0.317 0.3359 0.1748 0.37 0.22 0.34 0.37 0.3237 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0523 NA NA 0.34814 0.340899 NA 0.391 NA 5.6260266 1097 16 31230463 31230463 C T exonic TRIM72 NA synonymous SNV TRIM72:NM_001008274:exon3:c.C438T:p.R146R exonic ENSG00000177238 NA synonymous SNV ENSG00000177238:ENST00000322122:exon3:c.C438T:p.R146R Score=436;Name=lod=79 NA 16p11.2 Score=806;Name=V$PAX4_01 NA NA NA rs7186832 0.65 0.65 0.653 0.569489 0.6839 0.745 0.5893 0.4463 0.4233 0.69 0.78 0.63 0.45 0.6553 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 1.286986 1.286986 NA 0.70214 0.470414 NA 0.594 NA 5.6253266 1097 17 73836162 73836162 C G exonic UNC13D NA synonymous SNV UNC13D:NM_199242:exon11:c.G888C:p.P296P exonic ENSG00000092929 NA synonymous SNV ENSG00000092929:ENST00000207549:exon11:c.G888C:p.P296P,ENSG00000092929:ENST00000412096:exon11:c.G888C:p.P296P,ENSG00000092929:ENST00000592386:exon11:c.G867C:p.P289P Score=449;Name=lod=89 NA 17q25.1 NA NA NA NA rs7223416 0.49 0.49 0.553 0.490216 0.339 0.4246 0.2954 0.8608 0.3507 0.32 0.49 0.33 0.85 0.3706 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 1.020842 NA NA 0.332054 0.780754 NA 0.486 NA 5.6250126 1098 11 11976628 11976628 G A exonic USP47 NA synonymous SNV USP47:NM_017944:exon26:c.G3606A:p.Q1202Q exonic ENSG00000170242 NA synonymous SNV ENSG00000170242:ENST00000339865:exon26:c.G3606A:p.Q1202Q,ENSG00000170242:ENST00000527733:exon27:c.G3810A:p.Q1270Q,ENSG00000170242:ENST00000539466:exon27:c.G216A:p.Q72Q,ENSG00000170242:ENST00000399455:exon28:c.G3870A:p.Q1290Q Score=705;Name=lod=975 NA 11p15.3 Score=829;Name=V$OCT1_02 NA NA NA rs7933089 0.69 0.69 0.686 0.714257 0.6879 0.4861 0.8429 0.8654 0.681 0.68 0.49 0.81 0.87 0.685 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.649254 NA NA 0.669315 0.855234 NA 0.674 NA 5.6244516 1098 2 220101974 220101974 A G exonic GLB1L NA synonymous SNV GLB1L:NM_024506:exon17:c.T1785C:p.P595P exonic ENSG00000163521 NA synonymous SNV ENSG00000163521:ENST00000409640:exon14:c.T1515C:p.P505P,ENSG00000163521:ENST00000356283:exon15:c.T1515C:p.P505P,ENSG00000163521:ENST00000295759:exon17:c.T1785C:p.P595P,ENSG00000163521:ENST00000392089:exon17:c.T1785C:p.P595P NA NA 2q35 NA NA NA NA rs61733623 0.01 0.01 0.005 0.00439297 0.0139 NA 0.0058 0.0023 0.001 0.01 NA 0.0028 0.0041 0.0128 0.016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525562 NA NA 0.015698 0.004312 NA 0.007 NA 5.6242686 1098 16 3533577 3533577 C G exonic NAA60 NA synonymous SNV NAA60:NM_001083600:exon5:c.C552G:p.G184G,NAA60:NM_024845:exon5:c.C552G:p.G184G,NAA60:NM_001083601:exon6:c.C552G:p.G184G exonic ENSG00000122390 NA synonymous SNV ENSG00000122390:ENST00000360862:exon4:c.C357G:p.G119G,ENSG00000122390:ENST00000572584:exon4:c.C552G:p.G184G,ENSG00000122390:ENST00000573580:exon4:c.C357G:p.G119G,ENSG00000122390:ENST00000414063:exon5:c.C552G:p.G184G,ENSG00000122390:ENST00000424546:exon5:c.C573G:p.G191G,ENSG00000122390:ENST00000575076:exon5:c.C552G:p.G184G,ENSG00000122390:ENST00000407558:exon6:c.C552G:p.G184G Score=478;Name=lod=117 NA 16p13.3 Score=923;Name=V$ZIC3_01 NA NA NA rs1137454 0.71 0.71 0.694 0.715455 0.67 0.7411 0.6888 0.77 0.681 0.66 0.75 0.69 0.75 0.6935 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 0.128477 NA NA 0.679036 0.765625 NA 0.63 NA 5.6241306 1098 14 81610583 81610583 G C exonic TSHR NA nonsynonymous SNV TSHR:NM_000369:exon10:c.G2181C:p.E727D exonic ENSG00000165409 NA nonsynonymous SNV ENSG00000165409:ENST00000298171:exon10:c.G2181C:p.E727D,ENSG00000165409:ENST00000541158:exon11:c.G2181C:p.E727D NA NA 14q31.1 NA NA NA NA rs1991517 0.89 0.89 0.894 0.896765 0.8956 0.8472 0.8631 0.9425 0.911 0.9 0.85 0.89 0.93 0.9004 0.94 0.67 T 0.0 B 0.0 B 0.025 N 1.000 P . . -0.92 T -0.975 T 0.000 T 0.02 -3.126 0.001 2.08 0.675 -0.125 2.877 -3.126236 NA 1 0.913372 0.942805 NA 0.928 NA 5.6239614 1098 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 1098 5 96117579 96117579 G A intronic ERAP1 NA NA NA intronic ENSG00000164307 NA NA NA NA NA 5q15 NA Name=FOXA1_(SC-101058),FOXA1_(C-20),FOSL2,SP1,FOXA2_(SC-6554) 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 1098 4 184932523 184932523 C T exonic STOX2 NA synonymous SNV STOX2:NM_020225:exon3:c.C2532T:p.L844L exonic ENSG00000173320 NA synonymous SNV ENSG00000173320:ENST00000308497:exon3:c.C2532T:p.L844L,ENSG00000173320:ENST00000438269:exon3:c.C2532T:p.L844L NA NA 4q35.1 NA NA NA NA rs17365239 0.01 0.01 0.005 0.00738818 0.0149 NA 0.0187 0.0008 0.0082 0.01 NA 0.03 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 -0.654172 NA NA 0.016534 0.003294 NA 0.007 NA 5.6233326 1098 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 1098 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 1098 9 139620695 139620695 C T ncRNA_exonic SNHG7 NA NA NA ncRNA_exonic ENSG00000233016 NA NA NA NA NA 9q34.3 NA Name=Pol2-4H8 Name=91 NA rs2275161 0.32 0.32 0.316 0.325879 0.3449 0.1825 0.3804 0.3873 0.3323 0.35 0.16 0.38 0.39 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 0.190098 NA NA 0.356281 0.406963 NA 0.457 NA 5.6221856 1098 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 1098 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=Rad21,GATA3_(SC-268),CTCF_(SC-5916),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 1098 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 1098 8 33230203 33230203 A T exonic FUT10 NA synonymous SNV FUT10:NM_032664:exon5:c.T1332A:p.I444I exonic ENSG00000172728 NA synonymous SNV ENSG00000172728:ENST00000518672:exon4:c.T1248A:p.I416I,ENSG00000172728:ENST00000327671:exon5:c.T1332A:p.I444I,ENSG00000172728:ENST00000524021:exon5:c.T1248A:p.I416I NA NA 8p12 NA NA NA NA rs2292747 0.06 0.06 0.053 0.0626997 0.007 0.1071 0.0115 0.0991 0.0613 0.01 0.11 0.01 0.11 0.0298 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 0.905401 NA NA 0.00907 0.10236 NA 0.058 NA 5.6207966 1098 17 78919558 78919558 C T exonic RPTOR NA synonymous SNV RPTOR:NM_001163034:exon22:c.C2643T:p.A881A,RPTOR:NM_020761:exon26:c.C3117T:p.A1039A exonic ENSG00000141564 NA synonymous SNV ENSG00000141564:ENST00000544334:exon22:c.C2643T:p.A881A,ENSG00000141564:ENST00000306801:exon26:c.C3117T:p.A1039A Score=397;Name=lod=55 NA 17q25.3 NA NA NA NA rs1567962 0.38 0.38 0.399 0.374601 0.334 0.4544 0.3285 0.3918 0.3436 0.34 0.47 0.32 0.37 0.3595 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.17603 NA NA 0.352674 0.380844 NA 0.442 NA 5.6204926 1098 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 1098 6 83075914 83075914 G A exonic TPBG NA synonymous SNV TPBG:NM_001166392:exon2:c.G1236A:p.T412T,TPBG:NM_006670:exon3:c.G1236A:p.T412T exonic ENSG00000146242 NA synonymous SNV ENSG00000146242:ENST00000369750:exon2:c.G1236A:p.T412T,ENSG00000146242:ENST00000543496:exon2:c.G1236A:p.T412T,ENSG00000146242:ENST00000535040:exon3:c.G1236A:p.T412T Score=722;Name=lod=1144 NA 6q14.1 NA NA Name=6 NA rs700494 0.67 0.67 0.651 0.685703 0.6889 0.5774 0.7161 0.733 0.7086 0.69 0.53 0.72 0.74 0.6794 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359272 NA NA 0.678256 0.729914 NA 0.688 NA 5.6201106 1098 11 57193653 57193653 A G UTR5 SLC43A3 NM_014096:c.-8T>C,NM_199329:c.-8T>C,NM_017611:c.-8T>C NA NA UTR5 ENSG00000134802 ENST00000395123:c.-8T>C,ENST00000352187:c.-8T>C,ENST00000395124:c.-8T>C,ENST00000529554:c.-8T>C,ENST00000533524:c.-8T>C,ENST00000530005:c.-8T>C,ENST00000525474:c.-8T>C,ENST00000529112:c.-8T>C,ENST00000528187:c.-8T>C,ENST00000529494:c.-8T>C,ENST00000533245:c.-8T>C,ENST00000533235:c.-8T>C,ENST00000524863:c.-8T>C,ENST00000532795:c.-8T>C,ENST00000533051:c.-8T>C,ENST00000529896:c.-8T>C,ENST00000526621:c.-8T>C,ENST00000530316:c.-8T>C,ENST00000529748:c.-8T>C,ENST00000532278:c.-8T>C NA NA NA NA 11q12.1 NA Name=YY1,Max,c-Myc,Pol2-4H8,E2F6,E2F6_(H-50),USF-1 Name=101 NA rs12422015 0.18 0.18 0.201 0.204473 0.2326 0.0942 0.1542 0.2504 0.2628 0.24 0.1 0.15 0.22 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 0.818207 NA NA 0.254539 0.261699 NA 0.283 NA 5.6192944 1098 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 1098 2 68882138 68882138 G T exonic PROKR1 NA synonymous SNV PROKR1:NM_138964:exon2:c.G612T:p.T204T exonic ENSG00000169618 NA synonymous SNV ENSG00000169618:ENST00000394342:exon2:c.G612T:p.T204T,ENSG00000169618:ENST00000303786:exon3:c.G612T:p.T204T NA NA 2p13.3 NA NA NA NA rs34234285 0.01 0.01 0.009 0.00539137 0.0149 NA 0.013 NA 0.0031 0.02 NA 0.01 NA 0.0137 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 -0.694538 NA NA 0.019884 0.004312 NA NA NA 5.6181826 1098 19 45179631 45179631 C T exonic CEACAM19 NA synonymous SNV CEACAM19:NM_001127893:exon3:c.C513T:p.A171A,CEACAM19:NM_020219:exon3:c.C513T:p.A171A exonic ENSG00000186567 NA synonymous SNV ENSG00000186567:ENST00000358777:exon3:c.C513T:p.A171A,ENSG00000186567:ENST00000403660:exon3:c.C513T:p.A171A NA NA 19q13.31 NA NA NA NA rs76075198 0.01 0.01 0.002 0.00698882 0.0129 NA 0.0187 0.0008 0.0082 0.01 0.0017 0.04 NA 0.0127 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 2.020595 2.020595 NA 0.023372 0.004766 NA 0.007 NA 5.6176946 1098 17 27401176 27401176 G C exonic TIAF1 NA synonymous SNV TIAF1:NM_004740:exon1:c.C42G:p.L14L exonic ENSG00000221995 NA synonymous SNV ENSG00000221995:ENST00000359450:exon1:c.C42G:p.L14L,ENSG00000221995:ENST00000408971:exon8:c.C42G:p.L14L NA NA 17q11.2 NA NA NA NA rs1049848 0.01 0.01 0.012 0.00479233 0.0209 0.001 NA NA 0.002 0.03 NA 0.0028 NA 0.0124 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 0.387017 NA NA 0.015698 0.004085 NA NA NA 5.6176686 1098 16 87723838 87723838 T C exonic JPH3 NA synonymous SNV JPH3:NM_020655:exon4:c.T1872C:p.H624H exonic ENSG00000154118 NA synonymous SNV ENSG00000154118:ENST00000284262:exon4:c.T1872C:p.H624H Score=451;Name=lod=91 NA 16q24.2 NA NA NA NA rs34767155 0.4 0.4 0.399 0.442093 0.3161 0.2659 0.428 0.7148 0.3947 0.33 0.25 0.39 0.7 0.4383 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 0.541705 NA NA 0.29466 0.620285 ID=COSM435892;OCCURENCE=1(breast) 0.384 NA 5.6176066 1098 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 1098 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 1098 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 1098 10 18254606 18254606 C A exonic SLC39A12 NA synonymous SNV SLC39A12:NM_001145195:exon4:c.C738A:p.T246T,SLC39A12:NM_152725:exon4:c.C738A:p.T246T exonic ENSG00000148482 NA synonymous SNV ENSG00000148482:ENST00000539911:exon3:c.C336A:p.T112T,ENSG00000148482:ENST00000377369:exon4:c.C738A:p.T246T,ENSG00000148482:ENST00000377371:exon4:c.C738A:p.T246T,ENSG00000148482:ENST00000377374:exon4:c.C738A:p.T246T NA NA 10p12.33 Score=916;Name=V$SPZ1_01 NA NA NA rs691513 0.37 0.37 0.36 0.33147 0.3608 0.3889 0.4006 0.2443 0.3108 0.36 0.43 0.4 0.28 0.3487 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448439 NA NA 0.341279 0.25783 NA 0.377 NA 5.6158876 1098 5 137717213 137717213 G A exonic KDM3B NA synonymous SNV KDM3B:NM_016604:exon6:c.G714A:p.E238E exonic ENSG00000120733 NA synonymous SNV ENSG00000120733:ENST00000510866:exon5:c.G522A:p.E174E,ENSG00000120733:ENST00000314358:exon6:c.G714A:p.E238E Score=550;Name=lod=230 NA 5q31.2 NA NA NA NA rs10073922 0.29 0.29 0.262 0.290735 0.337 0.2708 0.4179 0.1067 0.4223 0.34 0.31 0.4 0.11 0.3497 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911945 NA NA 0.364186 0.162279 ID=COSM149918;OCCURENCE=1(stomach) 0.21 NA 5.6157806 1098 7 100861452 100861452 T C UTR5 ZNHIT1 NM_006349:c.-25T>C NA NA UTR5 ENSG00000106400 ENST00000305105:c.-25T>C NA NA NA NA 7q22.1 NA Name=Pol2,Pol2(phosphoS2),ELF1_(SC-631),HEY1,TAF1,NFKB,GABP,Pol2-4H8,SIX5,Mxi1_(bHLH),Max,YY1_(C-20),Nrf1,IRF1,SRF,JunD,ELK4,TBP,YY1,ZBTB7A_(SC-34508) Name=148 NA rs11769624 0.22 0.22 0.215 0.240016 0.2505 0.1746 0.2161 0.233 0.3231 0.24 0.17 0.25 0.25 0.2276 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.3676 1.3676 NA 0.24 0.231276 ID=COSN168162;OCCURENCE=1(large_intestine) 0.348 NA 5.6152334 1099 19 8196508 8196508 G C exonic FBN3 NA synonymous SNV FBN3:NM_032447:exon14:c.C1920G:p.S640S exonic ENSG00000142449 NA synonymous SNV ENSG00000142449:ENST00000270509:exon14:c.C1920G:p.S640S,ENSG00000142449:ENST00000600128:exon15:c.C1920G:p.S640S,ENSG00000142449:ENST00000601739:exon15:c.C1920G:p.S640S Score=503;Name=lod=147 NA 19p13.2 NA NA NA NA rs12974280 0.2 0.2 0.217 0.18151 0.3618 0.0486 0.2233 0.1059 0.2055 0.35 0.05 0.24 0.11 0.2968 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.993083 NA NA 0.39314 0.14503 NA 0.196 NA 5.6149266 1099 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 1099 2 88396174 88396174 T C exonic SMYD1 NA synonymous SNV SMYD1:NM_198274:exon6:c.T759C:p.I253I exonic ENSG00000115593 NA synonymous SNV ENSG00000115593:ENST00000444564:exon5:c.T720C:p.I240I,ENSG00000115593:ENST00000419482:exon6:c.T759C:p.I253I Score=445;Name=lod=86 NA 2p11.2 NA NA NA NA rs2919881 0.31 0.31 0.304 0.313898 0.3559 0.1627 0.2579 0.4244 0.317 0.35 0.17 0.3 0.43 0.3315 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.758303 NA NA 0.365 0.406037 NA 0.413 NA 5.6142666 1099 10 91098877 91098877 G A exonic IFIT3 NA synonymous SNV IFIT3:NM_001031683:exon2:c.G465A:p.A155A,IFIT3:NM_001549:exon2:c.G465A:p.A155A exonic ENSG00000119917 NA synonymous SNV ENSG00000119917:ENST00000371811:exon2:c.G465A:p.A155A,ENSG00000119917:ENST00000371818:exon2:c.G465A:p.A155A NA NA 10q23.31 NA NA NA NA rs34847428 0.01 0.01 0.009 0.0101837 0.0189 0.001 0.0101 NA 0.0245 0.02 NA 0.01 NA 0.0158 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 0.624745 NA NA 0.017791 0.003404 ID=COSM1349703;OCCURENCE=1(large_intestine) 0.007 NA 5.6141756 1099 1 232941153 232941153 C T exonic MAP10 NA synonymous SNV MAP10:NM_019090:exon1:c.C384T:p.F128F exonic ENSG00000212916 NA synonymous SNV ENSG00000212916:ENST00000418460:exon1:c.C384T:p.F128F NA NA 1q42.2 NA Name=ELF1_(SC-631),HEY1,ETS1,Pol2-4H8,TAF1,NFKB,TAF7_(SQ-8),HA-E2F1,CHD2_(N-1250),Pol2,BRCA1_(C-1863),YY1,PU.1,ZBTB7A_(SC-34508),TBP,Sin3Ak-20,YY1_(C-20),ZBTB33 Name=130 NA rs12409898 0.55 0.55 0.483 0.527356 0.7097 0.6607 0.5879 0.084 0.7587 0.71 0.64 0.65 0.11 0.6537 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.339416 1.339416 NA 0.689186 0.190476 NA 0.558 NA 5.6140806 1099 19 45810035 45810035 A G exonic CKM NA synonymous SNV CKM:NM_001824:exon8:c.T1119C:p.I373I exonic ENSG00000104879 NA synonymous SNV ENSG00000104879:ENST00000221476:exon8:c.T1119C:p.I373I Score=695;Name=lod=890 NA 19q13.32 NA NA Name=31 NA rs4884 0.58 0.58 0.61 0.595248 0.6909 0.2679 0.4265 0.826 0.6421 0.7 0.25 0.51 0.82 0.6475 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 1.491583 1.491583 NA 0.714186 0.821834 NA 0.688 NA 5.6140806 1099 16 84024200 84024200 G A exonic NECAB2 NA synonymous SNV NECAB2:NM_019065:exon6:c.G561A:p.A187A exonic ENSG00000103154 NA synonymous SNV ENSG00000103154:ENST00000565691:exon4:c.G312A:p.A104A,ENSG00000103154:ENST00000566836:exon4:c.G234A:p.A78A,ENSG00000103154:ENST00000305202:exon6:c.G561A:p.A187A NA NA 16q23.3 NA NA NA NA rs143735873 0.01 0.01 0.016 0.0109824 0.0199 NA 0.0159 0.0136 0.0061 0.02 NA 0.01 0.02 0.0159 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 0.647348 NA NA 0.01686 0.018636 NA 0.043 NA 5.6140066 1099 9 139906359 139906359 G A exonic ABCA2 NA synonymous SNV ABCA2:NM_001606:exon35:c.C5472T:p.H1824H,ABCA2:NM_212533:exon35:c.C5562T:p.H1854H exonic ENSG00000107331 NA synonymous SNV ENSG00000107331:ENST00000371605:exon34:c.C5469T:p.H1823H,ENSG00000107331:ENST00000459850:exon34:c.C5559T:p.H1853H,ENSG00000107331:ENST00000265662:exon35:c.C5472T:p.H1824H,ENSG00000107331:ENST00000341511:exon35:c.C5472T:p.H1824H Score=631;Name=lod=491 NA 9q34.3 Score=902;Name=V$E47_02 NA NA NA rs2271862 0.68 0.68 0.7 0.6873 0.67 0.8175 0.5403 0.6377 0.7423 0.66 0.82 0.56 0.61 0.685 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 -0.890198 NA NA 0.697943 0.638128 NA 0.312 NA 5.6137236 1099 1 1222963 1222963 C T exonic SCNN1D NA synonymous SNV SCNN1D:NM_001130413:exon10:c.C1386T:p.P462P exonic ENSG00000162572 NA synonymous SNV ENSG00000162572:ENST00000400928:exon6:c.C894T:p.P298P,ENSG00000162572:ENST00000325425:exon7:c.C1092T:p.P364P,ENSG00000162572:ENST00000338555:exon7:c.C894T:p.P298P,ENSG00000162572:ENST00000379116:exon10:c.C1386T:p.P462P NA NA 1p36.33 NA NA NA NA rs74735644 0.01 0.01 0.01 0.00898562 0.0199 NA 0.0072 0.0015 0.0184 0.02 NA 0.01 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 1.564816 1.564816 NA 0.019083 0.003417 NA 0.007 NA 5.6136836 1099 14 67671485 67671485 A T exonic FAM71D NA synonymous SNV FAM71D:NM_173526:exon5:c.A591T:p.T197T exonic ENSG00000172717 NA synonymous SNV ENSG00000172717:ENST00000311864:exon5:c.A591T:p.T197T,ENSG00000172717:ENST00000534174:exon5:c.A591T:p.T197T NA NA 14q23.3 NA NA NA NA rs55981040 NA NA NA 0.0135783 0.0348 NA 0.0403 0.0015 0.0031 NA NA NA NA 0.0183 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816985 NA NA NA NA NA NA NA 5.6135666 1099 11 124747837 124747837 G A exonic ROBO3 NA synonymous SNV ROBO3:NM_022370:exon21:c.G2991A:p.A997A exonic ENSG00000154134 NA synonymous SNV ENSG00000154134:ENST00000538940:exon20:c.G2925A:p.A975A,ENSG00000154134:ENST00000397801:exon21:c.G2991A:p.A997A Score=401;Name=lod=57 NA 11q24.2 NA NA Name=18 NA rs7933204 0.62 0.62 0.644 0.631989 0.6918 0.4276 0.4957 0.8623 0.5665 0.67 0.47 0.5 0.83 0.6785 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 1.128333 NA NA 0.68284 0.830275 NA 0.841 NA 5.6135266 1099 19 9057408 9057408 A G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.T30038C:p.L10013P exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.T30038C:p.L10013P NA NA 19p13.2 NA NA NA NA rs1423051 0.91 0.91 0.93 0.912939 0.8946 0.8542 0.9323 0.9947 0.8681 0.88 0.88 0.91 0.97 0.9046 0.98 0 D 0.0 B 0.001 B . . . . . . 2.25 T -1.039 T 0.000 T 0.023 -0.171 3.167 -1.88 -0.777 -0.002 7.239 -0.170892 NA 0.05 0.920677 0.983996 NA 0.978 NA 5.6134564 1099 16 1394507 1394507 A C exonic BAIAP3 NA nonsynonymous SNV BAIAP3:NM_001199096:exon17:c.A1532C:p.D511A,BAIAP3:NM_001199097:exon18:c.A1640C:p.D547A,BAIAP3:NM_001199098:exon18:c.A1571C:p.D524A,BAIAP3:NM_001199099:exon18:c.A1556C:p.D519A,BAIAP3:NM_003933:exon18:c.A1745C:p.D582A exonic ENSG00000007516 NA nonsynonymous SNV ENSG00000007516:ENST00000421665:exon17:c.A1532C:p.D511A,ENSG00000007516:ENST00000324385:exon18:c.A1745C:p.D582A,ENSG00000007516:ENST00000397488:exon18:c.A1691C:p.D564A,ENSG00000007516:ENST00000397489:exon18:c.A1691C:p.D564A,ENSG00000007516:ENST00000426824:exon18:c.A1640C:p.D547A,ENSG00000007516:ENST00000562208:exon18:c.A1571C:p.D524A,ENSG00000007516:ENST00000568887:exon18:c.A1556C:p.D519A NA NA 16p13.3 NA NA NA NA rs1132356 0.95 0.95 0.953 0.951078 0.9016 1 0.938 0.975 0.9284 0.89 1 0.93 0.98 0.92 1 0.57 T 0.0 B 0.0 B 0.736 N 1.000 P -0.345 N -0.47 T -0.978 T 0.000 T 0.042 -1.844 0.009 3.1 0.868 0.765 6.123 -1.843676 NA 0.59 0.898372 0.965211 NA 0.971 NA 5.6133614 1099 4 167658622 167658622 A G exonic SPOCK3 NA synonymous SNV SPOCK3:NM_001251967:exon7:c.T843C:p.D281D,SPOCK3:NM_001204355:exon8:c.T849C:p.D283D,SPOCK3:NM_001204353:exon9:c.T777C:p.D259D,SPOCK3:NM_001204354:exon9:c.T861C:p.D287D,SPOCK3:NM_001204356:exon9:c.T1008C:p.D336D,SPOCK3:NM_001040159:exon10:c.T1128C:p.D376D,SPOCK3:NM_001204352:exon11:c.T984C:p.D328D,SPOCK3:NM_016950:exon11:c.T1137C:p.D379D exonic ENSG00000196104 NA synonymous SNV ENSG00000196104:ENST00000541637:exon6:c.T843C:p.D281D,ENSG00000196104:ENST00000512681:exon7:c.T843C:p.D281D,ENSG00000196104:ENST00000534949:exon7:c.T849C:p.D283D,ENSG00000196104:ENST00000535728:exon8:c.T741C:p.D247D,ENSG00000196104:ENST00000510741:exon9:c.T1008C:p.D336D,ENSG00000196104:ENST00000511269:exon9:c.T1128C:p.D376D,ENSG00000196104:ENST00000541354:exon9:c.T777C:p.D259D,ENSG00000196104:ENST00000357545:exon10:c.T1128C:p.D376D,ENSG00000196104:ENST00000504953:exon10:c.T1128C:p.D376D,ENSG00000196104:ENST00000357154:exon11:c.T1137C:p.D379D,ENSG00000196104:ENST00000421836:exon11:c.T984C:p.D328D,ENSG00000196104:ENST00000502330:exon11:c.T1137C:p.D379D,ENSG00000196104:ENST00000506886:exon11:c.T1137C:p.D379D,ENSG00000196104:ENST00000511531:exon11:c.T1137C:p.D379D NA NA 4q32.3 NA NA NA NA rs34665704 0.01 0.01 0.005 0.00499201 0.0179 NA 0.0014 0.003 0.002 0.02 NA 0.0028 0.0041 0.0131 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 -1.376909 NA NA 0.022326 0.003177 NA NA NA 5.6133406 1099 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 1099 11 67072382 67072382 C T exonic SSH3 NA synonymous SNV SSH3:NM_017857:exon3:c.C243T:p.F81F exonic ENSG00000172830 NA synonymous SNV ENSG00000172830:ENST00000308127:exon3:c.C243T:p.F81F,ENSG00000172830:ENST00000308298:exon3:c.C243T:p.F81F,ENSG00000172830:ENST00000376757:exon3:c.C243T:p.F81F NA NA 11q13.2 NA NA NA NA rs61731786 0.06 0.06 0.031 0.0660942 0.004 0.0298 0.2651 0.0855 NA 0.004 0.02 0.2 0.08 0.0459 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.023232 NA NA 0.004307 0.06412 NA 0.051 NA 5.6124596 1099 1 44401384 44401384 A G exonic ARTN NA nonsynonymous SNV ARTN:NM_001136215:exon2:c.A56G:p.Q19R,ARTN:NM_057090:exon3:c.A56G:p.Q19R,ARTN:NM_057091:exon3:c.A56G:p.Q19R exonic ENSG00000117407 NA nonsynonymous SNV ENSG00000117407:ENST00000372354:exon1:c.A56G:p.Q19R,ENSG00000117407:ENST00000472435:exon2:c.A56G:p.Q19R,ENSG00000117407:ENST00000474592:exon2:c.A56G:p.Q19R,ENSG00000117407:ENST00000477048:exon2:c.A56G:p.Q19R,ENSG00000117407:ENST00000479128:exon2:c.A56G:p.Q19R,ENSG00000117407:ENST00000498139:exon2:c.A56G:p.Q19R,ENSG00000117407:ENST00000372359:exon3:c.A56G:p.Q19R,ENSG00000117407:ENST00000414809:exon3:c.A56G:p.Q19R,ENSG00000117407:ENST00000471394:exon3:c.A56G:p.Q19R,ENSG00000117407:ENST00000491846:exon3:c.A56G:p.Q19R NA NA 1p34.1 NA NA Name=18 NA rs2242637 0.83 0.83 0.807 0.836861 0.9115 0.8254 0.8732 0.7368 0.8814 0.91 0.77 0.87 0.76 0.8848 0.92 0.98 T 0.0 B 0.001 B . . 1.000 P -0.345 N 0.92 T -0.963 T 0.000 T 0.223 0.525 6.844 1.91 0.221 0.130 5.801 0.525045 NA 0.86 0.924651 0.769632 NA 0.833 NA 5.6123824 1099 17 64685078 64685078 G A exonic PRKCA NA synonymous SNV PRKCA:NM_002737:exon8:c.G831A:p.L277L exonic ENSG00000154229 NA synonymous SNV ENSG00000154229:ENST00000413366:exon8:c.G831A:p.L277L,ENSG00000154229:ENST00000578063:exon8:c.G831A:p.L277L Score=517;Name=lod=169 NA 17q24.2 NA NA NA NA rs2227857 0.24 0.24 0.216 0.229633 0.3658 0.1081 0.3473 0.0908 0.319 0.36 0.12 0.39 0.08 0.3227 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.114987 NA NA 0.365814 0.135951 NA 0.246 NA 5.6123526 1099 11 34991727 34991727 T C exonic PDHX NA synonymous SNV PDHX:NM_001135024:exon7:c.T813C:p.V271V,PDHX:NM_003477:exon7:c.T858C:p.V286V exonic ENSG00000110435 NA synonymous SNV ENSG00000110435:ENST00000227868:exon7:c.T858C:p.V286V,ENSG00000110435:ENST00000448838:exon7:c.T813C:p.V271V Score=651;Name=lod=592 NA 11p13 NA NA Name=3 NA rs497582 0.61 0.61 0.592 0.570487 0.7058 0.7421 0.5562 0.3169 0.6074 0.71 0.72 0.56 0.35 0.6438 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.365149 1.365149 NA 0.704863 0.387148 NA 0.609 NA 5.6122036 1099 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 1099 3 42610374 42610374 A G exonic SEC22C NA synonymous SNV SEC22C:NM_001201572:exon2:c.T165C:p.G55G,SEC22C:NM_001201584:exon2:c.T165C:p.G55G,SEC22C:NM_004206:exon2:c.T165C:p.G55G,SEC22C:NM_032970:exon2:c.T165C:p.G55G exonic ENSG00000093183 NA synonymous SNV ENSG00000093183:ENST00000264454:exon2:c.T165C:p.G55G,ENSG00000093183:ENST00000273156:exon2:c.T165C:p.G55G,ENSG00000093183:ENST00000383750:exon2:c.T165C:p.G55G,ENSG00000093183:ENST00000417572:exon2:c.T165C:p.G55G,ENSG00000093183:ENST00000423701:exon2:c.T165C:p.G55G,ENSG00000093183:ENST00000445388:exon2:c.T165C:p.G55G,ENSG00000093183:ENST00000449617:exon2:c.T165C:p.G55G,ENSG00000093183:ENST00000454141:exon2:c.T165C:p.G55G,ENSG00000093183:ENST00000456515:exon2:c.T165C:p.G55G,ENSG00000093183:ENST00000416880:exon3:c.T165C:p.G55G,ENSG00000093183:ENST00000450981:exon3:c.T165C:p.G55G,ENSG00000093183:ENST00000420163:exon4:c.T165C:p.G55G Score=321;Name=lod=27 NA 3p22.1 NA NA NA NA rs2271186 0.49 0.49 0.514 0.535942 0.337 0.5843 0.2968 0.7958 0.5092 0.35 0.57 0.3 0.78 0.3926 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 0.666498 NA NA 0.325349 0.696096 NA 0.493 NA 5.6117176 1099 19 55658088 55658088 G A intronic TNNT1 NA NA NA UTR5 ENSG00000105048 ENST00000587465:c.-5436C>T,ENST00000585321:c.-5436C>T NA NA NA NA 19q13.42 NA Name=Egr-1 NA NA rs11669534 0.09 0.09 0.08 0.0642971 0.1779 0.002 0.1182 0.0106 0.046 0.18 NA 0.12 0.03 0.2346 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.898599 1.898599 NA 0.143044 0.026706 NA 0.065 CLINSIG=untested|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=not|single;CLNACC=RCV000024558.1|RCV000080083.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.6111227 1099 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 1099 2 220286142 220286142 G A exonic DES NA synonymous SNV DES:NM_001927:exon6:c.G1104A:p.A368A exonic ENSG00000175084 NA synonymous SNV ENSG00000175084:ENST00000373960:exon6:c.G1104A:p.A368A NA NA 2q35 NA NA NA NA rs1058284 0.34 0.34 0.342 0.333666 0.3648 0.1835 0.3429 0.4607 0.2781 0.36 0.2 0.38 0.45 0.3362 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278927 NA NA 0.355233 0.441443 NA 0.268 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000037225.3;CLNDSDB=.;CLNDSDBID=. 5.6104336 1099 17 59485555 59485555 C T exonic TBX2 NA synonymous SNV TBX2:NM_005994:exon7:c.C1827T:p.S609S exonic ENSG00000121068 NA synonymous SNV ENSG00000121068:ENST00000240328:exon7:c.C1827T:p.S609S Score=635;Name=lod=509 NA 17q23.2 Score=802;Name=V$SRF_C NA NA NA rs1057987 0.48 0.48 0.484 0.424321 0.7276 0.369 0.4236 0.1997 0.4734 0.73 0.4 0.43 0.24 0.6044 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 0.71064 NA NA 0.724511 0.288217 NA 0.558 NA 5.6101556 1099 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 1099 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 1099 6 89888744 89888744 C T exonic GABRR1 NA synonymous SNV GABRR1:NM_001256703:exon9:c.G1134A:p.A378A,GABRR1:NM_002042:exon10:c.G1185A:p.A395A,GABRR1:NM_001256704:exon11:c.G924A:p.A308A,GABRR1:NM_001267582:exon12:c.G924A:p.A308A exonic ENSG00000146276 NA synonymous SNV ENSG00000146276:ENST00000435811:exon9:c.G1134A:p.A378A,ENSG00000146276:ENST00000454853:exon10:c.G1185A:p.A395A,ENSG00000146276:ENST00000369451:exon12:c.G924A:p.A308A Score=493;Name=lod=135 NA 6q15 NA NA NA NA rs1796743 0.46 0.46 0.455 0.45607 0.34 0.631 0.4265 0.4977 0.3599 0.34 0.62 0.38 0.51 0.3871 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.538324 NA NA 0.33 0.471857 NA 0.42 NA 5.6095666 1099 19 2078409 2078409 A G exonic MOB3A NA synonymous SNV MOB3A:NM_130807:exon3:c.T151C:p.L51L exonic ENSG00000172081 NA synonymous SNV ENSG00000172081:ENST00000592280:exon1:c.T151C:p.L51L,ENSG00000172081:ENST00000591638:exon2:c.T151C:p.L51L,ENSG00000172081:ENST00000357066:exon3:c.T151C:p.L51L,ENSG00000172081:ENST00000589902:exon3:c.T151C:p.L51L,ENSG00000172081:ENST00000591236:exon3:c.T151C:p.L51L,ENSG00000172081:ENST00000591326:exon3:c.T151C:p.L51L Score=437;Name=lod=80 NA 19p13.3 NA NA NA NA rs2074893 0.38 0.38 0.379 0.407748 0.3618 0.1964 0.2579 0.6702 0.4243 0.34 0.23 0.3 0.68 0.3496 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103448 NA NA 0.346047 0.637313 NA 0.391 NA 5.6092196 1099 17 16342813 16342813 T C ncRNA_intronic C17orf76-AS1 NA NA NA ncRNA_exonic ENSG00000175061 NA NA NA NA NA 17p11.2 NA Name=Pol2,Pol2-4H8 Name=39 NA rs4072454 0.32 0.32 0.291 0.273562 0.3569 0.2232 0.3343 0.2625 0.2117 0.35 0.25 0.38 0.29 0.3275 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.09864 NA NA 0.373179 0.283105 NA 0.304 NA 5.6090876 1099 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=ZNF263,Egr-1,TBP,ZBTB7A_(SC-34508),Sin3Ak-20,Mxi1_(bHLH),YY1_(C-20),TCF4,ETS1,KAP1,HEY1,GATA-1,NFKB,TAF1,GABP,Pol2-4H8,p300,Pol2(phosphoS2),Pol2,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 1099 15 91424574 91424574 G C exonic FURIN NA synonymous SNV FURIN:NM_002569:exon16:c.G1851C:p.G617G exonic ENSG00000140564 NA synonymous SNV ENSG00000140564:ENST00000268171:exon16:c.G1851C:p.G617G Score=393;Name=lod=53 NA 15q26.1 Score=841;Name=V$PPARG_03 NA NA NA rs6226 0.7 0.7 0.719 0.721845 0.6958 0.5357 0.6556 0.9735 0.6472 0.7 0.51 0.64 0.97 0.681 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.806793 NA NA 0.681289 0.925842 NA 0.877 NA 5.6085776 1099 20 13695680 13695680 C T exonic ESF1 NA synonymous SNV ESF1:NM_001276380:exon14:c.G2397A:p.R799R,ESF1:NM_016649:exon14:c.G2397A:p.R799R exonic ENSG00000089048 NA synonymous SNV ENSG00000089048:ENST00000202816:exon14:c.G2397A:p.R799R Score=374;Name=lod=44 NA 20p12.1 NA NA NA NA rs6110019 0.27 0.27 0.266 0.241214 0.3777 0.2143 0.2911 0.1362 0.2352 0.37 0.25 0.31 0.12 0.31 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.211576 NA NA 0.370465 0.15842 NA 0.297 NA 5.6085016 1099 19 610243 610243 C G intronic HCN2 NA NA NA intronic ENSG00000099822 NA NA NA NA NA 19p13.3 NA Name=ERalpha_a Name=26 NA rs34104611 0.1 0.1 0.088 0.127596 0.1233 0.0109 0.2032 0.1551 0.1616 0.12 0.01 0.17 0.12 0.1309 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.151522 NA NA 0.137326 0.143214 NA 0.123 NA 5.608474 1099 1 157062696 157062696 G T exonic ETV3L NA synonymous SNV ETV3L:NM_001004341:exon5:c.C831A:p.L277L exonic ENSG00000253831 NA synonymous SNV ENSG00000253831:ENST00000454449:exon5:c.C831A:p.L277L NA NA 1q23.1 NA NA Name=35 NA rs1176537 0.26 0.26 0.264 0.223842 0.3728 0.2381 0.2637 0.0908 0.2076 0.38 0.24 0.31 0.07 0.31 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018724 NA NA 0.375698 0.139128 ID=COSM1162576;OCCURENCE=1(pancreas),1(prostate) 0.312 NA 5.6081686 1099 2 220416942 220416942 G C intronic OBSL1 NA NA NA intronic ENSG00000124006 NA NA NA NA NA 2q35 Score=942;Name=V$PAX4_03 Name=Pol2,CTCF,Pol2-4H8 Name=6 NA rs34490902 0.43 0.43 0.377 0.38758 0.4702 0.379 0.5231 0.3812 0.2239 0.48 0.4 0.47 0.35 0.4668 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.907516 2.907516 NA 0.455059 0.392283 NA 0.413 NA 5.607941 1099 1 223178954 223178954 G A exonic DISP1 NA synonymous SNV DISP1:NM_032890:exon10:c.G4215A:p.T1405T exonic ENSG00000154309 NA synonymous SNV ENSG00000154309:ENST00000284476:exon8:c.G4215A:p.T1405T NA NA 1q41 NA NA NA NA rs61740997 0.01 0.01 0.005 0.00579073 0.0219 NA 0.0086 NA 0.001 0.02 NA 0.01 NA 0.0141 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 0.145522 NA NA 0.022791 0.004312 NA 0.007 NA 5.6078756 1099 2 73493651 73493651 G A exonic FBXO41 NA synonymous SNV FBXO41:NM_001080410:exon2:c.C1065T:p.S355S exonic ENSG00000163013 NA synonymous SNV ENSG00000163013:ENST00000295133:exon3:c.C1248T:p.S416S,ENSG00000163013:ENST00000520530:exon3:c.C1065T:p.S355S,ENSG00000163013:ENST00000521871:exon3:c.C1065T:p.S355S NA NA 2p13.2 NA NA NA NA rs372629043 NA NA 0.008 0.0061901 0.0169 NA 0.0058 NA 0.0102 NA NA NA NA 0.0228 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 0.678857 NA NA 0.019886 0.004625 NA 0.007 NA 5.6070806 1099 16 84035514 84035514 G A exonic NECAB2 NA synonymous SNV NECAB2:NM_019065:exon12:c.G1125A:p.L375L exonic ENSG00000103154 NA synonymous SNV ENSG00000103154:ENST00000565691:exon10:c.G876A:p.L292L,ENSG00000103154:ENST00000305202:exon12:c.G1125A:p.L375L NA NA 16q23.3 NA NA NA NA rs2271299 0.03 0.03 0.035 0.0349441 0.0189 0.1101 0.0173 NA 0.0337 0.02 0.09 0.02 NA 0.0257 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 -0.874785 NA NA 0.015349 0.005682 NA 0.051 NA 5.6067176 1099 9 131038401 131038401 T A upstream GOLGA2,SWI5 NA NA NA intronic ENSG00000175854 NA NA NA NA NA 9q34.11 NA Name=IRF3,RFX5_(N-494),GABP,ELF1_(SC-631),USF2,Pol2,USF-1,USF1_(SC-8983),TCF12,ELK4,CEBPB,BRCA1_(C-1863),PU.1,Max,c-Myc,SP1,Nrf1,IRF1,Mxi1_(bHLH),PAX5-C20 Name=148 NA rs16930333 0.16 0.16 0.146 0.169329 0.0646 0.247 0.147 0.2148 0.1513 0.06 0.26 0.12 0.22 0.113 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.003172 NA NA 0.049772 0.167712 NA 0.109 NA 5.6059613 1099 3 53326534 53326534 A G exonic DCP1A NA synonymous SNV DCP1A:NM_018403:exon7:c.T948C:p.P316P exonic ENSG00000162290 NA synonymous SNV ENSG00000162290:ENST00000606822:exon6:c.T834C:p.P278P,ENSG00000162290:ENST00000294241:exon7:c.T948C:p.P316P,ENSG00000162290:ENST00000607628:exon7:c.T948C:p.P316P NA NA 3p21.1 NA NA NA NA rs34366563 0.01 0.01 0.006 0.0071885 0.0268 NA 0.0086 0.0015 0.001 0.03 NA 0.01 NA 0.015 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 0.799798 NA NA 0.01899 0.003968 NA 0.007 NA 5.6058766 1099 9 71534678 71534678 A G intronic PIP5K1B NA NA NA intronic ENSG00000107242 NA NA NA NA NA 9q21.11 NA Name=PU.1 Name=7 NA rs11144305 0.07 0.07 0.068 0.0565096 0.1441 0.001 0.0692 0.0454 0.0297 0.13 0.0017 0.07 0.06 0.1051 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.826779 1.826779 NA 0.145567 0.055631 NA 0.138 NA 5.605233 1100 19 33349351 33349351 C T exonic SLC7A9 NA synonymous SNV SLC7A9:NM_001126335:exon9:c.G972A:p.A324A,SLC7A9:NM_001243036:exon9:c.G972A:p.A324A,SLC7A9:NM_014270:exon9:c.G972A:p.A324A exonic ENSG00000021488 NA synonymous SNV ENSG00000021488:ENST00000023064:exon9:c.G972A:p.A324A,ENSG00000021488:ENST00000587772:exon9:c.G972A:p.A324A,ENSG00000021488:ENST00000590341:exon9:c.G972A:p.A324A NA NA 19q13.11 NA NA NA NA rs61730903 0.01 0.01 0.011 0.00678914 0.0278 NA 0.0043 0.0015 0.001 0.03 NA NA 0.002 0.012 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 1.162064 NA NA 0.022093 0.004993 NA 0.014 NA 5.6047736 1100 9 95284982 95284982 T G exonic ECM2 NA nonsynonymous SNV ECM2:NM_001197295:exon2:c.A167C:p.Q56P,ECM2:NM_001197296:exon2:c.A167C:p.Q56P,ECM2:NM_001393:exon2:c.A167C:p.Q56P exonic ENSG00000106823 NA nonsynonymous SNV ENSG00000106823:ENST00000344604:exon2:c.A167C:p.Q56P,ENSG00000106823:ENST00000375540:exon2:c.A167C:p.Q56P,ENSG00000106823:ENST00000444490:exon2:c.A167C:p.Q56P,ENSG00000106823:ENST00000395534:exon3:c.A167C:p.Q56P NA NA 9q22.31 NA NA NA NA rs10120210 0.71 0.71 0.708 0.737819 0.5447 0.8056 0.6599 0.9455 0.6411 0.53 0.77 0.69 0.94 0.6214 0.94 0.34 T 0.001 B 0.0 B 0.046 N 1.000 P 0.425 N 1.5 T -1.064 T 0.000 T 0.081 -1.082 0.16 -0.673 -0.144 -0.469 3.366 -1.082313 NA 0.37 0.562558 0.885157 NA 0.688 NA 5.6046754 1100 6 154414563 154414563 A G exonic OPRM1 NA synonymous SNV OPRM1:NM_001008505:exon4:c.A1323G:p.G441G exonic ENSG00000112038 NA synonymous SNV ENSG00000112038:ENST00000229768:exon4:c.A1323G:p.G441G NA Name=Coronary heart disease 6q25.2 NA NA Name=5 NA rs675026 0.76 0.76 0.758 0.778754 0.675 0.9048 0.7349 0.7337 0.8476 0.68 0.9 0.74 0.73 0.719 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 0.215063 NA NA 0.668149 0.729337 ID=COSM1441734;OCCURENCE=1(large_intestine) 0.725 NA 5.6045176 1100 1 1225612 1225612 G A intronic SCNN1D NA NA NA intronic ENSG00000162572 NA NA NA NA NA 1p36.33 NA Name=SMC3_(ab9263),CTCF,Rad21 Name=88 NA rs1570866 0.18 0.18 0.16 0.177716 0.1113 0.1746 0.196 0.2504 0.138 0.11 0.17 0.25 0.24 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 -0.302421 NA NA 0.125117 0.221534 NA 0.043 NA 5.604483 1100 21 38997701 38997701 G A exonic KCNJ6 NA synonymous SNV KCNJ6:NM_002240:exon4:c.C1032T:p.D344D exonic ENSG00000157542 NA synonymous SNV ENSG00000157542:ENST00000288309:exon4:c.C1032T:p.D344D,ENSG00000157542:ENST00000400482:exon4:c.C1032T:p.D344D Score=455;Name=lod=94 NA 21q22.13 Score=802;Name=V$XBP1_01 NA NA NA rs702859 0.78 0.78 0.786 0.773962 0.666 0.8671 0.8127 0.8147 0.7065 0.65 0.87 0.83 0.84 0.7092 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.458813 NA NA 0.68707 0.805281 NA 0.79 NA 5.6043966 1100 10 48387980 48387980 G A exonic RBP3 NA synonymous SNV RBP3:NM_002900:exon1:c.C2898T:p.S966S exonic ENSG00000107618 NA synonymous SNV ENSG00000107618:ENST00000224600:exon1:c.C2898T:p.S966S NA NA 10q11.22 NA NA NA NA rs41284960 0.01 0.01 0.01 0.00559105 0.0229 NA NA 0.0015 0.0031 0.02 0.0017 NA 0.01 0.0151 0.025 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.032308 NA NA 0.024651 0.004539 NA NA NA 5.6040156 1100 3 155314034 155314034 A G exonic PLCH1 NA synonymous SNV PLCH1:NM_001130960:exon2:c.T177C:p.S59S,PLCH1:NM_001130961:exon2:c.T177C:p.S59S,PLCH1:NM_014996:exon2:c.T123C:p.S41S exonic ENSG00000114805 NA synonymous SNV ENSG00000114805:ENST00000334686:exon2:c.T123C:p.S41S,ENSG00000114805:ENST00000340059:exon2:c.T177C:p.S59S,ENSG00000114805:ENST00000414191:exon2:c.T123C:p.S41S,ENSG00000114805:ENST00000447496:exon2:c.T177C:p.S59S,ENSG00000114805:ENST00000494598:exon2:c.T177C:p.S59S,ENSG00000114805:ENST00000460012:exon3:c.T123C:p.S41S Score=510;Name=lod=157 NA 3q25.31 Score=805;Name=V$OCT1_04 NA NA NA rs359569 0.53 0.53 0.531 0.459465 0.7416 0.2768 0.5519 0.4002 0.3722 0.73 0.28 0.62 0.43 0.6051 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 1.094091 NA NA 0.716395 0.47163 ID=COSM1130306;OCCURENCE=1(prostate) 0.507 NA 5.6035716 1100 3 149459341 149459341 A G exonic COMMD2 NA synonymous SNV COMMD2:NM_016094:exon5:c.T567C:p.N189N exonic ENSG00000114744 NA synonymous SNV ENSG00000114744:ENST00000473414:exon5:c.T567C:p.N189N Score=485;Name=lod=125 NA 3q25.1 Score=859;Name=V$FOXO1_02 NA NA NA rs7633238 0.76 0.76 0.792 0.779752 0.673 0.8165 0.6037 0.9675 0.7229 0.68 0.79 0.61 0.97 0.7031 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.303784 1.303784 NA 0.687093 0.923059 NA 0.761 NA 5.6034736 1100 17 56344656 56344656 A G intronic LPO NA NA NA intronic ENSG00000167419 NA NA NA NA NA 17q22 NA Name=Pol2 Name=2 NA rs8178407 0.43 0.43 0.463 0.469449 0.3966 0.244 0.2867 0.8427 0.4018 0.39 0.23 0.3 0.82 NA 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020701 NA NA NA NA NA 0.464 NA 5.6034 1100 16 69354682 69354682 C T intronic VPS4A NA NA NA intronic ENSG00000132612 NA NA NA NA NA 16q22.1 Score=878;Name=V$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 1100 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 1100 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 1100 15 87217613 87217613 A G exonic AGBL1 NA nonsynonymous SNV AGBL1:NM_152336:exon22:c.A3029G:p.Q1010R exonic ENSG00000166748 NA nonsynonymous SNV ENSG00000166748:ENST00000389298:exon15:c.A2222G:p.Q741R,ENSG00000166748:ENST00000421325:exon21:c.A3029G:p.Q1010R,ENSG00000166748:ENST00000441037:exon22:c.A3029G:p.Q1010R NA NA 15q25.3 Score=866;Name=V$ZID_01 NA NA NA rs8028043 0.87 0.87 0.863 0.892173 0.9215 0.9167 0.8646 0.8275 0.9438 0.92 0.88 0.84 0.8 0.9016 0.92 0.57 T 0.0 B 0.0 B . . 1.000 P -0.55 N 3.03 T -1.059 T 0.000 T 0.021 -1.117 0.128 -0.039 -0.114 -0.002 8.950 -1.117232 NA 1 0.908273 0.850877 NA 0.594 NA 5.6019604 1100 17 73513619 73513619 C A intronic TSEN54 NA NA NA intronic ENSG00000182173 NA NA NA NA NA 17q25.1 NA Name=CTCF,Pbx3 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 1100 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 1100 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 1100 12 62926398 62926398 G A exonic MON2 NA synonymous SNV MON2:NM_015026:exon12:c.G1581A:p.S527S exonic ENSG00000061987 NA synonymous SNV ENSG00000061987:ENST00000280379:exon12:c.G1581A:p.S527S,ENSG00000061987:ENST00000393629:exon12:c.G1581A:p.S527S,ENSG00000061987:ENST00000393630:exon12:c.G1581A:p.S527S,ENSG00000061987:ENST00000393632:exon12:c.G1581A:p.S527S,ENSG00000061987:ENST00000546600:exon12:c.G1581A:p.S527S,ENSG00000061987:ENST00000552115:exon12:c.G1581A:p.S527S,ENSG00000061987:ENST00000552738:exon12:c.G1581A:p.S527S Score=414;Name=lod=64 NA 12q14.1 NA NA NA NA rs7957417 0.36 0.36 0.365 0.353235 0.3549 0.3423 0.3055 0.3828 0.3569 0.36 0.37 0.33 0.38 0.3464 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.809814 NA NA 0.364186 0.393781 NA 0.341 NA 5.6011806 1100 15 49148356 49148356 C A intronic SHC4 NA NA NA intronic ENSG00000185634 NA NA NA NA NA 15q21.1 NA Name=CTCF,SMC3_(ab9263) Name=121 NA rs16961733 0.2 0.2 0.183 0.214457 0.1064 0.2847 0.2781 0.1952 0.2342 0.11 0.28 0.25 0.21 0.1845 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.45475 NA NA 0.108149 0.188894 NA 0.159 NA 5.600951 1100 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 1100 19 40719497 40719497 A G exonic MAP3K10 NA synonymous SNV MAP3K10:NM_002446:exon9:c.A1911G:p.S637S exonic ENSG00000130758 NA synonymous SNV ENSG00000130758:ENST00000253055:exon9:c.A1911G:p.S637S NA NA 19q13.2 NA NA NA NA rs34886198 0.03 0.03 0.014 0.028754 0.0129 0.001 0.1282 0.0023 0.0389 0.01 NA 0.13 0.01 0.0407 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.466857 NA NA 0.013051 0.004552 NA 0.007 NA 5.6000156 1100 17 72539068 72539068 C T exonic CD300C NA synonymous SNV CD300C:NM_006678:exon3:c.G459A:p.T153T exonic ENSG00000167850 NA synonymous SNV ENSG00000167850:ENST00000330793:exon3:c.G459A:p.T153T NA NA 17q25.1 NA NA NA NA rs16978106 0.09 0.09 0.122 0.110423 0.0129 NA 0.0317 0.3661 0.0348 0.01 NA 0.02 0.36 0.0418 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018236 NA NA 0.012326 0.301407 NA 0.152 NA 5.5996406 1100 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 1100 19 55715319 55715319 C G exonic PTPRH NA synonymous SNV PTPRH:NM_002842:exon5:c.G717C:p.S239S exonic ENSG00000080031 NA synonymous SNV ENSG00000080031:ENST00000376350:exon5:c.G717C:p.S239S Score=284;Name=lod=19 NA 19q13.42 NA NA NA NA rs9304763 0.39 0.39 0.396 0.419329 0.3579 0.4038 0.4697 0.4402 0.4346 0.36 0.41 0.41 0.38 0.3793 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.749567 NA NA 0.330233 0.414889 NA 0.391 NA 5.5992336 1100 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 1100 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 1100 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 1100 2 166903445 166903445 T C exonic SCN1A NA synonymous SNV SCN1A:NM_001165963:exon9:c.A1212G:p.V404V,SCN1A:NM_001165964:exon9:c.A1212G:p.V404V,SCN1A:NM_006920:exon9:c.A1212G:p.V404V,SCN1A:NM_001202435:exon11:c.A1212G:p.V404V exonic ENSG00000144285 NA synonymous SNV ENSG00000144285:ENST00000303395:exon9:c.A1212G:p.V404V,ENSG00000144285:ENST00000375405:exon9:c.A1212G:p.V404V,ENSG00000144285:ENST00000409050:exon9:c.A1212G:p.V404V,ENSG00000144285:ENST00000423058:exon9:c.A1212G:p.V404V Score=696;Name=lod=896 NA 2q24.3 NA NA NA NA rs7580482 0.72 0.72 0.676 0.709265 0.6909 0.8909 0.7363 0.5582 0.726 0.69 0.89 0.72 0.55 0.7034 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 1.041671 NA NA 0.675233 0.570132 NA 0.601 CLINSIG=non-pathogenic|other;CLNDBN=Severe_myoclonic_epilepsy_in_infancy|not_specified;CLNREVSTAT=single|mult;CLNACC=RCV000030430.1|RCV000079554.3;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1318:C0751122:607208:ORPHA33069:230437002|. 5.5971336 1100 10 73455201 73455201 T C exonic CDH23 NA synonymous SNV CDH23:NM_001171930:exon21:c.T2316C:p.N772N,CDH23:NM_001171931:exon21:c.T2316C:p.N772N,CDH23:NM_022124:exon21:c.T2316C:p.N772N exonic ENSG00000107736 NA synonymous SNV ENSG00000107736:ENST00000224721:exon21:c.T2331C:p.N777N,ENSG00000107736:ENST00000299366:exon22:c.T2451C:p.N817N Score=634;Name=lod=505 NA 10q22.1 NA NA NA NA rs3752752 0.58 0.58 0.586 0.554513 0.7068 0.4385 0.5187 0.5038 0.6115 0.71 0.48 0.58 0.49 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 1.135601 NA NA 0.726679 0.551633 NA 0.551 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039126.1;CLNDSDB=.;CLNDSDBID=. 5.5969876 1100 1 222802803 222802803 T G exonic MIA3 NA synonymous SNV MIA3:NM_198551:exon4:c.T2241G:p.P747P exonic ENSG00000154305 NA synonymous SNV ENSG00000154305:ENST00000344441:exon4:c.T2241G:p.P747P,ENSG00000154305:ENST00000344922:exon4:c.T2241G:p.P747P NA NA 1q41 NA NA NA NA rs3748626 0.56 0.56 0.54 0.507388 0.7296 0.5823 0.5072 0.2504 0.5491 0.73 0.59 0.56 0.27 0.6337 0.73 . . . . . . . . 1.000 P . . . . -0.984 T 0.000 T . 0.165 4.887 -2.45 -0.571 -0.162 4.120 0.164882 NA NA 0.706812 0.314815 ID=COSM146781;OCCURENCE=1(stomach) 0.572 NA 5.5965546 1100 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 1100 10 73455273 73455273 T C exonic CDH23 NA synonymous SNV CDH23:NM_001171930:exon21:c.T2388C:p.D796D,CDH23:NM_001171931:exon21:c.T2388C:p.D796D,CDH23:NM_022124:exon21:c.T2388C:p.D796D exonic ENSG00000107736 NA synonymous SNV ENSG00000107736:ENST00000224721:exon21:c.T2403C:p.D801D,ENSG00000107736:ENST00000299366:exon22:c.T2523C:p.D841D Score=488;Name=lod=128 NA 10q22.1 NA NA NA NA rs3752751 0.58 0.58 0.582 0.553914 0.7068 0.4345 0.5187 0.5038 0.6125 0.71 0.48 0.58 0.49 0.6363 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 -0.171713 NA NA 0.727316 0.551499 NA 0.551 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039129.1;CLNDSDB=.;CLNDSDBID=. 5.5962506 1100 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 1100 19 757234 757234 C T exonic C19orf21 NA synonymous SNV C19orf21:NM_173481:exon2:c.C288T:p.R96R exonic ENSG00000099812 NA synonymous SNV ENSG00000099812:ENST00000215582:exon2:c.C288T:p.R96R NA NA 19p13.3 NA NA NA NA rs34384654 0.01 0.01 0.004 0.0081869 0.0328 NA 0.0043 0.0008 0.0041 0.03 NA 0.0028 0.002 0.0164 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 0.152642 NA NA 0.02186 0.003177 NA 0.007 NA 5.5956066 1100 19 9490814 9490814 C T exonic ZNF177,ZNF559-ZNF177 NA nonsynonymous SNV ZNF177:NM_001172651:exon5:c.C335T:p.T112M,ZNF559-ZNF177:NM_001202425:exon8:c.C335T:p.T112M,ZNF177:NM_003451:exon8:c.C335T:p.T112M,ZNF559-ZNF177:NM_001172650:exon11:c.C335T:p.T112M exonic ENSG00000188629,ENSG00000270011 NA nonsynonymous SNV ENSG00000188629:ENST00000434737:exon4:c.C335T:p.T112M,ENSG00000188629:ENST00000590616:exon4:c.C335T:p.T112M,ENSG00000188629:ENST00000589262:exon5:c.C335T:p.T112M,ENSG00000188629:ENST00000343499:exon8:c.C335T:p.T112M,ENSG00000188629:ENST00000602856:exon8:c.C335T:p.T112M,ENSG00000270011:ENST00000603656:exon8:c.C335T:p.T112M,ENSG00000270011:ENST00000446085:exon9:c.C335T:p.T112M,ENSG00000270011:ENST00000541595:exon11:c.C335T:p.T112M,ENSG00000188629:ENST00000602738:exon11:c.C335T:p.T112M NA NA 19p13.2 NA NA NA NA rs2217652 0.58 0.58 0.577 0.595048 0.5726 0.4623 0.5677 0.7451 0.5716 0.56 0.44 0.61 0.74 0.5741 0.74 0.33 T 0.0 B 0.0 B . . 1.000 P 0.205 N 5.63 T -1.086 T 0.000 T 0.146 -0.035 3.835 -0.894 -0.686 -0.858 7.670 -0.034961 NA 0.19 0.591512 0.722651 ID=COSM148501;OCCURENCE=1(stomach) 0.696 NA 5.5951214 1101 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 1101 9 102595685 102595685 C T exonic NR4A3 NA synonymous SNV NR4A3:NM_006981:exon5:c.C1203T:p.A401A,NR4A3:NM_173199:exon5:c.C1203T:p.A401A,NR4A3:NM_173200:exon6:c.C1236T:p.A412A exonic ENSG00000119508 NA synonymous SNV ENSG00000119508:ENST00000330847:exon4:c.C1236T:p.A412A,ENSG00000119508:ENST00000338488:exon5:c.C1203T:p.A401A,ENSG00000119508:ENST00000395097:exon5:c.C1203T:p.A401A Score=721;Name=lod=1133 NA 9q22.33 NA NA NA NA rs10988904 0.33 0.33 0.338 0.290535 0.3857 0.1687 0.2695 0.4191 0.1595 0.4 0.18 0.3 0.41 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 0.302728 NA NA 0.363256 0.381071 NA 0.384 NA 5.5942106 1101 1 8418650 8418650 T C exonic RERE NA synonymous SNV RERE:NM_001042682:exon10:c.A2283G:p.R761R,RERE:NM_001042681:exon20:c.A3945G:p.R1315R,RERE:NM_012102:exon21:c.A3945G:p.R1315R exonic ENSG00000142599 NA synonymous SNV ENSG00000142599:ENST00000476556:exon10:c.A2283G:p.R761R,ENSG00000142599:ENST00000377464:exon14:c.A3141G:p.R1047R,ENSG00000142599:ENST00000400908:exon20:c.A3945G:p.R1315R,ENSG00000142599:ENST00000337907:exon21:c.A3945G:p.R1315R Score=481;Name=lod=120 NA 1p36.23 Score=846;Name=V$ZID_01 NA NA NA rs1058766 0.78 0.78 0.774 0.80012 0.671 0.8998 0.7795 0.8691 0.7515 0.65 0.9 0.78 0.83 0.7225 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331845 NA NA 0.678979 0.841648 NA 0.703 NA 5.5941876 1101 19 48255804 48255804 A G exonic GLTSCR2 NA synonymous SNV GLTSCR2:NM_015710:exon6:c.A705G:p.A235A exonic ENSG00000105373 NA synonymous SNV ENSG00000105373:ENST00000246802:exon6:c.A705G:p.A235A NA NA 19q13.33 NA Name=Pol2 NA NA rs1042558 0.45 0.45 0.37 NA NA NA NA NA NA 0.54 0.55 0.51 0.14 0.518 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.020448 NA NA 0.554535 0.187472 NA 0.449 NA 5.5941316 1101 3 172166033 172166033 G A exonic GHSR NA synonymous SNV GHSR:NM_004122:exon1:c.C171T:p.G57G,GHSR:NM_198407:exon1:c.C171T:p.G57G exonic ENSG00000121853 NA synonymous SNV ENSG00000121853:ENST00000241256:exon1:c.C171T:p.G57G,ENSG00000121853:ENST00000427970:exon1:c.C171T:p.G57G Score=694;Name=lod=883 NA 3q26.31 NA Name=SUZ12 NA NA rs495225 0.6 0.6 0.577 0.540136 0.7018 0.619 0.6571 0.4047 0.3926 0.69 0.64 0.67 0.38 0.6555 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.631293 NA NA 0.715283 0.483886 NA 0.681 NA 5.5940836 1101 1 226474132 226474132 G A exonic LIN9 NA synonymous SNV LIN9:NM_001270409:exon5:c.C369T:p.F123F,LIN9:NM_001270410:exon6:c.C270T:p.F90F,LIN9:NM_173083:exon6:c.C474T:p.F158F exonic ENSG00000183814 NA synonymous SNV ENSG00000183814:ENST00000366801:exon5:c.C321T:p.F107F,ENSG00000183814:ENST00000460719:exon5:c.C354T:p.F118F,ENSG00000183814:ENST00000481685:exon5:c.C369T:p.F123F,ENSG00000183814:ENST00000328205:exon6:c.C474T:p.F158F,ENSG00000183814:ENST00000366808:exon6:c.C639T:p.F213F Score=483;Name=lod=123 NA 1q42.12 Score=854;Name=V$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 1101 20 61512424 61512424 C T exonic DIDO1 NA synonymous SNV DIDO1:NM_001193369:exon16:c.G4884A:p.G1628G,DIDO1:NM_033081:exon16:c.G4884A:p.G1628G exonic ENSG00000101191 NA synonymous SNV ENSG00000101191:ENST00000266070:exon16:c.G4884A:p.G1628G,ENSG00000101191:ENST00000395343:exon16:c.G4884A:p.G1628G NA NA 20q13.33 NA NA NA NA rs146466196 0.02 0.02 0.014 0.0145767 0.0318 NA 0.0461 0.0045 0.0031 0.03 NA 0.04 0.01 0.0201 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 0.426008 NA NA 0.021391 0.004815 NA 0.029 NA 5.5933756 1101 9 130475442 130475442 A C exonic C9orf117 NA nonsynonymous SNV C9orf117:NM_001012502:exon8:c.A1448C:p.Y483S exonic ENSG00000160401 NA nonsynonymous SNV ENSG00000160401:ENST00000373295:exon8:c.A1448C:p.Y483S NA NA 9q34.11 NA NA NA NA rs497632 0.53 0.53 0.512 0.536741 0.6014 0.2966 0.5807 0.5923 0.6115 0.61 0.31 0.57 0.62 0.5716 0.62 0.42 T 0.014 B 0.014 B 0.398 N 1.000 P 1.1 L 1.04 T -0.939 T 0.000 T 0.146 -0.499 1.713 0.369 -0.029 0.660 3.138 -0.498692 NA 0.42 0.567979 0.607984 NA 0.543 NA 5.5923544 1101 18 74659494 74659494 G A exonic ZNF236 NA synonymous SNV ZNF236:NM_007345:exon27:c.G4794A:p.A1598A exonic ENSG00000130856 NA synonymous SNV ENSG00000130856:ENST00000253159:exon27:c.G4794A:p.A1598A,ENSG00000130856:ENST00000320610:exon27:c.G4800A:p.A1600A NA NA 18q23 NA NA NA NA rs9961872 0.04 0.04 0.056 0.0501198 0.0258 0.0218 0.0346 0.1225 0.0174 0.02 0.03 0.02 0.11 0.0289 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 -0.927465 NA NA 0.020056 0.110126 NA 0.08 NA 5.5919106 1101 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 1101 20 62612675 62612675 G A intronic PRPF6 NA NA NA intronic ENSG00000101161,ENSG00000196700 NA NA NA NA NA 20q13.33 NA Name=ZBTB7A_(SC-34508),YY1,Pol2(b),YY1_(C-20),HA-E2F1,Pol2 Name=148 NA rs45566234 0.06 0.06 0.028 0.0948482 0.0984 0.0446 0.0908 0.0038 0.2689 0.09 0.05 0.07 0.02 0.2074 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 1.515268 1.515268 NA 0.103391 0.024152 NA 0.08 NA 5.590809 1101 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 1101 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 1101 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 1101 11 17532102 17532102 C T intronic USH1C NA NA NA intronic ENSG00000006611 NA NA NA Score=284;Name=lod=19 NA 11p15.1 NA NA Name=8 NA rs2237964 0.16 0.16 0.161 0.19988 0.1282 0.0843 0.183 0.2912 0.2812 0.13 0.08 0.17 0.28 0.1636 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.224296 4.224296 NA 0.118216 0.275 NA 0.21 NA 5.589984 1101 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 1101 12 50503269 50503269 C T exonic GPD1 NA synonymous SNV GPD1:NM_001257199:exon8:c.C948T:p.I316I,GPD1:NM_005276:exon8:c.C1017T:p.I339I exonic ENSG00000167588 NA synonymous SNV ENSG00000167588:ENST00000301149:exon8:c.C1017T:p.I339I,ENSG00000167588:ENST00000548814:exon8:c.C948T:p.I316I Score=371;Name=lod=43 NA 12q13.12 NA NA NA NA rs836180 0.25 0.25 0.225 0.205671 0.3956 0.0962 0.2968 0.0983 0.2035 0.41 0.1 0.36 0.12 0.306 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.940793 NA NA 0.376395 0.139809 NA 0.283 NA 5.5886716 1101 4 189061024 189061024 G A exonic TRIML1 NA synonymous SNV TRIML1:NM_178556:exon1:c.G312A:p.A104A exonic ENSG00000184108 NA synonymous SNV ENSG00000184108:ENST00000332517:exon1:c.G312A:p.A104A NA NA 4q35.2 NA NA NA NA rs73023226 0.06 0.06 0.071 0.067492 0.0179 0.001 0.0288 0.208 0.0245 0.02 0.0017 0.03 0.22 0.0348 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358264 NA NA 0.025581 0.182705 NA 0.072 NA 5.5883856 1101 4 66197804 66197804 C T exonic EPHA5 NA synonymous SNV EPHA5:NM_182472:exon16:c.G2829A:p.G943G,EPHA5:NM_004439:exon17:c.G2895A:p.G965G exonic ENSG00000145242 NA synonymous SNV ENSG00000145242:ENST00000432638:exon15:c.G2406A:p.G802G,ENSG00000145242:ENST00000354839:exon16:c.G2829A:p.G943G,ENSG00000145242:ENST00000273854:exon17:c.G2895A:p.G965G,ENSG00000145242:ENST00000511294:exon17:c.G2898A:p.G966G Score=697;Name=lod=906 NA 4q13.1 NA NA NA NA rs7349683 0.31 0.31 0.285 0.326677 0.3748 0.4613 0.3098 0.0893 0.4714 0.37 0.42 0.33 0.09 0.3465 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.416966 NA NA 0.357326 0.137767 NA 0.37 NA 5.5880406 1101 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$MYOGNF1_01 NA NA NA rs8533 0.54 0.54 0.576 0.546326 0.7247 0.2431 0.4813 0.6891 0.5286 0.71 0.26 0.49 0.63 0.6224 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.787325 NA NA 0.73186 0.689514 NA 0.507 NA 5.5877066 1101 21 43327793 43327793 C T exonic C2CD2 NA synonymous SNV C2CD2:NM_199050:exon8:c.G654A:p.S218S,C2CD2:NM_015500:exon9:c.G1119A:p.S373S exonic ENSG00000157617 NA synonymous SNV ENSG00000157617:ENST00000329623:exon8:c.G654A:p.S218S,ENSG00000157617:ENST00000380486:exon9:c.G1119A:p.S373S NA NA 21q22.3 Score=860;Name=V$MRF2_01 NA NA NA rs3746904 0.36 0.36 0.355 0.365815 0.3509 0.3859 0.4683 0.3169 0.3538 0.35 0.35 0.44 0.35 0.378 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.730317 NA NA 0.350465 0.358602 ID=COSM444519;OCCURENCE=1(breast) 0.406 NA 5.5873016 1101 12 6643991 6643991 C G UTR5 GAPDH NM_002046:c.-8C>G NA NA UTR5 ENSG00000111640 ENST00000229239:c.-8C>G,ENST00000396856:c.-1982C>G,ENST00000396861:c.-8C>G,ENST00000396859:c.-8C>G NA NA NA NA 12p13.31 NA Name=Pol2-4H8,Pol2,CCNT2,c-Myc,YY1_(C-20) Name=16 NA rs1136666 0.25 0.25 0.221 0.252796 0.2485 0.2579 0.2392 0.2958 0.2035 0.25 0.25 0.27 0.26 0.2395 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.384211 1.384211 NA 0.25814 0.272025 NA 0.225 NA 5.5871934 1101 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 1101 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 1101 19 52468278 52468278 G A exonic ZNF350 NA synonymous SNV ZNF350:NM_021632:exon5:c.C1428T:p.S476S exonic ENSG00000256683 NA synonymous SNV ENSG00000256683:ENST00000243644:exon5:c.C1428T:p.S476S NA NA 19q13.41 NA NA NA NA rs4988336 0.02 0.02 0.013 0.0163738 0.0368 0.004 0.0245 0.0068 0.0153 0.03 0.0035 0.04 0.01 0.0226 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 0.376582 NA NA 0.020814 0.006355 NA NA NA 5.5864526 1101 20 48729677 48729677 C G UTR5 UBE2V1 NM_001257399:c.-16424G>C,NM_001257398:c.-16424G>C,NM_001257397:c.-16424G>C,NM_001257396:c.-12G>C,NM_001257395:c.-12G>C,NM_001032288:c.-12G>C NA NA UTR5 ENSG00000244687 ENST00000371674:c.-12G>C NA NA Score=548;Name=lod=225 NA 20q13.13 Score=803;Name=V$PAX4_01 Name=TAF1,Pol2-4H8,HEY1,Pol2,USF1_(SC-8983),Ini1,TBP,CCNT2,YY1,YY1_(C-20),c-Myc,Nrf1 Name=148 NA rs126907 0.96 0.96 0.942 0.967252 0.9145 0.9911 0.9597 0.9939 0.9663 0.92 0.99 0.95 0.99 0.9286 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 2.953796 2.953796 NA 0.904086 0.984069 NA 0.616 NA 5.5861474 1101 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 1101 19 18538742 18538742 A C exonic SSBP4 NA synonymous SNV SSBP4:NM_001009998:exon4:c.A229C:p.R77R,SSBP4:NM_032627:exon4:c.A229C:p.R77R exonic ENSG00000130511 NA synonymous SNV ENSG00000130511:ENST00000270061:exon4:c.A229C:p.R77R,ENSG00000130511:ENST00000348495:exon4:c.A229C:p.R77R,ENSG00000130511:ENST00000597724:exon4:c.A295C:p.R99R,ENSG00000130511:ENST00000598159:exon4:c.A202C:p.R68R,ENSG00000130511:ENST00000600628:exon4:c.A214C:p.R72R Score=444;Name=lod=85 NA 19p13.11 NA NA NA NA rs10405636 0.43 0.43 0.383 0.470647 0.3469 0.2153 0.3689 0.8283 0.4499 0.35 0.25 0.4 0.8 0.3914 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 -0.289756 NA NA 0.342405 0.75034 NA 0.355 NA 5.5859616 1101 3 112185025 112185025 G A exonic BTLA NA nonsynonymous SNV BTLA:NM_001085357:exon4:c.C656T:p.P219L,BTLA:NM_181780:exon5:c.C800T:p.P267L exonic ENSG00000186265 NA nonsynonymous SNV ENSG00000186265:ENST00000383680:exon4:c.C656T:p.P219L,ENSG00000186265:ENST00000334529:exon5:c.C800T:p.P267L NA NA 3q13.2 NA NA Name=2 NA rs9288952 0.69 0.69 0.658 0.644569 0.9563 0.7212 0.745 0.1838 0.7965 0.96 0.75 0.75 0.17 0.833 0.96 0.56 T 0.0 B 0.0 B 0.205 N 1.000 P -0.345 N 2.05 T -1.024 T 0.000 T 0.012 -2.603 0 -0.709 -0.251 0.120 5.075 -2.60262 NA 1 0.95814 0.295506 NA 0.645 NA 5.5858934 1101 17 59763347 59763347 A G exonic BRIP1 NA nonsynonymous SNV BRIP1:NM_032043:exon19:c.T2755C:p.S919P exonic ENSG00000136492 NA nonsynonymous SNV ENSG00000136492:ENST00000577598:exon18:c.T2755C:p.S919P,ENSG00000136492:ENST00000259008:exon19:c.T2755C:p.S919P NA NA 17q23.2 NA NA NA NA rs4986764 0.67 0.67 0.636 0.627796 0.5616 0.755 0.7363 0.6861 0.409 0.55 0.78 0.72 0.7 0.5972 0.78 . . 0.0 B 0.0 B 0.053 N 1.000 P . . -0.86 T -0.937 T 0.000 T 0.026 0.059 4.321 0.71 0.011 0.136 5.650 0.059004 NA 0 0.588953 0.661144 NA 0.703 NA 5.5855804 1101 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 1101 19 18546678 18546678 T C exonic ISYNA1 NA synonymous SNV ISYNA1:NM_001253389:exon5:c.A645G:p.L215L,ISYNA1:NM_001170938:exon7:c.A867G:p.L289L,ISYNA1:NM_016368:exon8:c.A1029G:p.L343L exonic ENSG00000105655 NA synonymous SNV ENSG00000105655:ENST00000545187:exon5:c.A579G:p.L193L,ENSG00000105655:ENST00000578963:exon5:c.A645G:p.L215L,ENSG00000105655:ENST00000607645:exon6:c.A585G:p.L195L,ENSG00000105655:ENST00000317018:exon7:c.A423G:p.L141L,ENSG00000105655:ENST00000457269:exon7:c.A867G:p.L289L,ENSG00000105655:ENST00000338128:exon8:c.A1029G:p.L343L Score=572;Name=lod=282 NA 19p13.11 NA NA NA NA rs2303697 0.43 0.43 0.435 0.472444 0.3479 0.2163 0.3732 0.8298 0.4519 0.35 0.24 0.41 0.8 0.3907 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 0.389283 NA NA 0.342674 0.751929 NA 0.37 NA 5.5853926 1101 X 46472826 46472826 G A exonic SLC9A7 NA synonymous SNV SLC9A7:NM_001257291:exon16:c.C1827T:p.Y609Y,SLC9A7:NM_032591:exon16:c.C1824T:p.Y608Y exonic ENSG00000065923 NA synonymous SNV ENSG00000065923:ENST00000328306:exon16:c.C1824T:p.Y608Y Score=502;Name=lod=146 NA Xp11.23 NA NA NA NA rs3208940 0.68 0.68 0.68998 NA NA NA NA NA NA 0.52 0.72 0.62 0.93 0.5857 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 0.819786 NA NA 0.495838 0.861017 NA 0.572 NA 5.5851286 1101 9 35546923 35546923 C T exonic RUSC2 NA synonymous SNV RUSC2:NM_001135999:exon2:c.C405T:p.G135G,RUSC2:NM_014806:exon2:c.C405T:p.G135G exonic ENSG00000198853 NA synonymous SNV ENSG00000198853:ENST00000361226:exon2:c.C405T:p.G135G,ENSG00000198853:ENST00000455600:exon2:c.C405T:p.G135G NA NA 9p13.3 NA NA NA NA rs41277049 0.02 0.02 0.009 0.0285543 0.0199 0.001 0.121 0.003 0.0348 0.01 0.0017 0.08 0.01 0.036 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 -0.48862 NA NA 0.025698 0.009305 NA 0.022 NA 5.5850686 1102 5 180669136 180669136 C T intronic GNB2L1 NA NA NA intronic ENSG00000204628 NA NA NA NA NA 5q35.3 NA Name=CTCF_(SC-5916) Name=36 NA rs17657699 0.08 0.08 0.071 0.0810703 0.1382 0.0665 0.1095 0.0053 0.1196 0.14 0.04 0.1 0.01 0.1263 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.775473 NA NA 0.150698 0.027236 NA 0.029 NA 5.584802 1102 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 1102 16 89971469 89971469 C T exonic TCF25 NA synonymous SNV TCF25:NM_014972:exon14:c.C1593T:p.D531D exonic ENSG00000141002 NA synonymous SNV ENSG00000141002:ENST00000263347:exon11:c.C888T:p.D296D,ENSG00000141002:ENST00000263346:exon14:c.C1593T:p.D531D NA NA 16q24.3 NA NA NA NA rs144937287 0.01 0.01 0.008 0.00798722 0.0278 NA 0.0159 0.0008 NA 0.02 NA 0.02 NA 0.0262 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 -0.927388 NA NA 0.028645 0.003878 NA 0.007 NA 5.5840216 1102 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 1102 5 56526783 56526783 G A exonic GPBP1 NA synonymous SNV GPBP1:NM_001127236:exon3:c.G195A:p.G65G,GPBP1:NM_001127235:exon4:c.G195A:p.G65G,GPBP1:NM_022913:exon4:c.G174A:p.G58G exonic ENSG00000062194 NA synonymous SNV ENSG00000062194:ENST00000264779:exon3:c.G195A:p.G65G,ENSG00000062194:ENST00000454432:exon3:c.G174A:p.G58G,ENSG00000062194:ENST00000538707:exon3:c.G195A:p.G65G,ENSG00000062194:ENST00000424459:exon4:c.G174A:p.G58G,ENSG00000062194:ENST00000506184:exon4:c.G174A:p.G58G,ENSG00000062194:ENST00000511209:exon4:c.G195A:p.G65G Score=628;Name=lod=476 NA 5q11.2 Score=842;Name=V$MRF2_01 NA NA NA rs1130203 0.83 0.83 0.848 0.853834 0.6541 0.998 0.8314 0.9713 0.7679 0.63 1 0.79 0.97 0.749 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.946343 NA NA 0.679884 0.925556 NA 0.841 NA 5.5836826 1102 12 108985479 108985479 C T exonic TMEM119 NA synonymous SNV TMEM119:NM_181724:exon2:c.G681A:p.E227E exonic ENSG00000183160 NA synonymous SNV ENSG00000183160:ENST00000392806:exon2:c.G681A:p.E227E NA NA 12q23.3 NA NA NA NA rs112991728 0.04 0.04 0.04 0.0658946 0.0278 0.004 0.0216 0.1596 0.0736 0.02 0.01 0.02 0.13 0.0371 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042387 NA NA 0.018605 0.141625 NA 0.036 NA 5.5831616 1102 10 3206027 3206027 A G exonic PITRM1 NA synonymous SNV PITRM1:NM_001242309:exon6:c.T585C:p.P195P,PITRM1:NM_001242307:exon7:c.T681C:p.P227P,PITRM1:NM_014889:exon7:c.T681C:p.P227P exonic ENSG00000107959 NA synonymous SNV ENSG00000107959:ENST00000451104:exon6:c.T585C:p.P195P,ENSG00000107959:ENST00000224949:exon7:c.T681C:p.P227P,ENSG00000107959:ENST00000380989:exon7:c.T681C:p.P227P Score=514;Name=lod=164 NA 10p15.2 Score=902;Name=V$CEBP_01 NA NA NA rs4609511 0.64 0.64 0.626 0.624201 0.6988 0.6032 0.5793 0.5393 0.7157 0.71 0.62 0.65 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 -0.385519 NA NA 0.721308 0.604296 NA 0.652 NA 5.5831586 1102 19 41008049 41008049 A G exonic SPTBN4 NA synonymous SNV SPTBN4:NM_020971:exon9:c.A912G:p.V304V exonic ENSG00000160460 NA synonymous SNV ENSG00000160460:ENST00000338932:exon9:c.A912G:p.V304V,ENSG00000160460:ENST00000344104:exon9:c.A912G:p.V304V,ENSG00000160460:ENST00000352632:exon9:c.A912G:p.V304V,ENSG00000160460:ENST00000595535:exon9:c.A912G:p.V304V,ENSG00000160460:ENST00000598249:exon9:c.A912G:p.V304V Score=549;Name=lod=227 NA 19q13.2 NA NA NA NA rs814526 0.36 0.36 0.396 0.377596 0.3598 0.1766 0.2507 0.6596 0.3119 0.37 0.18 0.28 0.62 0.3589 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.007142 NA NA 0.365116 0.611893 NA 0.348 NA 5.5828506 1102 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 1102 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 1102 21 40571246 40571246 A G exonic BRWD1 NA nonsynonymous SNV BRWD1:NM_018963:exon40:c.T5096C:p.L1699P,BRWD1:NM_033656:exon40:c.T5096C:p.L1699P exonic ENSG00000185658 NA nonsynonymous SNV ENSG00000185658:ENST00000333229:exon40:c.T5096C:p.L1699P,ENSG00000185658:ENST00000342449:exon40:c.T5096C:p.L1699P,ENSG00000185658:ENST00000380800:exon40:c.T5096C:p.L1699P NA NA 21q22.2 NA NA NA NA rs1041439 0.85 0.85 0.843 0.852835 0.9195 0.6091 0.9337 0.9743 0.8139 0.92 0.59 0.94 0.97 0.8969 0.97 0.39 T 0.0 B 0.0 B 0.541 N 1.000 P -0.55 N 0.73 T -1.036 T 0.000 T 0.034 -2.806 0 1.48 0.052 -1.370 4.679 -2.806355 NA 0.17 0.934535 0.970268 NA 0.826 NA 5.5823984 1102 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 1102 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=c-Myc,IRF1,Max,Mxi1_(bHLH),Sin3Ak-20,Egr-1,AP-2gamma,USF1_(SC-8983),USF2,Pol2,USF-1,Pol2-4H8,ATF3,NF-E2,HEY1 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 1102 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 1102 4 187541131 187541131 G A exonic FAT1 NA synonymous SNV FAT1:NM_005245:exon10:c.C6609T:p.H2203H exonic ENSG00000083857 NA synonymous SNV ENSG00000083857:ENST00000441802:exon10:c.C6609T:p.H2203H NA NA 4q35.2 NA NA NA NA rs35389971 0.02 0.02 0.015 0.0141773 0.0358 NA 0.0159 0.0008 0.0235 0.03 NA 0.02 0.002 0.0211 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 -2.204829 NA NA 0.028537 0.005976 NA NA NA 5.5812296 1102 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 1102 2 141751592 141751592 G A exonic LRP1B NA synonymous SNV LRP1B:NM_018557:exon16:c.C2616T:p.D872D exonic ENSG00000168702 NA synonymous SNV ENSG00000168702:ENST00000389484:exon16:c.C2616T:p.D872D Score=516;Name=lod=166 NA 2q22.1 NA NA NA NA rs13007735 0.49 0.49 0.488 0.509585 0.3748 0.6141 0.3847 0.6059 0.499 0.37 0.63 0.4 0.56 0.388 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.658896 NA NA 0.323256 0.546074 NA 0.536 NA 5.5806106 1102 21 38459725 38459725 A G intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA NA NA 21q22.13 NA Name=MafK_(ab50322),CTCF,KAP1,BCL3,CTCF_(C-20),Rad21 Name=126 NA rs2835583 0.22 0.22 0.197 0.21246 0.1223 0.0804 0.3357 0.4304 0.0593 0.13 0.1 0.32 0.43 0.1641 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.237362 NA NA 0.133605 0.386745 NA 0.304 NA 5.579995 1102 15 49044538 49044538 C G intronic CEP152 NA NA NA intronic ENSG00000103995 NA NA NA Score=313;Name=lod=25 NA 15q21.1 NA NA NA NA rs2306187 0.32 0.32 0.309 0.324681 0.1064 0.4206 0.1945 0.6014 0.1687 0.11 0.44 0.19 0.6 0.1989 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.870379 NA NA 0.11545 0.48847 NA 0.283 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000081686.1|RCV000124240.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.57925 1102 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 1102 19 47774680 47774680 C G exonic CCDC9 NA synonymous SNV CCDC9:NM_015603:exon12:c.C1341G:p.A447A exonic ENSG00000105321 NA synonymous SNV ENSG00000105321:ENST00000221922:exon12:c.C1341G:p.A447A NA NA 19q13.32 NA NA NA NA rs117519030 0.01 0.01 0.012 0.0071885 0.0249 NA 0.0043 0.0023 0.0051 0.03 NA 0.01 0.0041 0.0273 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 0.523674 NA NA 0.036171 0.00522 NA 0.014 NA 5.5782956 1102 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 1102 17 65105257 65105257 C T exonic HELZ NA synonymous SNV HELZ:NM_014877:exon29:c.G4464A:p.S1488S exonic ENSG00000198265 NA synonymous SNV ENSG00000198265:ENST00000358691:exon29:c.G4464A:p.S1488S,ENSG00000198265:ENST00000580168:exon29:c.G4467A:p.S1489S NA NA 17q24.2 NA NA NA NA rs117043746 0.02 0.02 0.015 0.00998403 0.0348 NA 0.0187 0.0015 NA 0.04 NA 0.02 0.0041 0.0238 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 -0.76221 NA NA 0.030173 0.007563 NA 0.007 NA 5.5778936 1102 6 148865257 148865257 A G exonic SASH1 NA nonsynonymous SNV SASH1:NM_015278:exon18:c.A2651G:p.Q884R exonic ENSG00000111961 NA nonsynonymous SNV ENSG00000111961:ENST00000367467:exon18:c.A2651G:p.Q884R NA NA 6q24.3 NA NA NA NA rs208696 0.56 0.56 0.537 0.585064 0.5716 0.3631 0.6196 0.7035 0.6431 0.57 0.35 0.63 0.73 0.5878 0.73 1 T 0.0 B 0.0 B 0.863 N 1.000 P -1.1 N 1.34 T -0.976 T 0.007 T 0.007 -1.981 0.007 -1.65 -0.570 -0.382 6.506 -1.981279 NA 1 0.596163 0.683386 NA 0.529 NA 5.5777704 1102 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 1102 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 1102 1 1558792 1558792 T C exonic MIB2 NA nonsynonymous SNV MIB2:NM_001170686:exon3:c.T305C:p.M102T,MIB2:NM_001170688:exon3:c.T305C:p.M102T,MIB2:NM_080875:exon3:c.T305C:p.M102T exonic ENSG00000197530 NA nonsynonymous SNV ENSG00000197530:ENST00000504599:exon2:c.T2C:p.M1T,ENSG00000197530:ENST00000357210:exon3:c.T134C:p.M45T,ENSG00000197530:ENST00000360522:exon3:c.T134C:p.M45T,ENSG00000197530:ENST00000378710:exon3:c.T134C:p.M45T,ENSG00000197530:ENST00000487053:exon3:c.T2C:p.M1T,ENSG00000197530:ENST00000489635:exon3:c.T134C:p.M45T,ENSG00000197530:ENST00000505820:exon3:c.T305C:p.M102T,ENSG00000197530:ENST00000518681:exon3:c.T305C:p.M102T,ENSG00000197530:ENST00000520777:exon3:c.T305C:p.M102T NA NA 1p36.33 NA NA NA NA rs12755088 0.76 0.76 0.803 0.773562 0.9364 0.5516 0.8674 0.7057 0.8599 0.92 0.55 0.86 0.69 0.8797 0.94 0.31 T 0.013 B 0.004 B 0.135 U 1.000 P 0 N 1.44 T -1.000 T 0.000 T 0.13 0.617 7.321 -2.47 -0.339 . 4.729 0.617033 NA 0.94 0.940063 0.766773 NA 0.819 NA 5.5771704 1102 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 1102 X 46618321 46618321 C G exonic SLC9A7 NA synonymous SNV SLC9A7:NM_001257291:exon1:c.G144C:p.A48A,SLC9A7:NM_032591:exon1:c.G144C:p.A48A exonic ENSG00000065923 NA synonymous SNV ENSG00000065923:ENST00000328306:exon1:c.G144C:p.A48A NA NA Xp11.23 NA Name=ZNF263 NA NA rs1056846 0.7 0.7 0.7186 NA NA NA NA NA NA 0.46 0.84 0.65 0.97 0.6438 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 1.120974 NA NA 0.445817 0.909471 NA 0.065 NA 5.5770496 1102 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 1102 8 144801243 144801243 C T exonic MAPK15 NA synonymous SNV MAPK15:NM_139021:exon6:c.C498T:p.P166P exonic ENSG00000181085 NA synonymous SNV ENSG00000181085:ENST00000338033:exon6:c.C498T:p.P166P,ENSG00000181085:ENST00000395107:exon6:c.C549T:p.P183P,ENSG00000181085:ENST00000395108:exon6:c.C498T:p.P166P NA NA 8q24.3 NA Name=AP-2alpha,AP-2gamma,USF-1,Pol2(phosphoS2) Name=18 NA rs12678428 0.51 0.51 0.467 0.471446 0.7326 0.4673 0.5735 0.0877 0.6534 0.74 0.47 0.62 0.1 0.6563 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.612608 NA NA 0.700954 0.207367 NA 0.065 NA 5.5768126 1102 5 13845045 13845045 G A exonic DNAH5 NA synonymous SNV DNAH5:NM_001369:exon32:c.C5172T:p.A1724A exonic ENSG00000039139 NA synonymous SNV ENSG00000039139:ENST00000265104:exon32:c.C5172T:p.A1724A Score=524;Name=lod=179 NA 5p15.2 NA NA NA NA rs10041113 0.47 0.47 0.48 0.454673 0.3598 0.622 0.4092 0.5174 0.3272 0.38 0.59 0.37 0.56 0.3824 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341784 NA NA 0.348023 0.499546 NA 0.442 NA 5.5764436 1102 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$TCF11_01 NA NA NA rs2304075 0.75 0.75 0.758 0.743011 0.831 0.7123 0.6628 0.7322 0.7556 0.83 0.66 0.7 0.77 0.7707 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29796 NA NA 0.823039 0.776427 NA 0.833 NA 5.575261 1102 1 43638410 43638410 G C UTR5 WDR65 NM_152498:c.-15G>C,NM_001167965:c.-15G>C,NM_001195831:c.-15G>C NA NA UTR5 ENSG00000243710 ENST00000372492:c.-15G>C,ENST00000528956:c.-15G>C,ENST00000529956:c.-15G>C,ENST00000525227:c.-15G>C,ENST00000533339:c.-15G>C NA NA NA NA 1p34.2 NA Name=ZNF263,Pol2-4H8,E2F4,SETDB1,Sin3Ak-20,E2F6_(H-50),Mxi1_(bHLH),E2F6,Max,GATA-2,SP1,IRF1 Name=142 NA rs1782386 0.17 0.17 0.158 0.142372 0.2903 NA 0.1513 0.1309 0.1462 0.32 NA 0.19 0.13 0.2108 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.968646 NA NA 0.257209 0.120064 NA 0.254 NA 5.5750244 1103 19 56388527 56388527 T A exonic NLRP4 NA synonymous SNV NLRP4:NM_134444:exon8:c.T2691A:p.I897I exonic ENSG00000160505 NA synonymous SNV ENSG00000160505:ENST00000587891:exon6:c.T2466A:p.I822I,ENSG00000160505:ENST00000346986:exon7:c.T2523A:p.I841I,ENSG00000160505:ENST00000301295:exon8:c.T2691A:p.I897I NA NA 19q13.43 NA NA NA NA rs117456828 0.02 0.02 0.016 0.0107827 0.0328 NA 0.0173 0.0023 0.0061 0.03 NA 0.02 0.0041 0.0233 0.036 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25452 NA NA 0.035698 0.006128 NA NA NA 5.5748686 1103 18 55027212 55027212 T G intronic ST8SIA3 NA NA NA intronic ENSG00000177511 NA NA NA Score=549;Name=lod=227 NA 18q21.31 Score=920;Name=V$NKX3A_01 Name=FOXA2_(SC-6554) NA NA rs1942964 0.36 0.36 0.328 0.328275 0.495 0.4008 0.4452 0.0582 0.364 0.5 0.37 0.46 0.06 0.4426 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.068129 4.068129 NA 0.488605 0.139355 NA 0.362 NA 5.573795 1103 1 100336361 100336361 C T exonic AGL NA synonymous SNV AGL:NM_000645:exon5:c.C843T:p.L281L,AGL:NM_000028:exon7:c.C894T:p.L298L,AGL:NM_000642:exon7:c.C894T:p.L298L,AGL:NM_000643:exon7:c.C894T:p.L298L,AGL:NM_000644:exon7:c.C894T:p.L298L,AGL:NM_000646:exon7:c.C846T:p.L282L exonic ENSG00000162688 NA synonymous SNV ENSG00000162688:ENST00000361522:exon5:c.C843T:p.L281L,ENSG00000162688:ENST00000370161:exon6:c.C846T:p.L282L,ENSG00000162688:ENST00000294724:exon7:c.C894T:p.L298L,ENSG00000162688:ENST00000361302:exon7:c.C846T:p.L282L,ENSG00000162688:ENST00000361915:exon7:c.C894T:p.L298L,ENSG00000162688:ENST00000370163:exon7:c.C894T:p.L298L,ENSG00000162688:ENST00000370165:exon7:c.C894T:p.L298L Score=511;Name=lod=159 NA 1p21.2 NA Name=CEBPB NA NA rs2230306 0.74 0.74 0.736 0.76258 0.6759 0.6835 0.7017 0.9334 0.7454 0.67 0.68 0.7 0.95 0.7214 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 1.013379 NA NA 0.695749 0.908272 NA 0.71 NA 5.5736176 1103 9 116153900 116153900 A G exonic ALAD NA synonymous SNV ALAD:NM_000031:exon4:c.T168C:p.Y56Y exonic ENSG00000148218 NA synonymous SNV ENSG00000148218:ENST00000277315:exon3:c.T117C:p.Y39Y,ENSG00000148218:ENST00000409155:exon4:c.T168C:p.Y56Y,ENSG00000148218:ENST00000448137:exon5:c.T195C:p.Y65Y Score=516;Name=lod=167 NA 9q32 NA NA NA NA rs1139488 0.39 0.39 0.366 0.352236 0.3757 0.497 0.3674 0.3011 0.2372 0.38 0.46 0.4 0.29 0.3493 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.905854 NA NA 0.369302 0.324784 ID=COSM150680;OCCURENCE=1(stomach) 0.42 NA 5.5723646 1103 7 80088041 80088041 G A exonic GNAT3 NA synonymous SNV GNAT3:NM_001102386:exon8:c.C1011T:p.D337D exonic ENSG00000214415 NA synonymous SNV ENSG00000214415:ENST00000398291:exon8:c.C1011T:p.D337D Score=627;Name=lod=469 NA 7q21.11 NA NA NA NA rs2074674 0.46 0.46 0.455 0.467452 0.3201 0.7421 0.4481 0.4168 0.4182 0.33 0.76 0.4 0.36 0.4539 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 0.763184 NA NA 0.32041 0.415855 ID=COSM453438,COSM453439;OCCURENCE=1(breast) 0.478 NA 5.5722566 1103 11 8959511 8959511 T G exonic ASCL3 NA synonymous SNV ASCL3:NM_020646:exon2:c.A198C:p.G66G exonic ENSG00000176009 NA synonymous SNV ENSG00000176009:ENST00000531618:exon1:c.A198C:p.G66G,ENSG00000176009:ENST00000325884:exon2:c.A198C:p.G66G Score=251;Name=lod=14 NA 11p15.4 NA Name=E2F6_(H-50) NA NA rs4910179 0.67 0.67 0.636 0.660743 0.6819 0.9306 0.7176 0.3215 0.7791 0.68 0.92 0.68 0.35 0.7058 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 -0.975316 NA NA 0.706752 0.382326 NA 0.601 NA 5.5722146 1103 17 73559441 73559441 C T exonic LLGL2 NA synonymous SNV LLGL2:NM_001015002:exon8:c.C723T:p.D241D,LLGL2:NM_001031803:exon8:c.C723T:p.D241D,LLGL2:NM_004524:exon8:c.C723T:p.D241D exonic ENSG00000073350 NA synonymous SNV ENSG00000073350:ENST00000167462:exon8:c.C723T:p.D241D,ENSG00000073350:ENST00000375227:exon8:c.C723T:p.D241D,ENSG00000073350:ENST00000392550:exon8:c.C723T:p.D241D,ENSG00000073350:ENST00000577200:exon8:c.C723T:p.D241D,ENSG00000073350:ENST00000578363:exon9:c.C723T:p.D241D NA NA 17q25.1 NA NA NA NA rs34158736 0.02 0.02 0.022 0.014377 0.0477 NA 0.0101 0.0068 0.0082 0.04 NA 0.01 0.01 0.0192 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 0.609219 NA NA 0.027565 0.01204 NA 0.007 NA 5.5722016 1103 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 1103 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 1103 9 95068046 95068046 C T exonic NOL8 NA synonymous SNV NOL8:NM_017948:exon12:c.G2892A:p.K964K,NOL8:NM_001256394:exon13:c.G2688A:p.K896K exonic ENSG00000198000 NA synonymous SNV ENSG00000198000:ENST00000535387:exon10:c.G2778A:p.K926K,ENSG00000198000:ENST00000542053:exon11:c.G2688A:p.K896K,ENSG00000198000:ENST00000432670:exon12:c.G2892A:p.K964K,ENSG00000198000:ENST00000442668:exon12:c.G2892A:p.K964K,ENSG00000198000:ENST00000544867:exon12:c.G2892A:p.K964K,ENSG00000198000:ENST00000545558:exon12:c.G2892A:p.K964K,ENSG00000198000:ENST00000358855:exon13:c.G2688A:p.K896K NA NA 9q22.31 Score=894;Name=V$GATA_C NA NA NA rs1133908 0.41 0.41 0.442 0.433906 0.3549 0.1508 0.2968 0.8933 0.2832 0.33 0.16 0.33 0.88 0.362 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 -0.608582 NA NA 0.378082 0.800325 NA 0.478 NA 5.5716846 1103 5 150886882 150886882 G A exonic FAT2 NA nonsynonymous SNV FAT2:NM_001447:exon22:c.C12350T:p.P4117L exonic ENSG00000086570 NA nonsynonymous SNV ENSG00000086570:ENST00000261800:exon22:c.C12350T:p.P4117L NA NA 5q33.1 NA NA NA NA rs1105168 0.71 0.71 0.705 0.776957 0.5487 0.8244 0.7291 0.91 0.817 0.55 0.82 0.69 0.87 0.6643 0.87 0.71 T 0.0 B 0.0 B 0.700 N 1.000 P -0.345 N -0.51 T -0.982 T 0.000 T 0.229 -1.314 0.034 0.264 -0.078 -0.041 9.595 -1.314492 NA 1 0.548953 0.857921 NA 0.703 NA 5.5713804 1103 15 52901638 52901638 T C exonic FAM214A NA synonymous SNV FAM214A:NM_019600:exon6:c.A1473G:p.Q491Q exonic ENSG00000047346 NA synonymous SNV ENSG00000047346:ENST00000399202:exon5:c.A1209G:p.Q403Q,ENSG00000047346:ENST00000546305:exon5:c.A1494G:p.Q498Q,ENSG00000047346:ENST00000261844:exon6:c.A1473G:p.Q491Q,ENSG00000047346:ENST00000534964:exon6:c.A1473G:p.Q491Q Score=566;Name=lod=267 NA 15q21.3 NA Name=CEBPB NA NA rs3751614 0.45 0.45 0.402 0.416933 0.7445 0.1081 0.6095 0.2012 0.5532 0.75 0.12 0.62 0.23 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 0.535825 NA NA 0.731242 0.325546 ID=COSM147915;OCCURENCE=1(stomach) 0.493 NA 5.5712246 1103 19 17438642 17438642 A G exonic ANO8 NA synonymous SNV ANO8:NM_020959:exon14:c.T2274C:p.V758V exonic ENSG00000074855 NA synonymous SNV ENSG00000074855:ENST00000159087:exon14:c.T2274C:p.V758V NA NA 19p13.11 NA Name=SP1,Rad21,YY1_(C-20),CTCF,Pol2,CTCF_(SC-5916),Pol2-4H8 Name=54 NA rs8102944 0.6 0.6 0.612 0.621805 0.7227 0.2917 0.4899 0.8669 0.6207 0.73 0.23 0.53 0.86 0.6647 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 -0.67549 NA NA 0.70814 0.852701 NA 0.717 NA 5.5711266 1103 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 1103 10 102506070 102506070 G C intronic PAX2 NA NA NA intronic ENSG00000075891 NA NA NA Score=690;Name=lod=852 NA 10q24.31 NA Name=ZNF263 Name=10 NA rs4472867 0.83 0.83 0.814 0.846645 0.8012 0.998 0.8199 0.7103 0.9407 0.81 1 0.8 0.69 0.8365 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.690379 1.690379 NA 0.792045 0.741716 NA 0.746 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080359.1;CLNDSDB=.;CLNDSDBID=. 5.570255 1103 5 139940233 139940233 G A exonic APBB3 NA synonymous SNV APBB3:NM_006051:exon10:c.C1044T:p.H348H,APBB3:NM_133172:exon10:c.C1038T:p.H346H,APBB3:NM_133173:exon10:c.C1023T:p.H341H,APBB3:NM_133174:exon10:c.C1017T:p.H339H exonic ENSG00000113108 NA synonymous SNV ENSG00000113108:ENST00000508496:exon7:c.C354T:p.H118H,ENSG00000113108:ENST00000356738:exon10:c.C1038T:p.H346H,ENSG00000113108:ENST00000412920:exon10:c.C1017T:p.H339H,ENSG00000113108:ENST00000354402:exon11:c.C1044T:p.H348H,ENSG00000113108:ENST00000357560:exon11:c.C1023T:p.H341H Score=452;Name=lod=92 NA 5q31.3 NA Name=CTCF NA NA rs250431 0.65 0.65 0.638 0.63139 0.7137 0.8254 0.7248 0.292 0.7393 0.72 0.83 0.71 0.31 0.6841 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 -0.175761 NA NA 0.698953 0.370631 NA 0.696 NA 5.5699136 1103 8 123966159 123966159 G C exonic ZHX2 NA synonymous SNV ZHX2:NM_014943:exon3:c.G2409C:p.A803A exonic ENSG00000178764 NA synonymous SNV ENSG00000178764:ENST00000314393:exon3:c.G2409C:p.A803A NA NA 8q24.13 NA NA Name=2 NA rs3802265 0.49 0.49 0.492 0.466853 0.3449 0.7421 0.4035 0.4773 0.3395 0.33 0.73 0.4 0.5 0.4003 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 -0.212704 NA NA 0.351744 0.486609 NA 0.42 NA 5.5697226 1103 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 1103 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=CEBPB,AP-2alpha,NANOG_(SC-33759),YY1,BRCA1_(C-1863),PU.1,Pol2(b),PAX5-N19,TR4,Egr-1,CCNT2,TBP,SMC3_(ab9263),SIRT6,JunD,CTCFL_(SC-98982),BHLHE40,eGFP-GATA2,GR,ZNF263,MafK_(SC-477),GTF2F1_(RAP-74),BATF,Oct-2,c-Myc,p300_(N-15),SP1,SRF,GCN5,Max,YY1_(C-20),ZBTB33,STAT3,MEF2C_(SC-13268),NRSF,Mxi1_(bHLH),PAX5-C20,Sin3Ak-20,SETDB1,THAP1_(SC-98174),GATA3_(SC-268),FOSL1_(SC-183),SIX5,eGFP-JunD,RXRA,BCL11A,MEF2A,Pol2-4H8,eGFP-JunB,c-Jun,TAF1,ZEB1_(SC-25388),RFX5_(N-494),HMGN3,BCL3,NFKB,IRF4_(M-17),Pbx3,E2F1,BCLAF1_(M33-P5B11),GATA-1,ELF1_(SC-631),HEY1,KAP1,ETS1,HNF4G_(SC-6558),USF1_(SC-8983),FOXA1_(SC-101058),GATA2_(CG2-96),GATA-2,CHD2_(N-1250),FOSL2,FOXA1_(C-20),Pol2,POU5F1_(SC-9081),Pol2(phosphoS2),USF-1,POU2F2,GTF2B,CTCF,MafK_(ab50322),HDAC2_(SC-6296),TCF12,p300,TAF7_(SQ-8) 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 1103 19 15227030 15227030 G A exonic ILVBL NA synonymous SNV ILVBL:NM_006844:exon12:c.C1404T:p.G468G exonic ENSG00000105135 NA synonymous SNV ENSG00000105135:ENST00000534378:exon11:c.C1083T:p.G361G,ENSG00000105135:ENST00000263383:exon12:c.C1404T:p.G468G NA NA 19p13.12 Score=964;Name=V$MZF1_01 Name=Pol2-4H8 NA NA rs2074263 0.66 0.66 0.688 0.631789 0.7147 0.5417 0.6427 0.7269 0.5031 0.71 0.55 0.67 0.71 0.6649 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.874234 NA NA 0.717907 0.703224 NA 0.681 NA 5.5691596 1103 11 68671419 68671419 C T UTR5 IGHMBP2 NM_002180:c.-2C>T NA NA UTR5 ENSG00000132740 ENST00000255078:c.-2C>T,ENST00000544541:c.-2C>T,ENST00000539224:c.-2C>T,ENST00000545146:c.-2C>T NA NA NA NA 11q13.3 NA Name=ZNF263,GTF2F1_(RAP-74),MafK_(SC-477),JunD,SMC3_(ab9263),ELK4,PAX5-N19,CCNT2,TBP,ERRA,Egr-1,BRCA1_(C-1863),YY1,NANOG_(SC-33759),ZBTB7A_(SC-34508),GATA3_(SC-268),THAP1_(SC-98174),Sin3Ak-20,RXRA,E2F4,SIX5,eGFP-JunD,MEF2C_(SC-13268),Mxi1_(bHLH),NRSF,Max,TCF4,YY1_(C-20),c-Myc,Rad21,Oct-2,BATF,SRF,SP1,HEY1,STAT1,ELF1_(SC-631),ETS1,ZZZ3,BCLAF1_(M33-P5B11),ZEB1_(SC-25388),HMGN3,TAF1,IRF4_(M-17),NFKB,Znf143_(16618-1-AP),Pol2-4H8,GABP,MEF2A,Ini1,p300,TCF12,E2F6,POU2F2,E2F6_(H-50),Pol2,FOXA1_(C-20),FOSL2,USF-1,USF1_(SC-8983),FOXA1_(SC-101058) Name=146 NA rs4930624 0.16 0.16 0.143 0.116014 0.2714 0.0149 0.1859 0.0915 0.044 0.27 0.02 0.2 0.11 0.2481 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.210331 2.210331 NA 0.244801 0.099191 NA 0.275 NA 5.5690324 1103 1 86947975 86947975 A T exonic CLCA1 NA synonymous SNV CLCA1:NM_001285:exon5:c.A645T:p.V215V exonic ENSG00000016490 NA synonymous SNV ENSG00000016490:ENST00000394711:exon5:c.A645T:p.V215V,ENSG00000016490:ENST00000234701:exon6:c.A645T:p.V215V NA NA 1p22.3 NA NA Name=7 NA rs1321694 0.38 0.38 0.366 0.367612 0.3728 0.505 0.2939 0.2443 0.4397 0.37 0.53 0.31 0.28 0.3709 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387758 NA NA 0.353953 0.253291 NA 0.362 NA 5.5690136 1103 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 1103 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 1103 5 52379277 52379277 C T exonic ITGA2 NA synonymous SNV ITGA2:NM_002203:exon27:c.C3252T:p.F1084F exonic ENSG00000164171 NA synonymous SNV ENSG00000164171:ENST00000296585:exon27:c.C3252T:p.F1084F Score=499;Name=lod=142 NA 5q11.2 NA NA NA NA rs2303122 0.35 0.35 0.323 0.331869 0.3708 0.2946 0.4323 0.2806 0.3282 0.38 0.34 0.43 0.27 0.3631 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113204 NA NA 0.364884 0.298684 NA 0.399 NA 5.5678826 1103 14 88429690 88429690 A G intronic GALC NA NA NA intronic ENSG00000054983 NA NA NA NA NA 14q31.3 NA NA NA NA rs17687109 0.09 0.09 0.074 0.0794728 0.159 0.005 0.1657 0.0174 0.0971 0.17 0.0035 0.15 0.02 0.125 0.17 0.11 T 0.32 B 0.102 B . . 1.000 P . . . . -1.037 T 0.000 T . -0.353 2.331 -4.24 -0.692 -0.039 2.799 -0.353377 NA 0.02 0.148221 0.044432 NA 0.065 NA 5.567779 1103 1 17313454 17313454 G A intronic ATP13A2 NA NA NA ncRNA_intronic ENSG00000226526 NA NA NA Score=444;Name=lod=85 NA 1p36.13 NA NA NA NA rs7531163 0.33 0.33 0.257 0.30651 0.2525 0.5774 0.3646 0.1467 0.2577 0.24 0.56 0.38 0.15 0.2739 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.088201 NA NA 0.239186 0.168634 NA 0.109 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116440.1;CLNDSDB=.;CLNDSDBID=. 5.5677473 1103 11 108381644 108381644 T C exonic EXPH5 NA synonymous SNV EXPH5:NM_015065:exon6:c.A4590G:p.L1530L exonic ENSG00000110723 NA synonymous SNV ENSG00000110723:ENST00000443411:exon3:c.A4026G:p.L1342L,ENSG00000110723:ENST00000265843:exon6:c.A4590G:p.L1530L,ENSG00000110723:ENST00000428840:exon6:c.A4362G:p.L1454L,ENSG00000110723:ENST00000526312:exon6:c.A4362G:p.L1454L,ENSG00000110723:ENST00000525344:exon7:c.A4569G:p.L1523L NA NA 11q22.3 NA NA NA NA rs79942405 0.02 0.02 0.015 0.0191693 0.0338 0.001 0.0101 0.0015 0.0532 0.04 0.0017 0.01 0.0041 0.0296 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 -0.258027 NA NA 0.035831 0.00886 NA 0.036 NA 5.5674356 1103 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$CEBP_C NA NA NA rs2234456 0.23 0.23 0.195 0.188898 0.3837 0.0526 0.3314 0.0575 0.2055 0.38 0.07 0.34 0.09 0.3154 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.210114 NA NA 0.400861 0.104498 NA 0.268 NA 5.5667056 1103 15 51634255 51634255 T G intronic GLDN NA NA NA intronic ENSG00000186417 NA NA NA Score=549;Name=lod=227 NA 15q21.2 NA Name=CTCF Name=35 NA rs2446421 0.61 0.61 0.618 0.630791 0.4811 0.5476 0.6254 0.9115 0.4949 0.47 0.58 0.57 0.89 0.4975 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.003218 2.003218 NA 0.454939 0.829238 NA 0.572 NA 5.566461 1103 3 123411589 123411589 G A exonic MYLK NA synonymous SNV MYLK:NM_053026:exon18:c.C3351T:p.T1117T,MYLK:NM_053028:exon18:c.C3351T:p.T1117T,MYLK:NM_053025:exon19:c.C3558T:p.T1186T,MYLK:NM_053027:exon19:c.C3558T:p.T1186T exonic ENSG00000065534 NA synonymous SNV ENSG00000065534:ENST00000475616:exon16:c.C3558T:p.T1186T,ENSG00000065534:ENST00000346322:exon18:c.C3351T:p.T1117T,ENSG00000065534:ENST00000359169:exon19:c.C3558T:p.T1186T,ENSG00000065534:ENST00000360304:exon19:c.C3558T:p.T1186T,ENSG00000065534:ENST00000360772:exon20:c.C3558T:p.T1186T Score=468;Name=lod=106 NA 3q21.1 Score=802;Name=V$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 1103 9 119158814 119158814 T C exonic PAPPA NA synonymous SNV PAPPA:NM_002581:exon22:c.T4803C:p.D1601D exonic ENSG00000182752 NA synonymous SNV ENSG00000182752:ENST00000534838:exon16:c.T1917C:p.D639D,ENSG00000182752:ENST00000328252:exon22:c.T4803C:p.D1601D Score=621;Name=lod=445 NA 9q33.1 Score=770;Name=V$PPARG_01 NA NA NA rs8456 0.67 0.67 0.639 0.672324 0.6938 0.6438 0.7349 0.5703 0.773 0.7 0.66 0.72 0.59 0.6967 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.622866 NA NA 0.71 0.580799 NA 0.652 NA 5.5661666 1103 4 77065580 77065580 T C exonic NUP54 NA synonymous SNV NUP54:NM_017426:exon2:c.A114G:p.A38A exonic ENSG00000138750 NA nonsynonymous SNV ENSG00000138750:ENST00000502850:exon4:c.A299G:p.H100R NA NA 4q21.1 NA NA NA NA rs11558469 0.17 0.17 0.165 0.154952 0.1312 0.3512 0.1282 0.0567 0.1288 0.13 0.35 0.13 0.06 0.1516 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.244867 1.244867 NA 0.151047 0.069905 ID=COSM149697;OCCURENCE=1(stomach) 0.116 NA 5.566153 1103 17 67081130 67081130 T A intronic ABCA6 NA NA NA intronic ENSG00000154262 NA NA NA NA NA 17q24.2 NA Name=CTCF,Rad21,c-Myc,TBP Name=24 NA rs62082718 0.07 0.07 0.064 0.0642971 0.168 0.006 0.0836 0.0098 0.0777 0.16 0.0035 0.07 0.01 0.1155 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.029344 NA NA 0.15093 0.03813 NA 0.043 NA 5.56557 1103 6 33037080 33037080 G A intronic HLA-DPA1 NA NA NA intronic ENSG00000231389 NA NA NA Score=529;Name=lod=189 NA 6p21.32 NA Name=Pol2-4H8 NA NA rs73739671 0.39 0.39 0.015 0.439097 0.1889 0.6796 0.2839 0.5809 0.3671 0.17 0.64 0.25 0.53 0.2442 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.135934 NA NA 0.001478 0.015252 NA NA NA 5.565422 1103 13 46562935 46562935 A G exonic ZC3H13 NA synonymous SNV ZC3H13:NM_015070:exon9:c.T1242C:p.H414H exonic ENSG00000123200 NA synonymous SNV ENSG00000123200:ENST00000242848:exon9:c.T1242C:p.H414H,ENSG00000123200:ENST00000282007:exon9:c.T1242C:p.H414H Score=536;Name=lod=202 NA 13q14.13 Score=788;Name=V$COMP1_01 NA NA NA rs1134071 0.79 0.79 0.82 0.782149 0.6809 0.8046 0.768 0.9024 0.7106 0.7 0.84 0.77 0.9 0.7318 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 0.924412 NA NA 0.688837 0.854063 NA 0.725 NA 5.5651296 1104 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,HA-E2F1,Pol2 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 1104 16 1962047 1962047 G A exonic HS3ST6 NA synonymous SNV HS3ST6:NM_001009606:exon2:c.C480T:p.Y160Y exonic ENSG00000162040 NA synonymous SNV ENSG00000162040:ENST00000293937:exon2:c.C573T:p.Y191Y,ENSG00000162040:ENST00000443547:exon2:c.C480T:p.Y160Y,ENSG00000162040:ENST00000454677:exon2:c.C624T:p.Y208Y Score=385;Name=lod=49 NA 16p13.3 NA NA NA NA rs1657140 0.35 0.35 0.31 0.391573 0.3767 0.4643 0.3386 0.2345 0.5818 0.37 0.47 0.3 0.2 0.3804 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.803263 NA NA 0.345321 0.224122 NA NA NA 5.5642456 1104 1 86375654 86375654 C G exonic COL24A1 NA synonymous SNV COL24A1:NM_152890:exon26:c.G2649C:p.P883P exonic ENSG00000171502 NA synonymous SNV ENSG00000171502:ENST00000370571:exon26:c.G2649C:p.P883P,ENSG00000171502:ENST00000436319:exon26:c.G2649C:p.P883P Score=425;Name=lod=71 NA 1p22.3 Score=767;Name=V$E2F_01 NA NA NA rs1502657 0.72 0.72 0.706 0.691893 0.7008 0.8026 0.7795 0.5696 0.6718 0.69 0.8 0.77 0.62 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 0.755952 NA NA 0.698384 0.621483 NA 0.638 NA 5.5630826 1104 19 39329517 39329517 C T intronic HNRNPL NA NA NA intronic ENSG00000104824,ENSG00000268083 NA NA NA NA NA 19q13.2 NA Name=Pol2(b),Rad21,STAT3,Pol2-4H8,Pol2,CTCF 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 1104 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 1104 9 131670952 131670952 C T exonic LRRC8A NA synonymous SNV LRRC8A:NM_001127245:exon2:c.C1509T:p.T503T,LRRC8A:NM_001127244:exon3:c.C1509T:p.T503T,LRRC8A:NM_019594:exon3:c.C1509T:p.T503T exonic ENSG00000136802 NA synonymous SNV ENSG00000136802:ENST00000372599:exon2:c.C1509T:p.T503T,ENSG00000136802:ENST00000259324:exon3:c.C1509T:p.T503T,ENSG00000136802:ENST00000372600:exon3:c.C1509T:p.T503T NA NA 9q34.11 NA NA NA NA rs3750318 0.04 0.04 0.026 0.0305511 0.0417 0.0536 0.0403 0.0015 0.0276 0.04 0.06 0.05 0.0041 0.0367 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 -0.552664 NA NA 0.026395 0.007036 NA 0.101 NA 5.5618716 1104 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 1104 11 66329639 66329639 G A exonic ACTN3 NA unknown UNKNOWN exonic ENSG00000248746 NA unknown UNKNOWN Score=701;Name=lod=945 NA 11q13.2 NA NA NA NA rs77239910 0.08 0.08 0.072 0.0804712 0.1561 0.0228 0.0821 0.0151 0.1493 0.16 0.01 0.1 0.02 0.1236 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.367446 2.367446 NA 0.15863 0.034106 NA 0.058 NA 5.56167 1104 17 72351406 72351406 C T exonic KIF19 NA synonymous SNV KIF19:NM_153209:exon20:c.C2952T:p.H984H exonic ENSG00000196169 NA synonymous SNV ENSG00000196169:ENST00000389916:exon20:c.C2952T:p.H984H NA NA 17q25.1 Score=906;Name=V$ZID_01 NA NA NA rs2271536 0.33 0.33 0.326 0.350839 0.3598 0.4077 0.3804 0.2163 0.4438 0.36 0.35 0.38 0.24 0.3781 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753463 NA NA 0.367144 0.254815 NA 0.261 NA 5.5616226 1104 15 90768959 90768959 A C exonic SEMA4B NA synonymous SNV SEMA4B:NM_198925:exon12:c.A1588C:p.R530R,SEMA4B:NM_020210:exon13:c.A1588C:p.R530R exonic ENSG00000185033 NA synonymous SNV ENSG00000185033:ENST00000411539:exon12:c.A1588C:p.R530R,ENSG00000185033:ENST00000332496:exon13:c.A1588C:p.R530R,ENSG00000185033:ENST00000379122:exon13:c.A1573C:p.R525R Score=468;Name=lod=106 NA 15q26.1 NA NA NA NA rs908044 0.37 0.37 0.353 0.358227 0.3628 0.1002 0.3026 0.6997 0.1973 0.37 0.11 0.34 0.69 0.4015 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 1.459933 1.459933 NA 0.340811 0.623736 NA 0.486 NA 5.5615556 1104 19 4180836 4180836 C T exonic SIRT6 NA nonsynonymous SNV SIRT6:NM_001193285:exon2:c.G137A:p.S46N,SIRT6:NM_016539:exon2:c.G137A:p.S46N exonic ENSG00000077463 NA nonsynonymous SNV ENSG00000077463:ENST00000305232:exon2:c.G137A:p.S46N,ENSG00000077463:ENST00000337491:exon2:c.G137A:p.S46N,ENSG00000077463:ENST00000597896:exon2:c.G98A:p.S33N,ENSG00000077463:ENST00000601488:exon2:c.G137A:p.S46N,ENSG00000077463:ENST00000601571:exon2:c.G131A:p.S44N NA NA 19p13.3 NA NA NA NA rs352493 0.86 0.86 0.903 0.840855 0.9344 0.7093 0.7795 0.938 0.7924 0.93 0.73 0.82 0.93 0.8903 0.95 0.53 T 0.0 B 0.001 B 0.248 N 1.000 P -0.725 N 2.4 T -1.056 T 0.000 T 0.032 -0.142 3.305 1.48 -0.355 1.559 5.273 -0.142123 NA 0.28 0.947326 0.935769 ID=COSM439586;OCCURENCE=1(breast) 0.928 NA 5.5613074 1104 9 114359624 114359624 C A exonic PTGR1 NA nonsynonymous SNV PTGR1:NM_001146108:exon2:c.G79T:p.A27S,PTGR1:NM_001146109:exon2:c.G79T:p.A27S,PTGR1:NM_012212:exon2:c.G79T:p.A27S exonic ENSG00000106853 NA nonsynonymous SNV ENSG00000106853:ENST00000374324:exon1:c.G79T:p.A27S,ENSG00000106853:ENST00000309195:exon2:c.G79T:p.A27S,ENSG00000106853:ENST00000407693:exon2:c.G79T:p.A27S,ENSG00000106853:ENST00000422125:exon2:c.G79T:p.A27S,ENSG00000106853:ENST00000538962:exon2:c.G79T:p.A27S NA NA 9q31.3 NA NA NA NA rs1053959 0.59 0.59 0.577 0.597843 0.5696 0.6587 0.5836 0.5492 0.6401 0.58 0.6 0.59 0.58 0.601 0.62 0.68 T 0.019 B 0.03 B 0.202 N 1.000 P 0.56 N 0.97 T -0.935 T 0.000 T 0.167 1.153 9.694 -0.431 -0.078 0.091 8.686 1.152557 NA 0.62 0.601512 0.560826 NA 0.594 NA 5.5612214 1104 19 35450111 35450111 C T exonic ZNF792 NA synonymous SNV ZNF792:NM_175872:exon4:c.G648A:p.G216G exonic ENSG00000180884 NA synonymous SNV ENSG00000180884:ENST00000605484:exon2:c.G447A:p.G149G,ENSG00000180884:ENST00000404801:exon4:c.G648A:p.G216G NA NA 19q13.11 NA NA NA NA rs35715851 0.02 0.02 0.019 0.014377 0.0527 NA 0.0216 0.0015 0.002 0.05 NA 0.03 0.0041 0.0244 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 0.028466 NA NA 0.028837 0.004993 NA NA NA 5.5607296 1104 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$SPZ1_01 NA NA NA rs12488126 0.22 0.22 0.177 0.188698 0.4066 0.0208 0.3602 0.0514 0.2014 0.39 0.02 0.39 0.06 0.3106 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406518 NA NA 0.38991 0.098912 NA 0.261 NA 5.5595566 1104 6 20115611 20115611 T C intronic MBOAT1 NA NA NA intronic ENSG00000172197 NA NA NA Score=630;Name=lod=486 NA 6p22.3 Score=863;Name=V$GATA1_02 NA NA NA rs76188572 0.1 0.1 0.097 0.0844649 0.1541 0.1131 0.0793 0.0083 0.09 0.14 0.13 0.1 0.01 0.1248 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.82378 4.82378 NA 0.161703 0.033137 NA 0.051 NA 5.559397 1104 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 1104 2 208841964 208841964 A G exonic PLEKHM3 NA synonymous SNV PLEKHM3:NM_001080475:exon3:c.T957C:p.N319N exonic ENSG00000178385 NA synonymous SNV ENSG00000178385:ENST00000389247:exon3:c.T957C:p.N319N,ENSG00000178385:ENST00000427836:exon3:c.T957C:p.N319N,ENSG00000178385:ENST00000457206:exon3:c.T957C:p.N319N NA NA 2q33.3 NA NA NA NA rs4441448 0.62 0.62 0.597 0.569688 0.7356 0.4702 0.6599 0.5749 0.4305 0.74 0.46 0.67 0.61 0.6571 0.74 . . . . . . . . 1.000 P . . . . . . . . . -1.599 0.014 -11.2 -2.726 -0.492 1.163 -1.598639 NA NA 0.71505 0.608095 NA 0.565 NA 5.5589166 1104 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 1104 20 259818 259818 G A exonic C20orf96 NA synonymous SNV C20orf96:NM_080571:exon5:c.C457T:p.L153L,C20orf96:NM_153269:exon5:c.C460T:p.L154L exonic ENSG00000196476 NA synonymous SNV ENSG00000196476:ENST00000382369:exon3:c.C355T:p.L119L,ENSG00000196476:ENST00000400269:exon3:c.C286T:p.L96L,ENSG00000196476:ENST00000360321:exon5:c.C460T:p.L154L NA NA 20p13 NA NA Name=49 NA rs6035541 0.31 0.31 0.301 0.297524 0.3559 0.3304 0.2622 0.2088 0.3487 0.36 0.35 0.29 0.2 0.37 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.230108 NA NA 0.382093 0.233772 ID=COSM443588;OCCURENCE=1(breast) NA NA 5.5586736 1104 14 52182081 52182081 T A exonic FRMD6 NA synonymous SNV FRMD6:NM_001267046:exon10:c.T888A:p.S296S,FRMD6:NM_152330:exon10:c.T864A:p.S288S,FRMD6:NM_001042481:exon11:c.T864A:p.S288S exonic ENSG00000139926 NA synonymous SNV ENSG00000139926:ENST00000555197:exon2:c.T78A:p.S26S,ENSG00000139926:ENST00000554167:exon8:c.T657A:p.S219S,ENSG00000139926:ENST00000344768:exon10:c.T888A:p.S296S,ENSG00000139926:ENST00000395718:exon10:c.T864A:p.S288S,ENSG00000139926:ENST00000356218:exon11:c.T864A:p.S288S NA NA 14q22.1 NA Name=ELF1_(SC-631) Name=6 NA rs731715 0.69 0.69 0.692 0.669529 0.7187 0.628 0.6888 0.6899 0.6207 0.72 0.66 0.66 0.68 0.6817 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.424055 NA NA 0.707674 0.687245 NA 0.667 NA 5.5585926 1104 11 62105441 62105441 T C UTR5 ASRGL1 NM_001083926:c.-9T>C,NM_025080:c.-9T>C NA NA ncRNA_exonic ENSG00000255118 NA NA NA NA NA 11q12.3 Score=792;Name=V$MIF1_01 NA Name=29 NA rs3741245 0.27 0.27 0.246 0.282548 0.2893 0.2331 0.2752 0.2526 0.3722 0.29 0.27 0.25 0.26 0.397 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.639296 1.639296 NA 0.255123 0.258299 NA 0.268 NA 5.558577 1104 16 72137561 72137561 G A exonic DHX38 NA synonymous SNV DHX38:NM_014003:exon13:c.G1698A:p.T566T exonic ENSG00000140829 NA synonymous SNV ENSG00000140829:ENST00000268482:exon13:c.G1698A:p.T566T NA NA 16q22.2 Score=943;Name=V$AP1FJ_Q2 NA NA NA rs2240243 0.43 0.43 0.459 0.472843 0.3519 0.3105 0.3112 0.7814 0.4622 0.34 0.33 0.34 0.75 0.3878 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 0.813389 NA NA 0.368605 0.690855 NA 0.478 NA 5.5583616 1104 3 37033462 37033462 T G exonic EPM2AIP1 NA synonymous SNV EPM2AIP1:NM_014805:exon1:c.A1107C:p.T369T exonic ENSG00000178567 NA synonymous SNV ENSG00000178567:ENST00000322716:exon1:c.A1107C:p.T369T NA NA 3p22.2 NA NA NA NA rs4647200 0.01 0.01 0.011 0.0081869 0.0308 NA 0.0086 0.0015 0.002 0.04 NA 0.01 0.002 0.0282 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 0.316011 NA NA 0.049369 0.006864 NA 0.014 NA 5.5582976 1104 14 75279395 75279395 T A exonic YLPM1 NA synonymous SNV YLPM1:NM_019589:exon11:c.T5412A:p.P1804P exonic ENSG00000119596 NA synonymous SNV ENSG00000119596:ENST00000547879:exon5:c.T639A:p.P213P,ENSG00000119596:ENST00000549293:exon8:c.T4071A:p.P1357P,ENSG00000119596:ENST00000552421:exon10:c.T3294A:p.P1098P,ENSG00000119596:ENST00000238571:exon11:c.T4827A:p.P1609P,ENSG00000119596:ENST00000325680:exon11:c.T5412A:p.P1804P Score=579;Name=lod=302 NA 14q24.3 Score=760;Name=V$MYOGNF1_01 NA NA NA rs2302834 0.72 0.72 0.731 0.728235 0.7048 0.7986 0.7594 0.6891 0.7106 0.7 0.77 0.72 0.68 0.7058 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.578856 1.578856 NA 0.698379 0.705677 NA 0.804 NA 5.5576876 1104 19 8961981 8961981 C G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon83:c.G43396C:p.V14466L exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000380951:exon35:c.G3319C:p.V1107L,ENSG00000181143:ENST00000397910:exon83:c.G43396C:p.V14466L NA NA 19p13.2 Score=804;Name=V$ARNT_02 NA NA NA rs1035442 0.91 0.91 0.915 0.911741 0.9235 0.9107 0.8602 0.9115 0.9376 0.91 0.92 0.9 0.9 0.9214 0.93 1 T 0.0 B 0.0 B . . . . -2.125 N 4.75 T -1.009 T 0.000 T 0.045 -2.553 0.003 -0.191 -0.213 0.187 0.997 -2.553362 NA NA 0.931055 0.915165 NA 0.906 NA 5.5573784 1104 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 1104 18 21017836 21017836 T C UTR5 TMEM241 NM_032933:c.-20A>G NA NA UTR5 ENSG00000134490 ENST00000450466:c.-61026A>G,ENST00000581444:c.-20A>G,ENST00000473688:c.-20A>G,ENST00000477053:c.-20A>G,ENST00000383233:c.-20A>G,ENST00000460322:c.-20A>G,ENST00000578520:c.-20A>G,ENST00000482411:c.-20A>G,ENST00000497608:c.-20A>G,ENST00000582336:c.-20A>G,ENST00000580025:c.-20A>G,ENST00000399707:c.-20A>G NA NA NA NA 18q11.2 NA Name=ATF3,ELF1_(SC-631),HEY1,Pol2-4H8,TAF1,HMGN3,ZEB1_(SC-25388),E2F6,E2F6_(H-50),Ini1,USF1_(SC-8983),USF2,Pol2,USF-1,ZNF263,c-Fos,Sin3Ak-20,SP1,IRF1,Max Name=143 NA rs7226498 0.92 0.92 0.924 0.916933 0.9195 0.9435 0.9611 0.9622 0.7945 0.88 0.94 0.91 0.94 0.9249 0.95 0 D . . . . . . 1.000 P . . . . -1.028 T 0.000 T . 1.453 10.8 0.113 -0.423 0.020 8.008 1.453278 1.453278 NA 0.932907 0.95438 NA 0.913 NA 5.5560264 1104 1 31349642 31349642 C T exonic SDC3 NA synonymous SNV SDC3:NM_014654:exon3:c.G627A:p.R209R exonic ENSG00000162512 NA synonymous SNV ENSG00000162512:ENST00000336798:exon1:c.G453A:p.R151R,ENSG00000162512:ENST00000339394:exon3:c.G627A:p.R209R NA NA 1p35.2 NA NA NA NA rs41269521 0.03 0.03 0.017 0.014976 0.0427 NA 0.0331 0.0015 0.0072 0.05 0.01 0.04 0.02 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 -0.234119 NA NA 0.039893 0.007944 NA 0.029 NA 5.5551736 1105 3 48625266 48625266 T C exonic COL7A1 NA synonymous SNV COL7A1:NM_000094:exon21:c.A2817G:p.P939P exonic ENSG00000114270 NA synonymous SNV ENSG00000114270:ENST00000328333:exon21:c.A2817G:p.P939P,ENSG00000114270:ENST00000454817:exon21:c.A2817G:p.P939P NA NA 3p21.31 NA Name=Pol2 Name=2 NA rs1264194 0.66 0.66 0.687 0.68111 0.7237 0.3948 0.5922 0.9395 0.6462 0.72 0.38 0.6 0.92 0.6799 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 -1.364817 NA NA 0.708256 0.901271 ID=COSM446657;OCCURENCE=1(breast) 0.732 NA 5.5548106 1105 11 119510644 119510644 A C exonic PVRL1 NA nonsynonymous SNV PVRL1:NM_203285:exon6:c.T1082G:p.V361G exonic ENSG00000110400 NA nonsynonymous SNV ENSG00000110400:ENST00000341398:exon6:c.T1082G:p.V361G NA NA 11q23.3 NA NA Name=3 NA rs7940667 0.87 0.87 0.837 0.872804 0.9314 0.9306 0.9366 0.6657 0.9877 0.93 0.94 0.94 0.66 0.9164 0.94 0.13 T 0.0 B 0.001 B . . 1.000 P -1.935 N -0.93 T -0.973 T 0.000 T 0.03 -0.392 2.163 1.69 0.388 0.068 6.724 -0.391644 NA 0.1 0.930733 0.733288 NA 0.848 NA 5.5548004 1105 15 100821467 100821467 G A exonic ADAMTS17 NA synonymous SNV ADAMTS17:NM_139057:exon4:c.C756T:p.A252A exonic ENSG00000140470 NA synonymous SNV ENSG00000140470:ENST00000268070:exon4:c.C756T:p.A252A NA NA 15q26.3 Score=821;Name=V$HNF4_01_B NA NA NA rs7496640 0.45 0.45 0.39 0.5 0.3499 0.505 0.5605 0.5 0.6063 0.34 0.49 0.51 0.52 0.4296 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.609013 1.609013 NA 0.332791 0.486836 ID=COSM433587;OCCURENCE=1(breast) 0.486 NA 5.5543756 1105 16 31154146 31154146 G A exonic PRSS36 NA synonymous SNV PRSS36:NM_001258290:exon9:c.C1269T:p.S423S,PRSS36:NM_001258291:exon9:c.C1269T:p.S423S,PRSS36:NM_173502:exon9:c.C1269T:p.S423S exonic ENSG00000178226 NA synonymous SNV ENSG00000178226:ENST00000268281:exon9:c.C1269T:p.S423S,ENSG00000178226:ENST00000418068:exon9:c.C1269T:p.S423S,ENSG00000178226:ENST00000569305:exon9:c.C1269T:p.S423S NA NA 16p11.2 NA Name=Pol2,HA-E2F1,E2F6,E2F6_(H-50),HMGN3,c-Myc Name=8 NA rs1549299 0.62 0.62 0.643 0.488618 0.6978 0.8909 0.5519 0.1573 0.2618 0.7 0.92 0.59 0.18 0.6873 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 1.339058 1.339058 NA 0.727251 0.268453 NA 0.333 NA 5.5543156 1105 6 129807699 129807699 G C exonic LAMA2 NA synonymous SNV LAMA2:NM_001079823:exon55:c.G7818C:p.V2606V,LAMA2:NM_000426:exon56:c.G7830C:p.V2610V exonic ENSG00000196569 NA synonymous SNV ENSG00000196569:ENST00000421865:exon56:c.G7830C:p.V2610V NA NA 6q22.33 NA NA Name=7 NA rs2229849 0.6 0.6 0.597 0.584265 0.7177 0.6369 0.6239 0.4115 0.5982 0.71 0.59 0.64 0.43 0.6682 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 -0.899665 NA NA 0.726628 0.470949 NA 0.536 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078800.2;CLNDSDB=.;CLNDSDBID=. 5.5541386 1105 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=Pol2,HA-E2F1,c-Myc 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 1105 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),Pol2-4H8,ELF1_(SC-631) 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 1105 11 7950024 7950024 A G exonic OR10A6 NA synonymous SNV OR10A6:NM_001004461:exon1:c.T186C:p.F62F exonic ENSG00000175393 NA synonymous SNV ENSG00000175393:ENST00000309838:exon1:c.T186C:p.F62F Score=419;Name=lod=67 NA 11p15.4 NA NA NA NA rs12272735 0.34 0.34 0.313 0.333267 0.3718 0.2698 0.4568 0.2617 0.3681 0.38 0.3 0.43 0.26 0.3647 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45245 NA NA 0.37628 0.285552 NA 0.326 NA 5.5538866 1105 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 1105 16 31483622 31483622 C T intronic TGFB1I1 NA NA NA intronic ENSG00000140682 NA NA NA NA NA 16p11.2 NA Name=Pol2,ZNF263 Name=22 NA rs11646911 0.39 0.39 0.35 0.304313 0.4463 0.4494 0.5735 0.0514 0.1595 0.45 0.48 0.58 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 3.025022 3.025022 NA NA NA NA 0.297 NA 5.5537 1105 19 16860602 16860602 T C exonic NWD1 NA synonymous SNV NWD1:NM_001007525:exon6:c.T1149C:p.R383R exonic ENSG00000188039 NA synonymous SNV ENSG00000188039:ENST00000339803:exon2:c.T744C:p.R248R,ENSG00000188039:ENST00000379808:exon4:c.T1149C:p.R383R,ENSG00000188039:ENST00000552788:exon4:c.T1149C:p.R383R,ENSG00000188039:ENST00000523826:exon5:c.T531C:p.R177R,ENSG00000188039:ENST00000549814:exon5:c.T1149C:p.R383R,ENSG00000188039:ENST00000524140:exon6:c.T1149C:p.R383R NA NA 19p13.11 NA NA NA NA rs61731252 0.06 0.06 0.051 0.0672923 0.0288 0.0079 0.0274 0.1838 0.0389 0.03 0.0017 0.04 0.18 0.0471 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.21813 NA NA 0.037209 0.166364 NA 0.043 NA 5.5535576 1105 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 1105 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 1105 3 187009412 187009412 G A intronic MASP1 NA NA NA intronic ENSG00000127241 NA NA NA Score=425;Name=lod=71 NA 3q27.3 NA Name=ZNF263,CtBP2 NA NA rs72549254 0.16 0.16 0.165 0.165935 0.1392 0.1171 0.1542 0.2186 0.181 0.13 0.13 0.17 0.25 0.153 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.552127 1.552127 NA 0.155 0.208125 NA 0.181 NA 5.5528 1105 3 122354037 122354037 A G exonic PARP15 NA synonymous SNV PARP15:NM_152615:exon7:c.A1041G:p.K347K,PARP15:NM_001113523:exon11:c.A1743G:p.K581K exonic ENSG00000173200 NA synonymous SNV ENSG00000173200:ENST00000493645:exon6:c.A834G:p.K278K,ENSG00000173200:ENST00000310366:exon7:c.A1041G:p.K347K,ENSG00000173200:ENST00000483793:exon8:c.A1158G:p.K386K,ENSG00000173200:ENST00000464300:exon11:c.A1743G:p.K581K Score=473;Name=lod=112 NA 3q21.1 NA NA NA NA rs1106346 0.38 0.38 0.375 0.358227 0.3787 0.5 0.3876 0.2557 0.3088 0.39 0.51 0.38 0.23 0.3685 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.063052 NA NA 0.36686 0.263958 NA 0.362 NA 5.5526066 1105 19 7694393 7694393 G A exonic XAB2 NA synonymous SNV XAB2:NM_020196:exon1:c.C21T:p.L7L exonic ENSG00000076924 NA synonymous SNV ENSG00000076924:ENST00000358368:exon1:c.C21T:p.L7L,ENSG00000076924:ENST00000534844:exon1:c.C12T:p.L4L NA NA 19p13.2 NA Name=Pol2(phosphoS2),Pol2,ATF3,NF-YA,HEY1,Pol2-4H8,TAF1,PAX5-C20,Sin3Ak-20,SRF,YY1_(C-20),YY1,BRCA1_(C-1863),TBP,Pol2(b) NA NA rs4134809 0.27 0.27 0.28 0.263578 0.3777 0.2083 0.2219 0.2103 0.3047 0.38 0.21 0.24 0.21 0.3691 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.308781 NA NA 0.368017 0.208049 NA 0.406 NA 5.5518496 1105 3 38151731 38151731 T C exonic DLEC1 NA synonymous SNV DLEC1:NM_007335:exon23:c.T3402C:p.Y1134Y,DLEC1:NM_007337:exon23:c.T3402C:p.Y1134Y exonic ENSG00000008226 NA synonymous SNV ENSG00000008226:ENST00000308059:exon23:c.T3402C:p.Y1134Y,ENSG00000008226:ENST00000346219:exon23:c.T3402C:p.Y1134Y,ENSG00000008226:ENST00000452631:exon23:c.T3411C:p.Y1137Y Score=295;Name=lod=21 NA 3p22.2 NA NA NA NA rs12630114 0.47 0.47 0.463 0.457668 0.3628 0.6131 0.451 0.5673 0.2515 0.35 0.6 0.43 0.55 0.3868 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14105 NA NA 0.366475 0.530852 NA 0.464 NA 5.5505916 1105 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 1105 4 71339723 71339723 G A splicing MUC7 NA NA NA splicing ENSG00000171195 NA NA NA NA NA 4q13.3 NA NA Name=13 NA rs2306949 0.18 0.18 0.174 0.208666 0.1252 0.2044 0.1354 0.2844 0.2485 0.13 0.18 0.12 0.28 0.1689 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.918892 1.918892 NA 0.15593 0.274399 NA 0.174 NA 5.54997 1105 19 4217207 4217207 T G exonic ANKRD24 NA nonsynonymous SNV ANKRD24:NM_133475:exon18:c.T2050G:p.S684A exonic ENSG00000089847 NA nonsynonymous SNV ENSG00000089847:ENST00000262970:exon16:c.T2320G:p.S774A,ENSG00000089847:ENST00000597689:exon16:c.T1963G:p.S655A,ENSG00000089847:ENST00000318934:exon17:c.T2050G:p.S684A,ENSG00000089847:ENST00000600132:exon18:c.T2050G:p.S684A NA NA 19p13.3 NA Name=BAF155 NA NA rs353693 0.96 0.96 0.958 0.97504 0.9145 1 0.9582 0.9985 0.9918 0.91 1 0.94 1 0.9473 1 1 T 0.0 B 0.0 B 0.290 N 1.000 P -0.55 N 1.52 T -0.996 T 0.000 T 0.003 -0.965 0.315 1.09 -0.031 0.119 8.193 -0.965473 NA 1 0.921647 0.985628 NA 0.797 NA 5.5498864 1105 17 35378217 35378217 C A intronic AATF NA NA NA intronic ENSG00000108270 NA NA NA Score=265;Name=lod=16 NA 17q12 Score=792;Name=V$OCT1_04 NA NA NA rs2301686 0.14 0.14 0.144 0.126997 0.1441 0.131 0.0778 0.1853 0.0613 0.15 0.12 0.08 0.19 0.1499 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 0.35779 NA NA 0.156163 0.163867 NA 0.072 NA 5.549837 1105 5 180409462 180409462 C G intergenic BTNL8,BTNL3 dist=31556;dist=6383 NA NA ncRNA_exonic ENSG00000231228 NA NA NA Score=671;Name=lod=713 NA 5q35.3 NA NA Name=2 NA rs10057725 0.19 0.19 0.183 0.195088 0.1292 0.1161 0.098 0.3661 0.182 0.14 0.13 0.12 0.4 0.1629 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.024311 NA 1 0.158201 0.346528 NA 0.188 NA 5.549699 1105 16 56500176 56500176 T A exonic OGFOD1 NA synonymous SNV OGFOD1:NM_018233:exon5:c.T561A:p.I187I exonic ENSG00000087263 NA synonymous SNV ENSG00000087263:ENST00000561646:exon5:c.T396A:p.I132I,ENSG00000087263:ENST00000566157:exon5:c.T561A:p.I187I,ENSG00000087263:ENST00000568397:exon5:c.T561A:p.I187I NA NA 16q12.2 NA NA NA NA rs11544885 0.05 0.05 0.038 0.0605032 0.0268 0.1409 0.0403 0.0174 0.0849 0.03 0.12 0.04 0.02 0.0515 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 -0.698067 NA NA 0.038837 0.026615 NA 0.014 NA 5.5495296 1105 7 900035 900035 G A intronic SUN1 NA NA NA intronic ENSG00000164828 NA NA NA NA NA 7p22.3 NA Name=Egr-1 Name=3 NA rs4276575 0.13 0.13 0.109 0.111821 0.1491 0.001 0.1931 0.1687 0.0532 0.16 0.0017 0.21 0.17 0.1472 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.530264 NA NA 0.154552 0.190111 NA 0.225 NA 5.549148 1105 7 135292080 135292080 G A exonic NUP205 NA synonymous SNV NUP205:NM_015135:exon22:c.G3156A:p.A1052A exonic ENSG00000155561 NA synonymous SNV ENSG00000155561:ENST00000285968:exon22:c.G3156A:p.A1052A NA NA 7q33 NA NA NA NA rs61734146 0.03 0.03 0.029 0.0355431 0.0457 0.003 0.049 0.0356 0.0491 0.04 0.0035 0.05 0.03 0.0331 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 1.08227 NA NA 0.039651 0.034044 NA 0.065 NA 5.5482156 1105 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 1105 17 76503593 76503593 T C exonic DNAH17 NA nonsynonymous SNV DNAH17:NM_173628:exon28:c.A4531G:p.T1511A exonic ENSG00000187775 NA nonsynonymous SNV ENSG00000187775:ENST00000389840:exon28:c.A4519G:p.T1507A,ENSG00000187775:ENST00000585328:exon28:c.A4522G:p.T1508A NA NA 17q25.3 NA NA NA NA rs9896398 0.59 0.59 0.617 0.578474 0.5984 0.4653 0.4452 0.7375 0.5542 0.61 0.47 0.5 0.76 0.5737 0.76 0.8 T 0.0 B 0.0 B . . 1.000 P -1.185 N 0.2 T -0.968 T 0.000 T 0.023 -0.936 0.367 1.63 0.123 0.112 3.154 -0.936325 NA 0.9 0.613845 0.735731 ID=COSM148354;OCCURENCE=1(stomach) 0.667 NA 5.5473884 1105 5 79734297 79734297 T C exonic ZFYVE16 NA nonsynonymous SNV ZFYVE16:NM_014733:exon3:c.T1793C:p.I598T,ZFYVE16:NM_001105251:exon4:c.T1793C:p.I598T exonic ENSG00000039319 NA nonsynonymous SNV ENSG00000039319:ENST00000338008:exon3:c.T1793C:p.I598T,ENSG00000039319:ENST00000505560:exon4:c.T1793C:p.I598T,ENSG00000039319:ENST00000510158:exon4:c.T1793C:p.I598T NA NA 5q14.1 NA NA NA NA rs259028 0.88 0.88 0.878 0.853634 0.9334 0.9196 0.9294 0.6944 0.865 0.93 0.93 0.94 0.69 0.9097 0.94 1 T 0.0 B 0.0 B 0.004 N 1.000 P -1.1 N 1.35 T -0.955 T 0.000 T 0.161 -1.348 0.029 4.56 0.800 0.383 10.668 -1.347535 NA 1 0.943396 0.7199 NA 0.87 NA 5.5468374 1105 7 150695726 150695726 T C exonic NOS3 NA synonymous SNV NOS3:NM_001160109:exon6:c.T774C:p.D258D,NOS3:NM_001160110:exon6:c.T774C:p.D258D,NOS3:NM_001160111:exon6:c.T774C:p.D258D,NOS3:NM_000603:exon7:c.T774C:p.D258D exonic ENSG00000164867 NA synonymous SNV ENSG00000164867:ENST00000461406:exon4:c.T156C:p.D52D,ENSG00000164867:ENST00000467517:exon6:c.T774C:p.D258D,ENSG00000164867:ENST00000484524:exon6:c.T774C:p.D258D,ENSG00000164867:ENST00000297494:exon7:c.T774C:p.D258D Score=471;Name=lod=109 NA 7q36.1 Score=780;Name=V$MYOGNF1_01 NA NA NA rs1549758 0.78 0.78 0.769 0.817692 0.659 0.8135 0.7882 0.9206 0.8671 0.68 0.82 0.76 0.93 0.7701 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 -0.095992 NA NA 0.690822 0.881881 NA 0.623 NA 5.5467446 1105 10 43606687 43606687 A G exonic RET NA synonymous SNV RET:NM_020630:exon7:c.A1296G:p.A432A,RET:NM_020975:exon7:c.A1296G:p.A432A exonic ENSG00000165731 NA synonymous SNV ENSG00000165731:ENST00000340058:exon7:c.A1296G:p.A432A,ENSG00000165731:ENST00000355710:exon7:c.A1296G:p.A432A Score=483;Name=lod=123 NA 10q11.21 NA NA NA NA rs1800860 0.77 0.77 0.814 0.77516 0.7237 0.8006 0.6239 0.8903 0.7536 0.71 0.82 0.64 0.92 0.7061 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 -0.365368 NA NA 0.690233 0.86246 NA 0.674 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=single|single|single;CLNACC=RCV000082048.1|RCV000127778.1|RCV000131068.1;CLNDSDB=.|.|MedGen;CLNDSDBID=.|.|C0027672 5.5466336 1105 7 157000176 157000176 T C exonic UBE3C NA synonymous SNV UBE3C:NM_014671:exon12:c.T1503C:p.Y501Y exonic ENSG00000009335 NA synonymous SNV ENSG00000009335:ENST00000348165:exon12:c.T1503C:p.Y501Y Score=595;Name=lod=348 NA 7q36.3 NA NA NA NA rs2301914 0.49 0.49 0.512 0.509585 0.3648 0.4534 0.3934 0.8253 0.3722 0.33 0.48 0.43 0.8 0.4026 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 1.245485 1.245485 NA 0.352791 0.756695 NA 0.558 NA 5.5464756 1105 5 13829799 13829799 G A exonic DNAH5 NA synonymous SNV DNAH5:NM_001369:exon38:c.C6264T:p.A2088A exonic ENSG00000039139 NA synonymous SNV ENSG00000039139:ENST00000265104:exon38:c.C6264T:p.A2088A Score=549;Name=lod=228 NA 5p15.2 NA NA NA NA rs1348689 0.46 0.46 0.459 0.443291 0.3698 0.626 0.4207 0.4705 0.3098 0.38 0.59 0.39 0.5 0.3863 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.82125 NA NA 0.364535 0.456423 NA 0.514 NA 5.5460316 1105 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 1105 6 32190406 32190406 A G exonic NOTCH4 NA synonymous SNV NOTCH4:NM_004557:exon3:c.T333C:p.G111G exonic ENSG00000204301 NA synonymous SNV ENSG00000204301:ENST00000375023:exon3:c.T333C:p.G111G NA Name=Systemic sclerosis 6p21.32 NA NA NA NA rs443198 0.42 0.42 0.423 0.460663 0.3638 0.5615 0.3775 0.4705 0.502 0.36 0.54 0.38 0.42 0.3804 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.07465 NA NA 0.37686 0.456877 NA 0.471 NA 5.5456066 1105 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 1105 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 1106 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 1106 1 46521517 46521517 G A exonic PIK3R3 NA synonymous SNV PIK3R3:NM_003629:exon7:c.C891T:p.S297S,PIK3R3:NM_001114172:exon8:c.C891T:p.S297S exonic ENSG00000117461 NA synonymous SNV ENSG00000117461:ENST00000262741:exon7:c.C891T:p.S297S,ENSG00000117461:ENST00000540385:exon7:c.C1029T:p.S343S,ENSG00000117461:ENST00000372006:exon8:c.C891T:p.S297S,ENSG00000117461:ENST00000420542:exon8:c.C891T:p.S297S Score=730;Name=lod=1230 NA 1p34.1 Score=741;Name=V$PAX4_04 NA NA NA rs785468 0.68 0.68 0.669 0.637979 0.7336 0.6885 0.6254 0.5893 0.5624 0.73 0.68 0.67 0.6 0.681 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.045067 NA NA 0.707674 0.600999 NA 0.558 NA 5.5443926 1106 16 72139184 72139184 C A exonic DHX38 NA synonymous SNV DHX38:NM_014003:exon17:c.C2316A:p.A772A exonic ENSG00000140829 NA synonymous SNV ENSG00000140829:ENST00000562774:exon3:c.C306A:p.A102A,ENSG00000140829:ENST00000268482:exon17:c.C2316A:p.A772A Score=361;Name=lod=39 NA 16q22.2 NA NA NA NA rs2074626 0.43 0.43 0.449 0.476238 0.3559 0.3085 0.3156 0.7799 0.4765 0.35 0.33 0.35 0.75 0.3927 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15833 NA NA 0.373837 0.691993 ID=COSM1128887;OCCURENCE=1(prostate) 0.478 NA 5.5442296 1106 12 105434467 105434467 C T exonic ALDH1L2 NA synonymous SNV ALDH1L2:NM_001034173:exon16:c.G1869A:p.T623T exonic ENSG00000136010 NA synonymous SNV ENSG00000136010:ENST00000258494:exon16:c.G1869A:p.T623T NA NA 12q23.3 Score=849;Name=V$HMX1_01 NA NA NA rs11112330 0.26 0.26 0.258 0.304912 0.3748 0.2619 0.2622 0.1384 0.5327 0.36 0.26 0.23 0.13 0.3665 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.951141 NA NA 0.381163 0.172265 ID=COSM147598;OCCURENCE=1(stomach) 0.312 NA 5.5442036 1106 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 1106 7 135304215 135304215 C T exonic NUP205 NA synonymous SNV NUP205:NM_015135:exon29:c.C4008T:p.A1336A exonic ENSG00000155561 NA synonymous SNV ENSG00000155561:ENST00000285968:exon29:c.C4008T:p.A1336A NA NA 7q33 NA NA NA NA rs11550518 0.03 0.03 0.029 0.0355431 0.0457 0.003 0.049 0.0356 0.0491 0.04 0.0035 0.05 0.03 0.0349 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 -1.024777 NA NA 0.042558 0.035179 NA 0.065 NA 5.5435086 1106 9 74764627 74764627 C G intronic GDA NA NA NA intronic ENSG00000119125 NA NA NA NA NA 9q21.13 NA Name=Ini1,Pol2,SMC3_(ab9263),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 1106 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 1106 19 58549354 58549354 C T exonic ZSCAN1 NA synonymous SNV ZSCAN1:NM_182572:exon3:c.C150T:p.S50S exonic ENSG00000152467 NA synonymous SNV ENSG00000152467:ENST00000282326:exon3:c.C150T:p.S50S,ENSG00000152467:ENST00000601162:exon3:c.C150T:p.S50S,ENSG00000152467:ENST00000391700:exon4:c.C150T:p.S50S NA NA 19q13.43 NA NA NA NA rs113374422 0.02 0.02 0.029 0.0165735 0.0586 NA 0.0187 0.0038 0.0061 0.05 NA 0.02 0.002 0.0278 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 0.305073 NA NA 0.037275 0.007773 NA 0.007 NA 5.5429916 1106 12 105433523 105433523 T A exonic ALDH1L2 NA synonymous SNV ALDH1L2:NM_001034173:exon17:c.A2013T:p.G671G exonic ENSG00000136010 NA synonymous SNV ENSG00000136010:ENST00000258494:exon17:c.A2013T:p.G671G Score=450;Name=lod=90 NA 12q23.3 NA NA NA NA rs4964317 0.27 0.27 0.253 0.310503 0.3748 0.2619 0.2622 0.1596 0.5327 0.36 0.26 0.23 0.15 0.3681 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.260555 1.260555 NA 0.381279 0.194734 NA 0.312 NA 5.5424876 1106 3 138033181 138033181 C T exonic NME9 NA synonymous SNV NME9:NM_178130:exon7:c.G270A:p.E90E exonic ENSG00000181322 NA synonymous SNV ENSG00000181322:ENST00000317876:exon4:c.G270A:p.E90E,ENSG00000181322:ENST00000341790:exon4:c.G264A:p.E88E,ENSG00000181322:ENST00000492993:exon4:c.G270A:p.E90E,ENSG00000181322:ENST00000484930:exon5:c.G264A:p.E88E,ENSG00000181322:ENST00000536478:exon5:c.G270A:p.E90E,ENSG00000181322:ENST00000333911:exon6:c.G453A:p.E151E,ENSG00000181322:ENST00000383180:exon7:c.G270A:p.E90E,ENSG00000181322:ENST00000475751:exon7:c.G453A:p.E151E NA NA 3q22.3 Score=749;Name=V$PPARA_01 NA NA NA rs9289556 0.71 0.71 0.683 0.702077 0.7048 0.8036 0.804 0.5522 0.7249 0.71 0.81 0.78 0.56 0.7142 0.81 . . . . . . . . 0.009 P . . . . -1.030 T 0.000 T . 0.136 4.729 -0.168 0.014 -0.166 3.387 0.135614 NA NA 0.705349 0.59192 NA 0.645 NA 5.5423176 1106 15 27193125 27193125 A G exonic GABRA5 NA synonymous SNV GABRA5:NM_000810:exon11:c.A1134G:p.T378T,GABRA5:NM_001165037:exon11:c.A1134G:p.T378T exonic ENSG00000186297 NA synonymous SNV ENSG00000186297:ENST00000355395:exon10:c.A1134G:p.T378T,ENSG00000186297:ENST00000335625:exon11:c.A1134G:p.T378T,ENSG00000186297:ENST00000400081:exon11:c.A1134G:p.T378T NA NA 15q12 NA NA NA NA rs2229942 0.02 0.02 0.012 0.0121805 0.0457 NA 0.0173 NA 0.0031 0.04 NA 0.01 NA 0.0493 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 -1.340185 NA NA 0.029354 0.006386 NA 0.014 NA 5.5423126 1106 12 12814818 12814818 C T exonic GPR19 NA nonsynonymous SNV GPR19:NM_006143:exon4:c.G565A:p.V189I exonic ENSG00000183150 NA nonsynonymous SNV ENSG00000183150:ENST00000540510:exon2:c.G565A:p.V189I,ENSG00000183150:ENST00000332427:exon4:c.G565A:p.V189I Score=371;Name=lod=43 NA 12p13.1 NA NA NA NA rs4763862 0.9 0.9 0.886 0.88778 0.9304 0.997 0.9222 0.7088 0.9489 0.94 1 0.91 0.71 0.9279 1 1 T 0.0 B 0.001 B 0.012 N 1.000 P 0.93 L 1.24 T -0.910 T 0.000 T 0.063 -2.308 0.004 -1.28 -0.850 -0.369 6.981 -2.30812 NA 1 0.932791 0.746482 NA 0.906 NA 5.5422424 1106 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 1106 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 1106 14 36789775 36789775 A T exonic MBIP NA nonsynonymous SNV MBIP:NM_001144891:exon1:c.T20A:p.L7H,MBIP:NM_016586:exon1:c.T20A:p.L7H exonic ENSG00000151332 NA nonsynonymous SNV ENSG00000151332:ENST00000318473:exon1:c.T20A:p.L7H,ENSG00000151332:ENST00000359527:exon1:c.T20A:p.L7H,ENSG00000151332:ENST00000416007:exon1:c.T20A:p.L7H,ENSG00000151332:ENST00000603139:exon1:c.T20A:p.L7H,ENSG00000151332:ENST00000604336:exon1:c.T20A:p.L7H NA NA 14q13.3 NA Name=Egr-1,TBP,BRCA1_(C-1863),YY1,JunD,YY1_(C-20),TCF4,SRF,c-Myc,GATA3_(SC-268),c-Jun,TAF1,Pol2-4H8,ELF1_(SC-631),HEY1,ATF3,Pol2,CHD2_(N-1250) NA NA rs2899849 0.82 0.82 0.777 0.785942 0.9364 0.9554 0.8905 0.3926 0.9141 0.94 0.95 0.86 0.46 0.9084 0.95 0.6 T 0.003 B 0.004 B 0.726 N 1.000 P 0 N 0.29 T -1.003 T 0.000 T 0.432 0.264 5.43 1.35 0.428 0.117 2.885 0.264493 NA 0.03 0.946628 0.495688 NA 0.754 NA 5.5419054 1106 16 90102835 90102835 A G exonic GAS8 NA synonymous SNV GAS8:NM_001481:exon6:c.A597G:p.E199E exonic ENSG00000141013 NA synonymous SNV ENSG00000141013:ENST00000268699:exon6:c.A597G:p.E199E,ENSG00000141013:ENST00000536122:exon6:c.A522G:p.E174E Score=284;Name=lod=19 NA 16q24.3 NA NA NA NA rs868045 0.27 0.27 0.281 0.264377 0.3907 0.0079 0.2493 0.3933 0.2352 0.37 0.01 0.28 0.39 0.324 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449586 NA NA 0.410698 0.391037 NA 0.319 NA 5.5412686 1106 4 156721098 156721098 G A exonic GUCY1B3 NA synonymous SNV GUCY1B3:NM_000857:exon9:c.G1047A:p.T349T exonic ENSG00000061918 NA synonymous SNV ENSG00000061918:ENST00000505154:exon8:c.G843A:p.T281T,ENSG00000061918:ENST00000264424:exon9:c.G1047A:p.T349T,ENSG00000061918:ENST00000503520:exon9:c.G1047A:p.T349T,ENSG00000061918:ENST00000513437:exon9:c.G843A:p.T281T,ENSG00000061918:ENST00000502959:exon10:c.G1113A:p.T371T,ENSG00000061918:ENST00000505764:exon10:c.G987A:p.T329T,ENSG00000061918:ENST00000507146:exon10:c.G843A:p.T281T NA NA 4q32.1 NA NA NA NA rs17854507 0.03 0.03 0.03 0.034345 0.0517 0.0179 0.0418 0.0015 0.0726 0.05 0.02 0.06 0.002 0.0371 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 0.5365 NA NA 0.03668 0.006778 ID=COSM1428186;OCCURENCE=1(large_intestine) 0.043 NA 5.5411866 1106 5 476353 476353 C T exonic SLC9A3 NA synonymous SNV SLC9A3:NM_004174:exon13:c.G2031A:p.A677A exonic ENSG00000066230 NA synonymous SNV ENSG00000066230:ENST00000264938:exon13:c.G2031A:p.A677A,ENSG00000066230:ENST00000514375:exon13:c.G2004A:p.A668A NA NA 5p15.33 NA NA Name=8 NA rs2230437 0.24 0.24 0.219 0.212061 0.4115 0.0347 0.3112 0.1377 0.2198 0.42 0.03 0.34 0.16 0.3205 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.883725 NA NA 0.393488 0.178928 ID=COSM1132153;OCCURENCE=1(prostate) 0.239 NA 5.5411786 1106 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 1106 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 1106 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 1106 1 19203997 19203997 C G exonic ALDH4A1 NA synonymous SNV ALDH4A1:NM_001161504:exon10:c.G870C:p.A290A,ALDH4A1:NM_003748:exon10:c.G1050C:p.A350A,ALDH4A1:NM_170726:exon10:c.G1050C:p.A350A exonic ENSG00000159423 NA synonymous SNV ENSG00000159423:ENST00000290597:exon10:c.G1050C:p.A350A,ENSG00000159423:ENST00000375341:exon10:c.G1050C:p.A350A,ENSG00000159423:ENST00000538309:exon10:c.G870C:p.A290A,ENSG00000159423:ENST00000538839:exon10:c.G1050C:p.A350A Score=489;Name=lod=129 NA 1p36.13 Score=847;Name=V$AHRARNT_01 NA NA NA rs2230705 0.65 0.65 0.627 0.641573 0.7117 0.4683 0.7363 0.733 0.5573 0.71 0.47 0.72 0.71 0.7072 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04284 NA NA 0.707538 0.719346 ID=COSM424869,COSM1473186;OCCURENCE=1(breast) 0.696 NA 5.5402286 1106 19 9070194 9070194 A G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon3:c.T17252C:p.I5751T exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000397910:exon3:c.T17252C:p.I5751T NA NA 19p13.2 NA NA NA NA rs1344572 0.94 0.94 0.943 0.942093 0.9195 0.8829 0.9683 0.997 0.9335 0.92 0.9 0.97 0.99 0.9312 0.99 0 D 0.0 B 0.0 B . . . . -0.805 N 3.17 T -1.044 T 0.000 T 0.054 -0.414 2.065 0.669 -0.053 -0.381 4.215 -0.414369 NA 0.55 0.94283 0.989736 NA 0.891 NA 5.5398034 1106 2 29404441 29404441 G A exonic CLIP4 NA synonymous SNV CLIP4:NM_024692:exon16:c.G1800A:p.S600S exonic ENSG00000115295 NA synonymous SNV ENSG00000115295:ENST00000401617:exon15:c.G1479A:p.S493S,ENSG00000115295:ENST00000320081:exon16:c.G1800A:p.S600S,ENSG00000115295:ENST00000404424:exon16:c.G1800A:p.S600S NA NA 2p23.2 NA NA NA NA rs35300134 0.02 0.02 0.013 0.0203674 0.0358 NA 0.0331 0.0015 0.0419 0.04 NA 0.04 NA 0.0416 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 1.201123 NA NA 0.049535 0.008171 NA 0.014 NA 5.5397316 1106 16 84215390 84215390 T C exonic TAF1C NA synonymous SNV TAF1C:NM_005679:exon8:c.A996G:p.A332A,TAF1C:NM_001243156:exon9:c.A918G:p.A306A,TAF1C:NM_139353:exon9:c.A717G:p.A239A exonic ENSG00000103168 NA synonymous SNV ENSG00000103168:ENST00000378541:exon7:c.A996G:p.A332A,ENSG00000103168:ENST00000567759:exon8:c.A996G:p.A332A,ENSG00000103168:ENST00000341690:exon9:c.A717G:p.A239A,ENSG00000103168:ENST00000541676:exon9:c.A717G:p.A239A,ENSG00000103168:ENST00000566732:exon9:c.A918G:p.A306A Score=358;Name=lod=38 NA 16q24.1 NA NA NA NA rs2230127 0.35 0.35 0.331 0.332069 0.3638 0.377 0.4337 0.2413 0.3037 0.36 0.42 0.37 0.23 0.3769 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009478 NA NA 0.386395 0.266591 ID=COSM148132;OCCURENCE=1(stomach) 0.283 NA 5.5395716 1106 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 1106 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 1106 17 39340707 39340707 C T exonic KRTAP4-1 NA nonsynonymous SNV KRTAP4-1:NM_033060:exon2:c.G343A:p.A115T exonic ENSG00000198443 NA nonsynonymous SNV ENSG00000198443:ENST00000398472:exon1:c.G400A:p.A134T NA NA 17q21.2 Score=774;Name=V$MIF1_01 NA NA NA rs398825 0.94 0.94 0.917 0.952077 0.9324 0.9484 0.9741 0.9395 0.9775 0.93 0.95 0.97 0.93 0.9396 0.97 0.16 T 0.0 B 0.0 B . . 1.000 P . . 5.06 T -1.049 T 0.000 T 0.051 1.831 12.08 -1.83 -0.659 -0.133 6.815 1.831264 1.831264 0.39 0.92314 0.942956 NA 0.42 NA 5.5381934 1106 19 9001835 9001835 G A exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon53:c.C40413T:p.P13471P exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000380951:exon5:c.C336T:p.P112P,ENSG00000181143:ENST00000397910:exon53:c.C40413T:p.P13471P NA NA 19p13.2 NA NA NA NA rs12985778 0.63 0.63 0.579 0.598442 0.7177 0.6071 0.7219 0.3812 0.6728 0.7 0.67 0.71 0.43 0.6788 0.73 0.62 T . . . . . . . . . . . . -0.972 T 0.000 T . -0.442 1.947 -2.08 -0.730 -0.128 4.652 -0.442185 NA NA 0.731997 0.467467 NA NA NA 5.5381696 1106 4 185631338 185631338 A G intronic MLF1IP NA NA NA intronic ENSG00000151725 NA NA NA Score=251;Name=lod=14 NA 4q35.1 NA Name=NRSF NA NA rs28666955 0.14 0.14 0.141 0.144569 0.1481 0.001 0.1354 0.295 0.092 0.14 NA 0.15 0.29 0.1504 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.051606 2.051606 NA 0.163372 0.269178 NA 0.21 NA 5.538128 1106 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 1106 18 33785093 33785093 G A exonic MOCOS NA nonsynonymous SNV MOCOS:NM_017947:exon6:c.G1072A:p.V358M exonic ENSG00000075643 NA nonsynonymous SNV ENSG00000075643:ENST00000261326:exon6:c.G1072A:p.V358M NA NA 18q12.2 NA NA NA NA rs678560 0.89 0.89 0.897 0.855032 0.9364 0.8611 0.8934 0.764 0.8609 0.94 0.88 0.9 0.81 0.9096 0.95 0.12 T 0.002 B 0.001 B 0.014 N 1.000 P 0.115 N 1.57 T -0.902 T 0.000 T 0.03 0.089 4.478 -11.8 -2.913 0.010 2.444 0.088538 NA 0.15 0.950233 0.813663 NA 0.906 NA 5.5371004 1106 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 1106 17 7530271 7530271 C T exonic SAT2 NA synonymous SNV SAT2:NM_133491:exon4:c.G294A:p.P98P exonic ENSG00000141504 NA synonymous SNV ENSG00000141504:ENST00000269298:exon4:c.G294A:p.P98P NA NA 17p13.1 Score=758;Name=V$SRF_01 NA NA NA rs858520 0.27 0.27 0.255 0.271366 0.3887 0.3155 0.2695 0.0182 0.4489 0.4 0.28 0.33 0.02 0.3547 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.445315 NA NA 0.38814 0.075125 NA 0.326 NA 5.5351266 1107 1 203155703 203155703 A T intronic CHI3L1 NA NA NA intronic ENSG00000133048 NA NA NA NA NA 1q32.1 NA Name=Pol2 Name=7 NA rs7515776 0.29 0.29 0.291 0.286142 0.1372 0.2907 0.2896 0.4811 0.1687 0.13 0.32 0.27 0.51 0.191 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012245 NA NA 0.137093 0.43645 NA 0.268 NA 5.534707 1107 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 1107 9 125133479 125133479 T C exonic PTGS1 NA nonsynonymous SNV PTGS1:NM_000962:exon2:c.T22C:p.W8R,PTGS1:NM_001271164:exon2:c.T22C:p.W8R,PTGS1:NM_080591:exon2:c.T22C:p.W8R exonic ENSG00000095303 NA nonsynonymous SNV ENSG00000095303:ENST00000426608:exon1:c.T13C:p.W5R,ENSG00000095303:ENST00000223423:exon2:c.T22C:p.W8R,ENSG00000095303:ENST00000362012:exon2:c.T22C:p.W8R NA NA 9q33.2 NA Name=NFKB,Pol2,Egr-1 NA NA rs1236913 0.96 0.96 0.955 0.940895 0.9443 0.9911 0.9308 0.9939 0.8211 0.94 0.99 0.92 0.99 0.9257 0.99 0.38 T 0.0 B 0.0 B 0.162 N 1.000 P 0.55 N 2.53 T -0.968 T 0.000 T 0.261 -1.17 0.089 0.385 -0.146 -0.724 6.506 -1.170496 NA 0 0.929302 0.982524 NA 0.87 NA 5.5340314 1107 5 139060486 139060486 G A exonic CXXC5 NA synonymous SNV CXXC5:NM_016463:exon2:c.G378A:p.A126A exonic ENSG00000171604 NA synonymous SNV ENSG00000171604:ENST00000302517:exon2:c.G378A:p.A126A,ENSG00000171604:ENST00000504844:exon2:c.G378A:p.A126A,ENSG00000171604:ENST00000511048:exon2:c.G378A:p.A126A,ENSG00000171604:ENST00000511457:exon2:c.G378A:p.A126A,ENSG00000171604:ENST00000502716:exon3:c.G378A:p.A126A,ENSG00000171604:ENST00000520967:exon3:c.G378A:p.A126A NA NA 5q31.2 NA NA NA NA rs356445 0.17 0.17 NA 0.191094 0.0517 0.0585 0.0634 0.5015 0.1421 0.05 0.05 0.07 0.55 0.0811 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.621274 NA NA NA NA ID=COSM448684;OCCURENCE=1(breast) 0.203 NA 5.5338666 1107 5 170883734 170883734 G A exonic FGF18 NA synonymous SNV FGF18:NM_003862:exon5:c.G549A:p.P183P exonic ENSG00000156427 NA synonymous SNV ENSG00000156427:ENST00000274625:exon5:c.G549A:p.P183P NA NA 5q35.1 NA NA NA NA rs34347344 0.06 0.06 0.046 0.0557109 0.0288 0.123 0.1196 0.003 0.0399 0.03 0.11 0.11 0.0041 0.0567 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 0.160281 NA NA 0.047442 0.011121 NA 0.036 NA 5.5337246 1107 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 1107 2 118583940 118583940 C T exonic DDX18 NA synonymous SNV DDX18:NM_006773:exon11:c.C1617T:p.R539R exonic ENSG00000088205 NA synonymous SNV ENSG00000088205:ENST00000415038:exon5:c.C609T:p.R203R,ENSG00000088205:ENST00000263239:exon11:c.C1617T:p.R539R Score=657;Name=lod=626 NA 2q14.1 NA NA NA NA rs2303348 0.33 0.33 0.305 0.303714 0.3767 0.5298 0.3242 0.0378 0.3405 0.37 0.53 0.33 0.03 0.3657 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.80113 NA NA 0.390814 0.110985 NA 0.225 NA 5.5334526 1107 22 29704125 29704125 C T exonic GAS2L1 NA synonymous SNV GAS2L1:NM_152237:exon2:c.C30T:p.G10G exonic ENSG00000185340 NA synonymous SNV ENSG00000185340:ENST00000471961:exon1:c.C30T:p.G10G,ENSG00000185340:ENST00000341313:exon2:c.C30T:p.G10G,ENSG00000185340:ENST00000360113:exon2:c.C30T:p.G10G,ENSG00000185340:ENST00000403764:exon2:c.C30T:p.G10G,ENSG00000185340:ENST00000406549:exon2:c.C30T:p.G10G,ENSG00000185340:ENST00000407647:exon2:c.C30T:p.G10G,ENSG00000185340:ENST00000407854:exon2:c.C30T:p.G10G,ENSG00000185340:ENST00000428622:exon2:c.C30T:p.G10G,ENSG00000185340:ENST00000416823:exon3:c.C30T:p.G10G Score=482;Name=lod=121 NA 22q12.2 NA NA NA NA rs11090564 0.33 0.33 0.285 0.327276 0.3588 0.2847 0.5159 0.1808 0.4029 0.35 0.3 0.51 0.18 0.3933 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.374267 1.374267 NA 0.381502 0.203282 ID=COSM1162503,COSM1162504;OCCURENCE=1(pancreas) 0.333 NA 5.5330646 1107 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 1107 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 1107 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 1107 17 79580457 79580457 C A exonic NPLOC4 NA synonymous SNV NPLOC4:NM_017921:exon4:c.G273T:p.T91T exonic ENSG00000182446 NA synonymous SNV ENSG00000182446:ENST00000331134:exon4:c.G273T:p.T91T,ENSG00000182446:ENST00000374747:exon4:c.G273T:p.T91T,ENSG00000182446:ENST00000574897:exon4:c.G273T:p.T91T NA NA 17q25.3 NA NA NA NA rs17852306 0.1 0.1 0.115 0.0854633 0.0437 0.2212 0.0303 0.053 0.0716 0.04 0.22 0.04 0.08 0.0511 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374635 NA NA 0.040593 0.036004 NA 0.087 NA 5.5312736 1107 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 1107 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 1107 3 46784580 46784580 G A intronic PRSS45 NA NA NA intronic ENSG00000188086,ENSG00000206549 NA NA NA NA NA 3p21.31 Score=792;Name=V$PPARG_01 Name=NRSF NA NA rs62246251 0.21 0.21 0.23 0.262979 0.1441 0.121 0.1844 0.528 0.229 0.15 0.11 0.16 0.47 0.1832 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144237 NA NA 0.142488 0.414834 NA 0.196 NA 5.530212 1107 5 147693826 147693826 G A intronic SPINK7 NA NA NA ncRNA_intronic ENSG00000247199 NA NA NA NA NA 5q32 NA Name=CTCF,Rad21 Name=13 NA rs3749690 0.37 0.37 0.385 0.370008 0.2525 0.4236 0.3012 0.5408 0.2536 0.27 0.41 0.32 0.54 0.2954 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.21121 NA NA 0.25593 0.482751 ID=COSN167593;OCCURENCE=1(large_intestine) 0.239 NA 5.5295033 1107 17 72246466 72246466 C T exonic TTYH2 NA synonymous SNV TTYH2:NM_052869:exon4:c.C123T:p.T41T,TTYH2:NM_032646:exon10:c.C1086T:p.T362T exonic ENSG00000141540 NA synonymous SNV ENSG00000141540:ENST00000526858:exon2:c.C135T:p.T45T,ENSG00000141540:ENST00000441391:exon4:c.C123T:p.T41T,ENSG00000141540:ENST00000269346:exon10:c.C1086T:p.T362T,ENSG00000141540:ENST00000529107:exon10:c.C1023T:p.T341T NA NA 17q25.1 Score=886;Name=V$YY1_01 NA NA NA rs7224615 0.34 0.34 0.34 0.355631 0.3588 0.1101 0.2954 0.5499 0.3855 0.37 0.12 0.29 0.57 0.3771 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.961624 NA NA 0.402209 0.530413 ID=COSM148334;OCCURENCE=1(stomach) 0.384 NA 5.5285576 1107 3 52825585 52825585 T C exonic ITIH1 NA synonymous SNV ITIH1:NM_001166435:exon17:c.T1683C:p.S561S,ITIH1:NM_001166436:exon17:c.T1683C:p.S561S,ITIH1:NM_001166434:exon19:c.T2121C:p.S707S,ITIH1:NM_002215:exon21:c.T2547C:p.S849S exonic ENSG00000055957 NA synonymous SNV ENSG00000055957:ENST00000405128:exon5:c.T645C:p.S215S,ENSG00000055957:ENST00000428133:exon10:c.T1206C:p.S402S,ENSG00000055957:ENST00000537050:exon17:c.T1683C:p.S561S,ENSG00000055957:ENST00000540715:exon19:c.T2121C:p.S707S,ENSG00000055957:ENST00000273283:exon21:c.T2547C:p.S849S NA NA 3p21.1 Score=823;Name=V$ARP1_01 NA NA NA rs9324 0.46 0.46 0.486 0.411941 0.3926 0.373 0.4669 0.5825 0.2025 0.39 0.44 0.46 0.59 0.3805 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150501 NA NA 0.365116 0.517249 NA 0.355 NA 5.5284506 1107 1 24496085 24496085 G A exonic IFNLR1 NA synonymous SNV IFNLR1:NM_170743:exon3:c.C189T:p.P63P,IFNLR1:NM_173064:exon3:c.C189T:p.P63P,IFNLR1:NM_173065:exon3:c.C189T:p.P63P exonic ENSG00000185436 NA synonymous SNV ENSG00000185436:ENST00000327535:exon3:c.C189T:p.P63P,ENSG00000185436:ENST00000327575:exon3:c.C189T:p.P63P,ENSG00000185436:ENST00000374418:exon3:c.C189T:p.P63P,ENSG00000185436:ENST00000374421:exon3:c.C189T:p.P63P NA NA 1p36.11 NA NA NA NA rs34654982 0.09 0.09 0.115 0.116214 0.0417 0.0327 0.0432 0.289 0.0971 0.03 0.04 0.05 0.26 0.0609 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12675 NA NA 0.036628 0.241262 NA 0.232 NA 5.5274386 1107 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 1107 12 95603098 95603098 G A exonic FGD6 NA synonymous SNV FGD6:NM_018351:exon2:c.C1962T:p.L654L exonic ENSG00000180263 NA synonymous SNV ENSG00000180263:ENST00000343958:exon2:c.C1962T:p.L654L,ENSG00000180263:ENST00000546711:exon2:c.C1962T:p.L654L,ENSG00000180263:ENST00000549499:exon2:c.C1962T:p.L654L NA NA 12q22 NA NA NA NA rs17023760 0.04 0.04 0.039 0.0495208 0.0467 0.0109 0.0375 0.0628 0.0828 0.04 0.01 0.04 0.07 0.0474 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 -1.219364 NA NA 0.045698 0.062188 NA 0.051 NA 5.5268686 1107 1 234546245 234546245 C T exonic TARBP1 NA synonymous SNV TARBP1:NM_005646:exon23:c.G3738A:p.T1246T exonic ENSG00000059588 NA synonymous SNV ENSG00000059588:ENST00000040877:exon23:c.G3738A:p.T1246T Score=554;Name=lod=238 NA 1q42.2 NA NA NA NA rs1141264 0.36 0.36 0.342 0.337061 0.3907 0.3958 0.3847 0.211 0.3579 0.4 0.41 0.41 0.21 0.3638 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.380197 NA NA 0.385358 0.240227 NA 0.384 NA 5.5268086 1107 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 1107 5 21752050 21752050 A G exonic CDH12 NA synonymous SNV CDH12:NM_004061:exon15:c.T2181C:p.D727D exonic ENSG00000154162 NA synonymous SNV ENSG00000154162:ENST00000522262:exon12:c.T2061C:p.D687D,ENSG00000154162:ENST00000504376:exon14:c.T2181C:p.D727D,ENSG00000154162:ENST00000382254:exon15:c.T2181C:p.D727D Score=313;Name=lod=25 NA 5p14.3 Score=772;Name=V$HEN1_02 NA NA NA rs6451992 0.57 0.57 0.526 0.548722 0.7475 0.4355 0.6268 0.3782 0.636 0.75 0.46 0.68 0.36 0.6569 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 -0.154498 NA NA 0.735698 0.455288 ID=COSM149801;OCCURENCE=1(stomach) 0.623 NA 5.5265686 1107 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 1107 4 95186055 95186055 A G exonic SMARCAD1 NA synonymous SNV SMARCAD1:NM_001254949:exon2:c.A189G:p.Q63Q,SMARCAD1:NM_001128429:exon10:c.A1479G:p.Q493Q,SMARCAD1:NM_001128430:exon10:c.A1479G:p.Q493Q,SMARCAD1:NM_020159:exon10:c.A1479G:p.Q493Q exonic ENSG00000163104 NA synonymous SNV ENSG00000163104:ENST00000509418:exon2:c.A189G:p.Q63Q,ENSG00000163104:ENST00000354268:exon10:c.A1479G:p.Q493Q,ENSG00000163104:ENST00000359052:exon10:c.A1479G:p.Q493Q,ENSG00000163104:ENST00000457823:exon10:c.A1479G:p.Q493Q Score=457;Name=lod=96 NA 4q22.3 NA NA NA NA rs2306802 0.34 0.34 0.304 0.335264 0.3698 0.499 0.3501 0.0673 0.4826 0.37 0.49 0.36 0.09 0.3912 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.187061 2.187061 NA 0.379944 0.123978 ID=COSM1130988;OCCURENCE=1(prostate) 0.283 NA 5.5257226 1107 10 86012713 86012713 C T exonic RGR NA synonymous SNV RGR:NM_001012720:exon4:c.C459T:p.Y153Y,RGR:NM_001012722:exon4:c.C459T:p.Y153Y,RGR:NM_002921:exon4:c.C471T:p.Y157Y exonic ENSG00000148604 NA synonymous SNV ENSG00000148604:ENST00000358110:exon4:c.C459T:p.Y153Y,ENSG00000148604:ENST00000359452:exon4:c.C471T:p.Y157Y Score=524;Name=lod=179 NA 10q23.1 NA NA NA NA rs1042454 0.48 0.48 0.481 0.503195 0.3588 0.3313 0.4841 0.8548 0.3671 0.37 0.32 0.48 0.85 0.4184 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 0.985154 NA NA 0.364302 0.780073 ID=COSM146980;OCCURENCE=1(stomach),1(prostate) 0.551 NA 5.5251646 1108 1 46498375 46498375 A G exonic MAST2 NA synonymous SNV MAST2:NM_015112:exon26:c.A3522G:p.V1174V exonic ENSG00000086015 NA synonymous SNV ENSG00000086015:ENST00000361297:exon26:c.A3522G:p.V1174V,ENSG00000086015:ENST00000372009:exon26:c.A3243G:p.V1081V Score=534;Name=lod=198 NA 1p34.1 Score=850;Name=V$ZID_01 NA NA NA rs1622208 0.72 0.72 0.7 0.6877 0.7346 0.7073 0.6441 0.7534 0.5613 0.73 0.7 0.68 0.74 0.6971 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 0.846917 NA NA 0.71 0.75 NA 0.594 NA 5.5249666 1108 18 66504351 66504351 G A exonic CCDC102B NA synonymous SNV CCDC102B:NM_024781:exon2:c.G351A:p.R117R,CCDC102B:NM_001093729:exon4:c.G351A:p.R117R exonic ENSG00000150636 NA synonymous SNV ENSG00000150636:ENST00000584156:exon1:c.G351A:p.R117R,ENSG00000150636:ENST00000319445:exon2:c.G351A:p.R117R,ENSG00000150636:ENST00000358653:exon2:c.G351A:p.R117R,ENSG00000150636:ENST00000360242:exon2:c.G351A:p.R117R,ENSG00000150636:ENST00000581520:exon2:c.G351A:p.R117R,ENSG00000150636:ENST00000582371:exon3:c.G351A:p.R117R,ENSG00000150636:ENST00000584775:exon4:c.G351A:p.R117R Score=423;Name=lod=70 NA 18q22.1 NA NA NA NA rs637051 0.23 0.23 0.24 0.20627 0.4165 0.006 0.2839 0.1929 0.1595 0.41 0.01 0.29 0.19 0.3185 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.409631 1.409631 NA 0.406847 0.217763 NA 0.297 NA 5.5248196 1108 6 32410210 32410210 T C intronic HLA-DRA NA NA NA intronic ENSG00000204287 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 Name=5 NA rs3129884 0.15 0.15 0.154 0.120008 0.1471 0.123 0.1282 0.1263 0.0746 0.15 0.18 0.14 0.15 0.1546 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15193 NA NA 0.17368 0.132363 NA 0.123 NA 5.52462 1108 6 32410215 32410215 T C intronic HLA-DRA NA NA NA intronic ENSG00000204287 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 Name=5 NA rs3129885 0.15 0.15 0.151 0.120008 0.1471 0.123 0.1282 0.1263 0.0746 0.15 0.18 0.14 0.15 0.1546 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.369133 1.369133 NA 0.17368 0.132694 NA 0.123 NA 5.52462 1108 11 86123467 86123467 G A exonic CCDC81 NA synonymous SNV CCDC81:NM_021827:exon10:c.G987A:p.A329A,CCDC81:NM_001156474:exon11:c.G1257A:p.A419A exonic ENSG00000149201 NA synonymous SNV ENSG00000149201:ENST00000528728:exon6:c.G462A:p.A154A,ENSG00000149201:ENST00000278487:exon10:c.G462A:p.A154A,ENSG00000149201:ENST00000354755:exon10:c.G987A:p.A329A,ENSG00000149201:ENST00000445632:exon11:c.G1257A:p.A419A Score=371;Name=lod=43 NA 11q14.2 NA NA NA NA rs3741006 0.3 0.3 0.302 0.322085 0.3897 0.2718 0.3991 0.2216 0.3855 0.37 0.23 0.4 0.23 0.3597 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.112198 NA NA 0.392882 0.245459 NA 0.42 NA 5.5243846 1108 21 33044408 33044408 A G exonic SCAF4 NA synonymous SNV SCAF4:NM_001145444:exon19:c.T2703C:p.V901V,SCAF4:NM_001145445:exon20:c.T2682C:p.V894V,SCAF4:NM_020706:exon20:c.T2748C:p.V916V exonic ENSG00000156304 NA synonymous SNV ENSG00000156304:ENST00000434667:exon19:c.T2703C:p.V901V,ENSG00000156304:ENST00000286835:exon20:c.T2748C:p.V916V,ENSG00000156304:ENST00000399804:exon20:c.T2682C:p.V894V NA NA 21q22.11 NA NA NA NA rs73201506 0.02 0.02 0.025 0.0165735 0.0596 0.003 0.0187 0.0008 0.0061 0.06 0.0017 0.01 NA 0.0371 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 -0.385498 NA NA 0.045592 0.009305 NA 0.014 NA 5.5243746 1108 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 1108 8 6793581 6793581 A G exonic DEFA4 NA synonymous SNV DEFA4:NM_001925:exon3:c.T255C:p.G85G exonic ENSG00000164821 NA synonymous SNV ENSG00000164821:ENST00000297435:exon3:c.T255C:p.G85G NA NA 8p23.1 NA NA Name=3 NA rs2738100 0.42 0.42 NA 0.461462 0.3648 0.4593 0.2853 0.6172 0.4775 0.36 0.43 0.33 0.59 0.3981 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275351 NA NA 0.379884 0.526328 NA 0.391 NA 5.5238826 1108 7 101200727 101200727 G A exonic COL26A1 NA unknown UNKNOWN exonic ENSG00000160963 NA nonsynonymous SNV ENSG00000160963:ENST00000313669:exon14:c.G1240A:p.A414T NA NA 7q22.1 NA NA NA NA rs17393069 0.33 0.33 0.313 0.321086 0.3728 0.2401 0.3184 0.3404 0.3272 0.38 0.26 0.32 0.32 0.3777 0.39 0.06 T 0.226 B 0.041 B 0.431 N 1.000 P . . 0.95 T -0.947 T 0.000 T . 0.702 7.744 -0.864 -0.188 -0.071 4.492 0.702005 NA 0.03 0.392289 0.348668 ID=COSM1446841;OCCURENCE=1(large_intestine) 0.435 NA 5.5238777 1108 19 36322270 36322270 C T exonic NPHS1 NA synonymous SNV NPHS1:NM_004646:exon26:c.G3315A:p.S1105S exonic ENSG00000161270 NA synonymous SNV ENSG00000161270:ENST00000353632:exon25:c.G3195A:p.S1065S,ENSG00000161270:ENST00000378910:exon26:c.G3315A:p.S1105S Score=371;Name=lod=43 NA 19q13.12 NA NA NA NA rs2071327 0.39 0.39 0.329 0.367612 0.3668 0.6716 0.3919 0.0545 0.4611 0.39 0.69 0.33 0.07 0.3923 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 -0.428996 NA NA 0.383721 0.106673 NA 0.319 NA 5.5238456 1108 17 7350975 7350975 T C intronic CHRNB1 NA NA NA intronic ENSG00000170175 NA NA NA Score=459;Name=lod=98 NA 17p13.1 NA NA NA NA rs2302765 0.17 0.17 0.144 0.1873 0.1551 0.1865 0.2233 0.1498 0.2464 0.15 0.19 0.23 0.14 0.1748 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.053067 NA NA 0.146279 0.1532 NA 0.101 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116725.1;CLNDSDB=.;CLNDSDBID=. 5.523821 1108 2 239016539 239016539 C G exonic ESPNL NA synonymous SNV ESPNL:NM_194312:exon4:c.C780G:p.L260L exonic ENSG00000144488 NA synonymous SNV ENSG00000144488:ENST00000343063:exon4:c.C780G:p.L260L,ENSG00000144488:ENST00000409169:exon4:c.C780G:p.L260L Score=443;Name=lod=84 NA 2q37.3 Score=792;Name=V$PAX2_01 NA NA NA rs935415 0.74 0.74 0.726 0.746805 0.7346 0.7143 0.6816 0.8253 0.7331 0.74 0.69 0.7 0.81 0.7099 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 0.434157 NA NA 0.698488 0.801046 NA 0.739 NA 5.5236786 1108 21 47703649 47703649 G A exonic MCM3AP NA synonymous SNV MCM3AP:NM_003906:exon2:c.C1323T:p.N441N exonic ENSG00000160294 NA synonymous SNV ENSG00000160294:ENST00000291688:exon2:c.C1323T:p.N441N,ENSG00000160294:ENST00000397708:exon3:c.C1323T:p.N441N Score=461;Name=lod=100 NA 21q22.3 NA NA NA NA rs11702450 0.27 0.27 0.276 0.270567 0.4125 0.1558 0.232 0.2005 0.365 0.41 0.13 0.28 0.21 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 -0.29643 NA NA 0.392791 0.216069 NA 0.333 NA 5.5236756 1108 17 7359277 7359277 T C intronic CHRNB1 NA NA NA intronic ENSG00000170175 NA NA NA NA NA 17p13.1 NA Name=Pol2,Egr-1 Name=146 NA rs2302763 0.17 0.17 0.146 0.182907 0.1551 0.1815 0.2291 0.1339 0.2464 0.15 0.19 0.24 0.13 0.1756 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.098673 NA NA 0.145698 0.145483 NA 0.094 NA 5.523602 1108 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 1108 9 90265015 90265015 C T exonic DAPK1 NA synonymous SNV DAPK1:NM_004938:exon16:c.C1608T:p.D536D exonic ENSG00000196730 NA synonymous SNV ENSG00000196730:ENST00000491893:exon15:c.C1608T:p.D536D,ENSG00000196730:ENST00000358077:exon16:c.C1608T:p.D536D,ENSG00000196730:ENST00000408954:exon16:c.C1608T:p.D536D,ENSG00000196730:ENST00000469640:exon16:c.C1608T:p.D536D,ENSG00000196730:ENST00000472284:exon16:c.C1608T:p.D536D Score=429;Name=lod=74 NA 9q21.33 NA NA NA NA rs3818584 0.4 0.4 0.341 0.354034 0.3748 0.5784 0.5432 0.1241 0.2781 0.39 0.59 0.49 0.12 0.3895 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.116376 NA NA 0.379256 0.153591 ID=COSM1636275,COSM1636274;OCCURENCE=2(liver) 0.29 NA 5.5231106 1108 9 130191186 130191186 C T exonic ZNF79 NA nonsynonymous SNV ZNF79:NM_007135:exon2:c.C92T:p.T31I exonic ENSG00000196152 NA nonsynonymous SNV ENSG00000196152:ENST00000342483:exon2:c.C92T:p.T31I,ENSG00000196152:ENST00000543471:exon3:c.C20T:p.T7I NA NA 9q33.3 NA NA NA NA rs13292096 0.57 0.57 0.566 0.557508 0.6342 0.4107 0.6499 0.6074 0.4969 0.64 0.41 0.61 0.61 0.5879 0.64 0.17 T 0.001 B 0.001 B . . 1.000 P 1.685 L 3.22 T -1.028 T 0.000 T 0.031 3.717 18.88 1.95 0.381 0.588 4.392 3.716732 3.716732 0.22 0.588488 0.64049 ID=COSM1179844;OCCURENCE=1(prostate) 0.471 NA 5.5227454 1108 1 183542323 183542323 C T exonic NCF2 NA synonymous SNV NCF2:NM_001190794:exon4:c.G471A:p.A157A,NCF2:NM_000433:exon5:c.G606A:p.A202A,NCF2:NM_001127651:exon6:c.G606A:p.A202A exonic ENSG00000116701 NA synonymous SNV ENSG00000116701:ENST00000413720:exon4:c.G471A:p.A157A,ENSG00000116701:ENST00000367535:exon5:c.G606A:p.A202A,ENSG00000116701:ENST00000367536:exon6:c.G606A:p.A202A NA NA 1q25.3 NA NA NA NA rs17849501 0.03 0.03 0.027 0.0181709 0.0596 NA 0.0245 NA 0.0143 0.06 NA 0.02 NA 0.0341 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 0.78804 NA NA 0.050349 0.011121 NA 0.007 NA 5.5226176 1108 1 223567531 223567531 G A exonic C1orf65 NA synonymous SNV C1orf65:NM_152610:exon1:c.G714A:p.P238P exonic ENSG00000178395 NA synonymous SNV ENSG00000178395:ENST00000366875:exon1:c.G714A:p.P238P NA NA 1q41 NA NA NA NA rs2298063 0.06 0.06 0.057 0.0804712 0.0408 0.13 0.0634 0.0825 0.0798 0.04 0.12 0.05 0.05 0.0663 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 0.017529 NA NA 0.038488 0.08148 NA 0.029 NA 5.5210786 1108 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 1108 5 171583809 171583809 C G intronic STK10 NA NA NA intronic ENSG00000072786 NA NA NA NA NA 5q35.1 NA Name=FOXA1_(SC-101058),GATA2_(CG2-96),GATA-2,FOXA1_(C-20),E2F6_(H-50),Pol2-4H8,GABP,c-Jun,HNF4A,HNF4G_(SC-6558),TAL1_(SC-12984),SP1,NRSF,c-Fos,HNF4A_(H-171),Pol2(b) Name=35 NA rs2306960 0.23 0.23 0.233 0.221446 0.1421 0.2966 0.2493 0.2458 0.1728 0.16 0.3 0.22 0.27 0.187 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.606392 NA NA 0.150581 0.198366 NA 0.167 NA 5.520319 1108 1 209807972 209807972 G A exonic LAMB3 NA synonymous SNV LAMB3:NM_001017402:exon5:c.C384T:p.P128P,LAMB3:NM_000228:exon6:c.C384T:p.P128P,LAMB3:NM_001127641:exon6:c.C384T:p.P128P exonic ENSG00000196878 NA synonymous SNV ENSG00000196878:ENST00000391911:exon5:c.C384T:p.P128P,ENSG00000196878:ENST00000356082:exon6:c.C384T:p.P128P,ENSG00000196878:ENST00000367030:exon6:c.C384T:p.P128P,ENSG00000196878:ENST00000415782:exon6:c.C384T:p.P128P Score=371;Name=lod=43 NA 1q32.2 NA NA NA NA rs1130667 0.28 0.28 0.25 0.245407 0.3887 0.2381 0.2421 0.0908 0.317 0.41 0.25 0.3 0.11 0.3625 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082685 NA NA 0.395581 0.153881 NA 0.145 NA 5.5198856 1108 17 75494705 75494705 A G exonic SEPT9 NA nonsynonymous SNV SEPT9:NM_001113495:exon10:c.A1390G:p.M464V,SEPT9:NM_001113496:exon10:c.A973G:p.M325V,SEPT9:NM_001113493:exon11:c.A1705G:p.M569V,SEPT9:NM_001113494:exon11:c.A1234G:p.M412V,SEPT9:NM_006640:exon11:c.A1672G:p.M558V,SEPT9:NM_001113491:exon12:c.A1726G:p.M576V,SEPT9:NM_001113492:exon12:c.A1234G:p.M412V exonic ENSG00000184640 NA nonsynonymous SNV ENSG00000184640:ENST00000427180:exon10:c.A1390G:p.M464V,ENSG00000184640:ENST00000541152:exon10:c.A973G:p.M325V,ENSG00000184640:ENST00000585930:exon10:c.A1054G:p.M352V,ENSG00000184640:ENST00000591088:exon10:c.A973G:p.M325V,ENSG00000184640:ENST00000592951:exon10:c.A973G:p.M325V,ENSG00000184640:ENST00000329047:exon11:c.A1672G:p.M558V,ENSG00000184640:ENST00000423034:exon11:c.A1705G:p.M569V,ENSG00000184640:ENST00000427674:exon11:c.A1234G:p.M412V,ENSG00000184640:ENST00000588690:exon11:c.A1234G:p.M412V,ENSG00000184640:ENST00000590294:exon11:c.A1672G:p.M558V,ENSG00000184640:ENST00000591198:exon11:c.A1669G:p.M557V,ENSG00000184640:ENST00000427177:exon12:c.A1726G:p.M576V,ENSG00000184640:ENST00000431235:exon12:c.A1234G:p.M412V,ENSG00000184640:ENST00000449803:exon12:c.A1234G:p.M412V NA NA 17q25.3 NA NA NA NA rs2627223 0.92 0.92 0.914 0.90655 0.9364 1 0.928 0.7542 0.9703 0.94 1 0.92 0.78 0.9371 1 1 T 0.001 B 0.0 B 0.337 N 1.000 P -1.78 N 1.55 T -0.966 T 0.000 T 0.02 -1.537 0.016 2.77 0.113 0.038 6.896 -1.536766 NA 0.16 0.939976 0.797513 NA NA NA 5.5198574 1108 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 1108 7 150742388 150742388 A C exonic ABCB8 NA synonymous SNV ABCB8:NM_007188:exon16:c.A2109C:p.P703P exonic ENSG00000197150 NA synonymous SNV ENSG00000197150:ENST00000542328:exon15:c.A1845C:p.P615P,ENSG00000197150:ENST00000358849:exon16:c.A2109C:p.P703P,ENSG00000197150:ENST00000498578:exon16:c.A2034C:p.P678P,ENSG00000197150:ENST00000297504:exon17:c.A2160C:p.P720P NA NA 7q36.1 NA NA NA NA rs61741011 0.06 0.06 0.054 0.0593051 0.0507 0.0615 0.049 0.0802 0.045 0.05 0.08 0.05 0.07 0.0524 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 0.221512 NA NA 0.044535 0.061961 NA 0.072 NA 5.5190316 1108 1 156215899 156215899 G A UTR5 PAQR6 NM_024897:c.-260C>T,NM_001272109:c.-1255C>T,NM_001272107:c.-260C>T,NM_001272106:c.-462C>T NA NA exonic ENSG00000160781 NA synonymous SNV ENSG00000160781:ENST00000340183:exon2:c.C243T:p.S81S NA NA 1q22 NA Name=Pol2,Pol2(phosphoS2) Name=54 NA rs2075165 0.47 0.47 0.44 0.479832 0.4592 0.4812 0.6369 0.3858 0.5153 0.46 0.48 0.59 0.36 0.5151 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.020684 2.020684 NA 0.50686 0.409215 NA 0.326 NA 5.51884 1108 13 25020863 25020863 G A exonic PARP4 NA nonsynonymous SNV PARP4:NM_006437:exon27:c.C3322T:p.R1108C exonic ENSG00000102699 NA nonsynonymous SNV ENSG00000102699:ENST00000381989:exon27:c.C3322T:p.R1108C NA NA 13q12.12 Score=867;Name=V$SOX9_B1 NA NA NA rs9318554 0.89 0.89 0.875 0.876597 0.9404 0.9663 0.9395 0.6679 0.956 0.95 0.98 0.94 0.65 0.9295 0.98 0.16 T 0.0 B 0.0 B 0.361 N 1.000 P -0.345 N -0.08 T -0.963 T 0.000 T 0.084 -0.129 3.369 -0.387 -0.157 -0.218 1.916 -0.128732 NA 0.29 0.944884 0.707444 NA 0.812 NA 5.5185494 1108 21 35237608 35237608 T C exonic ITSN1 NA synonymous SNV ITSN1:NM_003024:exon32:c.T4044C:p.D1348D exonic ENSG00000205726 NA synonymous SNV ENSG00000205726:ENST00000437442:exon30:c.T4029C:p.D1343D,ENSG00000205726:ENST00000399367:exon31:c.T4029C:p.D1343D,ENSG00000205726:ENST00000381285:exon32:c.T4044C:p.D1348D,ENSG00000205726:ENST00000381318:exon32:c.T4044C:p.D1348D Score=420;Name=lod=68 NA 21q22.11 NA NA NA NA rs9976801 0.81 0.81 0.82 0.831669 0.6978 0.9425 0.6254 0.9561 0.8333 0.7 0.95 0.65 0.93 0.7681 0.95 . . . . . . . . 0.000 P . . . . . . . . . 1.157 9.713 -0.181 -0.299 -0.664 12.812 1.157498 NA NA 0.682379 0.91852 NA 0.746 NA 5.5183876 1108 17 1424948 1424948 A G intronic PITPNA NA NA NA intronic ENSG00000174238 NA NA NA Score=587;Name=lod=324 NA 17p13.3 NA Name=CTCF Name=4 NA rs2277669 0.56 0.56 0.572 0.534944 0.504 0.5883 0.4914 0.5968 0.4591 0.52 0.61 0.48 0.62 0.4982 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.885294 NA NA 0.47957 0.612862 NA 0.609 NA 5.51823 1108 2 223783841 223783841 G A exonic ACSL3 NA synonymous SNV ACSL3:NM_203372:exon6:c.G726A:p.P242P,ACSL3:NM_004457:exon7:c.G726A:p.P242P exonic ENSG00000123983 NA synonymous SNV ENSG00000123983:ENST00000540115:exon4:c.G270A:p.P90P,ENSG00000123983:ENST00000392066:exon6:c.G726A:p.P242P,ENSG00000123983:ENST00000357430:exon7:c.G726A:p.P242P NA NA 2q36.1 NA NA NA NA rs13000358 0.02 0.02 0.022 0.0225639 0.0537 NA 0.0346 0.0113 0.0204 0.04 NA 0.04 0.01 0.0406 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 -0.194159 NA NA 0.054186 0.019292 NA NA NA 5.5181806 1108 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 1108 13 113053470 113053470 T A exonic SPACA7 NA nonsynonymous SNV SPACA7:NM_145248:exon4:c.T332A:p.V111D exonic ENSG00000153498 NA nonsynonymous SNV ENSG00000153498:ENST00000375699:exon3:c.T239A:p.V80D,ENSG00000153498:ENST00000283550:exon4:c.T332A:p.V111D,ENSG00000153498:ENST00000443541:exon5:c.T290A:p.V97D,ENSG00000153498:ENST00000414180:exon6:c.T296A:p.V99D NA NA 13q34 NA NA NA NA rs10816 0.63 0.63 0.649 0.666933 0.5716 0.624 0.6081 0.7905 0.684 0.56 0.6 0.63 0.78 0.6411 0.78 0.71 T 0.0 B 0.0 B . . 1.000 P -0.205 N 1.06 T -0.975 T 0.000 T 0.395 -0.776 0.743 0.446 -0.169 -0.204 0.529 -0.775762 NA 0.53 0.602907 0.781888 ID=COSM1179757;OCCURENCE=1(prostate) 0.775 NA 5.5177264 1108 1 46496709 46496709 A G exonic MAST2 NA synonymous SNV MAST2:NM_015112:exon23:c.A2739G:p.S913S exonic ENSG00000086015 NA synonymous SNV ENSG00000086015:ENST00000372009:exon22:c.A2529G:p.S843S,ENSG00000086015:ENST00000361297:exon23:c.A2739G:p.S913S NA NA 1p34.1 Score=949;Name=V$IK2_01 NA Name=10 NA rs925524 0.68 0.68 0.657 0.64397 0.7396 0.6984 0.6297 0.5794 0.5869 0.74 0.69 0.67 0.59 0.6908 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788811 NA NA 0.718743 0.630626 NA 0.551 NA 5.5175236 1108 5 73181913 73181913 T C exonic ARHGEF28 NA synonymous SNV ARHGEF28:NM_001244364:exon17:c.T2355C:p.A785A,ARHGEF28:NM_001080479:exon25:c.T3294C:p.A1098A,ARHGEF28:NM_001177693:exon25:c.T3294C:p.A1098A exonic ENSG00000214944 NA synonymous SNV ENSG00000214944:ENST00000512883:exon1:c.T186C:p.A62A,ENSG00000214944:ENST00000296799:exon17:c.T2355C:p.A785A,ENSG00000214944:ENST00000426542:exon24:c.T3294C:p.A1098A,ENSG00000214944:ENST00000437974:exon24:c.T3294C:p.A1098A,ENSG00000214944:ENST00000287898:exon25:c.T3294C:p.A1098A,ENSG00000214944:ENST00000296794:exon25:c.T3294C:p.A1098A,ENSG00000214944:ENST00000513042:exon25:c.T3294C:p.A1098A,ENSG00000214944:ENST00000545377:exon25:c.T3294C:p.A1098A NA NA 5q13.2 NA NA NA NA rs61734875 0.03 0.03 0.023 0.0163738 0.0586 0.001 0.0187 NA 0.0092 0.06 0.0017 0.03 NA 0.0374 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 1.059088 NA NA 0.05332 0.006034 NA 0.014 NA 5.5173466 1108 9 37501844 37501844 G A intronic POLR1E NA NA NA intronic ENSG00000137054 NA NA NA Score=483;Name=lod=122 NA 9p13.2 Score=909;Name=V$AREB6_02 NA NA NA rs2296777 0.16 0.16 0.14 0.141573 0.1421 0.2321 0.2522 0.034 0.1145 0.14 0.21 0.21 0.08 0.1756 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.468094 2.468094 NA 0.165814 0.053336 NA 0.087 NA 5.516486 1108 9 139368681 139368681 G A exonic SEC16A NA synonymous SNV SEC16A:NM_001276418:exon2:c.C3387T:p.S1129S,SEC16A:NM_014866:exon3:c.C3387T:p.S1129S exonic ENSG00000148396 NA synonymous SNV ENSG00000148396:ENST00000290037:exon1:c.C2853T:p.S951S,ENSG00000148396:ENST00000313050:exon1:c.C3387T:p.S1129S,ENSG00000148396:ENST00000371706:exon1:c.C2853T:p.S951S,ENSG00000148396:ENST00000431893:exon1:c.C2853T:p.S951S NA NA 9q34.3 NA NA NA NA rs45459100 0.02 0.02 0.015 0.0211661 0.0408 0.001 0.0259 0.0023 0.044 0.05 NA 0.03 0.01 0.0479 0.062 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.074898 NA NA 0.061586 0.011713 NA 0.014 NA 5.5163806 1108 14 22670975 22670975 G A intergenic OR4E2,DAD1 dist=536737;dist=362832 NA NA splicing ENSG00000211812 ENST00000390460:exon2:c.41-1G>A NA NA Score=251;Name=lod=14 NA 14q11.2 Score=842;Name=V$MRF2_01 NA NA NA rs2242542 0.28 0.28 0.256 0.291134 0.1859 0.6111 0.2767 0.0825 0.362 0.19 0.59 0.29 0.07 0.2664 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.544729 NA NA 0.198556 0.110082 NA 0.123 NA 5.5158107 1108 19 868115 868115 C T exonic MED16 NA nonsynonymous SNV MED16:NM_005481:exon16:c.G2620A:p.E874K exonic ENSG00000175221 NA nonsynonymous SNV ENSG00000175221:ENST00000589119:exon15:c.G2620A:p.E874K,ENSG00000175221:ENST00000325464:exon16:c.G2620A:p.E874K NA NA 19p13.3 NA NA NA NA rs13090 0.25 0.25 0.24 0.239816 0.2783 0.0327 0.2075 0.4334 0.1748 0.28 0.04 0.23 0.46 0.2577 0.46 0.16 T 0.008 B 0.001 B 0.000 U 1.000 P 0 N 1.43 T -0.919 T 0.000 T 0.141 0.659 7.534 -0.498 -0.185 -0.075 . 0.659189 NA 0 0.281607 0.394401 ID=COSM440700;OCCURENCE=1(breast) 0.326 NA 5.5157264 1108 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 1108 1 26527810 26527810 G A intronic CATSPER4 NA NA NA intronic ENSG00000188782 NA NA NA NA NA 1p36.11 NA Name=Pol2,Max,Rad21,CHD2_(N-1250),TAL1_(SC-12984),HDAC2_(SC-6296),E2F6,E2F6_(H-50),CTCF,HMGN3,Pol2(b),c-Jun,CCNT2,Egr-1,NF-YB,eGFP-JunB,CTCF_(SC-5916),GABP,PU.1,HEY1,ELF1_(SC-631),CTCFL_(SC-98982) 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 1109 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 1109 3 142277536 142277536 A G exonic ATR NA synonymous SNV ATR:NM_001184:exon8:c.T1815C:p.D605D exonic ENSG00000175054 NA synonymous SNV ENSG00000175054:ENST00000515149:exon4:c.T666C:p.D222D,ENSG00000175054:ENST00000383101:exon7:c.T1623C:p.D541D,ENSG00000175054:ENST00000350721:exon8:c.T1815C:p.D605D NA NA 3q23 Score=779;Name=V$MEF2_03 NA NA NA rs2227929 0.35 0.35 0.324 0.310703 0.3867 0.3552 0.3516 0.2042 0.3016 0.39 0.39 0.38 0.23 0.3516 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.234354 NA NA 0.413953 0.212665 NA 0.268 NA 5.5144136 1109 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 1109 1 26527809 26527809 A C intronic CATSPER4 NA NA NA intronic ENSG00000188782 NA NA NA NA NA 1p36.11 NA Name=Pol2,Max,Rad21,CHD2_(N-1250),TAL1_(SC-12984),HDAC2_(SC-6296),E2F6,E2F6_(H-50),CTCF,HMGN3,c-Jun,Pol2(b),CCNT2,Egr-1,NF-YB,CTCF_(SC-5916),eGFP-JunB,PU.1,HEY1,ELF1_(SC-631),CTCFL_(SC-98982) 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 1109 20 5903192 5903192 G A exonic CHGB NA synonymous SNV CHGB:NM_001819:exon4:c.G402A:p.A134A exonic ENSG00000089199 NA synonymous SNV ENSG00000089199:ENST00000378961:exon4:c.G402A:p.A134A,ENSG00000089199:ENST00000455042:exon5:c.G342A:p.A114A NA NA 20p12.3 NA NA NA NA rs78101688 0.03 0.03 0.026 0.0205671 0.0557 NA 0.0418 0.0023 0.0153 0.06 NA 0.04 0.0041 0.0429 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 0.474613 NA NA 0.054302 0.011575 NA 0.029 NA 5.5137646 1109 17 42449789 42449789 G A exonic ITGA2B NA synonymous SNV ITGA2B:NM_000419:exon30:c.C3063T:p.V1021V exonic ENSG00000005961 NA synonymous SNV ENSG00000005961:ENST00000353281:exon29:c.C2961T:p.V987V,ENSG00000005961:ENST00000262407:exon30:c.C3063T:p.V1021V NA NA 17q21.31 Score=799;Name=V$PAX5_02 NA NA NA rs5910 0.4 0.4 0.404 0.397364 0.3887 0.4484 0.366 0.4266 0.3364 0.4 0.4 0.36 0.43 0.3869 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.573061 NA NA 0.377442 0.392192 NA 0.529 NA 5.5136246 1109 3 130174334 130174334 G A exonic COL6A5 NA nonsynonymous SNV COL6A5:NM_153264:exon37:c.G6614A:p.G2205D exonic ENSG00000172752 NA nonsynonymous SNV ENSG00000172752:ENST00000512482:exon2:c.G119A:p.G40D,ENSG00000172752:ENST00000373157:exon3:c.G443A:p.G148D,ENSG00000172752:ENST00000265379:exon37:c.G6614A:p.G2205D,ENSG00000172752:ENST00000312481:exon37:c.G6614A:p.G2205D,ENSG00000172752:ENST00000432398:exon37:c.G6614A:p.G2205D NA NA 3q22.1 NA NA NA NA rs819085 0.92 0.92 0.911 0.903155 0.9433 0.9563 0.9035 0.829 0.907 0.96 0.95 0.92 0.82 0.9319 0.96 0.49 T 0.004 B 0.009 B 0.185 N 1.000 P 0 N -0.71 T -0.985 T 0.000 T 0.422 0.156 4.84 1.81 -0.022 1.082 1.375 0.156217 NA NA 0.945893 0.859088 NA 0.913 NA 5.5122404 1109 9 126129904 126129904 C T exonic CRB2 NA synonymous SNV CRB2:NM_173689:exon6:c.C993T:p.N331N exonic ENSG00000148204 NA synonymous SNV ENSG00000148204:ENST00000359999:exon6:c.C993T:p.N331N,ENSG00000148204:ENST00000373631:exon6:c.C993T:p.N331N Score=352;Name=lod=36 NA 9q33.3 NA NA NA NA rs10818812 0.3 0.3 0.286 0.283946 0.3767 0.38 0.3228 0.087 0.3282 0.39 0.34 0.36 0.08 0.4055 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.02059 NA NA 0.372608 0.113419 NA 0.196 NA 5.5118586 1109 19 41932275 41932275 T C exonic B3GNT8 NA nonsynonymous SNV B3GNT8:NM_198540:exon3:c.A409G:p.S137G exonic ENSG00000177191 NA nonsynonymous SNV ENSG00000177191:ENST00000321702:exon3:c.A409G:p.S137G NA NA 19q13.2 NA NA NA NA rs284662 0.61 0.61 0.613 0.621805 0.5974 0.4335 0.4928 0.8646 0.6043 0.59 0.46 0.57 0.86 0.6066 0.86 0.15 T 0.0 B 0.0 B 0.325 N 1.000 P 0 N 1.32 T -1.069 T 0.000 T 0.026 -0.101 3.503 0.562 0.103 -0.099 4.018 -0.101314 NA 0.64 0.617613 0.820618 ID=COSM439593;OCCURENCE=1(breast) 0.341 NA 5.5117204 1109 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 1109 1 223567267 223567267 C T exonic C1orf65 NA synonymous SNV C1orf65:NM_152610:exon1:c.C450T:p.P150P exonic ENSG00000178395 NA synonymous SNV ENSG00000178395:ENST00000366875:exon1:c.C450T:p.P150P NA NA 1q41 NA NA NA NA rs6679661 0.07 0.07 0.055 0.0872604 0.0398 0.13 0.0677 0.1067 0.0798 0.04 0.12 0.06 0.07 0.0783 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 0.264159 NA NA 0.037343 0.10355 NA 0.022 NA 5.5112236 1109 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 1109 1 10511544 10511544 C T exonic APITD1-CORT,CORT NA synonymous SNV CORT:NM_001302:exon2:c.C210T:p.A70A,APITD1-CORT:NM_001243768:exon4:c.C324T:p.A108A,APITD1-CORT:NM_198544:exon5:c.C387T:p.A129A exonic ENSG00000175279,ENSG00000241563,ENSG00000251503 NA synonymous SNV ENSG00000241563:ENST00000320498:exon2:c.C360T:p.A120A,ENSG00000241563:ENST00000377049:exon2:c.C210T:p.A70A,ENSG00000251503:ENST00000400900:exon5:c.C387T:p.A129A,ENSG00000175279:ENST00000602787:exon5:c.C387T:p.A129A NA NA 1p36.22 NA NA Name=69 NA rs628462 0.33 0.33 0.33 0.28754 0.3907 0.4871 0.3112 0.0212 0.319 0.39 0.51 0.34 0.03 0.3679 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.057716 NA NA 0.397161 0.079736 ID=COSM1332195,COSM1332194;OCCURENCE=1(large_intestine) 0.181 NA 5.5109056 1109 19 56321414 56321414 C A exonic NLRP11 NA nonsynonymous SNV NLRP11:NM_145007:exon5:c.G562T:p.A188S exonic ENSG00000179873 NA nonsynonymous SNV ENSG00000179873:ENST00000589824:exon2:c.G562T:p.A188S,ENSG00000179873:ENST00000592953:exon2:c.G265T:p.A89S,ENSG00000179873:ENST00000589093:exon3:c.G562T:p.A188S,ENSG00000179873:ENST00000590409:exon4:c.G265T:p.A89S,ENSG00000179873:ENST00000360133:exon5:c.G562T:p.A188S,ENSG00000179873:ENST00000443188:exon5:c.G562T:p.A188S,ENSG00000179873:ENST00000593244:exon5:c.G562T:p.A188S NA NA 19q13.43 NA Name=CTCF NA NA rs299163 0.97 0.97 0.974 0.977835 0.9324 0.999 0.9611 0.997 0.9888 0.93 1 0.95 1 0.9559 1 0.57 T 0.0 B 0.001 B . . 1.000 P -0.205 N -1.14 T -0.984 T 0.000 T 0.06 -1.272 0.044 0.306 -0.337 0.833 9.495 -1.27208 NA 0.64 0.934186 0.988652 NA 0.899 NA 5.5108474 1109 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 1109 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 1109 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 1109 17 39633317 39633317 A G exonic KRT35 NA synonymous SNV KRT35:NM_002280:exon7:c.T1359C:p.G453G exonic ENSG00000197079 NA synonymous SNV ENSG00000197079:ENST00000246639:exon7:c.T1269C:p.G423G,ENSG00000197079:ENST00000393989:exon7:c.T1359C:p.G453G Score=391;Name=lod=52 NA 17q21.2 Score=793;Name=V$OLF1_01 NA NA NA rs2239711 0.7 0.7 0.663 0.73103 0.7107 0.6419 0.6729 0.739 0.8742 0.71 0.6 0.74 0.75 0.7288 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 1.216303 NA NA 0.7171 0.739451 NA 0.703 NA 5.5100666 1109 6 31111180 31111180 T C exonic CCHCR1 NA synonymous SNV CCHCR1:NM_001105563:exon16:c.A2070G:p.L690L,CCHCR1:NM_001105564:exon16:c.A2178G:p.L726L,CCHCR1:NM_019052:exon16:c.A1911G:p.L637L exonic ENSG00000204536 NA synonymous SNV ENSG00000204536:ENST00000396263:exon14:c.A1752G:p.L584L,ENSG00000204536:ENST00000376266:exon16:c.A1911G:p.L637L,ENSG00000204536:ENST00000396268:exon16:c.A2178G:p.L726L,ENSG00000204536:ENST00000451521:exon16:c.A2070G:p.L690L Score=393;Name=lod=53 NA 6p21.33 NA NA Name=89 NA rs130073 0.72 0.72 0.719 0.720647 0.7386 0.6964 0.7738 0.7186 0.6922 0.73 0.67 0.78 0.74 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 0.580439 NA NA 0.709487 0.738727 NA 0.754 NA 5.5092796 1109 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 1109 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 1109 1 22154387 22154387 G A exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon91:c.C12558T:p.S4186S exonic ENSG00000142798 NA synonymous SNV ENSG00000142798:ENST00000374695:exon91:c.C12558T:p.S4186S NA NA 1p36.12 NA NA NA NA rs11552570 0.02 0.02 0.016 0.0291534 0.0398 NA 0.0231 0.0015 0.09 0.04 NA 0.03 0.0041 0.0699 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 0.327884 NA NA 0.048511 0.008632 NA 0.014 NA 5.5084556 1109 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 1109 17 3214314 3214314 G A ncRNA_exonic OR3A4P NA NA NA ncRNA_exonic ENSG00000180068 NA NA NA Score=435;Name=lod=78 NA 17p13.3 NA NA NA NA rs231677 0.04 0.04 0.035 0.033746 0.0527 NA 0.0403 0.0613 0.0072 0.05 NA 0.07 0.05 0.0441 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 0.183061 NA NA 0.062209 0.050159 NA 0.072 NA 5.5076576 1109 12 32135441 32135441 T C exonic KIAA1551 NA nonsynonymous SNV KIAA1551:NM_018169:exon4:c.T1552C:p.S518P exonic ENSG00000174718 NA nonsynonymous SNV ENSG00000174718:ENST00000381054:exon3:c.T1552C:p.S518P,ENSG00000174718:ENST00000312561:exon4:c.T1552C:p.S518P NA NA 12p11.21 NA NA NA NA rs3759301 0.95 0.95 0.941 0.945088 0.9404 0.8839 0.9597 0.9977 0.9315 0.94 0.89 0.97 0.99 0.9442 0.99 . . 0.0 B 0.0 B . . 1.000 P 0 N 3.99 T -1.037 T 0.000 T 0.391 1.067 9.358 2.88 0.085 -0.627 4.431 1.067348 NA 0.38 0.942093 0.989106 NA 0.906 NA 5.5066404 1109 6 30698541 30698541 A G intronic FLOT1 NA NA NA intronic ENSG00000137312 NA NA NA NA NA 6p21.33 NA Name=HA-E2F1 Name=5 NA rs1064627 0.18 0.18 0.195 0.192891 0.1541 0.2153 0.1484 0.2595 0.1513 0.14 0.21 0.16 0.22 0.1678 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.829353 NA NA 0.171465 0.260093 NA 0.232 NA 5.506635 1109 5 75923294 75923294 T G exonic IQGAP2 NA nonsynonymous SNV IQGAP2:NM_006633:exon14:c.T1581G:p.D527E exonic ENSG00000145703 NA nonsynonymous SNV ENSG00000145703:ENST00000396234:exon3:c.T240G:p.D80E,ENSG00000145703:ENST00000502745:exon3:c.T240G:p.D80E,ENSG00000145703:ENST00000509074:exon3:c.T240G:p.D80E,ENSG00000145703:ENST00000513534:exon3:c.T240G:p.D80E,ENSG00000145703:ENST00000514001:exon3:c.T240G:p.D80E,ENSG00000145703:ENST00000505766:exon13:c.T1431G:p.D477E,ENSG00000145703:ENST00000274364:exon14:c.T1581G:p.D527E,ENSG00000145703:ENST00000379730:exon14:c.T258G:p.D86E,ENSG00000145703:ENST00000514350:exon14:c.T1500G:p.D500E NA NA 5q13.3 Score=806;Name=V$XBP1_01 NA NA NA rs2431352 0.9 0.9 0.927 0.902356 0.9602 0.8641 0.732 0.9365 0.9571 0.95 0.88 0.78 0.94 0.9132 0.95 1 T 0.0 B 0.001 B 0.062 N 1.000 P -0.6 N 1.67 T -0.964 T 0.000 T 0.107 -1.754 0.01 -1.2 -0.233 0.670 0.239 -1.754152 NA 1 0.953721 0.928961 NA 0.884 NA 5.5062124 1109 22 44287062 44287062 A G exonic PNPLA5 NA synonymous SNV PNPLA5:NM_138814:exon2:c.T306C:p.D102D exonic ENSG00000100341 NA synonymous SNV ENSG00000100341:ENST00000216177:exon2:c.T306C:p.D102D,ENSG00000100341:ENST00000438734:exon2:c.T306C:p.D102D,ENSG00000100341:ENST00000597664:exon2:c.T306C:p.D102D NA NA 22q13.31 NA NA Name=6 NA rs2071884 0.35 0.35 0.329 0.354034 0.3877 0.4335 0.3242 0.2027 0.4632 0.38 0.41 0.38 0.2 0.3925 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.779 NA NA 0.380349 0.250454 ID=COSM445094;OCCURENCE=3(breast) 0.37 NA 5.5061176 1109 12 49312593 49312593 A G exonic CCDC65 NA synonymous SNV CCDC65:NM_033124:exon6:c.A933G:p.R311R exonic ENSG00000139537 NA synonymous SNV ENSG00000139537:ENST00000552942:exon4:c.A624G:p.R208R,ENSG00000139537:ENST00000266984:exon6:c.A933G:p.R311R,ENSG00000139537:ENST00000320516:exon6:c.A933G:p.R311R Score=410;Name=lod=62 NA 12q13.12 NA NA NA NA rs10875893 0.35 0.35 0.316 0.307708 0.4095 0.4415 0.4942 0.1021 0.2106 0.4 0.46 0.44 0.1 0.3693 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369998 NA NA 0.382326 0.157966 NA 0.232 NA 5.5055406 1109 14 96944878 96944878 G A exonic AK7 NA synonymous SNV AK7:NM_152327:exon15:c.G1632A:p.A544A exonic ENSG00000140057 NA synonymous SNV ENSG00000140057:ENST00000267584:exon15:c.G1632A:p.A544A NA NA 14q32.2 NA NA NA NA rs76293597 0.05 0.05 0.035 0.0461262 0.0577 0.0556 0.0735 0.0045 0.0613 0.06 0.06 0.07 0.01 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 -1.122397 NA NA 0.051395 0.014072 NA 0.029 NA 5.5052716 1110 19 56538832 56538832 C T exonic NLRP5 NA synonymous SNV NLRP5:NM_153447:exon7:c.C1233T:p.D411D exonic ENSG00000171487 NA synonymous SNV ENSG00000171487:ENST00000390649:exon7:c.C1233T:p.D411D NA NA 19q13.43 NA NA NA NA rs1808663 0.05 0.05 0.046 0.0419329 0.0616 NA 0.0735 0.0696 0.0051 0.06 NA 0.08 0.08 0.048 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 -0.25872 NA NA 0.052788 0.071463 ID=COSM1631109;OCCURENCE=1(liver) 0.08 NA 5.5042786 1110 2 219140288 219140288 G C exonic TMBIM1 NA synonymous SNV TMBIM1:NM_022152:exon12:c.C846G:p.P282P exonic ENSG00000135926 NA synonymous SNV ENSG00000135926:ENST00000445635:exon11:c.C324G:p.P108P,ENSG00000135926:ENST00000258412:exon12:c.C846G:p.P282P,ENSG00000135926:ENST00000396809:exon12:c.C846G:p.P282P,ENSG00000135926:ENST00000444881:exon13:c.C846G:p.P282P NA NA 2q35 NA NA Name=3 NA rs2292550 0.34 0.34 0.304 0.332069 0.3708 0.379 0.402 0.2035 0.3681 0.37 0.37 0.38 0.22 0.3809 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.635131 NA NA 0.411047 0.268498 NA 0.312 NA 5.5039196 1110 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 1110 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 1110 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 1110 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=YY1,ELK4,Pol2(b),CCNT2,TBP,GTF2F1_(RAP-74),c-Myc,Oct-2,SP1,IRF1,Max,YY1_(C-20),PAX5-C20,Mxi1_(bHLH),NRSF,Sin3Ak-20,Pol2-4H8,GABP,MEF2A,HMGN3,TAF1,Znf143_(16618-1-AP),BCLAF1_(M33-P5B11),HEY1,ELF1_(SC-631),Pol2,Pol2(phosphoS2),POU2F2,E2F6_(H-50),TCF12,TAF7_(SQ-8) 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 1110 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 1110 3 141327474 141327474 G A exonic RASA2 NA synonymous SNV RASA2:NM_006506:exon21:c.G2160A:p.L720L exonic ENSG00000155903 NA synonymous SNV ENSG00000155903:ENST00000286364:exon21:c.G2160A:p.L720L,ENSG00000155903:ENST00000452898:exon21:c.G2163A:p.L721L NA NA 3q23 NA NA Name=10 NA rs295323 0.46 0.46 0.445 0.450479 0.3797 0.2937 0.4625 0.7315 0.2965 0.38 0.33 0.44 0.76 0.3965 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 -1.507965 NA NA 0.388488 0.671357 ID=COSM149482;OCCURENCE=1(stomach) 0.449 NA 5.5019786 1110 2 61607510 61607510 G A intronic USP34 NA NA NA intronic ENSG00000115464 NA NA NA Score=584;Name=lod=316 NA 2p15 NA NA Name=21 NA rs988911 0.17 0.17 0.151 0.196086 0.159 0.2917 0.2262 0.0174 0.3558 0.15 0.31 0.19 0.02 0.2042 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.904526 NA NA 0.135463 0.040415 NA 0.174 NA 5.501337 1110 16 28506872 28506872 A G exonic APOBR NA synonymous SNV APOBR:NM_018690:exon2:c.A510G:p.E170E exonic ENSG00000184730 NA synonymous SNV ENSG00000184730:ENST00000328423:exon2:c.A510G:p.E170E,ENSG00000184730:ENST00000431282:exon2:c.A510G:p.E170E,ENSG00000184730:ENST00000564831:exon2:c.A510G:p.E170E NA NA 16p11.2 NA NA Name=3 NA rs149271 0.29 0.29 0.279 0.294728 0.3479 0.1042 0.4294 0.3888 0.2137 0.36 0.11 0.35 0.35 0.4294 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.090749 2.090749 NA 0.38825 0.382312 NA 0.254 NA 5.5011166 1110 16 84883102 84883102 C T exonic CRISPLD2 NA synonymous SNV CRISPLD2:NM_031476:exon4:c.C471T:p.P157P exonic ENSG00000103196 NA synonymous SNV ENSG00000103196:ENST00000262424:exon4:c.C471T:p.P157P,ENSG00000103196:ENST00000564567:exon4:c.C471T:p.P157P,ENSG00000103196:ENST00000567845:exon4:c.C471T:p.P157P Score=435;Name=lod=78 NA 16q24.1 NA NA Name=2 NA rs8061351 0.6 0.6 0.588 0.59385 0.7326 0.6786 0.6484 0.2882 0.7382 0.73 0.65 0.64 0.31 0.6944 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.891383 NA NA 0.738605 0.341519 NA 0.493 NA 5.5010616 1110 9 131873256 131873256 A C UTR5 PPP2R4 NM_021131:c.-624A>C NA NA UTR5 ENSG00000119383 ENST00000358994:c.-624A>C,ENST00000455292:c.-624A>C NA NA NA NA 9q34.11 NA Name=TAL1_(SC-12984),IRF1,Oct-2,c-Myc,NRSF,eGFP-JunD,Sin3Ak-20,ZBTB7A_(SC-34508),Egr-1,TBP,Pol2(b),Pol2(phosphoS2),Pol2,POU2F2,TAF7_(SQ-8),TCF12,Pol2-4H8,eGFP-JunB,BCL3,NFKB,TAF1,NELFe,ETS1,ELF1_(SC-631),HEY1 Name=148 NA rs3118625 0.24 0.24 0.191 0.228834 0.2654 0.2669 0.3069 0.1036 0.2658 0.27 0.27 0.31 0.11 0.2713 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.665359 NA NA 0.29558 0.145548 NA 0.109 NA 5.5010534 1110 17 74942478 74942478 C T exonic MGAT5B NA synonymous SNV MGAT5B:NM_198955:exon14:c.C1896T:p.Y632Y,MGAT5B:NM_001199172:exon15:c.C1869T:p.Y623Y,MGAT5B:NM_144677:exon15:c.C1863T:p.Y621Y exonic ENSG00000167889 NA synonymous SNV ENSG00000167889:ENST00000428789:exon14:c.C1896T:p.Y632Y,ENSG00000167889:ENST00000301618:exon15:c.C1863T:p.Y621Y,ENSG00000167889:ENST00000569840:exon16:c.C1869T:p.Y623Y Score=610;Name=lod=403 NA 17q25.2 NA NA NA NA rs8067984 0.4 0.4 0.378 0.35623 0.4026 0.5357 0.2651 0.2451 0.3384 0.4 0.54 0.31 0.28 0.3779 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076283 NA NA 0.385116 0.274626 NA 0.312 NA 5.5010506 1110 11 56058197 56058197 G A exonic OR8H1 NA synonymous SNV OR8H1:NM_001005199:exon1:c.C342T:p.L114L exonic ENSG00000181693 NA synonymous SNV ENSG00000181693:ENST00000313022:exon1:c.C342T:p.L114L NA NA 11q12.1 Score=778;Name=V$EVI1_01 NA NA NA rs1842674 0.41 0.41 0.344 0.429313 0.3708 0.6151 0.5072 0.1861 0.5716 0.36 0.61 0.53 0.16 0.4231 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.521729 NA NA 0.371741 0.213994 NA 0.341 NA 5.5010256 1110 22 22698027 22698027 A G intergenic LOC96610,ZNF280B dist=20703;dist=140745 NA NA exonic ENSG00000223350 NA synonymous SNV ENSG00000223350:ENST00000427632:exon2:c.A315G:p.E105E Score=259;Name=lod=15 NA 22q11.22 NA Name=Pol2,GATA-2,c-Fos,PU.1,BRF2 Name=18 NA rs1894246 1 1 1 0.995607 0.999 0.998 1 0.9939 0.9888 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 0.170632 NA NA NA NA NA 1 NA 5.501 1110 19 56459614 56459614 G C exonic NLRP8 NA nonsynonymous SNV NLRP8:NM_176811:exon1:c.G346C:p.V116L exonic ENSG00000179709 NA nonsynonymous SNV ENSG00000179709:ENST00000291971:exon1:c.G346C:p.V116L,ENSG00000179709:ENST00000590542:exon1:c.G346C:p.V116L NA NA 19q13.43 NA NA NA NA rs306506 0.72 0.72 0.719 0.726837 0.5974 0.8135 0.7579 0.7504 0.7168 0.61 0.83 0.72 0.74 0.652 0.83 0.27 T 0.0 B 0.001 B . . 1.000 P -0.69 N 0.4 T -1.027 T 0.000 T 0.031 -1.364 0.027 1.19 0.092 -0.463 3.560 -1.36383 NA 0.35 0.583837 0.72946 NA 0.543 NA 5.5000964 1110 22 23154582 23154582 G C intergenic GGTLC2,MIR650 dist=164214;dist=10688 NA NA exonic ENSG00000211669 NA nonsynonymous SNV ENSG00000211669:ENST00000390315:exon2:c.G151C:p.A51P NA NA 22q11.22 NA Name=Pol2 NA NA rs1065464 0.05 0.05 0.032 0.0389377 0.1083 NA 0.0562 0.0151 0.0276 0.1 NA 0.06 0.02 0.0971 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.408835 1.408835 0.04 0.127845 0.032241 NA 0.072 NA 5.5000884 1110 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 1110 9 109689859 109689859 T C exonic ZNF462 NA synonymous SNV ZNF462:NM_021224:exon3:c.T3666C:p.N1222N exonic ENSG00000148143 NA synonymous SNV ENSG00000148143:ENST00000374686:exon1:c.T315C:p.N105N,ENSG00000148143:ENST00000441147:exon1:c.T201C:p.N67N,ENSG00000148143:ENST00000277225:exon3:c.T3666C:p.N1222N,ENSG00000148143:ENST00000457913:exon3:c.T3666C:p.N1222N NA NA 9q31.2 Score=709;Name=V$HOX13_01 NA NA NA rs3814540 0.48 0.48 0.491 0.51877 0.3936 0.4802 0.4481 0.7095 0.4796 0.39 0.45 0.45 0.68 0.4116 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634053 NA NA 0.36186 0.635043 NA 0.522 NA 5.4996066 1110 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 1110 5 40998235 40998235 C T exonic MROH2B NA synonymous SNV MROH2B:NM_173489:exon42:c.G4677A:p.P1559P exonic ENSG00000171495 NA synonymous SNV ENSG00000171495:ENST00000506092:exon32:c.G3342A:p.P1114P,ENSG00000171495:ENST00000399564:exon42:c.G4677A:p.P1559P Score=454;Name=lod=93 NA 5p13.1 NA NA NA NA rs722575 0.34 0.34 0.306 0.326478 0.3936 0.2956 0.3646 0.295 0.3047 0.4 0.28 0.39 0.28 0.3737 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.941285 NA NA 0.399976 0.306535 ID=COSM149820;OCCURENCE=1(stomach) 0.312 NA 5.4993906 1110 14 78184566 78184566 C A exonic SNW1 NA synonymous SNV SNW1:NM_012245:exon14:c.G1476T:p.V492V exonic ENSG00000100603 NA nonsynonymous SNV ENSG00000100603:ENST00000555761:exon13:c.G1556T:p.C519F Score=707;Name=lod=1000 NA 14q24.3 NA NA NA NA rs176960 0.84 0.84 0.831 0.84365 0.832 0.7262 0.8343 0.9228 0.8763 0.85 0.71 0.86 0.93 0.8385 0.93 . . 0.0 B 0.0 B . . 0.000 P . . . . -1.008 T 0.000 T . -1.014 0.24 1.83 -0.167 0.104 10.421 -1.014224 NA NA 0.830233 0.887653 NA 0.761 NA 5.499267 1110 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 1110 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 1110 11 66328055 66328055 A G exonic ACTN3 NA unknown UNKNOWN exonic ENSG00000248746 NA unknown UNKNOWN Score=431;Name=lod=75 NA 11q13.2 NA NA NA NA rs2229455 0.16 0.16 0.141 0.16274 0.168 0.1815 0.1023 0.1732 0.1667 0.17 0.16 0.13 0.15 0.1625 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.532169 NA NA 0.170763 0.136679 NA 0.13 NA 5.498737 1110 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 1110 1 109884775 109884775 T G exonic SORT1 NA synonymous SNV SORT1:NM_001205228:exon9:c.A558C:p.T186T,SORT1:NM_002959:exon9:c.A969C:p.T323T exonic ENSG00000134243 NA synonymous SNV ENSG00000134243:ENST00000256637:exon9:c.A969C:p.T323T,ENSG00000134243:ENST00000538502:exon9:c.A558C:p.T186T Score=547;Name=lod=223 NA 1p13.3 Score=841;Name=V$FAC1_01 NA NA NA rs2228604 0.72 0.72 0.669 0.685503 0.7127 0.9563 0.8271 0.3593 0.7188 0.7 0.96 0.83 0.37 0.729 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 1.362843 1.362843 NA 0.727093 0.419882 NA 0.681 NA 5.4978736 1110 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 1110 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$AP1FJ_Q2 NA NA NA rs2273544 0.73 0.73 0.725 0.717053 0.7356 0.881 0.67 0.6536 0.6483 0.73 0.88 0.67 0.62 0.7043 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.510489 NA NA 0.729409 0.672343 NA 0.688 NA 5.4973576 1110 2 241531479 241531479 A G exonic CAPN10 NA synonymous SNV CAPN10:NM_023083:exon4:c.A600G:p.P200P,CAPN10:NM_023085:exon4:c.A600G:p.P200P exonic ENSG00000142330 NA nonsynonymous SNV ENSG00000142330:ENST00000270361:exon4:c.A589G:p.R197G NA NA 2q37.3 NA NA NA NA rs3792269 0.11 0.11 0.082 0.117612 0.159 0.0972 0.1254 0.0287 0.2106 0.18 0.09 0.13 0.02 0.1823 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.48521 NA 0.45 0.161508 0.052022 NA 0.203 NA 5.497192 1110 19 35741456 35741456 T C exonic LSR NA synonymous SNV LSR:NM_001260489:exon2:c.T492C:p.V164V,LSR:NM_001260490:exon2:c.T492C:p.V164V,LSR:NM_015925:exon2:c.T492C:p.V164V,LSR:NM_205834:exon2:c.T492C:p.V164V,LSR:NM_205835:exon2:c.T492C:p.V164V exonic ENSG00000105699 NA synonymous SNV ENSG00000105699:ENST00000347609:exon2:c.T381C:p.V127V,ENSG00000105699:ENST00000354900:exon2:c.T492C:p.V164V,ENSG00000105699:ENST00000360798:exon2:c.T492C:p.V164V,ENSG00000105699:ENST00000361790:exon2:c.T492C:p.V164V,ENSG00000105699:ENST00000427250:exon2:c.T348C:p.V116V,ENSG00000105699:ENST00000601623:exon2:c.T270C:p.V90V,ENSG00000105699:ENST00000602122:exon2:c.T492C:p.V164V,ENSG00000105699:ENST00000605618:exon2:c.T369C:p.V123V Score=456;Name=lod=95 NA 19q13.12 Score=803;Name=V$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 1110 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 1110 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=IRF4_(M-17),NFKB,BCL3,ZEB1_(SC-25388),RFX5_(N-494),HMGN3,c-Jun,TAF1,Pol2-4H8,eGFP-JunB,MEF2A,BCL11A,HNF4G_(SC-6558),ETS1,KAP1,HEY1,ELF1_(SC-631),BCLAF1_(M33-P5B11),GATA-1,E2F1,Pbx3,USF-1,Pol2(phosphoS2),POU5F1_(SC-9081),Pol2,FOXA1_(C-20),FOSL2,CHD2_(N-1250),GATA-2,FOXA1_(SC-101058),USF1_(SC-8983),GATA2_(CG2-96),TAF7_(SQ-8),p300,TCF12,HDAC2_(SC-6296),MafK_(ab50322),GTF2B,CTCF,POU2F2,CCNT2,TBP,Egr-1,TR4,PAX5-N19,Pol2(b),PU.1,YY1,BRCA1_(C-1863),NANOG_(SC-33759),AP-2alpha,CEBPB,GTF2F1_(RAP-74),MafK_(SC-477),ZNF263,GR,eGFP-GATA2,BHLHE40,CTCFL_(SC-98982),JunD,SIRT6,SMC3_(ab9263),ZBTB33,YY1_(C-20),Max,GCN5,SRF,SP1,p300_(N-15),c-Myc,Oct-2,BATF,RXRA,eGFP-JunD,SIX5,GATA3_(SC-268),FOSL1_(SC-183),THAP1_(SC-98174),SETDB1,Sin3Ak-20,PAX5-C20,Mxi1_(bHLH),NRSF,MEF2C_(SC-13268),STAT3 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 1110 21 43221826 43221826 T C exonic PRDM15 NA synonymous SNV PRDM15:NM_001040424:exon24:c.A3111G:p.L1037L,PRDM15:NM_022115:exon31:c.A4098G:p.L1366L exonic ENSG00000141956 NA synonymous SNV ENSG00000141956:ENST00000447207:exon23:c.A3000G:p.L1000L,ENSG00000141956:ENST00000398548:exon24:c.A3111G:p.L1037L,ENSG00000141956:ENST00000447016:exon24:c.A3000G:p.L1000L,ENSG00000141956:ENST00000422911:exon25:c.A3171G:p.L1057L,ENSG00000141956:ENST00000538201:exon25:c.A3060G:p.L1020L,ENSG00000141956:ENST00000269844:exon31:c.A4098G:p.L1366L,ENSG00000141956:ENST00000433067:exon31:c.A4098G:p.L1366L Score=514;Name=lod=164 NA 21q22.3 Score=782;Name=V$CART1_01 NA NA NA rs2236696 0.75 0.75 0.755 0.788339 0.6978 0.7718 0.6182 0.9569 0.7914 0.7 0.72 0.62 0.93 0.7472 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739431 NA NA 0.72593 0.914435 NA 0.906 NA 5.4957366 1110 10 50740876 50740876 G C exonic CSB-PGBD3,ERCC6 NA synonymous SNV ERCC6:NM_000124:exon2:c.C135G:p.L45L,CSB-PGBD3:NM_001277058:exon2:c.C135G:p.L45L,CSB-PGBD3:NM_001277059:exon2:c.C135G:p.L45L exonic ENSG00000225830,ENSG00000243251,ENSG00000258838 NA synonymous SNV ENSG00000225830:ENST00000355832:exon2:c.C135G:p.L45L,ENSG00000258838:ENST00000447839:exon2:c.C135G:p.L45L,ENSG00000225830:ENST00000462247:exon2:c.C135G:p.L45L,ENSG00000258838:ENST00000515869:exon2:c.C135G:p.L45L,ENSG00000243251:ENST00000603152:exon2:c.C135G:p.L45L NA NA 10q11.23 Score=847;Name=V$P300_01 NA NA NA rs2228524 0.58 0.58 0.585 0.590855 0.7346 0.5079 0.6657 0.3336 0.8231 0.73 0.52 0.67 0.36 0.6946 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.152938 NA NA 0.74186 0.404448 NA 0.616 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116995.2;CLNDSDB=.;CLNDSDBID=. 5.4956066 1110 4 141590135 141590135 C T exonic TBC1D9 NA synonymous SNV TBC1D9:NM_015130:exon9:c.G1524A:p.T508T exonic ENSG00000109436 NA synonymous SNV ENSG00000109436:ENST00000442267:exon9:c.G1524A:p.T508T NA NA 4q31.21 NA NA NA NA rs61742550 0.03 0.03 0.017 0.0183706 0.0636 NA 0.0216 0.0015 0.0112 0.06 NA 0.01 0.0041 0.0447 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 0.89405 NA NA 0.062982 0.011784 NA 0.058 NA 5.4953846 1110 15 41145919 41145919 C T exonic SPINT1 NA synonymous SNV SPINT1:NM_001032367:exon4:c.C753T:p.L251L,SPINT1:NM_003710:exon5:c.C753T:p.L251L,SPINT1:NM_181642:exon5:c.C753T:p.L251L exonic ENSG00000166145 NA synonymous SNV ENSG00000166145:ENST00000564375:exon2:c.C129T:p.L43L,ENSG00000166145:ENST00000431806:exon4:c.C753T:p.L251L,ENSG00000166145:ENST00000568580:exon4:c.C633T:p.L211L,ENSG00000166145:ENST00000344051:exon5:c.C753T:p.L251L,ENSG00000166145:ENST00000562057:exon5:c.C753T:p.L251L,ENSG00000166145:ENST00000563656:exon5:c.C753T:p.L251L NA NA 15q15.1 NA NA NA NA rs17658212 0.03 0.03 0.028 0.0219649 0.0666 NA 0.0447 0.0038 0.0072 0.06 NA 0.06 0.0041 0.0418 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 0.296501 NA NA 0.063256 0.011575 NA 0.014 NA 5.4950106 1111 1 247921412 247921412 G C exonic OR1C1 NA synonymous SNV OR1C1:NM_012353:exon1:c.C297G:p.T99T exonic ENSG00000221888 NA synonymous SNV ENSG00000221888:ENST00000408896:exon1:c.C297G:p.T99T NA NA 1q44 NA NA NA NA rs41304163 0.04 0.04 0.025 0.0309505 0.0626 0.001 0.0533 0.0197 0.0286 0.06 0.0017 0.07 0.02 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 -1.287272 NA NA 0.061505 0.023286 NA 0.051 NA 5.4948616 1111 1 232942251 232942251 A G exonic MAP10 NA synonymous SNV MAP10:NM_019090:exon1:c.A1482G:p.L494L exonic ENSG00000212916 NA synonymous SNV ENSG00000212916:ENST00000418460:exon1:c.A1482G:p.L494L NA NA 1q42.2 NA NA NA NA rs12048236 0.11 0.11 0.1 0.133786 0.0517 0.1379 0.0836 0.2481 0.0951 0.05 0.12 0.08 0.2 0.0752 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071452 NA NA 0.045279 0.219544 ID=COSM146822;OCCURENCE=1(stomach) 0.101 NA 5.4944876 1111 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 1111 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 1111 3 128525253 128525253 C T exonic RAB7A NA synonymous SNV RAB7A:NM_004637:exon4:c.C219T:p.L73L exonic ENSG00000075785 NA synonymous SNV ENSG00000075785:ENST00000464496:exon3:c.C219T:p.L73L,ENSG00000075785:ENST00000490093:exon3:c.C219T:p.L73L,ENSG00000075785:ENST00000265062:exon4:c.C219T:p.L73L,ENSG00000075785:ENST00000482525:exon4:c.C219T:p.L73L NA NA 3q21.3 NA NA NA NA rs4548 0.03 0.03 0.029 0.019369 0.0676 NA 0.0331 0.0008 0.0051 0.07 NA 0.03 NA 0.0434 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 0.223794 NA NA 0.061628 0.012256 NA 0.022 NA 5.4940386 1111 4 154506081 154506081 G A exonic KIAA0922 NA synonymous SNV KIAA0922:NM_001131007:exon12:c.G1155A:p.Q385Q,KIAA0922:NM_015196:exon12:c.G1152A:p.Q384Q exonic ENSG00000121210 NA synonymous SNV ENSG00000121210:ENST00000240487:exon8:c.G738A:p.Q246Q,ENSG00000121210:ENST00000409663:exon12:c.G1152A:p.Q384Q,ENSG00000121210:ENST00000409959:exon12:c.G1155A:p.Q385Q,ENSG00000121210:ENST00000440693:exon12:c.G1155A:p.Q385Q NA NA 4q31.3 NA NA NA NA rs11931730 0.03 0.03 0.02 0.0197684 0.0636 0.001 0.0418 NA 0.0051 0.06 NA 0.05 NA 0.0464 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 0.388872 NA NA 0.062907 0.014299 NA 0.022 NA 5.4937596 1111 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 1111 2 224463164 224463164 G A exonic SCG2 NA synonymous SNV SCG2:NM_003469:exon2:c.C837T:p.N279N exonic ENSG00000171951 NA synonymous SNV ENSG00000171951:ENST00000305409:exon2:c.C837T:p.N279N NA NA 2q36.1 NA NA NA NA rs16864975 0.03 0.03 0.026 0.0211661 0.0577 NA 0.0432 NA 0.0184 0.06 NA 0.03 0.002 0.0472 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 -2.209197 NA NA 0.068023 0.009986 NA 0.007 NA 5.4937436 1111 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 1111 7 154429560 154429560 C T exonic DPP6 NA synonymous SNV DPP6:NM_001039350:exon6:c.C465T:p.Y155Y,DPP6:NM_001936:exon6:c.C471T:p.Y157Y,DPP6:NM_130797:exon6:c.C657T:p.Y219Y exonic ENSG00000130226 NA synonymous SNV ENSG00000130226:ENST00000332007:exon6:c.C471T:p.Y157Y,ENSG00000130226:ENST00000377770:exon6:c.C657T:p.Y219Y,ENSG00000130226:ENST00000404039:exon6:c.C465T:p.Y155Y Score=545;Name=lod=219 NA 7q36.2 Score=821;Name=V$GRE_C NA NA NA rs11243339 0.72 0.72 0.715 0.697085 0.7237 0.8919 0.6354 0.5113 0.7638 0.72 0.91 0.66 0.54 0.7393 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 0.946726 NA NA 0.710012 0.527657 ID=COSM1449517,COSM1449516,COSM1449515;OCCURENCE=1(large_intestine) 0.667 NA 5.4936546 1111 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 1111 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=CTCF,GABP,Rad21 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 1111 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 1111 20 55910542 55910542 T G intronic SPO11 NA NA NA intronic ENSG00000054796 NA NA NA NA NA 20q13.31 NA Name=CTCF,CTCF_(SC-5916) Name=24 NA rs3764674 0.14 0.14 0.158 0.171526 0.166 0.0327 0.0893 0.2451 0.2791 0.16 0.03 0.1 0.25 0.1729 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.539681 NA NA 0.168256 0.241826 NA 0.268 NA 5.492844 1111 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 1111 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 1111 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 1111 3 19992432 19992432 G T exonic RAB5A NA synonymous SNV RAB5A:NM_004162:exon2:c.G42T:p.T14T exonic ENSG00000144566 NA synonymous SNV ENSG00000144566:ENST00000273047:exon2:c.G42T:p.T14T,ENSG00000144566:ENST00000412966:exon2:c.G42T:p.T14T,ENSG00000144566:ENST00000422242:exon2:c.G42T:p.T14T,ENSG00000144566:ENST00000443878:exon2:c.G42T:p.T14T,ENSG00000144566:ENST00000446547:exon2:c.G42T:p.T14T Score=674;Name=lod=734 NA 3p24.3 Score=936;Name=V$MSX1_01 NA NA NA rs6773437 0.6 0.6 0.585 0.615615 0.7316 0.3155 0.6153 0.736 0.6431 0.73 0.32 0.57 0.72 0.6856 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 1.180323 NA NA 0.757791 0.754426 NA 0.645 NA 5.4916756 1111 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$ZID_01 NA NA NA rs2246808 0.36 0.36 0.381 0.382588 0.3917 0.1964 0.3718 0.5855 0.2986 0.38 0.16 0.38 0.55 0.3771 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.962464 NA NA 0.406279 0.534952 NA 0.326 NA 5.4915876 1111 1 221912808 221912808 T C exonic DUSP10 NA synonymous SNV DUSP10:NM_007207:exon2:c.A279G:p.Q93Q exonic ENSG00000143507 NA synonymous SNV ENSG00000143507:ENST00000366899:exon2:c.A279G:p.Q93Q Score=716;Name=lod=1087 NA 1q41 NA NA NA NA rs1136448 0.33 0.33 0.287 0.343251 0.3777 0.4484 0.4179 0.0961 0.4806 0.37 0.43 0.42 0.11 0.3899 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.086877 NA NA 0.407674 0.144803 NA 0.29 NA 5.4913926 1111 1 161928327 161928327 A G exonic ATF6 NA synonymous SNV ATF6:NM_007348:exon16:c.A1896G:p.S632S exonic ENSG00000118217 NA synonymous SNV ENSG00000118217:ENST00000367942:exon16:c.A1896G:p.S632S NA NA 1q23.3 NA Name=STAT3 Name=38 NA rs9482 0.6 0.6 0.573 0.558706 0.7763 0.506 0.4928 0.4183 0.6258 0.79 0.51 0.56 0.44 0.654 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.138318 NA NA 0.745116 0.462778 ID=COSM1335717;OCCURENCE=1(large_intestine) 0.63 NA 5.4912506 1111 1 1916890 1916890 C T exonic KIAA1751 NA synonymous SNV KIAA1751:NM_001080484:exon6:c.G435A:p.L145L intergenic ENSG00000142609,ENSG00000142609 dist=18925;dist=2511 NA NA Score=272;Name=lod=17 NA 1p36.33 Score=857;Name=V$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 1111 17 76219591 76219591 G A exonic BIRC5 NA nonsynonymous SNV BIRC5:NM_001168:exon4:c.G385A:p.E129K,BIRC5:NM_001012271:exon5:c.G454A:p.E152K exonic ENSG00000089685,ENSG00000268310 NA nonsynonymous SNV ENSG00000089685:ENST00000350051:exon4:c.G385A:p.E129K,ENSG00000089685:ENST00000301633:exon5:c.G454A:p.E152K,ENSG00000268310:ENST00000600484:exon5:c.C689T:p.S230F NA NA 17q25.3 NA Name=GATA-2 NA NA rs2071214 0.92 0.92 0.908 0.929113 0.9533 0.7728 0.9395 0.9985 0.9642 0.96 0.77 0.95 1 0.9359 1 1 T 0.0 B 0.001 B 0.070 N 1.000 P . . 3.82 T -0.986 T 0.000 T 0.057 -1.104 0.139 0.406 -0.529 -0.112 4.655 -1.103854 NA 1 0.953256 0.990468 NA 0.957 NA 5.4908774 1111 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=Egr-1,EBF,TBP,PAX5-N19,YY1_(C-20),SP1,SRF,Oct-2,BATF,PAX5-C20,NFKB,BCL3,IRF4_(M-17),TAF1,CTCF_(C-20),MEF2A,Pol2-4H8,BCL11A,EBF1_(C-8),Pbx3,Pol2,CHD2_(N-1250),TCF12,POU2F2 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 1111 11 76701606 76701606 G A exonic ACER3 NA synonymous SNV ACER3:NM_018367:exon6:c.G426A:p.P142P exonic ENSG00000078124 NA synonymous SNV ENSG00000078124:ENST00000533873:exon5:c.G315A:p.P105P,ENSG00000078124:ENST00000526597:exon6:c.G141A:p.P47P,ENSG00000078124:ENST00000532485:exon6:c.G426A:p.P142P,ENSG00000078124:ENST00000534206:exon6:c.G300A:p.P100P,ENSG00000078124:ENST00000538157:exon7:c.G300A:p.P100P Score=506;Name=lod=152 NA 11q13.5 Score=782;Name=V$CDP_01 NA NA NA rs3740767 0.56 0.56 0.545 0.532947 0.7366 0.6349 0.5072 0.1906 0.6994 0.75 0.67 0.5 0.2 0.6798 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.680496 NA NA 0.759786 0.286136 NA 0.551 NA 5.4904806 1111 17 1639458 1639458 A G exonic WDR81 NA synonymous SNV WDR81:NM_001163673:exon9:c.A1842G:p.T614T,WDR81:NM_001163809:exon9:c.A5451G:p.T1817T,WDR81:NM_001163811:exon9:c.A1770G:p.T590T,WDR81:NM_152348:exon10:c.A2298G:p.T766T exonic ENSG00000167716 NA synonymous SNV ENSG00000167716:ENST00000545662:exon7:c.A1344G:p.T448T,ENSG00000167716:ENST00000446363:exon8:c.A1368G:p.T456T,ENSG00000167716:ENST00000409644:exon9:c.A5451G:p.T1817T,ENSG00000167716:ENST00000419248:exon9:c.A1770G:p.T590T,ENSG00000167716:ENST00000437219:exon9:c.A1842G:p.T614T,ENSG00000167716:ENST00000309182:exon10:c.A2298G:p.T766T NA NA 17p13.3 NA Name=TAF1 NA NA rs11549259 0.72 0.72 0.706 0.717652 0.7177 0.8383 0.6772 0.6225 0.7505 0.72 0.85 0.68 0.59 0.7342 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.106743 NA NA 0.724471 0.633908 ID=COSM436115,COSM1479287,COSM436116;OCCURENCE=1(breast) 0.674 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118860.2;CLNDSDB=.;CLNDSDBID=. 5.4902956 1111 14 100847930 100847930 A G exonic WDR25 NA synonymous SNV WDR25:NM_001161476:exon2:c.A669G:p.P223P,WDR25:NM_024515:exon2:c.A669G:p.P223P exonic ENSG00000176473 NA synonymous SNV ENSG00000176473:ENST00000557710:exon1:c.A669G:p.P223P,ENSG00000176473:ENST00000335290:exon2:c.A669G:p.P223P,ENSG00000176473:ENST00000402312:exon2:c.A669G:p.P223P,ENSG00000176473:ENST00000554175:exon2:c.A669G:p.P223P,ENSG00000176473:ENST00000554998:exon2:c.A669G:p.P223P NA NA 14q32.2 Score=814;Name=V$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 1111 2 158443889 158443889 G A exonic ACVR1C NA synonymous SNV ACVR1C:NM_001111032:exon2:c.C114T:p.F38F,ACVR1C:NM_001111033:exon2:c.C114T:p.F38F,ACVR1C:NM_145259:exon2:c.C114T:p.F38F exonic ENSG00000123612 NA synonymous SNV ENSG00000123612:ENST00000243349:exon2:c.C114T:p.F38F,ENSG00000123612:ENST00000335450:exon2:c.C114T:p.F38F,ENSG00000123612:ENST00000348328:exon2:c.C114T:p.F38F Score=591;Name=lod=337 NA 2q24.1 NA NA NA NA rs4556933 0.44 0.44 0.454 0.440296 0.3936 0.3185 0.4323 0.6974 0.272 0.39 0.29 0.44 0.67 0.3879 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 1.253832 1.253832 NA 0.395465 0.658647 NA 0.486 NA 5.4897016 1111 10 47087731 47087731 C T exonic NPY4R NA synonymous SNV NPY4R:NM_005972:exon3:c.C948T:p.C316C exonic ENSG00000204174 NA synonymous SNV ENSG00000204174:ENST00000395716:exon2:c.C948T:p.C316C,ENSG00000204174:ENST00000374312:exon3:c.C948T:p.C316C Score=603;Name=lod=377 NA 10q11.22 Score=914;Name=V$AREB6_01 NA NA NA rs1048158 0.84 0.84 NA 0.826677 0.7177 0.9901 0.8184 0.798 0.8149 0.73 0.99 0.83 0.83 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 0.509471 NA NA 0.705116 0.780527 NA 0.746 NA 5.4896506 1111 19 52941171 52941171 T C exonic ZNF534 NA nonsynonymous SNV ZNF534:NM_001143938:exon4:c.T458C:p.F153S,ZNF534:NM_001143939:exon4:c.T497C:p.F166S exonic ENSG00000198633 NA nonsynonymous SNV ENSG00000198633:ENST00000332323:exon4:c.T497C:p.F166S,ENSG00000198633:ENST00000433050:exon4:c.T458C:p.F153S NA NA 19q13.41 NA NA NA NA rs1428180 0.85 0.85 0.826 0.828075 0.9583 0.6587 0.9035 0.8245 0.82 0.97 0.67 0.92 0.83 0.9162 0.97 0.25 T 0.0 B 0.001 B . . 1.000 P -2.755 N 3.44 T -0.977 T 0.000 T 0.023 -1.028 0.222 -1.48 -1.250 -0.479 3.455 -1.02801 NA 0.4 0.96971 0.844069 NA 0.877 NA 5.4891234 1111 9 94499618 94499618 G A intronic ROR2 NA NA NA intronic ENSG00000169071 NA NA NA NA NA 9q22.31 NA Name=NRSF,p300,GATA-2 Name=7 NA rs7855522 0.42 0.42 0.404 0.400559 0.5109 0.4613 0.4092 0.2617 0.4059 0.52 0.46 0.4 0.25 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 -0.910525 NA NA NA NA NA 0.355 NA 5.4891 1111 10 99150237 99150237 G A exonic RRP12 NA synonymous SNV RRP12:NM_001145114:exon4:c.C513T:p.P171P,RRP12:NM_015179:exon6:c.C696T:p.P232P exonic ENSG00000052749 NA synonymous SNV ENSG00000052749:ENST00000536831:exon2:c.C114T:p.P38P,ENSG00000052749:ENST00000414986:exon4:c.C513T:p.P171P,ENSG00000052749:ENST00000370992:exon6:c.C696T:p.P232P NA NA 10q24.1 NA NA NA NA rs41300219 0.04 0.04 0.036 0.0401358 0.0716 NA 0.0533 0.0598 0.0133 0.07 NA 0.04 0.05 0.0481 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 -0.488782 NA NA 0.058256 0.057649 NA 0.022 NA 5.4887106 1111 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 1111 8 18725428 18725428 A G exonic PSD3 NA synonymous SNV PSD3:NM_015310:exon4:c.T1390C:p.L464L exonic ENSG00000156011 NA synonymous SNV ENSG00000156011:ENST00000523619:exon3:c.T1195C:p.L399L,ENSG00000156011:ENST00000327040:exon4:c.T1390C:p.L464L,ENSG00000156011:ENST00000440756:exon4:c.T1390C:p.L464L NA NA 8p22 NA NA NA NA rs17127370 0.09 0.09 0.092 0.100439 0.0507 0.006 0.098 0.2269 0.0798 0.05 NA 0.09 0.26 0.0734 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.191142 NA NA 0.054591 0.196104 NA 0.101 NA 5.4879756 1111 20 61440971 61440971 G A exonic OGFR NA synonymous SNV OGFR:NM_007346:exon4:c.G354A:p.T118T exonic ENSG00000060491 NA synonymous SNV ENSG00000060491:ENST00000370461:exon2:c.G198A:p.T66T,ENSG00000060491:ENST00000450048:exon3:c.G177A:p.T59T,ENSG00000060491:ENST00000290291:exon4:c.G354A:p.T118T,ENSG00000060491:ENST00000370468:exon4:c.G354A:p.T118T NA NA 20q13.33 NA NA NA NA rs1048792 0.05 0.05 0.04 0.0601038 0.0457 0.0476 0.0576 0.0166 0.1483 0.05 0.07 0.06 0.02 0.0751 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 0.242853 NA NA 0.058037 0.017476 ID=COSM444182;OCCURENCE=1(breast) 0.058 NA 5.4878296 1111 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 1111 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=Pol2,NFKB,Pol2(b) 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 1111 X 12906030 12906030 G A exonic TLR7 NA synonymous SNV TLR7:NM_016562:exon3:c.G2403A:p.T801T exonic ENSG00000196664 NA synonymous SNV ENSG00000196664:ENST00000380659:exon3:c.G2403A:p.T801T NA NA Xp22.2 NA NA NA NA rs864058 0.1 0.1 0.11129 NA NA NA NA NA NA 0.08 0.01 0.09 0.23 0.0857 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409363 NA NA 0.094679 0.22764 ID=COSM1465504;OCCURENCE=1(large_intestine) 0.08 NA 5.4862876 1111 5 13913885 13913885 A G exonic DNAH5 NA synonymous SNV DNAH5:NM_001369:exon11:c.T1503C:p.I501I exonic ENSG00000039139 NA synonymous SNV ENSG00000039139:ENST00000265104:exon11:c.T1503C:p.I501I Score=496;Name=lod=138 NA 5p15.2 NA NA NA NA rs3213936 0.57 0.57 0.573 0.528754 0.3797 0.8492 0.4496 0.5666 0.3569 0.4 0.86 0.48 0.55 0.422 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 0.901841 NA NA 0.378837 0.528824 NA 0.493 NA 5.4861296 1111 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 1111 12 21331625 21331625 C T exonic SLCO1B1 NA synonymous SNV SLCO1B1:NM_006446:exon6:c.C597T:p.F199F exonic ENSG00000134538 NA synonymous SNV ENSG00000134538:ENST00000256958:exon6:c.C597T:p.F199F Score=407;Name=lod=60 NA 12p12.1 NA NA NA NA rs2291075 0.45 0.45 0.453 0.415535 0.3966 0.5109 0.3314 0.5598 0.2014 0.4 0.48 0.35 0.56 0.3851 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.76462 NA NA 0.399767 0.544939 NA 0.391 NA 5.4851996 1111 14 35871960 35871960 G A intronic NFKBIA NA NA NA intronic ENSG00000100906 NA NA NA NA NA 14q13.2 NA Name=Pol2(b),Pol2-4H8,NFKB,Pol2 Name=55 NA rs2233419 0.12 0.12 0.126 0.110423 0.169 0.0327 0.1455 0.0832 0.1421 0.18 0.05 0.18 0.09 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 -0.565945 NA NA 0.189535 0.11212 NA 0.188 NA 5.485165 1112 5 52347369 52347369 C T exonic ITGA2 NA synonymous SNV ITGA2:NM_002203:exon7:c.C759T:p.F253F exonic ENSG00000164171 NA synonymous SNV ENSG00000164171:ENST00000296585:exon7:c.C759T:p.F253F,ENSG00000164171:ENST00000509814:exon7:c.C759T:p.F253F,ENSG00000164171:ENST00000509960:exon7:c.C759T:p.F253F,ENSG00000164171:ENST00000510722:exon7:c.C759T:p.F253F Score=494;Name=lod=136 NA 5q11.2 NA NA NA NA rs1126643 0.36 0.36 0.344 0.33766 0.4026 0.2827 0.4424 0.2806 0.3303 0.41 0.33 0.45 0.27 0.3822 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.208348 NA NA 0.396977 0.304812 NA 0.428 NA 5.4848896 1112 5 54528393 54528393 G C intronic CCNO NA NA NA intronic ENSG00000152669 NA NA NA NA NA 5q11.2 NA Name=Pol2(phosphoS2),STAT3,CtBP2,ZNF263 Name=88 NA rs334892 0.17 0.17 0.152 0.177716 0.1918 0.1687 0.1729 0.1876 0.1626 0.2 0.14 0.17 0.18 0.1772 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.787147 1.787147 NA 0.146217 0.185766 NA 0.138 NA 5.484783 1112 1 226923505 226923505 G T exonic ITPKB NA nonsynonymous SNV ITPKB:NM_002221:exon2:c.C1655A:p.P552Q exonic ENSG00000143772 NA nonsynonymous SNV ENSG00000143772:ENST00000272117:exon1:c.C1655A:p.P552Q,ENSG00000143772:ENST00000366784:exon2:c.C1655A:p.P552Q,ENSG00000143772:ENST00000429204:exon2:c.C1655A:p.P552Q NA NA 1q42.12 NA NA NA NA rs708776 0.97 0.97 0.978 0.979832 0.9423 1 0.9553 0.9962 0.9928 0.95 1 0.95 0.99 0.9646 1 0.61 T 0.0 B 0.0 B 0.484 N 1.000 P -0.345 N 1.98 T -1.012 T 0.000 T 0.024 1.017 9.155 -4.95 -0.777 -0.899 2.079 1.017178 NA 0.76 0.942093 0.991375 NA 0.942 NA 5.4843404 1112 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 1112 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 1112 17 56659018 56659018 C T exonic TEX14 NA nonsynonymous SNV TEX14:NM_001201457:exon20:c.G3263A:p.G1088D,TEX14:NM_198393:exon20:c.G3245A:p.G1082D exonic ENSG00000121101 NA nonsynonymous SNV ENSG00000121101:ENST00000240361:exon20:c.G3263A:p.G1088D,ENSG00000121101:ENST00000389934:exon20:c.G3245A:p.G1082D NA NA 17q22 NA NA NA NA rs6503870 0.6 0.6 0.61 0.607428 0.6332 0.4812 0.4337 0.7489 0.6431 0.63 0.48 0.46 0.78 0.5923 0.78 0.97 T 0.0 B 0.0 B 0.799 N 1.000 P 0 N -1.17 T -0.936 T 0.000 T 0.05 -1.049 0.196 -1.65 -0.208 0.439 1.232 -1.049129 NA 0 0.623837 0.709714 NA 0.638 NA 5.4839964 1112 2 12864766 12864766 C T intronic TRIB2 NA NA NA exonic ENSG00000071575 NA nonsynonymous SNV ENSG00000071575:ENST00000405331:exon3:c.C575T:p.P192L NA NA 2p24.3 NA NA NA NA rs2288192 0.3 0.3 0.259 0.296326 0.2177 0.63 0.2651 0.0605 0.3742 0.24 0.61 0.23 0.07 0.2602 0.61 0.79 T . . . . . . 1.000 P . . 3.31 T -0.999 T 0.000 T 0.093 0.539 6.915 -1.18 -0.282 -0.082 3.556 0.538504 NA 0 0.204922 0.08847 NA 0.167 NA 5.4838447 1112 20 36769792 36769792 G A intronic TGM2 NA NA NA intronic ENSG00000198959 NA NA NA NA NA 20q11.23 NA Name=Egr-1 Name=10 NA rs2076389 0.19 0.19 0.149 0.196086 0.1392 0.2728 0.1225 0.1884 0.2382 0.15 0.31 0.12 0.16 0.2451 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.480814 NA NA 0.131928 0.151253 NA 0.196 NA 5.483772 1112 9 18681821 18681821 A G exonic ADAMTSL1 NA synonymous SNV ADAMTSL1:NM_001040272:exon12:c.A1353G:p.T451T,ADAMTSL1:NM_052866:exon12:c.A1353G:p.T451T exonic ENSG00000178031 NA synonymous SNV ENSG00000178031:ENST00000276935:exon12:c.A1353G:p.T451T,ENSG00000178031:ENST00000327883:exon12:c.A1353G:p.T451T,ENSG00000178031:ENST00000380548:exon12:c.A1353G:p.T451T NA NA 9p22.1 Score=872;Name=V$ER_Q6 NA NA NA rs13293151 0.3 0.3 0.285 0.277157 0.4185 0.2748 0.3069 0.1248 0.319 0.42 0.27 0.33 0.12 0.3574 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.042391 NA NA 0.407442 0.167272 NA 0.188 NA 5.4833246 1112 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 1112 19 47124714 47124714 T G exonic PTGIR NA synonymous SNV PTGIR:NM_000960:exon3:c.A984C:p.S328S exonic ENSG00000160013 NA synonymous SNV ENSG00000160013:ENST00000597185:exon2:c.A171C:p.S57S,ENSG00000160013:ENST00000291294:exon3:c.A984C:p.S328S,ENSG00000160013:ENST00000594275:exon3:c.A255C:p.S85S,ENSG00000160013:ENST00000598865:exon3:c.A348C:p.S116S NA NA 19q13.32 NA NA Name=3 NA rs2229129 0.39 0.39 0.378 0.416933 0.3867 0.3819 0.3833 0.4387 0.4785 0.39 0.37 0.37 0.46 0.4041 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122106 NA NA 0.392791 0.432788 ID=COSM439839;OCCURENCE=1(breast) 0.442 NA 5.4830756 1112 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 1112 19 44660967 44660967 A G exonic ZNF234 NA synonymous SNV ZNF234:NM_001144824:exon6:c.A798G:p.G266G,ZNF234:NM_006630:exon6:c.A798G:p.G266G exonic ENSG00000263002 NA synonymous SNV ENSG00000263002:ENST00000426739:exon6:c.A798G:p.G266G,ENSG00000263002:ENST00000592437:exon6:c.A798G:p.G266G NA NA 19q13.31 NA Name=SETDB1,KAP1 NA NA rs12609635 0.54 0.54 0.532 0.569289 0.3668 0.4931 0.4726 0.9418 0.4213 0.37 0.49 0.5 0.9 0.4493 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 0.556727 NA NA 0.367674 0.840218 NA 0.609 NA 5.4828926 1112 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 1112 17 76423097 76423097 G A exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon78:c.C12681T:p.Y4227Y exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon78:c.C12750T:p.Y4250Y,ENSG00000187775:ENST00000585328:exon78:c.C12666T:p.Y4222Y Score=443;Name=lod=84 NA 17q25.3 Score=925;Name=V$HOXA3_01 NA NA NA rs2271613 0.7 0.7 0.661 0.684505 0.7167 0.9425 0.755 0.3759 0.7526 0.72 0.93 0.75 0.38 0.7446 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.976012 NA NA 0.722558 0.427145 NA 0.565 NA 5.4828086 1112 10 104596924 104596924 C A exonic CYP17A1 NA synonymous SNV CYP17A1:NM_000102:exon1:c.G195T:p.S65S exonic ENSG00000148795 NA synonymous SNV ENSG00000148795:ENST00000369887:exon1:c.G195T:p.S65S NA NA 10q24.32 Score=727;Name=V$PAX4_04 NA NA NA rs6163 0.42 0.42 0.413 0.410343 0.3926 0.5873 0.4179 0.3268 0.3538 0.4 0.56 0.39 0.33 0.3974 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.191107 NA NA 0.394419 0.361552 NA 0.275 NA 5.4822476 1112 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 1112 4 7716932 7716932 T C exonic SORCS2 NA nonsynonymous SNV SORCS2:NM_020777:exon17:c.T2146C:p.S716P exonic ENSG00000184985 NA nonsynonymous SNV ENSG00000184985:ENST00000329016:exon17:c.T1630C:p.S544P,ENSG00000184985:ENST00000507866:exon17:c.T2146C:p.S716P NA NA 4p16.1 NA NA NA NA rs6816604 0.94 0.94 0.93 0.938898 0.9583 0.999 0.9611 0.8374 0.9785 0.96 1 0.97 0.82 0.9512 1 0.36 T 0.0 B 0.0 B 0.339 N 1.000 P -0.06 N 2.46 T -1.053 T 0.000 T 0.042 -0.63 1.211 -2.11 -0.582 0.387 0.741 -0.629659 NA 0.25 0.941637 0.860338 NA 0.891 NA 5.4821964 1112 16 81253759 81253759 A G exonic PKD1L2 NA nonsynonymous SNV PKD1L2:NM_001076780:exon1:c.T217C:p.W73R exonic ENSG00000166473,ENSG00000269323 NA nonsynonymous SNV ENSG00000166473:ENST00000337114:exon1:c.T217C:p.W73R,ENSG00000269323:ENST00000599697:exon1:c.T217C:p.W73R NA NA 16q23.2 NA NA NA NA rs9924371 0.57 0.57 0.553 0.534545 0.6511 0.4405 0.562 0.5983 0.4059 0.65 0.41 0.62 0.61 0.5679 0.65 0.54 T 0.0 B 0.0 B 0.200 N 0.998 P . . 2.33 T -0.983 T 0.000 T 0.347 -2.431 0.003 -0.109 -0.436 0.397 0.212 -2.430925 NA 0.14 0.632468 0.641246 NA 0.58 NA 5.4818654 1112 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 1112 19 44570393 44570393 C A exonic ZNF223 NA nonsynonymous SNV ZNF223:NM_013361:exon5:c.C412A:p.L138I exonic ENSG00000178386,ENSG00000267022 NA nonsynonymous SNV ENSG00000178386:ENST00000591850:exon3:c.C304A:p.L102I,ENSG00000178386:ENST00000434772:exon5:c.C412A:p.L138I,ENSG00000267022:ENST00000591793:exon7:c.C742A:p.L248I NA NA 19q13.31 NA NA NA NA rs6509138 0.42 0.42 0.412 0.401558 0.659 0.2996 0.3516 0.1483 0.6196 0.67 0.33 0.41 0.14 0.5465 0.67 0.19 T 0.182 B 0.04 B . . 1.000 P 0.695 N 3.56 T -1.058 T 0.000 T 0.06 0.64 7.438 -0.505 0.221 . 2.044 0.640147 NA 0.18 0.646279 0.228325 NA 0.478 NA 5.4815544 1112 X 48751471 48751471 A G exonic TIMM17B NA synonymous SNV TIMM17B:NM_005834:exon5:c.T228C:p.I76I,TIMM17B:NM_001167947:exon6:c.T378C:p.I126I exonic ENSG00000126768 NA synonymous SNV ENSG00000126768:ENST00000376582:exon5:c.T228C:p.I76I,ENSG00000126768:ENST00000396779:exon6:c.T378C:p.I126I Score=544;Name=lod=216 NA Xp11.23 NA NA NA NA rs1128363 0.67 0.67 0.69396 NA NA NA NA NA NA 0.51 0.71 0.58 0.94 0.6497 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 1.346577 1.346577 NA 0.535672 0.916536 NA 0.478 NA 5.4812946 1112 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 1112 4 71201388 71201388 C T exonic CABS1 NA nonsynonymous SNV CABS1:NM_033122:exon1:c.C632T:p.T211I exonic ENSG00000145309 NA nonsynonymous SNV ENSG00000145309:ENST00000273936:exon1:c.C632T:p.T211I NA NA 4q13.3 Score=808;Name=V$ER_Q6 NA NA NA rs1351419 0.92 0.92 0.915 0.923522 0.9553 1 0.9611 0.7799 0.9796 0.95 1 0.95 0.77 0.9463 1 0.67 T 0.0 B 0.0 B 0.266 N 1.000 P -0.345 N 2.01 T -1.005 T 0.000 T 0.042 -1.989 0.007 1.19 0.024 -0.279 7.945 -1.989316 NA 0.56 0.950803 0.812982 NA 0.928 NA 5.4809304 1112 17 4937575 4937575 T C exonic SLC52A1 NA nonsynonymous SNV SLC52A1:NM_001104577:exon3:c.A209G:p.Q70R,SLC52A1:NM_017986:exon3:c.A209G:p.Q70R exonic ENSG00000132517 NA nonsynonymous SNV ENSG00000132517:ENST00000254853:exon3:c.A209G:p.Q70R,ENSG00000132517:ENST00000424747:exon3:c.A209G:p.Q70R,ENSG00000132517:ENST00000512825:exon3:c.A209G:p.Q70R Score=541;Name=lod=211 NA 17p13.2 NA NA NA NA rs346822 0.93 0.93 0.921 0.923522 0.9602 0.8204 0.9597 0.9675 0.907 0.96 0.82 0.96 0.97 0.9401 0.97 1 T 0.0 B 0.0 B 0.000 N 1.000 P -1.935 N -0.43 T -0.973 T 0.000 T 0.073 -2.497 0.003 1.29 0.087 0.473 6.407 -2.496691 NA 1 0.952209 0.960508 NA 0.957 NA 5.4808244 1112 9 117063396 117063396 G A exonic COL27A1 NA synonymous SNV COL27A1:NM_032888:exon52:c.G4746A:p.S1582S exonic ENSG00000196739 NA synonymous SNV ENSG00000196739:ENST00000356083:exon52:c.G4746A:p.S1582S NA NA 9q32 NA NA NA NA rs73656040 0.04 0.04 0.047 0.0363419 0.0616 0.003 0.0432 0.0552 0.0143 0.07 0.0035 0.03 0.05 0.0566 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.884856 NA NA 0.067791 0.047435 NA 0.029 NA 5.4806756 1112 14 104643421 104643421 T C exonic KIF26A NA synonymous SNV KIF26A:NM_015656:exon12:c.T4296C:p.L1432L exonic ENSG00000066735 NA synonymous SNV ENSG00000066735:ENST00000315264:exon11:c.T3879C:p.L1293L,ENSG00000066735:ENST00000423312:exon12:c.T4296C:p.L1432L NA NA 14q32.33 Score=800;Name=V$MYCMAX_03 NA NA NA rs2487302 0.43 0.43 0.432 0.464257 0.3767 0.4018 0.3559 0.5915 0.5235 0.4 0.36 0.39 0.59 0.4325 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.92638 NA NA 0.37711 0.530888 NA 0.587 NA 5.4803566 1112 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 1112 22 22024150 22024150 C T intronic PPIL2 NA NA NA intronic ENSG00000100023 NA NA NA NA NA 22q11.21 NA Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) Name=8 NA rs2247115 0.24 0.24 0.217 0.250799 0.2753 0.2966 0.2666 0.1445 0.3108 0.27 0.27 0.27 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 -0.21021 NA NA 0.244556 0.185587 NA 0.341 NA 5.480144 1112 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 1112 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 1112 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 1112 19 57723007 57723007 G C exonic ZNF264 NA nonsynonymous SNV ZNF264:NM_003417:exon4:c.G542C:p.R181T exonic ENSG00000083844 NA nonsynonymous SNV ENSG00000083844:ENST00000263095:exon4:c.G542C:p.R181T,ENSG00000083844:ENST00000536056:exon5:c.G542C:p.R181T NA NA 19q13.43 NA NA NA NA rs2074858 0.6 0.6 0.597 0.621605 0.6481 0.3125 0.6369 0.8427 0.6033 0.65 0.3 0.64 0.84 0.6017 0.84 0.06 T 0.0 B 0.0 B . . 1.000 P 1.43 L 2.06 T -1.074 T 0.000 T 0.038 -0.93 0.379 0.985 0.034 -0.779 4.716 -0.929639 NA 0.41 0.604302 0.816841 NA 0.674 NA 5.4792314 1112 19 57723013 57723013 G A exonic ZNF264 NA nonsynonymous SNV ZNF264:NM_003417:exon4:c.G548A:p.R183H exonic ENSG00000083844 NA nonsynonymous SNV ENSG00000083844:ENST00000263095:exon4:c.G548A:p.R183H,ENSG00000083844:ENST00000536056:exon5:c.G548A:p.R183H NA NA 19q13.43 NA NA NA NA rs917340 0.6 0.6 0.601 0.621206 0.6481 0.3125 0.6369 0.8427 0.6012 0.65 0.3 0.64 0.84 0.6017 0.84 0.29 T 0.0 B 0.0 B . . 1.000 P -1.435 N 2.11 T -1.049 T 0.000 T 0.041 -1.921 0.008 -0.786 -0.873 -0.941 2.551 -1.921084 NA 0.86 0.604419 0.816841 NA 0.674 NA 5.4791144 1112 6 79708000 79708000 A C exonic PHIP NA nonsynonymous SNV PHIP:NM_017934:exon18:c.T1988G:p.V663G exonic ENSG00000146247 NA nonsynonymous SNV ENSG00000146247:ENST00000275034:exon18:c.T1988G:p.V663G Score=606;Name=lod=386 NA 6q14.1 NA NA NA NA rs7747479 0.94 0.94 0.944 0.943091 0.9563 0.999 0.8948 0.8986 0.9663 0.96 1 0.91 0.88 0.9464 1 . . 0.0 B 0.0 B 0.076 N 0.989 P -1.265 N 1.51 T -0.920 T 0.007 T 0.13 -1.195 0.075 1.88 -0.293 0.221 9.454 -1.195054 NA 0.93 0.95186 0.89537 NA 0.935 NA 5.4787734 1112 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 1112 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 1112 9 4834299 4834299 T G intronic RCL1 NA NA NA intronic ENSG00000120158 NA NA NA NA NA 9p24.1 NA Name=c-Fos,GATA-2,eGFP-JunB,c-Jun Name=81 NA rs2296769 0.25 0.25 NA 0.257388 0.2485 0.1677 0.3343 0.2126 0.365 0.26 0.21 0.3 0.26 0.2737 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39469 NA NA NA NA NA 0.341 NA 5.4778 1112 15 86806029 86806029 C T exonic AGBL1 NA synonymous SNV AGBL1:NM_152336:exon9:c.C852T:p.D284D exonic ENSG00000166748 NA synonymous SNV ENSG00000166748:ENST00000389298:exon2:c.C45T:p.D15D,ENSG00000166748:ENST00000421325:exon8:c.C852T:p.D284D,ENSG00000166748:ENST00000441037:exon9:c.C852T:p.D284D NA NA 15q25.3 Score=779;Name=V$HTF_01 NA NA NA rs1566088 0.56 0.56 0.571 NA NA NA NA NA NA 0.56 0.22 0.57 0.92 0.5909 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 -0.417491 NA NA 0.598748 0.889173 NA 0.659 NA 5.4770186 1112 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 1112 6 46659663 46659663 C T exonic TDRD6 NA synonymous SNV TDRD6:NM_001010870:exon1:c.C3798T:p.P1266P,TDRD6:NM_001168359:exon1:c.C3798T:p.P1266P exonic ENSG00000180113 NA synonymous SNV ENSG00000180113:ENST00000316081:exon1:c.C3798T:p.P1266P,ENSG00000180113:ENST00000544460:exon1:c.C3798T:p.P1266P NA NA 6p12.3 NA NA NA NA rs12199679 0.03 0.03 0.02 0.0271565 0.0606 0.002 0.0202 0.0045 0.0542 0.07 0.0017 0.02 0.01 0.0527 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 -2.405904 NA NA 0.076449 0.011152 NA 0.022 NA 5.4769176 1112 14 51057727 51057727 G A exonic ATL1 NA synonymous SNV ATL1:NM_015915:exon3:c.G351A:p.E117E,ATL1:NM_181598:exon3:c.G351A:p.E117E,ATL1:NM_001127713:exon4:c.G351A:p.E117E exonic ENSG00000198513 NA synonymous SNV ENSG00000198513:ENST00000354525:exon3:c.G351A:p.E117E,ENSG00000198513:ENST00000357032:exon3:c.G351A:p.E117E,ENSG00000198513:ENST00000358385:exon3:c.G351A:p.E117E,ENSG00000198513:ENST00000557735:exon3:c.G102A:p.E34E,ENSG00000198513:ENST00000441560:exon4:c.G351A:p.E117E Score=607;Name=lod=389 NA 14q22.1 NA NA NA NA rs1060197 0.81 0.81 0.798 0.821486 0.6978 0.7887 0.8069 0.9622 0.8027 0.72 0.81 0.81 0.93 0.7633 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 1.008293 NA NA 0.728837 0.926691 NA 0.884 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Spastic_paraplegia_3|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000020720.1|RCV000116420.2;CLNDSDB=GeneReviews:MedGen:OMIM|.;CLNDSDBID=NBK45978:CN074283:182600|. 5.4767296 1112 17 1637302 1637302 A G exonic WDR81 NA synonymous SNV WDR81:NM_001163673:exon7:c.A1362G:p.L454L,WDR81:NM_001163809:exon7:c.A4971G:p.L1657L,WDR81:NM_001163811:exon7:c.A1290G:p.L430L,WDR81:NM_152348:exon8:c.A1818G:p.L606L exonic ENSG00000167716 NA synonymous SNV ENSG00000167716:ENST00000545662:exon5:c.A864G:p.L288L,ENSG00000167716:ENST00000446363:exon6:c.A888G:p.L296L,ENSG00000167716:ENST00000409644:exon7:c.A4971G:p.L1657L,ENSG00000167716:ENST00000419248:exon7:c.A1290G:p.L430L,ENSG00000167716:ENST00000437219:exon7:c.A1362G:p.L454L,ENSG00000167716:ENST00000309182:exon8:c.A1818G:p.L606L Score=346;Name=lod=34 NA 17p13.3 NA NA NA NA rs3809872 0.76 0.76 0.762 0.76238 0.7137 0.9157 0.7089 0.7148 0.7566 0.72 0.91 0.71 0.69 0.7526 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 -0.153421 NA NA 0.724058 0.720835 NA 0.717 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118857.2;CLNDSDB=.;CLNDSDBID=. 5.4763086 1112 16 2983516 2983516 C T exonic FLYWCH1 NA synonymous SNV FLYWCH1:NM_020912:exon5:c.C1179T:p.V393V,FLYWCH1:NM_032296:exon5:c.C1179T:p.V393V exonic ENSG00000059122 NA synonymous SNV ENSG00000059122:ENST00000253928:exon5:c.C1182T:p.V394V,ENSG00000059122:ENST00000399667:exon5:c.C1182T:p.V394V,ENSG00000059122:ENST00000416288:exon5:c.C1179T:p.V393V NA NA 16p13.3 NA NA NA NA rs61747747 0.04 0.04 0.044 0.038139 0.0676 0.001 0.0677 0.0325 0.0327 0.06 0.0017 0.1 0.02 0.058 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 -0.044007 NA NA 0.064957 0.034025 NA 0.022 NA 5.4761096 1112 8 110425594 110425594 G A intronic PKHD1L1 NA NA NA intronic ENSG00000205038 NA NA NA NA NA 8q23.1 Score=927;Name=V$SOX5_01 Name=CEBPB NA NA rs4604408 0.55 0.55 0.565 0.605831 0.5239 0.3968 0.6571 0.7209 0.7137 0.51 0.42 0.63 0.71 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 0.384508 NA NA NA NA NA 0.652 NA 5.4761 1112 12 123664514 123664514 G A exonic MPHOSPH9 NA synonymous SNV MPHOSPH9:NM_022782:exon11:c.C1857T:p.N619N exonic ENSG00000051825 NA synonymous SNV ENSG00000051825:ENST00000302373:exon10:c.C1791T:p.N597N,ENSG00000051825:ENST00000302349:exon11:c.C1857T:p.N619N,ENSG00000051825:ENST00000392425:exon11:c.C1857T:p.N619N,ENSG00000051825:ENST00000541076:exon13:c.C2223T:p.N741N,ENSG00000051825:ENST00000606320:exon15:c.C2313T:p.N771N Score=540;Name=lod=209 NA 12q24.31 NA NA NA NA rs1727301 0.39 0.39 0.345 0.393371 0.3956 0.6855 0.4179 0.0234 0.5726 0.39 0.68 0.43 0.03 0.4201 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.818045 NA NA 0.375466 0.080337 NA 0.319 NA 5.4755006 1112 22 45683246 45683246 C T exonic UPK3A NA synonymous SNV UPK3A:NM_006953:exon3:c.C402T:p.V134V exonic ENSG00000100373 NA synonymous SNV ENSG00000100373:ENST00000216211:exon3:c.C402T:p.V134V Score=383;Name=lod=48 NA 22q13.31 NA Name=RXRA NA NA rs2673088 0.58 0.58 0.53 0.548123 0.7316 0.5417 0.768 0.233 0.636 0.73 0.57 0.73 0.24 0.6971 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 0.727746 NA NA 0.762558 0.317749 NA 0.688 NA 5.4754086 1112 21 27945141 27945141 G A intronic CYYR1 NA NA NA intronic ENSG00000166265 NA NA NA NA NA 21q21.3 NA Name=Pol2-4H8,SUZ12 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 1113 7 100731748 100731748 T G exonic TRIM56 NA synonymous SNV TRIM56:NM_030961:exon3:c.T1155G:p.G385G exonic ENSG00000169871 NA synonymous SNV ENSG00000169871:ENST00000306085:exon3:c.T1155G:p.G385G NA NA 7q22.1 NA NA NA NA rs61730718 0.07 0.07 0.069 0.0692891 0.0567 0.001 0.0605 0.177 0.0133 0.05 0.0017 0.07 0.18 0.06 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.763295 NA NA 0.075349 0.138211 NA 0.029 NA 5.4746176 1113 9 2644954 2644954 C T intronic VLDLR NA NA NA intronic ENSG00000147852 NA NA NA Score=485;Name=lod=125 NA 9p24.2 NA NA NA NA rs11789583 0.1 0.1 0.103 0.0816693 0.1958 0.002 0.0821 0.0658 0.0675 0.2 0.0035 0.1 0.07 0.1458 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.113376 2.113376 NA 0.184419 0.093963 NA 0.065 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118815.2;CLNDSDB=.;CLNDSDBID=. 5.473981 1113 11 57563991 57563991 C T exonic CTNND1 NA synonymous SNV CTNND1:NM_001085469:exon3:c.C180T:p.D60D,CTNND1:NM_001085463:exon4:c.C180T:p.D60D,CTNND1:NM_001085464:exon4:c.C180T:p.D60D,CTNND1:NM_001085465:exon4:c.C180T:p.D60D,CTNND1:NM_001085466:exon4:c.C180T:p.D60D,CTNND1:NM_001085467:exon4:c.C180T:p.D60D,CTNND1:NM_001085468:exon4:c.C180T:p.D60D,CTNND1:NM_001206890:exon4:c.C180T:p.D60D,CTNND1:NM_001085462:exon5:c.C483T:p.D161D,CTNND1:NM_001206883:exon5:c.C321T:p.D107D,CTNND1:NM_001206884:exon5:c.C321T:p.D107D,CTNND1:NM_001206886:exon5:c.C321T:p.D107D,CTNND1:NM_001206887:exon5:c.C321T:p.D107D,CTNND1:NM_001206888:exon5:c.C321T:p.D107D,CTNND1:NM_001085458:exon6:c.C483T:p.D161D,CTNND1:NM_001085459:exon6:c.C483T:p.D161D,CTNND1:NM_001085460:exon6:c.C483T:p.D161D,CTNND1:NM_001085461:exon6:c.C483T:p.D161D,CTNND1:NM_001206885:exon6:c.C483T:p.D161D,CTNND1:NM_001206889:exon6:c.C321T:p.D107D,CTNND1:NM_001206891:exon6:c.C321T:p.D107D,CTNND1:NM_001331:exon6:c.C483T:p.D161D exonic ENSG00000198561 NA synonymous SNV ENSG00000198561:ENST00000532245:exon3:c.C180T:p.D60D,ENSG00000198561:ENST00000534647:exon3:c.C249T:p.D83D,ENSG00000198561:ENST00000415361:exon4:c.C180T:p.D60D,ENSG00000198561:ENST00000426142:exon4:c.C180T:p.D60D,ENSG00000198561:ENST00000528232:exon4:c.C180T:p.D60D,ENSG00000198561:ENST00000529986:exon4:c.C180T:p.D60D,ENSG00000198561:ENST00000530094:exon4:c.C180T:p.D60D,ENSG00000198561:ENST00000532463:exon4:c.C180T:p.D60D,ENSG00000198561:ENST00000532787:exon4:c.C180T:p.D60D,ENSG00000198561:ENST00000428599:exon5:c.C483T:p.D161D,ENSG00000198561:ENST00000526357:exon5:c.C321T:p.D107D,ENSG00000198561:ENST00000526938:exon5:c.C483T:p.D161D,ENSG00000198561:ENST00000528621:exon5:c.C321T:p.D107D,ENSG00000198561:ENST00000529873:exon5:c.C321T:p.D107D,ENSG00000198561:ENST00000530068:exon5:c.C321T:p.D107D,ENSG00000198561:ENST00000530748:exon5:c.C321T:p.D107D,ENSG00000198561:ENST00000532844:exon5:c.C321T:p.D107D,ENSG00000198561:ENST00000358694:exon6:c.C483T:p.D161D,ENSG00000198561:ENST00000360682:exon6:c.C483T:p.D161D,ENSG00000198561:ENST00000361332:exon6:c.C483T:p.D161D,ENSG00000198561:ENST00000361391:exon6:c.C483T:p.D161D,ENSG00000198561:ENST00000361796:exon6:c.C483T:p.D161D,ENSG00000198561:ENST00000399039:exon6:c.C483T:p.D161D,ENSG00000198561:ENST00000399050:exon6:c.C483T:p.D161D,ENSG00000198561:ENST00000524630:exon6:c.C483T:p.D161D,ENSG00000198561:ENST00000529526:exon6:c.C321T:p.D107D,ENSG00000198561:ENST00000529919:exon6:c.C483T:p.D161D,ENSG00000198561:ENST00000532649:exon6:c.C321T:p.D107D,ENSG00000198561:ENST00000534579:exon6:c.C321T:p.D107D Score=653;Name=lod=603 NA 11q12.1 NA NA NA NA rs10896644 0.27 0.27 0.263 0.271366 0.4284 0.1012 0.3314 0.1762 0.3712 0.43 0.1 0.32 0.18 0.3559 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.022131 NA NA 0.408938 0.225733 NA 0.283 NA 5.4734286 1113 10 71640255 71640255 G A intronic COL13A1 NA NA NA intronic ENSG00000197467 NA NA NA Score=527;Name=lod=185 NA 10q22.1 Score=847;Name=V$SREBP1_02 NA NA NA rs2395272 0.27 0.27 0.238 0.291933 0.164 0.4613 0.2435 0.2322 0.364 0.17 0.45 0.24 0.22 0.2233 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179581 NA NA 0.139543 0.24601 ID=COSM146950;OCCURENCE=1(stomach) 0.167 NA 5.473157 1113 2 37518045 37518045 G C exonic PRKD3 NA synonymous SNV PRKD3:NM_005813:exon3:c.C525G:p.L175L exonic ENSG00000115825 NA synonymous SNV ENSG00000115825:ENST00000234179:exon3:c.C525G:p.L175L,ENSG00000115825:ENST00000443187:exon3:c.C213G:p.L71L,ENSG00000115825:ENST00000379066:exon4:c.C525G:p.L175L Score=658;Name=lod=628 NA 2p22.2 NA NA NA NA rs10177176 0.37 0.37 0.344 0.30651 0.4274 0.4097 0.3343 0.171 0.2393 0.43 0.45 0.35 0.2 0.3625 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.903069 NA NA 0.403721 0.189287 NA 0.29 NA 5.4730456 1113 11 250877 250877 C T intronic PSMD13 NA NA NA intronic ENSG00000185627 NA NA NA NA NA 11p15.5 NA Name=SMC3_(ab9263),Rad21,CTCF_(C-20),CTCF_(SC-5916),CTCF Name=123 NA rs12793187 0.1 0.1 0.085 0.0750799 0.1879 NA 0.1571 0.0144 0.0603 0.19 NA 0.16 0.02 0.1341 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214829 NA NA 0.205349 0.041307 NA 0.101 NA 5.472651 1113 3 151155620 151155620 G A exonic IGSF10 NA synonymous SNV IGSF10:NM_001178145:exon2:c.C810T:p.N270N,IGSF10:NM_001178146:exon2:c.C666T:p.N222N,IGSF10:NM_178822:exon6:c.C6729T:p.N2243N exonic ENSG00000152580 NA synonymous SNV ENSG00000152580:ENST00000282466:exon6:c.C6729T:p.N2243N Score=358;Name=lod=38 NA 3q25.1 Score=816;Name=V$FREAC3_01 NA NA NA rs6781302 0.62 0.62 0.615 0.591853 0.7565 0.5169 0.5937 0.5015 0.6207 0.76 0.49 0.64 0.56 0.6761 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 -0.39116 NA NA 0.761512 0.531094 NA 0.594 NA 5.4725546 1113 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 1113 20 62196807 62196807 T C exonic HELZ2 NA nonsynonymous SNV HELZ2:NM_033405:exon3:c.A1661G:p.H554R,HELZ2:NM_001037335:exon9:c.A3368G:p.H1123R exonic ENSG00000130589 NA nonsynonymous SNV ENSG00000130589:ENST00000427522:exon3:c.A1661G:p.H554R,ENSG00000130589:ENST00000467148:exon8:c.A3368G:p.H1123R NA NA 20q13.33 NA NA NA NA rs310632 0.97 0.97 0.974 0.983626 0.9423 1 0.9712 0.997 1 0.94 1 0.96 0.99 0.9664 1 1 T 0.0 B 0.0 B 0.463 N 1.000 P -1.175 N -1.05 T -0.962 T 0.000 T 0.025 -0.927 0.385 2.7 0.089 -0.695 4.633 -0.926635 NA 1 0.952565 0.988909 ID=COSM444227;OCCURENCE=1(breast) 0.616 NA 5.4720684 1113 3 54354510 54354510 T C exonic CACNA2D3 NA synonymous SNV CACNA2D3:NM_018398:exon3:c.T246C:p.I82I exonic ENSG00000157445 NA synonymous SNV ENSG00000157445:ENST00000288197:exon3:c.T246C:p.I82I,ENSG00000157445:ENST00000474759:exon3:c.T246C:p.I82I,ENSG00000157445:ENST00000415676:exon4:c.T246C:p.I82I NA NA 3p21.1 NA Name=CEBPB,AP-2alpha,TBP,AP-2gamma,Max Name=6 NA rs9879885 0.67 0.67 0.66 0.653355 0.7316 0.6042 0.611 0.6324 0.682 0.72 0.59 0.66 0.68 0.7252 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591315 NA NA 0.737852 0.670751 ID=COSM446878;OCCURENCE=1(breast) 0.732 NA 5.4720146 1113 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 1113 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=ELK4,ZEB1_(SC-25388),TAF7_(SQ-8),Pol2(phosphoS2),Pol2 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 1113 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 1113 7 100731896 100731896 T C exonic TRIM56 NA synonymous SNV TRIM56:NM_030961:exon3:c.T1303C:p.L435L exonic ENSG00000169871 NA synonymous SNV ENSG00000169871:ENST00000306085:exon3:c.T1303C:p.L435L NA NA 7q22.1 NA NA NA NA rs61730716 0.08 0.08 0.094 0.0776757 0.0567 0.001 0.0605 0.2095 0.0123 0.05 0.0017 0.07 0.23 0.0624 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.071225 NA NA 0.076597 0.173136 NA 0.058 NA 5.4709696 1113 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 1113 12 7818444 7818444 C A intronic APOBEC1 NA NA NA intronic ENSG00000111701 NA NA NA NA NA 12p13.31 NA Name=STAT3 Name=7 NA rs7294364 0.21 0.21 0.21 0.215655 0.169 0.1746 0.1902 0.3026 0.2065 0.17 0.16 0.2 0.33 0.1867 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74455 NA NA 0.173953 0.27803 NA 0.203 NA 5.470347 1113 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 1113 9 2645773 2645773 T G intronic VLDLR NA NA NA intronic ENSG00000147852 NA NA NA NA NA 9p24.2 NA Name=BATF,Rad21,PU.1,IRF4_(M-17),CTCF_(C-20),MEF2A,BCL11A Name=6 NA rs35847091 0.09 0.09 0.093 0.0710863 0.2018 0.003 0.0778 0.0212 0.0695 0.2 0.0035 0.09 0.02 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 1.155613 NA NA 0.185698 0.0463 NA 0.065 NA 5.470302 1113 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 1113 11 124095525 124095525 T C exonic OR8G2 NA nonsynonymous SNV OR8G2:NM_001007249:exon1:c.T128C:p.L43P ncRNA_exonic ENSG00000181214 NA NA NA NA NA 11q24.2 NA NA Name=2 NA rs11219508 0.38 0.38 0.39 0.430711 0.337 0.3155 0.3372 0.5431 0.5603 0.35 0.3 0.34 0.55 0.3712 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.664199 NA NA 0.322113 0.467422 NA 0.493 NA 5.469687 1113 9 101533220 101533220 C T exonic ANKS6 NA nonsynonymous SNV ANKS6:NM_173551:exon10:c.G1930A:p.V644I exonic ENSG00000165138 NA nonsynonymous SNV ENSG00000165138:ENST00000375019:exon9:c.G1027A:p.V343I,ENSG00000165138:ENST00000540940:exon9:c.G1345A:p.V449I,ENSG00000165138:ENST00000353234:exon10:c.G1930A:p.V644I,ENSG00000165138:ENST00000375018:exon10:c.G1930A:p.V644I NA NA 9q22.33 NA NA NA NA rs6415847 0.87 0.87 0.889 0.8752 0.9742 0.7421 0.8314 0.9448 0.8476 0.97 0.7 0.85 0.93 0.923 0.97 1 T 0.0 B 0.001 B 0.205 N 1.000 P -0.095 N 1.84 T -0.951 T 0.000 T 0.152 0.128 4.689 2.51 0.763 0.930 8.107 0.128057 NA 1 0.966562 0.955427 NA 0.928 NA 5.4695714 1113 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 1113 22 50632869 50632869 C T exonic TRABD NA synonymous SNV TRABD:NM_025204:exon4:c.C213T:p.D71D exonic ENSG00000170638 NA synonymous SNV ENSG00000170638:ENST00000395829:exon3:c.C213T:p.D71D,ENSG00000170638:ENST00000303434:exon4:c.C213T:p.D71D,ENSG00000170638:ENST00000380909:exon4:c.C213T:p.D71D,ENSG00000170638:ENST00000395827:exon4:c.C213T:p.D71D NA NA 22q13.33 NA NA NA NA rs4838813 0.04 0.04 0.047 0.0279553 0.0716 0.005 0.0432 0.0045 0.0276 0.07 0.01 0.05 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 -0.848642 NA NA 0.068303 0.012494 NA 0.029 NA 5.4689636 1113 14 106622076 106622076 G A intergenic ADAM6,LINC00226 dist=183718;dist=122193 NA NA exonic ENSG00000211944 NA nonsynonymous SNV ENSG00000211944:ENST00000390604:exon2:c.C169T:p.R57C Score=381;Name=lod=47 NA 14q32.33 NA NA NA NA rs12433709 0.11 0.11 0.073 0.106829 0.1203 0.1369 0.2262 0.0083 0.1104 0.12 0.11 0.23 0.01 0.129 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.377195 1.377195 0.01 0.115319 0.030375 NA 0.058 NA 5.4687144 1113 19 4513559 4513559 A G exonic PLIN4 NA nonsynonymous SNV PLIN4:NM_001080400:exon3:c.T371C:p.V124A exonic ENSG00000167676 NA nonsynonymous SNV ENSG00000167676:ENST00000301286:exon3:c.T371C:p.V124A NA NA 19p13.3 NA NA NA NA rs4807597 0.97 0.97 0.976 0.962061 0.9573 0.9772 0.9741 0.9962 0.8967 0.95 0.97 0.98 1 0.9546 1 0.62 T 0.0 B 0.002 B 0.478 N 1.000 P -0.83 N 2.35 T -0.994 T 0.000 T 0.037 -0.764 0.775 3.22 0.029 -0.126 9.954 -0.764211 NA 0.58 0.952753 0.99325 NA 0.993 NA 5.4686804 1113 1 247587408 247587408 C T exonic NLRP3 NA synonymous SNV NLRP3:NM_001127462:exon3:c.C663T:p.T221T,NLRP3:NM_001243133:exon3:c.C657T:p.T219T,NLRP3:NM_004895:exon3:c.C663T:p.T221T,NLRP3:NM_183395:exon3:c.C663T:p.T221T,NLRP3:NM_001127461:exon4:c.C663T:p.T221T,NLRP3:NM_001079821:exon5:c.C663T:p.T221T exonic ENSG00000162711 NA synonymous SNV ENSG00000162711:ENST00000336119:exon3:c.C663T:p.T221T,ENSG00000162711:ENST00000348069:exon3:c.C663T:p.T221T,ENSG00000162711:ENST00000366496:exon3:c.C663T:p.T221T,ENSG00000162711:ENST00000391827:exon3:c.C663T:p.T221T,ENSG00000162711:ENST00000366497:exon4:c.C663T:p.T221T,ENSG00000162711:ENST00000391828:exon5:c.C663T:p.T221T NA NA 1q44 NA NA NA NA rs7525979 0.12 0.12 0.106 0.116613 0.0547 0.131 0.0879 0.2277 0.0358 0.06 0.14 0.08 0.23 0.0817 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.753588 NA NA 0.061744 0.2197 NA 0.116 NA 5.4685226 1113 16 87445363 87445363 G A exonic ZCCHC14 NA synonymous SNV ZCCHC14:NM_015144:exon12:c.C2553T:p.H851H exonic ENSG00000140948 NA synonymous SNV ENSG00000140948:ENST00000268616:exon12:c.C2553T:p.H851H,ENSG00000140948:ENST00000568020:exon12:c.C2553T:p.H851H NA NA 16q24.2 Score=844;Name=V$AHRARNT_01 NA NA NA rs1050846 0.21 0.21 0.194 0.147364 0.4453 0.002 0.2161 0.0545 0.0675 0.44 NA 0.26 0.06 0.3135 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.190863 NA NA 0.440349 0.120109 NA 0.138 NA 5.4675176 1113 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 1113 22 39222652 39222652 G A exonic NPTXR NA synonymous SNV NPTXR:NM_014293:exon3:c.C951T:p.Y317Y exonic ENSG00000221890 NA synonymous SNV ENSG00000221890:ENST00000333039:exon3:c.C951T:p.Y317Y Score=470;Name=lod=108 NA 22q13.1 NA NA NA NA rs5757299 0.46 0.46 0.455 0.460264 0.3847 0.7589 0.2824 0.4107 0.4233 0.38 0.75 0.27 0.38 0.4147 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 1.03638 NA NA 0.400233 0.379256 NA 0.486 NA 5.4670336 1113 15 85333953 85333953 A G exonic ZNF592 NA synonymous SNV ZNF592:NM_014630:exon5:c.A2238G:p.Q746Q exonic ENSG00000166716 NA synonymous SNV ENSG00000166716:ENST00000299927:exon2:c.A2238G:p.Q746Q,ENSG00000166716:ENST00000559607:exon3:c.A2238G:p.Q746Q,ENSG00000166716:ENST00000560079:exon5:c.A2238G:p.Q746Q Score=655;Name=lod=611 NA 15q25.3 NA NA NA NA rs2241645 0.8 0.8 0.815 0.783946 0.7167 0.9435 0.7176 0.798 0.7168 0.72 0.95 0.72 0.8 0.7501 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 0.862722 NA NA 0.732961 0.791421 NA 0.783 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118955.2;CLNDSDB=.;CLNDSDBID=. 5.4669056 1113 16 2987315 2987315 G A exonic FLYWCH1 NA synonymous SNV FLYWCH1:NM_020912:exon7:c.G1704A:p.P568P,FLYWCH1:NM_032296:exon7:c.G1704A:p.P568P exonic ENSG00000059122 NA synonymous SNV ENSG00000059122:ENST00000253928:exon7:c.G1707A:p.P569P,ENSG00000059122:ENST00000416288:exon7:c.G1704A:p.P568P,ENSG00000059122:ENST00000399667:exon9:c.G1854A:p.P618P NA NA 16p13.3 NA NA NA NA rs61747749 0.04 0.04 0.03 0.0303514 0.0696 0.001 0.0648 0.0038 0.0317 0.06 0.0017 0.1 0.01 0.0623 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 -0.998699 NA NA 0.068154 0.013034 NA 0.022 NA 5.4666126 1113 1 247875314 247875314 C A exonic OR6F1 NA synonymous SNV OR6F1:NM_001005286:exon1:c.G744T:p.V248V exonic ENSG00000169214 NA synonymous SNV ENSG00000169214:ENST00000302084:exon1:c.G744T:p.V248V NA NA 1q44 NA NA NA NA rs41268353 0.04 0.04 0.032 0.0335463 0.0736 0.002 0.0634 0.0045 0.0429 0.07 0.0017 0.09 0.0041 0.0547 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 -0.918994 NA NA 0.07186 0.012937 NA 0.043 NA 5.4665066 1113 17 19713740 19713740 C T exonic ULK2 NA nonsynonymous SNV ULK2:NM_001142610:exon14:c.G1108A:p.V370M,ULK2:NM_014683:exon14:c.G1108A:p.V370M exonic ENSG00000083290 NA nonsynonymous SNV ENSG00000083290:ENST00000361658:exon14:c.G1108A:p.V370M,ENSG00000083290:ENST00000395544:exon14:c.G1108A:p.V370M Score=563;Name=lod=258 NA 17p11.2 NA NA NA NA rs150122 0.9 0.9 0.91 0.886581 0.9662 0.7401 0.9294 0.9637 0.8211 0.96 0.75 0.93 0.97 0.9325 0.97 0.29 T 0.0 B 0.0 B 0.002 N 1.000 P -1.1 N -0.71 T -1.015 T 0.000 T 0.061 -1.187 0.079 -0.961 -0.901 -0.901 4.088 -1.186906 NA 0.18 0.968256 0.962324 NA 0.848 NA 5.4663774 1113 12 49212806 49212806 C T intronic CACNB3 NA NA NA intronic ENSG00000167535 NA NA NA NA NA 12q13.12 NA Name=CtBP2,Rad21,CTCF Name=13 NA rs12369114 0.09 0.09 0.088 0.100839 0.1779 0.003 0.1023 0.0666 0.1677 0.17 0.0017 0.12 0.05 0.1791 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.489829 1.489829 NA 0.176676 0.066985 NA 0.13 NA 5.466324 1113 16 1838703 1838703 G A exonic NUBP2 NA synonymous SNV NUBP2:NM_012225:exon7:c.G804A:p.A268A exonic ENSG00000095906 NA synonymous SNV ENSG00000095906:ENST00000543305:exon6:c.G381A:p.A127A,ENSG00000095906:ENST00000568706:exon6:c.G381A:p.A127A,ENSG00000095906:ENST00000262302:exon7:c.G804A:p.A268A,ENSG00000095906:ENST00000565987:exon8:c.G624A:p.A208A NA NA 16p13.3 NA NA NA NA rs11540961 0.04 0.04 0.019 0.028754 0.0716 0.002 0.0591 0.0061 0.0215 0.06 0.0035 0.07 0.01 0.0562 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 0.043681 NA NA 0.072626 0.0198 NA 0.029 NA 5.4662406 1113 22 43576904 43576904 G A exonic TTLL12 NA synonymous SNV TTLL12:NM_015140:exon3:c.C390T:p.H130H exonic ENSG00000100304 NA synonymous SNV ENSG00000100304:ENST00000216129:exon3:c.C390T:p.H130H NA NA 22q13.2 Score=809;Name=V$AHRARNT_02 NA NA NA rs2071723 0.33 0.33 0.332 0.327676 0.4105 0.3165 0.3905 0.2383 0.3303 0.41 0.29 0.42 0.2 0.3871 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280345 NA NA 0.403094 0.245347 ID=COSM445089;OCCURENCE=1(breast) 0.348 NA 5.4659726 1113 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$HSF2_01 NA NA NA rs2071246 0.74 0.74 0.738 0.721645 0.7455 0.6974 0.6772 0.7791 0.6759 0.75 0.7 0.68 0.81 0.7241 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.392522 NA NA 0.73186 0.748979 NA 0.79 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086022.1;CLNDSDB=.;CLNDSDBID=. 5.4652066 1114 4 175688138 175688138 A G exonic GLRA3 NA synonymous SNV GLRA3:NM_001042543:exon3:c.T243C:p.F81F,GLRA3:NM_006529:exon3:c.T243C:p.F81F exonic ENSG00000145451 NA synonymous SNV ENSG00000145451:ENST00000274093:exon3:c.T243C:p.F81F,ENSG00000145451:ENST00000340217:exon3:c.T243C:p.F81F Score=596;Name=lod=354 NA 4q34.1 Score=898;Name=V$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 1114 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 1114 7 107569517 107569517 A G exonic LAMB1 NA synonymous SNV LAMB1:NM_002291:exon31:c.T4879C:p.L1627L exonic ENSG00000091136 NA synonymous SNV ENSG00000091136:ENST00000393561:exon29:c.T4951C:p.L1651L,ENSG00000091136:ENST00000222399:exon31:c.T4879C:p.L1627L Score=603;Name=lod=378 NA 7q31.1 NA NA NA NA rs1131398 0.45 0.45 0.482 0.433506 0.3857 0.4583 0.3963 0.5492 0.3272 0.39 0.47 0.4 0.55 0.4056 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.171184 NA NA 0.410698 0.536995 NA 0.471 NA 5.4646686 1114 10 96748737 96748737 A T exonic CYP2C9 NA synonymous SNV CYP2C9:NM_000771:exon9:c.A1425T:p.G475G exonic ENSG00000138109 NA synonymous SNV ENSG00000138109:ENST00000260682:exon9:c.A1425T:p.G475G NA NA 10q23.33 NA NA NA NA rs1057911 0.04 0.04 0.03 0.0489217 0.0726 0.0327 0.0375 0.0045 0.1094 0.06 0.04 0.06 0.01 0.0638 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 -0.003397 NA NA 0.06593 0.015207 NA 0.014 NA 5.4643366 1114 22 36922052 36922052 T C exonic EIF3D NA synonymous SNV EIF3D:NM_003753:exon2:c.A117G:p.L39L exonic ENSG00000100353 NA synonymous SNV ENSG00000100353:ENST00000216190:exon2:c.A117G:p.L39L,ENSG00000100353:ENST00000402116:exon2:c.A117G:p.L39L,ENSG00000100353:ENST00000405442:exon2:c.A117G:p.L39L,ENSG00000100353:ENST00000432675:exon2:c.A117G:p.L39L,ENSG00000100353:ENST00000457241:exon2:c.A117G:p.L39L,ENSG00000100353:ENST00000541106:exon2:c.A117G:p.L39L,ENSG00000100353:ENST00000455547:exon3:c.A117G:p.L39L NA NA 22q12.3 NA NA NA NA rs9622410 0.06 0.06 0.052 0.0746805 0.0596 0.002 0.0562 0.1399 0.09 0.05 NA 0.08 0.13 0.0686 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.684075 NA NA 0.074419 0.134816 NA 0.058 NA 5.4640476 1114 11 66288733 66288733 G C intronic BBS1 NA NA NA UTR3 ENSG00000174165 ENST00000534073:c.*348C>G,ENST00000526986:c.*226C>G NA NA NA NA 11q13.2 Score=806;Name=V$OCT_C NA NA NA rs10896125 0.25 0.25 0.231 0.242612 0.2396 0.3036 0.1729 0.2587 0.2106 0.26 0.3 0.21 0.22 0.2321 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.655059 1.655059 NA 0.231083 0.226591 ID=COSM147275;OCCURENCE=1(stomach) 0.217 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082204.1;CLNDSDB=.;CLNDSDBID=. 5.4638837 1114 12 52710309 52710309 G A exonic KRT83 NA synonymous SNV KRT83:NM_002282:exon6:c.C984T:p.N328N exonic ENSG00000170523 NA synonymous SNV ENSG00000170523:ENST00000293670:exon6:c.C984T:p.N328N NA NA 12q13.13 Score=924;Name=V$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 1114 15 86124555 86124555 G A exonic AKAP13 NA nonsynonymous SNV AKAP13:NM_006738:exon7:c.G3256A:p.D1086N,AKAP13:NM_007200:exon7:c.G3256A:p.D1086N exonic ENSG00000170776 NA nonsynonymous SNV ENSG00000170776:ENST00000361243:exon7:c.G3256A:p.D1086N,ENSG00000170776:ENST00000394518:exon7:c.G3256A:p.D1086N,ENSG00000170776:ENST00000559362:exon7:c.G3256A:p.D1086N NA NA 15q25.3 NA NA NA NA rs4843075 0.58 0.58 0.586 0.58127 0.6153 0.5784 0.6182 0.5469 0.5695 0.61 0.58 0.61 0.53 0.6102 0.64 1 T 0.0 B 0.0 B . . 1.000 P -0.55 N 3.16 T -0.976 T 0.000 T 0.034 -0.671 1.068 -0.344 -0.293 0.180 4.211 -0.670763 NA 0.01 0.644103 0.591735 NA 0.572 NA 5.4637304 1114 19 9005719 9005719 A G exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon46:c.T39687C:p.D13229D exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon46:c.T39687C:p.D13229D NA NA 19p13.2 NA NA NA NA rs4804375 0.74 0.74 0.717 0.733227 0.7187 0.7361 0.8098 0.705 0.729 0.7 0.81 0.79 0.71 0.7382 0.81 . . . . . . . . . . . . . . -1.006 T 0.000 T . -0.178 3.132 -4.1 -0.691 -0.802 3.173 -0.178229 NA NA 0.746226 0.733202 NA 0.659 NA 5.4635406 1114 19 18119399 18119399 G A intronic ARRDC2 NA NA NA intronic ENSG00000105643 NA NA NA NA NA 19p13.11 NA Name=Pol2 Name=5 NA rs28597966 0.17 0.17 0.171 0.161941 0.1829 0.124 0.0994 0.2163 0.1503 0.19 0.13 0.14 0.22 0.2062 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.80834 NA NA 0.147579 0.173933 NA 0.254 NA 5.463321 1114 1 16464673 16464673 G A exonic EPHA2 NA synonymous SNV EPHA2:NM_004431:exon5:c.C987T:p.P329P exonic ENSG00000142627 NA synonymous SNV ENSG00000142627:ENST00000358432:exon5:c.C987T:p.P329P Score=393;Name=lod=53 NA 1p36.13 NA NA NA NA rs2230597 0.32 0.32 0.251 0.349441 0.4215 0.1458 0.4294 0.3396 0.4417 0.42 0.13 0.41 0.31 0.3787 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.724773 NA NA 0.403233 0.360581 NA 0.348 NA 5.4632336 1114 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 1114 12 6941021 6941021 G A exonic LEPREL2 NA unknown UNKNOWN exonic ENSG00000110811 NA synonymous SNV ENSG00000110811:ENST00000251761:exon6:c.G600A:p.G200G,ENSG00000110811:ENST00000396725:exon7:c.G1152A:p.G384G Score=521;Name=lod=175 NA 12p13.31 NA NA NA NA rs1047771 0.28 0.28 0.267 0.304912 0.2793 0.3472 0.2896 0.2995 0.3057 0.27 0.3 0.3 0.29 0.3277 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.399579 1.399579 NA 0.263531 0.252955 NA 0.29 NA 5.4628023 1114 22 31971258 31971258 T C exonic SFI1 NA nonsynonymous SNV SFI1:NM_001258326:exon8:c.T718C:p.Y240H,SFI1:NM_001258327:exon8:c.T718C:p.Y240H,SFI1:NM_001258325:exon9:c.T892C:p.Y298H,SFI1:NM_001007467:exon10:c.T964C:p.Y322H,SFI1:NM_014775:exon10:c.T964C:p.Y322H exonic ENSG00000198089 NA nonsynonymous SNV ENSG00000198089:ENST00000414585:exon6:c.T505C:p.Y169H,ENSG00000198089:ENST00000443011:exon6:c.T505C:p.Y169H,ENSG00000198089:ENST00000400289:exon8:c.T718C:p.Y240H,ENSG00000198089:ENST00000443326:exon8:c.T718C:p.Y240H,ENSG00000198089:ENST00000540643:exon9:c.T892C:p.Y298H,ENSG00000198089:ENST00000400288:exon10:c.T964C:p.Y322H,ENSG00000198089:ENST00000432498:exon10:c.T964C:p.Y322H NA NA 22q12.2 Score=805;Name=V$CDPCR3_01 NA NA NA rs5753700 0.96 0.96 0.951 0.955671 0.9642 0.9911 0.9856 0.8873 0.9816 0.97 0.99 0.99 0.87 0.956 0.99 0.71 T 0.0 B 0.001 B 0.257 N 1.000 P 0 N 3.22 T -1.012 T 0.000 T 0.391 -1.152 0.101 -1.01 0.056 0.094 5.113 -1.151756 NA 0.55 0.950526 0.905941 NA 0.87 NA 5.4626074 1114 12 118506186 118506186 A T exonic VSIG10 NA synonymous SNV VSIG10:NM_019086:exon8:c.T1563A:p.L521L exonic ENSG00000176834 NA synonymous SNV ENSG00000176834:ENST00000359236:exon8:c.T1563A:p.L521L NA NA 12q24.23 NA Name=ZNF263 NA NA rs67405503 0.4 0.4 0.395 0.421326 0.4036 0.372 0.4582 0.4516 0.4233 0.41 0.37 0.43 0.41 0.416 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659383 NA NA 0.384615 0.430548 NA 0.464 NA 5.4624516 1114 19 56320200 56320200 C T exonic NLRP11 NA synonymous SNV NLRP11:NM_145007:exon5:c.G1776A:p.R592R exonic ENSG00000179873 NA synonymous SNV ENSG00000179873:ENST00000589824:exon2:c.G1776A:p.R592R,ENSG00000179873:ENST00000592953:exon2:c.G1479A:p.R493R,ENSG00000179873:ENST00000589093:exon3:c.G1776A:p.R592R,ENSG00000179873:ENST00000590409:exon4:c.G1479A:p.R493R,ENSG00000179873:ENST00000360133:exon5:c.G1776A:p.R592R,ENSG00000179873:ENST00000443188:exon5:c.G1776A:p.R592R,ENSG00000179873:ENST00000593244:exon5:c.G1776A:p.R592R NA NA 19q13.43 NA NA NA NA rs16986626 0.16 0.16 0.156 0.136182 0.0666 0.25 0.1499 0.1717 0.0327 0.08 0.27 0.14 0.15 0.0916 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.384466 NA NA 0.046163 0.152746 NA 0.109 NA 5.4623036 1114 20 17479617 17479617 G A exonic BFSP1 NA synonymous SNV BFSP1:NM_001161705:exon6:c.C429T:p.N143N,BFSP1:NM_001195:exon6:c.C804T:p.N268N exonic ENSG00000125864 NA synonymous SNV ENSG00000125864:ENST00000377868:exon6:c.C429T:p.N143N,ENSG00000125864:ENST00000377873:exon6:c.C804T:p.N268N,ENSG00000125864:ENST00000544874:exon7:c.C387T:p.N129N,ENSG00000125864:ENST00000536626:exon8:c.C387T:p.N129N NA NA 20p12.1 NA NA NA NA rs11537702 0.03 0.03 0.036 0.0225639 0.0696 NA 0.0346 0.003 0.0153 0.07 NA 0.03 0.01 0.0564 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 -0.017561 NA NA 0.078721 0.014072 NA 0.022 NA 5.4619456 1114 17 3953083 3953083 T C exonic ZZEF1 NA synonymous SNV ZZEF1:NM_015113:exon37:c.A5934G:p.P1978P exonic ENSG00000074755 NA synonymous SNV ENSG00000074755:ENST00000381638:exon37:c.A5934G:p.P1978P NA NA 17p13.2 NA Name=NRSF NA NA rs781853 0.46 0.46 0.478 0.463059 0.4026 0.2431 0.4078 0.7769 0.3671 0.4 0.26 0.44 0.78 0.4091 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 -0.127804 NA NA 0.393372 0.725828 ID=COSM1383562;OCCURENCE=1(large_intestine) 0.478 NA 5.4615946 1114 17 54450134 54450134 G A exonic ANKFN1 NA synonymous SNV ANKFN1:NM_153228:exon6:c.G738A:p.K246K exonic ENSG00000153930 NA synonymous SNV ENSG00000153930:ENST00000318698:exon6:c.G738A:p.K246K,ENSG00000153930:ENST00000566473:exon6:c.G738A:p.K246K Score=623;Name=lod=452 NA 17q22 Score=758;Name=V$HEN1_02 NA NA NA rs8069322 0.72 0.72 0.687 0.672324 0.7614 0.9583 0.7839 0.3215 0.681 0.76 0.95 0.76 0.35 0.7162 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 -0.143162 NA NA 0.727674 0.366319 NA 0.739 NA 5.4613926 1114 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=JunD,GTF2F1_(RAP-74),ZBTB7A_(SC-34508),YY1,BRCA1_(C-1863),CEBPB,TBP,Egr-1,ELK4,Pol2(b),STAT3,SIX5,eGFP-JunD,THAP1_(SC-98174),Sin3Ak-20,SRF,IRF1,c-Myc,Oct-2,YY1_(C-20),Max,TCF4,GATA-1,BCLAF1_(M33-P5B11),ETS1,ELF1_(SC-631),Pol2-4H8,GABP,NFKB,Znf143_(16618-1-AP),TAF1,POU2F2,USF-1,Pol2 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 1114 1 217804325 217804325 G A UTR5 GPATCH2 NM_018040:c.-12C>T NA NA UTR5 ENSG00000092978 ENST00000366935:c.-12C>T,ENST00000366934:c.-12C>T NA NA Score=603;Name=lod=378 NA 1q41 NA Name=Sin3Ak-20,Oct-2,TCF4,YY1_(C-20),AP-2alpha,YY1,Pol2(b),ELK4,AP-2gamma,TBP,POU2F2,CTCF,TAF7_(SQ-8),HA-E2F1,Pol2,Pol2(phosphoS2),ELF1_(SC-631),HEY1,GABP,Pol2-4H8,TAF1,NFKB Name=148 NA rs944730 0.49 0.49 0.498 0.483626 0.6332 0.1935 0.3876 0.6793 0.4325 0.65 0.17 0.4 0.68 0.6004 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 2.206603 2.206603 NA 0.638863 0.687731 NA 0.565 NA 5.4608704 1114 10 38343260 38343260 G A intronic ZNF33A NA NA NA intronic ENSG00000189180 NA NA NA NA NA 10p11.1 NA Name=MafK_(ab50322) Name=89 NA rs2472160 0.23 0.23 0.237 0.205871 0.1889 0.4107 0.2032 0.1309 0.1155 0.2 0.39 0.17 0.13 0.1799 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15341 NA NA 0.170388 0.146818 NA 0.225 NA 5.460812 1114 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 1114 7 138602056 138602056 G A exonic KIAA1549 NA synonymous SNV KIAA1549:NM_001164665:exon2:c.C2316T:p.P772P,KIAA1549:NM_020910:exon2:c.C2316T:p.P772P exonic ENSG00000122778 NA synonymous SNV ENSG00000122778:ENST00000242365:exon1:c.C2166T:p.P722P,ENSG00000122778:ENST00000422774:exon2:c.C2316T:p.P772P,ENSG00000122778:ENST00000440172:exon2:c.C2316T:p.P772P NA NA 7q34 NA NA NA NA rs61746877 0.03 0.03 0.027 0.0533147 0.0706 0.001 0.0245 0.0257 0.1472 0.07 NA 0.03 0.01 0.0668 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 0.029552 NA NA 0.068782 0.028535 NA 0.007 NA 5.4604846 1114 19 35649281 35649281 A G exonic FXYD5 NA synonymous SNV FXYD5:NM_001164605:exon4:c.A177G:p.P59P,FXYD5:NM_014164:exon4:c.A177G:p.P59P,FXYD5:NM_144779:exon4:c.A177G:p.P59P exonic ENSG00000089327 NA nonsynonymous SNV ENSG00000089327:ENST00000592290:exon4:c.A293G:p.Q98R NA NA 19q13.12 NA NA NA NA rs1128882 0.16 0.16 0.141 0.203275 0.1779 0.1171 0.245 0.1914 0.3047 0.17 0.12 0.21 0.16 0.1911 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04327 NA NA 0.170814 0.218793 NA 0.145 NA 5.460186 1114 1 55529187 55529187 G A exonic PCSK9 NA nonsynonymous SNV PCSK9:NM_174936:exon12:c.G2009A:p.G670E exonic ENSG00000169174 NA nonsynonymous SNV ENSG00000169174:ENST00000302118:exon12:c.G2009A:p.G670E NA NA 1p32.3 NA NA NA NA rs505151 0.9 0.9 0.881 0.898962 0.9652 0.9603 0.964 0.7118 0.9744 0.96 0.95 0.96 0.71 0.9433 0.96 1 T 0.0 B 0.0 B 0.339 N 1.000 P -0.695 N -0.35 T -0.976 T 0.000 T 0.02 -1.388 0.024 0.348 -0.244 0.507 4.570 -1.388314 NA NA 0.964651 0.742624 NA 0.775 CLINSIG=non-pathogenic;CLNDBN=Familial_hypercholesterolemia;CLNREVSTAT=single;CLNACC=RCV000030349.1;CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT;CLNDSDBID=C0020445:143890:144400:397915002:398036000 5.4601824 1114 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 1114 5 66459878 66459878 G C exonic MAST4 NA nonsynonymous SNV MAST4:NM_015183:exon28:c.G4304C:p.R1435P,MAST4:NM_001164664:exon29:c.G4871C:p.R1624P exonic ENSG00000069020 NA nonsynonymous SNV ENSG00000069020:ENST00000261569:exon26:c.G4289C:p.R1430P,ENSG00000069020:ENST00000403666:exon28:c.G4304C:p.R1435P,ENSG00000069020:ENST00000405643:exon28:c.G4334C:p.R1445P,ENSG00000069020:ENST00000403625:exon29:c.G4871C:p.R1624P,ENSG00000069020:ENST00000404260:exon29:c.G4880C:p.R1627P NA NA 5q12.3 Score=801;Name=V$OLF1_01 NA NA NA rs1705399 0.95 0.95 0.957 0.950879 0.9483 0.9028 0.9582 0.9841 0.953 0.96 0.9 0.94 0.98 0.9583 0.98 1 T 0.0 B 0.0 B 0.744 N 1.000 P 0 N -0.12 T -0.975 T 0.000 T 0.399 0.291 5.575 -0.23 -0.171 0.078 5.375 0.290978 NA 0.36 0.967299 0.983452 NA 0.855 NA 5.4594344 1114 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 1114 11 110451885 110451885 A G exonic ARHGAP20 NA synonymous SNV ARHGAP20:NM_001258415:exon15:c.T1716C:p.D572D,ARHGAP20:NM_001258417:exon15:c.T1677C:p.D559D,ARHGAP20:NM_001258418:exon15:c.T1677C:p.D559D,ARHGAP20:NM_001258416:exon16:c.T1707C:p.D569D,ARHGAP20:NM_020809:exon16:c.T1785C:p.D595D exonic ENSG00000137727 NA synonymous SNV ENSG00000137727:ENST00000529591:exon5:c.T414C:p.D138D,ENSG00000137727:ENST00000357139:exon15:c.T1707C:p.D569D,ENSG00000137727:ENST00000524756:exon15:c.T1716C:p.D572D,ENSG00000137727:ENST00000527598:exon15:c.T1677C:p.D559D,ENSG00000137727:ENST00000528829:exon15:c.T1677C:p.D559D,ENSG00000137727:ENST00000260283:exon16:c.T1785C:p.D595D,ENSG00000137727:ENST00000533353:exon16:c.T1707C:p.D569D NA NA 11q23.1 NA NA NA NA rs10488765 0.05 0.05 0.05 0.0519169 0.0706 0.0397 0.0562 0.0454 0.0511 0.07 0.03 0.06 0.03 0.0647 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 0.003936 NA NA 0.072476 0.04975 NA 0.051 NA 5.4588906 1114 4 8031471 8031471 A G exonic ABLIM2 NA synonymous SNV ABLIM2:NM_001130083:exon11:c.T1080C:p.C360C,ABLIM2:NM_001130084:exon11:c.T1080C:p.C360C,ABLIM2:NM_001130085:exon11:c.T1080C:p.C360C,ABLIM2:NM_001130086:exon11:c.T1080C:p.C360C,ABLIM2:NM_032432:exon11:c.T1080C:p.C360C,ABLIM2:NM_001130087:exon12:c.T1113C:p.C371C,ABLIM2:NM_001130088:exon12:c.T1113C:p.C371C exonic ENSG00000163995 NA synonymous SNV ENSG00000163995:ENST00000510277:exon7:c.T384C:p.C128C,ENSG00000163995:ENST00000514025:exon7:c.T384C:p.C128C,ENSG00000163995:ENST00000296372:exon11:c.T1080C:p.C360C,ENSG00000163995:ENST00000341937:exon11:c.T1080C:p.C360C,ENSG00000163995:ENST00000361581:exon11:c.T1080C:p.C360C,ENSG00000163995:ENST00000407564:exon11:c.T1080C:p.C360C,ENSG00000163995:ENST00000447017:exon11:c.T1080C:p.C360C,ENSG00000163995:ENST00000505872:exon11:c.T1080C:p.C360C,ENSG00000163995:ENST00000545242:exon11:c.T1080C:p.C360C,ENSG00000163995:ENST00000318888:exon12:c.T384C:p.C128C,ENSG00000163995:ENST00000361737:exon12:c.T1113C:p.C371C,ENSG00000163995:ENST00000428004:exon12:c.T1113C:p.C371C,ENSG00000163995:ENST00000546334:exon12:c.T1113C:p.C371C Score=539;Name=lod=206 NA 4p16.1 NA Name=STAT3 NA NA rs2385904 0.75 0.75 0.725 0.733626 0.7425 0.7808 0.732 0.7731 0.6237 0.76 0.77 0.72 0.73 0.74 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 1.567844 1.567844 NA 0.725655 0.801938 NA 0.804 NA 5.4585116 1114 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 1114 18 28993501 28993501 C A exonic DSG4 NA synonymous SNV DSG4:NM_001134453:exon15:c.C3123A:p.P1041P,DSG4:NM_177986:exon16:c.C3066A:p.P1022P exonic ENSG00000175065 NA synonymous SNV ENSG00000175065:ENST00000359747:exon15:c.C3123A:p.P1041P,ENSG00000175065:ENST00000308128:exon16:c.C3066A:p.P1022P Score=498;Name=lod=141 NA 18q12.1 Score=749;Name=V$TCF11MAFG_01 NA NA NA rs7234288 0.77 0.77 0.777 0.743211 0.7485 0.8988 0.696 0.6672 0.7137 0.75 0.91 0.73 0.67 0.7239 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 -1.242552 NA NA 0.735869 0.694734 NA 0.768 NA 5.4583976 1114 1 60506762 60506762 G A exonic C1orf87 NA synonymous SNV C1orf87:NM_152377:exon4:c.C384T:p.T128T exonic ENSG00000162598 NA synonymous SNV ENSG00000162598:ENST00000371201:exon4:c.C384T:p.T128T NA NA 1p32.1 NA NA NA NA rs74843231 0.07 0.07 0.08 0.0533147 0.0755 0.0645 0.072 0.0234 0.046 0.08 0.09 0.08 0.04 0.0581 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 -0.895425 NA NA 0.074767 0.030186 ID=COSM146530;OCCURENCE=1(stomach) 0.087 NA 5.4582996 1114 17 39340826 39340826 T C intronic KRTAP4-1 NA NA NA exonic ENSG00000198443 NA nonsynonymous SNV ENSG00000198443:ENST00000398472:exon1:c.A281G:p.H94R NA NA 17q21.2 Score=812;Name=V$AP4_01 NA NA NA rs483893 0.78 0.78 0.9 0.951278 0.9324 0.9474 0.9741 0.9372 0.9775 0.72 0.83 0.86 0.77 0.776 0.86 1 T . . . . . . 1.000 P . . 6.34 T -1.018 T 0.000 T 0.038 -2.307 0.004 0.611 -0.110 0.047 3.940 -2.307435 NA 0.53 NA NA NA 0.022 NA 5.4582667 1114 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 1114 16 81077204 81077204 T A exonic ATMIN NA synonymous SNV ATMIN:NM_015251:exon4:c.T1101A:p.P367P exonic ENSG00000166454 NA synonymous SNV ENSG00000166454:ENST00000566488:exon3:c.T633A:p.P211P,ENSG00000166454:ENST00000299575:exon4:c.T1101A:p.P367P,ENSG00000166454:ENST00000564241:exon4:c.T633A:p.P211P NA NA 16q23.2 NA NA NA NA rs16954513 0.06 0.06 0.05 0.0547125 0.0815 0.001 0.0447 0.1097 0.0153 0.09 0.0017 0.06 0.09 0.061 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 -1.183669 NA NA 0.066744 0.095368 NA 0.036 NA 5.4574226 1114 12 4553332 4553332 A G exonic FGF6 NA synonymous SNV FGF6:NM_020996:exon2:c.T417C:p.V139V exonic ENSG00000111241 NA synonymous SNV ENSG00000111241:ENST00000543077:exon1:c.T54C:p.V18V,ENSG00000111241:ENST00000228837:exon2:c.T417C:p.V139V Score=557;Name=lod=245 NA 12p13.32 NA NA NA NA rs2241280 0.43 0.43 0.406 0.472244 0.3857 0.4177 0.3487 0.5749 0.5665 0.42 0.39 0.36 0.53 0.4245 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.116505 NA NA 0.39907 0.559237 NA 0.413 NA 5.4573966 1114 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 1114 14 64680848 64680848 A G intronic SYNE2 NA NA NA intronic ENSG00000054654,ENSG00000140009 NA NA NA NA Name=Atrial fibrillation 14q23.2 NA NA Name=5 NA rs1152591 0.67 0.67 0.686 0.68131 0.5427 0.7371 0.5706 0.9319 0.5061 0.54 0.69 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 -1.385522 NA NA NA NA NA 0.623 NA 5.4573 1114 15 78189525 78189525 C T intergenic LOC253044,LOC645752 dist=247944;dist=17034 NA NA ncRNA_exonic ENSG00000260139 NA NA NA Score=505;Name=lod=151 NA 15q24.3 Score=781;Name=V$AHR_01 NA NA NA rs4886960 0.56 0.56 0.599 0.548722 0.5427 0.6806 0.6873 0.3714 0.5603 0.55 0.68 0.65 0.37 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 -0.304613 NA NA NA NA NA 0.565 NA 5.4573 1114 2 220476443 220476443 C T exonic STK11IP NA nonsynonymous SNV STK11IP:NM_052902:exon18:c.C2255T:p.S752F exonic ENSG00000144589 NA nonsynonymous SNV ENSG00000144589:ENST00000295641:exon18:c.C2255T:p.S752F,ENSG00000144589:ENST00000456909:exon18:c.C2222T:p.S741F NA NA 2q35 NA NA NA NA rs627530 0.86 0.86 0.842 0.839058 0.9652 0.9921 0.9424 0.4652 0.9836 0.97 1 0.94 0.49 0.9376 1 0.01 D 0.004 B 0.007 B 0.833 N 1.000 P 1.61 L 3.48 T -1.018 T 0.000 T 0.021 1.664 11.52 1.31 0.484 -0.079 3.445 1.664043 1.664043 0.01 0.973291 0.57078 NA 0.804 NA 5.4572424 1114 9 139923265 139923265 A G exonic ABCA2 NA synonymous SNV ABCA2:NM_212533:exon1:c.T60C:p.A20A exonic ENSG00000107331 NA synonymous SNV ENSG00000107331:ENST00000459850:exon1:c.T60C:p.A20A,ENSG00000107331:ENST00000487109:exon1:c.T60C:p.A20A NA NA 9q34.3 NA Name=ZEB1_(SC-25388),HA-E2F1,E2F6_(H-50),CTCF,E2F6,Egr-1 Name=120 NA rs4880189 0.76 0.76 0.78 0.766573 0.7256 0.7708 0.6859 0.8321 0.773 0.72 0.79 0.71 0.84 0.7484 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 0.902222 NA NA 0.735453 0.849811 NA 0.471 NA 5.4572136 1114 9 139370217 139370217 G A exonic SEC16A NA synonymous SNV SEC16A:NM_001276418:exon2:c.C1851T:p.H617H,SEC16A:NM_014866:exon3:c.C1851T:p.H617H exonic ENSG00000148396 NA synonymous SNV ENSG00000148396:ENST00000290037:exon1:c.C1317T:p.H439H,ENSG00000148396:ENST00000313050:exon1:c.C1851T:p.H617H,ENSG00000148396:ENST00000371706:exon1:c.C1317T:p.H439H,ENSG00000148396:ENST00000431893:exon1:c.C1317T:p.H439H NA NA 9q34.3 NA NA NA NA rs76562693 0.03 0.03 0.019 0.0271565 0.0696 NA 0.0447 0.003 0.0317 0.07 NA 0.04 0.01 0.0695 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 -1.025474 NA NA 0.070409 0.015195 ID=COSM1319634,COSM1319633;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 5.4571576 1114 16 3170188 3170188 C T exonic ZNF205 NA synonymous SNV ZNF205:NM_001042428:exon7:c.C1527T:p.C509C,ZNF205:NM_003456:exon7:c.C1527T:p.C509C exonic ENSG00000122386 NA synonymous SNV ENSG00000122386:ENST00000219091:exon7:c.C1527T:p.C509C,ENSG00000122386:ENST00000382192:exon7:c.C1527T:p.C509C Score=463;Name=lod=102 NA 16p13.3 NA NA NA NA rs12032 0.39 0.39 0.36 0.384185 0.4076 0.4365 0.4496 0.2859 0.3926 0.41 0.4 0.45 0.31 0.4133 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.446683 NA NA 0.389018 0.288575 NA 0.246 NA 5.4567486 1114 14 107170128 107170128 C T intergenic LINC00221,NONE dist=218599;dist=NONE NA NA exonic ENSG00000211973 NA nonsynonymous SNV ENSG00000211973:ENST00000390633:exon2:c.G154A:p.A52T NA NA 14q32.33 NA NA Name=5 NA rs11558005 0.18 0.18 0.167 NA NA NA NA NA NA 0.22 0.13 0.18 0.19 0.1889 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292777 NA 0.24 0.188886 0.14575 ID=COSN164828;OCCURENCE=1(breast) 0.058 NA 5.4555474 1114 6 38771096 38771096 T C intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA Name=FOXA1_(C-20),p300,ERalpha_a,GATA3_(SC-268) Name=5 NA rs12192604 0.09 0.09 0.091 0.0814696 0.1958 0.003 0.1167 0.0151 0.1094 0.2 0.0035 0.12 0.02 0.1503 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975379 NA NA 0.198605 0.038357 NA 0.123 NA 5.455295 1114 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 1115 3 52643685 52643685 T C exonic PBRM1 NA synonymous SNV PBRM1:NM_018313:exon17:c.A2211G:p.T737T exonic ENSG00000163939 NA synonymous SNV ENSG00000163939:ENST00000356770:exon15:c.A2115G:p.T705T,ENSG00000163939:ENST00000296302:exon16:c.A2211G:p.T737T,ENSG00000163939:ENST00000337303:exon16:c.A2211G:p.T737T,ENSG00000163939:ENST00000409057:exon16:c.A2211G:p.T737T,ENSG00000163939:ENST00000410007:exon16:c.A2211G:p.T737T,ENSG00000163939:ENST00000412587:exon16:c.A2211G:p.T737T,ENSG00000163939:ENST00000423351:exon16:c.A2211G:p.T737T,ENSG00000163939:ENST00000446103:exon16:c.A2088G:p.T696T,ENSG00000163939:ENST00000394830:exon17:c.A2211G:p.T737T,ENSG00000163939:ENST00000409114:exon17:c.A2256G:p.T752T,ENSG00000163939:ENST00000409767:exon17:c.A2256G:p.T752T Score=569;Name=lod=273 NA 3p21.1 NA NA NA NA rs3755806 0.39 0.39 0.388 0.322484 0.4215 0.4276 0.4611 0.1483 0.2495 0.43 0.49 0.48 0.16 0.382 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.780676 NA NA 0.408837 0.174989 ID=COSM1566685,COSM1566683,COSM1566684;OCCURENCE=1(large_intestine) 0.225 NA 5.4543296 1115 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 1115 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 1115 22 36912630 36912630 A G exonic EIF3D NA synonymous SNV EIF3D:NM_003753:exon12:c.T1101C:p.D367D exonic ENSG00000100353 NA synonymous SNV ENSG00000100353:ENST00000426531:exon2:c.T60C:p.D20D,ENSG00000100353:ENST00000458572:exon5:c.T162C:p.D54D,ENSG00000100353:ENST00000541106:exon11:c.T954C:p.D318D,ENSG00000100353:ENST00000216190:exon12:c.T1101C:p.D367D,ENSG00000100353:ENST00000405442:exon12:c.T1101C:p.D367D NA NA 22q12.3 NA NA NA NA rs11558519 0.06 0.06 0.056 0.0726837 0.0646 0.002 0.0576 0.1271 0.091 0.06 NA 0.08 0.12 0.0704 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.793122 NA NA 0.077791 0.128915 NA 0.058 NA 5.4538756 1115 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 1115 19 2138654 2138654 T G exonic AP3D1 NA synonymous SNV AP3D1:NM_001261826:exon2:c.A156C:p.I52I,AP3D1:NM_003938:exon2:c.A156C:p.I52I exonic ENSG00000065000 NA synonymous SNV ENSG00000065000:ENST00000345016:exon2:c.A156C:p.I52I,ENSG00000065000:ENST00000350812:exon2:c.A156C:p.I52I,ENSG00000065000:ENST00000355272:exon2:c.A156C:p.I52I,ENSG00000065000:ENST00000356926:exon2:c.A156C:p.I52I Score=594;Name=lod=346 NA 19p13.3 NA NA NA NA rs25672 0.29 0.29 0.291 0.236422 0.4453 0.1994 0.2911 0.1127 0.1881 0.45 0.21 0.32 0.13 0.3408 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.599115 1.599115 NA 0.426861 0.162908 NA 0.239 NA 5.4537056 1115 12 26377232 26377232 T C exonic SSPN NA synonymous SNV SSPN:NM_005086:exon2:c.T286C:p.L96L exonic ENSG00000123096 NA synonymous SNV ENSG00000123096:ENST00000242729:exon2:c.T286C:p.L96L,ENSG00000123096:ENST00000535504:exon2:c.T286C:p.L96L NA NA 12p12.1 NA NA NA NA rs34624361 0.07 0.07 0.055 0.0714856 0.0686 0.0357 0.098 0.0915 0.0654 0.07 0.04 0.09 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 0.9753 NA NA 0.072674 0.102587 ID=COSM147456;OCCURENCE=1(stomach) 0.152 NA 5.4535926 1115 9 107266774 107266774 C G exonic OR13F1 NA synonymous SNV OR13F1:NM_001004485:exon1:c.C231G:p.A77A exonic ENSG00000186881 NA synonymous SNV ENSG00000186881:ENST00000334726:exon1:c.C231G:p.A77A Score=313;Name=lod=25 NA 9q31.1 Score=799;Name=V$COMP1_01 NA NA NA rs1949755 0.78 0.78 0.789 0.783347 0.7475 0.7827 0.7666 0.9062 0.6667 0.75 0.77 0.73 0.89 0.7407 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 0.271413 NA NA 0.725 0.86246 NA 0.761 NA 5.4534666 1115 18 67992432 67992432 C T exonic SOCS6 NA synonymous SNV SOCS6:NM_004232:exon2:c.C528T:p.H176H exonic ENSG00000170677 NA synonymous SNV ENSG00000170677:ENST00000397942:exon2:c.C528T:p.H176H,ENSG00000170677:ENST00000578377:exon2:c.C528T:p.H176H,ENSG00000170677:ENST00000582322:exon2:c.C528T:p.H176H NA NA 18q22.2 NA NA NA NA rs2231563 0.04 0.04 0.044 0.0393371 0.0785 0.0198 0.0231 0.0113 0.0685 0.06 0.02 0.03 0.02 0.0609 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 -0.043661 NA NA 0.074186 0.019065 NA 0.022 NA 5.4530806 1115 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 1115 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 1115 6 29141743 29141743 A G exonic OR2J2 NA nonsynonymous SNV OR2J2:NM_030905:exon1:c.A331G:p.T111A exonic ENSG00000204700 NA nonsynonymous SNV ENSG00000204700:ENST00000377167:exon1:c.A331G:p.T111A NA NA 6p22.1 NA NA NA NA rs3129157 0.95 0.95 0.953 0.941494 0.9473 0.9931 0.9366 0.8933 0.9509 0.95 1 0.94 0.91 0.9663 1 0.06 T . . . . . . 1.000 P . . 4.69 T -0.953 T 0.003 T 0.009 -0.512 1.66 -1.74 -1.092 -0.824 7.468 -0.511721 NA 0.12 0.966961 0.918234 NA 0.978 NA 5.4527724 1115 7 139164345 139164345 C A intronic KLRG2 NA NA NA intronic ENSG00000188883 NA NA NA NA NA 7q34 NA Name=AP-2alpha,AP-2gamma Name=6 NA rs12707445 0.11 0.11 0.107 0.0998403 0.1998 0.004 0.1571 0.0802 0.0818 0.19 0.0035 0.15 0.07 0.1495 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.668078 NA NA 0.198023 0.087154 NA 0.181 NA 5.452677 1115 1 75622616 75622616 C T exonic LHX8 NA synonymous SNV LHX8:NM_001256114:exon8:c.C819T:p.H273H,LHX8:NM_001001933:exon9:c.C849T:p.H283H exonic ENSG00000162624 NA synonymous SNV ENSG00000162624:ENST00000356261:exon8:c.C819T:p.H273H,ENSG00000162624:ENST00000294638:exon9:c.C849T:p.H283H Score=708;Name=lod=1009 NA 1p31.1 NA NA NA NA rs941032 0.35 0.35 0.364 0.39397 0.3907 0.2063 0.3026 0.4758 0.545 0.4 0.17 0.33 0.5 0.4105 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.670045 NA NA 0.412907 0.463913 NA 0.333 NA 5.4525596 1115 7 138602071 138602071 A G exonic KIAA1549 NA synonymous SNV KIAA1549:NM_001164665:exon2:c.T2301C:p.T767T,KIAA1549:NM_020910:exon2:c.T2301C:p.T767T exonic ENSG00000122778 NA synonymous SNV ENSG00000122778:ENST00000242365:exon1:c.T2151C:p.T717T,ENSG00000122778:ENST00000422774:exon2:c.T2301C:p.T767T,ENSG00000122778:ENST00000440172:exon2:c.T2301C:p.T767T NA NA 7q34 NA NA NA NA rs61746879 0.06 0.06 0.059 0.0884585 0.0686 0.001 0.036 0.1543 0.1472 0.07 NA 0.04 0.12 0.0764 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.007421 NA NA 0.069357 0.134159 NA 0.051 NA 5.4523096 1115 11 26656563 26656563 C T exonic ANO3 NA synonymous SNV ANO3:NM_031418:exon20:c.C1989T:p.F663F exonic ENSG00000134343 NA synonymous SNV ENSG00000134343:ENST00000531568:exon17:c.C1551T:p.F517F,ENSG00000134343:ENST00000256737:exon20:c.C1989T:p.F663F,ENSG00000134343:ENST00000525139:exon20:c.C1941T:p.F647F,ENSG00000134343:ENST00000537978:exon21:c.C1941T:p.F647F Score=606;Name=lod=387 NA 11p14.2 NA NA NA NA rs7946841 0.33 0.33 0.352 0.341254 0.4165 0.3552 0.2507 0.2277 0.4673 0.43 0.36 0.27 0.2 0.3811 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.033902 NA NA 0.417423 0.234226 NA 0.333 NA 5.4516436 1115 19 50093141 50093141 C A intronic PRRG2 NA NA NA intronic ENSG00000126460,ENSG00000142546 NA NA NA NA NA 19q13.33 NA Name=HEY1 Name=6 NA rs62128117 0.13 0.13 0.127 0.110423 0.2068 0.1548 0.1167 0.0083 0.0992 0.19 0.15 0.15 0.01 0.1571 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 0.389476 NA NA 0.184651 0.028597 NA 0.21 NA 5.451449 1115 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 1115 8 11162496 11162496 A C exonic MTMR9 NA synonymous SNV MTMR9:NM_015458:exon4:c.A564C:p.L188L exonic ENSG00000104643 NA synonymous SNV ENSG00000104643:ENST00000221086:exon4:c.A564C:p.L188L,ENSG00000104643:ENST00000526292:exon4:c.A309C:p.L103L Score=576;Name=lod=292 NA 8p23.1 NA NA NA NA rs2164272 0.41 0.41 0.375 0.40016 0.3917 0.7063 0.353 0.1536 0.4601 0.39 0.69 0.35 0.15 0.4198 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 1.079227 NA NA 0.404884 0.199955 NA 0.37 NA 5.4502826 1115 11 68822831 68822831 C T intronic TPCN2 NA NA NA intronic ENSG00000162341 NA NA NA NA NA 11q13.3 NA Name=HNF4A_(H-171) Name=4 NA rs72917389 0.1 0.1 0.101 0.0978435 0.1968 0.0109 0.0865 0.0189 0.2004 0.21 0.0017 0.1 0.03 0.1758 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.787191 NA NA 0.17713 0.035974 NA 0.13 NA 5.45027 1115 3 52800284 52800284 T C exonic NEK4 NA synonymous SNV NEK4:NM_001193533:exon2:c.A201G:p.L67L,NEK4:NM_003157:exon3:c.A468G:p.L156L exonic ENSG00000114904 NA synonymous SNV ENSG00000114904:ENST00000461689:exon2:c.A201G:p.L67L,ENSG00000114904:ENST00000535191:exon2:c.A201G:p.L67L,ENSG00000114904:ENST00000233027:exon3:c.A468G:p.L156L,ENSG00000114904:ENST00000383721:exon3:c.A468G:p.L156L Score=599;Name=lod=363 NA 3p21.1 NA NA NA NA rs2230535 0.39 0.39 0.386 0.332268 0.4195 0.4296 0.4597 0.1475 0.3016 0.43 0.49 0.48 0.16 0.388 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.250908 1.250908 NA 0.408953 0.177258 NA 0.225 NA 5.4502136 1115 19 45445517 45445517 G A ncRNA_exonic APOC4-APOC2 NA NA NA UTR5 ENSG00000224916,ENSG00000267467 ENST00000436871:c.-18G>A,ENST00000419266:c.-18G>A,ENST00000585685:c.-18G>A,ENST00000589057:c.-18G>A;ENST00000592954:c.-18G>A NA NA NA NA 19q13.32 NA Name=Egr-1 NA NA rs79429216 0.01 0.01 0.01 0.00978435 0.0139 NA 0.0043 NA 0.0327 0.02 0.0017 0.01 NA 0.0228 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 0.873836 NA NA 0.013256 0.002498 NA NA NA 5.450044 1115 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 1115 13 113213605 113213605 G T intronic TUBGCP3 NA NA NA intronic ENSG00000126216 NA NA NA NA NA 13q34 NA Name=c-Fos,GATA-2 Name=18 NA rs3818462 0.16 0.16 0.183 0.125599 0.1769 0.1786 0.1196 0.0802 0.0838 0.19 0.21 0.11 0.1 0.1681 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332167 NA NA 0.205233 0.100318 ID=COSN164570;OCCURENCE=1(NS) 0.261 NA 5.449767 1115 2 215820013 215820013 G A exonic ABCA12 NA synonymous SNV ABCA12:NM_015657:exon35:c.C5352T:p.Y1784Y,ABCA12:NM_173076:exon43:c.C6306T:p.Y2102Y exonic ENSG00000144452 NA synonymous SNV ENSG00000144452:ENST00000389661:exon35:c.C5352T:p.Y1784Y,ENSG00000144452:ENST00000272895:exon43:c.C6306T:p.Y2102Y Score=620;Name=lod=442 NA 2q35 NA NA NA NA rs10498027 0.33 0.33 0.297 0.35004 0.3956 0.2341 0.3905 0.3018 0.4591 0.4 0.22 0.44 0.27 0.4051 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.794849 NA NA 0.416512 0.315252 NA 0.362 NA 5.4494546 1115 2 218682771 218682771 A G exonic TNS1 NA synonymous SNV TNS1:NM_022648:exon24:c.T3972C:p.G1324G exonic ENSG00000079308 NA synonymous SNV ENSG00000079308:ENST00000446688:exon6:c.T1386C:p.G462G,ENSG00000079308:ENST00000430930:exon21:c.T3909C:p.G1303G,ENSG00000079308:ENST00000419504:exon22:c.T3933C:p.G1311G,ENSG00000079308:ENST00000171887:exon24:c.T3972C:p.G1324G Score=432;Name=lod=76 NA 2q35 NA NA NA NA rs3796026 0.32 0.32 0.282 0.332867 0.4056 0.246 0.4121 0.2443 0.411 0.42 0.26 0.42 0.17 0.414 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.836759 NA NA 0.397719 0.234559 NA 0.355 NA 5.4493476 1115 6 29364787 29364787 C T exonic OR12D2 NA nonsynonymous SNV OR12D2:NM_013936:exon1:c.C311T:p.S104F exonic ENSG00000168787 NA nonsynonymous SNV ENSG00000168787:ENST00000383555:exon1:c.C311T:p.S104F NA NA 6p22.1 NA NA NA NA rs3128853 0.97 0.97 0.974 0.978834 0.9483 1 0.9409 0.9924 0.9969 0.95 1 0.94 0.99 0.9755 1 1 T 0.0 B 0.0 B 0.000 N 0.999 P -0.205 N 4.94 T -0.949 T 0.001 T 0.083 -2.705 0 4.03 0.614 -0.166 6.979 -2.705212 NA 1 0.960473 0.986433 NA 1 NA 5.4490604 1115 1 16641899 16641899 C T exonic FBXO42 NA synonymous SNV FBXO42:NM_018994:exon2:c.G15A:p.S5S exonic ENSG00000037637 NA synonymous SNV ENSG00000037637:ENST00000375592:exon2:c.G15A:p.S5S NA NA 1p36.13 Score=780;Name=V$NRSF_01 NA NA NA rs2273311 0.41 0.41 0.373 0.357428 0.4235 0.6786 0.3372 0.0469 0.3926 0.42 0.72 0.36 0.05 0.397 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.994413 NA NA 0.397326 0.120064 NA 0.217 NA 5.4488406 1115 8 118533312 118533312 A G intronic MED30 NA NA NA intronic ENSG00000164758 NA NA NA NA NA 8q24.11 NA Name=YY1,GR,c-Myc,ETS1,FOXA1_(SC-101058),HA-E2F1,FOXA1_(C-20),E2F6,E2F6_(H-50),CTCF,Ini1 Name=19 NA rs11990107 0.19 0.19 0.168 0.188498 0.1889 0.0923 0.196 0.329 0.092 0.19 0.09 0.19 0.28 0.1814 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.103837 NA NA 0.181279 0.278484 NA 0.21 NA 5.448421 1115 12 18446881 18446881 C T exonic PIK3C2G NA synonymous SNV PIK3C2G:NM_004570:exon5:c.C966T:p.C322C exonic ENSG00000139144 NA synonymous SNV ENSG00000139144:ENST00000266497:exon4:c.C966T:p.C322C,ENSG00000139144:ENST00000538779:exon4:c.C966T:p.C322C,ENSG00000139144:ENST00000433979:exon5:c.C966T:p.C322C,ENSG00000139144:ENST00000535651:exon5:c.C966T:p.C322C NA NA 12p12.3 NA NA NA NA rs7301521 0.04 0.04 0.029 0.0269569 0.0676 NA 0.072 0.0038 0.0123 0.07 NA 0.09 0.0041 0.0639 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 -0.920743 NA NA 0.087128 0.014958 NA 0.065 NA 5.4480386 1115 3 66430870 66430870 G A exonic LRIG1 NA synonymous SNV LRIG1:NM_015541:exon19:c.C3099T:p.S1033S exonic ENSG00000144749 NA synonymous SNV ENSG00000144749:ENST00000273261:exon19:c.C3099T:p.S1033S,ENSG00000144749:ENST00000383703:exon20:c.C3030T:p.S1010S NA NA 3p14.1 NA NA NA NA rs61754218 0.05 0.05 0.049 0.0445288 0.0885 0.0179 0.0533 0.003 0.0767 0.09 0.02 0.06 0.0041 0.0593 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 0.036499 NA NA 0.071047 0.016341 NA 0.022 NA 5.4478196 1115 14 57938124 57938124 C T exonic C14orf105 NA synonymous SNV C14orf105:NM_018168:exon6:c.G840A:p.R280R exonic ENSG00000100557 NA synonymous SNV ENSG00000100557:ENST00000216445:exon6:c.G840A:p.R280R,ENSG00000100557:ENST00000534126:exon6:c.G837A:p.R279R,ENSG00000100557:ENST00000422976:exon7:c.G960A:p.R320R Score=467;Name=lod=105 NA 14q22.3 NA NA Name=2 NA rs1152531 0.68 0.68 0.635 0.665935 0.7445 0.9603 0.7622 0.1664 0.8885 0.75 0.95 0.76 0.2 0.7298 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 1.102653 NA NA 0.744767 0.261235 NA 0.645 NA 5.4475996 1115 6 33281843 33281843 A T UTR5 TAPBP NM_172209:c.-25T>A,NM_003190:c.-25T>A,NM_172208:c.-25T>A NA NA UTR5 ENSG00000231925 ENST00000434618:c.-25T>A,ENST00000475304:c.-25T>A,ENST00000489157:c.-25T>A,ENST00000426633:c.-25T>A,ENST00000456592:c.-25T>A,ENST00000467025:c.-25T>A NA NA NA NA 6p21.32 NA Name=STAT1,ELF1_(SC-631),Pol2-4H8,PRDM1_(Val90),TAF1,IRF4_(M-17),NFKB,Pol2,STAT2,YY1,PU.1,EBF,TBP,CCNT2,Egr-1,PAX5-C20,Sin3Ak-20,c-Myc,IRF1,YY1_(C-20) Name=111 NA rs2239840 0.21 0.21 0.184 0.220647 0.2913 0.2619 0.3415 0.0182 0.2935 0.25 0.23 0.33 0.02 0.2962 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08068 NA NA 0.298721 0.062869 NA NA NA 5.4471124 1115 1 146767149 146767149 G T exonic CHD1L NA nonsynonymous SNV CHD1L:NM_001256338:exon17:c.G2041T:p.A681S,CHD1L:NM_001256337:exon18:c.G1810T:p.A604S,CHD1L:NM_001256336:exon22:c.G2353T:p.A785S,CHD1L:NM_004284:exon23:c.G2653T:p.A885S,CHD1L:NM_024568:exon23:c.G2314T:p.A772S exonic ENSG00000131778 NA nonsynonymous SNV ENSG00000131778:ENST00000369259:exon17:c.G2041T:p.A681S,ENSG00000131778:ENST00000361293:exon18:c.G1810T:p.A604S,ENSG00000131778:ENST00000431239:exon20:c.G2371T:p.A791S,ENSG00000131778:ENST00000369258:exon23:c.G2653T:p.A885S NA NA 1q21.1 NA NA NA NA rs4950394 0.97 0.97 0.957 0.968051 0.9592 0.9881 0.9885 0.944 0.9744 0.96 1 0.99 0.93 0.9666 1 1 T 0.0 B 0.0 B 0.691 N 1.000 P -1.39 N -1.24 T -1.054 T 0.092 T 0.142 -0.781 0.729 2.95 0.124 0.498 4.193 -0.780798 NA 1 0.960465 0.943032 NA 0.949 NA 5.4470684 1115 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 1115 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 1115 6 33281842 33281842 G T UTR5 TAPBP NM_172209:c.-24C>A,NM_003190:c.-24C>A,NM_172208:c.-24C>A NA NA UTR5 ENSG00000231925 ENST00000434618:c.-24C>A,ENST00000475304:c.-24C>A,ENST00000489157:c.-24C>A,ENST00000426633:c.-24C>A,ENST00000456592:c.-24C>A,ENST00000467025:c.-24C>A NA NA NA NA 6p21.32 NA Name=STAT2,PU.1,YY1,EBF,TBP,CCNT2,Egr-1,PAX5-C20,Sin3Ak-20,IRF1,c-Myc,YY1_(C-20),STAT1,ELF1_(SC-631),Pol2-4H8,PRDM1_(Val90),IRF4_(M-17),NFKB,TAF1,Pol2 Name=111 NA rs2239841 0.21 0.21 0.185 0.220647 0.2913 0.2619 0.3415 0.0182 0.2935 0.25 0.23 0.33 0.02 0.2965 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.600265 NA NA 0.298721 0.062869 NA NA NA 5.4468124 1115 4 84370091 84370091 A G exonic HELQ NA synonymous SNV HELQ:NM_133636:exon3:c.T1036C:p.L346L exonic ENSG00000163312 NA synonymous SNV ENSG00000163312:ENST00000295488:exon3:c.T1036C:p.L346L,ENSG00000163312:ENST00000508591:exon3:c.T1036C:p.L346L,ENSG00000163312:ENST00000510985:exon3:c.T1036C:p.L346L Score=506;Name=lod=152 NA 4q21.23 NA NA NA NA rs13141136 0.41 0.41 0.399 0.414537 0.3787 0.6766 0.5245 0.1059 0.5204 0.4 0.65 0.49 0.11 0.4336 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.053066 NA NA 0.407726 0.156065 NA 0.217 NA 5.4466406 1115 1 53716416 53716416 G A exonic LRP8 NA synonymous SNV LRP8:NM_017522:exon15:c.C2010T:p.D670D,LRP8:NM_033300:exon15:c.C2112T:p.D704D,LRP8:NM_001018054:exon17:c.C2622T:p.D874D,LRP8:NM_004631:exon17:c.C2622T:p.D874D exonic ENSG00000157193 NA synonymous SNV ENSG00000157193:ENST00000347547:exon15:c.C2112T:p.D704D,ENSG00000157193:ENST00000354412:exon15:c.C2010T:p.D670D,ENSG00000157193:ENST00000465675:exon15:c.C1281T:p.D427D,ENSG00000157193:ENST00000306052:exon17:c.C2622T:p.D874D,ENSG00000157193:ENST00000371454:exon17:c.C2622T:p.D874D Score=587;Name=lod=323 NA 1p32.3 NA NA NA NA rs3737983 0.43 0.43 0.448 0.370807 0.4076 0.6984 0.2867 0.2466 0.2229 0.41 0.72 0.26 0.27 0.4015 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.006644 NA NA 0.411163 0.267363 NA 0.478 NA 5.4464036 1115 11 5776287 5776287 C T exonic OR52N4 NA nonsynonymous SNV OR52N4:NM_001005175:exon1:c.C317T:p.T106I exonic ENSG00000181074 NA nonsynonymous SNV ENSG00000181074:ENST00000317254:exon1:c.C317T:p.T106I NA NA 11p15.4 NA NA NA NA rs7936512 0.93 0.93 0.93 0.922125 0.9712 0.9067 0.8746 0.8843 0.9724 0.97 0.92 0.91 0.89 0.9446 0.97 1 T 0.0 B 0.0 B 0.044 N 1.000 P -2.24 N 4.19 T -1.022 T 0.000 T 0.16 -1.874 0.008 2.21 -0.107 0.453 9.995 -1.87377 NA 1 0.971492 0.897092 NA 0.964 NA 5.4460414 1115 9 140243844 140243844 C T exonic EXD3 NA nonsynonymous SNV EXD3:NM_017820:exon15:c.G1634A:p.C545Y exonic ENSG00000187609 NA nonsynonymous SNV ENSG00000187609:ENST00000340951:exon15:c.G1634A:p.C545Y,ENSG00000187609:ENST00000342129:exon15:c.G674A:p.C225Y NA NA 9q34.3 NA NA NA NA rs28545754 0.57 0.57 0.576 0.579473 0.6054 0.8403 0.4135 0.2625 0.8303 0.62 0.84 0.44 0.27 0.6459 0.84 1 T 0.094 B 0.015 B 0.200 U 1.000 P 0 N 0.05 T -0.946 T 0.000 T 0.135 0.572 7.09 1.9 0.121 0.764 5.786 0.57188 NA 1 0.636223 0.326389 ID=COSM1132534;OCCURENCE=1(prostate) 0.486 NA 5.4458104 1115 12 48596641 48596641 A G exonic OR10AD1 NA synonymous SNV OR10AD1:NM_001004134:exon1:c.T435C:p.L145L exonic ENSG00000172640 NA synonymous SNV ENSG00000172640:ENST00000310248:exon1:c.T435C:p.L145L NA NA 12q13.11 NA NA NA NA rs75539159 0.03 0.03 0.033 0.0245607 0.0815 NA 0.0317 0.0076 0.0092 0.08 NA 0.02 0.01 0.0565 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 -1.412631 NA NA 0.082907 0.020427 NA 0.029 NA 5.4457596 1115 10 27687775 27687775 T C exonic PTCHD3 NA nonsynonymous SNV PTCHD3:NM_001034842:exon4:c.A1752G:p.I584M exonic ENSG00000182077 NA nonsynonymous SNV ENSG00000182077:ENST00000438700:exon4:c.A1752G:p.I584M NA NA 10p12.1 NA NA NA NA rs1638630 0.97 0.97 0.965 0.97504 0.9612 0.997 0.9769 0.9622 0.9826 0.96 1 0.97 0.96 0.9705 1 1 T . . . . 0.009 N 1.000 P . . -2.02 D -0.929 T 0.000 T 0.036 -3.17 0.001 1.18 -0.159 -0.047 4.863 -3.169591 NA NA 0.956279 0.968452 NA 0.942 NA 5.4453544 1115 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 1115 5 140480578 140480578 A G exonic PCDHB3 NA synonymous SNV PCDHB3:NM_018937:exon1:c.A345G:p.Q115Q exonic ENSG00000113205 NA synonymous SNV ENSG00000113205:ENST00000231130:exon1:c.A345G:p.Q115Q NA NA 5q31.3 NA NA NA NA rs17844387 0.05 0.05 0.051 0.058107 0.0716 0.0794 0.036 0.0038 0.1115 0.07 0.08 0.03 0.01 0.0738 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 -0.007294 NA NA 0.076047 0.019746 NA 0.043 NA 5.4452196 1116 8 21955116 21955116 C T exonic FAM160B2 NA synonymous SNV FAM160B2:NM_022749:exon4:c.C387T:p.V129V exonic ENSG00000158863 NA synonymous SNV ENSG00000158863:ENST00000289921:exon4:c.C387T:p.V129V,ENSG00000158863:ENST00000450006:exon4:c.C387T:p.V129V Score=544;Name=lod=216 NA 8p21.3 NA NA NA NA rs11352 0.36 0.36 0.385 0.370407 0.3946 0.374 0.2594 0.3601 0.4346 0.39 0.38 0.28 0.35 0.4195 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66383 NA NA 0.407832 0.338465 NA 0.29 NA 5.4447346 1116 17 8135061 8135061 T C exonic CTC1 NA nonsynonymous SNV CTC1:NM_025099:exon14:c.A2458G:p.I820V exonic ENSG00000178971 NA nonsynonymous SNV ENSG00000178971:ENST00000315684:exon14:c.A2458G:p.I820V,ENSG00000178971:ENST00000449476:exon14:c.A2353G:p.I785V NA NA 17p13.1 NA NA NA NA rs3027238 0.96 0.96 0.965 0.9373 0.9742 0.9881 0.8775 0.91 0.9264 0.98 0.99 0.91 0.92 0.9507 0.99 1 T 0.0 B 0.001 B 0.014 N 1.000 P -0.42 N -1.33 T -0.953 T 0.000 T 0.089 -1.014 0.241 1.07 0.116 0.382 5.961 -1.013646 NA 0.88 0.964303 0.928866 NA 0.949 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116840.2;CLNDSDB=.;CLNDSDBID=. 5.4441304 1116 2 218682474 218682474 A G exonic TNS1 NA synonymous SNV TNS1:NM_022648:exon24:c.T4269C:p.S1423S exonic ENSG00000079308 NA synonymous SNV ENSG00000079308:ENST00000446688:exon6:c.T1683C:p.S561S,ENSG00000079308:ENST00000430930:exon21:c.T4206C:p.S1402S,ENSG00000079308:ENST00000419504:exon22:c.T4230C:p.S1410S,ENSG00000079308:ENST00000171887:exon24:c.T4269C:p.S1423S Score=493;Name=lod=135 NA 2q35 NA NA NA NA rs12694422 0.35 0.35 0.342 0.376797 0.4056 0.246 0.428 0.4009 0.4131 0.42 0.26 0.43 0.3 0.4032 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298641 NA NA 0.413953 0.390604 NA 0.391 NA 5.4439136 1116 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 1116 4 24801315 24801315 G A exonic SOD3 NA nonsynonymous SNV SOD3:NM_003102:exon2:c.G172A:p.A58T exonic ENSG00000109610 NA nonsynonymous SNV ENSG00000109610:ENST00000382120:exon2:c.G172A:p.A58T NA NA 4p15.2 NA NA NA NA rs2536512 0.42 0.42 0.438 0.400559 0.6252 0.3591 0.4597 0.1399 0.5225 0.63 0.34 0.49 0.12 0.6032 0.66 0.43 T 0.188 B 0.009 B 0.413 N 1.000 P 0.805 L 0.86 T -0.939 T 0.000 T 0.024 0.464 6.521 -1.33 0.025 0.175 2.362 0.464435 NA 0.63 0.661586 0.257129 NA 0.442 NA 5.4433474 1116 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 1116 17 1731268 1731268 T C exonic SMYD4 NA synonymous SNV SMYD4:NM_052928:exon2:c.A21G:p.E7E exonic ENSG00000186532 NA synonymous SNV ENSG00000186532:ENST00000305513:exon2:c.A21G:p.E7E,ENSG00000186532:ENST00000570368:exon2:c.A21G:p.E7E,ENSG00000186532:ENST00000571854:exon2:c.A21G:p.E7E,ENSG00000186532:ENST00000576633:exon2:c.A21G:p.E7E Score=414;Name=lod=64 NA 17p13.3 Score=791;Name=V$OCT1_04 NA NA NA rs8067660 0.64 0.64 0.666 0.589257 0.7634 0.4583 0.4971 0.6815 0.4857 0.75 0.49 0.59 0.66 0.6716 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 -0.039526 NA NA 0.788372 0.715161 NA 0.71 NA 5.4432946 1116 8 13356818 13356818 T C exonic DLC1 NA nonsynonymous SNV DLC1:NM_024767:exon2:c.A763G:p.N255D,DLC1:NM_182643:exon2:c.A763G:p.N255D exonic ENSG00000164741 NA nonsynonymous SNV ENSG00000164741:ENST00000276297:exon2:c.A763G:p.N255D,ENSG00000164741:ENST00000316609:exon2:c.A763G:p.N255D,ENSG00000164741:ENST00000511869:exon2:c.A763G:p.N255D NA NA 8p22 NA NA Name=13 NA rs11203494 0.87 0.87 0.947 0.958067 0.9583 0.999 0.9654 0.8994 0.9898 0.83 0.97 0.92 0.8 0.9673 0.97 1 T 0.0 B 0.0 B 0.385 N 1.000 P -1.32 N 3.92 T -0.998 T 0.000 T 0.007 -2.2 0.005 1.93 0.047 0.388 9.908 -2.200419 NA 1 0.964651 0.909896 NA 0.196 NA 5.4430824 1116 17 74162506 74162506 G A intronic RNF157 NA NA NA intronic ENSG00000141576 NA NA NA NA NA 17q25.1 NA Name=CTCF Name=33 NA rs1376356 0.17 0.17 0.152 0.194089 0.1819 0.1399 0.232 0.1899 0.2413 0.18 0.14 0.22 0.16 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 0.669912 NA NA 0.187326 0.194507 NA 0.254 NA 5.442774 1116 2 42396722 42396722 A G UTR5 EML4 NM_019063:c.-30A>G,NM_001145076:c.-30A>G NA NA ncRNA_exonic ENSG00000224875 NA NA NA Score=574;Name=lod=287 NA 2p21 NA Name=YY1_(C-20),Sin3Ak-20,YY1,BAF155,Pol2,TAF1,Pol2-4H8 Name=33 NA rs7233 0.64 0.64 0.616 0.698882 0.67 0.4335 0.8242 0.7262 0.8763 0.65 0.47 0.78 0.69 0.6988 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 3.126276 3.126276 NA 0.688605 0.744666 ID=COSN166074;OCCURENCE=1(breast),1(large_intestine) 0.746 NA 5.442595 1116 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=IRF1,c-Myc,Max,Mxi1_(bHLH),eGFP-JunD,E2F4,THAP1_(SC-98174),Sin3Ak-20,TBP,CCNT2,Egr-1,HA-E2F1,USF1_(SC-8983),Pol2(phosphoS2),USF-1,Pol2,USF2,Pol2-4H8,GABP,NFKB,RFX5_(N-494),HMGN3,TAF1,BCLAF1_(M33-P5B11),ATF3,ETS1,HEY1,ELF1_(SC-631) 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 1116 5 80521485 80521485 C A ncRNA_intronic RNU5D-1,RNU5E-1 NA NA NA ncRNA_intronic ENSG00000247572 NA NA NA NA NA 5q14.1 NA Name=PU.1 NA NA rs7725743 0.07 0.07 0.059 0.0708866 0.0805 0.0476 0.0865 0.059 0.09 0.08 0.04 0.09 0.08 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 -0.040255 NA NA 0.067558 0.05379 NA 0.022 NA 5.4421086 1116 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 1116 17 48703986 48703986 G A exonic CACNA1G NA synonymous SNV CACNA1G:NM_198387:exon34:c.G6627A:p.P2209P,CACNA1G:NM_198388:exon34:c.G6606A:p.P2202P,CACNA1G:NM_001256328:exon35:c.G6654A:p.P2218P,CACNA1G:NM_001256330:exon35:c.G6594A:p.P2198P,CACNA1G:NM_001256331:exon35:c.G6573A:p.P2191P,CACNA1G:NM_001256332:exon35:c.G6558A:p.P2186P,CACNA1G:NM_001256360:exon35:c.G6621A:p.P2207P,CACNA1G:NM_001256361:exon35:c.G6615A:p.P2205P,CACNA1G:NM_198376:exon35:c.G6390A:p.P2130P,CACNA1G:NM_198378:exon35:c.G6696A:p.P2232P,CACNA1G:NM_198379:exon35:c.G6771A:p.P2257P,CACNA1G:NM_198382:exon35:c.G6660A:p.P2220P,CACNA1G:NM_198386:exon35:c.G6675A:p.P2225P,CACNA1G:NM_001256324:exon36:c.G6819A:p.P2273P,CACNA1G:NM_001256325:exon36:c.G6750A:p.P2250P,CACNA1G:NM_001256326:exon36:c.G6738A:p.P2246P,CACNA1G:NM_001256327:exon36:c.G6708A:p.P2236P,CACNA1G:NM_001256329:exon36:c.G6627A:p.P2209P,CACNA1G:NM_001256334:exon36:c.G6459A:p.P2153P,CACNA1G:NM_001256359:exon36:c.G6648A:p.P2216P,CACNA1G:NM_198380:exon36:c.G6840A:p.P2280P,CACNA1G:NM_198383:exon36:c.G6795A:p.P2265P,CACNA1G:NM_198384:exon36:c.G6729A:p.P2243P,CACNA1G:NM_198396:exon36:c.G6906A:p.P2302P,CACNA1G:NM_001256333:exon37:c.G6492A:p.P2164P,CACNA1G:NM_198377:exon37:c.G6975A:p.P2325P,CACNA1G:NM_198385:exon37:c.G6873A:p.P2291P,CACNA1G:NM_018896:exon38:c.G7008A:p.P2336P exonic ENSG00000006283 NA synonymous SNV ENSG00000006283:ENST00000352832:exon34:c.G6627A:p.P2209P,ENSG00000006283:ENST00000442258:exon34:c.G6606A:p.P2202P,ENSG00000006283:ENST00000358244:exon35:c.G6390A:p.P2130P,ENSG00000006283:ENST00000360761:exon35:c.G6660A:p.P2220P,ENSG00000006283:ENST00000429973:exon35:c.G6675A:p.P2225P,ENSG00000006283:ENST00000510115:exon35:c.G6771A:p.P2257P,ENSG00000006283:ENST00000510366:exon35:c.G6573A:p.P2191P,ENSG00000006283:ENST00000512389:exon35:c.G6696A:p.P2232P,ENSG00000006283:ENST00000513964:exon35:c.G6594A:p.P2198P,ENSG00000006283:ENST00000514181:exon35:c.G6654A:p.P2218P,ENSG00000006283:ENST00000514717:exon35:c.G6558A:p.P2186P,ENSG00000006283:ENST00000354983:exon36:c.G6906A:p.P2302P,ENSG00000006283:ENST00000502264:exon36:c.G6795A:p.P2265P,ENSG00000006283:ENST00000503485:exon36:c.G6627A:p.P2209P,ENSG00000006283:ENST00000507609:exon36:c.G6708A:p.P2236P,ENSG00000006283:ENST00000507896:exon36:c.G6459A:p.P2153P,ENSG00000006283:ENST00000513689:exon36:c.G6738A:p.P2246P,ENSG00000006283:ENST00000514079:exon36:c.G6750A:p.P2250P,ENSG00000006283:ENST00000515165:exon36:c.G6729A:p.P2243P,ENSG00000006283:ENST00000515411:exon36:c.G6819A:p.P2273P,ENSG00000006283:ENST00000515765:exon36:c.G6840A:p.P2280P,ENSG00000006283:ENST00000505165:exon37:c.G6492A:p.P2164P,ENSG00000006283:ENST00000507336:exon37:c.G6975A:p.P2325P,ENSG00000006283:ENST00000507510:exon37:c.G6873A:p.P2291P,ENSG00000006283:ENST00000359106:exon38:c.G7008A:p.P2336P NA NA 17q21.33 NA NA NA NA rs9893223 0.14 0.14 0.151 0.192692 0.0557 0.0813 0.1369 0.3858 0.227 0.05 0.08 0.13 0.34 0.1181 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064461 NA NA 0.051347 0.324093 ID=COSM436909,COSM436908,COSM436907;OCCURENCE=1(breast) 0.123 NA 5.4415196 1116 20 30527065 30527065 T C exonic TTLL9 NA synonymous SNV TTLL9:NM_001008409:exon14:c.T1239C:p.H413H exonic ENSG00000131044 NA synonymous SNV ENSG00000131044:ENST00000375938:exon14:c.T1239C:p.H413H,ENSG00000131044:ENST00000535842:exon14:c.T1239C:p.H413H Score=333;Name=lod=30 NA 20q11.21 NA NA NA NA rs6061043 0.42 0.42 0.45 0.42492 0.4195 0.1171 0.4006 0.8086 0.2464 0.41 0.11 0.41 0.8 0.3921 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 -0.051649 NA NA 0.413876 0.746276 ID=COSM1130663;OCCURENCE=1(prostate) 0.493 NA 5.4411906 1116 1 109824250 109824250 G A exonic PSRC1 NA synonymous SNV PSRC1:NM_001005290:exon4:c.C510T:p.N170N,PSRC1:NM_001032291:exon4:c.C510T:p.N170N,PSRC1:NM_032636:exon4:c.C510T:p.N170N exonic ENSG00000134222 NA synonymous SNV ENSG00000134222:ENST00000418914:exon3:c.C510T:p.N170N,ENSG00000134222:ENST00000369903:exon4:c.C510T:p.N170N,ENSG00000134222:ENST00000369904:exon4:c.C510T:p.N170N,ENSG00000134222:ENST00000369907:exon4:c.C510T:p.N170N,ENSG00000134222:ENST00000369909:exon4:c.C510T:p.N170N,ENSG00000134222:ENST00000409138:exon4:c.C510T:p.N170N,ENSG00000134222:ENST00000409267:exon4:c.C510T:p.N170N,ENSG00000134222:ENST00000429031:exon4:c.C510T:p.N170N,ENSG00000134222:ENST00000438534:exon4:c.C510T:p.N170N NA NA 1p13.3 NA NA NA NA rs35358959 0.05 0.05 0.044 0.0427316 0.0835 0.0308 0.0303 0.0166 0.0573 0.08 0.03 0.04 0.02 0.0684 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 0.621626 NA NA 0.073622 0.026101 NA 0.022 NA 5.4411446 1116 16 57499902 57499902 T C exonic POLR2C NA synonymous SNV POLR2C:NM_032940:exon3:c.T174C:p.V58V exonic ENSG00000102978 NA synonymous SNV ENSG00000102978:ENST00000219252:exon3:c.T174C:p.V58V Score=541;Name=lod=211 NA 16q21 Score=773;Name=V$PAX2_01 NA NA NA rs4937 0.73 0.73 0.743 0.758387 0.7485 0.6091 0.6513 0.9644 0.7198 0.73 0.56 0.65 0.96 0.7209 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.477962 1.477962 NA 0.756163 0.931074 NA 0.79 NA 5.4411036 1116 2 185800905 185800905 A T exonic ZNF804A NA nonsynonymous SNV ZNF804A:NM_194250:exon4:c.A782T:p.Q261L exonic ENSG00000170396 NA nonsynonymous SNV ENSG00000170396:ENST00000302277:exon4:c.A782T:p.Q261L NA NA 2q32.1 NA NA NA NA rs12476147 0.66 0.66 0.643 0.619209 0.6193 0.8373 0.6945 0.438 0.5859 0.64 0.86 0.68 0.44 0.6448 0.86 0.22 T 0.0 B 0.0 B 0.203 N 1.000 P -1.5 N 3.49 T -1.065 T 0.000 T 0.038 0.849 8.431 0.194 -0.220 -0.501 1.011 0.848607 NA 0.41 0.628518 0.478665 NA 0.587 NA 5.4407154 1116 14 74061968 74061968 T C exonic ACOT4 NA synonymous SNV ACOT4:NM_152331:exon3:c.T876C:p.I292I exonic ENSG00000177465 NA synonymous SNV ENSG00000177465:ENST00000326303:exon3:c.T876C:p.I292I Score=340;Name=lod=32 NA 14q24.3 Score=854;Name=V$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 1116 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 1116 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 1116 10 30637995 30637995 C G intronic MTPAP NA NA NA intronic ENSG00000107951 NA NA NA NA NA 10p11.23 NA Name=HEY1,RFX5_(N-494),TAF1,NFKB,Pol2-4H8,HDAC2_(SC-6296),E2F6,E2F6_(H-50),USF2,Pol2,USF-1,USF1_(SC-8983),HA-E2F1,ZNF263,YY1,Sin3Ak-20,Mxi1_(bHLH),Max,c-Myc Name=148 NA rs10826783 0.33 0.33 0.272 0.310104 0.5606 0.1518 0.5692 0.0431 0.3926 0.55 0.14 0.51 0.06 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 0.70695 NA NA NA NA NA 0.326 NA 5.4394 1116 15 75113083 75113083 A G exonic LMAN1L NA synonymous SNV LMAN1L:NM_021819:exon8:c.A882G:p.K294K exonic ENSG00000140506 NA synonymous SNV ENSG00000140506:ENST00000379709:exon7:c.A846G:p.K282K,ENSG00000140506:ENST00000309664:exon8:c.A882G:p.K294K NA NA 15q24.1 NA NA NA NA rs1531163 0.19 0.19 0.193 0.259385 0.0517 0.1746 0.1239 0.4297 0.4264 0.06 0.18 0.12 0.44 0.1365 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689684 NA NA 0.039106 0.363223 NA 0.145 NA 5.4393606 1116 6 166721211 166721211 G T exonic PRR18 NA synonymous SNV PRR18:NM_175922:exon1:c.C420A:p.T140T exonic ENSG00000176381 NA synonymous SNV ENSG00000176381:ENST00000322583:exon1:c.C420A:p.T140T Score=559;Name=lod=250 NA 6q27 NA NA Name=7 NA rs13204594 0.76 0.76 0.781 0.764177 0.7455 0.9206 0.6124 0.7322 0.773 0.74 0.92 0.6 0.75 0.7341 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 1.144836 NA NA 0.747811 0.739922 ID=COSM329568;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 5.4392556 1116 11 57157405 57157405 A G exonic PRG2 NA synonymous SNV PRG2:NM_001243245:exon2:c.T13C:p.L5L,PRG2:NM_002728:exon2:c.T13C:p.L5L exonic ENSG00000186652,ENSG00000254979 NA synonymous SNV ENSG00000186652:ENST00000311862:exon2:c.T13C:p.L5L,ENSG00000186652:ENST00000525955:exon2:c.T13C:p.L5L,ENSG00000186652:ENST00000533605:exon2:c.T13C:p.L5L,ENSG00000254979:ENST00000529411:exon3:c.T328C:p.L110L Score=403;Name=lod=58 NA 11q12.1 Score=823;Name=V$NFKB_Q6 NA NA NA rs490358 0.72 0.72 0.688 0.752196 0.7406 0.7718 0.8343 0.6241 0.8589 0.73 0.76 0.8 0.6 0.7569 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 0.973751 NA NA 0.731029 0.627896 NA 0.761 NA 5.4381376 1116 2 218683257 218683257 A G exonic TNS1 NA synonymous SNV TNS1:NM_022648:exon24:c.T3486C:p.A1162A exonic ENSG00000079308 NA synonymous SNV ENSG00000079308:ENST00000446688:exon6:c.T900C:p.A300A,ENSG00000079308:ENST00000430930:exon21:c.T3423C:p.A1141A,ENSG00000079308:ENST00000419504:exon22:c.T3447C:p.A1149A,ENSG00000079308:ENST00000171887:exon24:c.T3486C:p.A1162A Score=366;Name=lod=41 NA 2q35 NA NA NA NA rs2571442 0.39 0.39 0.392 0.402556 0.4066 0.246 0.4294 0.4977 0.4121 0.42 0.26 0.43 0.47 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 0.117714 NA NA 0.41407 0.459147 NA 0.413 NA 5.4378966 1116 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 1116 7 32209459 32209459 C T exonic PDE1C NA synonymous SNV PDE1C:NM_001191058:exon3:c.G246A:p.E82E exonic ENSG00000154678 NA synonymous SNV ENSG00000154678:ENST00000396193:exon3:c.G246A:p.E82E Score=449;Name=lod=89 NA 7p14.3 NA NA NA NA rs977626 0.52 0.52 0.527 0.55012 0.3767 0.7579 0.3127 0.5484 0.6851 0.38 0.76 0.36 0.55 0.4716 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 1.09573 NA NA 0.381467 0.521119 NA 0.457 NA 5.4368996 1116 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 1116 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 1116 11 20673832 20673832 C A intronic SLC6A5 NA NA NA intronic ENSG00000165970 NA NA NA Score=584;Name=lod=316 NA 11p15.1 Score=782;Name=V$ISRE_01 NA NA NA rs72932998 0.11 0.11 0.082 0.0754792 0.1918 0.002 0.1585 0.0129 0.0573 0.2 0.0017 0.18 0.02 0.1623 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.443053 1.443053 NA 0.210233 0.039719 NA 0.051 NA 5.435667 1116 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 1116 17 56326521 56326521 G C exonic LPO NA synonymous SNV LPO:NM_001160102:exon3:c.G177C:p.T59T,LPO:NM_006151:exon5:c.G426C:p.T142T exonic ENSG00000167419 NA synonymous SNV ENSG00000167419:ENST00000580890:exon1:c.G63C:p.T21T,ENSG00000167419:ENST00000421678:exon3:c.G177C:p.T59T,ENSG00000167419:ENST00000543544:exon4:c.G249C:p.T83T,ENSG00000167419:ENST00000581008:exon4:c.G249C:p.T83T,ENSG00000167419:ENST00000262290:exon5:c.G426C:p.T142T,ENSG00000167419:ENST00000582328:exon5:c.G177C:p.T59T NA NA 17q22 NA NA NA NA rs8178329 0.04 0.04 0.04 0.0445288 0.0795 NA 0.0476 0.0492 0.046 0.06 NA 0.06 0.05 0.0654 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 -1.334084 NA NA 0.086163 0.059918 NA 0.036 NA 5.4356036 1116 7 42004600 42004600 G A exonic GLI3 NA synonymous SNV GLI3:NM_000168:exon15:c.C4071T:p.Y1357Y exonic ENSG00000106571 NA synonymous SNV ENSG00000106571:ENST00000395925:exon15:c.C4071T:p.Y1357Y NA NA 7p14.1 NA NA NA NA rs34089404 0.05 0.05 0.051 0.0553115 0.0736 0.0069 0.0403 0.0666 0.0818 0.08 0.0035 0.04 0.08 0.0686 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 -0.034681 NA NA 0.088974 0.054698 NA 0.036 NA 5.4354926 1117 12 53090190 53090190 C T exonic KRT77 NA synonymous SNV KRT77:NM_175078:exon3:c.G783A:p.R261R exonic ENSG00000189182 NA synonymous SNV ENSG00000189182:ENST00000341809:exon3:c.G783A:p.R261R,ENSG00000189182:ENST00000537195:exon4:c.G84A:p.R28R Score=333;Name=lod=30 NA 12q13.13 NA NA NA NA rs7138818 0.37 0.37 0.368 0.406949 0.4026 0.25 0.4092 0.4826 0.4693 0.41 0.23 0.38 0.46 0.4078 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.415535 1.415535 NA 0.421512 0.450976 ID=COSM147528;OCCURENCE=1(stomach) 0.384 NA 5.4347546 1117 19 10676423 10676423 G A exonic KRI1 NA synonymous SNV KRI1:NM_023008:exon2:c.C156T:p.S52S exonic ENSG00000129347 NA synonymous SNV ENSG00000129347:ENST00000361821:exon1:c.C144T:p.S48S,ENSG00000129347:ENST00000312962:exon2:c.C156T:p.S52S,ENSG00000129347:ENST00000539027:exon2:c.C129T:p.S43S,ENSG00000129347:ENST00000544397:exon2:c.C147T:p.S49S Score=352;Name=lod=36 NA 19p13.2 NA Name=GABP,Egr-1,ZBTB7A_(SC-34508) NA NA rs3745245 0.62 0.62 0.64 0.60603 0.7773 0.3472 0.4726 0.7474 0.6002 0.78 0.34 0.52 0.75 0.7088 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 0.379816 NA NA 0.745858 0.748403 ID=COSM1563971;OCCURENCE=1(large_intestine) 0.674 NA 5.4347086 1117 17 6330068 6330068 T C exonic AIPL1 NA synonymous SNV AIPL1:NM_001033054:exon4:c.A462G:p.P154P,AIPL1:NM_001033055:exon4:c.A471G:p.P157P,AIPL1:NM_014336:exon5:c.A651G:p.P217P exonic ENSG00000129221 NA synonymous SNV ENSG00000129221:ENST00000250087:exon4:c.A462G:p.P154P,ENSG00000129221:ENST00000576307:exon4:c.A471G:p.P157P,ENSG00000129221:ENST00000381129:exon5:c.A651G:p.P217P,ENSG00000129221:ENST00000570466:exon5:c.A585G:p.P195P,ENSG00000129221:ENST00000571740:exon5:c.A627G:p.P209P,ENSG00000129221:ENST00000574506:exon5:c.A615G:p.P205P,ENSG00000129221:ENST00000575265:exon5:c.A651G:p.P217P NA NA 17p13.2 Score=779;Name=V$PPARG_03 NA NA NA rs2292546 0.72 0.72 0.738 0.713658 0.7614 0.6716 0.745 0.73 0.6636 0.75 0.66 0.73 0.73 0.725 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 -0.284025 NA NA 0.747093 0.722197 ID=COSM1162537;OCCURENCE=1(pancreas) 0.594 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086230.1;CLNDSDB=.;CLNDSDBID=. 5.4331736 1117 16 56368689 56368689 C T exonic GNAO1 NA synonymous SNV GNAO1:NM_020988:exon5:c.C513T:p.T171T,GNAO1:NM_138736:exon5:c.C513T:p.T171T exonic ENSG00000087258 NA synonymous SNV ENSG00000087258:ENST00000562316:exon4:c.C252T:p.T84T,ENSG00000087258:ENST00000262493:exon5:c.C513T:p.T171T,ENSG00000087258:ENST00000262494:exon5:c.C513T:p.T171T Score=617;Name=lod=429 NA 16q12.2 NA NA NA NA rs1065375 0.52 0.52 0.469 0.497404 0.4026 0.7589 0.5432 0.4153 0.4039 0.4 0.74 0.56 0.4 0.4384 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.656027 1.656027 NA 0.39314 0.406506 NA 0.413 NA 5.4325266 1117 9 94486622 94486622 G A exonic ROR2 NA synonymous SNV ROR2:NM_004560:exon9:c.C2154T:p.P718P exonic ENSG00000169071 NA synonymous SNV ENSG00000169071:ENST00000375708:exon9:c.C2154T:p.P718P,ENSG00000169071:ENST00000375715:exon9:c.C1734T:p.P578P NA NA 9q22.31 NA NA NA NA rs2230577 0.08 0.08 0.067 0.0776757 0.0825 0.1369 0.0937 0.0038 0.1002 0.08 0.14 0.1 0.01 0.0832 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.537795 NA NA 0.068488 0.01498 NA 0.036 NA 5.4324786 1117 12 129278864 129278864 A G exonic SLC15A4 NA synonymous SNV SLC15A4:NM_145648:exon8:c.T1611C:p.F537F exonic ENSG00000139370 NA synonymous SNV ENSG00000139370:ENST00000545031:exon3:c.T162C:p.F54F,ENSG00000139370:ENST00000544112:exon5:c.T600C:p.F200F,ENSG00000139370:ENST00000266771:exon8:c.T1611C:p.F537F Score=475;Name=lod=114 NA 12q24.32 NA NA NA NA rs1059312 0.45 0.45 0.413 0.465455 0.4195 0.4266 0.5389 0.4803 0.4806 0.42 0.44 0.49 0.49 0.4342 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.389845 NA NA 0.380814 0.477304 NA 0.442 NA 5.4321526 1117 13 32785086 32785086 G A exonic FRY NA synonymous SNV FRY:NM_023037:exon34:c.G4506A:p.E1502E exonic ENSG00000073910 NA synonymous SNV ENSG00000073910:ENST00000380250:exon34:c.G4506A:p.E1502E Score=369;Name=lod=42 NA 13q13.1 NA NA NA NA rs798981 0.36 0.36 0.352 0.345647 0.4404 0.1657 0.4409 0.4191 0.2669 0.45 0.13 0.4 0.46 0.3848 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.122735 NA NA 0.409451 0.411795 NA 0.478 NA 5.4320156 1117 2 141274576 141274576 T C exonic LRP1B NA synonymous SNV LRP1B:NM_018557:exon50:c.A8031G:p.Q2677Q exonic ENSG00000168702 NA synonymous SNV ENSG00000168702:ENST00000389484:exon50:c.A8031G:p.Q2677Q Score=683;Name=lod=799 NA 2q22.1 Score=1000;Name=V$SRY_01 NA NA NA rs4954672 0.64 0.64 0.604 0.642372 0.7475 0.4167 0.7363 0.6921 0.6329 0.75 0.39 0.74 0.67 0.715 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 0.891668 NA NA 0.772907 0.695504 NA 0.732 NA 5.4312596 1117 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 1117 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 1117 5 13719022 13719022 T G exonic DNAH5 NA synonymous SNV DNAH5:NM_001369:exon72:c.A12468C:p.G4156G exonic ENSG00000039139 NA synonymous SNV ENSG00000039139:ENST00000265104:exon72:c.A12468C:p.G4156G Score=464;Name=lod=103 NA 5p15.2 NA NA NA NA rs30169 0.41 0.41 0.435 0.419129 0.3966 0.4405 0.4107 0.3858 0.4714 0.41 0.4 0.4 0.41 0.4156 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.958683 NA NA 0.424302 0.388788 NA 0.428 NA 5.4301646 1117 4 172735897 172735897 C G intronic GALNTL6 NA NA NA exonic ENSG00000174473 NA nonsynonymous SNV ENSG00000174473:ENST00000511251:exon2:c.C166G:p.Q56E NA NA 4q34.1 NA NA NA NA rs3796654 0.75 0.75 0.722 0.722644 0.9284 0.8065 0.9035 0.295 0.8742 0.92 0.81 0.9 0.34 0.867 0.94 0 D . . . . . . 1.000 P . . . . -1.067 T 0.000 T 0.009 1.28 10.18 3.23 0.415 0.920 6.691 1.27953 1.27953 NA 0.941628 0.371312 NA 0.725 NA 5.4296387 1117 1 26608782 26608782 C T UTR3 UBXN11 NM_183008:c.*8G>A,NM_001077262:c.*8G>A,NM_145345:c.*8G>A NA NA UTR3 ENSG00000158062 ENST00000314675:c.*8G>A,ENST00000374223:c.*8G>A,ENST00000374217:c.*8G>A,ENST00000374222:c.*8G>A,ENST00000374221:c.*8G>A,ENST00000357089:c.*8G>A NA NA NA NA 1p36.11 NA Name=Egr-1 Name=62 NA rs34209692 0.23 0.23 0.226 0.186302 0.3022 0.2599 0.2349 0.0582 0.1299 0.31 0.25 0.23 0.08 0.3183 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.353218 NA NA 0.283616 0.090996 NA 0.232 NA 5.4292174 1117 2 32822957 32822957 G A exonic BIRC6 NA synonymous SNV BIRC6:NM_016252:exon69:c.G13752A:p.T4584T exonic ENSG00000115760 NA synonymous SNV ENSG00000115760:ENST00000421745:exon69:c.G13752A:p.T4584T NA NA 2p22.3 Score=776;Name=V$ER_Q6 NA NA NA rs2710625 0.37 0.37 0.373 0.332867 0.4344 0.2956 0.3674 0.3207 0.2587 0.43 0.31 0.42 0.31 0.3792 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298964 NA NA 0.423953 0.315933 ID=COSM148834,COSM148835;OCCURENCE=1(stomach) 0.348 NA 5.4291136 1117 10 88702350 88702350 G C exonic MMRN2 NA nonsynonymous SNV MMRN2:NM_024756:exon6:c.C2191G:p.H731D exonic ENSG00000173269 NA nonsynonymous SNV ENSG00000173269:ENST00000372027:exon6:c.C2191G:p.H731D NA NA 10q23.2 NA NA Name=9 NA rs4934281 0.95 0.95 0.944 0.952077 0.9781 0.999 0.9683 0.8638 0.9847 0.98 1 0.96 0.86 0.9616 1 0.75 T 0.0 B 0.0 B 0.068 N 1.000 P -0.895 N 2.61 T -0.975 T 0.000 T 0.027 0.437 6.376 1.02 -0.017 0.541 11.723 0.437455 NA 0.35 0.964651 0.882887 NA 0.565 NA 5.4289824 1117 15 77907145 77907145 G A exonic LINGO1 NA synonymous SNV LINGO1:NM_032808:exon2:c.C1104T:p.S368S exonic ENSG00000169783 NA synonymous SNV ENSG00000169783:ENST00000355300:exon2:c.C1104T:p.S368S,ENSG00000169783:ENST00000561030:exon4:c.C1086T:p.S362S Score=585;Name=lod=319 NA 15q24.3 NA NA NA NA rs3743481 0.49 0.49 0.47 0.519968 0.4056 0.5952 0.4164 0.5666 0.5706 0.42 0.56 0.39 0.58 0.4576 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.061919 NA NA 0.374585 0.511595 ID=COSM1563347;OCCURENCE=1(large_intestine) 0.384 NA 5.4288816 1117 9 111956599 111956599 G A exonic EPB41L4B NA synonymous SNV EPB41L4B:NM_019114:exon21:c.C2124T:p.A708A exonic ENSG00000095203 NA synonymous SNV ENSG00000095203:ENST00000374566:exon21:c.C2124T:p.A708A NA NA 9q31.3 NA NA Name=44 NA rs3750447 0.39 0.39 0.391 0.379992 0.4344 0.2798 0.2709 0.587 0.2249 0.42 0.26 0.3 0.57 0.376 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.51314 NA NA 0.427429 0.529713 NA 0.399 NA 5.4288376 1117 8 118819578 118819578 C T exonic EXT1 NA synonymous SNV EXT1:NM_000127:exon9:c.G1761A:p.E587E exonic ENSG00000182197 NA synonymous SNV ENSG00000182197:ENST00000378204:exon9:c.G1761A:p.E587E Score=505;Name=lod=151 NA 8q24.11 NA NA NA NA rs7837891 0.37 0.37 0.285 0.338458 0.4185 0.38 0.549 0.1634 0.3006 0.42 0.36 0.53 0.18 0.3974 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.113055 NA NA 0.422209 0.212211 NA 0.449 NA 5.4285576 1117 7 142510309 142510309 A G intergenic PRSS3P2,EPHB6 dist=27910;dist=42483 NA NA exonic ENSG00000237254 NA synonymous SNV ENSG00000237254:ENST00000417977:exon2:c.T297C:p.L99L NA NA 7q34 NA Name=EBF,EBF1_(C-8),GATA-1,Pol2 Name=20 NA rs17269 0.39 0.39 0.392 0.407947 0.3748 0.1438 0.3343 0.7731 0.273 0.38 0.14 0.36 0.73 0.3627 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 0.52275 NA NA 0.334014 0.671923 NA 0.399 NA 5.428486 1117 17 33689926 33689926 T C exonic SLFN11 NA nonsynonymous SNV SLFN11:NM_152270:exon2:c.A901G:p.N301D,SLFN11:NM_001104589:exon3:c.A901G:p.N301D,SLFN11:NM_001104587:exon4:c.A901G:p.N301D,SLFN11:NM_001104588:exon4:c.A901G:p.N301D,SLFN11:NM_001104590:exon4:c.A901G:p.N301D exonic ENSG00000172716 NA nonsynonymous SNV ENSG00000172716:ENST00000308377:exon2:c.A901G:p.N301D,ENSG00000172716:ENST00000394566:exon4:c.A901G:p.N301D NA NA 17q12 NA NA NA NA rs4796077 0.97 0.97 0.967 0.961462 0.9722 0.9653 0.987 0.9501 0.9438 0.97 0.98 0.99 0.94 0.9656 0.99 1 T 0.0 B 0.0 B 0.112 N 1.000 P -0.235 N 0.12 T -0.951 T 0.000 T 0.014 -1.154 0.1 1.27 -0.075 -1.815 6.646 -1.154143 NA 1 0.967326 0.945983 NA 0.949 NA 5.4282074 1117 10 104849468 104849468 G A exonic NT5C2 NA synonymous SNV NT5C2:NM_001134373:exon18:c.C1647T:p.D549D,NT5C2:NM_012229:exon19:c.C1647T:p.D549D exonic ENSG00000076685 NA synonymous SNV ENSG00000076685:ENST00000404739:exon17:c.C1647T:p.D549D,ENSG00000076685:ENST00000423468:exon17:c.C1560T:p.D520D,ENSG00000076685:ENST00000343289:exon18:c.C1647T:p.D549D Score=629;Name=lod=478 NA 10q24.32 NA NA NA NA rs3740387 0.41 0.41 0.397 0.422125 0.4135 0.499 0.4135 0.3442 0.4632 0.42 0.46 0.38 0.35 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 0.406033 NA NA 0.408023 0.374943 NA 0.29 NA 5.4280436 1117 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 1117 12 54385599 54385599 C T ncRNA_exonic MIR196A2 NA NA NA ncRNA_exonic ENSG00000207924 NA NA NA Score=723;Name=lod=1153 NA 12q13.13 NA NA NA Score=173;Name=537999_0_+_173 rs11614913 0.39 0.39 0.359 0.332668 0.4105 0.5417 0.389 0.1399 0.2577 0.41 0.56 0.38 0.16 0.422 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.366674 2.366674 NA 0.406616 0.189732 NA 0.413 NA 5.4275506 1117 15 65347405 65347405 G A exonic RASL12 NA synonymous SNV RASL12:NM_016563:exon5:c.C633T:p.T211T exonic ENSG00000103710 NA synonymous SNV ENSG00000103710:ENST00000421977:exon4:c.C576T:p.T192T,ENSG00000103710:ENST00000220062:exon5:c.C633T:p.T211T,ENSG00000103710:ENST00000434605:exon5:c.C600T:p.T200T NA NA 15q22.31 NA NA Name=24 NA rs2232762 0.47 0.47 0.433 0.423722 0.4095 0.7837 0.5202 0.1876 0.318 0.41 0.78 0.51 0.18 0.4319 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 0.579348 NA NA 0.398 0.244545 NA 0.333 NA 5.4272666 1117 14 24901276 24901276 G T exonic KHNYN NA nonsynonymous SNV KHNYN:NM_015299:exon3:c.G809T:p.W270L exonic ENSG00000100441 NA nonsynonymous SNV ENSG00000100441:ENST00000251343:exon3:c.G809T:p.W270L,ENSG00000100441:ENST00000553935:exon3:c.G809T:p.W270L,ENSG00000100441:ENST00000556842:exon3:c.G809T:p.W270L NA NA 14q12 NA Name=ZNF263,Pol2,CTCF,NFKB NA NA rs7151995 0.97 0.97 0.971 0.959465 0.9712 0.9692 0.9798 0.941 0.9479 0.97 0.97 0.98 0.96 0.9657 0.98 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.695 N 2.1 T -0.986 T 0.000 T 0.114 -1.093 0.149 -0.232 -0.289 0.092 6.650 -1.093206 NA 1 0.969186 0.939174 NA 0.957 NA 5.4272474 1117 14 96909025 96909025 A G intronic AK7 NA NA NA intronic ENSG00000140057 NA NA NA NA NA 14q32.2 NA Name=CTCF Name=27 NA rs12431832 0.24 0.24 0.23 0.184904 0.1859 0.498 0.1859 0.0136 0.092 0.18 0.53 0.22 0.02 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 -0.012355 NA NA 0.192674 0.040626 NA 0.225 NA 5.427226 1117 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 1117 13 25008903 25008903 G T exonic PARP4 NA nonsynonymous SNV PARP4:NM_006437:exon31:c.C4376A:p.S1459Y exonic ENSG00000102699 NA nonsynonymous SNV ENSG00000102699:ENST00000381989:exon31:c.C4376A:p.S1459Y NA NA 13q12.12 NA NA NA NA rs9318536 0.9 0.9 0.93 0.943091 0.9513 0.994 0.9654 0.8707 0.9642 0.92 0.94 0.92 0.79 0.9552 0.95 1 T 0.052 B 0.037 B 0.004 U 1.000 P 1.445 L 4.55 T -0.943 T 0.000 T 0.246 -1.362 0.027 -0.063 -0.197 0.271 5.283 -1.362403 NA 0.92 NA NA NA 0.906 NA 5.4268334 1117 6 36355372 36355372 T C UTR5 ETV7 NM_001207039:c.-54A>G,NM_001207035:c.-54A>G,NM_001207038:c.-54A>G,NM_016135:c.-54A>G,NM_001207041:c.-16055A>G,NM_001207040:c.-11661A>G,NM_001207037:c.-11636A>G,NM_001207036:c.-54A>G NA NA ncRNA_UTR5 ENSG00000010030 NA NA NA NA NA 6p21.31 NA Name=SUZ12,ZEB1_(SC-25388) Name=32 NA rs2234071 0.41 0.41 0.387 0.394768 0.5298 0.4187 0.3689 0.2542 0.4397 0.54 0.38 0.38 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 2.115166 2.115166 NA 0.543369 0.29552 NA 0.464 NA 5.426831 1117 17 79478871 79478871 C T intronic ACTG1 NA NA NA intronic ENSG00000184009 NA NA NA NA NA 17q25.3 NA Name=Pol2-4H8,Pol2,SP1,ZBTB33 Name=121 NA rs9912409 0.36 0.36 0.393 0.442093 0.2256 0.8254 0.4135 0.2602 0.5358 0.19 0.73 0.3 0.22 0.3484 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 -1.687399 NA NA NA NA NA 0.043 NA 5.426 1117 5 79966029 79966029 G A exonic MSH3 NA synonymous SNV MSH3:NM_002439:exon4:c.G693A:p.P231P exonic ENSG00000113318 NA synonymous SNV ENSG00000113318:ENST00000265081:exon4:c.G693A:p.P231P NA NA 5q14.1 NA NA NA NA rs1805355 0.2 0.2 0.183 0.182907 0.0537 0.3383 0.2651 0.1974 0.0777 0.05 0.37 0.22 0.2 0.1263 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.229505 NA NA 0.06093 0.18089 NA 0.13 NA 5.4257366 1117 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 1117 19 43967692 43967692 T C intronic LYPD3 NA NA NA intronic ENSG00000124466 NA NA NA NA NA 19q13.31 NA Name=SP1,IRF1,Sin3Ak-20,CCNT2,Egr-1 Name=140 NA rs2682583 0.17 0.17 0.194 0.181709 0.2445 0.0714 0.17 0.1967 0.2188 0.23 0.06 0.17 0.21 0.3298 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.639036 NA NA NA NA NA 0.232 NA 5.4257 1117 1 75190452 75190452 C T exonic CRYZ NA synonymous SNV CRYZ:NM_001130043:exon2:c.G54A:p.G18G,CRYZ:NM_001889:exon2:c.G54A:p.G18G,CRYZ:NM_001130042:exon3:c.G54A:p.G18G exonic ENSG00000116791 NA synonymous SNV ENSG00000116791:ENST00000340866:exon2:c.G54A:p.G18G,ENSG00000116791:ENST00000370871:exon2:c.G54A:p.G18G,ENSG00000116791:ENST00000441120:exon2:c.G54A:p.G18G,ENSG00000116791:ENST00000370870:exon3:c.G54A:p.G18G,ENSG00000116791:ENST00000417775:exon3:c.G54A:p.G18G Score=578;Name=lod=299 NA 1p31.1 Score=829;Name=V$GRE_C NA NA NA rs1051122 0.78 0.78 0.773 0.773562 0.7455 0.7728 0.7954 0.8306 0.7106 0.75 0.79 0.8 0.82 0.7529 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 0.563167 NA NA 0.742907 0.813663 NA 0.717 NA 5.4253596 1117 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 1117 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 1118 5 140710705 140710705 G A exonic PCDHGA1 NA nonsynonymous SNV PCDHGA1:NM_018912:exon1:c.G454A:p.V152I,PCDHGA1:NM_031993:exon1:c.G454A:p.V152I exonic ENSG00000204956 NA nonsynonymous SNV ENSG00000204956:ENST00000378105:exon1:c.G454A:p.V152I,ENSG00000204956:ENST00000517417:exon1:c.G454A:p.V152I NA NA 5q31.3 NA NA NA NA rs2472647 0.94 0.94 0.932 0.934904 0.9732 0.8938 0.9841 0.9115 0.9346 0.98 0.87 0.98 0.94 0.9606 0.98 0.31 T 0.0 B 0.0 B 0.005 N 1.000 P -0.485 N 0.44 T -1.028 T 0.000 T 0.012 0.446 6.424 0.075 -0.021 2.366 0.646 0.446421 NA 0.14 0.975 0.920563 NA 0.949 NA 5.4245334 1118 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$CART1_01 NA NA NA rs8180544 0.48 0.48 0.489 NA NA NA NA NA NA 0.62 0.3 0.49 0.49 0.5955 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453104 NA NA 0.647252 0.4768 NA 0.435 NA 5.4239146 1118 20 3564672 3564672 C T exonic ATRN NA synonymous SNV ATRN:NM_001207047:exon17:c.C2544T:p.Y848Y,ATRN:NM_139321:exon17:c.C2892T:p.Y964Y,ATRN:NM_139322:exon17:c.C2892T:p.Y964Y exonic ENSG00000088812 NA synonymous SNV ENSG00000088812:ENST00000262919:exon17:c.C2892T:p.Y964Y,ENSG00000088812:ENST00000446916:exon17:c.C2892T:p.Y964Y Score=641;Name=lod=536 NA 20p13 Score=781;Name=V$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 1118 2 109429146 109429146 T A exonic CCDC138 NA synonymous SNV CCDC138:NM_144978:exon8:c.T915A:p.A305A exonic ENSG00000163006 NA synonymous SNV ENSG00000163006:ENST00000295124:exon8:c.T915A:p.A305A,ENSG00000163006:ENST00000412964:exon8:c.T915A:p.A305A Score=574;Name=lod=287 NA 2q12.3 NA NA NA NA rs975597 0.68 0.68 0.635 0.614417 0.7555 0.8929 0.7781 0.2186 0.6012 0.76 0.88 0.77 0.24 0.7278 0.88 . . . . . . . . 0.000 P . . . . -1.043 T 0.000 T . 1.302 10.26 0.148 0.074 0.155 2.535 1.301945 1.301945 NA 0.759656 0.310486 NA 0.623 NA 5.4237106 1118 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 1118 17 650206 650206 C T exonic GEMIN4 NA synonymous SNV GEMIN4:NM_015721:exon2:c.G1077A:p.A359A exonic ENSG00000179409 NA synonymous SNV ENSG00000179409:ENST00000576778:exon1:c.G1044A:p.A348A,ENSG00000179409:ENST00000319004:exon2:c.G1077A:p.A359A NA NA 17p13.3 NA NA NA NA rs3744742 0.13 0.13 0.111 0.143171 0.0616 0.3909 0.1657 0.0174 0.1258 0.06 0.33 0.12 0.01 0.1083 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.365853 NA NA 0.073284 0.029511 NA 0.058 NA 5.4234826 1118 17 5462240 5462240 C T exonic NLRP1 NA synonymous SNV NLRP1:NM_001033053:exon4:c.G1776A:p.R592R,NLRP1:NM_014922:exon4:c.G1776A:p.R592R,NLRP1:NM_033004:exon4:c.G1776A:p.R592R,NLRP1:NM_033006:exon4:c.G1776A:p.R592R,NLRP1:NM_033007:exon4:c.G1776A:p.R592R exonic ENSG00000091592 NA synonymous SNV ENSG00000091592:ENST00000262467:exon4:c.G1776A:p.R592R,ENSG00000091592:ENST00000345221:exon4:c.G1776A:p.R592R,ENSG00000091592:ENST00000354411:exon4:c.G1776A:p.R592R,ENSG00000091592:ENST00000544378:exon4:c.G1776A:p.R592R,ENSG00000091592:ENST00000571451:exon4:c.G1776A:p.R592R,ENSG00000091592:ENST00000572272:exon4:c.G1776A:p.R592R,ENSG00000091592:ENST00000577119:exon4:c.G1776A:p.R592R,ENSG00000091592:ENST00000269280:exon5:c.G1776A:p.R592R NA NA 17p13.2 NA NA NA NA rs61753142 0.04 0.04 0.035 0.0279553 0.0855 0.001 0.049 0.003 0.0153 0.09 NA 0.04 0.01 0.0624 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 -0.108898 NA NA 0.095465 0.018611 NA 0.036 NA 5.4233016 1118 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 1118 6 143091263 143091263 A G exonic HIVEP2 NA nonsynonymous SNV HIVEP2:NM_006734:exon5:c.T4613C:p.L1538P exonic ENSG00000010818 NA nonsynonymous SNV ENSG00000010818:ENST00000012134:exon3:c.T4613C:p.L1538P,ENSG00000010818:ENST00000367604:exon4:c.T4613C:p.L1538P,ENSG00000010818:ENST00000367603:exon5:c.T4613C:p.L1538P NA NA 6q24.2 NA NA NA NA rs109836 0.98 0.98 0.987 0.978834 0.9692 0.999 0.9697 0.9947 0.953 0.98 1 0.96 1 0.9731 1 0.87 T 0.0 B 0.0 B 0.003 N 1.000 P -1.23 N 4.2 T -0.993 T 0.001 T 0.048 -0.582 1.386 3.46 0.190 0.547 2.339 -0.582006 NA 0.54 0.968223 0.994195 NA 0.935 NA 5.4228104 1118 4 186544879 186544879 G C exonic SORBS2 NA synonymous SNV SORBS2:NM_001145674:exon7:c.C1404G:p.P468P,SORBS2:NM_021069:exon13:c.C1692G:p.P564P,SORBS2:NM_001270771:exon16:c.C1992G:p.P664P exonic ENSG00000154556 NA synonymous SNV ENSG00000154556:ENST00000418609:exon7:c.C1404G:p.P468P,ENSG00000154556:ENST00000284776:exon13:c.C1692G:p.P564P,ENSG00000154556:ENST00000431808:exon14:c.C1692G:p.P564P,ENSG00000154556:ENST00000355634:exon16:c.C1992G:p.P664P NA NA 4q35.1 NA NA NA NA rs61910743 0.05 0.05 0.039 0.0493211 0.0845 NA 0.0403 0.0522 0.0665 0.09 NA 0.04 0.06 0.0789 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 -1.975332 NA NA 0.080623 0.046533 NA 0.065 NA 5.4226436 1118 22 17469026 17469026 G A exonic GAB4 NA synonymous SNV GAB4:NM_001037814:exon3:c.C510T:p.H170H exonic ENSG00000215568 NA synonymous SNV ENSG00000215568:ENST00000400588:exon3:c.C510T:p.H170H NA NA 22q11.1 NA NA Name=3 NA rs5992604 0.39 0.39 0.398 0.424321 0.3966 0.4008 0.4611 0.382 0.5082 0.39 0.4 0.42 0.34 0.4269 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.791053 NA NA 0.420905 0.399766 NA 0.37 NA 5.4222616 1118 8 27886903 27886903 C T exonic NUGGC NA synonymous SNV NUGGC:NM_001010906:exon17:c.G2034A:p.T678T exonic ENSG00000189233 NA synonymous SNV ENSG00000189233:ENST00000341513:exon17:c.G2034A:p.T678T,ENSG00000189233:ENST00000413272:exon17:c.G2034A:p.T678T Score=460;Name=lod=99 NA 8p21.1 NA NA NA NA rs9314357 0.33 0.33 0.322 0.32508 0.4274 0.1181 0.2939 0.4251 0.32 0.44 0.12 0.32 0.41 0.3797 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.562863 NA NA 0.43762 0.417001 NA 0.261 NA 5.4219466 1118 19 44351836 44351836 G A exonic ZNF283 NA synonymous SNV ZNF283:NM_181845:exon7:c.G1083A:p.Q361Q exonic ENSG00000167637 NA synonymous SNV ENSG00000167637:ENST00000588797:exon6:c.G666A:p.Q222Q,ENSG00000167637:ENST00000324461:exon7:c.G1083A:p.Q361Q Score=251;Name=lod=14 NA 19q13.31 NA Name=SETDB1,ZNF274 NA NA rs957569 0.66 0.66 0.69 0.682308 0.7684 0.374 0.536 0.8533 0.7843 0.78 0.37 0.58 0.85 0.7127 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 -0.262284 NA NA 0.764122 0.840313 NA 0.746 NA 5.4214446 1118 17 76567707 76567707 T C exonic DNAH17 NA nonsynonymous SNV DNAH17:NM_173628:exon4:c.A697G:p.T233A exonic ENSG00000187775 NA nonsynonymous SNV ENSG00000187775:ENST00000389840:exon4:c.A697G:p.T233A,ENSG00000187775:ENST00000585328:exon4:c.A697G:p.T233A NA NA 17q25.3 NA NA NA NA rs894968 0.98 0.98 0.985 0.989018 0.9692 0.999 0.987 0.9917 0.9969 0.97 1 0.98 0.99 0.9784 1 0.84 T . . . . . . 1.000 P . . 0.54 T -0.993 T 0.000 T 0.01 -2.157 0.005 -2.63 -0.663 -0.748 5.009 -2.156561 NA 0.66 0.964457 0.988172 NA 0.964 NA 5.4212764 1118 10 29821523 29821523 T C exonic SVIL NA synonymous SNV SVIL:NM_021738:exon8:c.A1773G:p.K591K exonic ENSG00000197321 NA synonymous SNV ENSG00000197321:ENST00000355867:exon8:c.A1773G:p.K591K,ENSG00000197321:ENST00000375398:exon10:c.A1773G:p.K591K Score=511;Name=lod=159 NA 10p11.23 NA NA NA NA rs1328323 0.31 0.31 0.297 0.297324 0.4245 0.0764 0.3818 0.3351 0.2832 0.42 0.09 0.41 0.33 0.3784 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.184498 NA NA 0.442674 0.353155 NA 0.319 NA 5.4210926 1118 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 1118 10 105816916 105816916 C T exonic COL17A1 NA nonsynonymous SNV COL17A1:NM_000494:exon17:c.G1282A:p.G428S exonic ENSG00000065618 NA nonsynonymous SNV ENSG00000065618:ENST00000353479:exon17:c.G1282A:p.G428S,ENSG00000065618:ENST00000369733:exon17:c.G1282A:p.G428S NA NA 10q25.1 NA NA NA NA rs805698 0.84 0.84 0.817 0.81849 0.9841 0.8829 0.9395 0.4902 0.9397 0.99 0.88 0.94 0.49 0.9357 0.99 0.25 T 0.001 B 0.001 B 0.940 N 1.000 P -0.345 N -2.67 D -0.943 T 0.000 T 0.057 0.194 5.044 1.73 0.065 0.881 8.384 0.193741 NA 0.23 0.992907 0.567469 NA 0.761 NA 5.4206264 1118 16 11001680 11001680 G T exonic CIITA NA synonymous SNV CIITA:NM_000246:exon11:c.G2331T:p.S777S exonic ENSG00000179583 NA synonymous SNV ENSG00000179583:ENST00000324288:exon11:c.G2331T:p.S777S NA NA 16p13.13 NA NA NA NA rs34685848 0.04 0.04 0.049 0.0239617 0.0855 0.001 0.0317 0.0008 0.0102 0.09 0.0017 0.03 0.002 0.0675 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 -1.288715 NA NA 0.09308 0.016188 NA 0.022 NA 5.4205866 1118 8 74917084 74917084 A G exonic LY96 NA nonsynonymous SNV LY96:NM_015364:exon2:c.A166G:p.R56G exonic ENSG00000154589 NA nonsynonymous SNV ENSG00000154589:ENST00000284818:exon2:c.A166G:p.R56G NA NA 8q21.11 NA NA NA NA rs6472812 0.99 0.99 0.992 0.990016 0.9801 1 0.9899 0.9992 0.9775 0.98 1 0.98 1 0.9723 1 0.84 T 0.0 B 0.0 B 0.218 N 1.000 P -2.4 N 1.64 T -0.999 T 0.000 T 0.064 -1.292 0.039 3.26 0.788 0.711 6.118 -1.291821 NA 1 0.960784 0.9925 NA 1 NA 5.4201494 1118 7 150556002 150556002 T C exonic ABP1 NA synonymous SNV ABP1:NM_001091:exon3:c.T1722C:p.P574P,ABP1:NM_001272072:exon3:c.T1722C:p.P574P exonic ENSG00000002726 NA synonymous SNV ENSG00000002726:ENST00000360937:exon3:c.T1722C:p.P574P,ENSG00000002726:ENST00000416793:exon3:c.T1722C:p.P574P,ENSG00000002726:ENST00000467291:exon5:c.T1722C:p.P574P,ENSG00000002726:ENST00000493429:exon5:c.T1722C:p.P574P Score=426;Name=lod=72 NA 7q36.1 NA NA NA NA rs1049748 0.49 0.49 0.506 0.515775 0.3877 0.5605 0.4611 0.59 0.5399 0.39 0.59 0.48 0.56 0.4639 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.527202 NA NA 0.394999 0.549816 NA 0.442 NA 5.4200676 1118 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 1118 10 117075175 117075175 G A exonic ATRNL1 NA nonsynonymous SNV ATRNL1:NM_207303:exon18:c.G2966A:p.S989N exonic ENSG00000107518 NA nonsynonymous SNV ENSG00000107518:ENST00000423111:exon3:c.G257A:p.S86N,ENSG00000107518:ENST00000355044:exon18:c.G2966A:p.S989N NA NA 10q25.3 NA NA NA NA rs1953758 0.98 0.98 0.974 0.96905 0.9722 0.999 0.9798 0.9425 0.9632 0.98 1 0.98 0.96 0.9738 1 0.57 T 0.0 B 0.001 B 0.198 N 1.000 P 0.2 N 2.51 T -0.991 T 0.000 T 0.065 -0.476 1.806 -2.54 -0.718 -0.617 11.475 -0.475901 NA 0.55 0.968488 0.957558 NA 0.971 NA 5.4188454 1118 1 8390495 8390495 A G exonic SLC45A1 NA synonymous SNV SLC45A1:NM_001080397:exon4:c.A942G:p.P314P exonic ENSG00000162426 NA synonymous SNV ENSG00000162426:ENST00000289877:exon4:c.A942G:p.P314P,ENSG00000162426:ENST00000377479:exon5:c.A1044G:p.P348P,ENSG00000162426:ENST00000471889:exon5:c.A942G:p.P314P NA NA 1p36.23 Score=1000;Name=V$MZF1_01 Name=Pol2 NA NA rs1058619 0.77 0.77 0.722 0.776358 0.7366 0.8482 0.7824 0.7368 0.7924 0.74 0.84 0.73 0.74 0.7693 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 -0.97413 NA NA 0.742014 0.746812 NA 0.732 NA 5.4187526 1118 6 30515043 30515043 T C exonic GNL1 NA synonymous SNV GNL1:NM_005275:exon10:c.A1287G:p.A429A exonic ENSG00000204590 NA synonymous SNV ENSG00000204590:ENST00000376621:exon10:c.A1287G:p.A429A NA NA 6p21.33 NA NA NA NA rs3130247 0.04 0.04 0.033 0.0219649 0.0785 NA 0.0216 0.0121 NA 0.09 NA 0.03 0.02 0.0629 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 0.412985 NA NA 0.106681 0.034083 NA 0.101 NA 5.4185856 1118 9 141008876 141008876 C T exonic CACNA1B NA synonymous SNV CACNA1B:NM_000718:exon40:c.C5583T:p.F1861F,CACNA1B:NM_001243812:exon40:c.C5583T:p.F1861F exonic ENSG00000148408 NA synonymous SNV ENSG00000148408:ENST00000371357:exon40:c.C5580T:p.F1860F,ENSG00000148408:ENST00000371363:exon40:c.C5577T:p.F1859F,ENSG00000148408:ENST00000277549:exon41:c.C3165T:p.F1055F,ENSG00000148408:ENST00000277551:exon41:c.C5583T:p.F1861F,ENSG00000148408:ENST00000371355:exon41:c.C5586T:p.F1862F,ENSG00000148408:ENST00000371372:exon41:c.C5583T:p.F1861F Score=596;Name=lod=351 NA 9q34.3 Score=739;Name=V$PPARG_01 NA NA NA rs2229948 0.5 0.5 0.467 0.504593 0.7773 0.2748 0.745 0.2269 0.6656 0.78 0.23 0.74 0.22 0.7159 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.711516 1.711516 NA 0.754952 0.357584 NA 0.529 NA 5.4185146 1118 19 1619339 1619339 T C exonic TCF3 NA synonymous SNV TCF3:NM_001136139:exon14:c.A1302G:p.S434S,TCF3:NM_003200:exon15:c.A1302G:p.S434S exonic ENSG00000071564 NA synonymous SNV ENSG00000071564:ENST00000453954:exon11:c.A1050G:p.S350S,ENSG00000071564:ENST00000395423:exon12:c.A1149G:p.S383S,ENSG00000071564:ENST00000588136:exon14:c.A1302G:p.S434S,ENSG00000071564:ENST00000262965:exon15:c.A1302G:p.S434S,ENSG00000071564:ENST00000344749:exon15:c.A1302G:p.S434S NA NA 19p13.3 Score=916;Name=V$USF_Q6 NA NA NA rs8140 0.6 0.6 0.534 0.623802 0.3658 0.8839 0.5187 0.7723 0.4949 0.33 0.9 0.47 0.74 0.4963 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 -0.379212 NA NA 0.38638 0.691426 NA 0.543 NA 5.4181866 1118 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=HNF4A_(H-171),HNF4G_(SC-6558) 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 1118 19 56416409 56416409 G A exonic NLRP13 NA synonymous SNV NLRP13:NM_176810:exon8:c.C2517T:p.H839H exonic ENSG00000173572 NA synonymous SNV ENSG00000173572:ENST00000342929:exon8:c.C2517T:p.H839H,ENSG00000173572:ENST00000588751:exon8:c.C2517T:p.H839H NA NA 19q13.43 NA NA NA NA rs28506091 0.06 0.06 0.057 0.0513179 0.0954 NA 0.0735 0.0741 0.0123 0.09 NA 0.07 0.07 0.0681 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 -0.92291 NA NA 0.085465 0.081026 NA 0.065 NA 5.4177016 1118 12 48597064 48597064 A G exonic OR10AD1 NA synonymous SNV OR10AD1:NM_001004134:exon1:c.T12C:p.N4N exonic ENSG00000172640 NA synonymous SNV ENSG00000172640:ENST00000310248:exon1:c.T12C:p.N4N NA NA 12q13.11 NA NA NA NA rs17224828 0.05 0.05 0.047 0.0423323 0.0915 0.006 0.036 0.059 0.0112 0.09 0.01 0.02 0.04 0.069 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 0.061042 NA NA 0.088488 0.061507 NA 0.043 NA 5.4176786 1118 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$PPARA_01 NA NA NA rs10794567 0.67 0.67 0.638 0.64996 0.7744 0.5665 0.7435 0.6112 0.5941 0.78 0.55 0.74 0.59 0.7217 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.148787 NA NA 0.752907 0.626192 NA 0.638 NA 5.4176596 1118 20 62325690 62325690 T C ncRNA_intronic RTEL1-TNFRSF6B NA NA NA exonic ENSG00000258366 NA nonsynonymous SNV ENSG00000258366:ENST00000496816:exon8:c.T890C:p.L297P NA NA 20q13.33 NA NA NA NA rs2738786 0.01 0.01 0.006 0.00898562 0.0288 0.001 0.0144 0.0008 0.0041 0.03 0.0017 0.02 NA 0.0225 0.031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.777172 NA NA 0.031213 0.008246 NA 0.007 NA 5.417487 1118 8 144239859 144239859 A G exonic LY6H NA synonymous SNV LY6H:NM_001135655:exon4:c.T294C:p.C98C,LY6H:NM_002347:exon4:c.T231C:p.C77C,LY6H:NM_001130478:exon5:c.T294C:p.C98C exonic ENSG00000176956 NA synonymous SNV ENSG00000176956:ENST00000342752:exon4:c.T294C:p.C98C,ENSG00000176956:ENST00000430474:exon4:c.T231C:p.C77C,ENSG00000176956:ENST00000414417:exon5:c.T294C:p.C98C NA NA 8q24.3 Score=809;Name=V$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 1118 22 26702015 26702015 A C exonic SEZ6L NA synonymous SNV SEZ6L:NM_001184773:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184774:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184775:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184776:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184777:exon6:c.A1419C:p.T473T,SEZ6L:NM_021115:exon6:c.A1419C:p.T473T exonic ENSG00000100095 NA synonymous SNV ENSG00000100095:ENST00000402979:exon5:c.A738C:p.T246T,ENSG00000100095:ENST00000403121:exon5:c.A738C:p.T246T,ENSG00000100095:ENST00000248933:exon6:c.A1419C:p.T473T,ENSG00000100095:ENST00000343706:exon6:c.A1419C:p.T473T,ENSG00000100095:ENST00000360929:exon6:c.A1419C:p.T473T,ENSG00000100095:ENST00000404234:exon6:c.A1419C:p.T473T,ENSG00000100095:ENST00000529632:exon6:c.A1419C:p.T473T Score=451;Name=lod=91 NA 22q12.1 NA NA NA NA rs1210894 0.39 0.39 0.387 0.362819 0.4433 0.1042 0.3386 0.6611 0.1605 0.46 0.1 0.37 0.64 0.3748 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.484945 NA NA 0.432791 0.623695 ID=COSM149272;OCCURENCE=1(stomach) 0.399 NA 5.4157756 1118 2 238249630 238249630 C T exonic COL6A3 NA synonymous SNV COL6A3:NM_057166:exon35:c.G6108A:p.A2036A,COL6A3:NM_057167:exon37:c.G7311A:p.A2437A,COL6A3:NM_004369:exon38:c.G7929A:p.A2643A exonic ENSG00000163359 NA synonymous SNV ENSG00000163359:ENST00000472056:exon35:c.G6108A:p.A2036A,ENSG00000163359:ENST00000409809:exon36:c.G7311A:p.A2437A,ENSG00000163359:ENST00000346358:exon37:c.G7329A:p.A2443A,ENSG00000163359:ENST00000347401:exon37:c.G7326A:p.A2442A,ENSG00000163359:ENST00000353578:exon37:c.G7311A:p.A2437A,ENSG00000163359:ENST00000295550:exon38:c.G7929A:p.A2643A NA NA 2q37.3 NA NA NA NA rs4433949 0.38 0.38 0.389 0.342452 0.4284 0.4802 0.3329 0.2133 0.2935 0.42 0.5 0.34 0.22 0.3987 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.857662 NA NA 0.423953 0.258284 NA 0.428 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081003.2;CLNDSDB=.;CLNDSDBID=. 5.4156136 1118 11 46749648 46749648 G A exonic F2 NA synonymous SNV F2:NM_000506:exon10:c.G1233A:p.P411P exonic ENSG00000180210 NA synonymous SNV ENSG00000180210:ENST00000311907:exon10:c.G1233A:p.P411P,ENSG00000180210:ENST00000530231:exon10:c.G1233A:p.P411P NA NA 11p11.2 NA NA NA NA rs5898 0.04 0.04 0.03 0.0397364 0.0825 0.001 0.0274 0.0219 0.0685 0.09 0.0017 0.04 0.01 0.0766 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 0.619605 NA NA 0.092114 0.039527 NA 0.022 NA 5.4154526 1118 18 2547480 2547480 T C exonic METTL4 NA synonymous SNV METTL4:NM_022840:exon6:c.A948G:p.K316K exonic ENSG00000101574 NA synonymous SNV ENSG00000101574:ENST00000319888:exon6:c.A948G:p.K316K,ENSG00000101574:ENST00000574538:exon6:c.A948G:p.K316K NA NA 18p11.32 NA NA NA NA rs35591317 0.03 0.03 0.034 0.0283546 0.0815 NA 0.036 0.0015 0.0337 0.08 NA 0.04 0.002 0.0723 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 -0.669985 NA NA 0.097442 0.016568 NA 0.022 NA 5.4154246 1119 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 1119 19 8191401 8191401 G A exonic FBN3 NA synonymous SNV FBN3:NM_032447:exon19:c.C2505T:p.C835C exonic ENSG00000142449 NA synonymous SNV ENSG00000142449:ENST00000270509:exon19:c.C2505T:p.C835C,ENSG00000142449:ENST00000600128:exon20:c.C2505T:p.C835C,ENSG00000142449:ENST00000601739:exon20:c.C2505T:p.C835C Score=475;Name=lod=114 NA 19p13.2 NA NA NA NA rs3813778 0.3 0.3 0.305 0.26278 0.4404 0.2758 0.2637 0.1309 0.2444 0.43 0.26 0.3 0.14 0.3611 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.35577 1.35577 NA 0.450698 0.172343 ID=COSM440673;OCCURENCE=1(breast) 0.377 NA 5.4144686 1119 11 125280041 125280041 G A intronic PKNOX2 NA NA NA intronic ENSG00000165495 NA NA NA NA NA 11q24.2 NA Name=EBF,EBF1_(C-8) Name=25 NA rs3824919 0.28 0.28 0.232 0.279553 0.165 0.5506 0.4135 0.0454 0.3395 0.17 0.57 0.35 0.07 0.2499 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.779291 NA NA 0.170889 0.071916 NA 0.196 NA 5.414211 1119 10 102783678 102783678 T C intronic PDZD7 NA NA NA exonic ENSG00000186862 NA nonsynonymous SNV ENSG00000186862:ENST00000474125:exon3:c.A374G:p.Q125R NA NA 10q24.31 Score=897;Name=V$AREB6_01 NA NA NA rs6584410 0.59 0.59 0.599 0.596046 0.5775 0.3988 0.5793 0.8381 0.5031 0.56 0.43 0.61 0.81 0.5777 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31963 NA NA 0.597558 0.786201 ID=COSM147031;OCCURENCE=1(stomach) 0.638 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039455.1;CLNDSDB=.;CLNDSDBID=. 5.4139087 1119 4 84364751 84364751 A G exonic HELQ NA synonymous SNV HELQ:NM_133636:exon6:c.T1482C:p.I494I exonic ENSG00000163312 NA synonymous SNV ENSG00000163312:ENST00000510985:exon5:c.T1281C:p.I427I,ENSG00000163312:ENST00000295488:exon6:c.T1482C:p.I494I Score=461;Name=lod=100 NA 4q21.23 NA NA NA NA rs7665103 0.49 0.49 0.467 0.507788 0.3787 0.6736 0.5447 0.4493 0.5225 0.4 0.65 0.51 0.42 0.4668 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164056 NA NA 0.407537 0.443585 NA 0.413 NA 5.4136296 1119 14 94245649 94245649 A G exonic PRIMA1 NA synonymous SNV PRIMA1:NM_178013:exon3:c.T102C:p.H34H exonic ENSG00000175785 NA synonymous SNV ENSG00000175785:ENST00000316227:exon2:c.T102C:p.H34H,ENSG00000175785:ENST00000393143:exon2:c.T102C:p.H34H,ENSG00000175785:ENST00000393140:exon3:c.T102C:p.H34H,ENSG00000175785:ENST00000477603:exon3:c.T102C:p.H34H Score=556;Name=lod=242 NA 14q32.12 Score=944;Name=V$BACH2_01 NA NA NA rs4905087 0.61 0.61 0.592 0.585663 0.7873 0.3155 0.6239 0.6271 0.5736 0.8 0.31 0.67 0.62 0.692 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 0.396342 NA NA 0.773796 0.641462 NA 0.5 NA 5.4135706 1119 6 31079644 31079644 G A exonic C6orf15 NA synonymous SNV C6orf15:NM_014070:exon2:c.C492T:p.P164P exonic ENSG00000204542 NA synonymous SNV ENSG00000204542:ENST00000259870:exon2:c.C492T:p.P164P NA NA 6p21.33 NA NA NA NA rs2233980 0.04 0.04 0.025 0.023762 0.0855 NA 0.0317 0.0083 NA 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 0.24405 NA NA 0.102254 0.028406 NA NA NA 5.4129126 1119 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 1119 11 1026084 1026084 G A exonic MUC6 NA synonymous SNV MUC6:NM_005961:exon21:c.C2604T:p.C868C exonic ENSG00000184956 NA synonymous SNV ENSG00000184956:ENST00000421673:exon21:c.C2604T:p.C868C NA NA 11p15.5 NA NA NA NA rs12801568 0.07 0.07 0.068 0.0617013 0.0875 0.001 0.0591 0.121 0.0194 0.09 0.0017 0.06 0.15 0.0943 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468835 NA NA 0.072404 0.099074 NA 0.094 NA 5.4124626 1119 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 1119 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 1119 22 21167787 21167787 G A exonic PI4KA NA synonymous SNV PI4KA:NM_058004:exon8:c.C864T:p.C288C exonic ENSG00000241973 NA synonymous SNV ENSG00000241973:ENST00000255882:exon8:c.C864T:p.C288C,ENSG00000241973:ENST00000572273:exon8:c.C690T:p.C230C Score=343;Name=lod=33 NA 22q11.21 NA NA NA NA rs165854 0.52 0.52 0.535 0.491414 0.4254 0.5486 0.5144 0.6036 0.3323 0.42 0.57 0.52 0.61 0.4233 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.179383 NA NA 0.406279 0.569451 ID=COSM149259;OCCURENCE=1(stomach) 0.464 NA 5.4116876 1119 17 73000061 73000061 A G exonic CDR2L NA synonymous SNV CDR2L:NM_014603:exon5:c.A1290G:p.E430E exonic ENSG00000109089 NA synonymous SNV ENSG00000109089:ENST00000337231:exon5:c.A1290G:p.E430E Score=537;Name=lod=203 NA 17q25.1 NA NA NA NA rs3744203 0.44 0.44 0.443 0.466454 0.4225 0.1935 0.513 0.7504 0.3763 0.41 0.19 0.46 0.76 0.4458 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 0.786178 NA NA 0.386691 0.694734 ID=COSM437358;OCCURENCE=1(breast) 0.362 NA 5.4116756 1119 1 39340607 39340607 A G exonic GJA9 NA synonymous SNV GJA9:NM_030772:exon2:c.T1164C:p.R388R exonic ENSG00000131233 NA synonymous SNV ENSG00000131233:ENST00000360786:exon1:c.T1164C:p.R388R,ENSG00000131233:ENST00000357771:exon2:c.T1164C:p.R388R,ENSG00000131233:ENST00000454994:exon2:c.T1164C:p.R388R NA NA 1p34.3 NA NA NA NA rs16825625 0.06 0.06 0.058 0.0539137 0.0706 0.0823 0.0504 0.0182 0.0583 0.07 0.09 0.07 0.02 0.084 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 0.177168 NA NA 0.101163 0.039265 NA 0.029 NA 5.4109036 1119 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 1119 3 33174168 33174168 G A exonic CRTAP NA synonymous SNV CRTAP:NM_006371:exon5:c.G1044A:p.S348S exonic ENSG00000170275 NA synonymous SNV ENSG00000170275:ENST00000449224:exon4:c.G915A:p.S305S,ENSG00000170275:ENST00000320954:exon5:c.G1044A:p.S348S NA NA 3p22.3 NA NA Name=3 NA rs1135128 0.28 0.28 0.28 0.29353 0.4354 0.1548 0.268 0.2451 0.3742 0.42 0.11 0.33 0.24 0.3751 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436507 NA NA 0.445349 0.265093 NA 0.268 NA 5.4108176 1119 11 1096494 1096494 T C exonic MUC2 NA synonymous SNV MUC2:NM_002457:exon35:c.T6507C:p.C2169C exonic ENSG00000198788 NA synonymous SNV ENSG00000198788:ENST00000361558:exon5:c.T933C:p.C311C,ENSG00000198788:ENST00000441003:exon34:c.T6519C:p.C2173C Score=389;Name=lod=51 NA 11p15.5 NA NA NA NA rs6421972 0.8 0.8 0.801 NA NA NA NA NA NA 0.59 0.99 0.72 0.93 0.6719 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 1.085885 NA NA 0.585151 0.878261 NA 0.754 NA 5.4096156 1119 19 58038964 58038964 T A exonic ZNF549 NA nonsynonymous SNV ZNF549:NM_001199295:exon1:c.T23A:p.I8N,ZNF549:NM_153263:exon1:c.T23A:p.I8N exonic ENSG00000121406 NA nonsynonymous SNV ENSG00000121406:ENST00000240719:exon1:c.T23A:p.I8N,ENSG00000121406:ENST00000376233:exon1:c.T23A:p.I8N,ENSG00000121406:ENST00000594943:exon1:c.T23A:p.I8N,ENSG00000121406:ENST00000602149:exon1:c.T23A:p.I8N NA NA 19q13.43 NA Name=Pol2-4H8,E2F6_(H-50),Pol2,HA-E2F1 NA NA rs12461014 0.99 0.99 0.989 0.989617 0.9702 1 0.9755 1 0.9949 0.97 1 0.98 1 0.981 1 0.5 T 0.0 B 0.0 B . . 1.000 P 0.895 L 3.39 T -1.032 T 0.000 T 0.1 -0.802 0.67 0.703 -0.195 0.436 1.646 -0.802155 NA 0.45 0.972791 0.994326 NA 0.986 NA 5.4093424 1119 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 1119 3 123457893 123457893 G A exonic MYLK NA nonsynonymous SNV MYLK:NM_053025:exon7:c.C439T:p.P147S,MYLK:NM_053026:exon7:c.C439T:p.P147S,MYLK:NM_053027:exon7:c.C439T:p.P147S,MYLK:NM_053028:exon7:c.C439T:p.P147S exonic ENSG00000065534 NA nonsynonymous SNV ENSG00000065534:ENST00000475616:exon4:c.C439T:p.P147S,ENSG00000065534:ENST00000346322:exon7:c.C439T:p.P147S,ENSG00000065534:ENST00000359169:exon7:c.C439T:p.P147S,ENSG00000065534:ENST00000360304:exon7:c.C439T:p.P147S,ENSG00000065534:ENST00000360772:exon8:c.C439T:p.P147S NA NA 3q21.1 NA NA NA NA rs9840993 0.88 0.88 0.859 0.85623 0.9871 0.9435 0.9524 0.5998 0.91 0.99 0.95 0.95 0.59 0.9445 0.99 0.35 T 0.291 B 0.111 B . . 0.000 P 0.805 L -0.33 T -0.986 T 0.000 T 0.019 1.062 9.338 1.3 -0.067 2.801 11.430 1.062219 NA 0.28 0.992907 0.637313 NA 0.87 NA 5.4088264 1119 15 33872177 33872177 C T exonic RYR3 NA synonymous SNV RYR3:NM_001036:exon13:c.C1269T:p.S423S,RYR3:NM_001243996:exon13:c.C1269T:p.S423S exonic ENSG00000198838 NA synonymous SNV ENSG00000198838:ENST00000389232:exon13:c.C1269T:p.S423S,ENSG00000198838:ENST00000415757:exon13:c.C1269T:p.S423S Score=414;Name=lod=64 NA 15q14 Score=840;Name=V$FREAC2_01 NA NA NA rs674155 0.63 0.63 0.637 0.604233 0.7674 0.5437 0.7637 0.3994 0.6626 0.76 0.51 0.75 0.46 0.7143 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 1.882511 1.882511 NA 0.776319 0.4915 NA 0.601 NA 5.4086476 1119 5 82833145 82833145 G A exonic VCAN NA synonymous SNV VCAN:NM_001164097:exon7:c.G1362A:p.Q454Q,VCAN:NM_004385:exon8:c.G4323A:p.Q1441Q exonic ENSG00000038427 NA synonymous SNV ENSG00000038427:ENST00000343200:exon7:c.G1362A:p.Q454Q,ENSG00000038427:ENST00000513960:exon7:c.G1362A:p.Q454Q,ENSG00000038427:ENST00000265077:exon8:c.G4323A:p.Q1441Q Score=492;Name=lod=133 NA 5q14.3 NA NA NA NA rs2548541 0.68 0.68 0.69 NA NA NA NA NA NA 0.65 0.64 0.67 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 0.81335 NA NA 0.610233 0.792783 NA 0.609 NA 5.4086336 1119 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 1119 15 42631928 42631928 T C exonic GANC NA synonymous SNV GANC:NM_198141:exon17:c.T1905C:p.A635A exonic ENSG00000214013 NA synonymous SNV ENSG00000214013:ENST00000318010:exon17:c.T1905C:p.A635A NA NA 15q15.1 NA NA NA NA rs36023127 0.07 0.07 0.064 0.0944489 0.0845 0.002 0.062 0.1399 0.1616 0.08 0.0035 0.08 0.11 0.0932 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791515 NA NA 0.080833 0.139582 ID=COSM54399;OCCURENCE=1(central_nervous_system) 0.051 NA 5.4081336 1119 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 1119 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 1119 1 223905532 223905532 G A exonic CAPN2 NA synonymous SNV CAPN2:NM_001146068:exon2:c.G72A:p.L24L,CAPN2:NM_001748:exon2:c.G306A:p.L102L exonic ENSG00000162909 NA synonymous SNV ENSG00000162909:ENST00000295006:exon2:c.G306A:p.L102L,ENSG00000162909:ENST00000433674:exon2:c.G72A:p.L24L,ENSG00000162909:ENST00000434648:exon2:c.G72A:p.L24L Score=558;Name=lod=247 NA 1q41 Score=883;Name=V$NCX_01 NA NA NA rs17596 0.63 0.63 0.602 0.595447 0.7634 0.5823 0.6354 0.351 0.7382 0.77 0.6 0.68 0.39 0.7173 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 2.417642 2.417642 NA 0.77814 0.436904 ID=COSM146789;OCCURENCE=1(stomach) 0.529 NA 5.4078266 1119 6 15513482 15513482 G A exonic JARID2 NA synonymous SNV JARID2:NM_001267040:exon16:c.G2763A:p.L921L,JARID2:NM_004973:exon16:c.G3279A:p.L1093L exonic ENSG00000008083 NA synonymous SNV ENSG00000008083:ENST00000341776:exon16:c.G3279A:p.L1093L,ENSG00000008083:ENST00000397311:exon16:c.G2763A:p.L921L Score=550;Name=lod=230 NA 6p22.3 NA Name=Pol2-4H8 NA NA rs2235258 0.62 0.62 0.61 0.584864 0.7465 0.6667 0.6513 0.3003 0.6718 0.75 0.66 0.67 0.31 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 1.076003 NA NA 0.768844 0.382501 ID=COSM450779;OCCURENCE=1(breast) 0.587 NA 5.4072226 1119 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 1119 1 17557133 17557133 A C exonic PADI1 NA synonymous SNV PADI1:NM_013358:exon10:c.A1120C:p.R374R exonic ENSG00000142623 NA synonymous SNV ENSG00000142623:ENST00000375471:exon10:c.A1120C:p.R374R Score=503;Name=lod=148 NA 1p36.13 NA NA NA NA rs3003406 0.39 0.39 0.324 0.407947 0.4254 0.372 0.3199 0.4024 0.4969 0.42 0.36 0.32 0.42 0.4193 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.485251 1.485251 NA 0.416047 0.405583 ID=COSM146420;OCCURENCE=1(stomach) 0.42 NA 5.4059196 1119 7 6063283 6063283 C T exonic AIMP2 NA synonymous SNV AIMP2:NM_006303:exon4:c.C924T:p.N308N exonic ENSG00000106305 NA synonymous SNV ENSG00000106305:ENST00000395236:exon3:c.C717T:p.N239N,ENSG00000106305:ENST00000223029:exon4:c.C924T:p.N308N,ENSG00000106305:ENST00000400479:exon5:c.C690T:p.N230N Score=462;Name=lod=101 NA 7p22.1 NA NA NA NA rs4560 0.38 0.38 0.381 0.327875 0.4563 0.369 0.3977 0.1611 0.3292 0.46 0.4 0.4 0.2 0.3746 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.118146 NA 0.03 0.430116 0.191557 NA 0.246 NA 5.4056506 1119 16 72130203 72130203 C G exonic DHX38 NA synonymous SNV DHX38:NM_014003:exon2:c.C147G:p.L49L exonic ENSG00000140829 NA synonymous SNV ENSG00000140829:ENST00000268482:exon2:c.C147G:p.L49L,ENSG00000140829:ENST00000536867:exon2:c.C147G:p.L49L,ENSG00000140829:ENST00000566794:exon2:c.C147G:p.L49L,ENSG00000140829:ENST00000579387:exon2:c.C147G:p.L49L,ENSG00000140829:ENST00000566489:exon3:c.C147G:p.L49L Score=563;Name=lod=259 NA 16q22.2 NA NA NA NA rs1050361 0.47 0.47 0.494 0.513179 0.3986 0.3542 0.3588 0.8094 0.5041 0.39 0.37 0.38 0.79 0.4362 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 0.219425 NA NA 0.426512 0.726342 ID=COSM148114;OCCURENCE=1(stomach) 0.522 NA 5.4053546 1119 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 1119 1 47395973 47395973 G A exonic CYP4A11 NA synonymous SNV CYP4A11:NM_000778:exon12:c.C1374T:p.I458I exonic ENSG00000187048 NA synonymous SNV ENSG00000187048:ENST00000310638:exon12:c.C1374T:p.I458I,ENSG00000187048:ENST00000371904:exon12:c.C1377T:p.I459I Score=528;Name=lod=186 NA 1p33 Score=930;Name=V$IK2_01 NA NA NA rs1126743 0.59 0.59 0.567 0.571486 0.7773 0.495 0.683 0.3449 0.6656 0.78 0.49 0.7 0.33 0.7032 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 0.965227 NA NA 0.781163 0.424194 NA 0.58 NA 5.4050036 1120 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 1120 19 7184518 7184518 G A exonic INSR NA synonymous SNV INSR:NM_000208:exon3:c.C783T:p.D261D,INSR:NM_001079817:exon3:c.C783T:p.D261D exonic ENSG00000171105 NA synonymous SNV ENSG00000171105:ENST00000302850:exon3:c.C783T:p.D261D,ENSG00000171105:ENST00000341500:exon3:c.C783T:p.D261D NA NA 19p13.2 NA NA NA NA rs891087 0.1 0.1 0.095 0.138578 0.0726 0.0486 0.085 0.2262 0.2188 0.07 0.05 0.08 0.24 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 1.02099 NA NA 0.08686 0.200862 NA 0.094 NA 5.4043066 1120 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 1120 8 27394366 27394366 C T exonic EPHX2 NA synonymous SNV EPHX2:NM_001256483:exon12:c.C1038T:p.S346S,EPHX2:NM_001256482:exon13:c.C1077T:p.S359S,EPHX2:NM_001256484:exon13:c.C1077T:p.S359S,EPHX2:NM_001979:exon13:c.C1236T:p.S412S exonic ENSG00000120915 NA synonymous SNV ENSG00000120915:ENST00000517536:exon9:c.C687T:p.S229S,ENSG00000120915:ENST00000518379:exon12:c.C1140T:p.S380S,ENSG00000120915:ENST00000521780:exon12:c.C1038T:p.S346S,ENSG00000120915:ENST00000380476:exon13:c.C1077T:p.S359S,ENSG00000120915:ENST00000521400:exon13:c.C1236T:p.S412S NA NA 8p21.2 NA NA NA NA rs13439459 0.07 0.07 0.065 0.0626997 0.0845 0.001 0.0807 0.084 0.0624 0.09 0.0017 0.08 0.11 0.0767 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 -1.146904 NA NA 0.101628 0.08148 NA 0.101 NA 5.4038386 1120 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 1120 10 116073696 116073696 C T exonic AFAP1L2 NA synonymous SNV AFAP1L2:NM_001001936:exon7:c.G726A:p.T242T,AFAP1L2:NM_032550:exon7:c.G726A:p.T242T exonic ENSG00000169129 NA synonymous SNV ENSG00000169129:ENST00000304129:exon7:c.G726A:p.T242T,ENSG00000169129:ENST00000369271:exon7:c.G726A:p.T242T,ENSG00000169129:ENST00000419268:exon8:c.G780A:p.T260T,ENSG00000169129:ENST00000545353:exon8:c.G885A:p.T295T Score=557;Name=lod=245 NA 10q25.3 Score=725;Name=V$PAX4_04 NA NA NA rs3813722 0.64 0.64 0.585 0.584864 0.7614 0.8929 0.8084 0.09 0.5961 0.76 0.87 0.79 0.1 0.7249 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 0.768087 NA NA 0.778256 0.192465 NA 0.594 NA 5.4021106 1120 19 19049198 19049198 G A exonic HOMER3 NA synonymous SNV HOMER3:NM_001145724:exon3:c.C267T:p.Y89Y,HOMER3:NM_001145721:exon4:c.C267T:p.Y89Y,HOMER3:NM_001145722:exon4:c.C267T:p.Y89Y,HOMER3:NM_004838:exon4:c.C267T:p.Y89Y exonic ENSG00000051128 NA synonymous SNV ENSG00000051128:ENST00000221222:exon3:c.C267T:p.Y89Y,ENSG00000051128:ENST00000539827:exon3:c.C267T:p.Y89Y,ENSG00000051128:ENST00000594439:exon3:c.C267T:p.Y89Y,ENSG00000051128:ENST00000355887:exon4:c.C267T:p.Y89Y,ENSG00000051128:ENST00000392351:exon4:c.C267T:p.Y89Y,ENSG00000051128:ENST00000433218:exon4:c.C267T:p.Y89Y,ENSG00000051128:ENST00000542541:exon4:c.C267T:p.Y89Y,ENSG00000051128:ENST00000596482:exon4:c.C267T:p.Y89Y,ENSG00000051128:ENST00000600077:exon5:c.C267T:p.Y89Y Score=383;Name=lod=48 NA 19p13.11 NA NA NA NA rs1064351 0.31 0.31 0.273 0.280551 0.4423 0.1736 0.5231 0.1051 0.2894 0.44 0.2 0.48 0.12 0.3857 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208941 NA NA 0.436628 0.149115 NA 0.283 NA 5.4020386 1120 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 1120 11 8486310 8486310 C A exonic STK33 NA synonymous SNV STK33:NM_030906:exon5:c.G399T:p.A133A exonic ENSG00000130413 NA synonymous SNV ENSG00000130413:ENST00000447869:exon3:c.G399T:p.A133A,ENSG00000130413:ENST00000396672:exon4:c.G399T:p.A133A,ENSG00000130413:ENST00000418597:exon4:c.G276T:p.A92A,ENSG00000130413:ENST00000457885:exon4:c.G399T:p.A133A,ENSG00000130413:ENST00000315204:exon5:c.G399T:p.A133A,ENSG00000130413:ENST00000396673:exon5:c.G399T:p.A133A,ENSG00000130413:ENST00000422559:exon5:c.G276T:p.A92A,ENSG00000130413:ENST00000534493:exon5:c.G276T:p.A92A Score=449;Name=lod=89 NA 11p15.4 NA NA NA NA rs1446464 0.42 0.42 0.391 0.445088 0.4245 0.4871 0.3703 0.3411 0.6166 0.42 0.49 0.42 0.35 0.4309 0.49 NA NA 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 0.409451 0.329169 ID=COSM147138;OCCURENCE=1(stomach),1(prostate) 0.399 NA 5.4018156 1120 11 619789 619789 T G exonic CDHR5 NA nonsynonymous SNV CDHR5:NM_001171968:exon10:c.A1071C:p.R357S,CDHR5:NM_021924:exon10:c.A1071C:p.R357S,CDHR5:NM_031264:exon10:c.A1071C:p.R357S exonic ENSG00000099834 NA nonsynonymous SNV ENSG00000099834:ENST00000349570:exon10:c.A1071C:p.R357S,ENSG00000099834:ENST00000397542:exon10:c.A1071C:p.R357S,ENSG00000099834:ENST00000358353:exon11:c.A1071C:p.R357S NA NA 11p15.5 NA NA NA NA rs2246614 0.6 0.6 0.576 0.610024 0.6581 0.7292 0.5389 0.4516 0.7025 0.66 0.73 0.54 0.42 0.6501 0.73 1 T 0.0 B 0.0 B . . 1.000 P -1.04 N 2.54 T -0.980 T 0.000 T 0.017 -1.539 0.016 1.96 -0.022 0.258 2.603 -1.539153 NA 1 0.623487 0.448362 NA 0.551 NA 5.4016464 1120 17 79511135 79511135 A G exonic C17orf70 NA synonymous SNV C17orf70:NM_025161:exon7:c.T2322C:p.T774T exonic ENSG00000185504 NA synonymous SNV ENSG00000185504:ENST00000425898:exon3:c.T1269C:p.T423T,ENSG00000185504:ENST00000327787:exon7:c.T2322C:p.T774T,ENSG00000185504:ENST00000537152:exon7:c.T1869C:p.T623T NA NA 17q25.3 Score=780;Name=V$ER_Q6 Name=Pol2 NA NA rs8077430 0.7 0.7 0.625 0.704473 0.7406 0.7371 0.8156 0.5212 0.8027 0.74 0.73 0.78 0.52 0.7571 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 -0.388747 NA NA 0.767334 0.56 ID=COSM1178450;OCCURENCE=1(prostate) 0.667 NA 5.4016326 1120 22 17446991 17446991 C T exonic GAB4 NA synonymous SNV GAB4:NM_001037814:exon6:c.G1287A:p.K429K exonic ENSG00000215568 NA synonymous SNV ENSG00000215568:ENST00000400588:exon6:c.G1287A:p.K429K Score=542;Name=lod=212 NA 22q11.1 Score=782;Name=V$PAX5_02 NA NA NA rs4819925 0.81 0.81 0.817 0.82528 0.7396 0.8353 0.8444 0.9773 0.684 0.72 0.81 0.8 0.97 0.7719 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 -0.250103 NA NA 0.753687 0.944308 ID=COSM444658;OCCURENCE=1(breast) 0.87 NA 5.4014796 1120 12 38715000 38715000 A G exonic ALG10B NA synonymous SNV ALG10B:NM_001013620:exon3:c.A1407G:p.Q469Q exonic ENSG00000175548 NA synonymous SNV ENSG00000175548:ENST00000308742:exon3:c.A1407G:p.Q469Q Score=473;Name=lod=112 NA 12q12 NA NA NA NA rs35518352 0.27 0.27 0.233 0.251398 0.4513 0.1429 0.2867 0.1377 0.2863 0.45 0.15 0.28 0.13 0.3629 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305424 NA NA 0.451129 0.162579 ID=COSM1361301;OCCURENCE=1(large_intestine) 0.254 NA 5.4013376 1120 17 3119397 3119397 G T exonic OR1A1 NA synonymous SNV OR1A1:NM_014565:exon1:c.G483T:p.L161L exonic ENSG00000172146 NA synonymous SNV ENSG00000172146:ENST00000304094:exon1:c.G483T:p.L161L NA NA 17p13.3 NA NA NA NA rs769425 0.12 0.12 0.117 0.135783 0.0885 0.0119 0.1614 0.2368 0.1575 0.1 0.01 0.18 0.25 0.0991 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.552531 NA NA 0.077907 0.18906 NA 0.225 NA 5.4011596 1120 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 1120 6 146207563 146207563 A G ncRNA_exonic LOC100507557 NA NA NA ncRNA_exonic ENSG00000235652 NA NA NA NA NA 6q24.3 NA Name=GATA3_(SC-268) Name=54 NA rs1062067 0.34 0.34 0.359 0.349641 0.4076 0.3065 0.2406 0.2685 0.5215 0.41 0.34 0.26 0.29 0.4445 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.203258 NA NA 0.414881 0.269766 NA 0.319 NA 5.3996856 1120 12 39087609 39087609 G A exonic CPNE8 NA synonymous SNV CPNE8:NM_153634:exon15:c.C993T:p.Y331Y exonic ENSG00000139117 NA synonymous SNV ENSG00000139117:ENST00000331366:exon15:c.C993T:p.Y331Y,ENSG00000139117:ENST00000360449:exon15:c.C957T:p.Y319Y Score=584;Name=lod=314 NA 12q12 NA NA NA NA rs3759139 0.28 0.28 0.25 0.26238 0.4493 0.2331 0.2997 0.0477 0.364 0.44 0.23 0.31 0.06 0.3697 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.753675 NA NA 0.448256 0.102133 ID=COSM147470;OCCURENCE=1(stomach) 0.275 NA 5.3994106 1120 13 46067593 46067593 G A exonic COG3 NA synonymous SNV COG3:NM_031431:exon12:c.G1299A:p.E433E exonic ENSG00000136152 NA synonymous SNV ENSG00000136152:ENST00000349995:exon12:c.G1299A:p.E433E Score=606;Name=lod=386 NA 13q14.13 NA NA NA NA rs2985959 0.38 0.38 0.354 0.360423 0.4175 0.495 0.3818 0.1551 0.4254 0.4 0.51 0.39 0.2 0.4091 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.942749 NA NA 0.441512 0.226055 ID=COSM147683;OCCURENCE=1(stomach) 0.348 NA 5.3985546 1120 17 2884545 2884545 A G intronic RAP1GAP2 NA NA NA intronic ENSG00000132359 NA NA NA Score=556;Name=lod=242 NA 17p13.3 Score=752;Name=V$ROAZ_01 NA NA NA rs7208690 0.22 0.22 0.238 0.221845 0.2008 0.2133 0.1527 0.3631 0.1104 0.19 0.18 0.15 0.37 0.2188 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.103166 2.103166 NA 0.182126 0.337179 NA 0.246 NA 5.398274 1120 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 1120 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 1120 6 24437445 24437445 G A exonic GPLD1 NA nonsynonymous SNV GPLD1:NM_001503:exon21:c.C2093T:p.T698I exonic ENSG00000112293 NA nonsynonymous SNV ENSG00000112293:ENST00000230036:exon21:c.C2093T:p.T698I NA NA 6p22.3 NA NA NA NA rs1772256 0.93 0.93 0.921 0.928315 0.9901 1 0.9784 0.7474 1 0.99 1 0.97 0.73 0.9673 1 0.4 T 0.022 B 0.024 B 0.682 N 1.000 P 2.175 M -0.67 T -1.078 T 0.120 T 0.054 2.07 12.88 0.563 -0.020 0.321 1.948 2.070442 2.070442 0.29 0.978605 0.787562 NA 0.92 NA 5.3973284 1120 15 58837957 58837957 A G exonic LIPC NA synonymous SNV LIPC:NM_000236:exon5:c.A591G:p.G197G exonic ENSG00000166035 NA synonymous SNV ENSG00000166035:ENST00000433326:exon4:c.A408G:p.G136G,ENSG00000166035:ENST00000299022:exon5:c.A591G:p.G197G,ENSG00000166035:ENST00000414170:exon6:c.A591G:p.G197G,ENSG00000166035:ENST00000356113:exon7:c.A591G:p.G197G NA NA 15q21.3 NA NA NA NA rs6082 0.19 0.19 0.172 0.16893 0.0656 0.4018 0.1801 0.0976 0.1237 0.06 0.46 0.17 0.1 0.1229 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.28797 NA NA 0.081081 0.089872 NA 0.13 NA 5.3970856 1120 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 1120 14 105070791 105070791 G T exonic TMEM179 NA synonymous SNV TMEM179:NM_207379:exon1:c.C288A:p.L96L exonic ENSG00000258986 NA synonymous SNV ENSG00000258986:ENST00000341595:exon1:c.C288A:p.L96L,ENSG00000258986:ENST00000415614:exon1:c.C288A:p.L96L,ENSG00000258986:ENST00000556573:exon1:c.C288A:p.L96L Score=719;Name=lod=1114 NA 14q32.33 Score=828;Name=V$CEBP_C NA NA NA rs3803313 0.61 0.61 0.638 0.609824 0.7664 0.3661 0.5303 0.6884 0.6503 0.75 0.38 0.61 0.67 0.7232 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 1.437954 1.437954 NA 0.780099 0.704885 ID=COSM1562728;OCCURENCE=1(large_intestine) 0.601 NA 5.3969676 1120 1 101704532 101704532 G T UTR5 S1PR1 NM_001400:c.-9G>T NA NA UTR5 ENSG00000170989 ENST00000305352:c.-9G>T NA NA NA NA 1p21.2 NA Name=Znf143_(16618-1-AP),CTCF_(C-20),Pol2(b),CTCF_(SC-5916),EBF1_(C-8),KAP1,ZNF263,ELF1_(SC-631),BCLAF1_(M33-P5B11),JunD,SMC3_(ab9263),YY1_(C-20),Rad21,RXRA,HDAC2_(SC-6296),PAX5-C20,CTCF Name=145 NA rs3737577 0.19 0.19 0.148 0.146366 0.338 0.13 0.1729 0.0151 0.1247 0.32 0.12 0.21 0.03 0.2703 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.585439 NA NA 0.32814 0.072174 NA 0.196 NA 5.3968934 1120 13 33232435 33232435 A G exonic PDS5B NA synonymous SNV PDS5B:NM_015032:exon4:c.A372G:p.Q124Q exonic ENSG00000083642 NA synonymous SNV ENSG00000083642:ENST00000315596:exon4:c.A372G:p.Q124Q,ENSG00000083642:ENST00000450460:exon4:c.A372G:p.Q124Q Score=651;Name=lod=588 NA 13q13.1 NA NA NA NA rs2301393 0.31 0.31 0.285 0.271366 0.4702 0.1389 0.3559 0.2337 0.1943 0.47 0.15 0.4 0.21 0.3724 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.996077 NA NA 0.427745 0.271031 NA 0.362 NA 5.3963216 1120 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 1120 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 1120 1 100818464 100818464 T C UTR5 CDC14A NM_003672:c.-47T>C,NM_033312:c.-47T>C,NM_033313:c.-47T>C NA NA UTR5 ENSG00000079335 ENST00000370125:c.-47T>C,ENST00000361544:c.-47T>C,ENST00000370124:c.-47T>C,ENST00000336454:c.-47T>C NA NA Score=448;Name=lod=88 NA 1p21.2 Score=961;Name=V$AP4_Q6 Name=YY1,AP-2alpha,ZBTB7A_(SC-34508),GABP,AP-2gamma,Egr-1,HA-E2F1,Pol2,YY1_(C-20) Name=27 NA rs594529 0.98 0.98 0.984 0.983427 0.9801 0.9812 0.9712 1 0.9755 0.98 0.98 0.98 1 0.9785 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.454475 NA NA 0.978605 0.995915 NA 0.971 NA 5.3961284 1120 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 1120 1 196682947 196682947 G A exonic CFH NA synonymous SNV CFH:NM_000186:exon10:c.G1419A:p.A473A exonic ENSG00000000971 NA synonymous SNV ENSG00000000971:ENST00000367429:exon10:c.G1419A:p.A473A NA NA 1q31.3 NA NA NA NA rs2274700 0.44 0.44 0.402 0.479034 0.4235 0.4246 0.5389 0.4735 0.5573 0.41 0.42 0.51 0.45 0.4431 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351052 NA NA 0.404302 0.468906 NA 0.449 CLINSIG=other;CLNDBN=Age-related_macular_degeneration_4;CLNREVSTAT=single;CLNACC=RCV000018023.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1853147:610698 5.3957646 1120 19 53014346 53014346 G A exonic ZNF578 NA nonsynonymous SNV ZNF578:NM_001099694:exon6:c.G712A:p.E238K exonic ENSG00000258405 NA nonsynonymous SNV ENSG00000258405:ENST00000601120:exon4:c.G712A:p.E238K,ENSG00000258405:ENST00000421239:exon6:c.G712A:p.E238K NA NA 19q13.41 NA NA NA NA rs161931 0.73 0.73 0.721 0.765176 0.6412 0.6647 0.7997 0.9781 0.684 0.64 0.64 0.75 0.97 0.6781 0.97 . . 0.0 B 0.0 B . . 1.000 P -2.075 N . . -1.028 T 0.000 T 0.063 -1.559 0.015 1.48 -0.092 0.238 5.584 -1.55924 NA NA 0.618283 0.929414 NA 0.71 NA 5.3957504 1120 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-Jun,STAT3,c-Fos 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 1120 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 1121 2 231072709 231072709 C T exonic SP110 NA nonsynonymous SNV SP110:NM_004509:exon8:c.G895A:p.G299R,SP110:NM_004510:exon8:c.G895A:p.G299R,SP110:NM_080424:exon8:c.G895A:p.G299R,SP110:NM_001185015:exon9:c.G913A:p.G305R exonic ENSG00000135899 NA nonsynonymous SNV ENSG00000135899:ENST00000258381:exon8:c.G895A:p.G299R,ENSG00000135899:ENST00000258382:exon8:c.G895A:p.G299R,ENSG00000135899:ENST00000338556:exon8:c.G151A:p.G51R,ENSG00000135899:ENST00000358662:exon8:c.G895A:p.G299R,ENSG00000135899:ENST00000392048:exon8:c.G895A:p.G299R,ENSG00000135899:ENST00000540870:exon9:c.G913A:p.G305R NA NA 2q37.1 NA NA NA NA rs1365776 0.79 0.79 0.786 0.802516 0.6262 0.8978 0.7839 0.9592 0.6871 0.62 0.9 0.77 0.93 0.7087 0.93 0.46 T 0.0 B 0.001 B 0.327 N 1.000 P -0.345 N 2.45 T -0.995 T 0.000 T 0.146 -0.189 3.079 -0.142 -0.289 -0.226 4.017 -0.189485 NA 0.16 0.603444 0.895275 NA 0.775 NA 5.3949894 1121 1 161200586 161200586 T G intronic NR1I3 NA NA NA exonic ENSG00000143257 NA synonymous SNV ENSG00000143257:ENST00000506209:exon7:c.A847C:p.R283R NA NA 1q23.3 NA NA NA NA rs2307418 0.09 0.09 0.077 0.0826677 0.1491 0.0923 0.0836 0.0068 0.1063 0.13 0.09 0.11 0.01 0.1322 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027439 NA NA 0.157209 0.029051 NA 0.196 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081272.1;CLNDSDB=.;CLNDSDBID=. 5.3948243 1121 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 1121 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 1121 16 69963355 69963355 G A exonic WWP2 NA synonymous SNV WWP2:NM_001270453:exon9:c.G891A:p.K297K,WWP2:NM_001270454:exon12:c.G1239A:p.K413K,WWP2:NM_007014:exon13:c.G1239A:p.K413K exonic ENSG00000198373 NA synonymous SNV ENSG00000198373:ENST00000542271:exon9:c.G891A:p.K297K,ENSG00000198373:ENST00000356003:exon11:c.G1239A:p.K413K,ENSG00000198373:ENST00000359154:exon12:c.G1239A:p.K413K,ENSG00000198373:ENST00000448661:exon12:c.G1239A:p.K413K Score=581;Name=lod=305 NA 16q22.1 Score=738;Name=V$PPARA_01 NA NA NA rs1566452 0.85 0.85 0.854 0.855032 0.7535 0.9683 0.7493 0.9455 0.7955 0.74 0.97 0.79 0.92 0.7777 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 0.915526 NA NA 0.741395 0.894677 NA 0.783 NA 5.3940716 1121 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=SIX5,SP1,IRF1,ZNF263,ZBTB7A_(SC-34508),CCNT2,TBP,Pol2,USF-1,ELF1_(SC-631),HEY1,Pol2-4H8,TAF1 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 1121 8 145223288 145223288 C T exonic MROH1 NA nonsynonymous SNV MROH1:NM_001099281:exon3:c.C113T:p.A38V,MROH1:NM_001099280:exon4:c.C113T:p.A38V,MROH1:NM_032450:exon4:c.C113T:p.A38V exonic ENSG00000179832 NA nonsynonymous SNV ENSG00000179832:ENST00000326134:exon2:c.C113T:p.A38V,ENSG00000179832:ENST00000398656:exon3:c.C113T:p.A38V,ENSG00000179832:ENST00000423230:exon3:c.C113T:p.A38V,ENSG00000179832:ENST00000528919:exon3:c.C113T:p.A38V,ENSG00000179832:ENST00000534366:exon3:c.C113T:p.A38V NA NA 8q24.3 Score=812;Name=V$OLF1_01 NA NA NA rs34819224 0.83 0.83 0.817 0.805711 0.997 1 0.9366 0.2995 1 1 1 0.92 0.31 0.9464 1 0.31 T 0.003 B 0.004 B 0.677 N 1.000 P 1.5 L -0.16 T -0.960 T 0.000 T 0.065 -0.146 3.286 1.35 -0.165 0.125 11.546 -0.145935 NA 0.3 0.996464 0.449486 NA 0.783 NA 5.3934694 1121 1 207782916 207782916 A T exonic CR1 NA nonsynonymous SNV CR1:NM_000573:exon29:c.A4828T:p.T1610S,CR1:NM_000651:exon37:c.A6178T:p.T2060S exonic ENSG00000203710 NA nonsynonymous SNV ENSG00000203710:ENST00000367051:exon29:c.A4828T:p.T1610S,ENSG00000203710:ENST00000367052:exon29:c.A4828T:p.T1610S,ENSG00000203710:ENST00000367053:exon29:c.A4828T:p.T1610S,ENSG00000203710:ENST00000400960:exon29:c.A4828T:p.T1610S,ENSG00000203710:ENST00000367049:exon37:c.A6178T:p.T2060S NA NA 1q32.2 NA NA NA NA rs4844609 0.99 0.99 0.989 0.995008 0.9801 1 0.9942 1 0.999 0.98 1 0.99 1 0.9853 1 1 T 0.003 B 0.005 B . . 1.000 P . . -0.01 T -0.947 T 0.000 T 0.008 -1.211 0.067 2.54 0.394 -0.535 4.924 -1.211354 NA 1 0.974903 0.995827 NA 0.949 NA 5.3930304 1121 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 1121 16 81095099 81095099 C G exonic C16orf46 NA synonymous SNV C16orf46:NM_001100873:exon3:c.G855C:p.A285A,C16orf46:NM_152337:exon4:c.G855C:p.A285A exonic ENSG00000166455 NA synonymous SNV ENSG00000166455:ENST00000378611:exon3:c.G855C:p.A285A,ENSG00000166455:ENST00000299578:exon4:c.G855C:p.A285A NA NA 16q23.2 NA NA NA NA rs2287995 0.11 0.11 0.091 0.108027 0.0934 0.1944 0.1066 0.0514 0.1115 0.1 0.19 0.1 0.06 0.1034 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 -1.260686 NA NA 0.076977 0.048819 NA 0.022 NA 5.3928896 1121 5 138456815 138456815 T C exonic SIL1 NA synonymous SNV SIL1:NM_022464:exon3:c.A153G:p.T51T,SIL1:NM_001037633:exon4:c.A153G:p.T51T exonic ENSG00000120725 NA synonymous SNV ENSG00000120725:ENST00000394817:exon3:c.A153G:p.T51T,ENSG00000120725:ENST00000505353:exon3:c.A153G:p.T51T,ENSG00000120725:ENST00000513453:exon3:c.A153G:p.T51T,ENSG00000120725:ENST00000265195:exon4:c.A153G:p.T51T,ENSG00000120725:ENST00000505830:exon4:c.A183G:p.T61T,ENSG00000120725:ENST00000508639:exon4:c.A153G:p.T51T,ENSG00000120725:ENST00000509534:exon4:c.A174G:p.T58T,ENSG00000120725:ENST00000507002:exon5:c.A183G:p.T61T NA NA 5q31.2 NA NA NA NA rs3088052 0.43 0.43 0.439 0.426917 0.4076 0.1815 0.4366 0.6861 0.3425 0.42 0.19 0.46 0.7 0.4354 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 0.417199 NA NA 0.430814 0.677031 NA 0.457 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082151.3;CLNDSDB=.;CLNDSDBID=. 5.3928526 1121 21 28216692 28216692 G T exonic ADAMTS1 NA synonymous SNV ADAMTS1:NM_006988:exon1:c.C582A:p.V194V exonic ENSG00000154734 NA synonymous SNV ENSG00000154734:ENST00000284984:exon1:c.C582A:p.V194V NA NA 21q21.3 NA Name=AP-2alpha,AP-2gamma,E2F6,USF1_(SC-8983),Pol2 Name=81 NA rs445784 0.65 0.65 0.732 0.678115 0.7376 0.4484 0.4885 0.8911 0.7004 0.74 0.43 0.51 0.88 0.7327 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 -0.270522 NA NA 0.803593 0.885749 NA 0.543 NA 5.3927736 1121 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 1121 6 32154998 32154998 C T intronic PBX2 NA NA NA intronic ENSG00000204304 NA NA NA NA NA 6p21.32 NA Name=ELF1_(SC-631),PU.1 Name=17 NA rs204994 0.19 0.19 0.194 0.20028 0.2018 0.127 0.1556 0.261 0.2239 0.2 0.14 0.16 0.26 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 0.700933 NA NA 0.225258 0.239073 NA 0.203 NA 5.392242 1121 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 1121 5 54403957 54403957 T C exonic GZMA NA nonsynonymous SNV GZMA:NM_006144:exon4:c.T362C:p.M121T exonic ENSG00000145649 NA nonsynonymous SNV ENSG00000145649:ENST00000274306:exon4:c.T362C:p.M121T NA NA 5q11.2 NA NA NA NA rs3104233 0.98 0.98 0.98 0.98123 0.9761 1 0.9899 0.9531 0.999 0.97 1 0.99 0.96 0.9835 1 0.37 T 0.0 B 0.0 B 0.492 N 1.000 P -0.86 N -2.3 D -0.994 T 0.000 T 0.18 -0.154 3.249 -0.872 -0.302 0.556 1.653 -0.15377 NA 0.69 0.982674 0.942351 NA 0.993 NA 5.3910594 1121 6 30154199 30154199 T C exonic TRIM26 NA synonymous SNV TRIM26:NM_001242783:exon9:c.A1074G:p.L358L,TRIM26:NM_003449:exon10:c.A1074G:p.L358L exonic ENSG00000234127 NA synonymous SNV ENSG00000234127:ENST00000437089:exon9:c.A1074G:p.L358L,ENSG00000234127:ENST00000453195:exon9:c.A1074G:p.L358L,ENSG00000234127:ENST00000454678:exon10:c.A1074G:p.L358L Score=507;Name=lod=154 NA 6p22.1 NA NA NA NA rs2074473 0.4 0.4 0.387 0.381589 0.4334 0.2837 0.4827 0.4788 0.226 0.42 0.28 0.41 0.51 0.4008 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.500545 NA NA 0.441676 0.43543 NA 0.42 NA 5.3907906 1121 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 1121 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 1121 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 1121 1 22033228 22033228 G A intronic USP48 NA NA NA intronic ENSG00000090686 NA NA NA NA NA 1p36.12 NA Name=NRSF,Sin3Ak-20,c-Myc,USF-1,Max,USF2,EBF1_(C-8),EBF Name=77 NA rs56167338 0.1 0.1 0.096 0.107029 0.2256 0.0238 0.0908 0.0061 0.2188 0.22 0.02 0.11 0.01 0.1696 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261687 NA NA 0.215814 0.039038 NA 0.043 NA 5.388986 1121 3 19959756 19959756 G A exonic EFHB NA nonsynonymous SNV EFHB:NM_144715:exon4:c.C1145T:p.T382I exonic ENSG00000163576 NA nonsynonymous SNV ENSG00000163576:ENST00000440022:exon3:c.C356T:p.T119I,ENSG00000163576:ENST00000295824:exon4:c.C1145T:p.T382I,ENSG00000163576:ENST00000389256:exon4:c.C1145T:p.T382I,ENSG00000163576:ENST00000344838:exon6:c.C755T:p.T252I NA NA 3p24.3 NA NA NA NA rs2929366 0.58 0.58 0.605 0.613019 0.6491 0.3353 0.5403 0.8275 0.6237 0.66 0.32 0.5 0.82 0.6296 0.82 . . 0.0 B 0.001 B 0.820 N 1.000 P -0.14 N 2.22 T -1.013 T 0.000 T 0.202 -0.063 3.692 1.58 0.058 -0.100 0.582 -0.063261 NA 0.46 0.665698 0.804812 NA 0.681 NA 5.3889354 1121 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 1121 2 86691250 86691250 G A exonic KDM3A NA synonymous SNV KDM3A:NM_001146688:exon9:c.G918A:p.A306A,KDM3A:NM_018433:exon9:c.G918A:p.A306A exonic ENSG00000115548 NA synonymous SNV ENSG00000115548:ENST00000542128:exon7:c.G762A:p.A254A,ENSG00000115548:ENST00000312912:exon9:c.G918A:p.A306A,ENSG00000115548:ENST00000409064:exon9:c.G918A:p.A306A,ENSG00000115548:ENST00000441719:exon9:c.G918A:p.A306A,ENSG00000115548:ENST00000409556:exon10:c.G918A:p.A306A Score=573;Name=lod=285 NA 2p11.2 Score=735;Name=V$MYOGNF1_01 NA NA NA rs12714187 0.85 0.85 0.87 0.804912 0.7594 0.9425 0.7608 0.9297 0.5726 0.78 0.96 0.72 0.93 0.7663 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.419534 1.419534 NA 0.752558 0.897413 NA 0.826 NA 5.3884086 1121 20 36561882 36561882 C T intronic VSTM2L NA NA NA intronic ENSG00000132821 NA NA NA NA NA 20q11.23 Score=970;Name=V$PAX4_03 NA Name=2 NA rs1998049 0.26 0.26 0.23 0.238019 0.3042 0.0913 0.2781 0.236 0.2955 0.34 0.09 0.29 0.3 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 0.705977 NA NA 0.307668 0.222543 NA 0.203 NA 5.388132 1121 7 4959807 4959807 G A exonic MMD2 NA synonymous SNV MMD2:NM_001100600:exon3:c.C285T:p.H95H,MMD2:NM_001270375:exon3:c.C285T:p.H95H,MMD2:NM_198403:exon3:c.C285T:p.H95H exonic ENSG00000136297 NA synonymous SNV ENSG00000136297:ENST00000401401:exon3:c.C285T:p.H95H,ENSG00000136297:ENST00000404774:exon3:c.C285T:p.H95H,ENSG00000136297:ENST00000406755:exon3:c.C285T:p.H95H Score=524;Name=lod=180 NA 7p22.1 NA NA NA NA rs932061 0.45 0.45 0.435 0.441693 0.4085 0.2996 0.5951 0.618 0.2751 0.41 0.29 0.55 0.61 0.4594 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.087757 NA NA 0.410636 0.558024 NA 0.391 NA 5.3881306 1121 X 135480126 135480126 T C exonic GPR112 NA synonymous SNV GPR112:NM_153834:exon20:c.T8271C:p.F2757F exonic ENSG00000156920 NA synonymous SNV ENSG00000156920:ENST00000287534:exon12:c.T7530C:p.F2510F,ENSG00000156920:ENST00000394141:exon17:c.T7656C:p.F2552F,ENSG00000156920:ENST00000412101:exon17:c.T7656C:p.F2552F,ENSG00000156920:ENST00000370652:exon18:c.T8271C:p.F2757F,ENSG00000156920:ENST00000394143:exon20:c.T8271C:p.F2757F Score=383;Name=lod=48 NA Xq26.3 NA NA NA NA rs5974595 0.75 0.75 0.72893 NA NA NA NA NA NA 0.6 0.92 0.77 0.77 0.6719 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 0.9815 NA NA 0.606867 0.780443 NA 0.457 NA 5.3878996 1121 4 88029482 88029482 C G intronic AFF1 NA NA NA intronic ENSG00000172493 NA NA NA NA NA 4q22.1 NA Name=eGFP-JunB,c-Jun,CTCF,p300,GATA-2,Rad21,TCF4 Name=120 NA rs3733377 0.22 0.22 0.186 0.186302 0.1978 0.381 0.2277 0.0749 0.0951 0.19 0.37 0.22 0.08 0.2097 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894001 NA NA 0.204884 0.099637 NA 0.123 NA 5.387616 1121 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 1121 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 1121 8 8869199 8869199 T G exonic ERI1 NA synonymous SNV ERI1:NM_153332:exon3:c.T435G:p.P145P exonic ENSG00000104626 NA synonymous SNV ENSG00000104626:ENST00000250263:exon3:c.T435G:p.P145P,ENSG00000104626:ENST00000519292:exon3:c.T435G:p.P145P,ENSG00000104626:ENST00000523898:exon4:c.T435G:p.P145P Score=640;Name=lod=531 NA 8p23.1 NA NA NA NA rs9650616 0.32 0.32 0.31 0.300919 0.4662 0.003 0.2767 0.4448 0.2607 0.48 0.01 0.34 0.44 0.3624 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.459099 1.459099 NA 0.451047 0.435089 NA 0.37 NA 5.3870196 1121 4 73930552 73930552 G A exonic COX18 NA synonymous SNV COX18:NM_173827:exon4:c.C663T:p.P221P exonic ENSG00000163626 NA synonymous SNV ENSG00000163626:ENST00000295890:exon4:c.C663T:p.P221P,ENSG00000163626:ENST00000507544:exon4:c.C666T:p.P222P NA NA 4q13.3 NA NA Name=15 NA rs3762883 0.34 0.34 0.342 0.341454 0.4563 0.3879 0.2983 0.1891 0.4121 0.45 0.35 0.3 0.18 0.3959 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.572173 NA NA 0.427558 0.239446 NA 0.239 NA 5.3869086 1121 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 1121 21 43164232 43164232 C A exonic RIPK4 NA synonymous SNV RIPK4:NM_020639:exon7:c.G1005T:p.L335L exonic ENSG00000183421 NA synonymous SNV ENSG00000183421:ENST00000332512:exon7:c.G1005T:p.L335L,ENSG00000183421:ENST00000542057:exon7:c.G816T:p.L272L,ENSG00000183421:ENST00000544709:exon7:c.G816T:p.L272L,ENSG00000183421:ENST00000352483:exon8:c.G1149T:p.L383L Score=391;Name=lod=52 NA 21q22.3 NA NA NA NA rs2277789 0.41 0.41 0.362 0.384185 0.4573 0.4772 0.4193 0.233 0.3926 0.46 0.5 0.45 0.23 0.4126 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150941 NA NA 0.41 0.270994 NA 0.297 NA 5.3867666 1121 14 62463214 62463214 C T exonic SYT16 NA synonymous SNV SYT16:NM_031914:exon1:c.C477T:p.D159D exonic ENSG00000139973 NA synonymous SNV ENSG00000139973:ENST00000430451:exon1:c.C477T:p.D159D,ENSG00000139973:ENST00000555409:exon1:c.C477T:p.D159D,ENSG00000139973:ENST00000446982:exon2:c.C477T:p.D159D Score=243;Name=lod=13 NA 14q23.2 NA NA NA NA rs1889806 0.58 0.58 0.562 0.560304 0.4036 0.749 0.5879 0.6195 0.4274 0.4 0.79 0.58 0.6 0.4684 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 -1.0959 NA NA 0.408273 0.562768 NA 0.471 NA 5.3863936 1121 4 169315760 169315760 C A exonic DDX60L NA nonsynonymous SNV DDX60L:NM_001012967:exon28:c.G3666T:p.E1222D exonic ENSG00000181381 NA nonsynonymous SNV ENSG00000181381:ENST00000260184:exon28:c.G3666T:p.E1222D,ENSG00000181381:ENST00000505890:exon28:c.G3669T:p.E1223D,ENSG00000181381:ENST00000511577:exon28:c.G3666T:p.E1222D NA NA 4q32.3 NA NA NA NA rs3749499 0.9 0.9 0.887 0.874002 0.998 0.9018 0.9726 0.6649 0.9305 1 0.89 0.99 0.7 0.9578 1 0.31 T 0.001 B 0.001 B 0.155 N 1.000 P 0.83 L -0.53 T -0.962 T 0.000 T 0.102 0.163 4.877 -2.05 -0.771 -0.332 1.817 0.163093 NA 0.56 0.992077 0.730334 NA 0.855 NA 5.3854564 1121 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 1121 11 67164791 67164791 T C exonic RAD9A NA synonymous SNV RAD9A:NM_001243224:exon7:c.T786C:p.G262G,RAD9A:NM_004584:exon10:c.T1014C:p.G338G exonic ENSG00000172613 NA synonymous SNV ENSG00000172613:ENST00000307980:exon10:c.T1014C:p.G338G NA NA 11q13.2 NA NA NA NA rs872110 0.34 0.34 0.257 0.351438 0.0805 0.2599 0.4063 0.8253 0.045 0.09 0.27 0.32 0.81 0.142 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 -1.863727 NA NA 0.059152 0.602975 NA 0.333 NA 5.3850146 1122 21 37741352 37741352 G A exonic MORC3 NA synonymous SNV MORC3:NM_015358:exon15:c.G1686A:p.Q562Q exonic ENSG00000159256 NA synonymous SNV ENSG00000159256:ENST00000400485:exon15:c.G1686A:p.Q562Q NA NA 21q22.12 NA NA NA NA rs61739936 0.05 0.05 0.051 0.0623003 0.0905 0.0298 0.0749 0.0121 0.1258 0.09 0.03 0.07 0.01 0.0915 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 0.22505 NA NA 0.100049 0.018449 NA 0.036 NA 5.3846176 1122 18 56203447 56203447 A G exonic ALPK2 NA synonymous SNV ALPK2:NM_052947:exon5:c.T3972C:p.H1324H exonic ENSG00000198796 NA synonymous SNV ENSG00000198796:ENST00000361673:exon5:c.T3972C:p.H1324H NA NA 18q21.32 NA Name=MafK_(SC-477),MafF_(M8194),Pol2-4H8,MafK_(ab50322) Name=8 NA rs3809979 0.69 0.69 0.664 0.671725 0.7674 0.7966 0.6772 0.4675 0.7168 0.77 0.81 0.7 0.43 0.7463 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 0.185513 NA NA 0.768372 0.517022 NA 0.645 NA 5.3845946 1122 19 7913974 7913974 T C exonic EVI5L NA synonymous SNV EVI5L:NM_001159944:exon3:c.T495C:p.H165H,EVI5L:NM_145245:exon4:c.T495C:p.H165H exonic ENSG00000142459 NA synonymous SNV ENSG00000142459:ENST00000538904:exon3:c.T495C:p.H165H,ENSG00000142459:ENST00000270530:exon4:c.T495C:p.H165H Score=580;Name=lod=303 NA 19p13.2 NA NA NA Score=65;Name=1118066_0_-_65 rs555609 0.69 0.69 0.683 0.701677 0.7565 0.5923 0.8141 0.5719 0.8538 0.76 0.63 0.81 0.57 0.7626 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 0.874432 NA NA 0.763372 0.622106 NA 0.732 NA 5.3841946 1122 9 94486688 94486688 G A exonic ROR2 NA synonymous SNV ROR2:NM_004560:exon9:c.C2088T:p.Y696Y exonic ENSG00000169071 NA synonymous SNV ENSG00000169071:ENST00000375708:exon9:c.C2088T:p.Y696Y,ENSG00000169071:ENST00000375715:exon9:c.C1668T:p.Y556Y Score=514;Name=lod=164 NA 9q22.31 NA NA NA NA rs10992063 0.43 0.43 0.419 0.415335 0.4215 0.4246 0.5331 0.4425 0.2791 0.44 0.4 0.46 0.42 0.4268 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.270038 NA NA 0.434302 0.429414 NA 0.449 NA 5.3840646 1122 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 1122 14 105354293 105354293 A G exonic CEP170B NA synonymous SNV CEP170B:NM_015005:exon11:c.A3507G:p.S1169S,CEP170B:NM_001112726:exon12:c.A3717G:p.S1239S exonic ENSG00000099814 NA synonymous SNV ENSG00000099814:ENST00000418279:exon11:c.A3507G:p.S1169S,ENSG00000099814:ENST00000556508:exon11:c.A3507G:p.S1169S,ENSG00000099814:ENST00000414716:exon12:c.A3717G:p.S1239S,ENSG00000099814:ENST00000453495:exon12:c.A3720G:p.S1240S Score=467;Name=lod=105 NA 14q32.33 Score=849;Name=V$P300_01 NA NA NA rs2582548 0.55 0.55 0.506 0.563698 0.7753 0.2272 0.6527 0.5454 0.6544 0.77 0.2 0.65 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 -0.52669 NA NA 0.785409 0.604565 ID=COSM1128319,COSM1128321;OCCURENCE=1(prostate) 0.565 NA 5.3838576 1122 11 67257823 67257823 C A exonic AIP NA nonsynonymous SNV AIP:NM_003977:exon5:c.C682A:p.Q228K exonic ENSG00000110711 NA nonsynonymous SNV ENSG00000110711:ENST00000528641:exon4:c.C493A:p.Q165K,ENSG00000110711:ENST00000279146:exon5:c.C682A:p.Q228K NA NA 11q13.2 NA NA NA NA rs641081 0.88 0.88 0.862 0.845447 0.998 1 0.9611 0.4365 1 1 1 0.97 0.5 0.955 1 1 T 0.0 B 0.0 B 0.027 N 1.000 P -0.445 N -0.72 T -0.952 T 0.000 T 0.158 -1.89 0.008 1.08 0.231 1.259 3.921 -1.89028 NA 1 0.996508 0.5175 NA 0.551 NA 5.3838254 1122 19 50484234 50484234 G A exonic VRK3 NA synonymous SNV VRK3:NM_001025778:exon12:c.C1104T:p.C368C,VRK3:NM_016440:exon13:c.C1254T:p.C418C exonic ENSG00000105053 NA synonymous SNV ENSG00000105053:ENST00000443401:exon10:c.C561T:p.C187C,ENSG00000105053:ENST00000377011:exon12:c.C1104T:p.C368C,ENSG00000105053:ENST00000601341:exon12:c.C1104T:p.C368C,ENSG00000105053:ENST00000316763:exon13:c.C1254T:p.C418C,ENSG00000105053:ENST00000594948:exon13:c.C1254T:p.C418C,ENSG00000105053:ENST00000599538:exon13:c.C1254T:p.C418C NA NA 19q13.33 NA NA NA NA rs16981617 0.17 0.17 0.158 0.170128 0.0646 0.2867 0.2421 0.1278 0.1646 0.06 0.31 0.2 0.15 0.1482 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062901 NA NA 0.070116 0.125738 ID=COSM148690;OCCURENCE=1(stomach) 0.138 NA 5.3837506 1122 4 39448542 39448542 C G exonic KLB NA synonymous SNV KLB:NM_175737:exon4:c.C2196G:p.P732P exonic ENSG00000134962 NA synonymous SNV ENSG00000134962:ENST00000257408:exon4:c.C2196G:p.P732P NA NA 4p14 NA Name=c-Myc,CTCF,HA-E2F1,Pol2,Pol2-4H8 Name=117 NA rs7685429 0.76 0.76 0.726 0.765176 0.7505 0.7212 0.8516 0.7201 0.8252 0.75 0.75 0.84 0.74 0.765 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 -0.036306 NA NA 0.767529 0.717599 NA 0.696 NA 5.3836376 1122 10 58118630 58118630 T C exonic ZWINT NA nonsynonymous SNV ZWINT:NM_007057:exon6:c.A559G:p.R187G,ZWINT:NM_032997:exon6:c.A559G:p.R187G exonic ENSG00000122952 NA nonsynonymous SNV ENSG00000122952:ENST00000318387:exon3:c.A199G:p.R67G,ENSG00000122952:ENST00000373944:exon6:c.A559G:p.R187G,ENSG00000122952:ENST00000395405:exon6:c.A559G:p.R187G NA NA 10q21.1 NA NA NA NA rs2241666 0.74 0.74 0.723 0.761981 0.6382 0.8313 0.7781 0.8026 0.7515 0.64 0.82 0.76 0.76 0.6805 0.82 0.56 T 0.0 B 0.003 B 0.857 N 1.000 P 0.57 N 0.82 T -0.980 T 0.000 T 0.03 -1.268 0.045 1.39 0.061 0.152 7.059 -1.268236 NA 0.24 0.631279 0.753064 NA 0.725 NA 5.3833544 1122 9 138905136 138905136 C T exonic NACC2 NA synonymous SNV NACC2:NM_144653:exon5:c.G1164A:p.T388T exonic ENSG00000148411 NA synonymous SNV ENSG00000148411:ENST00000371753:exon4:c.G1164A:p.T388T,ENSG00000148411:ENST00000277554:exon5:c.G1164A:p.T388T NA NA 9q34.3 Score=836;Name=V$GR_Q6 NA NA NA rs2280486 0.46 0.46 0.451 0.464257 0.4284 0.4494 0.4741 0.5469 0.3978 0.42 0.44 0.46 0.56 0.4342 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371953 NA NA 0.42074 0.511807 NA 0.587 NA 5.3833266 1122 12 7640589 7640589 C T exonic CD163 NA synonymous SNV CD163:NM_004244:exon7:c.G1515A:p.S505S,CD163:NM_203416:exon7:c.G1515A:p.S505S exonic ENSG00000177575 NA synonymous SNV ENSG00000177575:ENST00000359156:exon7:c.G1515A:p.S505S,ENSG00000177575:ENST00000396620:exon7:c.G1515A:p.S505S,ENSG00000177575:ENST00000432237:exon7:c.G1515A:p.S505S,ENSG00000177575:ENST00000541972:exon7:c.G1479A:p.S493S NA NA 12p13.31 NA NA NA NA rs7980201 0.05 0.05 0.043 0.057508 0.1044 0.0069 0.0605 0.0015 0.135 0.11 0.01 0.07 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 0.640679 NA NA 0.091512 0.01793 NA 0.058 NA 5.3827546 1122 7 99459256 99459256 C T exonic CYP3A43 NA synonymous SNV CYP3A43:NM_022820:exon11:c.C1047T:p.A349A,CYP3A43:NM_057095:exon11:c.C1047T:p.A349A,CYP3A43:NM_057096:exon11:c.C1047T:p.A349A exonic ENSG00000021461 NA synonymous SNV ENSG00000021461:ENST00000444905:exon4:c.C288T:p.A96A,ENSG00000021461:ENST00000415413:exon5:c.C414T:p.A138A,ENSG00000021461:ENST00000417625:exon8:c.C717T:p.A239A,ENSG00000021461:ENST00000342499:exon9:c.C627T:p.A209A,ENSG00000021461:ENST00000222382:exon11:c.C1047T:p.A349A,ENSG00000021461:ENST00000312017:exon11:c.C1047T:p.A349A,ENSG00000021461:ENST00000354829:exon11:c.C1047T:p.A349A NA NA 7q22.1 NA NA NA NA rs17342647 0.04 0.04 0.03 0.0307508 0.0934 NA 0.0461 0.003 0.0245 0.1 NA 0.06 0.0041 0.0754 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 -1.251771 NA NA 0.115349 0.024512 NA 0.014 NA 5.3825176 1122 15 79089007 79089007 T C exonic ADAMTS7 NA synonymous SNV ADAMTS7:NM_014272:exon4:c.A744G:p.V248V exonic ENSG00000136378 NA synonymous SNV ENSG00000136378:ENST00000388820:exon4:c.A744G:p.V248V Score=556;Name=lod=243 NA 15q25.1 NA Name=NRSF NA NA rs3743057 0.79 0.79 0.778 0.792532 0.7565 0.8631 0.8948 0.7534 0.7372 0.75 0.86 0.88 0.73 0.7736 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 0.970377 NA NA 0.754135 0.732923 NA 0.797 NA 5.3824316 1122 17 7402600 7402600 T C exonic POLR2A NA synonymous SNV POLR2A:NM_000937:exon10:c.T1461C:p.S487S exonic ENSG00000181222 NA synonymous SNV ENSG00000181222:ENST00000322644:exon10:c.T1461C:p.S487S,ENSG00000181222:ENST00000572844:exon10:c.T1461C:p.S487S Score=450;Name=lod=90 NA 17p13.1 Score=814;Name=V$PAX3_01 NA NA NA rs2228129 0.77 0.77 0.738 0.740016 0.7734 0.9236 0.8732 0.5605 0.6646 0.77 0.91 0.88 0.53 0.7569 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.498212 1.498212 NA 0.754651 0.610985 NA 0.667 NA 5.3817156 1122 9 34500879 34500879 C T intronic DNAI1 NA NA NA intronic ENSG00000122735 NA NA NA NA NA 9p13.3 NA Name=USF-1,CTCF,CTCF_(C-20),Znf143_(16618-1-AP),IRF4_(M-17),CTCF_(SC-5916),YY1_(C-20),BATF,Rad21,NRSF,SMC3_(ab9263) Name=100 NA rs10814116 0.19 0.19 0.187 0.182308 0.2028 0.3552 0.1052 0.0204 0.2566 0.2 0.36 0.11 0.02 0.1989 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518161 NA NA 0.217093 0.055152 NA 0.174 NA 5.381207 1122 6 38957853 38957853 A G exonic DNAH8 NA synonymous SNV DNAH8:NM_001206927:exon88:c.A13119G:p.L4373L exonic ENSG00000124721 NA synonymous SNV ENSG00000124721:ENST00000441566:exon83:c.A12360G:p.L4120L,ENSG00000124721:ENST00000359357:exon86:c.A12468G:p.L4156L,ENSG00000124721:ENST00000327475:exon87:c.A13083G:p.L4361L NA NA 6p21.2 Score=835;Name=V$OCT1_01 NA NA NA rs3737094 0.35 0.35 0.357 0.328674 0.4443 0.252 0.3429 0.3124 0.3006 0.44 0.25 0.34 0.31 0.3943 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.911094 NA NA 0.446977 0.332955 ID=COSM1180054,COSM1180053;OCCURENCE=1(prostate) 0.37 NA 5.3810896 1122 12 113319600 113319600 C T exonic RPH3A NA synonymous SNV RPH3A:NM_014954:exon14:c.C1263T:p.N421N,RPH3A:NM_001143854:exon15:c.C1275T:p.N425N exonic ENSG00000089169 NA synonymous SNV ENSG00000089169:ENST00000420983:exon13:c.C1275T:p.N425N,ENSG00000089169:ENST00000548866:exon13:c.C1128T:p.N376N,ENSG00000089169:ENST00000415485:exon14:c.C1275T:p.N425N,ENSG00000089169:ENST00000551052:exon14:c.C1263T:p.N421N,ENSG00000089169:ENST00000389385:exon15:c.C1275T:p.N425N,ENSG00000089169:ENST00000447659:exon15:c.C1128T:p.N376N,ENSG00000089169:ENST00000543106:exon15:c.C1275T:p.N425N Score=535;Name=lod=199 NA 12q24.13 NA NA NA NA rs2240194 0.55 0.55 0.542 0.568291 0.4264 0.6181 0.6066 0.7148 0.4376 0.42 0.58 0.58 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 0.83335 NA NA 0.41093 0.661371 NA 0.601 NA 5.3804366 1122 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 1122 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$IK2_01 NA NA NA rs11958187 0.47 0.47 0.462 0.474042 0.6203 0.3165 0.5447 0.3767 0.5675 0.62 0.28 0.61 0.37 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.890616 2.890616 NA NA NA ID=COSN167589;OCCURENCE=1(large_intestine) 0.522 NA 5.3797 1122 19 44057227 44057227 T C exonic XRCC1 NA synonymous SNV XRCC1:NM_006297:exon7:c.A618G:p.P206P exonic ENSG00000073050 NA synonymous SNV ENSG00000073050:ENST00000543982:exon6:c.A525G:p.P175P,ENSG00000073050:ENST00000594107:exon6:c.A507G:p.P169P,ENSG00000073050:ENST00000262887:exon7:c.A618G:p.P206P,ENSG00000073050:ENST00000598165:exon7:c.A639G:p.P213P NA NA 19q13.31 Score=869;Name=V$NFE2_01 NA NA NA rs915927 0.32 0.32 0.3 0.321286 0.4175 0.1161 0.255 0.4047 0.3681 0.42 0.11 0.3 0.41 0.4409 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824938 NA NA 0.428605 0.404134 NA 0.333 NA 5.3796616 1122 3 46490366 46490366 G A exonic LTF NA synonymous SNV LTF:NM_001199149:exon9:c.C1068T:p.I356I,LTF:NM_002343:exon9:c.C1200T:p.I400I exonic ENSG00000012223 NA synonymous SNV ENSG00000012223:ENST00000231751:exon9:c.C1200T:p.I400I,ENSG00000012223:ENST00000417439:exon9:c.C1200T:p.I400I,ENSG00000012223:ENST00000426532:exon9:c.C1068T:p.I356I,ENSG00000012223:ENST00000443496:exon12:c.C1161T:p.I387I NA NA 3p21.31 NA NA NA NA rs2230895 0.17 0.17 0.153 0.160942 0.0795 0.1994 0.2248 0.1914 0.1186 0.08 0.21 0.22 0.22 0.1223 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.054813 NA NA 0.085215 0.17567 NA 0.116 NA 5.3796516 1122 X 142795438 142795438 G T exonic SPANXN2 NA synonymous SNV SPANXN2:NM_001009615:exon2:c.C240A:p.P80P exonic ENSG00000203924 NA synonymous SNV ENSG00000203924:ENST00000370498:exon2:c.C240A:p.P80P NA NA Xq27.3 NA NA NA NA rs5908761 0.22 0.22 0.23052 NA NA NA NA NA NA 0.08 0.24 0.15 0.45 0.169 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.081661 NA NA 0.118312 0.416428 NA 0.152 NA 5.3793546 1122 13 109793246 109793246 G C exonic MYO16 NA synonymous SNV MYO16:NM_001198950:exon32:c.G4686C:p.P1562P,MYO16:NM_015011:exon32:c.G4620C:p.P1540P exonic ENSG00000041515 NA synonymous SNV ENSG00000041515:ENST00000357550:exon31:c.G4620C:p.P1540P,ENSG00000041515:ENST00000356711:exon32:c.G4620C:p.P1540P NA NA 13q33.3 NA NA NA NA rs80260507 0.06 0.06 0.047 0.0461262 0.1083 NA 0.0648 0.0272 0.0419 0.11 NA 0.07 0.05 0.0864 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 -1.046314 NA NA 0.09321 0.029479 ID=COSM432099;OCCURENCE=2(breast) NA NA 5.3787566 1122 10 71876382 71876382 C T exonic AIFM2 NA synonymous SNV AIFM2:NM_001198696:exon7:c.G765A:p.A255A,AIFM2:NM_032797:exon7:c.G765A:p.A255A exonic ENSG00000042286 NA synonymous SNV ENSG00000042286:ENST00000373248:exon6:c.G765A:p.A255A,ENSG00000042286:ENST00000307864:exon7:c.G765A:p.A255A NA NA 10q22.1 Score=896;Name=V$CEBP_01 Name=CTCF NA NA rs2394656 0.64 0.64 0.617 0.600639 0.7744 0.6409 0.6628 0.3661 0.6534 0.78 0.65 0.7 0.37 0.7193 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.973029 NA NA 0.794651 0.446891 NA 0.616 NA 5.3783156 1122 20 2796007 2796007 G A exonic C20orf141 NA synonymous SNV C20orf141:NM_080739:exon1:c.G177A:p.L59L,C20orf141:NM_001256538:exon2:c.G177A:p.L59L exonic ENSG00000198326,ENSG00000241690,ENSG00000258713 NA synonymous SNV ENSG00000258713:ENST00000380589:exon1:c.G177A:p.L59L,ENSG00000241690:ENST00000380593:exon2:c.G177A:p.L59L,ENSG00000198326:ENST00000554164:exon2:c.G177A:p.L59L,ENSG00000258713:ENST00000603872:exon2:c.G177A:p.L59L NA NA 20p13 NA NA NA NA rs12625619 0.13 0.13 0.128 0.146166 0.0726 0.1319 0.1225 0.2549 0.1063 0.08 0.13 0.1 0.23 0.1162 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.933919 NA NA 0.099884 0.21902 NA 0.109 NA 5.3779826 1122 2 39583446 39583446 A G exonic MAP4K3 NA synonymous SNV MAP4K3:NM_001270425:exon3:c.T189C:p.I63I,MAP4K3:NM_003618:exon3:c.T189C:p.I63I exonic ENSG00000011566 NA nonsynonymous SNV ENSG00000011566:ENST00000437968:exon2:c.T131C:p.L44S Score=651;Name=lod=587 NA 2p22.1 Score=881;Name=V$FOXJ2_02 NA NA NA rs8545 0.74 0.74 0.717 0.692093 0.9026 0.8472 0.7378 0.3169 0.7904 0.91 0.84 0.74 0.36 0.823 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 1.15421 NA 0 0.896672 0.416704 NA 0.688 NA 5.377728 1122 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 1122 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 1122 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 1122 6 146234644 146234644 G A exonic SHPRH NA synonymous SNV SHPRH:NM_001042683:exon24:c.C4296T:p.C1432C,SHPRH:NM_173082:exon24:c.C4308T:p.C1436C exonic ENSG00000146414 NA synonymous SNV ENSG00000146414:ENST00000275233:exon24:c.C4296T:p.C1432C,ENSG00000146414:ENST00000367503:exon24:c.C4308T:p.C1436C,ENSG00000146414:ENST00000367505:exon24:c.C4296T:p.C1432C,ENSG00000146414:ENST00000438092:exon24:c.C4308T:p.C1436C Score=635;Name=lod=508 NA 6q24.3 Score=865;Name=V$GR_Q6 NA NA NA rs9497426 0.83 0.83 0.813 0.836262 0.7485 0.8095 0.8646 0.9622 0.7638 0.75 0.8 0.87 0.96 0.7804 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 1.109403 NA NA 0.76056 0.928215 NA 0.812 NA 5.3772066 1122 17 11511457 11511457 C T exonic DNAH9 NA synonymous SNV DNAH9:NM_001372:exon2:c.C429T:p.P143P exonic ENSG00000007174 NA synonymous SNV ENSG00000007174:ENST00000262442:exon2:c.C429T:p.P143P,ENSG00000007174:ENST00000454412:exon2:c.C429T:p.P143P,ENSG00000007174:ENST00000579828:exon2:c.C429T:p.P143P NA NA 17p12 Score=825;Name=V$COMP1_01 NA NA NA rs11078022 0.41 0.41 0.357 0.443291 0.4235 0.5417 0.5648 0.1664 0.6503 0.4 0.54 0.54 0.18 0.4522 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634921 NA NA 0.413953 0.213345 NA 0.37 NA 5.3770136 1122 17 34942595 34942595 G A exonic GGNBP2 NA synonymous SNV GGNBP2:NM_024835:exon12:c.G1608A:p.K536K exonic ENSG00000005955 NA synonymous SNV ENSG00000005955:ENST00000304718:exon12:c.G1608A:p.K536K Score=613;Name=lod=415 NA 17q12 NA NA NA NA rs1106908 0.37 0.37 0.394 0.340256 0.4453 0.372 0.3357 0.2451 0.3313 0.44 0.4 0.35 0.25 0.392 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.826242 NA NA 0.452674 0.275533 ID=COSM148252;OCCURENCE=1(stomach) 0.304 NA 5.3766926 1122 6 17794494 17794494 G A exonic KIF13A NA synonymous SNV KIF13A:NM_001105566:exon25:c.C3208T:p.L1070L,KIF13A:NM_001105567:exon25:c.C3208T:p.L1070L,KIF13A:NM_001105568:exon25:c.C3208T:p.L1070L,KIF13A:NM_022113:exon25:c.C3208T:p.L1070L exonic ENSG00000137177 NA synonymous SNV ENSG00000137177:ENST00000502297:exon2:c.C259T:p.L87L,ENSG00000137177:ENST00000259711:exon25:c.C3208T:p.L1070L,ENSG00000137177:ENST00000378814:exon25:c.C3208T:p.L1070L,ENSG00000137177:ENST00000378816:exon25:c.C3208T:p.L1070L,ENSG00000137177:ENST00000378826:exon25:c.C3208T:p.L1070L,ENSG00000137177:ENST00000378843:exon25:c.C3208T:p.L1070L Score=579;Name=lod=301 NA 6p22.3 NA NA NA NA rs3734234 0.41 0.41 0.385 0.375 0.4314 0.5823 0.4207 0.146 0.3804 0.44 0.6 0.43 0.16 0.4176 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.965019 NA NA 0.440984 0.181746 NA 0.268 NA 5.3766826 1122 2 71220793 71220793 T G intronic TEX261 NA NA NA intronic ENSG00000144043,ENSG00000258881 NA NA NA NA NA 2p13.3 NA Name=ELF1_(SC-631),PU.1 Name=2 NA rs2276684 0.17 0.17 0.17 0.143171 0.2316 0.1597 0.1282 0.1051 0.0971 0.23 0.17 0.14 0.1 0.1741 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.943064 1.943064 NA 0.217674 0.129369 NA 0.196 NA 5.376626 1122 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 1122 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 1122 17 18057215 18057215 C G intronic MYO15A NA NA NA intronic ENSG00000091536 NA NA NA NA NA 17p11.2 NA Name=TBP,CTCF,Pol2,Pol2-4H8 Name=129 NA rs9916193 0.21 0.21 0.214 0.210264 0.2107 0.0119 0.1988 0.4107 0.1513 0.2 0.01 0.24 0.41 0.1971 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24622 NA NA 0.216064 0.348681 NA 0.116 NA 5.376136 1122 1 248789504 248789504 T C exonic OR2T11 NA nonsynonymous SNV OR2T11:NM_001001964:exon1:c.A926G:p.Q309R exonic ENSG00000183130 NA nonsynonymous SNV ENSG00000183130:ENST00000330803:exon1:c.A926G:p.Q309R Score=243;Name=lod=13 NA 1q44 NA NA NA NA rs1892442 0.96 0.96 0.948 0.95607 0.9861 1 0.9841 0.8578 0.9928 0.99 1 0.98 0.86 0.9805 1 0.28 T 0.0 B 0.002 B 0.169 N 1.000 P 1.005 L 1.3 T -1.035 T 0.000 T 0.065 -0.433 1.987 1.7 -0.050 -0.654 7.729 -0.432798 NA 0.19 0.990913 0.856238 NA 0.913 NA 5.3758204 1122 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 1122 1 92185657 92185657 C T exonic TGFBR3 NA synonymous SNV TGFBR3:NM_001195683:exon9:c.G1203A:p.P401P,TGFBR3:NM_003243:exon9:c.G1206A:p.P402P,TGFBR3:NM_001195684:exon10:c.G1203A:p.P401P exonic ENSG00000069702 NA synonymous SNV ENSG00000069702:ENST00000525962:exon8:c.G1206A:p.P402P,ENSG00000069702:ENST00000212355:exon9:c.G1206A:p.P402P,ENSG00000069702:ENST00000465892:exon9:c.G1203A:p.P401P,ENSG00000069702:ENST00000370399:exon10:c.G1203A:p.P401P Score=371;Name=lod=43 NA 1p22.1 NA NA NA NA rs1805112 0.39 0.39 0.384 0.40615 0.4592 0.5308 0.2824 0.2814 0.4796 0.45 0.46 0.28 0.32 0.4177 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.145127 NA NA 0.414651 0.317295 NA 0.362 NA 5.3751156 1123 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 1123 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 1123 1 16101217 16101217 C T exonic FBLIM1 NA synonymous SNV FBLIM1:NM_001024216:exon3:c.C525T:p.C175C,FBLIM1:NM_001024215:exon6:c.C816T:p.C272C,FBLIM1:NM_017556:exon7:c.C816T:p.C272C exonic ENSG00000162458 NA synonymous SNV ENSG00000162458:ENST00000332305:exon3:c.C525T:p.C175C,ENSG00000162458:ENST00000400773:exon5:c.C525T:p.C175C,ENSG00000162458:ENST00000441801:exon6:c.C816T:p.C272C,ENSG00000162458:ENST00000375766:exon7:c.C816T:p.C272C,ENSG00000162458:ENST00000375771:exon8:c.C816T:p.C272C NA NA 1p36.21 NA NA NA NA rs41268337 0.07 0.07 0.061 0.0553115 0.1243 NA 0.085 0.0446 0.0348 0.12 NA 0.11 0.06 0.076 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 0.90964 NA NA 0.091977 0.051294 NA 0.051 NA 5.3743896 1123 12 55945119 55945119 A G exonic OR6C4 NA nonsynonymous SNV OR6C4:NM_001005494:exon1:c.A109G:p.I37V exonic ENSG00000179626 NA nonsynonymous SNV ENSG00000179626:ENST00000394256:exon1:c.A109G:p.I37V NA NA 12q13.2 NA NA NA NA rs7313899 0.99 0.99 0.992 0.995407 0.9811 1 0.9971 0.9992 0.999 0.98 1 0.99 1 0.9924 1 1 T 0.0 B 0.001 B 0.015 N 1.000 P -0.495 N 6.76 T -0.982 T 0.000 T 0.017 -1.66 0.012 1.82 0.035 -2.974 0.493 -1.659809 NA 1 0.986047 0.996596 NA 1 NA 5.3737864 1123 2 17962518 17962518 C T exonic GEN1 NA nonsynonymous SNV GEN1:NM_001130009:exon14:c.C2039T:p.T680I,GEN1:NM_182625:exon14:c.C2039T:p.T680I exonic ENSG00000178295 NA nonsynonymous SNV ENSG00000178295:ENST00000317402:exon14:c.C2039T:p.T680I,ENSG00000178295:ENST00000381254:exon14:c.C2039T:p.T680I NA NA 2p24.2 NA NA NA NA rs300169 0.74 0.74 0.732 0.757987 0.6372 0.9851 0.7608 0.5719 0.8978 0.65 0.98 0.73 0.63 0.6981 0.98 0.96 T 0.0 B 0.0 B 0.184 N 1.000 P -1.78 N 2.01 T -0.997 T 0.000 T 0.022 -1.171 0.089 1.16 0.077 0.180 0.545 -1.170832 NA 0.92 0.624535 0.607354 NA 0.681 NA 5.3734984 1123 2 227872182 227872182 G A exonic COL4A4 NA synonymous SNV COL4A4:NM_000092:exon48:c.C4932T:p.F1644F exonic ENSG00000081052 NA synonymous SNV ENSG00000081052:ENST00000329662:exon47:c.C4923T:p.F1641F,ENSG00000081052:ENST00000396625:exon48:c.C4932T:p.F1644F Score=469;Name=lod=107 NA 2q36.3 NA NA NA NA rs2228557 0.46 0.46 0.422 0.514377 0.4205 0.4048 0.4741 0.6369 0.5869 0.42 0.39 0.47 0.58 0.4657 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.747645 NA NA 0.40701 0.574141 NA 0.493 NA 5.3734566 1123 7 47971626 47971626 G A exonic PKD1L1 NA synonymous SNV PKD1L1:NM_138295:exon5:c.C426T:p.I142I exonic ENSG00000158683 NA synonymous SNV ENSG00000158683:ENST00000289672:exon5:c.C426T:p.I142I NA NA 7p12.3 NA NA NA NA rs885338 0.14 0.14 0.139 0.146166 0.0676 0.251 0.1383 0.1256 0.1524 0.07 0.24 0.14 0.15 0.1292 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178281 NA NA 0.096744 0.136859 NA 0.101 NA 5.3731226 1123 19 39224413 39224413 A G exonic CAPN12 NA synonymous SNV CAPN12:NM_144691:exon18:c.T1887C:p.F629F exonic ENSG00000182472 NA synonymous SNV ENSG00000182472:ENST00000597987:exon2:c.T45C:p.F15F,ENSG00000182472:ENST00000601953:exon17:c.T1440C:p.F480F,ENSG00000182472:ENST00000328867:exon18:c.T1887C:p.F629F NA NA 19q13.2 NA Name=Pol2-4H8,c-Fos Name=50 NA rs4801861 0.78 0.78 0.805 0.801118 0.7763 0.6369 0.6758 0.9826 0.8395 0.78 0.65 0.73 0.97 0.7654 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 -1.11179 NA NA 0.75192 0.946412 NA 0.87 NA 5.3730466 1123 6 36294864 36294864 A G exonic C6orf222 NA synonymous SNV C6orf222:NM_001010903:exon4:c.T735C:p.A245A exonic ENSG00000189325 NA synonymous SNV ENSG00000189325:ENST00000437635:exon4:c.T735C:p.A245A NA NA 6p21.31 NA NA NA NA rs41270098 0.05 0.05 0.038 0.033147 0.0954 0.004 0.0591 0.0053 0.0184 0.1 0.01 0.06 0.01 0.0829 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 0.760134 NA NA 0.115349 0.029278 NA 0.065 NA 5.3730176 1123 2 239039896 239039896 G C exonic ESPNL NA synonymous SNV ESPNL:NM_194312:exon9:c.G2541C:p.P847P exonic ENSG00000144488 NA synonymous SNV ENSG00000144488:ENST00000409506:exon4:c.G1437C:p.P479P,ENSG00000144488:ENST00000409169:exon8:c.G2409C:p.P803P,ENSG00000144488:ENST00000343063:exon9:c.G2541C:p.P847P Score=603;Name=lod=375 NA 2q37.3 Score=847;Name=V$CEBP_C NA NA NA rs10182906 0.84 0.84 0.789 0.862819 0.7276 0.9276 0.7968 0.9773 0.8272 0.72 0.92 0.82 0.97 0.8143 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159355 NA NA 0.752044 0.948292 NA 0.623 NA 5.3727226 1123 1 24447943 24447943 G A exonic IL22RA1 NA synonymous SNV IL22RA1:NM_021258:exon7:c.C1077T:p.V359V exonic ENSG00000142677 NA synonymous SNV ENSG00000142677:ENST00000270800:exon7:c.C1077T:p.V359V NA NA 1p36.11 NA NA NA NA rs34967816 0.09 0.09 0.105 0.117212 0.0974 0.003 0.062 0.2186 0.1575 0.1 0.0017 0.07 0.2 0.0983 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.491408 NA NA 0.098256 0.192919 NA 0.21 NA 5.3727106 1123 11 65380916 65380916 G A exonic MAP3K11 NA synonymous SNV MAP3K11:NM_002419:exon1:c.C312T:p.G104G exonic ENSG00000173327 NA synonymous SNV ENSG00000173327:ENST00000309100:exon1:c.C312T:p.G104G NA NA 11q13.1 Score=903;Name=V$SP1_Q6 NA NA NA rs2004649 0.31 0.31 0.337 0.354433 0.4404 0.3244 0.2925 0.1195 0.6585 0.44 0.31 0.33 0.11 0.4263 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333775 NA NA 0.427474 0.185539 NA 0.362 NA 5.3724926 1123 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$ROAZ_01 NA NA NA rs2282083 0.39 0.39 0.345 0.358826 0.4493 0.3859 0.5101 0.2126 0.3282 0.44 0.42 0.51 0.19 0.4124 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.926681 NA NA 0.432907 0.24739 NA 0.37 NA 5.3720596 1123 4 110384790 110384790 A G exonic SEC24B NA synonymous SNV SEC24B:NM_001042734:exon2:c.A867G:p.P289P,SEC24B:NM_006323:exon2:c.A867G:p.P289P exonic ENSG00000138802 NA synonymous SNV ENSG00000138802:ENST00000265175:exon2:c.A867G:p.P289P,ENSG00000138802:ENST00000399100:exon2:c.A867G:p.P289P,ENSG00000138802:ENST00000504968:exon3:c.A960G:p.P320P NA NA 4q25 NA NA NA NA rs33911248 0.07 0.07 0.073 0.0708866 0.0934 NA 0.0591 0.1051 0.0828 0.09 NA 0.06 0.11 0.0948 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.44626 NA NA 0.106444 0.120638 NA 0.116 NA 5.3720226 1123 7 116436022 116436022 G A exonic MET NA synonymous SNV MET:NM_000245:exon21:c.G4017A:p.A1339A,MET:NM_001127500:exon21:c.G4071A:p.A1357A exonic ENSG00000105976 NA synonymous SNV ENSG00000105976:ENST00000539704:exon7:c.G627A:p.A209A,ENSG00000105976:ENST00000318493:exon21:c.G4071A:p.A1357A,ENSG00000105976:ENST00000397752:exon21:c.G4017A:p.A1339A NA NA 7q31.2 NA NA NA NA rs2023748 0.37 0.37 0.367 0.353834 0.4433 0.4673 0.4697 0.034 0.4949 0.44 0.53 0.43 0.05 0.4245 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.834947 NA NA 0.426847 0.102896 ID=COSM150378;OCCURENCE=1(stomach) 0.239 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079493.1;CLNDSDB=.;CLNDSDBID=. 5.3720196 1123 17 78445702 78445702 A G exonic NPTX1 NA synonymous SNV NPTX1:NM_002522:exon4:c.T907C:p.L303L exonic ENSG00000171246 NA synonymous SNV ENSG00000171246:ENST00000306773:exon4:c.T907C:p.L303L Score=490;Name=lod=131 NA 17q25.3 Score=821;Name=V$RFX1_01 NA NA NA rs1131609 0.79 0.79 0.781 0.775359 0.7555 0.7649 0.8055 0.823 0.7209 0.77 0.78 0.82 0.84 0.7767 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 0.995748 NA NA 0.762619 0.827735 NA 0.819 NA 5.3718476 1123 9 2651962 2651962 G T intronic VLDLR NA NA NA intronic ENSG00000147852 NA NA NA NA NA 9p24.2 Score=880;Name=V$NKX3A_01 NA NA NA rs6145 0.19 0.19 0.218 0.171725 0.2296 0.006 0.1311 0.3525 0.0675 0.23 0.0035 0.18 0.36 0.188 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.846705 NA NA 0.210698 0.342261 NA 0.167 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118823.2;CLNDSDB=.;CLNDSDBID=. 5.371702 1123 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 1123 16 2814162 2814162 G A exonic SRRM2 NA synonymous SNV SRRM2:NM_016333:exon11:c.G3633A:p.R1211R exonic ENSG00000167978 NA synonymous SNV ENSG00000167978:ENST00000301740:exon11:c.G3633A:p.R1211R Score=295;Name=lod=21 NA 16p13.3 NA Name=Pol2(phosphoS2) NA NA rs3094775 0.65 0.65 0.615 0.654553 0.7744 0.4226 0.8329 0.6248 0.684 0.78 0.38 0.83 0.63 0.737 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 -1.786525 NA NA 0.783837 0.665605 NA 0.725 NA 5.3714296 1123 20 25459764 25459764 T G exonic NINL NA synonymous SNV NINL:NM_025176:exon16:c.A1996C:p.R666R exonic ENSG00000101004 NA synonymous SNV ENSG00000101004:ENST00000278886:exon16:c.A1996C:p.R666R,ENSG00000101004:ENST00000422516:exon16:c.A1996C:p.R666R NA NA 20p11.21 NA NA NA NA rs11905437 0.09 0.09 0.087 0.0878594 0.0924 0.001 0.0403 0.171 0.0941 0.1 NA 0.05 0.19 0.0989 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 -1.047679 NA NA 0.10407 0.162279 NA 0.174 NA 5.3712966 1123 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 1123 3 58154177 58154177 G A exonic FLNB NA synonymous SNV FLNB:NM_001164319:exon43:c.G7137A:p.S2379S,FLNB:NM_001164318:exon44:c.G7176A:p.S2392S,FLNB:NM_001457:exon44:c.G7209A:p.S2403S,FLNB:NM_001164317:exon45:c.G7302A:p.S2434S exonic ENSG00000136068 NA synonymous SNV ENSG00000136068:ENST00000493452:exon42:c.G6630A:p.S2210S,ENSG00000136068:ENST00000348383:exon43:c.G7086A:p.S2362S,ENSG00000136068:ENST00000358537:exon43:c.G7137A:p.S2379S,ENSG00000136068:ENST00000419752:exon43:c.G6669A:p.S2223S,ENSG00000136068:ENST00000295956:exon44:c.G7209A:p.S2403S,ENSG00000136068:ENST00000429972:exon44:c.G7176A:p.S2392S,ENSG00000136068:ENST00000490882:exon45:c.G7302A:p.S2434S NA NA 3p14.3 NA NA NA NA rs13079906 0.07 0.07 0.048 0.0589058 0.0954 0.002 0.1052 0.0552 0.0521 0.11 0.0035 0.12 0.04 0.0898 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 0.714768 NA NA 0.110349 0.065365 NA 0.072 NA 5.3711176 1123 10 16918972 16918972 A G exonic CUBN NA synonymous SNV CUBN:NM_001081:exon57:c.T9030C:p.A3010A exonic ENSG00000107611 NA synonymous SNV ENSG00000107611:ENST00000377833:exon57:c.T9030C:p.A3010A NA NA 10p13 NA NA NA NA rs1801241 0.23 0.23 0.201 0.247404 0.0855 0.3065 0.2882 0.354 0.18 0.08 0.33 0.23 0.34 0.1528 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.386414 NA NA 0.057442 0.327054 ID=COSM146895;OCCURENCE=1(stomach) 0.283 NA 5.3709246 1123 12 131306314 131306314 C G exonic STX2 NA nonsynonymous SNV STX2:NM_001980:exon3:c.G125C:p.S42T,STX2:NM_194356:exon3:c.G125C:p.S42T exonic ENSG00000111450 NA nonsynonymous SNV ENSG00000111450:ENST00000261653:exon3:c.G125C:p.S42T,ENSG00000111450:ENST00000392373:exon3:c.G125C:p.S42T NA NA 12q24.33 NA NA NA NA rs17564 0.62 0.62 0.564 0.604034 0.6571 0.872 0.6499 0.2141 0.7679 0.67 0.88 0.62 0.22 0.6484 0.88 0.54 T 0.389 B 0.232 B 0.164 N 1.000 P 0.75 N 2.28 T -1.035 T 0.000 T 0.243 -0.29 2.614 -0.508 0.006 -0.070 5.415 -0.290165 NA 0.41 0.657093 0.276214 NA 0.652 NA 5.3707404 1123 3 9976159 9976159 A G exonic CRELD1 NA nonsynonymous SNV CRELD1:NM_015513:exon1:c.A37G:p.M13V,CRELD1:NM_001031717:exon2:c.A37G:p.M13V,CRELD1:NM_001077415:exon2:c.A37G:p.M13V exonic ENSG00000163703 NA nonsynonymous SNV ENSG00000163703:ENST00000383811:exon1:c.A37G:p.M13V,ENSG00000163703:ENST00000414117:exon1:c.A37G:p.M13V,ENSG00000163703:ENST00000326434:exon2:c.A37G:p.M13V,ENSG00000163703:ENST00000397170:exon2:c.A37G:p.M13V,ENSG00000163703:ENST00000452070:exon2:c.A37G:p.M13V NA NA 3p25.3 NA Name=CTCFL_(SC-98982),YY1,YY1_(C-20),CTCF_(C-20),CTCF NA NA rs279552 0.99 0.99 0.993 0.995607 0.9831 1 0.9971 1 0.9969 0.98 1 1 1 0.9916 1 0.6 T 0.0 B 0.0 B 0.141 N 1.000 P -0.345 N 0.27 T -1.007 T 0.000 T 0.081 -0.716 0.922 0.328 -0.160 -0.480 1.196 -0.715569 NA 0.84 0.987907 0.998411 NA 1 NA 5.3707264 1123 11 124539236 124539236 C T intronic SIAE NA NA NA intronic ENSG00000110013 NA NA NA NA NA 11q24.2 NA Name=POU2F2,CTCF,CTCF_(SC-5916),CTCF_(C-20),Znf143_(16618-1-AP),Rad21,Oct-2,YY1_(C-20),SMC3_(ab9263) Name=130 NA rs512225 0.1 0.1 0.099 0.086262 0.2197 0.001 0.1354 0.0076 0.1084 0.22 NA 0.15 0.02 0.1759 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.399366 NA NA 0.233775 0.046343 NA 0.239 NA 5.370625 1123 1 23751140 23751140 G T UTR5 TCEA3 NM_003196:c.-14C>A NA NA UTR5 ENSG00000204219 ENST00000450454:c.-14C>A,ENST00000374601:c.-14C>A NA NA Score=584;Name=lod=315 NA 1p36.12 NA Name=E2F1,HEY1,TAF1,HA-E2F1 Name=69 NA rs71514235 0.51 0.51 0.46 0.445687 0.672 0.5506 0.611 0.0855 0.4744 0.68 0.58 0.6 0.09 0.6165 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.299956 1.299956 NA 0.674321 0.229454 NA NA NA 5.3705124 1123 19 40368498 40368498 A C exonic FCGBP NA nonsynonymous SNV FCGBP:NM_003890:exon28:c.T12850G:p.S4284A exonic ENSG00000090920 NA nonsynonymous SNV ENSG00000090920:ENST00000221347:exon28:c.T12850G:p.S4284A NA NA 19q13.2 NA NA NA NA rs12610683 0.84 0.84 1 0.995208 0.998 0.998 0.9942 0.9939 0.9918 0.84 0.87 0.89 0.78 0.9655 0.89 0.57 T 0.0 B 0.0 B 0.363 N 1.000 P 0.025 N -0.94 T -0.993 T 0.000 T 0.08 -2.244 0.004 1.86 0.129 0.109 4.376 -2.244289 NA 0.98 NA NA NA NA NA 5.3698334 1123 2 121036333 121036333 G A exonic RALB NA synonymous SNV RALB:NM_002881:exon2:c.G93A:p.T31T exonic ENSG00000144118 NA synonymous SNV ENSG00000144118:ENST00000272519:exon2:c.G93A:p.T31T,ENSG00000144118:ENST00000404963:exon2:c.G93A:p.T31T,ENSG00000144118:ENST00000412383:exon2:c.G93A:p.T31T,ENSG00000144118:ENST00000420510:exon2:c.G93A:p.T31T,ENSG00000144118:ENST00000431732:exon2:c.G93A:p.T31T,ENSG00000144118:ENST00000447591:exon2:c.G159A:p.T53T,ENSG00000144118:ENST00000449649:exon2:c.G93A:p.T31T,ENSG00000144118:ENST00000474855:exon2:c.G159A:p.T53T NA NA 2q14.2 NA NA NA NA rs11545293 0.05 0.05 0.043 0.0441294 0.1064 0.003 0.0634 0.0008 0.0675 0.1 0.01 0.06 NA 0.082 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 0.42763 NA NA 0.108488 0.019973 NA 0.007 NA 5.3697786 1123 12 69646914 69646914 G A exonic CPSF6 NA synonymous SNV CPSF6:NM_007007:exon3:c.G354A:p.R118R exonic ENSG00000111605 NA synonymous SNV ENSG00000111605:ENST00000266679:exon3:c.G354A:p.R118R,ENSG00000111605:ENST00000435070:exon3:c.G354A:p.R118R,ENSG00000111605:ENST00000456847:exon3:c.G354A:p.R118R Score=678;Name=lod=759 NA 12q15 NA NA NA NA rs2305641 0.43 0.43 0.445 0.428714 0.4284 0.4395 0.4236 0.4607 0.3783 0.43 0.46 0.44 0.41 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 1.090387 NA NA 0.43846 0.447775 NA 0.399 NA 5.3694066 1123 21 40555351 40555351 G C UTR5 PSMG1 NM_003720:c.-40C>G,NM_001261824:c.-40C>G,NM_203433:c.-40C>G NA NA UTR5 ENSG00000183527 ENST00000331573:c.-40C>G,ENST00000380900:c.-40C>G NA NA NA NA 21q22.2 NA Name=USF1_(SC-8983),CHD2_(N-1250),HA-E2F1,Pol2,USF-1,Pol2(phosphoS2),E2F6,E2F6_(H-50),CTCF,Ini1,TAF7_(SQ-8),Pol2-4H8,TAF1,NFKB,E2F1,HEY1,c-Myc,Nrf1,TAL1_(SC-12984),IRF1,Max,ZBTB33,YY1_(C-20),PAX5-C20,Mxi1_(bHLH),Sin3Ak-20,E2F4,YY1,NANOG_(SC-33759),PAX5-N19,Pol2(b),CCNT2,TBP,JunD,GTF2F1_(RAP-74) Name=145 NA rs13052882 0.25 0.25 0.231 0.234225 0.3191 0.0367 0.2262 0.3661 0.1779 0.32 0.03 0.25 0.39 0.3186 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10183 NA NA 0.326501 0.335677 NA 0.181 NA 5.3691324 1123 17 74014628 74014628 G A exonic EVPL NA synonymous SNV EVPL:NM_001988:exon12:c.C1338T:p.H446H exonic ENSG00000167880 NA synonymous SNV ENSG00000167880:ENST00000301607:exon12:c.C1338T:p.H446H,ENSG00000167880:ENST00000586740:exon12:c.C1338T:p.H446H Score=414;Name=lod=64 NA 17q25.1 NA NA NA NA rs2071193 0.49 0.49 0.442 0.500799 0.4006 0.751 0.4885 0.3646 0.5389 0.43 0.74 0.46 0.31 0.4708 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.641962 NA NA 0.426279 0.413981 NA 0.37 NA 5.3689876 1123 1 212274413 212274413 A C exonic DTL NA nonsynonymous SNV DTL:NM_016448:exon14:c.A2081C:p.K694T exonic ENSG00000143476 NA nonsynonymous SNV ENSG00000143476:ENST00000542077:exon13:c.A1955C:p.K652T,ENSG00000143476:ENST00000366991:exon14:c.A2081C:p.K694T NA NA 1q32.3 NA NA NA NA rs6540718 0.99 0.99 0.998 0.996605 0.9891 1 0.9971 1 0.9959 0.99 1 0.99 1 0.9887 1 1 T 0.0 B 0.0 B 0.013 N 1.000 P -0.695 N -0.39 T -0.950 T 0.000 T 0.03 -2.421 0.003 2.71 0.376 -0.568 5.714 -2.421242 NA 1 0.986977 0.99773 NA 0.993 NA 5.3685564 1123 1 247614693 247614693 C T exonic OR2B11 NA nonsynonymous SNV OR2B11:NM_001004492:exon1:c.G592A:p.V198M exonic ENSG00000177535 NA nonsynonymous SNV ENSG00000177535:ENST00000318749:exon1:c.G592A:p.V198M NA NA 1q44 NA NA NA NA rs6695302 0.91 0.91 0.89 0.895567 0.998 1 0.9741 0.6203 0.999 1 1 0.98 0.64 0.9695 1 0.24 T 0.007 B 0.009 B 0.672 N 1.000 P 1.245 L 8.62 T -0.923 T 0.000 T 0.036 -0.449 1.918 -1.39 -0.104 -3.172 5.376 -0.449126 NA 0.22 0.997442 0.700409 NA 0.87 NA 5.3683914 1123 6 34949607 34949607 C T exonic ANKS1A NA synonymous SNV ANKS1A:NM_015245:exon4:c.C576T:p.Y192Y exonic ENSG00000064999 NA synonymous SNV ENSG00000064999:ENST00000360359:exon4:c.C576T:p.Y192Y,ENSG00000064999:ENST00000535627:exon4:c.C576T:p.Y192Y Score=558;Name=lod=246 NA 6p21.31 Score=753;Name=V$NRSF_01 NA NA NA rs2293242 0.59 0.59 0.59 0.550519 0.7942 0.4058 0.7075 0.3275 0.6391 0.79 0.43 0.73 0.33 0.7121 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 0.521531 NA NA 0.792209 0.435089 NA 0.645 NA 5.3681576 1123 6 31085269 31085269 A G exonic CDSN NA synonymous SNV CDSN:NM_001264:exon2:c.T123C:p.P41P exonic ENSG00000204539 NA synonymous SNV ENSG00000204539:ENST00000376288:exon2:c.T123C:p.P41P Score=374;Name=lod=44 NA 6p21.33 NA Name=GATA3_(SC-268) NA NA rs3132552 0.8 0.8 0.819 0.834465 0.7356 0.875 0.7666 0.913 0.8364 0.72 0.87 0.73 0.91 0.8099 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 0.36576 NA NA 0.753395 0.898305 NA 0.841 NA 5.3677716 1123 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 1123 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 1123 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 1123 17 79571637 79571637 C G exonic NPLOC4 NA synonymous SNV NPLOC4:NM_017921:exon8:c.G771C:p.T257T exonic ENSG00000182446 NA synonymous SNV ENSG00000182446:ENST00000539314:exon7:c.G288C:p.T96T,ENSG00000182446:ENST00000331134:exon8:c.G771C:p.T257T,ENSG00000182446:ENST00000374747:exon8:c.G771C:p.T257T NA NA 17q25.3 NA NA NA NA rs11541223 0.09 0.09 0.056 0.0928514 0.0905 0.0754 0.245 0.0204 0.1033 0.09 0.05 0.22 0.02 0.1094 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.631167 NA NA 0.100503 0.036531 NA 0.065 NA 5.3662636 1123 8 144403449 144403449 G A exonic TOP1MT NA synonymous SNV TOP1MT:NM_001258447:exon8:c.C774T:p.G258G,TOP1MT:NM_052963:exon8:c.C1068T:p.G356G,TOP1MT:NM_001258446:exon9:c.C774T:p.G258G exonic ENSG00000184428 NA synonymous SNV ENSG00000184428:ENST00000329245:exon8:c.C1068T:p.G356G,ENSG00000184428:ENST00000519139:exon8:c.C774T:p.G258G,ENSG00000184428:ENST00000519148:exon8:c.C774T:p.G258G,ENSG00000184428:ENST00000521193:exon9:c.C774T:p.G258G,ENSG00000184428:ENST00000523676:exon9:c.C774T:p.G258G NA NA 8q24.3 NA NA NA NA rs61631623 0.12 0.12 0.119 0.120208 0.0905 0.0893 0.0807 0.236 0.0542 0.08 0.1 0.1 0.21 0.0993 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.924261 NA NA 0.110698 0.191644 NA 0.13 NA 5.3661686 1123 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 1123 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 1123 16 56920969 56920969 C T exonic SLC12A3 NA synonymous SNV SLC12A3:NM_000339:exon17:c.C2142T:p.A714A,SLC12A3:NM_001126107:exon17:c.C2139T:p.A713A,SLC12A3:NM_001126108:exon17:c.C2142T:p.A714A exonic ENSG00000070915 NA synonymous SNV ENSG00000070915:ENST00000262502:exon17:c.C2139T:p.A713A,ENSG00000070915:ENST00000438926:exon17:c.C2142T:p.A714A,ENSG00000070915:ENST00000563236:exon17:c.C2142T:p.A714A,ENSG00000070915:ENST00000566786:exon17:c.C2139T:p.A713A NA NA 16q13 NA NA NA NA rs5803 0.15 0.15 0.14 0.152955 0.0845 0.2212 0.2089 0.1127 0.1677 0.08 0.24 0.19 0.13 0.1237 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309301 NA NA 0.09314 0.128298 NA 0.087 NA 5.3653266 1124 17 6913652 6913652 G A exonic ALOX12 NA synonymous SNV ALOX12:NM_000697:exon14:c.G1902A:p.L634L exonic ENSG00000108839 NA synonymous SNV ENSG00000108839:ENST00000251535:exon14:c.G1902A:p.L634L NA NA 17p13.1 NA NA NA NA rs312462 0.09 0.09 0.097 0.119209 0.0865 0.129 0.0879 0.0613 0.2434 0.08 0.13 0.08 0.07 0.1149 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174416 NA NA 0.100349 0.066046 NA 0.116 NA 5.3649176 1124 19 52085095 52085095 G A exonic ZNF175 NA synonymous SNV ZNF175:NM_007147:exon4:c.G255A:p.P85P exonic ENSG00000105497 NA synonymous SNV ENSG00000105497:ENST00000436511:exon3:c.G255A:p.P85P,ENSG00000105497:ENST00000262259:exon4:c.G255A:p.P85P NA NA 19q13.41 NA NA NA NA rs35431178 0.06 0.06 0.061 0.0461262 0.1083 0.002 0.072 0.0303 0.0307 0.11 0.0017 0.09 0.03 0.0783 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 -0.47839 NA NA 0.115349 0.039038 NA 0.022 NA 5.3647176 1124 17 15207364 15207364 T G exonic TEKT3 NA synonymous SNV TEKT3:NM_031898:exon9:c.A1362C:p.T454T exonic ENSG00000125409 NA synonymous SNV ENSG00000125409:ENST00000338696:exon8:c.A1362C:p.T454T,ENSG00000125409:ENST00000395930:exon9:c.A1362C:p.T454T Score=480;Name=lod=119 NA 17p12 NA NA Name=3 NA rs13961 0.77 0.77 0.774 0.786741 0.7684 0.7232 0.7536 0.8487 0.8108 0.79 0.7 0.78 0.81 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 -0.359405 NA NA 0.76 0.838629 NA 0.87 NA 5.3645666 1124 12 108686008 108686008 C G exonic CMKLR1 NA synonymous SNV CMKLR1:NM_001142344:exon3:c.G732C:p.V244V,CMKLR1:NM_001142345:exon3:c.G732C:p.V244V,CMKLR1:NM_004072:exon3:c.G726C:p.V242V,CMKLR1:NM_001142343:exon4:c.G732C:p.V244V exonic ENSG00000174600 NA synonymous SNV ENSG00000174600:ENST00000312143:exon3:c.G732C:p.V244V,ENSG00000174600:ENST00000397688:exon3:c.G726C:p.V242V,ENSG00000174600:ENST00000412676:exon3:c.G732C:p.V244V,ENSG00000174600:ENST00000552995:exon3:c.G726C:p.V242V,ENSG00000174600:ENST00000550402:exon4:c.G732C:p.V244V Score=461;Name=lod=100 NA 12q23.3 NA NA NA NA rs1057401 0.36 0.36 0.368 0.370407 0.4473 0.0119 0.3156 0.6513 0.32 0.42 0.02 0.38 0.63 0.3865 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605295 NA NA 0.468514 0.600234 NA 0.471 NA 5.3643526 1124 4 144442735 144442735 C T exonic SMARCA5 NA synonymous SNV SMARCA5:NM_003601:exon3:c.C406T:p.L136L exonic ENSG00000153147 NA synonymous SNV ENSG00000153147:ENST00000283131:exon3:c.C406T:p.L136L Score=728;Name=lod=1209 NA 4q31.21 NA NA NA NA rs11541117 0.52 0.52 0.525 0.519768 0.4175 0.744 0.4251 0.5129 0.4703 0.41 0.73 0.41 0.53 0.4613 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 0.797617 NA NA 0.423953 0.519065 NA 0.457 NA 5.3639136 1124 11 615011 615011 A T intronic IRF7 NA NA NA exonic ENSG00000185507 NA nonsynonymous SNV ENSG00000185507:ENST00000533190:exon3:c.T269A:p.F90Y NA NA 11p15.5 Score=772;Name=V$HEN1_01 NA NA NA rs12272434 0.28 0.28 0.252 0.276358 0.2674 0.0208 0.3026 0.5862 0.1115 0.26 0.01 0.35 0.57 0.3108 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.493014 2.493014 NA 0.224583 0.377064 NA NA NA 5.3638837 1124 4 102965043 102965043 T C exonic BANK1 NA nonsynonymous SNV BANK1:NM_001127507:exon10:c.T1549C:p.C517R,BANK1:NM_001083907:exon11:c.T1858C:p.C620R,BANK1:NM_017935:exon11:c.T1948C:p.C650R exonic ENSG00000153064 NA nonsynonymous SNV ENSG00000153064:ENST00000428908:exon10:c.T1549C:p.C517R,ENSG00000153064:ENST00000508653:exon10:c.T1549C:p.C517R,ENSG00000153064:ENST00000322953:exon11:c.T1948C:p.C650R,ENSG00000153064:ENST00000444316:exon11:c.T1858C:p.C620R,ENSG00000153064:ENST00000504592:exon15:c.T1903C:p.C635R NA NA 4q24 NA NA NA NA rs3113676 1 1 0.996 0.996805 0.9911 1 0.9957 1 0.9959 0.99 1 1 1 0.9915 1 0.4 T 0.0 B 0.0 B 0.307 N 1.000 P 0.345 N 0.57 T -1.001 T 0.000 T 0.067 -2.589 0 3.64 0.653 0.487 6.424 -2.589457 NA 0.37 0.986857 0.997957 NA 1 NA 5.3638764 1124 10 48390041 48390041 C T exonic RBP3 NA synonymous SNV RBP3:NM_002900:exon1:c.G837A:p.T279T exonic ENSG00000107618 NA synonymous SNV ENSG00000107618:ENST00000224600:exon1:c.G837A:p.T279T NA NA 10q11.22 NA NA NA NA rs2376635 0.11 0.11 0.112 0.128794 0.0915 0.0575 0.0735 0.2156 0.1626 0.09 0.07 0.08 0.19 0.1118 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562786 NA NA 0.099767 0.209487 NA 0.101 NA 5.3635996 1124 22 46712077 46712077 C T exonic GTSE1 NA synonymous SNV GTSE1:NM_016426:exon7:c.C1200T:p.V400V exonic ENSG00000075218 NA synonymous SNV ENSG00000075218:ENST00000454366:exon7:c.C1200T:p.V400V NA NA 22q13.31 NA NA NA NA rs9615947 0.06 0.06 0.058 0.0405351 0.1223 0.003 0.0576 0.0038 0.0327 0.12 0.0017 0.08 0.002 0.0762 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 0.176206 NA NA 0.1047 0.018611 NA 0.029 NA 5.3634666 1124 20 36793529 36793529 G A intronic TGM2 NA NA NA intronic ENSG00000198959 NA NA NA NA NA 20q11.23 NA Name=HEY1,Pol2,Ini1,AP-2gamma,AP-2alpha,NRSF Name=3 NA rs2076380 0.37 0.37 0.325 0.360024 0.3201 0.5198 0.4308 0.208 0.3916 0.33 0.55 0.37 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 0.058876 NA NA 0.316468 0.21315 NA 0.493 NA 5.363432 1124 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 1124 6 116892839 116892839 C T intronic RWDD1 NA NA NA intronic ENSG00000111832 NA NA NA NA NA 6q22.1 NA Name=HA-E2F1,Pol2,CTCF,Pol2-4H8,HMGN3,TAF1,GATA-1,HEY1,STAT1,Mxi1_(bHLH),ZNF263 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 1124 X 55116466 55116466 C G exonic PAGE2 NA nonsynonymous SNV PAGE2:NM_207339:exon2:c.C13G:p.L5V exonic ENSG00000234068 NA nonsynonymous SNV ENSG00000234068:ENST00000374965:exon2:c.C13G:p.L5V,ENSG00000234068:ENST00000374968:exon2:c.C13G:p.L5V,ENSG00000234068:ENST00000449097:exon2:c.C13G:p.L5V NA NA Xp11.21 NA NA NA NA rs1845444 0.95 0.95 0.92448 NA NA NA NA NA NA 1 1 0.97 0.78 0.9757 1 1 T 0.0 B 0.0 B . . 1.000 P -2.39 N 2.31 T -0.977 T 0.000 T 0.166 -3.053 0.001 -0.443 -0.952 -0.300 . -3.053347 NA 1 0.994347 0.798366 NA 0.681 NA 5.3632864 1124 12 14976497 14976497 T C exonic C12orf60 NA synonymous SNV C12orf60:NM_175874:exon2:c.T628C:p.L210L exonic ENSG00000182993 NA synonymous SNV ENSG00000182993:ENST00000330828:exon2:c.T628C:p.L210L NA NA 12p12.3 NA NA NA NA rs61920259 0.06 0.06 0.056 0.0545128 0.1173 0.0298 0.0533 0.0061 0.0818 0.12 0.04 0.07 0.0041 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 -0.506783 NA NA 0.103681 0.024124 NA 0.051 NA 5.3632856 1124 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 1124 8 145742514 145742514 A G exonic RECQL4 NA nonsynonymous SNV RECQL4:NM_004260:exon4:c.T274C:p.S92P exonic ENSG00000160957 NA nonsynonymous SNV ENSG00000160957:ENST00000428558:exon4:c.T274C:p.S92P NA NA 8q24.3 NA Name=HNF4A_(H-171),Pol2,GABP,HEY1,HNF4A Name=21 NA rs2721190 0.93 0.93 0.944 0.943291 0.998 0.8065 0.9222 0.9781 0.9959 1 0.8 0.93 0.97 0.9733 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.57298 1.57298 0.27 0.999276 0.986486 NA 0.928 NA 5.3627574 1124 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 1124 11 615010 615010 G T intronic IRF7 NA NA NA exonic ENSG00000185507 NA nonsynonymous SNV ENSG00000185507:ENST00000533190:exon3:c.C270A:p.F90L NA NA 11p15.5 Score=772;Name=V$HEN1_01 NA NA NA rs12290989 0.28 0.28 0.241 0.276158 0.2674 0.0208 0.3026 0.5847 0.1125 0.26 0.01 0.35 0.56 0.3131 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080719 NA NA 0.224235 0.374632 NA NA NA 5.3619317 1124 14 105416685 105416685 C G exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.G5103C:p.L1701L exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.G5103C:p.L1701L NA NA 14q32.33 Score=800;Name=V$ER_Q6 NA NA NA rs2582506 0.58 0.58 0.571 0.00219649 NA 0.001 NA 0.0038 0.0051 0.65 0.39 0.56 0.69 0.6347 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 -0.253001 NA NA 0.67021 0.734837 NA 0.565 NA 5.3617566 1124 1 87102593 87102593 T C ncRNA_splicing CLCA3P NR_024604:exon4:c.575+2T>C NA NA ncRNA_splicing ENSG00000153923 ENST00000284054:exon4:c.578+2T>C,ENST00000466454:exon4:c.575+2T>C,ENST00000490028:exon4:c.575+2T>C NA NA Score=459;Name=lod=98 NA 1p22.3 NA NA NA NA rs41286592 0.06 0.06 0.048 0.0405351 0.1123 NA 0.0793 0.0068 0.0266 0.12 NA 0.08 0.01 0.0819 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 3.825365 3.825365 NA 0.110814 0.021788 NA 0.051 NA 5.3616526 1124 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 1124 12 108941679 108941679 G A exonic SART3 NA synonymous SNV SART3:NM_014706:exon3:c.C528T:p.A176A exonic ENSG00000075856 NA synonymous SNV ENSG00000075856:ENST00000228284:exon3:c.C528T:p.A176A,ENSG00000075856:ENST00000431469:exon3:c.C528T:p.A176A,ENSG00000075856:ENST00000546728:exon3:c.C528T:p.A176A,ENSG00000075856:ENST00000546815:exon3:c.C528T:p.A176A,ENSG00000075856:ENST00000547528:exon3:c.C528T:p.A176A,ENSG00000075856:ENST00000550322:exon3:c.C132T:p.A44A,ENSG00000075856:ENST00000550619:exon3:c.C132T:p.A44A NA NA 12q23.3 NA NA NA NA rs12579216 0.09 0.09 0.084 0.103035 0.0964 0.1419 0.0634 0.0242 0.2045 0.09 0.14 0.09 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 0.90782 NA NA 0.101744 0.045393 ID=COSM147603;OCCURENCE=1(stomach) 0.13 NA 5.3615226 1124 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 1124 14 52906081 52906081 T G exonic TXNDC16 NA synonymous SNV TXNDC16:NM_001160047:exon20:c.A2020C:p.R674R,TXNDC16:NM_020784:exon20:c.A2035C:p.R679R exonic ENSG00000087301 NA synonymous SNV ENSG00000087301:ENST00000281741:exon20:c.A2035C:p.R679R NA NA 14q22.1 Score=763;Name=V$PAX4_04 NA NA NA rs2249922 0.55 0.55 0.564 0.588259 0.4036 0.7073 0.4438 0.7005 0.6063 0.4 0.66 0.45 0.72 0.4893 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.016985 NA NA 0.412674 0.676577 NA 0.623 NA 5.3610926 1124 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 1124 12 129566406 129566406 C T exonic TMEM132D NA synonymous SNV TMEM132D:NM_133448:exon7:c.G1821A:p.T607T exonic ENSG00000151952 NA synonymous SNV ENSG00000151952:ENST00000389441:exon2:c.G435A:p.T145T,ENSG00000151952:ENST00000422113:exon7:c.G1821A:p.T607T NA NA 12q24.33 NA NA NA NA rs79031518 0.1 0.1 0.109 0.101238 0.1143 0.1815 0.0793 0.0333 0.1125 0.11 0.17 0.07 0.03 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 0.781931 NA NA 0.094884 0.044258 NA 0.036 NA 5.3606826 1124 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 1124 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 1124 1 29644328 29644328 C T exonic PTPRU NA synonymous SNV PTPRU:NM_001195001:exon25:c.C3573T:p.R1191R,PTPRU:NM_133178:exon25:c.C3582T:p.R1194R,PTPRU:NM_005704:exon26:c.C3612T:p.R1204R,PTPRU:NM_133177:exon26:c.C3600T:p.R1200R exonic ENSG00000060656 NA synonymous SNV ENSG00000060656:ENST00000373779:exon25:c.C3582T:p.R1194R,ENSG00000060656:ENST00000428026:exon25:c.C3573T:p.R1191R,ENSG00000060656:ENST00000323874:exon26:c.C3600T:p.R1200R,ENSG00000060656:ENST00000345512:exon26:c.C3612T:p.R1204R,ENSG00000060656:ENST00000356870:exon26:c.C3600T:p.R1200R,ENSG00000060656:ENST00000460170:exon26:c.C3600T:p.R1200R NA NA 1p35.3 NA NA NA NA rs1045453 0.08 0.08 0.091 0.0734824 0.1193 0.004 0.0533 0.0877 0.093 0.13 NA 0.07 0.11 0.0923 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.066844 NA NA 0.094884 0.08965 NA 0.065 NA 5.3601826 1124 3 45134822 45134822 T C exonic CDCP1 NA nonsynonymous SNV CDCP1:NM_022842:exon6:c.A1574G:p.Q525R exonic ENSG00000163814 NA nonsynonymous SNV ENSG00000163814:ENST00000296129:exon6:c.A1574G:p.Q525R NA NA 3p21.31 NA NA NA NA rs3749191 0.72 0.72 0.707 0.732029 0.6292 0.9554 0.7594 0.5499 0.8344 0.63 0.97 0.73 0.57 0.7036 0.97 0.84 T 0.0 B 0.001 B 0.323 N 1.000 P 1.79 L 1.94 T -0.919 T 0.000 T 0.016 -0.269 2.712 -1.14 -0.446 -0.239 0.489 -0.268516 NA 0.85 0.640698 0.567635 NA 0.804 NA 5.3598354 1124 3 3067853 3067853 G A exonic CNTN4 NA synonymous SNV CNTN4:NM_001206956:exon6:c.G570A:p.P190P,CNTN4:NM_175613:exon6:c.G570A:p.P190P,CNTN4:NM_001206955:exon14:c.G1554A:p.P518P,CNTN4:NM_175607:exon15:c.G1554A:p.P518P exonic ENSG00000144619 NA synonymous SNV ENSG00000144619:ENST00000448906:exon5:c.G570A:p.P190P,ENSG00000144619:ENST00000397459:exon6:c.G570A:p.P190P,ENSG00000144619:ENST00000358480:exon9:c.G897A:p.P299P,ENSG00000144619:ENST00000427331:exon12:c.G1554A:p.P518P,ENSG00000144619:ENST00000397461:exon14:c.G1554A:p.P518P,ENSG00000144619:ENST00000418658:exon15:c.G1554A:p.P518P NA NA 3p26.2 NA NA NA NA rs7639977 0.13 0.13 0.144 0.142772 0.1034 0.0903 0.0951 0.2935 0.0675 0.09 0.07 0.12 0.28 0.1042 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.039941 NA NA 0.099419 0.277576 NA 0.101 NA 5.3596476 1124 1 171168585 171168585 A G exonic FMO2 NA synonymous SNV FMO2:NM_001460:exon5:c.A585G:p.S195S exonic ENSG00000094963 NA synonymous SNV ENSG00000094963:ENST00000209929:exon5:c.A585G:p.S195S,ENSG00000094963:ENST00000441535:exon5:c.A585G:p.S195S NA NA 1q24.3 Score=871;Name=V$IRF7_01 NA NA NA rs2020861 0.48 0.48 0.532 0.589257 0.3877 0.6032 0.6167 0.7209 0.5849 0.36 0.53 0.51 0.61 0.5021 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 -0.603828 NA NA 0.417326 0.669768 ID=COSM146683;OCCURENCE=1(stomach) 0.109 NA 5.3595406 1124 7 158672476 158672476 C G exonic WDR60 NA nonsynonymous SNV WDR60:NM_018051:exon5:c.C675G:p.N225K exonic ENSG00000126870 NA nonsynonymous SNV ENSG00000126870:ENST00000444851:exon1:c.C6G:p.N2K,ENSG00000126870:ENST00000407559:exon5:c.C675G:p.N225K NA NA 7q36.3 NA NA NA NA rs2709859 1 1 0.997 0.995807 0.994 1 0.9957 0.9985 0.9898 0.99 1 0.99 1 0.992 1 0.83 T 0.0 B 0.0 B 0.833 N 1.000 P -0.805 N 2.12 T -1.012 T 0.000 T 0.019 -1.36 0.027 2.63 0.486 0.890 7.655 -1.360103 NA 1 0.98844 0.996518 NA 1 NA 5.3588934 1124 1 161676970 161676970 A G UTR5 FCRLA NM_032738:c.-34A>G,NM_001184873:c.-34A>G,NM_001184872:c.-34A>G,NM_001184870:c.-34A>G,NM_001184867:c.-34A>G,NM_001184866:c.-34A>G,NM_001184871:c.-34A>G NA NA UTR5 ENSG00000132185 ENST00000540926:c.-85A>G,ENST00000350710:c.-34A>G,ENST00000367949:c.-34A>G,ENST00000540521:c.-34A>G,ENST00000546024:c.-34A>G,ENST00000367959:c.-34A>G,ENST00000236938:c.-34A>G NA NA Score=472;Name=lod=110 NA 1q23.3 NA Name=Oct-2,TBP,YY1,Pol2,GATA2_(CG2-96),TAF7_(SQ-8),POU2F2,NFKB,IRF4_(M-17),TAF1,Pol2-4H8 Name=17 NA rs1340978 0.67 0.67 0.674 0.639177 0.6879 0.8254 0.5101 0.5953 0.5481 0.67 0.81 0.56 0.58 0.633 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 2.202968 2.202968 NA 0.653837 0.601906 NA 0.725 NA 5.3585964 1124 1 6635231 6635231 A G exonic TAS1R1 NA nonsynonymous SNV TAS1R1:NM_138697:exon3:c.A1039G:p.K347E exonic ENSG00000173662 NA nonsynonymous SNV ENSG00000173662:ENST00000328191:exon3:c.A1039G:p.K347E,ENSG00000173662:ENST00000333172:exon3:c.A1039G:p.K347E NA NA 1p36.31 NA NA NA NA rs10864628 0.94 0.94 0.926 0.923323 0.999 1 0.9841 0.7216 0.9959 1 1 0.98 0.75 0.9769 1 1 T 0.056 B 0.028 B 0.834 N 1.000 P 0 N -2.1 D -0.971 T 0.000 T 0.285 -1.577 0.014 -0.461 -0.214 0.442 6.901 -1.577061 NA 0.78 0.999302 0.764412 NA 0.891 NA 5.3581314 1124 19 6697406 6697406 A G exonic C3 NA synonymous SNV C3:NM_000064:exon21:c.T2745C:p.A915A exonic ENSG00000125730 NA synonymous SNV ENSG00000125730:ENST00000245907:exon21:c.T2745C:p.A915A NA NA 19p13.3 NA Name=PAX5-C20,E2F6_(H-50),GABP,ELF1_(SC-631) Name=6 NA rs423490 0.82 0.82 0.828 0.814896 0.7664 0.9127 0.866 0.7511 0.8139 0.76 0.92 0.85 0.78 0.7889 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 -0.592481 NA NA 0.753256 0.760781 NA 0.732 NA 5.3581106 1124 3 19961331 19961331 T C exonic EFHB NA synonymous SNV EFHB:NM_144715:exon3:c.A990G:p.S330S exonic ENSG00000163576 NA synonymous SNV ENSG00000163576:ENST00000440022:exon2:c.A201G:p.S67S,ENSG00000163576:ENST00000295824:exon3:c.A990G:p.S330S,ENSG00000163576:ENST00000389256:exon3:c.A990G:p.S330S,ENSG00000163576:ENST00000344838:exon5:c.A600G:p.S200S NA NA 3p24.3 NA NA NA NA rs2929362 0.12 0.12 NA 0.196286 0.1481 0.1081 0.1153 0.3177 0.2301 0.12 0.08 0.08 0.19 0.1589 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 0.066108 NA NA 0.001628 0.00545 NA NA NA 5.3580386 1124 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 1124 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 1124 3 33055721 33055721 A G exonic GLB1 NA nonsynonymous SNV GLB1:NM_001135602:exon12:c.T1168C:p.C390R,GLB1:NM_000404:exon15:c.T1561C:p.C521R,GLB1:NM_001079811:exon15:c.T1471C:p.C491R exonic ENSG00000170266 NA nonsynonymous SNV ENSG00000170266:ENST00000307377:exon12:c.T1168C:p.C390R,ENSG00000170266:ENST00000307363:exon15:c.T1561C:p.C521R,ENSG00000170266:ENST00000399402:exon15:c.T1471C:p.C491R,ENSG00000170266:ENST00000445488:exon16:c.T1705C:p.C569R NA NA 3p22.3 NA NA NA NA rs4302331 0.94 0.94 0.934 0.927117 0.998 1 0.9697 0.7413 1 1 1 0.97 0.76 0.98 1 0.6 T 0.0 B 0.0 B 0.522 N 1.000 P . . -3.08 D -0.966 T 0.000 T 0.045 0.262 5.419 1.5 -0.231 0.347 1.786 0.262387 NA 0.6 0.998194 0.797619 NA 0.935 NA 5.3571394 1124 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 1124 3 129140489 129140489 T C exonic EFCAB12 NA synonymous SNV EFCAB12:NM_207307:exon2:c.A207G:p.T69T exonic ENSG00000172771 NA synonymous SNV ENSG00000172771:ENST00000326085:exon2:c.A207G:p.T69T,ENSG00000172771:ENST00000505956:exon2:c.A207G:p.T69T NA NA 3q21.3 NA NA NA NA rs3774788 0.1 0.1 0.087 0.129792 0.1103 0.0298 0.0994 0.2254 0.1452 0.09 0.02 0.12 0.19 0.1004 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 -0.044139 NA NA 0.099156 0.183222 NA 0.29 NA 5.3568106 1124 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=Pol2,NF-YA,RFX5_(N-494),TCF4,YY1_(C-20),IRF1,SP1,c-Fos,NF-YB,YY1 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 1124 3 9970031 9970031 A G exonic IL17RC NA nonsynonymous SNV IL17RC:NM_001203265:exon10:c.A875G:p.Q292R,IL17RC:NM_032732:exon10:c.A875G:p.Q292R,IL17RC:NM_001203263:exon11:c.A920G:p.Q307R,IL17RC:NM_001203264:exon11:c.A920G:p.Q307R,IL17RC:NM_153460:exon11:c.A920G:p.Q307R,IL17RC:NM_153461:exon11:c.A1133G:p.Q378R exonic ENSG00000163702 NA nonsynonymous SNV ENSG00000163702:ENST00000416074:exon9:c.A488G:p.Q163R,ENSG00000163702:ENST00000438091:exon9:c.A800G:p.Q267R,ENSG00000163702:ENST00000383812:exon10:c.A875G:p.Q292R,ENSG00000163702:ENST00000436503:exon10:c.A845G:p.Q282R,ENSG00000163702:ENST00000455057:exon10:c.A875G:p.Q292R,ENSG00000163702:ENST00000295981:exon11:c.A1133G:p.Q378R,ENSG00000163702:ENST00000403601:exon11:c.A920G:p.Q307R,ENSG00000163702:ENST00000413608:exon11:c.A920G:p.Q307R NA NA 3p25.3 NA NA NA NA rs279549 1 1 0.998 0.997404 0.9881 1 0.9986 1 1 0.99 1 1 1 0.9957 1 1 T 0.0 B 0.001 B 0.412 N 1.000 P -0.145 N 2.69 T -0.971 T 0.000 T 0.249 -1.899 0.008 1.66 0.220 -1.010 6.997 -1.899133 NA 1 0.993603 0.998865 NA 0.797 NA 5.3559304 1124 17 40322252 40322252 T C exonic KCNH4 NA synonymous SNV KCNH4:NM_012285:exon8:c.A1263G:p.S421S exonic ENSG00000089558 NA synonymous SNV ENSG00000089558:ENST00000264661:exon8:c.A1263G:p.S421S,ENSG00000089558:ENST00000607371:exon8:c.A1263G:p.S421S NA NA 17q21.2 NA NA NA NA rs939881 0.16 0.16 0.134 0.169529 0.0815 0.3522 0.1412 0.0605 0.2393 0.09 0.36 0.12 0.07 0.1393 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67854 NA NA 0.09 0.067862 NA 0.08 NA 5.3558666 1124 7 4841470 4841470 T C exonic RADIL NA nonsynonymous SNV RADIL:NM_018059:exon12:c.A2656G:p.S886G exonic ENSG00000157927 NA nonsynonymous SNV ENSG00000157927:ENST00000538469:exon11:c.A1936G:p.S646G,ENSG00000157927:ENST00000399583:exon12:c.A2656G:p.S886G NA NA 7p22.1 NA NA NA NA rs414035 1 1 0.993 0.996406 0.9901 1 0.9885 1 1 0.99 1 0.99 1 0.9946 1 0.61 T 0.0 B 0.001 B 0.863 N 1.000 P -1.845 N 3.34 T -0.966 T 0.000 T 0.033 -2.03 0.006 0.203 -1.265 -0.568 12.429 -2.029879 NA 0.55 0.992796 0.999084 NA 0.971 NA 5.3558374 1124 2 10045024 10045024 G A exonic TAF1B NA nonsynonymous SNV TAF1B:NM_005680:exon9:c.G844A:p.V282I exonic ENSG00000115750 NA nonsynonymous SNV ENSG00000115750:ENST00000263663:exon9:c.G844A:p.V282I,ENSG00000115750:ENST00000396242:exon9:c.G79A:p.V27I NA NA 2p25.1 NA NA NA NA rs396190 0.95 0.95 0.937 0.932109 1 1 0.9841 0.7511 1 1 1 0.98 0.8 0.9796 1 . . 0.0 B 0.0 B 0.023 N 1.000 P -0.905 N 4.94 T -1.012 T 0.000 T 0.086 -0.689 1.008 3.27 0.096 0.419 1.793 -0.688668 NA 1 0.997907 0.799818 NA 0.877 NA 5.3558264 1124 7 7646687 7646687 A G exonic MIOS NA synonymous SNV MIOS:NM_019005:exon13:c.A2592G:p.T864T exonic ENSG00000164654 NA synonymous SNV ENSG00000164654:ENST00000405785:exon12:c.A2592G:p.T864T,ENSG00000164654:ENST00000340080:exon13:c.A2592G:p.T864T Score=601;Name=lod=368 NA 7p21.3 Score=848;Name=V$GRE_C NA NA NA rs4222 0.73 0.73 0.704 0.691294 0.7734 0.7381 0.7954 0.5575 0.6656 0.78 0.74 0.78 0.58 0.7518 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 1.088555 NA NA 0.785836 0.618249 NA 0.79 NA 5.3556306 1124 10 134886618 134886618 G C intergenic LOC399829,GPR123 dist=96617;dist=14791 NA NA exonic ENSG00000197177 NA nonsynonymous SNV ENSG00000197177:ENST00000607359:exon3:c.G652C:p.A218P NA NA 10q26.3 NA NA NA NA rs4838684 0.62 0.62 0.642 0.619409 0.4891 0.6538 0.5072 0.8079 0.5429 0.49 0.68 0.54 0.82 0.5495 0.82 0 D 0.0 B 0.0 B 0.027 N 1.000 P . . . . -0.893 T 0.000 T . -0.179 3.126 0.032 -0.456 -0.725 2.524 -0.179382 NA 0 0.439305 0.745016 ID=COSM427276;OCCURENCE=1(breast) 0.507 NA 5.3554284 1124 7 139653196 139653196 A C exonic TBXAS1 NA nonsynonymous SNV TBXAS1:NM_001061:exon6:c.A483C:p.E161D,TBXAS1:NM_030984:exon6:c.A483C:p.E161D,TBXAS1:NM_001166253:exon7:c.A621C:p.E207D,TBXAS1:NM_001166254:exon8:c.A279C:p.E93D,TBXAS1:NM_001130966:exon10:c.A483C:p.E161D exonic ENSG00000059377 NA nonsynonymous SNV ENSG00000059377:ENST00000411653:exon6:c.A480C:p.E160D,ENSG00000059377:ENST00000414508:exon6:c.A483C:p.E161D,ENSG00000059377:ENST00000436047:exon6:c.A483C:p.E161D,ENSG00000059377:ENST00000448866:exon6:c.A480C:p.E160D,ENSG00000059377:ENST00000416849:exon7:c.A621C:p.E207D,ENSG00000059377:ENST00000458722:exon7:c.A618C:p.E206D,ENSG00000059377:ENST00000425687:exon8:c.A279C:p.E93D,ENSG00000059377:ENST00000263552:exon10:c.A483C:p.E161D,ENSG00000059377:ENST00000336425:exon10:c.A480C:p.E160D NA NA 7q34 NA Name=GATA-2 NA NA rs5768 1 1 0.999 0.996805 0.994 0.999 0.9928 1 0.9959 0.99 1 0.99 1 0.9934 1 1 T 0.001 B 0.003 B 0.010 N 0.000 P . . -0.36 T -0.935 T 0.000 T 0.084 -0.094 3.539 -0.525 -0.247 -0.559 1.848 -0.094119 NA 1 0.990581 0.998411 NA 0.993 NA 5.3553524 1125 22 43610106 43610106 C T exonic SCUBE1 NA synonymous SNV SCUBE1:NM_173050:exon16:c.G2043A:p.S681S exonic ENSG00000159307 NA synonymous SNV ENSG00000159307:ENST00000360835:exon16:c.G2043A:p.S681S NA NA 22q13.2 NA NA NA NA rs34893532 0.08 0.08 0.068 0.0680911 0.1054 NA 0.0865 0.1089 0.0317 0.1 NA 0.1 0.1 0.0951 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 -0.0006 NA NA 0.111395 0.108034 NA 0.101 NA 5.3547716 1125 8 10467207 10467207 C A exonic RP1L1 NA nonsynonymous SNV RP1L1:NM_178857:exon4:c.G4401T:p.R1467S exonic ENSG00000183638 NA nonsynonymous SNV ENSG00000183638:ENST00000382483:exon4:c.G4401T:p.R1467S NA NA 8p23.1 NA NA NA NA rs4840498 0.95 0.95 0.943 0.940895 0.998 1 0.987 0.8147 0.9591 1 1 0.99 0.8 0.982 1 1 T 0.0 B 0.0 B 0.404 N 1.000 P -0.695 N 3.79 T -0.979 T 0.000 T 0.017 -0.899 0.441 2.13 -0.022 0.456 0.782 -0.898588 NA 1 0.998691 0.852721 NA 0.949 NA 5.3546424 1125 6 31657413 31657413 T C exonic ABHD16A NA synonymous SNV ABHD16A:NM_001177515:exon10:c.A927G:p.L309L,ABHD16A:NM_021160:exon12:c.A1026G:p.L342L exonic ENSG00000204427 NA synonymous SNV ENSG00000204427:ENST00000440843:exon10:c.A927G:p.L309L,ENSG00000204427:ENST00000375842:exon12:c.A369G:p.L123L,ENSG00000204427:ENST00000395952:exon12:c.A1026G:p.L342L Score=612;Name=lod=409 NA 6p21.33 NA Name=CTCF_(SC-5916),CTCF_(C-20),CTCF,SMC3_(ab9263),CTCFL_(SC-98982),ZBTB7A_(SC-34508),Rad21 NA NA rs1475865 0.81 0.81 0.801 0.816094 0.7724 0.9732 0.8285 0.6823 0.8712 0.78 0.96 0.83 0.7 0.7967 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 3.154375 3.154375 NA 0.743448 0.689404 NA 0.812 NA 5.3541186 1125 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 1125 8 124824826 124824826 G A exonic FAM91A1 NA nonsynonymous SNV FAM91A1:NM_144963:exon24:c.G2399A:p.C800Y exonic ENSG00000176853 NA nonsynonymous SNV ENSG00000176853:ENST00000334705:exon24:c.G2399A:p.C800Y NA NA 8q24.13 NA NA NA NA rs1946586 0.9 0.9 0.996 0.998203 0.993 1 1 0.9985 1 0.9 0.92 0.93 0.83 0.9953 1 1 T 0.0 B 0.0 B 0.306 N 1.000 P 0 N 1.58 T -0.751 T 0.000 T 0.058 -2.63 0 -11.8 -2.022 -0.630 20.100 -2.629812 NA 1 0.991176 0.999456 NA 0.935 NA 5.3538574 1125 20 35422936 35422936 G T exonic SOGA1 NA synonymous SNV SOGA1:NM_080627:exon14:c.C3549A:p.G1183G,SOGA1:NM_199181:exon14:c.C2835A:p.G945G exonic ENSG00000149639 NA synonymous SNV ENSG00000149639:ENST00000456801:exon10:c.C2358A:p.G786G,ENSG00000149639:ENST00000237536:exon14:c.C3549A:p.G1183G,ENSG00000149639:ENST00000279034:exon14:c.C2835A:p.G945G,ENSG00000149639:ENST00000357779:exon14:c.C2835A:p.G945G NA NA 20q11.23 NA NA NA NA rs35707272 0.06 0.06 0.046 0.0423323 0.1272 NA 0.0807 0.0106 0.0143 0.13 NA 0.1 0.01 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 -1.60244 NA NA 0.111673 0.020051 NA 0.036 NA 5.3535936 1125 5 101575091 101575091 C T exonic SLCO4C1 NA synonymous SNV SLCO4C1:NM_180991:exon12:c.G1878A:p.G626G exonic ENSG00000173930 NA synonymous SNV ENSG00000173930:ENST00000310954:exon12:c.G1878A:p.G626G Score=454;Name=lod=93 NA 5q21.1 NA NA NA NA rs62370437 0.35 0.35 0.353 0.329673 0.4592 0.2589 0.2738 0.3434 0.2904 0.45 0.28 0.29 0.33 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 1.032954 NA NA 0.45685 0.360645 NA 0.391 NA 5.3531166 1125 1 150970577 150970577 G T exonic FAM63A NA nonsynonymous SNV FAM63A:NM_001040217:exon8:c.C728A:p.T243K,FAM63A:NM_001163259:exon8:c.C869A:p.T290K,FAM63A:NM_001163260:exon8:c.C728A:p.T243K,FAM63A:NM_001163258:exon9:c.C1298A:p.T433K,FAM63A:NM_018379:exon9:c.C1154A:p.T385K exonic ENSG00000143409 NA nonsynonymous SNV ENSG00000143409:ENST00000312210:exon8:c.C728A:p.T243K,ENSG00000143409:ENST00000493834:exon8:c.C869A:p.T290K,ENSG00000143409:ENST00000361738:exon9:c.C1298A:p.T433K,ENSG00000143409:ENST00000361936:exon9:c.C1154A:p.T385K NA NA 1q21.3 NA NA NA NA rs2925741 0.95 0.95 0.951 0.943291 0.998 1 0.9856 0.7943 1 1 1 0.98 0.8 0.983 1 1 T 0.0 B 0.001 B 0.067 N 1.000 P 0.345 N 0.96 T -1.008 T 0.018 T 0.274 -0.603 1.309 3.1 0.691 0.717 9.653 -0.602801 NA 0.83 0.999419 0.831139 NA 0.942 NA 5.3529144 1125 5 33549387 33549387 G A exonic ADAMTS12 NA synonymous SNV ADAMTS12:NM_030955:exon21:c.C4227T:p.A1409A exonic ENSG00000151388 NA synonymous SNV ENSG00000151388:ENST00000352040:exon19:c.C3972T:p.A1324A,ENSG00000151388:ENST00000504830:exon21:c.C4227T:p.A1409A NA NA 5p13.3 NA NA NA NA rs61748195 0.04 0.04 0.05 0.04373 0.1093 NA 0.0519 0.0189 0.0491 0.09 NA 0.04 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 0.913618 NA NA 0.118023 0.032456 ID=COSM185960;OCCURENCE=1(large_intestine) 0.065 NA 5.3527436 1125 10 115451781 115451781 C T exonic CASP7 NA synonymous SNV CASP7:NM_033338:exon2:c.C51T:p.N17N exonic ENSG00000165806 NA synonymous SNV ENSG00000165806:ENST00000369321:exon2:c.C51T:p.N17N NA NA 10q25.3 NA NA NA NA rs12358524 0.07 0.07 0.062 0.0708866 0.1093 0.1071 0.0447 0.0197 0.0818 0.1 0.11 0.05 0.01 0.0896 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 0.015595 NA NA 0.115116 0.036768 NA 0.109 NA 5.3526506 1125 8 144671685 144671685 G C exonic EEF1D NA nonsynonymous SNV EEF1D:NM_001130053:exon3:c.C567G:p.D189E,EEF1D:NM_032378:exon3:c.C567G:p.D189E exonic ENSG00000104529 NA nonsynonymous SNV ENSG00000104529:ENST00000532741:exon1:c.C717G:p.D239E,ENSG00000104529:ENST00000526710:exon2:c.C567G:p.D189E,ENSG00000104529:ENST00000531281:exon2:c.C567G:p.D189E,ENSG00000104529:ENST00000423316:exon3:c.C567G:p.D189E,ENSG00000104529:ENST00000442189:exon3:c.C567G:p.D189E,ENSG00000104529:ENST00000532596:exon3:c.C567G:p.D189E NA NA 8q24.3 NA NA NA NA rs6985081 0.94 0.94 0.939 0.936901 0.998 1 0.9813 0.7723 1 1 1 0.98 0.75 0.9833 1 0.94 T 0.0 B 0.0 B 0.977 N 0.000 P -1.39 N . . -0.989 T 0.000 T 0.066 -1.495 0.017 3.54 0.388 -0.156 7.218 -1.494859 NA 1 0.999534 0.796296 NA 0.891 NA 5.3524994 1125 15 72432583 72432583 A G exonic SENP8 NA nonsynonymous SNV SENP8:NM_001166340:exon2:c.A619G:p.T207A,SENP8:NM_145204:exon2:c.A619G:p.T207A,SENP8:NM_001172109:exon3:c.A619G:p.T207A,SENP8:NM_001172110:exon3:c.A619G:p.T207A,SENP8:NM_001172111:exon3:c.A619G:p.T207A exonic ENSG00000166192 NA nonsynonymous SNV ENSG00000166192:ENST00000340912:exon2:c.A619G:p.T207A,ENSG00000166192:ENST00000542035:exon2:c.A619G:p.T207A,ENSG00000166192:ENST00000544171:exon3:c.A619G:p.T207A,ENSG00000166192:ENST00000544411:exon3:c.A619G:p.T207A NA NA 15q23 Score=888;Name=V$OCT1_03 NA NA NA rs930871 0.95 0.95 0.946 0.947883 0.998 1 0.987 0.8109 1 1 1 0.99 0.79 0.9851 1 0.77 T 0.0 B 0.0 B 0.003 N 1.000 P -0.38 N 0.97 T -0.991 T 0.000 T 0.014 -1.889 0.008 0.976 0.039 0.810 2.848 -1.889319 NA 1 0.999185 0.849932 NA 0.949 NA 5.3510484 1125 2 136396300 136396300 T C intronic R3HDM1 NA NA NA intronic ENSG00000048991 NA NA NA Score=514;Name=lod=163 NA 2q21.3 Score=790;Name=V$MEIS1AHOXA9_01 NA NA NA rs2278731 0.31 0.31 0.316 0.307508 0.2336 0.4603 0.2666 0.2519 0.3303 0.23 0.46 0.28 0.28 0.2399 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.49185 3.49185 NA 0.175698 0.199047 NA 0.225 NA 5.350802 1125 12 51696500 51696500 G A exonic BIN2 NA synonymous SNV BIN2:NM_016293:exon4:c.C282T:p.D94D exonic ENSG00000110934 NA synonymous SNV ENSG00000110934:ENST00000604560:exon3:c.C201T:p.D67D,ENSG00000110934:ENST00000267012:exon4:c.C282T:p.D94D,ENSG00000110934:ENST00000452142:exon4:c.C282T:p.D94D,ENSG00000110934:ENST00000544402:exon4:c.C204T:p.D68D NA NA 12q13.13 NA NA NA NA rs7975715 0.16 0.16 0.168 0.141573 0.0984 0.2282 0.1037 0.1982 0.047 0.1 0.23 0.12 0.2 0.1102 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.418019 NA NA 0.107442 0.169542 NA 0.094 NA 5.3506246 1125 2 220494118 220494118 A C exonic SLC4A3 NA nonsynonymous SNV SLC4A3:NM_005070:exon4:c.A470C:p.H157P,SLC4A3:NM_201574:exon4:c.A470C:p.H157P exonic ENSG00000114923 NA nonsynonymous SNV ENSG00000114923:ENST00000273063:exon4:c.A470C:p.H157P,ENSG00000114923:ENST00000317151:exon4:c.A470C:p.H157P,ENSG00000114923:ENST00000358055:exon4:c.A470C:p.H157P,ENSG00000114923:ENST00000373760:exon4:c.A470C:p.H157P,ENSG00000114923:ENST00000373762:exon4:c.A470C:p.H157P,ENSG00000114923:ENST00000425141:exon4:c.A470C:p.H157P NA NA 2q35 NA NA NA NA rs597306 0.96 0.96 0.934 0.954673 1 1 0.9841 0.8374 0.999 1 1 0.98 0.84 0.9838 1 1 T 0.0 B 0.0 B 0.013 N 1.000 P -1.385 N 1.61 T -0.917 T 0.000 T 0.146 -2.434 0.003 4.11 0.681 0.897 12.257 -2.434424 NA 1 0.999069 0.851886 NA 0.848 NA 5.3504644 1125 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 1125 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=FOXA2_(SC-6554),SP1 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 1125 17 4699552 4699552 G A exonic PSMB6 NA synonymous SNV PSMB6:NM_001270481:exon1:c.G63A:p.A21A,PSMB6:NM_002798:exon1:c.G63A:p.A21A exonic ENSG00000142507 NA synonymous SNV ENSG00000142507:ENST00000270586:exon1:c.G63A:p.A21A,ENSG00000142507:ENST00000571309:exon1:c.G54A:p.A18A NA NA 17p13.2 NA Name=POU2F2,p300,TAF7_(SQ-8),USF1_(SC-8983),Pol2,Pol2(phosphoS2),GATA-1,BCLAF1_(M33-P5B11),HEY1,Pol2-4H8,TAF1,NFKB,NRSF,Oct-2,TCF4,YY1_(C-20),ZNF263,YY1,TBP NA NA rs3169950 0.3 0.3 0.296 0.269169 0.4125 0.0982 0.4078 0.2368 0.2434 0.44 0.08 0.42 0.26 0.4654 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.198214 2.198214 NA 0.438999 0.30643 NA 0.413 NA 5.3497676 1125 11 47431728 47431728 A G exonic SLC39A13 NA nonsynonymous SNV SLC39A13:NM_001128225:exon2:c.A83G:p.E28G,SLC39A13:NM_152264:exon2:c.A83G:p.E28G exonic ENSG00000165915 NA nonsynonymous SNV ENSG00000165915:ENST00000524928:exon1:c.A83G:p.E28G,ENSG00000165915:ENST00000354884:exon2:c.A83G:p.E28G,ENSG00000165915:ENST00000362021:exon2:c.A83G:p.E28G,ENSG00000165915:ENST00000526614:exon2:c.A83G:p.E28G,ENSG00000165915:ENST00000527091:exon2:c.A83G:p.E28G,ENSG00000165915:ENST00000531419:exon2:c.A83G:p.E28G,ENSG00000165915:ENST00000531865:exon2:c.A83G:p.E28G,ENSG00000165915:ENST00000531974:exon2:c.A83G:p.E28G,ENSG00000165915:ENST00000533076:exon2:c.A83G:p.E28G NA NA 11p11.2 NA NA NA NA rs2010519 0.94 0.94 0.93 0.940495 0.999 1 0.9928 0.7791 1 1 0.99 0.99 0.77 0.9854 1 1 T 0.0 B 0.0 B 0.008 N 1.000 P -0.55 N 0.93 T -0.918 T 0.000 T 0.257 -1.411 0.022 4.21 0.549 0.643 2.159 -1.411281 NA 0.64 0.999184 0.83667 NA 0.891 NA 5.3497494 1125 5 122727026 122727026 G A exonic CEP120 NA synonymous SNV CEP120:NM_001166226:exon7:c.C738T:p.H246H,CEP120:NM_153223:exon8:c.C816T:p.H272H exonic ENSG00000168944 NA synonymous SNV ENSG00000168944:ENST00000306467:exon7:c.C816T:p.H272H,ENSG00000168944:ENST00000306481:exon7:c.C738T:p.H246H,ENSG00000168944:ENST00000508442:exon7:c.C738T:p.H246H,ENSG00000168944:ENST00000513565:exon7:c.C816T:p.H272H,ENSG00000168944:ENST00000328236:exon8:c.C816T:p.H272H,ENSG00000168944:ENST00000395431:exon8:c.C816T:p.H272H Score=584;Name=lod=315 NA 5q23.2 NA NA NA NA rs6876883 0.49 0.49 0.496 0.461262 0.4483 0.506 0.4207 0.4697 0.4458 0.49 0.52 0.41 0.51 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 0.460864 NA NA 0.429043 0.465293 NA 0.5 NA 5.3495236 1125 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 1125 11 60285575 60285575 A G exonic MS4A13 NA nonsynonymous SNV MS4A13:NM_001012417:exon3:c.A19G:p.I7V,MS4A13:NM_001100909:exon3:c.A19G:p.I7V exonic ENSG00000204979 NA nonsynonymous SNV ENSG00000204979:ENST00000527948:exon2:c.A19G:p.I7V,ENSG00000204979:ENST00000378185:exon3:c.A19G:p.I7V,ENSG00000204979:ENST00000378186:exon3:c.A19G:p.I7V,ENSG00000204979:ENST00000437058:exon3:c.A19G:p.I7V NA NA 11q12.2 NA NA NA NA rs10736706 0.95 0.95 0.936 0.947284 1 0.999 0.9885 0.8071 1 1 1 0.99 0.79 0.985 1 1 T 0.0 B 0.0 B 0.534 N 1.000 P -1.115 N 4.42 T -0.966 T 0.000 T 0.013 -2.583 0 -2.11 -0.233 0.024 0.908 -2.583428 NA 1 0.999186 0.846346 NA 0.942 NA 5.3491474 1125 20 61048549 61048549 G A exonic GATA5 NA synonymous SNV GATA5:NM_080473:exon3:c.C609T:p.D203D exonic ENSG00000130700 NA synonymous SNV ENSG00000130700:ENST00000252997:exon3:c.C609T:p.D203D Score=615;Name=lod=421 NA 20q13.33 NA NA NA NA rs41305803 0.42 0.42 0.408 0.388179 0.4404 0.3403 0.438 0.4501 0.2648 0.44 0.35 0.41 0.47 0.4429 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.158836 NA NA 0.434373 0.42369 NA 0.435 NA 5.3489936 1125 14 107035142 107035142 G A intergenic LINC00221,NONE dist=83613;dist=NONE NA NA exonic ENSG00000211966 NA synonymous SNV ENSG00000211966:ENST00000390626:exon1:c.C21T:p.L7L NA NA 14q32.33 NA Name=Pol2 NA NA rs61732461 0.07 0.07 0.041 0.0213658 0.0507 0.001 0.0303 NA 0.0348 0.08 0.04 0.12 0.02 0.1004 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 -0.331918 NA NA NA NA NA 0.072 NA 5.3489 1125 7 1131394 1131394 G A exonic GPER NA synonymous SNV GPER:NM_001098201:exon2:c.G30A:p.V10V,GPER:NM_001505:exon2:c.G30A:p.V10V,GPER:NM_001039966:exon3:c.G30A:p.V10V exonic ENSG00000164850 NA synonymous SNV ENSG00000164850:ENST00000297469:exon2:c.G30A:p.V10V,ENSG00000164850:ENST00000397088:exon2:c.G30A:p.V10V,ENSG00000164850:ENST00000401670:exon2:c.G30A:p.V10V,ENSG00000164850:ENST00000397092:exon3:c.G30A:p.V10V,ENSG00000164850:ENST00000413368:exon3:c.G30A:p.V10V NA NA 7p22.3 NA NA NA NA rs34497267 0.07 0.07 0.07 0.0800719 0.1113 0.0704 0.1052 0.0219 0.1186 0.09 0.05 0.11 0.02 0.0945 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 0.214426 NA NA 0.112093 0.033137 NA 0.058 NA 5.3487736 1125 9 114454580 114454580 A G exonic C9orf84 NA nonsynonymous SNV C9orf84:NM_001080551:exon23:c.T3368C:p.I1123T,C9orf84:NM_173521:exon25:c.T3485C:p.I1162T exonic ENSG00000165181 NA nonsynonymous SNV ENSG00000165181:ENST00000394777:exon22:c.T3263C:p.I1088T,ENSG00000165181:ENST00000394779:exon23:c.T3368C:p.I1123T,ENSG00000165181:ENST00000318737:exon25:c.T3485C:p.I1162T,ENSG00000165181:ENST00000374287:exon27:c.T3485C:p.I1162T NA NA 9q31.3 NA NA NA NA rs1475110 1 1 1 0.998403 0.992 1 1 1 1 0.99 1 1 1 0.9969 1 1 T 0.0 B 0.0 B 0.842 N 1.000 P -0.695 N 3.76 T -1.006 T 0.000 T 0.01 -3.087 0.001 3.2 0.611 0.428 3.281 -3.086936 NA 1 0.996163 0.999773 NA 1 NA 5.3482704 1125 2 220405321 220405321 T C exonic CHPF NA nonsynonymous SNV CHPF:NM_001195731:exon4:c.A626G:p.Q209R,CHPF:NM_024536:exon4:c.A1112G:p.Q371R exonic ENSG00000123989 NA nonsynonymous SNV ENSG00000123989:ENST00000243776:exon4:c.A1112G:p.Q371R,ENSG00000123989:ENST00000535926:exon4:c.A626G:p.Q209R NA NA 2q35 NA NA NA NA rs6436155 0.96 0.96 0.964 0.961462 1 0.9385 0.9683 0.9191 0.998 1 0.93 0.98 0.92 0.9857 1 0.81 T 0.0 B 0.001 B 0.027 N 1.000 P -1.24 N 2.47 T -0.999 T 0.000 T 0.03 -2.211 0.005 2.6 0.635 0.865 2.888 -2.210843 NA 0.87 0.999535 0.934635 NA 0.978 NA 5.3480984 1125 1 152192687 152192687 T C exonic HRNR NA nonsynonymous SNV HRNR:NM_001009931:exon3:c.A1418G:p.E473G exonic ENSG00000197915 NA nonsynonymous SNV ENSG00000197915:ENST00000368801:exon3:c.A1418G:p.E473G NA NA 1q21.3 NA NA NA NA rs6587648 0.96 0.96 0.936 0.942492 1 1 0.9841 0.7905 1 1 1 0.99 0.81 0.9857 1 0.98 T 0.0 B 0.0 B . . 1.000 P -0.345 N 4.63 T -0.989 T 0.001 T 0.04 0.314 5.7 -0.456 -0.599 -1.274 6.671 0.313716 NA 0.32 0.999651 0.854063 NA 0.906 NA 5.3479824 1125 4 70898907 70898907 C T exonic HTN3 NA synonymous SNV HTN3:NM_000200:exon5:c.C126T:p.G42G exonic ENSG00000205649 NA synonymous SNV ENSG00000205649:ENST00000381057:exon4:c.C96T:p.G32G,ENSG00000205649:ENST00000526767:exon5:c.C126T:p.G42G,ENSG00000205649:ENST00000530128:exon5:c.C126T:p.G42G NA NA 4q13.3 NA NA NA NA rs1849937 0.11 0.11 0.095 0.11242 0.1143 0.2024 0.1614 0.0151 0.1145 0.1 0.17 0.12 0.02 0.1078 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.558291 NA NA 0.096628 0.034271 ID=COSM1131070;OCCURENCE=1(prostate) 0.08 NA 5.3479386 1125 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 1125 11 61505168 61505168 G A exonic DAGLA NA synonymous SNV DAGLA:NM_006133:exon15:c.G1524A:p.A508A exonic ENSG00000134780 NA synonymous SNV ENSG00000134780:ENST00000257215:exon15:c.G1524A:p.A508A Score=556;Name=lod=243 NA 11q12.2 NA NA NA NA rs198444 0.53 0.53 0.543 0.491414 0.4284 0.7986 0.4986 0.3631 0.408 0.44 0.83 0.47 0.38 0.4531 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 1.217409 NA NA 0.438125 0.360127 NA 0.5 NA 5.3470416 1125 5 150942919 150942919 A G exonic FAT2 NA nonsynonymous SNV FAT2:NM_001447:exon2:c.T3541C:p.Y1181H exonic ENSG00000086570 NA nonsynonymous SNV ENSG00000086570:ENST00000261800:exon2:c.T3541C:p.Y1181H NA NA 5q33.1 NA NA NA NA rs6872614 1 1 0.997 0.998403 0.995 1 0.9971 1 0.999 0.99 1 0.99 1 0.9969 1 0.21 T 0.0 B 0.0 B 0.062 N 1.000 P -0.865 N 4.68 T -1.012 T 0.000 T 0.019 1.374 10.52 1.9 0.204 2.744 5.100 1.373869 1.373869 0.68 0.994651 0.998865 NA 0.993 NA 5.3467824 1125 8 39080632 39080632 C G exonic ADAM32 NA nonsynonymous SNV ADAM32:NM_145004:exon14:c.C1400G:p.T467S exonic ENSG00000197140 NA nonsynonymous SNV ENSG00000197140:ENST00000437682:exon11:c.C1103G:p.T368S,ENSG00000197140:ENST00000519315:exon12:c.C1082G:p.T361S,ENSG00000197140:ENST00000379907:exon14:c.C1400G:p.T467S NA NA 8p11.22 NA NA NA NA rs7845771 0.96 0.96 0.95 0.958267 0.999 1 0.9928 0.8464 1 1 1 1 0.83 0.9887 1 0.83 T 0.0 B 0.01 B 0.617 N 1.000 P -0.515 N 2.84 T -0.922 T 0.000 T 0.049 -1.071 0.172 -3.45 -0.820 -0.770 17.742 -1.070542 NA 0.94 0.999029 0.880137 NA 0.638 NA 5.3466044 1125 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 1125 12 108003911 108003911 T C intronic BTBD11 NA NA NA ncRNA_exonic ENSG00000257579 NA NA NA NA NA 12q23.3 NA Name=CtBP2 Name=4 NA rs4964599 0.99 0.99 0.996 0.993211 0.9881 1 0.9914 0.9992 0.9847 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 0.528164 NA NA NA NA NA 0.92 NA 5.3452333 1125 14 101531854 101531854 A G ncRNA_exonic MIR412 NA NA NA ncRNA_exonic ENSG00000199012 NA NA NA Score=439;Name=lod=81 NA 14q32.31 Score=791;Name=V$CMYB_01 NA NA NA rs61992671 0.23 0.23 0.208 0.189097 0.492 0.0437 0.2594 0.0189 0.2076 0.49 0.04 0.28 0.03 0.348 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.838699 2.838699 NA 0.481435 0.110332 NA 0.297 NA 5.3452316 1126 8 27918057 27918057 T C exonic NUGGC NA nonsynonymous SNV NUGGC:NM_001010906:exon8:c.A983G:p.Q328R exonic ENSG00000189233 NA nonsynonymous SNV ENSG00000189233:ENST00000341513:exon8:c.A983G:p.Q328R,ENSG00000189233:ENST00000413272:exon8:c.A983G:p.Q328R NA NA 8p21.1 NA NA NA NA rs7817227 0.97 0.97 0.959 0.965655 1 1 0.9914 0.8744 1 1 1 0.99 0.87 0.99 1 0.46 T 0.0 B 0.0 B 0.005 N 1.000 P -1.155 N -3.85 D -0.956 T 0.000 T 0.014 -1.075 0.167 1.29 0.072 0.513 7.386 -1.075053 NA 0.38 0.998683 0.889279 NA 0.949 NA 5.3446504 1126 3 72495777 72495777 C G upstream RYBP NA NA NA exonic ENSG00000163602 NA unknown UNKNOWN NA NA 3p13 NA Name=Sin3Ak-20 Name=59 NA rs13066407 0.99 0.99 0.987 0.980831 1 1 0.9942 0.9304 1 1 1 0.99 0.95 0.9896 1 . . . . . . . . . . . . . . -1.014 T 0.000 T . -0.278 2.667 -3.45 -0.681 -0.733 0.635 -0.278469 NA NA 0.999513 0.936243 NA 0.884 NA 5.3442203 1126 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 1126 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 1126 14 58937416 58937416 T C exonic KIAA0586 NA nonsynonymous SNV KIAA0586:NM_001244193:exon14:c.T2108C:p.L703P,KIAA0586:NM_014749:exon16:c.T2300C:p.L767P,KIAA0586:NM_001244191:exon17:c.T2273C:p.L758P,KIAA0586:NM_001244190:exon18:c.T2483C:p.L828P,KIAA0586:NM_001244192:exon18:c.T2396C:p.L799P,KIAA0586:NM_001244189:exon19:c.T2687C:p.L896P exonic ENSG00000100578 NA nonsynonymous SNV ENSG00000100578:ENST00000261244:exon16:c.T2300C:p.L767P,ENSG00000100578:ENST00000423743:exon18:c.T2396C:p.L799P,ENSG00000100578:ENST00000556134:exon18:c.T2483C:p.L828P,ENSG00000100578:ENST00000354386:exon19:c.T2687C:p.L896P NA NA 14q23.1 NA NA NA NA rs1748986 0.98 0.98 0.981 0.968251 0.999 0.9841 0.987 0.8994 1 1 0.98 0.99 0.92 0.9916 1 0.22 T 0.001 B 0.002 B 0.506 N 1.000 P 0.06 N 0.85 T -0.952 T 0.000 T 0.064 -0.527 1.6 2.02 0.195 -0.133 7.892 -0.526854 NA 0.16 0.99927 0.928685 NA 0.993 NA 5.3434634 1126 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 1126 2 20403794 20403794 A T exonic SDC1 NA nonsynonymous SNV SDC1:NM_002997:exon3:c.T407A:p.L136Q,SDC1:NM_001006946:exon4:c.T407A:p.L136Q exonic ENSG00000115884 NA nonsynonymous SNV ENSG00000115884:ENST00000254351:exon3:c.T407A:p.L136Q,ENSG00000115884:ENST00000403076:exon3:c.T407A:p.L136Q,ENSG00000115884:ENST00000429035:exon3:c.T431A:p.L144Q,ENSG00000115884:ENST00000381150:exon4:c.T407A:p.L136Q NA NA 2p24.1 NA NA NA NA rs10205485 0.97 0.97 0.973 0.966853 1 1 0.9885 0.8805 1 1 1 0.98 0.87 0.9902 1 0 D 0.0 B 0.0 B 0.986 N 1.000 P -1.1 N 2.25 T -0.991 T 0.000 T 0.284 -1.084 0.158 -1.31 -0.580 -0.844 4.529 -1.084333 NA 0.33 0.999767 0.895824 NA 0.964 NA 5.3433664 1126 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 1126 19 23837365 23837365 A C exonic ZNF675 NA nonsynonymous SNV ZNF675:NM_138330:exon4:c.T370G:p.L124V exonic ENSG00000197372 NA nonsynonymous SNV ENSG00000197372:ENST00000359788:exon4:c.T370G:p.L124V,ENSG00000197372:ENST00000599535:exon4:c.T163G:p.L55V NA NA 19p12 NA NA NA NA rs4380159 0.97 0.97 0.971 0.971246 1 1 0.9914 0.8964 0.999 1 1 0.99 0.89 0.9908 1 1 T 0.0 B 0.0 B . . 1.000 P -1.22 N 3.34 T -1.008 T 0.000 T 0.061 -2.624 0 -0.447 -1.023 -0.845 2.564 -2.623684 NA 1 0.999767 0.89764 NA 0.949 NA 5.3427664 1126 5 151771817 151771817 C T exonic NMUR2 NA nonsynonymous SNV NMUR2:NM_020167:exon4:c.G1183A:p.A395T exonic ENSG00000132911 NA nonsynonymous SNV ENSG00000132911:ENST00000255262:exon4:c.G1183A:p.A395T NA NA 5q33.1 NA NA NA NA rs1363422 1 1 0.998 0.998203 0.995 1 0.9957 1 0.999 0.99 1 1 1 0.9984 1 0.98 T 0.0 B 0.0 B 0.029 N 1.000 P -1.155 N -0.48 T -0.947 T 0.000 T 0.049 -0.898 0.443 1.97 0.018 0.977 8.017 -0.89778 NA 1 0.997209 0.999319 NA 1 NA 5.3427244 1126 12 9016573 9016573 A G exonic A2ML1 NA nonsynonymous SNV A2ML1:NM_144670:exon29:c.A3686G:p.H1229R exonic ENSG00000166535 NA nonsynonymous SNV ENSG00000166535:ENST00000539547:exon18:c.A2213G:p.H738R,ENSG00000166535:ENST00000541459:exon18:c.A2336G:p.H779R,ENSG00000166535:ENST00000299698:exon29:c.A3686G:p.H1229R NA NA 12p13.31 NA NA NA NA rs10219561 0.98 0.98 0.969 0.967851 1 1 0.9885 0.8843 1 1 1 0.99 0.9 0.9911 1 0.13 T 0.0 B 0.0 B 0.277 N 1.000 P -2.695 N 1.47 T -0.939 T 0.000 T 0.085 0.788 8.155 -1.05 -0.341 1.303 10.519 0.788166 NA 0.33 0.999515 0.900882 NA 0.826 NA 5.3427184 1126 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 1126 13 24234517 24234517 A G exonic TNFRSF19 NA synonymous SNV TNFRSF19:NM_001204459:exon5:c.A228G:p.S76S,TNFRSF19:NM_001204458:exon7:c.A624G:p.S208S,TNFRSF19:NM_018647:exon7:c.A624G:p.S208S,TNFRSF19:NM_148957:exon7:c.A624G:p.S208S exonic ENSG00000127863 NA synonymous SNV ENSG00000127863:ENST00000403372:exon5:c.A228G:p.S76S,ENSG00000127863:ENST00000248484:exon7:c.A624G:p.S208S,ENSG00000127863:ENST00000382258:exon7:c.A624G:p.S208S,ENSG00000127863:ENST00000382263:exon7:c.A624G:p.S208S NA NA 13q12.12 Score=816;Name=V$HNF4_01_B NA Name=6 NA rs3751364 0.69 0.69 0.648 0.659944 0.7982 0.5893 0.7147 0.5998 0.6329 0.8 0.55 0.74 0.63 0.7359 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.047183 NA NA 0.79 0.641625 NA 0.638 NA 5.3425666 1126 2 27303755 27303755 A G exonic EMILIN1 NA nonsynonymous SNV EMILIN1:NM_007046:exon3:c.A446G:p.Q149R exonic ENSG00000138080 NA nonsynonymous SNV ENSG00000138080:ENST00000380320:exon3:c.A446G:p.Q149R Score=412;Name=lod=63 NA 2p23.3 NA NA NA NA rs2736976 0.97 0.97 0.965 0.96885 0.999 1 0.9841 0.8911 1 1 1 0.98 0.89 0.9928 1 0.9 T 0.0 B 0.0 B 0.593 N 1.000 P -0.55 N 0.06 T -0.986 T 0.000 T 0.032 -1.347 0.029 0.55 -0.045 0.009 6.151 -1.34737 NA 1 0.999185 0.931332 NA 0.935 NA 5.3423484 1126 5 149583336 149583336 T C exonic SLC6A7 NA synonymous SNV SLC6A7:NM_014228:exon9:c.T1194C:p.D398D exonic ENSG00000011083 NA synonymous SNV ENSG00000011083:ENST00000230671:exon9:c.T1194C:p.D398D,ENSG00000011083:ENST00000524041:exon9:c.T1194C:p.D398D Score=487;Name=lod=127 NA 5q32 Score=760;Name=V$PPARA_01 NA NA NA rs2240794 0.76 0.76 0.742 0.79353 0.7584 0.6935 0.7954 0.8858 0.8067 0.74 0.67 0.8 0.86 0.7749 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 0.574369 NA NA 0.791047 0.873355 NA 0.899 NA 5.3423196 1126 11 55563776 55563776 T G exonic OR5D14 NA nonsynonymous SNV OR5D14:NM_001004735:exon1:c.T745G:p.S249A exonic ENSG00000186113 NA nonsynonymous SNV ENSG00000186113:ENST00000335605:exon1:c.T745G:p.S249A NA NA 11q11 Score=812;Name=V$PAX4_01 NA NA NA rs297054 0.97 0.97 0.975 0.970647 1 1 0.9885 0.8956 0.999 1 1 0.99 0.89 0.9919 1 1 T 0.0 B 0.0 B 0.001 N 1.000 P -2.045 N 8.86 T -0.999 T 0.000 T 0.033 -2.569 0.003 1.17 -0.254 0.372 5.435 -2.569484 NA 1 0.999302 0.916364 NA 0.949 NA 5.3421314 1126 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 1126 17 39670912 39670912 G C exonic KRT15 NA nonsynonymous SNV KRT15:NM_002275:exon7:c.C1262G:p.A421G exonic ENSG00000171346 NA nonsynonymous SNV ENSG00000171346:ENST00000393974:exon6:c.C767G:p.A256G,ENSG00000171346:ENST00000254043:exon7:c.C1262G:p.A421G,ENSG00000171346:ENST00000393976:exon9:c.C1262G:p.A421G NA NA 17q21.2 NA NA NA NA rs897420 0.98 0.98 0.975 0.972843 1 1 0.9942 0.9002 1 1 1 0.99 0.9 0.9915 1 0.17 T 0.001 B 0.001 B 0.384 N 1.000 P 0 N -1.35 T -0.971 T 0.000 T 0.13 -0.328 2.445 3.22 0.690 0.541 10.635 -0.327756 NA 0.43 0.999884 0.917839 NA 0.978 NA 5.3419494 1126 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 1126 20 61594679 61594679 A G exonic SLC17A9 NA nonsynonymous SNV SLC17A9:NM_022082:exon6:c.A683G:p.N228S exonic ENSG00000101194 NA nonsynonymous SNV ENSG00000101194:ENST00000370351:exon6:c.A683G:p.N228S,ENSG00000101194:ENST00000370349:exon7:c.A665G:p.N222S Score=520;Name=lod=173 NA 20q13.33 NA NA NA NA rs2427463 0.98 0.98 0.99 0.971446 1 1 0.9928 0.8956 1 1 1 0.99 0.94 0.9917 1 0.52 T 0.0 B 0.004 B 0.390 N 1.000 P -1.335 N 0.48 T -1.021 T 0.000 T 0.028 -2.152 0.005 -1.16 -0.081 0.149 3.863 -2.151531 NA 1 0.99976 0.917212 NA 0.746 NA 5.3418734 1126 5 80504282 80504282 G T ncRNA_intronic RNU5D-1,RNU5E-1 NA NA NA ncRNA_intronic ENSG00000247572 NA NA NA NA NA 5q14.1 NA NA Name=2 NA rs11957258 0.18 0.18 0.198 NA NA NA NA NA NA 0.18 0.13 0.19 0.25 0.1716 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.668369 NA NA 0.153256 0.259646 NA 0.203 NA 5.3418106 1126 12 54975837 54975837 T C exonic PPP1R1A NA nonsynonymous SNV PPP1R1A:NM_006741:exon5:c.A326G:p.E109G exonic ENSG00000135447 NA nonsynonymous SNV ENSG00000135447:ENST00000257905:exon5:c.A326G:p.E109G NA NA 12q13.2 NA NA NA NA rs1249958 0.98 0.98 0.978 0.970847 1 1 0.9942 0.8926 1 1 1 0.99 0.92 0.9922 1 0.76 T 0.0 B 0.0 B 0.150 N 1.000 P -1.795 N 1.41 T -0.992 T 0.000 T 0.035 -0.843 0.566 3.42 0.738 0.396 8.190 -0.843381 NA 1 0.999394 0.908025 NA 0.964 NA 5.3417394 1126 14 23777374 23777374 A G exonic BCL2L2,BCL2L2-PABPN1 NA nonsynonymous SNV BCL2L2:NM_001199839:exon3:c.A398G:p.Q133R,BCL2L2-PABPN1:NM_001199864:exon3:c.A398G:p.Q133R,BCL2L2:NM_004050:exon3:c.A398G:p.Q133R exonic ENSG00000129473,ENSG00000258643 NA nonsynonymous SNV ENSG00000258643:ENST00000557008:exon2:c.A398G:p.Q133R,ENSG00000129473:ENST00000250405:exon3:c.A398G:p.Q133R,ENSG00000258643:ENST00000553781:exon3:c.A398G:p.Q133R,ENSG00000258643:ENST00000556100:exon3:c.A398G:p.Q133R,ENSG00000129473:ENST00000557236:exon3:c.A398G:p.Q133R,ENSG00000129473:ENST00000557579:exon3:c.A398G:p.Q133R NA NA 14q11.2 NA NA NA NA rs910332 1 1 1 0.999401 0.997 1 1 1 1 1 1 1 1 0.9979 1 0.22 T 0.0 B 0.001 B 0.625 N 1.000 P -0.75 N 2.77 T -1.011 T 0.000 T 0.239 -0.202 3.022 1.43 0.102 2.443 8.147 -0.201511 NA 0.37 0.996977 0.999092 NA 1 NA 5.3414564 1126 2 231742711 231742711 T G intronic ITM2C NA NA NA intronic ENSG00000135916 NA NA NA NA NA 2q37.1 NA Name=Max,c-Myc 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 1126 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 1126 21 46898174 46898174 T C intronic COL18A1 NA NA NA intronic ENSG00000182871 NA NA NA NA NA 21q22.3 NA Name=RXRA,YY1_(C-20),Max,Rad21,c-Myc,SMC3_(ab9263),CTCFL_(SC-98982),ZBTB7A_(SC-34508),YY1,HDAC2_(SC-6296),CTCF,E2F6_(H-50),E2F6,FOXA1_(C-20),Pol2,ELF1_(SC-631),Znf143_(16618-1-AP),CTCF_(C-20),CTCF_(SC-5916) Name=124 NA rs2236464 0.24 0.24 0.248 0.248203 0.2137 0.2758 0.2695 0.2148 0.2853 0.2 0.29 0.26 0.25 0.2251 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108447 NA NA 0.220302 0.203035 NA 0.333 NA 5.340898 1126 15 76191802 76191802 G A UTR3 UBE2Q2 NM_173469:c.*3G>A,NM_001145335:c.*3G>A NA NA exonic ENSG00000140367 NA nonsynonymous SNV ENSG00000140367:ENST00000338677:exon10:c.G919A:p.V307M NA NA 15q24.2 NA NA NA NA rs335689 0.98 0.98 0.976 0.980431 1 1 1 0.9274 0.998 1 1 1 0.91 0.9935 1 0 D 0.002 B 0.01 B . . 1.000 P . . . . -1.016 T 0.000 T 0.217 1.181 9.801 -3.2 -0.481 -0.368 4.443 1.180664 NA 0.26 0.999068 0.933773 NA 0.507 NA 5.3407654 1126 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 1126 4 169341435 169341435 A G exonic DDX60L NA nonsynonymous SNV DDX60L:NM_001012967:exon18:c.T2491C:p.C831R exonic ENSG00000181381 NA nonsynonymous SNV ENSG00000181381:ENST00000505863:exon12:c.T1675C:p.C559R,ENSG00000181381:ENST00000260184:exon18:c.T2491C:p.C831R,ENSG00000181381:ENST00000505890:exon18:c.T2491C:p.C831R,ENSG00000181381:ENST00000511577:exon18:c.T2491C:p.C831R NA NA 4q32.3 NA NA NA NA rs2130145 0.99 0.99 0.991 0.985024 0.998 1 0.9942 0.9478 1 1 1 1 0.94 0.9951 1 1 T 0.0 B 0.0 B 0.456 N 1.000 P -2.58 N 2.59 T -1.004 T 0.000 T 0.322 -1.745 0.01 1.53 0.140 1.179 6.381 -1.745034 NA 1 0.999756 0.949677 NA 0.971 NA 5.3404774 1126 19 23927468 23927468 A G exonic ZNF681 NA nonsynonymous SNV ZNF681:NM_138286:exon4:c.T884C:p.L295S exonic ENSG00000196172 NA nonsynonymous SNV ENSG00000196172:ENST00000395385:exon3:c.T677C:p.L226S,ENSG00000196172:ENST00000402377:exon4:c.T884C:p.L295S NA NA 19p12 NA NA NA NA rs1818989 0.98 0.98 0.978 0.977236 1 1 0.9942 0.9175 0.999 1 1 0.99 0.91 0.993 1 1 T 0.0 B 0.0 B . . 1.000 P -1.87 N 2.68 T -1.023 T 0.000 T 0.027 -2.238 0.005 1.64 0.029 -0.988 6.017 -2.237645 NA 1 0.999884 0.924648 NA 0.957 NA 5.3404494 1126 9 104449063 104449063 C T exonic GRIN3A NA synonymous SNV GRIN3A:NM_133445:exon2:c.G1119A:p.G373G exonic ENSG00000198785 NA synonymous SNV ENSG00000198785:ENST00000361820:exon2:c.G1119A:p.G373G Score=612;Name=lod=410 NA 9q31.1 Score=860;Name=V$BRN2_01 NA NA NA rs2506354 0.7 0.7 0.733 0.71865 0.7913 0.4315 0.7133 0.8669 0.7434 0.8 0.43 0.7 0.86 0.7538 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.907119 NA NA 0.781163 0.836586 ID=COSM1179841;OCCURENCE=1(prostate) 0.739 NA 5.3404036 1126 19 23927252 23927252 C T exonic ZNF681 NA nonsynonymous SNV ZNF681:NM_138286:exon4:c.G1100A:p.R367K exonic ENSG00000196172 NA nonsynonymous SNV ENSG00000196172:ENST00000395385:exon3:c.G893A:p.R298K,ENSG00000196172:ENST00000402377:exon4:c.G1100A:p.R367K NA NA 19p12 NA NA NA NA rs1818990 0.92 0.92 0.977 0.977236 1 1 0.9942 0.9175 0.999 0.94 0.96 0.96 0.83 0.9933 1 1 T 0.001 B 0.002 B . . 1.000 P -0.57 N 2.15 T -0.977 T 0.000 T 0.022 -1.958 0.007 1.64 -0.078 -1.472 1.761 -1.957898 NA 1 0.999884 0.925193 NA 0.768 NA 5.3401494 1126 9 19076673 19076673 G C exonic HAUS6 NA synonymous SNV HAUS6:NM_001270890:exon11:c.C1116G:p.P372P,HAUS6:NM_017645:exon11:c.C1221G:p.P407P exonic ENSG00000147874 NA synonymous SNV ENSG00000147874:ENST00000380496:exon8:c.C813G:p.P271P,ENSG00000147874:ENST00000380502:exon11:c.C1221G:p.P407P Score=488;Name=lod=128 NA 9p22.1 NA NA NA NA rs13286328 0.38 0.38 0.335 0.361022 0.4493 0.3681 0.4049 0.2163 0.4274 0.43 0.4 0.44 0.23 0.4232 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.655948 NA NA 0.45407 0.238992 NA 0.319 NA 5.3400966 1126 1 24018277 24018277 C G UTR5 RPL11 NM_000975:c.-37C>G,NM_001199802:c.-37C>G NA NA UTR5 ENSG00000142676 ENST00000374550:c.-37C>G NA NA Score=433;Name=lod=77 NA 1p36.11 Score=936;Name=V$ELK1_02 Name=YY1,WHIP,GABP,SP2_(SC-643),MEF2A,PU.1,Pol2-4H8,eGFP-JunB,CTCF_(SC-5916),TAF1,Pol2(b),RFX5_(N-494),HMGN3,ELK4,BCL3,Znf143_(16618-1-AP),NFKB,Egr-1,TBP,IRF4_(M-17),SMC3_(ab9263),CTCFL_(SC-98982),GATA-1,BCLAF1_(M33-P5B11),ELF1_(SC-631),HEY1,ZNF263,KAP1,NELFe,GTF2F1_(RAP-74),ETS1,Oct-2,GATA2_(CG2-96),c-Myc,Rad21,IRF1,p300_(N-15),SP1,Nrf1,SRF,Pol2,Max,YY1_(C-20),Pol2(phosphoS2),POU2F2,NRSF,CTCF,GTF2B,Sin3Ak-20,TCF12,E2F4,SIX5,TAF7_(SQ-8) Name=148 NA rs10917413 0.96 0.96 0.978 0.976837 0.999 0.996 0.9957 0.9213 0.9959 0.97 0.98 0.99 0.9 0.9946 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.577883 1.577883 NA 0.999651 0.953019 NA 0.978 NA 5.3400824 1126 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 1126 2 190595258 190595258 G T exonic ANKAR NA nonsynonymous SNV ANKAR:NM_144708:exon16:c.G3231T:p.L1077F exonic ENSG00000151687 NA nonsynonymous SNV ENSG00000151687:ENST00000313581:exon15:c.G3231T:p.L1077F,ENSG00000151687:ENST00000431575:exon15:c.G3018T:p.L1006F,ENSG00000151687:ENST00000520309:exon16:c.G3231T:p.L1077F NA NA 2q32.2 NA NA NA NA rs1225090 0.99 0.99 0.989 0.983427 1 1 0.9942 0.9402 1 1 1 0.99 0.95 0.9939 1 0.71 T 0.0 B 0.001 B 0.578 N 1.000 P -0.345 N 2.25 T -1.024 T 0.000 T 0.024 -2.394 0.003 -1.14 -0.624 -1.304 1.827 -2.394453 NA 0.7 0.999651 0.937131 NA 0.978 NA 5.3397824 1126 6 18139214 18139214 G A exonic TPMT NA synonymous SNV TPMT:NM_000367:exon6:c.C474T:p.I158I exonic ENSG00000137364 NA synonymous SNV ENSG00000137364:ENST00000309983:exon6:c.C474T:p.I158I NA NA 6p22.3 Score=830;Name=V$PBX1_02 Name=CTCF NA NA rs2842934 0.77 0.77 0.772 0.752995 0.7763 0.7619 0.7767 0.8101 0.6258 0.78 0.75 0.75 0.8 0.7633 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 0.975127 NA NA 0.787326 0.807902 NA 0.659 NA 5.3397406 1126 18 14105923 14105923 T C exonic ZNF519 NA nonsynonymous SNV ZNF519:NM_145287:exon3:c.A616G:p.K206E exonic ENSG00000175322 NA nonsynonymous SNV ENSG00000175322:ENST00000590202:exon3:c.A616G:p.K206E NA NA 18p11.21 NA NA NA NA rs2159940 0.98 0.98 0.975 0.980232 1 1 0.9928 0.9289 1 1 1 0.99 0.93 0.9942 1 1 T 0.063 B 0.012 B . . 1.000 P -1.415 N . . -0.985 T 0.000 T 0.027 -2.317 0.004 -0.517 -1.530 0.310 5.240 -2.317293 NA NA 0.999766 0.939263 NA 0.935 NA 5.3393674 1126 2 190531426 190531426 G A exonic ASNSD1 NA nonsynonymous SNV ASNSD1:NM_019048:exon4:c.G568A:p.G190R exonic ENSG00000138381 NA nonsynonymous SNV ENSG00000138381:ENST00000420250:exon3:c.G568A:p.G190R,ENSG00000138381:ENST00000260952:exon4:c.G568A:p.G190R NA NA 2q32.2 NA NA NA NA rs1437880 0.99 0.99 0.984 0.983027 0.999 0.998 0.9986 0.9387 1 1 1 1 0.94 0.9951 1 0.56 T 0.0 B 0.0 B 0.185 N 1.000 P 0.115 N 1.54 T -1.013 T 0.000 T 0.521 -2.153 0.005 1.09 -0.050 1.750 6.506 -2.153027 NA 0.83 1 0.951203 NA 0.971 NA 5.3392334 1126 20 33867924 33867924 G A intronic EIF6 NA NA NA intronic ENSG00000242372 NA NA NA Score=697;Name=lod=905 NA 20q11.22 NA Name=Pol2 NA NA rs2250205 0.22 0.22 0.217 0.267372 0.2018 0.2242 0.1383 0.3487 0.3609 0.21 0.19 0.17 0.31 0.2441 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.322741 NA NA 0.215 0.347708 NA 0.283 NA 5.3391 1126 7 64291991 64291991 T A exonic ZNF138 NA nonsynonymous SNV ZNF138:NM_006524:exon3:c.T293A:p.F98Y,ZNF138:NM_001271638:exon4:c.T275A:p.F92Y,ZNF138:NM_001271639:exon4:c.T371A:p.F124Y exonic ENSG00000197008 NA nonsynonymous SNV ENSG00000197008:ENST00000397136:exon2:c.T200A:p.F67Y,ENSG00000197008:ENST00000440155:exon3:c.T293A:p.F98Y,ENSG00000197008:ENST00000307355:exon4:c.T371A:p.F124Y,ENSG00000197008:ENST00000359735:exon4:c.T200A:p.F67Y,ENSG00000197008:ENST00000437743:exon4:c.T275A:p.F92Y NA NA 7q11.21 NA NA NA NA rs4236203 0.98 0.98 0.978 0.980631 1 1 0.9957 0.9304 0.998 1 1 1 0.93 0.9947 1 1 T 0.0 B 0.0 B . . 1.000 P -0.9 N 3.47 T -0.991 T 0.000 T 0.104 -2.282 0.004 0.85 -1.214 -0.660 2.805 -2.282001 NA 1 0.999767 0.943787 NA 0.986 NA 5.3388664 1126 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 1126 10 33123824 33123824 G C exonic C10orf68 NA nonsynonymous SNV C10orf68:NM_024688:exon14:c.G1163C:p.G388A exonic ENSG00000150076 NA nonsynonymous SNV ENSG00000150076:ENST00000375028:exon12:c.G1091C:p.G364A,ENSG00000150076:ENST00000375025:exon13:c.G1271C:p.G424A,ENSG00000150076:ENST00000302316:exon14:c.G1163C:p.G388A,ENSG00000150076:ENST00000375030:exon15:c.G1040C:p.G347A NA NA 10p11.22 NA NA NA NA rs4448627 0.99 0.99 0.979 0.983626 1 1 0.9914 0.9425 1 1 1 0.99 0.95 0.9948 1 0.84 T 0.0 B 0.001 B . . 1.000 P -0.205 N 1.31 T -1.002 T 0.000 T 0.014 -2.396 0.003 -0.987 -0.620 -1.445 4.126 -2.395615 NA 1 0.999767 0.94804 NA 0.971 NA 5.3387664 1126 5 110819753 110819753 G C exonic CAMK4 NA synonymous SNV CAMK4:NM_001744:exon11:c.G1011C:p.S337S exonic ENSG00000152495 NA synonymous SNV ENSG00000152495:ENST00000282356:exon11:c.G1011C:p.S337S,ENSG00000152495:ENST00000512453:exon12:c.G1011C:p.S337S Score=459;Name=lod=98 NA 5q22.1 Score=788;Name=V$HTF_01 NA NA NA rs25925 0.75 0.75 0.73 0.733027 0.7793 0.5268 0.7233 0.9697 0.5849 0.78 0.54 0.78 0.94 0.76 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 1.490381 1.490381 NA 0.788672 0.94346 NA 0.717 NA 5.3386946 1126 2 27351948 27351948 T G exonic ABHD1 NA nonsynonymous SNV ABHD1:NM_032604:exon3:c.T411G:p.D137E exonic ENSG00000143994 NA nonsynonymous SNV ENSG00000143994:ENST00000416071:exon2:c.T222G:p.D74E,ENSG00000143994:ENST00000420647:exon2:c.T222G:p.D74E,ENSG00000143994:ENST00000316470:exon3:c.T411G:p.D137E,ENSG00000143994:ENST00000448950:exon3:c.T411G:p.D137E NA NA 2p23.3 NA Name=Pol2 NA NA rs6715286 0.99 0.99 0.979 0.983427 1 1 0.9971 0.9387 1 1 1 1 0.94 0.9952 1 0.39 T 0.0 B 0.001 B 0.002 N 1.000 P -0.39 N 3.2 T -1.039 T 0.000 T 0.073 -0.475 1.809 1.94 -0.032 0.092 3.78 -0.475035 NA 1 0.999767 0.951657 NA 0.978 NA 5.3383664 1126 5 145439647 145439647 T C exonic SH3RF2 NA nonsynonymous SNV SH3RF2:NM_152550:exon9:c.T1774C:p.W592R exonic ENSG00000156463 NA nonsynonymous SNV ENSG00000156463:ENST00000511217:exon8:c.T1774C:p.W592R,ENSG00000156463:ENST00000359120:exon9:c.T1774C:p.W592R NA NA 5q32 NA NA NA NA rs2962525 0.98 0.98 0.978 0.980831 1 1 0.9986 0.9281 1 1 1 1 0.93 0.9951 1 0.78 T 0.0 B 0.0 B 0.000 N 1.000 P -1.905 N 2.44 T -0.994 T 0.000 T 0.211 -2.444 0.003 3.16 0.387 0.689 8.447 -2.444055 NA 1 0.999884 0.945983 NA 0.978 NA 5.3383494 1126 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 1126 8 11418773 11418773 C T intronic BLK NA NA NA intronic ENSG00000136573 NA NA NA NA NA 8p23.1 NA NA NA NA rs4841561 0.52 0.52 0.475 0.503994 0.3231 0.9276 0.5187 0.3427 0.4611 0.33 0.93 0.46 0.37 0.4804 0.93 0.16 T 0.759 P 0.435 B . . 1.000 P . . . . -1.009 T 0.000 T 0.019 2.551 14.49 -0.823 -0.088 -0.950 0.049 2.550652 2.550652 NA 0.358256 0.364214 NA 0.399 NA 5.338244 1126 5 137717265 137717265 G A exonic KDM3B NA nonsynonymous SNV KDM3B:NM_016604:exon6:c.G766A:p.A256T exonic ENSG00000120733 NA nonsynonymous SNV ENSG00000120733:ENST00000510866:exon5:c.G574A:p.A192T,ENSG00000120733:ENST00000314358:exon6:c.G766A:p.A256T NA NA 5q31.2 NA NA NA NA rs6865472 0.99 0.99 0.988 0.978435 1 1 0.9957 0.9206 1 1 1 1 0.95 0.9951 1 0.58 T 0.0 B 0.0 B 0.785 N 1.000 P 0.345 N 0.15 T -1.016 T 0.000 T 0.151 0.531 6.877 -2.75 -0.739 -0.674 5.506 0.531183 NA 0.66 1 0.947798 NA 0.986 NA 5.3382334 1126 11 121491782 121491782 G A exonic SORL1 NA nonsynonymous SNV SORL1:NM_003105:exon44:c.G5899A:p.V1967I exonic ENSG00000137642 NA nonsynonymous SNV ENSG00000137642:ENST00000527934:exon15:c.G1744A:p.V582I,ENSG00000137642:ENST00000532694:exon21:c.G2437A:p.V813I,ENSG00000137642:ENST00000534286:exon21:c.G2629A:p.V877I,ENSG00000137642:ENST00000525532:exon24:c.G2731A:p.V911I,ENSG00000137642:ENST00000260197:exon44:c.G5899A:p.V1967I NA NA 11q24.1 NA NA NA NA rs1792120 0.99 0.99 0.982 0.979433 1 1 0.9928 0.9259 1 1 1 0.99 0.94 0.9953 1 1 T 0.0 B 0.003 B 0.002 N 1.000 P 0.425 N 0.17 T -0.903 T 0.000 T 0.103 0.485 6.629 0.391 -0.150 1.658 11.215 0.48455 NA 1 0.999884 0.950954 NA 0.986 NA 5.3381494 1126 15 54306925 54306925 G A exonic UNC13C NA nonsynonymous SNV UNC13C:NM_001080534:exon1:c.G1825A:p.G609S exonic ENSG00000137766 NA nonsynonymous SNV ENSG00000137766:ENST00000260323:exon1:c.G1825A:p.G609S,ENSG00000137766:ENST00000537900:exon1:c.G1825A:p.G609S,ENSG00000137766:ENST00000545554:exon1:c.G1825A:p.G609S NA NA 15q21.3 NA NA NA NA rs12437941 0.99 0.99 0.989 0.983227 1 1 0.9928 0.9402 1 1 1 1 0.96 0.9954 1 0.69 T 0.0 B 0.0 B . . 1.000 P 0 N -1.05 T -0.967 T 0.000 T 0.042 -3.049 0.001 0.513 -0.080 1.089 11.029 -3.048931 NA 1 0.99988 0.953529 NA 1 NA 5.3380534 1126 19 43013363 43013363 A G exonic CEACAM1 NA synonymous SNV CEACAM1:NM_001184813:exon8:c.T1191C:p.Y397Y,CEACAM1:NM_001184815:exon9:c.T1284C:p.Y428Y,CEACAM1:NM_001712:exon9:c.T1479C:p.Y493Y exonic ENSG00000079385 NA synonymous SNV ENSG00000079385:ENST00000351134:exon6:c.T657C:p.Y219Y,ENSG00000079385:ENST00000352591:exon8:c.T1191C:p.Y397Y,ENSG00000079385:ENST00000161559:exon9:c.T1479C:p.Y493Y,ENSG00000079385:ENST00000358394:exon9:c.T1284C:p.Y428Y NA NA 19q13.2 NA NA NA NA rs11666350 0.15 0.15 0.14 0.157548 0.0964 0.2123 0.255 0.1256 0.138 0.1 0.21 0.19 0.14 0.1378 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298598 NA NA 0.094419 0.106219 NA 0.13 NA 5.3380476 1126 16 46655210 46655210 A G exonic SHCBP1 NA nonsynonymous SNV SHCBP1:NM_024745:exon1:c.T62C:p.M21T exonic ENSG00000171241 NA nonsynonymous SNV ENSG00000171241:ENST00000303383:exon1:c.T62C:p.M21T NA NA 16q11.2 NA Name=TAF7_(SQ-8),E2F6,POU2F2,FOSL2,Pol2,Pol2(phosphoS2),HA-E2F1,ELF1_(SC-631),HEY1,ETS1,Pbx3,TAF1,RFX5_(N-494),HMGN3,NFKB,Pol2-4H8,Sin3Ak-20,E2F4,Mxi1_(bHLH),PAX5-C20,Max,YY1_(C-20),Oct-2,SP1,GTF2F1_(RAP-74),TBP,CCNT2,YY1,c-Fos,NF-YB NA NA rs6598679 0.99 0.99 0.984 0.983427 1 1 0.9957 0.9395 1 1 1 0.99 0.95 0.9955 1 0.86 T 0.0 B 0.0 B 0.164 N 1.000 P 0 N 2.06 T -1.005 T 0.000 T 0.041 -1.266 0.046 -0.124 -0.121 -0.334 3.327 -1.265789 NA 1 0.999882 0.950575 NA 0.957 NA 5.3379514 1126 11 1857173 1857173 T C exonic SYT8 NA nonsynonymous SNV SYT8:NM_138567:exon4:c.T358C:p.C120R exonic ENSG00000149043 NA nonsynonymous SNV ENSG00000149043:ENST00000341958:exon3:c.T316C:p.C106R,ENSG00000149043:ENST00000381968:exon4:c.T358C:p.C120R,ENSG00000149043:ENST00000535046:exon4:c.T772C:p.C258R,ENSG00000149043:ENST00000436964:exon5:c.T316C:p.C106R NA NA 11p15.5 NA NA NA NA rs564271 0.98 0.98 0.978 0.983227 1 1 0.9942 0.9395 1 1 1 1 0.91 0.9957 1 0.83 T 0.0 B 0.0 B . . 1.000 P -1.92 N 3.3 T -0.993 T 0.000 T 0.565 -2.249 0.004 -0.072 -0.159 -1.036 0.677 -2.24897 NA 0.87 0.999767 0.952997 NA 1 NA 5.3378664 1126 12 10149851 10149851 C T exonic CLEC1B NA nonsynonymous SNV CLEC1B:NM_001099431:exon2:c.G92A:p.G31D,CLEC1B:NM_016509:exon3:c.G191A:p.G64D exonic ENSG00000165682 NA nonsynonymous SNV ENSG00000165682:ENST00000348658:exon2:c.G92A:p.G31D,ENSG00000165682:ENST00000298527:exon3:c.G191A:p.G64D,ENSG00000165682:ENST00000428126:exon4:c.G92A:p.G31D NA NA 12p13.2 NA NA NA NA rs583903 0.99 0.99 0.983 0.984824 1 1 0.9957 0.9448 1 1 1 1 0.94 0.9959 1 . . 0.0 B 0.001 B 0.367 N 1.000 P 0 N 5.06 T -1.064 T 0.000 T 0.019 -2.121 0.005 -2.33 -0.808 -0.745 0.249 -2.120702 NA 0.41 0.999634 0.953501 NA 0.957 NA 5.3377994 1126 10 16967401 16967401 C T exonic CUBN NA nonsynonymous SNV CUBN:NM_001081:exon43:c.G6485A:p.C2162Y exonic ENSG00000107611 NA nonsynonymous SNV ENSG00000107611:ENST00000377833:exon43:c.G6485A:p.C2162Y NA NA 10p13 NA NA NA NA rs1276712 1 1 1 0.993411 1 0.999 0.9539 1 1 1 1 0.98 1 0.9958 1 1 T 0.0 B 0.0 B 0.555 N 1.000 P -0.6 N 2.29 T -0.930 T 0.000 T 0.037 -1.478 0.018 -6.18 -0.897 0.073 14.721 -1.477932 NA 1 0.999767 0.999319 NA 1 NA 5.3377664 1126 12 10570965 10570965 C G exonic KLRC3 NA nonsynonymous SNV KLRC3:NM_002261:exon4:c.G464C:p.C155S,KLRC3:NM_007333:exon4:c.G464C:p.C155S exonic ENSG00000205810,ENSG00000255641 NA nonsynonymous SNV ENSG00000205810:ENST00000381903:exon4:c.G464C:p.C155S,ENSG00000205810:ENST00000381904:exon4:c.G464C:p.C155S,ENSG00000205810:ENST00000396439:exon4:c.G464C:p.C155S,ENSG00000255641:ENST00000539033:exon4:c.G464C:p.C155S NA NA 12p13.2 Score=854;Name=V$OCT1_Q6 NA NA NA rs2682495 0.99 0.99 0.99 0.986821 1 1 0.9928 0.9539 1 1 1 0.99 0.96 0.9956 1 0.46 T 0.0 B 0.002 B 0.907 N 1.000 P -2.045 N 2.7 T -1.013 T 0.000 T 0.037 -2.145 0.005 -0.134 -0.361 -0.466 3.157 -2.145051 NA 0.61 1 0.955969 NA 1 NA 5.3377334 1126 12 10603670 10603670 T C exonic KLRC1 NA nonsynonymous SNV KLRC1:NM_002259:exon2:c.A86G:p.N29S,KLRC1:NM_007328:exon2:c.A86G:p.N29S,KLRC1:NM_213657:exon3:c.A86G:p.N29S,KLRC1:NM_213658:exon3:c.A86G:p.N29S exonic ENSG00000134545 NA nonsynonymous SNV ENSG00000134545:ENST00000347831:exon2:c.A86G:p.N29S,ENSG00000134545:ENST00000359151:exon2:c.A86G:p.N29S,ENSG00000134545:ENST00000408006:exon3:c.A86G:p.N29S,ENSG00000134545:ENST00000536188:exon3:c.A86G:p.N29S,ENSG00000134545:ENST00000544822:exon3:c.A86G:p.N29S NA NA 12p13.2 NA NA NA NA rs2253849 0.99 0.99 0.988 0.987021 1 1 0.9928 0.9546 1 1 1 0.99 0.96 0.9957 1 1 T 0.0 B 0.0 B 0.356 N 1.000 P -1.315 N 3.66 T -1.021 T 0.000 T 0.042 -1.435 0.02 3.06 0.412 -0.019 7.126 -1.435018 NA 1 1 0.957104 NA 1 NA 5.3376334 1126 12 59282702 59282702 T C exonic LRIG3 NA synonymous SNV LRIG3:NM_001136051:exon6:c.A522G:p.T174T,LRIG3:NM_153377:exon6:c.A702G:p.T234T exonic ENSG00000139263 NA synonymous SNV ENSG00000139263:ENST00000552267:exon5:c.A423G:p.T141T,ENSG00000139263:ENST00000320743:exon6:c.A702G:p.T234T,ENSG00000139263:ENST00000379141:exon6:c.A522G:p.T174T,ENSG00000139263:ENST00000433272:exon6:c.A702G:p.T234T NA NA 12q14.1 NA NA NA NA rs17533647 0.06 0.06 0.052 0.0611022 0.1163 0.0397 0.0461 0.0129 0.1022 0.11 0.02 0.04 0.03 0.0972 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 0.864964 NA NA 0.115698 0.033591 NA 0.029 NA 5.3374686 1126 12 52635241 52635241 G A intronic KRT7 NA NA NA intronic ENSG00000135480 NA NA NA NA NA 12q13.13 Score=804;Name=V$OLF1_01 NA Name=20 NA rs2078201 0.24 0.24 0.232 0.189696 0.2376 0.12 0.1499 0.2171 0.2035 0.26 0.23 0.18 0.25 0.2093 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.328842 NA NA 0.215698 0.221516 NA 0.167 NA 5.337402 1126 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 1126 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 1126 12 14829893 14829893 A C exonic GUCY2C NA nonsynonymous SNV GUCY2C:NM_004963:exon7:c.T843G:p.F281L exonic ENSG00000070019 NA nonsynonymous SNV ENSG00000070019:ENST00000261170:exon7:c.T843G:p.F281L NA NA 12p12.3 NA NA NA NA rs1420635 0.99 0.99 0.986 0.986222 1 1 0.9986 0.9486 1 1 1 1 0.96 0.9962 1 0.31 T 0.011 B 0.015 B 0.000 D 0.999 P 1.01 L -0.69 T -1.005 T 0.000 T 0.435 0.423 6.299 -1.85 -0.576 0.120 10.192 0.423279 NA 0.08 1 0.962097 NA 0.928 NA 5.3371334 1126 11 66328095 66328095 T C exonic ACTN3 NA unknown UNKNOWN exonic ENSG00000248746 NA unknown UNKNOWN Score=443;Name=lod=84 NA 11q13.2 NA NA NA NA rs1815739 0.63 0.63 0.618 0.599241 0.5656 0.5565 0.428 0.885 0.4131 0.57 0.57 0.47 0.89 0.548 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 1.865328 1.865328 NA 0.549462 0.82105 NA 0.543 CLINSIG=non-pathogenic|pathogenic|other;CLNDBN=ACTININ\x2c_ALPHA-3_POLYMORPHISM|Actn3_deficiency|Sprinting_performance;CLNREVSTAT=single|single|single;CLNACC=RCV000019974.1|RCV000019975.26|RCV000019976.27;CLNDSDB=.|.|.;CLNDSDBID=.|.|. 5.336938 1126 3 121263720 121263720 C A exonic POLQ NA nonsynonymous SNV POLQ:NM_199420:exon2:c.G197T:p.R66I exonic ENSG00000051341 NA nonsynonymous SNV ENSG00000051341:ENST00000264233:exon2:c.G197T:p.R66I NA NA 3q13.33 NA NA NA NA rs702017 0.99 0.99 0.99 0.988618 1 1 0.9986 0.9576 1 1 1 1 0.96 0.9964 1 0.29 T 0.0 B 0.0 B 0.572 N 1.000 P -1.245 N 0.86 T -0.988 T 0.000 T 0.062 1.16 9.723 -2.11 -0.845 0.439 11.088 1.160304 NA 0.34 1 0.966409 NA 0.986 NA 5.3369334 1126 7 71142219 71142219 C T exonic WBSCR17 NA synonymous SNV WBSCR17:NM_022479:exon9:c.C1428T:p.D476D exonic ENSG00000185274 NA synonymous SNV ENSG00000185274:ENST00000333538:exon9:c.C1428T:p.D476D NA NA 7q11.22 NA NA NA NA rs61740246 0.06 0.06 0.057 0.0469249 0.1133 0.001 0.0735 0.0045 0.0644 0.12 0.0017 0.08 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 0.975186 NA NA 0.122558 0.024285 NA 0.051 NA 5.3369086 1126 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 1126 9 5557672 5557672 T C exonic PDCD1LG2 NA nonsynonymous SNV PDCD1LG2:NM_025239:exon5:c.T686C:p.F229S exonic ENSG00000197646 NA nonsynonymous SNV ENSG00000197646:ENST00000397745:exon4:c.T416C:p.F139S,ENSG00000197646:ENST00000397747:exon5:c.T686C:p.F229S NA NA 9p24.1 NA NA Name=7 NA rs7854303 1 1 0.997 0.997804 0.998 1 0.9971 0.9947 1 1 1 0.99 1 0.9992 1 0.62 T 0.0 B 0.0 B 0.724 N 1.000 P -0.975 N 5.16 T -1.036 T 0.000 T 0.027 -1.094 0.149 0.724 -0.005 -0.680 7.742 -1.094065 NA 0.34 0.999302 0.99773 NA 0.993 NA 5.3368314 1126 1 114424601 114424601 C T exonic BCL2L15 NA nonsynonymous SNV BCL2L15:NM_001010922:exon3:c.G268A:p.D90N exonic ENSG00000188761 NA nonsynonymous SNV ENSG00000188761:ENST00000393316:exon3:c.G268A:p.D90N NA NA 1p13.2 NA NA NA NA rs1217381 1 1 0.997 0.999401 0.997 1 1 1 1 1 1 1 1 0.9999 1 0.98 T 0.001 B 0.002 B 1.000 N 1.000 P 0.895 L 3.61 T -0.919 T 0.003 T 0.004 -1.863 0.008 -0.702 -0.360 -1.532 7.784 -1.862848 NA 1 0.999884 0.999773 NA 1 NA 5.3365494 1126 14 75513883 75513883 T C exonic MLH3 NA nonsynonymous SNV MLH3:NM_001040108:exon2:c.A2476G:p.N826D,MLH3:NM_014381:exon2:c.A2476G:p.N826D exonic ENSG00000119684 NA nonsynonymous SNV ENSG00000119684:ENST00000556740:exon1:c.A2476G:p.N826D,ENSG00000119684:ENST00000238662:exon2:c.A2476G:p.N826D,ENSG00000119684:ENST00000355774:exon2:c.A2476G:p.N826D,ENSG00000119684:ENST00000556257:exon2:c.A2476G:p.N826D NA NA 14q24.3 NA NA Name=46 NA rs175081 0.99 0.99 0.996 0.990415 1 1 0.9928 0.9675 1 1 1 0.99 0.98 0.9968 1 0.85 T 0.001 B 0.0 B 0.345 N 1.000 P 0 N -1.3 T -0.969 T 0.000 T 0.01 -0.93 0.378 1.33 -0.121 0.343 3.716 -0.930026 NA 0.86 1 0.966863 NA 0.993 NA 5.3365334 1126 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=ZNF263,ZBTB7A_(SC-34508),TBP,Pol2(b),ELK4,RXRA,TCF4,HEY1,GABP,Pol2-4H8,NFKB,TAF1,GTF2B,TAF7_(SQ-8),Pol2(phosphoS2),Pol2 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 1126 17 4693170 4693170 T C exonic GLTPD2 NA nonsynonymous SNV GLTPD2:NM_001014985:exon4:c.T455C:p.V152A exonic ENSG00000182327 NA nonsynonymous SNV ENSG00000182327:ENST00000331264:exon4:c.T455C:p.V152A NA NA 17p13.2 NA Name=YY1_(C-20),YY1,ELK4,Egr-1,CTCF,Pol2,Pol2(phosphoS2),HEY1,EBF1_(C-8),TAF1 NA NA rs34850425 0.99 0.99 0.991 0.989018 1 1 1 0.9584 1 1 1 1 0.98 0.9977 1 0.74 T 0.0 B 0.0 B . . 1.000 P -0.69 N . . -1.024 T 0.000 T 0.021 -1.173 0.088 -1.06 -0.620 -0.183 5.055 -1.172563 NA 0.56 0.999518 0.974681 NA 0.594 NA 5.3361154 1126 17 71232804 71232804 C A exonic C17orf80 NA nonsynonymous SNV C17orf80:NM_001100621:exon3:c.C1183A:p.H395N,C17orf80:NM_001100622:exon3:c.C1183A:p.H395N,C17orf80:NM_017941:exon3:c.C1183A:p.H395N exonic ENSG00000141219 NA nonsynonymous SNV ENSG00000141219:ENST00000535032:exon2:c.C1183A:p.H395N,ENSG00000141219:ENST00000255557:exon3:c.C1183A:p.H395N,ENSG00000141219:ENST00000268942:exon3:c.C1183A:p.H395N,ENSG00000141219:ENST00000359042:exon3:c.C1183A:p.H395N,ENSG00000141219:ENST00000426147:exon3:c.C1183A:p.H395N,ENSG00000141219:ENST00000577615:exon3:c.C1183A:p.H395N NA NA 17q25.1 NA NA NA NA rs904384 0.99 0.99 0.991 0.990415 1 1 1 0.9637 1 1 1 1 0.97 0.9975 1 1 T 0.0 B 0.0 B 0.129 N 1.000 P -1.79 N 2.8 T -0.944 T 0.000 T 0.048 0.556 7.009 0.997 -0.334 -1.278 12.387 0.556495 NA 0.38 0.999767 0.977304 NA 0.993 NA 5.3360664 1126 19 38202516 38202516 A C exonic ZNF607 NA nonsynonymous SNV ZNF607:NM_001172677:exon2:c.T4G:p.S2A,ZNF607:NM_032689:exon2:c.T4G:p.S2A exonic ENSG00000198182,ENSG00000267552 NA nonsynonymous SNV ENSG00000198182:ENST00000355202:exon2:c.T4G:p.S2A,ENSG00000198182:ENST00000395835:exon2:c.T4G:p.S2A,ENSG00000198182:ENST00000586559:exon2:c.T4G:p.S2A,ENSG00000267552:ENST00000586606:exon2:c.T4G:p.S2A,ENSG00000198182:ENST00000591664:exon2:c.T4G:p.S2A Score=251;Name=lod=14 NA 19q13.12 NA NA NA NA rs2909097 0.99 0.99 0.998 0.992412 1 0.9692 1 1 0.9928 0.99 0.98 1 1 0.9973 1 1 T 0.0 B 0.001 B . . 1.000 P 0.28 N 3.48 T -0.958 T 0.000 T 0.034 -1.165 0.092 1.88 0.370 -0.304 5.646 -1.165288 NA 1 1 0.999319 NA 0.92 NA 5.3360334 1126 2 227892619 227892619 C T exonic COL4A4 NA synonymous SNV COL4A4:NM_000092:exon42:c.G4080A:p.P1360P exonic ENSG00000081052 NA synonymous SNV ENSG00000081052:ENST00000329662:exon42:c.G4080A:p.P1360P,ENSG00000081052:ENST00000396625:exon42:c.G4080A:p.P1360P Score=371;Name=lod=43 NA 2q36.3 NA NA NA NA rs2228556 0.45 0.45 0.426 0.491813 0.4384 0.4028 0.4769 0.5651 0.5501 0.44 0.4 0.47 0.52 0.47 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.128161 NA NA 0.422268 0.525793 NA 0.464 NA 5.3359986 1126 17 3654980 3654980 A G exonic ITGAE NA synonymous SNV ITGAE:NM_002208:exon15:c.T1857C:p.N619N exonic ENSG00000083457 NA synonymous SNV ENSG00000083457:ENST00000263087:exon15:c.T1857C:p.N619N NA NA 17p13.2 NA NA NA NA rs11652878 0.14 0.14 0.114 0.141374 0.1093 0.1687 0.0908 0.1694 0.1442 0.1 0.2 0.11 0.17 0.1235 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.269331 NA NA 0.098488 0.160009 NA 0.181 NA 5.3353786 1126 1 145103947 145103947 T C exonic SEC22B NA unknown UNKNOWN ncRNA_exonic ENSG00000223380 NA NA NA Score=674;Name=lod=729 NA 1q21.1 NA NA NA NA rs2794062 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4981 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.468382 3.468382 NA NA NA NA 0.5 NA 5.3352333 1126 1 222802006 222802006 A G exonic MIA3 NA nonsynonymous SNV MIA3:NM_198551:exon4:c.A1444G:p.K482E exonic ENSG00000154305 NA nonsynonymous SNV ENSG00000154305:ENST00000344441:exon4:c.A1444G:p.K482E,ENSG00000154305:ENST00000344507:exon4:c.A1444G:p.K482E,ENSG00000154305:ENST00000344922:exon4:c.A1444G:p.K482E NA NA 1q41 NA NA NA NA rs2936053 1 1 0.995 0.995607 1 1 1 0.9834 1 1 1 1 0.99 0.9983 1 1 T 0.0 B 0.0 B . . 1.000 P -1.59 N 1.55 T -0.991 T 0.000 T 0.199 -0.299 2.575 1.63 -0.106 1.465 6.831 -0.298721 NA 1 0.999878 0.977273 NA 1 NA 5.3351554 1126 3 175165079 175165079 C T exonic NAALADL2 NA nonsynonymous SNV NAALADL2:NM_207015:exon6:c.C1153T:p.P385S exonic ENSG00000177694 NA nonsynonymous SNV ENSG00000177694:ENST00000454872:exon6:c.C1153T:p.P385S NA NA 3q26.31 NA NA NA NA rs6802937 1 1 1 1 1 1 1 1 1 1 1 1 1 0.999 1 0.8 T 0.0 B 0.0 B 0.028 N 1.000 P -1.995 N 1.1 T -0.951 T 0.000 T 0.032 -0.993 0.27 4.53 0.420 0.196 1.626 -0.993296 NA 0.67 0.999272 1 NA 1 NA 5.3350614 1126 9 136308542 136308542 C T exonic ADAMTS13 NA synonymous SNV ADAMTS13:NM_139025:exon19:c.C2280T:p.G760G,ADAMTS13:NM_139026:exon19:c.C2187T:p.G729G,ADAMTS13:NM_139027:exon19:c.C2280T:p.G760G exonic ENSG00000160323 NA synonymous SNV ENSG00000160323:ENST00000355699:exon19:c.C2280T:p.G760G,ENSG00000160323:ENST00000356589:exon19:c.C2187T:p.G729G,ENSG00000160323:ENST00000371929:exon19:c.C2280T:p.G760G NA NA 9q34.2 Score=808;Name=V$PAX4_01 NA NA NA rs3124767 0.5 0.5 0.501 0.496805 0.4006 0.8026 0.4755 0.3298 0.5215 0.39 0.8 0.49 0.34 0.5125 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 -1.013905 NA NA 0.418514 0.326107 NA 0.399 NA 5.3350526 1126 1 158619728 158619728 A C exonic SPTA1 NA nonsynonymous SNV SPTA1:NM_003126:exon25:c.T3487G:p.S1163A exonic ENSG00000163554 NA nonsynonymous SNV ENSG00000163554:ENST00000368147:exon25:c.T3487G:p.S1163A,ENSG00000163554:ENST00000368148:exon25:c.T3487G:p.S1163A Score=450;Name=lod=90 NA 1q23.1 NA NA NA NA rs2482965 1 1 0.996 0.994609 1 1 1 0.9796 1 1 1 1 0.99 0.9983 1 0.65 T 0.0 B 0.001 B 0.869 N 1.000 P -0.695 N -0.22 T -1.062 T 0.030 T 0.012 0.295 5.6 -1.91 -0.461 0.176 6.955 0.295459 NA 0.49 1 0.980614 NA 0.964 NA 5.3350334 1126 17 64023642 64023642 A G exonic CEP112 NA synonymous SNV CEP112:NM_001199165:exon16:c.T1633C:p.L545L,CEP112:NM_145036:exon16:c.T1633C:p.L545L exonic ENSG00000154240 NA synonymous SNV ENSG00000154240:ENST00000541355:exon8:c.T538C:p.L180L,ENSG00000154240:ENST00000537949:exon14:c.T1507C:p.L503L,ENSG00000154240:ENST00000392769:exon16:c.T1633C:p.L545L,ENSG00000154240:ENST00000535342:exon16:c.T1633C:p.L545L,ENSG00000154240:ENST00000583358:exon16:c.T1633C:p.L545L Score=472;Name=lod=110 NA 17q24.1 NA NA NA NA rs11079628 0.54 0.54 0.504 0.536342 0.4384 0.873 0.6585 0.233 0.6135 0.44 0.87 0.63 0.24 0.5026 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 0.945165 NA NA 0.390644 0.253159 NA 0.478 NA 5.3350226 1127 2 227896886 227896886 C T exonic COL4A4 NA synonymous SNV COL4A4:NM_000092:exon39:c.G3684A:p.K1228K exonic ENSG00000081052 NA synonymous SNV ENSG00000081052:ENST00000329662:exon39:c.G3684A:p.K1228K,ENSG00000081052:ENST00000396625:exon39:c.G3684A:p.K1228K Score=329;Name=lod=29 NA 2q36.3 NA NA NA NA rs2229812 0.45 0.45 0.408 0.495607 0.4384 0.4028 0.4769 0.5613 0.5746 0.44 0.4 0.47 0.52 0.4716 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.093019 NA NA 0.421795 0.520607 NA 0.471 NA 5.3348716 1127 15 90784207 90784207 A G exonic GDPGP1 NA nonsynonymous SNV GDPGP1:NM_001013657:exon4:c.A67G:p.R23G exonic ENSG00000183208 NA nonsynonymous SNV ENSG00000183208:ENST00000329600:exon1:c.A67G:p.R23G,ENSG00000183208:ENST00000558017:exon4:c.A67G:p.R23G,ENSG00000183208:ENST00000559204:exon4:c.A67G:p.R23G,ENSG00000183208:ENST00000561433:exon5:c.A67G:p.R23G NA NA 15q26.1 NA NA Name=2 NA rs7166441 1 1 1 0.9998 0.999 1 1 1 1 1 1 1 1 0.9999 1 0.45 T 0.0 B 0.0 B 0.750 N 1.000 P -1.565 N 1.93 T -1.014 T 0.000 T 0.422 0.81 8.256 0.179 -0.305 0.213 7.34 0.810034 NA 0.23 0.999767 1 NA 1 NA 5.3346664 1127 1 184663581 184663581 T C exonic EDEM3 NA synonymous SNV EDEM3:NM_025191:exon20:c.A2415G:p.Q805Q exonic ENSG00000116406 NA synonymous SNV ENSG00000116406:ENST00000439962:exon6:c.A759G:p.Q253Q,ENSG00000116406:ENST00000318130:exon20:c.A2415G:p.Q805Q,ENSG00000116406:ENST00000367512:exon21:c.A2334G:p.Q778Q Score=432;Name=lod=76 NA 1q25.3 NA NA NA NA rs9425634 0.41 0.41 0.383 0.422125 0.4324 0.5873 0.3963 0.1906 0.5726 0.44 0.54 0.41 0.22 0.4555 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.020006 NA NA 0.444147 0.240455 NA 0.406 NA 5.3346196 1127 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 1127 1 151820298 151820298 G C exonic THEM5 NA nonsynonymous SNV THEM5:NM_182578:exon5:c.C616G:p.L206V exonic ENSG00000196407 NA nonsynonymous SNV ENSG00000196407:ENST00000368817:exon5:c.C616G:p.L206V NA NA 1q21.3 NA NA NA NA rs6587624 1 1 0.999 0.996605 1 1 0.9986 0.9879 1 1 1 1 0.99 0.9988 1 1 T 0.0 B 0.001 B 0.089 N 1.000 P -0.855 N 2.4 T -0.957 T 0.009 T 0.29 -2.207 0.005 3.13 0.566 0.135 3.983 -2.207025 NA 0.66 1 0.986155 NA 0.986 NA 5.3345334 1127 10 50820345 50820345 C A exonic SLC18A3 NA nonsynonymous SNV SLC18A3:NM_003055:exon1:c.C1559A:p.A520E exonic ENSG00000187714 NA nonsynonymous SNV ENSG00000187714:ENST00000374115:exon1:c.C1559A:p.A520E NA NA 10q11.23 NA NA NA NA rs8187730 1 1 0.994 0.997404 1 1 1 0.9902 1 1 1 1 0.99 0.9989 1 1 T 0.0 B 0.0 B 0.759 N 0.999 P -0.345 N 3.7 T -1.009 T 0.000 T 0.039 -1.465 0.019 -2.77 -0.804 -0.042 6.888 -1.464922 NA 1 1 0.9875 NA 0.993 NA 5.3344334 1127 11 55587511 55587511 A G exonic OR5D18 NA nonsynonymous SNV OR5D18:NM_001001952:exon1:c.A406G:p.N136D exonic ENSG00000186119 NA nonsynonymous SNV ENSG00000186119:ENST00000333976:exon1:c.A406G:p.N136D NA NA 11q11 NA NA NA NA rs297081 1 1 0.998 0.996605 1 1 1 0.9871 1 1 1 1 0.98 0.9989 1 0.06 T 0.008 B 0.002 B 0.141 N 1.000 P 0.46 N 2.14 T -1.059 T 0.000 T 0.007 0.104 4.56 1.9 0.229 -1.171 5.278 0.103976 NA 0.02 1 0.989773 NA 0.978 NA 5.3344334 1127 1 65113568 65113568 T C exonic CACHD1 NA nonsynonymous SNV CACHD1:NM_020925:exon9:c.T1088C:p.M363T exonic ENSG00000158966 NA nonsynonymous SNV ENSG00000158966:ENST00000290039:exon9:c.T1088C:p.M363T,ENSG00000158966:ENST00000371073:exon9:c.T1241C:p.M414T NA NA 1p31.3 NA NA NA NA rs6588100 1 1 0.999 0.997804 1 1 1 0.9917 1 1 1 1 0.99 0.999 1 0.51 T 0.0 B 0.0 B 0.003 N 1.000 P 0 N 2.06 T -0.925 T 0.008 T 0.047 -1.246 0.052 2.3 0.260 0.770 8.775 -1.246164 NA 0.92 1 0.990014 NA 1 NA 5.3343334 1127 2 220037393 220037393 A G exonic CNPPD1 NA nonsynonymous SNV CNPPD1:NM_015680:exon8:c.T1148C:p.L383P exonic ENSG00000115649 NA nonsynonymous SNV ENSG00000115649:ENST00000360507:exon8:c.T1148C:p.L383P,ENSG00000115649:ENST00000409789:exon9:c.T1148C:p.L383P NA NA 2q35 NA NA NA NA rs4674361 0.99 0.99 0.991 0.995208 1 1 1 0.9818 1 1 1 1 0.97 0.999 1 0.94 T 0.0 B 0.0 B 0.031 N 1.000 P -0.345 N 2.48 T -0.962 T 0.000 T 0.109 -0.834 0.588 2.79 0.136 0.285 8.356 -0.834131 NA 0.38 1 0.987063 NA 0.986 NA 5.3343334 1127 11 49974371 49974371 G A exonic OR4C13 NA nonsynonymous SNV OR4C13:NM_001001955:exon1:c.G397A:p.V133I exonic ENSG00000258817 NA nonsynonymous SNV ENSG00000258817:ENST00000555099:exon1:c.G397A:p.V133I NA NA 11p11.12 NA NA NA NA rs28662375 1 1 0.998 0.997404 1 1 1 0.9902 1 1 1 1 0.99 0.9993 1 . . 0.0 B 0.0 B 0.000 N 1.000 P -1.72 N 5.33 T -1.011 T 0.000 T 0.027 -2.791 0 2.95 0.347 0.207 3.421 -2.791176 NA 1 0.999767 0.992503 NA 1 NA 5.3342664 1127 1 110466709 110466709 T C exonic CSF1 NA nonsynonymous SNV CSF1:NM_000757:exon6:c.T1466C:p.F489S,CSF1:NM_172211:exon6:c.T572C:p.F191S,CSF1:NM_172212:exon6:c.T1466C:p.F489S,CSF1:NM_172210:exon7:c.T1118C:p.F373S exonic ENSG00000184371 NA nonsynonymous SNV ENSG00000184371:ENST00000329608:exon6:c.T1466C:p.F489S,ENSG00000184371:ENST00000369802:exon6:c.T1466C:p.F489S,ENSG00000184371:ENST00000420111:exon6:c.T572C:p.F191S,ENSG00000184371:ENST00000344188:exon7:c.T1118C:p.F373S,ENSG00000184371:ENST00000369801:exon7:c.T1118C:p.F373S NA NA 1p13.3 NA NA NA NA rs333971 1 1 0.998 0.996805 1 1 0.9986 0.9887 1 1 1 1 0.99 0.9991 1 1 T 0.002 B 0.001 B 0.090 N 1.000 P -1.87 N 2.96 T -0.915 T 0.002 T 0.124 -1.143 0.108 4.57 0.700 -0.151 9.415 -1.142876 NA 0.38 1 0.990695 NA 0.978 NA 5.3342334 1127 14 72055468 72055468 A C exonic SIPA1L1 NA synonymous SNV SIPA1L1:NM_015556:exon2:c.A879C:p.S293S exonic ENSG00000197555 NA synonymous SNV ENSG00000197555:ENST00000358550:exon2:c.A879C:p.S293S,ENSG00000197555:ENST00000381232:exon2:c.A879C:p.S293S,ENSG00000197555:ENST00000555818:exon2:c.A879C:p.S293S NA NA 14q24.2 Score=755;Name=V$MEF2_04 Name=CEBPB NA NA rs1859643 0.86 0.86 0.863 0.883387 0.7614 0.9355 0.8473 0.9622 0.8742 0.77 0.92 0.83 0.94 0.8164 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 -0.939047 NA NA 0.754651 0.923967 NA 0.812 NA 5.3342156 1127 8 12878637 12878637 A G exonic KIAA1456 NA nonsynonymous SNV KIAA1456:NM_001099677:exon2:c.A71G:p.H24R,KIAA1456:NM_020844:exon5:c.A449G:p.H150R exonic ENSG00000250305 NA nonsynonymous SNV ENSG00000250305:ENST00000524591:exon5:c.A449G:p.H150R Score=481;Name=lod=120 NA 8p22 NA NA NA NA rs528255 1 1 0.998 0.997604 1 1 1 0.9909 1 1 1 1 0.99 0.9992 1 0.69 T 0.0 B 0.001 B 0.011 N 0.001 P -0.39 N 1.05 T -0.958 T 0.000 T 0.027 -1.192 0.077 0.659 -0.063 0.032 12.123 -1.191746 NA 0.98 1 0.991914 NA 0.978 NA 5.3341334 1127 10 135233541 135233541 A G exonic MTG1 NA nonsynonymous SNV MTG1:NM_138384:exon11:c.A877G:p.I293V exonic ENSG00000148824,ENSG00000254536 NA nonsynonymous SNV ENSG00000148824:ENST00000432508:exon9:c.A724G:p.I242V,ENSG00000148824:ENST00000317502:exon11:c.A877G:p.I293V,ENSG00000148824:ENST00000477902:exon11:c.A754G:p.I252V,ENSG00000254536:ENST00000468317:exon12:c.A892G:p.I298V NA NA 10q26.3 NA NA NA NA rs2255246 1 1 0.997 0.997204 1 1 1 0.9894 1 1 1 1 0.99 0.9992 1 1 T 0.0 B 0.001 B 0.221 N 1.000 P -1.275 N 1.67 T -0.965 T 0.000 T 0.039 -2.079 0.006 4.25 0.582 0.789 8.067 -2.07934 NA 1 1 0.990468 NA 0.993 NA 5.3341334 1127 4 100140306 100140306 A T exonic ADH6 NA nonsynonymous SNV ADH6:NM_000672:exon1:c.T4A:p.C2S,ADH6:NM_001102470:exon1:c.T4A:p.C2S exonic ENSG00000172955 NA nonsynonymous SNV ENSG00000172955:ENST00000237653:exon1:c.T4A:p.C2S,ENSG00000172955:ENST00000394897:exon1:c.T4A:p.C2S,ENSG00000172955:ENST00000394899:exon1:c.T4A:p.C2S,ENSG00000172955:ENST00000507484:exon1:c.T4A:p.C2S,ENSG00000172955:ENST00000508558:exon1:c.T4A:p.C2S NA NA 4q23 NA Name=TCF4,TBP,HNF4A_(H-171),p300,HDAC2_(SC-6296),Pol2,FOXA1_(C-20),FOXA1_(SC-101058),HEY1,HNF4G_(SC-6558) NA NA rs4699735 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9997 1 1 T 0.001 B 0.0 B 0.392 N 1.000 P -1.525 N 4.84 T -0.993 T 0.000 T 0.331 -2.243 0.004 0.836 -0.113 0.019 1.845 -2.243175 NA 1 0.999535 1 NA 1 NA 5.3340984 1127 11 55890257 55890257 C T exonic OR8H3 NA nonsynonymous SNV OR8H3:NM_001005201:exon1:c.C409T:p.P137S exonic ENSG00000181761 NA nonsynonymous SNV ENSG00000181761:ENST00000313472:exon1:c.C409T:p.P137S NA NA 11q12.1 NA NA NA NA rs1842691 1 1 1 0.998403 1 1 1 0.9939 1 1 1 1 0.99 0.9994 1 1 T 0.0 B 0.0 B 0.000 N 1.000 P -2.69 N 4.83 T -1.013 T 0.000 T 0.048 -3.073 0.001 2.28 -0.038 0.240 0.932 -3.073259 NA 1 1 0.993639 NA 0.993 NA 5.3339334 1127 17 3458072 3458072 T C exonic TRPV3 NA nonsynonymous SNV TRPV3:NM_001258205:exon2:c.A73G:p.I25V,TRPV3:NM_145068:exon2:c.A73G:p.I25V exonic ENSG00000167723 NA nonsynonymous SNV ENSG00000167723:ENST00000301365:exon2:c.A73G:p.I25V,ENSG00000167723:ENST00000571139:exon2:c.A73G:p.I25V,ENSG00000167723:ENST00000572519:exon2:c.A73G:p.I25V,ENSG00000167723:ENST00000573539:exon2:c.A73G:p.I25V,ENSG00000167723:ENST00000576742:exon2:c.A73G:p.I25V NA NA 17p13.2 NA NA NA NA rs322965 1 1 0.999 0.997204 1 1 1 0.9894 1 1 1 1 0.99 0.9994 1 0.56 T 0.0 B 0.0 B 0.949 N 1.000 P -0.345 N 1.19 T -1.024 T 0.000 T 0.022 -2.292 0.004 -0.188 -0.110 -1.999 5.512 -2.292033 NA 1 1 0.994099 NA 0.993 NA 5.3339334 1127 18 53303101 53303101 C G exonic TCF4 NA nonsynonymous SNV TCF4:NM_001243226:exon1:c.G28C:p.A10P exonic ENSG00000196628 NA nonsynonymous SNV ENSG00000196628:ENST00000398339:exon1:c.G28C:p.A10P,ENSG00000196628:ENST00000565124:exon1:c.G28C:p.A10P NA NA 18q21.2 NA NA NA NA rs611326 1 1 1 0.996805 1 1 0.9986 0.9887 1 1 1 1 1 0.9994 1 1 T 0.0 B 0.0 B . . 1.000 P . . 1.42 T -0.967 T 0.000 T 0.175 -0.247 2.812 0.675 -0.229 1.419 3.318 -0.24673 NA 1 1 0.995986 NA 0.993 NA 5.3339334 1127 12 25261735 25261735 G T exonic CASC1 NA nonsynonymous SNV CASC1:NM_001204101:exon13:c.C1721A:p.A574E,CASC1:NM_001082973:exon15:c.C1898A:p.A633E,CASC1:NM_018272:exon16:c.C1916A:p.A639E,CASC1:NM_001204102:exon17:c.C1778A:p.A593E exonic ENSG00000118307 NA nonsynonymous SNV ENSG00000118307:ENST00000545133:exon13:c.C1721A:p.A574E,ENSG00000118307:ENST00000320267:exon15:c.C1898A:p.A633E,ENSG00000118307:ENST00000395987:exon16:c.C1916A:p.A639E,ENSG00000118307:ENST00000395990:exon17:c.C1778A:p.A593E NA NA 12p12.1 NA NA NA NA rs859146 1 1 0.997 0.996805 1 1 0.9971 0.9894 1 1 1 1 0.99 0.9995 1 1 T 0.0 B 0.0 B 0.065 N 1.000 P -2.045 N 1.68 T -0.982 T 0.000 T 0.314 -1.258 0.048 4.31 0.346 0.488 7.870 -1.258137 NA 1 1 0.995915 NA 1 NA 5.3338334 1127 4 81967188 81967188 C T exonic BMP3 NA nonsynonymous SNV BMP3:NM_001201:exon2:c.C613T:p.L205F exonic ENSG00000152785 NA nonsynonymous SNV ENSG00000152785:ENST00000282701:exon2:c.C613T:p.L205F NA NA 4q21.21 Score=792;Name=V$PBX1_02 NA NA NA rs6831040 1 1 1 0.998802 1 1 1 0.9955 1 1 1 1 1 0.9996 1 0.13 T 0.015 B 0.012 B 0.020 N 1.000 P 1.01 L -0.18 T -1.057 T 0.000 T 0.057 0.009 4.062 -1.34 -0.293 -0.011 2.880 0.00933 NA 0.09 1 0.996823 NA 1 NA 5.3337334 1127 22 41645757 41645757 C G exonic RANGAP1 NA synonymous SNV RANGAP1:NM_002883:exon14:c.G1548C:p.L516L exonic ENSG00000100401 NA synonymous SNV ENSG00000100401:ENST00000407260:exon13:c.G1383C:p.L461L,ENSG00000100401:ENST00000455915:exon13:c.G1548C:p.L516L,ENSG00000100401:ENST00000356244:exon14:c.G1548C:p.L516L,ENSG00000100401:ENST00000405486:exon15:c.G1548C:p.L516L Score=533;Name=lod=195 NA 22q13.2 Score=714;Name=V$HOX13_01 NA NA NA rs71948 0.75 0.75 0.702 0.748602 0.7773 0.7212 0.8386 0.702 0.7464 0.79 0.69 0.84 0.71 0.7772 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 -0.486034 NA NA 0.778488 0.704721 NA 0.732 NA 5.3336786 1127 1 91859795 91859795 T C exonic HFM1 NA nonsynonymous SNV HFM1:NM_001017975:exon4:c.A349G:p.I117V exonic ENSG00000162669 NA nonsynonymous SNV ENSG00000162669:ENST00000427444:exon3:c.A223G:p.I75V,ENSG00000162669:ENST00000370425:exon4:c.A349G:p.I117V,ENSG00000162669:ENST00000455133:exon4:c.A349G:p.I117V NA NA 1p22.2 Score=787;Name=V$HTF_01 NA NA NA rs282009 1 1 0.996 0.999201 1 1 1 0.997 1 1 1 1 0.99 0.9997 1 0.92 T 0.0 B 0.0 B . . 1.000 P -0.895 N 1.71 T -0.972 T 0.015 T 0.05 -2.767 0 1.52 0.131 -0.292 6.966 -2.766938 NA 1 1 0.997276 NA 1 NA 5.3336334 1127 5 177422876 177422876 T C exonic PROP1 NA nonsynonymous SNV PROP1:NM_006261:exon1:c.A59G:p.N20S exonic ENSG00000175325 NA nonsynonymous SNV ENSG00000175325:ENST00000308304:exon1:c.A59G:p.N20S NA NA 5q35.3 NA NA NA NA rs7445271 1 1 0.999 0.999401 1 1 1 0.9977 1 1 1 1 0.99 0.9999 1 0.84 T 0.0 B 0.0 B 0.601 N 1.000 P -0.345 N -2.35 D -0.978 T 0.000 T 0.015 -1.617 0.013 1.48 0.122 -0.489 3.740 -1.617258 NA 1 1 0.999092 NA 0.935 NA 5.3334334 1127 12 2791205 2791205 A G exonic CACNA1C NA nonsynonymous SNV CACNA1C:NM_001129830:exon43:c.A5534G:p.K1845R,CACNA1C:NM_001167624:exon43:c.A5534G:p.K1845R,CACNA1C:NM_199460:exon45:c.A5678G:p.K1893R exonic ENSG00000151067 NA nonsynonymous SNV ENSG00000151067:ENST00000327702:exon43:c.A5534G:p.K1845R,ENSG00000151067:ENST00000399617:exon43:c.A5534G:p.K1845R NA NA 12p13.33 NA NA NA NA rs10774054 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 0.88 T 0.0 B 0.0 B . . 1.000 P 1.445 L -3.76 D -0.880 T 0.000 T 0.009 -1.687 0.012 -1.63 -0.785 0.066 0.989 -1.68662 NA 1 1 0.999362 NA 0.986 NA 5.3334334 1127 22 36623731 36623731 T C exonic APOL2 NA nonsynonymous SNV APOL2:NM_030882:exon5:c.A733G:p.I245V,APOL2:NM_145637:exon6:c.A733G:p.I245V exonic ENSG00000128335 NA nonsynonymous SNV ENSG00000128335:ENST00000358502:exon5:c.A733G:p.I245V,ENSG00000128335:ENST00000249066:exon6:c.A733G:p.I245V,ENSG00000128335:ENST00000451256:exon6:c.A1069G:p.I357V NA NA 22q12.3 NA NA NA NA rs132760 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 0.45 T 0.0 B 0.001 B 0.749 N 1.000 P -0.705 N 4.02 T -1.062 T 0.000 T 0.023 -0.859 0.529 -1.47 -0.413 -0.172 3.187 -0.858682 NA 0.68 NA NA NA 1 NA 5.3334334 1127 1 166944538 166944538 A C UTR5 ILDR2 NM_199351:c.-33T>G NA NA UTR5 ENSG00000143195 ENST00000271417:c.-33T>G,ENST00000526687:c.-33T>G,ENST00000529071:c.-33T>G,ENST00000469934:c.-33T>G,ENST00000529387:c.-33T>G,ENST00000525740:c.-33T>G,ENST00000528703:c.-33T>G NA NA NA NA 1q24.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.379807 NA NA NA NA NA NA NA 5.3333334 1127 4 70513139 70513139 C T exonic UGT2A1 NA nonsynonymous SNV UGT2A1:NM_001252274:exon2:c.G224A:p.R75K,UGT2A1:NM_001252275:exon2:c.G224A:p.R75K,UGT2A1:NM_006798:exon2:c.G224A:p.R75K exonic ENSG00000173610,ENSG00000270386 NA nonsynonymous SNV ENSG00000173610:ENST00000503640:exon1:c.G224A:p.R75K,ENSG00000173610:ENST00000512704:exon1:c.G224A:p.R75K,ENSG00000173610:ENST00000286604:exon2:c.G224A:p.R75K,ENSG00000173610:ENST00000505512:exon2:c.G224A:p.R75K,ENSG00000270386:ENST00000514019:exon2:c.G224A:p.R75K NA NA 4q13.3 NA NA NA NA rs1347046 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.12 T 0.0 B 0.001 B 0.626 N . . -0.48 N 0.31 T -1.028 T 0.000 T 0.25 0.277 5.5 0.266 -0.096 0.552 5.013 0.277314 NA 0.2 NA NA NA 0.993 NA 5.3333334 1127 4 86938317 86938317 C T UTR3 MAPK10 NM_002753:c.*195G>A,NM_138982:c.*64G>A,NM_138981:c.*195G>A,NM_138980:c.*64G>A NA NA UTR3 ENSG00000109339 ENST00000395169:c.*64G>A,ENST00000310816:c.*968G>A,ENST00000359221:c.*64G>A,ENST00000395157:c.*64G>A,ENST00000361569:c.*195G>A,ENST00000449047:c.*64G>A,ENST00000395166:c.*64G>A,ENST00000395160:c.*195G>A,ENST00000515400:c.*195G>A 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 -2.641071 NA NA NA NA NA NA NA 5.3333334 1127 10 74695287 74695287 T C UTR3 PLA2G12B NM_032562:c.*88A>G NA NA UTR3 ENSG00000138308 ENST00000373032:c.*88A>G NA NA NA NA 10q22.1 NA Name=eGFP-JunD,c-Fos,eGFP-FOS,eGFP-JunB Name=32 NA rs2461917 1 1 0.999 0.9998 1 1 1 0.9992 1 1 1 1 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 1.020654 NA NA NA NA NA 1 NA 5.3333334 1127 X 22051034 22051034 A G UTR5 PHEX NM_000444:c.-90A>G NA NA UTR5 ENSG00000102174 ENST00000379374:c.-90A>G,ENST00000537599:c.-90A>G NA NA Score=289;Name=lod=20 NA Xp22.11 NA NA NA NA rs178710 0.49 0.49 0.48331 NA NA NA NA NA NA 0.44 0.33 0.55 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 2.192826 2.192826 NA NA NA NA 0.514 NA 5.3333334 1127 1 120382858 120382858 G A intronic NBPF7 NA NA NA ncRNA_intronic ENSG00000215864 NA NA NA NA 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 -0.850796 NA NA NA NA NA NA NA 5.3333333 1127 12 75678729 75678729 T G intronic CAPS2 NA NA NA ncRNA_intronic ENSG00000254451 NA NA NA NA NA 12q21.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001949 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.727466 2.727466 NA NA NA NA NA NA 5.3333138 1127 4 74368805 74368805 A G UTR3 AFM NM_001133:c.*18A>G NA NA UTR3 ENSG00000079557 ENST00000226355:c.*18A>G NA NA NA NA 4q13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002481 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.595998 NA NA NA NA NA NA NA 5.3333086 1127 5 54603822 54603822 T C UTR5 SKIV2L2 NM_015360:c.-20T>C NA NA UTR5 ENSG00000039123 ENST00000230640:c.-20T>C NA NA NA NA 5q11.2 NA Name=BRCA1_(C-1863),YY1,TBP,PAX5-N19,Pol2(b),JunD,GTF2F1_(RAP-74),ZNF263,SP1,c-Myc,Oct-2,YY1_(C-20),Max,Mxi1_(bHLH),SIX5,eGFP-JunD,Sin3Ak-20,Pol2-4H8,Znf143_(16618-1-AP),NFKB,RFX5_(N-494),TAF1,ETS1,HEY1,KAP1,ELF1_(SC-631),HA-E2F1,Pol2(phosphoS2),USF-1,Pol2,E2F6_(H-50),GTF2B,POU2F2,E2F6,TAF7_(SQ-8),p300 Name=148 NA rs2290595 0.45 0.45 0.406 0.46266 0.334 0.5 0.428 0.615 0.3753 0.35 0.47 0.41 0.61 0.3684 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.108821 NA NA 0.297791 0.554017 NA 0.348 NA 5.3331424 1127 19 49442933 49442933 T C exonic DHDH NA synonymous SNV DHDH:NM_014475:exon4:c.T594C:p.S198S exonic ENSG00000104808 NA nonsynonymous SNV ENSG00000104808:ENST00000520557:exon3:c.T394C:p.C132R NA NA 19q13.33 NA NA NA NA rs2270939 0.41 0.41 0.415 0.453075 0.2058 0.5675 0.2954 0.6982 0.3701 0.23 0.55 0.26 0.66 0.2879 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 0.087084 NA NA 0.173488 0.631185 NA 0.362 NA 5.332812 1127 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=MafK_(SC-477),MafF_(M8194),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 1127 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 1127 19 39421388 39421388 A G UTR5 MRPS12,SARS2 NM_033362:c.-547A>G;NM_017827:c.-12T>C,NM_001145901:c.-12T>C NA NA UTR5 ENSG00000104835,ENSG00000128626 ENST00000221431:c.-12T>C,ENST00000430193:c.-12T>C,ENST00000600042:c.-12T>C,ENST00000455102:c.-12T>C,ENST00000598343:c.-12T>C,ENST00000593754:c.-12T>C;ENST00000308018:c.-547A>G NA NA NA NA 19q13.2 Score=813;Name=V$FOXO1_02 Name=NF-YA,STAT1,HEY1,IRF3,TAF1,RFX5_(N-494),NFKB,Pol2-4H8,TAF7_(SQ-8),POU2F2,USF2,Pol2,USF-1,HA-E2F1,CHD2_(N-1250),STAT2,TBP,YY1,c-Fos,NF-YB,SIX5,PAX5-C20,YY1_(C-20),Oct-2,SP1 Name=148 NA rs730078 0.82 0.82 0.804 0.842053 0.669 0.9742 0.8329 0.9425 0.7546 0.65 0.98 0.78 0.93 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 1.903241 1.903241 NA 0.62087 0.895143 NA 0.812 NA 5.3313634 1127 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 1127 1 170501456 170501456 C T intronic GORAB NA NA NA ncRNA_intronic ENSG00000231407 NA NA NA NA NA 1q24.2 NA Name=E2F1,Pol2-4H8,NFKB,E2F6_(H-50),Ini1,HA-E2F1,Pol2(phosphoS2),Pol2,TBP,Sin3Ak-20,TCF4 Name=136 NA rs11578119 0.19 0.19 0.131 0.144768 0.3648 0.0159 0.2695 0.0265 0.1227 0.35 0.01 0.35 0.05 0.2695 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.137211 NA NA 0.368023 0.091012 NA 0.159 NA 5.3310103 1127 12 53573626 53573626 T C UTR5 CSAD NM_015989:c.-34A>G NA NA UTR5 ENSG00000139631 ENST00000267085:c.-34A>G,ENST00000379843:c.-6372A>G,ENST00000453446:c.-6372A>G NA NA NA NA 12q13.13 NA NA Name=25 NA rs201613048 0.0005 0.0005 NA 0.00239617 0.001 NA NA NA 0.0112 0.0013 NA NA NA 0.0015 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 1.034359 NA NA 0.00014 0 NA NA NA 5.3306934 1127 9 129455587 129455587 G C exonic LMX1B NA synonymous SNV LMX1B:NM_001174146:exon4:c.G726C:p.S242S,LMX1B:NM_001174147:exon4:c.G726C:p.S242S,LMX1B:NM_002316:exon4:c.G726C:p.S242S exonic ENSG00000136944 NA synonymous SNV ENSG00000136944:ENST00000355497:exon4:c.G726C:p.S242S,ENSG00000136944:ENST00000373474:exon4:c.G726C:p.S242S,ENSG00000136944:ENST00000425646:exon4:c.G657C:p.S219S,ENSG00000136944:ENST00000526117:exon4:c.G726C:p.S242S,ENSG00000136944:ENST00000561065:exon4:c.G657C:p.S219S Score=651;Name=lod=591 NA 9q33.3 NA NA NA NA rs13295990 0.45 0.45 0.429 0.439297 0.4364 0.5575 0.3948 0.4009 0.4039 0.42 0.54 0.45 0.39 0.4702 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.131878 NA NA 0.429486 0.394305 NA 0.239 NA 5.3305806 1127 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 1127 17 58031412 58031412 A G exonic RNFT1 NA synonymous SNV RNFT1:NM_016125:exon8:c.T1167C:p.I389I exonic ENSG00000189050 NA synonymous SNV ENSG00000189050:ENST00000305783:exon8:c.T1167C:p.I389I Score=620;Name=lod=440 NA 17q23.1 NA NA NA NA rs11368 0.54 0.54 0.573 0.579273 0.4195 0.5764 0.5 0.8797 0.3967 0.38 0.56 0.44 0.83 0.4785 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 1.081494 NA NA 0.438723 0.804194 NA 0.652 NA 5.3299436 1127 12 53171001 53171001 G A exonic KRT76 NA synonymous SNV KRT76:NM_015848:exon1:c.C75T:p.S25S exonic ENSG00000185069 NA synonymous SNV ENSG00000185069:ENST00000332411:exon1:c.C75T:p.S25S NA NA 12q13.13 NA NA NA NA rs11170272 0.05 0.05 0.05 0.0469249 0.1123 0.002 0.0562 0.0121 0.0665 0.11 NA 0.06 0.02 0.0973 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.374943 NA NA 0.127558 0.024512 NA 0.116 NA 5.3295086 1127 19 36233494 36233494 A G UTR3 U2AF1L4 NM_001040425:c.*126T>C,NM_144987:c.*5T>C NA NA UTR3 ENSG00000161265,ENSG00000267120 ENST00000591084:c.*534T>C,ENST00000587987:c.*831T>C,ENST00000600296:c.*249T>C,ENST00000594792:c.*538T>C,ENST00000412391:c.*126T>C,ENST00000292879:c.*5T>C,ENST00000378975:c.*126T>C,ENST00000589429:c.*353T>C;ENST00000589807:c.*249T>C,ENST00000591057:c.*249T>C NA NA NA NA 19q13.12 NA Name=YY1,TBP,PAX5-C20,Sin3Ak-20,Oct-2,YY1_(C-20),Max,MEF2A,Pol2-4H8,NFKB,BCL3,POU2F2,p300,CHD2_(N-1250),Pol2 NA NA rs200951005 0.0018 0.0018 NA 0.00159744 0.002 NA 0.0029 NA 0.0041 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 1.43203 1.43203 NA 0.000814 0 NA NA NA 5.3294194 1127 16 1397815 1397815 C T exonic BAIAP3 NA synonymous SNV BAIAP3:NM_001199096:exon30:c.C2910T:p.D970D,BAIAP3:NM_001199097:exon31:c.C3018T:p.D1006D,BAIAP3:NM_001199098:exon31:c.C2949T:p.D983D,BAIAP3:NM_001199099:exon31:c.C2934T:p.D978D,BAIAP3:NM_003933:exon31:c.C3123T:p.D1041D exonic ENSG00000007516 NA synonymous SNV ENSG00000007516:ENST00000421665:exon30:c.C2910T:p.D970D,ENSG00000007516:ENST00000324385:exon31:c.C3123T:p.D1041D,ENSG00000007516:ENST00000397488:exon31:c.C3069T:p.D1023D,ENSG00000007516:ENST00000397489:exon31:c.C3069T:p.D1023D,ENSG00000007516:ENST00000426824:exon31:c.C3018T:p.D1006D,ENSG00000007516:ENST00000562208:exon31:c.C2949T:p.D983D,ENSG00000007516:ENST00000568887:exon31:c.C2934T:p.D978D Score=473;Name=lod=112 NA 16p13.3 NA NA NA NA rs1132358 0.35 0.35 0.309 0.33766 0.4592 0.2222 0.5879 0.1868 0.3579 0.47 0.17 0.57 0.2 0.4323 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.464317 NA NA 0.446165 0.22 ID=COSM434657;OCCURENCE=1(breast) 0.326 NA 5.3290016 1127 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 1127 6 41196727 41196727 C T exonic TREML4 NA synonymous SNV TREML4:NM_198153:exon2:c.C339T:p.N113N exonic ENSG00000188056 NA synonymous SNV ENSG00000188056:ENST00000341495:exon2:c.C339T:p.N113N,ENSG00000188056:ENST00000448827:exon2:c.C339T:p.N113N NA NA 6p21.1 NA Name=MafK_(ab50322),CEBPB Name=26 NA rs2101269 0.72 0.72 0.717 0.691294 0.7734 0.8383 0.8141 0.4259 0.727 0.77 0.87 0.79 0.42 0.7739 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 -0.281049 NA NA 0.79093 0.491829 NA 0.768 NA 5.3284366 1127 1 9811541 9811541 A G exonic CLSTN1 NA synonymous SNV CLSTN1:NM_014944:exon4:c.T609C:p.V203V,CLSTN1:NM_001009566:exon5:c.T639C:p.V213V exonic ENSG00000171603 NA synonymous SNV ENSG00000171603:ENST00000435891:exon1:c.T99C:p.V33V,ENSG00000171603:ENST00000361311:exon4:c.T609C:p.V203V,ENSG00000171603:ENST00000377288:exon5:c.T639C:p.V213V,ENSG00000171603:ENST00000377298:exon5:c.T639C:p.V213V NA NA 1p36.22 NA NA NA NA rs11674 0.25 0.25 0.263 0.309505 0.0775 0.1855 0.2219 0.6089 0.3333 0.08 0.22 0.21 0.6 0.1771 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332753 NA NA 0.084302 0.522923 NA 0.333 NA 5.3277646 1127 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 1127 19 4224508 4224508 G T UTR3 ANKRD24 NM_133475:c.*6G>T NA NA UTR3 ENSG00000089847 ENST00000600132:c.*6G>T,ENST00000318934:c.*6G>T NA NA NA NA 19p13.3 NA Name=Egr-1 NA NA rs145144144 0.0014 0.0014 0 0.000798722 0.001 NA 0.0014 0.0008 0.001 0.0013 NA 0.0028 0.002 0.0025 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 0.692617 NA NA 0.002123 0.000944 NA NA NA 5.3277104 1127 6 166952264 166952264 G A exonic RPS6KA2 NA synonymous SNV RPS6KA2:NM_021135:exon2:c.C108T:p.G36G,RPS6KA2:NM_001006932:exon3:c.C132T:p.G44G exonic ENSG00000071242 NA synonymous SNV ENSG00000071242:ENST00000265678:exon2:c.C108T:p.G36G,ENSG00000071242:ENST00000507371:exon2:c.C60T:p.G20G,ENSG00000071242:ENST00000503859:exon3:c.C132T:p.G44G,ENSG00000071242:ENST00000510118:exon4:c.C183T:p.G61G,ENSG00000071242:ENST00000506565:exon5:c.C183T:p.G61G Score=333;Name=lod=30 NA 6q27 Score=755;Name=V$STAT1_01 NA NA NA rs1003857 0.78 0.78 0.763 0.787939 0.7853 0.9395 0.8487 0.5787 0.8742 0.78 0.94 0.82 0.58 0.7924 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 -1.184234 NA NA 0.762093 0.642079 NA 0.71 NA 5.3268736 1127 2 216298230 216298230 C T intronic FN1 NA NA NA intronic ENSG00000115414 NA NA NA NA NA 2q35 NA Name=HEY1 Name=12 NA rs10202709 0.17 0.17 0.164 0.14397 0.2435 0.001 0.1427 0.2549 0.0399 0.26 0.0017 0.17 0.24 0.1902 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281706 NA NA 0.239823 0.239328 NA 0.174 NA 5.326477 1127 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 1127 4 37592638 37592638 C T UTR3 C4orf19,RELL1 NM_001104629:c.*16C>T,NM_018302:c.*16C>T;NM_001085399:c.*205G>A NA NA UTR3 ENSG00000154274,ENSG00000181826 ENST00000381980:c.*16C>T,ENST00000284437:c.*16C>T;ENST00000314117:c.*205G>A NA NA NA NA 4p14 NA NA Name=3 NA rs13150138 NA NA NA 0.000399361 0.002 NA NA NA NA NA NA NA NA 0.002 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 0.285195 NA NA 0.003837 0.000681 NA NA NA 5.3254964 1128 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 1128 11 772490 772490 G A exonic PDDC1 NA synonymous SNV PDDC1:NM_182612:exon5:c.C387T:p.A129A exonic ENSG00000177225 NA synonymous SNV ENSG00000177225:ENST00000526650:exon3:c.C159T:p.A53A,ENSG00000177225:ENST00000528309:exon3:c.C201T:p.A67A,ENSG00000177225:ENST00000354286:exon4:c.C279T:p.A93A,ENSG00000177225:ENST00000442059:exon4:c.C237T:p.A79A,ENSG00000177225:ENST00000524550:exon4:c.C279T:p.A93A,ENSG00000177225:ENST00000319863:exon5:c.C387T:p.A129A,ENSG00000177225:ENST00000397472:exon5:c.C387T:p.A129A,ENSG00000177225:ENST00000526325:exon5:c.C387T:p.A129A NA NA 11p15.5 NA Name=ZNF263 NA NA rs12224894 0.38 0.38 0.33 0.307308 0.4354 0.2827 0.5893 0.1687 0.1881 0.44 0.35 0.57 0.17 0.4248 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.595364 NA NA 0.48186 0.217204 NA 0.297 NA 5.3246066 1128 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 1128 19 44098903 44098903 T A intronic IRGQ NA NA NA intronic ENSG00000167378 NA NA NA NA NA 19q13.31 NA Name=ELF1_(SC-631),BCLAF1_(M33-P5B11),TAF1,ZEB1_(SC-25388),CTCF_(C-20),RFX5_(N-494),CTCF_(SC-5916),CTCF,SMC3_(ab9263),YY1_(C-20),Rad21 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 1128 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 1128 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 1128 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 1128 19 36594063 36594063 C T exonic WDR62 NA synonymous SNV WDR62:NM_001083961:exon29:c.C3468T:p.L1156L,WDR62:NM_173636:exon29:c.C3453T:p.L1151L exonic ENSG00000075702 NA synonymous SNV ENSG00000075702:ENST00000270301:exon29:c.C3453T:p.L1151L,ENSG00000075702:ENST00000401500:exon29:c.C3468T:p.L1156L NA NA 19q13.12 NA NA NA NA rs17851502 0.11 0.11 0.124 0.121206 0.1342 NA 0.072 0.2557 0.0859 0.13 NA 0.09 0.23 0.106 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.186847 NA NA 0.102907 0.22197 NA 0.152 NA 5.3235596 1128 17 3214106 3214106 C A ncRNA_exonic OR3A4P NA NA NA ncRNA_exonic ENSG00000180068 NA NA NA NA NA 17p13.3 Score=870;Name=V$RFX1_02 NA NA NA rs9911226 0.18 0.18 0.199 0.200479 0.1113 0.0456 0.1585 0.4728 0.1135 0.12 0.02 0.15 0.47 0.1292 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.308254 NA NA 0.102674 0.391966 NA 0.261 NA 5.3234926 1128 1 225609884 225609884 A G exonic LBR NA synonymous SNV LBR:NM_002296:exon3:c.T261C:p.P87P,LBR:NM_194442:exon3:c.T261C:p.P87P exonic ENSG00000143815 NA synonymous SNV ENSG00000143815:ENST00000272163:exon3:c.T261C:p.P87P,ENSG00000143815:ENST00000338179:exon3:c.T261C:p.P87P,ENSG00000143815:ENST00000425080:exon3:c.T261C:p.P87P Score=374;Name=lod=44 NA 1q42.12 NA NA Name=23 NA rs1056608 0.74 0.74 0.675 0.670927 0.8022 0.9018 0.8329 0.3328 0.6401 0.8 0.92 0.83 0.36 0.7502 0.92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.453198 1.453198 NA 0.79093 0.401952 NA 0.688 NA 5.3233366 1128 19 10738639 10738639 C T exonic SLC44A2 NA synonymous SNV SLC44A2:NM_001145056:exon4:c.C198T:p.D66D,SLC44A2:NM_020428:exon4:c.C204T:p.D68D exonic ENSG00000129353 NA synonymous SNV ENSG00000129353:ENST00000335757:exon4:c.C204T:p.D68D,ENSG00000129353:ENST00000407327:exon4:c.C198T:p.D66D,ENSG00000129353:ENST00000586078:exon4:c.C204T:p.D68D,ENSG00000129353:ENST00000588409:exon4:c.C204T:p.D68D Score=369;Name=lod=42 NA 19p13.2 Score=742;Name=V$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 1128 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 1128 10 100184063 100184063 C G intronic HPS1 NA NA NA intronic ENSG00000107521 NA NA NA NA NA 10q24.2 Score=844;Name=V$P300_01 Name=HNF4A_(H-171) NA NA rs2296432 0.2 0.2 0.194 0.255791 0.2078 0.3641 0.2709 0.0953 0.3998 0.16 0.34 0.22 0.08 0.2644 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450555 NA NA 0.205 0.105765 NA NA NA 5.3228 1128 10 24762465 24762465 A G exonic KIAA1217 NA synonymous SNV KIAA1217:NM_001098501:exon6:c.A1155G:p.A385A,KIAA1217:NM_019590:exon6:c.A1155G:p.A385A,KIAA1217:NM_001098500:exon7:c.A915G:p.A305A exonic ENSG00000120549 NA synonymous SNV ENSG00000120549:ENST00000307544:exon2:c.A309G:p.A103A,ENSG00000120549:ENST00000376451:exon2:c.A309G:p.A103A,ENSG00000120549:ENST00000396445:exon2:c.A309G:p.A103A,ENSG00000120549:ENST00000396446:exon2:c.A309G:p.A103A,ENSG00000120549:ENST00000430453:exon5:c.A918G:p.A306A,ENSG00000120549:ENST00000438429:exon5:c.A705G:p.A235A,ENSG00000120549:ENST00000376452:exon6:c.A1155G:p.A385A,ENSG00000120549:ENST00000376454:exon6:c.A1155G:p.A385A,ENSG00000120549:ENST00000376456:exon6:c.A1155G:p.A385A,ENSG00000120549:ENST00000458595:exon6:c.A1155G:p.A385A,ENSG00000120549:ENST00000376462:exon7:c.A915G:p.A305A NA NA 10p12.1 NA NA NA NA rs3748215 0.1 0.1 0.073 0.0748802 0.1322 0.1349 0.1009 0.0038 0.0317 0.14 0.15 0.1 0.01 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 -0.090361 NA NA 0.106279 0.024739 NA 0.058 NA 5.3227876 1128 15 90293806 90293806 C A exonic MESP1 NA synonymous SNV MESP1:NM_018670:exon1:c.G657T:p.P219P exonic ENSG00000166823 NA synonymous SNV ENSG00000166823:ENST00000300057:exon1:c.G657T:p.P219P NA NA 15q26.1 NA NA NA NA rs2305439 0.13 0.13 0.127 0.134185 0.0606 0.13 0.1686 0.1997 0.1012 0.06 0.13 0.17 0.2 0.2248 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.644782 NA NA 0.058668 0.155888 ID=COSM1608819;OCCURENCE=1(liver) 0.007 NA 5.3225986 1128 2 217315787 217315787 T C exonic SMARCAL1 NA synonymous SNV SMARCAL1:NM_001127207:exon12:c.T2070C:p.T690T,SMARCAL1:NM_014140:exon12:c.T2070C:p.T690T exonic ENSG00000138375 NA synonymous SNV ENSG00000138375:ENST00000392128:exon9:c.T1596C:p.T532T,ENSG00000138375:ENST00000357276:exon12:c.T2070C:p.T690T,ENSG00000138375:ENST00000358207:exon12:c.T2070C:p.T690T NA NA 2q35 NA NA NA NA rs2066527 0.07 0.07 0.062 0.0844649 0.1044 0.0079 0.0476 0.0431 0.2249 0.11 0.01 0.06 0.07 0.1138 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.828025 NA NA 0.126279 0.04857 ID=COSM442296;OCCURENCE=1(breast) 0.065 NA 5.3221876 1128 17 3213911 3213911 G C ncRNA_exonic OR3A4P NA NA NA ncRNA_exonic ENSG00000180068 NA NA NA Score=369;Name=lod=42 NA 17p13.3 NA NA NA NA rs9903671 0.18 0.18 0.203 0.201877 0.1123 0.0456 0.1599 0.4743 0.1166 0.12 0.02 0.15 0.48 0.1297 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.612159 1.612159 NA 0.102907 0.400136 NA 0.268 NA 5.3217596 1128 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 1128 9 139621120 139621120 A G ncRNA_exonic SNHG7 NA NA NA ncRNA_exonic ENSG00000233016 NA NA NA NA NA 9q34.3 NA Name=Pol2(phosphoS2),CTCF,Pol2-4H8,BCLAF1_(M33-P5B11),Pol2(b) NA NA rs10781513 0.32 0.32 0.314 0.327077 0.3459 0.1815 0.3804 0.3918 0.3323 0.36 0.16 0.39 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 0.525326 NA NA NA NA NA 0.464 NA 5.3207666 1128 8 113237045 113237045 C T exonic CSMD3 NA synonymous SNV CSMD3:NM_052900:exon69:c.G10572A:p.A3524A,CSMD3:NM_198123:exon71:c.G11079A:p.A3693A,CSMD3:NM_198124:exon72:c.G10959A:p.A3653A exonic ENSG00000164796 NA synonymous SNV ENSG00000164796:ENST00000339701:exon56:c.G8889A:p.A2963A,ENSG00000164796:ENST00000352409:exon69:c.G10869A:p.A3623A,ENSG00000164796:ENST00000455883:exon69:c.G10572A:p.A3524A,ENSG00000164796:ENST00000297405:exon71:c.G11079A:p.A3693A,ENSG00000164796:ENST00000343508:exon72:c.G10959A:p.A3653A NA NA 8q23.3 NA NA NA NA rs4876458 0.06 0.06 0.055 0.0533147 0.1312 0.004 0.0865 0.003 0.0685 0.12 0.0035 0.11 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 -0.134738 NA NA 0.121744 0.024058 NA 0.043 NA 5.3198226 1128 9 137619195 137619195 C T exonic COL5A1 NA synonymous SNV COL5A1:NM_000093:exon5:c.C738T:p.T246T exonic ENSG00000130635 NA synonymous SNV ENSG00000130635:ENST00000371817:exon5:c.C738T:p.T246T NA NA 9q34.3 Score=771;Name=V$TCF11MAFG_01 NA NA NA rs3124299 0.38 0.38 0.33 0.342652 0.4652 0.4077 0.5519 0.0424 0.407 0.46 0.43 0.55 0.06 0.429 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.337811 NA NA 0.452674 0.096913 NA 0.268 NA 5.3197926 1128 13 67802339 67802339 A T exonic PCDH9 NA synonymous SNV PCDH9:NM_020403:exon2:c.T234A:p.V78V,PCDH9:NM_203487:exon2:c.T234A:p.V78V exonic ENSG00000184226 NA synonymous SNV ENSG00000184226:ENST00000328454:exon1:c.T234A:p.V78V,ENSG00000184226:ENST00000377865:exon1:c.T234A:p.V78V,ENSG00000184226:ENST00000377861:exon2:c.T234A:p.V78V,ENSG00000184226:ENST00000456367:exon2:c.T234A:p.V78V,ENSG00000184226:ENST00000544246:exon2:c.T234A:p.V78V Score=803;Name=lod=2447 NA 13q21.32 NA NA Name=11 NA rs8000556 0.71 0.71 0.694 0.69988 0.7942 0.6806 0.7493 0.5628 0.773 0.79 0.68 0.74 0.59 0.7546 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 -0.279066 NA NA 0.79814 0.56355 NA 0.659 NA 5.3197266 1128 9 100459578 100459578 T C UTR5 XPA NM_000380:c.-4A>G NA NA UTR5 ENSG00000136936 ENST00000375128:c.-4A>G NA NA NA NA 9q22.33 Score=783;Name=V$COMP1_01 Name=CCNT2,TBP,YY1,YY1_(C-20),c-Myc,Nrf1,HEY1,TAF1,HMGN3,NFKB,GABP,Pol2-4H8,E2F6_(H-50),Pol2,USF2,Pol2(phosphoS2),HA-E2F1 Name=148 NA rs1800975 0.65 0.65 0.631 0.646366 0.671 0.5149 0.6988 0.8109 0.4969 0.68 0.49 0.68 0.78 0.6335 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 2.048835 2.048835 NA 0.709759 0.823998 NA 0.638 NA 5.3190744 1128 9 136268038 136268038 C T exonic C9orf96 NA synonymous SNV C9orf96:NM_153710:exon14:c.C1371T:p.N457N exonic ENSG00000198870 NA synonymous SNV ENSG00000198870:ENST00000371957:exon14:c.C1371T:p.N457N NA NA 9q34.2 NA Name=ZNF263 NA NA rs3124748 0.43 0.43 0.423 0.44349 0.4334 0.4643 0.4928 0.3926 0.4663 0.43 0.43 0.48 0.38 0.4726 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.704739 NA NA 0.4431 0.403138 NA 0.514 NA 5.3175666 1128 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=PU.1,MEF2A,GABP,Pol2-4H8,ZBTB7A_(SC-34508),YY1,BRCA1_(C-1863),NFKB,AP-2gamma,TBP,CCNT2,TAF1,Pol2(b),ZEB1_(SC-25388),ELK4,ATF3,ETS1,GTF2F1_(RAP-74),ELF1_(SC-631),HEY1,GRp20,Nrf1,IRF1,SRF,CHD2_(N-1250),HA-E2F1,c-Myc,ZBTB33,YY1_(C-20),TCF4,Max,Pol2,Mxi1_(bHLH),GTF2B,NRSF,E2F6_(H-50),STAT3,E2F6,SIX5,Sin3Ak-20,GATA3_(SC-268) 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 1128 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 1128 17 40094835 40094835 C T exonic TTC25 NA unknown UNKNOWN ncRNA_exonic ENSG00000204815 NA NA NA NA NA 17q21.2 NA Name=GATA-1,Pol2,CEBPB NA NA rs3809878 0.16 0.16 0.15 0.17472 0.1799 0.1627 0.0922 0.2103 0.1922 0.18 0.16 0.1 0.18 0.1694 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.477625 1.477625 NA 0.168015 0.197821 NA 0.174 NA 5.3160183 1128 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 1128 22 43278220 43278220 C T exonic PACSIN2 NA synonymous SNV PACSIN2:NM_001184970:exon7:c.G876A:p.P292P,PACSIN2:NM_001184971:exon7:c.G876A:p.P292P,PACSIN2:NM_007229:exon7:c.G876A:p.P292P exonic ENSG00000100266 NA synonymous SNV ENSG00000100266:ENST00000263246:exon7:c.G876A:p.P292P,ENSG00000100266:ENST00000337959:exon7:c.G876A:p.P292P,ENSG00000100266:ENST00000402229:exon7:c.G876A:p.P292P,ENSG00000100266:ENST00000403744:exon7:c.G876A:p.P292P,ENSG00000100266:ENST00000407585:exon7:c.G876A:p.P292P NA NA 22q13.2 Score=789;Name=V$SRF_C NA NA NA rs2899365 0.33 0.33 0.311 0.340855 0.4622 0.0933 0.3761 0.3631 0.4162 0.45 0.07 0.43 0.38 0.413 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.125288 NA NA 0.475869 0.414687 NA 0.391 NA 5.3155976 1128 12 12794987 12794987 G A UTR3 CREBL2 NM_001310:c.*55G>A NA NA UTR3 ENSG00000111269 ENST00000228865:c.*55G>A NA NA Score=473;Name=lod=112 NA 12p13.2 NA NA NA NA rs75440439 0.0032 0.0032 0.002 0.00379393 0.005 NA 0.0029 0.0008 0.0112 0.01 NA 0.0028 0.002 NA 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 1.179679 NA NA 0.012885 0 NA NA NA 5.3154484 1129 19 40199914 40199914 C G exonic LGALS14 NA nonsynonymous SNV LGALS14:NM_020129:exon4:c.C381G:p.F127L,LGALS14:NM_203471:exon5:c.C468G:p.F156L exonic ENSG00000006659 NA nonsynonymous SNV ENSG00000006659:ENST00000392052:exon4:c.C381G:p.F127L,ENSG00000006659:ENST00000360675:exon5:c.C468G:p.F156L NA NA 19q13.2 NA NA NA NA rs10755 0.61 0.61 0.632 0.633786 0.7038 0.376 0.5216 0.7935 0.6912 0.69 0.38 0.53 0.82 0.6416 0.82 0.81 T 0.008 B 0.001 B . . 1.000 P 0.345 N 3.5 T -1.020 T 0.000 T 0.044 -1.247 0.052 -0.278 -0.553 -0.276 2.484 -1.247059 NA 0.54 0.673488 0.782115 ID=COSM148620;OCCURENCE=1(stomach) 0.659 NA 5.3144454 1129 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 1129 10 96313960 96313960 A C exonic HELLS NA synonymous SNV HELLS:NM_018063:exon3:c.A231C:p.I77I exonic ENSG00000119969 NA synonymous SNV ENSG00000119969:ENST00000239026:exon3:c.A231C:p.I77I,ENSG00000119969:ENST00000348459:exon3:c.A231C:p.I77I,ENSG00000119969:ENST00000371332:exon3:c.A231C:p.I77I,ENSG00000119969:ENST00000394036:exon3:c.A231C:p.I77I,ENSG00000119969:ENST00000394044:exon3:c.A231C:p.I77I,ENSG00000119969:ENST00000394045:exon3:c.A231C:p.I77I,ENSG00000119969:ENST00000419900:exon3:c.A183C:p.I61I Score=614;Name=lod=418 NA 10q23.33 NA NA NA NA rs11188019 0.5 0.5 0.507 0.530551 0.4404 0.746 0.3228 0.469 0.6319 0.43 0.73 0.36 0.43 0.4695 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 1.351021 1.351021 NA 0.442674 0.478212 NA 0.5 NA 5.3140926 1129 17 29187497 29187497 A G exonic ATAD5 NA synonymous SNV ATAD5:NM_024857:exon10:c.A3003G:p.V1001V exonic ENSG00000176208 NA synonymous SNV ENSG00000176208:ENST00000321990:exon10:c.A3003G:p.V1001V,ENSG00000176208:ENST00000578295:exon10:c.A3003G:p.V1001V NA NA 17q11.2 NA NA NA NA rs9896095 0.15 0.15 0.133 0.172524 0.1074 0.1359 0.1902 0.1762 0.2597 0.09 0.16 0.19 0.18 0.1404 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.39304 NA NA 0.104884 0.165758 NA 0.181 NA 5.3139826 1129 19 40197924 40197924 T C exonic LGALS14 NA nonsynonymous SNV LGALS14:NM_020129:exon3:c.T199C:p.C67R,LGALS14:NM_203471:exon4:c.T286C:p.C96R exonic ENSG00000006659 NA nonsynonymous SNV ENSG00000006659:ENST00000392052:exon3:c.T199C:p.C67R,ENSG00000006659:ENST00000360675:exon4:c.T286C:p.C96R NA NA 19q13.2 NA NA NA NA rs4830 0.61 0.61 0.634 0.637181 0.7038 0.376 0.5245 0.8048 0.6912 0.69 0.38 0.54 0.83 0.6421 0.83 1 T 0.0 B 0.0 B . . 1.000 P -1.305 N 3.43 T -1.026 T 0.000 T 0.035 -2.625 0 1.05 0.034 0.232 3.502 -2.625072 NA 0.48 0.673605 0.786428 ID=COSM148619;OCCURENCE=1(stomach) 0.659 NA 5.3138284 1129 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 1129 11 6341748 6341748 C T upstream PRKCDBP NA NA NA UTR5 ENSG00000170955 ENST00000303927:c.-42G>A,ENST00000530979:c.-42G>A NA NA Score=505;Name=lod=151 NA 11p15.4 NA Name=TAF1,Pol2-4H8,Pol2(phosphoS2),Pol2,TAF7_(SQ-8),E2F6,TBP,c-Fos Name=115 NA rs1994519 0.54 0.54 0.49 0.525359 0.5755 0.5942 0.4726 0.416 0.5879 0.58 0.61 0.46 0.45 0.571 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173173 NA NA 0.539766 0.4303 NA 0.486 NA 5.313734 1129 1 197113073 197113073 G A intronic ASPM NA NA NA intronic ENSG00000066279 NA NA NA NA NA 1q31.3 Score=805;Name=V$HNF1_C Name=STAT3 Name=6 NA rs1571964 0.8 0.8 0.766 0.755591 0.9095 0.9831 0.8746 0.295 0.9008 0.92 0.99 0.89 0.33 0.8704 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 -0.375948 NA NA 0.906461 0.387148 NA 0.674 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081936.1;CLNDSDB=.;CLNDSDBID=. 5.313639 1129 11 33689712 33689712 C T UTR3 KIAA1549L NM_012194:c.*12C>T NA NA ncRNA_UTR3 ENSG00000110427 NA NA NA NA NA 11p13 NA NA Name=8 NA rs79522431 0.03 0.03 0.026 0.0321486 0.0606 NA 0.0418 0.0189 0.047 0.06 NA 0.04 0.02 0.0612 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 0.827031 NA NA 0.064904 0.033131 NA 0.014 NA 5.313296 1129 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 1129 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 1129 19 36574063 36574063 C T exonic WDR62 NA synonymous SNV WDR62:NM_001083961:exon11:c.C1470T:p.D490D,WDR62:NM_173636:exon11:c.C1470T:p.D490D exonic ENSG00000075702 NA synonymous SNV ENSG00000075702:ENST00000270301:exon11:c.C1470T:p.D490D,ENSG00000075702:ENST00000401500:exon11:c.C1470T:p.D490D NA NA 19q13.12 NA NA NA NA rs45567532 0.11 0.11 0.123 0.125998 0.1342 NA 0.0764 0.2723 0.0849 0.13 NA 0.1 0.24 0.1168 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39988 NA NA 0.10314 0.233545 NA 0.152 NA 5.3125266 1129 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 1129 19 50360933 50360933 C A intronic PTOV1 NA NA NA ncRNA_intronic ENSG00000269352 NA NA NA NA NA 19q13.33 NA Name=Pol2,Pol2-4H8 NA NA rs143982573 0.01 0.01 0.007 0.00319489 0.0119 NA 0.0043 0.0008 NA 0.01 NA 0.01 0.002 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 -0.708909 NA NA 0.004419 0.001135 NA NA NA 5.3121143 1129 8 142228686 142228686 G A exonic SLC45A4 NA synonymous SNV SLC45A4:NM_001080431:exon4:c.C900T:p.L300L exonic ENSG00000022567 NA synonymous SNV ENSG00000022567:ENST00000024061:exon4:c.C900T:p.L300L,ENSG00000022567:ENST00000433583:exon4:c.C879T:p.L293L,ENSG00000022567:ENST00000517878:exon4:c.C1053T:p.L351L,ENSG00000022567:ENST00000519067:exon4:c.C900T:p.L300L NA NA 8q24.3 NA NA NA NA rs3739237 0.15 0.15 0.122 0.141174 0.1243 0.2421 0.098 0.0794 0.1687 0.11 0.27 0.13 0.07 0.1215 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.307992 NA NA 0.108772 0.08905 ID=COSM1455204;OCCURENCE=1(large_intestine) 0.072 NA 5.3120946 1129 4 71115053 71115053 T A exonic CSN3 NA synonymous SNV CSN3:NM_005212:exon4:c.T426A:p.P142P exonic ENSG00000171209 NA synonymous SNV ENSG00000171209:ENST00000304954:exon4:c.T426A:p.P142P NA NA 4q13.3 NA NA NA NA rs3775740 0.09 0.09 0.087 0.0716853 0.1233 0.0308 0.0793 0.0862 0.0358 0.13 0.03 0.08 0.09 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 0.535506 NA NA 0.129651 0.093509 NA 0.145 NA 5.3120156 1129 17 41891473 41891473 A G intronic MPP3 NA NA NA intronic ENSG00000161647 NA NA NA NA NA 17q21.31 NA Name=CTCF,ELF1_(SC-631),STAT1,CTCF_(SC-5916) Name=7 NA rs2066725 0.23 0.23 0.26 0.25 0.2555 0.002 0.1614 0.5431 0.1667 0.25 0.01 0.2 0.5 0.2106 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.120243 NA NA 0.222115 0.485279 NA 0.268 NA 5.311785 1129 1 17405916 17405916 C T intronic PADI2 NA NA NA intronic ENSG00000117115 NA NA NA Score=541;Name=lod=210 NA 1p36.13 NA Name=BATF Name=5 NA rs2057095 0.47 0.47 0.429 0.434105 0.5726 0.3879 0.5259 0.2935 0.4642 0.58 0.43 0.52 0.3 0.5382 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167372 NA NA 0.577791 0.361552 NA 0.543 NA 5.311409 1129 20 35865054 35865054 C T exonic RPN2 NA synonymous SNV RPN2:NM_001135771:exon15:c.C1729T:p.L577L,RPN2:NM_002951:exon16:c.C1825T:p.L609L exonic ENSG00000118705 NA synonymous SNV ENSG00000118705:ENST00000437329:exon4:c.C346T:p.L116L,ENSG00000118705:ENST00000373622:exon15:c.C1729T:p.L577L,ENSG00000118705:ENST00000237530:exon16:c.C1825T:p.L609L Score=667;Name=lod=682 NA 20q11.23 Score=793;Name=V$ER_Q6 NA NA NA rs4608 0.69 0.69 0.708 0.69369 0.7952 0.4712 0.7147 0.7489 0.729 0.78 0.46 0.74 0.77 0.745 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 0.903955 NA NA 0.815349 0.779392 NA 0.775 NA 5.3111176 1129 17 47076557 47076557 G C intronic IGF2BP1 NA NA NA intronic ENSG00000159217 NA NA NA NA NA 17q21.32 NA Name=TAF1,ETS1,CTCF,Egr-1,ZBTB7A_(SC-34508),Sin3Ak-20,NRSF Name=45 NA rs1948513 0.15 0.15 0.199 0.154153 0.2187 0.0823 0.1153 0.1233 0.2311 0.2 0.07 0.15 0.15 0.226 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826112 NA NA 0.24458 0.169778 NA 0.159 NA 5.31072 1129 19 53645291 53645291 T C exonic ZNF347 NA nonsynonymous SNV ZNF347:NM_001172674:exon5:c.A793G:p.N265D,ZNF347:NM_001172675:exon5:c.A793G:p.N265D,ZNF347:NM_032584:exon5:c.A790G:p.N264D exonic ENSG00000197937 NA nonsynonymous SNV ENSG00000197937:ENST00000334197:exon5:c.A790G:p.N264D,ENSG00000197937:ENST00000452676:exon5:c.A793G:p.N265D,ENSG00000197937:ENST00000601469:exon5:c.A793G:p.N265D NA NA 19q13.42 NA NA NA NA rs2195310 0.63 0.63 0.634 0.631589 0.6461 0.75 0.7205 0.3873 0.7618 0.66 0.77 0.67 0.39 0.6997 0.77 0.25 T 0.144 B 0.043 B . . 1.000 P 0.36 N 1.67 T -1.033 T 0.000 T 0.013 -0.071 3.653 -0.009 -0.204 0.440 1.120 -0.071082 NA 0.34 0.67686 0.446664 NA 0.58 NA 5.3106734 1129 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 1129 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 1129 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 1129 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 1129 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 1129 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 1129 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 1129 2 234638249 234638249 A G exonic UGT1A3 NA synonymous SNV UGT1A3:NM_019093:exon1:c.A477G:p.A159A exonic ENSG00000243135 NA synonymous SNV ENSG00000243135:ENST00000482026:exon1:c.A477G:p.A159A NA NA 2q37.1 NA Name=TCF4 NA NA rs7574296 0.49 0.49 0.473 0.573083 0.4155 0.3571 0.5216 0.8336 0.6421 0.41 0.31 0.5 0.8 0.4916 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 0.175773 NA NA 0.45 0.747617 NA 0.536 NA 5.3095666 1129 17 15134175 15134175 T G UTR3 PMP22 NM_153321:c.*59A>C,NM_153322:c.*59A>C,NM_000304:c.*59A>C NA NA exonic ENSG00000109099 NA nonsynonymous SNV ENSG00000109099:ENST00000494511:exon3:c.A363C:p.K121N Score=336;Name=lod=31 NA 17p12 NA NA NA NA rs13422 0.59 0.59 0.607 0.595447 0.4891 0.6012 0.5648 0.7413 0.5235 0.47 0.63 0.55 0.75 0.5351 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 0.057729 NA NA NA NA NA 0.565 NA 5.3091334 1129 6 29693969 29693969 C T intronic HLA-F NA NA NA intronic ENSG00000204642 NA NA NA Score=272;Name=lod=17 NA 6p22.1 NA Name=Pol2-4H8 NA NA rs1736922 0.25 0.25 0.25 0.253794 0.2018 0.256 0.3213 0.1505 0.3967 0.22 0.33 0.3 0.17 0.248 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.816343 NA NA 0.241085 0.169521 NA 0.239 NA 5.309115 1129 13 114157846 114157846 G A exonic TMCO3 NA synonymous SNV TMCO3:NM_017905:exon6:c.G981A:p.G327G exonic ENSG00000150403 NA synonymous SNV ENSG00000150403:ENST00000375391:exon6:c.G981A:p.G327G,ENSG00000150403:ENST00000434316:exon6:c.G981A:p.G327G NA NA 13q34 NA NA NA NA rs9805588 0.09 0.09 0.091 0.0750799 0.1461 0.001 0.0706 0.0802 0.0746 0.15 NA 0.08 0.11 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 0.922417 NA NA 0.116512 0.067635 NA 0.123 NA 5.3090546 1129 18 34647323 34647323 T G exonic KIAA1328 NA synonymous SNV KIAA1328:NM_020776:exon7:c.T1047G:p.G349G exonic ENSG00000150477 NA synonymous SNV ENSG00000150477:ENST00000586501:exon1:c.T195G:p.G65G,ENSG00000150477:ENST00000586135:exon4:c.T195G:p.G65G,ENSG00000150477:ENST00000543923:exon6:c.T723G:p.G241G,ENSG00000150477:ENST00000280020:exon7:c.T1047G:p.G349G,ENSG00000150477:ENST00000435985:exon7:c.T195G:p.G65G,ENSG00000150477:ENST00000591619:exon7:c.T1035G:p.G345G NA NA 18q12.2 NA NA NA NA rs3747896 NA NA NA 0.0884585 0.2097 0.001 0.1787 0.0159 0.0879 NA NA NA NA 0.1485 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 -3.488112 NA NA NA NA NA 0.065 NA 5.3084666 1129 20 62737537 62737537 C A exonic NPBWR2 NA synonymous SNV NPBWR2:NM_005286:exon1:c.G648T:p.T216T exonic ENSG00000125522 NA synonymous SNV ENSG00000125522:ENST00000369768:exon1:c.G648T:p.T216T NA NA 20q13.33 NA NA NA NA rs4809400 0.09 0.09 0.067 0.0848642 0.1362 0.0823 0.0893 0.0189 0.1207 0.13 0.08 0.1 0.03 0.1037 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.051922 NA NA 0.119114 0.033606 NA 0.188 NA 5.3076526 1129 19 55669004 55669004 G A UTR5 TNNI3 NM_000363:c.-47C>T NA NA UTR5;UTR3 ENSG00000129991;ENSG00000267110 ENST00000344887:c.-47C>T;ENST00000587871:c.*57C>T NA NA NA NA 19q13.42 NA Name=ZBTB7A_(SC-34508) NA NA rs202159627 0.0032 0.0032 NA 0.00259585 0.0089 NA 0.0029 0.0008 0.001 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 1.269091 1.269091 NA 0.009427 0.002587 NA 0.014 NA 5.3076064 1129 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 1129 19 18502835 18502835 G A exonic LRRC25 NA nonsynonymous SNV LRRC25:NM_145256:exon2:c.C880T:p.P294S exonic ENSG00000175489 NA nonsynonymous SNV ENSG00000175489:ENST00000339007:exon2:c.C880T:p.P294S,ENSG00000175489:ENST00000595840:exon3:c.C880T:p.P294S NA NA 19p13.11 NA NA NA NA rs6512265 0.73 0.73 0.716 0.722045 0.675 0.6746 0.7046 0.8638 0.6401 0.69 0.68 0.73 0.86 0.6919 0.86 0.08 T 0.027 B 0.006 B 0.599 N 1.000 P 0.975 L 1.42 T -1.046 T 0.000 T 0.04 2.224 13.39 -1.63 -0.305 -0.491 1.127 2.223873 2.223873 0.1 0.65907 0.834998 NA 0.761 NA 5.3073634 1129 9 133928345 133928345 C T exonic LAMC3 NA synonymous SNV LAMC3:NM_006059:exon11:c.C1932T:p.S644S exonic ENSG00000050555 NA synonymous SNV ENSG00000050555:ENST00000361069:exon11:c.C1932T:p.S644S NA NA 9q34.12 NA NA NA NA rs12349966 0.44 0.44 0.458 0.479832 0.4642 0.4226 0.3271 0.621 0.4724 0.44 0.38 0.33 0.59 0.4496 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.948262 NA NA 0.445531 0.579736 NA 0.587 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117461.2;CLNDSDB=.;CLNDSDBID=. 5.3073356 1129 19 44611420 44611420 A G exonic ZNF224 NA synonymous SNV ZNF224:NM_013398:exon6:c.A1107G:p.E369E exonic ENSG00000267680 NA synonymous SNV ENSG00000267680:ENST00000336976:exon6:c.A1107G:p.E369E Score=366;Name=lod=41 NA 19q13.31 NA Name=SETDB1 NA NA rs4508518 0.67 0.67 0.66 0.644169 0.8091 0.5308 0.5504 0.6195 0.6912 0.8 0.53 0.63 0.67 0.7302 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 0.717776 NA NA 0.820116 0.65547 NA 0.826 NA 5.3072506 1129 3 46008087 46008087 G A exonic FYCO1 NA synonymous SNV FYCO1:NM_024513:exon8:c.C2739T:p.C913C exonic ENSG00000163820 NA synonymous SNV ENSG00000163820:ENST00000535325:exon7:c.C2739T:p.C913C,ENSG00000163820:ENST00000296137:exon8:c.C2739T:p.C913C NA NA 3p21.31 NA NA NA NA rs13079869 0.06 0.06 0.052 0.105631 0.1223 0.004 0.0605 0.0076 0.3579 0.14 NA 0.06 0.01 0.1271 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.804645 NA NA 0.110116 0.024739 NA 0.051 NA 5.3071506 1129 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 1129 17 48433958 48433958 T C exonic XYLT2 NA synonymous SNV XYLT2:NM_022167:exon8:c.T1569C:p.Y523Y exonic ENSG00000015532 NA synonymous SNV ENSG00000015532:ENST00000511654:exon2:c.T165C:p.Y55Y,ENSG00000015532:ENST00000017003:exon8:c.T1569C:p.Y523Y,ENSG00000015532:ENST00000376550:exon8:c.T1569C:p.Y523Y,ENSG00000015532:ENST00000507602:exon8:c.T1569C:p.Y523Y Score=516;Name=lod=166 NA 17q21.33 NA NA NA NA rs4794136 0.38 0.38 0.359 0.382588 0.4483 0.1111 0.572 0.4932 0.3108 0.43 0.1 0.56 0.49 0.4363 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.480892 NA NA 0.476163 0.501135 NA 0.594 NA 5.3059036 1129 4 1244879 1244879 A G ncRNA_exonic CTBP1-AS1 NA NA NA ncRNA_exonic ENSG00000196810 NA NA NA NA NA 4p16.3 NA NA NA NA rs1564508 0.39 0.39 0.372 0.40016 0.4463 0.4087 0.3934 0.289 0.499 0.46 0.4 0.42 0.27 0.4466 0.47 0 D 0.0 B 0.0 B . . 0.999 P . . . . -0.942 T 0.000 T . -0.235 2.866 0.158 -0.980 -0.796 . -0.235151 NA 0.17 0.468023 0.282115 NA 0.391 NA 5.3057436 1129 16 29994922 29994922 C T exonic TAOK2 NA synonymous SNV TAOK2:NM_001252043:exon13:c.C1359T:p.S453S,TAOK2:NM_004783:exon13:c.C1359T:p.S453S,TAOK2:NM_016151:exon13:c.C1359T:p.S453S exonic ENSG00000149930 NA synonymous SNV ENSG00000149930:ENST00000416441:exon5:c.C840T:p.S280S,ENSG00000149930:ENST00000279394:exon13:c.C1359T:p.S453S,ENSG00000149930:ENST00000308893:exon13:c.C1359T:p.S453S,ENSG00000149930:ENST00000543033:exon13:c.C1359T:p.S453S Score=623;Name=lod=454 NA 16p11.2 NA NA NA NA rs3814883 0.37 0.37 0.352 0.367412 0.4602 0.4444 0.3804 0.1286 0.5061 0.46 0.44 0.4 0.12 0.4352 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088889 NA NA 0.466047 0.166363 NA 0.391 NA 5.3052196 1129 7 43659182 43659182 G A intronic STK17A NA NA NA intronic ENSG00000106603,ENSG00000164543 NA NA NA NA NA 7p13 NA Name=FOXA1_(C-20) Name=27 NA rs6950861 0.23 0.23 0.226 0.197484 0.2535 0.3254 0.1542 0.1044 0.1646 0.25 0.32 0.17 0.11 0.2055 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.695335 NA NA 0.235814 0.135724 ID=COSN168031;OCCURENCE=2(large_intestine) 0.159 NA 5.305186 1130 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 1130 X 154020114 154020114 C A exonic MPP1 NA synonymous SNV MPP1:NM_001166460:exon3:c.G204T:p.T68T,MPP1:NM_001166461:exon3:c.G255T:p.T85T,MPP1:NM_002436:exon3:c.G255T:p.T85T,MPP1:NM_001166462:exon4:c.G165T:p.T55T exonic ENSG00000130830 NA synonymous SNV ENSG00000130830:ENST00000369531:exon3:c.G204T:p.T68T,ENSG00000130830:ENST00000369534:exon3:c.G255T:p.T85T,ENSG00000130830:ENST00000393529:exon3:c.G117T:p.T39T,ENSG00000130830:ENST00000393531:exon3:c.G255T:p.T85T,ENSG00000130830:ENST00000413259:exon4:c.G165T:p.T55T Score=506;Name=lod=152 NA Xq28 NA NA NA NA rs1126762 0.62 0.62 0.61447 NA NA NA NA NA NA 0.77 0.79 0.65 0.18 0.64 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 1.178469 NA NA 0.722503 0.25502 NA 0.406 NA 5.3041636 1130 22 18022046 18022046 T C exonic CECR2 NA unknown UNKNOWN exonic ENSG00000099954 NA synonymous SNV ENSG00000099954:ENST00000262608:exon15:c.T2151C:p.H717H,ENSG00000099954:ENST00000400573:exon16:c.T2148C:p.H716H,ENSG00000099954:ENST00000400585:exon16:c.T1725C:p.H575H NA NA 22q11.21 NA NA NA NA rs41277560 0.01 0.01 0.004 0.00539137 0.0109 NA 0.0115 0.0053 0.001 0.01 NA 0.01 0.01 0.0066 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 -1.679006 NA NA 0.012189 0.004797 NA NA NA 5.3036443 1130 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 1130 12 133219831 133219831 T C exonic POLE NA synonymous SNV POLE:NM_006231:exon35:c.A4530G:p.A1510A exonic ENSG00000177084 NA synonymous SNV ENSG00000177084:ENST00000535270:exon34:c.A4449G:p.A1483A,ENSG00000177084:ENST00000320574:exon35:c.A4530G:p.A1510A Score=483;Name=lod=122 NA 12q24.33 NA NA NA NA rs5744944 0.58 0.58 0.583 0.605232 0.4304 0.6736 0.5317 0.761 0.5562 0.43 0.69 0.52 0.74 0.5032 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.404025 NA NA 0.430581 0.701543 NA 0.558 NA 5.3024856 1130 19 52130830 52130830 C A exonic SIGLEC5 NA synonymous SNV SIGLEC5:NM_003830:exon6:c.G1167T:p.G389G exonic ENSG00000105501,ENSG00000268500 NA synonymous SNV ENSG00000105501:ENST00000222107:exon6:c.G1167T:p.G389G,ENSG00000268500:ENST00000429354:exon6:c.G1167T:p.G389G,ENSG00000105501:ENST00000570106:exon6:c.G1167T:p.G389G,ENSG00000268500:ENST00000599649:exon6:c.G1167T:p.G389G,ENSG00000105501:ENST00000534261:exon7:c.G1167T:p.G389G Score=414;Name=lod=64 NA 19q13.41 NA NA NA NA rs8107754 0.34 0.34 0.318 0.328674 0.4602 0.0089 0.5562 0.382 0.2894 0.47 0.01 0.51 0.39 0.4231 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.267303 NA NA 0.48093 0.423059 NA 0.435 NA 5.3024366 1130 3 189838018 189838018 G T intronic LEPREL1 NA NA NA intronic ENSG00000090530 NA NA NA NA NA 3q28 NA Name=Pol2-4H8 Name=54 NA rs35346557 0.2 0.2 0.22 0.203674 0.2495 0.1796 0.147 0.2852 0.1115 0.24 0.16 0.16 0.24 0.227 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.273061 1.273061 NA 0.221382 0.259646 NA 0.167 NA 5.302118 1130 6 170151565 170151565 T C UTR5 TCTE3 NM_174910:c.-11A>G NA NA UTR5 ENSG00000184786 ENST00000366774:c.-11A>G NA NA NA NA 6q27 NA Name=IRF1,Oct-2,ZBTB7A_(SC-34508),PU.1,BRCA1_(C-1863),AP-2alpha,TBP,Egr-1,AP-2gamma,ELK4,Pol2(b),CTCFL_(SC-98982),GR,CHD2_(N-1250),HA-E2F1,Pol2(phosphoS2),Pol2,FOSL2,E2F6_(H-50),CTCF,GTF2B,POU2F2,p300,Pol2-4H8,GABP,HMGN3,TAF1,ETS1,HEY1,ELF1_(SC-631) NA NA rs143301086 0.01 0.01 0.008 0.00339457 0.0149 NA NA 0.0008 0.001 0.02 NA NA 0.002 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 0.931539 NA NA 0.009419 0.002497 NA NA NA 5.3021144 1130 16 3304654 3304654 T C exonic MEFV NA synonymous SNV MEFV:NM_000243:exon2:c.A414G:p.G138G exonic ENSG00000103313 NA synonymous SNV ENSG00000103313:ENST00000219596:exon2:c.A414G:p.G138G,ENSG00000103313:ENST00000537682:exon2:c.A414G:p.G138G,ENSG00000103313:ENST00000538326:exon2:c.A414G:p.G138G,ENSG00000103313:ENST00000542898:exon2:c.A414G:p.G138G,ENSG00000103313:ENST00000570511:exon2:c.A414G:p.G138G NA NA 16p13.3 NA NA NA NA rs224224 0.43 0.43 0.386 0.386581 0.4742 0.1587 0.5937 0.5257 0.1963 0.47 0.18 0.57 0.54 0.4375 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38386 NA NA 0.453577 0.491419 NA 0.261 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Familial_Mediterranean_fever|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000030183.1|RCV000126740.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1227:C0031069:249100:ORPHA342:12579009|. 5.3013896 1130 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 1130 9 33076645 33076645 A G UTR5 SMU1 NM_018225:c.-39T>C NA NA UTR5 ENSG00000122692 ENST00000397149:c.-39T>C,ENST00000536631:c.-7806T>C NA NA NA NA 9p21.1 NA Name=Pol2,Pol2(phosphoS2),HEY1,ELF1_(SC-631),ATF3,GATA-1,ZEB1_(SC-25388),TAF1,Pol2-4H8,GABP,Sin3Ak-20,c-Myc,SRF,ELK4,Pol2(b),AP-2gamma,BRCA1_(C-1863),AP-2alpha,CEBPB,PU.1 NA NA rs41274015 0.01 0.01 0.004 0.00539137 0.0149 NA 0.0159 NA 0.001 0.01 NA 0.01 NA 0.0063 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 1.974832 1.974832 NA 0.011279 0.002043 NA 0.007 NA 5.3008544 1130 5 67593432 67593432 C T UTR3 PIK3R1 NM_181523:c.*3C>T,NM_181524:c.*3C>T,NM_181504:c.*3C>T,NM_001242466:c.*3C>T NA NA UTR3 ENSG00000145675 ENST00000521381:c.*3C>T,ENST00000521657:c.*3C>T,ENST00000274335:c.*3C>T,ENST00000396611:c.*3C>T,ENST00000320694:c.*3C>T,ENST00000336483:c.*3C>T,ENST00000523872:c.*3C>T NA NA Score=514;Name=lod=164 NA 5q13.1 NA NA NA NA rs41268435 0.0046 0.0046 0.007 0.00479233 0.0129 NA 0.0072 NA 0.0061 0.01 NA 0.01 NA 0.0092 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 1.035686 NA NA 0.010465 0.000908 NA NA NA 5.3007684 1130 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 1130 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=TBP,TR4,YY1,PU.1,ZNF263,MafK_(SC-477),TCF4,YY1_(C-20),c-Myc,SRF,Nrf1,SP1,THAP1_(SC-98174),Sin3Ak-20,STAT3,ZEB1_(SC-25388),TAF1,Pol2-4H8,GABP,HEY1,ELF1_(SC-631),ETS1,Pol2,FOSL2,FOXA1_(C-20),FOXA1_(SC-101058),HA-E2F1,TCF12,Ini1,p300,HDAC2_(SC-6296),TAF7_(SQ-8) 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 1130 6 70071173 70071173 G A exonic BAI3 NA synonymous SNV BAI3:NM_001704:exon29:c.G4008A:p.P1336P exonic ENSG00000135298 NA synonymous SNV ENSG00000135298:ENST00000546190:exon7:c.G900A:p.P300P,ENSG00000135298:ENST00000238918:exon13:c.G1626A:p.P542P,ENSG00000135298:ENST00000370598:exon29:c.G4008A:p.P1336P Score=732;Name=lod=1261 NA 6q13 NA NA NA NA rs913543 0.5 0.5 0.473 0.486222 0.4463 0.8304 0.4568 0.1747 0.6145 0.45 0.82 0.49 0.21 0.4824 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 0.865854 NA NA 0.438241 0.231276 NA 0.457 NA 5.2997256 1130 1 109358958 109358958 T C intronic AKNAD1 NA NA NA intronic ENSG00000162641 NA NA NA NA NA 1p13.3 NA Name=GATA-2,Pol2,YY1_(C-20) Name=128 NA rs6696787 0.16 0.16 0.148 0.15635 0.2276 0.0784 0.2032 0.1097 0.1933 0.23 0.07 0.2 0.11 0.2173 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.998415 NA NA 0.255581 0.122787 NA 0.232 NA 5.299519 1130 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 1130 6 27783204 27783204 C T UTR3 HIST1H2BM NM_003521:c.*2C>T NA NA UTR3 ENSG00000196374 ENST00000359465:c.*2C>T NA NA NA NA 6p22.1 NA Name=ZBTB33,c-Myc,Pol2,Pol2-4H8 NA NA rs45458699 0.01 0.01 0.003 0.00339457 0.0089 NA 0.0072 NA 0.0031 0.01 NA 0.01 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 0.330655 NA NA 0.015349 0.002497 NA NA NA 5.2991844 1130 22 43195147 43195147 A G exonic ARFGAP3 NA synonymous SNV ARFGAP3:NM_001142293:exon14:c.T1299C:p.S433S,ARFGAP3:NM_014570:exon15:c.T1431C:p.S477S exonic ENSG00000242247 NA synonymous SNV ENSG00000242247:ENST00000429508:exon13:c.T1215C:p.S405S,ENSG00000242247:ENST00000437119:exon14:c.T1299C:p.S433S,ENSG00000242247:ENST00000263245:exon15:c.T1431C:p.S477S Score=446;Name=lod=87 NA 22q13.2 NA NA NA NA rs1128013 0.35 0.35 0.335 0.377396 0.4642 0.0813 0.3847 0.5053 0.4151 0.45 0.06 0.43 0.49 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 0.24894 NA NA 0.482791 0.515207 NA 0.428 NA 5.2988756 1130 19 34843761 34843761 C A exonic KIAA0355 NA synonymous SNV KIAA0355:NM_014686:exon14:c.C3114A:p.P1038P exonic ENSG00000166398 NA synonymous SNV ENSG00000166398:ENST00000299505:exon14:c.C3114A:p.P1038P NA NA 19q13.11 Score=768;Name=V$PAX4_04 NA NA NA rs397414 0.62 0.62 0.64 0.629792 0.3907 0.8165 0.4179 0.8313 0.5613 0.4 0.82 0.46 0.84 0.5912 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 -0.505594 NA NA 0.385908 0.763409 NA 0.478 NA 5.2988586 1130 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 1130 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 1130 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 1130 12 129293346 129293346 C T exonic SLC15A4 NA synonymous SNV SLC15A4:NM_145648:exon5:c.G1245A:p.S415S exonic ENSG00000139370 NA synonymous SNV ENSG00000139370:ENST00000544112:exon2:c.G234A:p.S78S,ENSG00000139370:ENST00000266771:exon5:c.G1245A:p.S415S NA NA 12q24.32 Score=796;Name=V$PAX2_01 NA NA NA rs11059924 0.48 0.48 0.499 0.467053 0.4414 0.5893 0.3588 0.4425 0.4775 0.43 0.58 0.38 0.5 0.4586 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448019 NA NA 0.469186 0.423059 NA 0.413 NA 5.2974806 1130 3 38674712 38674712 T C exonic SCN5A NA synonymous SNV SCN5A:NM_000335:exon2:c.A87G:p.A29A,SCN5A:NM_001099404:exon2:c.A87G:p.A29A,SCN5A:NM_001099405:exon2:c.A87G:p.A29A,SCN5A:NM_001160160:exon2:c.A87G:p.A29A,SCN5A:NM_001160161:exon2:c.A87G:p.A29A,SCN5A:NM_198056:exon2:c.A87G:p.A29A exonic ENSG00000183873 NA synonymous SNV ENSG00000183873:ENST00000414099:exon1:c.A87G:p.A29A,ENSG00000183873:ENST00000423572:exon1:c.A87G:p.A29A,ENSG00000183873:ENST00000449557:exon1:c.A87G:p.A29A,ENSG00000183873:ENST00000450102:exon1:c.A87G:p.A29A,ENSG00000183873:ENST00000455624:exon1:c.A87G:p.A29A,ENSG00000183873:ENST00000327956:exon2:c.A87G:p.A29A,ENSG00000183873:ENST00000333535:exon2:c.A87G:p.A29A,ENSG00000183873:ENST00000413689:exon2:c.A87G:p.A29A,ENSG00000183873:ENST00000425664:exon2:c.A87G:p.A29A,ENSG00000183873:ENST00000443581:exon2:c.A87G:p.A29A,ENSG00000183873:ENST00000451551:exon2:c.A87G:p.A29A NA NA 3p22.2 Score=792;Name=V$PAX5_01 NA NA NA rs6599230 0.77 0.77 0.785 0.781749 0.7883 0.6677 0.719 0.9228 0.7464 0.77 0.68 0.71 0.91 0.7737 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 -0.554348 NA NA 0.807201 0.895326 NA 0.877 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000041640.2|RCV000127955.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.2974656 1130 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 1130 4 71232701 71232701 C T exonic SMR3A NA nonsynonymous SNV SMR3A:NM_012390:exon3:c.C395T:p.P132L exonic ENSG00000109208 NA nonsynonymous SNV ENSG00000109208:ENST00000226460:exon3:c.C395T:p.P132L NA NA 4q13.3 NA NA NA NA rs6853742 0.69 0.69 0.7 0.658946 0.6909 0.5903 0.7017 0.7678 0.5194 0.69 0.61 0.69 0.78 0.6749 0.78 1 T 0.033 B 0.012 B . . 1.000 P 0 N 1.63 T -0.959 T 0.000 T 0.055 0.103 4.553 1.6 0.420 0.013 5.765 0.102743 NA 1 0.670465 0.770313 ID=COSM1131068;OCCURENCE=1(prostate) 0.746 NA 5.2970684 1130 2 86481835 86481835 C T exonic REEP1 NA synonymous SNV REEP1:NM_001164731:exon3:c.G204A:p.T68T,REEP1:NM_001164730:exon4:c.G306A:p.T102T,REEP1:NM_022912:exon4:c.G285A:p.T95T exonic ENSG00000068615 NA synonymous SNV ENSG00000068615:ENST00000428491:exon3:c.G204A:p.T68T,ENSG00000068615:ENST00000535845:exon3:c.G204A:p.T68T,ENSG00000068615:ENST00000165698:exon4:c.G285A:p.T95T,ENSG00000068615:ENST00000453231:exon4:c.G306A:p.T102T,ENSG00000068615:ENST00000538924:exon4:c.G306A:p.T102T,ENSG00000068615:ENST00000540790:exon5:c.G222A:p.T74T NA NA 2p11.2 NA NA NA NA rs2276625 0.45 0.45 0.403 0.428714 0.4602 0.5962 0.6037 0.1815 0.4335 0.47 0.62 0.57 0.16 0.4673 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.438649 NA NA 0.442326 0.234226 NA 0.413 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000118136.2|RCV000127760.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.2968406 1130 11 1080576 1080576 G A exonic MUC2 NA synonymous SNV MUC2:NM_002457:exon9:c.G1218A:p.T406T exonic ENSG00000198788 NA synonymous SNV ENSG00000198788:ENST00000359061:exon9:c.G1218A:p.T406T,ENSG00000198788:ENST00000441003:exon9:c.G1218A:p.T406T NA NA 11p15.5 NA NA NA NA rs41349846 0.21 0.21 0.198 0.266374 0.0984 0.3393 0.2767 0.2648 0.3589 0.09 0.35 0.21 0.23 0.1841 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.405987 NA NA 0.087512 0.244237 NA 0.174 NA 5.2966546 1130 6 30078330 30078330 C T exonic TRIM31 NA synonymous SNV TRIM31:NM_007028:exon4:c.G639A:p.A213A exonic ENSG00000204616 NA synonymous SNV ENSG00000204616:ENST00000376734:exon4:c.G639A:p.A213A,ENSG00000204616:ENST00000540829:exon4:c.G639A:p.A213A NA NA 6p22.1 NA NA NA NA rs2239529 0.09 0.09 0.079 0.0632987 0.1193 0.0486 0.1138 0.0121 0.0542 0.12 0.07 0.14 0.01 0.1105 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091941 NA NA 0.140349 0.036541 NA 0.116 NA 5.2965176 1130 14 105415200 105415200 G C exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.C6588G:p.L2196L exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.C6588G:p.L2196L NA NA 14q32.33 Score=836;Name=V$MRF2_01 NA NA NA rs10145566 0.27 0.27 0.185 0.289936 0.4891 0.1359 0.3213 0.1483 0.4131 0.48 0.06 0.34 0.12 0.4018 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.326944 NA NA 0.480471 0.141288 NA 0.058 NA 5.2952956 1130 11 65387378 65387378 T A exonic PCNXL3 NA synonymous SNV PCNXL3:NM_032223:exon8:c.T1983A:p.A661A exonic ENSG00000197136 NA synonymous SNV ENSG00000197136:ENST00000355703:exon8:c.T1983A:p.A661A Score=507;Name=lod=154 NA 11q13.1 NA NA NA NA rs61744384 0.39 0.39 0.356 0.411741 0.4672 0.4355 0.3228 0.2065 0.6708 0.46 0.45 0.36 0.22 0.4616 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.583842 1.583842 NA 0.44265 0.23947 NA 0.42 NA 5.2952166 1130 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 1131 7 24329133 24329133 C T exonic NPY NA synonymous SNV NPY:NM_000905:exon3:c.C204T:p.S68S exonic ENSG00000122585 NA synonymous SNV ENSG00000122585:ENST00000405982:exon2:c.C204T:p.S68S,ENSG00000122585:ENST00000242152:exon3:c.C204T:p.S68S,ENSG00000122585:ENST00000407573:exon4:c.C204T:p.S68S Score=626;Name=lod=468 NA 7p15.3 NA NA NA NA rs5574 0.41 0.41 0.402 0.374201 0.4702 0.3452 0.4308 0.3343 0.319 0.48 0.35 0.45 0.36 0.433 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499632 NA NA 0.468488 0.356105 NA 0.435 NA 5.2949786 1131 10 134017388 134017388 C G exonic DPYSL4 NA synonymous SNV DPYSL4:NM_006426:exon13:c.C1584G:p.V528V exonic ENSG00000151640 NA synonymous SNV ENSG00000151640:ENST00000368627:exon9:c.C1104G:p.V368V,ENSG00000151640:ENST00000368629:exon11:c.C1104G:p.V368V,ENSG00000151640:ENST00000338492:exon13:c.C1584G:p.V528V NA NA 10q26.3 NA NA NA NA rs1052556 0.18 0.18 0.175 0.151957 0.1262 0.372 0.1153 0.0756 0.0808 0.13 0.38 0.15 0.07 0.1295 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.741914 NA NA 0.116163 0.098502 NA 0.109 NA 5.2948036 1131 4 16020162 16020162 C T exonic PROM1 NA synonymous SNV PROM1:NM_001145851:exon7:c.G759A:p.A253A,PROM1:NM_001145852:exon7:c.G759A:p.A253A,PROM1:NM_001145847:exon8:c.G759A:p.A253A,PROM1:NM_001145848:exon8:c.G759A:p.A253A,PROM1:NM_001145849:exon8:c.G786A:p.A262A,PROM1:NM_001145850:exon8:c.G786A:p.A262A,PROM1:NM_006017:exon8:c.G786A:p.A262A exonic ENSG00000007062 NA synonymous SNV ENSG00000007062:ENST00000447510:exon8:c.G786A:p.A262A,ENSG00000007062:ENST00000505450:exon8:c.G759A:p.A253A,ENSG00000007062:ENST00000508167:exon8:c.G759A:p.A253A,ENSG00000007062:ENST00000539194:exon8:c.G786A:p.A262A,ENSG00000007062:ENST00000540805:exon8:c.G786A:p.A262A,ENSG00000007062:ENST00000543373:exon8:c.G759A:p.A253A,ENSG00000007062:ENST00000510224:exon9:c.G786A:p.A262A NA NA 4p15.32 NA NA NA NA rs2286455 0.13 0.13 0.121 0.138179 0.0944 0.2371 0.1628 0.0265 0.2147 0.09 0.22 0.17 0.05 0.1736 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.98571 NA NA 0.104543 0.041505 NA 0.094 NA 5.2941236 1131 10 129845903 129845903 C T UTR5 PTPRE NM_130435:c.-10C>T NA NA UTR5 ENSG00000132334 ENST00000306042:c.-10C>T,ENST00000495530:c.-10C>T,ENST00000479896:c.-10C>T NA NA NA NA 10q26.2 NA Name=KAP1,Pol2-4H8,TAF1,CTCF,TCF12,Pol2,ZNF263,PU.1,Pol2(b),PAX5-C20,TCF4,Max Name=74 NA rs7912703 0.34 0.34 0.326 0.333666 0.3161 0.375 0.562 0.1929 0.3374 0.32 0.38 0.5 0.22 0.3734 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.458613 1.458613 NA 0.349884 0.221062 ID=COSN163824;OCCURENCE=1(breast) 0.304 NA 5.2939494 1131 11 17191019 17191019 A G exonic PIK3C2A NA synonymous SNV PIK3C2A:NM_002645:exon1:c.T270C:p.I90I exonic ENSG00000011405 NA synonymous SNV ENSG00000011405:ENST00000265970:exon1:c.T270C:p.I90I,ENSG00000011405:ENST00000533645:exon2:c.T270C:p.I90I,ENSG00000011405:ENST00000532035:exon3:c.T270C:p.I90I Score=658;Name=lod=630 NA 11p15.1 NA NA NA NA rs214936 0.37 0.37 0.332 0.364018 0.497 0.1845 0.3847 0.3744 0.3834 0.51 0.17 0.39 0.36 0.4133 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.465009 NA NA 0.46273 0.381818 NA 0.29 NA 5.2936366 1131 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 1131 1 247875689 247875689 A G exonic OR6F1 NA synonymous SNV OR6F1:NM_001005286:exon1:c.T369C:p.C123C exonic ENSG00000169214 NA synonymous SNV ENSG00000169214:ENST00000302084:exon1:c.T369C:p.C123C NA NA 1q44 NA NA NA NA rs7512807 0.16 0.16 0.151 0.157548 0.1203 0.2202 0.1254 0.1762 0.1288 0.11 0.2 0.17 0.18 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 -1.042559 NA NA 0.121047 0.177939 ID=COSM1178406;OCCURENCE=1(prostate) 0.181 NA 5.2934196 1131 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 1131 20 31624300 31624300 C T exonic BPIFB6 NA synonymous SNV BPIFB6:NM_174897:exon7:c.C627T:p.S209S exonic ENSG00000167104 NA synonymous SNV ENSG00000167104:ENST00000349552:exon7:c.C627T:p.S209S NA NA 20q11.21 NA NA NA NA rs17373408 0.09 0.09 0.083 0.0714856 0.1312 0.0347 0.0793 0.062 0.0552 0.14 0.04 0.09 0.05 0.102 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.313379 NA NA 0.140349 0.069905 NA 0.072 NA 5.2931176 1131 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 1131 8 22069285 22069285 G C UTR3 BMP1 NM_006129:c.*44G>C NA NA UTR3 ENSG00000168487 ENST00000306385:c.*44G>C,ENST00000354870:c.*2262G>C,ENST00000520970:c.*1369G>C,ENST00000520626:c.*3537G>C,ENST00000520982:c.*2472G>C NA NA NA NA 8p21.3 NA Name=Egr-1,TBP,ELF1_(SC-631),TAF7_(SQ-8),Pol2 NA NA rs75202363 0.01 0.01 0.008 0.00419329 0.0179 NA 0.0014 0.0008 0.001 0.02 NA NA NA 0.0088 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 1.057375 NA NA 0.014419 0.003177 NA NA NA 5.2922144 1131 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 1131 22 30683285 30683285 C G intronic GATSL3 NA NA NA intronic ENSG00000239282,ENSG00000248751 NA NA NA NA NA 22q12.2 NA Name=CTCF,E2F6 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 1131 12 6439470 6439470 A G intronic TNFRSF1A NA NA NA intronic ENSG00000067182 NA NA NA NA NA 12p13.31 NA Name=EBF1_(C-8),NFKB,PAX5-C20,PU.1,EBF Name=9 NA rs12426675 0.29 0.29 0.262 0.333666 0.2167 0.3304 0.4107 0.2746 0.4826 0.22 0.37 0.37 0.25 0.2776 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.654972 NA NA 0.214302 0.26759 ID=COSM147399;OCCURENCE=1(stomach) 0.37 NA 5.291398 1131 9 131862730 131862730 C T intronic CRAT NA NA NA intronic ENSG00000095321 NA NA NA NA NA 9q34.11 NA Name=CTCF_(SC-5916),CTCF Name=4 NA rs10819462 0.57 0.57 0.563 0.555511 0.7087 0.6002 0.6196 0.3132 0.6339 0.71 0.58 0.6 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 0.041136 NA NA NA NA NA 0.558 NA 5.2913 1131 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 1131 6 7576527 7576527 G A exonic DSP NA synonymous SNV DSP:NM_001008844:exon19:c.G2631A:p.R877R,DSP:NM_004415:exon19:c.G2631A:p.R877R exonic ENSG00000096696 NA synonymous SNV ENSG00000096696:ENST00000379802:exon19:c.G2631A:p.R877R,ENSG00000096696:ENST00000418664:exon19:c.G2631A:p.R877R Score=563;Name=lod=260 NA 6p24.3 NA NA NA NA rs1016835 0.75 0.75 0.74 0.735423 0.8012 0.8056 0.7882 0.6082 0.7301 0.79 0.8 0.77 0.61 0.7718 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 -0.07851 NA NA 0.802442 0.642079 NA 0.703 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038011.1;CLNDSDB=.;CLNDSDBID=. 5.2912246 1131 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 1131 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 1131 1 161976234 161976234 A G exonic OLFML2B NA synonymous SNV OLFML2B:NM_015441:exon4:c.T576C:p.N192N exonic ENSG00000162745 NA synonymous SNV ENSG00000162745:ENST00000294794:exon4:c.T576C:p.N192N,ENSG00000162745:ENST00000367940:exon4:c.T576C:p.N192N Score=458;Name=lod=97 NA 1q23.3 Score=822;Name=V$BRN2_01 NA NA NA rs12022536 0.65 0.65 0.609 0.590655 0.8201 0.4583 0.7925 0.4418 0.5491 0.83 0.48 0.81 0.46 0.7328 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 -0.423407 NA NA 0.823256 0.510894 NA 0.703 NA 5.2905106 1131 1 94930345 94930345 G A exonic ABCD3 NA synonymous SNV ABCD3:NM_001122674:exon3:c.G162A:p.K54K,ABCD3:NM_002858:exon3:c.G162A:p.K54K exonic ENSG00000117528 NA synonymous SNV ENSG00000117528:ENST00000315713:exon3:c.G162A:p.K54K,ENSG00000117528:ENST00000370214:exon3:c.G162A:p.K54K,ENSG00000117528:ENST00000394233:exon3:c.G162A:p.K54K,ENSG00000117528:ENST00000454898:exon4:c.G234A:p.K78K Score=542;Name=lod=213 NA 1p21.3 NA NA NA NA rs16946 0.33 0.33 0.27 0.279952 0.502 0.1994 0.3919 0.0998 0.2986 0.49 0.24 0.4 0.14 0.3923 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.841677 NA NA 0.481977 0.157966 NA 0.413 NA 5.2903896 1131 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 1131 1 871334 871334 G T intronic SAMD11 NA NA NA intronic ENSG00000187634 NA NA NA NA NA 1p36.33 NA Name=ZNF263 Name=23 NA rs4072383 0.51 0.51 0.491 0.497804 0.7097 0.4921 0.5865 0.1982 0.6278 0.7 0.46 0.61 0.19 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 -0.497918 NA NA NA NA NA 0.478 NA 5.2903 1131 8 142229834 142229834 G A exonic SLC45A4 NA synonymous SNV SLC45A4:NM_001080431:exon3:c.C372T:p.T124T exonic ENSG00000022567 NA synonymous SNV ENSG00000022567:ENST00000024061:exon3:c.C372T:p.T124T,ENSG00000022567:ENST00000433583:exon3:c.C351T:p.T117T,ENSG00000022567:ENST00000517878:exon3:c.C525T:p.T175T,ENSG00000022567:ENST00000519067:exon3:c.C372T:p.T124T NA NA 8q24.3 NA NA NA NA rs2304280 0.15 0.15 0.123 0.147564 0.1243 0.2421 0.1037 0.1006 0.1687 0.11 0.27 0.14 0.09 0.1431 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.380464 NA NA 0.109767 0.106088 NA 0.087 NA 5.2894996 1131 7 37960835 37960835 G A intronic EPDR1 NA NA NA intronic ENSG00000086289,ENSG00000106483 NA NA NA NA NA 7p14.1 NA Name=Pol2,HA-E2F1,p300,Ini1,E2F6,ZNF263 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 1131 19 45537779 45537779 C T exonic RELB NA unknown UNKNOWN exonic ENSG00000104856 NA synonymous SNV ENSG00000104856:ENST00000505236:exon10:c.C1338T:p.H446H,ENSG00000104856:ENST00000221452:exon11:c.C1347T:p.H449H,ENSG00000104856:ENST00000540120:exon11:c.C1347T:p.H449H NA NA 19q13.32 NA NA NA NA rs2230682 0.01 0.01 0.002 0.00599042 0.0099 NA 0.0029 0.0008 0.0174 0.01 NA 0.0028 0.002 0.0186 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 -1.285684 NA NA 0.016449 0.00359 NA NA NA 5.2883843 1131 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 1131 6 12294137 12294137 T C intronic EDN1 NA NA NA intronic ENSG00000078401 NA NA NA NA NA 6p24.1 NA Name=Pol2(b),Pol2 Name=31 NA rs1800543 0.23 0.23 0.237 0.273962 0.2227 0.2976 0.1902 0.2171 0.4387 0.22 0.29 0.2 0.2 0.2642 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.176602 NA NA 0.225833 0.247163 NA 0.174 NA 5.287267 1131 20 12990057 12990057 T A intronic SPTLC3 NA NA NA intronic ENSG00000172296 NA NA NA NA NA 20p12.1 NA Name=Rad21,CTCF 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 1131 22 21141300 21141300 T C exonic SERPIND1 NA synonymous SNV SERPIND1:NM_000185:exon5:c.T1446C:p.H482H exonic ENSG00000099937 NA synonymous SNV ENSG00000099937:ENST00000406799:exon4:c.T1446C:p.H482H,ENSG00000099937:ENST00000215727:exon5:c.T1446C:p.H482H Score=553;Name=lod=236 NA 22q11.21 NA NA NA NA rs4675 0.55 0.55 0.568 0.521565 0.4742 0.5645 0.5504 0.615 0.3793 0.46 0.59 0.56 0.62 0.4558 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.393711 NA NA 0.45 0.583296 ID=COSM149258;OCCURENCE=1(stomach) 0.493 NA 5.2866666 1131 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 1131 4 113353052 113353052 C T exonic ALPK1 NA synonymous SNV ALPK1:NM_001253884:exon10:c.C2115T:p.S705S,ALPK1:NM_001102406:exon11:c.C2349T:p.S783S,ALPK1:NM_025144:exon11:c.C2349T:p.S783S exonic ENSG00000073331 NA synonymous SNV ENSG00000073331:ENST00000504176:exon10:c.C2115T:p.S705S,ENSG00000073331:ENST00000177648:exon11:c.C2349T:p.S783S,ENSG00000073331:ENST00000458497:exon11:c.C2349T:p.S783S NA NA 4q25 NA NA NA NA rs17044681 0.07 0.07 0.07 0.0493211 0.1501 0.001 0.0749 0.0197 0.0174 0.15 0.0017 0.07 0.02 0.0923 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.272773 1.272773 NA 0.138256 0.039265 NA 0.022 NA 5.2860106 1131 20 50092027 50092027 T G exonic NFATC2 NA synonymous SNV NFATC2:NM_001136021:exon4:c.A1443C:p.I481I,NFATC2:NM_001258292:exon4:c.A1443C:p.I481I,NFATC2:NM_001258294:exon4:c.A846C:p.I282I,NFATC2:NM_001258295:exon4:c.A846C:p.I282I,NFATC2:NM_001258296:exon4:c.A846C:p.I282I,NFATC2:NM_001258297:exon4:c.A846C:p.I282I,NFATC2:NM_012340:exon4:c.A1503C:p.I501I,NFATC2:NM_173091:exon4:c.A1503C:p.I501I exonic ENSG00000101096 NA synonymous SNV ENSG00000101096:ENST00000371564:exon4:c.A1503C:p.I501I,ENSG00000101096:ENST00000396009:exon4:c.A1503C:p.I501I,ENSG00000101096:ENST00000414705:exon4:c.A1443C:p.I481I Score=527;Name=lod=185 NA 20q13.2 NA NA NA NA rs6013193 0.51 0.51 0.507 0.51877 0.4394 0.3472 0.4885 0.7799 0.4458 0.44 0.38 0.49 0.79 0.4758 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 1.42899 1.42899 NA 0.466163 0.730141 NA 0.601 NA 5.2853036 1131 6 24551729 24551729 T C exonic KIAA0319 NA synonymous SNV KIAA0319:NM_001252328:exon16:c.A1206G:p.K402K,KIAA0319:NM_001168376:exon19:c.A2838G:p.K946K,KIAA0319:NM_001168375:exon20:c.A2973G:p.K991K,KIAA0319:NM_014809:exon20:c.A2973G:p.K991K,KIAA0319:NM_001168374:exon21:c.A2946G:p.K982K exonic ENSG00000137261 NA synonymous SNV ENSG00000137261:ENST00000430948:exon19:c.A2838G:p.K946K,ENSG00000137261:ENST00000378214:exon20:c.A2973G:p.K991K,ENSG00000137261:ENST00000543707:exon20:c.A2973G:p.K991K,ENSG00000137261:ENST00000535378:exon21:c.A2946G:p.K982K NA NA 6p22.3 NA NA NA NA rs807535 0.1 0.1 0.092 0.0974441 0.1272 0.0764 0.0951 0.0832 0.1094 0.13 0.07 0.11 0.09 0.1204 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.405241 NA NA 0.133953 0.09419 NA 0.152 NA 5.2851136 1132 19 58058739 58058739 T C exonic ZNF550 NA synonymous SNV ZNF550:NM_001277090:exon4:c.A873G:p.Q291Q,ZNF550:NM_001277091:exon4:c.A873G:p.Q291Q,ZNF550:NM_001277092:exon4:c.A873G:p.Q291Q exonic ENSG00000251369 NA synonymous SNV ENSG00000251369:ENST00000506609:exon2:c.A750G:p.Q250Q,ENSG00000251369:ENST00000325134:exon3:c.A777G:p.Q259Q,ENSG00000251369:ENST00000376230:exon4:c.A873G:p.Q291Q,ENSG00000251369:ENST00000447310:exon4:c.A873G:p.Q291Q,ENSG00000251369:ENST00000457177:exon4:c.A873G:p.Q291Q NA NA 19q13.43 NA Name=SETDB1 NA NA rs10410631 0.49 0.49 0.486 0.48742 0.4414 0.4097 0.5403 0.5651 0.4724 0.46 0.49 0.49 0.56 0.4803 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.119384 NA NA 0.460349 0.546981 NA 0.551 NA 5.2846176 1132 11 66328719 66328719 T C exonic ACTN3 NA unknown UNKNOWN exonic ENSG00000248746 NA unknown UNKNOWN Score=587;Name=lod=323 NA 11q13.2 Score=938;Name=V$AP4_Q6 NA NA NA rs618838 0.59 0.59 0.605 0.60024 0.5626 0.5546 0.4222 0.8956 0.4131 0.54 0.53 0.45 0.84 0.6075 0.84 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.689234 NA NA 0.545683 0.82325 NA 0.464 NA 5.284217 1132 6 35260503 35260503 C T exonic ZNF76 NA synonymous SNV ZNF76:NM_003427:exon10:c.C1104T:p.H368H exonic ENSG00000065029 NA synonymous SNV ENSG00000065029:ENST00000440666:exon9:c.C1026T:p.H342H,ENSG00000065029:ENST00000339411:exon10:c.C1104T:p.H368H,ENSG00000065029:ENST00000373953:exon10:c.C1104T:p.H368H Score=612;Name=lod=408 NA 6p21.31 Score=730;Name=V$SEF1_C NA NA NA rs1557567 0.64 0.64 0.597 0.6252 0.8131 0.6369 0.7277 0.2655 0.8333 0.82 0.66 0.74 0.26 0.7616 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 0.924186 NA 0.1 0.808256 0.351339 ID=COSM150075;OCCURENCE=1(stomach) 0.514 NA 5.2837106 1132 X 3002687 3002687 A G exonic ARSF NA synonymous SNV ARSF:NM_001201538:exon6:c.A810G:p.E270E,ARSF:NM_001201539:exon6:c.A810G:p.E270E,ARSF:NM_004042:exon6:c.A810G:p.E270E exonic ENSG00000062096 NA synonymous SNV ENSG00000062096:ENST00000537104:exon5:c.A810G:p.E270E,ENSG00000062096:ENST00000359361:exon6:c.A810G:p.E270E,ENSG00000062096:ENST00000381127:exon6:c.A810G:p.E270E Score=336;Name=lod=31 NA Xp22.33 NA NA NA NA rs5983003 0.77 0.77 0.77186 NA NA NA NA NA NA 0.65 0.92 0.74 0.8 0.7191 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 -1.157194 NA NA 0.663942 0.775489 NA 0.572 NA 5.2836246 1132 2 101591304 101591304 A G exonic NPAS2 NA nonsynonymous SNV NPAS2:NM_002518:exon13:c.A1180G:p.T394A exonic ENSG00000170485 NA nonsynonymous SNV ENSG00000170485:ENST00000335681:exon13:c.A1180G:p.T394A,ENSG00000170485:ENST00000542504:exon13:c.A1375G:p.T459A NA NA 2q11.2 NA NA NA NA rs2305160 0.77 0.77 0.783 0.798123 0.67 0.8552 0.7133 0.9349 0.7464 0.67 0.81 0.68 0.93 0.7072 0.93 0.44 T 0.001 B 0.003 B 0.163 N 1.000 P -0.55 N 3.53 T -1.083 T 0.000 T 0.045 -0.795 0.689 -1.04 -0.506 0.560 6.399 -0.795188 NA 0.46 0.673023 0.892873 NA 0.877 NA 5.2831104 1132 12 6562810 6562810 A G exonic TAPBPL NA nonsynonymous SNV TAPBPL:NM_018009:exon3:c.A493G:p.T165A exonic ENSG00000139192 NA nonsynonymous SNV ENSG00000139192:ENST00000544021:exon2:c.A262G:p.T88A,ENSG00000139192:ENST00000266556:exon3:c.A493G:p.T165A NA NA 12p13.31 NA NA NA NA rs2532500 0.67 0.67 0.631 0.6873 0.675 0.7887 0.5591 0.6225 0.774 0.68 0.8 0.59 0.59 0.683 0.8 1 T 0.0 B 0.0 B 0.440 N 1.000 P -1.175 N 3.22 T -0.962 T 0.000 T 0.011 -2.259 0.004 1.68 0.079 0.518 7.420 -2.258664 NA 1 0.692326 0.5867 NA 0.58 NA 5.2830074 1132 8 124987478 124987478 T C exonic FER1L6 NA synonymous SNV FER1L6:NM_001039112:exon8:c.T615C:p.S205S exonic ENSG00000214814 NA synonymous SNV ENSG00000214814:ENST00000399018:exon7:c.T615C:p.S205S,ENSG00000214814:ENST00000522917:exon8:c.T615C:p.S205S NA NA 8q24.13 Score=812;Name=V$PAX5_02 NA NA NA rs7465584 0.42 0.42 0.423 0.396166 0.4871 0.4405 0.3602 0.3971 0.2812 0.5 0.39 0.43 0.34 0.4319 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.941008 NA NA 0.464767 0.433991 NA 0.428 NA 5.2828996 1132 11 12279991 12279991 G C intronic MICAL2 NA NA NA intronic ENSG00000133816 NA NA NA NA NA 11p15.3 NA Name=AP-2gamma Name=79 NA rs11022265 0.2 0.2 0.192 0.217452 0.2485 0.1627 0.2853 0.1498 0.2853 0.23 0.16 0.23 0.19 0.2327 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419763 NA NA 0.23626 0.199455 NA 0.145 NA 5.28254 1132 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=c-Jun,Pol2-4H8,Pol2(b),GR 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 1132 16 4748825 4748825 C T exonic ANKS3 NA synonymous SNV ANKS3:NM_001242929:exon10:c.G1206A:p.Q402Q,ANKS3:NM_133450:exon13:c.G1527A:p.Q509Q exonic ENSG00000168096 NA synonymous SNV ENSG00000168096:ENST00000446014:exon11:c.G1140A:p.Q380Q,ENSG00000168096:ENST00000585773:exon11:c.G1308A:p.Q436Q,ENSG00000168096:ENST00000304283:exon13:c.G1527A:p.Q509Q Score=544;Name=lod=217 NA 16p13.3 NA NA NA NA rs841214 0.45 0.45 0.423 0.404952 0.4602 0.624 0.4611 0.146 0.4325 0.46 0.66 0.45 0.18 0.4569 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 1.372561 1.372561 NA 0.467659 0.217441 ID=COSM435279;OCCURENCE=1(breast) 0.355 NA 5.2819076 1132 5 176001189 176001189 G A intronic CDHR2 NA NA NA intronic ENSG00000074276 NA NA NA NA NA 5q35.2 NA Name=CTCFL_(SC-98982),SMC3_(ab9263),ZNF263,ZBTB7A_(SC-34508),PAX5-C20,NRSF,Rad21,c-Myc,YY1_(C-20),CTCF_(SC-5916),Znf143_(16618-1-AP),CTCF_(C-20),CTCF Name=97 NA rs1078628 0.25 0.25 0.202 0.253594 0.2435 0.4702 0.1931 0.0658 0.3374 0.24 0.48 0.17 0.07 0.2549 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.804148 NA NA 0.22 0.092601 NA 0.217 NA 5.2816 1132 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 1132 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 1132 1 109742485 109742485 G A exonic KIAA1324 NA synonymous SNV KIAA1324:NM_001267049:exon11:c.G1461A:p.S487S,KIAA1324:NM_001267048:exon17:c.G2250A:p.S750S,KIAA1324:NM_020775:exon19:c.G2511A:p.S837S exonic ENSG00000116299 NA synonymous SNV ENSG00000116299:ENST00000529753:exon17:c.G2250A:p.S750S,ENSG00000116299:ENST00000457623:exon18:c.G2361A:p.S787S,ENSG00000116299:ENST00000369939:exon19:c.G2511A:p.S837S NA NA 1p13.3 Score=803;Name=V$MYCMAX_01 NA Name=5 NA rs913179 0.77 0.77 0.743 0.758786 0.7893 0.9593 0.8055 0.4713 0.8763 0.79 0.95 0.79 0.5 0.8024 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 -0.259989 NA NA 0.793605 0.5202 NA 0.833 NA 5.2813616 1132 14 106329435 106329435 T G intergenic ELK2AP,KIAA0125 dist=190291;dist=54403 NA NA exonic ENSG00000211900 NA nonsynonymous SNV ENSG00000211900:ENST00000390560:exon1:c.A34C:p.K12Q Score=333;Name=lod=30 NA 14q32.33 NA Name=Pol2-4H8,Pol2 NA NA rs1950943 0.69 0.69 0.59 NA NA NA NA NA NA 0.77 0.76 0.75 0.43 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 -0.045884 NA 1 0.781612 0.52028 NA 0.507 NA 5.2813214 1132 17 961900 961900 G A intronic ABR NA NA NA intronic ENSG00000159842 NA NA NA NA NA 17p13.3 NA Name=CTCF_(C-20),CTCF,FOXA1_(SC-101058),SMC3_(ab9263),FOXA2_(SC-6554),Rad21 Name=89 NA rs2304961 0.73 0.73 0.722 0.720647 0.7187 0.8502 0.6931 0.643 0.7137 0.72 0.85 0.66 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 0.674724 NA NA NA NA NA 0.674 NA 5.2813 1132 12 6933787 6933787 A G exonic GPR162 NA synonymous SNV GPR162:NM_019858:exon2:c.A723G:p.V241V exonic ENSG00000250510 NA synonymous SNV ENSG00000250510:ENST00000311268:exon2:c.A723G:p.V241V Score=613;Name=lod=412 NA 12p13.31 NA NA NA NA rs1051409 0.53 0.53 0.505 0.489417 0.4563 0.5675 0.5144 0.5734 0.3119 0.47 0.6 0.49 0.57 0.4721 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.733643 2.733643 NA 0.457326 0.55084 NA 0.471 NA 5.2809406 1132 17 66533655 66533655 A G exonic FAM20A NA nonsynonymous SNV FAM20A:NM_017565:exon11:c.T1589C:p.L530S,FAM20A:NM_001243746:exon12:c.T1175C:p.L392S exonic ENSG00000108950 NA nonsynonymous SNV ENSG00000108950:ENST00000592554:exon11:c.T1589C:p.L530S NA NA 17q24.2 NA NA NA NA rs2907373 0.79 0.79 0.789 0.797125 0.6789 0.8958 0.7608 0.8744 0.7382 0.68 0.91 0.72 0.85 0.7115 0.91 0.76 T 0.0 B 0.0 B 0.652 N 1.000 P -1.52 N . . -1.000 T 0.000 T 0.019 -0.755 0.802 1.13 0.023 0.360 2.235 -0.75511 NA 0.82 0.662093 0.832274 NA 0.725 NA 5.2808404 1132 14 37051634 37051634 G C UTR5 NKX2-8 NM_014360:c.-40C>G NA NA UTR5 ENSG00000136327 ENST00000258829:c.-40C>G NA NA NA NA 14q13.3 NA Name=Pol2-4H8 Name=10 NA rs35669843 0.28 0.28 0.249 0.227236 0.3638 0.3185 0.3545 0.0242 0.1769 0.35 0.33 0.35 0.04 0.3341 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113747 NA NA 0.354635 0.072148 NA 0.261 NA 5.2807984 1132 17 8048283 8048283 G A exonic PER1 NA synonymous SNV PER1:NM_002616:exon18:c.C2247T:p.G749G exonic ENSG00000179094 NA synonymous SNV ENSG00000179094:ENST00000583559:exon2:c.C96T:p.G32G,ENSG00000179094:ENST00000581082:exon17:c.C2187T:p.G729G,ENSG00000179094:ENST00000317276:exon18:c.C2247T:p.G749G,ENSG00000179094:ENST00000354903:exon18:c.C2199T:p.G733G,ENSG00000179094:ENST00000582719:exon18:c.C2247T:p.G749G Score=478;Name=lod=117 NA 17p13.1 Score=747;Name=V$PPARA_01 NA NA NA rs2735611 0.59 0.59 0.571 0.570487 0.8241 0.2837 0.5029 0.5076 0.7382 0.84 0.3 0.59 0.54 0.7253 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 0.878007 NA NA 0.837407 0.556213 NA 0.536 NA 5.2798596 1132 17 27185827 27185827 C T exonic ERAL1 NA synonymous SNV ERAL1:NM_005702:exon7:c.C945T:p.D315D exonic ENSG00000132591 NA synonymous SNV ENSG00000132591:ENST00000254928:exon7:c.C945T:p.D315D Score=575;Name=lod=290 NA 17q11.2 NA Name=Pol2 NA NA rs2242345 0.78 0.78 0.81 0.771166 0.8052 0.749 0.6873 0.8835 0.6667 0.81 0.69 0.72 0.91 0.7794 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 0.179115 NA NA 0.802326 0.866319 NA 0.71 NA 5.2797406 1132 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 1132 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 1132 8 12878677 12878677 T C exonic KIAA1456 NA synonymous SNV KIAA1456:NM_001099677:exon2:c.T111C:p.A37A,KIAA1456:NM_020844:exon5:c.T489C:p.A163A exonic ENSG00000250305 NA synonymous SNV ENSG00000250305:ENST00000524591:exon5:c.T489C:p.A163A Score=455;Name=lod=94 NA 8p22 Score=844;Name=V$GR_Q6 NA NA NA rs622106 0.68 0.68 0.713 0.710264 0.8221 0.7937 0.7622 0.5817 0.6462 0.73 0.71 0.73 0.52 0.7608 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 -0.270899 NA NA 0.804731 0.631404 NA 0.71 NA 5.2790356 1132 19 35800720 35800720 G C intronic MAG NA NA NA intronic ENSG00000105695 NA NA NA NA NA 19q13.12 NA Name=HA-E2F1,E2F6 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 1132 5 42801268 42801268 C T exonic SEPP1 NA unknown UNKNOWN exonic ENSG00000250722 NA unknown UNKNOWN NA NA 5p12 NA NA NA NA rs3877899 0.19 0.19 0.185 0.172524 0.2863 0.002 0.1513 0.2685 0.1166 0.29 0.0035 0.17 0.27 0.2019 0.29 1 T . . . . 0.048 N 1.000 P 0.41 N 1.57 T -1.010 T 0.000 T 0.163 2.188 13.27 0.615 -0.190 -0.932 9.637 2.188227 2.188227 NA 0.233827 0.24918 NA 0.304 NA 5.277973 1132 13 110864225 110864225 A T exonic COL4A1 NA synonymous SNV COL4A1:NM_001845:exon7:c.T432A:p.A144A exonic ENSG00000187498 NA synonymous SNV ENSG00000187498:ENST00000375820:exon7:c.T432A:p.A144A,ENSG00000187498:ENST00000543140:exon7:c.T432A:p.A144A NA NA 13q34 NA NA Name=2 NA rs532625 0.44 0.44 0.447 0.472843 0.4493 0.5407 0.3804 0.3631 0.6411 0.44 0.53 0.43 0.35 0.4672 0.53 NA NA 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 0.472326 0.375624 NA 0.428 NA 5.2778406 1132 6 133849966 133849966 C T UTR3 EYA4 NM_004100:c.*23C>T,NM_172105:c.*23C>T,NM_172103:c.*23C>T NA NA ncRNA_UTR3 ENSG00000112319 NA NA NA Score=686;Name=lod=817 NA 6q23.2 NA NA Name=6 NA rs3734279 0.45 0.45 0.429 0.471046 0.4016 0.6855 0.5274 0.2027 0.6442 0.4 0.69 0.5 0.2 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 -0.097062 NA NA 0.386512 0.227644 NA 0.428 NA 5.277588 1132 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,ELF1_(SC-631),HEY1,TAF1,Pol2-4H8 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 1132 8 105361095 105361095 C T exonic DCSTAMP NA synonymous SNV DCSTAMP:NM_001257317:exon2:c.C315T:p.I105I,DCSTAMP:NM_030788:exon2:c.C315T:p.I105I exonic ENSG00000164935 NA synonymous SNV ENSG00000164935:ENST00000517991:exon1:c.C315T:p.I105I,ENSG00000164935:ENST00000297581:exon2:c.C315T:p.I105I NA NA 8q22.3 NA NA NA NA rs3088027 0.12 0.12 0.09 0.116014 0.1272 0.131 0.1859 0.0605 0.1145 0.13 0.1 0.2 0.07 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 0.985403 NA NA 0.132326 0.079437 NA 0.123 NA 5.2774406 1132 3 40286017 40286017 T C exonic MYRIP NA synonymous SNV MYRIP:NM_015460:exon13:c.T2181C:p.S727S exonic ENSG00000170011 NA synonymous SNV ENSG00000170011:ENST00000539167:exon11:c.T1620C:p.S540S,ENSG00000170011:ENST00000396217:exon12:c.T1914C:p.S638S,ENSG00000170011:ENST00000425621:exon12:c.T1986C:p.S662S,ENSG00000170011:ENST00000302541:exon13:c.T2181C:p.S727S,ENSG00000170011:ENST00000444716:exon13:c.T2181C:p.S727S NA NA 3p22.1 Score=738;Name=V$MYOGNF1_01 NA NA NA rs4618168 0.6 0.6 0.576 0.648562 0.4254 0.7629 0.4712 0.7965 0.6861 0.41 0.73 0.52 0.78 0.5204 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 1.31857 1.31857 NA 0.444535 0.739673 NA 0.638 NA 5.2763316 1132 1 179055020 179055020 C T exonic TOR3A NA synonymous SNV TOR3A:NM_022371:exon3:c.C631T:p.L211L exonic ENSG00000186283 NA synonymous SNV ENSG00000186283:ENST00000447595:exon1:c.C307T:p.L103L,ENSG00000186283:ENST00000352445:exon3:c.C631T:p.L211L,ENSG00000186283:ENST00000367627:exon3:c.C631T:p.L211L NA NA 1q25.2 NA NA NA NA rs2296376 0.15 0.15 0.148 0.132388 0.1402 0.255 0.0663 0.1112 0.0736 0.14 0.28 0.09 0.08 0.1271 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.712654 NA NA 0.123372 0.105765 NA 0.145 NA 5.2759946 1132 17 38938557 38938557 G A exonic KRT27 NA synonymous SNV KRT27:NM_181537:exon1:c.C189T:p.G63G exonic ENSG00000171446 NA synonymous SNV ENSG00000171446:ENST00000301656:exon1:c.C189T:p.G63G NA NA 17q21.2 NA NA NA NA rs67771170 0.08 0.08 0.076 0.0876597 0.1441 0.0704 0.0605 0.0023 0.182 0.15 0.08 0.07 0.002 0.1161 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.504318 NA NA 0.130698 0.029051 NA 0.116 NA 5.2757686 1132 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 1133 5 115298378 115298378 C T exonic AQPEP NA synonymous SNV AQPEP:NM_173800:exon1:c.C64T:p.L22L exonic ENSG00000172901 NA synonymous SNV ENSG00000172901:ENST00000357872:exon1:c.C64T:p.L22L,ENSG00000172901:ENST00000504467:exon1:c.C64T:p.L22L NA NA 5q23.1 NA Name=CTCF Name=37 NA rs10062297 0.78 0.78 0.792 0.77496 0.7843 0.747 0.8069 0.8533 0.6656 0.77 0.72 0.81 0.84 0.7832 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 -1.032893 NA NA 0.824241 0.861007 ID=COSM1130961;OCCURENCE=1(prostate) 0.246 NA 5.2749256 1133 9 14824799 14824799 G A exonic FREM1 NA synonymous SNV FREM1:NM_144966:exon12:c.C2073T:p.S691S exonic ENSG00000164946 NA synonymous SNV ENSG00000164946:ENST00000380880:exon11:c.C2073T:p.S691S,ENSG00000164946:ENST00000380875:exon12:c.C2073T:p.S691S,ENSG00000164946:ENST00000380881:exon12:c.C2076T:p.S692S,ENSG00000164946:ENST00000422223:exon12:c.C2073T:p.S691S NA NA 9p22.3 NA NA NA NA rs12236053 0.15 0.15 0.159 0.151957 0.0994 0.1716 0.0821 0.2156 0.1493 0.11 0.16 0.09 0.24 0.1688 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.846484 NA NA 0.123837 0.176343 NA 0.225 NA 5.2746296 1133 19 4154910 4154910 C T exonic CREB3L3 NA synonymous SNV CREB3L3:NM_001271995:exon2:c.C42T:p.A14A,CREB3L3:NM_001271996:exon2:c.C42T:p.A14A,CREB3L3:NM_001271997:exon2:c.C42T:p.A14A,CREB3L3:NM_032607:exon2:c.C42T:p.A14A exonic ENSG00000060566 NA synonymous SNV ENSG00000060566:ENST00000078445:exon2:c.C42T:p.A14A,ENSG00000060566:ENST00000252587:exon2:c.C15T:p.A5A,ENSG00000060566:ENST00000595923:exon2:c.C42T:p.A14A,ENSG00000060566:ENST00000602147:exon2:c.C42T:p.A14A,ENSG00000060566:ENST00000602257:exon2:c.C42T:p.A14A NA NA 19p13.3 NA NA NA NA rs35474881 0.09 0.09 0.097 0.0856629 0.1431 0.0308 0.0821 0.0855 0.0859 0.13 0.02 0.1 0.09 0.1124 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.811886 NA NA 0.136628 0.091466 NA 0.138 NA 5.2745386 1133 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$AP4_Q6 NA NA NA rs11078719 0.55 0.55 0.52 0.594848 0.4274 0.8016 0.6398 0.4433 0.727 0.44 0.74 0.57 0.47 0.5297 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.198565 NA NA 0.435566 0.463913 NA 0.522 NA 5.2740006 1133 7 5434135 5434135 A G exonic TNRC18 NA synonymous SNV TNRC18:NM_001080495:exon3:c.T279C:p.S93S exonic ENSG00000182095 NA synonymous SNV ENSG00000182095:ENST00000399434:exon2:c.T57C:p.S19S,ENSG00000182095:ENST00000434361:exon2:c.T57C:p.S19S,ENSG00000182095:ENST00000399537:exon3:c.T279C:p.S93S,ENSG00000182095:ENST00000430969:exon3:c.T279C:p.S93S Score=559;Name=lod=249 NA 7p22.1 Score=824;Name=V$ATF_01 NA NA NA rs4724668 0.9 0.9 0.901 0.924321 0.7803 0.998 0.8775 0.9887 0.9427 0.79 1 0.88 0.98 0.8332 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.479199 1.479199 NA 0.779483 0.957021 NA 0.942 NA 5.2736836 1133 7 75889184 75889184 T C intronic SRRM3 NA NA NA intronic ENSG00000177679 NA NA NA NA NA 7q11.23 NA Name=E2F6_(H-50),ZBTB7A_(SC-34508) Name=2 NA rs6950229 0.29 0.29 0.268 0.267971 0.2545 0.4415 0.2709 0.2088 0.181 0.24 0.47 0.27 0.18 0.2528 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.337572 NA NA 0.219188 0.221543 NA 0.21 NA 5.273512 1133 13 21535837 21535837 T G intergenic XPO4,LATS2 dist=58924;dist=11339 NA NA ncRNA_exonic ENSG00000213621 NA NA NA Score=818;Name=lod=2818 NA 13q12.11 NA NA Name=11 NA rs9316041 0.42 0.42 0.455 0.476038 0.7266 0.3978 0.6282 0.2171 0.5409 0.57 0.34 0.47 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 0.976182 NA NA NA NA NA 0.326 NA 5.2734 1133 4 75248434 75248434 A G exonic EREG NA synonymous SNV EREG:NM_001432:exon4:c.A351G:p.E117E exonic ENSG00000124882 NA synonymous SNV ENSG00000124882:ENST00000244869:exon4:c.A351G:p.E117E Score=436;Name=lod=79 NA 4q13.3 Score=783;Name=V$HTF_01 NA NA NA rs2367707 0.78 0.78 0.775 0.767772 0.8101 0.6984 0.8285 0.7905 0.7219 0.82 0.69 0.81 0.78 0.7927 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 1.248446 1.248446 NA 0.790581 0.753745 NA 0.739 NA 5.2732856 1133 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 1133 6 29795993 29795993 G A exonic HLA-G NA synonymous SNV HLA-G:NM_002127:exon3:c.G243A:p.P81P exonic ENSG00000204632 NA synonymous SNV ENSG00000204632:ENST00000360323:exon2:c.G243A:p.P81P,ENSG00000204632:ENST00000376815:exon2:c.G243A:p.P81P,ENSG00000204632:ENST00000376818:exon2:c.G243A:p.P81P,ENSG00000204632:ENST00000478519:exon2:c.G243A:p.P81P,ENSG00000204632:ENST00000376828:exon3:c.G258A:p.P86P,ENSG00000204632:ENST00000428701:exon3:c.G243A:p.P81P Score=336;Name=lod=31 NA 6p22.1 NA NA NA NA rs1130355 0.5 0.5 0.501 0.544329 0.4324 0.6032 0.4654 0.5083 0.7035 0.42 0.63 0.46 0.5 0.4985 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39006 NA NA 0.463086 0.508604 NA 0.558 NA 5.2726806 1133 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 1133 X 1537002 1537002 C G exonic ASMTL NA synonymous SNV ASMTL:NM_001173474:exon10:c.G1338C:p.T446T,ASMTL:NM_001173473:exon11:c.G1212C:p.T404T,ASMTL:NM_004192:exon11:c.G1386C:p.T462T exonic ENSG00000169093 NA synonymous SNV ENSG00000169093:ENST00000381333:exon10:c.G1338C:p.T446T,ENSG00000169093:ENST00000416733:exon10:c.G1158C:p.T386T,ENSG00000169093:ENST00000381317:exon11:c.G1386C:p.T462T,ENSG00000169093:ENST00000534940:exon11:c.G1212C:p.T404T Score=426;Name=lod=72 NA Xp22.33 NA NA NA NA rs6644873 0.61 0.61 NA NA NA NA NA NA NA 0.65 0.75 0.69 0.33 0.6983 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 -0.131909 NA NA 0.696044 0.420028 ID=COSM1331173;OCCURENCE=1(ovary) 0.652 NA 5.2723226 1133 18 28993183 28993183 A G exonic DSG4 NA synonymous SNV DSG4:NM_001134453:exon15:c.A2805G:p.P935P,DSG4:NM_177986:exon16:c.A2748G:p.P916P exonic ENSG00000175065 NA synonymous SNV ENSG00000175065:ENST00000359747:exon15:c.A2805G:p.P935P,ENSG00000175065:ENST00000308128:exon16:c.A2748G:p.P916P NA NA 18q12.1 NA Name=MafK_(SC-477),MafF_(M8194) NA NA rs12960081 0.42 0.42 0.397 0.393371 0.4781 0.5139 0.4856 0.1755 0.411 0.48 0.53 0.48 0.17 0.443 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.357754 NA NA 0.473721 0.231729 NA 0.348 NA 5.2718456 1133 13 109707827 109707827 T C exonic MYO16 NA synonymous SNV MYO16:NM_001198950:exon27:c.T3219C:p.D1073D,MYO16:NM_015011:exon27:c.T3153C:p.D1051D exonic ENSG00000041515 NA synonymous SNV ENSG00000041515:ENST00000457511:exon15:c.T1689C:p.D563D,ENSG00000041515:ENST00000357550:exon26:c.T3153C:p.D1051D,ENSG00000041515:ENST00000356711:exon27:c.T3153C:p.D1051D NA NA 13q33.3 NA NA NA NA rs9521141 0.09 0.09 0.077 0.091853 0.1402 0.0992 0.1124 0.0023 0.1411 0.14 0.11 0.1 0.0041 0.1243 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.629682 NA NA 0.130612 0.028597 ID=COSM147714;OCCURENCE=1(stomach) 0.029 NA 5.2715546 1133 3 196674972 196674972 C T exonic PIGZ NA nonsynonymous SNV PIGZ:NM_025163:exon3:c.G796A:p.A266T exonic ENSG00000119227 NA nonsynonymous SNV ENSG00000119227:ENST00000412723:exon3:c.G796A:p.A266T NA NA 3q29 NA NA NA NA rs574365 0.69 0.69 0.468 0.805112 0.7744 0.9286 0.8228 0.8616 0.6207 0.63 0.8 0.71 0.65 0.7699 0.8 0.38 T 0.001 B 0.003 B 0.627 N 1.000 P 0.715 N -0.06 T -0.972 T 0.000 T 0.031 -0.396 2.144 1.91 0.558 0.022 7.294 -0.396012 NA NA 0.517558 0.689514 NA 0.007 NA 5.2714754 1133 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 1133 6 73951987 73951987 T G intronic KHDC1 NA NA NA intronic ENSG00000135314,ENSG00000243501 NA NA NA NA NA 6q13 NA Name=ERalpha_a Name=3 NA rs6453659 0.35 0.35 0.364 0.376997 0.2217 0.3016 0.2853 0.7201 0.2157 0.23 0.28 0.24 0.69 0.2725 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 -0.623425 NA NA 0.234726 0.603457 NA 0.478 NA 5.271074 1133 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 1133 9 140108857 140108857 T C exonic NDOR1 NA synonymous SNV NDOR1:NM_001144027:exon5:c.T612C:p.S204S,NDOR1:NM_001144026:exon6:c.T714C:p.S238S,NDOR1:NM_001144028:exon6:c.T714C:p.S238S,NDOR1:NM_014434:exon6:c.T714C:p.S238S exonic ENSG00000188566 NA synonymous SNV ENSG00000188566:ENST00000427047:exon5:c.T612C:p.S204S,ENSG00000188566:ENST00000344894:exon6:c.T714C:p.S238S,ENSG00000188566:ENST00000371521:exon6:c.T714C:p.S238S,ENSG00000188566:ENST00000458322:exon6:c.T714C:p.S238S NA NA 9q34.3 NA NA NA NA rs73563696 0.15 0.15 0.14 0.140775 0.1362 0.2014 0.1282 0.0817 0.1718 0.14 0.21 0.11 0.11 0.1335 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.914301 NA NA 0.12593 0.099637 NA 0.08 NA 5.2710366 1133 16 74750405 74750405 G A exonic FA2H NA synonymous SNV FA2H:NM_024306:exon6:c.C879T:p.P293P exonic ENSG00000103089 NA synonymous SNV ENSG00000103089:ENST00000544337:exon4:c.C240T:p.P80P,ENSG00000103089:ENST00000219368:exon6:c.C879T:p.P293P NA NA 16q23.1 NA Name=CTCF NA NA rs2301865 0.75 0.75 0.762 0.72524 0.8171 0.6478 0.7954 0.7224 0.6646 0.82 0.66 0.81 0.72 0.7732 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 -0.188947 NA NA 0.805465 0.733621 NA 0.746 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117012.1;CLNDSDB=.;CLNDSDBID=. 5.2709016 1133 8 2027633 2027633 C G intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA Name=CTCF Name=43 NA rs1440291 0.19 0.19 0.204 0.214657 0.2545 0.0992 0.1383 0.2678 0.2751 0.25 0.11 0.14 0.25 0.2282 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.423521 NA NA 0.246512 0.250113 NA 0.138 NA 5.270788 1133 5 442571 442571 A C UTR3 C5orf55 NM_138464:c.*7T>G NA NA UTR3 ENSG00000221990 ENST00000408966:c.*7T>G NA NA NA NA 5p15.33 NA Name=ETS1,E2F6,E2F6_(H-50),Max Name=126 NA rs56146525 0.19 0.19 0.159 0.153554 0.3986 0.004 0.2349 0.0113 0.1902 0.4 NA 0.27 0.01 0.3009 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.345063 NA NA 0.363237 0.070613 NA 0.152 NA 5.2705964 1133 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=RXRA,HDAC2_(SC-6296),HEY1,ELF1_(SC-631),HNF4G_(SC-6558) 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 1133 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 1133 1 236702209 236702209 C T exonic LGALS8 NA synonymous SNV LGALS8:NM_201544:exon4:c.C165T:p.S55S,LGALS8:NM_006499:exon5:c.C165T:p.S55S,LGALS8:NM_201543:exon5:c.C165T:p.S55S,LGALS8:NM_201545:exon5:c.C165T:p.S55S exonic ENSG00000116977 NA nonsynonymous SNV ENSG00000116977:ENST00000434231:exon3:c.C76T:p.H26Y,ENSG00000116977:ENST00000442397:exon4:c.C158T:p.A53V Score=450;Name=lod=90 NA 1q43 NA NA NA NA rs1041936 0.37 0.37 0.384 0.417133 0.6014 0.4732 0.464 0.2231 0.3988 0.45 0.41 0.42 0.17 0.5463 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.527353 2.527353 NA 0.583023 0.278711 ID=COSM146831;OCCURENCE=1(stomach),1(autonomic_ganglia) NA NA 5.269277 1133 10 70645697 70645697 C T exonic STOX1 NA synonymous SNV STOX1:NM_001130161:exon3:c.C2145T:p.N715N,STOX1:NM_001130162:exon3:c.C1815T:p.N605N,STOX1:NM_152709:exon3:c.C2145T:p.N715N exonic ENSG00000165730 NA synonymous SNV ENSG00000165730:ENST00000298596:exon3:c.C2145T:p.N715N,ENSG00000165730:ENST00000399169:exon3:c.C2145T:p.N715N,ENSG00000165730:ENST00000421961:exon3:c.C1815T:p.N605N NA NA 10q22.1 NA NA NA NA rs10509306 0.1 0.1 0.084 0.0880591 0.1461 0.0556 0.1527 0.0098 0.1217 0.14 0.06 0.16 0.01 0.1302 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.627856 NA NA 0.121556 0.024252 NA 0.116 NA 5.2688106 1133 4 170678993 170678993 T C exonic C4orf27 NA synonymous SNV C4orf27:NM_017867:exon1:c.A36G:p.G12G exonic ENSG00000056050 NA synonymous SNV ENSG00000056050:ENST00000393381:exon1:c.A36G:p.G12G Score=304;Name=lod=23 NA 4q33 NA Name=YY1_(C-20),Sin3Ak-20,E2F4,STAT3,NRSF,TR4,CCNT2,TBP,STAT2,MafK_(SC-477),Pol2,HA-E2F1,TCF12,MafK_(ab50322),TAF1,HMGN3,NFKB,GABP,Pol2-4H8,ELF1_(SC-631),STAT1,HEY1,ETS1,E2F1 NA NA rs11540095 0.8 0.8 0.768 0.777356 0.7843 0.881 0.7954 0.6899 0.7689 0.8 0.89 0.8 0.7 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 0.080113 NA NA 0.810282 0.710325 NA 0.601 NA 5.2687846 1133 2 235949920 235949920 A G exonic SH3BP4 NA synonymous SNV SH3BP4:NM_014521:exon4:c.A507G:p.P169P exonic ENSG00000130147 NA synonymous SNV ENSG00000130147:ENST00000344528:exon4:c.A507G:p.P169P,ENSG00000130147:ENST00000392011:exon4:c.A507G:p.P169P,ENSG00000130147:ENST00000409212:exon4:c.A507G:p.P169P,ENSG00000130147:ENST00000446904:exon4:c.A507G:p.P169P NA NA 2q37.2 NA NA NA NA rs3731645 0.29 0.29 0.282 0.330871 0.0915 0.4127 0.3372 0.4002 0.3947 0.1 0.44 0.27 0.41 0.203 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.562581 NA NA 0.10407 0.366546 ID=COSM149106;OCCURENCE=1(stomach) 0.341 NA 5.2680966 1133 X 86887244 86887244 C T exonic KLHL4 NA synonymous SNV KLHL4:NM_019117:exon7:c.C1359T:p.T453T,KLHL4:NM_057162:exon7:c.C1359T:p.T453T exonic ENSG00000102271 NA synonymous SNV ENSG00000102271:ENST00000373114:exon7:c.C1359T:p.T453T,ENSG00000102271:ENST00000373119:exon7:c.C1359T:p.T453T Score=383;Name=lod=48 NA Xq21.31 NA NA NA NA rs222084 0.59 0.59 0.63275 NA NA NA NA NA NA 0.75 0.57 0.46 0.45 0.6555 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 0.651823 NA NA 0.743163 0.441199 NA 0.478 NA 5.2680036 1133 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 1133 10 99129230 99129230 T C exonic RRP12 NA synonymous SNV RRP12:NM_001145114:exon23:c.A2724G:p.A908A,RRP12:NM_015179:exon25:c.A2907G:p.A969A exonic ENSG00000052749 NA synonymous SNV ENSG00000052749:ENST00000536831:exon19:c.A2061G:p.A687A,ENSG00000052749:ENST00000315563:exon22:c.A2607G:p.A869A,ENSG00000052749:ENST00000414986:exon23:c.A2724G:p.A908A,ENSG00000052749:ENST00000370992:exon25:c.A2907G:p.A969A NA NA 10q24.1 NA NA NA NA rs6584122 0.14 0.14 0.138 0.14976 0.1203 0.1488 0.1297 0.2179 0.1033 0.13 0.15 0.1 0.19 0.1533 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.14731 NA NA 0.125465 0.202451 NA 0.152 NA 5.2676016 1133 2 113943470 113943470 A G exonic PSD4 NA synonymous SNV PSD4:NM_012455:exon5:c.A1266G:p.G422G exonic ENSG00000125637 NA synonymous SNV ENSG00000125637:ENST00000245796:exon5:c.A1266G:p.G422G NA NA 2q13 NA NA Name=11 NA rs2241976 0.58 0.58 0.555 0.577476 0.4523 0.6012 0.5187 0.7352 0.5102 0.47 0.62 0.53 0.75 0.5293 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 -1.09282 NA NA 0.418023 0.689968 NA 0.616 NA 5.2670436 1133 1 160793442 160793442 A G exonic LY9 NA synonymous SNV LY9:NM_001261457:exon7:c.A1416G:p.V472V,LY9:NM_001261456:exon8:c.A1644G:p.V548V,LY9:NM_002348:exon8:c.A1686G:p.V562V exonic ENSG00000122224 NA synonymous SNV ENSG00000122224:ENST00000368035:exon5:c.A600G:p.V200V,ENSG00000122224:ENST00000368041:exon7:c.A1296G:p.V432V,ENSG00000122224:ENST00000263285:exon8:c.A1686G:p.V562V,ENSG00000122224:ENST00000341032:exon8:c.A1284G:p.V428V,ENSG00000122224:ENST00000368037:exon8:c.A1551G:p.V517V,ENSG00000122224:ENST00000368040:exon8:c.A600G:p.V200V NA NA 1q23.3 NA Name=Pol2 NA NA rs474131 0.61 0.61 0.616 0.632188 0.4493 0.7034 0.6643 0.6884 0.6483 0.45 0.71 0.64 0.73 0.5295 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 -0.178284 NA NA 0.421512 0.636632 NA 0.659 NA 5.2663546 1133 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 1133 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 1133 7 120740103 120740103 G T exonic CPED1 NA synonymous SNV CPED1:NM_001105533:exon6:c.G873T:p.T291T,CPED1:NM_024913:exon7:c.G873T:p.T291T exonic ENSG00000106034 NA synonymous SNV ENSG00000106034:ENST00000443817:exon3:c.G213T:p.T71T,ENSG00000106034:ENST00000423795:exon4:c.G213T:p.T71T,ENSG00000106034:ENST00000428526:exon6:c.G873T:p.T291T,ENSG00000106034:ENST00000450913:exon6:c.G873T:p.T291T,ENSG00000106034:ENST00000310396:exon7:c.G873T:p.T291T Score=599;Name=lod=361 NA 7q31.31 Score=823;Name=V$MEIS1AHOXA9_01 NA NA NA rs798937 0.8 0.8 0.777 0.774161 0.7992 0.9633 0.8617 0.6021 0.7239 0.79 0.96 0.87 0.59 0.8003 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 0.830781 NA NA 0.801977 0.652292 NA 0.775 NA 5.2651896 1133 2 218940418 218940418 C T exonic RUFY4 NA synonymous SNV RUFY4:NM_198483:exon9:c.C1203T:p.A401A exonic ENSG00000188282 NA synonymous SNV ENSG00000188282:ENST00000374155:exon8:c.C1263T:p.A421A,ENSG00000188282:ENST00000344321:exon9:c.C1203T:p.A401A NA NA 2q35 NA NA NA NA rs4674246 0.14 0.14 0.146 0.169129 0.1372 0.1508 0.111 0.152 0.2853 0.13 0.15 0.1 0.18 0.142 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.857834 NA NA 0.122361 0.126497 NA 0.123 NA 5.2651056 1133 17 67260926 67260926 A G exonic ABCA5 NA synonymous SNV ABCA5:NM_018672:exon23:c.T3265C:p.L1089L,ABCA5:NM_172232:exon24:c.T3265C:p.L1089L exonic ENSG00000154265 NA synonymous SNV ENSG00000154265:ENST00000586811:exon3:c.T163C:p.L55L,ENSG00000154265:ENST00000588877:exon23:c.T3265C:p.L1089L,ENSG00000154265:ENST00000392676:exon24:c.T3265C:p.L1089L,ENSG00000154265:ENST00000392677:exon24:c.T3268C:p.L1090L Score=551;Name=lod=232 NA 17q24.3 NA NA NA NA rs12449649 0.38 0.38 0.353 0.379393 0.493 0.4058 0.353 0.1823 0.5204 0.5 0.37 0.42 0.16 0.4368 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911868 NA NA 0.471834 0.233772 NA 0.362 NA 5.2650326 1134 1 154573967 154573967 T C exonic ADAR NA nonsynonymous SNV ADAR:NM_001025107:exon2:c.A266G:p.K89R,ADAR:NM_001111:exon2:c.A1151G:p.K384R,ADAR:NM_001193495:exon2:c.A266G:p.K89R,ADAR:NM_015840:exon2:c.A1151G:p.K384R,ADAR:NM_015841:exon2:c.A1151G:p.K384R exonic ENSG00000160710 NA nonsynonymous SNV ENSG00000160710:ENST00000529168:exon1:c.A1136G:p.K379R,ENSG00000160710:ENST00000292205:exon2:c.A1280G:p.K427R,ENSG00000160710:ENST00000368471:exon2:c.A266G:p.K89R,ENSG00000160710:ENST00000368474:exon2:c.A1151G:p.K384R NA NA 1q21.3 NA NA NA NA rs2229857 0.62 0.62 0.592 0.622604 0.673 0.6687 0.7579 0.3691 0.7699 0.67 0.69 0.75 0.37 0.6956 0.75 0.42 T 0.001 B 0.001 B 0.020 N 1.000 P 1.1 L 2.73 T -0.976 T 0.009 T 0.021 1.461 10.83 -0.812 -0.036 -0.342 4.899 1.460707 1.460707 0.47 0.699767 0.428507 NA 0.616 NA 5.2649664 1134 11 20101769 20101769 C T intronic NAV2 NA NA NA intronic ENSG00000166833 NA NA NA NA NA 11p15.1 NA Name=GATA-1,ELF1_(SC-631),Pol2-4H8,GABP,EBF1_(C-8),HDAC2_(SC-6296),GATA-2,GATA2_(CG2-96),EBF,Egr-1,PAX5-C20,NRSF,eGFP-JunD,TAL1_(SC-12984),BATF Name=3 NA rs3758695 0.35 0.35 0.348 0.326877 0.2336 0.5873 0.3862 0.2685 0.1912 0.23 0.58 0.34 0.28 0.2811 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228462 NA NA 0.220349 0.244666 NA 0.377 NA 5.264951 1134 3 46063329 46063329 T C exonic XCR1 NA synonymous SNV XCR1:NM_001024644:exon2:c.A111G:p.L37L,XCR1:NM_005283:exon3:c.A111G:p.L37L exonic ENSG00000173578 NA synonymous SNV ENSG00000173578:ENST00000309285:exon2:c.A111G:p.L37L,ENSG00000173578:ENST00000542109:exon3:c.A111G:p.L37L NA NA 3p21.31 NA NA NA NA rs2230322 0.17 0.17 0.189 0.232827 0.1243 0.0466 0.0908 0.4425 0.3538 0.14 0.06 0.09 0.4 0.1646 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.046609 NA NA 0.112907 0.395824 NA 0.196 NA 5.2648596 1134 19 4859937 4859937 T C exonic PLIN3 NA nonsynonymous SNV PLIN3:NM_001164189:exon3:c.A166G:p.I56V,PLIN3:NM_001164194:exon3:c.A166G:p.I56V,PLIN3:NM_005817:exon3:c.A166G:p.I56V exonic ENSG00000105355 NA nonsynonymous SNV ENSG00000105355:ENST00000589034:exon2:c.A73G:p.I25V,ENSG00000105355:ENST00000221957:exon3:c.A166G:p.I56V,ENSG00000105355:ENST00000585479:exon3:c.A166G:p.I56V,ENSG00000105355:ENST00000592528:exon3:c.A166G:p.I56V,ENSG00000105355:ENST00000589494:exon4:c.A229G:p.I77V NA NA 19p13.3 NA NA NA NA rs8289 0.59 0.59 0.614 0.633786 0.661 0.5129 0.6254 0.6437 0.7229 0.66 0.53 0.56 0.6 0.6795 0.73 0.76 T 0.0 B 0.0 B 0.009 N 1.000 P -1.52 N 3.58 T -1.070 T 0.000 T 0.018 -2.137 0.005 1.26 0.073 -0.510 5.088 -2.137034 NA 0.78 0.72814 0.669315 ID=COSM439886;OCCURENCE=1(breast) 0.514 NA 5.2646934 1134 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 1134 16 16278869 16278869 G C exonic ABCC6 NA synonymous SNV ABCC6:NM_001171:exon15:c.C1890G:p.T630T exonic ENSG00000091262 NA synonymous SNV ENSG00000091262:ENST00000205557:exon15:c.C1890G:p.T630T,ENSG00000091262:ENST00000456970:exon15:c.C1890G:p.T630T NA NA 16p13.11 NA Name=CEBPB NA NA rs8058696 0.36 0.36 0.36 0.332668 0.4861 0.1627 0.4769 0.3245 0.2587 0.49 0.17 0.45 0.32 0.4152 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141402 NA NA 0.501512 0.358216 NA 0.333 NA 5.2638546 1134 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 1134 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 1134 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 1134 17 39340852 39340852 G A intronic KRTAP4-1 NA NA NA exonic ENSG00000198443 NA synonymous SNV ENSG00000198443:ENST00000398472:exon1:c.C255T:p.R85R Score=340;Name=lod=32 NA 17q21.2 NA NA NA NA rs2320230 0.72 0.72 0.91 0.583267 0.5706 0.5536 0.5504 0.5855 0.6472 0.7 0.76 0.79 0.68 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 0.96809 NA NA NA NA NA 0.029 NA 5.2627333 1134 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 1134 10 50121721 50121721 G A exonic LRRC18 NA synonymous SNV LRRC18:NM_001006939:exon1:c.C480T:p.P160P exonic ENSG00000165383 NA synonymous SNV ENSG00000165383:ENST00000374160:exon1:c.C480T:p.P160P,ENSG00000165383:ENST00000298124:exon2:c.C480T:p.P160P NA NA 10q11.23 NA NA NA NA rs35986885 0.11 0.11 0.111 0.117212 0.1441 0.002 0.0951 0.1604 0.1656 0.15 0.0017 0.12 0.16 0.1208 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.508451 NA NA 0.139767 0.157059 NA 0.152 NA 5.2619996 1134 10 50121760 50121760 G A exonic LRRC18 NA synonymous SNV LRRC18:NM_001006939:exon1:c.C441T:p.H147H exonic ENSG00000165383 NA synonymous SNV ENSG00000165383:ENST00000374160:exon1:c.C441T:p.H147H,ENSG00000165383:ENST00000298124:exon2:c.C441T:p.H147H NA NA 10q11.23 NA NA NA NA rs41283291 0.11 0.11 0.122 0.113818 0.1451 0.002 0.0937 0.1475 0.1656 0.15 0.0017 0.12 0.15 0.1198 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.361786 NA NA 0.140116 0.143441 NA 0.152 NA 5.2616506 1134 19 55624113 55624113 G A exonic PPP1R12C NA synonymous SNV PPP1R12C:NM_001271618:exon2:c.C372T:p.G124G,PPP1R12C:NM_017607:exon2:c.C372T:p.G124G exonic ENSG00000125503 NA synonymous SNV ENSG00000125503:ENST00000263433:exon2:c.C372T:p.G124G,ENSG00000125503:ENST00000376393:exon2:c.C372T:p.G124G,ENSG00000125503:ENST00000435544:exon2:c.C150T:p.G50G NA NA 19q13.42 NA NA NA NA rs34521018 0.12 0.12 0.126 0.153754 0.1362 0.1101 0.1254 0.1051 0.3027 0.14 0.12 0.12 0.09 0.1504 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.156627 NA NA 0.118488 0.106219 NA 0.181 NA 5.2615786 1134 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 1134 9 140100224 140100224 A G UTR5 NDOR1 NM_001144026:c.-6A>G,NM_014434:c.-6A>G,NM_001144028:c.-6A>G,NM_001144027:c.-6A>G NA NA UTR5 ENSG00000188566 ENST00000344894:c.-6A>G,ENST00000371521:c.-6A>G,ENST00000427047:c.-6A>G,ENST00000458322:c.-6A>G NA NA NA NA 9q34.3 NA Name=HA-E2F1,Pol2,HDAC2_(SC-6296),TAF7_(SQ-8),GABP,Pol2-4H8,TAF1,ZEB1_(SC-25388),RFX5_(N-494),NFKB,ATF3,ELF1_(SC-631),GRp20,HEY1,HNF4G_(SC-6558),c-Myc,IRF1,SP1,SRF,Max,NRSF,Mxi1_(bHLH),PAX5-C20,Sin3Ak-20,SIX5,BRCA1_(C-1863),YY1,ZBTB7A_(SC-34508),ELK4,Egr-1,CCNT2,TBP Name=144 NA rs7032361 0.34 0.34 0.308 0.359425 0.3658 0.3065 0.2954 0.41 0.3845 0.37 0.28 0.29 0.39 0.3601 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.573382 NA NA 0.347199 0.383303 NA 0.304 NA 5.2602344 1134 6 25600968 25600968 G A exonic LRRC16A NA synonymous SNV LRRC16A:NM_001173977:exon33:c.G3546A:p.A1182A,LRRC16A:NM_017640:exon33:c.G3546A:p.A1182A exonic ENSG00000079691 NA synonymous SNV ENSG00000079691:ENST00000329474:exon33:c.G3546A:p.A1182A NA NA 6p22.2 Score=815;Name=V$GRE_C NA NA NA rs10456324 0.4 0.4 0.403 0.405351 0.4632 0.372 0.4179 0.3404 0.4591 0.47 0.36 0.44 0.33 0.4811 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.089981 NA NA 0.462201 0.343407 ID=COSM1131966;OCCURENCE=1(prostate) 0.355 NA 5.2601656 1134 1 111825261 111825261 G A ncRNA_exonic CHIAP2 NA NA NA ncRNA_exonic ENSG00000203878 NA NA NA Score=522;Name=lod=176 NA 1p13.2 NA NA NA NA rs4418594 0.42 0.42 0.366 0.417732 0.4066 0.5248 0.5331 0.2746 0.4305 0.41 0.48 0.53 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 2.448547 2.448547 NA NA NA NA 0.297 NA 5.2600666 1134 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 1134 6 24505221 24505221 G A intronic ALDH5A1 NA NA NA intronic ENSG00000112294 NA NA NA NA NA 6p22.3 NA Name=HNF4A_(H-171),FOXA2_(SC-6554),RXRA,HNF4G_(SC-6558),FOXA1_(SC-101058),FOXA1_(C-20),FOSL2,HDAC2_(SC-6296) Name=12 NA rs2817220 0.2 0.2 0.191 0.192692 0.2555 0.0923 0.17 0.2655 0.1493 0.26 0.09 0.2 0.23 0.2241 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41785 NA NA 0.260814 0.260781 NA 0.268 NA 5.259586 1134 11 66263243 66263243 C T intronic DPP3 NA NA NA intronic ENSG00000254986 NA NA NA NA NA 11q13.2 NA Name=CTCFL_(SC-98982),Rad21,CTCF_(C-20),CTCF_(SC-5916),CTCF Name=6 NA rs11227495 0.23 0.23 0.206 0.21246 0.2396 0.3036 0.1614 0.1483 0.2137 0.25 0.3 0.2 0.12 0.2769 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333498 NA NA 0.224021 0.128708 NA 0.203 NA 5.259479 1134 20 62126299 62126299 C T exonic EEF1A2 NA synonymous SNV EEF1A2:NM_001958:exon4:c.G480A:p.P160P exonic ENSG00000101210 NA synonymous SNV ENSG00000101210:ENST00000298049:exon3:c.G480A:p.P160P,ENSG00000101210:ENST00000217182:exon4:c.G480A:p.P160P NA NA 20q13.33 NA NA NA NA rs2274860 0.19 0.19 0.17 0.140176 0.1392 0.4286 0.1095 0.0068 0.046 0.13 0.45 0.12 0.01 0.1354 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.816702 NA NA 0.132791 0.033394 NA 0.072 NA 5.2592756 1134 4 154216710 154216710 G A exonic TRIM2 NA synonymous SNV TRIM2:NM_001130067:exon6:c.G951A:p.T317T,TRIM2:NM_015271:exon6:c.G1032A:p.T344T exonic ENSG00000109654 NA synonymous SNV ENSG00000109654:ENST00000338700:exon6:c.G1032A:p.T344T,ENSG00000109654:ENST00000437508:exon6:c.G951A:p.T317T Score=278;Name=lod=18 NA 4q31.3 NA NA NA NA rs893805 0.43 0.43 0.435 0.455272 0.4563 0.1786 0.4049 0.6536 0.5072 0.46 0.2 0.4 0.68 0.4721 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.985909 NA NA 0.47907 0.628688 ID=COSM1131224;OCCURENCE=1(prostate) 0.536 NA 5.2591966 1134 17 3436080 3436080 C T exonic TRPV3 NA synonymous SNV TRPV3:NM_001258205:exon8:c.G936A:p.T312T,TRPV3:NM_145068:exon8:c.G936A:p.T312T exonic ENSG00000167723 NA synonymous SNV ENSG00000167723:ENST00000301365:exon8:c.G936A:p.T312T,ENSG00000167723:ENST00000572519:exon8:c.G936A:p.T312T,ENSG00000167723:ENST00000576742:exon8:c.G936A:p.T312T NA NA 17p13.2 Score=941;Name=V$TCF11_01 NA NA NA rs395357 0.35 0.35 0.363 0.35603 0.4901 0.254 0.281 0.3328 0.408 0.49 0.24 0.31 0.31 0.4269 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.950274 NA NA 0.491163 0.345892 NA 0.449 NA 5.2585036 1134 17 8048169 8048169 T C exonic PER1 NA synonymous SNV PER1:NM_002616:exon18:c.A2361G:p.T787T exonic ENSG00000179094 NA synonymous SNV ENSG00000179094:ENST00000583559:exon2:c.A210G:p.T70T,ENSG00000179094:ENST00000581082:exon17:c.A2301G:p.T767T,ENSG00000179094:ENST00000317276:exon18:c.A2361G:p.T787T,ENSG00000179094:ENST00000354903:exon18:c.A2313G:p.T771T,ENSG00000179094:ENST00000582719:exon18:c.A2361G:p.T787T Score=602;Name=lod=373 NA 17p13.1 NA Name=Pol2 NA NA rs2253820 0.59 0.59 0.585 0.570288 0.8241 0.2847 0.5029 0.5061 0.7382 0.84 0.3 0.58 0.54 0.7486 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 1.560263 1.560263 NA 0.836047 0.55379 NA 0.536 NA 5.2579196 1134 15 65236875 65236875 T C exonic ANKDD1A NA synonymous SNV ANKDD1A:NM_182703:exon12:c.T1092C:p.A364A exonic ENSG00000166839 NA synonymous SNV ENSG00000166839:ENST00000487867:exon9:c.T819C:p.A273A,ENSG00000166839:ENST00000380230:exon12:c.T1092C:p.A364A,ENSG00000166839:ENST00000395720:exon12:c.T1092C:p.A364A Score=461;Name=lod=100 NA 15q22.31 NA NA NA NA rs2414865 0.49 0.49 0.51 0.552915 0.4463 0.3909 0.3573 0.7489 0.7035 0.43 0.4 0.4 0.76 0.5024 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 1.506325 1.506325 NA 0.460921 0.715259 NA 0.428 NA 5.2570456 1134 7 48450157 48450157 T C exonic ABCA13 NA synonymous SNV ABCA13:NM_152701:exon40:c.T12111C:p.A4037A exonic ENSG00000179869 NA synonymous SNV ENSG00000179869:ENST00000435803:exon40:c.T12111C:p.A4037A NA NA 7p12.3 Score=783;Name=V$TCF11MAFG_01 NA NA NA rs17548783 0.52 0.52 0.481 0.46266 0.4692 0.5784 0.5202 0.4614 0.2975 0.47 0.62 0.54 0.46 0.4734 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.948007 NA NA 0.467157 0.464527 NA 0.551 NA 5.2569096 1134 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 1134 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 1134 16 1836796 1836796 C A exonic NUBP2 NA synonymous SNV NUBP2:NM_012225:exon3:c.C174A:p.I58I exonic ENSG00000095906 NA nonsynonymous SNV ENSG00000095906:ENST00000563136:exon3:c.C193A:p.P65T Score=552;Name=lod=233 NA 16p13.3 NA NA NA NA rs2235648 0.52 0.52 0.526 0.49401 0.5885 0.4097 0.6095 0.5477 0.3292 0.58 0.4 0.62 0.51 0.5512 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.72179 NA NA 0.604142 0.550137 ID=COSM434733;OCCURENCE=1(breast),1(large_intestine) 0.522 NA 5.256158 1134 9 140865989 140865989 A T exonic CACNA1B NA synonymous SNV CACNA1B:NM_000718:exon11:c.A1488T:p.T496T,CACNA1B:NM_001243812:exon11:c.A1488T:p.T496T exonic ENSG00000148408 NA synonymous SNV ENSG00000148408:ENST00000277551:exon11:c.A1488T:p.T496T,ENSG00000148408:ENST00000371355:exon11:c.A1491T:p.T497T,ENSG00000148408:ENST00000371357:exon11:c.A1491T:p.T497T,ENSG00000148408:ENST00000371363:exon11:c.A1488T:p.T496T,ENSG00000148408:ENST00000371372:exon11:c.A1488T:p.T496T NA NA 9q34.3 NA NA NA NA rs2229951 0.07 0.07 0.069 0.0658946 0.1491 0.0446 0.0476 0.0068 0.0951 0.16 0.03 0.06 0.01 0.1209 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032538 NA NA 0.140647 0.029317 ID=COSM455669;OCCURENCE=1(breast) 0.101 NA 5.2560196 1134 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 1135 9 19576949 19576949 T G exonic SLC24A2 NA synonymous SNV SLC24A2:NM_001193288:exon4:c.A1150C:p.R384R,SLC24A2:NM_020344:exon5:c.A1201C:p.R401R exonic ENSG00000155886 NA synonymous SNV ENSG00000155886:ENST00000286344:exon4:c.A1150C:p.R384R,ENSG00000155886:ENST00000341998:exon5:c.A1201C:p.R401R Score=587;Name=lod=323 NA 9p22.1 Score=875;Name=V$YY1_01 NA NA NA rs2383101 0.85 0.85 0.821 0.865615 0.7833 1 0.8473 0.7791 0.9417 0.79 1 0.83 0.79 0.841 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.812078 NA NA 0.787558 0.786882 NA 0.899 NA 5.2548086 1135 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 1135 6 30080274 30080274 G A exonic TRIM31 NA synonymous SNV TRIM31:NM_007028:exon2:c.C309T:p.H103H exonic ENSG00000204616 NA synonymous SNV ENSG00000204616:ENST00000376734:exon2:c.C309T:p.H103H,ENSG00000204616:ENST00000540829:exon2:c.C309T:p.H103H NA NA 6p22.1 NA NA NA NA rs2517598 0.11 0.11 0.106 0.121006 0.1252 0.0873 0.1297 0.093 0.183 0.13 0.08 0.15 0.09 0.1422 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.363748 NA NA 0.144887 0.101257 NA 0.13 NA 5.2543796 1135 12 311949 311949 A G exonic SLC6A12 NA synonymous SNV SLC6A12:NM_001206931:exon4:c.T447C:p.T149T,SLC6A12:NM_001122847:exon5:c.T447C:p.T149T,SLC6A12:NM_001122848:exon5:c.T447C:p.T149T,SLC6A12:NM_003044:exon6:c.T447C:p.T149T exonic ENSG00000111181 NA synonymous SNV ENSG00000111181:ENST00000397296:exon4:c.T447C:p.T149T,ENSG00000111181:ENST00000536824:exon4:c.T447C:p.T149T,ENSG00000111181:ENST00000359674:exon5:c.T447C:p.T149T,ENSG00000111181:ENST00000428720:exon5:c.T447C:p.T149T,ENSG00000111181:ENST00000424061:exon6:c.T447C:p.T149T Score=546;Name=lod=221 NA 12p13.33 NA NA NA NA rs216250 0.6 0.6 0.598 0.616014 0.4632 0.6339 0.5908 0.767 0.5685 0.47 0.63 0.58 0.77 0.5061 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 1.565401 1.565401 NA 0.44314 0.695642 NA 0.529 NA 5.2542266 1135 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 1135 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 1135 17 79589242 79589242 G A exonic NPLOC4 NA synonymous SNV NPLOC4:NM_017921:exon3:c.C159T:p.T53T exonic ENSG00000182446 NA synonymous SNV ENSG00000182446:ENST00000331134:exon3:c.C159T:p.T53T,ENSG00000182446:ENST00000374747:exon3:c.C159T:p.T53T,ENSG00000182446:ENST00000574897:exon3:c.C159T:p.T53T Score=616;Name=lod=424 NA 17q25.3 NA NA NA NA rs6565604 0.6 0.6 0.577 0.642772 0.4076 0.7768 0.6628 0.7065 0.6462 0.41 0.78 0.61 0.67 0.5472 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 1.131192 NA NA 0.458669 0.677575 NA 0.558 NA 5.2531976 1135 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 1135 2 170103351 170103351 G T exonic LRP2 NA synonymous SNV LRP2:NM_004525:exon21:c.C3054A:p.T1018T exonic ENSG00000081479 NA synonymous SNV ENSG00000081479:ENST00000443831:exon19:c.C2643A:p.T881T,ENSG00000081479:ENST00000263816:exon21:c.C3054A:p.T1018T NA NA 2q31.1 NA NA NA NA rs2075249 0.42 0.42 0.371 0.45647 0.4632 0.4792 0.5591 0.208 0.6892 0.47 0.46 0.54 0.21 0.4921 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.344735 NA NA 0.458837 0.292329 NA 0.391 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117523.2;CLNDSDB=.;CLNDSDBID=. 5.2525296 1135 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 1135 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 1135 6 32337630 32337630 G A intronic C6orf10 NA NA NA intronic ENSG00000204296 NA NA NA NA Name=Graves' disease 6p21.32 NA Name=c-Fos,CEBPB,JunD,Rad21,p300_(N-15),STAT3,RFX5_(N-494),c-Jun,GATA-2 Name=108 NA rs2273017 0.52 0.52 0.51 0.503195 0.5686 0.6121 0.5937 0.2572 0.592 0.59 0.61 0.56 0.27 0.587 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026815 NA NA 0.592285 0.29702 NA 0.558 NA 5.252115 1135 16 2812890 2812890 A G exonic SRRM2 NA synonymous SNV SRRM2:NM_016333:exon11:c.A2361G:p.K787K exonic ENSG00000167978 NA synonymous SNV ENSG00000167978:ENST00000571378:exon10:c.A2073G:p.K691K,ENSG00000167978:ENST00000301740:exon11:c.A2361G:p.K787K,ENSG00000167978:ENST00000576924:exon11:c.A2361G:p.K787K Score=378;Name=lod=46 NA 16p13.3 Score=971;Name=V$FOXO1_01 NA NA NA rs2240141 0.68 0.68 0.643 0.674321 0.8151 0.4464 0.853 0.6346 0.6912 0.82 0.41 0.85 0.64 0.768 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 -1.58416 NA NA 0.831628 0.681529 NA 0.746 NA 5.2519386 1135 9 139371234 139371234 G A exonic SEC16A NA synonymous SNV SEC16A:NM_001276418:exon2:c.C834T:p.D278D,SEC16A:NM_014866:exon3:c.C834T:p.D278D exonic ENSG00000148396 NA synonymous SNV ENSG00000148396:ENST00000290037:exon1:c.C300T:p.D100D,ENSG00000148396:ENST00000313050:exon1:c.C834T:p.D278D,ENSG00000148396:ENST00000371706:exon1:c.C300T:p.D100D,ENSG00000148396:ENST00000431893:exon1:c.C300T:p.D100D NA NA 9q34.3 NA NA NA NA rs10781497 0.14 0.14 0.114 0.138978 0.1233 0.1577 0.2997 0.0386 0.1575 0.13 0.14 0.25 0.07 0.1513 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15672 NA NA 0.140328 0.055102 NA 0.094 NA 5.2517386 1135 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$GATA1_02 NA NA NA rs3750945 0.75 0.75 0.741 0.728035 0.8161 0.9593 0.8055 0.3555 0.8476 0.81 0.96 0.84 0.36 0.7924 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.942249 NA NA 0.807612 0.417765 NA 0.746 NA 5.2505546 1135 19 2732986 2732986 T C exonic SLC39A3 NA synonymous SNV SLC39A3:NM_144564:exon3:c.A708G:p.V236V exonic ENSG00000141873 NA synonymous SNV ENSG00000141873:ENST00000269740:exon3:c.A708G:p.V236V,ENSG00000141873:ENST00000545664:exon3:c.A708G:p.V236V Score=439;Name=lod=81 NA 19p13.3 NA NA NA NA rs759073 0.58 0.58 0.608 0.625399 0.4414 0.6468 0.3905 0.907 0.5787 0.42 0.67 0.38 0.87 0.5234 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.539069 NA NA 0.451714 0.836144 ID=COSM439145;OCCURENCE=1(breast) 0.529 NA 5.2501526 1135 5 156590355 156590355 A G exonic FAM71B NA synonymous SNV FAM71B:NM_130899:exon2:c.T921C:p.G307G exonic ENSG00000170613 NA synonymous SNV ENSG00000170613:ENST00000302938:exon2:c.T921C:p.G307G NA NA 5q33.3 NA NA NA NA rs31220 0.15 0.15 0.168 0.152356 0.1372 0.0139 0.1138 0.3631 0.0532 0.13 0.02 0.11 0.38 0.1316 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.023914 NA NA 0.147791 0.336586 NA 0.123 NA 5.2500756 1135 1 19202896 19202896 G A exonic ALDH4A1 NA synonymous SNV ALDH4A1:NM_001161504:exon12:c.C1071T:p.A357A,ALDH4A1:NM_003748:exon12:c.C1251T:p.A417A,ALDH4A1:NM_170726:exon12:c.C1251T:p.A417A exonic ENSG00000159423 NA synonymous SNV ENSG00000159423:ENST00000290597:exon12:c.C1251T:p.A417A,ENSG00000159423:ENST00000375341:exon12:c.C1251T:p.A417A,ENSG00000159423:ENST00000538309:exon12:c.C1071T:p.A357A NA NA 1p36.13 Score=769;Name=V$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 1135 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 1135 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 1135 5 766939 766939 G A intergenic TPPP,ZDHHC11 dist=73429;dist=28781 NA NA exonic ENSG00000206077 NA synonymous SNV ENSG00000206077:ENST00000382776:exon1:c.C96T:p.N32N,ENSG00000206077:ENST00000508859:exon1:c.C129T:p.N43N Score=397;Name=lod=55 NA 5p15.33 NA NA NA NA rs4957103 0.25 0.25 0.216 NA NA NA NA NA NA 0.29 0.17 0.23 0.28 0.2514 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.684144 NA NA NA NA ID=COSM450069;OCCURENCE=1(breast) 0.246 NA 5.2486 1135 12 118020115 118020115 G A exonic KSR2 NA synonymous SNV KSR2:NM_173598:exon6:c.C1134T:p.L378L exonic ENSG00000171435 NA synonymous SNV ENSG00000171435:ENST00000302438:exon4:c.C312T:p.L104L,ENSG00000171435:ENST00000339824:exon6:c.C1221T:p.L407L,ENSG00000171435:ENST00000425217:exon6:c.C1134T:p.L378L Score=564;Name=lod=262 NA 12q24.22 NA NA NA NA rs11068551 0.41 0.41 0.386 0.399161 0.4742 0.5486 0.4611 0.115 0.5082 0.48 0.53 0.45 0.15 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 1.150129 NA NA 0.478389 0.159403 NA 0.341 NA 5.2484776 1135 16 3304573 3304573 G T exonic MEFV NA synonymous SNV MEFV:NM_000243:exon2:c.C495A:p.A165A exonic ENSG00000103313 NA synonymous SNV ENSG00000103313:ENST00000219596:exon2:c.C495A:p.A165A,ENSG00000103313:ENST00000537682:exon2:c.C495A:p.A165A,ENSG00000103313:ENST00000538326:exon2:c.C495A:p.A165A,ENSG00000103313:ENST00000542898:exon2:c.C495A:p.A165A,ENSG00000103313:ENST00000570511:exon2:c.C495A:p.A165A NA NA 16p13.3 NA NA NA NA rs224223 0.43 0.43 0.358 0.386382 0.4732 0.1667 0.5965 0.528 0.183 0.47 0.19 0.57 0.54 0.4907 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.288161 NA NA 0.45461 0.491163 ID=COSM1128970;OCCURENCE=1(prostate) 0.399 CLINSIG=non-pathogenic;CLNDBN=Familial_Mediterranean_fever;CLNREVSTAT=single;CLNACC=RCV000030184.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1227:C0031069:249100:ORPHA342:12579009 5.2481566 1135 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 1135 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 1135 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 1135 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 1135 1 7890064 7890064 A G exonic PER3 NA synonymous SNV PER3:NM_016831:exon18:c.A3030G:p.T1010T exonic ENSG00000049246 NA synonymous SNV ENSG00000049246:ENST00000361923:exon18:c.A3030G:p.T1010T,ENSG00000049246:ENST00000377532:exon18:c.A3057G:p.T1019T NA NA 1p36.23 NA NA NA NA rs12023156 0.27 0.27 0.271 0.244808 0.2863 0.1478 0.2118 0.2421 0.3292 0.33 0.21 0.28 0.26 0.1347 0.33 . . . . . . . . 1.000 P . . . . . . . . . -0.462 1.865 0.119 0.235 0.651 . -0.461664 NA NA NA NA NA NA NA 5.2456666 1135 1 160990876 160990876 C A UTR5 F11R NM_016946:c.-13G>T NA NA UTR5;UTR3 ENSG00000158769;ENSG00000270149 ENST00000368026:c.-13G>T,ENST00000537746:c.-13G>T;ENST00000289779:c.*29G>T,ENST00000470694:c.*29G>T NA NA NA NA 1q23.3 Score=704;Name=V$HOX13_01 Name=Pol2,ZEB1_(SC-25388),TAF1,Pol2-4H8,HEY1,NF-YA,Sin3Ak-20,TBP,NF-YB NA NA rs28365979 0.45 0.45 0.049 0.6252 0.498 0.6329 0.5216 0.767 0.6299 0.37 0.53 0.44 0.5 0.5526 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.491795 1.491795 NA 0.037093 0.062869 NA NA NA 5.2456404 1135 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 1135 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 1135 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 1136 14 35062312 35062312 C T exonic SNX6 NA synonymous SNV SNX6:NM_021249:exon7:c.G309A:p.E103E,SNX6:NM_152233:exon8:c.G693A:p.E231E exonic ENSG00000129515 NA synonymous SNV ENSG00000129515:ENST00000396526:exon7:c.G309A:p.E103E,ENSG00000129515:ENST00000396534:exon7:c.G309A:p.E103E,ENSG00000129515:ENST00000557265:exon7:c.G582A:p.E194E,ENSG00000129515:ENST00000362031:exon8:c.G693A:p.E231E,ENSG00000129515:ENST00000355110:exon9:c.G321A:p.E107E Score=669;Name=lod=696 NA 14q13.1 NA NA NA Score=93;Name=699012_0_-_93 rs12432539 0.79 0.79 0.788 0.773163 0.8042 0.8115 0.8487 0.6581 0.8037 0.81 0.84 0.83 0.69 0.8071 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 0.893017 NA NA 0.810798 0.701408 NA 0.717 NA 5.2445686 1136 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 1136 19 18376517 18376517 C T exonic KIAA1683 NA synonymous SNV KIAA1683:NM_001145304:exon3:c.G1833A:p.Q611Q,KIAA1683:NM_001145305:exon3:c.G1695A:p.Q565Q,KIAA1683:NM_025249:exon3:c.G1833A:p.Q611Q exonic ENSG00000130518 NA synonymous SNV ENSG00000130518:ENST00000392413:exon3:c.G1833A:p.Q611Q,ENSG00000130518:ENST00000600328:exon3:c.G1833A:p.Q611Q,ENSG00000130518:ENST00000600359:exon3:c.G1695A:p.Q565Q NA NA 19p13.11 NA NA NA NA rs61740752 0.14 0.14 0.126 0.151957 0.1292 0.3036 0.1196 0.0257 0.2127 0.12 0.29 0.1 0.03 0.1568 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418381 NA NA 0.136163 0.040172 NA 0.094 NA 5.2445036 1136 19 39308190 39308190 C T exonic ECH1 NA synonymous SNV ECH1:NM_001398:exon4:c.G375A:p.S125S exonic ENSG00000104823,ENSG00000268083 NA synonymous SNV ENSG00000104823:ENST00000221418:exon4:c.G375A:p.S125S,ENSG00000104823:ENST00000595470:exon4:c.G375A:p.S125S NA NA 19q13.2 NA NA NA NA rs15570 0.12 0.12 0.133 0.180312 0.1282 0.1012 0.1225 0.2057 0.3221 0.13 0.09 0.1 0.18 0.1595 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.093686 NA NA 0.134651 0.199274 NA 0.232 NA 5.2443156 1136 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=CTCF,HA-E2F1,HMGN3,GABP,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 1136 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 1136 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 1136 2 226273689 226273689 T C exonic NYAP2 NA synonymous SNV NYAP2:NM_020864:exon2:c.T93C:p.Y31Y exonic ENSG00000144460 NA synonymous SNV ENSG00000144460:ENST00000409269:exon1:c.T93C:p.Y31Y,ENSG00000144460:ENST00000272907:exon2:c.T93C:p.Y31Y Score=690;Name=lod=850 NA 2q36.3 Score=727;Name=V$PAX4_04 NA NA NA rs2048936 0.8 0.8 0.796 0.756589 0.8171 0.5903 0.7781 0.9539 0.5838 0.83 0.61 0.82 0.96 0.7825 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 0.760852 NA NA 0.823915 0.930453 NA 0.906 NA 5.2431516 1136 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 1136 11 122022927 122022927 C T ncRNA_intronic MIR100HG NA NA NA downstream ENSG00000207994 NA NA NA Score=259;Name=lod=15 NA 11q24.1 NA NA Name=3 NA rs543412 0.34 0.34 0.359 0.352835 0.3022 0.4067 0.2277 0.3495 0.4427 0.3 0.43 0.24 0.35 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 0.076054 NA NA 0.301452 0.35769 NA 0.304 NA 5.2428146 1136 6 26501897 26501897 T C exonic BTN1A1 NA synonymous SNV BTN1A1:NM_001732:exon2:c.T159C:p.S53S exonic ENSG00000124557 NA synonymous SNV ENSG00000124557:ENST00000244513:exon2:c.T159C:p.S53S NA NA 6p22.2 NA NA Name=36 NA rs1321479 0.55 0.55 0.533 0.565895 0.4423 0.7312 0.5879 0.5136 0.5777 0.46 0.72 0.57 0.47 0.5156 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.408898 NA NA 0.466232 0.519082 ID=COSM1442687;OCCURENCE=1(large_intestine) 0.377 NA 5.2425346 1136 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 1136 17 80151881 80151881 G A exonic CCDC57 NA synonymous SNV CCDC57:NM_198082:exon5:c.C753T:p.D251D exonic ENSG00000176155 NA synonymous SNV ENSG00000176155:ENST00000389641:exon5:c.C753T:p.D251D,ENSG00000176155:ENST00000392347:exon5:c.C753T:p.D251D,ENSG00000176155:ENST00000392343:exon6:c.C753T:p.D251D NA NA 17q25.3 NA NA Name=2 NA rs4789722 0.62 0.62 0.595 0.598642 0.4821 0.8631 0.6282 0.525 0.5245 0.47 0.86 0.59 0.58 0.5186 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 0.129462 NA NA 0.423884 0.450102 NA 0.558 NA 5.2420826 1136 9 125920376 125920376 G A exonic STRBP NA synonymous SNV STRBP:NM_001171137:exon11:c.C918T:p.G306G,STRBP:NM_018387:exon11:c.C960T:p.G320G exonic ENSG00000165209 NA synonymous SNV ENSG00000165209:ENST00000447404:exon10:c.C960T:p.G320G,ENSG00000165209:ENST00000348403:exon11:c.C960T:p.G320G,ENSG00000165209:ENST00000360998:exon11:c.C918T:p.G306G Score=665;Name=lod=675 NA 9q33.3 Score=813;Name=V$ARP1_01 NA NA NA rs803736 0.49 0.49 0.437 0.483027 0.8529 0.2798 0.5461 0.0688 0.8272 0.87 0.24 0.6 0.11 0.7131 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 1.062307 NA NA 0.858953 0.177031 NA 0.507 NA 5.2417136 1136 19 51522286 51522286 C T intronic KLK10 NA NA NA intronic ENSG00000129451 NA NA NA NA NA 19q13.41 NA Name=CEBPB,Pol2-4H8 Name=23 NA rs2304156 0.32 0.32 0.048 0.326677 0.334 0.248 0.4035 0.4077 0.2362 0.32 0.24 0.38 0.37 0.4148 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025696 NA NA 0.009583 0.008061 NA 0.377 NA 5.241617 1136 20 43929659 43929659 G A intronic MATN4 NA NA NA intronic ENSG00000124159 NA NA NA Score=272;Name=lod=17 NA 20q13.12 NA Name=ZNF263,CTCF NA NA rs2076023 0.25 0.25 0.246 0.218051 0.2783 0.1121 0.3415 0.261 0.1196 0.28 0.13 0.31 0.28 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 1.418901 1.418901 NA 0.249419 0.255334 NA 0.312 NA 5.241081 1136 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 1136 2 180308028 180308028 C T exonic ZNF385B NA synonymous SNV ZNF385B:NM_001113397:exon8:c.G1137A:p.G379G,ZNF385B:NM_001113398:exon8:c.G1059A:p.G353G,ZNF385B:NM_152520:exon10:c.G1365A:p.G455G exonic ENSG00000144331 NA synonymous SNV ENSG00000144331:ENST00000336917:exon8:c.G1059A:p.G353G,ENSG00000144331:ENST00000409343:exon8:c.G1137A:p.G379G,ENSG00000144331:ENST00000409692:exon9:c.G1059A:p.G353G,ENSG00000144331:ENST00000410066:exon10:c.G1365A:p.G455G NA NA 2q31.2 NA NA NA NA rs2367796 0.15 0.15 0.154 0.167732 0.1412 0.1518 0.1023 0.261 0.1319 0.13 0.13 0.11 0.25 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 -2.095167 NA NA 0.144651 0.217658 NA 0.21 NA 5.2401156 1136 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 1136 6 26505403 26505403 C A exonic BTN1A1 NA synonymous SNV BTN1A1:NM_001732:exon3:c.C678A:p.G226G exonic ENSG00000124557 NA synonymous SNV ENSG00000124557:ENST00000244513:exon3:c.C678A:p.G226G Score=333;Name=lod=30 NA 6p22.2 NA NA NA NA rs3736782 0.55 0.55 0.53 0.567692 0.4423 0.745 0.5879 0.5121 0.5746 0.46 0.72 0.57 0.47 0.5143 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.797529 NA NA 0.470349 0.519292 NA 0.377 NA 5.2397176 1136 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 1136 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=YY1_(C-20),IRF1,TBP,Pol2(b),YY1,TAF7_(SQ-8),p300,Pol2,CHD2_(N-1250),NF-YA,ELF1_(SC-631),HEY1,NFKB,TAF1,Pol2-4H8 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 1136 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 1136 15 42026764 42026764 C T exonic MGA NA synonymous SNV MGA:NM_001080541:exon12:c.C3888T:p.D1296D,MGA:NM_001164273:exon12:c.C3888T:p.D1296D exonic ENSG00000174197 NA synonymous SNV ENSG00000174197:ENST00000566586:exon11:c.C3888T:p.D1296D,ENSG00000174197:ENST00000570161:exon11:c.C3888T:p.D1296D,ENSG00000174197:ENST00000219905:exon12:c.C3888T:p.D1296D,ENSG00000174197:ENST00000389936:exon12:c.C3888T:p.D1296D,ENSG00000174197:ENST00000545763:exon12:c.C3888T:p.D1296D Score=452;Name=lod=92 NA 15q15.1 Score=868;Name=V$ATF6_01 NA NA NA rs1918314 0.77 0.77 0.761 0.748203 0.8161 0.8919 0.8242 0.5386 0.7597 0.82 0.88 0.81 0.55 0.8016 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 0.541946 NA NA 0.810265 0.568332 NA 0.63 NA 5.2387016 1136 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 1136 2 75874390 75874390 G C intronic MRPL19 NA NA NA intronic ENSG00000115364 NA NA NA NA NA 2p12 NA Name=c-Myc,Sin3Ak-20,ZBTB7A_(SC-34508),HA-E2F1,Pol2,E2F6_(H-50),E2F6,TCF12,Pol2-4H8,GABP,EBF1_(C-8),NFKB,ZEB1_(SC-25388),TAF1,ELF1_(SC-631) Name=148 NA rs2286239 0.18 0.18 0.133 0.1877 0.2614 0.1637 0.2392 0.0386 0.3016 0.25 0.17 0.24 0.05 0.2545 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.088955 NA NA 0.246736 0.06197 NA 0.261 NA 5.237364 1136 1 200877850 200877850 T G 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 rs41299637 0.16 0.16 0.158 0.136781 0.2734 0.002 0.1585 0.1362 0.1207 0.26 0.0035 0.19 0.15 0.2115 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.842699 NA NA 0.277791 0.160009 NA 0.254 NA 5.237309 1136 X 71349774 71349774 T C exonic RGAG4 NA synonymous SNV RGAG4:NM_001024455:exon1:c.A1617G:p.G539G exonic ENSG00000242732 NA synonymous SNV ENSG00000242732:ENST00000479991:exon1:c.A1617G:p.G539G,ENSG00000242732:ENST00000545866:exon1:c.A1617G:p.G539G Score=272;Name=lod=17 NA Xq13.1 NA NA NA NA rs12393722 0.44 0.44 0.41494 NA NA NA NA NA NA 0.79 0.12 0.59 0.15 0.6372 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 -0.147146 NA NA 0.792485 0.24488 NA 0.297 NA 5.2369816 1136 9 101061639 101061639 C G intronic GABBR2 NA NA NA intronic ENSG00000136928 NA NA NA Score=589;Name=lod=330 NA 9q22.33 NA NA NA Score=66;Name=2449738_0_-_66 rs970388 0.23 0.23 0.207 0.234625 0.2555 0.3413 0.2896 0.0378 0.3303 0.25 0.32 0.3 0.03 0.255 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.52853 1.52853 NA 0.25314 0.071039 NA 0.225 NA 5.23636 1136 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 1136 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 1137 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=TAL1_(SC-12984),Pol2-4H8 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 1137 20 17594801 17594801 G A UTR3 RRBP1 NM_001042576:c.*26C>T,NM_004587:c.*26C>T NA NA UTR3 ENSG00000125844 ENST00000246043:c.*26C>T,ENST00000377807:c.*26C>T,ENST00000360807:c.*26C>T,ENST00000377813:c.*26C>T,ENST00000455029:c.*26C>T NA NA Score=517;Name=lod=169 NA 20p12.1 NA NA NA NA rs8803 0.03 0.03 0.025 0.0315495 0.0358 0.0466 0.0202 0.0045 0.0562 0.03 0.05 0.02 0.01 0.0316 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 2.418548 2.418548 NA 0.031279 0.005447 NA 0.058 NA 5.2346544 1137 9 117170310 117170310 C T intronic DFNB31 NA NA NA intronic ENSG00000095397 NA NA NA NA NA 9q32 NA Name=PU.1 NA NA rs2274160 0.18 0.18 0.178 0.164337 0.2704 0.0694 0.134 0.1891 0.1411 0.29 0.05 0.16 0.18 0.2499 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014115 NA NA 0.245233 0.205629 NA 0.188 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038878.1;CLNDSDB=.;CLNDSDBID=. 5.234467 1137 10 54528266 54528266 G C exonic MBL2 NA synonymous SNV MBL2:NM_000242:exon4:c.C378G:p.L126L exonic ENSG00000165471 NA synonymous SNV ENSG00000165471:ENST00000373968:exon4:c.C378G:p.L126L NA NA 10q21.1 NA Name=HNF4A_(H-171),CEBPB,FOXA2_(SC-6554),RXRA,HNF4G_(SC-6558),FOXA1_(SC-101058),FOXA1_(C-20),p300 Name=4 NA rs930507 0.77 0.77 0.752 0.738818 0.8032 0.7302 0.8559 0.6399 0.7321 0.81 0.76 0.85 0.68 0.8041 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 1.396372 1.396372 NA 0.825 0.664396 ID=COSM1348195;OCCURENCE=1(large_intestine) 0.638 NA 5.2343666 1137 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 1137 16 66861966 66861966 G A UTR5 NAE1 NM_001018159:c.-49C>T NA NA exonic ENSG00000159593 NA nonsynonymous SNV ENSG00000159593:ENST00000569348:exon2:c.C68T:p.T23I Score=265;Name=lod=16 NA 16q22.1 NA NA NA NA rs152164 0.37 0.37 0.343 0.347843 0.3598 0.6151 0.402 0.0703 0.3967 0.35 0.63 0.41 0.08 0.3818 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.048382 NA NA 0.358184 0.122475 NA 0.246 NA 5.2335494 1137 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 1137 17 79612161 79612161 C T exonic TSPAN10 NA unknown UNKNOWN exonic ENSG00000182612 NA synonymous SNV ENSG00000182612:ENST00000328585:exon2:c.C180T:p.T60T NA NA 17q25.3 NA NA Name=7 NA rs6565616 0.53 0.53 0.48 0.577276 0.2853 0.7798 0.5994 0.6157 0.6012 0.3 0.79 0.53 0.58 0.471 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 -0.33228 NA NA 0.344042 0.56005 ID=COSM1387326;OCCURENCE=1(large_intestine) 0.5 NA 5.2329913 1137 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 1137 8 144620871 144620871 A G exonic ZC3H3 NA synonymous SNV ZC3H3:NM_015117:exon2:c.T666C:p.S222S exonic ENSG00000014164 NA synonymous SNV ENSG00000014164:ENST00000262577:exon2:c.T666C:p.S222S NA NA 8q24.3 NA NA NA NA rs3750209 0.17 0.17 0.172 0.188299 0.1501 0.1329 0.183 0.2595 0.1922 0.16 0.15 0.18 0.22 0.1537 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.956964 NA NA 0.130617 0.198272 ID=COSM454140;OCCURENCE=2(breast) 0.159 NA 5.2322496 1137 5 139936760 139936760 G T exonic SRA1 NA stopgain SRA1:NM_001253764:exon1:c.C278A:p.S93X exonic ENSG00000213523 NA synonymous SNV ENSG00000213523:ENST00000336283:exon2:c.C159A:p.V53V NA NA 5q31.3 NA Name=Ini1,Pol2 NA NA rs250426 0.66 0.66 0.648 0.631989 0.7167 0.8254 0.7248 0.292 0.7393 0.72 0.84 0.71 0.31 0.688 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 1.663746 1.663746 NA 0.69709 0.367273 NA 0.688 NA 5.2315433 1137 10 88705306 88705306 T G intronic MMRN2 NA NA NA intronic ENSG00000173269 NA NA NA NA NA 10q23.2 NA Name=CTCF Name=72 NA rs3750822 0.15 0.15 0.123 0.158147 0.2366 0.0615 0.1945 0.0605 0.2832 0.25 0.06 0.22 0.06 0.2927 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.335878 1.335878 NA 0.239874 0.086403 NA 0.246 NA 5.230826 1137 9 86900926 86900926 G A exonic SLC28A3 NA synonymous SNV SLC28A3:NM_001199633:exon13:c.C1381T:p.L461L,SLC28A3:NM_022127:exon14:c.C1381T:p.L461L exonic ENSG00000197506 NA synonymous SNV ENSG00000197506:ENST00000376238:exon13:c.C1381T:p.L461L,ENSG00000197506:ENST00000537648:exon14:c.C1174T:p.L392L NA NA 9q21.33 NA NA NA NA rs7853758 0.18 0.18 0.188 0.202676 0.1372 0.1558 0.2334 0.3396 0.1115 0.13 0.13 0.17 0.33 0.1536 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.004524 NA NA 0.145116 0.291421 NA 0.268 NA 5.2307506 1137 16 5050897 5050897 G C exonic SEC14L5 NA synonymous SNV SEC14L5:NM_014692:exon10:c.G1101C:p.G367G exonic ENSG00000103184 NA synonymous SNV ENSG00000103184:ENST00000251170:exon10:c.G1101C:p.G367G Score=509;Name=lod=156 NA 16p13.3 NA NA NA NA rs2286966 0.41 0.41 0.394 0.397364 0.4742 0.2609 0.4885 0.413 0.3732 0.46 0.29 0.48 0.41 0.4873 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491464 NA NA 0.474492 0.406042 NA 0.42 NA 5.2306746 1137 20 55012318 55012318 G A exonic CASS4 NA synonymous SNV CASS4:NM_001164114:exon2:c.G135A:p.V45V,CASS4:NM_001164115:exon2:c.G135A:p.V45V,CASS4:NM_020356:exon2:c.G135A:p.V45V,CASS4:NM_001164116:exon3:c.G135A:p.V45V exonic ENSG00000087589 NA synonymous SNV ENSG00000087589:ENST00000371336:exon2:c.G135A:p.V45V,ENSG00000087589:ENST00000434344:exon2:c.G135A:p.V45V,ENSG00000087589:ENST00000360314:exon3:c.G135A:p.V45V NA NA 20q13.31 NA NA NA NA rs911159 0.14 0.14 0.13 0.135383 0.1501 0.1508 0.1628 0.0817 0.1575 0.14 0.18 0.16 0.1 0.1429 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.946807 NA NA 0.144186 0.102133 NA 0.159 NA 5.2294806 1137 22 18022052 18022052 G C exonic CECR2 NA unknown UNKNOWN exonic ENSG00000099954 NA synonymous SNV ENSG00000099954:ENST00000262608:exon15:c.G2157C:p.G719G,ENSG00000099954:ENST00000400573:exon16:c.G2154C:p.G718G,ENSG00000099954:ENST00000400585:exon16:c.G1731C:p.G577G NA NA 22q11.21 NA NA NA NA rs41277562 0.02 0.02 0.019 0.0117812 0.0398 NA 0.0187 0.0008 0.0051 0.05 NA 0.02 NA 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 -1.857422 NA NA 0.03649 0.006137 NA 0.007 NA 5.2288433 1137 7 138596064 138596064 G A exonic KIAA1549 NA synonymous SNV KIAA1549:NM_001164665:exon4:c.C2973T:p.Y991Y,KIAA1549:NM_020910:exon4:c.C2973T:p.Y991Y exonic ENSG00000122778 NA synonymous SNV ENSG00000122778:ENST00000242365:exon3:c.C2823T:p.Y941Y,ENSG00000122778:ENST00000422774:exon4:c.C2973T:p.Y991Y,ENSG00000122778:ENST00000440172:exon4:c.C2973T:p.Y991Y Score=383;Name=lod=48 NA 7q34 NA NA NA NA rs6969074 0.45 0.45 0.47 0.488419 0.4712 0.1885 0.3055 0.8714 0.4274 0.46 0.19 0.32 0.83 0.5177 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 -0.0583 NA NA 0.448935 0.801475 NA 0.42 NA 5.2288316 1137 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 1137 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 1137 17 3181555 3181555 A G exonic OR3A2 NA synonymous SNV OR3A2:NM_002551:exon1:c.T675C:p.T225T exonic ENSG00000221882 NA synonymous SNV ENSG00000221882:ENST00000408891:exon1:c.T675C:p.T225T NA NA 17p13.3 NA NA NA NA rs2013809 0.21 0.21 0.21 0.257987 0.1431 0.0744 0.2378 0.4758 0.2853 0.15 0.04 0.2 0.51 0.1753 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.479093 NA NA 0.120581 0.405583 NA 0.312 NA 5.2276856 1137 7 76871113 76871113 A G exonic CCDC146 NA synonymous SNV CCDC146:NM_020879:exon4:c.A345G:p.A115A exonic ENSG00000135205 NA synonymous SNV ENSG00000135205:ENST00000285871:exon4:c.A345G:p.A115A,ENSG00000135205:ENST00000415750:exon4:c.A345G:p.A115A NA NA 7q11.23 NA NA NA NA rs17230060 0.09 0.09 0.081 0.0704872 0.163 0.0516 0.072 0.0068 0.0798 0.15 0.06 0.08 0.01 0.1165 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.187726 NA NA 0.159651 0.031775 ID=COSM150318;OCCURENCE=1(stomach) 0.21 NA 5.2275156 1137 19 12910979 12910979 G T intronic PRDX2 NA NA NA ncRNA_intronic ENSG00000267062 NA NA NA NA NA 19p13.2 NA Name=GATA-1 NA NA rs10413408 0.06 0.06 0.054 0.0670927 0.0249 0.0119 0.0793 0.1732 0.0153 0.03 0.02 0.06 0.17 0.0485 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.716946 NA NA 0.032442 0.155697 NA 0.051 NA 5.2274913 1137 11 63883985 63883985 T C exonic FLRT1 NA synonymous SNV FLRT1:NM_013280:exon2:c.T246C:p.D82D exonic ENSG00000126500 NA synonymous SNV ENSG00000126500:ENST00000246841:exon2:c.T246C:p.D82D Score=537;Name=lod=203 NA 11q13.1 Score=773;Name=V$PAX2_01 NA NA NA rs614397 0.57 0.57 0.539 0.525759 0.8519 0.4167 0.6686 0.2035 0.637 0.86 0.41 0.69 0.22 0.7273 0.86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.587811 NA NA 0.860019 0.315993 NA 0.616 NA 5.2274476 1137 6 117730819 117730819 G A intronic ROS1 NA NA NA intronic ENSG00000047936 NA NA NA NA Name=QT interval (interaction) 6q22.1 NA NA Name=2 NA rs2273601 0.3 0.3 0.301 0.360224 0.2565 0.2738 0.1888 0.5076 0.4785 0.25 0.28 0.19 0.46 0.2795 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.236306 NA NA 0.23686 0.47231 NA 0.377 NA 5.22714 1137 1 151105824 151105824 C G exonic SEMA6C NA synonymous SNV SEMA6C:NM_001178062:exon19:c.G1905C:p.P635P,SEMA6C:NM_030913:exon19:c.G1929C:p.P643P,SEMA6C:NM_001178061:exon20:c.G2025C:p.P675P exonic ENSG00000143434 NA synonymous SNV ENSG00000143434:ENST00000341697:exon19:c.G1929C:p.P643P,ENSG00000143434:ENST00000368912:exon19:c.G1905C:p.P635P,ENSG00000143434:ENST00000368914:exon19:c.G1929C:p.P643P,ENSG00000143434:ENST00000368913:exon20:c.G2025C:p.P675P Score=541;Name=lod=211 NA 1q21.3 Score=858;Name=V$GR_Q6 NA NA NA rs4971006 0.77 0.77 0.765 0.758187 0.8121 0.9028 0.7939 0.5371 0.8272 0.81 0.91 0.8 0.52 0.8219 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 1.08465 NA NA 0.806659 0.592779 NA 0.696 NA 5.2260076 1137 1 207679307 207679307 A G exonic CR1 NA synonymous SNV CR1:NM_000573:exon2:c.A180G:p.E60E,CR1:NM_000651:exon2:c.A180G:p.E60E exonic ENSG00000203710 NA synonymous SNV ENSG00000203710:ENST00000367049:exon2:c.A180G:p.E60E,ENSG00000203710:ENST00000367051:exon2:c.A180G:p.E60E,ENSG00000203710:ENST00000367052:exon2:c.A180G:p.E60E,ENSG00000203710:ENST00000367053:exon2:c.A180G:p.E60E,ENSG00000203710:ENST00000400960:exon2:c.A180G:p.E60E,ENSG00000203710:ENST00000534202:exon2:c.A180G:p.E60E NA NA 1q32.2 NA NA NA NA rs4844600 0.8 0.8 0.78 0.850439 0.8111 0.6488 0.9078 0.9523 0.9202 0.79 0.62 0.91 0.94 0.8217 0.94 . . . . . . . . 1.000 P . . . . -1.025 T 0.000 T . -0.039 3.815 -0.603 -0.514 -1.176 7.912 -0.038989 NA NA 0.808539 0.938606 NA 0.739 NA 5.2253276 1138 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 1138 20 50255849 50255849 A C intronic ATP9A NA NA NA intronic ENSG00000054793 NA NA NA NA NA 20q13.2 NA Name=c-Myc,SMC3_(ab9263),CTCF,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 1138 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 1138 3 196674259 196674259 G A exonic PIGZ NA synonymous SNV PIGZ:NM_025163:exon3:c.C1509T:p.T503T exonic ENSG00000119227 NA synonymous SNV ENSG00000119227:ENST00000412723:exon3:c.C1509T:p.T503T NA NA 3q29 NA NA NA NA rs61179255 0.08 0.08 0.07 0.105431 0.1491 0.0694 0.0879 0.0151 0.2321 0.14 0.05 0.1 0.03 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 -0.870597 NA NA 0.155465 0.041534 NA 0.08 NA 5.2247016 1138 11 64990041 64990041 G C exonic SLC22A20 NA nonsynonymous SNV SLC22A20:NM_001004326:exon4:c.G737C:p.G246A ncRNA_exonic ENSG00000197847 NA NA NA NA NA 11q13.1 Score=855;Name=V$MZF1_02 NA Name=3 NA rs514076 0.63 0.63 0.609 0.572085 0.7783 0.6776 0.719 0.1876 0.6667 0.78 0.69 0.73 0.24 0.7124 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.002855 2.002855 0 0.784696 0.307973 NA 0.558 NA 5.224604 1138 3 179137273 179137273 A G exonic GNB4 NA synonymous SNV GNB4:NM_021629:exon4:c.T117C:p.S39S exonic ENSG00000114450 NA synonymous SNV ENSG00000114450:ENST00000232564:exon4:c.T117C:p.S39S,ENSG00000114450:ENST00000468623:exon4:c.T117C:p.S39S,ENSG00000114450:ENST00000497513:exon5:c.T117C:p.S39S NA NA 3q26.33 Score=883;Name=V$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 1138 19 498524 498524 A G exonic MADCAM1 NA synonymous SNV MADCAM1:NM_130760:exon3:c.A366G:p.P122P,MADCAM1:NM_130762:exon3:c.A366G:p.P122P exonic ENSG00000099866 NA synonymous SNV ENSG00000099866:ENST00000382683:exon2:c.A81G:p.P27P,ENSG00000099866:ENST00000215637:exon3:c.A366G:p.P122P,ENSG00000099866:ENST00000346144:exon3:c.A366G:p.P122P NA NA 19p13.3 NA NA Name=6 NA rs2302217 0.62 0.62 0.61 0.633586 0.4563 0.753 0.438 0.826 0.5716 0.47 0.76 0.43 0.82 0.5284 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 -0.673437 NA NA 0.458479 0.768619 ID=COSM439965;OCCURENCE=1(breast) 0.623 NA 5.2234876 1138 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 1138 7 102108532 102108532 G A exonic LRWD1 NA synonymous SNV LRWD1:NM_152892:exon6:c.G702A:p.R234R exonic ENSG00000161036 NA synonymous SNV ENSG00000161036:ENST00000292616:exon6:c.G702A:p.R234R NA NA 7q22.1 NA NA NA NA rs73189880 0.11 0.11 0.081 0.121206 0.1461 0.1399 0.1081 0.0068 0.2403 0.14 0.12 0.13 0.02 0.1559 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.729952 1.729952 NA 0.14181 0.030668 ID=COSM452073;OCCURENCE=1(breast) 0.13 NA 5.2228566 1138 20 590456 590456 A G exonic TCF15 NA synonymous SNV TCF15:NM_004609:exon1:c.T426C:p.R142R exonic ENSG00000125878 NA synonymous SNV ENSG00000125878:ENST00000246080:exon1:c.T426C:p.R142R Score=784;Name=lod=2045 NA 20p13 Score=737;Name=V$NRSF_01 NA NA NA rs282164 0.84 0.84 0.784 0.862021 0.8072 0.998 0.9035 0.7413 0.9121 0.8 1 0.88 0.71 0.837 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27853 NA NA 0.799688 0.756598 NA 0.217 NA 5.2227786 1138 22 36537725 36537725 G A exonic APOL3 NA synonymous SNV APOL3:NM_145640:exon3:c.C732T:p.Y244Y,APOL3:NM_145642:exon4:c.C132T:p.Y44Y,APOL3:NM_145641:exon5:c.C132T:p.Y44Y exonic ENSG00000128284 NA synonymous SNV ENSG00000128284:ENST00000349314:exon3:c.C732T:p.Y244Y,ENSG00000128284:ENST00000361710:exon4:c.C132T:p.Y44Y,ENSG00000128284:ENST00000397293:exon4:c.C519T:p.Y173Y,ENSG00000128284:ENST00000424878:exon4:c.C132T:p.Y44Y,ENSG00000128284:ENST00000397287:exon5:c.C132T:p.Y44Y NA NA 22q12.3 NA NA NA NA rs61731692 0.08 0.08 0.074 0.0942492 0.16 0.0198 0.0735 0.0983 0.1125 0.15 0.01 0.08 0.08 0.1301 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312785 NA NA 0.153953 0.087381 NA 0.116 NA 5.2226136 1138 19 49079246 49079246 C T exonic SULT2B1 NA synonymous SNV SULT2B1:NM_004605:exon1:c.C75T:p.P25P,SULT2B1:NM_177973:exon2:c.C120T:p.P40P exonic ENSG00000088002 NA synonymous SNV ENSG00000088002:ENST00000323090:exon1:c.C75T:p.P25P,ENSG00000088002:ENST00000201586:exon2:c.C120T:p.P40P NA NA 19q13.33 NA NA NA NA rs2544794 0.12 0.12 0.127 0.130192 0.1481 0.003 0.1023 0.23 0.1278 0.14 0.0017 0.12 0.21 0.1338 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.929772 NA NA 0.162326 0.229233 NA 0.188 NA 5.2224406 1138 2 69573029 69573029 T C intronic GFPT1 NA NA NA intronic ENSG00000198380 NA NA NA NA NA 2p13.3 Score=896;Name=V$OCT1_03 NA Name=7 NA rs6722492 0.61 0.61 0.615 0.647165 0.5924 0.4812 0.5202 0.8926 0.6329 0.59 0.46 0.53 0.86 0.5961 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 2.464774 2.464774 NA 0.589302 0.843551 NA 0.696 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117140.1;CLNDSDB=.;CLNDSDBID=. 5.222198 1138 12 53070121 53070121 T G exonic KRT1 NA synonymous SNV KRT1:NM_006121:exon7:c.A1413C:p.T471T exonic ENSG00000167768 NA synonymous SNV ENSG00000167768:ENST00000252244:exon7:c.A1413C:p.T471T Score=540;Name=lod=209 NA 12q13.13 NA NA NA NA rs698170 0.8 0.8 0.793 0.801118 0.8221 0.8284 0.7219 0.7897 0.8231 0.83 0.83 0.73 0.78 0.8073 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 -0.158741 NA NA 0.815698 0.789605 NA 0.855 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000057058.1;CLNDSDB=.;CLNDSDBID=. 5.2215686 1138 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 1138 12 49176872 49176872 G T exonic ADCY6 NA synonymous SNV ADCY6:NM_015270:exon1:c.C346A:p.R116R,ADCY6:NM_020983:exon2:c.C346A:p.R116R exonic ENSG00000174233 NA synonymous SNV ENSG00000174233:ENST00000307885:exon1:c.C346A:p.R116R,ENSG00000174233:ENST00000357869:exon1:c.C346A:p.R116R,ENSG00000174233:ENST00000550422:exon2:c.C346A:p.R116R NA NA 12q13.12 NA NA NA NA rs3730308 0.13 0.13 0.138 0.150359 0.1461 0.001 0.1066 0.2557 0.1973 0.15 0.0017 0.12 0.28 0.1447 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.886961 NA NA 0.154767 0.231049 NA 0.261 NA 5.2210996 1138 1 171511039 171511039 C G exonic PRRC2C NA synonymous SNV PRRC2C:NM_015172:exon16:c.C4428G:p.S1476S exonic ENSG00000117523 NA synonymous SNV ENSG00000117523:ENST00000338920:exon16:c.C4428G:p.S1476S,ENSG00000117523:ENST00000367742:exon16:c.C4434G:p.S1478S,ENSG00000117523:ENST00000392078:exon16:c.C4434G:p.S1478S,ENSG00000117523:ENST00000426496:exon16:c.C4428G:p.S1476S Score=677;Name=lod=751 NA 1q24.3 NA NA NA NA rs1687064 0.82 0.82 0.826 0.810304 0.8161 0.8958 0.7349 0.7474 0.8548 0.83 0.9 0.76 0.75 0.8193 0.9 . . . . . . . . 0.000 P . . . . -1.026 T 0.032 T . -0.199 3.033 0.303 -0.150 -0.705 4.484 -0.199301 NA NA 0.810465 0.772129 NA 0.833 NA 5.2208016 1138 X 12937513 12937513 C T exonic TLR8 NA synonymous SNV TLR8:NM_138636:exon2:c.C354T:p.D118D exonic ENSG00000101916 NA synonymous SNV ENSG00000101916:ENST00000218032:exon2:c.C354T:p.D118D,ENSG00000101916:ENST00000311912:exon3:c.C408T:p.D136D NA NA Xp22.2 NA NA NA NA rs2159377 0.35 0.35 0.3593 NA NA NA NA NA NA 0.17 0.74 0.3 0.22 0.2722 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.400921 NA NA 0.173751 0.139244 NA 0.188 NA 5.2207156 1138 15 42211486 42211486 A G exonic EHD4 NA synonymous SNV EHD4:NM_139265:exon4:c.T846C:p.F282F exonic ENSG00000103966 NA synonymous SNV ENSG00000103966:ENST00000220325:exon4:c.T846C:p.F282F Score=558;Name=lod=247 NA 15q15.1 NA NA NA NA rs1704396 0.41 0.41 0.421 0.453075 0.5 0.1052 0.3775 0.6944 0.4908 0.49 0.09 0.38 0.69 0.4561 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 1.487406 1.487406 NA 0.490114 0.644349 NA 0.529 NA 5.2204526 1138 5 79952390 79952390 T C intronic MSH3 NA NA NA intronic ENSG00000113318 NA NA NA NA NA 5q14.1 NA Name=Rad21,CTCF Name=25 NA rs1643639 0.21 0.21 0.189 0.230631 0.2525 0.0565 0.2061 0.2821 0.3354 0.25 0.05 0.25 0.28 0.2444 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476911 NA NA 0.282674 0.28325 NA 0.217 NA 5.220426 1138 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 1138 17 74141485 74141485 A T ncRNA_intronic RNF157-AS1 NA NA NA ncRNA_intronic ENSG00000267128 NA NA NA NA NA 17q25.1 NA NA Name=9 NA rs3744036 0.17 0.17 0.168 0.18131 0.1352 0.125 0.1844 0.2753 0.1575 0.14 0.12 0.17 0.26 0.1601 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.304276 1.304276 NA 0.151445 0.249773 NA 0.239 NA 5.2199216 1138 14 60591829 60591829 T C exonic PCNXL4 NA synonymous SNV PCNXL4:NM_022495:exon8:c.T2238C:p.F746F exonic ENSG00000126773 NA synonymous SNV ENSG00000126773:ENST00000535349:exon3:c.T561C:p.F187F,ENSG00000126773:ENST00000555740:exon3:c.T1248C:p.F416F,ENSG00000126773:ENST00000317623:exon8:c.T2238C:p.F746F,ENSG00000126773:ENST00000404681:exon8:c.T2940C:p.F980F,ENSG00000126773:ENST00000406949:exon8:c.T2238C:p.F746F,ENSG00000126773:ENST00000406854:exon9:c.T2940C:p.F980F NA NA 14q23.1 NA NA NA NA rs308990 0.26 0.26 0.272 0.326478 0.1153 0.2946 0.1369 0.5787 0.3701 0.1 0.27 0.15 0.55 0.204 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.103723 NA NA 0.127558 0.501135 NA 0.217 NA 5.2198086 1138 9 140777370 140777370 A C intronic CACNA1B NA NA NA ncRNA_exonic ENSG00000203987 NA NA NA NA NA 9q34.3 NA Name=NRSF,SUZ12 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 1138 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 1138 12 104645384 104645384 C G exonic TXNRD1 NA unknown UNKNOWN exonic ENSG00000198431 NA synonymous SNV ENSG00000198431:ENST00000429002:exon2:c.C171G:p.A57A NA NA 12q23.3 NA NA NA NA rs73180108 0.02 0.02 0.011 0.0119808 0.0467 NA 0.0086 0.0023 0.0041 0.05 NA 0.01 0.0041 0.0335 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 0.373071 NA NA 0.034856 0.004967 NA 0.043 NA 5.2182773 1138 1 17601165 17601165 C T exonic PADI3 NA synonymous SNV PADI3:NM_016233:exon11:c.C1191T:p.R397R exonic ENSG00000142619 NA synonymous SNV ENSG00000142619:ENST00000375460:exon11:c.C1191T:p.R397R NA NA 1p36.13 NA NA NA NA rs11585357 0.08 0.08 0.068 0.0607029 0.1759 0.001 0.0994 0.0121 0.0419 0.18 0.0017 0.1 0.01 0.1219 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.831797 NA NA 0.152209 0.029505 NA 0.145 NA 5.2166576 1138 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 1138 12 31359083 31359083 C T intergenic DDX11,FAM60A dist=101358;dist=74437 NA NA ncRNA_exonic ENSG00000177359 NA NA NA NA NA 12p11.21 NA Name=STAT3,GR,USF2 Name=101 NA rs61917095 0.24 0.24 0.26 0.243011 0.2813 0.12 0.1513 0.4115 0.1677 0.27 0.12 0.15 0.39 0.2537 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.140411 NA NA 0.248611 0.370428 NA 0.225 NA 5.216389 1138 3 13368892 13368892 G A exonic NUP210 NA synonymous SNV NUP210:NM_024923:exon32:c.C4332T:p.C1444C exonic ENSG00000132182 NA synonymous SNV ENSG00000132182:ENST00000254508:exon32:c.C4332T:p.C1444C NA NA 3p25.1 Score=850;Name=V$FOXJ2_02 NA NA NA rs2271509 0.42 0.42 0.417 0.396366 0.4891 0.3016 0.3775 0.4592 0.3272 0.48 0.34 0.42 0.43 0.4497 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.088807 NA NA 0.51186 0.470722 ID=COSM445628;OCCURENCE=2(breast) 0.558 NA 5.2160066 1138 19 1233597 1233597 G A exonic C19orf26 NA synonymous SNV C19orf26:NM_152769:exon8:c.C807T:p.P269P exonic ENSG00000099625 NA synonymous SNV ENSG00000099625:ENST00000215376:exon8:c.C789T:p.P263P,ENSG00000099625:ENST00000382477:exon8:c.C867T:p.P289P,ENSG00000099625:ENST00000590083:exon8:c.C807T:p.P269P NA NA 19p13.3 NA NA NA NA rs3746102 0.12 0.12 0.1 0.10603 0.163 0.1419 0.1369 0.0197 0.1053 0.17 0.15 0.14 0.02 0.1513 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636036 NA NA 0.136738 0.051115 NA 0.058 NA 5.2156286 1138 1 38155265 38155265 G C intronic C1orf109 NA NA NA intronic ENSG00000116922 NA NA NA NA NA 1p34.3 NA Name=ZNF263 Name=120 NA rs586252 0.21 0.21 0.229 0.214457 0.2694 0.0288 0.1614 0.3911 0.1483 0.26 0.02 0.19 0.38 0.2419 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169656 NA NA 0.27314 0.389696 NA 0.268 NA 5.21556 1138 12 133201947 133201947 T C intronic POLE NA NA NA intronic ENSG00000177084 NA NA NA NA NA 12q24.33 NA NA NA NA rs4883544 0.7 0.7 0.7 0.716254 0.5656 0.7798 0.7464 0.8404 0.6166 0.56 0.79 0.72 0.81 0.6446 0.81 0.44 T . . . . . . 1.000 P . . . . -1.009 T 0.000 T . -0.86 0.527 -1.65 -1.246 -4.580 5.790 -0.859505 NA 0.04 0.574409 0.807078 NA 0.739 NA 5.215391 1139 11 26694979 26694979 A G exonic SLC5A12 NA synonymous SNV SLC5A12:NM_178498:exon14:c.T1677C:p.C559C exonic ENSG00000148942 NA synonymous SNV ENSG00000148942:ENST00000396005:exon14:c.T1677C:p.C559C Score=532;Name=lod=193 NA 11p14.2 NA NA NA NA rs4369354 0.42 0.42 0.42 0.422923 0.4881 0.3502 0.3127 0.4448 0.4796 0.5 0.36 0.34 0.42 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 1.03183 NA NA 0.504383 0.435531 NA 0.457 NA 5.2149836 1139 19 55539061 55539061 A G exonic GP6 NA synonymous SNV GP6:NM_001083899:exon4:c.T495C:p.F165F,GP6:NM_001256017:exon4:c.T495C:p.F165F,GP6:NM_016363:exon4:c.T495C:p.F165F exonic ENSG00000088053 NA synonymous SNV ENSG00000088053:ENST00000468239:exon3:c.T264C:p.F88F,ENSG00000088053:ENST00000310373:exon4:c.T495C:p.F165F,ENSG00000088053:ENST00000333884:exon4:c.T495C:p.F165F,ENSG00000088053:ENST00000417454:exon4:c.T495C:p.F165F NA NA 19q13.42 NA Name=HEY1,ZBTB7A_(SC-34508) Name=10 NA rs892089 0.77 0.77 0.717 0.732428 0.839 0.8095 0.817 0.5651 0.7096 0.83 0.82 0.83 0.58 0.7929 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 0.620109 NA NA 0.819818 0.604376 NA 0.717 NA 5.2149486 1139 2 241451350 241451350 C T exonic ANKMY1 NA synonymous SNV ANKMY1:NM_016552:exon10:c.G1947A:p.T649T exonic ENSG00000144504 NA synonymous SNV ENSG00000144504:ENST00000373318:exon9:c.G1524A:p.T508T,ENSG00000144504:ENST00000373320:exon9:c.G1257A:p.T419T,ENSG00000144504:ENST00000403283:exon9:c.G1761A:p.T587T,ENSG00000144504:ENST00000272972:exon10:c.G1947A:p.T649T,ENSG00000144504:ENST00000406958:exon10:c.G1230A:p.T410T,ENSG00000144504:ENST00000391987:exon11:c.G1947A:p.T649T,ENSG00000144504:ENST00000401804:exon11:c.G2214A:p.T738T NA NA 2q37.3 NA NA NA NA rs10427348 0.08 0.08 0.075 0.0780751 0.1541 0.0069 0.098 0.0658 0.0757 0.14 0.01 0.09 0.07 0.1308 0.17 NA NA 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 0.16686 0.086019 NA 0.051 NA 5.2149066 1139 8 144946345 144946345 G A exonic EPPK1 NA synonymous SNV EPPK1:NM_031308:exon1:c.C1077T:p.A359A exonic ENSG00000227184 NA synonymous SNV ENSG00000227184:ENST00000525985:exon2:c.C1077T:p.A359A Score=389;Name=lod=51 NA 8q24.3 NA NA NA NA rs34753358 0.31 0.31 0.304 0.292532 0.4801 0.2381 0.4409 0.0242 0.4131 0.49 0.25 0.42 0.04 0.4877 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.835419 NA NA 0.485645 0.095471 ID=COSM454173;OCCURENCE=1(breast) 0.239 NA 5.2132216 1139 22 50988062 50988062 G T exonic KLHDC7B NA synonymous SNV KLHDC7B:NM_138433:exon1:c.G1467T:p.V489V exonic ENSG00000130487 NA synonymous SNV ENSG00000130487:ENST00000395676:exon1:c.G1467T:p.V489V Score=545;Name=lod=219 NA 22q13.33 NA NA NA NA rs140519 0.44 0.44 0.393 0.405152 0.495 0.5784 0.4366 0.1936 0.3978 0.48 0.58 0.44 0.2 0.4772 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365754 NA NA 0.48127 0.230822 NA 0.399 NA 5.2131966 1139 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 1139 22 23047290 23047290 G A intergenic GGTLC2,MIR650 dist=56922;dist=117980 NA NA exonic ENSG00000211661 NA nonsynonymous SNV ENSG00000211661:ENST00000390307:exon2:c.G328A:p.D110N NA NA 22q11.22 NA Name=PU.1 NA NA rs9623875 0.32 0.32 0.298 0.330671 0.2008 0.4087 0.2133 0.5295 0.1984 0.22 0.39 0.26 0.47 0.2342 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.281489 2.281489 0.02 0.186265 0.454389 NA 0.341 NA 5.2120684 1139 12 121176679 121176679 C T exonic ACADS NA synonymous SNV ACADS:NM_000017:exon8:c.C990T:p.R330R exonic ENSG00000122971 NA synonymous SNV ENSG00000122971:ENST00000242592:exon8:c.C990T:p.R330R,ENSG00000122971:ENST00000411593:exon8:c.C978T:p.R326R NA NA 12q24.31 Score=749;Name=V$MYOGNF1_01 NA NA NA rs3915 0.61 0.61 0.639 0.673123 0.4632 0.5655 0.6182 0.9682 0.6401 0.47 0.52 0.61 0.95 0.5453 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.439188 NA NA 0.446163 0.876532 NA 0.775 NA 5.2120036 1139 X 148797348 148797348 C T intronic MAGEA11 NA NA NA intronic ENSG00000185247 NA NA NA NA NA Xq28 NA Name=PU.1,EBF1_(C-8) Name=5 NA rs2233048 0.23 0.23 0.21542 NA NA NA NA NA NA 0.48 0.0023 0.26 0.09 0.3233 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722069 NA NA 0.46522 0.116819 NA 0.065 NA 5.21148 1139 11 5474838 5474838 G T exonic OR51I2 NA synonymous SNV OR51I2:NM_001004754:exon1:c.G120T:p.G40G exonic ENSG00000187918 NA synonymous SNV ENSG00000187918:ENST00000341449:exon1:c.G120T:p.G40G NA NA 11p15.4 Score=800;Name=V$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 1139 6 101166095 101166095 G A exonic ASCC3 NA synonymous SNV ASCC3:NM_006828:exon12:c.C1935T:p.L645L exonic ENSG00000112249 NA synonymous SNV ENSG00000112249:ENST00000369162:exon12:c.C1935T:p.L645L,ENSG00000112249:ENST00000522650:exon12:c.C1935T:p.L645L Score=562;Name=lod=256 NA 6q16.3 NA NA NA NA rs41288423 0.42 0.42 0.422 0.458666 0.4771 0.3135 0.3948 0.4735 0.6145 0.46 0.29 0.44 0.52 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 1.008875 NA NA 0.49686 0.45892 ID=COSM150147;OCCURENCE=1(breast),1(stomach) 0.428 NA 5.2110066 1139 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 1139 19 11708464 11708464 G C intronic ZNF627 NA NA NA intronic ENSG00000198551 NA NA NA NA NA 19p13.2 NA Name=Sin3Ak-20,Oct-2,TCF4,ZNF263,Pol2(b),POU2F2,TAF7_(SQ-8),CHD2_(N-1250),Pol2(phosphoS2),Pol2,ETS1,HEY1,ELF1_(SC-631),Pol2-4H8,GABP,TAF1 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 1139 X 153284483 153284483 G A exonic IRAK1 NA synonymous SNV IRAK1:NM_001025242:exon4:c.C483T:p.V161V,IRAK1:NM_001025243:exon4:c.C483T:p.V161V,IRAK1:NM_001569:exon4:c.C483T:p.V161V exonic ENSG00000184216 NA synonymous SNV ENSG00000184216:ENST00000369973:exon3:c.C561T:p.V187V,ENSG00000184216:ENST00000393682:exon3:c.C561T:p.V187V,ENSG00000184216:ENST00000429936:exon3:c.C561T:p.V187V,ENSG00000184216:ENST00000369974:exon4:c.C483T:p.V161V,ENSG00000184216:ENST00000369980:exon4:c.C483T:p.V161V,ENSG00000184216:ENST00000393687:exon4:c.C483T:p.V161V,ENSG00000184216:ENST00000444230:exon4:c.C471T:p.V157V NA NA Xq28 NA NA Name=3 NA rs1059701 0.48 0.48 0.47854 NA NA NA NA NA NA 0.81 0.18 0.56 0.25 0.6527 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 1.386734 1.386734 NA 0.803924 0.299243 ID=COSM150839;OCCURENCE=1(stomach) 0.384 NA 5.2100426 1139 15 64710827 64710827 T C exonic TRIP4 NA synonymous SNV TRIP4:NM_016213:exon9:c.T1258C:p.L420L exonic ENSG00000103671 NA synonymous SNV ENSG00000103671:ENST00000261884:exon9:c.T1258C:p.L420L NA NA 15q22.31 NA NA NA NA rs4776494 0.12 0.12 0.074 0.113618 0.1441 0.0327 0.4222 0.0121 0.0838 0.14 0.03 0.36 0.02 0.1533 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.964461 NA NA 0.159535 0.033818 NA 0.145 NA 5.2097316 1139 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 1139 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 1139 19 55672784 55672784 A G exonic DNAAF3 NA synonymous SNV DNAAF3:NM_001256714:exon7:c.T870C:p.A290A,DNAAF3:NM_001256715:exon7:c.T666C:p.A222A,DNAAF3:NM_001256716:exon7:c.T504C:p.A168A,DNAAF3:NM_178837:exon7:c.T807C:p.A269A exonic ENSG00000167646 NA synonymous SNV ENSG00000167646:ENST00000455045:exon5:c.T504C:p.A168A,ENSG00000167646:ENST00000391720:exon7:c.T807C:p.A269A,ENSG00000167646:ENST00000524407:exon7:c.T666C:p.A222A,ENSG00000167646:ENST00000527223:exon7:c.T870C:p.A290A NA NA 19q13.42 NA NA NA NA rs7260320 0.21 0.21 0.205 0.227037 0.1421 0.0913 0.1455 0.5219 0.1135 0.13 0.08 0.15 0.53 0.1726 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395653 NA NA 0.143103 0.427625 NA 0.159 NA 5.2088636 1139 X 69261818 69261818 A G intronic AWAT2 NA NA NA intronic ENSG00000147160 NA NA NA Score=399;Name=lod=56 NA Xq13.1 Score=799;Name=V$CMYB_01 NA NA NA rs2281933 0.41 0.41 NA NA NA NA NA NA NA 0.39 0.56 0.53 0.19 0.4108 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.071315 2.071315 NA 0.380499 0.171317 NA 0.181 NA 5.208701 1139 19 14582539 14582539 C T exonic PKN1 NA synonymous SNV PKN1:NM_002741:exon22:c.C2772T:p.L924L,PKN1:NM_213560:exon22:c.C2790T:p.L930L exonic ENSG00000123143 NA nonsynonymous SNV ENSG00000123143:ENST00000586237:exon4:c.C397T:p.H133Y NA NA 19p13.12 NA NA NA NA rs8598 0.13 0.13 0.117 0.113219 0.2465 0.0089 0.1571 0.0514 0.136 0.23 0.01 0.19 0.07 0.2806 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.421903 NA NA 0.264348 0.07838 NA 0.152 NA 5.208552 1139 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 1139 1 208391085 208391085 G A exonic PLXNA2 NA synonymous SNV PLXNA2:NM_025179:exon2:c.C183T:p.A61A exonic ENSG00000076356 NA synonymous SNV ENSG00000076356:ENST00000367033:exon2:c.C183T:p.A61A NA NA 1q32.2 NA NA NA NA rs12120681 0.09 0.09 0.064 0.0824681 0.159 0.0159 0.1412 0.0129 0.1247 0.15 0.02 0.15 0.02 0.1325 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729858 NA NA 0.166744 0.044712 NA 0.058 NA 5.2084226 1139 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 1139 1 11087524 11087524 G A exonic MASP2 NA synonymous SNV MASP2:NM_006610:exon11:c.C1479T:p.S493S exonic ENSG00000009724 NA synonymous SNV ENSG00000009724:ENST00000400897:exon11:c.C1479T:p.S493S NA NA 1p36.22 NA Name=Pol2(phosphoS2) Name=3 NA rs1782455 0.71 0.71 0.67 0.6875 0.84 0.8651 0.7983 0.2973 0.7965 0.84 0.87 0.79 0.25 0.7855 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 -1.495985 NA NA 0.833023 0.361099 NA 0.638 NA 5.2081436 1139 2 167144974 167144974 A T exonic SCN9A NA synonymous SNV SCN9A:NM_002977:exon10:c.T1287A:p.R429R exonic ENSG00000169432 NA synonymous SNV ENSG00000169432:ENST00000452182:exon7:c.T882A:p.R294R,ENSG00000169432:ENST00000454569:exon7:c.T882A:p.R294R,ENSG00000169432:ENST00000409435:exon9:c.T1287A:p.R429R,ENSG00000169432:ENST00000303354:exon10:c.T1290A:p.R430R,ENSG00000169432:ENST00000375387:exon10:c.T1290A:p.R430R,ENSG00000169432:ENST00000409672:exon10:c.T1287A:p.R429R NA NA 2q24.3 NA NA NA NA rs6747673 0.53 0.53 0.522 0.546725 0.4871 0.3839 0.5432 0.8041 0.4305 0.48 0.32 0.57 0.81 0.4944 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 1.006345 NA NA 0.477395 0.751359 NA 0.674 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118293.2;CLNDSDB=.;CLNDSDBID=. 5.2077716 1139 3 187088612 187088612 C T exonic RTP4 NA synonymous SNV RTP4:NM_022147:exon2:c.C192T:p.S64S exonic ENSG00000136514 NA synonymous SNV ENSG00000136514:ENST00000259030:exon2:c.C192T:p.S64S NA NA 3q27.3 NA NA NA NA rs33927333 0.09 0.09 0.081 0.0790735 0.168 0.0159 0.1066 0.0113 0.1247 0.17 0.02 0.13 0.01 0.1259 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.160499 NA NA 0.165 0.034271 NA 0.109 NA 5.2077666 1139 11 128842873 128842873 T C exonic ARHGAP32 NA synonymous SNV ARHGAP32:NM_014715:exon12:c.A2439G:p.E813E,ARHGAP32:NM_001142685:exon21:c.A3486G:p.E1162E exonic ENSG00000134909 NA synonymous SNV ENSG00000134909:ENST00000527272:exon11:c.A2439G:p.E813E,ENSG00000134909:ENST00000392657:exon12:c.A2439G:p.E813E,ENSG00000134909:ENST00000310343:exon21:c.A3486G:p.E1162E NA NA 11q24.3 NA NA NA NA rs581258 0.19 0.19 0.181 0.199481 0.1332 0.1746 0.2219 0.2625 0.1922 0.14 0.19 0.19 0.25 0.1784 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.825966 NA NA 0.147312 0.264652 NA 0.232 NA 5.2077546 1139 4 185615768 185615768 T G exonic CCDC111 NA synonymous SNV CCDC111:NM_152683:exon14:c.T1518G:p.G506G exonic ENSG00000164306 NA synonymous SNV ENSG00000164306:ENST00000515774:exon13:c.T1131G:p.G377G,ENSG00000164306:ENST00000314970:exon14:c.T1518G:p.G506G,ENSG00000164306:ENST00000503752:exon14:c.T1518G:p.G506G,ENSG00000164306:ENST00000512834:exon14:c.T1515G:p.G505G NA NA 4q35.1 NA NA NA NA rs3184982 0.14 0.14 0.146 0.146366 0.1481 0.001 0.1369 0.3011 0.092 0.14 NA 0.16 0.31 0.1473 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032492 NA NA 0.163605 0.276668 NA 0.217 NA 5.2076616 1139 11 85436699 85436699 A G exonic SYTL2 NA synonymous SNV SYTL2:NM_206927:exon1:c.T801C:p.P267P,SYTL2:NM_206928:exon1:c.T801C:p.P267P exonic ENSG00000137501 NA synonymous SNV ENSG00000137501:ENST00000354566:exon1:c.T801C:p.P267P,ENSG00000137501:ENST00000359152:exon1:c.T2373C:p.P791P,ENSG00000137501:ENST00000389959:exon1:c.T801C:p.P267P,ENSG00000137501:ENST00000525423:exon1:c.T801C:p.P267P NA NA 11q14.1 NA Name=CTCF Name=13 NA rs598346 0.9 0.9 0.908 0.902955 0.8012 0.999 0.8818 0.9357 0.8793 0.81 1 0.89 0.93 0.856 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.348314 NA NA 0.80228 0.887653 NA 0.681 NA 5.2071866 1139 7 128846328 128846328 G C exonic SMO NA synonymous SNV SMO:NM_005631:exon6:c.G1164C:p.G388G exonic ENSG00000128602 NA synonymous SNV ENSG00000128602:ENST00000462420:exon3:c.G246C:p.G82G,ENSG00000128602:ENST00000249373:exon6:c.G1164C:p.G388G Score=568;Name=lod=272 NA 7q32.1 NA NA Name=4 NA rs2228617 0.77 0.77 0.768 0.75619 0.8231 0.7718 0.7896 0.6687 0.7658 0.81 0.77 0.78 0.7 0.7975 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 0.892009 NA NA 0.83907 0.693146 NA 0.754 NA 5.2069966 1139 9 131588813 131588813 C G intronic C9orf114 NA NA NA intronic ENSG00000198917 NA NA NA NA NA 9q34.11 NA Name=CTCF,MafK_(ab50322) 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 1139 3 182790249 182790249 G A exonic MCCC1 NA synonymous SNV MCCC1:NM_020166:exon5:c.C396T:p.L132L exonic ENSG00000078070 NA nonsynonymous SNV ENSG00000078070:ENST00000490284:exon2:c.C116T:p.S39F,ENSG00000078070:ENST00000487634:exon3:c.C163T:p.L55F,ENSG00000078070:ENST00000495767:exon3:c.C163T:p.L55F Score=578;Name=lod=297 NA 3q27.1 NA NA NA NA rs7622479 0.92 0.92 0.894 0.915535 0.9334 1 0.9597 0.7784 0.9642 0.94 1 0.95 0.78 0.9297 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.813654 1.813654 NA 0.930798 0.796641 NA 0.884 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081994.1;CLNDSDB=.;CLNDSDBID=. 5.206102 1139 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 1139 5 61694379 61694379 T C exonic DIMT1 NA synonymous SNV DIMT1:NM_014473:exon6:c.A405G:p.S135S exonic ENSG00000086189 NA synonymous SNV ENSG00000086189:ENST00000199320:exon6:c.A405G:p.S135S,ENSG00000086189:ENST00000506390:exon6:c.A405G:p.S135S,ENSG00000086189:ENST00000514911:exon6:c.A405G:p.S135S Score=567;Name=lod=270 NA 5q12.1 NA NA NA NA rs247264 0.59 0.59 0.606 0.583866 0.4771 0.6806 0.5029 0.7179 0.4703 0.48 0.71 0.51 0.69 0.5119 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.005845 NA NA 0.471977 0.696777 NA 0.551 NA 5.2056896 1139 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 1139 21 43854985 43854985 A C exonic UBASH3A NA synonymous SNV UBASH3A:NM_001001895:exon9:c.A1200C:p.P400P,UBASH3A:NM_001243467:exon9:c.A1200C:p.P400P,UBASH3A:NM_018961:exon10:c.A1314C:p.P438P exonic ENSG00000160185 NA synonymous SNV ENSG00000160185:ENST00000291535:exon9:c.A1200C:p.P400P,ENSG00000160185:ENST00000398367:exon9:c.A1200C:p.P400P,ENSG00000160185:ENST00000319294:exon10:c.A1314C:p.P438P NA NA 21q22.3 NA NA NA NA rs17114925 0.26 0.26 0.272 0.2502 0.1262 0.2073 0.2017 0.4864 0.137 0.14 0.2 0.22 0.52 0.1888 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.959454 NA NA 0.146395 0.435315 NA 0.312 NA 5.2052716 1140 20 36979265 36979265 T C exonic LBP NA synonymous SNV LBP:NM_004139:exon3:c.T291C:p.P97P exonic ENSG00000129988 NA synonymous SNV ENSG00000129988:ENST00000217407:exon3:c.T291C:p.P97P NA NA 20q11.23 NA NA NA NA rs2232582 0.17 0.17 0.153 0.213259 0.1322 0.0734 0.1023 0.4221 0.2372 0.13 0.05 0.12 0.39 0.1711 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.230041 NA NA 0.158605 0.371085 NA 0.152 NA 5.2047616 1140 11 10647702 10647702 G A exonic MRVI1 NA synonymous SNV MRVI1:NM_001206881:exon7:c.C234T:p.L78L,MRVI1:NM_001098579:exon8:c.C1155T:p.L385L,MRVI1:NM_001100163:exon9:c.C906T:p.L302L,MRVI1:NM_001100167:exon9:c.C234T:p.L78L,MRVI1:NM_130385:exon9:c.C1179T:p.L393L exonic ENSG00000072952 NA synonymous SNV ENSG00000072952:ENST00000424001:exon7:c.C234T:p.L78L,ENSG00000072952:ENST00000534266:exon7:c.C234T:p.L78L,ENSG00000072952:ENST00000421747:exon8:c.C1152T:p.L384L,ENSG00000072952:ENST00000436272:exon8:c.C1098T:p.L366L,ENSG00000072952:ENST00000531107:exon8:c.C1155T:p.L385L,ENSG00000072952:ENST00000545852:exon8:c.C234T:p.L78L,ENSG00000072952:ENST00000547195:exon8:c.C906T:p.L302L,ENSG00000072952:ENST00000552103:exon8:c.C906T:p.L302L,ENSG00000072952:ENST00000423302:exon9:c.C1179T:p.L393L,ENSG00000072952:ENST00000527509:exon9:c.C906T:p.L302L,ENSG00000072952:ENST00000558540:exon9:c.C234T:p.L78L Score=452;Name=lod=92 NA 11p15.4 NA NA NA NA rs2241489 0.48 0.48 0.456 0.445288 0.4622 0.6915 0.4452 0.2557 0.4305 0.46 0.71 0.44 0.26 0.51 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196285 NA NA 0.489716 0.283217 ID=COSM1561152,COSM1561151;OCCURENCE=1(large_intestine) 0.399 NA 5.2047506 1140 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 1140 4 152212603 152212603 T G exonic PRSS48 NA stoploss PRSS48:NM_183375:exon5:c.T985G:p.X329E exonic ENSG00000189099 NA stoploss ENSG00000189099:ENST00000441586:exon3:c.T556G:p.X186E,ENSG00000189099:ENST00000455694:exon5:c.T985G:p.X329E NA NA 4q31.3 NA NA NA NA rs2407221 0.83 0.83 0.836 0.779553 0.9443 0.7411 0.866 0.705 0.6892 0.94 0.76 0.92 0.69 0.8848 0.97 . . . . . . . . 1.000 P . . . . -1.038 T 0.000 T . 0.955 8.896 0.679 -0.110 -0.341 0.854 0.955105 NA 0.97 0.966933 0.750132 NA 0.848 NA 5.203967 1140 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 1140 19 9001833 9001833 A G exonic MUC16 NA nonsynonymous SNV MUC16:NM_024690:exon53:c.T40415C:p.M13472T exonic ENSG00000181143 NA nonsynonymous SNV ENSG00000181143:ENST00000380951:exon5:c.T338C:p.M113T,ENSG00000181143:ENST00000397910:exon53:c.T40415C:p.M13472T NA NA 19p13.2 NA NA NA NA rs12976122 0.63 0.63 0.58 0.598243 0.7177 0.6062 0.7219 0.3812 0.6728 0.7 0.67 0.71 0.43 0.6787 0.73 1 T 0.076 B 0.067 B . . . . . . 2.05 T -0.996 T 0.000 T 0.085 -1.423 0.021 -0.090 -0.397 -0.127 3.938 -1.423077 NA 1 0.733373 0.469925 NA NA NA 5.2035604 1140 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 1140 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 1140 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 1140 5 115811220 115811220 T C intronic SEMA6A NA NA NA ncRNA_intronic ENSG00000248445 NA NA NA NA NA 5q23.1 NA Name=PU.1 Name=5 NA rs423834 0.45 0.45 0.465 0.481629 0.3449 0.5079 0.402 0.6679 0.3998 0.34 0.48 0.37 0.65 0.4656 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.440101 3.440101 NA 0.319724 0.597491 NA 0.507 NA 5.2031093 1140 7 134891961 134891961 G A intronic WDR91 NA NA NA intronic ENSG00000105875 NA NA NA NA NA 7q33 NA Name=TBP,Pol2 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 1140 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 1140 6 54735122 54735122 A G exonic FAM83B NA synonymous SNV FAM83B:NM_001010872:exon2:c.A78G:p.E26E exonic ENSG00000168143 NA synonymous SNV ENSG00000168143:ENST00000306858:exon2:c.A78G:p.E26E Score=552;Name=lod=233 NA 6p12.1 NA NA NA NA rs1472679 0.36 0.36 0.356 0.340056 0.5149 0.1488 0.317 0.3419 0.3712 0.51 0.17 0.35 0.34 0.4421 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.992098 NA NA 0.506977 0.397867 NA 0.478 NA 5.2026896 1140 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 1140 13 76055397 76055397 C T intronic TBC1D4 NA NA NA intronic ENSG00000136111 NA NA NA NA NA 13q22.2 NA NA Name=137 NA rs9573565 0.22 0.22 0.28 0.191893 0.2922 0.2103 0.2594 0.1165 0.1237 0.28 0.22 0.29 0.08 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 0.199467 NA NA 0.267197 0.140625 NA 0.08 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118594.2;CLNDSDB=.;CLNDSDBID=. 5.201903 1140 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 1140 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=SP1,RXRA 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 1140 5 169685163 169685163 C T exonic LCP2 NA synonymous SNV LCP2:NM_005565:exon16:c.G978A:p.Q326Q exonic ENSG00000043462 NA synonymous SNV ENSG00000043462:ENST00000520344:exon7:c.G279A:p.Q93Q,ENSG00000043462:ENST00000521416:exon8:c.G363A:p.Q121Q,ENSG00000043462:ENST00000046794:exon16:c.G978A:p.Q326Q NA NA 5q35.1 Score=823;Name=V$HNF4_01 NA NA NA rs315717 0.57 0.57 0.547 0.555312 0.4712 0.5675 0.5865 0.6762 0.4438 0.49 0.56 0.58 0.69 0.508 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.854988 NA NA 0.485752 0.644778 NA 0.594 NA 5.2017146 1140 12 113425154 113425154 C G exonic OAS2 NA nonsynonymous SNV OAS2:NM_001032731:exon2:c.C489G:p.S163R exonic ENSG00000111335 NA nonsynonymous SNV ENSG00000111335:ENST00000449768:exon2:c.C489G:p.S163R NA NA 12q24.13 NA NA NA NA rs1293767 0.83 0.83 0.813 0.853435 0.675 0.9137 0.804 0.9894 0.8262 0.69 0.91 0.79 0.99 0.7738 0.99 . . 0.0 B 0.0 B . . 1.000 P . . 2.8 T -1.055 T 0.000 T 0.065 -1.614 0.013 0.025 -0.255 0.257 3.352 -1.613994 NA 0.62 0.683123 0.941705 NA 0.79 NA 5.2014104 1140 5 52157374 52157374 T C exonic ITGA1 NA synonymous SNV ITGA1:NM_181501:exon3:c.T276C:p.C92C exonic ENSG00000213949 NA synonymous SNV ENSG00000213949:ENST00000282588:exon3:c.T276C:p.C92C NA NA 5q11.2 NA Name=STAT3 Name=17 NA rs2447867 0.75 0.75 0.757 0.76238 0.833 0.5992 0.7147 0.8396 0.7873 0.83 0.6 0.71 0.84 0.7928 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.40898 NA NA 0.839767 0.853609 NA 0.812 NA 5.2010996 1140 1 236719135 236719135 T C exonic HEATR1 NA synonymous SNV HEATR1:NM_018072:exon39:c.A5619G:p.E1873E exonic ENSG00000119285 NA synonymous SNV ENSG00000119285:ENST00000366581:exon38:c.A5376G:p.E1792E,ENSG00000119285:ENST00000366582:exon39:c.A5619G:p.E1873E Score=508;Name=lod=155 NA 1q43 Score=947;Name=V$STAT_01 NA NA NA rs1885532 0.87 0.87 0.874 0.873003 0.8022 0.9593 0.8833 0.8775 0.8436 0.8 0.97 0.87 0.86 0.8414 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 0.495623 NA NA 0.821977 0.87744 NA 0.848 NA 5.2010896 1140 2 97712540 97712540 A G intergenic FAM178B,FAHD2B dist=60239;dist=36783 NA NA ncRNA_exonic ENSG00000270748 NA NA NA Score=517;Name=lod=168 NA 2q11.2 NA NA Name=4 NA rs1257116 0.43 0.43 0.317 0.421526 0.7992 0.3026 0.4784 0.2943 0.2873 0.69 0.25 0.46 0.21 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 0.114973 NA NA NA NA NA 0.399 NA 5.2008 1140 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 1140 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 1140 12 109511256 109511256 T C exonic USP30 NA synonymous SNV USP30:NM_032663:exon7:c.T639C:p.P213P exonic ENSG00000135093 NA synonymous SNV ENSG00000135093:ENST00000257548:exon7:c.T639C:p.P213P,ENSG00000135093:ENST00000392784:exon10:c.T546C:p.P182P Score=374;Name=lod=44 NA 12q24.11 Score=878;Name=V$SREBP1_02 NA NA NA rs7967322 0.85 0.85 0.866 0.857029 0.829 0.9762 0.853 0.7587 0.8988 0.82 0.98 0.83 0.78 0.8377 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.996632 NA NA 0.801047 0.769178 NA 0.848 NA 5.1989196 1140 3 185146702 185146702 C T exonic MAP3K13 NA synonymous SNV MAP3K13:NM_004721:exon2:c.C333T:p.S111S,MAP3K13:NM_001242314:exon3:c.C333T:p.S111S exonic ENSG00000073803 NA synonymous SNV ENSG00000073803:ENST00000439882:exon1:c.C333T:p.S111S,ENSG00000073803:ENST00000265026:exon2:c.C333T:p.S111S,ENSG00000073803:ENST00000428617:exon2:c.C333T:p.S111S,ENSG00000073803:ENST00000433092:exon2:c.C333T:p.S111S,ENSG00000073803:ENST00000438053:exon2:c.C333T:p.S111S,ENSG00000073803:ENST00000424227:exon3:c.C333T:p.S111S,ENSG00000073803:ENST00000447637:exon3:c.C333T:p.S111S NA NA 3q27.2 NA NA NA NA rs3732577 0.22 0.22 0.121 0.147165 0.1581 0.2163 0.1354 0.0129 0.2546 0.25 0.25 0.17 0.16 0.158 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312306 NA NA 0.151744 0.039038 NA 0.152 NA 5.1988226 1140 20 47886684 47886684 G A exonic ZNFX1 NA synonymous SNV ZNFX1:NM_021035:exon3:c.C1665T:p.Y555Y exonic ENSG00000124201 NA synonymous SNV ENSG00000124201:ENST00000455070:exon1:c.C1077T:p.Y359Y,ENSG00000124201:ENST00000371744:exon3:c.C1665T:p.Y555Y,ENSG00000124201:ENST00000371752:exon3:c.C1665T:p.Y555Y,ENSG00000124201:ENST00000371754:exon3:c.C1665T:p.Y555Y,ENSG00000124201:ENST00000396105:exon3:c.C1665T:p.Y555Y Score=376;Name=lod=45 NA 20q13.13 Score=707;Name=V$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 1140 11 126176578 126176578 G A exonic DCPS NA synonymous SNV DCPS:NM_014026:exon2:c.G315A:p.Q105Q exonic ENSG00000110063 NA synonymous SNV ENSG00000110063:ENST00000263579:exon2:c.G315A:p.Q105Q Score=479;Name=lod=118 NA 11q24.2 Score=818;Name=V$ISRE_01 NA NA NA rs637462 0.91 0.91 0.912 0.932907 0.7972 1 0.9035 0.9917 0.9448 0.8 1 0.89 0.99 0.8591 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.508181 NA NA 0.811773 0.966152 NA 0.884 NA 5.1985936 1140 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 1140 12 101685852 101685852 G A exonic UTP20 NA synonymous SNV UTP20:NM_014503:exon10:c.G1143A:p.P381P exonic ENSG00000120800 NA synonymous SNV ENSG00000120800:ENST00000261637:exon10:c.G1143A:p.P381P NA NA 12q23.2 NA NA NA NA rs11110737 0.09 0.09 0.088 0.0880591 0.165 0.0278 0.111 0.0219 0.1442 0.17 0.03 0.13 0.02 0.1386 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.966461 NA NA 0.165349 0.042442 NA 0.145 NA 5.1977176 1140 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 1140 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 1140 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 1140 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 1141 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 1141 6 36713263 36713263 A G exonic CPNE5 NA synonymous SNV CPNE5:NM_020939:exon17:c.T1230C:p.C410C exonic ENSG00000124772 NA synonymous SNV ENSG00000124772:ENST00000393189:exon6:c.T354C:p.C118C,ENSG00000124772:ENST00000244751:exon17:c.T1230C:p.C410C Score=557;Name=lod=245 NA 6p21.2 Score=802;Name=V$TCF11MAFG_01 NA NA NA rs763046 0.82 0.82 0.865 0.801318 0.841 0.8373 0.6196 0.8729 0.7556 0.84 0.84 0.66 0.87 0.8071 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 1.307347 1.307347 NA 0.824378 0.872669 NA 0.783 NA 5.1941886 1141 11 320836 320836 C T UTR5 IFITM3 NM_021034:c.-23G>A NA NA ncRNA_UTR5 ENSG00000142089 NA NA NA NA NA 11p15.5 NA Name=Pol2,TAF1,Pol2-4H8,GABP,HEY1,STAT1,STAT3,TBP,CEBPB,STAT2 Name=123 NA rs34481144 0.22 0.22 0.2 0.178115 0.4622 0.006 0.2334 0.0431 0.2065 0.47 0.0035 0.26 0.05 0.3702 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189741 NA NA 0.473589 0.112395 NA 0.196 NA 5.194011 1141 1 171763522 171763522 C A intronic METTL13 NA NA NA intronic ENSG00000010165 NA NA NA NA NA 1q24.3 NA Name=STAT3,c-Fos,c-Jun Name=93 NA rs909958 0.35 0.35 0.331 0.313698 0.2445 0.5228 0.2911 0.3071 0.1943 0.24 0.52 0.3 0.33 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 -0.11102 NA NA 0.273605 0.334544 NA 0.377 NA 5.193195 1141 6 41658889 41658889 C T exonic TFEB NA synonymous SNV TFEB:NM_001167827:exon2:c.G105A:p.Q35Q,TFEB:NM_001271943:exon2:c.G63A:p.Q21Q,TFEB:NM_001271944:exon2:c.G63A:p.Q21Q,TFEB:NM_001271945:exon2:c.G63A:p.Q21Q,TFEB:NM_007162:exon3:c.G63A:p.Q21Q exonic ENSG00000112561 NA synonymous SNV ENSG00000112561:ENST00000343317:exon1:c.G321A:p.Q107Q,ENSG00000112561:ENST00000358871:exon2:c.G105A:p.Q35Q,ENSG00000112561:ENST00000373033:exon2:c.G63A:p.Q21Q,ENSG00000112561:ENST00000394283:exon2:c.G63A:p.Q21Q,ENSG00000112561:ENST00000403298:exon2:c.G63A:p.Q21Q,ENSG00000112561:ENST00000416140:exon2:c.G63A:p.Q21Q,ENSG00000112561:ENST00000419396:exon2:c.G63A:p.Q21Q,ENSG00000112561:ENST00000419574:exon2:c.G63A:p.Q21Q,ENSG00000112561:ENST00000425401:exon2:c.G63A:p.Q21Q,ENSG00000112561:ENST00000230323:exon3:c.G63A:p.Q21Q,ENSG00000112561:ENST00000420312:exon3:c.G63A:p.Q21Q,ENSG00000112561:ENST00000424495:exon3:c.G63A:p.Q21Q,ENSG00000112561:ENST00000445214:exon3:c.G63A:p.Q21Q Score=670;Name=lod=703 NA 6p21.1 NA NA NA NA rs1015149 0.46 0.46 0.441 0.461861 0.4722 0.4355 0.4496 0.5703 0.3405 0.47 0.38 0.44 0.57 0.5245 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.006154 NA NA 0.477162 0.56031 ID=COSM1568356;OCCURENCE=1(large_intestine) 0.167 NA 5.1928046 1141 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 1141 3 183432983 183432983 C T exonic YEATS2 NA synonymous SNV YEATS2:NM_018023:exon2:c.C33T:p.T11T exonic ENSG00000163872 NA synonymous SNV ENSG00000163872:ENST00000305135:exon2:c.C33T:p.T11T NA NA 3q27.1 NA NA NA NA rs3736535 0.21 0.21 0.21 0.189297 0.1382 0.2937 0.3256 0.1377 0.1074 0.13 0.33 0.26 0.16 0.1759 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.957067 NA NA 0.160175 0.154502 NA 0.225 NA 5.1923916 1141 7 130002317 130002317 T C exonic CPA5 NA synonymous SNV CPA5:NM_001127442:exon7:c.T573C:p.I191I,CPA5:NM_080385:exon8:c.T573C:p.I191I,CPA5:NM_001127441:exon9:c.T573C:p.I191I exonic ENSG00000158525 NA synonymous SNV ENSG00000158525:ENST00000393213:exon6:c.T573C:p.I191I,ENSG00000158525:ENST00000431780:exon7:c.T573C:p.I191I,ENSG00000158525:ENST00000461828:exon7:c.T573C:p.I191I,ENSG00000158525:ENST00000485477:exon7:c.T573C:p.I191I,ENSG00000158525:ENST00000466363:exon8:c.T573C:p.I191I,ENSG00000158525:ENST00000474905:exon8:c.T573C:p.I191I,ENSG00000158525:ENST00000355388:exon9:c.T573C:p.I191I Score=571;Name=lod=278 NA 7q32.2 Score=844;Name=V$TST1_01 NA NA NA rs1544705 0.77 0.77 0.721 0.754393 0.826 0.9752 0.8818 0.3684 0.8845 0.82 0.98 0.87 0.37 0.8177 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.622078 1.622078 NA 0.830698 0.462778 NA 0.645 NA 5.1922686 1141 13 114175004 114175004 C T exonic TMCO3 NA synonymous SNV TMCO3:NM_017905:exon8:c.C1299T:p.A433A exonic ENSG00000150403 NA synonymous SNV ENSG00000150403:ENST00000434316:exon8:c.C1299T:p.A433A NA NA 13q34 NA NA NA NA rs2260334 0.24 0.24 0.254 0.244209 0.1571 0.2728 0.1499 0.4213 0.1319 0.15 0.26 0.15 0.41 0.1704 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143678 NA NA 0.147209 0.353836 NA 0.217 NA 5.1919576 1141 7 158715219 158715219 A G exonic WDR60 NA synonymous SNV WDR60:NM_018051:exon16:c.A2073G:p.K691K exonic ENSG00000126870 NA synonymous SNV ENSG00000126870:ENST00000407559:exon16:c.A2073G:p.K691K Score=460;Name=lod=99 NA 7q36.3 Score=946;Name=V$HSF2_01 NA NA NA rs2730238 0.88 0.88 0.868 0.886182 0.8121 0.9464 0.9135 0.9115 0.8466 0.81 0.95 0.88 0.9 0.8419 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 1.178056 NA NA 0.82073 0.905696 NA 0.833 NA 5.1919366 1141 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 1141 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 1141 3 39431081 39431081 G A exonic SLC25A38 NA synonymous SNV SLC25A38:NM_017875:exon2:c.G165A:p.L55L exonic ENSG00000144659 NA synonymous SNV ENSG00000144659:ENST00000273158:exon2:c.G165A:p.L55L,ENSG00000144659:ENST00000431510:exon3:c.G153A:p.L51L Score=389;Name=lod=51 NA 3p22.1 NA NA NA NA rs2270770 0.45 0.45 0.416 0.416134 0.508 0.6141 0.5 0.0825 0.5092 0.52 0.62 0.52 0.09 0.482 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.30718 1.30718 NA 0.485 0.144803 NA 0.362 NA 5.1916666 1141 16 48248918 48248918 T C exonic ABCC11 NA synonymous SNV ABCC11:NM_033151:exon8:c.A1122G:p.K374K,ABCC11:NM_032583:exon9:c.A1122G:p.K374K,ABCC11:NM_145186:exon9:c.A1122G:p.K374K exonic ENSG00000121270 NA synonymous SNV ENSG00000121270:ENST00000394747:exon8:c.A1122G:p.K374K,ENSG00000121270:ENST00000353782:exon9:c.A1122G:p.K374K,ENSG00000121270:ENST00000356608:exon9:c.A1122G:p.K374K,ENSG00000121270:ENST00000394748:exon9:c.A1122G:p.K374K,ENSG00000121270:ENST00000537808:exon9:c.A1122G:p.K374K NA NA 16q12.1 NA NA NA NA rs8047091 0.17 0.17 0.163 0.169928 0.167 0.0446 0.1455 0.3623 0.0593 0.16 0.02 0.18 0.35 0.1529 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296659 NA NA 0.155465 0.318037 NA 0.217 NA 5.1913016 1141 19 39322414 39322414 G T UTR5 ECH1 NM_001398:c.-2C>A NA NA UTR5 ENSG00000104823 ENST00000221418:c.-2C>A,ENST00000594164:c.-2C>A,ENST00000595470:c.-2C>A,ENST00000597205:c.-2C>A NA NA NA NA 19q13.2 NA Name=eGFP-JunB,Pol2-4H8,Znf143_(16618-1-AP),HMGN3,TAF1,BCLAF1_(M33-P5B11),GATA-1,ETS1,HEY1,GRp20,CHD2_(N-1250),GATA-2,GATA2_(CG2-96),USF1_(SC-8983),USF-1,Pol2(phosphoS2),USF2,Pol2,E2F6_(H-50),E2F6,POU2F2,eGFP-FOS,YY1,c-Fos,CEBPB,CCNT2,Egr-1,ELK4,Pol2(b),ZNF263,SP1,IRF1,c-Myc,Oct-2,YY1_(C-20),Max,TCF4,Mxi1_(bHLH),NRSF,SIX5,eGFP-JunD,FOSL1_(SC-183),THAP1_(SC-98174),Sin3Ak-20 NA NA rs117820732 0.02 0.02 0.017 0.0217652 0.0447 0.001 0.0231 0.0045 0.0419 0.04 0.0017 0.03 0.01 0.0452 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 0.688377 NA NA 0.052558 0.01158 NA 0.065 NA 5.1908754 1141 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 1141 1 86590948 86590948 A G exonic COL24A1 NA synonymous SNV COL24A1:NM_152890:exon3:c.T1071C:p.S357S exonic ENSG00000171502 NA synonymous SNV ENSG00000171502:ENST00000370571:exon3:c.T1071C:p.S357S,ENSG00000171502:ENST00000426639:exon3:c.T1071C:p.S357S,ENSG00000171502:ENST00000436319:exon3:c.T1071C:p.S357S NA NA 1p22.3 NA NA NA NA rs11161746 0.12 0.12 0.103 0.138179 0.165 0.0605 0.1614 0.0794 0.2536 0.17 0.05 0.18 0.07 0.1631 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.760984 NA NA 0.149261 0.085958 NA 0.188 NA 5.1893056 1141 17 42978554 42978554 T C intronic CCDC103 NA NA NA intronic ENSG00000167131,ENSG00000214447 NA NA NA NA NA 17q21.31 NA Name=STAT3,Pol2 Name=115 NA rs7222312 0.26 0.26 0.255 0.244609 0.2624 0.251 0.2291 0.2337 0.2454 0.27 0.28 0.26 0.21 0.271 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38412 NA NA 0.277326 0.238084 NA 0.167 NA 5.189274 1141 14 31108977 31108977 T C intronic SCFD1 NA NA NA intronic ENSG00000092108 NA NA NA Score=637;Name=lod=518 NA 14q12 Score=1000;Name=V$SRY_01 NA NA NA rs2273521 0.41 0.41 0.41 0.417133 0.2555 0.6389 0.379 0.503 0.2658 0.24 0.62 0.37 0.48 0.3224 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.132073 2.132073 NA 0.232874 0.461661 NA 0.384 NA 5.189226 1141 6 4715980 4715980 C A intergenic ECI2,CDYL dist=580149;dist=60700 NA NA UTR5 ENSG00000153046 ENST00000328908:c.-33C>A NA NA Score=389;Name=lod=51 NA 6p25.1 NA NA Name=5 NA rs3812180 0.25 0.25 0.239 0.223043 0.2247 0.2679 0.3199 0.2685 0.045 0.22 0.24 0.28 0.27 0.2095 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.382372 1.382372 NA 0.210116 0.257376 ID=COSN167678;OCCURENCE=1(large_intestine) 0.29 NA 5.1890174 1141 20 23731494 23731494 A G exonic CST1 NA nonsynonymous SNV CST1:NM_001898:exon1:c.T10C:p.Y4H exonic ENSG00000170373 NA nonsynonymous SNV ENSG00000170373:ENST00000304749:exon1:c.T10C:p.Y4H,ENSG00000170373:ENST00000398402:exon2:c.T10C:p.Y4H NA NA 20p11.21 NA NA NA NA rs6076122 0.81 0.81 0.832 0.829673 0.7068 0.9048 0.7133 0.9607 0.7843 0.69 0.9 0.71 0.97 0.7393 0.97 0.55 T 0.004 B 0.0 B 0.892 N 1.000 P 0 N 3.21 T -1.052 T 0.000 T 0.041 0.06 4.328 0.348 -0.243 -0.844 4.127 0.060322 NA 0.7 0.698302 0.920563 NA 0.457 NA 5.1889314 1141 2 109513654 109513654 G A exonic EDAR NA synonymous SNV EDAR:NM_022336:exon12:c.C1056T:p.C352C exonic ENSG00000135960 NA synonymous SNV ENSG00000135960:ENST00000376651:exon11:c.C1152T:p.C384C,ENSG00000135960:ENST00000258443:exon12:c.C1056T:p.C352C,ENSG00000135960:ENST00000409271:exon12:c.C1152T:p.C384C Score=412;Name=lod=63 NA 2q12.3 Score=808;Name=V$COMP1_01 NA NA NA rs12623957 0.77 0.77 0.725 0.711861 0.837 0.9474 0.8429 0.3517 0.7342 0.85 0.94 0.86 0.39 0.8103 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 -0.210649 NA NA 0.830465 0.443259 NA 0.739 NA 5.1889016 1141 13 39587865 39587865 A C exonic PROSER1 NA synonymous SNV PROSER1:NM_025138:exon11:c.T1524G:p.S508S exonic ENSG00000120685 NA synonymous SNV ENSG00000120685:ENST00000350125:exon10:c.T1458G:p.S486S,ENSG00000120685:ENST00000352251:exon11:c.T1524G:p.S508S NA NA 13q13.3 NA NA NA NA rs3751378 0.2 0.2 0.187 0.223043 0.162 0.2183 0.1599 0.2458 0.3047 0.16 0.22 0.18 0.25 0.1757 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.6693 1.6693 NA 0.140581 0.243532 NA 0.188 NA 5.1883856 1141 5 150943085 150943085 G A exonic FAT2 NA synonymous SNV FAT2:NM_001447:exon2:c.C3375T:p.I1125I exonic ENSG00000086570 NA synonymous SNV ENSG00000086570:ENST00000261800:exon2:c.C3375T:p.I1125I Score=436;Name=lod=79 NA 5q33.1 NA NA NA NA rs2304054 0.43 0.43 0.421 0.411342 0.4901 0.3591 0.451 0.4092 0.3589 0.49 0.35 0.44 0.44 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 1.109828 NA NA 0.523023 0.420109 NA 0.428 NA 5.1878436 1141 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 1141 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 1141 5 56207123 56207123 T A exonic SETD9 NA nonsynonymous SNV SETD9:NM_001171990:exon2:c.T226A:p.S76T,SETD9:NM_153706:exon2:c.T226A:p.S76T exonic ENSG00000155542 NA nonsynonymous SNV ENSG00000155542:ENST00000285947:exon2:c.T226A:p.S76T,ENSG00000155542:ENST00000541720:exon2:c.T226A:p.S76T NA NA 5q11.2 NA NA NA NA rs2257505 0.52 0.52 0.488 0.489217 0.7555 0.2639 0.513 0.4175 0.5276 0.74 0.27 0.56 0.43 0.6323 0.76 1 T 0.0 B 0.0 B 0.325 N 1.000 P -1.39 N 1.57 T -0.976 T 0.000 T 0.027 -0.444 1.94 1.49 0.018 -0.076 3.615 -0.443723 NA 1 0.758256 0.478892 NA 0.478 NA 5.1872774 1141 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 1141 15 86940622 86940622 T C exonic AGBL1 NA synonymous SNV AGBL1:NM_152336:exon17:c.T2262C:p.T754T exonic ENSG00000166748 NA synonymous SNV ENSG00000166748:ENST00000389298:exon10:c.T1455C:p.T485T,ENSG00000166748:ENST00000421325:exon16:c.T2262C:p.T754T,ENSG00000166748:ENST00000441037:exon17:c.T2262C:p.T754T NA NA 15q25.3 Score=785;Name=V$ARNT_02 NA NA NA rs4362360 0.7 0.7 0.731 0.744209 0.4284 0.88 0.6859 0.9735 0.6605 0.43 0.9 0.63 0.96 0.5826 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 0.814923 NA NA 0.468818 0.90232 NA 0.652 NA 5.1868486 1141 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 1141 6 32147696 32147696 G A exonic RNF5 NA synonymous SNV RNF5:NM_006913:exon4:c.G315A:p.P105P exonic ENSG00000204308 NA synonymous SNV ENSG00000204308:ENST00000375094:exon4:c.G315A:p.P105P,ENSG00000204308:ENST00000427134:exon4:c.G315A:p.P105P NA NA 6p21.32 NA NA NA NA rs3130349 0.12 0.12 0.119 0.133187 0.159 0.0933 0.0865 0.1241 0.1933 0.17 0.08 0.08 0.11 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 0.770046 NA NA 0.182326 0.113482 NA 0.181 NA 5.1867406 1141 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 1141 5 150945699 150945699 G A exonic FAT2 NA synonymous SNV FAT2:NM_001447:exon1:c.C2794T:p.L932L exonic ENSG00000086570 NA synonymous SNV ENSG00000086570:ENST00000261800:exon1:c.C2794T:p.L932L Score=376;Name=lod=45 NA 5q33.1 NA NA NA NA rs10085060 0.44 0.44 0.426 0.419728 0.4901 0.3571 0.4539 0.441 0.3589 0.49 0.35 0.45 0.48 0.4674 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.13521 NA NA 0.52314 0.444621 NA 0.435 NA 5.1860266 1141 5 150946132 150946132 G A exonic FAT2 NA synonymous SNV FAT2:NM_001447:exon1:c.C2361T:p.I787I exonic ENSG00000086570 NA synonymous SNV ENSG00000086570:ENST00000261800:exon1:c.C2361T:p.I787I Score=433;Name=lod=77 NA 5q33.1 NA NA NA NA rs3734059 0.44 0.44 0.421 0.419529 0.4901 0.3562 0.4539 0.441 0.3589 0.49 0.35 0.45 0.48 0.4678 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.536763 NA NA 0.522907 0.444848 NA 0.435 NA 5.1858596 1141 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 1141 5 150945862 150945862 A G exonic FAT2 NA synonymous SNV FAT2:NM_001447:exon1:c.T2631C:p.V877V exonic ENSG00000086570 NA synonymous SNV ENSG00000086570:ENST00000261800:exon1:c.T2631C:p.V877V Score=289;Name=lod=20 NA 5q33.1 NA NA NA NA rs3734057 0.44 0.44 0.424 0.419728 0.4901 0.3571 0.4539 0.441 0.3589 0.49 0.35 0.45 0.48 0.4678 0.52 NA NA 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 0.52314 0.444848 NA 0.435 NA 5.1856266 1141 14 77745193 77745193 A C exonic POMT2 NA synonymous SNV POMT2:NM_013382:exon19:c.T1911G:p.L637L exonic ENSG00000009830 NA synonymous SNV ENSG00000009830:ENST00000261534:exon19:c.T1911G:p.L637L Score=417;Name=lod=66 NA 14q24.3 NA NA NA NA rs3209079 0.86 0.86 0.884 0.847045 0.8539 0.9544 0.755 0.854 0.7853 0.84 0.96 0.75 0.87 0.8176 0.96 . . . . . . . . 0.000 P . . . . -1.038 T 0.000 T . 0.27 5.46 1.73 0.093 -0.779 1.864 0.269863 NA NA 0.809651 0.838629 NA 0.746 NA 5.1855156 1141 11 45672261 45672261 A G exonic CHST1 NA synonymous SNV CHST1:NM_003654:exon4:c.T213C:p.S71S exonic ENSG00000175264 NA synonymous SNV ENSG00000175264:ENST00000308064:exon4:c.T213C:p.S71S Score=693;Name=lod=877 NA 11p11.2 Score=782;Name=V$AHRARNT_02 NA NA NA rs3802762 0.68 0.68 0.638 0.687101 0.828 0.6716 0.7795 0.3986 0.8824 0.82 0.64 0.81 0.43 0.8009 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 0.587895 NA NA 0.852291 0.452792 NA 0.616 NA 5.1854756 1141 10 3180227 3180227 T C exonic PITRM1 NA nonsynonymous SNV PITRM1:NM_001242309:exon24:c.A2816G:p.Q939R,PITRM1:NM_001242307:exon27:c.A3113G:p.Q1038R,PITRM1:NM_014889:exon27:c.A3110G:p.Q1037R exonic ENSG00000107959 NA nonsynonymous SNV ENSG00000107959:ENST00000380994:exon16:c.A1784G:p.Q595R,ENSG00000107959:ENST00000451104:exon24:c.A2816G:p.Q939R,ENSG00000107959:ENST00000224949:exon27:c.A3110G:p.Q1037R,ENSG00000107959:ENST00000380989:exon27:c.A3113G:p.Q1038R NA NA 10p15.2 NA NA NA NA rs6901 0.73 0.73 0.732 0.704273 0.7177 0.7361 0.6527 0.6861 0.7188 0.73 0.77 0.72 0.69 0.7201 0.77 1 T 0.0 B 0.0 B 0.000 N 1.000 P . . 3.88 T -0.977 T 0.000 T 0.112 -0.504 1.692 0.73 -0.351 0.767 9.666 -0.503836 NA 1 0.710218 0.723013 NA 0.797 NA 5.1853154 1141 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 1142 11 612843 612843 T G intronic IRF7 NA NA NA intronic ENSG00000185507 NA NA NA NA NA 11p15.5 NA Name=Pol2,Pol2-4H8 Name=26 NA rs10902178 0.28 0.28 0.287 0.275559 0.2674 0.0208 0.3026 0.5847 0.1094 0.26 0.01 0.34 0.58 0.2555 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075945 NA NA 0.292277 0.524296 NA 0.304 NA 5.184823 1142 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 1142 1 208062973 208062973 A T intronic CD34 NA NA NA intronic ENSG00000174059 NA NA NA Score=391;Name=lod=52 NA 1q32.2 Score=756;Name=V$STAT5A_02 NA NA NA rs2745953 0.17 0.17 0.148 0.145767 0.3181 0.0228 0.1816 0.1014 0.1299 0.31 0.02 0.21 0.12 0.2125 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.606986 1.606986 NA 0.28593 0.129369 NA 0.116 NA 5.18347 1142 11 612967 612967 A G intronic IRF7 NA NA NA intronic ENSG00000185507 NA NA NA NA NA 11p15.5 NA Name=Pol2-4H8 Name=26 NA rs11246213 0.28 0.28 0.277 0.275958 0.2674 0.0218 0.304 0.5847 0.1094 0.26 0.01 0.34 0.58 0.2568 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.432941 NA NA 0.292558 0.524512 NA 0.283 NA 5.183242 1142 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 1142 1 154474131 154474131 C G exonic SHE NA synonymous SNV SHE:NM_001010846:exon1:c.G372C:p.R124R exonic ENSG00000169291 NA synonymous SNV ENSG00000169291:ENST00000304760:exon1:c.G372C:p.R124R Score=451;Name=lod=91 NA 1q21.3 NA NA Name=19 NA rs4845635 0.81 0.81 0.825 0.776957 0.8241 0.9117 0.879 0.5635 0.8057 0.83 0.92 0.86 0.62 0.828 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 0.008276 NA NA 0.831744 0.621253 NA 0.725 NA 5.1828226 1142 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 1142 16 304514 304514 C T exonic ITFG3 NA synonymous SNV ITFG3:NM_032039:exon3:c.C102T:p.N34N exonic ENSG00000167930,ENSG00000269881 NA synonymous SNV ENSG00000269881:ENST00000600536:exon2:c.C102T:p.N34N,ENSG00000167930:ENST00000301678:exon3:c.C102T:p.N34N,ENSG00000167930:ENST00000301679:exon3:c.C102T:p.N34N,ENSG00000167930:ENST00000399932:exon3:c.C102T:p.N34N,ENSG00000167930:ENST00000420500:exon3:c.C102T:p.N34N,ENSG00000167930:ENST00000426695:exon3:c.C102T:p.N34N,ENSG00000167930:ENST00000438220:exon3:c.C102T:p.N34N,ENSG00000167930:ENST00000442458:exon3:c.C102T:p.N34N,ENSG00000167930:ENST00000447499:exon3:c.C102T:p.N34N,ENSG00000167930:ENST00000449945:exon3:c.C102T:p.N34N,ENSG00000167930:ENST00000450082:exon3:c.C102T:p.N34N,ENSG00000167930:ENST00000417499:exon4:c.C102T:p.N34N,ENSG00000167930:ENST00000419173:exon4:c.C102T:p.N34N,ENSG00000167930:ENST00000420046:exon4:c.C102T:p.N34N,ENSG00000167930:ENST00000453430:exon4:c.C102T:p.N34N NA NA 16p13.3 NA NA NA NA rs3213508 0.2 0.2 0.176 0.198083 0.1421 0.3244 0.2378 0.1437 0.1708 0.14 0.35 0.21 0.12 0.1837 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.095594 NA NA 0.159966 0.138147 NA 0.188 NA 5.1809006 1142 20 61040951 61040951 C T exonic GATA5 NA synonymous SNV GATA5:NM_080473:exon5:c.G852A:p.K284K exonic ENSG00000130700 NA synonymous SNV ENSG00000130700:ENST00000252997:exon5:c.G852A:p.K284K Score=505;Name=lod=151 NA 20q13.33 NA NA NA NA rs6587239 0.51 0.51 0.527 0.529553 0.4622 0.4315 0.4769 0.7224 0.4765 0.45 0.44 0.45 0.73 0.5461 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 0.609105 NA NA 0.477553 0.650432 ID=COSM149205;OCCURENCE=1(stomach) 0.601 NA 5.1808136 1142 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 1142 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 1142 5 159912418 159912418 C G ncRNA_exonic MIR146A NA NA NA ncRNA_exonic ENSG00000253522 NA NA NA Score=584;Name=lod=314 NA 5q34 NA NA NA Score=55;Name=1970881_0_+_55 rs2910164 0.62 0.62 0.621 NA NA NA NA NA NA 0.78 0.4 0.69 0.57 0.7208 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 2.791156 2.791156 NA 0.766332 0.615115 NA 0.601 NA 5.1795346 1142 13 39587166 39587166 A G exonic PROSER1 NA synonymous SNV PROSER1:NM_025138:exon11:c.T2223C:p.P741P exonic ENSG00000120685 NA synonymous SNV ENSG00000120685:ENST00000350125:exon10:c.T2157C:p.P719P,ENSG00000120685:ENST00000352251:exon11:c.T2223C:p.P741P NA NA 13q13.3 NA NA NA NA rs11147745 0.22 0.22 0.212 0.246805 0.162 0.2183 0.1643 0.3336 0.3047 0.16 0.22 0.19 0.34 0.1845 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917194 NA NA 0.140698 0.33409 NA 0.21 NA 5.1794686 1142 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 1142 9 86893313 86893313 A G intronic SLC28A3 NA NA NA ncRNA_exonic ENSG00000233262 NA NA NA NA NA 9q21.32 NA NA Name=49 NA rs11140490 0.19 0.19 0.209 0.204673 0.1541 0.1558 0.2305 0.3427 0.1022 0.15 0.12 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 0.747912 NA NA NA NA NA 0.275 NA 5.1792333 1142 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 1142 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 1142 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 1142 2 216283958 216283958 T A intronic FN1 NA NA NA intronic ENSG00000115414 NA NA NA NA NA 2q35 NA Name=Pol2,HEY1 Name=9 NA rs3796123 0.46 0.46 0.45 0.411542 0.2634 0.9246 0.4741 0.2224 0.2464 0.26 0.95 0.43 0.22 0.3206 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 2.065941 2.065941 NA 0.237674 0.231049 NA 0.428 NA 5.178326 1142 1 161160872 161160872 T C UTR3 ADAMTS4 NM_005099:c.*56A>G NA NA UTR3 ENSG00000158859 ENST00000367996:c.*56A>G NA NA NA NA 1q23.3 Score=957;Name=V$LYF1_01 NA NA NA rs34884997 0.19 0.19 0.172 0.164736 0.1551 0.3621 0.2305 0.0333 0.1022 0.15 0.38 0.21 0.03 NA 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.167528 NA NA NA NA NA 0.203 NA 5.1782334 1142 1 160990875 160990875 T C UTR5 F11R NM_016946:c.-12A>G NA NA UTR5;UTR3 ENSG00000158769;ENSG00000270149 ENST00000368026:c.-12A>G,ENST00000537746:c.-12A>G;ENST00000289779:c.*30A>G,ENST00000470694:c.*30A>G NA NA NA NA 1q23.3 Score=704;Name=V$HOX13_01 Name=Sin3Ak-20,NF-YB,TBP,Pol2,Pol2-4H8,TAF1,ZEB1_(SC-25388),NF-YA,HEY1 NA NA rs28365980 0.5 0.5 0.01 0.625998 0.499 0.6339 0.5231 0.7678 0.6299 0.43 0.57 0.5 0.53 0.5572 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.416575 1.416575 NA 0.09907 0.177258 NA NA NA 5.1780634 1142 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 1142 22 44602229 44602229 A C exonic PARVG NA synonymous SNV PARVG:NM_001137605:exon14:c.A919C:p.R307R,PARVG:NM_022141:exon14:c.A919C:p.R307R exonic ENSG00000138964 NA synonymous SNV ENSG00000138964:ENST00000415224:exon14:c.A919C:p.R307R,ENSG00000138964:ENST00000422871:exon14:c.A919C:p.R307R,ENSG00000138964:ENST00000444313:exon14:c.A919C:p.R307R Score=313;Name=lod=25 NA 22q13.31 Score=830;Name=V$GR_Q6 NA NA NA rs139186 0.76 0.76 0.772 0.73123 0.8569 0.6518 0.67 0.789 0.6493 0.85 0.66 0.69 0.78 0.7886 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 -0.789807 NA NA 0.845465 0.789832 NA 0.717 NA 5.1757016 1142 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 1142 5 176863519 176863519 G C exonic GRK6 NA synonymous SNV GRK6:NM_001004105:exon13:c.G1392C:p.P464P,GRK6:NM_001004106:exon13:c.G1392C:p.P464P,GRK6:NM_002082:exon13:c.G1392C:p.P464P exonic ENSG00000198055 NA synonymous SNV ENSG00000198055:ENST00000355472:exon13:c.G1392C:p.P464P,ENSG00000198055:ENST00000355958:exon13:c.G1392C:p.P464P,ENSG00000198055:ENST00000393576:exon13:c.G1290C:p.P430P,ENSG00000198055:ENST00000507633:exon13:c.G1392C:p.P464P,ENSG00000198055:ENST00000528793:exon13:c.G1392C:p.P464P Score=491;Name=lod=132 NA 5q35.3 NA NA NA NA rs1130857 0.39 0.39 0.398 0.362021 0.5 0.2629 0.3646 0.3941 0.2771 0.51 0.24 0.41 0.35 0.4479 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065635 NA NA 0.54323 0.415833 NA 0.384 NA 5.1755366 1142 6 4069166 4069166 C T exonic FAM217A NA nonsynonymous SNV FAM217A:NM_173563:exon7:c.G1291A:p.V431I exonic ENSG00000145975 NA nonsynonymous SNV ENSG00000145975:ENST00000274673:exon7:c.G1291A:p.V431I NA NA 6p25.2 NA NA NA NA rs595413 0.56 0.56 0.555 0.545927 0.7406 0.6458 0.634 0.1362 0.7342 0.74 0.63 0.64 0.16 0.6793 0.74 0.23 T 0.319 B 0.069 B 0.526 N 1.000 P 1.555 L 2.03 T -0.992 T 0.015 T 0.113 0.395 6.145 0.752 -0.051 0.212 4.962 0.395009 NA 0.3 0.738023 0.218793 NA 0.609 NA 5.1754104 1142 3 86063065 86063065 G T intronic CADM2 NA NA NA ncRNA_exonic ENSG00000243915 NA NA NA Score=692;Name=lod=869 NA 3p12.1 NA NA NA NA rs9881057 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 -0.204526 NA NA NA NA NA 0.225 NA 5.1752333 1142 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 1142 X 151909156 151909156 A G exonic CSAG1 NA nonsynonymous SNV CSAG1:NM_001102576:exon4:c.A185G:p.K62R,CSAG1:NM_153478:exon5:c.A185G:p.K62R exonic ENSG00000198930 NA nonsynonymous SNV ENSG00000198930:ENST00000452779:exon4:c.A185G:p.K62R,ENSG00000198930:ENST00000370287:exon5:c.A185G:p.K62R NA NA Xq28 NA NA NA NA rs2515848 0.58 0.58 0.562 NA NA NA NA NA NA 0.56 0.32 0.78 0.76 0.5736 0.78 0.25 T 0.0 B 0.0 B . . 1.000 P . . 1.35 T -1.010 T 0.000 T 0.09 -0.622 1.239 0.837 -0.098 0.195 . -0.62196 NA 0.43 0.584721 0.728292 NA 0.435 NA 5.1750124 1143 19 58189287 58189287 C T exonic ZSCAN4 NA synonymous SNV ZSCAN4:NM_152677:exon4:c.C402T:p.H134H exonic ENSG00000180532 NA synonymous SNV ENSG00000180532:ENST00000318203:exon4:c.C402T:p.H134H NA NA 19q13.43 NA NA NA NA rs9676604 0.18 0.18 0.183 0.159345 0.164 0.2629 0.134 0.1664 0.0562 0.16 0.27 0.14 0.16 0.1635 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.707697 NA NA 0.164419 0.157512 ID=COSM148786;OCCURENCE=1(stomach) 0.167 NA 5.1747476 1143 8 133053318 133053318 T C exonic OC90 NA nonsynonymous SNV OC90:NM_001080399:exon6:c.A430G:p.N144D exonic ENSG00000253117,ENSG00000258417 NA nonsynonymous SNV ENSG00000253117:ENST00000254627:exon6:c.A430G:p.N144D,ENSG00000258417:ENST00000443356:exon6:c.A430G:p.N144D,ENSG00000258417:ENST00000603859:exon6:c.A430G:p.N144D,ENSG00000258417:ENST00000262283:exon9:c.A1018G:p.N340D NA NA 8q24.22 NA NA NA NA rs7386783 0.74 0.74 0.715 0.73742 0.7137 0.7728 0.7709 0.7262 0.7168 0.71 0.8 0.73 0.73 0.7287 0.8 0.96 T 0.0 B 0.002 B 0.176 N 1.000 P 0.28 N 1.75 T -0.964 T 0.000 T 0.002 -1.787 0.01 1.15 -0.034 0.246 5.147 -1.786793 NA 1 0.716782 0.750866 NA 0.63 NA 5.1741514 1143 8 133053309 133053309 T C exonic OC90 NA nonsynonymous SNV OC90:NM_001080399:exon6:c.A439G:p.S147G exonic ENSG00000253117,ENSG00000258417 NA nonsynonymous SNV ENSG00000253117:ENST00000254627:exon6:c.A439G:p.S147G,ENSG00000258417:ENST00000443356:exon6:c.A439G:p.S147G,ENSG00000258417:ENST00000603859:exon6:c.A439G:p.S147G,ENSG00000258417:ENST00000262283:exon9:c.A1027G:p.S343G NA NA 8q24.22 NA NA NA NA rs7386782 0.74 0.74 0.71 0.73762 0.7137 0.7728 0.7709 0.7262 0.7178 0.71 0.8 0.73 0.73 0.7287 0.8 0.45 T 0.001 B 0.001 B 0.418 N 1.000 P 0.865 L 1.68 T -1.035 T 0.000 T 0.03 -1.115 0.13 0.415 -0.102 -0.175 5.050 -1.114847 NA 0.34 0.717033 0.749754 NA 0.63 NA 5.1739004 1143 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 1143 22 50528916 50528916 C T exonic MOV10L1 NA synonymous SNV MOV10L1:NM_001164105:exon1:c.C12T:p.L4L exonic ENSG00000073146 NA synonymous SNV ENSG00000073146:ENST00000540615:exon1:c.C12T:p.L4L NA NA 22q13.33 NA NA NA NA rs9617018 0.17 0.17 0.136 0.164736 0.1352 0.1944 0.3127 0.0946 0.1544 0.14 0.24 0.26 0.08 0.2109 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.017281 NA NA 0.147404 0.106186 NA 0.145 NA 5.1731626 1143 2 112702647 112702647 C T intronic MERTK NA NA NA intronic ENSG00000153208 NA NA NA NA NA 2q13 NA Name=p300,FOXA1_(C-20),FOXA1_(SC-101058),HNF4G_(SC-6558),GATA3_(SC-268),FOXA2_(SC-6554),SP1,HNF4A_(H-171) 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 1143 17 77073566 77073566 G A exonic ENGASE NA synonymous SNV ENGASE:NM_001042573:exon2:c.G201A:p.P67P exonic ENSG00000167280 NA synonymous SNV ENSG00000167280:ENST00000578419:exon2:c.G201A:p.P67P,ENSG00000167280:ENST00000579016:exon2:c.G201A:p.P67P NA NA 17q25.3 NA NA NA NA rs3744181 0.2 0.2 0.178 0.249002 0.1292 0.3274 0.3112 0.1672 0.3579 0.14 0.33 0.25 0.13 0.2134 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.234073 NA NA 0.151493 0.150615 NA 0.145 NA 5.1725736 1143 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),FOXA1_(C-20),TCF4 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 1143 15 20170150 20170150 C T intergenic NONE,CHEK2P2 dist=NONE;dist=317847 NA NA exonic ENSG00000188403 NA nonsynonymous SNV ENSG00000188403:ENST00000338912:exon2:c.G122A:p.C41Y Score=478;Name=lod=117 NA 15q11.1 NA NA NA NA rs10431885 0.24 0.24 0.228 0.245008 0.2396 0.4117 0.2493 0.1778 0.1667 0.21 0.37 0.25 0.14 0.2169 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127701 NA 0 0.204979 0.159398 NA 0.152 NA 5.1718544 1143 5 77784738 77784738 A G exonic LHFPL2 NA synonymous SNV LHFPL2:NM_005779:exon5:c.T669C:p.N223N exonic ENSG00000145685 NA synonymous SNV ENSG00000145685:ENST00000515007:exon3:c.T669C:p.N223N,ENSG00000145685:ENST00000380345:exon5:c.T669C:p.N223N Score=482;Name=lod=121 NA 5q14.1 NA NA NA NA rs2241566 0.74 0.74 0.758 NA NA NA NA NA NA 0.78 0.66 0.59 0.87 0.7285 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 1.122633 NA NA 0.766512 0.881298 NA 0.877 NA 5.1716546 1143 3 112998268 112998268 G A exonic BOC NA synonymous SNV BOC:NM_033254:exon12:c.G1986A:p.S662S exonic ENSG00000144857 NA synonymous SNV ENSG00000144857:ENST00000273395:exon12:c.G1989A:p.S663S,ENSG00000144857:ENST00000355385:exon12:c.G1986A:p.S662S,ENSG00000144857:ENST00000495514:exon12:c.G1986A:p.S662S NA NA 3q13.2 NA NA NA NA rs2650100 0.19 0.19 0.188 0.180511 0.1581 0.1597 0.0994 0.3132 0.1033 0.17 0.15 0.11 0.31 0.163 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01901 NA NA 0.174302 0.314571 NA 0.181 NA 5.1712646 1143 8 144944638 144944638 G A exonic EPPK1 NA synonymous SNV EPPK1:NM_031308:exon1:c.C2784T:p.G928G exonic ENSG00000227184 NA synonymous SNV ENSG00000227184:ENST00000525985:exon2:c.C2784T:p.G928G NA NA 8q24.3 NA NA NA NA rs56118826 0.12 0.12 0.106 0.114417 0.175 0.0407 0.1686 0.0598 0.1636 0.18 0.03 0.19 0.08 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 0.437768 NA NA 0.162233 0.079795 NA 0.145 NA 5.1707336 1143 8 139647262 139647262 A G exonic COL22A1 NA synonymous SNV COL22A1:NM_152888:exon49:c.T3600C:p.P1200P exonic ENSG00000169436 NA synonymous SNV ENSG00000169436:ENST00000435777:exon48:c.T3540C:p.P1180P,ENSG00000169436:ENST00000303045:exon49:c.T3600C:p.P1200P Score=387;Name=lod=50 NA 8q24.23 Score=809;Name=V$OLF1_01 NA NA NA rs10091563 0.75 0.75 0.719 0.709864 0.8529 0.8998 0.7421 0.4402 0.7086 0.85 0.89 0.72 0.46 0.7918 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 0.438565 NA NA 0.851628 0.506355 NA 0.667 NA 5.1703386 1143 4 125590478 125590478 T C exonic ANKRD50 NA synonymous SNV ANKRD50:NM_001167882:exon3:c.A3417G:p.P1139P,ANKRD50:NM_020337:exon4:c.A3954G:p.P1318P exonic ENSG00000151458 NA synonymous SNV ENSG00000151458:ENST00000515641:exon3:c.A3417G:p.P1139P,ENSG00000151458:ENST00000504087:exon4:c.A3954G:p.P1318P NA NA 4q28.1 NA NA NA NA rs1874748 0.19 0.19 0.173 0.213658 0.16 0.2421 0.1816 0.2292 0.2413 0.16 0.23 0.16 0.23 0.1849 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132238 NA NA 0.151512 0.219927 NA 0.123 NA 5.1702546 1143 12 108154199 108154199 A G intronic PRDM4 NA NA NA intronic ENSG00000110851 NA NA NA NA NA 12q23.3 NA Name=USF-1,USF2 Name=32 NA rs2302733 0.22 0.22 0.2 0.221446 0.4175 0.121 0.2608 0.0257 0.3599 0.4 0.11 0.26 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 0.62036 NA NA 0.412319 0.078757 ID=COSN164363;OCCURENCE=1(NS) 0.188 NA 5.170181 1143 6 89907873 89907873 G A exonic GABRR1 NA synonymous SNV GABRR1:NM_001256703:exon4:c.C387T:p.D129D,GABRR1:NM_002042:exon5:c.C438T:p.D146D,GABRR1:NM_001256704:exon6:c.C177T:p.D59D,GABRR1:NM_001267582:exon7:c.C177T:p.D59D exonic ENSG00000146276 NA synonymous SNV ENSG00000146276:ENST00000435811:exon4:c.C387T:p.D129D,ENSG00000146276:ENST00000454853:exon5:c.C438T:p.D146D,ENSG00000146276:ENST00000369451:exon7:c.C177T:p.D59D Score=552;Name=lod=233 NA 6q15 NA NA NA Score=81;Name=2070145_0_+_81 rs422751 0.84 0.84 0.833 0.79393 0.84 0.9464 0.8775 0.6354 0.7444 0.85 0.95 0.85 0.67 0.8262 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 1.194973 NA NA 0.830465 0.667499 NA 0.812 NA 5.1700016 1143 18 3176040 3176040 C G exonic MYOM1 NA nonsynonymous SNV MYOM1:NM_003803:exon6:c.G1022C:p.G341A,MYOM1:NM_019856:exon6:c.G1022C:p.G341A exonic ENSG00000101605 NA nonsynonymous SNV ENSG00000101605:ENST00000261606:exon6:c.G1022C:p.G341A,ENSG00000101605:ENST00000356443:exon6:c.G1022C:p.G341A,ENSG00000101605:ENST00000400569:exon6:c.G1022C:p.G341A NA NA 18p11.31 NA NA NA NA rs8099021 0.75 0.75 0.742 0.757188 0.7097 0.7421 0.7579 0.7829 0.7863 0.71 0.74 0.76 0.83 0.7384 0.83 . . 0.0 B 0.001 B 0.943 N 1.000 P -0.02 N -0.78 T -0.916 T 0.000 T 0.027 -1.34 0.03 1.97 -0.160 0.158 14.746 -1.340284 NA NA 0.715588 0.808134 NA 0.732 NA 5.1696454 1143 5 453567 453567 G A exonic EXOC3 NA synonymous SNV EXOC3:NM_007277:exon4:c.G447A:p.E149E exonic ENSG00000180104 NA synonymous SNV ENSG00000180104:ENST00000315013:exon3:c.G447A:p.E149E,ENSG00000180104:ENST00000512944:exon4:c.G447A:p.E149E,ENSG00000180104:ENST00000515601:exon4:c.G447A:p.E149E Score=559;Name=lod=250 NA 5p15.33 NA NA NA NA rs2672722 0.54 0.54 0.565 0.579073 0.4533 0.5337 0.4928 0.8048 0.5112 0.44 0.51 0.48 0.79 0.5554 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 1.1371 NA NA 0.488411 0.758637 NA 0.63 NA 5.1695556 1143 15 66063531 66063531 G A intronic DENND4A NA NA NA ncRNA_exonic ENSG00000259924 NA NA NA Score=662;Name=lod=653 NA 15q22.31 NA NA NA NA rs2727100 0.29 0.29 0.298 0.307308 0.164 0.7232 0.1945 0.1286 0.3476 0.16 0.69 0.2 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 -0.721462 NA NA NA NA NA 0.29 NA 5.1693333 1143 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 1143 14 94405871 94405871 G C exonic ASB2 NA synonymous SNV ASB2:NM_016150:exon6:c.C1056G:p.A352A,ASB2:NM_001202429:exon8:c.C1200G:p.A400A exonic ENSG00000100628 NA synonymous SNV ENSG00000100628:ENST00000315988:exon6:c.C1056G:p.A352A,ENSG00000100628:ENST00000555507:exon6:c.C894G:p.A298A,ENSG00000100628:ENST00000555019:exon8:c.C1200G:p.A400A NA NA 14q32.12 Score=751;Name=V$ROAZ_01 Name=TCF12,Max NA NA rs10873442 0.82 0.82 0.838 0.803914 0.836 0.9008 0.6427 0.7965 0.7955 0.82 0.89 0.7 0.8 0.8052 0.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.966952 NA NA 0.856595 0.825296 NA NA NA 5.1688716 1143 16 28856819 28856819 C T intronic TUFM NA NA NA intronic ENSG00000178952 NA NA NA NA NA 16p11.2 NA Name=FOXA1_(SC-101058),HA-E2F1,Pol2,FOXA1_(C-20),TBP Name=73 NA rs8061877 0.32 0.32 0.318 0.373203 0.2664 0.4514 0.2464 0.2466 0.6636 0.24 0.45 0.31 0.29 0.3086 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.224649 NA NA 0.256395 0.227811 NA 0.341 NA 5.168605 1143 1 197009798 197009798 A G exonic F13B NA synonymous SNV F13B:NM_001994:exon11:c.T1806C:p.N602N exonic ENSG00000143278 NA synonymous SNV ENSG00000143278:ENST00000367412:exon11:c.T1806C:p.N602N Score=397;Name=lod=55 NA 1q31.3 NA NA NA NA rs5998 0.54 0.54 0.504 0.52496 0.501 0.8194 0.6455 0.1921 0.6104 0.5 0.81 0.61 0.22 0.527 0.81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.915131 NA NA 0.470081 0.229545 NA 0.486 NA 5.1685856 1143 14 22695128 22695128 A G intergenic OR4E2,DAD1 dist=560890;dist=338679 NA NA exonic ENSG00000211815 NA nonsynonymous SNV ENSG00000211815:ENST00000390463:exon2:c.A319G:p.I107V Score=343;Name=lod=33 NA 14q11.2 NA NA Name=4 NA rs12889091 0.51 0.51 0.51 0.503994 0.5815 0.2728 0.4957 0.6331 0.4939 0.58 0.31 0.5 0.65 0.5267 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.6733 NA 0.66 0.557119 0.611254 NA 0.565 NA 5.1680144 1143 20 53259964 53259964 G C intronic DOK5 NA NA NA intronic ENSG00000101134 NA NA NA NA NA 20q13.2 Score=947;Name=V$NFE2_01 NA Name=21 NA rs6064099 0.38 0.38 0.386 0.378195 0.2555 0.4504 0.2334 0.6044 0.227 0.26 0.47 0.22 0.57 0.3093 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.030942 NA NA 0.267209 0.541307 NA 0.42 NA 5.167991 1143 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 1143 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 1143 12 121458400 121458400 C T exonic OASL NA synonymous SNV OASL:NM_001261825:exon4:c.G1119A:p.S373S,OASL:NM_003733:exon6:c.G1509A:p.S503S exonic ENSG00000135114 NA synonymous SNV ENSG00000135114:ENST00000257570:exon6:c.G1509A:p.S503S NA NA 12q24.31 NA NA NA NA rs12819210 0.11 0.11 0.103 0.101837 0.167 0.1399 0.049 0.0219 0.1411 0.17 0.12 0.06 0.03 0.1516 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359375 NA NA 0.180814 0.049932 NA 0.065 NA 5.1672526 1143 16 1261282 1261282 T C exonic CACNA1H NA synonymous SNV CACNA1H:NM_001005407:exon22:c.T4338C:p.I1446I,CACNA1H:NM_021098:exon22:c.T4338C:p.I1446I exonic ENSG00000196557 NA synonymous SNV ENSG00000196557:ENST00000565831:exon21:c.T4338C:p.I1446I,ENSG00000196557:ENST00000348261:exon22:c.T4338C:p.I1446I,ENSG00000196557:ENST00000358590:exon22:c.T4338C:p.I1446I Score=610;Name=lod=403 NA 16p13.3 NA Name=Pol2 NA NA rs4984637 0.9 0.9 0.906 0.917732 0.8231 1 0.8487 0.9319 0.9601 0.82 1 0.84 0.94 0.8597 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.467972 NA NA 0.816651 0.909427 NA 0.761 NA 5.1672156 1143 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 1143 14 68117422 68117422 G C intronic ARG2 NA NA NA UTR3 ENSG00000100568 ENST00000554659:c.*680C>G NA NA NA NA 14q24.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313318 NA NA NA NA NA NA NA 5.1666667 1143 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 1143 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 1143 19 55049216 55049216 G A ncRNA_exonic KIR3DX1 NA NA NA exonic ENSG00000104970 NA synonymous SNV ENSG00000104970:ENST00000221567:exon6:c.G981A:p.Q327Q,ENSG00000104970:ENST00000335056:exon6:c.G981A:p.Q327Q NA NA 19q13.42 NA NA NA NA rs372499749 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003312 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 -1.047877 NA NA 0.000122 0 NA NA NA 5.1665115 1143 10 134915821 134915821 C T intronic GPR123 NA NA NA UTR5 ENSG00000197177 ENST00000392606:c.-416C>T NA NA NA NA 10q26.3 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 1.21944 NA NA NA NA NA NA NA 5.1664667 1143 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 1143 14 93179134 93179134 C T intronic LGMN NA NA NA exonic ENSG00000100600 NA nonsynonymous SNV ENSG00000100600:ENST00000556097:exon8:c.G626A:p.R209H NA NA 14q32.12 NA NA NA NA rs183320757 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0005 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 0.006204 NA NA 0.000116 0.000227 NA NA NA 5.1660507 1143 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 1143 19 32973077 32973077 C T exonic DPY19L3 NA synonymous SNV DPY19L3:NM_001172774:exon19:c.C2082T:p.Y694Y,DPY19L3:NM_207325:exon19:c.C2082T:p.Y694Y exonic ENSG00000178904 NA synonymous SNV ENSG00000178904:ENST00000342179:exon19:c.C2082T:p.Y694Y,ENSG00000178904:ENST00000392250:exon19:c.C2082T:p.Y694Y NA NA 19q13.11 NA NA NA NA rs7253039 0.16 0.16 0.164 0.179113 0.161 0.119 0.1916 0.2474 0.1585 0.15 0.12 0.16 0.23 0.1755 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057224 NA NA 0.164535 0.239673 NA 0.188 NA 5.1656316 1143 6 151121915 151121915 G A exonic PLEKHG1 NA synonymous SNV PLEKHG1:NM_001029884:exon7:c.G690A:p.E230E exonic ENSG00000120278 NA synonymous SNV ENSG00000120278:ENST00000475490:exon4:c.G231A:p.E77E,ENSG00000120278:ENST00000358517:exon6:c.G690A:p.E230E,ENSG00000120278:ENST00000367328:exon7:c.G690A:p.E230E NA NA 6q25.1 NA NA Name=31 NA rs2073061 0.64 0.64 0.646 0.652756 0.4841 0.8046 0.5216 0.8011 0.5624 0.49 0.8 0.51 0.79 0.5433 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 1.000112 NA NA 0.473837 0.748298 ID=COSM1179832;OCCURENCE=1(prostate) 0.667 NA 5.1654296 1144 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 1144 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 1144 1 208219164 208219164 A C intronic PLXNA2 NA NA NA intronic ENSG00000076356 NA NA NA NA NA 1q32.2 NA Name=CTCF,CTCF_(SC-5916) Name=8 NA rs1536471 0.78 0.78 0.776 0.755192 0.836 0.621 0.8487 0.8283 0.6452 0.84 0.65 0.82 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 -0.25678 NA NA NA NA NA 0.797 NA 5.164 1144 11 30033191 30033191 G A exonic KCNA4 NA synonymous SNV KCNA4:NM_002233:exon2:c.C1035T:p.G345G exonic ENSG00000182255 NA synonymous SNV ENSG00000182255:ENST00000328224:exon2:c.C1035T:p.G345G NA NA 11p14.1 NA NA NA NA rs3802914 0.16 0.16 0.159 0.170727 0.171 0.0357 0.1801 0.3154 0.1074 0.16 0.03 0.17 0.29 0.1697 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.044379 NA NA 0.16309 0.293205 NA 0.109 NA 5.1628766 1144 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 1144 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 1144 12 66696410 66696410 C T exonic HELB NA synonymous SNV HELB:NM_033647:exon1:c.C27T:p.R9R exonic ENSG00000127311 NA synonymous SNV ENSG00000127311:ENST00000247815:exon1:c.C27T:p.R9R,ENSG00000127311:ENST00000440906:exon1:c.C27T:p.R9R,ENSG00000127311:ENST00000542394:exon1:c.C27T:p.R9R,ENSG00000127311:ENST00000545134:exon1:c.C27T:p.R9R NA NA 12q14.3 NA Name=YY1,TBP,Pol2(b),ELK4,GTF2F1_(RAP-74),ZNF263,TCF4,Max,Mxi1_(bHLH),STAT3,Sin3Ak-20,GATA3_(SC-268),GABP,Pol2-4H8,NFKB,TAF1,STAT1,ELF1_(SC-631),HEY1,Pol2,Ini1 NA NA rs3741604 0.32 0.32 0.345 0.303315 0.5308 0.1825 0.3256 0.143 0.3947 0.52 0.22 0.34 0.13 0.4319 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.604624 NA NA 0.541744 0.215161 NA 0.225 NA 5.1622226 1144 12 5603632 5603632 G A exonic NTF3 NA synonymous SNV NTF3:NM_002527:exon1:c.G252A:p.P84P,NTF3:NM_001102654:exon2:c.G291A:p.P97P exonic ENSG00000185652 NA synonymous SNV ENSG00000185652:ENST00000331010:exon1:c.G252A:p.P84P,ENSG00000185652:ENST00000423158:exon2:c.G291A:p.P97P NA NA 12p13.31 Score=832;Name=V$CHOP_01 NA NA NA rs6332 0.49 0.49 0.463 0.488219 0.503 0.4583 0.438 0.5325 0.4796 0.5 0.45 0.47 0.54 0.4907 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178492 NA NA 0.51093 0.52837 NA 0.471 NA 5.1620366 1144 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 1144 14 53619544 53619544 G A exonic DDHD1 NA synonymous SNV DDHD1:NM_001160147:exon1:c.C273T:p.F91F,DDHD1:NM_001160148:exon1:c.C273T:p.F91F,DDHD1:NM_030637:exon1:c.C273T:p.F91F exonic ENSG00000100523 NA synonymous SNV ENSG00000100523:ENST00000323669:exon1:c.C273T:p.F91F,ENSG00000100523:ENST00000357758:exon1:c.C273T:p.F91F,ENSG00000100523:ENST00000395606:exon1:c.C273T:p.F91F Score=552;Name=lod=233 NA 14q22.1 NA Name=E2F6 NA NA rs2358189 0.77 0.77 0.753 0.750399 0.835 0.9673 0.8501 0.3722 0.8804 0.85 0.97 0.83 0.38 0.8326 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 1.740059 1.740059 NA 0.837832 0.442045 NA 0.514 NA 5.1612346 1144 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 1144 11 59831716 59831716 C A intronic MS4A3 NA NA NA intronic ENSG00000149516 NA NA NA NA NA 11q12.1 NA Name=PU.1 Name=7 NA rs1151065 0.24 0.24 0.261 0.295727 0.2724 0.2282 0.1844 0.267 0.5072 0.28 0.19 0.21 0.27 0.288 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389857 NA NA 0.278929 0.234439 NA 0.254 NA 5.160671 1144 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 1144 2 37458711 37458711 G A UTR5 CEBPZ NM_005760:c.-1C>T NA NA UTR5 ENSG00000115816 ENST00000234170:c.-1C>T NA NA NA NA 2p22.2 NA Name=Sin3Ak-20,SIX5,eGFP-JunD,STAT3,Mxi1_(bHLH),NRSF,PAX5-C20,Max,YY1_(C-20),Oct-2,c-Myc,SP1,IRF1,SRF,ZNF263,GTF2F1_(RAP-74),JunD,Pol2(b),ELK4,TBP,CEBPB,YY1,p300,TCF12,TAF7_(SQ-8),E2F6,POU2F2,GTF2B,E2F6_(H-50),FOSL2,Pol2,Pol2(phosphoS2),HA-E2F1,ELF1_(SC-631),HEY1,E2F1,TAF1,NFKB,GABP,Pol2-4H8 Name=148 NA rs3213745 0.36 0.36 0.341 0.293131 0.4235 0.37 0.3314 0.1634 0.228 0.42 0.42 0.34 0.2 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 0.907884 NA NA 0.39814 0.185656 NA 0.29 NA 5.1604934 1144 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 1144 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 1144 17 8167600 8167600 T C exonic PFAS NA nonsynonymous SNV PFAS:NM_012393:exon16:c.T1862C:p.L621P exonic ENSG00000178921 NA nonsynonymous SNV ENSG00000178921:ENST00000545834:exon14:c.T590C:p.L197P,ENSG00000178921:ENST00000314666:exon16:c.T1862C:p.L621P NA NA 17p13.1 NA NA NA NA rs11078738 0.54 0.54 0.487 0.525759 0.7694 0.2708 0.5677 0.5204 0.5153 0.78 0.26 0.59 0.48 0.6513 0.78 1 T 0.0 B 0.0 B 0.006 N 1.000 P 0 N 2.08 T -0.946 T 0.000 T 0.118 0.276 5.493 1.53 -0.109 0.220 5.668 0.275891 NA NA 0.753488 0.566954 NA 0.572 NA 5.1591454 1144 16 813650 813650 G A exonic MSLN NA synonymous SNV MSLN:NM_013404:exon4:c.G138A:p.A46A,MSLN:NM_001177355:exon5:c.G138A:p.A46A,MSLN:NM_005823:exon5:c.G138A:p.A46A exonic ENSG00000102854 NA synonymous SNV ENSG00000102854:ENST00000382862:exon4:c.G138A:p.A46A,ENSG00000102854:ENST00000563651:exon4:c.G138A:p.A46A,ENSG00000102854:ENST00000566549:exon4:c.G138A:p.A46A,ENSG00000102854:ENST00000569566:exon4:c.G138A:p.A46A,ENSG00000102854:ENST00000545450:exon5:c.G138A:p.A46A,ENSG00000102854:ENST00000563941:exon5:c.G138A:p.A46A NA NA 16p13.3 NA NA NA NA rs3765319 0.17 0.17 0.16 0.144569 0.1501 0.3006 0.1153 0.0477 0.1299 0.16 0.31 0.12 0.05 0.1707 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.212977 NA NA 0.186976 0.06814 NA 0.101 NA 5.1588906 1144 5 177548085 177548085 C A intronic N4BP3 NA NA NA intronic ENSG00000145911 NA NA NA NA NA 5q35.3 NA Name=PAX5-C20,Sin3Ak-20,Rad21,c-Myc,Max,CTCFL_(SC-98982),ZNF263,CCNT2,PAX5-N19,CTCF,E2F6_(H-50),E2F6,p300,TCF12,HA-E2F1,USF1_(SC-8983),Pol2,Pbx3,ELF1_(SC-631),Pol2-4H8,EBF1_(C-8),Znf143_(16618-1-AP),IRF4_(M-17),CTCF_(C-20),HMGN3,ZEB1_(SC-25388) Name=126 NA rs7712666 0.35 0.35 0.342 0.367612 0.2773 0.4177 0.3963 0.407 0.3354 0.28 0.38 0.38 0.41 0.3151 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.825151 NA NA 0.249068 0.362892 NA 0.319 NA 5.158532 1144 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=HNF4A_(H-171),MafK_(SC-477),MafF_(M8194),FOXA2_(SC-6554),RXRA,c-Jun,HNF4G_(SC-6558),FOXA1_(SC-101058),FOXA1_(C-20),MafK_(ab50322),p300 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 1144 16 4016676 4016676 A G exonic ADCY9 NA synonymous SNV ADCY9:NM_001116:exon11:c.T3162C:p.H1054H exonic ENSG00000162104 NA synonymous SNV ENSG00000162104:ENST00000294016:exon11:c.T3162C:p.H1054H Score=540;Name=lod=209 NA 16p13.3 Score=940;Name=V$MEIS1_01 NA NA NA rs2230742 0.79 0.79 0.797 0.730631 0.8469 0.8323 0.8372 0.6475 0.5429 0.85 0.86 0.82 0.61 0.8052 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 0.577232 NA NA 0.856977 0.692308 NA 0.768 NA 5.1575896 1144 6 55266625 55266625 T C exonic GFRAL NA nonsynonymous SNV GFRAL:NM_207410:exon9:c.T1159C:p.S387P exonic ENSG00000187871 NA nonsynonymous SNV ENSG00000187871:ENST00000340465:exon9:c.T1159C:p.S387P NA NA 6p12.1 NA NA NA NA rs9370418 0.74 0.74 0.72 0.691693 0.7266 0.7956 0.8084 0.5469 0.6616 0.73 0.8 0.78 0.64 0.7082 0.8 1 T 0.0 B 0.0 B 0.280 N 1.000 P -0.205 N 1.35 T -1.034 T 0.012 T 0.043 -2.464 0.003 0.877 -0.414 -0.654 8.738 -2.463876 NA 0.5 0.741163 0.587835 ID=COSM1685468;OCCURENCE=1(skin) 0.783 NA 5.1573704 1144 10 18803338 18803338 A G intronic CACNB2 NA NA NA ncRNA_intronic ENSG00000240291 NA NA NA Score=446;Name=lod=87 NA 10p12.31 NA NA NA NA rs12357063 0.02 0.02 0.019 0.014377 0.0527 0.001 0.0187 0.0015 0.0031 0.05 NA 0.02 0.0041 0.0472 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 2.324553 2.324553 NA 0.076744 0.014753 NA NA NA 5.1566893 1144 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 1144 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 1144 4 77660162 77660162 G C exonic SHROOM3 NA nonsynonymous SNV SHROOM3:NM_020859:exon5:c.G836C:p.G279A exonic ENSG00000138771 NA nonsynonymous SNV ENSG00000138771:ENST00000296043:exon5:c.G836C:p.G279A NA NA 4q21.1 NA NA NA NA rs344140 0.67 0.67 0.639 0.664936 0.7107 0.6022 0.7003 0.612 0.729 0.71 0.56 0.73 0.67 0.716 0.75 1 T 0.002 B 0.003 B 0.982 N 1.000 P 0 N 1.02 T -0.903 T 0.000 T 0.011 -2.357 0.004 -0.947 -0.361 0.784 18.386 -2.35715 NA 1 0.751395 0.628915 NA 0.659 NA 5.1552384 1145 2 235951819 235951819 A G exonic SH3BP4 NA synonymous SNV SH3BP4:NM_014521:exon4:c.A2406G:p.L802L exonic ENSG00000130147 NA synonymous SNV ENSG00000130147:ENST00000344528:exon4:c.A2406G:p.L802L,ENSG00000130147:ENST00000392011:exon4:c.A2406G:p.L802L,ENSG00000130147:ENST00000409212:exon4:c.A2406G:p.L802L Score=493;Name=lod=135 NA 2q37.2 NA NA NA NA rs3795962 0.71 0.71 0.737 0.752196 0.4612 0.9157 0.6499 0.9576 0.6779 0.47 0.91 0.6 0.94 0.5864 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 -0.839721 NA NA 0.464419 0.880844 ID=COSM1129279;OCCURENCE=1(prostate) 0.783 NA 5.1546476 1145 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 1145 1 34663180 34663180 G A exonic C1orf94 NA synonymous SNV C1orf94:NM_001134734:exon2:c.G675A:p.R225R,C1orf94:NM_032884:exon2:c.G105A:p.R35R exonic ENSG00000142698 NA synonymous SNV ENSG00000142698:ENST00000373374:exon2:c.G105A:p.R35R,ENSG00000142698:ENST00000488417:exon2:c.G675A:p.R225R NA NA 1p34.3 NA NA NA NA rs3795412 0.12 0.12 0.138 0.115016 0.164 0.0575 0.1124 0.1346 0.0992 0.16 0.05 0.13 0.15 0.1537 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.29598 NA NA 0.195349 0.157512 NA 0.08 NA 5.1536176 1145 17 4542717 4542717 G A intronic ALOX15 NA NA NA intronic ENSG00000161905 NA NA NA NA NA 17p13.2 NA Name=CTCF,GABP,CTCF_(SC-5916),TBP Name=59 NA rs11078528 0.31 0.31 0.282 0.294529 0.2624 0.3264 0.3501 0.2912 0.2597 0.28 0.33 0.35 0.32 0.2984 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130398 NA NA 0.285598 0.282569 NA 0.109 NA 5.153602 1145 16 28506428 28506428 C T exonic APOBR NA synonymous SNV APOBR:NM_018690:exon2:c.C66T:p.L22L exonic ENSG00000184730 NA synonymous SNV ENSG00000184730:ENST00000328423:exon2:c.C66T:p.L22L,ENSG00000184730:ENST00000431282:exon2:c.C66T:p.L22L,ENSG00000184730:ENST00000564831:exon2:c.C66T:p.L22L NA NA 16p11.2 NA NA NA NA rs151233 0.09 0.09 0.084 0.155751 0.1342 0.0079 0.1095 0.112 0.4223 0.12 0.01 0.12 0.11 0.2422 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.154699 NA NA 0.136696 0.108329 NA 0.116 NA 5.1535706 1145 1 68151980 68151980 T G intronic GADD45A NA NA NA intronic ENSG00000116717 NA NA NA NA NA 1p31.3 NA Name=ZBTB7A_(SC-34508),HA-E2F1 Name=147 NA rs2759219 0.74 0.74 0.715 0.748003 0.8469 0.6121 0.8069 0.6778 0.8395 0.85 0.6 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 1.646196 1.646196 NA NA NA NA 0.761 NA 5.1531 1145 11 65733393 65733393 C T exonic SART1 NA synonymous SNV SART1:NM_005146:exon7:c.C774T:p.T258T exonic ENSG00000175467 NA synonymous SNV ENSG00000175467:ENST00000312397:exon7:c.C774T:p.T258T NA NA 11q13.1 Score=764;Name=V$PAX5_02 NA NA NA rs688862 0.36 0.36 0.345 0.376398 0.5278 0.2183 0.3228 0.2716 0.5634 0.53 0.17 0.38 0.29 0.4671 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281642 NA NA 0.51932 0.309405 ID=COSM429623;OCCURENCE=1(breast) 0.326 NA 5.1524466 1145 9 111936788 111936788 C T UTR3 EPB41L4B NM_019114:c.*46G>A NA NA UTR3 ENSG00000095203 ENST00000374566:c.*46G>A NA NA NA NA 9q31.3 NA NA NA NA rs10979727 0.34 0.34 0.342 0.33147 0.4254 0.1647 0.268 0.5113 0.2086 0.41 0.15 0.3 0.46 0.3493 0.46 0.71 T . . . . 0.043 N 0.004 P . . . . -0.953 T 0.000 T . 1.221 9.956 -2.75 -0.413 0.780 3.792 1.221382 NA 0.67 0.406325 0.46058 NA 0.341 NA 5.1523084 1145 10 103922063 103922063 G C UTR3 NOLC1 NM_004741:c.*37G>C NA NA UTR3 ENSG00000166197 ENST00000405356:c.*37G>C,ENST00000605788:c.*37G>C,ENST00000603742:c.*37G>C,ENST00000464969:c.*1757G>C,ENST00000603946:c.*1509G>C,ENST00000488254:c.*37G>C,ENST00000370007:c.*37G>C NA NA NA NA 10q24.32 Score=791;Name=V$MEF2_01 NA NA NA rs1049466 0.06 0.06 0.068 0.0567093 0.0646 NA 0.0519 0.1278 0.0143 0.08 NA 0.06 0.12 0.0578 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 -0.759323 NA NA 0.05907 0.105992 NA 0.101 NA 5.1518634 1145 17 7127718 7127718 T C intronic ACADVL NA NA NA intronic ENSG00000072778 NA NA NA NA NA 17p13.1 NA Name=Pol2 Name=11 NA rs17671352 0.52 0.52 0.497 0.519768 0.6223 0.4752 0.4971 0.41 0.6247 0.6 0.47 0.56 0.43 0.6 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040434 NA NA 0.626076 0.436223 NA 0.558 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000077908.1|RCV000123479.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.151624 1145 5 10256161 10256161 T C exonic CCT5 NA synonymous SNV CCT5:NM_012073:exon4:c.T426C:p.R142R exonic ENSG00000150753 NA synonymous SNV ENSG00000150753:ENST00000506600:exon3:c.T147C:p.R49R,ENSG00000150753:ENST00000515390:exon3:c.T261C:p.R87R,ENSG00000150753:ENST00000280326:exon4:c.T426C:p.R142R,ENSG00000150753:ENST00000503026:exon4:c.T363C:p.R121R,ENSG00000150753:ENST00000515676:exon4:c.T312C:p.R104R Score=527;Name=lod=185 NA 5p15.2 NA Name=Pol2(phosphoS2) NA NA rs1042392 0.76 0.76 0.724 0.692492 0.8579 0.8839 0.7767 0.4039 0.6554 0.86 0.89 0.81 0.41 0.7948 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 1.692319 1.692319 NA 0.862442 0.463686 NA 0.652 NA 5.1515246 1145 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 1145 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 1145 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 1145 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 1145 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 1145 20 62227081 62227081 A G exonic GMEB2 NA synonymous SNV GMEB2:NM_012384:exon6:c.T501C:p.H167H exonic ENSG00000101216 NA synonymous SNV ENSG00000101216:ENST00000370069:exon4:c.T348C:p.H116H,ENSG00000101216:ENST00000266068:exon5:c.T501C:p.H167H,ENSG00000101216:ENST00000370077:exon6:c.T501C:p.H167H Score=610;Name=lod=403 NA 20q13.33 Score=965;Name=V$TCF11_01 NA NA NA rs311489 0.83 0.83 0.808 0.831869 0.829 0.998 0.8588 0.6551 0.8834 0.82 1 0.86 0.63 0.8459 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.239139 1.239139 NA 0.841977 0.708125 NA 0.841 NA 5.1497896 1145 3 10290839 10290839 G A intronic TATDN2 NA NA NA intronic ENSG00000157014 NA NA NA NA NA 3p25.3 NA Name=E2F6_(H-50),Ini1,ZNF263 Name=39 NA rs2072577 0.22 0.22 0.217 0.210663 0.3241 0.2113 0.1816 0.1051 0.2566 0.31 0.21 0.21 0.12 0.2473 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.246976 2.246976 NA 0.279457 0.114979 NA 0.355 NA 5.149143 1145 18 11752943 11752943 C A intronic GNAL NA NA NA intronic ENSG00000141404 NA NA NA NA NA 18p11.21 NA Name=GR Name=67 NA rs1895689 0.33 0.33 0.347 0.348043 0.2664 0.3284 0.1614 0.5318 0.3364 0.26 0.34 0.17 0.56 0.2968 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.394256 2.394256 NA 0.287791 0.475261 NA 0.319 NA 5.149009 1145 20 62221610 62221610 T C exonic GMEB2 NA synonymous SNV GMEB2:NM_012384:exon10:c.A1425G:p.L475L exonic ENSG00000101216 NA synonymous SNV ENSG00000101216:ENST00000370069:exon8:c.A1272G:p.L424L,ENSG00000101216:ENST00000266068:exon9:c.A1425G:p.L475L,ENSG00000101216:ENST00000370077:exon10:c.A1425G:p.L475L Score=420;Name=lod=68 NA 20q13.33 Score=909;Name=V$E47_02 NA NA NA rs311496 0.83 0.83 0.82 0.832867 0.829 0.998 0.8588 0.6589 0.8834 0.82 1 0.86 0.63 0.8472 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.101769 NA NA 0.842289 0.710168 ID=COSM1413158;OCCURENCE=1(large_intestine) 0.841 NA 5.1481776 1145 15 51868373 51868373 A G exonic DMXL2 NA synonymous SNV DMXL2:NM_001174116:exon2:c.T93C:p.Y31Y,DMXL2:NM_001174117:exon2:c.T93C:p.Y31Y,DMXL2:NM_015263:exon2:c.T93C:p.Y31Y exonic ENSG00000104093 NA synonymous SNV ENSG00000104093:ENST00000251076:exon2:c.T93C:p.Y31Y,ENSG00000104093:ENST00000449909:exon2:c.T93C:p.Y31Y,ENSG00000104093:ENST00000543779:exon2:c.T93C:p.Y31Y Score=461;Name=lod=100 NA 15q21.2 NA NA NA NA rs2414105 0.49 0.49 0.444 0.449281 0.5149 0.4018 0.4942 0.4463 0.4029 0.52 0.45 0.48 0.49 0.4987 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365081 NA NA 0.505008 0.469021 NA 0.37 NA 5.1480586 1145 5 53606295 53606295 T C exonic ARL15 NA synonymous SNV ARL15:NM_019087:exon1:c.A15G:p.R5R exonic ENSG00000185305 NA synonymous SNV ENSG00000185305:ENST00000504924:exon1:c.A15G:p.R5R,ENSG00000185305:ENST00000507646:exon1:c.A15G:p.R5R Score=620;Name=lod=443 NA 5q11.2 NA Name=ELF1_(SC-631),RFX5_(N-494),p300,Pol2,GATA-2,Pol2(b),GATA3_(SC-268),MafF_(M8194) NA NA rs35941 0.83 0.83 0.851 0.826478 0.8449 0.7192 0.7954 0.9365 0.7914 0.84 0.72 0.85 0.94 0.8298 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.871203 1.871203 NA 0.844022 0.932517 NA 0.862 NA 5.1479446 1145 10 50121784 50121784 T C exonic LRRC18 NA synonymous SNV LRRC18:NM_001006939:exon1:c.A417G:p.T139T exonic ENSG00000165383 NA synonymous SNV ENSG00000165383:ENST00000374160:exon1:c.A417G:p.T139T,ENSG00000165383:ENST00000298124:exon2:c.A417G:p.T139T NA NA 10q11.23 Score=1000;Name=V$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 1145 11 67401635 67401635 G C intronic TBX10 NA NA NA intronic ENSG00000167800 NA NA NA NA NA 11q13.2 NA Name=USF-1 Name=2 NA rs12787511 0.24 0.24 0.219 0.217053 0.3042 0.13 0.4236 0.1626 0.1442 0.3 0.11 0.39 0.18 0.2564 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050572 NA NA 0.292268 0.173409 NA 0.297 NA 5.147132 1145 X 77528317 77528317 G A exonic CYSLTR1 NA synonymous SNV CYSLTR1:NM_006639:exon3:c.C927T:p.F309F exonic ENSG00000173198 NA synonymous SNV ENSG00000173198:ENST00000373304:exon3:c.C927T:p.F309F Score=617;Name=lod=429 NA Xq21.1 NA NA NA NA rs320995 0.67 0.67 0.66693 NA NA NA NA NA NA 0.78 0.6 0.67 0.59 0.7314 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 -1.05636 NA NA 0.788136 0.655712 NA 0.486 NA 5.1471306 1145 19 16631147 16631147 G A UTR3 C19orf44 NM_032207:c.*283G>A NA NA UTR3 ENSG00000105072 ENST00000221671:c.*283G>A,ENST00000593380:c.*347G>A,ENST00000601109:c.*324G>A NA NA NA NA 19p13.11 NA Name=Pol2 NA NA rs74909346 0.05 0.05 0.035 0.0457268 0.0696 0.0248 0.0303 0.0272 0.0787 0.07 0.03 0.03 0.04 0.0554 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 0.235693 NA NA 0.061378 0.027246 NA 0.022 NA 5.1469554 1145 11 130784754 130784754 C G exonic SNX19 NA nonsynonymous SNV SNX19:NM_014758:exon1:c.G1081C:p.V361L exonic ENSG00000120451 NA nonsynonymous SNV ENSG00000120451:ENST00000265909:exon1:c.G1081C:p.V361L,ENSG00000120451:ENST00000533214:exon1:c.G1081C:p.V361L NA NA 11q24.3 NA NA NA NA rs3751037 0.69 0.69 0.673 0.730431 0.7167 0.6796 0.7421 0.6831 0.8528 0.72 0.68 0.72 0.65 0.7443 0.74 0.46 T 0.0 B 0.0 B 0.692 N 1.000 P 0 N 2.4 T -0.996 T 0.000 T 0.03 -1.069 0.174 -0.511 -0.275 -0.092 1.135 -1.068771 NA 0.42 0.725506 0.684462 NA 0.616 NA 5.1468274 1145 8 22960704 22960704 G C ncRNA_exonic LOC254896 NA NA NA exonic ENSG00000173535 NA nonsynonymous SNV ENSG00000173535:ENST00000397703:exon4:c.G190C:p.G64R NA NA 8p21.3 NA NA NA NA rs6557616 0.81 0.81 0.806 0.844649 0.7684 0.8006 0.8588 0.8971 0.8875 0.76 0.83 0.83 0.87 0.8094 0.88 0.86 T . . . . . . 1.000 P . . . . -0.987 T 0.000 T 0.062 -0.064 3.688 -0.555 -0.540 -1.505 2.627 -0.064107 NA 0.82 0.775465 0.875851 NA 0.841 NA 5.146735 1145 3 49690199 49690199 G A exonic BSN NA synonymous SNV BSN:NM_003458:exon5:c.G3210A:p.T1070T exonic ENSG00000164061 NA synonymous SNV ENSG00000164061:ENST00000296452:exon5:c.G3210A:p.T1070T NA NA 3p21.31 Score=738;Name=V$PAX4_04 Name=ZNF263 NA NA rs4855885 0.9 0.9 0.895 0.913538 0.834 0.9871 0.8847 0.8964 0.9632 0.84 1 0.88 0.9 0.8683 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.837338 NA NA 0.817674 0.880617 NA 0.899 NA 5.1466926 1145 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 1145 1 240256822 240256822 C A exonic FMN2 NA synonymous SNV FMN2:NM_020066:exon1:c.C1413A:p.A471A exonic ENSG00000155816 NA synonymous SNV ENSG00000155816:ENST00000319653:exon1:c.C1413A:p.A471A NA NA 1q43 NA NA Name=13 NA rs10926124 0.35 0.35 0.385 0.329872 0.5249 0.3006 0.3357 0.09 0.4796 0.52 0.31 0.37 0.12 0.4777 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.181245 NA NA 0.517527 0.163479 NA 0.203 NA 5.1465396 1145 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 1145 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 1145 8 68968166 68968166 C A exonic PREX2 NA synonymous SNV PREX2:NM_024870:exon10:c.C1195A:p.R399R,PREX2:NM_025170:exon10:c.C1195A:p.R399R exonic ENSG00000046889 NA synonymous SNV ENSG00000046889:ENST00000288368:exon10:c.C1195A:p.R399R Score=680;Name=lod=773 NA 8q13.2 NA NA NA NA rs1434774 0.53 0.53 0.548 0.561701 0.5239 0.2688 0.4755 0.8865 0.5245 0.53 0.28 0.48 0.86 0.5066 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 1.306461 1.306461 NA 0.49 0.822742 NA 0.623 NA 5.1461666 1145 1 175054548 175054548 C T exonic TNN NA synonymous SNV TNN:NM_022093:exon6:c.C1242T:p.H414H exonic ENSG00000120332 NA synonymous SNV ENSG00000120332:ENST00000239462:exon6:c.C1242T:p.H414H Score=423;Name=lod=70 NA 1q25.1 NA NA NA NA rs1573758 0.52 0.52 0.507 0.541134 0.508 0.3829 0.5072 0.7496 0.4806 0.5 0.37 0.51 0.73 0.5108 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 -0.407438 NA NA 0.50186 0.681571 NA 0.681 NA 5.1460066 1145 16 84520325 84520325 T C exonic TLDC1 NA synonymous SNV TLDC1:NM_020947:exon5:c.A870G:p.G290G exonic ENSG00000140950 NA synonymous SNV ENSG00000140950:ENST00000343629:exon5:c.A870G:p.G290G,ENSG00000140950:ENST00000535580:exon6:c.A789G:p.G263G Score=361;Name=lod=39 NA 16q24.1 NA NA NA NA rs431389 0.6 0.6 0.539 0.636182 0.4821 0.8978 0.6643 0.4281 0.7863 0.5 0.9 0.6 0.4 0.5681 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 -0.155127 NA NA 0.470698 0.451591 NA 0.522 NA 5.1457686 1145 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 1145 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 1145 14 22392845 22392845 C T intergenic OR4E2,DAD1 dist=258607;dist=640962 NA NA downstream ENSG00000211792 NA NA NA NA NA 14q11.2 NA Name=CTCF,EBF1_(C-8),CTCF_(SC-5916) Name=21 NA rs17112255 0.09 0.09 0.088 0.096246 0.1213 0.0288 0.0605 0.118 0.136 0.13 0.03 0.05 0.11 0.1106 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167283 NA NA 0.122532 0.118454 NA 0.058 NA 5.145568 1145 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 1145 3 56763525 56763525 A G exonic ARHGEF3 NA synonymous SNV ARHGEF3:NM_001128616:exon10:c.T1372C:p.L458L,ARHGEF3:NM_019555:exon10:c.T1354C:p.L452L,ARHGEF3:NM_001128615:exon13:c.T1450C:p.L484L exonic ENSG00000163947 NA synonymous SNV ENSG00000163947:ENST00000296315:exon10:c.T1354C:p.L452L,ENSG00000163947:ENST00000413728:exon10:c.T1372C:p.L458L,ENSG00000163947:ENST00000497267:exon10:c.T1267C:p.L423L,ENSG00000163947:ENST00000496106:exon11:c.T1372C:p.L458L,ENSG00000163947:ENST00000338458:exon13:c.T1450C:p.L484L NA NA 3p14.3 NA NA NA NA rs1009118 0.23 0.23 0.206 0.266973 0.165 0.3442 0.1124 0.2458 0.4305 0.16 0.34 0.13 0.28 0.203 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044956 NA NA 0.153605 0.245801 NA 0.159 NA 5.1450616 1146 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 1146 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 1146 3 126202257 126202257 G A exonic UROC1 NA synonymous SNV UROC1:NM_144639:exon19:c.C1845T:p.A615A,UROC1:NM_001165974:exon20:c.C2025T:p.A675A exonic ENSG00000159650 NA synonymous SNV ENSG00000159650:ENST00000290868:exon19:c.C1845T:p.A615A,ENSG00000159650:ENST00000383579:exon20:c.C2025T:p.A675A NA NA 3q21.3 NA NA NA NA rs1687477 0.44 0.44 0.401 0.409145 0.5239 0.4901 0.4697 0.1853 0.4673 0.53 0.5 0.49 0.2 0.4724 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.075548 NA NA 0.526047 0.232637 ID=COSM1484555,COSM445508;OCCURENCE=2(breast) 0.42 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118813.2;CLNDSDB=.;CLNDSDBID=. 5.1443196 1146 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 1146 15 75977920 75977920 A G exonic CSPG4 NA synonymous SNV CSPG4:NM_001897:exon4:c.T3912C:p.P1304P exonic ENSG00000173546 NA synonymous SNV ENSG00000173546:ENST00000308508:exon4:c.T3912C:p.P1304P Score=504;Name=lod=149 NA 15q24.2 NA NA NA NA rs1127643 0.38 0.38 0.315 0.394369 0.5209 0.2728 0.5303 0.2723 0.4581 0.51 0.24 0.5 0.27 0.4891 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.268333 1.268333 NA 0.513424 0.269565 ID=COSM434326;OCCURENCE=1(breast) 0.42 NA 5.1432426 1146 22 37678551 37678551 A G UTR5 CYTH4 NM_013385:c.-60A>G NA NA UTR5 ENSG00000100055 ENST00000457992:c.-60A>G,ENST00000248901:c.-60A>G,ENST00000402997:c.-60A>G,ENST00000405206:c.-60A>G NA NA NA NA 22q13.1 Score=788;Name=V$HEN1_01 Name=Pol2,Pol2-4H8,ELF1_(SC-631),STAT3,PU.1,ZBTB7A_(SC-34508) Name=41 NA rs3213556 0.68 0.68 0.672 0.691893 0.7425 0.506 0.4899 0.913 0.6759 0.74 0.5 0.54 0.88 0.6962 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 1.845538 1.845538 NA 0.751728 0.882225 NA 0.616 NA 5.1429054 1146 7 73151644 73151644 A G exonic ABHD11 NA synonymous SNV ABHD11:NM_148912:exon4:c.T540C:p.Y180Y,ABHD11:NM_148913:exon4:c.T519C:p.Y173Y exonic ENSG00000106077 NA synonymous SNV ENSG00000106077:ENST00000222800:exon4:c.T540C:p.Y180Y,ENSG00000106077:ENST00000437775:exon4:c.T519C:p.Y173Y Score=397;Name=lod=55 NA 7q11.23 NA NA NA NA rs6460052 0.58 0.58 0.62 0.604633 0.4891 0.5218 0.5389 0.8298 0.5511 0.48 0.53 0.57 0.82 0.5435 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 0.369692 NA NA 0.49186 0.768044 NA 0.645 NA 5.1422066 1146 X 118604436 118604436 T C exonic SLC25A5 NA synonymous SNV SLC25A5:NM_001152:exon3:c.T699C:p.T233T exonic ENSG00000005022 NA synonymous SNV ENSG00000005022:ENST00000317881:exon3:c.T699C:p.T233T NA NA Xq24 NA Name=CTCF_(SC-5916) NA NA rs12390 0.78 0.78 NA NA NA NA NA NA NA 0.74 0.65 0.78 0.98 0.768 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 -0.279944 NA NA 0.756986 0.955671 ID=COSM1465208;OCCURENCE=1(large_intestine) 0.696 NA 5.1416806 1146 17 15903602 15903602 C A UTR5 TTC19 NM_001271420:c.-1636C>A NA NA exonic ENSG00000011295 NA unknown UNKNOWN NA NA 17p12 NA Name=HA-E2F1,TAF1,Pol2-4H8 Name=58 NA rs758853 0.33 0.33 0.291 0.313698 0.5298 0.1538 0.4294 0.1815 0.3528 0.52 0.14 0.43 0.18 0.4755 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.691806 NA NA 0.519905 0.229462 NA 0.312 NA 5.1414617 1146 22 40814594 40814594 C T exonic MKL1 NA synonymous SNV MKL1:NM_020831:exon12:c.G1848A:p.P616P exonic ENSG00000196588 NA synonymous SNV ENSG00000196588:ENST00000407029:exon9:c.G1848A:p.P616P,ENSG00000196588:ENST00000402042:exon11:c.G1698A:p.P566P,ENSG00000196588:ENST00000355630:exon12:c.G1848A:p.P616P,ENSG00000196588:ENST00000396617:exon12:c.G1848A:p.P616P NA NA 22q13.1 NA NA NA NA rs56211152 0.17 0.17 0.194 0.209665 0.1581 0.0694 0.1599 0.3147 0.3006 0.16 0.06 0.17 0.3 0.1973 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335061 NA NA 0.169871 0.310488 NA 0.138 NA 5.1413956 1146 5 176836532 176836532 A G UTR5 F12 NM_000505:c.-4T>C NA NA UTR5 ENSG00000131187 ENST00000253496:c.-4T>C NA NA Score=422;Name=lod=69 NA 5q35.3 NA Name=HNF4A_(H-171),CEBPB,SP1,HNF4G_(SC-6558),HNF4A,HDAC2_(SC-6296),p300 NA NA rs1801020 0.58 0.58 0.593 0.527556 0.7753 0.2371 0.6556 0.5477 0.454 0.77 0.27 0.7 0.56 0.6546 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 1.290833 1.290833 NA 0.762558 0.55833 NA 0.594 CLINSIG=non-pathogenic;CLNDBN=FACTOR_XII_POLYMORPHISM;CLNREVSTAT=single;CLNACC=RCV000001226.2;CLNDSDB=.;CLNDSDBID=. 5.1408754 1146 13 46705068 46705068 C A exonic LCP1 NA synonymous SNV LCP1:NM_002298:exon15:c.G1632T:p.P544P exonic ENSG00000136167 NA synonymous SNV ENSG00000136167:ENST00000435666:exon4:c.G339T:p.P113P,ENSG00000136167:ENST00000323076:exon15:c.G1632T:p.P544P,ENSG00000136167:ENST00000398576:exon18:c.G1632T:p.P544P NA NA 13q14.13 NA NA NA NA rs11558762 0.09 0.09 0.075 0.0636981 0.173 0.0268 0.0951 0.0098 0.0399 0.18 0.04 0.11 0.01 0.1492 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.166108 NA NA 0.203721 0.044031 NA 0.094 NA 5.1407456 1146 1 86591837 86591837 G A exonic COL24A1 NA nonsynonymous SNV COL24A1:NM_152890:exon3:c.C182T:p.A61V exonic ENSG00000171502 NA nonsynonymous SNV ENSG00000171502:ENST00000370571:exon3:c.C182T:p.A61V,ENSG00000171502:ENST00000426639:exon3:c.C182T:p.A61V,ENSG00000171502:ENST00000436319:exon3:c.C182T:p.A61V,ENSG00000171502:ENST00000496682:exon4:c.C182T:p.A61V NA NA 1p22.3 NA NA NA NA rs11161747 0.66 0.66 0.646 0.645168 0.7425 0.622 0.7176 0.5401 0.6595 0.73 0.62 0.69 0.56 0.7053 0.74 0.45 T 0.0 B 0.0 B 0.285 N 1.000 P 0 N 1.31 T -1.011 T 0.185 T 0.149 0.936 8.813 0.032 0.080 0.311 0.961 0.935642 NA 1 0.744957 0.601891 NA 0.464 NA 5.1405764 1146 17 48046775 48046775 G A UTR5 DLX4 NM_138281:c.-58G>A NA NA UTR5 ENSG00000108813 ENST00000240306:c.-58G>A,ENST00000505318:c.-58G>A NA NA Score=259;Name=lod=15 NA 17q21.33 NA NA NA NA rs58769681 0.2 0.2 0.219 0.194688 0.1928 0.2381 0.1311 0.1793 0.2178 0.2 0.25 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 1.225223 NA NA NA NA NA 0.239 NA 5.1405334 1146 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 1146 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 1146 2 85777270 85777270 G A intronic GGCX NA NA NA intronic ENSG00000115486 NA NA NA NA NA 2p11.2 NA Name=c-Fos,GATA-2 Name=102 NA rs2028898 0.33 0.33 0.337 0.286142 0.3121 0.3095 0.2219 0.3903 0.1401 0.32 0.33 0.25 0.39 0.2696 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.164346 NA NA 0.27814 0.351112 ID=COSN166153;OCCURENCE=1(NS) 0.312 NA 5.14016 1146 8 11414237 11414237 T C exonic BLK NA synonymous SNV BLK:NM_001715:exon9:c.T843C:p.F281F exonic ENSG00000136573 NA synonymous SNV ENSG00000136573:ENST00000529894:exon8:c.T630C:p.F210F,ENSG00000136573:ENST00000259089:exon9:c.T843C:p.F281F Score=431;Name=lod=75 NA 8p23.1 NA NA NA NA rs2306234 0.86 0.86 0.852 0.827676 0.8489 0.9474 0.8991 0.7247 0.771 0.85 0.95 0.88 0.75 0.8317 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 -0.219697 NA NA 0.84593 0.747163 NA 0.797 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116500.2;CLNDSDB=.;CLNDSDBID=. 5.1401366 1146 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 1146 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 1146 1 206647787 206647787 T C exonic IKBKE NA synonymous SNV IKBKE:NM_001193322:exon4:c.T201C:p.I67I,IKBKE:NM_014002:exon4:c.T201C:p.I67I exonic ENSG00000143466 NA synonymous SNV ENSG00000143466:ENST00000367120:exon4:c.T201C:p.I67I Score=607;Name=lod=391 NA 1q32.1 Score=844;Name=V$GR_Q6 NA NA NA rs1539243 0.89 0.89 0.882 0.899161 0.835 0.9732 0.9207 0.8797 0.8998 0.83 0.98 0.91 0.87 0.8591 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 0.553327 NA NA 0.833605 0.86995 NA 0.906 NA 5.1389616 1146 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 1146 14 94933709 94933709 C T exonic SERPINA9 NA synonymous SNV SERPINA9:NM_175739:exon3:c.G693A:p.E231E,SERPINA9:NM_001042518:exon4:c.G393A:p.E131E exonic ENSG00000170054 NA synonymous SNV ENSG00000170054:ENST00000337425:exon3:c.G693A:p.E231E,ENSG00000170054:ENST00000380365:exon3:c.G639A:p.E213E,ENSG00000170054:ENST00000448305:exon3:c.G399A:p.E133E,ENSG00000170054:ENST00000546329:exon3:c.G585A:p.E195E,ENSG00000170054:ENST00000298845:exon4:c.G393A:p.E131E,ENSG00000170054:ENST00000424550:exon4:c.G246A:p.E82E Score=436;Name=lod=79 NA 14q32.13 NA NA NA NA rs6575433 0.35 0.35 0.316 0.346645 0.5427 0.1825 0.3588 0.2126 0.4867 0.54 0.18 0.4 0.24 0.462 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41222 NA NA 0.523602 0.261579 NA 0.42 NA 5.1383646 1146 2 11053020 11053020 A G exonic KCNF1 NA synonymous SNV KCNF1:NM_002236:exon1:c.A468G:p.A156A exonic ENSG00000162975 NA synonymous SNV ENSG00000162975:ENST00000295082:exon1:c.A468G:p.A156A Score=600;Name=lod=366 NA 2p25.1 NA NA Name=7 NA rs3732104 0.9 0.9 0.902 0.892971 0.837 0.9653 0.8314 0.9788 0.8037 0.84 0.97 0.83 0.98 0.8534 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 1.225636 NA NA 0.837961 0.948182 ID=COSM440976;OCCURENCE=1(breast) 0.652 NA 5.1383056 1146 9 115931692 115931692 A G exonic FKBP15 NA synonymous SNV FKBP15:NM_015258:exon26:c.T3297C:p.T1099T exonic ENSG00000119321 NA synonymous SNV ENSG00000119321:ENST00000238256:exon26:c.T3297C:p.T1099T,ENSG00000119321:ENST00000446284:exon26:c.T3372C:p.T1124T NA NA 9q32 NA NA NA NA rs3810909 0.2 0.2 0.187 0.192492 0.167 0.1925 0.2767 0.2133 0.1309 0.16 0.17 0.28 0.24 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 -0.849314 NA NA 0.182192 0.214987 ID=COSM150678;OCCURENCE=1(stomach) 0.225 NA 5.1378746 1146 18 77473086 77473086 G A exonic CTDP1 NA synonymous SNV CTDP1:NM_001202504:exon7:c.G621A:p.T207T,CTDP1:NM_004715:exon7:c.G978A:p.T326T,CTDP1:NM_048368:exon7:c.G978A:p.T326T exonic ENSG00000060069 NA synonymous SNV ENSG00000060069:ENST00000075430:exon7:c.G978A:p.T326T,ENSG00000060069:ENST00000299543:exon7:c.G978A:p.T326T,ENSG00000060069:ENST00000591598:exon7:c.G774A:p.T258T NA NA 18q23 NA NA NA NA rs599554 0.2 0.2 0.208 0.208866 0.175 0.1389 0.2205 0.3147 0.1646 0.17 0.13 0.25 0.32 0.1837 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.104157 NA NA 0.170156 0.288697 NA 0.203 NA 5.1378106 1146 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 1146 1 52290984 52290984 T G exonic NRD1 NA synonymous SNV NRD1:NM_001101662:exon6:c.A1011C:p.G337G,NRD1:NM_001242361:exon8:c.A819C:p.G273G,NRD1:NM_002525:exon8:c.A1215C:p.G405G exonic ENSG00000078618 NA synonymous SNV ENSG00000078618:ENST00000352171:exon6:c.A1011C:p.G337G,ENSG00000078618:ENST00000544028:exon6:c.A615C:p.G205G,ENSG00000078618:ENST00000354831:exon8:c.A1215C:p.G405G,ENSG00000078618:ENST00000539524:exon8:c.A819C:p.G273G Score=663;Name=lod=660 NA 1p32.3 NA NA NA NA rs11205896 0.54 0.54 0.51 0.498403 0.5239 0.8313 0.6009 0.2496 0.3926 0.51 0.82 0.57 0.26 0.5039 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 1.224998 NA NA 0.501279 0.291875 NA 0.609 NA 5.1375876 1146 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 1146 10 70105560 70105560 G A exonic RUFY2 NA synonymous SNV RUFY2:NM_017987:exon18:c.C1891T:p.L631L exonic ENSG00000204130 NA synonymous SNV ENSG00000204130:ENST00000265865:exon6:c.C556T:p.L186L,ENSG00000204130:ENST00000388768:exon18:c.C1891T:p.L631L,ENSG00000204130:ENST00000602465:exon18:c.C1786T:p.L596L NA NA 10q21.3 Score=862;Name=V$CHOP_01 Name=Pol2-4H8 NA NA rs1162753 0.83 0.83 0.845 0.803115 0.8618 0.872 0.7536 0.7965 0.7157 0.86 0.85 0.83 0.77 0.8158 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 0.411265 NA NA 0.852637 0.80676 NA 0.804 NA 5.1364296 1146 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 1146 1 119923724 119923724 T C exonic HAO2 NA synonymous SNV HAO2:NM_016527:exon2:c.T16C:p.L6L,HAO2:NM_001005783:exon3:c.T16C:p.L6L exonic ENSG00000116882 NA synonymous SNV ENSG00000116882:ENST00000325945:exon2:c.T16C:p.L6L,ENSG00000116882:ENST00000457318:exon2:c.T16C:p.L6L,ENSG00000116882:ENST00000361035:exon3:c.T55C:p.L19L Score=462;Name=lod=101 NA 1p12 NA NA NA NA rs2275607 0.41 0.41 0.366 0.358227 0.5298 0.4504 0.5216 0.0817 0.3446 0.53 0.45 0.5 0.12 0.4834 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.692814 NA NA 0.517093 0.185202 NA 0.442 NA 5.1363736 1146 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 1146 19 40901604 40901604 A G exonic PRX NA synonymous SNV PRX:NM_181882:exon7:c.T2655C:p.P885P exonic ENSG00000105227 NA synonymous SNV ENSG00000105227:ENST00000324001:exon7:c.T2655C:p.P885P NA NA 19q13.2 NA NA NA NA rs268672 0.5 0.5 0.472 0.531949 0.506 0.2401 0.4784 0.8427 0.4775 0.49 0.22 0.53 0.79 0.507 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 -1.41912 NA NA 0.517558 0.787789 NA 0.507 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118076.2;CLNDSDB=.;CLNDSDBID=. 5.1361086 1146 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 1146 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 1146 6 35050506 35050506 G A exonic ANKS1A NA synonymous SNV ANKS1A:NM_015245:exon18:c.G2748A:p.P916P exonic ENSG00000064999 NA synonymous SNV ENSG00000064999:ENST00000360359:exon18:c.G2748A:p.P916P NA NA 6p21.31 NA Name=ERalpha_a Name=8 NA rs2177382 0.85 0.85 0.845 0.844249 0.841 0.877 0.8718 0.7572 0.9121 0.85 0.87 0.86 0.81 0.8571 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 1.032382 NA NA 0.832907 0.782115 NA 0.746 NA 5.1356596 1146 12 53217701 53217701 C A exonic KRT79 NA synonymous SNV KRT79:NM_175834:exon6:c.G1116T:p.L372L exonic ENSG00000185640 NA synonymous SNV ENSG00000185640:ENST00000330553:exon6:c.G1116T:p.L372L Score=497;Name=lod=140 NA 12q13.13 NA NA NA NA rs10876354 0.47 0.47 0.43 0.480631 0.5099 0.5099 0.5562 0.2557 0.6708 0.51 0.53 0.57 0.28 0.5092 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.778518 NA NA 0.511977 0.309124 NA 0.442 NA 5.1355896 1146 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 1146 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 1147 3 151154666 151154666 T C exonic IGSF10 NA synonymous SNV IGSF10:NM_001178145:exon2:c.A1764G:p.T588T,IGSF10:NM_001178146:exon2:c.A1620G:p.T540T,IGSF10:NM_178822:exon6:c.A7683G:p.T2561T exonic ENSG00000152580 NA synonymous SNV ENSG00000152580:ENST00000282466:exon6:c.A7683G:p.T2561T Score=498;Name=lod=141 NA 3q25.1 NA NA Name=10 NA rs2172250 0.86 0.86 0.863 0.851438 0.8539 0.8988 0.8285 0.8563 0.8098 0.85 0.88 0.85 0.86 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 -1.172758 NA NA 0.847442 0.84453 NA 0.826 NA 5.1341246 1147 8 22262418 22262418 A G exonic SLC39A14 NA synonymous SNV SLC39A14:NM_001128431:exon2:c.A195G:p.L65L,SLC39A14:NM_001135153:exon2:c.A195G:p.L65L,SLC39A14:NM_001135154:exon2:c.A195G:p.L65L,SLC39A14:NM_015359:exon2:c.A195G:p.L65L exonic ENSG00000104635 NA synonymous SNV ENSG00000104635:ENST00000517552:exon1:c.A195G:p.L65L,ENSG00000104635:ENST00000240095:exon2:c.A195G:p.L65L,ENSG00000104635:ENST00000289952:exon2:c.A195G:p.L65L,ENSG00000104635:ENST00000359741:exon2:c.A195G:p.L65L,ENSG00000104635:ENST00000381237:exon2:c.A195G:p.L65L,ENSG00000104635:ENST00000519960:exon2:c.A195G:p.L65L,ENSG00000104635:ENST00000520644:exon2:c.A195G:p.L65L,ENSG00000104635:ENST00000522881:exon2:c.A195G:p.L65L,ENSG00000104635:ENST00000524285:exon3:c.A195G:p.L65L Score=493;Name=lod=134 NA 8p21.3 NA NA NA NA rs2293144 0.66 0.66 0.646 0.67472 0.505 0.7798 0.5576 0.8298 0.6145 0.51 0.78 0.59 0.8 0.5533 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 0.018681 NA NA 0.474302 0.768724 NA 0.551 NA 5.1340646 1147 8 143747271 143747271 C G exonic JRK NA synonymous SNV JRK:NM_001077527:exon2:c.G207C:p.S69S,JRK:NM_003724:exon2:c.G207C:p.S69S ncRNA_exonic ENSG00000234616 NA NA NA Score=284;Name=lod=19 NA 8q24.3 NA NA NA NA rs2978973 0.36 0.36 0.386 0.396366 0.3459 0.4821 0.2781 0.3268 0.5378 0.33 0.47 0.3 0.32 0.3594 0.47 NA NA 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 0.327501 0.306989 NA 0.268 NA 5.1338656 1147 16 15818141 15818141 A C exonic MYH11 NA synonymous SNV MYH11:NM_002474:exon31:c.T4242G:p.A1414A,MYH11:NM_022844:exon31:c.T4242G:p.A1414A,MYH11:NM_001040113:exon32:c.T4263G:p.A1421A,MYH11:NM_001040114:exon32:c.T4263G:p.A1421A exonic ENSG00000133392 NA synonymous SNV ENSG00000133392:ENST00000300036:exon31:c.T4242G:p.A1414A,ENSG00000133392:ENST00000338282:exon31:c.T4242G:p.A1414A,ENSG00000133392:ENST00000576790:exon31:c.T4242G:p.A1414A,ENSG00000133392:ENST00000396324:exon32:c.T4263G:p.A1421A,ENSG00000133392:ENST00000452625:exon32:c.T4263G:p.A1421A Score=606;Name=lod=386 NA 16p13.11 NA NA NA NA rs2075511 0.38 0.38 0.34 0.410144 0.496 0.3155 0.5317 0.2564 0.5409 0.49 0.28 0.52 0.21 0.5009 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.278427 1.278427 NA 0.536047 0.308147 NA 0.442 NA 5.1337196 1147 5 180472498 180472498 C T exonic BTNL9 NA synonymous SNV BTNL9:NM_152547:exon2:c.C9T:p.D3D exonic ENSG00000165810 NA synonymous SNV ENSG00000165810:ENST00000327705:exon2:c.C9T:p.D3D,ENSG00000165810:ENST00000376841:exon2:c.C9T:p.D3D,ENSG00000165810:ENST00000376842:exon2:c.C9T:p.D3D,ENSG00000165810:ENST00000491209:exon2:c.C9T:p.D3D NA NA 5q35.3 NA Name=ZNF263,CTCF NA NA rs28677846 0.51 0.51 0.514 0.498203 0.5189 0.3909 0.5216 0.6422 0.3763 0.52 0.41 0.51 0.61 0.4911 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.436295 NA NA 0.523145 0.616712 NA 0.493 NA 5.1335216 1147 2 216232556 216232556 C T intronic FN1 NA NA NA intronic ENSG00000115414 NA NA NA NA NA 2q35 NA Name=Pol2,c-Fos Name=89 NA rs7568287 0.17 0.17 0.163 0.129593 0.331 0.001 0.1974 0.0877 0.0634 0.34 0.0017 0.21 0.07 0.2219 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.152805 NA NA 0.313953 0.130277 NA 0.196 NA 5.133147 1147 4 100443784 100443784 C G exonic C4orf17 NA synonymous SNV C4orf17:NM_032149:exon3:c.C255G:p.S85S exonic ENSG00000138813 NA synonymous SNV ENSG00000138813:ENST00000326581:exon3:c.C255G:p.S85S,ENSG00000138813:ENST00000477187:exon3:c.C255G:p.S85S,ENSG00000138813:ENST00000514652:exon3:c.C255G:p.S85S NA NA 4q23 NA NA NA NA rs61732380 0.18 0.18 0 0.211062 0.2744 0.1161 0.1888 0.202 0.272 0.25 0.12 0.19 0.13 0.2375 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040449 NA NA 0.021628 0.020427 NA NA NA 5.1331386 1147 1 2938265 2938265 C T exonic ACTRT2 NA synonymous SNV ACTRT2:NM_080431:exon1:c.C15T:p.H5H exonic ENSG00000169717 NA synonymous SNV ENSG00000169717:ENST00000378404:exon1:c.C15T:p.H5H NA NA 1p36.32 NA NA NA NA rs4576609 0.25 0.25 0.22 0.201677 0.161 0.3978 0.2406 0.1324 0.1074 0.16 0.42 0.23 0.18 0.1941 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.166369 NA NA 0.178721 0.141625 NA 0.261 NA 5.1328456 1147 10 95458141 95458141 A G exonic FRA10AC1 NA synonymous SNV FRA10AC1:NM_145246:exon3:c.T90C:p.D30D exonic ENSG00000148690 NA synonymous SNV ENSG00000148690:ENST00000359204:exon3:c.T90C:p.D30D,ENSG00000148690:ENST00000371430:exon3:c.T90C:p.D30D,ENSG00000148690:ENST00000394100:exon3:c.T90C:p.D30D,ENSG00000148690:ENST00000536233:exon3:c.T90C:p.D30D Score=587;Name=lod=324 NA 10q23.33 NA NA NA NA rs11187597 0.4 0.4 0.378 0.360623 0.5447 0.3978 0.4539 0.0696 0.4601 0.56 0.41 0.45 0.1 0.4729 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.092954 NA NA 0.516279 0.142987 NA 0.362 NA 5.1327876 1147 1 2938697 2938697 T G exonic ACTRT2 NA synonymous SNV ACTRT2:NM_080431:exon1:c.T447G:p.S149S exonic ENSG00000169717 NA synonymous SNV ENSG00000169717:ENST00000378404:exon1:c.T447G:p.S149S NA NA 1p36.32 NA NA NA NA rs3795262 0.25 0.25 0.209 0.209065 0.163 0.3958 0.2435 0.1657 0.0982 0.16 0.41 0.23 0.22 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 -0.934625 NA NA 0.179302 0.167045 NA 0.268 NA 5.1320646 1147 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 1147 14 62213848 62213848 T C ncRNA_exonic HIF1A-AS2 NA NA NA ncRNA_UTR3 ENSG00000100644 NA NA NA Score=755;Name=lod=1557 NA 14q23.2 NA Name=MEF2A,MEF2C_(SC-13268) Name=13 NA rs2057482 0.79 0.79 0.762 0.757588 0.8579 0.8006 0.8429 0.6399 0.7086 0.86 0.8 0.82 0.63 0.8289 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 1.319396 1.319396 NA 0.84814 0.665229 NA 0.833 NA 5.1317266 1147 11 62766431 62766431 A T exonic SLC22A8 NA synonymous SNV SLC22A8:NM_001184736:exon4:c.T354A:p.T118T,SLC22A8:NM_001184732:exon5:c.T723A:p.T241T,SLC22A8:NM_001184733:exon5:c.T450A:p.T150T,SLC22A8:NM_004254:exon5:c.T723A:p.T241T exonic ENSG00000149452 NA synonymous SNV ENSG00000149452:ENST00000311438:exon4:c.T723A:p.T241T,ENSG00000149452:ENST00000535878:exon4:c.T354A:p.T118T,ENSG00000149452:ENST00000336232:exon5:c.T723A:p.T241T,ENSG00000149452:ENST00000430500:exon5:c.T723A:p.T241T,ENSG00000149452:ENST00000545207:exon5:c.T450A:p.T150T NA NA 11q12.3 NA NA NA NA rs2276299 0.19 0.19 0.162 0.186102 0.1809 0.2718 0.3516 0.0371 0.1871 0.19 0.27 0.28 0.03 0.1835 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5452 NA NA 0.170893 0.06179 NA 0.094 NA 5.1313736 1147 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 1147 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 1147 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 1147 5 180472513 180472513 A G exonic BTNL9 NA synonymous SNV BTNL9:NM_152547:exon2:c.A24G:p.P8P exonic ENSG00000165810 NA synonymous SNV ENSG00000165810:ENST00000327705:exon2:c.A24G:p.P8P,ENSG00000165810:ENST00000376841:exon2:c.A24G:p.P8P,ENSG00000165810:ENST00000376842:exon2:c.A24G:p.P8P,ENSG00000165810:ENST00000491209:exon2:c.A24G:p.P8P NA NA 5q35.3 NA Name=ZNF263,CTCF NA NA rs6894087 0.51 0.51 0.503 0.505192 0.5189 0.3919 0.5245 0.6596 0.3855 0.52 0.41 0.51 0.62 0.4941 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.916599 NA NA 0.523494 0.637148 NA 0.493 NA 5.1301726 1147 6 31129642 31129642 A C exonic TCF19 NA synonymous SNV TCF19:NM_001077511:exon3:c.A657C:p.P219P,TCF19:NM_007109:exon3:c.A657C:p.P219P exonic ENSG00000137310 NA synonymous SNV ENSG00000137310:ENST00000542218:exon1:c.A417C:p.P139P,ENSG00000137310:ENST00000376255:exon3:c.A657C:p.P219P,ENSG00000137310:ENST00000376257:exon3:c.A657C:p.P219P NA NA 6p21.33 NA NA Name=4 NA rs2073722 0.8 0.8 0.789 0.769169 0.7843 0.6766 0.8141 0.8691 0.682 0.81 0.66 0.85 0.92 0.7523 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 -0.990969 NA NA NA NA NA 0.775 NA 5.1300666 1147 9 136131472 136131472 A T exonic ABO NA unknown UNKNOWN ncRNA_exonic ENSG00000175164 NA NA NA Score=407;Name=lod=60 NA 9q34.2 NA NA NA NA rs8176740 0.27 0.27 0.252 0.26897 0.2207 0.2887 0.4308 0.2421 0.2198 0.22 0.28 0.37 0.25 0.2539 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.870861 NA 0.01 0.228672 0.220737 NA 0.188 NA 5.1300613 1147 1 245849000 245849000 C T exonic KIF26B NA synonymous SNV KIF26B:NM_018012:exon12:c.C2715T:p.P905P exonic ENSG00000162849 NA synonymous SNV ENSG00000162849:ENST00000366518:exon9:c.C1572T:p.P524P,ENSG00000162849:ENST00000407071:exon12:c.C2715T:p.P905P NA NA 1q44 NA NA NA NA rs61744485 0.11 0.11 0.091 0.081869 0.1889 0.0208 0.0965 0.0719 0.0378 0.2 0.02 0.11 0.08 0.1517 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.111265 NA NA 0.196524 0.09814 NA 0.094 NA 5.1295426 1147 9 8518143 8518143 T C exonic PTPRD NA synonymous SNV PTPRD:NM_001171025:exon8:c.A1218G:p.A406A,PTPRD:NM_001040712:exon9:c.A1239G:p.A413A,PTPRD:NM_130393:exon9:c.A1230G:p.A410A,PTPRD:NM_130391:exon10:c.A1248G:p.A416A,PTPRD:NM_130392:exon10:c.A1248G:p.A416A,PTPRD:NM_002839:exon21:c.A1248G:p.A416A exonic ENSG00000153707 NA synonymous SNV ENSG00000153707:ENST00000358503:exon7:c.A1209G:p.A403A,ENSG00000153707:ENST00000360074:exon7:c.A1209G:p.A403A,ENSG00000153707:ENST00000397606:exon8:c.A1218G:p.A406A,ENSG00000153707:ENST00000397617:exon8:c.A1218G:p.A406A,ENSG00000153707:ENST00000537002:exon8:c.A1239G:p.A413A,ENSG00000153707:ENST00000397611:exon9:c.A1239G:p.A413A,ENSG00000153707:ENST00000355233:exon10:c.A1248G:p.A416A,ENSG00000153707:ENST00000356435:exon10:c.A1248G:p.A416A,ENSG00000153707:ENST00000486161:exon10:c.A1248G:p.A416A,ENSG00000153707:ENST00000540109:exon10:c.A1248G:p.A416A,ENSG00000153707:ENST00000381196:exon18:c.A1248G:p.A416A NA NA 9p24.1 NA NA NA NA rs7026388 0.3 0.3 0.278 0.307308 0.164 0.3919 0.2695 0.4418 0.2127 0.16 0.36 0.28 0.45 0.217 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.563793 NA NA 0.156395 0.381752 NA 0.225 NA 5.1292716 1147 7 24325009 24325009 G A exonic NPY NA synonymous SNV NPY:NM_000905:exon2:c.G150A:p.S50S exonic ENSG00000122585 NA synonymous SNV ENSG00000122585:ENST00000405982:exon1:c.G150A:p.S50S,ENSG00000122585:ENST00000242152:exon2:c.G150A:p.S50S,ENSG00000122585:ENST00000407573:exon3:c.G150A:p.S50S NA NA 7p15.3 NA NA Name=2 NA rs5573 0.55 0.55 0.528 0.513978 0.507 0.6379 0.6643 0.3555 0.501 0.53 0.66 0.64 0.4 0.5303 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 1.47949 1.47949 NA 0.500116 0.373128 ID=COSM1450096;OCCURENCE=1(large_intestine) 0.486 NA 5.1292506 1147 19 38997459 38997459 G C intronic RYR1 NA NA NA intronic ENSG00000196218 NA NA NA NA NA 19q13.2 NA Name=Pol2,HA-E2F1,E2F6_(H-50),E2F6 NA NA rs2915958 0.35 0.35 0.333 0.40615 0.2982 0.3532 0.366 0.4856 0.4928 0.31 0.32 0.35 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 1.769417 1.769417 NA 0.248488 0.42601 NA 0.333 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079180.1|RCV000119758.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.129012 1147 7 151074296 151074296 A G exonic NUB1 NA synonymous SNV NUB1:NM_001243351:exon15:c.A1905G:p.A635A,NUB1:NM_016118:exon15:c.A1863G:p.A621A exonic ENSG00000013374 NA synonymous SNV ENSG00000013374:ENST00000355851:exon15:c.A1833G:p.A611A,ENSG00000013374:ENST00000413040:exon15:c.A1863G:p.A621A,ENSG00000013374:ENST00000566856:exon15:c.A1791G:p.A597A,ENSG00000013374:ENST00000568733:exon15:c.A1905G:p.A635A NA NA 7q36.1 NA NA NA NA rs2159158 0.43 0.43 0.393 0.332867 0.5249 0.4603 0.4035 0.1233 0.2372 0.53 0.51 0.45 0.15 0.502 0.53 . . . . . . . . 1.000 P . . . . -0.900 T 0.000 T . -0.944 0.352 1.06 0.019 0.018 7.613 -0.944139 NA NA 0.512485 0.173077 NA 0.384 NA 5.1272816 1147 2 209010558 209010558 A G exonic CRYGB NA synonymous SNV CRYGB:NM_005210:exon2:c.T192C:p.P64P exonic ENSG00000182187 NA synonymous SNV ENSG00000182187:ENST00000260988:exon2:c.T192C:p.P64P Score=512;Name=lod=161 NA 2q34 NA NA NA NA rs2854723 0.39 0.39 0.347 0.401957 0.5209 0.2659 0.2997 0.382 0.5194 0.51 0.26 0.33 0.4 0.4817 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.007748 NA NA 0.537093 0.429868 NA 0.413 NA 5.1269736 1147 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 1147 17 7133162 7133162 G A exonic DVL2 NA synonymous SNV DVL2:NM_004422:exon5:c.C621T:p.S207S exonic ENSG00000004975 NA synonymous SNV ENSG00000004975:ENST00000005340:exon5:c.C621T:p.S207S,ENSG00000004975:ENST00000574143:exon5:c.C423T:p.S141S,ENSG00000004975:ENST00000575458:exon5:c.C603T:p.S201S,ENSG00000004975:ENST00000575756:exon5:c.C609T:p.S203S Score=605;Name=lod=384 NA 17p13.1 NA NA NA NA rs222836 0.45 0.45 0.419 0.452077 0.5109 0.4712 0.451 0.3018 0.5757 0.49 0.46 0.51 0.32 0.5118 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.109114 NA NA 0.517326 0.342714 NA 0.391 NA 5.1266406 1147 12 103237468 103237468 G C exonic PAH NA synonymous SNV PAH:NM_000277:exon11:c.C1155G:p.L385L exonic ENSG00000171759 NA synonymous SNV ENSG00000171759:ENST00000553106:exon11:c.C1155G:p.L385L,ENSG00000171759:ENST00000307000:exon12:c.C1140G:p.L380L Score=597;Name=lod=356 NA 12q23.2 NA NA NA NA rs772897 0.85 0.85 0.848 0.840256 0.8429 0.8433 0.8847 0.7882 0.8732 0.85 0.85 0.86 0.81 0.8582 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 -0.361106 NA NA 0.838953 0.804131 NA 0.906 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000088769.1;CLNDSDB=.;CLNDSDBID=. 5.1266136 1147 6 99893878 99893878 T C exonic USP45 NA synonymous SNV USP45:NM_001080481:exon14:c.A1770G:p.L590L exonic ENSG00000123552 NA synonymous SNV ENSG00000123552:ENST00000392738:exon11:c.A810G:p.L270L,ENSG00000123552:ENST00000369233:exon13:c.A1626G:p.L542L,ENSG00000123552:ENST00000327681:exon14:c.A1770G:p.L590L,ENSG00000123552:ENST00000500704:exon14:c.A1770G:p.L590L NA NA 6q16.2 NA NA NA NA rs12203426 0.09 0.09 0.061 0.0648962 0.1879 0.001 0.1455 0.0038 0.0297 0.18 0.0017 0.15 0.01 0.1516 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.094003 2.094003 NA 0.20093 0.041099 NA 0.036 NA 5.1262366 1147 12 6619402 6619402 T C ncRNA_exonic SCARNA10 NA NA NA ncRNA_exonic ENSG00000239002 NA NA NA Score=493;Name=lod=135 NA 12p13.31 NA NA NA NA rs714775 0.2 0.2 0.163 0.184505 0.1809 0.3323 0.2017 0.0628 0.1881 0.18 0.33 0.21 0.06 0.1808 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.621241 2.621241 NA 0.178805 0.067922 NA 0.159 NA 5.1261616 1147 3 194387300 194387300 C T exonic LSG1 NA synonymous SNV LSG1:NM_018385:exon3:c.G228A:p.E76E exonic ENSG00000041802 NA synonymous SNV ENSG00000041802:ENST00000265245:exon3:c.G228A:p.E76E,ENSG00000041802:ENST00000427461:exon3:c.G228A:p.E76E Score=481;Name=lod=120 NA 3q29 NA NA NA NA rs1675943 0.4 0.4 0.389 0.42512 0.5348 0.4405 0.4481 0.2587 0.5051 0.49 0.4 0.41 0.25 0.4785 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.261105 2.261105 NA 0.527907 0.302315 NA 0.377 NA 5.1254596 1148 11 123676413 123676413 G A exonic OR6M1 NA synonymous SNV OR6M1:NM_001005325:exon1:c.C645T:p.Y215Y exonic ENSG00000196099 NA synonymous SNV ENSG00000196099:ENST00000309154:exon1:c.C645T:p.Y215Y NA NA 11q24.1 NA NA NA NA rs7952150 0.23 0.23 0.222 0.223642 0.1869 0.1905 0.2666 0.3177 0.138 0.18 0.19 0.28 0.32 0.1923 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.047603 NA NA 0.16248 0.271798 NA 0.246 NA 5.1249866 1148 5 57754808 57754808 G A intronic PLK2 NA NA NA intronic ENSG00000145632 NA NA NA Score=683;Name=lod=797 NA 5q11.2 NA Name=TCF4,Rad21,p300_(N-15),STAT3,CEBPB,JunD Name=105 NA rs697133 0.73 0.73 0.729 0.740216 0.6113 0.8948 0.745 0.7595 0.684 0.61 0.92 0.69 0.73 0.6662 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 2.054238 2.054238 NA 0.597674 0.714707 NA 0.681 NA 5.124826 1148 19 55539072 55539072 T G exonic GP6 NA synonymous SNV GP6:NM_001083899:exon4:c.A484C:p.R162R,GP6:NM_001256017:exon4:c.A484C:p.R162R,GP6:NM_016363:exon4:c.A484C:p.R162R exonic ENSG00000088053 NA synonymous SNV ENSG00000088053:ENST00000468239:exon3:c.A253C:p.R85R,ENSG00000088053:ENST00000310373:exon4:c.A484C:p.R162R,ENSG00000088053:ENST00000333884:exon4:c.A484C:p.R162R,ENSG00000088053:ENST00000417454:exon4:c.A484C:p.R162R NA NA 19q13.42 NA Name=ZBTB7A_(SC-34508) Name=10 NA rs892090 0.87 0.87 0.844 0.842652 0.8549 0.9663 0.9092 0.7474 0.7843 0.85 0.98 0.9 0.75 0.847 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 1.085549 NA NA 0.840494 0.770359 NA 0.797 NA 5.1242726 1148 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=Rad21,c-Myc,IRF1,SP1,YY1_(C-20),Mxi1_(bHLH),PAX5-C20,CEBPB,YY1,Pol2(b),Egr-1,TBP,ZNF263,GTF2F1_(RAP-74),HA-E2F1,Pol2,USF-1,Pol2(phosphoS2),CTCF,E2F6_(H-50),GABP,Pol2-4H8,TAF1,RFX5_(N-494),NFKB,Znf143_(16618-1-AP),ELF1_(SC-631),HEY1,KAP1 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 1148 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 1148 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 1148 10 134884595 134884595 G A intergenic LOC399829,GPR123 dist=94594;dist=16814 NA NA exonic ENSG00000197177 NA nonsynonymous SNV ENSG00000197177:ENST00000607359:exon1:c.G163A:p.G55S NA NA 10q26.3 NA NA NA NA rs4271313 0.61 0.61 0.619 0.622404 0.5716 0.6577 0.536 0.6589 0.6503 0.58 0.68 0.56 0.61 0.5927 0.68 0 D 0.023 B 0.003 B . . . . . . . . -0.959 T 0.000 T . -0.147 3.279 0.604 -0.572 0.865 8.452 -0.147389 NA NA 0.545162 0.652049 NA 0.659 NA 5.1238714 1148 19 18375815 18375815 G A exonic KIAA1683 NA synonymous SNV KIAA1683:NM_001145304:exon3:c.C2535T:p.N845N,KIAA1683:NM_001145305:exon3:c.C2397T:p.N799N,KIAA1683:NM_025249:exon3:c.C2535T:p.N845N exonic ENSG00000130518 NA synonymous SNV ENSG00000130518:ENST00000392413:exon3:c.C2535T:p.N845N,ENSG00000130518:ENST00000600328:exon3:c.C2535T:p.N845N,ENSG00000130518:ENST00000600359:exon3:c.C2397T:p.N799N NA NA 19p13.11 NA NA NA NA rs8103177 0.27 0.27 0.282 0.30012 0.1581 0.3165 0.2478 0.4554 0.2566 0.15 0.29 0.23 0.47 0.2216 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05456 NA NA 0.16341 0.420563 NA 0.246 NA 5.1235566 1148 17 38991053 38991053 T A exonic TMEM99 NA synonymous SNV TMEM99:NM_001195386:exon3:c.T285A:p.L95L,TMEM99:NM_001195387:exon3:c.T285A:p.L95L,TMEM99:NM_145274:exon3:c.T285A:p.L95L exonic ENSG00000167920 NA synonymous SNV ENSG00000167920:ENST00000301665:exon3:c.T285A:p.L95L,ENSG00000167920:ENST00000436612:exon3:c.T285A:p.L95L NA NA 17q21.2 NA NA NA NA rs3169915 0.09 0.09 0.088 0.108626 0.1928 0.004 0.1182 0.1248 0.1012 0.14 NA 0.11 0.1 0.1565 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 -0.253961 NA NA 0.194404 0.110222 NA NA NA 5.1229626 1148 6 90333599 90333599 A G exonic ANKRD6 NA synonymous SNV ANKRD6:NM_001242814:exon9:c.A864G:p.A288A,ANKRD6:NM_001242813:exon11:c.A936G:p.A312A,ANKRD6:NM_001242809:exon12:c.A1041G:p.A347A,ANKRD6:NM_001242811:exon12:c.A1041G:p.A347A,ANKRD6:NM_014942:exon12:c.A1041G:p.A347A exonic ENSG00000135299 NA synonymous SNV ENSG00000135299:ENST00000518150:exon3:c.A264G:p.A88A,ENSG00000135299:ENST00000520793:exon9:c.A864G:p.A288A,ENSG00000135299:ENST00000369408:exon11:c.A936G:p.A312A,ENSG00000135299:ENST00000339746:exon12:c.A1041G:p.A347A,ENSG00000135299:ENST00000447838:exon12:c.A1041G:p.A347A,ENSG00000135299:ENST00000522441:exon12:c.A1041G:p.A347A NA NA 6q15 Score=902;Name=V$TGIF_01 Name=PU.1 NA NA rs17292811 0.9 0.9 0.886 0.904153 0.8419 0.997 0.9193 0.8752 0.9008 0.84 1 0.9 0.87 0.8651 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.279683 1.279683 NA 0.836864 0.881468 NA 0.877 NA 5.1228026 1148 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 1148 16 81173136 81173136 T C exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN Score=540;Name=lod=209 NA 16q23.2 NA Name=CTCF Name=11 NA rs12918619 0.94 0.94 0.947 0.946286 0.9592 0.9306 0.9323 0.9387 0.9693 0.95 0.92 0.95 0.97 0.9557 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 -1.328312 NA NA 0.962557 0.941433 NA 0.957 NA 5.122543 1148 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 1148 5 171523436 171523436 G A exonic STK10 NA synonymous SNV STK10:NM_005990:exon8:c.C999T:p.A333A exonic ENSG00000072786 NA synonymous SNV ENSG00000072786:ENST00000176763:exon8:c.C999T:p.A333A NA NA 5q35.1 NA NA NA NA rs4868141 0.16 0.16 0.141 0.152556 0.1889 0.1905 0.2291 0.0628 0.1431 0.2 0.17 0.23 0.05 0.1786 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.522523 NA NA 0.178372 0.082161 NA 0.188 NA 5.1207946 1148 8 132002770 132002770 G A exonic ADCY8 NA synonymous SNV ADCY8:NM_001115:exon2:c.C979T:p.L327L exonic ENSG00000155897 NA synonymous SNV ENSG00000155897:ENST00000286355:exon2:c.C979T:p.L327L,ENSG00000155897:ENST00000377928:exon2:c.C979T:p.L327L NA NA 8q24.22 NA NA NA NA rs2228950 0.26 0.26 0.268 0.310304 0.168 0.0774 0.2291 0.6921 0.2382 0.16 0.07 0.23 0.66 0.2155 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 0.933559 NA NA 0.162674 0.62778 NA 0.348 NA 5.1204926 1148 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 1148 5 37333727 37333727 A G exonic NUP155 NA synonymous SNV NUP155:NM_004298:exon13:c.T1179C:p.A393A,NUP155:NM_153485:exon13:c.T1356C:p.A452A exonic ENSG00000113569 NA synonymous SNV ENSG00000113569:ENST00000231498:exon13:c.T1356C:p.A452A,ENSG00000113569:ENST00000381843:exon13:c.T1179C:p.A393A,ENSG00000113569:ENST00000513532:exon13:c.T1356C:p.A452A NA NA 5p13.2 NA NA NA NA rs150594 0.3 0.3 0.318 0.355032 0.1531 0.123 0.2219 0.854 0.2219 0.15 0.08 0.24 0.83 0.2343 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 -0.115208 NA NA 0.159884 0.731729 NA 0.312 NA 5.1193826 1148 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 1148 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 1148 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 1148 14 67878717 67878717 A G intronic PLEK2 NA NA NA intronic ENSG00000100558 NA NA NA NA NA 14q23.3 NA Name=E2F6,Ini1,HA-E2F1,Pol2,Pol2(phosphoS2),c-Myc Name=53 NA rs12888674 0.19 0.19 0.17 0.15655 0.3012 0.0873 0.2104 0.0825 0.1411 0.3 0.09 0.25 0.1 0.2892 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.957679 NA NA 0.291087 0.106354 NA 0.08 NA 5.118513 1148 1 46871986 46871986 T C exonic FAAH NA synonymous SNV FAAH:NM_001441:exon7:c.T897C:p.C299C exonic ENSG00000117480 NA synonymous SNV ENSG00000117480:ENST00000243167:exon7:c.T897C:p.C299C Score=458;Name=lod=97 NA 1p33 NA Name=CTCF NA NA rs324419 0.91 0.91 0.908 0.884385 0.8519 0.995 0.9265 0.8585 0.8088 0.87 1 0.92 0.87 0.8593 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330514 NA NA 0.836977 0.851112 NA 0.913 NA 5.1184896 1148 11 68854012 68854012 A G exonic TPCN2 NA synonymous SNV TPCN2:NM_139075:exon23:c.A2025G:p.V675V exonic ENSG00000162341 NA synonymous SNV ENSG00000162341:ENST00000294309:exon23:c.A2025G:p.V675V NA NA 11q13.3 NA NA NA NA rs35337391 0.11 0.11 0.106 0.103235 0.2038 0.0109 0.085 0.0401 0.1933 0.22 0.0017 0.1 0.05 0.1661 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.655409 NA NA 0.178505 0.049773 NA 0.13 NA 5.1182616 1148 15 34113010 34113010 C T exonic RYR3 NA synonymous SNV RYR3:NM_001243996:exon77:c.C10797T:p.F3599F,RYR3:NM_001036:exon78:c.C10812T:p.F3604F exonic ENSG00000198838 NA synonymous SNV ENSG00000198838:ENST00000415757:exon77:c.C10797T:p.F3599F,ENSG00000198838:ENST00000389232:exon78:c.C10812T:p.F3604F Score=565;Name=lod=263 NA 15q14 NA NA NA NA rs2288613 0.41 0.41 0.405 0.3748 0.5159 0.3026 0.3689 0.3048 0.4029 0.53 0.31 0.38 0.35 0.5171 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.00675 NA NA 0.515652 0.310546 ID=COSM433726;OCCURENCE=1(breast) 0.449 NA 5.1180146 1148 4 177113956 177113956 A G exonic SPATA4 NA synonymous SNV SPATA4:NM_144644:exon4:c.T510C:p.Y170Y exonic ENSG00000150628 NA synonymous SNV ENSG00000150628:ENST00000280191:exon4:c.T510C:p.Y170Y NA NA 4q34.2 NA NA NA NA rs2291244 0.22 0.22 0.223 0.226238 0.1769 0.381 0.1614 0.1573 0.2566 0.19 0.37 0.18 0.14 0.1986 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.442308 NA NA 0.17407 0.165002 NA 0.109 NA 5.1170966 1148 6 36652339 36652339 C G intronic CDKN1A NA NA NA intronic ENSG00000124762 NA NA NA NA NA 6p21.2 NA Name=Pol2,Pol2-4H8 Name=6 NA rs3176352 0.47 0.47 0.498 0.503594 0.2416 0.6121 0.4035 0.7095 0.454 0.23 0.59 0.42 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 1.375916 1.375916 NA 0.274884 0.608261 NA 0.457 NA 5.116816 1148 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 1148 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 1148 2 27838058 27838058 C A exonic ZNF512 NA synonymous SNV ZNF512:NM_001271286:exon10:c.C1068A:p.L356L,ZNF512:NM_001271287:exon10:c.C924A:p.L308L,ZNF512:NM_001271288:exon10:c.C924A:p.L308L,ZNF512:NM_001271289:exon10:c.C840A:p.L280L,ZNF512:NM_032434:exon11:c.C1155A:p.L385L,ZNF512:NM_001271318:exon12:c.C924A:p.L308L exonic ENSG00000243943 NA synonymous SNV ENSG00000243943:ENST00000556601:exon9:c.C762A:p.L254L,ENSG00000243943:ENST00000416005:exon10:c.C1068A:p.L356L,ENSG00000243943:ENST00000355467:exon11:c.C1155A:p.L385L,ENSG00000243943:ENST00000379717:exon11:c.C1152A:p.L384L,ENSG00000243943:ENST00000413371:exon12:c.C924A:p.L308L Score=546;Name=lod=220 NA 2p23.3 NA NA NA NA rs11127071 0.66 0.66 0.662 0.652756 0.497 0.8452 0.6873 0.7148 0.5061 0.49 0.86 0.63 0.72 0.5596 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 0.485916 NA NA 0.494419 0.672946 NA 0.558 NA 5.1156476 1148 1 202287537 202287537 G A exonic LGR6 NA synonymous SNV LGR6:NM_001017404:exon16:c.G1689A:p.A563A,LGR6:NM_001017403:exon18:c.G2106A:p.A702A,LGR6:NM_021636:exon18:c.G1950A:p.A650A exonic ENSG00000133067 NA synonymous SNV ENSG00000133067:ENST00000439764:exon16:c.G1689A:p.A563A,ENSG00000133067:ENST00000255432:exon18:c.G1950A:p.A650A,ENSG00000133067:ENST00000367278:exon18:c.G2106A:p.A702A NA NA 1q32.1 Score=816;Name=V$PAX5_01 NA NA NA rs788794 0.53 0.53 0.508 0.527955 0.5268 0.7163 0.6182 0.2791 0.6074 0.54 0.7 0.57 0.28 0.5457 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 -0.872462 NA NA 0.47859 0.314175 NA 0.486 NA 5.1155766 1148 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 1148 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 1149 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 1149 5 5240002 5240002 C A exonic ADAMTS16 NA synonymous SNV ADAMTS16:NM_139056:exon16:c.C2487A:p.I829I exonic ENSG00000145536 NA synonymous SNV ENSG00000145536:ENST00000274181:exon16:c.C2487A:p.I829I NA NA 5p15.32 NA NA NA NA rs11742370 0.1 0.1 0.104 0.113419 0.1938 0.0734 0.1081 0.0053 0.2219 0.19 0.08 0.1 0.01 0.1663 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 -0.816187 NA NA 0.191906 0.031283 NA 0.188 NA 5.1146606 1149 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 1149 4 80329343 80329343 T C exonic GK2 NA synonymous SNV GK2:NM_033214:exon1:c.A12G:p.P4P exonic ENSG00000196475 NA synonymous SNV ENSG00000196475:ENST00000358842:exon1:c.A12G:p.P4P NA NA 4q21.21 NA NA NA NA rs6837906 0.26 0.26 0.213 0.289936 0.1491 0.4593 0.3127 0.1233 0.4693 0.15 0.47 0.29 0.14 0.2453 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.188965 NA NA 0.158023 0.143506 NA 0.217 NA 5.1142436 1149 9 100444533 100444533 A G intronic XPA NA NA NA UTR3 ENSG00000136936 ENST00000462523:c.*58T>C NA NA Score=538;Name=lod=204 NA 9q22.33 NA NA NA NA rs41274256 0.01 0.01 0.008 0.00838658 0.0318 NA 0.0029 NA 0.0082 0.03 NA 0.01 NA 0.0219 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 2.178572 2.178572 NA NA NA NA 0.007 NA 5.1129667 1149 14 90756760 90756760 A T exonic NRDE2 NA synonymous SNV NRDE2:NM_017970:exon10:c.T2034A:p.T678T exonic ENSG00000119720 NA synonymous SNV ENSG00000119720:ENST00000357904:exon8:c.T1341A:p.T447T,ENSG00000119720:ENST00000354366:exon10:c.T2034A:p.T678T NA NA 14q32.11 NA NA NA NA rs3742671 0.12 0.12 0.091 0.11861 0.167 0.0774 0.1916 0.0272 0.183 0.17 0.09 0.17 0.03 0.1887 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722921 NA NA 0.198837 0.053336 NA 0.116 NA 5.1121296 1149 9 139276430 139276430 G A exonic SNAPC4 NA synonymous SNV SNAPC4:NM_003086:exon17:c.C2163T:p.H721H exonic ENSG00000165684 NA synonymous SNV ENSG00000165684:ENST00000298532:exon17:c.C2163T:p.H721H NA NA 9q34.3 NA NA NA NA rs34850728 0.09 0.09 0.083 0.105232 0.1799 0.002 0.1081 0.0068 0.2658 0.18 0.0017 0.13 0.01 0.1785 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.090572 NA NA 0.196204 0.039827 NA 0.036 NA 5.1120626 1149 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 1149 9 136131289 136131289 C T exonic ABO NA unknown UNKNOWN ncRNA_exonic ENSG00000175164 NA NA NA Score=284;Name=lod=19 NA 9q34.2 NA NA NA NA rs8176748 0.27 0.27 0.253 0.269369 0.2207 0.2897 0.4308 0.2428 0.2198 0.22 0.28 0.38 0.25 0.264 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.587377 NA 0.01 0.236792 0.22714 ID=COSM455537;OCCURENCE=1(breast) 0.181 NA 5.1118413 1149 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 1149 8 144895553 144895553 G A intronic SCRIB NA NA NA intronic ENSG00000180900 NA NA NA NA NA 8q24.3 NA Name=c-Myc Name=6 NA rs13251492 0.35 0.35 0.309 0.345847 0.2863 0.6161 0.2968 0.2519 0.2904 0.28 0.6 0.28 0.22 0.3223 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425815 NA NA 0.280581 0.256922 NA 0.304 NA 5.110819 1149 14 35242828 35242828 G A exonic BAZ1A NA synonymous SNV BAZ1A:NM_182648:exon19:c.C3006T:p.D1002D,BAZ1A:NM_013448:exon20:c.C3102T:p.D1034D exonic ENSG00000198604 NA synonymous SNV ENSG00000198604:ENST00000358716:exon19:c.C3006T:p.D1002D,ENSG00000198604:ENST00000382422:exon19:c.C3102T:p.D1034D,ENSG00000198604:ENST00000360310:exon20:c.C3102T:p.D1034D NA NA 14q13.1 Score=770;Name=V$HTF_01 NA NA NA rs2275145 0.51 0.51 0.488 0.515375 0.5318 0.4911 0.5461 0.4387 0.6053 0.55 0.48 0.54 0.47 0.518 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143855 NA NA 0.506164 0.471176 NA 0.464 NA 5.1107026 1149 1 91794091 91794091 G C intronic HFM1 NA NA NA ncRNA_exonic ENSG00000215873 NA NA NA Score=751;Name=lod=1505 NA 1p22.2 NA NA NA NA rs7541566 0.32 0.32 0.291 0.338259 0.2227 0.5347 0.389 0.2209 0.3773 0.21 0.55 0.32 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 2.793189 2.793189 NA NA NA NA 0.254 NA 5.1106333 1149 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 1149 3 148881673 148881673 C T exonic HPS3 NA synonymous SNV HPS3:NM_032383:exon14:c.C2526T:p.H842H exonic ENSG00000163755 NA synonymous SNV ENSG00000163755:ENST00000460822:exon4:c.C654T:p.H218H,ENSG00000163755:ENST00000460120:exon13:c.C2031T:p.H677H,ENSG00000163755:ENST00000296051:exon14:c.C2526T:p.H842H NA NA 3q24 NA NA NA NA rs3732557 0.17 0.17 0.157 0.155351 0.1799 0.2738 0.1441 0.0136 0.2076 0.19 0.28 0.15 0.02 0.187 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.888534 NA NA 0.189274 0.04564 NA 0.116 NA 5.1104926 1149 19 15083485 15083485 T C intronic SLC1A6 NA NA NA intronic ENSG00000105143 NA NA NA Score=259;Name=lod=15 NA 19p13.12 NA Name=E2F6 NA NA rs3746294 0.32 0.32 0.278 0.324281 0.2962 0.3581 0.3213 0.3071 0.3436 0.31 0.35 0.31 0.3 0.3157 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.757909 NA NA 0.278037 0.29532 NA 0.268 NA 5.110063 1149 6 30032522 30032522 A C UTR3 ZNRD1 NM_170783:c.*48A>C,NM_014596:c.*48A>C NA NA UTR3 ENSG00000066379 ENST00000332435:c.*48A>C,ENST00000376782:c.*48A>C,ENST00000359374:c.*48A>C,ENST00000376785:c.*48A>C NA NA NA Name=AIDS progression,Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) 6p22.1 NA NA NA NA rs8321 0.03 0.03 0.038 0.0183706 0.0755 NA 0.0173 0.003 NA 0.08 NA 0.02 0.0041 0.0519 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 1.398894 1.398894 NA 0.09675 0.019536 NA 0.08 NA 5.1091834 1149 2 17998331 17998331 T C exonic MSGN1 NA synonymous SNV MSGN1:NM_001105569:exon1:c.T546C:p.L182L exonic ENSG00000151379 NA synonymous SNV ENSG00000151379:ENST00000281047:exon1:c.T546C:p.L182L Score=467;Name=lod=105 NA 2p24.2 NA NA NA NA rs13001625 0.31 0.31 0.323 0.294529 0.5378 0.0278 0.3501 0.2027 0.4039 0.54 0.03 0.4 0.22 0.4497 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.752876 NA NA 0.57049 0.258968 NA 0.442 NA 5.1086766 1149 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 1149 1 172411496 172411496 A G exonic PIGC NA synonymous SNV PIGC:NM_002642:exon2:c.T267C:p.G89G,PIGC:NM_153747:exon2:c.T267C:p.G89G exonic ENSG00000135845 NA synonymous SNV ENSG00000135845:ENST00000367728:exon1:c.T267C:p.G89G,ENSG00000135845:ENST00000258324:exon2:c.T267C:p.G89G,ENSG00000135845:ENST00000344529:exon2:c.T267C:p.G89G Score=491;Name=lod=132 NA 1q24.3 NA Name=ZBTB7A_(SC-34508),GABP NA NA rs2230471 0.91 0.91 0.907 0.924121 0.8499 1 0.9092 0.9047 0.9591 0.84 1 0.92 0.9 0.8747 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.986976 NA NA 0.833837 0.892646 NA 0.87 NA 5.1082296 1149 19 17361064 17361064 C T exonic USHBP1 NA synonymous SNV USHBP1:NM_031941:exon13:c.G2082A:p.P694P exonic ENSG00000130307 NA synonymous SNV ENSG00000130307:ENST00000431146:exon12:c.G1890A:p.P630P,ENSG00000130307:ENST00000252597:exon13:c.G2082A:p.P694P NA NA 19p13.11 NA NA NA NA rs10415471 0.13 0.13 0.143 0.124401 0.1759 0.002 0.0994 0.1868 0.1309 0.18 0.0017 0.11 0.21 0.1886 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.230175 NA NA 0.19407 0.206083 NA 0.138 NA 5.1080966 1149 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 1149 16 71780599 71780599 T C intronic AP1G1 NA NA NA UTR5 ENSG00000166747 ENST00000564155:c.-104A>G NA NA NA NA 16q22.2 NA Name=CTCF,CTCF_(SC-5916),Rad21,SMC3_(ab9263) Name=124 NA rs2270831 0.44 0.44 0.434 0.422724 0.3241 0.7609 0.5259 0.2655 0.3149 0.31 0.74 0.46 0.28 0.3952 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391844 NA NA 0.339535 0.280482 NA 0.355 NA 5.1078317 1149 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$YY1_01 NA NA NA rs2445290 0.8 0.8 0.797 0.826278 0.8718 0.6696 0.8271 0.8752 0.8742 0.87 0.66 0.81 0.85 0.8348 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.170384 NA NA 0.852257 0.853476 NA 0.862 NA 5.1078096 1149 17 9515777 9515777 G A exonic WDR16 NA nonsynonymous SNV WDR16:NM_001080556:exon7:c.G802A:p.E268K,WDR16:NM_145054:exon8:c.G1006A:p.E336K exonic ENSG00000166596 NA nonsynonymous SNV ENSG00000166596:ENST00000396219:exon7:c.G802A:p.E268K,ENSG00000166596:ENST00000299764:exon8:c.G1036A:p.E346K,ENSG00000166596:ENST00000352665:exon8:c.G1006A:p.E336K NA NA 17p13.1 NA NA NA NA rs6503235 0.61 0.61 0.586 0.599641 0.7594 0.5714 0.7594 0.3116 0.7403 0.76 0.56 0.73 0.34 0.7106 0.76 0.75 T 0.001 B 0.002 B 0.023 N 1.000 P -1.245 N 5.07 T -0.914 T 0.000 T 0.065 0.471 6.556 0.828 -0.055 0.842 13.102 0.470932 NA 0.32 0.755814 0.40808 ID=COSM148192;OCCURENCE=1(stomach) 0.551 NA 5.1075194 1149 6 31322459 31322459 T C intronic HLA-B NA NA NA intronic ENSG00000234745 NA NA NA NA NA 6p21.33 NA Name=Pol2,Pol2-4H8 Name=4 NA rs2507992 0.22 0.22 0.207 0.209065 0.3072 0.1121 0.2378 0.1732 0.2362 0.3 0.13 0.21 0.19 0.2658 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.637867 2.637867 NA 0.319651 0.201089 NA 0.239 NA 5.107349 1149 10 128821415 128821415 G A intronic DOCK1 NA NA NA ncRNA_intronic ENSG00000223528,ENSG00000232935 NA NA NA NA NA 10q26.2 Score=865;Name=V$HLF_01 NA NA NA rs2050812 0.13 0.13 0.126 0.121605 0.0716 0.2232 0.1427 0.118 0.0583 0.07 0.22 0.13 0.13 0.0962 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.91783 NA NA 0.058593 0.115195 NA 0.167 NA 5.1069403 1149 11 6703334 6703334 A G UTR3 MRPL17 NM_022061:c.*15T>C NA NA UTR3 ENSG00000158042 ENST00000288937:c.*15T>C NA NA NA NA 11p15.4 NA NA Name=48 NA rs8109 0.09 0.09 0.093 0.0974441 0.0736 0.001 0.0937 0.2466 0.0225 0.07 0.0017 0.09 0.23 0.0795 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.963271 NA NA 0.073324 0.212176 NA 0.13 NA 5.1069094 1149 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 1149 17 7297452 7297452 A G ncRNA_exonic C17orf61-PLSCR3 NA NA NA UTR5;UTR3 ENSG00000187838;ENSG00000262481 ENST00000573070:c.-23T>C,ENST00000324822:c.-23T>C,ENST00000574401:c.-23T>C,ENST00000576201:c.-23T>C,ENST00000535512:c.-23T>C,ENST00000576362:c.-23T>C,ENST00000571078:c.-1181T>C,ENST00000571802:c.-1181T>C,ENST00000573213:c.-23T>C;ENST00000573331:c.*776T>C,ENST00000570600:c.*309T>C,ENST00000571125:c.*309T>C,ENST00000570569:c.*313T>C NA NA NA NA 17p13.1 Score=735;Name=V$PAX4_04 Name=Pol2 Name=10 NA rs4613118 0.57 0.57 0.57 0.545128 0.8221 0.2976 0.5 0.444 0.684 0.82 0.29 0.58 0.49 0.7169 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.332044 NA NA 0.854247 0.527481 NA 0.616 NA 5.106753 1149 6 31322402 31322402 C T intronic HLA-B NA NA NA intronic ENSG00000234745 NA NA NA NA NA 6p21.33 NA Name=Pol2-4H8,Pol2 Name=4 NA rs2442718 0.22 0.22 0.241 0.208267 0.3072 0.1111 0.2334 0.1732 0.2362 0.3 0.13 0.21 0.19 0.2662 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.885995 NA NA 0.320116 0.201316 NA 0.181 NA 5.106484 1149 2 241808685 241808685 C T exonic AGXT NA synonymous SNV AGXT:NM_000030:exon2:c.C264T:p.A88A exonic ENSG00000172482 NA synonymous SNV ENSG00000172482:ENST00000307503:exon2:c.C264T:p.A88A NA NA 2q37.3 NA NA NA NA rs35698882 0.11 0.11 0.104 0.08127 0.2058 NA 0.1326 0.0363 0.0613 0.21 NA 0.14 0.05 0.1498 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.097696 NA NA 0.204767 0.062188 NA 0.109 NA 5.1062996 1149 17 38911212 38911212 G A exonic KRT25 NA synonymous SNV KRT25:NM_181534:exon1:c.C312T:p.N104N exonic ENSG00000204897 NA synonymous SNV ENSG00000204897:ENST00000312150:exon1:c.C312T:p.N104N NA NA 17q21.2 Score=836;Name=V$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 1149 12 52080965 52080965 C T exonic SCN8A NA synonymous SNV SCN8A:NM_001177984:exon5:c.C576T:p.D192D,SCN8A:NM_014191:exon5:c.C576T:p.D192D exonic ENSG00000196876 NA synonymous SNV ENSG00000196876:ENST00000355133:exon4:c.C576T:p.D192D,ENSG00000196876:ENST00000545061:exon4:c.C576T:p.D192D,ENSG00000196876:ENST00000354534:exon5:c.C576T:p.D192D,ENSG00000196876:ENST00000550891:exon5:c.C576T:p.D192D Score=693;Name=lod=871 NA 12q13.13 NA NA NA NA rs4761829 0.85 0.85 0.839 0.784944 0.8618 0.994 0.8948 0.6195 0.636 0.87 1 0.88 0.65 0.8367 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.194489 NA NA 0.86262 0.666323 NA 0.761 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118289.2;CLNDSDB=.;CLNDSDBID=. 5.1055466 1149 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 1149 11 65546857 65546857 A C exonic AP5B1 NA synonymous SNV AP5B1:NM_138368:exon2:c.T1107G:p.L369L exonic ENSG00000254470 NA synonymous SNV ENSG00000254470:ENST00000532090:exon2:c.T1107G:p.L369L Score=511;Name=lod=159 NA 11q13.1 NA NA NA NA rs610037 0.5 0.5 0.543 0.453874 0.5328 0.3681 0.3862 0.6309 0.2699 0.53 0.37 0.44 0.65 0.4902 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.504978 2.504978 NA 0.538443 0.61784 NA 0.514 NA 5.1052236 1149 1 221057662 221057662 G A exonic HLX NA synonymous SNV HLX:NM_021958:exon4:c.G1083A:p.E361E exonic ENSG00000136630 NA synonymous SNV ENSG00000136630:ENST00000549319:exon2:c.G441A:p.E147E,ENSG00000136630:ENST00000366903:exon4:c.G1083A:p.E361E,ENSG00000136630:ENST00000427693:exon4:c.G282A:p.E94E NA NA 1q41 NA NA NA NA rs3738182 0.16 0.16 0.136 0.186901 0.1779 0.0942 0.1801 0.2572 0.2014 0.17 0.1 0.15 0.22 0.1851 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.929873 NA NA 0.198488 0.228552 NA 0.304 NA 5.1051786 1150 20 22562438 22562438 G A UTR3 FOXA2 NM_021784:c.*50C>T,NM_153675:c.*50C>T NA NA UTR3 ENSG00000125798 ENST00000377115:c.*50C>T,ENST00000419308:c.*50C>T,ENST00000319993:c.*50C>T NA NA NA NA 20p11.21 NA NA Name=5 NA rs1055080 0.25 0.25 0.306 0.271765 0.0716 0.1885 0.0764 0.7126 0.1063 0.07 0.19 0.1 0.73 0.1106 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 -2.885501 NA NA 0.046581 0.552502 NA 0.254 NA 5.1045524 1150 19 55538980 55538980 T C exonic GP6 NA synonymous SNV GP6:NM_001083899:exon4:c.A576G:p.S192S,GP6:NM_001256017:exon4:c.A576G:p.S192S,GP6:NM_016363:exon4:c.A576G:p.S192S exonic ENSG00000088053 NA synonymous SNV ENSG00000088053:ENST00000468239:exon3:c.A345G:p.S115S,ENSG00000088053:ENST00000310373:exon4:c.A576G:p.S192S,ENSG00000088053:ENST00000333884:exon4:c.A576G:p.S192S,ENSG00000088053:ENST00000417454:exon4:c.A576G:p.S192S NA NA 19q13.42 NA Name=HEY1,ZBTB7A_(SC-34508) Name=10 NA rs1654425 0.9 0.9 0.899 0.907149 0.8559 0.9663 0.9337 0.9781 0.7843 0.83 0.94 0.91 0.96 0.8648 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 -0.178537 NA NA 0.841621 0.962944 ID=COSM1396470;OCCURENCE=1(large_intestine) 0.754 NA 5.1043456 1150 22 25753231 25753231 G A exonic LRP5L NA synonymous SNV LRP5L:NM_182492:exon2:c.C429T:p.D143D,LRP5L:NM_001135772:exon4:c.C429T:p.D143D exonic ENSG00000100068 NA synonymous SNV ENSG00000100068:ENST00000402785:exon2:c.C429T:p.D143D,ENSG00000100068:ENST00000402859:exon4:c.C429T:p.D143D,ENSG00000100068:ENST00000444995:exon5:c.C429T:p.D143D Score=665;Name=lod=675 NA 22q11.23 NA NA NA NA rs133194 0.42 0.42 0.409 0.419129 0.5507 0.4097 0.2781 0.2572 0.6125 0.55 0.39 0.36 0.29 0.4785 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.885271 NA NA 0.533488 0.305997 NA 0.457 NA 5.1039786 1150 5 109117171 109117171 A G exonic MAN2A1 NA synonymous SNV MAN2A1:NM_002372:exon9:c.A1449G:p.Q483Q exonic ENSG00000112893 NA synonymous SNV ENSG00000112893:ENST00000261483:exon9:c.A1449G:p.Q483Q NA NA 5q21.3 NA NA NA NA rs13189822 0.28 0.28 0.277 0.278754 0.1541 0.6151 0.2435 0.0575 0.3845 0.17 0.63 0.21 0.08 0.2369 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.976205 NA NA 0.172093 0.071753 NA 0.174 NA 5.1035736 1150 5 156479424 156479424 A C exonic HAVCR1 NA synonymous SNV HAVCR1:NM_012206:exon3:c.T621G:p.T207T,HAVCR1:NM_001099414:exon4:c.T621G:p.T207T,HAVCR1:NM_001173393:exon4:c.T621G:p.T207T exonic ENSG00000113249 NA synonymous SNV ENSG00000113249:ENST00000339252:exon3:c.T621G:p.T207T,ENSG00000113249:ENST00000425854:exon3:c.T621G:p.T207T,ENSG00000113249:ENST00000518745:exon4:c.T621G:p.T207T,ENSG00000113249:ENST00000522693:exon4:c.T621G:p.T207T,ENSG00000113249:ENST00000523175:exon4:c.T621G:p.T207T,ENSG00000113249:ENST00000544197:exon4:c.T621G:p.T207T NA NA 5q33.3 NA Name=NANOG_(SC-33759) Name=2 NA rs1553317 0.9 0.9 0.895 0.91274 0.838 0.9861 0.915 0.8744 0.9642 0.84 0.99 0.9 0.89 0.8847 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 -0.408227 NA NA 0.840996 0.883488 NA 0.725 NA 5.1029706 1150 6 29910419 29910419 G T intronic HLA-A NA NA NA ncRNA_exonic ENSG00000227766 NA NA NA NA NA 6p22.1 NA Name=Pol2(phosphoS2),Pol2,POU2F2,TAF7_(SQ-8),Pol2-4H8,TAF1,HNF4G_(SC-6558),HEY1,Oct-2,YY1_(C-20),Sin3Ak-20,YY1,TBP,GTF2F1_(RAP-74) NA NA rs9260122 0.13 0.13 NA 0.147364 0.1123 0.1349 0.1412 0.1831 0.1524 0.1 0.13 0.16 0.16 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 2.411204 2.411204 NA NA NA NA NA NA 5.1029333 1150 4 38995374 38995374 T C exonic TMEM156 NA synonymous SNV TMEM156:NM_024943:exon3:c.A603G:p.L201L exonic ENSG00000121895 NA synonymous SNV ENSG00000121895:ENST00000381938:exon3:c.A603G:p.L201L,ENSG00000121895:ENST00000344606:exon4:c.A519G:p.L173L Score=352;Name=lod=36 NA 4p14 NA Name=CTCF NA NA rs10212770 0.91 0.91 0.926 0.926518 0.8449 0.9484 0.9107 0.9939 0.908 0.84 0.96 0.9 0.99 0.8753 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 -1.02228 NA NA 0.843721 0.972084 NA 0.942 NA 5.1027456 1150 X 70324157 70324157 C T exonic CXorf65 NA synonymous SNV CXorf65:NM_001025265:exon5:c.G417A:p.A139A exonic ENSG00000204165 NA synonymous SNV ENSG00000204165:ENST00000374251:exon5:c.G417A:p.A139A,ENSG00000204165:ENST00000438526:exon5:c.G417A:p.A139A NA NA Xq13.1 NA NA NA NA rs1130009 0.15 0.15 0.15183 NA NA NA NA NA NA 0.33 NA 0.19 0.03 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 0.151223 NA NA 0.320006 0.063364 NA 0.174 NA 5.1026606 1150 9 18777422 18777422 G A exonic ADAMTSL1 NA synonymous SNV ADAMTSL1:NM_001040272:exon19:c.G3195A:p.L1065L exonic ENSG00000178031 NA synonymous SNV ENSG00000178031:ENST00000380548:exon19:c.G3195A:p.L1065L NA NA 9p22.1 NA NA NA NA rs45579937 0.11 0.11 0.121 0.10004 0.171 0.123 0.0807 0.0136 0.1339 0.18 0.11 0.09 0.02 0.1958 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.058954 NA NA 0.197277 0.0453 ID=COSM455734;OCCURENCE=1(breast) 0.152 NA 5.1025896 1150 3 183212026 183212026 C T exonic KLHL6 NA synonymous SNV KLHL6:NM_130446:exon5:c.G1191A:p.S397S exonic ENSG00000172578 NA synonymous SNV ENSG00000172578:ENST00000341319:exon5:c.G1191A:p.S397S,ENSG00000172578:ENST00000468734:exon5:c.G1158A:p.S386S NA NA 3q27.1 NA NA NA NA rs2256061 0.14 0.14 0.158 0.150759 0.1819 0.0069 0.1225 0.2436 0.1616 0.18 0.01 0.14 0.23 0.1788 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.805081 NA NA 0.203488 0.225828 NA 0.174 NA 5.1024786 1150 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$NRSF_01 NA NA NA rs1714376 0.89 0.89 0.871 0.893171 0.8588 0.9762 0.8991 0.8389 0.9121 0.85 0.98 0.91 0.83 0.8634 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.504608 1.504608 NA 0.841997 0.835794 NA 0.87 NA 5.1024696 1150 16 81157324 81157324 G A exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN Score=498;Name=lod=141 NA 16q23.2 Score=891;Name=V$FOXJ2_01 Name=TAL1_(SC-12984) NA NA rs4889241 0.9 0.9 0.9 0.871805 0.9791 0.9415 0.9553 0.6974 0.8661 0.98 0.94 0.95 0.69 0.9407 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 2.769322 2.769322 NA 0.978023 0.751927 NA 0.899 NA 5.102177 1150 2 20838222 20838222 C T exonic HS1BP3 NA synonymous SNV HS1BP3:NM_022460:exon4:c.G597A:p.E199E exonic ENSG00000118960 NA synonymous SNV ENSG00000118960:ENST00000458740:exon1:c.G54A:p.E18E,ENSG00000118960:ENST00000304031:exon4:c.G597A:p.E199E,ENSG00000118960:ENST00000402541:exon4:c.G597A:p.E199E NA NA 2p24.1 NA NA NA NA rs3796065 0.13 0.13 0.11 0.13778 0.1948 0.0962 0.1282 0.0976 0.183 0.18 0.08 0.15 0.11 0.1723 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.499618 NA NA 0.197442 0.120064 NA 0.145 NA 5.1021246 1150 19 18245512 18245512 C T exonic MAST3 NA synonymous SNV MAST3:NM_015016:exon15:c.C1608T:p.I536I exonic ENSG00000099308 NA synonymous SNV ENSG00000099308:ENST00000262811:exon15:c.C1608T:p.I536I Score=484;Name=lod=124 NA 19p13.11 NA NA NA NA rs2270623 0.51 0.51 0.487 0.53115 0.503 0.6726 0.5245 0.3222 0.7014 0.49 0.69 0.51 0.32 0.5406 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 -0.906766 NA NA 0.521107 0.340376 NA 0.5 NA 5.1019596 1150 17 48070979 48070979 G A intronic DLX3 NA NA NA UTR5 ENSG00000064195 ENST00000512495:c.-60C>T NA NA NA NA 17q21.33 NA NA Name=25 NA rs116948493 0.01 0.01 0.011 0.00798722 0.0268 NA 0.0101 0.0008 0.0051 0.03 NA 0.01 0.002 0.0188 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 -0.242677 NA NA 0.019302 0.002497 NA 0.007 NA 5.1017647 1150 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 1150 9 131398636 131398636 C T exonic WDR34 NA synonymous SNV WDR34:NM_052844:exon4:c.G627A:p.Q209Q exonic ENSG00000119333 NA synonymous SNV ENSG00000119333:ENST00000372715:exon4:c.G627A:p.Q209Q,ENSG00000119333:ENST00000451652:exon4:c.G600A:p.Q200Q Score=361;Name=lod=39 NA 9q34.11 NA Name=HA-E2F1,Pol2,CTCF,ERalpha_a NA NA rs10760570 0.63 0.63 0.618 0.601438 0.8698 0.5119 0.7795 0.2814 0.7239 0.87 0.49 0.81 0.31 0.8046 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 -0.440321 NA NA 0.890647 0.348024 ID=COSM455423;OCCURENCE=2(breast) 0.594 NA 5.1016196 1150 1 47078637 47078637 T C exonic MOB3C NA synonymous SNV MOB3C:NM_145279:exon2:c.A513G:p.A171A,MOB3C:NM_201403:exon2:c.A357G:p.A119A exonic ENSG00000142961 NA synonymous SNV ENSG00000142961:ENST00000371940:exon1:c.A426G:p.A142A,ENSG00000142961:ENST00000271139:exon2:c.A513G:p.A171A,ENSG00000142961:ENST00000319928:exon2:c.A357G:p.A119A NA NA 1p33 Score=820;Name=V$SRF_Q6 NA NA NA rs4660947 0.64 0.64 0.6 0.673123 0.5 0.9583 0.5677 0.5779 0.7607 0.49 0.95 0.56 0.55 0.5853 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 0.119009 NA NA 0.479991 0.572694 NA 0.696 NA 5.1013756 1150 1 31215364 31215364 T C exonic LAPTM5 NA synonymous SNV LAPTM5:NM_006762:exon2:c.A120G:p.S40S exonic ENSG00000162511 NA synonymous SNV ENSG00000162511:ENST00000294507:exon2:c.A120G:p.S40S NA NA 1p35.2 NA Name=Pol2 NA NA rs1050663 0.61 0.61 0.583 0.604633 0.5258 0.6716 0.6873 0.6188 0.5389 0.53 0.69 0.66 0.61 0.552 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 -0.804789 NA NA 0.487674 0.592374 ID=COSM426058;OCCURENCE=1(breast) 0.616 NA 5.1011926 1150 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 1150 17 79612413 79612413 T C exonic TSPAN10 NA unknown UNKNOWN exonic ENSG00000182612 NA synonymous SNV ENSG00000182612:ENST00000328585:exon2:c.T432C:p.C144C Score=340;Name=lod=32 NA 17q25.3 NA NA NA NA rs7210043 0.63 0.63 0.588 0.669928 0.328 0.996 0.6354 0.6982 0.6718 0.34 1 0.57 0.68 0.5229 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.251339 NA NA 0.381595 0.61 NA 0.522 NA 5.1008383 1150 7 77756580 77756580 T C exonic MAGI2 NA synonymous SNV MAGI2:NM_012301:exon19:c.A3357G:p.L1119L exonic ENSG00000187391 NA synonymous SNV ENSG00000187391:ENST00000419488:exon18:c.A3315G:p.L1105L,ENSG00000187391:ENST00000354212:exon19:c.A3357G:p.L1119L,ENSG00000187391:ENST00000522391:exon19:c.A3357G:p.L1119L Score=503;Name=lod=147 NA 7q21.11 NA NA NA NA rs2074641 0.78 0.78 0.799 0.786542 0.8698 0.5714 0.7205 0.9228 0.7853 0.87 0.57 0.76 0.92 0.8248 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 1.073562 NA NA 0.871279 0.908761 NA 0.819 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117573.2;CLNDSDB=.;CLNDSDBID=. 5.1007876 1150 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 1150 6 37623626 37623626 C T exonic MDGA1 NA synonymous SNV MDGA1:NM_153487:exon4:c.G429A:p.V143V exonic ENSG00000112139 NA synonymous SNV ENSG00000112139:ENST00000297153:exon4:c.G429A:p.V143V,ENSG00000112139:ENST00000434837:exon4:c.G429A:p.V143V,ENSG00000112139:ENST00000505425:exon4:c.G429A:p.V143V,ENSG00000112139:ENST00000515437:exon4:c.G261A:p.V87V NA NA 6p21.2 NA NA NA NA rs13204070 0.15 0.15 0.156 0.135982 0.1988 0.1627 0.1499 0.0454 0.1564 0.19 0.17 0.18 0.04 0.1744 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 0.717618 NA NA 0.193938 0.068674 NA 0.109 NA 5.0995286 1150 3 132068831 132068831 C T exonic ACPP NA synonymous SNV ACPP:NM_001099:exon8:c.C849T:p.L283L,ACPP:NM_001134194:exon8:c.C849T:p.L283L exonic ENSG00000014257 NA synonymous SNV ENSG00000014257:ENST00000475741:exon7:c.C750T:p.L250L,ENSG00000014257:ENST00000336375:exon8:c.C849T:p.L283L,ENSG00000014257:ENST00000351273:exon8:c.C849T:p.L283L NA NA 3q22.1 Score=788;Name=V$PAX2_01 NA NA NA rs2228402 0.37 0.37 0.344 0.395567 0.5378 0.1171 0.4841 0.3585 0.5235 0.53 0.1 0.5 0.35 0.4712 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.29444 NA NA 0.558256 0.387199 NA 0.355 NA 5.0994106 1150 5 156482459 156482459 G T exonic HAVCR1 NA synonymous SNV HAVCR1:NM_012206:exon2:c.C132A:p.S44S,HAVCR1:NM_001099414:exon3:c.C132A:p.S44S,HAVCR1:NM_001173393:exon3:c.C132A:p.S44S exonic ENSG00000113249 NA synonymous SNV ENSG00000113249:ENST00000339252:exon2:c.C132A:p.S44S,ENSG00000113249:ENST00000425854:exon2:c.C132A:p.S44S,ENSG00000113249:ENST00000518745:exon3:c.C132A:p.S44S,ENSG00000113249:ENST00000522693:exon3:c.C132A:p.S44S,ENSG00000113249:ENST00000523175:exon3:c.C132A:p.S44S,ENSG00000113249:ENST00000544197:exon3:c.C132A:p.S44S Score=389;Name=lod=51 NA 5q33.3 Score=678;Name=V$BRACH_01 NA NA NA rs1809941 0.9 0.9 0.89 0.909145 0.839 0.9861 0.9179 0.8585 0.9642 0.84 0.99 0.91 0.87 0.8846 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122071 NA NA 0.844042 0.868848 NA 0.949 NA 5.0990246 1150 16 72991660 72991660 C G exonic ZFHX3 NA synonymous SNV ZFHX3:NM_006885:exon2:c.G2385C:p.P795P exonic ENSG00000140836 NA synonymous SNV ENSG00000140836:ENST00000268489:exon2:c.G2385C:p.P795P Score=563;Name=lod=260 NA 16q22.3 Score=894;Name=V$MZF1_02 NA NA NA rs10852515 0.79 0.79 0.755 0.770966 0.8708 0.6865 0.8991 0.7511 0.6912 0.86 0.68 0.89 0.74 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 -0.017091 NA NA 0.86186 0.785259 NA 0.768 NA 5.0981066 1150 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 1150 19 48806977 48806977 G A exonic CCDC114 NA synonymous SNV CCDC114:NM_144577:exon8:c.C807T:p.D269D exonic ENSG00000105479 NA synonymous SNV ENSG00000105479:ENST00000315396:exon8:c.C807T:p.D269D NA NA 19q13.33 NA NA NA NA rs2242463 0.17 0.17 0.193 0.153355 0.1998 0.126 0.0965 0.1354 0.1984 0.21 0.14 0.12 0.17 0.183 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.511181 NA NA 0.18593 0.165002 NA 0.188 NA 5.0979366 1150 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 1150 6 108233929 108233929 G A exonic SEC63 NA synonymous SNV SEC63:NM_007214:exon6:c.C564T:p.N188N exonic ENSG00000025796 NA synonymous SNV ENSG00000025796:ENST00000369002:exon6:c.C564T:p.N188N,ENSG00000025796:ENST00000429168:exon6:c.C396T:p.N132N Score=602;Name=lod=374 NA 6q21 NA NA NA NA rs675117 0.83 0.83 0.808 0.855032 0.8479 0.7113 0.902 0.9138 0.8978 0.84 0.68 0.9 0.92 0.8589 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 0.54885 NA NA 0.862674 0.900136 NA 0.862 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081500.1;CLNDSDB=.;CLNDSDBID=. 5.0971926 1150 13 111090924 111090924 G A intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA NA NA rs7984100 0.3 0.3 0.316 0.312899 0.325 0.1071 0.2997 0.5613 0.1861 0.31 0.09 0.3 0.55 0.2856 0.55 0.57 T . . . . 0.420 N 1.000 P . . . . -0.925 T 0.000 T . -0.702 0.965 -2.04 -0.693 -0.354 3.868 -0.702114 NA NA 0.29225 0.502277 NA 0.384 NA 5.09715 1150 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$PAX5_01 NA NA NA rs2073800 0.32 0.32 0.316 0.287939 0.5467 0.2698 0.2911 0.028 0.3896 0.55 0.27 0.32 0.05 0.4642 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.968791 NA NA 0.559008 0.115402 NA 0.362 NA 5.0967586 1150 3 138289163 138289163 T C exonic CEP70 NA synonymous SNV CEP70:NM_024491:exon6:c.A462G:p.L154L exonic ENSG00000114107 NA synonymous SNV ENSG00000114107:ENST00000462419:exon5:c.A402G:p.L134L,ENSG00000114107:ENST00000464035:exon5:c.A462G:p.L154L,ENSG00000114107:ENST00000468900:exon5:c.A399G:p.L133L,ENSG00000114107:ENST00000542237:exon5:c.A402G:p.L134L,ENSG00000114107:ENST00000264982:exon6:c.A462G:p.L154L,ENSG00000114107:ENST00000474781:exon6:c.A408G:p.L136L,ENSG00000114107:ENST00000481834:exon6:c.A462G:p.L154L,ENSG00000114107:ENST00000484888:exon6:c.A462G:p.L154L Score=561;Name=lod=255 NA 3q22.3 NA NA NA NA rs1673608 0.49 0.49 0.451 0.48123 0.505 0.5486 0.6412 0.236 0.6053 0.51 0.59 0.59 0.25 0.5376 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.06674 NA NA 0.527332 0.266122 NA 0.319 NA 5.0967346 1150 12 68715417 68715417 G A intronic MDM1 NA NA NA intronic ENSG00000111554 NA NA NA Score=529;Name=lod=189 NA 12q15 Score=825;Name=V$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 1150 7 27196069 27196069 A C exonic HOXA7 NA synonymous SNV HOXA7:NM_006896:exon1:c.T96G:p.A32A exonic ENSG00000122592 NA synonymous SNV ENSG00000122592:ENST00000242159:exon1:c.T96G:p.A32A Score=794;Name=lod=2245 NA 7p15.2 NA Name=TBP,GTF2F1_(RAP-74) NA NA rs2301720 0.79 0.79 0.794 0.768371 0.8648 0.8601 0.7349 0.5507 0.8926 0.86 0.86 0.75 0.63 0.8324 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 1.33789 1.33789 NA 0.872875 0.607273 NA 0.601 NA 5.0965916 1150 3 39227664 39227664 G A exonic XIRP1 NA synonymous SNV XIRP1:NM_001198621:exon2:c.C3273T:p.D1091D,XIRP1:NM_194293:exon2:c.C3273T:p.D1091D exonic ENSG00000168334 NA synonymous SNV ENSG00000168334:ENST00000340369:exon2:c.C3273T:p.D1091D,ENSG00000168334:ENST00000396251:exon2:c.C3273T:p.D1091D NA NA 3p22.2 NA NA NA NA rs61736155 0.11 0.11 0.098 0.100839 0.1988 0.0615 0.1023 0.0091 0.1636 0.21 0.08 0.11 0.01 0.1677 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.596487 NA NA 0.204117 0.042442 NA 0.109 NA 5.0960496 1150 14 22740245 22740245 A G intergenic OR4E2,DAD1 dist=606007;dist=293562 NA NA exonic ENSG00000211816 NA nonsynonymous SNV ENSG00000211816:ENST00000390464:exon2:c.A149G:p.N50S NA NA 14q11.2 Score=795;Name=V$CART1_01 NA NA NA rs2075501 0.34 0.34 0.344 0.345048 0.2286 0.4454 0.281 0.4584 0.2536 0.23 0.48 0.27 0.42 0.2758 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.692884 NA 1 0.23293 0.398114 NA 0.275 NA 5.0960034 1150 1 248551203 248551203 T C exonic OR2T6 NA synonymous SNV OR2T6:NM_001005471:exon1:c.T294C:p.T98T exonic ENSG00000198104 NA synonymous SNV ENSG00000198104:ENST00000355728:exon1:c.T294C:p.T98T NA NA 1q44 NA NA NA NA rs6700947 0.32 0.32 0.326 0.369409 0.1769 0.4365 0.3127 0.4962 0.3671 0.19 0.42 0.26 0.46 0.2432 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.019746 NA NA 0.150814 0.429641 NA 0.196 NA 5.0957526 1150 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 1150 6 127476516 127476516 G A exonic RSPO3 NA synonymous SNV RSPO3:NM_032784:exon4:c.G567A:p.L189L exonic ENSG00000146374 NA synonymous SNV ENSG00000146374:ENST00000356698:exon4:c.G567A:p.L189L,ENSG00000146374:ENST00000368317:exon4:c.G567A:p.L189L Score=605;Name=lod=382 NA 6q22.33 NA NA NA NA rs1892172 0.53 0.53 0.528 0.532748 0.5 0.494 0.5231 0.5983 0.5245 0.5 0.51 0.52 0.62 0.5383 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.889161 NA NA 0.532907 0.593282 ID=COSM1568095;OCCURENCE=1(large_intestine) 0.58 NA 5.0954596 1150 6 97052754 97052754 C T exonic FHL5 NA synonymous SNV FHL5:NM_001170807:exon3:c.C288T:p.N96N,FHL5:NM_020482:exon4:c.C288T:p.N96N exonic ENSG00000112214 NA synonymous SNV ENSG00000112214:ENST00000450218:exon3:c.C288T:p.N96N,ENSG00000112214:ENST00000541107:exon3:c.C288T:p.N96N,ENSG00000112214:ENST00000326771:exon4:c.C288T:p.N96N NA NA 6q16.1 NA NA NA NA rs2064947 0.14 0.14 0.15 0.136182 0.2117 0.0357 0.1801 0.1135 0.1616 0.2 0.04 0.21 0.13 0.1654 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066413 NA NA 0.194302 0.109623 NA 0.116 NA 5.0952646 1151 1 209933331 209933331 A G UTR5 TRAF3IP3 NM_025228:c.-54A>G NA NA UTR5 ENSG00000009790 ENST00000400959:c.-54A>G,ENST00000367025:c.-54A>G,ENST00000478359:c.-54A>G,ENST00000479796:c.-54A>G,ENST00000367026:c.-54A>G,ENST00000367024:c.-54A>G NA NA Score=499;Name=lod=142 NA 1q32.2 NA NA NA NA rs6685077 0.33 0.33 0.341 0.373203 0.2386 0.2133 0.2795 0.7443 0.2413 0.24 0.2 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 2.848694 2.848694 NA NA NA NA 0.435 NA 5.0947334 1151 6 158509750 158509750 A G exonic SYNJ2 NA synonymous SNV SYNJ2:NM_001178088:exon23:c.A2691G:p.G897G,SYNJ2:NM_003898:exon24:c.A3402G:p.G1134G exonic ENSG00000078269 NA synonymous SNV ENSG00000078269:ENST00000367112:exon7:c.A657G:p.G219G,ENSG00000078269:ENST00000367122:exon23:c.A3267G:p.G1089G,ENSG00000078269:ENST00000355585:exon24:c.A3402G:p.G1134G,ENSG00000078269:ENST00000367121:exon24:c.A3402G:p.G1134G Score=378;Name=lod=46 NA 6q25.3 Score=835;Name=V$OCT1_02 NA NA NA rs350289 0.77 0.77 0.802 0.804113 0.8718 0.6052 0.5908 0.9796 0.8538 0.86 0.57 0.65 0.97 0.8207 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 0.235256 NA NA 0.879767 0.956423 NA 0.855 NA 5.0943996 1151 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 1151 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=PU.1,NFKB 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 1151 19 43579642 43579642 A G exonic PSG2 NA synonymous SNV PSG2:NM_031246:exon3:c.T573C:p.H191H exonic ENSG00000242221 NA synonymous SNV ENSG00000242221:ENST00000406487:exon3:c.T573C:p.H191H NA NA 19q13.31 NA NA NA NA rs1803670 0.23 0.23 0.234 0.261382 0.165 0.0655 0.1729 0.5477 0.2382 0.17 0.06 0.21 0.55 0.2141 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726885 NA NA 0.193811 0.467302 NA 0.377 NA 5.0937556 1151 9 139418260 139418260 A G exonic NOTCH1 NA synonymous SNV NOTCH1:NM_017617:exon3:c.T312C:p.N104N exonic ENSG00000148400 NA synonymous SNV ENSG00000148400:ENST00000277541:exon3:c.T312C:p.N104N Score=374;Name=lod=44 NA 9q34.3 NA NA NA NA rs4489420 0.71 0.71 0.654 0.740016 0.505 0.8363 0.6037 0.9523 0.6922 0.51 0.84 0.59 0.94 0.597 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 -0.134921 NA NA 0.471149 0.880886 NA 0.623 NA 5.0935176 1151 5 96245343 96245343 C T exonic ERAP2 NA synonymous SNV ERAP2:NM_001130140:exon15:c.C2229T:p.G743G,ERAP2:NM_022350:exon15:c.C2229T:p.G743G exonic ENSG00000164308 NA synonymous SNV ENSG00000164308:ENST00000379904:exon14:c.C2094T:p.G698G,ENSG00000164308:ENST00000437043:exon15:c.C2229T:p.G743G Score=317;Name=lod=26 NA 5q15 NA NA NA NA rs2549796 0.52 0.52 0.493 0.504593 0.5189 0.5278 0.5692 0.4395 0.5082 0.52 0.58 0.57 0.4 0.533 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.04388 NA NA 0.521395 0.432592 NA 0.623 NA 5.0933716 1151 19 11332570 11332570 T A exonic DOCK6 NA synonymous SNV DOCK6:NM_020812:exon28:c.A3507T:p.L1169L exonic ENSG00000130158 NA synonymous SNV ENSG00000130158:ENST00000319867:exon14:c.A1524T:p.L508L,ENSG00000130158:ENST00000294618:exon28:c.A3507T:p.L1169L NA NA 19p13.2 NA NA NA NA rs3810307 0.3 0.3 0.304 0.313498 0.1431 0.2986 0.2579 0.5582 0.2127 0.13 0.3 0.25 0.58 0.2433 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.412401 NA NA 0.186952 0.484914 NA 0.37 NA 5.0933146 1151 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 1151 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 1151 8 22785159 22785159 G A exonic PEBP4 NA synonymous SNV PEBP4:NM_144962:exon2:c.C69T:p.D23D exonic ENSG00000134020 NA synonymous SNV ENSG00000134020:ENST00000256404:exon2:c.C69T:p.D23D,ENSG00000134020:ENST00000522278:exon2:c.C219T:p.D73D NA NA 8p21.3 NA NA NA NA rs2175192 0.16 0.16 0.147 0.169728 0.1889 0.1984 0.1455 0.0847 0.2526 0.19 0.17 0.18 0.11 0.1922 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 -0.205296 NA NA 0.194333 0.094955 NA 0.181 NA 5.0912336 1151 3 13379400 13379400 C T exonic NUP210 NA synonymous SNV NUP210:NM_024923:exon26:c.G3489A:p.E1163E exonic ENSG00000132182 NA synonymous SNV ENSG00000132182:ENST00000254508:exon26:c.G3489A:p.E1163E Score=431;Name=lod=75 NA 3p25.1 NA NA NA NA rs3773302 0.52 0.52 0.551 0.511382 0.5239 0.3333 0.4207 0.8026 0.3528 0.51 0.37 0.44 0.79 0.5085 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 -0.303031 NA NA 0.543372 0.745574 NA 0.674 NA 5.0908946 1151 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 1151 1 110086451 110086451 G A exonic GPR61 NA synonymous SNV GPR61:NM_031936:exon2:c.G807A:p.S269S exonic ENSG00000156097 NA synonymous SNV ENSG00000156097:ENST00000404129:exon2:c.G807A:p.S269S,ENSG00000156097:ENST00000469383:exon2:c.G807A:p.S269S,ENSG00000156097:ENST00000527748:exon2:c.G807A:p.S269S NA NA 1p13.3 NA NA NA NA rs17575798 0.21 0.21 0.226 0.216853 0.171 0.3621 0.1441 0.1142 0.3047 0.18 0.35 0.16 0.13 0.2084 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.982804 NA NA 0.196977 0.117847 NA 0.152 NA 5.0902896 1151 4 119718988 119718988 C T intronic SEC24D NA NA NA intronic ENSG00000150961 NA NA NA NA NA 4q26 NA Name=c-Fos Name=57 NA rs11730993 0.28 0.28 0.233 0.298922 0.2744 0.4365 0.4611 0.0552 0.3967 0.27 0.43 0.39 0.06 0.3352 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166427 NA NA 0.300233 0.096232 NA 0.333 NA 5.090167 1151 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 1151 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 1151 16 31488916 31488916 C G UTR3 TGFB1I1 NM_001042454:c.*19C>G,NM_001164719:c.*19C>G,NM_015927:c.*19C>G NA NA UTR3 ENSG00000140682 ENST00000567066:c.*1130C>G,ENST00000394863:c.*19C>G,ENST00000563712:c.*1076C>G,ENST00000361773:c.*19C>G,ENST00000394858:c.*19C>G,ENST00000567607:c.*19C>G,ENST00000564804:c.*921C>G NA NA NA NA 16p11.2 NA Name=ZBTB7A_(SC-34508),Pol2,ELF1_(SC-631),HEY1,TAF1 Name=22 NA rs10596 0.39 0.39 0.26 0.305112 0.4463 0.4494 0.5749 0.0514 0.1626 0.45 0.48 0.58 0.06 0.3992 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.927853 1.927853 NA 0.400585 0.103029 NA 0.312 NA 5.0872484 1151 16 10631912 10631912 C T exonic EMP2 NA synonymous SNV EMP2:NM_001424:exon4:c.G189A:p.A63A exonic ENSG00000213853 NA synonymous SNV ENSG00000213853:ENST00000359543:exon4:c.G189A:p.A63A,ENSG00000213853:ENST00000536829:exon4:c.G189A:p.A63A NA NA 16p13.13 NA NA NA NA rs2279868 0.23 0.23 0.223 0.272165 0.165 0.1984 0.2219 0.3555 0.3814 0.15 0.19 0.23 0.37 0.2239 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.550542 NA NA 0.190581 0.299272 NA 0.29 NA 5.0871856 1151 17 56271497 56271497 A G intronic EPX NA NA NA intronic ENSG00000121053 NA NA NA NA NA 17q22 NA Name=CTCF,Rad21 Name=3 NA rs10853004 0.21 0.21 0.194 0.218051 0.3082 0.0982 0.1844 0.2148 0.2771 0.32 0.08 0.18 0.22 0.291 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.452819 1.452819 NA 0.313767 0.245111 NA 0.109 NA 5.087033 1151 12 3950977 3950977 T C intronic PARP11 NA NA NA ncRNA_exonic ENSG00000118976 NA NA NA Score=635;Name=lod=508 NA 12p13.32 NA NA NA NA rs7295047 0.4 0.4 0.375 0.433906 0.2465 0.5774 0.4625 0.3684 0.547 0.25 0.55 0.44 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 0.773189 NA NA NA NA NA 0.326 NA 5.0868333 1151 3 53856653 53856653 C T exonic CHDH NA synonymous SNV CHDH:NM_018397:exon4:c.G720A:p.A240A exonic ENSG00000016391 NA synonymous SNV ENSG00000016391:ENST00000315251:exon4:c.G720A:p.A240A NA NA 3p21.1 Score=821;Name=V$GRE_C NA NA NA rs2241808 0.44 0.44 0.434 0.442692 0.5268 0.5655 0.4438 0.1581 0.6135 0.52 0.59 0.47 0.14 0.5053 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.183096 NA NA 0.548372 0.223786 NA 0.391 NA 5.0861946 1151 1 229738170 229738170 T G exonic TAF5L NA synonymous SNV TAF5L:NM_001025247:exon4:c.A744C:p.R248R,TAF5L:NM_014409:exon4:c.A744C:p.R248R exonic ENSG00000135801 NA synonymous SNV ENSG00000135801:ENST00000366676:exon3:c.A744C:p.R248R,ENSG00000135801:ENST00000258281:exon4:c.A744C:p.R248R,ENSG00000135801:ENST00000366675:exon4:c.A744C:p.R248R NA NA 1q42.13 Score=798;Name=V$HNF1_C NA NA NA rs3753886 0.6 0.6 0.591 0.573682 0.5179 0.7639 0.5447 0.4887 0.5706 0.51 0.81 0.56 0.52 0.5508 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 0.305467 NA NA 0.512442 0.509759 NA 0.522 NA 5.0855246 1151 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 1151 11 611802 611802 C G UTR3 PHRF1 NM_020901:c.*25C>G NA NA UTR3 ENSG00000070047 ENST00000264555:c.*25C>G,ENST00000534320:c.*324C>G,ENST00000416188:c.*25C>G,ENST00000413872:c.*25C>G,ENST00000533464:c.*25C>G NA NA NA NA 11p15.5 NA Name=Pol2,Pol2-4H8,Egr-1 NA NA rs17155933 0.04 0.04 0.029 0.0259585 0.0845 0.002 0.0389 0.0015 0.0143 0.09 NA 0.05 0.0041 0.0771 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 0.081293 NA NA 0.086414 0.015247 NA NA NA 5.0853194 1152 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 1152 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 1152 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 1152 2 233410294 233410294 C T exonic CHRNG NA synonymous SNV CHRNG:NM_005199:exon12:c.C1422T:p.R474R exonic ENSG00000196811 NA synonymous SNV ENSG00000196811:ENST00000389492:exon11:c.C1266T:p.R422R,ENSG00000196811:ENST00000389494:exon12:c.C1422T:p.R474R NA NA 2q37.1 NA NA NA NA rs2099489 0.14 0.14 0.147 0.151957 0.1928 0.1181 0.134 0.1051 0.2209 0.19 0.11 0.14 0.1 0.1869 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.117304 NA NA 0.202791 0.125057 NA 0.196 NA 5.0841756 1152 17 76528591 76528591 C T exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon20:c.G3087A:p.P1029P exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon20:c.G3087A:p.P1029P,ENSG00000187775:ENST00000585328:exon20:c.G3078A:p.P1026P NA NA 17q25.3 Score=844;Name=V$RREB1_01 NA NA NA rs11868065 0.48 0.48 0.476 0.460663 0.5348 0.4167 0.4193 0.5008 0.4049 0.55 0.41 0.46 0.46 0.5101 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.948313 NA NA 0.537754 0.50291 NA 0.449 NA 5.0840126 1152 21 42845383 42845383 A G exonic TMPRSS2 NA synonymous SNV TMPRSS2:NM_001135099:exon9:c.T879C:p.I293I,TMPRSS2:NM_005656:exon9:c.T768C:p.I256I exonic ENSG00000184012 NA synonymous SNV ENSG00000184012:ENST00000424093:exon8:c.T648C:p.I216I,ENSG00000184012:ENST00000332149:exon9:c.T768C:p.I256I,ENSG00000184012:ENST00000398585:exon9:c.T879C:p.I293I,ENSG00000184012:ENST00000458356:exon9:c.T768C:p.I256I,ENSG00000184012:ENST00000454499:exon10:c.T768C:p.I256I NA NA 21q22.3 Score=851;Name=V$MRF2_01 NA NA NA rs17854725 0.37 0.37 0.346 0.366214 0.5417 0.121 0.4107 0.3389 0.4438 0.55 0.15 0.4 0.33 0.4967 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391091 NA NA 0.544393 0.392759 ID=COSM1483964,COSM444511,COSM444510;OCCURENCE=2(breast) 0.413 NA 5.0838736 1152 1 217671771 217671771 C G intronic GPATCH2 NA NA NA intronic ENSG00000092978 NA NA NA NA NA 1q41 NA Name=Max Name=4 NA rs724803 0.24 0.24 0.225 0.226038 0.3072 0.1567 0.3084 0.1422 0.2689 0.3 0.17 0.36 0.15 0.2867 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212289 NA NA 0.322674 0.164775 NA 0.355 NA 5.083426 1152 15 75980112 75980112 A G exonic CSPG4 NA synonymous SNV CSPG4:NM_001897:exon3:c.T3294C:p.A1098A exonic ENSG00000173546 NA synonymous SNV ENSG00000173546:ENST00000308508:exon3:c.T3294C:p.A1098A NA NA 15q24.2 Score=844;Name=V$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 1152 10 1046712 1046712 G A exonic GTPBP4 NA synonymous SNV GTPBP4:NM_012341:exon7:c.G750A:p.A250A exonic ENSG00000107937 NA synonymous SNV ENSG00000107937:ENST00000538293:exon6:c.G402A:p.A134A,ENSG00000107937:ENST00000360803:exon7:c.G750A:p.A250A,ENSG00000107937:ENST00000545048:exon7:c.G609A:p.A203A NA NA 10p15.3 NA Name=Pol2-4H8 NA NA rs2306409 0.53 0.53 0.526 0.530152 0.5199 0.6111 0.5447 0.407 0.6135 0.53 0.63 0.55 0.41 0.5375 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.063088 NA NA 0.527907 0.434862 NA 0.471 NA 5.0813596 1152 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 1152 3 46755937 46755937 C T exonic PRSS50 NA synonymous SNV PRSS50:NM_013270:exon4:c.G525A:p.T175T exonic ENSG00000206549 NA synonymous SNV ENSG00000206549:ENST00000315170:exon4:c.G525A:p.T175T,ENSG00000206549:ENST00000460241:exon9:c.G525A:p.T175T NA NA 3p21.31 NA NA NA NA rs12492868 0.32 0.32 0.321 0.383387 0.162 0.2708 0.2939 0.705 0.3558 0.17 0.24 0.27 0.67 0.2773 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 1.252014 1.252014 NA 0.146279 0.575352 NA 0.413 NA 5.0810876 1152 5 150666933 150666933 C A exonic SLC36A3 NA synonymous SNV SLC36A3:NM_181774:exon6:c.G582T:p.L194L,SLC36A3:NM_001145017:exon7:c.G705T:p.L235L exonic ENSG00000186334 NA synonymous SNV ENSG00000186334:ENST00000335230:exon6:c.G582T:p.L194L,ENSG00000186334:ENST00000377713:exon7:c.G705T:p.L235L NA NA 5q33.1 NA NA NA NA rs375396 0.25 0.25 0.256 0.252995 0.1809 0.4474 0.1455 0.1997 0.2751 0.18 0.49 0.18 0.16 0.2227 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.692603 NA NA 0.182093 0.186564 NA 0.297 NA 5.0809736 1152 18 47455923 47455923 C T exonic MYO5B NA synonymous SNV MYO5B:NM_001080467:exon17:c.G2049A:p.V683V exonic ENSG00000167306 NA synonymous SNV ENSG00000167306:ENST00000285039:exon17:c.G2049A:p.V683V Score=433;Name=lod=77 NA 18q21.1 NA NA NA NA rs2298628 0.42 0.42 0.426 0.411342 0.5507 0.2688 0.3948 0.3782 0.4714 0.54 0.27 0.44 0.41 0.4831 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.832041 NA NA 0.552008 0.431464 NA 0.42 NA 5.0808586 1152 10 124066652 124066652 G A intronic BTBD16 NA NA NA intronic ENSG00000138152 NA NA NA NA NA 10q26.13 NA Name=FOXA1_(C-20),FOXA1_(SC-101058) Name=3 NA rs7082865 0.66 0.66 0.668 0.652356 0.4573 0.8819 0.5908 0.7383 0.544 0.47 0.88 0.58 0.76 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 -0.854943 NA NA 0.462041 0.678857 NA 0.638 NA 5.080659 1152 15 85401259 85401259 C T exonic ALPK3 NA nonsynonymous SNV ALPK3:NM_020778:exon6:c.C3896T:p.P1299L exonic ENSG00000136383 NA nonsynonymous SNV ENSG00000136383:ENST00000258888:exon6:c.C3896T:p.P1299L NA NA 15q25.3 NA NA NA NA rs306197 0.8 0.8 0.806 0.804712 0.7425 0.8591 0.6974 0.8994 0.7607 0.74 0.84 0.73 0.89 0.7644 0.89 0.76 T 0.0 B 0.0 B 0.000 N 1.000 P -0.695 N 0.36 T -0.979 T 0.000 T 0.04 -0.489 1.751 1.91 -0.023 -0.613 6.756 -0.489358 NA 0.2 0.746793 0.871865 ID=COSM1478428,COSM434463;OCCURENCE=2(breast) 0.826 NA 5.0796404 1152 16 77389956 77389956 A G exonic ADAMTS18 NA synonymous SNV ADAMTS18:NM_199355:exon9:c.T1341C:p.D447D exonic ENSG00000140873 NA synonymous SNV ENSG00000140873:ENST00000282849:exon9:c.T1341C:p.D447D Score=343;Name=lod=33 NA 16q23.1 Score=798;Name=V$BACH1_01 NA NA NA rs8059275 0.88 0.88 0.902 0.882188 0.8549 0.8968 0.866 0.9047 0.8763 0.86 0.89 0.88 0.91 0.8643 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 -0.8208 NA NA 0.868023 0.887853 NA 0.906 NA 5.0794436 1152 19 41119273 41119273 G C intronic LTBP4 NA NA NA intronic ENSG00000090006 NA NA NA NA NA 19q13.2 NA Name=IRF1,SP1,Egr-1,TBP,USF-1,Pol2,Pol2-4H8,TAF1 Name=55 NA rs12611045 0.31 0.31 0.286 0.357228 0.2932 0.3998 0.2464 0.3283 0.4969 0.3 0.35 0.22 0.34 0.3373 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.977746 NA NA 0.29011 0.288227 NA 0.261 NA 5.07939 1152 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 1152 19 56565127 56565127 G A exonic NLRP5 NA synonymous SNV NLRP5:NM_153447:exon13:c.G3252A:p.A1084A exonic ENSG00000171487 NA synonymous SNV ENSG00000171487:ENST00000390649:exon13:c.G3252A:p.A1084A NA NA 19q13.43 NA NA NA NA rs392801 0.11 0.11 0.111 0.0926518 0.2286 0.0149 0.1052 0.0272 0.1125 0.23 0.01 0.12 0.04 0.1531 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098166 NA NA 0.206015 0.046749 NA 0.181 NA 5.0789516 1152 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 1152 19 1036552 1036552 T C exonic CNN2 NA synonymous SNV CNN2:NM_201277:exon5:c.T528C:p.C176C,CNN2:NM_004368:exon6:c.T645C:p.C215C exonic ENSG00000064666 NA synonymous SNV ENSG00000064666:ENST00000348419:exon5:c.T528C:p.C176C,ENSG00000064666:ENST00000562075:exon5:c.T339C:p.C113C,ENSG00000064666:ENST00000568865:exon5:c.T516C:p.C172C,ENSG00000064666:ENST00000263097:exon6:c.T645C:p.C215C,ENSG00000064666:ENST00000562958:exon6:c.T708C:p.C236C,ENSG00000064666:ENST00000565096:exon6:c.T612C:p.C204C Score=544;Name=lod=217 NA 19p13.3 NA Name=Pol2-4H8,PAX5-N19,PAX5-C20 NA NA rs2304262 0.85 0.85 0.827 0.832069 0.8618 0.8393 0.8963 0.761 0.8446 0.87 0.86 0.9 0.77 0.8521 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 0.155328 NA NA 0.874302 0.763504 NA 0.891 NA 5.0784646 1152 5 96232142 96232142 T A exonic ERAP2 NA synonymous SNV ERAP2:NM_001130140:exon8:c.T1305A:p.P435P,ERAP2:NM_022350:exon8:c.T1305A:p.P435P exonic ENSG00000164308 NA synonymous SNV ENSG00000164308:ENST00000379904:exon7:c.T1170A:p.P390P,ENSG00000164308:ENST00000437043:exon8:c.T1305A:p.P435P,ENSG00000164308:ENST00000510373:exon8:c.T1305A:p.P435P,ENSG00000164308:ENST00000513084:exon8:c.T1305A:p.P435P NA NA 5q15 NA NA Name=18 NA rs2548538 0.55 0.55 0.528 0.552716 0.5199 0.5278 0.5793 0.6014 0.5276 0.52 0.58 0.59 0.55 0.5479 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.961693 NA NA 0.521163 0.579437 NA 0.659 NA 5.0777036 1152 3 9959713 9959713 C T exonic IL17RC NA synonymous SNV IL17RC:NM_001203263:exon3:c.C234T:p.T78T,IL17RC:NM_001203264:exon3:c.C234T:p.T78T,IL17RC:NM_001203265:exon3:c.C234T:p.T78T,IL17RC:NM_032732:exon3:c.C234T:p.T78T,IL17RC:NM_153460:exon3:c.C234T:p.T78T,IL17RC:NM_153461:exon3:c.C447T:p.T149T exonic ENSG00000163702 NA synonymous SNV ENSG00000163702:ENST00000295981:exon3:c.C447T:p.T149T,ENSG00000163702:ENST00000383812:exon3:c.C234T:p.T78T,ENSG00000163702:ENST00000403601:exon3:c.C234T:p.T78T,ENSG00000163702:ENST00000412901:exon3:c.C234T:p.T78T,ENSG00000163702:ENST00000413608:exon3:c.C234T:p.T78T,ENSG00000163702:ENST00000424206:exon3:c.C234T:p.T78T,ENSG00000163702:ENST00000434756:exon3:c.C234T:p.T78T,ENSG00000163702:ENST00000436503:exon3:c.C234T:p.T78T,ENSG00000163702:ENST00000438091:exon3:c.C234T:p.T78T,ENSG00000163702:ENST00000440502:exon3:c.C234T:p.T78T,ENSG00000163702:ENST00000451231:exon3:c.C234T:p.T78T,ENSG00000163702:ENST00000455057:exon3:c.C234T:p.T78T NA NA 3p25.3 NA NA NA NA rs4686383 0.09 0.09 0.09 0.076278 0.1869 0.0149 0.1196 0.0091 0.0859 0.19 0.01 0.13 0.01 0.1945 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.026302 NA NA 0.207791 0.046322 NA 0.029 NA 5.0774756 1152 4 113199075 113199075 A G exonic TIFA NA synonymous SNV TIFA:NM_052864:exon2:c.T498C:p.Y166Y exonic ENSG00000145365 NA synonymous SNV ENSG00000145365:ENST00000361717:exon2:c.T498C:p.Y166Y,ENSG00000145365:ENST00000500655:exon2:c.T498C:p.Y166Y NA NA 4q25 NA NA Name=5 NA rs701759 0.68 0.68 0.69 0.65016 0.508 0.751 0.634 0.8926 0.3763 0.49 0.78 0.6 0.89 0.5586 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 0.143043 NA NA 0.522674 0.839083 NA 0.659 NA 5.0773926 1152 20 1538266 1538266 G A exonic SIRPD NA synonymous SNV SIRPD:NM_178460:exon1:c.C34T:p.L12L exonic ENSG00000125900,ENSG00000260861 NA synonymous SNV ENSG00000125900:ENST00000381621:exon1:c.C34T:p.L12L,ENSG00000125900:ENST00000381623:exon1:c.C34T:p.L12L NA NA 20p13 NA NA NA NA rs11697395 0.11 0.11 0.107 0.0950479 0.2167 0.003 0.1023 0.0575 0.1104 0.22 0.0035 0.13 0.05 0.1688 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.428392 NA NA 0.204186 0.08965 NA 0.167 NA 5.0769806 1152 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 1152 1 228612838 228612838 G T exonic HIST3H3 NA synonymous SNV HIST3H3:NM_003493:exon1:c.C189A:p.I63I exonic ENSG00000168148 NA synonymous SNV ENSG00000168148:ENST00000366696:exon1:c.C189A:p.I63I Score=489;Name=lod=130 NA 1q42.13 NA Name=Pol2-4H8,Pol2 NA NA rs2230656 0.7 0.7 0.665 0.690296 0.8847 0.6895 0.8977 0.3116 0.8558 0.89 0.66 0.88 0.32 0.8208 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 -0.556567 NA NA 0.885233 0.417158 NA 0.725 NA 5.0759336 1152 9 34372931 34372931 T A exonic KIAA1161 NA unknown UNKNOWN UTR5 ENSG00000164976 ENST00000297625:c.-92A>T NA NA NA NA 9p13.3 NA Name=FOXA1_(C-20) NA NA rs2297776 0.14 0.14 0.128 0.142372 0.2087 0.0933 0.17 0.0408 0.2423 0.21 0.11 0.18 0.03 0.1829 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.186139 NA NA 0.199395 0.071059 NA 0.188 NA 5.0756717 1152 1 231042732 231042732 T A exonic TTC13 NA synonymous SNV TTC13:NM_001122835:exon21:c.A2340T:p.V780V,TTC13:NM_024525:exon23:c.A2502T:p.V834V exonic ENSG00000143643 NA synonymous SNV ENSG00000143643:ENST00000366662:exon21:c.A2340T:p.V780V,ENSG00000143643:ENST00000414259:exon21:c.A2343T:p.V781V,ENSG00000143643:ENST00000366661:exon23:c.A2502T:p.V834V Score=448;Name=lod=88 NA 1q42.2 NA NA NA NA rs3811502 0.53 0.53 0.516 0.515575 0.5338 0.5446 0.6556 0.4198 0.4969 0.54 0.55 0.61 0.44 0.5364 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.809579 NA NA 0.52093 0.406037 NA 0.551 NA 5.0755366 1152 6 24583804 24583804 T A intronic KIAA0319 NA NA NA intronic ENSG00000137261 NA NA NA NA NA 6p22.3 NA Name=Rad21,YY1_(C-20),CTCFL_(SC-98982),SMC3_(ab9263),CTCF,CTCF_(SC-5916),Znf143_(16618-1-AP),CTCF_(C-20),RFX5_(N-494) 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 1152 1 26662904 26662904 C T intronic AIM1L NA NA NA intronic ENSG00000176092 NA NA NA NA NA 1p36.11 NA Name=Pol2,ZNF263,Pol2-4H8 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 1153 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 1153 16 4934564 4934564 C G exonic PPL NA synonymous SNV PPL:NM_002705:exon22:c.G4092C:p.L1364L exonic ENSG00000118898 NA synonymous SNV ENSG00000118898:ENST00000592772:exon10:c.G2355C:p.L785L,ENSG00000118898:ENST00000345988:exon22:c.G4092C:p.L1364L,ENSG00000118898:ENST00000590782:exon22:c.G4086C:p.L1362L Score=325;Name=lod=28 NA 16p13.3 NA NA NA NA rs1049207 0.46 0.46 0.437 0.420727 0.5308 0.6478 0.4697 0.1014 0.4703 0.54 0.65 0.46 0.1 0.5077 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.415314 NA NA 0.553372 0.156577 NA 0.471 NA 5.0747946 1153 10 105218252 105218252 A G exonic CALHM1 NA nonsynonymous SNV CALHM1:NM_001001412:exon1:c.T257C:p.L86P exonic ENSG00000185933 NA nonsynonymous SNV ENSG00000185933:ENST00000329905:exon1:c.T257C:p.L86P NA NA 10q24.33 NA NA NA NA rs2986017 0.85 0.85 0.849 0.872005 0.7406 0.8849 0.8343 0.9705 0.8875 0.74 0.92 0.81 0.97 0.7882 0.97 0.4 T 0.0 B 0.0 B 0.525 N 1.000 P -0.14 N 2.2 T -1.055 T 0.000 T 0.065 0.244 5.316 1.38 -0.216 0.117 4.797 0.243591 NA 0.22 0.729865 0.92617 NA 0.428 NA 5.0746684 1153 19 2116649 2116649 A G exonic AP3D1 NA synonymous SNV AP3D1:NM_001261826:exon17:c.T1956C:p.R652R,AP3D1:NM_003938:exon17:c.T1956C:p.R652R exonic ENSG00000065000 NA synonymous SNV ENSG00000065000:ENST00000350812:exon12:c.T1449C:p.R483R,ENSG00000065000:ENST00000356926:exon16:c.T1683C:p.R561R,ENSG00000065000:ENST00000345016:exon17:c.T1956C:p.R652R,ENSG00000065000:ENST00000355272:exon17:c.T1956C:p.R652R NA NA 19p13.3 NA NA NA NA rs2074960 0.17 0.17 0.134 0.163339 0.17 0.1944 0.1311 0.1301 0.1922 0.16 0.2 0.15 0.15 0.2282 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62979 NA NA 0.194865 0.134506 NA 0.123 NA 5.0736016 1153 19 2917612 2917612 T C exonic ZNF57 NA synonymous SNV ZNF57:NM_173480:exon4:c.T993C:p.T331T exonic ENSG00000171970 NA synonymous SNV ENSG00000171970:ENST00000306908:exon4:c.T993C:p.T331T,ENSG00000171970:ENST00000523428:exon4:c.T897C:p.T299T Score=321;Name=lod=27 NA 19p13.3 NA Name=SETDB1,KAP1 NA NA rs10410539 0.8 0.8 0.799 0.784944 0.8807 0.7083 0.8458 0.7284 0.7986 0.88 0.74 0.85 0.7 0.8408 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 -0.05273 NA NA 0.871628 0.746709 ID=COSM1392307;OCCURENCE=1(large_intestine) 0.833 NA 5.0735386 1153 2 33500848 33500848 A G intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA Name=FOXA1_(C-20),FOSL2,FOXA1_(SC-101058),c-Jun,GABP,ELF1_(SC-631),TCF4,c-Fos,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 1153 15 65369951 65369951 A G exonic KBTBD13 NA synonymous SNV KBTBD13:NM_001101362:exon1:c.A798G:p.E266E exonic ENSG00000234438 NA synonymous SNV ENSG00000234438:ENST00000432196:exon1:c.A798G:p.E266E Score=397;Name=lod=55 NA 15q22.31 NA NA NA NA rs2919359 0.89 0.89 0.869 0.903754 0.8439 0.9831 0.866 0.9107 0.9008 0.84 0.98 0.84 0.91 0.8853 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 -0.728296 NA NA 0.864348 0.916239 NA 0.268 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117312.1;CLNDSDB=.;CLNDSDBID=. 5.0731186 1153 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 1153 3 30713126 30713126 T A intronic TGFBR2 NA NA NA intronic ENSG00000163513 NA NA NA NA NA 3p24.1 Score=847;Name=V$MRF2_01 NA NA NA rs11466512 0.31 0.31 0.281 0.271965 0.326 0.3264 0.4222 0.1407 0.2311 0.33 0.34 0.44 0.16 0.2928 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.654152 NA NA 0.308256 0.152519 ID=COSM149346;OCCURENCE=1(stomach) 0.239 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000037737.1|RCV000125485.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.072944 1153 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 1153 7 31682853 31682853 T C exonic CCDC129 NA synonymous SNV CCDC129:NM_194300:exon10:c.T1869C:p.S623S,CCDC129:NM_001257968:exon11:c.T1947C:p.S649S,CCDC129:NM_001257967:exon12:c.T1899C:p.S633S exonic ENSG00000180347 NA synonymous SNV ENSG00000180347:ENST00000409210:exon9:c.T1593C:p.S531S,ENSG00000180347:ENST00000319386:exon11:c.T1425C:p.S475S,ENSG00000180347:ENST00000407970:exon11:c.T1869C:p.S623S,ENSG00000180347:ENST00000451887:exon11:c.T1947C:p.S649S NA NA 7p14.3 NA NA NA NA rs38397 0.12 0.12 0.096 0.135783 0.2177 0.1786 0.1556 0.0182 0.1524 0.21 0.1 0.13 0.01 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 0.143213 NA NA 0.201047 0.050386 NA 0.21 NA 5.0728196 1153 7 31682601 31682601 T C exonic CCDC129 NA synonymous SNV CCDC129:NM_194300:exon10:c.T1617C:p.H539H,CCDC129:NM_001257968:exon11:c.T1695C:p.H565H,CCDC129:NM_001257967:exon12:c.T1647C:p.H549H exonic ENSG00000180347 NA synonymous SNV ENSG00000180347:ENST00000409210:exon9:c.T1341C:p.H447H,ENSG00000180347:ENST00000319386:exon11:c.T1173C:p.H391H,ENSG00000180347:ENST00000407970:exon11:c.T1617C:p.H539H,ENSG00000180347:ENST00000451887:exon11:c.T1695C:p.H565H NA NA 7p14.3 NA NA NA NA rs38396 0.12 0.12 0.103 0.136182 0.2177 0.1806 0.1556 0.0182 0.1524 0.21 0.1 0.13 0.01 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 0.083998 NA NA 0.201163 0.050386 NA 0.21 NA 5.0727036 1153 10 104229785 104229785 C T exonic TMEM180 NA synonymous SNV TMEM180:NM_024789:exon4:c.C204T:p.P68P exonic ENSG00000138111 NA synonymous SNV ENSG00000138111:ENST00000238936:exon4:c.C204T:p.P68P,ENSG00000138111:ENST00000369931:exon4:c.C204T:p.P68P Score=612;Name=lod=408 NA 10q24.32 NA NA NA NA rs41306870 0.42 0.42 0.401 0.410144 0.5636 0.3075 0.366 0.3722 0.4407 0.56 0.28 0.41 0.37 0.4778 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.589749 2.589749 NA 0.553256 0.379029 NA 0.457 NA 5.0720106 1153 12 78225186 78225186 C A UTR5 NAV3 NM_014903:c.-56C>A NA NA UTR5 ENSG00000067798 ENST00000549464:c.-56C>A,ENST00000266692:c.-56C>A,ENST00000228327:c.-56C>A,ENST00000397909:c.-56C>A,ENST00000536525:c.-56C>A NA NA Score=701;Name=lod=944 NA 12q21.2 NA NA NA NA rs17195772 0.16 0.16 0.134 0.150559 0.2614 0.0258 0.2579 0.084 0.1789 0.24 0.03 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 2.08718 2.08718 NA NA NA NA 0.116 NA 5.0719334 1153 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 1153 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 1153 X 30326983 30326983 C T exonic NR0B1 NA synonymous SNV NR0B1:NM_000475:exon1:c.G498A:p.R166R exonic ENSG00000169297 NA synonymous SNV ENSG00000169297:ENST00000378970:exon1:c.G498A:p.R166R,ENSG00000169297:ENST00000453287:exon1:c.G498A:p.R166R NA NA Xp21.2 NA NA NA NA rs2269345 0.41 0.41 0.4221 NA NA NA NA NA NA 0.17 0.73 0.37 0.45 0.3984 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 -1.22648 NA NA 0.19678 0.433883 NA 0.29 NA 5.0714866 1153 1 76198436 76198436 T C intronic ACADM NA NA NA intronic ENSG00000117054 NA NA NA NA NA 1p31.1 NA NA Name=18 NA rs2275378 0.24 0.24 0.218 0.23123 0.3241 0.0228 0.3256 0.2874 0.2076 0.3 0.02 0.34 0.33 0.274 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.18684 3.18684 NA 0.330698 0.292007 NA 0.232 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000077883.1|RCV000123473.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.071202 1153 1 93646207 93646207 T C UTR5 TMED5 NM_001167830:c.-408A>G,NM_016040:c.-408A>G NA NA exonic ENSG00000122483 NA synonymous SNV ENSG00000122483:ENST00000557479:exon1:c.T120C:p.L40L NA NA 1p22.1 NA Name=YY1,GABP,Pol2-4H8,TAF1,HMGN3,Znf143_(16618-1-AP),AP-2gamma,CCNT2,ATF3,E2F1,NF-YA,ELF1_(SC-631),KAP1,HEY1,ETS1,c-Myc,Nrf1,SP1,IRF1,CHD2_(N-1250),SRF,HA-E2F1,TCF4,Max,Pol2,YY1_(C-20),USF-1,Pol2(phosphoS2),Mxi1_(bHLH),CTCF,Sin3Ak-20,E2F4,SIX5 Name=148 NA rs2297707 0.54 0.54 0.498 0.515176 0.6551 0.6438 0.6009 0.1324 0.6953 0.66 0.66 0.61 0.15 0.6157 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 0.718018 NA NA 0.658185 0.24382 NA 0.275 NA 5.071015 1153 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 1153 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 1153 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 1153 15 31342744 31342744 C T exonic TRPM1 NA synonymous SNV TRPM1:NM_001252020:exon11:c.G1356A:p.T452T,TRPM1:NM_002420:exon11:c.G1239A:p.T413T,TRPM1:NM_001252024:exon12:c.G1305A:p.T435T exonic ENSG00000134160 NA synonymous SNV ENSG00000134160:ENST00000558768:exon9:c.G1011A:p.T337T,ENSG00000134160:ENST00000397795:exon11:c.G1239A:p.T413T,ENSG00000134160:ENST00000542188:exon11:c.G1356A:p.T452T,ENSG00000134160:ENST00000558445:exon11:c.G1239A:p.T413T,ENSG00000134160:ENST00000256552:exon12:c.G1305A:p.T435T NA NA 15q13.3 NA Name=PU.1,IRF1 NA NA rs1035705 0.56 0.56 0.498 0.519169 0.5179 0.9435 0.621 0.1566 0.501 0.5 0.94 0.58 0.2 0.5419 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 -1.007816 NA NA 0.537095 0.230057 NA 0.457 NA 5.0697716 1153 19 6375831 6375831 G A exonic PSPN NA synonymous SNV PSPN:NM_004158:exon1:c.C30T:p.S10S exonic ENSG00000125650 NA synonymous SNV ENSG00000125650:ENST00000245810:exon1:c.C30T:p.S10S,ENSG00000125650:ENST00000597721:exon1:c.C30T:p.S10S NA NA 19p13.3 NA NA NA NA rs2304198 0.4 0.4 0.398 0.440096 0.1789 0.3889 0.2032 0.8744 0.3425 0.16 0.41 0.19 0.89 0.2559 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 0.133602 NA NA 0.162209 0.756468 ID=COSM1397244;OCCURENCE=1(large_intestine) 0.297 NA 5.0696576 1153 12 52284483 52284483 A G exonic ANKRD33 NA synonymous SNV ANKRD33:NM_001130015:exon5:c.A378G:p.Q126Q,ANKRD33:NM_182608:exon5:c.A753G:p.Q251Q exonic ENSG00000167612 NA synonymous SNV ENSG00000167612:ENST00000538991:exon4:c.A171G:p.Q57Q,ENSG00000167612:ENST00000301190:exon5:c.A753G:p.Q251Q,ENSG00000167612:ENST00000340970:exon5:c.A378G:p.Q126Q NA NA 12q13.13 NA NA NA NA rs7303030 0.12 0.12 0.122 0.105032 0.2197 0.0069 0.1153 0.0908 0.1002 0.23 0.0017 0.13 0.09 0.1651 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.82571 NA NA 0.212326 0.094644 NA 0.174 NA 5.0695406 1153 17 41959808 41959808 T C exonic MPP2 NA synonymous SNV MPP2:NM_005374:exon6:c.A525G:p.Q175Q exonic ENSG00000108852 NA synonymous SNV ENSG00000108852:ENST00000377184:exon5:c.A576G:p.Q192Q,ENSG00000108852:ENST00000520305:exon5:c.A108G:p.Q36Q,ENSG00000108852:ENST00000523220:exon5:c.A474G:p.Q158Q,ENSG00000108852:ENST00000523501:exon5:c.A492G:p.Q164Q,ENSG00000108852:ENST00000536246:exon5:c.A492G:p.Q164Q,ENSG00000108852:ENST00000269095:exon6:c.A525G:p.Q175Q,ENSG00000108852:ENST00000518766:exon6:c.A660G:p.Q220Q,ENSG00000108852:ENST00000461854:exon7:c.A597G:p.Q199Q Score=497;Name=lod=140 NA 17q21.31 Score=863;Name=V$NFE2_01 NA NA NA rs124721 0.92 0.92 0.905 0.920927 0.8439 1 0.9294 0.9251 0.907 0.85 1 0.9 0.93 0.8908 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.39312 1.39312 NA 0.862907 0.906718 NA 0.587 NA 5.0690596 1153 17 77042718 77042718 C T exonic C1QTNF1 NA synonymous SNV C1QTNF1:NM_030968:exon3:c.C237T:p.P79P,C1QTNF1:NM_153372:exon3:c.C237T:p.P79P,C1QTNF1:NM_198593:exon3:c.C237T:p.P79P exonic ENSG00000173918 NA synonymous SNV ENSG00000173918:ENST00000580474:exon2:c.C237T:p.P79P,ENSG00000173918:ENST00000354124:exon3:c.C267T:p.P89P,ENSG00000173918:ENST00000392445:exon3:c.C237T:p.P79P,ENSG00000173918:ENST00000579760:exon3:c.C237T:p.P79P,ENSG00000173918:ENST00000581774:exon3:c.C237T:p.P79P,ENSG00000173918:ENST00000583904:exon3:c.C237T:p.P79P,ENSG00000173918:ENST00000339142:exon4:c.C237T:p.P79P,ENSG00000173918:ENST00000580454:exon4:c.C237T:p.P79P NA NA 17q25.3 NA NA NA NA rs11077409 0.3 0.3 0.274 0.325679 0.17 0.5704 0.3732 0.2254 0.3354 0.17 0.56 0.32 0.19 0.2526 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.929832 NA NA 0.175116 0.191557 NA 0.239 NA 5.0689506 1153 14 21109278 21109278 A T exonic OR6S1 NA synonymous SNV OR6S1:NM_001001968:exon1:c.T573A:p.A191A exonic ENSG00000181803 NA synonymous SNV ENSG00000181803:ENST00000320704:exon1:c.T573A:p.A191A Score=431;Name=lod=75 NA 14q11.2 NA NA NA NA rs11627438 0.46 0.46 0.441 0.452476 0.5338 0.251 0.5461 0.4902 0.4591 0.53 0.27 0.59 0.47 0.5079 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.224041 NA NA 0.556163 0.512256 ID=COSM432810;OCCURENCE=1(breast) 0.377 NA 5.0688036 1153 17 77040128 77040128 T C exonic C1QTNF1 NA synonymous SNV C1QTNF1:NM_030968:exon2:c.T78C:p.R26R,C1QTNF1:NM_153372:exon2:c.T78C:p.R26R,C1QTNF1:NM_198593:exon2:c.T78C:p.R26R exonic ENSG00000173918 NA synonymous SNV ENSG00000173918:ENST00000580474:exon1:c.T78C:p.R26R,ENSG00000173918:ENST00000354124:exon2:c.T108C:p.R36R,ENSG00000173918:ENST00000392445:exon2:c.T78C:p.R26R,ENSG00000173918:ENST00000579760:exon2:c.T78C:p.R26R,ENSG00000173918:ENST00000581774:exon2:c.T78C:p.R26R,ENSG00000173918:ENST00000583904:exon2:c.T78C:p.R26R,ENSG00000173918:ENST00000339142:exon3:c.T78C:p.R26R,ENSG00000173918:ENST00000580454:exon3:c.T78C:p.R26R NA NA 17q25.3 NA NA NA NA rs4789922 0.3 0.3 0.242 0.317292 0.165 0.5248 0.3732 0.239 0.3262 0.18 0.51 0.31 0.21 0.2561 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.926633 NA NA 0.177093 0.225148 NA 0.232 NA 5.0684736 1153 19 4852106 4852106 A G exonic PLIN3 NA synonymous SNV PLIN3:NM_001164189:exon5:c.T556C:p.L186L,PLIN3:NM_001164194:exon5:c.T520C:p.L174L,PLIN3:NM_005817:exon5:c.T556C:p.L186L exonic ENSG00000105355 NA synonymous SNV ENSG00000105355:ENST00000589034:exon4:c.T463C:p.L155L,ENSG00000105355:ENST00000221957:exon5:c.T556C:p.L186L,ENSG00000105355:ENST00000585479:exon5:c.T556C:p.L186L,ENSG00000105355:ENST00000592528:exon5:c.T520C:p.L174L Score=457;Name=lod=96 NA 19p13.3 Score=936;Name=V$TAL1ALPHAE47_01 NA NA NA rs2271058 0.89 0.89 0.89 0.879792 0.8767 0.8938 0.9179 0.8638 0.863 0.88 0.89 0.93 0.88 0.8686 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.042417 NA NA 0.853372 0.87517 ID=COSM1162401;OCCURENCE=1(pancreas) 0.899 NA 5.0679946 1153 13 25419176 25419176 A G exonic RNF17 NA synonymous SNV RNF17:NM_001184993:exon22:c.A3060G:p.T1020T,RNF17:NM_031277:exon22:c.A3060G:p.T1020T exonic ENSG00000132972 NA synonymous SNV ENSG00000132972:ENST00000339524:exon3:c.A216G:p.T72T,ENSG00000132972:ENST00000418120:exon9:c.A1032G:p.T344T,ENSG00000132972:ENST00000255324:exon22:c.A3060G:p.T1020T,ENSG00000132972:ENST00000381921:exon22:c.A3060G:p.T1020T Score=562;Name=lod=256 NA 13q12.12 Score=905;Name=V$SOX9_B1 NA NA NA rs6490984 0.85 0.85 0.854 0.864217 0.8678 0.8353 0.8343 0.8487 0.9325 0.86 0.85 0.86 0.84 0.8671 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 0.951104 NA NA 0.863837 0.856332 NA 0.906 NA 5.0679296 1153 1 167839578 167839578 G A exonic ADCY10 NA synonymous SNV ADCY10:NM_001167749:exon11:c.C1074T:p.V358V,ADCY10:NM_018417:exon14:c.C1533T:p.V511V exonic ENSG00000143199 NA synonymous SNV ENSG00000143199:ENST00000545172:exon11:c.C1074T:p.V358V,ENSG00000143199:ENST00000367848:exon14:c.C1257T:p.V419V,ENSG00000143199:ENST00000367851:exon14:c.C1533T:p.V511V NA NA 1q24.2 NA NA NA NA rs67878347 0.15 0.15 0.135 0.125599 0.2068 0.126 0.2161 0.0356 0.0992 0.21 0.14 0.18 0.05 0.1856 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.976915 NA NA 0.206395 0.072855 ID=COSM1559273;OCCURENCE=1(central_nervous_system) 0.167 NA 5.0678716 1153 15 78273788 78273788 A G intergenic LOC645752,LOC91450 dist=54600;dist=11787 NA NA ncRNA_exonic ENSG00000261143 NA NA NA Score=596;Name=lod=352 NA 15q24.3 Score=819;Name=V$RFX1_02 NA NA NA rs11072715 0.88 0.88 0.851 0.831869 0.9324 0.9752 0.8991 0.6921 0.7219 0.93 0.97 0.85 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 0.234544 NA NA NA NA NA 0.797 NA 5.0676 1153 8 110465060 110465060 G C exonic PKHD1L1 NA synonymous SNV PKHD1L1:NM_177531:exon43:c.G6621C:p.L2207L exonic ENSG00000205038 NA synonymous SNV ENSG00000205038:ENST00000378402:exon43:c.G6621C:p.L2207L Score=429;Name=lod=74 NA 8q23.1 NA NA NA NA rs1673404 0.48 0.48 0.43 0.500599 0.503 0.4028 0.6196 0.3858 0.6697 0.5 0.43 0.6 0.41 0.5767 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091068 NA NA 0.519642 0.426689 NA 0.543 NA 5.0673246 1153 22 50879447 50879447 T G exonic PPP6R2 NA synonymous SNV PPP6R2:NM_001242899:exon21:c.T2493G:p.A831A,PPP6R2:NM_001242900:exon21:c.T2493G:p.A831A,PPP6R2:NM_014678:exon21:c.T2490G:p.A830A,PPP6R2:NM_001242898:exon22:c.T2571G:p.A857A exonic ENSG00000100239 NA synonymous SNV ENSG00000100239:ENST00000359139:exon21:c.T2493G:p.A831A,ENSG00000100239:ENST00000395741:exon21:c.T2493G:p.A831A,ENSG00000100239:ENST00000395744:exon21:c.T2490G:p.A830A,ENSG00000100239:ENST00000216061:exon23:c.T2592G:p.A864A NA NA 22q13.33 NA NA NA NA rs2273260 0.19 0.19 0.145 0.167931 0.1909 0.252 0.2248 0.1021 0.1063 0.18 0.26 0.2 0.1 0.2387 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.92748 1.92748 NA 0.170286 0.106944 NA 0.109 NA 5.0667806 1153 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 1153 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 1153 7 148801337 148801337 T C exonic ZNF425 NA synonymous SNV ZNF425:NM_001001661:exon4:c.A1626G:p.T542T exonic ENSG00000204947 NA synonymous SNV ENSG00000204947:ENST00000378061:exon4:c.A1626G:p.T542T NA NA 7q36.1 NA NA NA NA rs12704061 0.2 0.2 0.209 0.213059 0.2197 0.0923 0.17 0.3843 0.1299 0.2 0.09 0.16 0.37 0.1857 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234152 NA NA 0.19458 0.350204 NA 0.159 NA 5.0666866 1153 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 1153 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 1153 19 1074000 1074000 A T exonic HMHA1 NA nonsynonymous SNV HMHA1:NM_001258328:exon6:c.A825T:p.E275D,HMHA1:NM_012292:exon6:c.A777T:p.E259D exonic ENSG00000180448 NA nonsynonymous SNV ENSG00000180448:ENST00000536472:exon5:c.A297T:p.E99D,ENSG00000180448:ENST00000543365:exon5:c.A426T:p.E142D,ENSG00000180448:ENST00000313093:exon6:c.A777T:p.E259D,ENSG00000180448:ENST00000539243:exon6:c.A825T:p.E275D,ENSG00000180448:ENST00000586866:exon6:c.A789T:p.E263D,ENSG00000180448:ENST00000590214:exon6:c.A858T:p.E286D NA NA 19p13.3 NA NA NA NA rs2074442 0.78 0.78 0.776 0.776558 0.7256 0.6498 0.8415 0.9455 0.6851 0.73 0.69 0.82 0.93 0.7901 0.93 0.74 T 0.004 B 0.003 B 0.733 N 0.962 P 1.78 L 2.06 T -0.946 T 0.000 T 0.07 0.061 4.331 -1.37 -0.361 -0.697 2.021 0.060861 NA 0.43 0.751048 0.908512 NA 0.804 NA 5.0665854 1153 12 120114507 120114507 G T intronic PRKAB1 NA NA NA intronic ENSG00000111725 NA NA NA NA NA 12q24.23 NA Name=CTCF Name=9 NA rs278149 0.26 0.26 0.286 0.266973 0.325 0.0099 0.2262 0.4992 0.1871 0.32 0.01 0.23 0.46 0.2782 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.015782 NA NA 0.330349 0.460962 NA 0.355 NA 5.066451 1153 19 18234441 18234441 C T exonic MAST3 NA synonymous SNV MAST3:NM_015016:exon7:c.C522T:p.H174H exonic ENSG00000099308 NA synonymous SNV ENSG00000099308:ENST00000262811:exon7:c.C522T:p.H174H NA NA 19p13.11 NA NA Name=7 NA rs740691 0.54 0.54 0.505 0.564497 0.504 0.6706 0.5331 0.4425 0.7045 0.5 0.69 0.54 0.42 0.5637 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 -0.259747 NA NA 0.53264 0.481604 NA 0.507 NA 5.0663266 1153 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 1153 2 71162996 71162996 A G upstream ATP6V1B1 NA NA NA upstream ENSG00000116039 NA NA NA NA NA 2p13.3 NA Name=FOXA2_(SC-6554) Name=9 NA rs11685700 0.56 0.56 0.532 0.530351 0.6004 0.5466 0.5101 0.4955 0.5031 0.59 0.57 0.55 0.51 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 -0.305574 NA NA NA NA NA 0.37 NA 5.0662666 1153 3 134266321 134266321 A G intronic CEP63 NA NA NA intronic ENSG00000182923 NA NA NA Score=512;Name=lod=161 NA 3q22.2 NA NA NA NA rs11927068 0.28 0.28 0.305 0.276757 0.3082 0.1687 0.2089 0.3555 0.2975 0.3 0.18 0.25 0.37 0.2986 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303492 NA NA 0.327093 0.360418 ID=COSM149477;OCCURENCE=1(stomach) 0.384 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116678.1;CLNDSDB=.;CLNDSDBID=. 5.066107 1153 6 155606325 155606325 C T exonic TFB1M NA synonymous SNV TFB1M:NM_016020:exon5:c.G633A:p.T211T exonic ENSG00000029639 NA synonymous SNV ENSG00000029639:ENST00000367166:exon5:c.G633A:p.T211T NA NA 6q25.3 Score=849;Name=V$STAT5B_01 NA NA NA rs324356 0.67 0.67 0.655 0.671925 0.5328 0.8333 0.7104 0.6846 0.6043 0.52 0.83 0.67 0.69 0.5722 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 0.65303 NA NA 0.496395 0.656832 NA 0.645 NA 5.0652716 1154 1 20304926 20304926 G A exonic PLA2G2A NA synonymous SNV PLA2G2A:NM_001161728:exon3:c.C132T:p.Y44Y,PLA2G2A:NM_001161729:exon3:c.C132T:p.Y44Y,PLA2G2A:NM_000300:exon4:c.C132T:p.Y44Y,PLA2G2A:NM_001161727:exon4:c.C132T:p.Y44Y exonic ENSG00000188257 NA synonymous SNV ENSG00000188257:ENST00000400520:exon3:c.C132T:p.Y44Y,ENSG00000188257:ENST00000375111:exon4:c.C132T:p.Y44Y NA NA 1p36.13 NA NA NA NA rs4744 0.12 0.12 0.109 0.105831 0.2078 0.0268 0.1052 0.0968 0.0951 0.2 0.02 0.12 0.12 0.1848 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076932 NA NA 0.209167 0.098956 ID=COSM1132970;OCCURENCE=1(central_nervous_system) 0.101 NA 5.0648996 1154 17 73127217 73127217 G C intronic NT5C NA NA NA intronic ENSG00000125458 NA NA NA NA NA 17q25.1 NA Name=ZBTB7A_(SC-34508),Egr-1,Mxi1_(bHLH),Sin3Ak-20,Pol2-4H8,TAF1,HA-E2F1,Pol2,Pol2(phosphoS2) Name=137 NA rs3736075 0.37 0.37 0.297 0.331869 0.328 0.6538 0.3905 0.152 0.2055 0.32 0.67 0.36 0.13 0.3168 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 0.221697 NA NA 0.290533 0.169923 NA 0.196 NA 5.064667 1154 19 8151261 8151261 C T intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA Name=HMGN3,ETS1,ELF1_(SC-631),FOXA1_(SC-101058),FOXA1_(C-20),FOSL2,E2F6_(H-50),p300,HDAC2_(SC-6296),ZBTB7A_(SC-34508),HNF4A_(H-171),CEBPB,Egr-1,ELK4,SP1,FOXA2_(SC-6554),Max,Mxi1_(bHLH),ERalpha_a,RXRA,eGFP-JunD Name=28 NA rs11665747 0.17 0.17 0.188 0.147364 0.333 0.0675 0.1787 0.0356 0.1677 0.32 0.08 0.19 0.05 0.253 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.490838 NA NA 0.349434 0.079148 NA 0.036 NA 5.064566 1154 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 1154 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 1154 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$BACH1_01 NA NA NA rs3904512 0.35 0.35 0.371 0.363019 0.4205 0.2183 0.3329 0.4304 0.3834 0.41 0.23 0.36 0.4 0.404 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.886452 2.886452 NA 0.445452 0.434862 NA 0.406 NA 5.0633814 1154 13 50296115 50296115 C T exonic KPNA3 NA synonymous SNV KPNA3:NM_002267:exon9:c.G702A:p.P234P exonic ENSG00000102753 NA synonymous SNV ENSG00000102753:ENST00000261667:exon9:c.G702A:p.P234P Score=785;Name=lod=2057 NA 13q14.2 Score=962;Name=V$ZIC3_01 NA NA NA rs1127021 0.88 0.88 0.862 0.8752 0.8569 0.999 0.8804 0.7534 0.9274 0.87 1 0.87 0.77 0.878 1 NA NA 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 0.868721 0.773037 NA 0.935 NA 5.0630456 1154 16 4815602 4815602 T C exonic ZNF500 NA synonymous SNV ZNF500:NM_021646:exon2:c.A378G:p.E126E exonic ENSG00000103199 NA synonymous SNV ENSG00000103199:ENST00000589422:exon1:c.A378G:p.E126E,ENSG00000103199:ENST00000219478:exon2:c.A378G:p.E126E,ENSG00000103199:ENST00000545009:exon2:c.A378G:p.E126E Score=527;Name=lod=185 NA 16p13.3 NA NA NA NA rs12919587 0.43 0.43 0.411 0.491014 0.504 0.4177 0.4755 0.3389 0.7699 0.5 0.42 0.43 0.33 0.5554 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.367961 1.367961 NA 0.544302 0.379153 NA 0.319 NA 5.0629646 1154 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 1154 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 1154 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 1154 11 129793305 129793305 A G intronic PRDM10 NA NA NA intronic ENSG00000170325 NA NA NA NA NA 11q24.3 NA Name=CTCF_(C-20),NFKB,Znf143_(16618-1-AP),GATA-1,FOXA1_(C-20),USF-1,POU2F2,CTCF,E2F6_(H-50),SMC3_(ab9263),Oct-2,Rad21,TAL1_(SC-12984),Max,YY1_(C-20),Sin3Ak-20,GATA3_(SC-268) Name=140 NA rs2241573 0.28 0.28 0.292 0.272764 0.3161 0.2579 0.183 0.298 0.273 0.33 0.28 0.22 0.25 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 0.451164 NA NA 0.312311 0.304861 NA 0.319 NA 5.062289 1154 12 25054891 25054891 G A intronic BCAT1 NA NA NA intronic ENSG00000060982 NA NA NA Score=321;Name=lod=27 NA 12p12.1 NA Name=Pol2(b) Name=8 NA rs2291894 0.61 0.61 0.596 0.624002 0.6402 0.5665 0.6585 0.6225 0.6442 0.63 0.58 0.66 0.59 0.6483 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 0.44194 NA NA 0.649674 0.612443 NA 0.572 NA 5.061826 1154 5 131995843 131995843 T C intronic IL13 NA NA NA ncRNA_intronic ENSG00000223442 NA NA NA NA Name=Atopic dermatitis,Asthma 5q31.1 NA Name=NFKB,EBF Name=8 NA rs1295686 0.61 0.61 0.583 0.578075 0.7863 0.6438 0.5562 0.2852 0.7076 0.77 0.67 0.6 0.3 0.6857 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 0.000685 NA NA 0.799535 0.358375 NA 0.529 NA 5.0617983 1154 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$TATA_01 NA NA NA rs2307046 0.82 0.82 0.814 0.805112 0.8698 0.7669 0.8516 0.7088 0.8753 0.87 0.8 0.84 0.75 0.8534 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.293525 1.293525 NA 0.881794 0.7384 NA 0.841 NA 5.0616726 1154 6 146755842 146755842 C A exonic GRM1 NA synonymous SNV GRM1:NM_000838:exon9:c.C3495A:p.P1165P exonic ENSG00000152822 NA synonymous SNV ENSG00000152822:ENST00000282753:exon8:c.C3495A:p.P1165P,ENSG00000152822:ENST00000361719:exon9:c.C3495A:p.P1165P NA NA 6q24.3 NA NA NA NA rs9373491 0.56 0.56 0.565 0.592652 0.5457 0.5466 0.4726 0.6997 0.6288 0.54 0.53 0.48 0.69 0.5277 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.503478 NA NA 0.531984 0.680682 NA 0.551 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117208.2;CLNDSDB=.;CLNDSDBID=. 5.0612826 1154 15 78189084 78189084 T C intergenic LOC253044,LOC645752 dist=247503;dist=17475 NA NA ncRNA_exonic ENSG00000260139 NA NA NA Score=355;Name=lod=37 NA 15q24.3 Score=804;Name=V$GFI1_01 NA NA NA rs4243062 0.84 0.84 0.856 0.796126 0.9394 0.8681 0.7478 0.7269 0.7025 0.94 0.85 0.81 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 -0.465701 NA NA NA NA NA 0.855 NA 5.0606 1154 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$TCF11_01 NA NA NA rs562350 0.67 0.67 0.654 0.678315 0.4831 0.8254 0.572 0.8533 0.5665 0.5 0.82 0.57 0.81 0.5875 0.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.495281 NA NA 0.536628 0.796414 ID=COSM1132566;OCCURENCE=1(liver),1(prostate) 0.667 NA 5.0594386 1154 9 137982127 137982127 T C exonic OLFM1 NA synonymous SNV OLFM1:NM_006334:exon2:c.T183C:p.A61A,OLFM1:NM_014279:exon2:c.T183C:p.A61A exonic ENSG00000130558 NA synonymous SNV ENSG00000130558:ENST00000252854:exon2:c.T183C:p.A61A,ENSG00000130558:ENST00000277415:exon2:c.T183C:p.A61A,ENSG00000130558:ENST00000339720:exon2:c.T204C:p.A68A,ENSG00000130558:ENST00000371793:exon2:c.T237C:p.A79A,ENSG00000130558:ENST00000371796:exon2:c.T156C:p.A52A,ENSG00000130558:ENST00000392991:exon2:c.T237C:p.A79A Score=722;Name=lod=1144 NA 9q34.3 Score=834;Name=V$SREBP1_02 NA NA NA rs500461 0.79 0.79 0.816 0.782348 0.8797 0.6806 0.6268 0.8843 0.7597 0.87 0.65 0.7 0.89 0.8303 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 1.679466 1.679466 NA 0.897674 0.882206 NA 0.819 NA 5.0589926 1154 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 1154 14 21109671 21109671 A G exonic OR6S1 NA synonymous SNV OR6S1:NM_001001968:exon1:c.T180C:p.P60P exonic ENSG00000181803 NA synonymous SNV ENSG00000181803:ENST00000320704:exon1:c.T180C:p.P60P Score=487;Name=lod=127 NA 14q11.2 NA NA NA NA rs11627574 0.47 0.47 0.465 0.461062 0.5378 0.2897 0.5461 0.4902 0.4591 0.54 0.32 0.59 0.47 0.5124 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467246 NA NA 0.558721 0.512256 NA 0.377 NA 5.0577456 1154 17 7132556 7132556 C T exonic DVL2 NA synonymous SNV DVL2:NM_004422:exon8:c.G855A:p.Q285Q exonic ENSG00000004975 NA synonymous SNV ENSG00000004975:ENST00000005340:exon8:c.G855A:p.Q285Q,ENSG00000004975:ENST00000574143:exon8:c.G657A:p.Q219Q,ENSG00000004975:ENST00000575458:exon8:c.G837A:p.Q279Q,ENSG00000004975:ENST00000575756:exon8:c.G843A:p.Q281Q Score=605;Name=lod=382 NA 17p13.1 NA NA NA NA rs222837 0.63 0.63 0.648 0.655152 0.5229 0.6359 0.5591 0.8487 0.6176 0.5 0.65 0.59 0.86 0.5769 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 0.982136 NA NA 0.509186 0.804131 NA 0.696 NA 5.0576806 1154 2 120199140 120199140 A G exonic SCTR NA synonymous SNV SCTR:NM_002980:exon12:c.T1176C:p.N392N exonic ENSG00000080293 NA synonymous SNV ENSG00000080293:ENST00000019103:exon12:c.T1176C:p.N392N Score=531;Name=lod=192 NA 2q14.2 Score=890;Name=V$YY1_01 NA NA NA rs1126839 0.88 0.88 0.876 0.871006 0.8738 0.9107 0.8271 0.8389 0.9018 0.88 0.91 0.85 0.85 0.864 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 0.805349 NA NA 0.871395 0.837494 NA 0.797 NA 5.0574716 1154 19 53100323 53100323 A G ncRNA_exonic ZNF137P NA NA NA ncRNA_exonic ENSG00000123870 NA NA NA Score=304;Name=lod=23 NA 19q13.41 NA NA NA NA rs7250630 0.16 0.16 0.166 0.16274 0.2038 0.0159 0.1455 0.2844 0.1196 0.2 0.01 0.17 0.27 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 0.266003 NA 0 0.222196 0.245343 NA 0.203 NA 5.0570706 1154 11 73675857 73675857 T C intronic DNAJB13 NA NA NA ncRNA_intronic ENSG00000255847 NA NA NA NA NA 11q13.4 NA Name=Pol2 NA NA rs28393876 NA NA NA 0.372204 0.2763 0.3313 0.2089 0.5968 0.3252 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 -0.239967 NA NA NA NA NA 0.007 NA 5.0570333 1154 6 101094554 101094554 A G exonic ASCC3 NA synonymous SNV ASCC3:NM_006828:exon22:c.T3570C:p.P1190P exonic ENSG00000112249 NA synonymous SNV ENSG00000112249:ENST00000369162:exon22:c.T3570C:p.P1190P Score=679;Name=lod=766 NA 6q16.3 NA NA NA NA rs239239 0.61 0.61 0.594 0.571286 0.5408 0.7302 0.6153 0.6006 0.3681 0.56 0.75 0.58 0.55 0.5419 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 0.906164 NA NA 0.527907 0.590558 NA 0.601 NA 5.0560596 1154 17 26817537 26817537 G A exonic SLC13A2 NA synonymous SNV SLC13A2:NM_001145975:exon3:c.G444A:p.A148A,SLC13A2:NM_003984:exon3:c.G297A:p.A99A exonic ENSG00000007216 NA synonymous SNV ENSG00000007216:ENST00000545060:exon2:c.G168A:p.A56A,ENSG00000007216:ENST00000314669:exon3:c.G297A:p.A99A,ENSG00000007216:ENST00000444914:exon3:c.G444A:p.A148A,ENSG00000007216:ENST00000537681:exon5:c.G84A:p.A28A NA NA 17q11.2 NA NA NA NA rs11568466 0.16 0.16 0.152 0.153754 0.2137 0.0446 0.1628 0.1679 0.1789 0.21 0.06 0.17 0.17 0.1869 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.550446 NA NA 0.210349 0.159328 NA 0.116 NA 5.0557176 1154 19 1912934 1912934 T C exonic ADAT3 NA synonymous SNV ADAT3:NM_138422:exon2:c.T888C:p.T296T exonic ENSG00000213638 NA synonymous SNV ENSG00000213638:ENST00000329478:exon2:c.T888C:p.T296T,ENSG00000213638:ENST00000602400:exon2:c.T840C:p.T280T NA NA 19p13.3 NA NA NA NA rs12984675 0.35 0.35 0.288 0.363219 0.2048 0.4038 0.4193 0.4803 0.2863 0.21 0.42 0.38 0.48 0.2555 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.149044 NA NA 0.15071 0.432531 NA 0.261 NA 5.0556566 1154 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 1155 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 1155 9 90588903 90588903 C T exonic CDK20 NA synonymous SNV CDK20:NM_001039803:exon2:c.G123A:p.E41E,CDK20:NM_001170639:exon2:c.G123A:p.E41E,CDK20:NM_001170640:exon2:c.G123A:p.E41E,CDK20:NM_012119:exon2:c.G123A:p.E41E,CDK20:NM_178432:exon2:c.G162A:p.E54E exonic ENSG00000156345 NA synonymous SNV ENSG00000156345:ENST00000325303:exon2:c.G123A:p.E41E,ENSG00000156345:ENST00000336654:exon2:c.G162A:p.E54E,ENSG00000156345:ENST00000375871:exon2:c.G123A:p.E41E,ENSG00000156345:ENST00000375883:exon2:c.G123A:p.E41E,ENSG00000156345:ENST00000605159:exon2:c.G123A:p.E41E Score=643;Name=lod=546 NA 9q22.1 NA NA Name=7 NA rs665983 0.6 0.6 0.62 0.670327 0.9006 0.3095 0.6931 0.6437 0.8252 0.81 0.29 0.72 0.57 0.8049 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 0.217095 NA NA 0.907791 0.659782 NA 0.761 NA 5.0533756 1155 1 31898234 31898234 T C exonic SERINC2 NA synonymous SNV SERINC2:NM_001199037:exon4:c.T462C:p.I154I,SERINC2:NM_018565:exon4:c.T462C:p.I154I,SERINC2:NM_178865:exon4:c.T450C:p.I150I,SERINC2:NM_001199038:exon5:c.T477C:p.I159I,SERINC2:NM_001199039:exon5:c.T285C:p.I95I exonic ENSG00000168528 NA synonymous SNV ENSG00000168528:ENST00000373709:exon4:c.T450C:p.I150I,ENSG00000168528:ENST00000536384:exon4:c.T462C:p.I154I,ENSG00000168528:ENST00000536859:exon4:c.T462C:p.I154I,ENSG00000168528:ENST00000373710:exon5:c.T477C:p.I159I Score=499;Name=lod=142 NA 1p35.2 NA NA NA NA rs4949402 0.39 0.39 0.361 0.35004 0.5596 0.3591 0.4496 0.1452 0.3313 0.55 0.35 0.47 0.15 0.4862 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.340203 1.340203 NA 0.567558 0.231276 NA 0.341 NA 5.0533086 1155 14 74523949 74523949 G A exonic CCDC176 NA synonymous SNV CCDC176:NM_025057:exon11:c.G1566A:p.Q522Q exonic ENSG00000119636 NA synonymous SNV ENSG00000119636:ENST00000492247:exon3:c.G198A:p.Q66Q,ENSG00000119636:ENST00000553773:exon9:c.G741A:p.Q247Q,ENSG00000119636:ENST00000394009:exon11:c.G1566A:p.Q522Q NA NA 14q24.3 NA NA NA NA rs3742808 0.23 0.23 0.239 0.300519 0.1909 0.2381 0.1801 0.3555 0.4888 0.19 0.24 0.18 0.34 0.2355 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.172305 NA NA 0.187907 0.336586 NA 0.297 NA 5.0523596 1155 11 614864 614864 C T exonic IRF7 NA synonymous SNV IRF7:NM_004031:exon2:c.G366A:p.R122R,IRF7:NM_001572:exon4:c.G327A:p.R109R,IRF7:NM_004029:exon4:c.G327A:p.R109R exonic ENSG00000185507 NA synonymous SNV ENSG00000185507:ENST00000397566:exon2:c.G366A:p.R122R,ENSG00000185507:ENST00000330243:exon3:c.G366A:p.R122R,ENSG00000185507:ENST00000348655:exon3:c.G327A:p.R109R,ENSG00000185507:ENST00000469048:exon3:c.G327A:p.R109R,ENSG00000185507:ENST00000525445:exon3:c.G9A:p.R3R,ENSG00000185507:ENST00000532788:exon3:c.G366A:p.R122R,ENSG00000185507:ENST00000397570:exon4:c.G327A:p.R109R,ENSG00000185507:ENST00000397574:exon4:c.G327A:p.R109R,ENSG00000185507:ENST00000532326:exon4:c.G327A:p.R109R,ENSG00000185507:ENST00000533182:exon4:c.G327A:p.R109R NA NA 11p15.5 NA Name=Pol2-4H8 Name=31 NA rs1061501 0.82 0.82 0.813 0.816693 0.8748 0.749 0.7954 0.8525 0.7935 0.87 0.74 0.83 0.83 0.8608 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 -0.226897 NA NA 0.878749 0.852474 NA 0.819 NA 5.0523176 1155 7 16666759 16666759 G C exonic ANKMY2 NA synonymous SNV ANKMY2:NM_020319:exon3:c.C177G:p.L59L exonic ENSG00000106524 NA synonymous SNV ENSG00000106524:ENST00000306999:exon3:c.C177G:p.L59L,ENSG00000106524:ENST00000447802:exon3:c.C177G:p.L59L NA NA 7p21.1 NA NA NA NA rs11531477 0.18 0.18 0.175 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 0.822592 NA NA 0.213372 0.094871 NA 0.101 NA 5.0521946 1155 6 31514247 31514247 A G ncRNA_intronic ATP6V1G2-DDX39B NA NA NA intronic ENSG00000213760,ENSG00000254870 NA NA NA NA NA 6p21.33 NA Name=ZNF263,KAP1 NA NA rs9267488 0.07 0.07 0.072 0.0638978 0.0825 0.0526 0.0288 0.1014 0.0307 0.08 0.05 0.03 0.09 0.0867 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 1.16013 NA NA 0.112558 0.11507 NA 0.123 NA 5.0515753 1155 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 1155 11 1262907 1262907 T C exonic MUC5B NA synonymous SNV MUC5B:NM_002458:exon31:c.T4797C:p.S1599S exonic ENSG00000117983 NA synonymous SNV ENSG00000117983:ENST00000447027:exon31:c.T4806C:p.S1602S,ENSG00000117983:ENST00000529681:exon31:c.T4797C:p.S1599S NA NA 11p15.5 NA NA NA NA rs2037089 0.2 0.2 0.196 0.204673 0.2078 0.0615 0.2709 0.2685 0.2157 0.22 0.08 0.26 0.25 0.2194 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457119 NA NA 0.188847 0.264249 NA 0.21 NA 5.0506196 1155 7 131815310 131815310 A G exonic PLXNA4 NA synonymous SNV PLXNA4:NM_020911:exon32:c.T5613C:p.D1871D exonic ENSG00000221866 NA synonymous SNV ENSG00000221866:ENST00000321063:exon32:c.T5613C:p.D1871D,ENSG00000221866:ENST00000359827:exon32:c.T5613C:p.D1871D NA NA 7q32.3 Score=948;Name=V$TCF11_01 NA Name=30 NA rs2671103 0.9 0.9 0.884 0.898962 0.8688 0.9296 0.9207 0.8585 0.9376 0.88 0.94 0.92 0.85 0.8878 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 0.657685 NA NA 0.859548 0.86783 NA 0.862 NA 5.0505186 1155 11 607175 607175 G A exonic PHRF1 NA synonymous SNV PHRF1:NM_020901:exon14:c.G1716A:p.P572P exonic ENSG00000070047 NA synonymous SNV ENSG00000070047:ENST00000264555:exon14:c.G1719A:p.P573P,ENSG00000070047:ENST00000413872:exon14:c.G1713A:p.P571P,ENSG00000070047:ENST00000416188:exon14:c.G1716A:p.P572P,ENSG00000070047:ENST00000533464:exon14:c.G1707A:p.P569P,ENSG00000070047:ENST00000534320:exon14:c.G1719A:p.P573P NA NA 11p15.5 NA NA NA NA rs936468 0.16 0.16 0.136 0.131589 0.2048 0.0179 0.2305 0.1475 0.0818 0.2 0.01 0.25 0.18 0.1806 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.203611 NA NA 0.230825 0.16837 ID=COSM429377,COSM429376;OCCURENCE=1(breast) 0.167 NA 5.0504416 1155 10 28228865 28228865 A G exonic ARMC4 NA synonymous SNV ARMC4:NM_018076:exon14:c.T2058C:p.N686N exonic ENSG00000169126 NA synonymous SNV ENSG00000169126:ENST00000545014:exon7:c.T633C:p.N211N,ENSG00000169126:ENST00000537576:exon9:c.T1134C:p.N378N,ENSG00000169126:ENST00000305242:exon14:c.T2058C:p.N686N Score=391;Name=lod=52 NA 10p12.1 NA NA NA NA rs7893462 0.54 0.54 0.525 0.533147 0.5477 0.5 0.5764 0.469 0.6084 0.54 0.51 0.56 0.54 0.5364 0.56 NA NA 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 0.532326 0.460735 NA 0.609 NA 5.0502406 1155 16 21190853 21190853 A C exonic TMEM159 NA nonsynonymous SNV TMEM159:NM_020422:exon5:c.A462C:p.E154D exonic ENSG00000011638 NA nonsynonymous SNV ENSG00000011638:ENST00000233047:exon5:c.A462C:p.E154D,ENSG00000011638:ENST00000261388:exon5:c.A462C:p.E154D,ENSG00000011638:ENST00000451578:exon6:c.A534C:p.E178D,ENSG00000011638:ENST00000572599:exon6:c.A462C:p.E154D NA NA 16p12.3 NA NA NA NA rs1063087 0.85 0.85 0.884 0.898762 0.7416 0.999 0.8429 0.9788 0.8885 0.74 0.97 0.79 0.95 0.8086 0.97 1 T 0.0 B 0.0 B 0.884 N 1.000 P -0.92 N 1.9 T -0.998 T 0.000 T 0.019 -0.533 1.577 -1.46 -0.220 -0.123 6.033 -0.532616 NA 0.93 0.733256 0.940455 NA 0.899 NA 5.0498774 1155 16 66886581 66886581 A G intronic CA7 NA NA NA ncRNA_intronic ENSG00000258122 NA NA NA NA NA 16q22.1 Score=832;Name=V$TST1_01 NA NA NA rs7187695 0.23 0.23 0.251 0.258387 0.0855 0.0347 0.098 0.7776 0.0787 0.08 0.03 0.1 0.78 0.1247 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 -0.821575 NA NA 0.073488 0.638636 NA 0.348 NA 5.0496453 1155 6 87970301 87970301 C G exonic ZNF292 NA synonymous SNV ZNF292:NM_015021:exon8:c.C6954G:p.T2318T exonic ENSG00000188994 NA synonymous SNV ENSG00000188994:ENST00000496806:exon3:c.C708G:p.T236T,ENSG00000188994:ENST00000339907:exon8:c.C6939G:p.T2313T,ENSG00000188994:ENST00000369577:exon8:c.C6954G:p.T2318T Score=309;Name=lod=24 NA 6q14.3 NA NA NA NA rs3812132 0.63 0.63 0.612 0.674121 0.5139 0.6012 0.7032 0.848 0.6585 0.52 0.57 0.7 0.84 0.5765 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 -4.462683 NA NA 0.527255 0.804872 NA 0.514 NA 5.0490116 1155 6 25967068 25967068 C T exonic TRIM38 NA synonymous SNV TRIM38:NM_006355:exon3:c.C318T:p.D106D exonic ENSG00000112343 NA synonymous SNV ENSG00000112343:ENST00000349458:exon2:c.C318T:p.D106D,ENSG00000112343:ENST00000357085:exon3:c.C318T:p.D106D NA NA 6p22.2 NA NA NA NA rs2009610 0.11 0.11 0.098 0.095647 0.2177 0.0665 0.1153 0.0189 0.09 0.21 0.06 0.11 0.01 0.1712 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.162775 NA NA 0.228837 0.050386 NA 0.058 NA 5.0489296 1155 21 45506819 45506819 T C exonic TRAPPC10 NA synonymous SNV TRAPPC10:NM_003274:exon16:c.T2517C:p.A839A exonic ENSG00000160218 NA synonymous SNV ENSG00000160218:ENST00000291574:exon16:c.T2517C:p.A839A NA NA 21q22.3 NA NA NA NA rs1131999 0.35 0.35 0.358 0.420727 0.164 0.2986 0.3184 0.7466 0.4427 0.17 0.3 0.28 0.73 0.2765 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 -1.008498 NA NA 0.177326 0.674081 NA 0.399 NA 5.0488406 1155 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 1155 7 158526880 158526880 G A UTR3 ESYT2 NM_020728:c.*18C>T NA NA UTR3 ENSG00000117868 ENST00000251527:c.*18C>T,ENST00000275418:c.*18C>T,ENST00000435514:c.*18C>T NA NA NA NA 7q36.3 NA Name=CTCF NA NA rs3750051 0.27 0.27 0.248 0.291933 0.0656 0.5536 0.2089 0.3684 0.2106 0.06 0.52 0.18 0.34 0.1566 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.766496 2.766496 NA 0.064767 0.311847 NA 0.145 NA 5.0463664 1155 12 94972290 94972290 C T exonic TMCC3 NA synonymous SNV TMCC3:NM_020698:exon3:c.G1011A:p.E337E exonic ENSG00000057704 NA synonymous SNV ENSG00000057704:ENST00000261226:exon3:c.G1011A:p.E337E,ENSG00000057704:ENST00000551457:exon3:c.G918A:p.E306E Score=549;Name=lod=228 NA 12q22 NA NA NA NA rs2270893 0.53 0.53 0.534 0.519968 0.5378 0.4653 0.5634 0.5234 0.5225 0.53 0.49 0.57 0.54 0.5446 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.032089 NA NA 0.537907 0.516568 ID=COSM432006;OCCURENCE=1(breast) 0.478 NA 5.0463596 1155 16 85009970 85009970 A G exonic ZDHHC7 NA synonymous SNV ZDHHC7:NM_017740:exon8:c.T906C:p.G302G,ZDHHC7:NM_001145548:exon9:c.T1017C:p.G339G exonic ENSG00000153786 NA synonymous SNV ENSG00000153786:ENST00000313732:exon8:c.T906C:p.G302G,ENSG00000153786:ENST00000344861:exon9:c.T1017C:p.G339G,ENSG00000153786:ENST00000564466:exon9:c.T1017C:p.G339G NA NA 16q24.1 Score=769;Name=V$YY1_02 NA NA NA rs7195377 0.66 0.66 0.681 0.701278 0.502 0.63 0.7421 0.9516 0.6125 0.49 0.63 0.69 0.93 0.5966 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 -0.727795 NA NA 0.521744 0.881537 NA 0.717 NA 5.0463226 1155 22 21377301 21377301 C A exonic P2RX6 NA synonymous SNV P2RX6:NM_001159554:exon5:c.C456A:p.P152P,P2RX6:NM_005446:exon5:c.C534A:p.P178P exonic ENSG00000099957 NA synonymous SNV ENSG00000099957:ENST00000336296:exon5:c.C504A:p.P168P,ENSG00000099957:ENST00000401443:exon5:c.C456A:p.P152P,ENSG00000099957:ENST00000413302:exon5:c.C534A:p.P178P,ENSG00000099957:ENST00000443995:exon5:c.C375A:p.P125P NA NA 22q11.21 NA Name=CTCF,SMC3_(ab9263) NA NA rs1548411 0.63 0.63 0.613 0.630391 0.5358 0.6349 0.67 0.7587 0.5215 0.53 0.66 0.63 0.74 0.5608 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 1.134255 NA NA 0.523837 0.729687 NA 0.681 NA 5.0462296 1155 4 128565000 128565000 A G exonic INTU NA synonymous SNV INTU:NM_015693:exon2:c.A471G:p.R157R exonic ENSG00000164066 NA synonymous SNV ENSG00000164066:ENST00000296461:exon2:c.A471G:p.R157R,ENSG00000164066:ENST00000335251:exon2:c.A471G:p.R157R,ENSG00000164066:ENST00000503626:exon2:c.A471G:p.R157R,ENSG00000164066:ENST00000503952:exon2:c.A471G:p.R157R,ENSG00000164066:ENST00000504491:exon2:c.A414G:p.R138R Score=425;Name=lod=71 NA 4q28.1 NA NA NA NA rs3749507 0.58 0.58 0.566 0.616414 0.5368 0.5506 0.5778 0.6725 0.7178 0.53 0.54 0.62 0.67 0.5598 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 -0.187445 NA NA 0.525 0.640263 NA 0.522 NA 5.0450666 1155 21 47410931 47410931 T C exonic COL6A1 NA synonymous SNV COL6A1:NM_001848:exon15:c.T1095C:p.G365G exonic ENSG00000142156 NA synonymous SNV ENSG00000142156:ENST00000361866:exon15:c.T1095C:p.G365G NA NA 21q22.3 NA NA NA NA rs1980982 0.52 0.52 0.522 0.544928 0.5298 0.3333 0.451 0.7814 0.5256 0.53 0.33 0.46 0.79 0.5315 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 -0.680225 NA NA 0.560349 0.748071 NA 0.565 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079742.2;CLNDSDB=.;CLNDSDBID=. 5.0450176 1156 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 1156 4 113436044 113436044 T G exonic NEUROG2 NA synonymous SNV NEUROG2:NM_024019:exon2:c.A588C:p.G196G exonic ENSG00000178403 NA synonymous SNV ENSG00000178403:ENST00000313341:exon2:c.A588C:p.G196G NA NA 4q25 NA Name=CTCF,CTCF_(SC-5916),CTCF_(C-20),ZNF263,Egr-1 Name=4 NA rs901474 0.93 0.93 0.924 0.957867 0.8628 1 0.9337 0.9955 0.9785 0.85 1 0.92 1 0.9002 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.670399 NA NA 0.860168 0.976223 NA 0.819 NA 5.0434986 1156 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 1156 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 1156 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 1156 3 28520417 28520417 T A exonic ZCWPW2 NA nonsynonymous SNV ZCWPW2:NM_001040432:exon4:c.T605A:p.L202Q exonic ENSG00000206559 NA nonsynonymous SNV ENSG00000206559:ENST00000421010:exon4:c.T605A:p.L202Q,ENSG00000206559:ENST00000383768:exon5:c.T605A:p.L202Q NA NA 3p24.1 NA NA NA NA rs1563656 0.46 0.46 0.444 0.454673 0.4304 0.6171 0.4654 0.323 0.4826 0.43 0.6 0.45 0.35 0.435 0.6 0.62 T 0.0 B 0.0 B . . 1.000 P -0.805 N 1.41 T -0.960 T 0.000 T 0.332 -1.525 0.016 0.225 -0.843 -0.562 . -1.524785 NA 0.37 0.425547 0.35429 NA 0.355 NA 5.0423864 1156 16 23226787 23226787 C G exonic SCNN1G NA synonymous SNV SCNN1G:NM_001039:exon13:c.C1947G:p.L649L exonic ENSG00000166828 NA synonymous SNV ENSG00000166828:ENST00000300061:exon13:c.C1947G:p.L649L NA NA 16p12.2 NA NA NA NA rs5723 0.18 0.18 0.179 0.154952 0.2227 0.0585 0.1441 0.2542 0.0583 0.22 0.07 0.16 0.28 0.1789 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23787 NA NA 0.223488 0.252164 NA 0.13 NA 5.0415786 1156 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 1156 10 11805339 11805339 C T exonic ECHDC3 NA synonymous SNV ECHDC3:NM_024693:exon5:c.C708T:p.I236I exonic ENSG00000134463 NA synonymous SNV ENSG00000134463:ENST00000422887:exon4:c.C489T:p.I163I,ENSG00000134463:ENST00000379215:exon5:c.C708T:p.I236I NA NA 10p14 NA NA NA NA rs17850531 0.19 0.19 0.164 0.197085 0.2107 0.3075 0.2435 0.0197 0.2761 0.21 0.28 0.22 0.03 0.2081 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.06467 NA NA 0.206628 0.054244 NA 0.152 NA 5.0412386 1156 6 131184770 131184770 T G intronic EPB41L2 NA NA NA intronic ENSG00000079819 NA NA NA NA NA 6q23.1 NA Name=HNF4A_(H-171),CEBPB,JunD,FOXA2_(SC-6554),TCF4,SP1,RXRA,HNF4G_(SC-6558),ELF1_(SC-631),FOXA1_(C-20),FOSL2,FOXA1_(SC-101058),p300,TCF12,HDAC2_(SC-6296) Name=5 NA rs915172 0.37 0.37 0.393 0.418331 0.2992 0.2907 0.3732 0.5855 0.4785 0.3 0.31 0.35 0.57 0.3582 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337719 NA NA 0.301931 0.545166 NA 0.449 NA 5.040669 1156 19 49102399 49102399 C T exonic SULT2B1 NA synonymous SNV SULT2B1:NM_004605:exon6:c.C789T:p.C263C,SULT2B1:NM_177973:exon7:c.C834T:p.C278C exonic ENSG00000088002 NA synonymous SNV ENSG00000088002:ENST00000323090:exon6:c.C789T:p.C263C,ENSG00000088002:ENST00000201586:exon7:c.C834T:p.C278C NA NA 19q13.33 NA Name=ZNF263 NA NA rs1132054 0.39 0.39 0.371 0.36222 0.5149 0.2609 0.4222 0.211 0.4714 0.5 0.3 0.47 0.26 0.5551 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145523 NA NA 0.556008 0.256259 ID=COSM439906,COSM439907;OCCURENCE=1(breast) 0.464 NA 5.0406586 1156 6 74466377 74466377 C T exonic CD109 NA synonymous SNV CD109:NM_001159588:exon5:c.C414T:p.Y138Y,CD109:NM_001159587:exon6:c.C645T:p.Y215Y,CD109:NM_133493:exon6:c.C645T:p.Y215Y exonic ENSG00000156535 NA synonymous SNV ENSG00000156535:ENST00000422508:exon5:c.C414T:p.Y138Y,ENSG00000156535:ENST00000287097:exon6:c.C645T:p.Y215Y,ENSG00000156535:ENST00000437994:exon6:c.C645T:p.Y215Y Score=420;Name=lod=68 NA 6q13 NA NA NA NA rs6453696 0.67 0.67 0.7 0.668331 0.507 0.8452 0.6816 0.7345 0.5532 0.49 0.84 0.65 0.76 0.5879 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 -0.315024 NA NA 0.53133 0.72197 NA 0.688 NA 5.0404366 1156 2 238258814 238258814 C G exonic COL6A3 NA synonymous SNV COL6A3:NM_057166:exon25:c.G5034C:p.G1678G,COL6A3:NM_057167:exon27:c.G6237C:p.G2079G,COL6A3:NM_004369:exon28:c.G6855C:p.G2285G exonic ENSG00000163359 NA synonymous SNV ENSG00000163359:ENST00000472056:exon25:c.G5034C:p.G1678G,ENSG00000163359:ENST00000409809:exon26:c.G6237C:p.G2079G,ENSG00000163359:ENST00000346358:exon27:c.G6255C:p.G2085G,ENSG00000163359:ENST00000347401:exon27:c.G6252C:p.G2084G,ENSG00000163359:ENST00000353578:exon27:c.G6237C:p.G2079G,ENSG00000163359:ENST00000295550:exon28:c.G6855C:p.G2285G NA NA 2q37.3 NA NA NA NA rs3790993 0.58 0.58 0.576 0.554313 0.5278 0.6746 0.4683 0.5862 0.4755 0.54 0.69 0.48 0.59 0.5489 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 -1.27134 NA NA 0.549535 0.577167 NA 0.667 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080973.2;CLNDSDB=.;CLNDSDBID=. 5.0404316 1156 22 45826880 45826880 G A exonic RIBC2 NA unknown UNKNOWN exonic ENSG00000128408 NA nonsynonymous SNV ENSG00000128408:ENST00000342894:exon6:c.G785A:p.R262Q,ENSG00000128408:ENST00000538017:exon6:c.G989A:p.R330Q NA NA 22q13.31 NA NA NA NA rs2072770 0.65 0.65 0.668 0.709864 0.5089 0.6925 0.5418 0.9486 0.7311 0.5 0.66 0.57 0.94 0.6298 0.94 0.75 T 0.002 B 0.0 B 0.228 N 1.000 P . . 1.95 T -1.014 T 0.000 T 0.347 -0.689 1.008 0.016 -0.191 0.509 5.391 -0.688857 NA 0.45 0.48822 0.87865 ID=COSM1416811;OCCURENCE=1(large_intestine) 0.152 NA 5.0397467 1156 1 160990878 160990878 C T UTR5 F11R NM_016946:c.-15G>A NA NA UTR5;UTR3 ENSG00000158769;ENSG00000270149 ENST00000368026:c.-15G>A,ENST00000537746:c.-15G>A;ENST00000289779:c.*27G>A,ENST00000470694:c.*27G>A NA NA NA NA 1q23.3 Score=704;Name=V$HOX13_01 Name=Pol2,NF-YA,HEY1,Pol2-4H8,TAF1,ZEB1_(SC-25388),Sin3Ak-20,NF-YB,TBP NA NA rs28365978 0.59 0.59 0.108 0.6252 0.498 0.6329 0.5216 0.767 0.6299 0.5 0.63 0.52 0.73 0.5527 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 1.708787 1.708787 NA 0.243256 0.460054 NA NA NA 5.0393774 1156 3 158320597 158320597 T C exonic MLF1 NA synonymous SNV MLF1:NM_001130156:exon6:c.T495C:p.S165S,MLF1:NM_001195433:exon6:c.T366C:p.S122S,MLF1:NM_022443:exon6:c.T570C:p.S190S,MLF1:NM_001130157:exon7:c.T495C:p.S165S,MLF1:NM_001195432:exon8:c.T663C:p.S221S,MLF1:NM_001195434:exon8:c.T540C:p.S180S exonic ENSG00000178053 NA synonymous SNV ENSG00000178053:ENST00000491767:exon5:c.T348C:p.S116S,ENSG00000178053:ENST00000498592:exon5:c.T435C:p.S145S,ENSG00000178053:ENST00000355893:exon6:c.T570C:p.S190S,ENSG00000178053:ENST00000359117:exon6:c.T495C:p.S165S,ENSG00000178053:ENST00000469452:exon6:c.T366C:p.S122S,ENSG00000178053:ENST00000482628:exon7:c.T495C:p.S165S,ENSG00000178053:ENST00000484955:exon7:c.T495C:p.S165S,ENSG00000178053:ENST00000392822:exon8:c.T663C:p.S221S,ENSG00000178053:ENST00000471745:exon8:c.T540C:p.S180S,ENSG00000178053:ENST00000478894:exon8:c.T540C:p.S180S Score=387;Name=lod=50 NA 3q25.32 NA NA NA NA rs4875 0.55 0.55 0.569 0.576478 0.5437 0.381 0.5303 0.7595 0.5971 0.56 0.37 0.53 0.76 0.5453 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 0.041528 NA NA 0.538837 0.709355 NA 0.551 NA 5.0388296 1156 3 194081392 194081392 G A exonic LRRC15 NA synonymous SNV LRRC15:NM_130830:exon2:c.C381T:p.L127L,LRRC15:NM_001135057:exon3:c.C399T:p.L133L exonic ENSG00000172061 NA synonymous SNV ENSG00000172061:ENST00000347624:exon2:c.C381T:p.L127L,ENSG00000172061:ENST00000439944:exon2:c.C399T:p.L133L,ENSG00000172061:ENST00000428839:exon3:c.C399T:p.L133L NA NA 3q29 NA NA NA NA rs923936 0.14 0.14 0.138 0.116414 0.2097 0.0685 0.1052 0.093 0.1094 0.22 0.08 0.12 0.09 0.1863 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.929543 NA NA 0.232209 0.097594 NA 0.159 NA 5.0384576 1156 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 1156 16 88105725 88105725 G A exonic BANP NA synonymous SNV BANP:NM_001173541:exon11:c.G1236A:p.A412A,BANP:NM_017869:exon11:c.G1245A:p.A415A,BANP:NM_001173539:exon12:c.G1353A:p.A451A,BANP:NM_001173540:exon12:c.G1329A:p.A443A,BANP:NM_001173542:exon12:c.G1362A:p.A454A,BANP:NM_079837:exon12:c.G1311A:p.A437A,BANP:NM_001173543:exon13:c.G1395A:p.A465A exonic ENSG00000172530 NA synonymous SNV ENSG00000172530:ENST00000355022:exon11:c.G1245A:p.A415A,ENSG00000172530:ENST00000479780:exon11:c.G1236A:p.A412A,ENSG00000172530:ENST00000355163:exon12:c.G1329A:p.A443A,ENSG00000172530:ENST00000393208:exon12:c.G1311A:p.A437A,ENSG00000172530:ENST00000538234:exon12:c.G1362A:p.A454A,ENSG00000172530:ENST00000286122:exon13:c.G1395A:p.A465A,ENSG00000172530:ENST00000393207:exon13:c.G1395A:p.A465A NA NA 16q24.2 Score=763;Name=V$PAX5_01 NA NA NA rs8050209 0.46 0.46 0.467 0.454872 0.5388 0.3016 0.3804 0.525 0.4847 0.56 0.27 0.42 0.55 0.5497 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557542 NA NA 0.540936 0.549679 NA 0.507 NA 5.0372306 1156 19 1127615 1127615 G C exonic SBNO2 NA synonymous SNV SBNO2:NM_001100122:exon2:c.C258G:p.S86S,SBNO2:NM_014963:exon5:c.C429G:p.S143S exonic ENSG00000064932 NA synonymous SNV ENSG00000064932:ENST00000438103:exon2:c.C258G:p.S86S,ENSG00000064932:ENST00000361757:exon5:c.C429G:p.S143S,ENSG00000064932:ENST00000587024:exon5:c.C429G:p.S143S NA NA 19p13.3 NA NA NA NA rs2074915 0.17 0.17 0.137 0.17512 0.1958 0.1875 0.304 0.0136 0.2679 0.21 0.17 0.27 0.03 0.2238 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.087366 NA NA 0.209891 0.046288 ID=COSM438530,COSM438531;OCCURENCE=1(breast) 0.188 NA 5.0371756 1156 3 38524742 38524742 C T exonic ACVR2B NA synonymous SNV ACVR2B:NM_001106:exon11:c.C1458T:p.N486N exonic ENSG00000114739 NA synonymous SNV ENSG00000114739:ENST00000352511:exon11:c.C1458T:p.N486N Score=597;Name=lod=356 NA 3p22.2 NA NA NA NA rs1046048 0.36 0.36 0.357 0.353235 0.5755 0.2599 0.3228 0.1263 0.5491 0.58 0.28 0.32 0.13 0.4851 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435588 NA NA 0.569186 0.183613 NA 0.319 NA 5.0368806 1156 14 101442218 101442218 A G ncRNA_exonic SNORD114-18 NA NA NA ncRNA_exonic ENSG00000202142 NA NA NA NA NA 14q32.31 NA Name=JunD,c-Fos Name=30 NA rs12893444 0.48 0.48 0.482 0.490415 0.5537 0.1151 0.5605 0.6884 0.4949 0.55 0.13 0.56 0.71 0.5106 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.267585 NA NA 0.565545 0.670091 NA 0.623 NA 5.0368216 1156 19 56954103 56954103 C A exonic ZNF667 NA synonymous SNV ZNF667:NM_022103:exon5:c.G261T:p.G87G exonic ENSG00000198046 NA synonymous SNV ENSG00000198046:ENST00000292069:exon5:c.G261T:p.G87G,ENSG00000198046:ENST00000587555:exon5:c.G261T:p.G87G,ENSG00000198046:ENST00000342634:exon7:c.G645T:p.G215G,ENSG00000198046:ENST00000504904:exon7:c.G261T:p.G87G NA NA 19q13.43 NA NA NA NA rs7253217 0.17 0.17 0.149 0.161741 0.2406 0.0754 0.1873 0.1483 0.1697 0.24 0.09 0.2 0.13 0.2002 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.727052 NA NA 0.189091 0.146825 NA 0.145 NA 5.0367756 1156 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 1156 10 69366602 69366602 T C intronic CTNNA3 NA NA NA intronic ENSG00000183230 NA NA NA NA NA 10q21.3 NA Name=p300 Name=100 NA rs3750863 0.49 0.49 0.514 0.529952 0.2942 0.5149 0.3818 0.888 0.409 0.29 0.5 0.4 0.86 0.3811 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 1.673286 1.673286 NA 0.289302 0.781888 NA 0.449 NA 5.035398 1156 1 161695639 161695639 G T exonic FCRLB NA synonymous SNV FCRLB:NM_001002901:exon4:c.G336T:p.A112A exonic ENSG00000162746 NA synonymous SNV ENSG00000162746:ENST00000367944:exon3:c.G315T:p.A105A,ENSG00000162746:ENST00000367945:exon3:c.G315T:p.A105A,ENSG00000162746:ENST00000336830:exon4:c.G336T:p.A112A,ENSG00000162746:ENST00000367946:exon4:c.G336T:p.A112A,ENSG00000162746:ENST00000392158:exon4:c.G336T:p.A112A,ENSG00000162746:ENST00000367948:exon6:c.G336T:p.A112A NA NA 1q23.3 NA Name=PAX5-C20,SUZ12,HA-E2F1,Pol2,HEY1 Name=145 NA rs7520519 0.94 0.94 0.938 0.927716 0.8797 1 0.9352 0.9894 0.8139 0.87 1 0.93 0.99 0.8849 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.315777 NA NA 0.866744 0.969587 NA 0.957 NA 5.0353226 1157 13 111158874 111158874 A G exonic COL4A2 NA synonymous SNV COL4A2:NM_001846:exon46:c.A4515G:p.P1505P exonic ENSG00000134871 NA synonymous SNV ENSG00000134871:ENST00000360467:exon46:c.A4515G:p.P1505P NA NA 13q34 Score=960;Name=V$AP2REP_01 Name=GABP,TCF4 NA NA rs445348 0.75 0.75 0.737 0.751997 0.8946 0.5635 0.817 0.7595 0.7434 0.89 0.55 0.81 0.73 0.8329 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 0.633908 NA NA 0.905569 0.799903 NA 0.87 NA 5.0335976 1157 2 55490819 55490819 G T exonic MTIF2 NA nonsynonymous SNV MTIF2:NM_002453:exon4:c.C176A:p.T59N,MTIF2:NM_001005369:exon5:c.C176A:p.T59N exonic ENSG00000085760 NA nonsynonymous SNV ENSG00000085760:ENST00000404297:exon2:c.C176A:p.T59N,ENSG00000085760:ENST00000403721:exon3:c.C176A:p.T59N,ENSG00000085760:ENST00000263629:exon4:c.C176A:p.T59N,ENSG00000085760:ENST00000441307:exon4:c.C176A:p.T59N,ENSG00000085760:ENST00000366137:exon5:c.C176A:p.T59N,ENSG00000085760:ENST00000394600:exon5:c.C176A:p.T59N NA NA 2p16.1 NA NA NA NA rs1056445 0.68 0.68 0.665 0.629193 0.7922 0.627 0.745 0.4418 0.635 0.82 0.65 0.74 0.46 0.7309 0.82 0.55 T 0.028 B 0.019 B 0.688 N 1.000 P 0.69 N 0.92 T -0.976 T 0.000 T 0.098 1.252 10.08 1.38 0.050 0.033 10.626 1.25199 1.25199 0.12 0.77686 0.515207 NA 0.688 NA 5.0333734 1157 10 33209266 33209266 G T exonic ITGB1 NA synonymous SNV ITGB1:NM_033668:exon9:c.C1176A:p.G392G,ITGB1:NM_002211:exon10:c.C1176A:p.G392G,ITGB1:NM_133376:exon10:c.C1176A:p.G392G exonic ENSG00000150093 NA synonymous SNV ENSG00000150093:ENST00000423113:exon9:c.C1176A:p.G392G,ENSG00000150093:ENST00000302278:exon10:c.C1176A:p.G392G,ENSG00000150093:ENST00000374956:exon10:c.C1176A:p.G392G,ENSG00000150093:ENST00000396033:exon10:c.C1176A:p.G392G Score=684;Name=lod=803 NA 10p11.22 Score=883;Name=V$SRY_02 NA NA NA rs2230396 0.76 0.76 0.747 0.784545 0.8767 0.6885 0.8963 0.6626 0.8742 0.87 0.66 0.86 0.62 0.8581 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 0.899042 NA NA 0.898721 0.682705 NA 0.804 NA 5.0331456 1157 5 73090261 73090261 T C exonic ARHGEF28 NA synonymous SNV ARHGEF28:NM_001080479:exon8:c.T945C:p.A315A,ARHGEF28:NM_001177693:exon8:c.T945C:p.A315A exonic ENSG00000214944 NA synonymous SNV ENSG00000214944:ENST00000426542:exon7:c.T945C:p.A315A,ENSG00000214944:ENST00000437974:exon7:c.T945C:p.A315A,ENSG00000214944:ENST00000287898:exon8:c.T945C:p.A315A,ENSG00000214944:ENST00000296794:exon8:c.T945C:p.A315A,ENSG00000214944:ENST00000513042:exon8:c.T945C:p.A315A,ENSG00000214944:ENST00000545377:exon8:c.T945C:p.A315A NA NA 5q13.2 NA NA Name=69 NA rs7716253 0.58 0.58 0.581 0.613419 0.508 0.5327 0.5346 0.8215 0.5798 0.51 0.51 0.52 0.83 0.606 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 0.174448 NA NA 0.519596 0.790723 NA 0.471 NA 5.0330706 1157 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 1157 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 1157 10 91162677 91162677 C T exonic IFIT1 NA synonymous SNV IFIT1:NM_001548:exon2:c.C645T:p.D215D,IFIT1:NM_001270927:exon3:c.C645T:p.D215D,IFIT1:NM_001270928:exon3:c.C552T:p.D184D,IFIT1:NM_001270929:exon3:c.C552T:p.D184D,IFIT1:NM_001270930:exon3:c.C552T:p.D184D exonic ENSG00000185745 NA synonymous SNV ENSG00000185745:ENST00000371804:exon2:c.C645T:p.D215D,ENSG00000185745:ENST00000546318:exon2:c.C552T:p.D184D NA NA 10q23.31 NA NA NA NA rs303210 0.23 0.23 0.204 0.243011 0.2068 0.4395 0.2522 0.0318 0.3569 0.22 0.42 0.22 0.03 0.235 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.163223 NA NA 0.192674 0.057649 NA 0.101 NA 5.0321926 1157 19 58258466 58258466 G T intronic ZNF776 NA NA NA intronic ENSG00000152443,ENSG00000269026 NA NA NA NA NA 19q13.43 NA Name=ZBTB7A_(SC-34508) Name=26 NA rs60751243 0.35 0.35 0.323 0.282348 0.3211 0.4335 0.3588 0.2171 0.1207 0.32 0.51 0.37 0.21 0.357 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.244482 1.244482 NA 0.289746 0.210274 NA 0.246 NA 5.032154 1157 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 1157 8 17819572 17819572 C T exonic PCM1 NA synonymous SNV PCM1:NM_006197:exon16:c.C2352T:p.P784P exonic ENSG00000078674 NA synonymous SNV ENSG00000078674:ENST00000524226:exon15:c.C2355T:p.P785P,ENSG00000078674:ENST00000325083:exon16:c.C2352T:p.P784P,ENSG00000078674:ENST00000519253:exon16:c.C2352T:p.P784P NA NA 8p22 NA NA Name=3 NA rs3780103 0.33 0.33 0.321 0.30631 0.5567 0.1667 0.3184 0.2133 0.3098 0.57 0.15 0.32 0.19 0.4864 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.707042 NA NA 0.59224 0.277566 NA 0.333 NA 5.0313266 1157 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 1157 17 28407876 28407876 T G exonic EFCAB5 NA synonymous SNV EFCAB5:NM_198529:exon17:c.T3303G:p.G1101G exonic ENSG00000176927 NA synonymous SNV ENSG00000176927:ENST00000419434:exon12:c.T2349G:p.G783G,ENSG00000176927:ENST00000320856:exon15:c.T2931G:p.G977G,ENSG00000176927:ENST00000394835:exon17:c.T3303G:p.G1101G Score=431;Name=lod=75 NA 17q11.2 NA NA NA NA rs7221743 0.55 0.55 0.573 0.570687 0.5656 0.2897 0.4669 0.9402 0.4397 0.55 0.29 0.48 0.92 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 0.451331 NA NA 0.543187 0.870095 NA 0.471 NA 5.0303796 1157 8 68993013 68993013 A G exonic PREX2 NA synonymous SNV PREX2:NM_024870:exon17:c.A1818G:p.G606G,PREX2:NM_025170:exon17:c.A1818G:p.G606G exonic ENSG00000046889 NA synonymous SNV ENSG00000046889:ENST00000288368:exon17:c.A1818G:p.G606G Score=655;Name=lod=611 NA 8q13.2 NA NA NA NA rs12682458 0.41 0.41 0.5 0.523962 0.5696 0.4722 0.4524 0.5318 0.5706 0.44 0.39 0.42 0.37 0.5244 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.210627 NA NA 0.542471 0.536558 NA NA NA 5.0301956 1157 8 68993014 68993014 T C exonic PREX2 NA synonymous SNV PREX2:NM_024870:exon17:c.T1819C:p.L607L,PREX2:NM_025170:exon17:c.T1819C:p.L607L exonic ENSG00000046889 NA synonymous SNV ENSG00000046889:ENST00000288368:exon17:c.T1819C:p.L607L Score=655;Name=lod=611 NA 8q13.2 NA NA NA NA rs12680555 0.41 0.41 0.491 0.523962 0.5696 0.4722 0.4524 0.5318 0.5706 0.45 0.39 0.43 0.37 0.5244 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.081633 NA NA 0.542821 0.536331 NA NA NA 5.0298456 1157 9 36674842 36674842 C T exonic MELK NA synonymous SNV MELK:NM_001256692:exon14:c.C1293T:p.N431N,MELK:NM_001256688:exon15:c.C1473T:p.N491N,MELK:NM_001256690:exon15:c.C1473T:p.N491N,MELK:NM_001256691:exon15:c.C1446T:p.N482N,MELK:NM_001256693:exon15:c.C1104T:p.N368N,MELK:NM_001256685:exon16:c.C1563T:p.N521N,MELK:NM_001256687:exon16:c.C1542T:p.N514N,MELK:NM_001256689:exon16:c.C1590T:p.N530N,MELK:NM_014791:exon17:c.C1686T:p.N562N exonic ENSG00000165304 NA synonymous SNV ENSG00000165304:ENST00000536987:exon14:c.C1293T:p.N431N,ENSG00000165304:ENST00000536329:exon15:c.C1473T:p.N491N,ENSG00000165304:ENST00000545008:exon15:c.C1473T:p.N491N,ENSG00000165304:ENST00000536860:exon16:c.C1542T:p.N514N,ENSG00000165304:ENST00000541717:exon16:c.C1563T:p.N521N,ENSG00000165304:ENST00000543751:exon16:c.C1590T:p.N530N,ENSG00000165304:ENST00000298048:exon17:c.C1686T:p.N562N,ENSG00000165304:ENST00000538311:exon17:c.C1104T:p.N368N Score=587;Name=lod=324 NA 9p13.2 Score=751;Name=V$MEF2_04 NA NA NA rs2274473 0.79 0.79 0.759 0.749201 0.8887 0.8859 0.8862 0.4244 0.8067 0.9 0.91 0.88 0.45 0.8506 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 0.731951 NA NA 0.898208 0.503858 NA 0.594 NA 5.0291586 1157 11 5462085 5462085 G A exonic OR51I1 NA synonymous SNV OR51I1:NM_001005288:exon1:c.C660T:p.Y220Y exonic ENSG00000167359 NA synonymous SNV ENSG00000167359:ENST00000380211:exon1:c.C660T:p.Y220Y NA NA 11p15.4 NA NA NA NA rs11037444 0.22 0.22 0.196 0.225639 0.2256 0.373 0.2262 0.1203 0.2157 0.22 0.33 0.22 0.1 0.2027 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.179106 NA NA 0.209216 0.130168 NA 0.203 NA 5.0291506 1157 4 123843716 123843716 T C exonic NUDT6 NA synonymous SNV NUDT6:NM_007083:exon1:c.A12G:p.P4P exonic ENSG00000170917 NA synonymous SNV ENSG00000170917:ENST00000304430:exon1:c.A12G:p.P4P,ENSG00000170917:ENST00000503370:exon1:c.A12G:p.P4P,ENSG00000170917:ENST00000512116:exon1:c.A12G:p.P4P NA NA 4q28.1 NA Name=HEY1,GABP,Pol2-4H8,TAF1,HMGN3,HA-E2F1,Pol2(phosphoS2),Pol2,TBP,CCNT2,c-Myc,YY1_(C-20) Name=102 NA rs13134412 0.77 0.77 0.738 0.74361 0.8887 0.9514 0.7723 0.3419 0.9029 0.89 0.95 0.78 0.38 0.8534 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 0.73917 NA NA 0.895786 0.453514 NA 0.594 NA 5.0287806 1157 20 62574006 62574006 A G ncRNA_exonic MIR647 NA NA NA ncRNA_exonic ENSG00000207554 NA NA NA NA NA 20q13.33 NA NA Name=10 NA rs73147065 0.23 0.23 0.226 0.230631 0.1809 0.1548 0.1455 0.4652 0.1033 0.18 0.15 0.15 0.48 0.2861 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.863282 NA NA 0.170923 0.400195 NA 0.188 NA 5.0287436 1157 1 186367619 186367619 C T ncRNA_intronic MIR548F1 NA NA NA intronic ENSG00000157181 NA NA NA NA NA 1q31.1 NA Name=BRF2 NA NA rs3766698 0.15 0.15 0.124 0.135383 0.0974 0.3938 0.0865 0.0061 0.1176 0.09 0.38 0.1 0.01 0.1146 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.539393 NA NA 0.092606 0.022475 NA 0.051 NA 5.0287273 1157 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 1157 14 65242044 65242044 C T exonic SPTB NA synonymous SNV SPTB:NM_000347:exon22:c.G4641A:p.A1547A,SPTB:NM_001024858:exon22:c.G4641A:p.A1547A exonic ENSG00000070182 NA synonymous SNV ENSG00000070182:ENST00000553938:exon4:c.G636A:p.A212A,ENSG00000070182:ENST00000389720:exon22:c.G4641A:p.A1547A,ENSG00000070182:ENST00000389721:exon22:c.G4641A:p.A1547A,ENSG00000070182:ENST00000389722:exon22:c.G4641A:p.A1547A,ENSG00000070182:ENST00000542895:exon23:c.G4641A:p.A1547A,ENSG00000070182:ENST00000556626:exon23:c.G4641A:p.A1547A NA NA 14q23.3 NA NA NA NA rs184528 0.38 0.38 0.38 0.412141 0.1938 0.3671 0.2493 0.7746 0.3088 0.19 0.42 0.24 0.72 0.268 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.590113 NA NA 0.176512 0.679982 NA 0.406 NA 5.0283546 1157 6 41318438 41318438 A G exonic NCR2 NA nonsynonymous SNV NCR2:NM_004828:exon5:c.A667G:p.M223V exonic ENSG00000096264 NA nonsynonymous SNV ENSG00000096264:ENST00000373089:exon5:c.A667G:p.M223V NA NA 6p21.1 NA NA NA NA rs2273962 0.73 0.73 0.7 0.726837 0.7734 0.8611 0.8674 0.4947 0.7546 0.76 0.84 0.85 0.47 0.7589 0.85 1 T 0.0 B 0.001 B . . 1.000 P . . 2.72 T -0.912 T 0.004 T 0.035 -0.581 1.391 0.251 0.044 -0.093 4.499 -0.580702 NA 0.56 0.773488 0.551294 NA 0.746 NA 5.0275454 1157 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 1157 19 53793574 53793574 A G exonic BIRC8 NA synonymous SNV BIRC8:NM_033341:exon1:c.T54C:p.V18V exonic ENSG00000163098 NA synonymous SNV ENSG00000163098:ENST00000426466:exon1:c.T54C:p.V18V Score=472;Name=lod=110 NA 19q13.42 NA NA NA NA rs2865248 0.58 0.58 0.575 0.602436 0.506 0.5069 0.5879 0.8411 0.4877 0.52 0.49 0.56 0.82 0.5758 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 0.264476 NA NA 0.559651 0.796641 NA 0.558 NA 5.0252156 1158 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=SP1,IRF1,c-Myc,Max,NRSF,eGFP-JunD,E2F4,SETDB1,c-Fos,NF-YB,CCNT2,TBP,JunD,HA-E2F1,GATA-2,USF1_(SC-8983),USF-1,USF2,Pol2,E2F6_(H-50),E2F6,Pol2-4H8,HMGN3,RFX5_(N-494),TAF1,GATA-1,ETS1,HEY1 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 1158 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 1158 19 38939408 38939408 T C exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon11:c.T1077C:p.A359A,RYR1:NM_001042723:exon11:c.T1077C:p.A359A exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon11:c.T1077C:p.A359A,ENSG00000196218:ENST00000359596:exon11:c.T1077C:p.A359A,ENSG00000196218:ENST00000360985:exon11:c.T1077C:p.A359A NA NA 19q13.2 Score=760;Name=V$PAX5_01 NA NA NA rs10406027 0.93 0.93 0.921 0.903954 0.8827 0.9901 0.9323 0.9418 0.7658 0.89 0.99 0.94 0.92 0.8844 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.707174 NA NA 0.876395 0.931911 NA 0.913 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079119.1|RCV000119418.1;CLNDSDB=.|.;CLNDSDBID=.|. 5.0231716 1158 9 114484783 114484783 A G exonic C9orf84 NA synonymous SNV C9orf84:NM_001080551:exon11:c.T1728C:p.P576P,C9orf84:NM_173521:exon13:c.T1845C:p.P615P exonic ENSG00000165181 NA synonymous SNV ENSG00000165181:ENST00000394777:exon11:c.T1728C:p.P576P,ENSG00000165181:ENST00000394779:exon11:c.T1728C:p.P576P,ENSG00000165181:ENST00000318737:exon13:c.T1845C:p.P615P,ENSG00000165181:ENST00000374287:exon15:c.T1845C:p.P615P NA NA 9q31.3 NA NA NA NA rs12352352 0.15 0.15 0.154 0.14357 0.2286 0.0278 0.196 0.1422 0.1401 0.23 0.03 0.19 0.15 0.183 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.366105 NA NA 0.231977 0.174762 NA 0.196 NA 5.0230896 1158 9 136412255 136412255 A C exonic ADAMTSL2 NA synonymous SNV ADAMTSL2:NM_001145320:exon9:c.A859C:p.R287R,ADAMTSL2:NM_014694:exon9:c.A859C:p.R287R exonic ENSG00000197859 NA synonymous SNV ENSG00000197859:ENST00000354484:exon9:c.A859C:p.R287R,ENSG00000197859:ENST00000393060:exon9:c.A859C:p.R287R,ENSG00000197859:ENST00000393061:exon9:c.A1186C:p.R396R Score=544;Name=lod=216 NA 9q34.2 Score=926;Name=V$MSX1_01 NA NA NA rs2073876 0.75 0.75 0.728 0.724641 0.9066 0.5248 0.6859 0.761 0.7219 0.91 0.53 0.75 0.75 0.8198 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 1.629327 1.629327 NA 0.917209 0.794371 NA 0.877 NA 5.0230576 1158 12 125284748 125284748 A G exonic SCARB1 NA synonymous SNV SCARB1:NM_001082959:exon8:c.T1050C:p.A350A,SCARB1:NM_005505:exon8:c.T1050C:p.A350A exonic ENSG00000073060 NA synonymous SNV ENSG00000073060:ENST00000376788:exon6:c.T750C:p.A250A,ENSG00000073060:ENST00000544327:exon7:c.T888C:p.A296A,ENSG00000073060:ENST00000261693:exon8:c.T1050C:p.A350A,ENSG00000073060:ENST00000339570:exon8:c.T1050C:p.A350A,ENSG00000073060:ENST00000415380:exon8:c.T1050C:p.A350A,ENSG00000073060:ENST00000540495:exon8:c.T939C:p.A313A,ENSG00000073060:ENST00000541205:exon8:c.T927C:p.A309A,ENSG00000073060:ENST00000546215:exon8:c.T1050C:p.A350A NA NA 12q24.31 NA Name=GATA-2 NA NA rs5888 0.67 0.67 0.66 0.677117 0.5417 0.7599 0.6715 0.8306 0.5276 0.53 0.75 0.64 0.82 0.5852 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 -0.061944 NA NA 0.517209 0.815933 NA 0.667 NA 5.0225576 1158 19 48558286 48558286 G A exonic PLA2G4C NA synonymous SNV PLA2G4C:NM_001159322:exon15:c.C1308T:p.D436D,PLA2G4C:NM_001159323:exon15:c.C1278T:p.D426D,PLA2G4C:NM_003706:exon15:c.C1278T:p.D426D exonic ENSG00000105499 NA synonymous SNV ENSG00000105499:ENST00000599300:exon7:c.C534T:p.D178D,ENSG00000105499:ENST00000413144:exon14:c.C1278T:p.D426D,ENSG00000105499:ENST00000354276:exon15:c.C1278T:p.D426D,ENSG00000105499:ENST00000599111:exon15:c.C1308T:p.D436D,ENSG00000105499:ENST00000599921:exon15:c.C1278T:p.D426D NA NA 19q13.33 NA NA NA NA rs2307281 0.13 0.13 0.11 0.11222 0.2286 0.0159 0.2046 0.0197 0.1513 0.22 0.02 0.22 0.04 0.1915 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157247 NA NA 0.22407 0.051294 NA 0.065 NA 5.0224966 1158 9 107457725 107457725 G A exonic OR13D1 NA synonymous SNV OR13D1:NM_001004484:exon1:c.G1023A:p.L341L exonic ENSG00000179055 NA synonymous SNV ENSG00000179055:ENST00000318763:exon1:c.G1023A:p.L341L NA NA 9q31.1 NA NA NA NA rs12338899 0.27 0.27 0.252 0.270168 0.1909 0.4821 0.183 0.1657 0.3364 0.19 0.48 0.23 0.16 0.2412 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.522047 NA NA 0.212093 0.179074 NA 0.254 NA 5.0224736 1158 1 158582646 158582646 T C exonic SPTA1 NA synonymous SNV SPTA1:NM_003126:exon51:c.A7095G:p.A2365A exonic ENSG00000163554 NA synonymous SNV ENSG00000163554:ENST00000368147:exon51:c.A7086G:p.A2362A,ENSG00000163554:ENST00000368148:exon51:c.A7095G:p.A2365A Score=554;Name=lod=237 NA 1q23.1 NA NA NA NA rs2251969 0.55 0.55 0.507 0.504792 0.5626 0.6319 0.5202 0.4183 0.4202 0.58 0.6 0.52 0.46 0.5385 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.939094 NA NA 0.543237 0.43685 NA 0.507 NA 5.0223296 1158 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 1158 6 4735035 4735035 T C intergenic ECI2,CDYL dist=599204;dist=41645 NA NA exonic ENSG00000153046 NA nonsynonymous SNV ENSG00000153046:ENST00000328908:exon3:c.T143C:p.V48A NA NA 6p25.1 NA NA NA NA rs13196069 0.29 0.29 0.274 0.272963 0.2744 0.2946 0.3343 0.3056 0.1616 0.26 0.27 0.34 0.34 0.2727 0.34 1 T 0.0 B 0.0 B . . 1.000 P . . 0.94 T -0.983 T 0.012 T 0.06 -1.673 0.012 -0.744 -0.839 -0.891 5.211 -1.672678 NA 1 0.264419 0.339764 ID=COSM319394;OCCURENCE=1(lung) 0.333 NA 5.0218144 1158 11 58919813 58919813 A G exonic FAM111A NA synonymous SNV FAM111A:NM_022074:exon4:c.A672G:p.A224A,FAM111A:NM_198847:exon4:c.A672G:p.A224A,FAM111A:NM_001142519:exon5:c.A672G:p.A224A,FAM111A:NM_001142520:exon5:c.A672G:p.A224A,FAM111A:NM_001142521:exon5:c.A672G:p.A224A exonic ENSG00000166801 NA synonymous SNV ENSG00000166801:ENST00000531147:exon2:c.A672G:p.A224A,ENSG00000166801:ENST00000533703:exon3:c.A672G:p.A224A,ENSG00000166801:ENST00000361723:exon4:c.A672G:p.A224A,ENSG00000166801:ENST00000420244:exon5:c.A672G:p.A224A,ENSG00000166801:ENST00000528737:exon5:c.A672G:p.A224A NA NA 11q12.1 NA NA NA NA rs10896928 0.27 0.27 0.277 0.28115 0.2028 0.2917 0.2507 0.3971 0.2157 0.21 0.29 0.21 0.41 0.2299 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.443868 NA NA 0.212573 0.336438 NA 0.341 NA 5.0213936 1158 12 102117589 102117589 C T exonic CHPT1 NA synonymous SNV CHPT1:NM_020244:exon7:c.C1029T:p.N343N exonic ENSG00000111666 NA synonymous SNV ENSG00000111666:ENST00000229266:exon7:c.C1029T:p.N343N,ENSG00000111666:ENST00000549128:exon7:c.C1029T:p.N343N,ENSG00000111666:ENST00000549872:exon7:c.C1029T:p.N343N Score=627;Name=lod=472 NA 12q23.2 NA NA NA NA rs11082 0.69 0.69 0.706 0.698882 0.5239 0.8879 0.5504 0.8086 0.6411 0.52 0.9 0.57 0.8 0.598 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 -0.270192 NA NA 0.523499 0.766349 NA 0.58 NA 5.0212676 1158 6 159654994 159654994 A C exonic FNDC1 NA synonymous SNV FNDC1:NM_032532:exon11:c.A3450C:p.V1150V exonic ENSG00000164694 NA synonymous SNV ENSG00000164694:ENST00000340366:exon10:c.A3261C:p.V1087V,ENSG00000164694:ENST00000297267:exon11:c.A3450C:p.V1150V NA NA 6q25.3 NA Name=CTCF NA NA rs402388 0.8 0.8 0.768 0.786342 0.9085 0.627 0.8646 0.7133 0.8681 0.92 0.64 0.89 0.75 0.842 0.92 . . . . . . . . 1.000 P . . . . -1.021 T 0.030 T . 0.393 6.137 1.16 0.050 -0.155 2.651 0.393463 NA NA 0.894904 0.75755 NA 0.377 NA 5.0212626 1158 10 73121945 73121945 T C exonic SLC29A3 NA synonymous SNV SLC29A3:NM_018344:exon6:c.T1008C:p.G336G exonic ENSG00000198246 NA synonymous SNV ENSG00000198246:ENST00000373189:exon6:c.T1008C:p.G336G NA Name=Obesity-related traits 10q22.1 NA NA NA NA rs1084004 0.79 0.79 0.78 0.753794 0.8976 0.7153 0.6614 0.7466 0.7209 0.89 0.7 0.75 0.75 0.8302 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 -1.158347 NA NA 0.917674 0.766909 NA 0.855 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118375.2;CLNDSDB=.;CLNDSDBID=. 5.0211926 1158 9 139839904 139839904 T G exonic C8G NA synonymous SNV C8G:NM_000606:exon1:c.T132G:p.A44A exonic ENSG00000176919 NA synonymous SNV ENSG00000176919:ENST00000224181:exon1:c.T132G:p.A44A,ENSG00000176919:ENST00000371634:exon1:c.T132G:p.A44A NA NA 9q34.3 NA NA Name=9 NA rs2071006 0.56 0.56 0.605 0.567692 0.5417 0.6954 0.4179 0.5832 0.5481 0.53 0.72 0.42 0.52 0.5666 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.415951 1.415951 NA 0.537734 0.567661 NA 0.572 NA 5.0206326 1158 2 171260820 171260820 T C exonic MYO3B NA synonymous SNV MYO3B:NM_001083615:exon20:c.T2341C:p.L781L,MYO3B:NM_138995:exon20:c.T2341C:p.L781L exonic ENSG00000071909 NA synonymous SNV ENSG00000071909:ENST00000317935:exon20:c.T2341C:p.L781L,ENSG00000071909:ENST00000334231:exon20:c.T2368C:p.L790L,ENSG00000071909:ENST00000408978:exon20:c.T2341C:p.L781L,ENSG00000071909:ENST00000409044:exon20:c.T2341C:p.L781L,ENSG00000071909:ENST00000484338:exon20:c.T2368C:p.L790L Score=547;Name=lod=222 NA 2q31.1 Score=836;Name=V$NGFIC_01 NA NA NA rs6751520 0.79 0.79 0.781 0.78095 0.8966 0.7321 0.889 0.6846 0.7658 0.9 0.71 0.89 0.64 0.8509 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 1.125301 NA NA 0.899684 0.726534 NA 0.804 NA 5.0194826 1158 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 1158 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 1158 9 37492679 37492679 G T exonic POLR1E NA synonymous SNV POLR1E:NM_022490:exon5:c.G369T:p.A123A exonic ENSG00000137054 NA synonymous SNV ENSG00000137054:ENST00000377792:exon4:c.G555T:p.A185A,ENSG00000137054:ENST00000377798:exon5:c.G369T:p.A123A,ENSG00000137054:ENST00000442009:exon6:c.G159T:p.A53A NA NA 9p13.2 NA NA NA NA rs3739576 0.21 0.21 0.191 0.215256 0.2018 0.244 0.3112 0.1694 0.1933 0.2 0.22 0.26 0.19 0.2284 0.26 NA NA 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 0.217442 0.182932 NA 0.159 NA 5.0190246 1158 1 231401902 231401902 G A exonic GNPAT NA synonymous SNV GNPAT:NM_014236:exon7:c.G915A:p.E305E exonic ENSG00000116906 NA synonymous SNV ENSG00000116906:ENST00000366646:exon6:c.G732A:p.E244E,ENSG00000116906:ENST00000366647:exon7:c.G915A:p.E305E,ENSG00000116906:ENST00000416000:exon7:c.G885A:p.E295E Score=519;Name=lod=171 NA 1q42.2 NA NA NA NA rs574553 0.59 0.59 0.616 0.628594 0.5318 0.6339 0.6254 0.7012 0.6268 0.51 0.62 0.61 0.67 0.5676 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 -0.699663 NA NA 0.548372 0.685429 NA 0.623 NA 5.0188946 1158 9 136573412 136573412 G A exonic SARDH NA synonymous SNV SARDH:NM_001134707:exon11:c.C1467T:p.H489H,SARDH:NM_007101:exon11:c.C1467T:p.H489H exonic ENSG00000123453 NA synonymous SNV ENSG00000123453:ENST00000422262:exon10:c.C963T:p.H321H,ENSG00000123453:ENST00000371872:exon11:c.C1467T:p.H489H,ENSG00000123453:ENST00000427237:exon11:c.C1467T:p.H489H,ENSG00000123453:ENST00000439388:exon11:c.C1467T:p.H489H Score=437;Name=lod=80 NA 9q34.2 NA NA NA NA rs2073815 0.46 0.46 0.44 0.423922 0.5577 0.4891 0.464 0.2254 0.4591 0.56 0.48 0.47 0.26 0.512 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132723 NA NA 0.579302 0.270086 ID=COSM455557;OCCURENCE=2(breast) 0.442 NA 5.0176646 1158 19 10089262 10089262 G A exonic COL5A3 NA synonymous SNV COL5A3:NM_015719:exon41:c.C3006T:p.P1002P exonic ENSG00000080573 NA synonymous SNV ENSG00000080573:ENST00000264828:exon41:c.C3006T:p.P1002P NA NA 19p13.2 Score=801;Name=V$COMP1_01 NA NA NA rs12610207 0.63 0.63 0.705 0.648762 0.5229 0.5466 0.4798 0.9539 0.591 0.52 0.56 0.51 0.96 0.5779 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 -1.263689 NA NA 0.548488 0.882887 NA 0.652 NA 5.0173786 1158 7 73122923 73122923 A G exonic STX1A NA synonymous SNV STX1A:NM_001165903:exon3:c.T204C:p.D68D,STX1A:NM_004603:exon3:c.T204C:p.D68D exonic ENSG00000106089 NA synonymous SNV ENSG00000106089:ENST00000222812:exon3:c.T204C:p.D68D,ENSG00000106089:ENST00000395154:exon3:c.T204C:p.D68D,ENSG00000106089:ENST00000395155:exon3:c.T204C:p.D68D,ENSG00000106089:ENST00000395156:exon3:c.T204C:p.D68D Score=608;Name=lod=396 NA 7q11.23 NA NA NA NA rs2228607 0.49 0.49 0.485 0.457069 0.5596 0.4067 0.3948 0.5008 0.3885 0.56 0.42 0.43 0.51 0.5235 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.85686 NA NA 0.566279 0.505674 NA 0.536 NA 5.0172876 1158 4 83795806 83795806 T C exonic SEC31A NA synonymous SNV SEC31A:NM_001191049:exon5:c.A582G:p.R194R,SEC31A:NM_001077206:exon6:c.A597G:p.R199R,SEC31A:NM_001077207:exon6:c.A597G:p.R199R,SEC31A:NM_001077208:exon6:c.A597G:p.R199R,SEC31A:NM_014933:exon6:c.A597G:p.R199R,SEC31A:NM_016211:exon6:c.A597G:p.R199R exonic ENSG00000138674 NA synonymous SNV ENSG00000138674:ENST00000443462:exon5:c.A582G:p.R194R,ENSG00000138674:ENST00000500777:exon5:c.A597G:p.R199R,ENSG00000138674:ENST00000503058:exon5:c.A510G:p.R170R,ENSG00000138674:ENST00000505472:exon5:c.A597G:p.R199R,ENSG00000138674:ENST00000311785:exon6:c.A597G:p.R199R,ENSG00000138674:ENST00000326950:exon6:c.A597G:p.R199R,ENSG00000138674:ENST00000348405:exon6:c.A597G:p.R199R,ENSG00000138674:ENST00000395310:exon6:c.A597G:p.R199R,ENSG00000138674:ENST00000432794:exon6:c.A597G:p.R199R,ENSG00000138674:ENST00000448323:exon6:c.A597G:p.R199R,ENSG00000138674:ENST00000505984:exon6:c.A597G:p.R199R,ENSG00000138674:ENST00000508479:exon6:c.A597G:p.R199R,ENSG00000138674:ENST00000508502:exon6:c.A597G:p.R199R,ENSG00000138674:ENST00000509142:exon6:c.A597G:p.R199R,ENSG00000138674:ENST00000513858:exon6:c.A597G:p.R199R,ENSG00000138674:ENST00000355196:exon8:c.A597G:p.R199R Score=608;Name=lod=393 NA 4q21.22 NA NA NA NA rs10025654 0.39 0.39 0.316 0.352636 0.5616 0.2629 0.6758 0.1029 0.3384 0.56 0.28 0.63 0.08 0.5133 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.44669 1.44669 NA 0.574767 0.189968 NA 0.225 NA 5.0169996 1158 6 93982124 93982124 A G exonic EPHA7 NA synonymous SNV EPHA7:NM_004440:exon6:c.T1341C:p.S447S exonic ENSG00000135333 NA synonymous SNV ENSG00000135333:ENST00000369303:exon6:c.T1341C:p.S447S Score=795;Name=lod=2279 NA 6q16.1 Score=869;Name=V$HMX1_01 NA NA NA rs345713 0.89 0.89 0.896 0.900359 0.8926 0.8214 0.817 0.9894 0.9284 0.89 0.84 0.82 0.99 0.8735 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560086 NA NA 0.883578 0.976623 NA 0.928 NA 5.0169886 1158 10 43883342 43883342 T A UTR5 HNRNPF NM_004966:c.-10A>T,NM_001098208:c.-10A>T,NM_001098207:c.-10A>T,NM_001098206:c.-10A>T,NM_001098204:c.-10A>T,NM_001098205:c.-10A>T NA NA UTR5 ENSG00000169813 ENST00000443950:c.-10A>T,ENST00000544000:c.-10A>T,ENST00000356053:c.-10A>T,ENST00000357065:c.-10A>T,ENST00000337970:c.-10A>T NA NA NA NA 10q11.21 Score=974;Name=V$NKX25_01 NA Name=6 NA rs1126487 0.49 0.49 0.527 0.529553 0.4145 0.3036 0.3689 0.8971 0.498 0.41 0.3 0.4 0.91 0.459 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 -1.422237 NA NA 0.443669 0.819762 NA 0.609 NA 5.0161644 1158 1 222802926 222802926 C T exonic MIA3 NA synonymous SNV MIA3:NM_198551:exon4:c.C2364T:p.S788S exonic ENSG00000154305 NA synonymous SNV ENSG00000154305:ENST00000344441:exon4:c.C2364T:p.S788S,ENSG00000154305:ENST00000344922:exon4:c.C2364T:p.S788S NA NA 1q41 NA NA NA NA rs3008620 0.83 0.83 0.813 0.800519 0.8976 0.8899 0.9035 0.5711 0.8456 0.89 0.9 0.89 0.6 0.8685 0.9 . . . . . . . . 1.000 P . . . . . . . . . -0.159 3.223 -1.42 -0.919 -1.003 0.587 -0.159105 NA NA 0.884494 0.614026 NA 0.804 NA 5.0160726 1158 12 24985653 24985653 G A intronic BCAT1 NA NA NA ncRNA_intronic ENSG00000256482 NA NA NA Score=361;Name=lod=39 NA 12p12.1 NA NA NA NA rs3736212 0.08 0.08 0.085 0.0656949 0.1064 0.0962 0.0836 0.0061 0.0603 0.11 0.11 0.1 0.01 0.1078 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 0.049084 NA NA 0.103077 0.021149 NA 0.152 NA 5.0160563 1158 17 72851133 72851133 A G exonic GRIN2C NA synonymous SNV GRIN2C:NM_000835:exon2:c.T99C:p.A33A exonic ENSG00000161509 NA synonymous SNV ENSG00000161509:ENST00000293190:exon2:c.T99C:p.A33A,ENSG00000161509:ENST00000347612:exon2:c.T99C:p.A33A Score=508;Name=lod=155 NA 17q25.1 Score=784;Name=V$COMP1_01 NA NA NA rs689730 0.82 0.82 0.826 0.795927 0.8897 0.7341 0.7954 0.8109 0.7434 0.9 0.75 0.81 0.78 0.8568 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 0.584289 NA NA 0.904374 0.821364 ID=COSM437342,COSM1479984;OCCURENCE=1(breast) 0.841 NA 5.0157926 1158 20 1293008 1293008 C T exonic SDCBP2 NA synonymous SNV SDCBP2:NM_015685:exon3:c.G450A:p.V150V,SDCBP2:NM_001199784:exon7:c.G705A:p.V235V,SDCBP2:NM_080489:exon7:c.G705A:p.V235V exonic ENSG00000125775 NA synonymous SNV ENSG00000125775:ENST00000381808:exon3:c.G450A:p.V150V,ENSG00000125775:ENST00000339987:exon7:c.G705A:p.V235V,ENSG00000125775:ENST00000360779:exon7:c.G705A:p.V235V,ENSG00000125775:ENST00000381812:exon7:c.G705A:p.V235V Score=535;Name=lod=199 NA 20p13 NA NA NA NA rs2273958 0.67 0.67 0.639 0.665335 0.5427 0.9077 0.6066 0.5613 0.7239 0.56 0.9 0.59 0.61 0.6033 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 -0.51004 NA NA 0.504884 0.562216 ID=COSM1410389,COSM1410390,COSM1410388;OCCURENCE=1(large_intestine) 0.674 NA 5.0157826 1158 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 1158 3 13383540 13383540 A G exonic NUP210 NA synonymous SNV NUP210:NM_024923:exon22:c.T3048C:p.F1016F exonic ENSG00000132182 NA synonymous SNV ENSG00000132182:ENST00000254508:exon22:c.T3048C:p.F1016F Score=450;Name=lod=90 NA 3p25.1 NA NA NA NA rs2271504 0.57 0.57 0.6 0.576677 0.5457 0.4008 0.4467 0.9017 0.4427 0.53 0.42 0.48 0.88 0.5403 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 -0.427909 NA NA 0.565 0.83636 NA 0.732 NA 5.0156666 1158 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 1159 15 90138670 90138670 C T exonic TICRR NA synonymous SNV TICRR:NM_152259:exon7:c.C1728T:p.C576C exonic ENSG00000140534 NA synonymous SNV ENSG00000140534:ENST00000268138:exon7:c.C1728T:p.C576C,ENSG00000140534:ENST00000560985:exon7:c.C1725T:p.C575C Score=596;Name=lod=353 NA 15q26.1 NA NA Name=31 NA rs8042146 0.78 0.78 0.77 0.762979 0.8936 0.7292 0.7522 0.652 0.8211 0.9 0.72 0.78 0.65 0.8479 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 1.283299 1.283299 NA 0.910654 0.702541 ID=COSM147977;OCCURENCE=1(stomach) 0.739 NA 5.0145126 1159 11 19955500 19955500 A G exonic NAV2 NA synonymous SNV NAV2:NM_001111018:exon7:c.A1518G:p.K506K,NAV2:NM_145117:exon7:c.A1710G:p.K570K,NAV2:NM_182964:exon7:c.A1710G:p.K570K,NAV2:NM_001244963:exon8:c.A1779G:p.K593K exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000349880:exon7:c.A1710G:p.K570K,ENSG00000166833:ENST00000360655:exon7:c.A1518G:p.K506K,ENSG00000166833:ENST00000396085:exon7:c.A1710G:p.K570K,ENSG00000166833:ENST00000396087:exon8:c.A1779G:p.K593K,ENSG00000166833:ENST00000527559:exon9:c.A1566G:p.K522K,ENSG00000166833:ENST00000540292:exon9:c.A1572G:p.K524K Score=309;Name=lod=24 NA 11p15.1 Score=790;Name=V$STAT3_01 NA NA NA rs1372989 0.75 0.75 0.753 0.733427 0.9066 0.6438 0.7911 0.6452 0.726 0.9 0.62 0.79 0.64 0.8245 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 -0.430473 NA NA 0.921267 0.675307 NA 0.862 NA 5.0142996 1159 11 64898226 64898226 C T exonic SYVN1 NA synonymous SNV SYVN1:NM_032431:exon11:c.G1011A:p.S337S,SYVN1:NM_172230:exon11:c.G1011A:p.S337S exonic ENSG00000162298 NA synonymous SNV ENSG00000162298:ENST00000307289:exon9:c.G858A:p.S286S,ENSG00000162298:ENST00000294256:exon11:c.G1011A:p.S337S,ENSG00000162298:ENST00000377190:exon11:c.G1011A:p.S337S,ENSG00000162298:ENST00000526060:exon11:c.G1011A:p.S337S NA NA 11q13.1 NA NA NA NA rs9971407 0.14 0.14 0.145 0.13119 0.2266 0.0615 0.1556 0.1051 0.1227 0.22 0.06 0.17 0.1 0.1906 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220253 NA NA 0.235849 0.119091 ID=COSM330243;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.065 NA 5.0136176 1159 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 1159 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 1159 11 122742154 122742154 C A UTR3 CRTAM NM_019604:c.*47C>A NA NA UTR3 ENSG00000109943 ENST00000227348:c.*47C>A,ENST00000533709:c.*47C>A NA NA NA NA 11q24.1 NA Name=GATA3_(SC-268),GATA-2 NA NA rs56148911 0.09 0.09 0.076 0.091853 0.1103 0.0337 0.0677 0.1475 0.0746 0.1 0.03 0.08 0.16 0.0994 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054921 NA NA 0.111305 0.152589 ID=COSN164072;OCCURENCE=1(breast) 0.051 NA 5.0123284 1159 2 71633275 71633275 T C exonic ZNF638 NA synonymous SNV ZNF638:NM_001014972:exon19:c.T3018C:p.I1006I,ZNF638:NM_001252612:exon19:c.T3018C:p.I1006I,ZNF638:NM_001252613:exon19:c.T3018C:p.I1006I,ZNF638:NM_014497:exon19:c.T3018C:p.I1006I exonic ENSG00000075292 NA synonymous SNV ENSG00000075292:ENST00000264447:exon19:c.T3018C:p.I1006I,ENSG00000075292:ENST00000355812:exon19:c.T3018C:p.I1006I,ENSG00000075292:ENST00000409544:exon19:c.T3018C:p.I1006I Score=355;Name=lod=37 NA 2p13.2 NA NA NA NA rs3732233 0.42 0.42 0.388 0.41234 0.5517 0.2927 0.6398 0.1649 0.5654 0.54 0.34 0.59 0.21 0.5246 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33532 NA NA 0.57814 0.233545 NA 0.413 NA 5.0122266 1159 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 1159 18 10526187 10526187 A G intronic NAPG NA NA NA intronic ENSG00000134265 NA NA NA NA NA 18p11.22 NA Name=HA-E2F1,Pol2,Pol2-4H8,TAF1,YY1_(C-20),YY1,TBP 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 1159 3 196613075 196613075 C T exonic SENP5 NA synonymous SNV SENP5:NM_152699:exon2:c.C1023T:p.D341D exonic ENSG00000119231 NA synonymous SNV ENSG00000119231:ENST00000323460:exon2:c.C1023T:p.D341D,ENSG00000119231:ENST00000445299:exon2:c.C1023T:p.D341D NA NA 3q29 NA NA NA NA rs34533379 0.21 0.21 0.23 0.236821 0.2346 0.1667 0.1239 0.3555 0.2311 0.22 0.13 0.14 0.33 0.2068 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037284 NA NA 0.214419 0.326373 NA 0.188 NA 5.0108476 1159 15 63449543 63449543 A C intronic RPS27L NA NA NA intronic ENSG00000185088 NA NA NA NA NA 15q22.2 NA Name=PAX5-C20,NRSF,Mxi1_(bHLH),THAP1_(SC-98174),Sin3Ak-20,c-Myc,Oct-2,Max,FOXA2_(SC-6554),ZNF263,GTF2F1_(RAP-74),NANOG_(SC-33759),ZBTB7A_(SC-34508),ELK4,PAX5-N19,Pol2(b),TBP,CCNT2,Egr-1,POU2F2,E2F6,Ini1,TAF7_(SQ-8),GATA2_(CG2-96),FOXA1_(SC-101058),HA-E2F1,Pol2,FOXA1_(C-20),USF-1,BCLAF1_(M33-P5B11),HEY1,KAP1,ELF1_(SC-631),ETS1,Pol2-4H8,MEF2A,HMGN3,TAF1,NFKB 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 1159 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 1159 3 53925849 53925849 C T UTR5 SELK NM_021237:c.-34G>A NA NA UTR5 ENSG00000113811 ENST00000495461:c.-34G>A,ENST00000541726:c.-34G>A,ENST00000488746:c.-34G>A NA NA NA NA 3p21.1 NA Name=SP1,Oct-2,MafF_(M8194),Sin3Ak-20,PU.1,TBP,Pol2(b),MafK_(SC-477),HA-E2F1,CHD2_(N-1250),USF-1,Pol2,E2F6_(H-50),MafK_(ab50322),POU2F2,Pol2-4H8,NFKB,TAF1,RFX5_(N-494),GATA-1,NF-YA,HEY1 NA NA rs2276848 0.14 0.14 0.124 0.172923 0.0915 0.247 0.1311 0.1384 0.2566 0.09 0.22 0.1 0.17 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 1.445646 1.445646 NA 0.100679 0.140355 NA 0.145 NA 5.0101544 1159 10 99160046 99160046 C T intronic RRP12 NA NA NA intronic ENSG00000052749 NA NA NA NA NA 10q24.1 NA Name=JunD,FOSL1_(SC-183),Sin3Ak-20,eGFP-JunD,GABP,c-Jun,TAF1,Pol2 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 1159 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 1159 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 1159 9 132866883 132866883 T C intronic GPR107 NA NA NA intronic ENSG00000148358 NA NA NA NA NA 9q34.11 NA Name=CTCF Name=16 NA rs7868997 0.99 0.99 0.995 0.986022 0.992 1 0.9841 0.9887 0.9632 0.99 1 0.99 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 0.389404 NA NA NA NA NA 1 NA 5.008 1159 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 1159 11 119999191 119999191 A G exonic TRIM29 NA synonymous SNV TRIM29:NM_012101:exon2:c.T817C:p.L273L exonic ENSG00000137699 NA synonymous SNV ENSG00000137699:ENST00000341846:exon2:c.T817C:p.L273L,ENSG00000137699:ENST00000529044:exon2:c.T34C:p.L12L,ENSG00000137699:ENST00000541857:exon2:c.T16C:p.L6L Score=507;Name=lod=154 NA 11q23.3 Score=956;Name=V$MEIS1_01 NA NA NA rs569044 0.92 0.92 0.919 0.925719 0.8569 0.9583 0.8761 0.9917 0.909 0.86 0.97 0.87 0.99 0.9099 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 1.156056 NA NA 0.892782 0.976353 NA 0.957 NA 5.0070846 1159 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 1159 5 150914184 150914184 A T exonic FAT2 NA synonymous SNV FAT2:NM_001447:exon12:c.T9213A:p.T3071T exonic ENSG00000086570 NA synonymous SNV ENSG00000086570:ENST00000261800:exon12:c.T9213A:p.T3071T NA NA 5q33.1 NA Name=Max NA NA rs1432643 0.64 0.64 0.62 0.632788 0.5298 0.8085 0.6585 0.4932 0.728 0.54 0.84 0.66 0.53 0.5901 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 0.755016 NA NA 0.539767 0.486382 NA 0.565 NA 5.0069996 1159 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 1159 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 1159 9 101006436 101006436 C A intronic TBC1D2 NA NA NA intronic ENSG00000095383 NA NA NA NA NA 9q22.33 NA Name=AP-2alpha,AP-2gamma,c-Myc,ERalpha_a Name=16 NA rs10818668 0.4 0.4 0.417 0.405551 0.338 0.1756 0.3372 0.7761 0.2597 0.36 0.17 0.36 0.76 0.3406 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 1.138847 NA NA 0.315349 0.714934 NA 0.464 NA 5.006051 1159 19 18279638 18279638 T C exonic PIK3R2 NA synonymous SNV PIK3R2:NM_005027:exon15:c.T1911C:p.S637S exonic ENSG00000105647,ENSG00000268173 NA synonymous SNV ENSG00000105647:ENST00000222254:exon15:c.T1911C:p.S637S,ENSG00000268173:ENST00000593731:exon15:c.T1911C:p.S637S NA NA 19p13.11 Score=849;Name=V$NFY_C NA Name=5 NA rs273269 0.88 0.88 0.87 0.86242 0.8946 0.9365 0.8501 0.7821 0.8701 0.9 0.93 0.85 0.8 0.88 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 0.680217 NA NA 0.886279 0.782342 NA 0.877 NA 5.0057876 1159 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 1159 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$CART1_01 NA NA NA rs1047214 0.69 0.69 0.728 0.70028 0.5447 0.8115 0.5014 0.9395 0.5634 0.56 0.8 0.51 0.91 0.5864 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074254 NA NA 0.530116 0.871766 NA 0.696 NA 5.0054506 1159 19 48244569 48244569 G A exonic EHD2 NA synonymous SNV EHD2:NM_014601:exon6:c.G1512A:p.E504E exonic ENSG00000024422 NA synonymous SNV ENSG00000024422:ENST00000538399:exon5:c.G1104A:p.E368E,ENSG00000024422:ENST00000263277:exon6:c.G1512A:p.E504E Score=634;Name=lod=504 NA 19q13.33 NA NA NA NA rs3745758 0.46 0.46 0.414 0.452276 0.5497 0.5536 0.4885 0.1309 0.6564 0.56 0.56 0.51 0.16 0.539 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.92866 NA NA 0.572558 0.210395 NA 0.514 NA 5.0054086 1159 2 24905927 24905927 G C exonic NCOA1 NA synonymous SNV NCOA1:NM_003743:exon6:c.G462C:p.T154T,NCOA1:NM_147223:exon6:c.G462C:p.T154T,NCOA1:NM_147233:exon6:c.G462C:p.T154T exonic ENSG00000084676 NA synonymous SNV ENSG00000084676:ENST00000288599:exon6:c.G462C:p.T154T,ENSG00000084676:ENST00000348332:exon6:c.G462C:p.T154T,ENSG00000084676:ENST00000395856:exon6:c.G462C:p.T154T,ENSG00000084676:ENST00000407230:exon6:c.G9C:p.T3T,ENSG00000084676:ENST00000538539:exon7:c.G462C:p.T154T,ENSG00000084676:ENST00000406961:exon8:c.G462C:p.T154T,ENSG00000084676:ENST00000405141:exon9:c.G462C:p.T154T Score=703;Name=lod=960 NA 2p23.3 Score=819;Name=V$HNF1_01 NA NA NA rs11125744 0.84 0.84 0.815 0.80651 0.8966 0.996 0.9063 0.5242 0.8292 0.89 0.99 0.9 0.52 0.8689 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 1.037174 NA NA 0.89593 0.572628 NA 0.768 NA 5.0052366 1160 5 148997686 148997686 A G intronic ARHGEF37 NA NA NA intronic ENSG00000183111 NA NA NA NA NA 5q32 NA Name=PU.1,PAX5-N19,EBF,ERalpha_a,PAX5-C20,EBF1_(C-8),ELF1_(SC-631) Name=23 NA rs6579750 0.93 0.93 0.913 0.918131 0.995 1 0.9769 0.7057 1 1 1 0.98 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 0.868479 NA NA NA NA NA 0.899 NA 5.005 1160 6 24559281 24559281 A G exonic KIAA0319 NA synonymous SNV KIAA0319:NM_001252328:exon13:c.T927C:p.A309A,KIAA0319:NM_001168376:exon16:c.T2559C:p.A853A,KIAA0319:NM_001168375:exon17:c.T2694C:p.A898A,KIAA0319:NM_001168377:exon17:c.T2694C:p.A898A,KIAA0319:NM_014809:exon17:c.T2694C:p.A898A,KIAA0319:NM_001168374:exon18:c.T2667C:p.A889A exonic ENSG00000137261 NA synonymous SNV ENSG00000137261:ENST00000430948:exon16:c.T2559C:p.A853A,ENSG00000137261:ENST00000378214:exon17:c.T2694C:p.A898A,ENSG00000137261:ENST00000537886:exon17:c.T2694C:p.A898A,ENSG00000137261:ENST00000543707:exon17:c.T2694C:p.A898A,ENSG00000137261:ENST00000535378:exon18:c.T2667C:p.A889A NA NA 6p22.3 NA NA NA NA rs807541 0.16 0.16 0.152 0.173522 0.2177 0.1091 0.1686 0.1392 0.2444 0.22 0.11 0.17 0.14 0.2227 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.025053 NA NA 0.221279 0.145483 NA 0.232 NA 5.0049876 1160 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 1160 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 1160 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 1160 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 1160 9 79318998 79318998 A G exonic PRUNE2 NA nonsynonymous SNV PRUNE2:NM_015225:exon9:c.T7531C:p.S2511P exonic ENSG00000106772 NA nonsynonymous SNV ENSG00000106772:ENST00000376718:exon9:c.T7531C:p.S2511P,ENSG00000106772:ENST00000428286:exon9:c.T6454C:p.S2152P NA NA 9q21.2 NA NA NA NA rs620552 0.81 0.81 0.803 0.784345 0.7714 0.9127 0.8228 0.6914 0.7638 0.76 0.95 0.81 0.74 0.7954 0.95 0.16 T 0.0 B 0.0 B 0.115 N 1.000 P 0.84 L 0.96 T -0.930 T 0.000 T 0.241 2.289 13.61 1.82 0.101 -0.256 3.776 2.289312 2.289312 0.13 0.762423 0.70727 NA 0.761 NA 5.0041104 1160 3 195453064 195453064 T G exonic MUC20 NA synonymous SNV MUC20:NM_001098516:exon2:c.T972G:p.L324L,MUC20:NM_152673:exon3:c.T1077G:p.L359L exonic ENSG00000176945 NA synonymous SNV ENSG00000176945:ENST00000445522:exon1:c.T1485G:p.L495L,ENSG00000176945:ENST00000436408:exon2:c.T1590G:p.L530L,ENSG00000176945:ENST00000447234:exon2:c.T1590G:p.L530L,ENSG00000176945:ENST00000320736:exon3:c.T1077G:p.L359L NA NA 3q29 Score=771;Name=V$HTF_01 NA NA NA rs2550233 0.86 0.86 0.879 NA NA NA NA NA NA 0.85 0.81 0.73 0.99 0.8209 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.158628 NA NA 0.841804 0.969453 NA 0.913 NA 5.0039626 1160 20 44506418 44506418 G A exonic ZSWIM3 NA synonymous SNV ZSWIM3:NM_080752:exon2:c.G1221A:p.R407R exonic ENSG00000132801 NA synonymous SNV ENSG00000132801:ENST00000255152:exon2:c.G1221A:p.R407R,ENSG00000132801:ENST00000454862:exon3:c.G1203A:p.R401R NA NA 20q13.12 Score=767;Name=V$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 1160 9 79318677 79318677 T C exonic PRUNE2 NA nonsynonymous SNV PRUNE2:NM_015225:exon9:c.A7852G:p.S2618G exonic ENSG00000106772 NA nonsynonymous SNV ENSG00000106772:ENST00000376718:exon9:c.A7852G:p.S2618G,ENSG00000106772:ENST00000428286:exon9:c.A6775G:p.S2259G NA NA 9q21.2 NA NA NA NA rs561970 0.81 0.81 0.805 0.784545 0.7714 0.9127 0.8228 0.6914 0.7648 0.76 0.95 0.81 0.74 0.7954 0.95 1 T 0.0 B 0.0 B 0.000 N 1.000 P -0.805 N 1.01 T -0.974 T 0.000 T 0.17 -2.445 0.003 0.474 -0.138 0.109 6.389 -2.444966 NA 1 0.762982 0.709503 NA 0.761 NA 5.0035514 1160 4 178274835 178274835 A C exonic NEIL3 NA nonsynonymous SNV NEIL3:NM_018248:exon8:c.A1413C:p.Q471H exonic ENSG00000109674 NA nonsynonymous SNV ENSG00000109674:ENST00000264596:exon8:c.A1413C:p.Q471H NA NA 4q34.3 NA NA NA NA rs13112390 0.67 0.67 0.658 0.66254 0.8022 0.4474 0.7089 0.7118 0.6411 0.8 0.44 0.74 0.7 0.7337 0.8 0.82 T 0.0 B 0.0 B 0.000 N 1.000 P -1.905 N 3.81 T -1.063 T 0.000 T 0.052 -1.251 0.051 -1.15 -0.566 -0.182 1.402 -1.250706 NA 0.8 0.794419 0.725601 ID=COSM1131168,COSM1428751;OCCURENCE=1(prostate),1(large_intestine) 0.696 NA 5.0030144 1160 12 58009372 58009372 G A exonic ARHGEF25 NA synonymous SNV ARHGEF25:NM_182947:exon12:c.G1116A:p.L372L,ARHGEF25:NM_001111270:exon13:c.G1233A:p.L411L exonic ENSG00000240771 NA synonymous SNV ENSG00000240771:ENST00000286494:exon12:c.G1116A:p.L372L,ENSG00000240771:ENST00000333972:exon13:c.G1233A:p.L411L NA NA 12q13.3 NA NA NA NA rs2277323 0.18 0.18 0.152 0.16853 0.2197 0.1468 0.2839 0.0779 0.1789 0.23 0.16 0.25 0.09 0.211 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.474599 NA NA 0.233023 0.097821 ID=COSM147555;OCCURENCE=1(stomach) 0.145 NA 5.0029436 1160 11 903070 903070 G C exonic CHID1 NA synonymous SNV CHID1:NM_001142675:exon3:c.C153G:p.V51V,CHID1:NM_001142677:exon3:c.C153G:p.V51V,CHID1:NM_023947:exon3:c.C153G:p.V51V,CHID1:NM_001142674:exon4:c.C153G:p.V51V,CHID1:NM_001142676:exon4:c.C228G:p.V76V exonic ENSG00000177830 NA nonsynonymous SNV ENSG00000177830:ENST00000528426:exon5:c.C251G:p.S84W Score=391;Name=lod=52 NA 11p15.5 Score=853;Name=V$CREB_02 NA NA NA rs28380110 0.99 0.99 0.994 0.991414 1 1 0.9971 0.969 1 1 1 0.99 0.98 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 0.543272 NA NA 0.999884 0.974126 NA 0.993 NA 5.002616 1160 11 124266912 124266912 A G exonic OR8B3 NA synonymous SNV OR8B3:NM_001005467:exon1:c.T336C:p.C112C exonic ENSG00000196661 NA synonymous SNV ENSG00000196661:ENST00000354597:exon1:c.T336C:p.C112C NA NA 11q24.2 NA Name=MafK_(ab50322) NA NA rs28398895 0.89 0.89 0.957 0.873403 0.8419 0.8641 0.8256 0.9009 0.9121 0.86 0.89 0.89 0.92 0.8222 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 -1.207081 NA NA NA NA NA 0.667 NA 5.0025666 1160 11 92088177 92088177 C T exonic FAT3 NA synonymous SNV FAT3:NM_001008781:exon1:c.C2899T:p.L967L exonic ENSG00000165323 NA synonymous SNV ENSG00000165323:ENST00000298047:exon1:c.C2899T:p.L967L,ENSG00000165323:ENST00000409404:exon1:c.C2899T:p.L967L,ENSG00000165323:ENST00000525166:exon1:c.C2449T:p.L817L,ENSG00000165323:ENST00000541502:exon1:c.C2899T:p.L967L NA NA 11q14.3 NA NA NA NA rs7479732 0.33 0.33 0.354 0.351038 0.2038 0.1746 0.1801 0.8079 0.1881 0.21 0.17 0.19 0.78 0.2449 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 -0.883093 NA NA 0.215448 0.669055 ID=COSM1357726,COSM1357727;OCCURENCE=1(large_intestine) 0.362 NA 5.0025186 1160 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=Pol2,GR 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 1160 14 72117156 72117156 T C exonic SIPA1L1 NA synonymous SNV SIPA1L1:NM_015556:exon5:c.T1923C:p.F641F exonic ENSG00000197555 NA synonymous SNV ENSG00000197555:ENST00000555066:exon3:c.T471C:p.F157F,ENSG00000197555:ENST00000537413:exon4:c.T348C:p.F116F,ENSG00000197555:ENST00000358550:exon5:c.T1923C:p.F641F,ENSG00000197555:ENST00000381232:exon5:c.T1923C:p.F641F,ENSG00000197555:ENST00000555818:exon5:c.T1923C:p.F641F Score=474;Name=lod=113 NA 14q24.2 NA NA Name=16 NA rs8017465 0.94 0.94 0.942 0.957468 0.8787 1 0.9236 0.9932 0.9703 0.88 1 0.91 0.99 0.9119 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346897 NA NA 0.87407 0.974353 NA 0.884 NA 5.0019966 1160 7 112724417 112724417 A G exonic GPR85 NA synonymous SNV GPR85:NM_001146266:exon2:c.T360C:p.Y120Y,GPR85:NM_001146265:exon3:c.T360C:p.Y120Y,GPR85:NM_001146267:exon3:c.T360C:p.Y120Y,GPR85:NM_018970:exon3:c.T360C:p.Y120Y exonic ENSG00000164604 NA synonymous SNV ENSG00000164604:ENST00000449591:exon2:c.T360C:p.Y120Y,ENSG00000164604:ENST00000449735:exon2:c.T360C:p.Y120Y,ENSG00000164604:ENST00000297146:exon3:c.T360C:p.Y120Y,ENSG00000164604:ENST00000424100:exon3:c.T360C:p.Y120Y,ENSG00000164604:ENST00000501255:exon3:c.T360C:p.Y120Y Score=756;Name=lod=1577 NA 7q31.1 Score=813;Name=V$CHX10_01 NA NA NA rs2256044 0.93 0.93 0.919 0.911741 0.8847 0.9722 0.928 0.9357 0.8333 0.89 0.97 0.93 0.93 0.8914 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 -0.224488 NA NA 0.888605 0.92374 NA 0.906 NA 5.0019616 1160 4 177249533 177249533 A G UTR3 SPCS3 NM_021928:c.*52A>G NA NA UTR3 ENSG00000129128 ENST00000503362:c.*52A>G NA NA Score=701;Name=lod=943 NA 4q34.2 NA NA NA NA rs2278903 0.17 0.17 0.17 0.163738 0.1809 0.3244 0.0865 0.0356 0.2086 0.18 0.32 0.11 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 1.892304 1.892304 NA 0.150556 0.045005 NA 0.152 NA 5.0018774 1160 6 46826979 46826979 A G exonic GPR116 NA synonymous SNV GPR116:NM_001098518:exon17:c.T2661C:p.Y887Y,GPR116:NM_015234:exon17:c.T2661C:p.Y887Y exonic ENSG00000069122 NA synonymous SNV ENSG00000069122:ENST00000545669:exon7:c.T948C:p.Y316Y,ENSG00000069122:ENST00000456426:exon15:c.T2235C:p.Y745Y,ENSG00000069122:ENST00000265417:exon17:c.T2661C:p.Y887Y,ENSG00000069122:ENST00000283296:exon17:c.T2661C:p.Y887Y,ENSG00000069122:ENST00000362015:exon17:c.T2661C:p.Y887Y NA NA 6p12.3 NA NA NA NA rs9381487 0.31 0.31 0.326 0.321286 0.1998 0.3621 0.2839 0.3714 0.363 0.22 0.39 0.28 0.4 0.2576 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.100915 NA NA 0.207442 0.332274 NA 0.246 NA 5.0018246 1160 2 150432976 150432976 C T exonic MMADHC NA synonymous SNV MMADHC:NM_015702:exon5:c.G453A:p.Q151Q exonic ENSG00000168288 NA synonymous SNV ENSG00000168288:ENST00000428879:exon4:c.G453A:p.Q151Q,ENSG00000168288:ENST00000303319:exon5:c.G453A:p.Q151Q,ENSG00000168288:ENST00000422782:exon5:c.G453A:p.Q151Q Score=590;Name=lod=333 NA 2q23.2 Score=988;Name=V$P53_02 NA NA NA rs11545261 0.78 0.78 0.765 0.759585 0.8907 0.876 0.7954 0.447 0.9018 0.9 0.87 0.83 0.44 0.8681 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 1.007976 NA NA 0.906047 0.516114 NA 0.667 NA 5.0018196 1160 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 1160 22 37964299 37964299 C G exonic CDC42EP1 NA synonymous SNV CDC42EP1:NM_152243:exon3:c.C648G:p.L216L exonic ENSG00000128283 NA synonymous SNV ENSG00000128283:ENST00000249014:exon3:c.C648G:p.L216L Score=471;Name=lod=109 NA 22q13.1 NA NA NA NA rs2281098 0.45 0.45 0.386 0.459265 0.5626 0.3204 0.6297 0.3154 0.5695 0.58 0.29 0.57 0.34 0.5322 0.58 NA NA 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 0.57083 0.34287 NA 0.435 NA 5.0010366 1160 10 100022446 100022446 A G intronic LOXL4 NA NA NA intronic ENSG00000138131 NA NA NA NA NA 10q24.2 NA Name=USF2,USF-1,CTCF,CTCF_(SC-5916),CTCF_(C-20),Rad21,SMC3_(ab9263) Name=108 NA rs10736125 0.97 0.97 0.96 0.96266 0.999 1 0.9957 0.8616 1 1 1 0.99 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 0.739642 NA NA NA NA NA 0.906 NA 5.001 1160 7 22202117 22202117 G A exonic RAPGEF5 NA synonymous SNV RAPGEF5:NM_012294:exon13:c.C867T:p.D289D exonic ENSG00000136237 NA synonymous SNV ENSG00000136237:ENST00000401957:exon3:c.C417T:p.D139D,ENSG00000136237:ENST00000458533:exon5:c.C81T:p.D27D,ENSG00000136237:ENST00000344041:exon13:c.C867T:p.D289D Score=657;Name=lod=625 NA 7p15.3 NA NA NA NA rs12592 0.6 0.6 0.608 0.594249 0.5557 0.6062 0.438 0.6815 0.6145 0.55 0.59 0.49 0.75 0.5594 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 0.880869 NA NA 0.550918 0.658709 NA 0.58 NA 5.0006486 1160 16 83065664 83065664 G A exonic CDH13 NA synonymous SNV CDH13:NM_001220489:exon3:c.G207A:p.S69S,CDH13:NM_001220491:exon3:c.G207A:p.S69S,CDH13:NM_001220492:exon3:c.G207A:p.S69S,CDH13:NM_001257:exon3:c.G207A:p.S69S,CDH13:NM_001220488:exon4:c.G348A:p.S116S exonic ENSG00000140945 NA synonymous SNV ENSG00000140945:ENST00000428848:exon3:c.G207A:p.S69S,ENSG00000140945:ENST00000431540:exon3:c.G207A:p.S69S,ENSG00000140945:ENST00000446376:exon3:c.G207A:p.S69S,ENSG00000140945:ENST00000565636:exon3:c.G207A:p.S69S,ENSG00000140945:ENST00000566620:exon3:c.G207A:p.S69S,ENSG00000140945:ENST00000268613:exon4:c.G348A:p.S116S Score=486;Name=lod=126 NA 16q23.3 NA NA NA NA rs6565105 0.54 0.54 0.534 0.534145 0.5298 0.4573 0.5821 0.559 0.5501 0.57 0.42 0.61 0.57 0.582 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.413902 1.413902 NA 0.554293 0.551733 NA 0.457 NA 5.0005736 1160 17 34340284 34340284 C T exonic CCL23 NA nonsynonymous SNV CCL23:NM_005064:exon4:c.G367A:p.V123M,CCL23:NM_145898:exon4:c.G316A:p.V106M exonic ENSG00000167236 NA nonsynonymous SNV ENSG00000167236:ENST00000293280:exon4:c.G367A:p.V123M,ENSG00000167236:ENST00000591423:exon4:c.G316A:p.V106M NA NA 17q12 NA NA NA NA rs1003645 0.58 0.58 0.517 0.520767 0.8062 0.5744 0.719 0.1044 0.5941 0.81 0.56 0.74 0.13 0.7125 0.81 1 T 0.007 B 0.015 B 0.426 N 1.000 P -0.965 N 3.68 T -1.006 T 0.000 T 0.072 -0.794 0.693 -0.245 -0.566 -0.206 4.341 -0.793645 NA 0.92 0.81407 0.199728 NA 0.514 NA 5.0005634 1160 1 205897913 205897913 T G intronic SLC26A9 NA NA NA intronic ENSG00000174502 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 0.150557 NA NA NA NA NA NA NA 5 1160 3 197672468 197672468 A C intronic IQCG NA NA NA intronic ENSG00000114473 NA NA NA NA NA 3q29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286046 NA NA NA NA NA NA NA 5 1160 4 95506906 95506906 T C intronic PDLIM5 NA NA NA intronic ENSG00000163110 NA NA NA NA NA 4q22.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076643 NA NA NA NA NA NA NA 5 1160 5 1057536 1057536 C T intronic SLC12A7 NA NA NA intronic ENSG00000113504 NA NA NA NA NA 5p15.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760888 NA NA NA NA NA NA NA 5 1160 8 68931972 68931972 A T intronic PREX2 NA NA NA intronic ENSG00000046889 NA NA NA NA NA 8q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.255342 NA NA NA NA NA NA NA 5 1160 9 6990411 6990411 A G intronic KDM4C NA NA NA intronic ENSG00000107077 NA NA NA NA NA 9p24.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687511 NA NA NA NA NA NA NA 5 1160 11 116827642 116827642 T G intronic SIK3 NA NA NA intronic ENSG00000160584 NA NA NA NA NA 11q23.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.19594 NA NA NA NA NA NA NA 5 1160 12 53708011 53708011 G C intronic AAAS NA NA NA intronic ENSG00000094914 NA NA NA NA NA 12q13.13 NA Name=CEBPB,PU.1 Name=8 NA rs7953255 0.95 0.95 0.948 0.9375 1 0.999 0.9914 0.7958 0.9632 1 1 0.99 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 0.188488 NA NA NA NA NA 0.928 NA 5 1160 12 133353168 133353168 C T intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA NA NA 12q24.33 NA Name=Pol2 NA NA rs7303430 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814206 NA NA NA NA NA NA NA 5 1160 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 1160 14 75551442 75551442 A C intronic NEK9 NA NA NA intronic ENSG00000119638 NA NA NA NA NA 14q24.3 NA Name=c-Myc,Rad21,CTCF_(SC-5916),CTCF_(C-20),CTCF Name=28 NA rs175486 0.99 0.99 0.995 0.989217 1 1 0.9928 0.9629 1 1 1 0.99 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 0.610035 NA NA NA NA NA 0.986 NA 5 1160 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 1160 15 20867353 20867353 C T intergenic GOLGA8CP,NBEAP1 dist=86327;dist=7444 NA NA ncRNA_exonic ENSG00000258590 NA NA NA Score=617;Name=lod=431 NA 15q11.2 NA NA NA NA rs28707283 NA NA 0.212 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 0.612775 NA NA NA NA NA 0.159 NA 5 1160 15 20867370 20867370 T C intergenic GOLGA8CP,NBEAP1 dist=86344;dist=7427 NA NA ncRNA_exonic ENSG00000258590 NA NA NA Score=617;Name=lod=431 NA 15q11.2 NA NA NA NA rs7402675 NA NA 0.255 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 1.039132 NA NA NA NA NA 0.094 NA 5 1160 15 21902991 21902991 C T intergenic CT60,LOC646214 dist=704358;dist=29523 NA NA ncRNA_exonic ENSG00000258883 NA NA NA Score=628;Name=lod=477 NA 15q11.2 NA NA NA NA rs4984169 NA NA 0.206 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 -0.745781 NA NA NA NA NA 0.188 NA 5 1160 15 90270374 90270374 T C intronic WDR93 NA NA NA intronic ENSG00000140527 NA NA NA NA NA 15q26.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.224645 NA NA NA NA NA NA NA 5 1160 16 3604331 3604331 A C intronic NLRC3 NA NA NA intronic ENSG00000167984 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 0.332607 NA NA NA NA NA NA NA 5 1160 21 46927412 46927412 A T intronic COL18A1 NA NA NA intronic ENSG00000173638,ENSG00000182871 NA NA NA NA NA 21q22.3 NA Name=ERalpha_a NA NA rs9985095 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 0.070549 NA NA NA NA NA 0.022 NA 5 1160 22 43564210 43564210 C T intronic TTLL12 NA NA NA intronic ENSG00000100304 NA NA NA NA NA 22q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00846 NA NA NA NA NA NA NA 5 1160 X 13397315 13397315 A T intergenic LOC100133123,EGFL6 dist=37371;dist=190379 NA NA ncRNA_exonic ENSG00000197582 NA NA NA Score=660;Name=lod=641 NA Xp22.2 NA NA NA NA rs4830845 0.88 0.88 0.8593 NA NA NA NA NA NA 0.96 1 0.89 0.62 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 0.462713 NA NA NA NA NA 0.638 NA 5 1160 X 100383616 100383616 G A intronic CENPI NA NA NA intronic ENSG00000102384 NA NA NA Score=289;Name=lod=20 NA Xq22.1 NA NA NA NA rs112057339 0.13 0.13 0.1407 NA NA NA NA NA NA 0.14 0.1 0.13 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 0.180149 NA NA NA NA NA 0.13 NA 5 1160 X 123630812 123630812 C A intronic TENM1 NA NA NA intronic ENSG00000009694 NA NA NA Score=251;Name=lod=14 NA Xq25 NA NA NA NA rs73215108 0.09 0.09 NA NA NA NA NA NA NA 0.21 NA 0.07 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 1.327195 1.327195 NA NA NA NA 0.094 NA 5 1160 8 38109412 38109412 C T intronic DDHD2 NA NA NA intronic ENSG00000085788 NA NA NA NA NA 8p11.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008381 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.132503 NA NA NA NA NA NA NA 4.9999916 1160 1 52289485 52289485 A C intronic NRD1 NA NA NA intronic ENSG00000078618 NA NA NA NA NA 1p32.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00000894 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.704102 NA NA NA NA NA NA NA 4.9999911 1160 1 193119532 193119532 T C intronic CDC73 NA NA NA intronic ENSG00000134371 NA NA NA NA NA 1q31.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001656 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.324083 NA NA NA NA NA NA NA 4.9999834 1160 5 150853218 150853218 G C intronic SLC36A1 NA NA NA intronic ENSG00000123643 NA NA NA NA NA 5q33.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001924 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.249323 NA NA NA NA NA NA NA 4.9999808 1160 19 36297509 36297509 C T intronic PRODH2 NA NA NA intronic ENSG00000250799 NA NA NA NA NA 19q13.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170247 NA NA NA NA NA NA NA 4.999967 1160 19 50496220 50496220 A C intronic VRK3 NA NA NA intronic ENSG00000105053 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 0.00008314 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.197559 NA NA NA NA NA NA NA 4.9999169 1160 19 3814002 3814002 A G intronic ZFR2 NA NA NA intronic ENSG00000105278 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 0.00008998 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.800373 NA NA NA NA NA NA NA 4.99991 1160 2 79348826 79348826 T G intronic REG1A NA NA NA intronic ENSG00000115386 NA NA NA NA NA 2p12 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 -0.824691 NA NA NA NA NA NA NA 4.9999 1160 14 21553825 21553825 C T intronic ARHGEF40 NA NA NA intronic ENSG00000165801 NA NA NA NA NA 14q11.2 NA NA Name=17 NA rs201452739 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 0.909072 NA NA 0.000116 0 NA NA NA 4.999784 1160 13 99582419 99582419 T C intronic DOCK9 NA NA NA intronic ENSG00000088387 NA NA NA Score=419;Name=lod=67 NA 13q32.3 NA NA NA NA rs376524300 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 2.156318 2.156318 NA 0.000121 0 NA NA NA 4.999779 1160 22 31011785 31011785 T C intronic TCN2 NA NA NA intronic ENSG00000185339 NA NA NA NA NA 22q12.2 NA Name=MafK_(ab50322),MafF_(M8194),CEBPB,MafK_(SC-477) NA NA rs202139921 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 -0.004972 NA NA 0.000233 0 NA NA NA 4.999667 1160 1 117556422 117556422 A C intronic CD101 NA NA NA intronic ENSG00000134256 NA NA NA NA NA 1p13.1 NA Name=c-Myc NA NA rs377654734 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 0.752006 NA NA 0.000465 0 NA NA NA 4.999435 1160 9 77300343 77300343 C G intronic RORB NA NA NA intronic ENSG00000198963 NA NA NA Score=371;Name=lod=43 NA 9q21.13 NA NA NA NA rs369657514 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 1.610315 1.610315 NA 0.000465 0.000227 NA NA NA 4.999435 1160 17 3831249 3831249 G A intronic ATP2A3 NA NA NA intronic ENSG00000074370 NA NA NA NA NA 17p13.2 NA Name=AP-2gamma,AP-2alpha NA NA rs369681128 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 -0.39676 NA NA 0.000465 0 NA NA NA 4.999435 1160 9 79321276 79321276 T C exonic PRUNE2 NA nonsynonymous SNV PRUNE2:NM_015225:exon8:c.A5914G:p.T1972A exonic ENSG00000106772 NA nonsynonymous SNV ENSG00000106772:ENST00000376718:exon8:c.A5914G:p.T1972A,ENSG00000106772:ENST00000428286:exon8:c.A4837G:p.T1613A NA NA 9q21.2 NA NA NA NA rs517634 0.81 0.81 0.809 0.784545 0.7734 0.9117 0.8213 0.6921 0.7638 0.76 0.95 0.81 0.74 0.7964 0.95 0.33 T 0.0 B 0.0 B 0.670 N 1.000 P -0.69 N 0.9 T -1.044 T 0.000 T 0.141 -1.312 0.035 0.194 -0.048 0.065 4.167 -1.311684 NA 0.55 0.764238 0.71301 NA 0.761 NA 4.9992954 1160 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 1160 1 44054367 44054367 C G intronic PTPRF NA NA NA intronic ENSG00000142949 NA NA NA Score=251;Name=lod=14 NA 1p34.2 NA NA NA NA rs199825010 0.0009 0.0009 NA 0.000199681 NA NA 0.0014 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 2.729228 2.729228 NA 0.000465 0.000227 NA NA NA 4.999135 1160 4 77134529 77134529 G A intronic SCARB2 NA NA NA intronic ENSG00000138760 NA NA NA NA NA 4q21.1 NA NA Name=146 NA rs371566455 NA NA NA 0.000399361 NA NA 0.0014 NA 0.001 NA NA NA NA 0.0004 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 0.986942 NA NA 0.000466 0 NA NA NA 4.999134 1160 15 40269052 40269052 G A intronic EIF2AK4 NA NA NA intronic ENSG00000128829 NA NA NA NA NA 15q15.1 NA Name=c-Myc,Rad21,ZNF263,CTCF,HA-E2F1 Name=107 NA rs34298786 0.29 0.29 0.325 0.287141 0.335 0.1706 0.2853 0.3555 0.2669 0.32 0.17 0.35 0.37 0.3298 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.693271 NA NA 0.336151 0.336105 NA 0.268 NA 4.999049 1160 1 209804138 209804138 G T intronic LAMB3 NA NA NA intronic ENSG00000196878 NA NA NA NA NA 1q32.2 NA Name=Pol2(b) NA NA rs201622238 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 0.558784 NA NA NA NA NA NA NA 4.999 1160 3 12558082 12558082 G T intronic TSEN2 NA NA NA intronic ENSG00000154743 NA NA NA NA NA 3p25.2 NA NA Name=6 NA rs200548897 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 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 0.26388 NA NA 0.001047 0 NA NA NA 4.998753 1160 3 27442336 27442336 G A exonic SLC4A7 NA synonymous SNV SLC4A7:NM_001258379:exon15:c.C1962T:p.N654N,SLC4A7:NM_001258380:exon15:c.C1947T:p.N649N,SLC4A7:NM_003615:exon16:c.C2319T:p.N773N exonic ENSG00000033867 NA synonymous SNV ENSG00000033867:ENST00000419036:exon8:c.C972T:p.N324N,ENSG00000033867:ENST00000388777:exon15:c.C969T:p.N323N,ENSG00000033867:ENST00000428386:exon15:c.C1947T:p.N649N,ENSG00000033867:ENST00000435667:exon15:c.C1974T:p.N658N,ENSG00000033867:ENST00000437179:exon15:c.C1962T:p.N654N,ENSG00000033867:ENST00000455077:exon15:c.C1962T:p.N654N,ENSG00000033867:ENST00000295736:exon16:c.C2319T:p.N773N,ENSG00000033867:ENST00000428179:exon16:c.C2007T:p.N669N,ENSG00000033867:ENST00000440156:exon16:c.C2307T:p.N769N,ENSG00000033867:ENST00000445684:exon16:c.C2307T:p.N769N,ENSG00000033867:ENST00000446700:exon16:c.C2295T:p.N765N,ENSG00000033867:ENST00000454389:exon16:c.C2346T:p.N782N NA NA 3p24.1 NA NA NA NA rs3736312 0.12 0.12 0.102 0.128195 0.2247 0.0565 0.1614 0.0446 0.1922 0.22 0.03 0.19 0.04 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 0.308351 NA NA 0.247731 0.080345 NA 0.094 NA 4.9985356 1160 7 73280020 73280020 C T exonic WBSCR28 NA synonymous SNV WBSCR28:NM_182504:exon3:c.C615T:p.T205T exonic ENSG00000175877 NA synonymous SNV ENSG00000175877:ENST00000320531:exon3:c.C615T:p.T205T Score=399;Name=lod=56 NA 7q11.23 NA NA NA NA rs1136647 0.46 0.46 0.446 0.422724 0.5726 0.4335 0.4928 0.2625 0.4243 0.58 0.44 0.46 0.28 0.5139 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.114626 NA NA 0.582029 0.319653 NA 0.312 NA 4.9981376 1160 2 233784984 233784984 C T intronic NGEF NA NA NA intronic ENSG00000066248 NA NA NA NA NA 2q37.1 NA NA Name=2 NA rs201473824 0.0014 0.0014 NA 0.000798722 NA 0.004 NA NA NA NA 0.01 NA 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 0.100869 NA NA 0.000814 0 NA NA NA 4.998086 1160 19 53577419 53577419 G C exonic ZNF160 NA nonsynonymous SNV ZNF160:NM_033288:exon5:c.C245G:p.P82R,ZNF160:NM_001102603:exon6:c.C245G:p.P82R,ZNF160:NM_198893:exon6:c.C245G:p.P82R exonic ENSG00000170949 NA nonsynonymous SNV ENSG00000170949:ENST00000601421:exon2:c.C137G:p.P46R,ENSG00000170949:ENST00000601982:exon3:c.C137G:p.P46R,ENSG00000170949:ENST00000418871:exon5:c.C245G:p.P82R,ENSG00000170949:ENST00000599247:exon5:c.C245G:p.P82R,ENSG00000170949:ENST00000355147:exon6:c.C245G:p.P82R,ENSG00000170949:ENST00000429604:exon6:c.C245G:p.P82R,ENSG00000170949:ENST00000599056:exon6:c.C245G:p.P82R NA NA 19q13.41 NA NA NA NA rs8105668 0.76 0.76 0.763 0.759984 0.8082 0.6032 0.7795 0.9281 0.6309 0.8 0.59 0.77 0.9 0.7525 0.9 0.46 T 0.005 B 0.001 B . . 1.000 P -1.2 N 5.76 T -1.090 T 0.000 T 0.032 -4.371 0.001 -0.839 -0.564 -0.162 4.235 -4.371085 NA 0.36 0.775465 0.901498 NA 0.833 NA 4.9971684 1160 10 60573753 60573753 G T intronic BICC1 NA NA NA exonic ENSG00000122870 NA nonsynonymous SNV ENSG00000122870:ENST00000263103:exon10:c.G1418T:p.R473L NA NA 10q21.1 NA NA NA NA rs9416746 0.76 0.76 0.75 0.746605 0.7008 0.749 0.7867 0.8132 0.6728 0.72 0.78 0.77 0.81 0.7469 0.81 . . 0.0 B 0.0 B . . 0.000 P . . 0.87 T -1.015 T 0.000 T 0.036 1.133 9.619 4.42 0.399 0.094 5.959 1.13327 NA 0.04 0.721977 0.808216 NA 0.768 NA 4.9969897 1160 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 1160 9 95887178 95887178 C T intronic NINJ1 NA NA NA intronic ENSG00000131669 NA NA NA Score=352;Name=lod=36 NA 9q22.31 NA NA NA NA rs201508523 0.0005 0.0005 NA 0.000399361 0.002 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 1.676944 1.676944 NA 0.000814 0 NA NA NA 4.996586 1160 2 216230390 216230390 T C intronic FN1 NA NA NA intronic ENSG00000115414 NA NA NA NA NA 2q35 NA NA Name=4 NA rs188108747 0.0009 0.0009 NA 0.000399361 0.001 NA 0.0014 NA NA NA 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 2.002095 2.002095 NA 0.001279 0 NA NA NA 4.996521 1160 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 1160 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 1160 7 131849986 131849986 C T intronic PLXNA4 NA NA NA intronic ENSG00000221866 NA NA NA NA NA 7q32.3 NA NA Name=2 NA rs200348555 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0014 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 0.585573 NA NA 0.001997 0 NA NA NA 4.995603 1160 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 1160 1 35864011 35864011 T C intronic ZMYM4 NA NA NA intronic ENSG00000146463 NA NA NA Score=556;Name=lod=243 NA 1p34.3 NA NA NA NA rs188491753 0.0009 0.0009 NA 0.000798722 0.001 NA 0.0029 NA 0.001 NA 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 1.645094 1.645094 NA 0.00257 0 NA 0.007 NA 4.99523 1161 14 22636784 22636784 A C intergenic OR4E2,DAD1 dist=502546;dist=397023 NA NA exonic ENSG00000259092 NA nonsynonymous SNV ENSG00000259092:ENST00000557168:exon2:c.A237C:p.E79D NA NA 14q11.2 Score=824;Name=V$EVI1_04 NA NA NA rs11157435 0.32 0.32 0.289 0.321286 0.2495 0.627 0.3098 0.1051 0.3804 0.24 0.6 0.34 0.1 0.3122 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.740598 NA 0.76 0.276831 0.13961 NA 0.232 NA 4.9948024 1161 3 170800024 170800024 C A intronic TNIK NA NA NA intronic ENSG00000154310 NA NA NA NA NA 3q26.2 NA NA Name=2 NA rs200688648 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 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 2.88337 2.88337 NA 0.003013 0 NA NA NA 4.994487 1161 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 1161 10 117884950 117884950 G A exonic GFRA1 NA synonymous SNV GFRA1:NM_145793:exon4:c.C537T:p.N179N,GFRA1:NM_001145453:exon5:c.C537T:p.N179N,GFRA1:NM_005264:exon6:c.C552T:p.N184N exonic ENSG00000151892 NA synonymous SNV ENSG00000151892:ENST00000544592:exon2:c.C189T:p.N63N,ENSG00000151892:ENST00000369236:exon4:c.C537T:p.N179N,ENSG00000151892:ENST00000439649:exon5:c.C537T:p.N179N,ENSG00000151892:ENST00000355422:exon6:c.C552T:p.N184N,ENSG00000151892:ENST00000369234:exon6:c.C552T:p.N184N Score=489;Name=lod=130 NA 10q25.3 NA NA NA NA rs2245020 0.49 0.49 0.467 0.485024 0.5467 0.5546 0.6455 0.2466 0.5583 0.53 0.54 0.62 0.27 0.5567 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.035562 NA NA 0.569186 0.316841 ID=COSM147055;OCCURENCE=1(stomach) 0.406 NA 4.9940806 1161 9 740901 740901 C T exonic KANK1 NA synonymous SNV KANK1:NM_153186:exon8:c.C3189T:p.F1063F,KANK1:NM_015158:exon9:c.C3663T:p.F1221F,KANK1:NM_001256877:exon10:c.C3663T:p.F1221F,KANK1:NM_001256876:exon13:c.C3663T:p.F1221F exonic ENSG00000107104 NA synonymous SNV ENSG00000107104:ENST00000382286:exon4:c.C420T:p.F140F,ENSG00000107104:ENST00000382289:exon5:c.C663T:p.F221F,ENSG00000107104:ENST00000382293:exon8:c.C3189T:p.F1063F,ENSG00000107104:ENST00000382297:exon9:c.C3663T:p.F1221F,ENSG00000107104:ENST00000382303:exon13:c.C3663T:p.F1221F NA NA 9p24.3 NA NA NA NA rs2296049 0.25 0.25 0.238 0.265974 0.2117 0.1716 0.317 0.413 0.184 0.2 0.14 0.33 0.4 0.2418 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.498609 NA NA 0.219884 0.395143 ID=COSM150572;OCCURENCE=1(stomach) 0.304 NA 4.9932826 1161 1 1421463 1421463 C T intronic ATAD3B NA NA NA intronic ENSG00000160072 NA NA NA NA NA 1p36.33 NA NA Name=3 NA rs187067430 0.0009 0.0009 NA 0.000599042 0.002 NA NA NA 0.001 0.0026 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 0.095072 NA NA 0.003373 0.000454 NA 0.007 NA 4.993127 1161 19 11019753 11019753 G T intronic CARM1 NA NA NA intronic ENSG00000142453 NA NA NA Score=259;Name=lod=15 NA 19p13.2 NA NA NA NA rs185297129 NA NA NA 0.000599042 0.003 NA NA NA NA NA NA NA NA 0.0023 0.0016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.960353 1.960353 NA 0.001628 0.000227 NA NA NA 4.993072 1161 14 52478315 52478315 A G exonic NID2 NA synonymous SNV NID2:NM_007361:exon17:c.T3507C:p.A1169A exonic ENSG00000087303 NA synonymous SNV ENSG00000087303:ENST00000216286:exon17:c.T3507C:p.A1169A,ENSG00000087303:ENST00000541773:exon17:c.T3204C:p.A1068A NA NA 14q22.1 NA NA NA NA rs1051069 0.68 0.68 0.668 0.690495 0.5378 0.7738 0.745 0.7859 0.5941 0.52 0.77 0.72 0.78 0.5942 0.78 . . . . . . . . 1.000 P . . . . -1.012 T 0.000 T . -0.739 0.851 -0.731 -0.721 -0.734 5.638 -0.738684 NA NA 0.54186 0.751475 NA 0.71 NA 4.9928066 1161 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 1161 2 233404877 233404877 C T intronic CHRNG NA NA NA intronic ENSG00000196811 NA NA NA NA NA 2q37.1 NA NA Name=2 NA rs113658634 0.0009 0.0009 NA 0.000798722 0.003 0.001 NA NA NA 0.0026 NA NA NA 0.0023 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 1.933566 1.933566 NA 0.002558 0.000454 NA NA NA 4.992142 1161 11 124095647 124095647 A C exonic OR8G2 NA nonsynonymous SNV OR8G2:NM_001007249:exon1:c.A250C:p.I84L ncRNA_exonic ENSG00000181214 NA NA NA NA NA 11q24.2 NA Name=eGFP-JunD,ELF1_(SC-631),NF-E2 NA NA rs2466615 0.57 0.57 0.61 0.627995 0.4831 0.4831 0.5648 0.8404 0.684 0.49 0.47 0.52 0.85 0.5369 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 -1.224739 NA NA 0.487976 0.787985 NA 0.638 NA 4.992024 1161 7 150715817 150715817 A G exonic ATG9B NA unknown UNKNOWN exonic ENSG00000181652 NA synonymous SNV ENSG00000181652:ENST00000377974:exon6:c.T1608C:p.G536G,ENSG00000181652:ENST00000605938:exon6:c.T1608C:p.G536G Score=439;Name=lod=81 NA 7q36.1 NA NA Name=53 NA rs1835428 0.83 0.83 0.809 0.820687 0.7535 0.8284 0.8401 0.9228 0.7301 0.77 0.85 0.81 0.92 0.8008 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 -0.516834 NA NA 0.787188 0.889508 NA 0.42 NA 4.9918453 1161 14 64669514 64669514 T A intronic SYNE2 NA NA NA intronic ENSG00000054654,ENSG00000140009 NA NA NA Score=654;Name=lod=607 NA 14q23.2 NA NA NA NA rs189611387 0.0018 0.0018 NA 0.00139776 0.004 NA 0.0029 NA 0.001 0.004 NA 0.0028 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 0.495703 NA NA 0.002442 0.000908 NA NA NA 4.991258 1161 10 459940 459940 G A exonic DIP2C NA synonymous SNV DIP2C:NM_014974:exon8:c.C970T:p.L324L exonic ENSG00000151240 NA synonymous SNV ENSG00000151240:ENST00000280886:exon8:c.C970T:p.L324L,ENSG00000151240:ENST00000381496:exon9:c.C649T:p.L217L Score=498;Name=lod=141 NA 10p15.3 NA NA NA NA rs4881274 0.61 0.61 0.622 0.626797 0.5417 0.6915 0.6268 0.5772 0.7147 0.55 0.71 0.63 0.57 0.5928 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.012424 NA NA 0.541047 0.55833 NA 0.572 NA 4.9911196 1161 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$GFI1_01 NA Name=2 NA rs9815103 0.36 0.36 0.344 0.336861 0.4712 0.3413 0.3631 0.239 0.3078 0.46 0.33 0.37 0.24 0.3987 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065711 NA NA 0.472442 0.281207 NA 0.435 NA 4.9909914 1161 15 90771704 90771704 G A exonic SEMA4B NA synonymous SNV SEMA4B:NM_198925:exon14:c.G2343A:p.P781P,SEMA4B:NM_020210:exon15:c.G2343A:p.P781P exonic ENSG00000185033 NA synonymous SNV ENSG00000185033:ENST00000411539:exon14:c.G2343A:p.P781P,ENSG00000185033:ENST00000332496:exon15:c.G2343A:p.P781P NA NA 15q26.1 NA NA NA NA rs3751656 0.23 0.23 0.216 0.22524 0.2406 0.1062 0.1729 0.379 0.1616 0.25 0.11 0.17 0.4 0.2193 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.372939 NA NA 0.215865 0.342674 NA 0.297 NA 4.9909016 1161 17 76449505 76449505 G C exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon65:c.C10449G:p.T3483T exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon65:c.C10407G:p.T3469T,ENSG00000187775:ENST00000585328:exon65:c.C10434G:p.T3478T Score=470;Name=lod=108 NA 17q25.3 NA NA NA NA rs2289751 0.53 0.53 0.516 0.466454 0.5994 0.6042 0.4798 0.3041 0.3978 0.61 0.59 0.53 0.33 0.5174 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.059741 NA NA 0.559419 0.340218 NA 0.536 NA 4.9904476 1161 11 720197 720197 C T exonic EPS8L2 NA synonymous SNV EPS8L2:NM_022772:exon5:c.C301T:p.L101L exonic ENSG00000177106 NA synonymous SNV ENSG00000177106:ENST00000526198:exon4:c.C301T:p.L101L,ENSG00000177106:ENST00000318562:exon5:c.C301T:p.L101L,ENSG00000177106:ENST00000530636:exon5:c.C301T:p.L101L,ENSG00000177106:ENST00000524763:exon6:c.C301T:p.L101L,ENSG00000177106:ENST00000533256:exon6:c.C301T:p.L101L NA NA 11p15.5 Score=799;Name=V$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 1161 14 21831052 21831052 T C exonic SUPT16H NA synonymous SNV SUPT16H:NM_007192:exon14:c.A1566G:p.P522P exonic ENSG00000092201 NA synonymous SNV ENSG00000092201:ENST00000216297:exon14:c.A1566G:p.P522P Score=676;Name=lod=746 NA 14q11.2 Score=1000;Name=V$AML1_01 NA NA NA rs10138699 0.82 0.82 0.809 0.79972 0.9076 0.8879 0.7781 0.5741 0.9182 0.9 0.9 0.83 0.58 0.8613 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 1.236298 1.236298 NA 0.907791 0.630958 NA 0.783 NA 4.9899756 1161 5 176798155 176798155 T C intronic RGS14 NA NA NA intronic ENSG00000169220 NA NA NA NA NA 5q35.3 NA Name=HEY1 NA NA rs115710790 0.03 0.03 0.028 0.0393371 NA NA 0.013 0.1422 NA NA NA 0.01 0.12 0.0101 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 2.533692 2.533692 NA 0.000245 0.104402 NA 0.007 NA 4.989655 1161 5 150696540 150696540 C T exonic SLC36A2 NA synonymous SNV SLC36A2:NM_181776:exon10:c.G1290A:p.T430T exonic ENSG00000186335 NA synonymous SNV ENSG00000186335:ENST00000450886:exon4:c.G462A:p.T154T,ENSG00000186335:ENST00000335244:exon10:c.G1290A:p.T430T Score=363;Name=lod=40 NA 5q33.1 NA NA NA NA rs431240 0.65 0.65 0.636 0.673522 0.5348 0.8482 0.683 0.5862 0.7474 0.53 0.86 0.68 0.59 0.6146 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 1.062719 NA NA 0.527791 0.593282 NA 0.623 NA 4.9894756 1161 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 1161 1 16533983 16533983 G A intronic ARHGEF19 NA NA NA intronic ENSG00000142632 NA NA NA NA NA 1p36.13 NA Name=Pol2,Pol2-4H8 NA NA rs200208031 0.0014 0.0014 NA 0.00119808 0.004 NA NA 0.0008 0.001 0.004 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 0.220211 NA NA 0.003953 0.001135 NA NA NA 4.989347 1161 14 60581935 60581935 C T exonic PCNXL4 NA synonymous SNV PCNXL4:NM_022495:exon3:c.C411T:p.S137S exonic ENSG00000126773 NA synonymous SNV ENSG00000126773:ENST00000317623:exon3:c.C411T:p.S137S,ENSG00000126773:ENST00000404681:exon3:c.C1113T:p.S371S,ENSG00000126773:ENST00000406949:exon3:c.C411T:p.S137S,ENSG00000126773:ENST00000406854:exon4:c.C1113T:p.S371S Score=460;Name=lod=99 NA 14q23.1 NA NA Name=17 NA rs150687 0.87 0.87 0.866 0.810503 0.9026 0.8938 0.8948 0.7065 0.7106 0.91 0.92 0.88 0.75 0.8706 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 0.119952 NA NA 0.904383 0.749589 NA 0.848 NA 4.9890836 1161 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 1161 5 150696447 150696447 C T exonic SLC36A2 NA synonymous SNV SLC36A2:NM_181776:exon10:c.G1383A:p.Q461Q exonic ENSG00000186335 NA synonymous SNV ENSG00000186335:ENST00000450886:exon4:c.G555A:p.Q185Q,ENSG00000186335:ENST00000335244:exon10:c.G1383A:p.Q461Q Score=435;Name=lod=78 NA 5q33.1 NA NA NA NA rs369907 0.65 0.65 0.628 0.673522 0.5348 0.8482 0.683 0.5862 0.7474 0.53 0.86 0.68 0.59 0.6152 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 0.660534 NA NA 0.527674 0.593055 NA 0.616 NA 4.9889926 1161 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 1161 6 32151994 32151994 A T exonic AGER NA synonymous SNV AGER:NM_001136:exon1:c.T6A:p.A2A,AGER:NM_001206929:exon1:c.T6A:p.A2A,AGER:NM_001206932:exon1:c.T6A:p.A2A,AGER:NM_001206934:exon1:c.T6A:p.A2A,AGER:NM_001206936:exon1:c.T6A:p.A2A,AGER:NM_001206940:exon1:c.T6A:p.A2A,AGER:NM_001206954:exon1:c.T6A:p.A2A,AGER:NM_001206966:exon1:c.T6A:p.A2A,AGER:NM_172197:exon1:c.T6A:p.A2A exonic ENSG00000204305 NA synonymous SNV ENSG00000204305:ENST00000375055:exon1:c.T6A:p.A2A,ENSG00000204305:ENST00000375056:exon1:c.T6A:p.A2A,ENSG00000204305:ENST00000375065:exon1:c.T6A:p.A2A,ENSG00000204305:ENST00000375067:exon1:c.T6A:p.A2A,ENSG00000204305:ENST00000375070:exon1:c.T99A:p.A33A,ENSG00000204305:ENST00000375076:exon1:c.T6A:p.A2A,ENSG00000204305:ENST00000438221:exon1:c.T6A:p.A2A,ENSG00000204305:ENST00000450110:exon1:c.T6A:p.A2A,ENSG00000204305:ENST00000538695:exon1:c.T6A:p.A2A Score=363;Name=lod=40 NA 6p21.32 NA Name=Pol2-4H8,Pol2 NA NA rs1800684 0.95 0.95 0.952 0.964257 0.8936 0.9921 0.9611 0.9924 0.9724 0.89 0.99 0.96 0.99 0.9181 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 1.104083 NA NA 0.866187 0.97088 NA 0.942 NA 4.9887796 1161 1 147119273 147119273 G A exonic ACP6 NA synonymous SNV ACP6:NM_016361:exon10:c.C1239T:p.H413H exonic ENSG00000162836 NA synonymous SNV ENSG00000162836:ENST00000369238:exon10:c.C1239T:p.H413H NA NA 1q21.2 Score=833;Name=V$MRF2_01 NA NA NA rs1344 0.5 0.5 0.485 0.479233 0.5765 0.4226 0.6254 0.4281 0.4029 0.57 0.41 0.63 0.41 0.5342 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.293288 NA NA 0.568488 0.458239 NA 0.572 NA 4.9874786 1161 4 40121562 40121562 G A exonic N4BP2 NA nonsynonymous SNV N4BP2:NM_018177:exon9:c.G1831A:p.D611N exonic ENSG00000078177 NA nonsynonymous SNV ENSG00000078177:ENST00000261435:exon9:c.G1831A:p.D611N NA NA 4p14 NA NA NA NA rs794001 0.81 0.81 0.795 0.824681 0.7624 0.9653 0.8458 0.6762 0.9294 0.76 0.97 0.83 0.7 0.8107 0.97 1 T 0.0 B 0.0 B 0.265 N 1.000 P -1.7 N 2.32 T -1.018 T 0.000 T 0.047 -1.311 0.035 0.469 0.128 0.565 2.233 -1.310934 NA 1 0.772835 0.691931 ID=COSM447847;OCCURENCE=1(breast) 0.667 NA 4.9873984 1161 16 84922859 84922859 C T exonic CRISPLD2 NA synonymous SNV CRISPLD2:NM_031476:exon14:c.C1329T:p.A443A exonic ENSG00000103196 NA synonymous SNV ENSG00000103196:ENST00000262424:exon14:c.C1329T:p.A443A,ENSG00000103196:ENST00000567845:exon14:c.C1326T:p.A442A NA NA 16q24.1 NA NA Name=25 NA rs767050 0.65 0.65 0.671 0.682708 0.5507 0.8591 0.5692 0.7171 0.6708 0.54 0.83 0.56 0.69 0.5872 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 -0.188044 NA NA 0.541395 0.670305 ID=COSM435881;OCCURENCE=1(breast) 0.645 NA 4.9873716 1161 1 43005004 43005004 A G intronic CCDC30 NA NA NA intronic ENSG00000186409 NA NA NA Score=265;Name=lod=16 NA 1p34.2 NA NA NA NA rs200729117 0.0018 0.0018 NA 0.00119808 0.004 NA 0.0029 NA NA 0.004 NA 0.0028 NA 0.0048 0.0042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.201291 NA NA 0.004187 0.001135 NA NA NA 4.987013 1161 4 155533675 155533675 C T intronic FGG NA NA NA intronic ENSG00000171557 NA NA NA NA NA 4q31.3 NA Name=HEY1,MafK_(ab50322),Pol2,Sin3Ak-20 NA NA rs2066857 0.0027 0.0027 0.002 0.00179712 0.005 NA 0.0043 NA 0.001 0.004 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 1.440911 1.440911 NA 0.005116 0.001135 NA NA NA 4.986984 1161 11 1087972 1087972 C T exonic MUC2 NA synonymous SNV MUC2:NM_002457:exon25:c.C3447T:p.N1149N exonic ENSG00000198788 NA synonymous SNV ENSG00000198788:ENST00000359061:exon25:c.C3447T:p.N1149N,ENSG00000198788:ENST00000441003:exon25:c.C3447T:p.N1149N NA NA 11p15.5 NA NA NA NA rs10902088 0.3 0.3 0.257 0.327676 0.2167 0.3899 0.3631 0.3759 0.2873 0.21 0.4 0.3 0.31 0.2635 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.883289 NA NA 0.199552 0.336763 NA 0.239 NA 4.9869146 1161 10 135098672 135098672 G A exonic TUBGCP2 NA synonymous SNV TUBGCP2:NM_001256618:exon12:c.C1551T:p.Y517Y,TUBGCP2:NM_006659:exon13:c.C1941T:p.Y647Y,TUBGCP2:NM_001256617:exon14:c.C2025T:p.Y675Y exonic ENSG00000130640 NA synonymous SNV ENSG00000130640:ENST00000368562:exon5:c.C720T:p.Y240Y,ENSG00000130640:ENST00000252936:exon12:c.C1941T:p.Y647Y,ENSG00000130640:ENST00000417178:exon12:c.C1551T:p.Y517Y,ENSG00000130640:ENST00000368563:exon13:c.C1941T:p.Y647Y,ENSG00000130640:ENST00000482278:exon13:c.C1941T:p.Y647Y,ENSG00000130640:ENST00000543663:exon13:c.C2025T:p.Y675Y Score=607;Name=lod=389 NA 10q26.3 NA NA NA Score=121;Name=353303_0_+_121 rs3008334 0.9 0.9 0.889 0.887979 0.8976 0.9286 0.8415 0.882 0.8773 0.89 0.94 0.86 0.88 0.8917 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 1.086906 NA NA 0.890814 0.874262 NA 0.891 NA 4.9865526 1161 3 197765432 197765432 C T intronic LMLN NA NA NA ncRNA_exonic ENSG00000232832 NA NA NA NA NA 3q29 Score=849;Name=V$FOXO1_02 NA NA NA rs73091377 0.16 0.16 0.188 0.19988 0.1143 0.004 0.1037 0.5151 0.1319 0.11 0.0017 0.1 0.48 0.1284 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.892317 NA NA 0.105465 0.450976 NA 0.21 NA 4.9851683 1161 1 12248942 12248942 A G exonic TNFRSF1B NA synonymous SNV TNFRSF1B:NM_001066:exon2:c.A168G:p.K56K exonic ENSG00000028137 NA synonymous SNV ENSG00000028137:ENST00000376259:exon2:c.A168G:p.K56K,ENSG00000028137:ENST00000536782:exon2:c.A168G:p.K56K NA NA 1p36.22 NA NA NA NA rs945439 0.2 0.2 0.164 0.199281 0.2147 0.1548 0.134 0.2012 0.273 0.23 0.17 0.16 0.22 0.2248 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014283 NA NA 0.242093 0.221516 NA 0.304 NA 4.9850736 1162 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 1162 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 1162 9 13107121 13107121 T C intronic MPDZ NA NA NA intronic ENSG00000107186 NA NA NA Score=460;Name=lod=99 NA 9p23 NA NA NA NA rs138137628 0.0014 0.0014 0.003 0.00119808 0.005 NA 0.0014 NA NA 0.004 NA NA NA 0.0038 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 0.543977 NA NA 0.007443 0.000269 NA 0.007 NA 4.983757 1162 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 1162 11 75277628 75277628 A G exonic SERPINH1 NA synonymous SNV SERPINH1:NM_001235:exon2:c.A234G:p.L78L,SERPINH1:NM_001207014:exon3:c.A234G:p.L78L exonic ENSG00000149257 NA synonymous SNV ENSG00000149257:ENST00000358171:exon2:c.A234G:p.L78L,ENSG00000149257:ENST00000524558:exon2:c.A234G:p.L78L,ENSG00000149257:ENST00000526397:exon2:c.A234G:p.L78L,ENSG00000149257:ENST00000528990:exon2:c.A234G:p.L78L,ENSG00000149257:ENST00000529643:exon2:c.A234G:p.L78L,ENSG00000149257:ENST00000525611:exon3:c.A234G:p.L78L,ENSG00000149257:ENST00000526242:exon3:c.A159G:p.L53L,ENSG00000149257:ENST00000528760:exon3:c.A234G:p.L78L,ENSG00000149257:ENST00000530284:exon3:c.A234G:p.L78L,ENSG00000149257:ENST00000532356:exon3:c.A234G:p.L78L,ENSG00000149257:ENST00000533449:exon3:c.A234G:p.L78L,ENSG00000149257:ENST00000533603:exon3:c.A234G:p.L78L Score=464;Name=lod=103 NA 11q13.5 NA NA Name=5 NA rs584961 0.87 0.87 0.872 0.889976 0.8877 0.7282 0.9294 0.9546 0.9438 0.89 0.72 0.93 0.96 0.8995 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 0.623804 NA NA 0.896528 0.945177 NA 0.928 NA 4.9829386 1162 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 1162 1 93744055 93744055 G A UTR3 CCDC18 NM_206886:c.*21G>A NA NA ncRNA_UTR3 ENSG00000122483 NA NA NA Score=309;Name=lod=24 NA 1p22.1 NA NA NA NA rs10874767 0.17 0.17 0.157 0.154752 0.1928 0.0218 0.1297 0.3321 0.0307 0.18 0.02 0.12 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 -0.489975 NA NA 0.173886 0.274103 NA 0.116 NA 4.982114 1162 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 1162 14 105344293 105344293 C T exonic CEP170B NA synonymous SNV CEP170B:NM_015005:exon3:c.C57T:p.F19F,CEP170B:NM_001112726:exon4:c.C267T:p.F89F exonic ENSG00000099814 NA synonymous SNV ENSG00000099814:ENST00000418279:exon3:c.C57T:p.F19F,ENSG00000099814:ENST00000556508:exon3:c.C57T:p.F19F,ENSG00000099814:ENST00000414716:exon4:c.C267T:p.F89F,ENSG00000099814:ENST00000453495:exon4:c.C267T:p.F89F Score=499;Name=lod=142 NA 14q32.33 NA NA NA NA rs61995995 0.36 0.36 0.32 0.353834 0.5716 0.1994 0.5159 0.1339 0.4714 0.58 0.17 0.52 0.15 0.5391 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.631937 NA NA 0.575 0.207956 NA 0.283 NA 4.9809666 1162 14 22631217 22631217 C T intergenic OR4E2,DAD1 dist=496979;dist=402590 NA NA UTR5 ENSG00000211810 ENST00000390458:c.-28C>T NA NA NA NA 14q11.2 NA Name=CTCF Name=38 NA rs2075492 0.36 0.36 0.349 0.368211 0.2505 0.6141 0.3141 0.2814 0.3916 0.24 0.59 0.34 0.27 0.3242 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.714232 NA NA 0.277764 0.259117 NA 0.283 NA 4.9808694 1162 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 1162 3 52325759 52325759 A G intronic GLYCTK NA NA NA splicing ENSG00000168237 ENST00000486393:exon4:c.530-2A>G NA NA NA NA 3p21.1 NA Name=SMC3_(ab9263),Rad21,CTCF Name=45 NA rs2276834 0.53 0.53 0.567 0.508986 0.5189 0.4008 0.4813 0.6747 0.4059 0.51 0.45 0.49 0.68 0.4852 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.792371 NA NA 0.515465 0.614843 NA 0.478 NA 4.980435 1162 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 1162 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 1162 6 125403740 125403740 T C intronic RNF217 NA NA NA intronic ENSG00000146373 NA NA NA NA NA 6q22.31 NA Name=TAL1_(SC-12984),GATA-1 NA NA rs17779663 0.0018 0.0018 0.004 0.00159744 0.006 NA 0.0014 NA 0.001 0.004 NA NA 0.002 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 0.898348 NA NA 0.010349 0.001816 NA NA NA 4.979651 1162 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 1162 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 1162 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 1162 16 74425569 74425569 C T intergenic LOC283922,CLEC18B dist=23416;dist=16960 NA NA exonic ENSG00000196436 NA nonsynonymous SNV ENSG00000196436:ENST00000429990:exon7:c.C923T:p.P308L NA NA 16q23.1 NA NA NA NA rs11641596 NA NA 0.404 NA NA NA NA NA NA NA NA NA NA 0.4496 0.4 0.02 D 0.411 B 0.12 B . . 1.000 P 1.15 L 0.64 T -0.944 T 0.000 T 0.37 1.15 9.682 . . . . 1.149552 NA 0.02 0.404678 0.321165 NA 0.08 NA 4.9790554 1162 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 1162 4 149356516 149356516 A G exonic NR3C2 NA synonymous SNV NR3C2:NM_000901:exon2:c.T1497C:p.D499D,NR3C2:NM_001166104:exon2:c.T1497C:p.D499D exonic ENSG00000151623 NA synonymous SNV ENSG00000151623:ENST00000511528:exon1:c.T1497C:p.D499D,ENSG00000151623:ENST00000342437:exon2:c.T1497C:p.D499D,ENSG00000151623:ENST00000344721:exon2:c.T1497C:p.D499D,ENSG00000151623:ENST00000355292:exon2:c.T1497C:p.D499D,ENSG00000151623:ENST00000358102:exon2:c.T1497C:p.D499D,ENSG00000151623:ENST00000512865:exon2:c.T1497C:p.D499D Score=529;Name=lod=189 NA 4q31.23 Score=834;Name=V$TAL1BETAE47_01 NA NA NA rs5525 0.88 0.88 0.886 0.891973 0.9155 0.8542 0.8271 0.9274 0.9049 0.91 0.83 0.88 0.92 0.8819 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 0.127359 NA NA 0.89093 0.912165 NA 0.855 NA 4.9783366 1162 8 21846586 21846586 G C exonic XPO7 NA synonymous SNV XPO7:NM_015024:exon16:c.G1860C:p.L620L exonic ENSG00000130227 NA synonymous SNV ENSG00000130227:ENST00000252512:exon16:c.G1860C:p.L620L,ENSG00000130227:ENST00000433566:exon16:c.G1863C:p.L621L,ENSG00000130227:ENST00000434536:exon16:c.G1887C:p.L629L Score=675;Name=lod=736 NA 8p21.3 NA NA NA NA rs2306646 0.59 0.59 0.611 0.579073 0.6014 0.5238 0.4352 0.764 0.4652 0.6 0.52 0.47 0.75 0.5356 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 -0.114877 NA NA 0.551428 0.73125 NA 0.775 NA 4.9782386 1162 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 1162 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 1162 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 1162 2 172725301 172725301 A G exonic SLC25A12 NA synonymous SNV SLC25A12:NM_003705:exon3:c.T99C:p.Y33Y exonic ENSG00000115840 NA synonymous SNV ENSG00000115840:ENST00000475360:exon2:c.T87C:p.Y29Y,ENSG00000115840:ENST00000263812:exon3:c.T99C:p.Y33Y,ENSG00000115840:ENST00000422440:exon3:c.T99C:p.Y33Y,ENSG00000115840:ENST00000426896:exon3:c.T99C:p.Y33Y Score=525;Name=lod=182 NA 2q31.1 Score=849;Name=V$E4BP4_01 NA NA NA rs1878583 0.82 0.82 0.822 0.790935 0.9225 0.9157 0.7305 0.5779 0.8579 0.92 0.91 0.78 0.59 0.8567 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 0.945599 NA NA 0.909535 0.629596 NA 0.826 NA 4.9779316 1162 9 118949998 118949998 C T exonic PAPPA NA synonymous SNV PAPPA:NM_002581:exon2:c.C981T:p.C327C exonic ENSG00000182752 NA synonymous SNV ENSG00000182752:ENST00000328252:exon2:c.C981T:p.C327C NA NA 9q33.1 NA NA NA NA rs12375498 0.15 0.15 0.127 0.118011 0.2555 0.0942 0.1499 0.0189 0.1125 0.25 0.1 0.17 0.03 0.1906 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.297657 NA NA 0.242674 0.055379 NA 0.174 NA 4.9778926 1162 6 34664207 34664207 T G intronic C6orf106 NA NA NA ncRNA_exonic ENSG00000272288 NA NA NA Score=713;Name=lod=1051 NA 6p21.31 NA Name=GABP,Sin3Ak-20 Name=39 NA rs3800456 0.76 0.76 0.755 0.766773 0.8091 0.6925 0.8184 0.7194 0.8272 0.8 0.69 0.81 0.72 0.7881 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 0.902143 NA NA 0.758491 0.700092 NA 0.797 NA 4.9776423 1162 11 557989 557989 C T exonic C11orf35 NA synonymous SNV C11orf35:NM_173573:exon5:c.G450A:p.Q150Q exonic ENSG00000185522 NA synonymous SNV ENSG00000185522:ENST00000329451:exon5:c.G450A:p.Q150Q,ENSG00000185522:ENST00000486629:exon5:c.G480A:p.Q160Q,ENSG00000185522:ENST00000441853:exon6:c.G471A:p.Q157Q Score=272;Name=lod=17 NA 11p15.5 NA NA NA NA rs7129811 0.49 0.49 0.458 0.471845 0.5746 0.6696 0.4366 0.152 0.6196 0.58 0.69 0.44 0.16 0.5546 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 0.441262 NA 0 0.560028 0.21753 NA 0.486 NA 4.9774386 1162 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 1162 10 102289078 102289078 C A intronic NDUFB8 NA NA NA UTR5 ENSG00000166135 ENST00000533589:c.-7234C>A NA NA NA NA 10q24.31 Score=915;Name=V$ZIC3_01 NA NA NA rs1800662 0.18 0.18 0.168 0.180911 0.1899 0.131 0.1787 0.1861 0.2178 0.21 0.16 0.19 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 0.62951 NA NA NA NA NA 0.101 NA 4.9767667 1162 1 89271574 89271574 T C exonic PKN2 NA synonymous SNV PKN2:NM_006256:exon12:c.T1677C:p.S559S exonic ENSG00000065243 NA synonymous SNV ENSG00000065243:ENST00000544045:exon7:c.T699C:p.S233S,ENSG00000065243:ENST00000370505:exon11:c.T1206C:p.S402S,ENSG00000065243:ENST00000370513:exon11:c.T1533C:p.S511S,ENSG00000065243:ENST00000370521:exon12:c.T1677C:p.S559S Score=570;Name=lod=277 NA 1p22.2 NA NA NA NA rs786906 0.5 0.5 0.449 0.511581 0.5676 0.4702 0.4856 0.3563 0.7249 0.59 0.48 0.54 0.36 0.564 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.730043 1.730043 NA 0.559075 0.412073 NA 0.507 NA 4.9759916 1162 9 101822220 101822220 C T exonic COL15A1 NA synonymous SNV COL15A1:NM_001855:exon36:c.C3387T:p.P1129P exonic ENSG00000204291 NA synonymous SNV ENSG00000204291:ENST00000375001:exon36:c.C3387T:p.P1129P NA NA 9q22.33 NA NA NA NA rs4480177 0.37 0.37 0.373 0.385383 0.2038 0.5268 0.3473 0.4024 0.4305 0.2 0.59 0.31 0.4 0.2847 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.480201 NA NA 0.202442 0.382206 NA 0.326 NA 4.9757246 1162 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 1162 5 146619206 146619206 G C exonic STK32A NA synonymous SNV STK32A:NM_001112724:exon2:c.G9C:p.A3A,STK32A:NM_145001:exon2:c.G9C:p.A3A exonic ENSG00000169302 NA synonymous SNV ENSG00000169302:ENST00000397936:exon2:c.G9C:p.A3A,ENSG00000169302:ENST00000398521:exon2:c.G9C:p.A3A,ENSG00000169302:ENST00000398523:exon2:c.G9C:p.A3A,ENSG00000169302:ENST00000541094:exon2:c.G9C:p.A3A Score=431;Name=lod=75 NA 5q32 NA NA NA NA rs4705132 0.53 0.53 0.494 0.520367 0.5646 0.3135 0.732 0.6384 0.3783 0.57 0.29 0.68 0.63 0.5673 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.298425 1.298425 NA 0.559312 0.626699 NA 0.58 NA 4.9754546 1162 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 1163 22 29727866 29727866 C T exonic AP1B1 NA synonymous SNV AP1B1:NM_001166019:exon17:c.G2268A:p.A756A,AP1B1:NM_145730:exon17:c.G2328A:p.A776A,AP1B1:NM_001127:exon18:c.G2349A:p.A783A exonic ENSG00000100280 NA synonymous SNV ENSG00000100280:ENST00000402502:exon16:c.G2328A:p.A776A,ENSG00000100280:ENST00000415447:exon16:c.G2328A:p.A776A,ENSG00000100280:ENST00000317368:exon17:c.G2268A:p.A756A,ENSG00000100280:ENST00000356015:exon17:c.G2328A:p.A776A,ENSG00000100280:ENST00000405198:exon17:c.G2349A:p.A783A,ENSG00000100280:ENST00000432560:exon17:c.G2328A:p.A776A,ENSG00000100280:ENST00000357586:exon18:c.G2349A:p.A783A NA NA 22q12.2 Score=867;Name=V$AHRARNT_01 NA NA NA rs174765 0.55 0.55 0.568 0.531949 0.5954 0.6984 0.3977 0.4092 0.5562 0.6 0.69 0.4 0.41 0.542 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 -1.003016 NA NA 0.554419 0.441897 NA 0.486 NA 4.9748476 1163 13 31821240 31821240 C T intronic B3GALTL NA NA NA intronic ENSG00000187676 NA NA NA NA NA 13q12.3 NA NA Name=5 NA rs9564692 0.47 0.47 0.46 0.503994 0.326 0.7123 0.5115 0.4523 0.5368 0.32 0.7 0.47 0.44 0.3988 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 0.537944 NA NA 0.300465 0.395824 NA 0.326 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082787.1;CLNDSDB=.;CLNDSDBID=. 4.974735 1163 19 14000400 14000400 A G exonic C19orf57 NA synonymous SNV C19orf57:NM_024323:exon6:c.T1269C:p.P423P exonic ENSG00000132016 NA synonymous SNV ENSG00000132016:ENST00000586783:exon5:c.T1269C:p.P423P,ENSG00000132016:ENST00000346736:exon6:c.T1269C:p.P423P,ENSG00000132016:ENST00000454313:exon6:c.T1269C:p.P423P NA NA 19p13.12 NA NA NA NA rs3803891 0.36 0.36 0.358 0.391773 0.2117 0.3085 0.2363 0.733 0.3119 0.21 0.34 0.23 0.7 0.2672 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 0.098188 NA NA 0.213256 0.653427 NA 0.377 NA 4.9745106 1163 7 6370144 6370144 G A exonic FAM220A NA synonymous SNV FAM220A:NM_001037163:exon2:c.C642T:p.D214D exonic ENSG00000178397 NA synonymous SNV ENSG00000178397:ENST00000313324:exon2:c.C642T:p.D214D NA NA 7p22.1 NA NA NA NA rs1043965 0.4 0.4 0.409 0.442292 0.1988 0.4603 0.3703 0.6884 0.3926 0.2 0.49 0.34 0.64 0.2964 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221185 NA NA 0.197674 0.615751 NA 0.348 NA 4.9737926 1163 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 1163 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 1163 15 50867082 50867082 G A exonic TRPM7 NA synonymous SNV TRPM7:NM_017672:exon34:c.C4986T:p.Y1662Y exonic ENSG00000092439 NA synonymous SNV ENSG00000092439:ENST00000313478:exon34:c.C4986T:p.Y1662Y,ENSG00000092439:ENST00000560955:exon34:c.C4983T:p.Y1661Y Score=610;Name=lod=400 NA 15q21.2 NA NA NA NA rs473357 0.6 0.6 0.611 0.611621 0.5606 0.6121 0.6066 0.7073 0.5378 0.55 0.58 0.59 0.71 0.5704 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 0.392081 NA NA 0.563313 0.660942 NA 0.63 NA 4.9723536 1163 8 141744806 141744806 G A intronic PTK2 NA NA NA intronic ENSG00000169398 NA NA NA NA NA 8q24.3 NA NA NA NA rs147508607 0.01 0.01 0.007 0.00459265 0.0119 NA 0.0072 NA 0.0061 0.01 NA 0.01 NA 0.0068 0.01 0.2 T . . . . . . 1.000 N . . . . -1.026 T 0.075 T . 1.245 10.05 1.6 0.437 0.012 9.633 1.245069 1.245069 0 0.009041 0.001712 NA NA NA 4.972259 1163 11 27114788 27114788 C T exonic BBOX1 NA synonymous SNV BBOX1:NM_003986:exon5:c.C408T:p.H136H exonic ENSG00000129151 NA synonymous SNV ENSG00000129151:ENST00000525090:exon3:c.C408T:p.H136H,ENSG00000129151:ENST00000528583:exon4:c.C408T:p.H136H,ENSG00000129151:ENST00000529202:exon4:c.C408T:p.H136H,ENSG00000129151:ENST00000263182:exon5:c.C408T:p.H136H NA NA 11p14.2 NA NA NA NA rs3183973 0.28 0.28 0.307 0.292133 0.2237 0.0516 0.1686 0.68 0.1738 0.24 0.04 0.19 0.67 0.2357 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 -1.438504 NA NA 0.235226 0.579246 ID=COSM147168;OCCURENCE=1(stomach) 0.319 NA 4.9720406 1163 6 43748439 43748439 T G intronic VEGFA NA NA NA intronic ENSG00000112715 NA NA NA Score=644;Name=lod=552 NA 6p21.1 NA NA NA NA rs3025051 0.0046 0.0046 NA 0.00239617 0.007 NA 0.0058 NA 0.001 0.01 NA 0.01 NA 0.0073 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 4.076042 4.076042 NA 0.013837 0.004766 NA 0.007 NA 4.971863 1163 19 1106615 1106615 T C exonic GPX4 NA unknown UNKNOWN exonic ENSG00000167468 NA nonsynonymous SNV ENSG00000167468:ENST00000585480:exon5:c.T338C:p.L113S NA NA 19p13.3 NA Name=Pol2 NA NA rs713041 0.6 0.6 0.562 0.599042 0.5507 0.5387 0.6571 0.6815 0.5583 0.55 0.54 0.64 0.69 0.596 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 -0.276597 NA NA 0.54845 0.685998 NA 0.529 NA 4.9715167 1163 17 72700943 72700943 A G exonic CD300LF NA nonsynonymous SNV CD300LF:NM_139018:exon2:c.T56C:p.V19A exonic ENSG00000186074 NA nonsynonymous SNV ENSG00000186074:ENST00000301573:exon2:c.T56C:p.V19A,ENSG00000186074:ENST00000326165:exon2:c.T56C:p.V19A,ENSG00000186074:ENST00000343125:exon2:c.T65C:p.V22A,ENSG00000186074:ENST00000361254:exon2:c.T65C:p.V22A,ENSG00000186074:ENST00000462044:exon2:c.T65C:p.V22A,ENSG00000186074:ENST00000464910:exon2:c.T65C:p.V22A,ENSG00000186074:ENST00000581500:exon2:c.T65C:p.V22A,ENSG00000186074:ENST00000583937:exon2:c.T56C:p.V19A,ENSG00000186074:ENST00000469092:exon3:c.T65C:p.V22A NA NA 17q25.1 NA NA NA NA rs35489971 0.64 0.64 0.622 0.609026 0.8191 0.7351 0.549 0.2784 0.7526 0.82 0.73 0.64 0.26 0.7295 0.82 1 T 0.003 B 0.006 B 0.074 N 1.000 P 0.345 N 3.81 T -0.996 T 0.000 T 0.023 -0.926 0.386 0.208 -0.005 0.033 3.658 -0.926103 NA 0.57 0.813721 0.35497 NA 0.587 NA 4.9710124 1163 19 17394504 17394504 A C exonic ANKLE1 NA nonsynonymous SNV ANKLE1:NM_152363:exon5:c.A931C:p.T311P exonic ENSG00000160117 NA nonsynonymous SNV ENSG00000160117:ENST00000394458:exon5:c.A931C:p.T311P,ENSG00000160117:ENST00000404085:exon5:c.A997C:p.T333P,ENSG00000160117:ENST00000404261:exon5:c.A931C:p.T311P,ENSG00000160117:ENST00000433424:exon5:c.A1093C:p.T365P,ENSG00000160117:ENST00000594072:exon5:c.A898C:p.T300P,ENSG00000160117:ENST00000598347:exon5:c.A931C:p.T311P NA NA 19p13.11 NA NA NA NA rs891017 0.64 0.64 0.676 0.635383 0.834 0.3135 0.5533 0.798 0.6012 0.84 0.29 0.6 0.78 0.7211 0.84 0.59 T 0.0 B 0.0 B 0.001 N 1.000 P -0.55 N -0.32 T -0.972 T 0.000 T 0.407 0.323 5.749 0.314 0.100 -0.519 5.659 0.322634 NA 0.11 0.807558 0.786655 NA 0.674 NA 4.9706754 1163 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 1163 1 245850095 245850095 C T exonic KIF26B NA synonymous SNV KIF26B:NM_018012:exon12:c.C3810T:p.D1270D exonic ENSG00000162849 NA synonymous SNV ENSG00000162849:ENST00000366518:exon9:c.C2667T:p.D889D,ENSG00000162849:ENST00000407071:exon12:c.C3810T:p.D1270D NA NA 1q44 NA NA NA NA rs871840 0.18 0.18 0.185 0.145567 0.2425 0.0179 0.1571 0.2307 0.0542 0.25 0.02 0.16 0.27 0.1983 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.798708 NA NA 0.25554 0.222945 NA 0.159 NA 4.9703266 1163 19 2767192 2767192 G T exonic SGTA NA synonymous SNV SGTA:NM_003021:exon4:c.C234A:p.P78P exonic ENSG00000104969 NA synonymous SNV ENSG00000104969:ENST00000221566:exon4:c.C234A:p.P78P,ENSG00000104969:ENST00000589251:exon5:c.C234A:p.P78P NA NA 19p13.3 NA NA NA NA rs1128925 0.26 0.26 0.257 0.282548 0.2107 0.5169 0.2277 0.177 0.2965 0.21 0.48 0.21 0.12 0.27 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157707 NA NA 0.215698 0.175614 NA 0.239 NA 4.9702686 1163 1 118693217 118693217 T C exonic SPAG17 NA synonymous SNV SPAG17:NM_206996:exon3:c.A264G:p.S88S exonic ENSG00000155761 NA synonymous SNV ENSG00000155761:ENST00000336338:exon3:c.A264G:p.S88S NA NA 1p12 NA NA NA NA rs1935992 0.25 0.25 0.219 0.227037 0.2356 0.4048 0.3458 0.0129 0.2403 0.22 0.46 0.32 0.01 0.243 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.474663 NA NA 0.21797 0.048453 ID=COSM423590;OCCURENCE=1(breast) 0.188 NA 4.9700966 1163 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 1163 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 1163 16 57015545 57015545 C T intronic CETP NA NA NA intronic ENSG00000087237 NA NA NA NA NA 16q13 NA Name=EBF,EBF1_(C-8) 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 1163 9 84267147 84267147 T C exonic TLE1 NA synonymous SNV TLE1:NM_005077:exon6:c.A354G:p.E118E exonic ENSG00000196781 NA synonymous SNV ENSG00000196781:ENST00000376463:exon5:c.A186G:p.E62E,ENSG00000196781:ENST00000376499:exon6:c.A354G:p.E118E,ENSG00000196781:ENST00000418319:exon6:c.A354G:p.E118E Score=690;Name=lod=850 NA 9q21.32 Score=865;Name=V$OCT1_06 NA NA NA rs2228173 0.9 0.9 0.883 0.907947 0.8817 0.8889 0.9193 0.9221 0.9274 0.87 0.87 0.93 0.94 0.9083 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 1.128021 NA NA 0.907558 0.908534 NA 0.928 NA 4.9691086 1163 3 98250862 98250862 C A UTR5 GPR15 NM_005290:c.-16C>A NA NA UTR5 ENSG00000154165 ENST00000284311:c.-16C>A NA NA NA NA 3q11.2 NA Name=NFKB,Pol2-4H8,Pol2,TBP NA NA rs3749260 0.12 0.12 0.124 0.120607 0.1243 0.1438 0.147 0.056 0.1616 0.13 0.17 0.11 0.05 0.1247 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.115233 NA NA 0.115349 0.063777 NA 0.087 NA 4.9689844 1163 6 110777962 110777962 A G exonic SLC22A16 NA synonymous SNV SLC22A16:NM_033125:exon2:c.T312C:p.N104N exonic ENSG00000004809 NA synonymous SNV ENSG00000004809:ENST00000451557:exon1:c.T63C:p.N21N,ENSG00000004809:ENST00000368919:exon2:c.T312C:p.N104N,ENSG00000004809:ENST00000424139:exon2:c.T183C:p.N61N,ENSG00000004809:ENST00000437378:exon2:c.T183C:p.N61N,ENSG00000004809:ENST00000439654:exon2:c.T312C:p.N104N,ENSG00000004809:ENST00000456137:exon2:c.T312C:p.N104N,ENSG00000004809:ENST00000330550:exon3:c.T210C:p.N70N NA NA 6q21 NA NA NA NA rs6907567 0.31 0.31 0.298 0.314097 0.2207 0.4107 0.2406 0.3888 0.2618 0.21 0.43 0.26 0.35 0.2542 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233444 NA NA 0.222907 0.363141 NA 0.319 NA 4.9688596 1163 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 1163 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 1163 20 62198662 62198662 A G exonic HELZ2 NA synonymous SNV HELZ2:NM_033405:exon1:c.T342C:p.Y114Y,HELZ2:NM_001037335:exon7:c.T2049C:p.Y683Y exonic ENSG00000130589 NA synonymous SNV ENSG00000130589:ENST00000427522:exon1:c.T342C:p.Y114Y,ENSG00000130589:ENST00000467148:exon6:c.T2049C:p.Y683Y NA NA 20q13.33 NA Name=ELF1_(SC-631),E2F6_(H-50) Name=4 NA rs367440 0.92 0.92 0.909 0.935703 0.8767 0.999 0.9092 0.9062 0.9898 0.87 1 0.91 0.9 0.9181 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.317753 NA NA 0.903736 0.908562 NA 0.928 NA 4.9681306 1163 1 24987299 24987299 G T intronic SRRM1 NA NA NA intronic ENSG00000133226 NA NA NA Score=361;Name=lod=39 NA 1p36.11 NA NA NA NA rs145732567 0.0046 0.0046 0.004 0.00399361 0.0139 NA 0.0029 NA 0.0041 0.01 NA 0.0028 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 1.294028 1.294028 NA 0.010468 0.001589 NA NA NA 4.967732 1163 17 29844658 29844658 C G intronic RAB11FIP4 NA NA NA intronic ENSG00000131242 NA NA NA NA NA 17q11.2 NA Name=Rad21,SMC3_(ab9263),NANOG_(SC-33759),CTCF,CTCF_(SC-5916) Name=19 NA rs3744619 0.44 0.44 0.428 0.513179 0.2833 0.5615 0.4424 0.6301 0.592 0.26 0.57 0.42 0.61 0.4946 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.914319 NA NA 0.255119 0.54975 NA 0.529 NA 4.966981 1163 11 1083293 1083293 T C exonic MUC2 NA synonymous SNV MUC2:NM_002457:exon16:c.T2193C:p.D731D exonic ENSG00000198788 NA synonymous SNV ENSG00000198788:ENST00000359061:exon16:c.T2193C:p.D731D,ENSG00000198788:ENST00000441003:exon16:c.T2193C:p.D731D NA NA 11p15.5 NA NA NA NA rs7394853 0.32 0.32 0.288 0.371406 0.2167 0.3919 0.366 0.444 0.4151 0.21 0.4 0.3 0.39 0.2804 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.233557 NA NA 0.202719 0.409 ID=COSM428367,COSM428368;OCCURENCE=1(breast) 0.217 NA 4.9668476 1163 1 1254841 1254841 C G exonic CPSF3L NA synonymous SNV CPSF3L:NM_017871:exon4:c.G264C:p.G88G,CPSF3L:NM_001256460:exon5:c.G177C:p.G59G,CPSF3L:NM_001256456:exon6:c.G282C:p.G94G exonic ENSG00000127054 NA synonymous SNV ENSG00000127054:ENST00000434694:exon4:c.G264C:p.G88G,ENSG00000127054:ENST00000435064:exon4:c.G264C:p.G88G,ENSG00000127054:ENST00000450926:exon4:c.G264C:p.G88G,ENSG00000127054:ENST00000528879:exon4:c.G264C:p.G88G,ENSG00000127054:ENST00000534345:exon4:c.G267C:p.G89G,ENSG00000127054:ENST00000527719:exon5:c.G282C:p.G94G,ENSG00000127054:ENST00000530031:exon5:c.G405C:p.G135G,ENSG00000127054:ENST00000545578:exon5:c.G177C:p.G59G,ENSG00000127054:ENST00000498476:exon6:c.G444C:p.G148G,ENSG00000127054:ENST00000540437:exon6:c.G282C:p.G94G Score=625;Name=lod=462 NA 1p36.33 NA NA NA Score=81;Name=1391_1_+_81 rs10907179 0.75 0.75 0.719 0.713658 0.9205 0.8353 0.8545 0.3018 0.8323 0.92 0.83 0.82 0.32 0.8476 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 1.34592 1.34592 0.02 0.932209 0.398094 NA 0.71 NA 4.9663576 1163 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 1163 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 1163 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=TAF1,EBF1_(C-8),Pol2-4H8,ELF1_(SC-631),E2F1,Pol2,HA-E2F1,GATA-2,E2F6,E2F6_(H-50),ZBTB7A_(SC-34508),c-Myc,Nrf1,Sin3Ak-20,E2F4 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 1163 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 1163 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 1163 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 1163 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 1163 21 45732116 45732116 C T exonic PFKL NA synonymous SNV PFKL:NM_002626:exon4:c.C366T:p.L122L exonic ENSG00000141959 NA synonymous SNV ENSG00000141959:ENST00000349048:exon4:c.C366T:p.L122L,ENSG00000141959:ENST00000403390:exon5:c.C507T:p.L169L Score=606;Name=lod=387 NA 21q22.3 NA NA NA NA rs1057034 0.45 0.45 0.448 0.458466 0.5755 0.38 0.5231 0.2852 0.6074 0.57 0.4 0.51 0.26 0.5522 0.57 NA NA 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 0.573742 0.300457 NA 0.333 NA 4.9652246 1163 17 4088291 4088291 C T exonic ANKFY1 NA synonymous SNV ANKFY1:NM_001257999:exon12:c.G1647A:p.T549T,ANKFY1:NM_016376:exon12:c.G1521A:p.T507T exonic ENSG00000185722 NA synonymous SNV ENSG00000185722:ENST00000341657:exon12:c.G1521A:p.T507T,ENSG00000185722:ENST00000570535:exon12:c.G1647A:p.T549T,ENSG00000185722:ENST00000574367:exon12:c.G1521A:p.T507T Score=589;Name=lod=330 NA 17p13.2 Score=848;Name=V$ATF_01 NA NA NA rs2020118 0.81 0.81 0.795 0.774361 0.9115 0.9534 0.8343 0.4697 0.818 0.91 0.95 0.85 0.47 0.8652 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 1.446826 1.446826 NA 0.924912 0.529384 NA 0.732 NA 4.9650546 1164 8 145756170 145756170 G A exonic ARHGAP39 NA synonymous SNV ARHGAP39:NM_025251:exon12:c.C3066T:p.D1022D exonic ENSG00000147799 NA synonymous SNV ENSG00000147799:ENST00000276826:exon9:c.C2973T:p.D991D,ENSG00000147799:ENST00000377307:exon10:c.C3066T:p.D1022D,ENSG00000147799:ENST00000540274:exon10:c.C2973T:p.D991D Score=501;Name=lod=145 NA 8q24.3 NA NA NA NA rs873884 0.43 0.43 0.479 0.386981 0.6034 0.2768 0.4179 0.3071 0.364 0.61 0.31 0.42 0.3 0.5064 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.162376 NA NA 0.592062 0.346785 NA 0.13 NA 4.9648046 1164 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 1164 20 60912683 60912683 T C exonic LAMA5 NA synonymous SNV LAMA5:NM_005560:exon16:c.A2127G:p.T709T exonic ENSG00000130702 NA synonymous SNV ENSG00000130702:ENST00000252999:exon16:c.A2127G:p.T709T NA NA 20q13.33 NA Name=ZEB1_(SC-25388),Pol2-4H8,EBF1_(C-8),BCL11A,Pol2,TCF12,p300,PAX5-N19,SP1 Name=11 NA rs2427289 0.79 0.79 0.762 0.740815 0.9155 0.9365 0.8055 0.3911 0.7863 0.91 0.95 0.81 0.4 0.8587 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 -1.031279 NA NA 0.928222 0.489745 ID=COSM1412953;OCCURENCE=1(large_intestine) 0.63 NA 4.9642446 1164 13 73635941 73635941 G A intronic KLF5 NA NA NA intronic ENSG00000102554 NA NA NA NA NA 13q22.1 NA Name=CEBPB,Pol2 NA NA rs41286078 0.02 0.02 0.015 0.0141773 0.0358 NA 0.0245 0.0045 0.0123 0.04 NA 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 -1.284648 NA NA NA NA NA 0.029 NA 4.9642 1164 19 36043871 36043871 C T intronic ATP4A NA NA NA intronic ENSG00000105675 NA NA NA NA NA 19q13.12 NA Name=ZNF263,Pol2 NA NA rs62109961 0.02 0.02 0.013 0.0101837 0.0358 NA 0.0159 0.0008 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 0.183758 NA NA NA NA NA 0.007 NA 4.9642 1164 19 10225777 10225777 A G UTR3 EIF3G,P2RY11,PPAN-P2RY11 NM_003755:c.*13T>C;NM_002566:c.*363A>G;NM_001040664:c.*363A>G,NM_001198690:c.*1247A>G NA NA UTR3 ENSG00000130811,ENSG00000244165 ENST00000253108:c.*13T>C,ENST00000593054:c.*13T>C;ENST00000321826:c.*363A>G NA NA NA NA 19p13.2 NA Name=Pol2(phosphoS2),Pol2,Pol2-4H8 Name=2 NA rs7401 0.38 0.38 0.36 0.367812 0.495 0.3502 0.5144 0.1505 0.4448 0.48 0.34 0.51 0.17 0.4192 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.868538 NA NA 0.455 0.220381 NA 0.384 NA 4.9641334 1164 3 73453325 73453325 C T exonic PDZRN3 NA synonymous SNV PDZRN3:NM_015009:exon4:c.G1140A:p.V380V exonic ENSG00000121440 NA synonymous SNV ENSG00000121440:ENST00000462146:exon2:c.G111A:p.V37V,ENSG00000121440:ENST00000466780:exon2:c.G111A:p.V37V,ENSG00000121440:ENST00000479530:exon2:c.G291A:p.V97V,ENSG00000121440:ENST00000492909:exon2:c.G234A:p.V78V,ENSG00000121440:ENST00000535920:exon2:c.G306A:p.V102V,ENSG00000121440:ENST00000263666:exon4:c.G1140A:p.V380V Score=415;Name=lod=65 NA 3p13 NA NA NA NA rs2291463 0.64 0.64 0.617 0.601637 0.5567 0.8353 0.6297 0.4811 0.5501 0.58 0.86 0.62 0.5 0.5936 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 -0.828134 NA NA 0.552442 0.5 NA 0.645 NA 4.9639246 1164 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 1164 1 17295679 17295679 T C exonic CROCC NA synonymous SNV CROCC:NM_014675:exon32:c.T5145C:p.A1715A exonic ENSG00000058453 NA synonymous SNV ENSG00000058453:ENST00000375541:exon32:c.T5145C:p.A1715A Score=471;Name=lod=109 NA 1p36.13 Score=743;Name=V$HOX13_01 NA NA NA rs4920574 0.94 0.94 0.942 0.944688 0.8907 0.9663 0.9496 0.9947 0.907 0.89 0.98 0.94 0.99 0.9155 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 1.430574 1.430574 NA 0.89672 0.984311 NA 0.942 NA 4.9637466 1164 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 1164 16 84209498 84209498 T C intronic DNAAF1 NA NA NA intronic ENSG00000154099 NA NA NA NA NA 16q24.1 NA Name=EBF1_(C-8),PU.1 Name=11 NA rs4782899 0.3 0.3 0.295 0.267372 0.3439 0.377 0.4049 0.0613 0.2566 0.34 0.41 0.34 0.07 0.3369 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.842059 NA NA 0.355698 0.111136 NA 0.217 NA 4.963502 1164 1 41204569 41204569 C T exonic NFYC NA synonymous SNV NFYC:NM_001142587:exon2:c.C54T:p.S18S,NFYC:NM_001142588:exon2:c.C54T:p.S18S,NFYC:NM_001142589:exon2:c.C54T:p.S18S,NFYC:NM_014223:exon2:c.C54T:p.S18S,NFYC:NM_001142590:exon7:c.C54T:p.S18S exonic ENSG00000066136 NA synonymous SNV ENSG00000066136:ENST00000308733:exon1:c.C54T:p.S18S,ENSG00000066136:ENST00000416859:exon1:c.C54T:p.S18S,ENSG00000066136:ENST00000525290:exon1:c.C54T:p.S18S,ENSG00000066136:ENST00000530965:exon1:c.C54T:p.S18S,ENSG00000066136:ENST00000372651:exon2:c.C54T:p.S18S,ENSG00000066136:ENST00000372652:exon2:c.C54T:p.S18S,ENSG00000066136:ENST00000372669:exon2:c.C54T:p.S18S,ENSG00000066136:ENST00000425457:exon2:c.C54T:p.S18S,ENSG00000066136:ENST00000427410:exon2:c.C54T:p.S18S,ENSG00000066136:ENST00000440226:exon2:c.C54T:p.S18S,ENSG00000066136:ENST00000447388:exon2:c.C54T:p.S18S,ENSG00000066136:ENST00000456393:exon2:c.C54T:p.S18S,ENSG00000066136:ENST00000372654:exon3:c.C54T:p.S18S,ENSG00000066136:ENST00000453631:exon3:c.C54T:p.S18S,ENSG00000066136:ENST00000531464:exon3:c.C54T:p.S18S,ENSG00000066136:ENST00000534399:exon4:c.C54T:p.S18S,ENSG00000066136:ENST00000372653:exon7:c.C54T:p.S18S Score=658;Name=lod=629 NA 1p34.2 NA NA NA NA rs1057925 0.5 0.5 0.529 0.482029 0.5895 0.4692 0.5115 0.4244 0.4417 0.57 0.49 0.52 0.39 0.5294 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.661338 1.661338 NA 0.584419 0.44621 NA 0.413 NA 4.9633476 1164 16 57552088 57552088 T C exonic CCDC102A NA synonymous SNV CCDC102A:NM_033212:exon6:c.A1140G:p.A380A exonic ENSG00000135736 NA synonymous SNV ENSG00000135736:ENST00000258214:exon6:c.A1140G:p.A380A NA NA 16q21 NA NA NA NA rs28756858 0.22 0.22 0.252 0.215256 0.2445 0.0288 0.1585 0.413 0.1503 0.25 0.02 0.19 0.44 0.2225 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.41311 1.41311 NA 0.236328 0.39081 NA 0.21 NA 4.9633386 1164 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 1164 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 1164 6 35259214 35259214 C T intronic ZNF76 NA NA NA intronic ENSG00000065029 NA NA NA NA NA 6p21.31 NA NA Name=5 NA rs56289885 0.01 0.01 0.007 0.00459265 0.0149 0.001 0.0029 0.0008 0.0041 0.02 NA 0.0028 0.002 0.0113 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 0.172723 NA NA 0.011395 0.002043 NA 0.007 NA 4.962405 1164 3 38622467 38622467 T C exonic SCN5A NA synonymous SNV SCN5A:NM_000335:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099404:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099405:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160160:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160161:exon17:c.A3183G:p.E1061E,SCN5A:NM_198056:exon17:c.A3183G:p.E1061E exonic ENSG00000183873 NA synonymous SNV ENSG00000183873:ENST00000414099:exon16:c.A3183G:p.E1061E,ENSG00000183873:ENST00000423572:exon16:c.A3183G:p.E1061E,ENSG00000183873:ENST00000449557:exon16:c.A3183G:p.E1061E,ENSG00000183873:ENST00000450102:exon16:c.A3183G:p.E1061E,ENSG00000183873:ENST00000455624:exon16:c.A3183G:p.E1061E,ENSG00000183873:ENST00000333535:exon17:c.A3183G:p.E1061E,ENSG00000183873:ENST00000413689:exon17:c.A3183G:p.E1061E,ENSG00000183873:ENST00000425664:exon17:c.A3183G:p.E1061E,ENSG00000183873:ENST00000443581:exon17:c.A3183G:p.E1061E,ENSG00000183873:ENST00000451551:exon17:c.A3183G:p.E1061E Score=333;Name=lod=30 NA 3p22.2 NA NA NA NA rs7430407 0.92 0.92 0.9 0.923123 0.9085 0.997 0.9164 0.8661 0.9438 0.91 1 0.91 0.84 0.9128 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.334619 NA NA 0.883004 0.888863 ID=COSM1485143,COSM1485142,COSM446444;OCCURENCE=1(breast) 0.833 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041613.1|RCV000127977.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.9623626 1164 16 68398924 68398924 C T exonic SMPD3 NA synonymous SNV SMPD3:NM_018667:exon4:c.G1395A:p.P465P exonic ENSG00000103056 NA synonymous SNV ENSG00000103056:ENST00000563226:exon2:c.G1395A:p.P465P,ENSG00000103056:ENST00000568373:exon2:c.G1395A:p.P465P,ENSG00000103056:ENST00000574662:exon2:c.G219A:p.P73P,ENSG00000103056:ENST00000219334:exon4:c.G1395A:p.P465P NA NA 16q22.1 NA Name=CTCF NA NA rs1868158 0.66 0.66 0.648 0.632388 0.5308 0.7698 0.6671 0.6679 0.5225 0.54 0.79 0.66 0.7 0.5964 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 2.69091 2.69091 NA 0.577209 0.654459 NA 0.594 NA 4.9622576 1164 2 9634856 9634856 A G exonic ADAM17 NA synonymous SNV ADAM17:NM_003183:exon15:c.T1824C:p.S608S exonic ENSG00000151694 NA synonymous SNV ENSG00000151694:ENST00000310823:exon15:c.T1824C:p.S608S NA NA 2p25.1 Score=830;Name=V$GR_Q6 NA NA NA rs1048610 0.45 0.45 0.456 0.464457 0.5845 0.0962 0.402 0.7171 0.4233 0.57 0.07 0.43 0.71 0.5121 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.880731 NA NA 0.607907 0.71902 NA 0.486 NA 4.9621596 1164 16 56642617 56642617 G C intronic MT2A NA NA NA intronic ENSG00000125148 NA NA NA NA NA 16q12.2 NA Name=HEY1,Pol2-4H8,Pol2(phosphoS2),Pol2,HA-E2F1,GTF2F1_(RAP-74),Pol2(b),Sin3Ak-20,Mxi1_(bHLH),Max,c-Myc NA NA rs34908770 0.0041 0.0041 NA 0.00299521 0.0099 NA 0.0072 NA NA 0.01 NA 0.01 NA 0.011 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 0.318829 NA NA 0.017209 0.002957 NA NA NA 4.961891 1164 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 1164 3 49054692 49054692 T C exonic DALRD3 NA nonsynonymous SNV DALRD3:NM_001009996:exon5:c.A896G:p.Q299R,DALRD3:NM_001276405:exon5:c.A896G:p.Q299R,DALRD3:NM_018114:exon5:c.A395G:p.Q132R exonic ENSG00000178149 NA nonsynonymous SNV ENSG00000178149:ENST00000313778:exon5:c.A395G:p.Q132R,ENSG00000178149:ENST00000341949:exon5:c.A896G:p.Q299R,ENSG00000178149:ENST00000420952:exon5:c.A791G:p.Q264R,ENSG00000178149:ENST00000441576:exon5:c.A896G:p.Q299R,ENSG00000178149:ENST00000395462:exon6:c.A395G:p.Q132R,ENSG00000178149:ENST00000440857:exon6:c.A395G:p.Q132R NA NA 3p21.31 NA NA NA NA rs3087866 0.88 0.88 0.869 0.904952 0.7863 1 0.8646 0.9017 0.9622 0.78 1 0.86 0.9 0.8278 1 0.86 T 0.0 B 0.0 B 0.027 N 1.000 P 0 N 1.38 T -0.955 T 0.000 T 0.105 -0.357 2.314 1.87 -0.042 0.142 8.283 -0.357331 NA 1 0.757907 0.87744 NA 0.899 NA 4.9613264 1164 1 90049040 90049040 A G exonic LRRC8B NA synonymous SNV LRRC8B:NM_015350:exon5:c.A831G:p.P277P,LRRC8B:NM_001134476:exon7:c.A831G:p.P277P exonic ENSG00000197147 NA synonymous SNV ENSG00000197147:ENST00000439853:exon4:c.A831G:p.P277P,ENSG00000197147:ENST00000330947:exon5:c.A831G:p.P277P,ENSG00000197147:ENST00000358200:exon7:c.A831G:p.P277P NA NA 1p22.2 NA NA NA NA rs36084789 0.17 0.17 0.156 0.161542 0.2117 0.1677 0.1225 0.034 0.3037 0.23 0.21 0.14 0.05 0.2344 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.15013 NA NA 0.259302 0.077394 NA 0.116 NA 4.9612646 1164 20 17605316 17605316 G A intronic RRBP1 NA NA NA intronic ENSG00000125844 NA NA NA NA NA 20p12.1 Score=796;Name=V$STAT3_01 NA NA NA rs79154579 0.02 0.02 0.01 0.0177716 0.0129 0.0516 0.0086 0.0045 0.0123 0.01 0.05 0.01 0.01 0.0178 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 0.716894 NA NA 0.008147 0.002501 NA 0.022 NA 4.961153 1164 16 427820 427820 C T exonic TMEM8A NA synonymous SNV TMEM8A:NM_021259:exon2:c.G150A:p.S50S exonic ENSG00000129925 NA synonymous SNV ENSG00000129925:ENST00000431232:exon2:c.G150A:p.S50S Score=565;Name=lod=264 NA 16p13.3 NA NA NA NA rs12922073 0.49 0.49 0.514 0.515176 0.5368 0.2996 0.4683 0.5582 0.6902 0.54 0.28 0.49 0.63 0.6001 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.646679 1.646679 NA 0.568715 0.582255 NA 0.428 NA 4.9610516 1164 12 111342558 111342558 G T exonic CCDC63 NA synonymous SNV CCDC63:NM_152591:exon11:c.G1509T:p.V503V exonic ENSG00000173093 NA synonymous SNV ENSG00000173093:ENST00000552694:exon9:c.G1272T:p.V424V,ENSG00000173093:ENST00000545036:exon10:c.G1389T:p.V463V,ENSG00000173093:ENST00000308208:exon11:c.G1509T:p.V503V NA NA 12q24.11 NA NA NA NA rs34300256 0.17 0.17 0.131 0.151358 0.2555 0.002 0.3516 0.1271 0.089 0.25 NA 0.3 0.15 0.2052 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.270233 NA NA 0.245116 0.145256 NA 0.232 NA 4.9608506 1164 17 79663931 79663931 T C exonic HGS NA synonymous SNV HGS:NM_004712:exon18:c.T1785C:p.P595P exonic ENSG00000185359 NA synonymous SNV ENSG00000185359:ENST00000571237:exon8:c.T792C:p.P264P,ENSG00000185359:ENST00000329138:exon18:c.T1785C:p.P595P NA NA 17q25.3 NA NA NA NA rs8070488 0.26 0.26 0.291 0.253794 0.2714 0.2252 0.1556 0.3729 0.1738 0.25 0.22 0.17 0.39 0.2155 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94489 NA NA 0.219078 0.358992 NA 0.275 NA 4.9606886 1164 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 1164 19 13988416 13988416 A G exonic NANOS3 NA synonymous SNV NANOS3:NM_001098622:exon1:c.A354G:p.T118T exonic ENSG00000187556 NA synonymous SNV ENSG00000187556:ENST00000339133:exon1:c.A354G:p.T118T,ENSG00000187556:ENST00000397555:exon2:c.A297G:p.T99T NA NA 19p13.13 NA NA NA NA rs2016163 0.37 0.37 0.375 0.405751 0.2127 0.3194 0.2478 0.7587 0.3282 0.22 0.36 0.25 0.72 0.2754 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.371887 NA NA 0.218508 0.691717 ID=COSM438697;OCCURENCE=1(breast) 0.37 NA 4.9600586 1164 6 10430171 10430171 T C ncRNA_exonic LINC00518 NA NA NA ncRNA_exonic ENSG00000183674 NA NA NA NA NA 6p24.3 NA Name=Max,CTCF,RFX5_(N-494) NA NA rs303061 0.23 0.23 0.224 0.27476 0.2097 0.2966 0.183 0.2428 0.4274 0.2 0.28 0.2 0.26 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 0.250203 NA NA 0.235814 0.229687 ID=COSM150046;OCCURENCE=1(stomach) 0.225 NA 4.9599526 1164 5 132198199 132198199 G A exonic GDF9 NA synonymous SNV GDF9:NM_005260:exon2:c.C447T:p.T149T exonic ENSG00000164404 NA synonymous SNV ENSG00000164404:ENST00000296875:exon2:c.C447T:p.T149T,ENSG00000164404:ENST00000378673:exon3:c.C447T:p.T149T NA NA 5q31.1 NA Name=STAT2,STAT1 NA NA rs254286 0.45 0.45 0.464 0.455871 0.5994 0.2897 0.4885 0.3313 0.6247 0.61 0.31 0.51 0.34 0.5276 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858408 NA NA 0.58 0.359382 NA 0.428 NA 4.9596666 1164 20 18445963 18445963 A G exonic DZANK1 NA synonymous SNV DZANK1:NM_001099407:exon2:c.T40C:p.L14L exonic ENSG00000089091 NA synonymous SNV ENSG00000089091:ENST00000262547:exon2:c.T40C:p.L14L,ENSG00000089091:ENST00000329494:exon2:c.T40C:p.L14L Score=543;Name=lod=215 NA 20p11.23 NA NA NA NA rs6035051 0.59 0.59 0.563 0.577676 0.5567 0.6101 0.572 0.6157 0.5184 0.55 0.56 0.58 0.67 0.5822 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 1.211946 NA NA 0.568276 0.598584 NA 0.522 NA 4.9594906 1164 4 128584580 128584580 G A exonic INTU NA synonymous SNV INTU:NM_015693:exon4:c.G813A:p.T271T exonic ENSG00000164066 NA synonymous SNV ENSG00000164066:ENST00000296461:exon4:c.G813A:p.T271T,ENSG00000164066:ENST00000335251:exon4:c.G813A:p.T271T,ENSG00000164066:ENST00000503626:exon4:c.G813A:p.T271T,ENSG00000164066:ENST00000503952:exon4:c.G813A:p.T271T NA NA 4q28.1 Score=807;Name=V$IRF1_01 NA NA NA rs4833380 0.6 0.6 0.599 0.64996 0.5646 0.5526 0.6023 0.7474 0.7403 0.55 0.54 0.63 0.74 0.5881 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.239207 NA NA 0.554535 0.720608 NA 0.601 NA 4.9594316 1164 4 120241849 120241849 A G exonic FABP2 NA synonymous SNV FABP2:NM_000134:exon2:c.T216C:p.N72N exonic ENSG00000145384 NA synonymous SNV ENSG00000145384:ENST00000274024:exon2:c.T216C:p.N72N Score=374;Name=lod=44 NA 4q26 NA NA NA NA rs4834770 0.59 0.59 0.583 0.585863 0.5676 0.6508 0.6499 0.5545 0.5348 0.56 0.63 0.62 0.57 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 -0.970541 NA NA 0.571993 0.550659 NA 0.406 NA 4.9591736 1164 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 1164 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=ZBTB33,Pol2(phosphoS2),USF-1,FOSL2 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 1164 19 51294854 51294854 C T intronic ACPT NA NA NA intronic ENSG00000142513 NA NA NA NA NA 19q13.33 NA Name=HNF4G_(SC-6558) NA NA rs117288213 0.02 0.02 0.014 0.0173722 0.0427 0.001 0.0187 0.0023 0.0276 0.04 0.0017 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 0.706914 NA NA NA NA NA 0.014 NA 4.9573 1164 15 99670278 99670278 C T exonic SYNM NA unknown UNKNOWN exonic ENSG00000182253 NA synonymous SNV ENSG00000182253:ENST00000560674:exon4:c.C855T:p.S285S,ENSG00000182253:ENST00000328642:exon5:c.C1710T:p.S570S,ENSG00000182253:ENST00000336292:exon5:c.C1710T:p.S570S NA NA 15q26.3 NA NA NA NA rs3134587 0.16 0.16 0.172 0.154553 0.1332 0.2708 0.0793 0.1044 0.1779 0.12 0.3 0.09 0.11 0.1322 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.221278 NA NA 0.111018 0.095064 NA 0.101 NA 4.9569153 1164 19 6416916 6416916 G T intronic KHSRP NA NA NA intronic ENSG00000088247 NA NA NA NA NA 19p13.3 NA NA Name=2 NA rs77809861 0.01 0.01 0.003 0.00858626 0.0119 NA 0.0029 NA 0.0297 0.01 NA 0.0028 NA 0.0149 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 -0.038534 NA NA 0.017296 0.002537 NA NA NA 4.955904 1164 6 158735090 158735090 T C exonic TULP4 NA synonymous SNV TULP4:NM_001007466:exon1:c.T42C:p.D14D,TULP4:NM_020245:exon1:c.T42C:p.D14D exonic ENSG00000130338 NA synonymous SNV ENSG00000130338:ENST00000367094:exon1:c.T42C:p.D14D,ENSG00000130338:ENST00000367097:exon1:c.T42C:p.D14D Score=569;Name=lod=275 NA 6q25.3 NA NA Name=12 NA rs7756620 0.86 0.86 0.85 0.866813 0.9155 0.9048 0.9063 0.73 0.9346 0.91 0.88 0.92 0.71 0.8944 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 -0.317682 NA NA 0.90093 0.746709 NA 0.899 NA 4.9558366 1164 2 24406357 24406357 C T intronic FAM228A NA NA NA intronic ENSG00000186453,ENSG00000266118 NA NA NA Score=289;Name=lod=20 NA 2p23.3 NA NA NA NA rs148489636 0.01 0.01 0.002 0.00359425 0.0119 NA 0.0058 0.0008 0.001 0.01 NA 0.01 0.002 0.0112 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 1.106764 NA NA 0.021082 0.005391 NA NA NA 4.955818 1164 17 77076440 77076440 G T exonic ENGASE NA synonymous SNV ENGASE:NM_001042573:exon5:c.G717T:p.S239S exonic ENSG00000167280 NA synonymous SNV ENSG00000167280:ENST00000539857:exon4:c.G159T:p.S53S,ENSG00000167280:ENST00000579016:exon5:c.G717T:p.S239S NA NA 17q25.3 NA NA NA NA rs3744186 0.33 0.33 0.324 0.391174 0.1948 0.3284 0.4265 0.553 0.4141 0.2 0.31 0.38 0.49 0.2948 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.181499 NA NA 0.221463 0.470223 NA 0.29 NA 4.9556036 1164 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 1165 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 1165 6 24698215 24698215 G A exonic ACOT13 NA synonymous SNV ACOT13:NM_018473:exon2:c.G186A:p.T62T,ACOT13:NM_001160094:exon3:c.G117A:p.T39T exonic ENSG00000112304 NA synonymous SNV ENSG00000112304:ENST00000230048:exon2:c.G186A:p.T62T,ENSG00000112304:ENST00000537591:exon3:c.G117A:p.T39T NA NA 6p22.3 NA NA NA NA rs7765904 0.16 0.16 0.132 0.147364 0.2475 0.0605 0.1643 0.1316 0.1431 0.24 0.07 0.15 0.14 0.2091 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.457217 NA NA 0.255465 0.159328 NA 0.152 NA 4.9546016 1165 16 427784 427784 G A exonic TMEM8A NA synonymous SNV TMEM8A:NM_021259:exon2:c.C186T:p.Y62Y exonic ENSG00000129925 NA synonymous SNV ENSG00000129925:ENST00000431232:exon2:c.C186T:p.Y62Y Score=565;Name=lod=264 NA 16p13.3 NA NA NA NA rs11641742 0.5 0.5 0.523 0.531749 0.5378 0.2996 0.4712 0.6188 0.6902 0.54 0.28 0.49 0.68 0.6088 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.168879 NA NA 0.566527 0.624828 NA 0.435 NA 4.9535396 1165 12 56398454 56398454 G C exonic SUOX NA synonymous SNV SUOX:NM_001032387:exon4:c.G1281C:p.S427S,SUOX:NM_001032386:exon5:c.G1281C:p.S427S,SUOX:NM_000456:exon6:c.G1281C:p.S427S exonic ENSG00000139531 NA synonymous SNV ENSG00000139531:ENST00000394109:exon3:c.G1281C:p.S427S,ENSG00000139531:ENST00000550065:exon3:c.G1281C:p.S427S,ENSG00000139531:ENST00000356124:exon4:c.G1281C:p.S427S,ENSG00000139531:ENST00000266971:exon5:c.G1281C:p.S427S,ENSG00000139531:ENST00000548274:exon5:c.G1281C:p.S427S,ENSG00000139531:ENST00000394115:exon6:c.G1281C:p.S427S Score=560;Name=lod=252 NA 12q13.2 NA NA NA NA rs773115 0.79 0.79 0.754 0.752196 0.9205 0.9355 0.8977 0.2617 0.9499 0.92 0.99 0.9 0.28 0.873 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 0.204225 NA NA 0.919767 0.376759 NA 0.739 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118423.2;CLNDSDB=.;CLNDSDBID=. 4.9533996 1165 16 8866582 8866582 G A intronic ABAT NA NA NA intronic ENSG00000183044 NA NA NA NA NA 16p13.2 NA Name=CEBPB NA NA rs9937726 0.09 0.09 0.099 0.10004 0.0467 0.0099 0.0879 0.2564 0.045 0.05 0.01 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 -0.815304 NA NA NA NA NA 0.138 NA 4.9533 1165 3 194080336 194080336 G A exonic LRRC15 NA synonymous SNV LRRC15:NM_130830:exon2:c.C1437T:p.P479P,LRRC15:NM_001135057:exon3:c.C1455T:p.P485P exonic ENSG00000172061 NA synonymous SNV ENSG00000172061:ENST00000347624:exon2:c.C1437T:p.P479P,ENSG00000172061:ENST00000439944:exon2:c.C1455T:p.P485P,ENSG00000172061:ENST00000428839:exon3:c.C1455T:p.P485P NA NA 3q29 NA NA NA NA rs4974533 0.17 0.17 0.17 0.14976 0.2425 0.0685 0.1398 0.1657 0.1237 0.25 0.08 0.15 0.16 0.2139 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.716168 NA NA 0.257674 0.169542 ID=COSM1178304;OCCURENCE=1(prostate) 0.217 NA 4.9525926 1165 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 1165 16 31426131 31426131 G A intronic ITGAD NA NA NA intronic ENSG00000156886 NA NA NA NA NA 16p11.2 NA Name=ZNF263 NA NA rs113509238 0.01 0.01 0.007 0.00559105 0.0179 NA 0.0101 0.0008 0.002 0.01 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 -0.066813 NA NA 0.019419 0.004779 NA 0.014 NA 4.951581 1165 3 194081635 194081635 T C exonic LRRC15 NA synonymous SNV LRRC15:NM_130830:exon2:c.A138G:p.A46A,LRRC15:NM_001135057:exon3:c.A156G:p.A52A exonic ENSG00000172061 NA synonymous SNV ENSG00000172061:ENST00000347624:exon2:c.A138G:p.A46A,ENSG00000172061:ENST00000439944:exon2:c.A156G:p.A52A,ENSG00000172061:ENST00000428839:exon3:c.A156G:p.A52A NA NA 3q29 NA NA NA NA rs923935 0.17 0.17 0.158 0.147165 0.2416 0.0685 0.1398 0.1566 0.1237 0.25 0.08 0.15 0.16 0.2162 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.718561 NA NA 0.257442 0.167726 NA 0.217 NA 4.9514246 1165 17 17698254 17698254 G A exonic RAI1 NA synonymous SNV RAI1:NM_030665:exon3:c.G1992A:p.P664P exonic ENSG00000108557 NA synonymous SNV ENSG00000108557:ENST00000261641:exon1:c.G1992A:p.P664P,ENSG00000108557:ENST00000395774:exon2:c.G1992A:p.P664P,ENSG00000108557:ENST00000353383:exon3:c.G1992A:p.P664P NA NA 17p11.2 NA NA NA NA rs8067439 0.45 0.45 0.469 0.39976 0.5875 0.1617 0.4395 0.5522 0.2178 0.59 0.16 0.49 0.55 0.5069 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.952989 NA NA 0.621628 0.561053 NA 0.522 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082257.3;CLNDSDB=.;CLNDSDBID=. 4.9506386 1165 11 67209869 67209869 T G intronic CORO1B NA NA NA intronic ENSG00000172725 NA NA NA NA NA 11q13.2 NA NA Name=3 NA rs80182011 0.04 0.04 0.008 0.0477236 0.004 0.0347 0.2651 0.0121 NA 0.004 0.02 0.2 0.01 0.0417 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.716174 NA NA 0.003726 0.0175 NA 0.029 NA 4.950574 1165 11 100863354 100863354 C A exonic TMEM133 NA synonymous SNV TMEM133:NM_032021:exon1:c.C315A:p.V105V exonic ENSG00000170647 NA synonymous SNV ENSG00000170647:ENST00000303130:exon1:c.C315A:p.V105V NA NA 11q22.1 NA NA NA NA rs471933 0.35 0.35 0.333 0.384984 0.1988 0.756 0.3934 0.1225 0.5429 0.21 0.74 0.33 0.13 0.3108 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894309 NA NA 0.206628 0.132773 NA 0.261 NA 4.9504386 1165 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 1165 22 40057273 40057273 T C exonic CACNA1I NA synonymous SNV CACNA1I:NM_001003406:exon15:c.T2754C:p.S918S,CACNA1I:NM_021096:exon16:c.T2859C:p.S953S exonic ENSG00000100346 NA synonymous SNV ENSG00000100346:ENST00000404898:exon15:c.T2754C:p.S918S,ENSG00000100346:ENST00000407673:exon15:c.T2754C:p.S918S,ENSG00000100346:ENST00000401624:exon16:c.T2859C:p.S953S,ENSG00000100346:ENST00000402142:exon16:c.T2859C:p.S953S,ENSG00000100346:ENST00000400164:exon18:c.T2754C:p.S918S,ENSG00000100346:ENST00000336649:exon19:c.T2877C:p.S959S NA NA 22q13.1 NA NA Name=2 NA rs136852 0.73 0.73 0.718 0.736821 0.5527 0.994 0.7363 0.792 0.5869 0.54 1 0.7 0.75 0.6302 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.725353 1.725353 NA 0.533841 0.76384 NA 0.739 NA 4.9499256 1165 11 65793797 65793797 G A exonic CATSPER1 NA synonymous SNV CATSPER1:NM_053054:exon1:c.C54T:p.N18N exonic ENSG00000175294 NA synonymous SNV ENSG00000175294:ENST00000312106:exon1:c.C54T:p.N18N NA NA 11q13.1 NA NA NA NA rs1893316 0.2 0.2 0.161 0.165935 0.2435 0.2292 0.389 0.0106 0.0726 0.24 0.23 0.33 0.02 0.2316 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429847 NA NA 0.241969 0.053839 NA 0.145 NA 4.9495976 1165 X 134421168 134421168 C T exonic ZNF75D NA synonymous SNV ZNF75D:NM_001185063:exon4:c.G1149A:p.T383T,ZNF75D:NM_007131:exon6:c.G1434A:p.T478T exonic ENSG00000186376 NA synonymous SNV ENSG00000186376:ENST00000370764:exon4:c.G1149A:p.T383T,ENSG00000186376:ENST00000370766:exon7:c.G1434A:p.T478T NA NA Xq26.3 NA NA NA NA rs1129093 0.2 0.2 0.19078 NA NA NA NA NA NA 0.41 0.04 0.28 0.03 0.2934 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.448425 NA NA 0.423751 0.070404 NA 0.116 NA 4.9495156 1165 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 1165 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 1165 14 91773568 91773568 T C exonic CCDC88C NA synonymous SNV CCDC88C:NM_001080414:exon18:c.A3009G:p.L1003L exonic ENSG00000015133 NA synonymous SNV ENSG00000015133:ENST00000389857:exon18:c.A3009G:p.L1003L Score=405;Name=lod=59 NA 14q32.11 NA NA NA NA rs1970912 0.52 0.52 0.503 0.480431 0.5994 0.3552 0.4914 0.5522 0.3824 0.59 0.39 0.56 0.54 0.5336 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.185789 NA NA 0.584412 0.569059 NA 0.63 NA 4.9492546 1165 1 43296173 43296173 C T exonic ERMAP NA synonymous SNV ERMAP:NM_018538:exon2:c.C54T:p.L18L,ERMAP:NM_001017922:exon3:c.C54T:p.L18L exonic ENSG00000164010 NA synonymous SNV ENSG00000164010:ENST00000372514:exon2:c.C54T:p.L18L,ENSG00000164010:ENST00000372517:exon3:c.C54T:p.L18L NA NA 1p34.2 NA NA NA NA rs33950227 0.16 0.16 0.121 0.146366 0.2525 0.0099 0.2579 0.0923 0.1718 0.25 0.01 0.29 0.11 0.2226 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.191274 NA NA 0.24314 0.120064 NA 0.123 NA 4.9484266 1165 2 191231503 191231503 G A exonic INPP1 NA synonymous SNV INPP1:NM_002194:exon4:c.G348A:p.V116V,INPP1:NM_001128928:exon5:c.G348A:p.V116V exonic ENSG00000151689 NA synonymous SNV ENSG00000151689:ENST00000322522:exon4:c.G348A:p.V116V,ENSG00000151689:ENST00000409027:exon4:c.G348A:p.V116V,ENSG00000151689:ENST00000423767:exon4:c.G348A:p.V116V,ENSG00000151689:ENST00000444194:exon4:c.G348A:p.V116V,ENSG00000151689:ENST00000458647:exon4:c.G348A:p.V116V,ENSG00000151689:ENST00000392329:exon5:c.G348A:p.V116V,ENSG00000151689:ENST00000431594:exon5:c.G348A:p.V116V,ENSG00000151689:ENST00000541441:exon6:c.G348A:p.V116V NA NA 2q32.2 NA NA NA NA rs10931450 0.31 0.31 0.317 0.276558 0.2316 0.4623 0.2233 0.2201 0.2454 0.23 0.5 0.23 0.25 0.2484 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388896 NA NA 0.238372 0.2197 NA 0.174 NA 4.9482946 1165 19 40406019 40406019 G A exonic FCGBP NA synonymous SNV FCGBP:NM_003890:exon10:c.C4827T:p.C1609C exonic ENSG00000090920 NA synonymous SNV ENSG00000090920:ENST00000221347:exon10:c.C4827T:p.C1609C NA NA 19q13.2 NA NA NA NA rs2355719 0.28 0.28 0.231 0.261182 0.3419 0.2163 0.402 0.1566 0.2658 0.34 0.22 0.4 0.17 0.3766 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058969 NA NA NA NA NA 0.196 NA 4.9481666 1165 11 10650329 10650329 C T exonic MRVI1 NA synonymous SNV MRVI1:NM_001098579:exon5:c.G594A:p.R198R,MRVI1:NM_001100163:exon6:c.G348A:p.R116R,MRVI1:NM_001206880:exon6:c.G621A:p.R207R,MRVI1:NM_130385:exon6:c.G621A:p.R207R exonic ENSG00000072952 NA synonymous SNV ENSG00000072952:ENST00000533631:exon4:c.G309A:p.R103R,ENSG00000072952:ENST00000421747:exon5:c.G594A:p.R198R,ENSG00000072952:ENST00000436272:exon5:c.G594A:p.R198R,ENSG00000072952:ENST00000531107:exon5:c.G594A:p.R198R,ENSG00000072952:ENST00000547195:exon5:c.G348A:p.R116R,ENSG00000072952:ENST00000552103:exon5:c.G348A:p.R116R,ENSG00000072952:ENST00000423302:exon6:c.G621A:p.R207R,ENSG00000072952:ENST00000526414:exon6:c.G468A:p.R156R,ENSG00000072952:ENST00000527509:exon6:c.G348A:p.R116R,ENSG00000072952:ENST00000541483:exon6:c.G621A:p.R207R Score=389;Name=lod=51 NA 11p15.4 NA NA NA NA rs2278125 0.6 0.6 0.578 0.580871 0.5427 0.7153 0.6412 0.525 0.5143 0.56 0.72 0.6 0.54 0.6158 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.559344 NA NA 0.561051 0.533694 NA 0.623 NA 4.9471156 1165 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 1165 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 1165 11 67049216 67049216 C T intronic ADRBK1 NA NA NA intronic ENSG00000173020 NA NA NA NA NA 11q13.2 NA NA Name=3 NA rs885833 0.05 0.05 0.025 0.0636981 0.004 0.0298 0.2637 0.0764 0.001 0.004 0.02 0.2 0.06 0.0453 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.019405 NA NA 0.004424 0.06 NA 0.051 NA 4.946276 1165 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$USF_01 NA NA NA rs2230757 0.62 0.62 0.569 0.608626 0.5706 0.7411 0.6974 0.5439 0.5358 0.57 0.75 0.68 0.49 0.5977 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.026789 NA NA 0.552326 0.576033 NA 0.471 NA 4.9460406 1165 5 75923285 75923285 C T exonic IQGAP2 NA synonymous SNV IQGAP2:NM_006633:exon14:c.C1572T:p.A524A exonic ENSG00000145703 NA synonymous SNV ENSG00000145703:ENST00000396234:exon3:c.C231T:p.A77A,ENSG00000145703:ENST00000502745:exon3:c.C231T:p.A77A,ENSG00000145703:ENST00000509074:exon3:c.C231T:p.A77A,ENSG00000145703:ENST00000513534:exon3:c.C231T:p.A77A,ENSG00000145703:ENST00000514001:exon3:c.C231T:p.A77A,ENSG00000145703:ENST00000505766:exon13:c.C1422T:p.A474A,ENSG00000145703:ENST00000274364:exon14:c.C1572T:p.A524A,ENSG00000145703:ENST00000379730:exon14:c.C249T:p.A83A,ENSG00000145703:ENST00000514350:exon14:c.C1491T:p.A497A NA NA 5q13.3 Score=883;Name=V$CDPCR1_01 NA NA NA rs2431351 0.53 0.53 0.512 0.542732 0.5915 0.4712 0.4856 0.5386 0.6125 0.59 0.51 0.49 0.5 0.5529 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.018777 NA NA 0.576279 0.539265 ID=COSM149858;OCCURENCE=1(stomach) 0.58 NA 4.9459876 1165 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 1165 8 12879539 12879539 A G exonic KIAA1456 NA nonsynonymous SNV KIAA1456:NM_001099677:exon2:c.A973G:p.R325G,KIAA1456:NM_020844:exon5:c.A1351G:p.R451G exonic ENSG00000250305 NA nonsynonymous SNV ENSG00000250305:ENST00000524591:exon5:c.A1351G:p.R451G NA NA 8p22 NA NA NA NA rs608052 0.74 0.74 0.718 0.704673 0.8221 0.7946 0.7608 0.5605 0.6462 0.82 0.78 0.77 0.57 0.7632 0.82 0.5 T 0.0 B 0.0 B 0.203 N 1.000 P -0.55 N 2.64 T -1.015 T 0.000 T 0.015 -0.906 0.426 0.894 0.061 0.696 5.897 -0.9058 NA 0.35 0.802564 0.6022 NA 0.696 NA 4.9454694 1165 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 1165 14 23374435 23374435 G A exonic RBM23 NA synonymous SNV RBM23:NM_001077352:exon6:c.C492T:p.I164I,RBM23:NM_018107:exon7:c.C546T:p.I182I,RBM23:NM_001077351:exon8:c.C594T:p.I198I exonic ENSG00000100461 NA synonymous SNV ENSG00000100461:ENST00000555722:exon5:c.C84T:p.I28I,ENSG00000100461:ENST00000557403:exon5:c.C84T:p.I28I,ENSG00000100461:ENST00000346528:exon6:c.C492T:p.I164I,ENSG00000100461:ENST00000542016:exon6:c.C84T:p.I28I,ENSG00000100461:ENST00000399922:exon7:c.C546T:p.I182I,ENSG00000100461:ENST00000359890:exon8:c.C594T:p.I198I Score=657;Name=lod=622 NA 14q11.2 NA NA NA NA rs2295680 0.52 0.52 0.489 0.516174 0.5815 0.8016 0.6095 0.0356 0.7382 0.59 0.78 0.6 0.05 0.5803 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 2.37125 2.37125 NA 0.559598 0.134806 NA 0.413 NA 4.9452686 1166 6 43041618 43041618 A G intronic KLC4 NA NA NA intronic ENSG00000137171 NA NA NA NA NA 6p21.1 NA Name=ZNF263 NA NA rs114803978 0.01 0.01 0.007 0.00838658 0.0239 NA 0.0173 NA 0.0061 0.02 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 -0.13653 NA NA 0.018256 0.00227 NA 0.014 NA 4.944844 1166 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 1166 16 71780485 71780485 G A intronic AP1G1 NA NA NA intronic ENSG00000166747 NA NA NA NA NA 16q22.2 NA Name=SMC3_(ab9263),Rad21,CTCF_(SC-5916),CTCF_(C-20),CTCF Name=124 NA rs2270832 0.44 0.44 0.427 0.422125 0.3231 0.7609 0.5259 0.264 0.3149 0.31 0.74 0.46 0.27 0.3937 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.131254 NA NA 0.33907 0.277525 NA 0.326 NA 4.94413 1166 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 1166 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 1166 19 55966346 55966346 C T intronic ISOC2 NA NA NA intronic ENSG00000063241 NA NA NA NA NA 19q13.42 NA Name=CTCF,CTCF_(SC-5916),Znf143_(16618-1-AP),Rad21,SMC3_(ab9263) Name=77 NA rs2277959 0.38 0.38 0.342 0.401757 0.3479 0.3095 0.4496 0.4561 0.4448 0.34 0.36 0.4 0.43 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 -0.63897 NA NA 0.332791 0.406676 NA 0.428 NA 4.943709 1166 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 1166 22 31533967 31533967 G A exonic PLA2G3 NA synonymous SNV PLA2G3:NM_015715:exon4:c.C795T:p.Y265Y exonic ENSG00000100078 NA synonymous SNV ENSG00000100078:ENST00000215885:exon4:c.C795T:p.Y265Y Score=278;Name=lod=18 NA 22q12.2 NA NA NA NA rs2074739 0.48 0.48 0.471 0.536342 0.5736 0.3948 0.4395 0.472 0.7996 0.57 0.39 0.47 0.44 0.5658 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669515 NA NA 0.583953 0.465275 NA 0.565 NA 4.9433136 1166 20 35769592 35769592 T C exonic MROH8 NA unknown UNKNOWN exonic ENSG00000101353 NA synonymous SNV ENSG00000101353:ENST00000400441:exon12:c.A1461G:p.A487A,ENSG00000101353:ENST00000441008:exon14:c.A1419G:p.A473A Score=309;Name=lod=24 NA 20q11.23 NA NA NA NA rs1744769 0.75 0.75 0.77 0.766773 0.8002 0.505 0.755 0.969 0.7372 0.79 0.5 0.77 0.97 0.7709 0.97 . . . . . . . . 0.000 P . . . . -1.029 T 0.000 T . 0.12 4.647 1.56 0.161 -0.222 5.581 0.120278 NA NA 0.819201 0.934479 NA 0.833 NA 4.9430323 1166 19 54307322 54307322 G A exonic NLRP12 NA synonymous SNV NLRP12:NM_001277126:exon6:c.C2472T:p.L824L,NLRP12:NM_001277129:exon6:c.C2469T:p.L823L,NLRP12:NM_144687:exon6:c.C2469T:p.L823L exonic ENSG00000142405 NA synonymous SNV ENSG00000142405:ENST00000324134:exon6:c.C2469T:p.L823L,ENSG00000142405:ENST00000345770:exon6:c.C2472T:p.L824L,ENSG00000142405:ENST00000351894:exon6:c.C2469T:p.L823L,ENSG00000142405:ENST00000354278:exon6:c.C2469T:p.L823L,ENSG00000142405:ENST00000391772:exon6:c.C2472T:p.L824L,ENSG00000142405:ENST00000391773:exon6:c.C2472T:p.L824L,ENSG00000142405:ENST00000391775:exon6:c.C2469T:p.L823L,ENSG00000142405:ENST00000535162:exon6:c.C2469T:p.L823L NA NA 19q13.42 NA Name=YY1 NA NA rs12460528 0.51 0.51 0.45 0.426717 0.5805 0.5675 0.5778 0.1346 0.411 0.65 0.58 0.62 0.14 0.5186 0.65 NA NA 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 0.624651 0.215388 NA 0.449 NA 4.9429156 1166 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 1166 14 21215997 21215997 C T exonic EDDM3A NA synonymous SNV EDDM3A:NM_006683:exon2:c.C258T:p.S86S exonic ENSG00000181562 NA synonymous SNV ENSG00000181562:ENST00000326842:exon2:c.C258T:p.S86S NA NA 14q11.2 NA NA NA NA rs11847654 0.28 0.28 0.256 0.282748 0.2316 0.4573 0.3228 0.1135 0.3558 0.22 0.45 0.35 0.14 0.2586 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.490509 NA NA 0.233953 0.133227 NA 0.333 NA 4.9425136 1166 3 178560581 178560581 A C exonic KCNMB2 NA synonymous SNV KCNMB2:NM_181361:exon5:c.A564C:p.T188T,KCNMB2:NM_005832:exon6:c.A564C:p.T188T exonic ENSG00000197584 NA synonymous SNV ENSG00000197584:ENST00000358316:exon4:c.A564C:p.T188T,ENSG00000197584:ENST00000432997:exon5:c.A564C:p.T188T,ENSG00000197584:ENST00000452583:exon5:c.A564C:p.T188T,ENSG00000197584:ENST00000420517:exon6:c.A564C:p.T188T Score=559;Name=lod=249 NA 3q26.32 NA NA NA NA rs6443583 0.56 0.56 0.589 0.580471 0.5795 0.2212 0.5259 0.9266 0.5225 0.57 0.25 0.52 0.95 0.5611 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 0.462393 NA NA 0.583605 0.868815 NA 0.703 NA 4.9424616 1166 9 124914613 124914613 C T exonic NDUFA8 NA synonymous SNV NDUFA8:NM_014222:exon2:c.G126A:p.E42E exonic ENSG00000119421 NA synonymous SNV ENSG00000119421:ENST00000373768:exon2:c.G126A:p.E42E,ENSG00000119421:ENST00000537618:exon2:c.G126A:p.E42E Score=609;Name=lod=398 NA 9q33.2 NA NA NA NA rs4679 0.36 0.36 0.335 0.337859 0.6074 0.2014 0.3689 0.0908 0.5133 0.61 0.2 0.42 0.12 0.5034 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.297093 1.297093 NA 0.613605 0.156605 ID=COSM1459793;OCCURENCE=1(large_intestine) 0.399 NA 4.9422616 1166 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 1166 6 170176647 170176647 C T exonic C6orf70 NA synonymous SNV C6orf70:NM_018341:exon16:c.C1617T:p.I539I exonic ENSG00000130023 NA synonymous SNV ENSG00000130023:ENST00000392095:exon15:c.C1239T:p.I413I,ENSG00000130023:ENST00000588451:exon15:c.C1209T:p.I403I,ENSG00000130023:ENST00000366773:exon16:c.C1617T:p.I539I NA NA 6q27 NA NA NA NA rs4716399 0.27 0.27 0.312 0.34365 0.2366 0.3304 0.304 0.497 0.2883 0.19 0.28 0.25 0.37 0.2661 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.922971 NA NA 0.222442 0.479573 NA NA NA 4.9415246 1166 7 107559732 107559732 G T UTR3 DLD NM_000108:c.*28G>T NA NA UTR3 ENSG00000091140 ENST00000205402:c.*28G>T,ENST00000537148:c.*28G>T,ENST00000417551:c.*28G>T,ENST00000415325:c.*1232G>T,ENST00000440410:c.*28G>T,ENST00000437604:c.*28G>T NA NA Score=325;Name=lod=28 NA 7q31.1 NA NA NA NA rs17154615 0.2 0.2 0.184 0.20028 0.1262 0.5109 0.1844 0.0076 0.228 0.13 0.5 0.13 0.01 0.1597 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.012095 4.012095 NA 0.106028 0.0286 NA 0.145 NA 4.9414054 1166 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 1166 6 42600319 42600319 A G exonic UBR2 NA synonymous SNV UBR2:NM_015255:exon12:c.A1311G:p.L437L exonic ENSG00000024048 NA synonymous SNV ENSG00000024048:ENST00000372899:exon12:c.A1311G:p.L437L,ENSG00000024048:ENST00000372901:exon12:c.A1311G:p.L437L Score=697;Name=lod=907 NA 6p21.1 Score=875;Name=V$CART1_01 NA NA NA rs5014584 0.94 0.94 0.947 0.937899 0.8936 1 0.9222 0.9766 0.8783 0.9 1 0.9 0.97 0.9171 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.232044 NA NA 0.914748 0.960962 NA 0.949 NA 4.9412186 1166 6 43403792 43403792 G C intronic ABCC10 NA NA NA intronic ENSG00000124574 NA NA NA NA NA 6p21.1 Score=878;Name=V$GATA1_03 NA NA NA rs864392 0.05 0.05 0.058 0.0640974 0.0179 0.0079 0.0101 0.1884 0.0399 0.02 0.01 0.01 0.18 0.0292 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032332 NA NA 0.012326 0.161825 NA 0.087 NA 4.940574 1166 19 49971596 49971596 C T intronic ALDH16A1 NA NA NA intronic ENSG00000161618,ENSG00000269469 NA NA NA NA NA 19q13.33 NA Name=CTCF,ZEB1_(SC-25388) Name=11 NA rs11879863 0.34 0.34 0.355 0.353235 0.3598 0.3155 0.2536 0.4478 0.3282 0.34 0.28 0.28 0.47 0.3485 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671786 NA NA 0.351128 0.40808 NA 0.449 NA 4.940572 1166 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 1166 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 1166 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 1166 16 27974487 27974487 T C exonic GSG1L NA synonymous SNV GSG1L:NM_001109763:exon2:c.A387G:p.A129A exonic ENSG00000169181 NA synonymous SNV ENSG00000169181:ENST00000395724:exon2:c.A387G:p.A129A,ENSG00000169181:ENST00000447459:exon2:c.A387G:p.A129A NA NA 16p12.1 Score=875;Name=V$ZID_01 NA NA NA rs2051743 0.6 0.6 0.599 0.580671 0.5577 0.754 0.6787 0.4244 0.5675 0.57 0.78 0.65 0.4 0.5887 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 0.528183 NA NA 0.580192 0.460421 NA 0.558 NA 4.9400746 1166 10 88203068 88203068 T C exonic WAPAL NA synonymous SNV WAPAL:NM_015045:exon17:c.A3375G:p.T1125T exonic ENSG00000062650 NA synonymous SNV ENSG00000062650:ENST00000372075:exon8:c.A1011G:p.T337T,ENSG00000062650:ENST00000263070:exon9:c.A1011G:p.T337T,ENSG00000062650:ENST00000298767:exon17:c.A3375G:p.T1125T Score=655;Name=lod=610 NA 10q23.2 NA NA Name=65 NA rs7094132 0.81 0.81 0.822 0.813898 0.9334 0.629 0.7695 0.8147 0.9121 0.93 0.65 0.78 0.83 0.8708 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 1.395104 1.395104 NA 0.922442 0.830912 NA 0.899 NA 4.9400246 1166 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 1166 11 60637164 60637164 C T exonic ZP1 NA nonsynonymous SNV ZP1:NM_207341:exon3:c.C473T:p.T158I exonic ENSG00000149506 NA nonsynonymous SNV ENSG00000149506:ENST00000278853:exon3:c.C473T:p.T158I NA NA 11q12.2 NA NA NA NA rs489172 0.71 0.71 0.688 0.693291 0.8161 0.4038 0.8213 0.8359 0.5818 0.81 0.39 0.85 0.82 0.7577 0.85 0.53 T 0.061 B 0.006 B 0.206 N 1.000 P 0.69 N 1.9 T -0.995 T 0.000 T 0.046 0.958 8.909 1.19 0.406 -0.258 4.400 0.958155 NA 0.17 0.82054 0.842941 NA 0.812 NA 4.9389934 1166 7 92131289 92131289 G T exonic PEX1 NA synonymous SNV PEX1:NM_000466:exon14:c.C2331A:p.G777G exonic ENSG00000127980 NA synonymous SNV ENSG00000127980:ENST00000438045:exon11:c.C1365A:p.G455G,ENSG00000127980:ENST00000428214:exon13:c.C2160A:p.G720G,ENSG00000127980:ENST00000248633:exon14:c.C2331A:p.G777G Score=519;Name=lod=172 NA 7q21.2 NA NA NA NA rs10278857 0.93 0.93 0.947 0.94988 0.8936 0.9653 0.9366 0.9871 0.9509 0.89 0.95 0.91 0.99 0.9218 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 0.980997 NA NA 0.912442 0.96936 NA 0.986 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078920.3;CLNDSDB=.;CLNDSDBID=. 4.9388246 1166 X 49071964 49071964 A G exonic CACNA1F NA synonymous SNV CACNA1F:NM_001256789:exon28:c.T3276C:p.H1092H,CACNA1F:NM_001256790:exon28:c.T3114C:p.H1038H,CACNA1F:NM_005183:exon28:c.T3309C:p.H1103H exonic ENSG00000102001 NA synonymous SNV ENSG00000102001:ENST00000323022:exon28:c.T3276C:p.H1092H,ENSG00000102001:ENST00000376251:exon28:c.T3114C:p.H1038H,ENSG00000102001:ENST00000376265:exon28:c.T3309C:p.H1103H NA NA Xp11.23 NA NA NA NA rs2075866 0.55 0.55 0.53816 NA NA NA NA NA NA 0.3 0.65 0.58 0.81 0.4349 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 -1.705711 NA NA 0.292955 0.741069 NA 0.37 NA 4.9388116 1166 20 1617069 1617069 A G exonic SIRPG NA synonymous SNV SIRPG:NM_001039508:exon3:c.T513C:p.H171H,SIRPG:NM_018556:exon3:c.T513C:p.H171H exonic ENSG00000089012 NA synonymous SNV ENSG00000089012:ENST00000216927:exon3:c.T513C:p.H171H,ENSG00000089012:ENST00000303415:exon3:c.T513C:p.H171H,ENSG00000089012:ENST00000381580:exon3:c.T414C:p.H138H,ENSG00000089012:ENST00000381583:exon3:c.T513C:p.H171H NA NA 20p13 NA NA NA NA rs2277761 0.23 0.23 0.191 0.229233 0.2376 0.2103 0.366 0.1619 0.2342 0.25 0.23 0.3 0.16 0.2425 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.485046 NA NA 0.24814 0.164775 NA 0.232 NA 4.9384266 1166 16 3299749 3299749 G A exonic MEFV NA synonymous SNV MEFV:NM_001198536:exon2:c.C309T:p.R103R,MEFV:NM_000243:exon3:c.C942T:p.R314R exonic ENSG00000103313 NA synonymous SNV ENSG00000103313:ENST00000536379:exon2:c.C309T:p.R103R,ENSG00000103313:ENST00000536980:exon2:c.C309T:p.R103R,ENSG00000103313:ENST00000541159:exon2:c.C309T:p.R103R,ENSG00000103313:ENST00000219596:exon3:c.C942T:p.R314R,ENSG00000103313:ENST00000339854:exon3:c.C402T:p.R134R,ENSG00000103313:ENST00000537682:exon3:c.C942T:p.R314R,ENSG00000103313:ENST00000538326:exon3:c.C942T:p.R314R,ENSG00000103313:ENST00000542898:exon4:c.C1035T:p.R345R NA NA 16p13.3 NA NA NA NA rs224213 0.66 0.66 0.669 0.690695 0.5606 0.7083 0.6412 0.7322 0.7853 0.56 0.71 0.65 0.77 0.6283 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 -1.093831 NA NA 0.539419 0.705735 NA 0.696 CLINSIG=non-pathogenic;CLNDBN=Familial_Mediterranean_fever;CLNREVSTAT=single;CLNACC=RCV000030188.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1227:C0031069:249100:ORPHA342:12579009 4.9383476 1166 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 1166 20 62126185 62126185 A G exonic EEF1A2 NA synonymous SNV EEF1A2:NM_001958:exon4:c.T594C:p.G198G exonic ENSG00000101210 NA synonymous SNV ENSG00000101210:ENST00000298049:exon3:c.T594C:p.G198G,ENSG00000101210:ENST00000217182:exon4:c.T594C:p.G198G NA NA 20q13.33 Score=764;Name=V$MYOGNF1_01 NA NA NA rs310617 0.59 0.59 0.592 0.591653 0.5934 0.6181 0.5029 0.59 0.6278 0.61 0.63 0.52 0.57 0.571 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 -0.399885 NA NA 0.5641 0.593209 ID=COSM444218;OCCURENCE=1(breast) 0.659 NA 4.9381666 1166 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 1166 2 182374534 182374534 A G exonic ITGA4 NA synonymous SNV ITGA4:NM_000885:exon16:c.A1845G:p.T615T exonic ENSG00000115232 NA synonymous SNV ENSG00000115232:ENST00000397033:exon16:c.A1845G:p.T615T Score=343;Name=lod=33 NA 2q31.3 NA NA NA NA rs1143674 0.59 0.59 0.589 0.661542 0.5328 0.631 0.6282 0.6634 0.8466 0.52 0.61 0.58 0.68 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 2.066526 2.066526 NA 0.577671 0.652004 NA 0.609 NA 4.9374956 1166 15 86800209 86800209 C T exonic AGBL1 NA synonymous SNV AGBL1:NM_152336:exon7:c.C723T:p.P241P exonic ENSG00000166748 NA synonymous SNV ENSG00000166748:ENST00000421325:exon6:c.C723T:p.P241P,ENSG00000166748:ENST00000441037:exon7:c.C723T:p.P241P Score=295;Name=lod=21 NA 15q25.3 NA NA NA NA rs1353578 0.52 0.52 0.519 0.539736 0.5765 0.2163 0.5346 0.7655 0.5337 0.56 0.22 0.55 0.76 0.5547 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 -0.70791 NA NA 0.59814 0.742633 NA 0.594 NA 4.9373266 1166 11 100863096 100863096 A G exonic TMEM133 NA synonymous SNV TMEM133:NM_032021:exon1:c.A57G:p.E19E exonic ENSG00000170647 NA synonymous SNV ENSG00000170647:ENST00000303130:exon1:c.A57G:p.E19E NA NA 11q22.1 NA NA NA NA rs515552 0.35 0.35 0.328 0.388179 0.2028 0.7579 0.3977 0.1248 0.547 0.21 0.74 0.33 0.13 0.3165 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.160766 NA NA 0.210233 0.134362 NA 0.275 NA 4.9371336 1166 5 423906 423906 G A intronic AHRR NA NA NA intronic ENSG00000063438 NA NA NA NA NA 5p15.33 NA Name=Egr-1 Name=15 NA rs55932239 0.19 0.19 0.147 0.153754 0.3986 0.004 0.2363 0.0113 0.1902 0.4 NA 0.27 0.01 0.2934 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.334547 NA NA 0.371013 0.071562 NA 0.167 NA 4.936987 1166 10 75148067 75148067 T C intronic ANXA7 NA NA NA intronic ENSG00000138279 NA NA NA Score=537;Name=lod=203 NA 10q22.2 NA NA NA NA rs138661113 0.01 0.01 0.008 0.00698882 0.0268 NA 0.0072 0.0008 0.002 0.03 NA 0.01 NA 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 1.517817 1.517817 NA 0.021628 0.005901 NA NA NA 4.936372 1166 4 77033531 77033531 G T intronic ART3 NA NA NA intronic ENSG00000156219 NA NA NA Score=355;Name=lod=37 NA 4q21.1 NA NA NA NA rs72655520 0.01 0.01 0.013 0.00858626 0.0288 NA 0.0187 NA 0.001 0.02 NA 0.03 NA 0.0144 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 -0.985901 NA NA 0.021047 0.004312 NA 0.014 NA 4.935753 1166 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 1166 1 180953853 180953853 A G exonic STX6 NA synonymous SNV STX6:NM_005819:exon7:c.T651C:p.N217N exonic ENSG00000135823 NA synonymous SNV ENSG00000135823:ENST00000542060:exon5:c.T348C:p.N116N,ENSG00000135823:ENST00000258301:exon7:c.T651C:p.N217N Score=632;Name=lod=494 NA 1q25.3 NA NA NA NA rs3747957 0.57 0.57 0.537 0.524361 0.5686 0.631 0.6282 0.4486 0.3978 0.58 0.64 0.62 0.46 0.5745 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.502177 1.502177 NA 0.588023 0.483432 NA 0.594 NA 4.9355436 1166 13 92346139 92346139 A G intronic GPC5 NA NA NA intronic ENSG00000179399 NA NA NA Score=399;Name=lod=56 NA 13q31.3 NA NA NA NA rs45444304 0.02 0.02 0.017 0.0201677 0.0239 NA 0.0173 0.0431 0.0082 0.02 NA 0.02 0.04 0.0194 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 0.645595 NA NA 0.021279 0.043123 NA 0.014 NA 4.935421 1166 3 178546026 178546026 T C exonic KCNMB2 NA synonymous SNV KCNMB2:NM_181361:exon4:c.T288C:p.N96N,KCNMB2:NM_005832:exon5:c.T288C:p.N96N exonic ENSG00000197584 NA synonymous SNV ENSG00000197584:ENST00000358316:exon3:c.T288C:p.N96N,ENSG00000197584:ENST00000432997:exon4:c.T288C:p.N96N,ENSG00000197584:ENST00000437510:exon4:c.T288C:p.N96N,ENSG00000197584:ENST00000452583:exon4:c.T288C:p.N96N,ENSG00000197584:ENST00000420517:exon5:c.T288C:p.N96N,ENSG00000197584:ENST00000455865:exon5:c.T288C:p.N96N Score=605;Name=lod=383 NA 3q26.32 NA NA NA NA rs9831934 0.56 0.56 0.585 0.582867 0.5825 0.2252 0.5245 0.9289 0.5256 0.57 0.25 0.52 0.95 0.563 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 1.169615 NA NA 0.58593 0.86995 NA 0.71 NA 4.9352366 1166 4 57889677 57889677 C T exonic POLR2B NA synonymous SNV POLR2B:NM_000938:exon19:c.C2697T:p.S899S exonic ENSG00000047315 NA synonymous SNV ENSG00000047315:ENST00000431623:exon18:c.C2472T:p.S824S,ENSG00000047315:ENST00000314595:exon19:c.C2697T:p.S899S,ENSG00000047315:ENST00000381227:exon20:c.C2697T:p.S899S,ENSG00000047315:ENST00000441246:exon20:c.C2676T:p.S892S Score=629;Name=lod=478 NA 4q12 NA NA NA NA rs1056364 0.6 0.6 0.589 0.551917 0.5845 0.6786 0.6412 0.4637 0.4438 0.58 0.69 0.6 0.52 0.572 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 1.210937 NA NA 0.575116 0.486382 ID=COSM1131099;OCCURENCE=1(prostate) 0.717 NA 4.9350506 1167 12 120934407 120934407 C T intronic DYNLL1 NA NA NA exonic ENSG00000088986 NA synonymous SNV ENSG00000088986:ENST00000550178:exon1:c.C183T:p.F61F,ENSG00000088986:ENST00000548214:exon2:c.C183T:p.F61F,ENSG00000088986:ENST00000550845:exon2:c.C183T:p.F61F NA NA 12q24.31 NA NA Name=114 NA rs1563333 0.32 0.32 0.261 0.303514 0.2773 0.495 0.2723 0.2194 0.2689 0.28 0.48 0.26 0.23 0.3118 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.265552 NA NA 0.309491 0.200045 NA 0.08 NA 4.9347423 1167 2 201437328 201437328 C A exonic SGOL2 NA synonymous SNV SGOL2:NM_001160033:exon7:c.C2259A:p.I753I,SGOL2:NM_001160046:exon7:c.C2259A:p.I753I,SGOL2:NM_152524:exon7:c.C2259A:p.I753I exonic ENSG00000163535 NA synonymous SNV ENSG00000163535:ENST00000357799:exon7:c.C2259A:p.I753I NA NA 2q33.1 NA NA NA NA rs35987478 0.23 0.23 0.201 0.211262 0.2535 0.2917 0.2017 0.1581 0.1636 0.25 0.29 0.24 0.13 0.2296 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.872832 NA NA 0.249139 0.136289 NA 0.196 NA 4.9344276 1167 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 1167 1 242045275 242045275 C T exonic EXO1 NA nonsynonymous SNV EXO1:NM_003686:exon12:c.C2167T:p.R723C,EXO1:NM_006027:exon12:c.C2167T:p.R723C,EXO1:NM_130398:exon14:c.C2167T:p.R723C exonic ENSG00000174371 NA nonsynonymous SNV ENSG00000174371:ENST00000348581:exon12:c.C2167T:p.R723C,ENSG00000174371:ENST00000518483:exon12:c.C2167T:p.R723C,ENSG00000174371:ENST00000366548:exon14:c.C2167T:p.R723C NA NA 1q43 NA NA NA NA rs1635498 0.92 0.92 0.909 0.915335 0.9672 0.869 0.9784 0.8714 0.9243 0.97 0.84 0.98 0.87 0.9564 0.98 0.23 T 0.85 P 0.34 B 0.131 N 1.000 P 0.69 N 1.35 T -0.976 T 0.000 T 0.078 0.752 7.986 1.84 0.315 0.872 5.135 0.752324 NA 0.22 0.97578 0.885559 NA 0.899 NA 4.9339534 1167 11 35327748 35327748 C T exonic SLC1A2 NA synonymous SNV SLC1A2:NM_004171:exon5:c.G603A:p.P201P,SLC1A2:NM_001195728:exon6:c.G576A:p.P192P,SLC1A2:NM_001252652:exon6:c.G576A:p.P192P exonic ENSG00000110436 NA synonymous SNV ENSG00000110436:ENST00000278379:exon5:c.G603A:p.P201P,ENSG00000110436:ENST00000449068:exon5:c.G591A:p.P197P,ENSG00000110436:ENST00000606205:exon5:c.G603A:p.P201P,ENSG00000110436:ENST00000395750:exon6:c.G576A:p.P192P,ENSG00000110436:ENST00000395753:exon6:c.G576A:p.P192P NA NA 11p13 NA NA NA NA rs752949 0.23 0.23 0.21 0.180511 0.2624 0.1905 0.2464 0.1415 0.092 0.27 0.24 0.25 0.15 0.2268 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.312055 NA NA 0.243718 0.140554 NA 0.138 NA 4.9337486 1167 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 1167 2 85625287 85625287 G C intronic CAPG NA NA NA intronic ENSG00000042493 NA NA NA NA NA 2p11.2 NA Name=GATA-2,GATA3_(SC-268),ZNF263 NA NA rs72831546 0.01 0.01 0.009 0.00878594 0.0288 0.001 0.0072 0.0008 0.0082 0.03 0.0017 0.01 0.0041 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 -0.201186 NA NA 0.022209 0.004085 NA 0.08 NA 4.933391 1167 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 1167 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 1167 17 80373452 80373452 C T exonic OGFOD3 NA synonymous SNV OGFOD3:NM_024648:exon2:c.G126A:p.P42P,OGFOD3:NM_175902:exon2:c.G126A:p.P42P exonic ENSG00000181396 NA synonymous SNV ENSG00000181396:ENST00000313056:exon2:c.G126A:p.P42P,ENSG00000181396:ENST00000329197:exon2:c.G126A:p.P42P,ENSG00000181396:ENST00000580445:exon2:c.G126A:p.P42P NA NA 17q25.3 NA NA NA NA rs4789769 0.36 0.36 0.36 0.327476 0.2515 0.6687 0.2464 0.2678 0.1922 0.24 0.69 0.27 0.22 0.2618 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 0.430403 NA NA 0.220581 0.266455 NA 0.232 NA 4.9327856 1167 7 105658521 105658521 G A intronic CDHR3 NA NA NA intronic ENSG00000128536 NA NA NA Score=403;Name=lod=58 NA 7q22.3 NA NA NA NA rs117797654 0.01 0.01 0.007 0.00658946 0.0199 NA 0.0086 0.0015 0.0051 0.02 NA 0.01 0.002 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 2.922839 2.922839 NA 0.030144 0.005762 NA NA NA 4.932756 1167 10 90490921 90490921 G A exonic LIPK NA synonymous SNV LIPK:NM_001080518:exon3:c.G405A:p.P135P exonic ENSG00000204021 NA synonymous SNV ENSG00000204021:ENST00000404190:exon3:c.G405A:p.P135P NA NA 10q23.31 NA NA NA NA rs412227 0.24 0.24 0.24 0.257188 0.2137 0.3462 0.2853 0.1899 0.2812 0.21 0.34 0.23 0.18 0.3053 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446797 NA NA 0.215129 0.191439 NA 0.152 NA 4.9325376 1167 21 44589215 44589215 C T exonic CRYAA NA synonymous SNV CRYAA:NM_000394:exon1:c.C6T:p.D2D exonic ENSG00000160202 NA synonymous SNV ENSG00000160202:ENST00000291554:exon1:c.C6T:p.D2D Score=558;Name=lod=246 NA 21q22.3 NA NA NA NA rs872331 0.53 0.53 0.518 0.5 0.5934 0.2192 0.5389 0.761 0.3129 0.58 0.2 0.61 0.75 0.5404 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 1.162724 NA NA 0.600581 0.727871 NA 0.638 NA 4.9322856 1167 1 209790707 209790707 C G intronic LAMB3 NA NA NA intronic ENSG00000196878 NA NA NA NA NA 1q32.2 NA NA Name=2 NA rs41274828 0.02 0.02 0.014 0.0101837 0.0278 NA 0.0216 0.0045 0.002 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 1.453637 1.453637 NA 0.024302 0.01044 NA 0.022 NA 4.931898 1167 17 1673104 1673104 G A intronic SERPINF1 NA NA NA intronic ENSG00000132386 NA NA NA NA NA 17p13.3 NA Name=ZNF263 Name=42 NA rs11658342 0.26 0.26 0.267 0.221845 0.3907 0.2381 0.2262 0.0855 0.2127 0.4 0.23 0.24 0.09 0.3065 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.642096 NA NA 0.371163 0.143668 NA 0.254 NA 4.931637 1167 19 9524185 9524185 A G exonic ZNF266 NA synonymous SNV ZNF266:NM_001271314:exon11:c.T1416C:p.A472A,ZNF266:NM_006631:exon11:c.T1416C:p.A472A exonic ENSG00000174652 NA synonymous SNV ENSG00000174652:ENST00000592904:exon5:c.T1416C:p.A472A,ENSG00000174652:ENST00000592292:exon8:c.T1416C:p.A472A,ENSG00000174652:ENST00000361151:exon9:c.T1416C:p.A472A,ENSG00000174652:ENST00000588221:exon9:c.T1416C:p.A472A,ENSG00000174652:ENST00000590306:exon10:c.T1416C:p.A472A,ENSG00000174652:ENST00000361451:exon11:c.T1416C:p.A472A,ENSG00000174652:ENST00000588933:exon11:c.T1416C:p.A472A NA NA 19p13.2 NA Name=SETDB1,ZNF274,KAP1 NA NA rs2241356 0.58 0.58 0.577 0.594249 0.5716 0.4613 0.5663 0.7466 0.5685 0.56 0.44 0.6 0.74 0.5731 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.369159 1.369159 0 0.590581 0.723332 ID=COSM148503;OCCURENCE=1(stomach) 0.696 NA 4.9313856 1167 5 169688155 169688155 G A intronic LCP2 NA NA NA intronic ENSG00000043462 NA NA NA NA NA 5q35.1 Score=806;Name=V$POU3F2_01 NA NA NA rs116736533 0.01 0.01 0.014 0.0203674 0.0199 NA 0.0187 0.0219 0.0409 0.02 NA 0.01 0.03 0.026 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 2.41275 2.41275 NA 0.022766 0.016442 NA 0.022 NA 4.931334 1167 5 180409595 180409595 A G intergenic BTNL8,BTNL3 dist=31689;dist=6250 NA NA ncRNA_exonic ENSG00000231228 NA NA NA Score=397;Name=lod=55 NA 5q35.3 NA NA Name=2 NA rs4397092 0.39 0.39 0.449 0.416134 0.33 0.1865 0.2277 0.7549 0.4172 0.35 0.21 0.27 0.76 0.3745 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 -0.973132 NA 1 0.364246 0.702872 NA 0.464 NA 4.931254 1167 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 1167 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 1167 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 1167 13 42803341 42803341 T C UTR3 DGKH NM_001204504:c.*54T>C,NM_152910:c.*54T>C,NM_178009:c.*17T>C,NM_001204505:c.*17T>C,NM_001204506:c.*17T>C NA NA UTR3 ENSG00000102780 ENST00000379274:c.*17T>C,ENST00000261491:c.*54T>C,ENST00000337343:c.*17T>C,ENST00000536612:c.*17T>C,ENST00000538674:c.*54T>C NA NA Score=387;Name=lod=50 NA 13q14.11 Score=902;Name=V$STAT5B_01 NA Name=4 NA rs545602 0.84 0.84 0.853 0.810304 0.8052 0.9732 0.7046 0.7973 0.7403 0.79 0.97 0.76 0.82 0.7898 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 0.488064 NA NA 0.808953 0.799365 NA 0.87 NA 4.9293804 1167 18 23873463 23873463 T C exonic TAF4B NA synonymous SNV TAF4B:NM_005640:exon9:c.T1800C:p.N600N exonic ENSG00000141384 NA synonymous SNV ENSG00000141384:ENST00000269142:exon9:c.T1800C:p.N600N,ENSG00000141384:ENST00000400466:exon9:c.T1800C:p.N600N,ENSG00000141384:ENST00000418698:exon9:c.T1800C:p.N600N,ENSG00000141384:ENST00000578121:exon9:c.T1815C:p.N605N Score=595;Name=lod=349 NA 18q11.2 NA NA NA NA rs1677016 0.53 0.53 0.487 0.507987 0.5696 0.7996 0.5461 0.093 0.6779 0.56 0.82 0.59 0.12 0.5906 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 0.966014 NA NA 0.577208 0.177871 NA 0.413 NA 4.9292586 1167 1 22927326 22927326 T G intronic EPHA8 NA NA NA intronic ENSG00000070886 NA NA NA NA NA 1p36.12 NA Name=USF-1,USF2 Name=5 NA rs209701 0.41 0.41 0.398 0.464058 0.3469 0.2708 0.4914 0.7383 0.3937 0.33 0.27 0.44 0.67 0.391 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 -0.609433 NA NA 0.33314 0.66818 NA 0.558 NA 4.92896 1167 17 18380135 18380135 C G UTR5 LGALS9C NM_001040078:c.-34C>G NA NA UTR5 ENSG00000171916 ENST00000581545:c.-34C>G,ENST00000577691:c.-34C>G,ENST00000582333:c.-34C>G,ENST00000328114:c.-34C>G,ENST00000412421:c.-9246C>G,ENST00000579773:c.-34C>G,ENST00000583322:c.-34C>G,ENST00000584941:c.-34C>G,ENST00000580674:c.-34C>G NA NA NA NA 17p11.2 NA NA Name=14 NA rs4924879 NA NA 0.211 NA NA NA NA NA NA NA NA NA NA 0.4044 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.495755 NA NA NA NA NA NA NA 4.9289334 1167 1 982994 982994 T C exonic AGRN NA synonymous SNV AGRN:NM_198576:exon21:c.T3558C:p.F1186F exonic ENSG00000188157 NA synonymous SNV ENSG00000188157:ENST00000379370:exon21:c.T3558C:p.F1186F Score=482;Name=lod=121 NA 1p36.33 NA NA NA NA rs10267 0.84 0.84 0.811 0.835863 0.9205 0.999 0.9035 0.5151 0.9663 0.92 0.99 0.91 0.49 0.8989 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 -0.475914 NA NA 0.918721 0.542215 NA 0.739 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116264.1;CLNDSDB=.;CLNDSDBID=. 4.9285456 1167 2 75882399 75882399 G A exonic MRPL19 NA synonymous SNV MRPL19:NM_014763:exon6:c.G867A:p.S289S exonic ENSG00000115364 NA synonymous SNV ENSG00000115364:ENST00000453233:exon2:c.G228A:p.S76S,ENSG00000115364:ENST00000393909:exon6:c.G867A:p.S289S,ENSG00000115364:ENST00000409374:exon6:c.G867A:p.S289S NA NA 2p12 NA NA NA NA rs17689863 0.17 0.17 0.124 0.176318 0.2435 0.1637 0.2305 0.0182 0.2955 0.24 0.17 0.23 0.02 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 -0.037666 NA NA 0.255517 0.047736 NA 0.232 NA 4.9281496 1167 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 1167 10 128974621 128974621 C T exonic FAM196A NA synonymous SNV FAM196A:NM_001039762:exon4:c.G39A:p.T13T exonic ENSG00000188916 NA synonymous SNV ENSG00000188916:ENST00000424811:exon2:c.G39A:p.T13T,ENSG00000188916:ENST00000522781:exon4:c.G39A:p.T13T NA NA 10q26.2 Score=744;Name=V$TCF11MAFG_01 NA NA NA rs2489386 0.56 0.56 0.547 0.528554 0.5875 0.7401 0.5634 0.2436 0.6104 0.6 0.73 0.54 0.31 0.5683 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 -0.567308 NA NA 0.582926 0.286428 NA 0.536 NA 4.9279406 1167 1 205744138 205744138 G T UTR5 RAB7L1 NM_001135663:c.-54C>A,NM_001135662:c.-54C>A,NM_003929:c.-54C>A NA NA UTR5 ENSG00000117280 ENST00000367139:c.-54C>A,ENST00000235932:c.-54C>A,ENST00000528078:c.-54C>A,ENST00000446390:c.-54C>A,ENST00000414729:c.-54C>A NA NA NA NA 1q32.1 NA Name=Pol2,Pol2-4H8,TBP NA NA rs708725 0.23 0.23 0.219 0.178914 0.4056 0.003 0.2565 0.1437 0.1196 0.41 0.0035 0.33 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 1.403544 1.403544 NA NA NA NA 0.355 NA 4.9277334 1167 3 52860936 52860936 C T exonic ITIH4 NA synonymous SNV ITIH4:NM_001166449:exon4:c.G390A:p.V130V,ITIH4:NM_002218:exon4:c.G390A:p.V130V exonic ENSG00000055955 NA synonymous SNV ENSG00000055955:ENST00000434759:exon3:c.G126A:p.V42V,ENSG00000055955:ENST00000266041:exon4:c.G390A:p.V130V,ENSG00000055955:ENST00000346281:exon4:c.G390A:p.V130V,ENSG00000055955:ENST00000406595:exon4:c.G390A:p.V130V,ENSG00000055955:ENST00000485816:exon4:c.G390A:p.V130V NA NA 3p21.1 NA NA NA NA rs2276817 0.29 0.29 0.272 0.245008 0.2584 0.3175 0.379 0.1989 0.1237 0.26 0.37 0.37 0.17 0.2476 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.947339 NA NA 0.233023 0.215161 NA 0.159 NA 4.9276436 1167 12 7803646 7803646 G A exonic APOBEC1 NA synonymous SNV APOBEC1:NM_001644:exon4:c.C534T:p.Y178Y exonic ENSG00000111701 NA synonymous SNV ENSG00000111701:ENST00000229304:exon4:c.C534T:p.Y178Y NA NA 12p13.31 NA NA NA NA rs10431309 0.23 0.23 0.222 0.242013 0.2594 0.2312 0.1916 0.1483 0.3978 0.25 0.26 0.23 0.15 0.2381 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.371862 NA NA 0.242093 0.14276 ID=COSM147408;OCCURENCE=1(stomach),1(large_intestine) 0.225 NA 4.9270736 1167 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 1167 8 11705139 11705139 C T intronic CTSB NA NA NA intronic ENSG00000164733 NA NA NA NA NA 8p23.1 NA Name=Pol2-4H8,Pol2(b) Name=11 NA rs2294138 0.37 0.37 0.37 0.366014 0.3658 0.496 0.3573 0.2368 0.4131 0.37 0.48 0.36 0.25 0.3557 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419153 NA NA 0.351744 0.258738 NA 0.312 NA 4.926756 1167 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 1167 10 50121425 50121425 G C intronic LRRC18,WDFY4 NA NA NA ncRNA_UTR3 ENSG00000165383 NA NA NA Score=452;Name=lod=92 NA 10q11.23 NA NA NA NA rs12774010 0.11 0.11 0.119 0.123203 0.1441 0.002 0.0965 0.1823 0.1656 0.15 0.0017 0.12 0.19 0.1234 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 0.508077 NA NA 0.139767 0.17113 NA 0.167 NA 4.9260663 1167 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 1168 1 237058828 237058828 C T exonic MTR NA synonymous SNV MTR:NM_000254:exon31:c.C3576T:p.L1192L exonic ENSG00000116984 NA synonymous SNV ENSG00000116984:ENST00000366576:exon18:c.C2238T:p.L746L,ENSG00000116984:ENST00000535889:exon30:c.C3423T:p.L1141L,ENSG00000116984:ENST00000366577:exon31:c.C3576T:p.L1192L NA NA 1q43 NA NA Name=2 NA rs1131449 0.54 0.54 0.549 0.529153 0.5358 0.5198 0.5922 0.4342 0.6155 0.53 0.57 0.57 0.51 0.6193 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444449 NA NA 0.587043 0.466136 ID=COSM425684;OCCURENCE=1(breast) 0.464 NA 4.9245236 1168 21 44838081 44838081 A G intronic SIK1 NA NA NA intronic ENSG00000142178 NA NA NA NA NA 21q22.3 NA Name=Pol2(b) NA NA rs2838301 0.09 0.09 0.091 0.0970447 0.0755 0.003 0.0418 0.2171 0.093 0.08 0.0017 0.05 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 0.38286 NA NA NA NA NA 0.123 NA 4.9245 1168 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 1168 1 209933540 209933540 A G exonic TRAF3IP3 NA synonymous SNV TRAF3IP3:NM_025228:exon3:c.A156G:p.Q52Q exonic ENSG00000009790 NA synonymous SNV ENSG00000009790:ENST00000010338:exon1:c.A156G:p.Q52Q,ENSG00000009790:ENST00000367024:exon3:c.A156G:p.Q52Q,ENSG00000009790:ENST00000367025:exon3:c.A156G:p.Q52Q,ENSG00000009790:ENST00000367026:exon3:c.A156G:p.Q52Q,ENSG00000009790:ENST00000400959:exon3:c.A156G:p.Q52Q,ENSG00000009790:ENST00000478359:exon3:c.A156G:p.Q52Q NA NA 1q32.2 NA NA NA NA rs2076150 0.33 0.33 0.339 0.373003 0.2386 0.2133 0.2795 0.7436 0.2413 0.24 0.2 0.25 0.7 0.281 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 0.841794 NA NA 0.222791 0.680436 NA 0.428 NA 4.9242756 1168 6 30954873 30954873 G A exonic MUC21 NA synonymous SNV MUC21:NM_001010909:exon2:c.G921A:p.T307T exonic ENSG00000204544 NA synonymous SNV ENSG00000204544:ENST00000376296:exon2:c.G921A:p.T307T NA NA 6p21.33 NA NA NA NA rs1625781 0.17 0.17 0.153 0.141174 0.2386 0.0427 0.2594 0.1059 0.1063 0.25 0.05 0.28 0.12 0.2236 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.009522 NA NA 0.280349 0.156151 NA 0.116 NA 4.9241176 1168 17 59760996 59760996 A G exonic BRIP1 NA synonymous SNV BRIP1:NM_032043:exon20:c.T3411C:p.Y1137Y exonic ENSG00000136492 NA synonymous SNV ENSG00000136492:ENST00000259008:exon20:c.T3411C:p.Y1137Y Score=504;Name=lod=149 NA 17q23.2 NA NA NA NA rs4986763 0.67 0.67 0.639 0.620807 0.5616 0.754 0.7305 0.6641 0.408 0.55 0.78 0.72 0.68 0.5941 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 0.677944 NA NA 0.58686 0.643506 NA 0.696 NA 4.9241066 1168 8 52366200 52366200 G A exonic PXDNL NA synonymous SNV PXDNL:NM_144651:exon10:c.C1128T:p.H376H exonic ENSG00000147485 NA synonymous SNV ENSG00000147485:ENST00000356297:exon10:c.C1128T:p.H376H,ENSG00000147485:ENST00000543296:exon10:c.C1128T:p.H376H Score=259;Name=lod=15 NA 8q11.22 NA Name=AP-2gamma NA NA rs6473599 0.75 0.75 0.719 0.746006 0.9274 0.6915 0.9193 0.4841 0.8466 0.93 0.68 0.9 0.43 0.8745 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 -0.349752 NA NA 0.94089 0.592717 NA 0.768 NA 4.9238766 1168 12 49298059 49298059 G A UTR5 CCDC65 NM_033124:c.-61G>A NA NA UTR5 ENSG00000139537 ENST00000266984:c.-61G>A,ENST00000552942:c.-61G>A,ENST00000547861:c.-61G>A,ENST00000320516:c.-61G>A NA NA NA NA 12q13.12 NA Name=NFKB NA NA rs3809147 0.36 0.36 0.328 0.308307 0.4095 0.4454 0.4942 0.1014 0.2106 0.4 0.47 0.44 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 0.864761 NA NA NA NA NA 0.232 NA 4.9238334 1168 11 126201403 126201403 T C exonic DCPS NA synonymous SNV DCPS:NM_014026:exon3:c.T480C:p.N160N exonic ENSG00000110063 NA synonymous SNV ENSG00000110063:ENST00000263579:exon3:c.T480C:p.N160N NA NA 11q24.2 NA NA NA NA rs616360 0.23 0.23 0.207 0.23103 0.2465 0.2054 0.2695 0.2171 0.2331 0.27 0.18 0.28 0.19 0.2418 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42406 NA NA 0.254653 0.222626 NA 0.21 NA 4.9237136 1168 20 371972 371972 T C exonic TRIB3 NA synonymous SNV TRIB3:NM_021158:exon3:c.T333C:p.Y111Y exonic ENSG00000101255 NA synonymous SNV ENSG00000101255:ENST00000217233:exon3:c.T333C:p.Y111Y,ENSG00000101255:ENST00000449710:exon3:c.T333C:p.Y111Y,ENSG00000101255:ENST00000422053:exon4:c.T414C:p.Y138Y NA NA 20p13 NA NA Name=8 NA rs6051637 0.66 0.66 0.708 0.718251 0.5447 0.7212 0.4957 0.8729 0.8425 0.53 0.76 0.53 0.86 0.6356 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 -1.07233 NA NA 0.562674 0.8194 ID=COSM443798;OCCURENCE=1(breast),1(large_intestine) 0.587 NA 4.9236926 1168 9 132585058 132585058 G A exonic TOR1A NA synonymous SNV TOR1A:NM_000113:exon2:c.C246T:p.A82A exonic ENSG00000136827 NA synonymous SNV ENSG00000136827:ENST00000351698:exon2:c.C246T:p.A82A NA NA 9q34.11 NA NA NA NA rs2296793 0.24 0.24 0.252 0.226238 0.2753 0.2133 0.2118 0.2179 0.2106 0.28 0.22 0.23 0.19 0.2275 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980434 NA NA 0.240233 0.222651 ID=COSM150726;OCCURENCE=1(stomach) 0.145 NA 4.9236336 1168 9 421032 421032 C G exonic DOCK8 NA synonymous SNV DOCK8:NM_001190458:exon30:c.C3807G:p.L1269L,DOCK8:NM_001193536:exon31:c.C3903G:p.L1301L,DOCK8:NM_203447:exon32:c.C4107G:p.L1369L exonic ENSG00000107099 NA synonymous SNV ENSG00000107099:ENST00000382329:exon19:c.C2508G:p.L836L,ENSG00000107099:ENST00000469391:exon30:c.C3807G:p.L1269L,ENSG00000107099:ENST00000432829:exon32:c.C3903G:p.L1301L,ENSG00000107099:ENST00000453981:exon32:c.C4107G:p.L1369L Score=536;Name=lod=202 NA 9p24.3 NA NA NA NA rs2297079 0.44 0.44 0.434 0.391773 0.6203 0.499 0.4352 0.0809 0.4356 0.62 0.48 0.47 0.11 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 1.167264 NA NA 0.613372 0.168407 NA 0.442 NA 4.9235946 1168 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 1168 3 188327461 188327461 C T exonic LPP NA synonymous SNV LPP:NM_001167671:exon6:c.C942T:p.D314D,LPP:NM_005578:exon6:c.C942T:p.D314D exonic ENSG00000145012 NA synonymous SNV ENSG00000145012:ENST00000415906:exon1:c.C453T:p.D151D,ENSG00000145012:ENST00000312675:exon6:c.C942T:p.D314D,ENSG00000145012:ENST00000448637:exon6:c.C942T:p.D314D,ENSG00000145012:ENST00000543006:exon6:c.C942T:p.D314D Score=300;Name=lod=22 NA 3q28 NA NA NA NA rs1059380 0.56 0.56 0.565 0.586462 0.5726 0.4355 0.5591 0.7322 0.5787 0.58 0.43 0.53 0.69 0.5843 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 0.402291 NA NA 0.586977 0.699501 NA 0.594 NA 4.9227896 1168 16 419092 419092 A G exonic MRPL28 NA synonymous SNV MRPL28:NM_006428:exon3:c.T417C:p.Y139Y exonic ENSG00000086504 NA synonymous SNV ENSG00000086504:ENST00000199706:exon3:c.T417C:p.Y139Y,ENSG00000086504:ENST00000389675:exon3:c.T417C:p.Y139Y,ENSG00000086504:ENST00000441883:exon3:c.T417C:p.Y139Y,ENSG00000086504:ENST00000447696:exon3:c.T417C:p.Y139Y,ENSG00000086504:ENST00000450882:exon3:c.T417C:p.Y139Y Score=565;Name=lod=264 NA 16p13.3 NA NA NA NA rs3830160 0.63 0.63 0.606 0.68131 0.5487 0.5317 0.6383 0.8858 0.726 0.55 0.51 0.62 0.88 0.6166 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 -0.848425 NA NA 0.579302 0.842488 NA 0.558 NA 4.9220646 1168 3 38793989 38793989 G A exonic SCN10A NA synonymous SNV SCN10A:NM_006514:exon11:c.C1476T:p.L492L exonic ENSG00000185313 NA synonymous SNV ENSG00000185313:ENST00000449082:exon11:c.C1476T:p.L492L NA NA 3p22.2 NA NA NA NA rs7617919 0.23 0.23 0.222 0.207668 0.2495 0.373 0.1052 0.0787 0.2413 0.25 0.4 0.12 0.07 0.243 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469972 NA NA 0.252268 0.1069 NA 0.174 NA 4.9218986 1168 19 52090100 52090100 T C exonic ZNF175 NA synonymous SNV ZNF175:NM_007147:exon5:c.T516C:p.N172N exonic ENSG00000105497 NA synonymous SNV ENSG00000105497:ENST00000262259:exon5:c.T516C:p.N172N NA NA 19q13.41 NA NA NA NA rs45541134 0.15 0.15 0.136 0.145168 0.2684 0.0238 0.1686 0.0991 0.1892 0.26 0.01 0.2 0.1 0.2046 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.276612 NA NA 0.271977 0.105311 NA 0.239 NA 4.9216896 1168 X 149826503 149826503 G A intronic MTM1 NA NA NA intronic ENSG00000171100 NA NA NA Score=541;Name=lod=211 NA Xq28 NA NA NA NA rs222410 0.58 0.58 0.58585 NA NA NA NA NA NA 0.54 0.29 0.63 0.92 0.5797 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 1.198896 NA NA 0.498662 0.883442 NA 0.493 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078428.1;CLNDSDB=.;CLNDSDBID=. 4.921638 1168 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 1168 17 25308788 25308788 C T intergenic NONE,MIR4522 dist=NONE;dist=312148 NA NA ncRNA_exonic ENSG00000263433 NA NA NA Score=733;Name=lod=1275 NA 17q11.1 NA NA NA NA rs62058918 0.04 0.04 0.029 0.0303514 0.0785 0.001 0.049 0.0061 0.0307 0.09 0.0017 0.07 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 0.507315 NA NA NA NA NA 0.058 NA 4.9215 1168 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 1168 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 1168 6 44217910 44217910 A G intronic HSP90AB1 NA NA NA intronic ENSG00000096384 NA NA NA NA NA 6p21.1 NA NA Name=3 NA rs9369468 0.01 0.01 0.01 0.00838658 0.0308 NA 0.0086 0.0008 0.0041 0.03 NA 0.02 NA 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 -0.371701 NA NA 0.030233 0.006128 NA 0.058 NA 4.921067 1168 12 94975799 94975799 G A exonic TMCC3 NA synonymous SNV TMCC3:NM_020698:exon2:c.C594T:p.F198F exonic ENSG00000057704 NA synonymous SNV ENSG00000057704:ENST00000261226:exon2:c.C594T:p.F198F,ENSG00000057704:ENST00000551457:exon2:c.C501T:p.F167F Score=630;Name=lod=484 NA 12q22 NA NA NA NA rs3747553 0.65 0.65 0.671 0.687101 0.5746 0.5972 0.5965 0.8979 0.6748 0.56 0.6 0.61 0.89 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 -0.329015 NA NA 0.559651 0.838856 NA 0.601 NA 4.9210156 1168 17 44833217 44833217 C A UTR3 NSF NM_006178:c.*28C>A NA NA UTR3 ENSG00000073969 ENST00000398238:c.*28C>A,ENST00000225282:c.*50C>A,ENST00000575068:c.*28C>A NA NA Score=383;Name=lod=48 NA 17q21.31 NA NA NA NA rs35732828 0.07 0.07 0.052 0.0533147 0.165 NA 0.049 0.0038 0.0634 0.18 NA 0.06 0.01 0.1103 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.786634 NA NA 0.137797 0.031447 NA 0.08 NA 4.9202364 1168 18 59770033 59770033 C T exonic PIGN NA synonymous SNV PIGN:NM_012327:exon20:c.G1962A:p.L654L,PIGN:NM_176787:exon21:c.G1962A:p.L654L exonic ENSG00000197563 NA synonymous SNV ENSG00000197563:ENST00000400334:exon20:c.G1962A:p.L654L,ENSG00000197563:ENST00000357637:exon21:c.G1962A:p.L654L NA NA 18q21.33 NA NA NA NA rs12326381 0.12 0.12 0.121 0.0954473 0.2684 0.0069 0.1239 0.0144 0.0982 0.26 0.0035 0.14 0.02 0.2338 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.239138 NA NA 0.244249 0.057158 NA 0.145 NA 4.9202176 1168 17 34842521 34842521 A G UTR5 ZNHIT3 NM_004773:c.-23A>G NA NA UTR5 ENSG00000108278 ENST00000490126:c.-8599A>G,ENST00000225410:c.-23A>G NA NA NA NA 17q12 NA Name=TAF1,RFX5_(N-494),NFKB,IRF4_(M-17),GABP,Pol2-4H8,ELF1_(SC-631),NF-YA,HEY1,KAP1,ETS1,GATA-1,Pol2,Pol2(phosphoS2),USF-1,USF1_(SC-8983),HA-E2F1,E2F6,E2F6_(H-50),TR4,CCNT2,TBP,CEBPB,c-Fos,NF-YB,WHIP,YY1,GTF2F1_(RAP-74),Max,YY1_(C-20),c-Myc,Nrf1,SP1,SRF,Sin3Ak-20,eGFP-JunD,NRSF,Mxi1_(bHLH),PAX5-C20 Name=148 NA rs4796224 0.49 0.49 0.435 0.508586 0.4503 0.4534 0.562 0.5552 0.5245 0.46 0.45 0.54 0.53 0.4999 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.446045 NA NA 0.463372 0.52837 NA 0.283 NA 4.9197614 1168 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 1168 16 1538433 1538433 A G exonic PTX4 NA synonymous SNV PTX4:NM_001013658:exon1:c.T36C:p.P12P exonic ENSG00000251692 NA synonymous SNV ENSG00000251692:ENST00000293922:exon1:c.T36C:p.P12P NA NA 16p13.3 NA NA NA NA rs2745102 0.3 0.3 0.302 0.270567 0.2445 0.499 0.196 0.1694 0.2515 0.26 0.54 0.19 0.14 0.2485 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1358 NA NA 0.25407 0.162574 NA 0.355 NA 4.9195966 1168 17 5072316 5072316 C T exonic USP6 NA synonymous SNV USP6:NM_004505:exon27:c.C3483T:p.S1161S exonic ENSG00000129204 NA synonymous SNV ENSG00000129204:ENST00000250066:exon27:c.C3483T:p.S1161S,ENSG00000129204:ENST00000304328:exon28:c.C2532T:p.S844S,ENSG00000129204:ENST00000574788:exon35:c.C3483T:p.S1161S Score=333;Name=lod=30 NA 17p13.2 NA NA NA NA rs11658877 0.4 0.4 0.329 0.321086 0.6024 0.1706 0.5994 0.1369 0.2382 0.61 0.17 0.62 0.16 0.509 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608136 NA NA 0.636279 0.236723 NA 0.268 NA 4.9189876 1168 1 146672906 146672906 C T exonic FMO5 NA synonymous SNV FMO5:NM_001144829:exon7:c.G1011A:p.P337P,FMO5:NM_001461:exon7:c.G1011A:p.P337P exonic ENSG00000131781 NA synonymous SNV ENSG00000131781:ENST00000254090:exon7:c.G1011A:p.P337P,ENSG00000131781:ENST00000441068:exon7:c.G1011A:p.P337P Score=640;Name=lod=531 NA 1q21.1 Score=806;Name=V$IRF7_01 NA NA NA rs894469 0.92 0.92 0.914 0.895767 0.9085 0.9871 0.9467 0.8253 0.8476 0.91 1 0.94 0.83 0.9209 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.471418 NA NA 0.918488 0.849069 NA 0.819 NA 4.9187786 1168 21 43531008 43531008 T C exonic UMODL1 NA nonsynonymous SNV UMODL1:NM_001004416:exon11:c.T1676C:p.M559T,UMODL1:NM_001199527:exon11:c.T1460C:p.M487T,UMODL1:NM_001199528:exon11:c.T1460C:p.M487T,UMODL1:NM_173568:exon11:c.T1676C:p.M559T exonic ENSG00000177398 NA nonsynonymous SNV ENSG00000177398:ENST00000400424:exon11:c.T1460C:p.M487T,ENSG00000177398:ENST00000400427:exon11:c.T1460C:p.M487T,ENSG00000177398:ENST00000408910:exon11:c.T1676C:p.M559T,ENSG00000177398:ENST00000408989:exon11:c.T1676C:p.M559T NA NA 21q22.3 NA NA NA NA rs220126 0.78 0.78 0.744 0.768171 0.8042 0.8909 0.8516 0.5817 0.7975 0.82 0.88 0.83 0.58 0.8117 0.88 1 T 0.0 B 0.0 B 0.424 N 1.000 P -1.1 N -0.44 T -0.966 T 0.000 T 0.061 -2.143 0.005 1.88 0.188 -0.208 6.416 -2.142517 NA 0.23 0.799144 0.664327 NA 0.775 NA 4.9182894 1168 10 114200355 114200355 G A exonic ZDHHC6 NA synonymous SNV ZDHHC6:NM_022494:exon5:c.C618T:p.T206T exonic ENSG00000023041 NA synonymous SNV ENSG00000023041:ENST00000369404:exon5:c.C606T:p.T202T,ENSG00000023041:ENST00000369405:exon5:c.C618T:p.T206T Score=646;Name=lod=564 NA 10q25.2 NA NA NA NA rs2306159 0.49 0.49 0.487 0.513978 0.6014 0.4802 0.5677 0.3684 0.6176 0.59 0.46 0.55 0.34 0.5671 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.281058 1.281058 NA 0.580116 0.379709 NA 0.478 NA 4.9180506 1168 12 31282784 31282784 A G intergenic DDX11,FAM60A dist=25059;dist=150736 NA NA ncRNA_exonic ENSG00000177359 NA NA NA Score=437;Name=lod=80 NA 12p11.21 NA Name=PU.1 NA NA rs35666624 0.51 0.51 0.44 0.508586 0.5755 0.6349 0.6196 0.2761 0.545 0.55 0.64 0.55 0.26 0.5065 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224389 NA NA NA NA NA 0.312 NA 4.918 1168 22 36661566 36661566 G A exonic APOL1 NA nonsynonymous SNV APOL1:NM_001136541:exon5:c.G630A:p.M210I,APOL1:NM_001136540:exon6:c.G684A:p.M228I,APOL1:NM_003661:exon6:c.G684A:p.M228I,APOL1:NM_145343:exon7:c.G732A:p.M244I exonic ENSG00000100342 NA nonsynonymous SNV ENSG00000100342:ENST00000347595:exon3:c.G321A:p.M107I,ENSG00000100342:ENST00000426053:exon5:c.G630A:p.M210I,ENSG00000100342:ENST00000397278:exon6:c.G684A:p.M228I,ENSG00000100342:ENST00000397279:exon6:c.G684A:p.M228I,ENSG00000100342:ENST00000422706:exon6:c.G684A:p.M228I,ENSG00000100342:ENST00000319136:exon7:c.G732A:p.M244I NA NA 22q12.3 NA NA NA NA rs136175 0.84 0.84 0.833 0.864217 0.7813 0.7976 0.8862 0.9781 0.8487 0.78 0.81 0.86 0.95 0.8364 0.95 0.27 T 0.001 B 0.0 B 0.053 N 1.000 P -0.11 N 4.1 T -1.065 T 0.000 T 0.118 0.82 8.3 -0.358 0.151 0.250 2.403 0.819697 NA 0.26 0.797791 0.942805 NA 0.935 NA 4.9178424 1168 22 50705059 50705059 A G intronic MAPK11 NA NA NA exonic ENSG00000185386 NA nonsynonymous SNV ENSG00000185386:ENST00000449719:exon6:c.T590C:p.V197A NA NA 22q13.33 NA NA NA NA rs742185 0.7 0.7 0.694 0.691094 0.7465 0.5774 0.7565 0.7057 0.6851 0.75 0.59 0.81 0.67 0.7404 0.81 0 D 0.0 B 0.0 B . . 1.000 P . . -0.86 T -0.965 T 0.000 T 0.017 -1.028 0.221 -1.92 -0.679 0.331 7.622 -1.028489 NA NA 0.761977 0.721692 NA 0.746 NA 4.9177897 1168 3 38768247 38768247 G A exonic SCN10A NA synonymous SNV SCN10A:NM_006514:exon16:c.C2937T:p.G979G exonic ENSG00000185313 NA synonymous SNV ENSG00000185313:ENST00000449082:exon16:c.C2937T:p.G979G NA NA 3p22.2 NA NA NA NA rs59468016 0.22 0.22 0.199 0.190495 0.2525 0.373 0.1081 0.0151 0.2342 0.25 0.4 0.12 0.02 0.235 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.920806 NA NA 0.261395 0.05084 NA 0.145 NA 4.9177716 1168 17 5085893 5085893 C T exonic ZNF594 NA synonymous SNV ZNF594:NM_032530:exon2:c.G1659A:p.E553E exonic ENSG00000180626 NA synonymous SNV ENSG00000180626:ENST00000399604:exon1:c.G1659A:p.E553E,ENSG00000180626:ENST00000575779:exon2:c.G1659A:p.E553E NA NA 17p13.2 NA Name=SETDB1 NA NA rs4115657 0.38 0.38 0.338 0.322085 0.6034 0.1746 0.5994 0.1369 0.2382 0.59 0.16 0.6 0.15 0.5052 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889274 NA NA 0.640422 0.260089 NA 0.442 NA 4.9176446 1168 6 42689755 42689755 A G exonic PRPH2 NA synonymous SNV PRPH2:NM_000322:exon1:c.T318C:p.V106V exonic ENSG00000112619 NA synonymous SNV ENSG00000112619:ENST00000230381:exon1:c.T318C:p.V106V NA NA 6p21.1 NA NA NA NA rs7764439 0.58 0.58 0.572 0.584465 0.5885 0.5595 0.585 0.6596 0.5041 0.57 0.52 0.57 0.65 0.5775 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.28768 NA NA 0.58314 0.652973 NA 0.667 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000078642.1|RCV000127753.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.9175266 1168 3 38763863 38763863 G C exonic SCN10A NA synonymous SNV SCN10A:NM_006514:exon19:c.C3393G:p.T1131T exonic ENSG00000185313 NA synonymous SNV ENSG00000185313:ENST00000449082:exon19:c.C3393G:p.T1131T NA NA 3p22.2 NA NA NA NA rs6771157 0.24 0.24 0.227 0.219649 0.2465 0.376 0.121 0.121 0.2342 0.24 0.41 0.13 0.11 0.243 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37704 NA NA 0.260233 0.142079 NA 0.159 NA 4.9169336 1168 5 150578574 150578574 A G exonic CCDC69 NA synonymous SNV CCDC69:NM_015621:exon4:c.T303C:p.N101N exonic ENSG00000198624 NA synonymous SNV ENSG00000198624:ENST00000355417:exon4:c.T303C:p.N101N NA NA 5q33.1 NA NA NA NA rs3734038 0.2 0.2 0.167 0.215056 0.2535 0.1954 0.3718 0.0189 0.3497 0.24 0.23 0.33 0.02 0.2589 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.0829 NA NA 0.237442 0.064911 NA 0.239 NA 4.9168246 1168 1 247875608 247875608 C G exonic OR6F1 NA synonymous SNV OR6F1:NM_001005286:exon1:c.G450C:p.V150V exonic ENSG00000169214 NA synonymous SNV ENSG00000169214:ENST00000302084:exon1:c.G450C:p.V150V NA NA 1q44 NA NA NA NA rs6587382 0.31 0.31 0.308 0.326278 0.2316 0.2232 0.2118 0.6067 0.2321 0.23 0.2 0.25 0.6 0.2624 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.496396 NA NA 0.256047 0.534952 ID=COSM146850;OCCURENCE=1(stomach),1(prostate) 0.391 NA 4.9166196 1168 9 2717922 2717922 C G exonic KCNV2 NA synonymous SNV KCNV2:NM_133497:exon1:c.C183G:p.G61G exonic ENSG00000168263 NA synonymous SNV ENSG00000168263:ENST00000382082:exon1:c.C183G:p.G61G NA NA 9p24.2 NA NA NA NA rs10967705 0.66 0.66 0.639 0.660343 0.5746 0.7728 0.7435 0.6346 0.6084 0.57 0.79 0.72 0.59 0.6116 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 -1.628244 NA NA 0.563953 0.634816 NA 0.71 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082506.1;CLNDSDB=.;CLNDSDBID=. 4.9165136 1168 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 1168 21 40584598 40584598 C T exonic BRWD1 NA synonymous SNV BRWD1:NM_018963:exon34:c.G3894A:p.R1298R,BRWD1:NM_033656:exon34:c.G3894A:p.R1298R exonic ENSG00000185658 NA synonymous SNV ENSG00000185658:ENST00000333229:exon34:c.G3894A:p.R1298R,ENSG00000185658:ENST00000342449:exon34:c.G3894A:p.R1298R,ENSG00000185658:ENST00000380800:exon34:c.G3894A:p.R1298R Score=527;Name=lod=185 NA 21q22.2 NA NA NA NA rs6517529 0.85 0.85 0.819 0.851637 0.9195 0.6091 0.9294 0.972 0.8139 0.92 0.59 0.94 0.96 0.8967 0.97 . . . . . . . . 0.000 P . . . . -1.006 T 0.000 T . 0.84 8.394 -1.27 -0.704 -0.167 10.703 0.840296 NA NA 0.934241 0.970041 NA 0.826 NA 4.9162256 1168 8 33416222 33416222 C T exonic RNF122 NA synonymous SNV RNF122:NM_024787:exon2:c.G93A:p.Q31Q exonic ENSG00000133874 NA synonymous SNV ENSG00000133874:ENST00000256257:exon2:c.G93A:p.Q31Q Score=514;Name=lod=163 NA 8p12 NA NA NA NA rs3735951 0.62 0.62 0.63 0.610423 0.5855 0.499 0.5029 0.8548 0.4969 0.58 0.52 0.53 0.87 0.5717 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 1.023156 NA NA 0.593488 0.80867 NA 0.645 NA 4.9159786 1168 18 60562298 60562298 A T exonic PHLPP1 NA synonymous SNV PHLPP1:NM_194449:exon5:c.A2121T:p.P707P exonic ENSG00000081913 NA synonymous SNV ENSG00000081913:ENST00000262719:exon5:c.A2121T:p.P707P,ENSG00000081913:ENST00000400316:exon5:c.A585T:p.P195P NA NA 18q21.33 Score=835;Name=V$NFKB_Q6 NA NA NA rs624821 0.5 0.5 0.461 0.486222 0.5815 0.3621 0.5389 0.5234 0.4284 0.58 0.39 0.53 0.47 0.5547 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.644045 1.644045 NA 0.615011 0.526805 NA 0.5 NA 4.9154556 1168 16 84808824 84808824 C G exonic USP10 NA synonymous SNV USP10:NM_005153:exon13:c.C2202G:p.L734L,USP10:NM_001272075:exon14:c.C2214G:p.L738L exonic ENSG00000103194 NA synonymous SNV ENSG00000103194:ENST00000569925:exon2:c.C153G:p.L51L,ENSG00000103194:ENST00000219473:exon13:c.C2202G:p.L734L,ENSG00000103194:ENST00000570191:exon14:c.C2214G:p.L738L Score=616;Name=lod=424 NA 16q24.1 NA NA NA NA rs774298 NA NA 0.47 0.435104 0.6163 0.506 0.3818 0.3079 0.3855 NA NA NA NA 0.522 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.0202 NA NA 0.612986 0.336329 ID=COSM148135;OCCURENCE=1(stomach) 0.565 NA 4.9153806 1168 15 31362352 31362352 C T exonic TRPM1 NA nonsynonymous SNV TRPM1:NM_001252020:exon3:c.G212A:p.S71N,TRPM1:NM_001252030:exon3:c.G95A:p.S32N,TRPM1:NM_002420:exon3:c.G95A:p.S32N,TRPM1:NM_001252024:exon4:c.G161A:p.S54N exonic ENSG00000134160 NA nonsynonymous SNV ENSG00000134160:ENST00000397795:exon3:c.G95A:p.S32N,ENSG00000134160:ENST00000542188:exon3:c.G212A:p.S71N,ENSG00000134160:ENST00000558445:exon3:c.G95A:p.S32N,ENSG00000134160:ENST00000559177:exon3:c.G95A:p.S32N,ENSG00000134160:ENST00000559179:exon3:c.G95A:p.S32N,ENSG00000134160:ENST00000560658:exon3:c.G95A:p.S32N,ENSG00000134160:ENST00000256552:exon4:c.G161A:p.S54N NA NA 15q13.3 NA NA NA NA rs2241493 0.83 0.83 0.808 0.790935 0.8082 0.9296 0.8905 0.7405 0.6278 0.81 0.92 0.86 0.74 0.7991 0.92 0.51 T 0.0 B 0.001 B 0.685 N 1.000 P -1.15 N 0.12 T -0.996 T 0.000 T 0.007 0.531 6.876 -1.73 -0.929 -0.595 9.958 0.530991 NA 0.65 0.810821 0.754413 NA 0.775 NA 4.9152124 1168 10 126714641 126714641 G C intronic CTBP2 NA NA NA intronic ENSG00000175029 NA NA NA NA NA 10q26.13 NA NA Name=7 NA rs12571821 0.03 0.03 0.03 0.029353 0.0189 0.0446 0.0461 0.003 0.0481 0.02 0.05 0.03 0.0041 0.0331 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 1.765716 1.765716 NA 0.032791 0.00522 NA 0.007 NA 4.915209 1168 15 75131959 75131959 A G exonic ULK3 NA synonymous SNV ULK3:NM_001099436:exon7:c.T792C:p.F264F exonic ENSG00000140474 NA synonymous SNV ENSG00000140474:ENST00000440863:exon7:c.T792C:p.F264F,ENSG00000140474:ENST00000568667:exon7:c.T825C:p.F275F,ENSG00000140474:ENST00000569437:exon7:c.T792C:p.F264F Score=486;Name=lod=126 NA 15q24.1 NA NA NA NA rs936227 0.47 0.47 0.425 0.459465 0.5825 0.3383 0.5519 0.3533 0.5358 0.58 0.34 0.56 0.38 0.562 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.555706 1.555706 NA 0.607108 0.408126 NA 0.529 NA 4.9150586 1169 12 57859431 57859431 G A exonic GLI1 NA synonymous SNV GLI1:NM_001160045:exon4:c.G192A:p.E64E,GLI1:NM_001167609:exon5:c.G453A:p.E151E,GLI1:NM_005269:exon6:c.G576A:p.E192E exonic ENSG00000111087 NA synonymous SNV ENSG00000111087:ENST00000528467:exon4:c.G453A:p.E151E,ENSG00000111087:ENST00000532291:exon4:c.G192A:p.E64E,ENSG00000111087:ENST00000543426:exon4:c.G192A:p.E64E,ENSG00000111087:ENST00000546141:exon5:c.G453A:p.E151E,ENSG00000111087:ENST00000228682:exon6:c.G576A:p.E192E Score=506;Name=lod=152 NA 12q13.3 NA NA NA NA rs2228225 0.42 0.42 0.422 0.363019 0.6233 0.3046 0.3934 0.1611 0.407 0.62 0.33 0.44 0.19 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 0.380912 NA NA 0.628605 0.241943 NA 0.435 NA 4.9148616 1169 1 12164437 12164437 C T exonic TNFRSF8 NA synonymous SNV TNFRSF8:NM_001243:exon4:c.C270T:p.D90D exonic ENSG00000120949 NA synonymous SNV ENSG00000120949:ENST00000263932:exon4:c.C270T:p.D90D NA NA 1p36.22 NA NA NA NA rs2230622 0.28 0.28 0.247 0.292732 0.2296 0.3264 0.379 0.2118 0.3712 0.22 0.33 0.36 0.24 0.2802 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.795834 NA NA 0.242093 0.216977 NA 0.217 NA 4.9147736 1169 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 1169 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 1169 21 45219524 45219524 T C exonic RRP1 NA synonymous SNV RRP1:NM_003683:exon9:c.T885C:p.V295V exonic ENSG00000160214 NA synonymous SNV ENSG00000160214:ENST00000497547:exon9:c.T885C:p.V295V NA NA 21q22.3 NA NA NA NA rs4566449 0.3 0.3 0.284 0.348842 0.2078 0.3175 0.3415 0.4213 0.4335 0.21 0.32 0.28 0.42 0.3092 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97397 NA NA 0.235887 0.374759 NA 0.297 NA 4.9137796 1169 5 131670546 131670546 C G exonic SLC22A4 NA synonymous SNV SLC22A4:NM_003059:exon7:c.C1182G:p.T394T exonic ENSG00000197208 NA synonymous SNV ENSG00000197208:ENST00000200652:exon7:c.C1182G:p.T394T NA NA 5q31.1 NA Name=c-Fos NA NA rs272879 0.56 0.56 0.544 0.520168 0.5845 0.3304 0.6729 0.6778 0.3282 0.58 0.34 0.68 0.69 0.5613 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 0.300002 NA NA 0.607093 0.656378 NA 0.616 NA 4.9137736 1169 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 1169 11 1084821 1084821 T C exonic MUC2 NA synonymous SNV MUC2:NM_002457:exon20:c.T2616C:p.D872D exonic ENSG00000198788 NA synonymous SNV ENSG00000198788:ENST00000359061:exon20:c.T2616C:p.D872D,ENSG00000198788:ENST00000441003:exon20:c.T2616C:p.D872D NA NA 11p15.5 NA NA NA NA rs10794288 0.31 0.31 0.283 0.338858 0.2167 0.3919 0.3646 0.4259 0.274 0.21 0.4 0.3 0.38 0.3343 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.36025 NA NA 0.202093 0.401249 NA 0.261 NA 4.9135736 1169 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 1169 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 1169 7 129986338 129986338 C T exonic CPA5 NA synonymous SNV CPA5:NM_001127442:exon2:c.C12T:p.T4T,CPA5:NM_080385:exon3:c.C12T:p.T4T,CPA5:NM_001127441:exon4:c.C12T:p.T4T exonic ENSG00000158525 NA synonymous SNV ENSG00000158525:ENST00000393213:exon1:c.C12T:p.T4T,ENSG00000158525:ENST00000431780:exon2:c.C12T:p.T4T,ENSG00000158525:ENST00000461828:exon2:c.C12T:p.T4T,ENSG00000158525:ENST00000463587:exon2:c.C12T:p.T4T,ENSG00000158525:ENST00000485477:exon2:c.C12T:p.T4T,ENSG00000158525:ENST00000494311:exon2:c.C12T:p.T4T,ENSG00000158525:ENST00000466363:exon3:c.C12T:p.T4T,ENSG00000158525:ENST00000474905:exon3:c.C12T:p.T4T,ENSG00000158525:ENST00000497503:exon3:c.C12T:p.T4T,ENSG00000158525:ENST00000355388:exon4:c.C12T:p.T4T NA NA 7q32.2 Score=804;Name=V$ROAZ_01 NA NA NA rs6973851 0.57 0.57 0.554 0.59345 0.5845 0.5347 0.6484 0.6467 0.5521 0.6 0.49 0.62 0.57 0.5897 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.091927 NA NA 0.580116 0.638221 NA 0.58 NA 4.9123506 1169 1 154988957 154988957 A G exonic ZBTB7B NA synonymous SNV ZBTB7B:NM_001256455:exon3:c.A1416G:p.P472P,ZBTB7B:NM_001252406:exon5:c.A1518G:p.P506P exonic ENSG00000160685 NA synonymous SNV ENSG00000160685:ENST00000292176:exon2:c.A1416G:p.P472P,ENSG00000160685:ENST00000368426:exon4:c.A1416G:p.P472P,ENSG00000160685:ENST00000417934:exon5:c.A1518G:p.P506P,ENSG00000160685:ENST00000535420:exon5:c.A1416G:p.P472P NA NA 1q21.3 Score=887;Name=V$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 1169 10 133961494 133961494 C T exonic JAKMIP3 NA synonymous SNV JAKMIP3:NM_001105521:exon13:c.C1788T:p.H596H exonic ENSG00000188385 NA synonymous SNV ENSG00000188385:ENST00000298622:exon13:c.C1788T:p.H596H Score=409;Name=lod=61 NA 10q26.3 NA NA NA NA rs2818384 0.47 0.47 0.436 0.425519 0.5895 0.3065 0.7233 0.2821 0.362 0.58 0.3 0.67 0.33 0.5587 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 -1.016528 NA NA 0.606428 0.346206 NA 0.486 NA 4.9120386 1169 19 56369314 56369314 G A exonic NLRP4 NA synonymous SNV NLRP4:NM_134444:exon3:c.G555A:p.T185T exonic ENSG00000160505 NA synonymous SNV ENSG00000160505:ENST00000587891:exon1:c.G330A:p.T110T,ENSG00000160505:ENST00000301295:exon3:c.G555A:p.T185T,ENSG00000160505:ENST00000346986:exon3:c.G555A:p.T185T NA NA 19q13.43 NA NA NA NA rs16986718 0.27 0.27 0.288 0.245407 0.2575 0.2391 0.2651 0.3222 0.1217 0.24 0.26 0.28 0.32 0.2364 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45693 NA NA 0.260814 0.325465 ID=COSM1396696;OCCURENCE=1(large_intestine) 0.174 NA 4.9119526 1169 6 116599665 116599665 T C UTR3 TSPYL1 NM_003309:c.*15A>G NA NA UTR3 ENSG00000189241 ENST00000368608:c.*15A>G NA NA NA NA 6q22.1 NA NA Name=15 NA rs9400897 0.17 0.17 0.158 0.188099 0.1282 0.372 0.1585 0.0068 0.3262 0.13 0.4 0.15 0.01 0.1632 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.90284 NA NA 0.13 0.027463 NA 0.174 NA 4.9119334 1169 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 1169 1 36553673 36553673 A G exonic TEKT2 NA synonymous SNV TEKT2:NM_014466:exon10:c.A1179G:p.T393T exonic ENSG00000092850 NA synonymous SNV ENSG00000092850:ENST00000207457:exon10:c.A1179G:p.T393T NA NA 1p34.3 NA Name=Max Name=5 NA rs399393 0.93 0.93 0.923 0.938698 0.9115 0.999 0.9395 0.9123 0.9397 0.91 1 0.93 0.89 0.9252 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022864 NA NA 0.918372 0.92416 NA 0.826 NA 4.9115946 1169 17 72301432 72301432 A G exonic DNAI2 NA synonymous SNV DNAI2:NM_001172810:exon9:c.A1062G:p.E354E,DNAI2:NM_023036:exon9:c.A1062G:p.E354E exonic ENSG00000171595 NA synonymous SNV ENSG00000171595:ENST00000307504:exon8:c.A633G:p.E211E,ENSG00000171595:ENST00000446837:exon8:c.A1062G:p.E354E,ENSG00000171595:ENST00000579490:exon8:c.A1233G:p.E411E,ENSG00000171595:ENST00000311014:exon9:c.A1062G:p.E354E,ENSG00000171595:ENST00000582036:exon9:c.A1062G:p.E354E Score=419;Name=lod=67 NA 17q25.1 NA NA NA NA rs8073660 0.4 0.4 0.413 0.398762 0.6103 0.254 0.3732 0.2965 0.4867 0.63 0.23 0.37 0.27 0.5233 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.093172 NA NA 0.621512 0.36473 NA 0.522 NA 4.9115546 1169 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 1169 4 77940418 77940418 T A intronic SEPT11 NA NA NA intronic ENSG00000138758 NA NA NA Score=489;Name=lod=130 NA 4q21.1 NA NA NA NA rs28541859 0.06 0.06 0.048 0.0543131 0.0189 0.1012 0.0648 0.0681 0.0164 0.02 0.12 0.06 0.08 0.0443 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 1.22408 NA NA 0.025698 0.057876 ID=COSM149700;OCCURENCE=1(stomach) 0.043 NA 4.911102 1169 22 25282711 25282711 T C intronic SGSM1 NA NA NA intronic ENSG00000167037 NA NA NA NA NA 22q11.23 NA Name=CTCF NA NA rs16979179 0.05 0.05 0.041 0.0638978 0.0099 0.0903 0.0447 0.0825 0.0808 0.01 0.06 0.05 0.08 0.0633 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 0.995905 NA NA 0.015772 0.067119 NA 0.051 NA 4.911028 1169 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=Pol2,GATA-2,c-Jun,GABP 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 1169 2 233346569 233346569 C T intronic ECEL1 NA NA NA intronic ENSG00000171551 NA NA NA NA NA 2q37.1 NA NA NA NA rs76290356 0.02 0.02 0.007 0.00998403 0.0298 NA 0.0245 NA 0.0031 0.03 NA 0.03 0.002 0.0248 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 -0.98341 NA NA 0.034651 0.004312 NA 0.007 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116932.2;CLNDSDB=.;CLNDSDBID=. 4.910749 1169 1 90486412 90486412 T G exonic ZNF326 NA synonymous SNV ZNF326:NM_182976:exon10:c.T1236G:p.V412V exonic ENSG00000162664 NA synonymous SNV ENSG00000162664:ENST00000455342:exon8:c.T618G:p.V206V,ENSG00000162664:ENST00000340281:exon10:c.T1236G:p.V412V,ENSG00000162664:ENST00000370447:exon10:c.T969G:p.V323V Score=642;Name=lod=543 NA 1p22.2 NA NA NA NA rs2816881 0.71 0.71 0.715 0.693091 0.5736 0.8909 0.7205 0.6626 0.6339 0.59 0.9 0.69 0.68 0.6211 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 1.269 1.269 NA 0.561395 0.655243 NA 0.623 NA 4.9105716 1169 18 28734749 28734749 A G exonic DSC1 NA synonymous SNV DSC1:NM_004948:exon5:c.T615C:p.Y205Y,DSC1:NM_024421:exon5:c.T615C:p.Y205Y exonic ENSG00000134765 NA synonymous SNV ENSG00000134765:ENST00000257197:exon5:c.T615C:p.Y205Y,ENSG00000134765:ENST00000257198:exon5:c.T615C:p.Y205Y Score=449;Name=lod=89 NA 18q12.1 NA NA NA NA rs2249810 0.53 0.53 0.522 0.478634 0.6183 0.6657 0.5749 0.2057 0.4427 0.62 0.68 0.57 0.21 0.5621 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.414155 NA NA 0.576163 0.275079 NA 0.377 NA 4.9101036 1169 2 220427347 220427347 G T exonic OBSL1 NA synonymous SNV OBSL1:NM_001173408:exon8:c.C2730A:p.A910A,OBSL1:NM_001173431:exon8:c.C2730A:p.A910A,OBSL1:NM_015311:exon8:c.C2730A:p.A910A exonic ENSG00000124006 NA synonymous SNV ENSG00000124006:ENST00000265318:exon8:c.C2730A:p.A910A,ENSG00000124006:ENST00000289656:exon8:c.C1491A:p.A497A,ENSG00000124006:ENST00000373873:exon8:c.C2730A:p.A910A,ENSG00000124006:ENST00000373876:exon8:c.C2730A:p.A910A,ENSG00000124006:ENST00000404537:exon8:c.C2730A:p.A910A,ENSG00000124006:ENST00000603926:exon8:c.C2730A:p.A910A NA NA 2q35 NA NA NA NA rs10804275 0.21 0.21 0.179 0.169728 0.2406 0.2123 0.2608 0.0983 0.0849 0.24 0.21 0.27 0.11 0.2684 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.408806 NA NA 0.247609 0.13684 NA 0.109 NA 4.9100576 1169 2 96795857 96795857 T C exonic ASTL NA nonsynonymous SNV ASTL:NM_001002036:exon7:c.A665G:p.Q222R exonic ENSG00000188886 NA nonsynonymous SNV ENSG00000188886:ENST00000342380:exon7:c.A665G:p.Q222R NA NA 2q11.1 NA NA NA NA rs749458 0.89 0.89 0.893 0.927117 0.7684 1 0.8732 0.9924 0.9652 0.78 1 0.84 0.99 0.8596 1 0.95 T 0.0 B 0.001 B 0.770 N 1.000 P -0.155 N 0.02 T -0.952 T 0.000 T 0.019 -0.868 0.507 -1.91 -0.522 -0.603 1.337 -0.868078 NA 1 0.795349 0.958239 NA 0.906 NA 4.9099844 1169 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 1169 17 970413 970413 C T exonic ABR NA synonymous SNV ABR:NM_001092:exon9:c.G975A:p.E325E,ABR:NM_001159746:exon10:c.G948A:p.E316E,ABR:NM_021962:exon10:c.G1086A:p.E362E exonic ENSG00000159842 NA synonymous SNV ENSG00000159842:ENST00000536794:exon5:c.G432A:p.E144E,ENSG00000159842:ENST00000571945:exon5:c.G441A:p.E147E,ENSG00000159842:ENST00000291107:exon9:c.G975A:p.E325E,ENSG00000159842:ENST00000574437:exon9:c.G948A:p.E316E,ENSG00000159842:ENST00000302538:exon10:c.G1086A:p.E362E,ENSG00000159842:ENST00000544583:exon10:c.G948A:p.E316E Score=425;Name=lod=71 NA 17p13.3 Score=811;Name=V$OLF1_01 NA NA NA rs2262150 0.91 0.91 0.9 0.896965 0.9404 0.9683 0.8977 0.7663 0.955 0.94 0.97 0.9 0.78 0.913 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.163589 NA NA 0.903721 0.791648 NA 0.804 NA 4.9095456 1169 2 182399097 182399097 T C exonic ITGA4 NA synonymous SNV ITGA4:NM_000885:exon26:c.T2883C:p.H961H exonic ENSG00000115232 NA synonymous SNV ENSG00000115232:ENST00000397033:exon26:c.T2883C:p.H961H Score=518;Name=lod=170 NA 2q31.3 NA NA NA NA rs7562325 0.59 0.59 0.585 0.656949 0.5457 0.621 0.6297 0.6452 0.8436 0.54 0.6 0.58 0.65 0.6263 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785267 NA NA 0.585226 0.645022 NA 0.616 NA 4.9094406 1169 16 58545426 58545426 A G exonic NDRG4 NA synonymous SNV NDRG4:NM_001242834:exon14:c.A1020G:p.S340S,NDRG4:NM_001242836:exon14:c.A966G:p.S322S,NDRG4:NM_001242833:exon15:c.A1056G:p.S352S,NDRG4:NM_001242835:exon15:c.A1005G:p.S335S,NDRG4:NM_001130487:exon16:c.A1122G:p.S374S,NDRG4:NM_020465:exon16:c.A1062G:p.S354S,NDRG4:NM_022910:exon16:c.A1062G:p.S354S exonic ENSG00000103034 NA synonymous SNV ENSG00000103034:ENST00000562999:exon13:c.A930G:p.S310S,ENSG00000103034:ENST00000563799:exon14:c.A1020G:p.S340S,ENSG00000103034:ENST00000566192:exon14:c.A966G:p.S322S,ENSG00000103034:ENST00000568640:exon14:c.A1020G:p.S340S,ENSG00000103034:ENST00000569923:exon14:c.A801G:p.S267S,ENSG00000103034:ENST00000356752:exon15:c.A1056G:p.S352S,ENSG00000103034:ENST00000570248:exon15:c.A1005G:p.S335S,ENSG00000103034:ENST00000258187:exon16:c.A1062G:p.S354S,ENSG00000103034:ENST00000394279:exon16:c.A1062G:p.S354S,ENSG00000103034:ENST00000394282:exon16:c.A1122G:p.S374S NA NA 16q21 Score=839;Name=V$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 1169 6 46826508 46826508 G A exonic GPR116 NA synonymous SNV GPR116:NM_001098518:exon17:c.C3132T:p.N1044N,GPR116:NM_015234:exon17:c.C3132T:p.N1044N exonic ENSG00000069122 NA synonymous SNV ENSG00000069122:ENST00000545669:exon7:c.C1419T:p.N473N,ENSG00000069122:ENST00000456426:exon15:c.C2706T:p.N902N,ENSG00000069122:ENST00000265417:exon17:c.C3132T:p.N1044N,ENSG00000069122:ENST00000283296:exon17:c.C3132T:p.N1044N,ENSG00000069122:ENST00000362015:exon17:c.C3132T:p.N1044N Score=479;Name=lod=118 NA 6p12.3 Score=823;Name=V$CDP_01 NA NA NA rs613870 0.86 0.86 0.849 0.840256 0.9225 0.9921 0.9078 0.5537 0.9387 0.93 0.99 0.9 0.59 0.903 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 0.564009 NA NA 0.932093 0.590331 NA 0.746 NA 4.9090736 1169 13 76143572 76143572 T C intronic UCHL3 NA NA NA ncRNA_intronic ENSG00000261553 NA NA NA Score=243;Name=lod=13 NA 13q22.2 NA NA NA NA rs2296146 0.17 0.17 0.14 0.197284 0.1183 0.3016 0.3242 0.1006 0.2117 0.12 0.26 0.24 0.1 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 0.826819 NA NA 0.132093 0.126419 NA 0.167 NA 4.9087403 1169 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 1169 12 21331599 21331599 T C exonic SLCO1B1 NA synonymous SNV SLCO1B1:NM_006446:exon6:c.T571C:p.L191L exonic ENSG00000134538 NA synonymous SNV ENSG00000134538:ENST00000256958:exon6:c.T571C:p.L191L Score=383;Name=lod=48 NA 12p12.1 NA NA NA NA rs4149057 0.39 0.39 0.391 0.367412 0.6074 0.2431 0.5043 0.1445 0.453 0.6 0.25 0.51 0.15 0.526 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.406991 NA NA 0.624884 0.221062 NA 0.399 NA 4.9083826 1169 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 1169 22 43599991 43599991 C T UTR3 SCUBE1 NM_173050:c.*12G>A NA NA UTR3 ENSG00000159307 ENST00000360835:c.*12G>A NA NA NA NA 22q13.2 NA Name=ZNF263 NA NA rs13056939 0.11 0.11 0.105 0.124201 0.1322 0.0536 0.1095 0.1021 0.229 0.13 0.07 0.1 0.13 0.1432 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399275 NA NA 0.150233 0.12778 NA 0.167 NA 4.9077004 1169 15 34628570 34628570 C G intronic SLC12A6 NA NA NA intronic ENSG00000140199 NA NA NA NA NA 15q14 NA Name=TBP,Pol2-4H8,Pol2 Name=9 NA rs347836 0.46 0.46 0.494 0.48762 0.3519 0.3512 0.3386 0.7935 0.4601 0.36 0.36 0.36 0.81 0.3805 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 0.257704 NA NA 0.360183 0.710352 NA 0.355 NA 4.907417 1169 6 34386219 34386219 G A intronic RPS10,RPS10-NUDT3 NA NA NA intronic ENSG00000124614,ENSG00000270800 NA NA NA NA NA 6p21.31 NA Name=Pol2 NA NA rs41269040 0.02 0.02 0.018 0.0197684 0.0308 0.005 0.0058 0.0045 0.0542 0.04 0.01 0.01 0.01 0.0315 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 -1.297933 NA NA 0.030581 0.005901 NA 0.058 NA 4.907119 1169 16 65016087 65016087 A C exonic CDH11 NA nonsynonymous SNV CDH11:NM_001797:exon8:c.T1117G:p.S373A exonic ENSG00000140937 NA nonsynonymous SNV ENSG00000140937:ENST00000566827:exon7:c.T739G:p.S247A,ENSG00000140937:ENST00000268603:exon8:c.T1117G:p.S373A,ENSG00000140937:ENST00000394156:exon8:c.T1117G:p.S373A NA NA 16q21 NA NA NA NA rs35213 0.76 0.76 0.766 0.745407 0.8052 0.995 0.7637 0.3835 0.9029 0.81 1 0.74 0.43 0.8043 1 0.53 T 0.001 B 0.004 B 0.015 N 1.000 P 1.195 L 4.7 T -0.969 T 0.000 T 0.049 -1.027 0.223 1.34 0.151 -0.184 5.403 -1.026855 NA 0.75 0.816744 0.450749 NA 0.645 NA 4.9070894 1169 22 26690407 26690407 T C intronic SEZ6L NA NA NA intronic ENSG00000100095 NA NA NA NA NA 22q12.1 NA Name=EBF,EBF1_(C-8) 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 1169 7 48092486 48092486 T C exonic C7orf57 NA synonymous SNV C7orf57:NM_001267865:exon6:c.T381C:p.D127D,C7orf57:NM_001267866:exon6:c.T381C:p.D127D,C7orf57:NM_001100159:exon7:c.T795C:p.D265D exonic ENSG00000164746 NA synonymous SNV ENSG00000164746:ENST00000435376:exon6:c.T381C:p.D127D,ENSG00000164746:ENST00000348904:exon7:c.T795C:p.D265D,ENSG00000164746:ENST00000420324:exon7:c.T882C:p.D294D,ENSG00000164746:ENST00000430738:exon7:c.T930C:p.D310D,ENSG00000164746:ENST00000539619:exon7:c.T795C:p.D265D NA NA 7p12.3 NA Name=c-Jun,USF2 Name=82 NA rs2686791 0.84 0.84 0.844 0.825479 0.9543 0.746 0.8602 0.7814 0.8098 0.95 0.75 0.86 0.77 0.8736 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 -0.081065 NA NA 0.931759 0.77964 NA 0.862 NA 4.9070076 1169 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 1169 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 1169 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 1170 19 16034714 16034714 A G exonic CYP4F11 NA nonsynonymous SNV CYP4F11:NM_021187:exon6:c.T826C:p.C276R,CYP4F11:NM_001128932:exon7:c.T826C:p.C276R exonic ENSG00000171903 NA nonsynonymous SNV ENSG00000171903:ENST00000326742:exon6:c.T826C:p.C276R,ENSG00000171903:ENST00000402119:exon6:c.T826C:p.C276R,ENSG00000171903:ENST00000248041:exon7:c.T826C:p.C276R NA NA 19p13.12 NA NA NA NA rs8104361 0.79 0.79 0.831 0.843251 0.7922 0.9921 0.8458 0.7489 0.8681 0.73 0.93 0.78 0.71 0.8323 0.93 1 T 0.0 B 0.0 B 0.654 N 1.000 P -1.515 N -0.17 T -0.970 T 0.000 T 0.071 -1.693 0.011 1.6 0.037 -0.368 2.604 -1.69261 NA 1 0.803837 0.755107 NA 0.812 NA 4.9049964 1170 11 66108670 66108670 C T intronic BRMS1 NA NA NA intronic ENSG00000174744 NA NA NA Score=532;Name=lod=193 NA 11q13.2 NA NA NA NA rs143659154 0.02 0.02 0.01 0.0135783 0.0308 NA 0.0418 0.0023 0.0051 0.04 NA 0.05 0.002 0.0322 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 0.787828 NA NA 0.032363 0.0075 NA 0.014 NA 4.904637 1170 6 36294200 36294200 T C intronic C6orf222 NA NA NA intronic ENSG00000189325 NA NA NA NA NA 6p21.31 NA NA Name=24 NA rs763020 0.05 0.05 0.034 0.033147 0.0954 0.004 0.0591 0.0053 0.0184 0.1 0.01 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 -0.226356 NA NA NA NA NA 0.065 NA 4.9046 1170 21 45725621 45725621 G A intronic PFKL NA NA NA intronic ENSG00000141959 NA NA NA NA NA 21q22.3 NA NA Name=11 NA rs73231245 0.07 0.07 0.069 0.0854633 0.0954 0.0258 0.0922 0.0613 0.1646 0.1 0.03 0.09 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 -0.56378 NA NA NA NA NA 0.116 NA 4.9046 1170 19 46815499 46815499 T C exonic HIF3A NA synonymous SNV HIF3A:NM_022462:exon6:c.T645C:p.D215D,HIF3A:NM_152796:exon6:c.T645C:p.D215D,HIF3A:NM_152794:exon7:c.T846C:p.D282D,HIF3A:NM_152795:exon7:c.T852C:p.D284D exonic ENSG00000124440 NA synonymous SNV ENSG00000124440:ENST00000420102:exon5:c.T699C:p.D233D,ENSG00000124440:ENST00000600383:exon5:c.T645C:p.D215D,ENSG00000124440:ENST00000244303:exon6:c.T645C:p.D215D,ENSG00000124440:ENST00000472815:exon6:c.T645C:p.D215D,ENSG00000124440:ENST00000300862:exon7:c.T846C:p.D282D,ENSG00000124440:ENST00000339613:exon7:c.T684C:p.D228D,ENSG00000124440:ENST00000377670:exon7:c.T852C:p.D284D NA NA 19q13.32 NA NA NA NA rs8101480 0.87 0.87 0.874 0.867812 0.9314 0.8621 0.8559 0.8185 0.8834 0.93 0.86 0.84 0.81 0.9024 0.93 . . . . . . . . 0.000 P . . . . -1.034 T 0.000 T . 0.087 4.471 -3.73 -0.871 -0.857 10.648 0.087264 NA NA 0.928372 0.848616 NA 0.855 NA 4.9044946 1170 3 119263680 119263680 C T exonic CD80 NA synonymous SNV CD80:NM_005191:exon3:c.G135A:p.V45V exonic ENSG00000121594 NA synonymous SNV ENSG00000121594:ENST00000383668:exon2:c.G135A:p.V45V,ENSG00000121594:ENST00000383669:exon2:c.G135A:p.V45V,ENSG00000121594:ENST00000264246:exon3:c.G135A:p.V45V,ENSG00000121594:ENST00000478182:exon3:c.G135A:p.V45V NA NA 3q13.33 NA NA NA NA rs2228017 0.24 0.24 0.241 0.221046 0.2624 0.2669 0.2147 0.1679 0.2076 0.26 0.29 0.23 0.15 0.2518 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044003 NA NA 0.248953 0.185202 NA 0.188 NA 4.9035136 1170 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 1170 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 1170 22 21383312 21383312 G A UTR3 SLC7A4 NM_004173:c.*32C>T NA NA UTR3 ENSG00000099960 ENST00000382932:c.*32C>T,ENST00000403586:c.*32C>T NA NA NA NA 22q11.21 NA NA Name=4 NA rs2075279 0.29 0.29 0.248 0.350839 0.1103 0.5456 0.2565 0.413 0.3804 0.1 0.5 0.22 0.38 0.2211 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102887 NA NA 0.099372 0.352794 NA 0.275 NA 4.9025614 1170 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 1170 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 1170 10 13375906 13375906 T C exonic SEPHS1 NA synonymous SNV SEPHS1:NM_001195602:exon4:c.A270G:p.T90T,SEPHS1:NM_001195604:exon5:c.A471G:p.T157T,SEPHS1:NM_012247:exon5:c.A471G:p.T157T exonic ENSG00000086475 NA synonymous SNV ENSG00000086475:ENST00000425947:exon4:c.A270G:p.T90T,ENSG00000086475:ENST00000537130:exon4:c.A270G:p.T90T,ENSG00000086475:ENST00000327347:exon5:c.A471G:p.T157T,ENSG00000086475:ENST00000378614:exon5:c.A471G:p.T157T,ENSG00000086475:ENST00000413411:exon5:c.A471G:p.T157T,ENSG00000086475:ENST00000545675:exon5:c.A471G:p.T157T NA NA 10p13 Score=842;Name=V$TAL1BETAITF2_01 NA NA NA rs10752297 0.65 0.65 0.607 0.677915 0.5487 0.7609 0.745 0.7012 0.6462 0.54 0.74 0.72 0.67 0.6328 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.701002 NA NA 0.583488 0.697458 NA 0.703 NA 4.9016786 1170 21 44323590 44323590 T G exonic NDUFV3 NA synonymous SNV NDUFV3:NM_021075:exon3:c.T468G:p.S156S exonic ENSG00000160194 NA synonymous SNV ENSG00000160194:ENST00000354250:exon3:c.T468G:p.S156S Score=414;Name=lod=64 NA 21q22.3 NA NA NA NA rs4148973 0.52 0.52 0.545 0.530152 0.5885 0.3383 0.3473 0.7269 0.5317 0.59 0.34 0.39 0.73 0.5637 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.021551 NA NA 0.61314 0.705856 NA 0.609 NA 4.9013266 1170 9 71986276 71986276 G C intronic FAM189A2 NA NA NA UTR5 ENSG00000135063 ENST00000303068:c.-12271G>C NA NA NA NA 9q21.11 NA NA Name=48 NA rs74709394 0.09 0.09 0.077 0.0840655 0.0974 0.0556 0.0807 0.0998 0.0808 0.11 0.05 0.12 0.1 0.0866 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.741628 1.741628 NA 0.081612 0.109393 NA 0.065 NA 4.9010547 1170 15 101717680 101717680 G T exonic CHSY1 NA synonymous SNV CHSY1:NM_014918:exon3:c.C2322A:p.T774T exonic ENSG00000131873 NA synonymous SNV ENSG00000131873:ENST00000254190:exon3:c.C2322A:p.T774T NA NA 15q26.3 Score=825;Name=V$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 1170 15 40330564 40330564 C T exonic SRP14 NA synonymous SNV SRP14:NM_003134:exon3:c.G129A:p.K43K exonic ENSG00000140319 NA synonymous SNV ENSG00000140319:ENST00000267884:exon3:c.G129A:p.K43K,ENSG00000140319:ENST00000559081:exon3:c.G129A:p.K43K Score=355;Name=lod=37 NA 15q15.1 NA NA Name=52 NA rs7321 0.88 0.88 0.881 0.887181 0.9284 0.7609 0.9179 0.9236 0.9039 0.92 0.76 0.91 0.91 0.9103 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 0.923671 NA NA 0.927088 0.939228 NA 0.92 NA 4.9008786 1170 4 54232110 54232110 G A UTR5 SCFD2 NM_152540:c.-2C>T NA NA UTR5 ENSG00000184178 ENST00000401642:c.-2C>T,ENST00000388940:c.-2C>T NA NA NA NA 4q12 NA Name=Sin3Ak-20,Mxi1_(bHLH),TCF4,Max,IRF1,GTF2F1_(RAP-74),CtBP2,ELK4,USF-1,USF2,CHD2_(N-1250),ELF1_(SC-631),ATF3,IRF4_(M-17),TAF1,RFX5_(N-494),HMGN3,GABP NA NA rs1351514 0.14 0.14 0.105 0.145367 0.1412 0.2232 0.1816 0.0061 0.2321 0.14 0.22 0.19 0.01 0.1606 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.288311 NA NA 0.130814 0.032485 NA 0.087 NA 4.9007194 1170 1 21553723 21553723 G T intronic ECE1 NA NA NA intronic ENSG00000117298 NA NA NA Score=609;Name=lod=399 NA 1p36.12 NA NA NA NA rs3026903 0.02 0.02 0.013 0.0145767 0.0408 NA 0.0173 0.0076 0.0102 0.05 NA 0.02 0.01 0.0276 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 1.332659 1.332659 NA 0.031395 0.013845 NA 0.007 NA 4.900205 1170 9 130630233 130630233 G T UTR3 AK1 NM_000476:c.*54C>A NA NA ncRNA_exonic ENSG00000257524 NA NA NA NA NA 9q34.11 NA Name=CTCF Name=18 NA rs4226 0.72 0.72 0.665 0.681709 0.8022 0.9018 0.7089 0.3517 0.7577 0.8 0.9 0.74 0.36 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 -1.001312 NA NA 0.797612 0.415462 NA 0.601 NA 4.900188 1170 8 146156247 146156247 C A exonic ZNF16 NA synonymous SNV ZNF16:NM_006958:exon3:c.G1926T:p.S642S,ZNF16:NM_001029976:exon4:c.G1926T:p.S642S exonic ENSG00000170631 NA synonymous SNV ENSG00000170631:ENST00000394909:exon3:c.G1926T:p.S642S,ENSG00000170631:ENST00000276816:exon4:c.G1926T:p.S642S NA NA 8q24.3 NA NA NA NA rs3735789 0.3 0.3 0.321 0.298522 0.2545 0.3284 0.232 0.4002 0.2229 0.25 0.35 0.25 0.36 0.2663 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.815804 NA NA 0.245698 0.38788 NA 0.29 NA 4.9001686 1170 13 36223780 36223780 T C ncRNA_intronic MIR548F5 NA NA NA intronic ENSG00000172915 NA NA NA Score=574;Name=lod=286 NA 13q13.3 NA NA NA NA rs3765523 0.11 0.11 0.101 0.122604 0.1441 0.123 0.062 0.0582 0.2301 0.15 0.12 0.06 0.06 0.1384 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.636216 3.636216 NA 0.150895 0.068066 ID=COSN164462;OCCURENCE=1(breast) 0.116 NA 4.8999383 1170 1 86954880 86954880 G A intronic CLCA1 NA NA NA intronic ENSG00000016490 NA NA NA NA NA 1p22.3 NA Name=NRSF NA NA rs5744379 0.02 0.02 0.019 0.0185703 0.0378 0.005 0.0331 0.0053 0.0204 0.04 0.01 0.03 0.01 0.0272 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 -0.441785 NA NA 0.035233 0.00522 NA 0.029 NA 4.899767 1170 6 110541075 110541075 G A intronic CDC40 NA NA NA intronic ENSG00000168438 NA NA NA Score=500;Name=lod=144 NA 6q21 NA NA NA NA rs116882589 0.01 0.01 0.008 0.0135783 0.0358 0.001 0.0101 NA 0.0245 0.03 NA 0.01 NA 0.029 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 1.262137 1.262137 NA 0.035465 0.006582 NA 0.007 NA 4.899735 1170 19 4033462 4033462 T C exonic PIAS4 NA synonymous SNV PIAS4:NM_015897:exon9:c.T1026C:p.C342C exonic ENSG00000105229 NA synonymous SNV ENSG00000105229:ENST00000262971:exon9:c.T1026C:p.C342C Score=655;Name=lod=611 NA 19p13.3 Score=938;Name=V$E47_01 NA NA NA rs7255988 0.94 0.94 0.918 0.898163 0.9304 0.9514 0.9524 0.8616 0.8211 0.94 0.97 0.96 0.88 0.9038 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 1.297824 1.297824 NA 0.932897 0.857208 NA 0.855 NA 4.8995696 1170 20 17475217 17475217 C T exonic BFSP1 NA synonymous SNV BFSP1:NM_001161705:exon8:c.G1125A:p.A375A,BFSP1:NM_001195:exon8:c.G1500A:p.A500A exonic ENSG00000125864 NA synonymous SNV ENSG00000125864:ENST00000377868:exon8:c.G1125A:p.A375A,ENSG00000125864:ENST00000377873:exon8:c.G1500A:p.A500A,ENSG00000125864:ENST00000544874:exon9:c.G1083A:p.A361A,ENSG00000125864:ENST00000536626:exon10:c.G1083A:p.A361A NA NA 20p12.1 NA NA NA NA rs6136118 0.31 0.31 0.331 0.339457 0.2435 0.4038 0.3069 0.3404 0.3937 0.24 0.42 0.3 0.32 0.2878 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.213169 NA NA 0.235814 0.330912 NA 0.319 NA 4.8995526 1170 19 7524846 7524846 C T exonic ARHGEF18 NA synonymous SNV ARHGEF18:NM_001130955:exon10:c.C1854T:p.V618V,ARHGEF18:NM_015318:exon11:c.C1380T:p.V460V exonic ENSG00000104880,ENSG00000268861 NA synonymous SNV ENSG00000104880:ENST00000359920:exon10:c.C1854T:p.V618V,ENSG00000104880:ENST00000319670:exon11:c.C1380T:p.V460V NA NA 19p13.2 NA NA NA NA rs2287914 0.2 0.2 0.213 0.1873 0.2485 0.12 0.2233 0.1876 0.1677 0.26 0.14 0.19 0.16 0.3022 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.19353 NA NA 0.216465 0.184535 NA 0.188 NA 4.8995016 1170 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 1170 11 5373334 5373334 A G exonic OR51B6 NA synonymous SNV OR51B6:NM_001004750:exon1:c.A597G:p.V199V exonic ENSG00000176239 NA synonymous SNV ENSG00000176239:ENST00000380219:exon1:c.A597G:p.V199V NA NA 11p15.4 NA NA NA NA rs5006882 0.22 0.22 0.218 0.233626 0.2644 0.0863 0.2349 0.326 0.228 0.25 0.05 0.25 0.32 0.2392 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.05057 NA NA 0.264138 0.29214 NA 0.239 NA 4.8989286 1170 1 10511589 10511589 T C exonic APITD1-CORT,CORT NA synonymous SNV CORT:NM_001302:exon2:c.T255C:p.S85S,APITD1-CORT:NM_001243768:exon4:c.T369C:p.S123S,APITD1-CORT:NM_198544:exon5:c.T432C:p.S144S exonic ENSG00000175279,ENSG00000241563,ENSG00000251503 NA synonymous SNV ENSG00000241563:ENST00000320498:exon2:c.T405C:p.S135S,ENSG00000241563:ENST00000377049:exon2:c.T255C:p.S85S,ENSG00000251503:ENST00000400900:exon5:c.T432C:p.S144S,ENSG00000175279:ENST00000602787:exon5:c.T432C:p.S144S NA NA 1p36.22 Score=727;Name=V$HOX13_01 NA Name=69 NA rs666103 0.88 0.88 0.881 0.867612 0.9344 0.8591 0.8213 0.8759 0.8292 0.93 0.82 0.86 0.86 0.8965 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 0.373496 NA NA 0.937544 0.906136 ID=COSM146397,COSM146398;OCCURENCE=1(stomach) 0.877 NA 4.8982226 1170 7 5267849 5267849 C G intronic WIPI2 NA NA NA intronic ENSG00000157954 NA NA NA NA NA 7p22.1 Score=937;Name=V$AREB6_01 NA NA NA rs11760558 0.02 0.02 0.026 0.023762 0.0308 NA 0.0303 0.0408 0.0133 0.02 NA 0.03 0.04 0.0306 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 2.009107 2.009107 NA 0.04094 0.039265 NA 0.08 NA 4.89766 1170 2 133489601 133489601 A G exonic NCKAP5 NA synonymous SNV NCKAP5:NM_207481:exon15:c.T1195C:p.L399L,NCKAP5:NM_207363:exon17:c.T5152C:p.L1718L exonic ENSG00000176771 NA synonymous SNV ENSG00000176771:ENST00000405974:exon13:c.T1195C:p.L399L,ENSG00000176771:ENST00000317721:exon15:c.T5152C:p.L1718L,ENSG00000176771:ENST00000409213:exon15:c.T1195C:p.L399L,ENSG00000176771:ENST00000409261:exon17:c.T5152C:p.L1718L NA NA 2q21.2 NA NA NA NA rs56284623 0.16 0.16 0.134 0.15655 0.2634 0.1002 0.1499 0.0492 0.2546 0.27 0.12 0.16 0.04 0.2383 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.550379 NA NA 0.267333 0.080448 NA 0.217 NA 4.8976336 1170 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 1170 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 1170 15 101464915 101464915 T C exonic LRRK1 NA synonymous SNV LRRK1:NM_024652:exon2:c.T78C:p.R26R exonic ENSG00000154237 NA synonymous SNV ENSG00000154237:ENST00000525284:exon1:c.T78C:p.R26R,ENSG00000154237:ENST00000531270:exon1:c.T78C:p.R26R,ENSG00000154237:ENST00000388948:exon2:c.T78C:p.R26R,ENSG00000154237:ENST00000532029:exon2:c.T78C:p.R26R,ENSG00000154237:ENST00000534045:exon3:c.T78C:p.R26R NA NA 15q26.3 NA NA NA NA rs11630691 0.3 0.3 0.309 0.341254 0.2435 0.1339 0.1772 0.6891 0.3016 0.22 0.13 0.2 0.7 0.2657 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 1.018768 NA NA 0.261047 0.608261 ID=COSM1128150;OCCURENCE=1(prostate) 0.391 NA 4.8964196 1170 12 113398919 113398919 G A exonic OAS3 NA synonymous SNV OAS3:NM_006187:exon8:c.G1701A:p.S567S exonic ENSG00000111331 NA synonymous SNV ENSG00000111331:ENST00000228928:exon8:c.G1701A:p.S567S NA NA 12q24.13 NA NA NA NA rs2072136 0.31 0.31 0.27 0.315495 0.2346 0.6577 0.2752 0.0862 0.3845 0.24 0.63 0.28 0.08 0.3068 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.549669 NA NA 0.229172 0.110031 NA 0.152 NA 4.8960946 1170 5 67569746 67569746 G A intronic PIK3R1 NA NA NA intronic ENSG00000145675 NA NA NA NA NA 5q13.1 NA Name=Oct-2,TBP,Pol2,p300,POU2F2,Pol2-4H8 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 1170 19 7524855 7524855 C T exonic ARHGEF18 NA synonymous SNV ARHGEF18:NM_001130955:exon10:c.C1863T:p.R621R,ARHGEF18:NM_015318:exon11:c.C1389T:p.R463R exonic ENSG00000104880,ENSG00000268861 NA synonymous SNV ENSG00000104880:ENST00000359920:exon10:c.C1863T:p.R621R,ENSG00000104880:ENST00000319670:exon11:c.C1389T:p.R463R NA NA 19p13.2 NA NA NA NA rs2287915 0.23 0.23 0.246 0.227037 0.2455 0.2728 0.219 0.2133 0.1851 0.26 0.28 0.19 0.18 0.3075 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.911845 NA NA 0.217695 0.200775 NA 0.217 NA 4.8959716 1170 7 30491311 30491311 C T exonic NOD1 NA synonymous SNV NOD1:NM_006092:exon6:c.G1722A:p.A574A exonic ENSG00000106100 NA synonymous SNV ENSG00000106100:ENST00000222823:exon6:c.G1722A:p.A574A,ENSG00000106100:ENST00000434755:exon6:c.G1722A:p.A574A NA NA 7p14.3 NA NA NA NA rs2075821 0.29 0.29 0.299 0.317292 0.2366 0.3849 0.1643 0.3321 0.4192 0.22 0.36 0.19 0.36 0.2753 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.937979 NA NA 0.258953 0.32433 NA 0.246 NA 4.8958136 1170 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=CTCF,CTCF_(SC-5916),Rad21 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 1170 11 71152461 71152461 A G exonic DHCR7 NA synonymous SNV DHCR7:NM_001163817:exon6:c.T438C:p.N146N,DHCR7:NM_001360:exon6:c.T438C:p.N146N exonic ENSG00000172893 NA synonymous SNV ENSG00000172893:ENST00000526780:exon5:c.T438C:p.N146N,ENSG00000172893:ENST00000355527:exon6:c.T438C:p.N146N,ENSG00000172893:ENST00000407721:exon6:c.T438C:p.N146N,ENSG00000172893:ENST00000527316:exon6:c.T342C:p.N114N Score=514;Name=lod=163 NA 11q13.4 NA NA NA NA rs949177 0.87 0.87 0.887 0.807308 0.9493 0.8274 0.8055 0.8162 0.6299 0.96 0.87 0.81 0.79 0.8747 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 -0.633446 NA NA 0.947601 0.836591 NA 0.833 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079654.1;CLNDSDB=.;CLNDSDBID=. 4.8950656 1170 11 1464883 1464883 G A intronic BRSK2 NA NA NA intronic ENSG00000174672 NA NA NA NA NA 11p15.5 NA Name=ZEB1_(SC-25388) NA NA rs115677807 0.04 0.04 0.022 0.0413339 0.0328 NA 0.0274 0.112 0.0072 0.03 NA 0.04 0.08 0.0421 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 -0.537901 NA NA 0.030039 0.077183 NA 0.036 NA 4.895061 1170 4 786401 786401 T C intronic CPLX1 NA NA NA intronic ENSG00000168993 NA NA NA NA NA 4p16.3 NA Name=CTCF,YY1_(C-20) Name=27 NA rs2306251 0.28 0.28 0.271 0.298922 0.3907 0.2738 0.3357 0.1331 0.4284 0.38 0.26 0.31 0.11 0.3448 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.128637 NA NA 0.369448 0.152765 NA 0.268 NA 4.895052 1171 7 158851234 158851234 T G exonic VIPR2 NA synonymous SNV VIPR2:NM_003382:exon5:c.A393C:p.T131T exonic ENSG00000106018 NA synonymous SNV ENSG00000106018:ENST00000377633:exon2:c.A345C:p.T115T,ENSG00000106018:ENST00000262178:exon5:c.A393C:p.T131T,ENSG00000106018:ENST00000402066:exon5:c.A816C:p.T272T Score=509;Name=lod=156 NA 7q36.3 Score=873;Name=V$YY1_01 NA NA NA rs2098349 0.87 0.87 0.839 0.839657 0.9433 0.999 0.9251 0.5242 0.9346 0.95 1 0.93 0.56 0.9061 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.103748 NA NA 0.922326 0.600318 NA 0.855 NA 4.8949406 1171 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$PAX5_01 NA NA NA rs11547734 0.6 0.6 0.56 0.616414 0.5875 0.6111 0.5317 0.6641 0.6472 0.59 0.61 0.51 0.66 0.5969 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254209 NA NA 0.588039 0.644072 NA 0.37 NA 4.8942276 1171 22 43089055 43089055 G C exonic A4GALT NA synonymous SNV A4GALT:NM_017436:exon3:c.C903G:p.P301P exonic ENSG00000128274 NA synonymous SNV ENSG00000128274:ENST00000249005:exon2:c.C903G:p.P301P,ENSG00000128274:ENST00000381278:exon2:c.C903G:p.P301P,ENSG00000128274:ENST00000401850:exon2:c.C903G:p.P301P NA NA 22q13.2 Score=830;Name=V$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 1171 22 39883344 39883344 T C UTR5 MGAT3 NM_001098270:c.-9T>C NA NA intronic ENSG00000128268 NA NA NA NA NA 22q13.1 NA Name=CTCF NA NA rs4821902 0.15 0.15 0.139 0.154153 0.0915 0.1696 0.0591 0.3026 0.0695 0.08 0.16 0.07 0.31 0.1018 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525214 NA NA 0.079302 0.248979 NA 0.188 NA 4.8940647 1171 17 4015997 4015997 A G exonic ZZEF1 NA synonymous SNV ZZEF1:NM_015113:exon5:c.T972C:p.N324N exonic ENSG00000074755 NA synonymous SNV ENSG00000074755:ENST00000381638:exon5:c.T972C:p.N324N NA NA 17p13.2 NA NA NA NA rs58625333 0.28 0.28 0.29 0.27476 0.2634 0.248 0.2767 0.2716 0.317 0.25 0.27 0.29 0.33 0.2642 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.572444 NA NA 0.245233 0.263277 NA 0.275 NA 4.8938336 1171 12 93147808 93147808 C G intronic PLEKHG7 NA NA NA intronic ENSG00000187510 NA NA NA NA NA 12q22 NA Name=Max NA NA rs9669216 0.12 0.12 0.131 0.153954 0.1064 0.0139 0.1484 0.3646 0.0665 0.09 0.0035 0.11 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 0.590338 NA NA NA NA NA 0.174 NA 4.8936 1171 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 1171 1 76257892 76257892 A T exonic RABGGTB NA synonymous SNV RABGGTB:NM_004582:exon7:c.A606T:p.A202A exonic ENSG00000137955 NA synonymous SNV ENSG00000137955:ENST00000319942:exon7:c.A606T:p.A202A,ENSG00000137955:ENST00000535300:exon9:c.A84T:p.A28A Score=676;Name=lod=747 NA 1p31.1 NA Name=Pol2 NA NA rs12703 0.86 0.86 0.873 0.897165 0.9374 0.7371 0.8055 0.9939 0.955 0.93 0.67 0.83 0.99 0.8991 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 1.672169 1.672169 NA 0.937907 0.973445 NA 0.964 NA 4.8922596 1171 15 73614834 73614834 T C exonic HCN4 NA synonymous SNV HCN4:NM_005477:exon8:c.A3600G:p.P1200P exonic ENSG00000138622 NA synonymous SNV ENSG00000138622:ENST00000261917:exon8:c.A3600G:p.P1200P Score=479;Name=lod=118 NA 15q24.1 NA NA NA NA rs529004 0.87 0.87 0.854 0.859625 0.9374 0.879 0.9539 0.7269 0.8722 0.94 0.88 0.94 0.69 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 -0.508848 NA NA 0.934422 0.759462 NA 0.652 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000081299.1|RCV000125355.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.8922446 1171 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 1171 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 1171 18 59807635 59807635 T C intronic PIGN NA NA NA intronic ENSG00000197563 NA NA NA Score=599;Name=lod=361 NA 18q21.33 NA NA Name=3 NA rs12608212 0.44 0.44 0.341 0.392772 0.3231 0.5655 0.5072 0.1762 0.498 0.38 0.61 0.52 0.27 0.4566 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.390988 1.390988 NA 0.328941 0.198943 NA 0.413 NA 4.891359 1171 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 1171 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 1171 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 1171 2 234905078 234905078 C T exonic TRPM8 NA synonymous SNV TRPM8:NM_024080:exon22:c.C3048T:p.I1016I exonic ENSG00000144481 NA synonymous SNV ENSG00000144481:ENST00000456930:exon6:c.C831T:p.I277I,ENSG00000144481:ENST00000433712:exon21:c.C1782T:p.I594I,ENSG00000144481:ENST00000324695:exon22:c.C3048T:p.I1016I NA NA 2q37.1 NA NA NA NA rs11563208 0.19 0.19 0.167 0.158746 0.2525 0.0823 0.3184 0.0802 0.1339 0.25 0.11 0.36 0.08 0.2453 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601001 NA NA 0.278372 0.108942 NA 0.225 NA 4.8904946 1171 7 140258000 140258000 T C exonic DENND2A NA synonymous SNV DENND2A:NM_015689:exon9:c.A1902G:p.S634S exonic ENSG00000146966 NA synonymous SNV ENSG00000146966:ENST00000461883:exon9:c.A1902G:p.S634S,ENSG00000146966:ENST00000537639:exon9:c.A1902G:p.S634S,ENSG00000146966:ENST00000275884:exon10:c.A1902G:p.S634S,ENSG00000146966:ENST00000492720:exon10:c.A1902G:p.S634S,ENSG00000146966:ENST00000496613:exon11:c.A1902G:p.S634S NA NA 7q34 NA NA Name=16 NA rs12704003 0.6 0.6 0.589 0.560104 0.6014 0.8442 0.513 0.3026 0.6063 0.61 0.86 0.53 0.33 0.5799 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 1.324382 1.324382 NA 0.59579 0.363293 NA 0.609 NA 4.8895766 1171 11 5566030 5566030 A G exonic OR52H1 NA nonsynonymous SNV OR52H1:NM_001005289:exon1:c.T724C:p.C242R exonic ENSG00000181616 NA nonsynonymous SNV ENSG00000181616:ENST00000322653:exon1:c.T724C:p.C242R NA NA 11p15.4 NA NA NA NA rs1995158 0.87 0.87 0.864 0.890974 0.8002 0.9196 0.8415 0.941 0.9223 0.81 0.91 0.83 0.94 0.8361 0.94 1 T 0.0 B 0.0 B 0.013 N 1.000 P -2.5 N 9.45 T -0.956 T 0.000 T 0.019 -3.501 0.001 1.2 -0.255 -0.391 7.083 -3.501119 NA 1 0.807657 0.927079 NA 0.848 NA 4.8893764 1171 15 45453032 45453032 T C intronic DUOX1 NA NA NA ncRNA_intronic ENSG00000259539 NA NA NA Score=548;Name=lod=226 NA 15q21.1 NA NA NA NA rs3784584 0.25 0.25 0.249 0.288139 0.1272 0.4167 0.1816 0.2806 0.407 0.12 0.44 0.2 0.26 0.2019 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.555123 NA NA 0.11517 0.22384 ID=COSM147899;OCCURENCE=1(stomach) 0.217 NA 4.8890633 1171 11 1275592 1275592 G A intronic MUC5B NA NA NA intronic ENSG00000117983 NA NA NA NA NA 11p15.5 NA Name=ERalpha_a NA NA rs56088961 0.04 0.04 0.032 0.0505192 0.0388 0.002 0.0403 0.0832 0.0757 0.04 0.0017 0.05 0.08 0.0395 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 -1.041035 NA NA 0.032691 0.089031 NA NA NA 4.889009 1171 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 1171 3 195517321 195517321 G A exonic MUC4 NA nonsynonymous SNV MUC4:NM_018406:exon2:c.C1130T:p.T377I exonic ENSG00000145113 NA nonsynonymous SNV ENSG00000145113:ENST00000462323:exon2:c.C1130T:p.T377I,ENSG00000145113:ENST00000463781:exon2:c.C1130T:p.T377I,ENSG00000145113:ENST00000466475:exon2:c.C1130T:p.T377I,ENSG00000145113:ENST00000470451:exon2:c.C1130T:p.T377I,ENSG00000145113:ENST00000475231:exon2:c.C1130T:p.T377I,ENSG00000145113:ENST00000477086:exon2:c.C1130T:p.T377I,ENSG00000145113:ENST00000477756:exon2:c.C1130T:p.T377I,ENSG00000145113:ENST00000478156:exon2:c.C1130T:p.T377I,ENSG00000145113:ENST00000479406:exon2:c.C1130T:p.T377I,ENSG00000145113:ENST00000480843:exon2:c.C1130T:p.T377I NA NA 3q29 NA NA NA NA rs1104760 0.79 0.79 0.811 0.772165 0.84 0.8155 0.6787 0.8056 0.6789 0.84 0.78 0.68 0.82 0.7805 0.84 0.34 T 0.114 B 0.144 B 0.749 U 1.000 P . . 1.64 T -1.040 T 0.000 T 0.264 -0.427 2.013 -0.914 -0.201 0.100 4.535 -0.426706 NA 0.3 0.823998 0.825153 NA 0.833 NA 4.8888354 1171 1 57499275 57499275 A G intronic DAB1 NA NA NA intronic ENSG00000173406 NA NA NA Score=522;Name=lod=177 NA 1p32.2 NA NA NA NA rs17417626 0.02 0.02 0.014 0.0225639 0.0358 NA 0.0187 0.0121 0.0491 0.04 NA 0.01 0.02 0.0415 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 3.860872 3.860872 NA 0.033903 0.018836 NA 0.022 NA 4.888797 1171 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 1171 2 216242917 216242917 T A exonic FN1 NA synonymous SNV FN1:NM_212474:exon33:c.A5148T:p.G1716G,FN1:NM_212476:exon33:c.A5148T:p.G1716G,FN1:NM_002026:exon34:c.A5418T:p.G1806G,FN1:NM_212478:exon34:c.A5418T:p.G1806G,FN1:NM_212482:exon35:c.A5691T:p.G1897G exonic ENSG00000115414 NA synonymous SNV ENSG00000115414:ENST00000456923:exon10:c.A1569T:p.G523G,ENSG00000115414:ENST00000356005:exon33:c.A5148T:p.G1716G,ENSG00000115414:ENST00000357867:exon33:c.A5148T:p.G1716G,ENSG00000115414:ENST00000421182:exon33:c.A5148T:p.G1716G,ENSG00000115414:ENST00000443816:exon33:c.A5148T:p.G1716G,ENSG00000115414:ENST00000336916:exon34:c.A5418T:p.G1806G,ENSG00000115414:ENST00000345488:exon34:c.A5418T:p.G1806G,ENSG00000115414:ENST00000346544:exon34:c.A5418T:p.G1806G,ENSG00000115414:ENST00000357009:exon34:c.A5418T:p.G1806G,ENSG00000115414:ENST00000359671:exon34:c.A5418T:p.G1806G,ENSG00000115414:ENST00000432072:exon34:c.A5421T:p.G1807G,ENSG00000115414:ENST00000446046:exon34:c.A5418T:p.G1806G,ENSG00000115414:ENST00000323926:exon35:c.A5691T:p.G1897G,ENSG00000115414:ENST00000354785:exon35:c.A5691T:p.G1897G NA NA 2q35 NA NA NA NA rs1132741 0.39 0.39 0.352 0.324681 0.2505 0.7659 0.3919 0.0598 0.2566 0.25 0.83 0.38 0.08 0.2868 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 1.147627 NA NA 0.240698 0.090785 ID=COSM149058;OCCURENCE=1(stomach) 0.384 NA 4.8886686 1171 15 100331253 100331253 G A ncRNA_exonic DNM1P46 NA NA NA ncRNA_exonic ENSG00000182397 NA NA NA NA NA 15q26.3 NA Name=TCF4 Name=14 NA rs1060457 0.62 0.62 0.602 0.623802 0.5905 0.6786 0.4597 0.7292 0.5757 0.58 0.66 0.52 0.74 0.5896 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.116321 NA NA 0.597941 0.681507 NA 0.732 NA 4.8886256 1171 11 1275593 1275593 C A intronic MUC5B NA NA NA intronic ENSG00000117983 NA NA NA NA NA 11p15.5 NA Name=ERalpha_a NA NA rs56352092 0.04 0.04 0.033 0.0505192 0.0388 0.002 0.0403 0.0832 0.0757 0.04 0.0017 0.05 0.08 0.0395 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 -1.136062 NA NA 0.033151 0.089786 NA NA NA 4.888549 1171 19 4816719 4816719 G A exonic TICAM1 NA synonymous SNV TICAM1:NM_182919:exon2:c.C1671T:p.D557D exonic ENSG00000127666 NA synonymous SNV ENSG00000127666:ENST00000248244:exon2:c.C1671T:p.D557D NA NA 19p13.3 NA NA NA NA rs2292151 0.32 0.32 0.298 0.277556 0.2694 0.4345 0.33 0.1573 0.2495 0.3 0.45 0.32 0.18 0.2688 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659846 NA NA 0.24 0.176123 NA 0.21 NA 4.8884666 1171 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 1171 1 65310489 65310489 T C exonic JAK1 NA synonymous SNV JAK1:NM_002227:exon16:c.A2199G:p.P733P exonic ENSG00000162434 NA synonymous SNV ENSG00000162434:ENST00000342505:exon16:c.A2199G:p.P733P NA NA 1p31.3 NA NA NA NA rs2230588 0.35 0.35 0.369 0.372604 0.2525 0.2996 0.3199 0.6604 0.2198 0.24 0.25 0.31 0.67 0.2935 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 -0.623997 NA NA 0.232308 0.582037 NA 0.391 NA 4.8883586 1171 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 1171 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 1171 16 56401352 56401352 T C intronic AMFR NA NA NA intronic ENSG00000159461 NA NA NA NA NA 16q12.2 Score=900;Name=V$AREB6_01 NA NA NA rs77132693 0.05 0.05 0.039 0.0593051 0.0258 0.1389 0.0432 0.0189 0.0777 0.02 0.12 0.04 0.02 0.0489 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 2.015025 2.015025 NA 0.037907 0.035714 ID=COSM32771;OCCURENCE=1(breast) 0.014 NA 4.887393 1171 19 12989560 12989560 G A exonic DNASE2 NA synonymous SNV DNASE2:NM_001375:exon4:c.C435T:p.S145S exonic ENSG00000105612 NA synonymous SNV ENSG00000105612:ENST00000222219:exon4:c.C435T:p.S145S NA NA 19p13.2 NA NA NA NA rs2293682 0.36 0.36 0.357 0.370807 0.2435 0.6181 0.2853 0.2451 0.4775 0.24 0.67 0.25 0.26 0.3048 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 -1.036562 NA NA 0.231279 0.257376 ID=COSM1179780;OCCURENCE=1(prostate) 0.326 NA 4.8870876 1171 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 1171 2 192701453 192701453 C T intronic SDPR NA NA NA intronic ENSG00000168497 NA NA NA NA NA 2q32.3 NA NA Name=21 NA rs114763644 0.02 0.02 0.023 0.0179712 0.0348 NA 0.0259 0.0144 0.0184 0.04 NA 0.04 0.01 0.0348 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 0.952589 NA NA 0.043382 0.011306 NA 0.014 NA 4.887018 1171 1 24201262 24201262 A G exonic CNR2 NA synonymous SNV CNR2:NM_001841:exon2:c.T846C:p.A282A exonic ENSG00000188822 NA synonymous SNV ENSG00000188822:ENST00000374472:exon2:c.T846C:p.A282A,ENSG00000188822:ENST00000536471:exon3:c.T846C:p.A282A Score=615;Name=lod=422 NA 1p36.11 NA NA NA NA rs2502993 0.63 0.63 0.687 0.653355 0.5875 0.502 0.6383 0.7943 0.6973 0.59 0.55 0.64 0.8 0.619 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 1.114143 NA NA 0.573721 0.751248 ID=COSM146445;OCCURENCE=1(stomach) 0.754 NA 4.8864456 1171 6 33053026 33053026 C A intronic HLA-DPB1 NA NA NA intronic ENSG00000223865 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs9277457 0.14 0.14 NA 0.135583 0.0437 0.005 0.0432 0.4062 0.0644 0.05 0.02 0.05 0.49 0.0699 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.574542 NA NA NA NA NA 0.138 NA 4.8864 1171 12 124197280 124197280 A C intronic ATP6V0A2 NA NA NA intronic ENSG00000185344 NA NA NA NA NA 12q24.31 NA Name=ZNF263,HA-E2F1,Pol2 Name=9 NA rs66647364 0.31 0.31 0.307 0.327077 0.3757 0.0625 0.2983 0.5295 0.2965 0.38 0.06 0.31 0.52 0.361 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.033999 NA NA 0.376997 0.483849 NA 0.196 NA 4.886303 1171 17 42084097 42084097 C G intronic NAGS NA NA NA intronic ENSG00000161653 NA NA NA NA NA 17q21.31 NA Name=CEBPB,Max,HMGN3,Pol2,E2F6,E2F6_(H-50) Name=148 NA rs228771 0.21 0.21 0.164 0.188498 0.4334 0.0268 0.2824 0.0182 0.2669 0.43 0.01 0.31 0.02 0.3194 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040819 NA NA 0.360906 0.071989 NA 0.188 NA 4.886294 1171 2 38298150 38298150 A G exonic CYP1B1 NA synonymous SNV CYP1B1:NM_000104:exon3:c.T1347C:p.D449D exonic ENSG00000138061 NA synonymous SNV ENSG00000138061:ENST00000260630:exon3:c.T1347C:p.D449D,ENSG00000138061:ENST00000407341:exon3:c.T1347C:p.D449D NA NA 2p22.2 NA NA Name=9 NA rs1056837 0.62 0.62 0.564 0.620208 0.6024 0.9087 0.7277 0.2012 0.8313 0.63 0.91 0.69 0.23 0.622 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 -1.332136 NA NA 0.556047 0.253972 NA 0.435 NA 4.8862196 1171 17 7221385 7221385 G A exonic NEURL4 NA synonymous SNV NEURL4:NM_001005408:exon25:c.C4053T:p.P1351P,NEURL4:NM_032442:exon25:c.C4059T:p.P1353P exonic ENSG00000215041,ENSG00000261915 NA synonymous SNV ENSG00000215041:ENST00000570460:exon24:c.C3987T:p.P1329P,ENSG00000215041:ENST00000315614:exon25:c.C4053T:p.P1351P,ENSG00000215041:ENST00000399464:exon25:c.C4059T:p.P1353P Score=586;Name=lod=320 NA 17p13.1 NA NA NA NA rs1127440 0.7 0.7 0.686 0.705272 0.5666 0.9286 0.7522 0.5953 0.7331 0.57 0.94 0.72 0.62 0.6311 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 -0.043037 NA NA 0.583393 0.600973 ID=COSM437294,COSM437295;OCCURENCE=1(breast),1(large_intestine) 0.645 NA 4.8855736 1171 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 1171 3 66433676 66433676 A G exonic LRIG1 NA synonymous SNV LRIG1:NM_015541:exon15:c.T2221C:p.L741L exonic ENSG00000144749 NA synonymous SNV ENSG00000144749:ENST00000273261:exon15:c.T2221C:p.L741L,ENSG00000144749:ENST00000383703:exon16:c.T2152C:p.L718L Score=455;Name=lod=94 NA 3p14.1 NA NA NA NA rs900171 0.7 0.7 0.694 0.694489 0.5974 0.8036 0.6441 0.7247 0.6769 0.61 0.8 0.65 0.74 0.6227 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 0.929116 NA NA 0.561395 0.700635 NA 0.71 NA 4.8851716 1172 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 1172 9 126128679 126128679 G C intronic CRB2 NA NA NA intronic ENSG00000148204 NA NA NA NA NA 9q33.3 NA Name=CTCF,TCF12 Name=6 NA rs11790447 0.33 0.33 0.325 0.322883 0.3807 0.3919 0.3357 0.2156 0.3282 0.39 0.34 0.37 0.19 0.3686 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.260066 NA NA 0.36625 0.220351 NA 0.196 NA 4.88445 1172 22 40054948 40054948 T C exonic CACNA1I NA synonymous SNV CACNA1I:NM_001003406:exon11:c.T2052C:p.I684I,CACNA1I:NM_021096:exon12:c.T2157C:p.I719I exonic ENSG00000100346 NA synonymous SNV ENSG00000100346:ENST00000404898:exon11:c.T2052C:p.I684I,ENSG00000100346:ENST00000407673:exon11:c.T2052C:p.I684I,ENSG00000100346:ENST00000401624:exon12:c.T2157C:p.I719I,ENSG00000100346:ENST00000402142:exon12:c.T2157C:p.I719I,ENSG00000100346:ENST00000400164:exon14:c.T2052C:p.I684I,ENSG00000100346:ENST00000336649:exon15:c.T2175C:p.I725I Score=525;Name=lod=182 NA 22q13.1 NA NA NA NA rs5757761 0.75 0.75 0.729 0.748403 0.5567 0.994 0.7392 0.8328 0.5849 0.55 1 0.7 0.8 0.6826 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.950523 NA NA 0.54357 0.790443 ID=COSM1130430;OCCURENCE=1(prostate) 0.725 NA 4.8837966 1172 20 10019093 10019093 A G exonic ANKEF1 NA synonymous SNV ANKEF1:NM_198798:exon2:c.A144G:p.G48G,ANKEF1:NM_022096:exon3:c.A144G:p.G48G exonic ENSG00000132623 NA synonymous SNV ENSG00000132623:ENST00000378380:exon2:c.A144G:p.G48G,ENSG00000132623:ENST00000378392:exon3:c.A144G:p.G48G NA NA 20p12.2 Score=818;Name=V$SRF_C NA NA NA rs575534 0.47 0.47 0.541 0.565495 0.6024 0.3145 0.5245 0.7526 0.5624 0.51 0.27 0.54 0.61 0.5759 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.823104 NA NA 0.605116 0.722424 NA 0.529 NA 4.8832506 1172 4 71339728 71339728 C T UTR5 MUC7 NM_001145006:c.-11C>T,NM_001145007:c.-11C>T,NM_152291:c.-11C>T NA NA UTR5 ENSG00000171195 ENST00000413702:c.-11C>T,ENST00000456088:c.-11C>T,ENST00000505411:c.-11C>T,ENST00000304887:c.-11C>T NA NA NA NA 4q13.3 NA NA Name=13 NA rs2306948 0.18 0.18 0.176 0.208666 0.1252 0.2044 0.1354 0.2844 0.2485 0.13 0.18 0.12 0.28 0.169 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.49906 1.49906 NA 0.156163 0.274626 NA 0.174 NA 4.8829704 1172 11 117965530 117965530 A G splicing TMPRSS4 NM_001083947:exon2:c.4-1A>G,NM_019894:exon2:c.4-1A>G NA NA splicing ENSG00000137648 ENST00000437212:exon2:c.4-1A>G,ENST00000522824:exon2:c.4-1A>G NA NA NA NA 11q23.3 NA NA NA NA rs2276122 0.29 0.29 0.283 0.306709 0.3499 0.3502 0.402 0.0408 0.5092 0.35 0.4 0.32 0.05 0.4003 0.4 . . . . . . . . 0.999 P . . . . . . . . . 0.6 7.233 0.624 0.329 0.032 1.364 0.599624 NA NA 0.367086 0.110227 NA 0.181 NA 4.882714 1172 11 58391501 58391501 G A ncRNA_intronic ZFP91-CNTF NA NA NA intronic ENSG00000242689,ENSG00000255073 NA NA NA Score=420;Name=lod=68 NA 11q12.1 NA NA NA NA rs1800169 0.12 0.12 0.095 0.123403 0.16 0.119 0.1772 0.0363 0.1697 0.16 0.13 0.17 0.04 0.1484 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.912072 1.912072 NA 0.142608 0.056338 NA 0.101 NA 4.8823253 1172 7 97863145 97863145 G A exonic TECPR1 NA synonymous SNV TECPR1:NM_015395:exon11:c.C1260T:p.V420V exonic ENSG00000205356 NA synonymous SNV ENSG00000205356:ENST00000542604:exon10:c.C1050T:p.V350V,ENSG00000205356:ENST00000379795:exon11:c.C1260T:p.V420V,ENSG00000205356:ENST00000447648:exon11:c.C1260T:p.V420V NA NA 7q21.3 NA NA NA NA rs2291750 0.28 0.28 0.276 0.298722 0.2266 0.4266 0.1945 0.1982 0.4509 0.22 0.45 0.2 0.22 0.3329 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373637 NA NA 0.225476 0.192522 NA 0.312 NA 4.8816906 1172 12 8386871 8386871 C G ncRNA_splicing FAM86FP NR_024254:exon5:c.584+1G>C NA NA ncRNA_splicing ENSG00000164845 ENST00000338711:exon8:c.875+1G>C NA NA Score=251;Name=lod=14 NA 12p13.31 NA NA NA NA rs2968742 0.76 0.76 0.679 0.734026 0.7853 0.8581 0.6945 0.6127 0.7454 0.79 0.89 0.73 0.6 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 0.133355 NA NA NA NA NA 0.051 NA 4.8813666 1172 7 135261009 135261009 C G intronic NUP205 NA NA NA intronic ENSG00000155561 NA NA NA NA NA 7q33 Score=887;Name=V$TATA_C NA NA NA rs12539427 0.03 0.03 0.025 0.0349441 0.0457 0.003 0.049 0.0333 0.0491 0.04 0.0035 0.05 0.03 0.0331 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 2.018604 2.018604 NA 0.039884 0.033818 NA 0.065 NA 4.881316 1172 2 103001402 103001402 C T exonic IL18R1 NA synonymous SNV IL18R1:NM_003855:exon6:c.C753T:p.F251F exonic ENSG00000115604 NA synonymous SNV ENSG00000115604:ENST00000233957:exon6:c.C753T:p.F251F,ENSG00000115604:ENST00000410040:exon7:c.C753T:p.F251F,ENSG00000115604:ENST00000409599:exon8:c.C753T:p.F251F NA NA 2q12.1 NA NA NA NA rs1035130 0.26 0.26 0.232 0.25639 0.2505 0.4196 0.1888 0.1422 0.2965 0.25 0.42 0.21 0.11 0.2632 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330821 NA NA 0.272442 0.156832 NA 0.268 NA 4.8805246 1172 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 1172 19 42221607 42221607 A G exonic CEACAM5 NA nonsynonymous SNV CEACAM5:NM_004363:exon5:c.A1192G:p.K398E exonic ENSG00000105388 NA nonsynonymous SNV ENSG00000105388:ENST00000221992:exon5:c.A1192G:p.K398E,ENSG00000105388:ENST00000398599:exon5:c.A1189G:p.K397E,ENSG00000105388:ENST00000405816:exon5:c.A1192G:p.K398E NA NA 19q13.2 NA NA NA NA rs7249230 0.87 0.87 0.882 0.897165 0.7982 0.8274 0.8876 0.9992 0.9397 0.81 0.83 0.88 1 0.8467 1 0.25 T 0.0 B 0.002 B . . 1.000 P 0.16 N -0.15 T -1.009 T 0.000 T 0.024 -0.538 1.556 1.35 -0.058 -0.007 5.239 -0.537845 NA 0.11 0.808721 0.967317 NA 0.899 NA 4.8797124 1172 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 1172 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 1172 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 1172 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 1172 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 1172 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 1172 3 12613866 12613866 T C exonic MKRN2 NA synonymous SNV MKRN2:NM_001271707:exon3:c.T507C:p.H169H,MKRN2:NM_014160:exon4:c.T636C:p.H212H exonic ENSG00000075975 NA synonymous SNV ENSG00000075975:ENST00000411987:exon3:c.T507C:p.H169H,ENSG00000075975:ENST00000170447:exon4:c.T636C:p.H212H,ENSG00000075975:ENST00000448482:exon4:c.T630C:p.H210H Score=551;Name=lod=231 NA 3p25.2 NA NA NA NA rs2648307 0.58 0.58 0.59 0.547724 0.6153 0.126 0.6585 0.9592 0.2781 0.63 0.1 0.72 0.97 0.57 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 0.079465 NA NA 0.602558 0.894916 NA 0.688 NA 4.8788086 1172 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 1172 13 113052388 113052388 A G exonic SPACA7 NA synonymous SNV SPACA7:NM_145248:exon3:c.A177G:p.L59L exonic ENSG00000153498 NA synonymous SNV ENSG00000153498:ENST00000375699:exon2:c.A84G:p.L28L,ENSG00000153498:ENST00000283550:exon3:c.A177G:p.L59L,ENSG00000153498:ENST00000443541:exon4:c.A135G:p.L45L,ENSG00000153498:ENST00000414180:exon5:c.A141G:p.L47L NA NA 13q34 NA NA Name=3 NA rs2296895 0.61 0.61 0.604 0.67472 0.5696 0.624 0.6196 0.8154 0.684 0.53 0.55 0.64 0.75 0.6307 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 -0.0947 NA NA 0.588762 0.786201 ID=COSM1179756;OCCURENCE=1(prostate) 0.783 NA 4.8776046 1172 11 125851055 125851055 A G exonic CDON NA synonymous SNV CDON:NM_001243597:exon17:c.T3165C:p.N1055N,CDON:NM_016952:exon17:c.T3165C:p.N1055N exonic ENSG00000064309 NA synonymous SNV ENSG00000064309:ENST00000531738:exon8:c.T1296C:p.N432N,ENSG00000064309:ENST00000263577:exon17:c.T3165C:p.N1055N,ENSG00000064309:ENST00000392693:exon17:c.T3165C:p.N1055N NA NA 11q24.2 NA NA NA NA rs564214 0.25 0.25 0.266 0.268171 0.2604 0.0665 0.2161 0.497 0.2117 0.28 0.07 0.18 0.46 0.2582 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.222286 NA NA 0.270528 0.457974 NA 0.283 NA 4.8775386 1172 2 42990522 42990522 C T exonic OXER1 NA synonymous SNV OXER1:NM_148962:exon1:c.G798A:p.A266A exonic ENSG00000162881 NA synonymous SNV ENSG00000162881:ENST00000378661:exon1:c.G798A:p.A266A NA NA 2p21 NA NA NA NA rs12712859 0.33 0.33 0.317 0.342252 0.2396 0.5913 0.2363 0.236 0.41 0.23 0.62 0.23 0.22 0.3409 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332652 NA NA 0.208653 0.252498 NA 0.319 NA 4.8775136 1172 3 87295049 87295049 T C exonic CHMP2B NA synonymous SNV CHMP2B:NM_001244644:exon2:c.T189C:p.T63T,CHMP2B:NM_014043:exon3:c.T312C:p.T104T exonic ENSG00000083937 NA synonymous SNV ENSG00000083937:ENST00000471660:exon2:c.T189C:p.T63T,ENSG00000083937:ENST00000263780:exon3:c.T312C:p.T104T Score=506;Name=lod=152 NA 3p11.2 NA NA NA NA rs11540913 0.84 0.84 0.816 0.815695 0.9384 0.9127 0.9352 0.5015 0.9294 0.95 0.89 0.93 0.55 0.906 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 0.909195 NA NA 0.944767 0.577394 NA 0.833 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000084272.1;CLNDSDB=.;CLNDSDBID=. 4.8774996 1172 2 96804107 96804107 G A intronic ASTL NA NA NA intronic ENSG00000188886 NA NA NA NA NA 2q11.2 NA Name=Pol2-4H8 NA NA rs72825845 0.02 0.02 0.022 0.029353 0.0368 0.0119 0.0303 0.0408 0.0235 0.03 0.01 0.03 0.02 0.0445 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 0.24233 NA NA 0.041259 0.025968 NA 0.065 NA 4.877441 1172 2 192214966 192214966 T C intronic MYO1B NA NA NA intronic ENSG00000128641 NA NA NA NA NA 2q32.3 NA Name=CTCF Name=3 NA rs59642822 0.34 0.34 0.312 0.354633 0.3668 0.3115 0.3343 0.2716 0.5133 0.36 0.32 0.4 0.27 0.377 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674765 NA 0 0.378925 0.280073 NA 0.428 NA 4.877275 1172 20 39986851 39986851 C T intronic LPIN3 NA NA NA intronic ENSG00000132793 NA NA NA NA NA 20q12 NA Name=CTCF NA NA rs41277022 0.02 0.02 0.017 0.014377 0.0437 NA 0.013 0.0045 0.0133 0.05 NA 0.02 0.01 0.033 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 0.43278 NA NA 0.046047 0.01044 NA 0.014 NA 4.877253 1172 16 14013993 14013993 T A upstream ERCC4 NA NA NA upstream ENSG00000175595 NA NA NA NA NA 16p13.12 NA Name=TCF12,Pol2(phosphoS2),Pol2,CHD2_(N-1250),HA-E2F1,ELF1_(SC-631),HEY1,NFKB,TAF1,GABP,Pol2-4H8,Sin3Ak-20,PAX5-C20,YY1_(C-20),c-Myc,CTCFL_(SC-98982),TR4,TBP,YY1 Name=148 NA rs1799797 0.21 0.21 0.197 0.220447 0.2763 0.2659 0.1254 0.18 0.2382 0.25 0.26 0.14 0.15 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 1.194919 NA NA 0.269384 0.162305 NA 0.254 NA 4.8770826 1172 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 1172 2 136552371 136552371 A G intronic LCT NA NA NA intronic ENSG00000115850 NA NA NA NA NA 2q21.3 NA NA Name=25 NA rs3213891 0.07 0.07 0.056 0.0716853 0.0388 0.1895 0.0807 NA 0.0746 0.04 0.17 0.07 NA 0.0511 0.17 NA NA 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 0.033488 0.003858 NA 0.051 NA 4.876612 1172 1 150531008 150531008 T C exonic ADAMTSL4 NA synonymous SNV ADAMTSL4:NM_019032:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_025008:exon15:c.T2442C:p.N814N exonic ENSG00000143382 NA synonymous SNV ENSG00000143382:ENST00000369038:exon13:c.T2442C:p.N814N,ENSG00000143382:ENST00000271643:exon15:c.T2442C:p.N814N,ENSG00000143382:ENST00000369039:exon15:c.T2511C:p.N837N,ENSG00000143382:ENST00000369041:exon15:c.T2442C:p.N814N Score=369;Name=lod=42 NA 1q21.3 Score=827;Name=V$CART1_01 NA NA NA rs10888382 0.84 0.84 0.82 0.814497 0.9314 0.8373 0.9049 0.6475 0.8323 0.94 0.89 0.91 0.6 0.9067 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196519 NA NA 0.952209 0.702224 NA 0.833 NA 4.8763576 1172 2 216982452 216982452 A G intronic XRCC5 NA NA NA intronic ENSG00000079246 NA NA NA NA NA 2q35 NA NA Name=26 NA rs28371548 0.03 0.03 0.023 0.0167732 0.0457 NA 0.0432 0.003 0.0041 0.06 NA 0.05 0.01 0.0317 0.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.8851 1.8851 NA 0.046279 0.007717 NA 0.022 NA 4.876321 1172 17 6381939 6381939 G A exonic PITPNM3 NA synonymous SNV PITPNM3:NM_001165966:exon6:c.C597T:p.T199T,PITPNM3:NM_031220:exon7:c.C705T:p.T235T exonic ENSG00000091622 NA synonymous SNV ENSG00000091622:ENST00000421306:exon6:c.C597T:p.T199T,ENSG00000091622:ENST00000262483:exon7:c.C705T:p.T235T NA NA 17p13.2 Score=816;Name=V$RFX1_02 NA NA NA rs938288 0.42 0.42 0.401 0.382388 0.6322 0.2421 0.4697 0.2428 0.3967 0.63 0.23 0.5 0.25 0.5277 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.260344 NA NA 0.631047 0.292556 NA 0.457 NA 4.8757196 1172 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 1172 17 4875566 4875566 T C exonic CAMTA2 NA synonymous SNV CAMTA2:NM_001171166:exon15:c.A2775G:p.P925P,CAMTA2:NM_001171168:exon15:c.A2766G:p.P922P,CAMTA2:NM_001171167:exon16:c.A2838G:p.P946P,CAMTA2:NM_015099:exon16:c.A2769G:p.P923P exonic ENSG00000108509 NA synonymous SNV ENSG00000108509:ENST00000361571:exon15:c.A2766G:p.P922P,ENSG00000108509:ENST00000381311:exon15:c.A2775G:p.P925P,ENSG00000108509:ENST00000348066:exon16:c.A2769G:p.P923P,ENSG00000108509:ENST00000358183:exon16:c.A2769G:p.P923P,ENSG00000108509:ENST00000414043:exon16:c.A2838G:p.P946P,ENSG00000108509:ENST00000572543:exon16:c.A2784G:p.P928P Score=284;Name=lod=19 NA 17p13.2 NA NA NA NA rs238230 0.59 0.59 0.592 0.576877 0.5875 0.4028 0.6599 0.7882 0.4008 0.58 0.39 0.67 0.8 0.5839 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 -0.099628 NA NA 0.620233 0.77803 NA 0.63 NA 4.8750336 1173 3 57857439 57857439 A G intronic SLMAP NA NA NA intronic ENSG00000163681 NA NA NA Score=662;Name=lod=655 NA 3p14.3 NA NA NA NA rs111294347 0.02 0.02 0.017 0.0147764 0.0417 0.002 0.0288 0.0023 0.0072 0.04 0.0017 0.04 0.01 0.0331 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 3.636231 3.636231 NA 0.050593 0.01044 NA 0.036 NA 4.874607 1173 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$ATF6_01 NA NA NA rs2680903 0.94 0.94 0.947 0.929313 0.9294 0.9792 0.9352 0.8585 0.9693 0.93 0.98 0.94 0.9 0.9309 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.185913 NA NA 0.932442 0.879256 NA 0.855 NA 4.8739246 1173 14 94772504 94772504 G A exonic SERPINA6 NA synonymous SNV SERPINA6:NM_001756:exon4:c.C936T:p.L312L exonic ENSG00000170099 NA synonymous SNV ENSG00000170099:ENST00000341584:exon4:c.C936T:p.L312L NA NA 14q32.13 NA NA NA NA rs1042394 0.19 0.19 0.191 0.16274 0.3002 0.0595 0.1441 0.1672 0.135 0.31 0.08 0.16 0.17 0.2231 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078495 NA NA 0.269767 0.182932 NA 0.167 NA 4.8735996 1173 20 18143355 18143355 C T exonic CSRP2BP NA synonymous SNV CSRP2BP:NM_020536:exon6:c.C1437T:p.P479P exonic ENSG00000149474 NA synonymous SNV ENSG00000149474:ENST00000489634:exon5:c.C1053T:p.P351P,ENSG00000149474:ENST00000435364:exon6:c.C1437T:p.P479P,ENSG00000149474:ENST00000278816:exon7:c.C1437T:p.P479P,ENSG00000149474:ENST00000377681:exon7:c.C1434T:p.P478P NA NA 20p11.23 NA NA NA NA rs1205194 0.29 0.29 0.284 0.28774 0.2575 0.498 0.2651 0.0688 0.4141 0.27 0.53 0.24 0.09 0.2879 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694306 NA NA 0.247791 0.100772 NA 0.254 NA 4.8734756 1173 2 75113789 75113789 C G exonic HK2 NA synonymous SNV HK2:NM_000189:exon15:c.C2208G:p.P736P exonic ENSG00000159399 NA synonymous SNV ENSG00000159399:ENST00000290573:exon15:c.C2208G:p.P736P,ENSG00000159399:ENST00000409174:exon15:c.C2124G:p.P708P NA NA 2p12 Score=769;Name=V$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 1173 X 100615023 100615023 T G intronic BTK NA NA NA intronic ENSG00000010671 NA NA NA NA NA Xq22.1 NA NA Name=18 NA rs2746110 0.3 0.3 0.20429 NA NA NA NA NA NA 0.21 0.37 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 -1.394505 NA NA 0.127143 0.200165 NA 0.043 NA 4.872857 1173 13 95727861 95727861 G A intronic ABCC4 NA NA NA intronic ENSG00000125257 NA NA NA NA NA 13q32.1 NA NA Name=8 NA rs11568672 0.07 0.07 0.057 0.0591054 0.1272 0.001 0.183 0.0023 0.0378 0.12 NA 0.15 0.0041 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 -0.905362 NA NA NA NA NA 0.029 NA 4.8728 1173 22 18913277 18913277 C G intronic PRODH NA NA NA intronic ENSG00000100033 NA NA NA NA NA 22q11.21 NA NA Name=2 NA rs111404325 0.07 0.07 0.073 0.0656949 0.0477 0.0298 0.0533 0.1536 0.0112 0.05 0.02 0.05 0.17 0.0429 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.339285 NA NA 0.036628 0.136178 NA 0.087 NA 4.872772 1173 3 108719470 108719470 C G exonic MORC1 NA synonymous SNV MORC1:NM_014429:exon21:c.G2121C:p.L707L exonic ENSG00000114487 NA synonymous SNV ENSG00000114487:ENST00000483760:exon20:c.G2058C:p.L686L,ENSG00000114487:ENST00000232603:exon21:c.G2121C:p.L707L NA NA 3q13.13 NA NA NA NA rs3762698 0.2 0.2 0.198 0.207268 0.2694 0.0278 0.2003 0.2693 0.2495 0.28 0.03 0.23 0.26 0.2431 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585291 NA NA 0.281693 0.287108 NA 0.159 NA 4.8724736 1173 6 152675854 152675854 A G exonic SYNE1 NA synonymous SNV SYNE1:NM_182961:exon67:c.T10866C:p.S3622S exonic ENSG00000131018 NA synonymous SNV ENSG00000131018:ENST00000265368:exon67:c.T10866C:p.S3622S,ENSG00000131018:ENST00000367255:exon67:c.T10866C:p.S3622S,ENSG00000131018:ENST00000341594:exon70:c.T10779C:p.S3593S NA NA 6q25.2 NA NA NA NA rs9397102 0.6 0.6 0.587 0.568291 0.6014 0.6171 0.6196 0.5136 0.5215 0.61 0.61 0.62 0.55 0.5799 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.311242 NA NA 0.613256 0.518611 NA 0.645 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118433.2;CLNDSDB=.;CLNDSDBID=. 4.8721106 1173 19 12975608 12975608 T C intronic MAST1 NA NA NA intronic ENSG00000105613 NA NA NA NA NA 19p13.2 NA Name=FOXA1_(SC-101058),CTCF,TCF4,Rad21,CEBPB NA NA rs7256794 0.05 0.05 0.053 0.0495208 0.0487 0.0188 0.0418 0.0877 0.0358 0.04 0.03 0.04 0.11 0.037 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 0.450288 NA NA 0.042209 0.079891 NA 0.051 NA 4.872091 1173 8 27288314 27288314 T C intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA NA NA 8p21.2 NA NA Name=3 NA rs56373327 0.11 0.11 0.113 0.105232 0.1282 0.0456 0.0965 0.1619 0.0726 0.14 0.05 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 0.888267 NA NA NA NA NA 0.087 NA 4.8718 1173 12 124172731 124172731 G A intronic TCTN2 NA NA NA intronic ENSG00000168778 NA NA NA NA NA 12q24.31 NA Name=BCL11A,MEF2A,NFKB,IRF4_(M-17),BATF,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 1173 2 74725144 74725144 T C exonic LBX2 NA synonymous SNV LBX2:NM_001009812:exon2:c.A495G:p.E165E exonic ENSG00000179528 NA synonymous SNV ENSG00000179528:ENST00000377566:exon2:c.A507G:p.E169E,ENSG00000179528:ENST00000460508:exon2:c.A495G:p.E165E NA NA 2p13.1 NA Name=ELF1_(SC-631),Pol2,SUZ12 Name=19 NA rs6546908 0.97 0.97 0.956 0.971246 0.9254 1 0.9553 0.9932 0.9703 0.94 1 0.93 0.99 0.9468 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346929 NA NA 0.923122 0.985922 NA 0.826 NA 4.8713446 1173 19 18108956 18108956 C G intronic KCNN1 NA NA NA ncRNA_intronic ENSG00000105642 NA NA NA NA NA 19p13.11 NA Name=E2F6_(H-50),Pol2,Pol2-4H8,TAF1 Name=50 NA rs4808732 0.52 0.52 0.513 0.52496 0.4751 0.6597 0.3314 0.5809 0.499 0.48 0.64 0.36 0.57 0.5034 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121872 NA NA 0.483489 0.568465 NA 0.507 NA 4.8713443 1173 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 1173 19 58439306 58439306 G A exonic ZNF418 NA synonymous SNV ZNF418:NM_133460:exon4:c.C243T:p.A81A exonic ENSG00000196724 NA synonymous SNV ENSG00000196724:ENST00000595830:exon3:c.C243T:p.A81A,ENSG00000196724:ENST00000396147:exon4:c.C243T:p.A81A,ENSG00000196724:ENST00000593296:exon4:c.C246T:p.A82A,ENSG00000196724:ENST00000425570:exon5:c.C306T:p.A102A,ENSG00000196724:ENST00000601593:exon5:c.C246T:p.A82A NA NA 19q13.43 NA NA NA NA rs7253514 0.32 0.32 0.301 0.289137 0.2545 0.4048 0.3573 0.2595 0.1973 0.26 0.46 0.32 0.26 0.2835 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121788 NA NA 0.258023 0.241943 NA 0.21 NA 4.8706436 1173 9 114982549 114982549 C T exonic PTBP3 NA nonsynonymous SNV PTBP3:NM_001244897:exon14:c.G1547A:p.S516N UTR3 ENSG00000119314 ENST00000458258:c.*3582G>A,ENST00000334318:c.*3582G>A,ENST00000374257:c.*3582G>A NA NA NA NA 9q32 NA NA Name=3 NA rs7869523 0.53 0.53 0.561 0.567292 0.4722 0.3948 0.451 0.8676 0.5194 0.48 0.35 0.46 0.87 0.5296 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 -0.289124 NA 0 0.461055 0.792237 NA 0.674 NA 4.8704784 1173 1 110155524 110155524 T C UTR5 GNAT2 NM_005272:c.-32A>G NA NA UTR5 ENSG00000134183 ENST00000351050:c.-32A>G NA NA NA NA 1p13.3 NA Name=PU.1 NA NA rs2304355 0.11 0.11 0.085 0.120607 0.1431 0.1091 0.1225 0.0567 0.1943 0.14 0.1 0.15 0.06 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 1.597694 1.597694 NA 0.167209 0.069678 NA 0.094 NA 4.8704244 1173 3 38519424 38519424 A G exonic ACVR2B NA synonymous SNV ACVR2B:NM_001106:exon3:c.A333G:p.E111E exonic ENSG00000114739 NA synonymous SNV ENSG00000114739:ENST00000352511:exon3:c.A333G:p.E111E Score=609;Name=lod=399 NA 3p22.2 NA NA NA NA rs2070489 0.48 0.48 0.449 0.480431 0.6153 0.4425 0.4914 0.3109 0.6022 0.61 0.45 0.46 0.33 0.5683 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.780818 NA NA 0.613372 0.345892 NA 0.486 NA 4.8696946 1173 5 126746277 126746277 C T exonic MEGF10 NA synonymous SNV MEGF10:NM_001256545:exon9:c.C1114T:p.L372L,MEGF10:NM_032446:exon10:c.C1114T:p.L372L exonic ENSG00000145794 NA synonymous SNV ENSG00000145794:ENST00000503335:exon9:c.C1114T:p.L372L,ENSG00000145794:ENST00000508365:exon9:c.C1114T:p.L372L,ENSG00000145794:ENST00000274473:exon10:c.C1114T:p.L372L,ENSG00000145794:ENST00000418761:exon10:c.C1114T:p.L372L Score=526;Name=lod=183 NA 5q23.2 NA Name=E2F6 NA NA rs31483 0.97 0.97 0.97 0.973442 0.9324 1 0.9568 0.9977 0.9673 0.93 1 0.95 1 0.9447 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.861138 NA NA 0.919884 0.98207 NA 0.92 NA 4.8696826 1173 10 112748802 112748802 A G intronic SHOC2 NA NA NA intronic ENSG00000108061 NA NA NA NA NA 10q25.2 NA NA Name=44 NA rs60633872 0.05 0.05 0.057 0.0441294 0.0477 0.001 0.0288 0.1074 0.0102 0.05 0.0017 0.03 0.12 0.0382 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 0.062694 NA NA 0.044451 0.114231 NA 0.036 NA 4.869649 1173 1 109363232 109363232 T C exonic AKNAD1 NA synonymous SNV AKNAD1:NM_152763:exon14:c.A2184G:p.K728K exonic ENSG00000162641 NA synonymous SNV ENSG00000162641:ENST00000370001:exon14:c.A2184G:p.K728K NA NA 1p13.3 NA NA NA NA rs1333130 0.39 0.39 0.382 0.386382 0.2565 0.6974 0.3919 0.2617 0.364 0.26 0.7 0.36 0.26 0.3105 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 -1.247847 NA NA 0.230581 0.275987 NA 0.246 NA 4.8690856 1173 13 42764564 42764564 C G exonic DGKH NA synonymous SNV DGKH:NM_001204505:exon14:c.C1530G:p.P510P,DGKH:NM_001204506:exon14:c.C1530G:p.P510P,DGKH:NM_152910:exon16:c.C1938G:p.P646P,DGKH:NM_178009:exon16:c.C1938G:p.P646P,DGKH:NM_001204504:exon17:c.C1938G:p.P646P exonic ENSG00000102780 NA synonymous SNV ENSG00000102780:ENST00000538674:exon11:c.C1203G:p.P401P,ENSG00000102780:ENST00000536612:exon14:c.C1530G:p.P510P,ENSG00000102780:ENST00000261491:exon16:c.C1938G:p.P646P,ENSG00000102780:ENST00000337343:exon16:c.C1938G:p.P646P,ENSG00000102780:ENST00000379274:exon16:c.C1530G:p.P510P,ENSG00000102780:ENST00000540693:exon17:c.C1938G:p.P646P NA NA 13q14.11 NA NA NA NA rs7324235 0.19 0.19 0.165 0.173922 0.2624 0.0942 0.2666 0.0643 0.2474 0.28 0.09 0.27 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 0.374285 NA NA 0.271163 0.100999 ID=COSM1366930;OCCURENCE=1(large_intestine) 0.174 NA 4.8688036 1173 14 65510971 65510971 C T intronic CHURC1-FNTB,FNTB,MAX NA NA NA intronic ENSG00000125952,ENSG00000125954,ENSG00000257365 NA NA NA NA NA 14q23.3 NA NA Name=4 NA rs45565742 0.08 0.08 0.051 0.0648962 0.1312 0.006 0.196 0.0068 0.0429 0.13 0.0035 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 0.547948 NA NA NA NA NA 0.196 NA 4.8688 1173 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 1173 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 1173 19 9072296 9072296 G T exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.C15150A:p.T5050T exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C15150A:p.T5050T NA NA 19p13.2 NA NA NA NA rs7254970 0.16 0.16 0.164 0.16853 0.2634 0.0089 0.1844 0.171 0.2209 0.27 0.01 0.2 0.14 0.2423 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.158193 NA NA 0.292883 0.169821 NA 0.138 NA 4.8680836 1173 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 1173 1 111726869 111726869 G A exonic CEPT1 NA synonymous SNV CEPT1:NM_001007794:exon9:c.G1188A:p.A396A,CEPT1:NM_006090:exon9:c.G1188A:p.A396A exonic ENSG00000134255 NA synonymous SNV ENSG00000134255:ENST00000357172:exon9:c.G1188A:p.A396A,ENSG00000134255:ENST00000545121:exon9:c.G1188A:p.A396A NA NA 1p13.3 NA NA NA NA rs3795823 0.22 0.22 0.201 0.189297 0.2823 0.3294 0.1787 0.0257 0.1779 0.28 0.32 0.19 0.04 0.2421 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621968 NA NA 0.274767 0.073309 NA 0.145 NA 4.8674996 1173 6 32713030 32713030 T C exonic HLA-DQA2 NA synonymous SNV HLA-DQA2:NM_020056:exon2:c.T177C:p.Y59Y exonic ENSG00000237541 NA synonymous SNV ENSG00000237541:ENST00000374940:exon2:c.T177C:p.Y59Y Score=429;Name=lod=74 NA 6p21.32 NA NA NA NA rs3208181 0.64 0.64 0.573 0.682308 0.6083 0.8046 0.7147 0.6392 0.6677 0.56 0.76 0.66 0.61 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 -1.076815 NA NA 0.569952 0.634348 NA 0.616 NA 4.8674146 1173 16 66947024 66947024 T C intronic CDH16 NA NA NA intronic ENSG00000166589 NA NA NA NA NA 16q22.1 NA Name=NRSF NA NA rs60557147 0.08 0.08 0.069 0.0754792 0.0408 0.2044 0.0749 0.0242 0.0481 0.04 0.19 0.07 0.03 0.0618 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 -0.597631 NA NA 0.03 0.029091 NA 0.051 NA 4.8674 1173 21 15596772 15596772 T G exonic RBM11 NA nonsynonymous SNV RBM11:NM_144770:exon4:c.T346G:p.L116V exonic ENSG00000185272 NA nonsynonymous SNV ENSG00000185272:ENST00000400577:exon4:c.T346G:p.L116V NA NA 21q11.2 NA NA NA NA rs409782 0.77 0.77 0.762 0.755791 0.836 0.7331 0.6988 0.7095 0.7996 0.84 0.73 0.73 0.75 0.8136 0.84 0.57 T 0.0 B 0.0 B 0.497 N 1.000 P 0 N 3.13 T -1.020 T 0.000 T 0.008 -2.401 0.003 0.149 -1.052 -0.851 . -2.401163 NA 0.41 0.816372 0.756817 NA 0.826 NA 4.8673614 1173 7 142124170 142124170 C T intergenic LOC730441,MTRNR2L6 dist=152102;dist=249961 NA NA exonic ENSG00000253534 NA nonsynonymous SNV ENSG00000253534:ENST00000390376:exon2:c.G308A:p.R103Q Score=352;Name=lod=36 NA 7q34 Score=958;Name=V$LYF1_01 NA Name=2 NA rs361452 0.9 0.9 0.878 0.88738 0.999 1 0.9654 0.5923 1 1 1 0.95 0.61 0.9697 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.429596 NA 1 0.997476 0.680457 NA 0.833 NA 4.8671574 1173 5 54439466 54439466 G A exonic CDC20B NA nonsynonymous SNV CDC20B:NM_001145734:exon4:c.C361T:p.R121C,CDC20B:NM_001170402:exon4:c.C361T:p.R121C,CDC20B:NM_152623:exon4:c.C361T:p.R121C exonic ENSG00000164287 NA nonsynonymous SNV ENSG00000164287:ENST00000331730:exon3:c.C298T:p.R100C,ENSG00000164287:ENST00000507931:exon3:c.C298T:p.R100C,ENSG00000164287:ENST00000296733:exon4:c.C361T:p.R121C,ENSG00000164287:ENST00000322374:exon4:c.C361T:p.R121C,ENSG00000164287:ENST00000334206:exon4:c.C361T:p.R121C,ENSG00000164287:ENST00000381375:exon4:c.C361T:p.R121C,ENSG00000164287:ENST00000513180:exon4:c.C361T:p.R121C NA NA 5q11.2 NA NA NA NA rs1021580 0.74 0.74 0.729 0.744409 0.827 0.7262 0.8732 0.5567 0.8405 0.81 0.73 0.86 0.58 0.8118 0.86 0.22 T 0.0 B 0.001 B 0.308 N 1.000 P -0.69 N 3.1 T -1.007 T 0.000 T 0.033 -0.524 1.61 -1.69 -0.713 -0.470 0.908 -0.52432 NA 0.14 0.827442 0.599637 NA 0.667 NA 4.8670914 1173 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 1173 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 1173 19 47548678 47548678 G A exonic NPAS1 NA synonymous SNV NPAS1:NM_002517:exon11:c.G1542A:p.A514A exonic ENSG00000130751 NA synonymous SNV ENSG00000130751:ENST00000602189:exon10:c.G1017A:p.A339A,ENSG00000130751:ENST00000449844:exon11:c.G1542A:p.A514A,ENSG00000130751:ENST00000602212:exon12:c.G1542A:p.A514A NA NA 19q13.32 Score=759;Name=V$STAT3_01 NA NA NA rs889169 0.51 0.51 0.543 0.454673 0.6093 0.6925 0.5346 0.1581 0.3947 0.62 0.67 0.49 0.16 0.5898 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 -0.55167 NA NA 0.601027 0.231891 NA 0.558 NA 4.8665396 1173 11 8948680 8948680 A T exonic C11orf16 NA synonymous SNV C11orf16:NM_020643:exon4:c.T366A:p.P122P exonic ENSG00000176029 NA synonymous SNV ENSG00000176029:ENST00000326053:exon4:c.T366A:p.P122P,ENSG00000176029:ENST00000525780:exon4:c.T366A:p.P122P Score=243;Name=lod=13 NA 11p15.4 NA NA NA NA rs3751065 0.58 0.58 0.547 0.527556 0.6044 0.7093 0.6772 0.2821 0.4867 0.6 0.75 0.62 0.31 0.5884 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 -0.237185 NA NA 0.607426 0.333485 NA 0.5 NA 4.8664406 1173 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 1173 14 94776219 94776219 C T exonic SERPINA6 NA synonymous SNV SERPINA6:NM_001756:exon3:c.G738A:p.S246S exonic ENSG00000170099 NA synonymous SNV ENSG00000170099:ENST00000341584:exon3:c.G738A:p.S246S NA NA 14q32.13 NA NA NA NA rs2228542 0.21 0.21 0.223 0.179912 0.3012 0.0595 0.1484 0.2284 0.136 0.31 0.08 0.16 0.24 0.2279 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600461 NA NA 0.271512 0.234226 ID=COSM1179760;OCCURENCE=1(prostate) 0.188 NA 4.8660546 1173 7 31594508 31594508 C T exonic CCDC129 NA synonymous SNV CCDC129:NM_194300:exon3:c.C249T:p.D83D,CCDC129:NM_001257968:exon4:c.C327T:p.D109D,CCDC129:NM_001257967:exon5:c.C279T:p.D93D exonic ENSG00000180347 NA synonymous SNV ENSG00000180347:ENST00000319386:exon4:c.C249T:p.D83D,ENSG00000180347:ENST00000407970:exon4:c.C249T:p.D83D,ENSG00000180347:ENST00000409717:exon4:c.C249T:p.D83D,ENSG00000180347:ENST00000451887:exon4:c.C327T:p.D109D,ENSG00000180347:ENST00000454513:exon4:c.C249T:p.D83D,ENSG00000180347:ENST00000456011:exon4:c.C249T:p.D83D NA NA 7p14.3 NA NA NA NA rs2286711 0.24 0.24 0.227 0.228834 0.2435 0.3313 0.1671 0.1551 0.2515 0.24 0.35 0.19 0.14 0.3213 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.246016 NA NA 0.236218 0.178847 NA 0.246 NA 4.8656486 1173 1 169512027 169512027 T C exonic F5 NA synonymous SNV F5:NM_000130:exon13:c.A2301G:p.S767S exonic ENSG00000198734 NA synonymous SNV ENSG00000198734:ENST00000367796:exon13:c.A2316G:p.S772S,ENSG00000198734:ENST00000367797:exon13:c.A2301G:p.S767S NA NA 1q24.2 NA NA NA NA rs6021 0.24 0.24 0.211 0.26278 0.2535 0.248 0.3948 0.1679 0.3221 0.25 0.2 0.36 0.2 0.2737 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038104 NA NA 0.273837 0.184521 NA 0.341 NA 4.8656296 1173 1 169512093 169512093 A G exonic F5 NA synonymous SNV F5:NM_000130:exon13:c.T2235C:p.N745N exonic ENSG00000198734 NA synonymous SNV ENSG00000198734:ENST00000367796:exon13:c.T2250C:p.N750N,ENSG00000198734:ENST00000367797:exon13:c.T2235C:p.N745N NA NA 1q24.2 NA NA NA NA rs6017 0.24 0.24 0.205 0.26278 0.2535 0.248 0.3948 0.1679 0.3221 0.25 0.2 0.36 0.2 0.2737 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.001395 NA NA 0.273837 0.184294 NA 0.341 NA 4.8656296 1173 11 33881016 33881016 T C exonic LMO2 NA synonymous SNV LMO2:NM_001142316:exon3:c.A363G:p.K121K,LMO2:NM_001142315:exon4:c.A363G:p.K121K,LMO2:NM_005574:exon6:c.A570G:p.K190K exonic ENSG00000135363 NA synonymous SNV ENSG00000135363:ENST00000395833:exon3:c.A363G:p.K121K,ENSG00000135363:ENST00000257818:exon6:c.A570G:p.K190K Score=629;Name=lod=478 NA 11p13 NA NA NA NA rs3740617 0.54 0.54 0.496 0.5625 0.5954 0.4921 0.7291 0.4682 0.6104 0.58 0.48 0.69 0.45 0.6001 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 0.905886 NA NA 0.605747 0.506585 ID=COSM147176;OCCURENCE=1(stomach) 0.652 NA 4.8654196 1173 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 1174 18 9886890 9886890 A G exonic TXNDC2 NA synonymous SNV TXNDC2:NM_001098529:exon2:c.A414G:p.S138S,TXNDC2:NM_032243:exon2:c.A213G:p.S71S exonic ENSG00000168454 NA synonymous SNV ENSG00000168454:ENST00000306084:exon2:c.A414G:p.S138S,ENSG00000168454:ENST00000357775:exon2:c.A213G:p.S71S,ENSG00000168454:ENST00000536353:exon2:c.A213G:p.S71S NA NA 18p11.22 NA NA NA NA rs601874 0.18 0.18 0.163 0.191693 0.2873 0.001 0.1628 0.2791 0.1922 0.27 NA 0.2 0.23 0.2342 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059114 NA NA 0.280581 0.260327 NA 0.232 NA 4.8645856 1174 11 64884052 64884052 G A exonic ZNHIT2 NA synonymous SNV ZNHIT2:NM_014205:exon1:c.C1074T:p.A358A exonic ENSG00000174276 NA synonymous SNV ENSG00000174276:ENST00000310597:exon1:c.C1074T:p.A358A NA NA 11q13.1 Score=737;Name=V$PAX4_04 Name=Pol2-4H8 NA NA rs1546532 0.92 0.92 0.936 0.886781 0.9423 0.9325 0.9164 0.9002 0.7434 0.95 0.91 0.92 0.91 0.9171 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 -0.82173 NA NA 0.942751 0.913448 NA 0.913 NA 4.8645156 1174 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 1174 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 1174 19 15133762 15133762 G C exonic CCDC105 NA nonsynonymous SNV CCDC105:NM_173482:exon7:c.G1331C:p.S444T exonic ENSG00000160994 NA nonsynonymous SNV ENSG00000160994:ENST00000292574:exon7:c.G1331C:p.S444T NA NA 19p13.12 NA NA NA NA rs8111625 0.87 0.87 0.875 0.859824 0.8091 0.9077 0.8545 0.9501 0.7444 0.8 0.9 0.87 0.96 0.8364 0.96 0.61 T 0.0 B 0.0 B 0.419 N 1.000 P -1.87 N 4.3 T -1.041 T 0.000 T 0.024 -0.986 0.281 0.78 -0.064 0.122 3.917 -0.986297 NA 0.77 0.823721 0.919391 NA 0.739 NA 4.8641124 1174 16 88781534 88781534 C T intronic CTU2 NA NA NA exonic ENSG00000174177 NA nonsynonymous SNV ENSG00000174177:ENST00000567316:exon3:c.C202T:p.R68C NA NA 16q24.3 NA NA NA NA rs61737996 0.05 0.05 0.057 0.0371406 0.1064 0.004 0.0576 0.0045 0.0297 0.11 0.0017 0.08 0.01 0.08 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 0.829314 NA NA 0.117024 0.022146 NA 0.022 NA 4.8632427 1174 3 195505664 195505664 G A exonic MUC4 NA nonsynonymous SNV MUC4:NM_018406:exon2:c.C12787T:p.P4263S exonic ENSG00000145113 NA nonsynonymous SNV ENSG00000145113:ENST00000462323:exon2:c.C12787T:p.P4263S,ENSG00000145113:ENST00000463781:exon2:c.C12787T:p.P4263S,ENSG00000145113:ENST00000466475:exon2:c.C12787T:p.P4263S,ENSG00000145113:ENST00000470451:exon2:c.C12787T:p.P4263S,ENSG00000145113:ENST00000475231:exon2:c.C12787T:p.P4263S,ENSG00000145113:ENST00000477086:exon2:c.C12787T:p.P4263S,ENSG00000145113:ENST00000477756:exon2:c.C12787T:p.P4263S,ENSG00000145113:ENST00000478156:exon2:c.C12787T:p.P4263S,ENSG00000145113:ENST00000479406:exon2:c.C12787T:p.P4263S,ENSG00000145113:ENST00000480843:exon2:c.C12787T:p.P4263S NA NA 3q29 NA NA NA NA rs2688513 0.83 0.83 0.876 0.789537 0.837 0.8115 0.6599 0.9917 0.5368 0.84 0.78 0.69 0.99 0.8052 0.99 1 T 0.022 B 0.009 B 0.404 N 1.000 P . . 1.57 T -0.982 T 0.000 T 0.194 -0.709 0.941 0.274 -0.249 0.153 3.562 -0.709447 NA 0.6 0.82817 0.967134 NA 0.877 NA 4.8629634 1174 11 5510341 5510341 C T exonic OR52D1 NA synonymous SNV OR52D1:NM_001005163:exon1:c.C405T:p.Y135Y exonic ENSG00000181609 NA synonymous SNV ENSG00000181609:ENST00000322641:exon1:c.C405T:p.Y135Y NA NA 11p15.4 Score=817;Name=V$FOXO4_02 NA NA NA rs404280 0.54 0.54 0.518 0.525359 0.5944 0.6071 0.5836 0.323 0.6022 0.61 0.59 0.58 0.34 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 -2.044026 NA NA 0.623691 0.383689 NA 0.616 NA 4.8628756 1174 1 158626378 158626378 C T exonic SPTA1 NA synonymous SNV SPTA1:NM_003126:exon20:c.G2874A:p.L958L exonic ENSG00000163554 NA synonymous SNV ENSG00000163554:ENST00000368147:exon20:c.G2874A:p.L958L,ENSG00000163554:ENST00000368148:exon20:c.G2874A:p.L958L NA NA 1q23.1 NA NA NA NA rs857691 0.42 0.42 0.413 0.423522 0.2495 0.4087 0.3588 0.7935 0.1636 0.25 0.38 0.31 0.81 0.3093 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 -0.742561 NA NA 0.246396 0.696929 NA 0.442 NA 4.8614706 1174 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 1174 3 15737689 15737689 G A exonic ANKRD28 NA synonymous SNV ANKRD28:NM_001195099:exon13:c.C1059T:p.N353N,ANKRD28:NM_001195098:exon15:c.C1059T:p.N353N,ANKRD28:NM_015199:exon15:c.C1521T:p.N507N exonic ENSG00000206560 NA synonymous SNV ENSG00000206560:ENST00000451422:exon14:c.C1353T:p.N451N,ENSG00000206560:ENST00000383777:exon15:c.C1620T:p.N540N,ENSG00000206560:ENST00000399451:exon15:c.C1521T:p.N507N,ENSG00000206560:ENST00000412318:exon15:c.C1521T:p.N507N Score=660;Name=lod=642 NA 3p25.1 NA NA NA NA rs2470548 0.49 0.49 0.48 0.469249 0.6034 0.3522 0.6311 0.3608 0.4836 0.6 0.39 0.65 0.34 0.6043 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.146983 NA NA 0.598299 0.422322 NA 0.464 NA 4.8606676 1174 11 617420 617420 A G exonic CDHR5 NA synonymous SNV CDHR5:NM_031264:exon14:c.T1887C:p.D629D,CDHR5:NM_001171968:exon15:c.T2451C:p.D817D,CDHR5:NM_021924:exon15:c.T2469C:p.D823D exonic ENSG00000099834 NA synonymous SNV ENSG00000099834:ENST00000349570:exon14:c.T1887C:p.D629D,ENSG00000099834:ENST00000397542:exon15:c.T2469C:p.D823D,ENSG00000099834:ENST00000358353:exon16:c.T2469C:p.D823D NA NA 11p15.5 NA NA NA NA rs61877857 0.28 0.28 0.28 0.276558 0.2684 0.0208 0.3026 0.5855 0.1125 0.26 0.01 0.34 0.58 0.2498 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.309923 NA NA 0.287925 0.515916 ID=COSM429422;OCCURENCE=1(breast),1(large_intestine) 0.275 NA 4.8605416 1174 10 23297301 23297301 C T exonic ARMC3 NA synonymous SNV ARMC3:NM_173081:exon15:c.C1926T:p.N642N exonic ENSG00000165309 NA synonymous SNV ENSG00000165309:ENST00000376528:exon12:c.C1137T:p.N379N,ENSG00000165309:ENST00000298032:exon15:c.C1926T:p.N642N,ENSG00000165309:ENST00000409049:exon15:c.C1926T:p.N642N,ENSG00000165309:ENST00000409983:exon15:c.C1926T:p.N642N Score=295;Name=lod=21 NA 10p12.2 NA NA NA NA rs11817610 0.53 0.53 0.498 0.5 0.6163 0.5476 0.5605 0.2958 0.5644 0.63 0.5 0.62 0.33 0.5771 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041425 NA NA 0.612945 0.342466 NA 0.522 NA 4.8603216 1174 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 1174 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 1174 10 98386558 98386558 G A exonic PIK3AP1 NA synonymous SNV PIK3AP1:NM_152309:exon10:c.C1576T:p.L526L exonic ENSG00000155629 NA synonymous SNV ENSG00000155629:ENST00000371109:exon3:c.C373T:p.L125L,ENSG00000155629:ENST00000371110:exon9:c.C1042T:p.L348L,ENSG00000155629:ENST00000339364:exon10:c.C1576T:p.L526L Score=461;Name=lod=100 NA 10q24.1 NA Name=CTCF NA NA rs4344416 0.91 0.91 0.912 0.891773 0.9344 0.999 0.951 0.7133 0.9366 0.94 1 0.96 0.73 0.9252 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.01974 NA NA 0.947907 0.746709 NA 0.899 NA 4.8591596 1174 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 1174 22 46931838 46931838 G A exonic CELSR1 NA synonymous SNV CELSR1:NM_014246:exon1:c.C1230T:p.S410S exonic ENSG00000075275 NA synonymous SNV ENSG00000075275:ENST00000262738:exon1:c.C1230T:p.S410S,ENSG00000075275:ENST00000395964:exon1:c.C1230T:p.S410S Score=409;Name=lod=61 NA 22q13.31 Score=800;Name=V$PAX4_01 NA NA NA rs1009155 0.9 0.9 0.894 0.886581 0.9533 0.9742 0.9352 0.7194 0.9192 0.95 0.97 0.93 0.74 0.9209 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 -0.970232 NA NA 0.933745 0.717984 NA 0.812 NA 4.8587216 1174 6 161139857 161139857 A G exonic PLG NA synonymous SNV PLG:NM_000301:exon9:c.A1083G:p.Q361Q exonic ENSG00000122194 NA synonymous SNV ENSG00000122194:ENST00000308192:exon9:c.A1083G:p.Q361Q NA NA 6q26 NA NA NA NA rs13231 0.16 0.16 0.141 0.136382 0.2922 NA 0.1744 0.1452 0.0777 0.28 NA 0.2 0.13 0.2155 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824392 NA NA 0.300814 0.17635 NA 0.254 NA 4.8581526 1174 14 88652389 88652389 C T exonic KCNK10 NA synonymous SNV KCNK10:NM_021161:exon7:c.G1107A:p.A369A,KCNK10:NM_138317:exon7:c.G1122A:p.A374A,KCNK10:NM_138318:exon7:c.G1122A:p.A374A exonic ENSG00000100433 NA synonymous SNV ENSG00000100433:ENST00000312350:exon7:c.G1122A:p.A374A,ENSG00000100433:ENST00000319231:exon7:c.G1122A:p.A374A,ENSG00000100433:ENST00000340700:exon7:c.G1107A:p.A369A NA NA 14q31.3 NA NA NA NA rs3742692 0.23 0.23 0.219 0.217851 0.2744 0.3681 0.1614 0.028 0.3016 0.28 0.39 0.15 0.05 0.2563 0.39 NA NA 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 0.278115 0.067001 ID=COSM1477811,COSM433445,COSM433444;OCCURENCE=1(breast) 0.21 NA 4.8578516 1174 19 50435747 50435747 T C exonic ATF5 NA synonymous SNV ATF5:NM_001193646:exon3:c.T247C:p.L83L,ATF5:NM_012068:exon4:c.T247C:p.L83L exonic ENSG00000169136 NA synonymous SNV ENSG00000169136:ENST00000423777:exon3:c.T247C:p.L83L,ENSG00000169136:ENST00000596658:exon3:c.T247C:p.L83L,ENSG00000169136:ENST00000595125:exon4:c.T247C:p.L83L,ENSG00000169136:ENST00000597227:exon4:c.T247C:p.L83L Score=563;Name=lod=259 NA 19q13.33 NA NA NA NA rs283525 0.68 0.68 0.614 0.668131 0.6163 0.7054 0.6268 0.7345 0.6227 0.63 0.72 0.64 0.74 0.6242 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.207569 NA NA 0.568372 0.703359 NA 0.645 NA 4.8577946 1174 5 122131082 122131082 A G intronic SNX2 NA NA NA intronic ENSG00000205302 NA NA NA Score=558;Name=lod=248 NA 5q23.2 Score=976;Name=V$EN1_01 NA NA NA rs2161391 0.36 0.36 0.36 0.330272 0.4006 0.1577 0.389 0.5045 0.1585 0.4 0.16 0.44 0.49 0.3564 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.322362 2.322362 NA 0.385698 0.478892 NA 0.326 NA 4.857302 1174 4 89314635 89314635 A G intronic HERC6 NA NA NA intronic ENSG00000138642 NA NA NA Score=309;Name=lod=24 NA 4q22.1 NA NA NA NA rs61750818 0.02 0.02 0.006 0.0211661 0.0427 NA 0.0173 0.0015 0.0501 0.04 NA 0.02 0.002 0.0499 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 -0.703742 NA NA 0.05011 0.01027 NA 0.022 NA 4.85729 1174 17 10318636 10318636 A G exonic MYH8 NA synonymous SNV MYH8:NM_002472:exon8:c.T714C:p.T238T exonic ENSG00000133020 NA synonymous SNV ENSG00000133020:ENST00000403437:exon8:c.T714C:p.T238T NA NA 17p13.1 NA Name=CTCF NA NA rs8068729 0.88 0.88 0.859 0.86242 0.9414 0.998 0.9207 0.6203 0.9274 0.94 1 0.91 0.62 0.9224 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02825 NA NA 0.945698 0.682932 NA 0.877 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117694.1;CLNDSDB=.;CLNDSDBID=. 4.8571686 1174 9 104499575 104499575 T C exonic GRIN3A NA synonymous SNV GRIN3A:NM_133445:exon1:c.A687G:p.P229P exonic ENSG00000198785 NA synonymous SNV ENSG00000198785:ENST00000361820:exon1:c.A687G:p.P229P Score=504;Name=lod=149 NA 9q31.1 Score=787;Name=V$MYCMAX_03 NA NA NA rs1337677 0.81 0.81 0.821 0.827276 0.9583 0.5635 0.902 0.8464 0.8855 0.95 0.54 0.92 0.85 0.9035 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.887347 NA NA 0.947791 0.857694 NA 0.812 NA 4.8570756 1174 2 200820505 200820505 T G UTR5 C2orf47 NM_024520:c.-17T>G NA NA UTR5 ENSG00000162972 ENST00000295079:c.-17T>G,ENST00000392290:c.-17T>G NA NA Score=309;Name=lod=24 NA 2q33.1 NA Name=KAP1,HEY1,ELF1_(SC-631),TAF1,NFKB,Pol2-4H8,GABP,POU2F2,Pol2,ZNF263,TBP,TR4,YY1,TCF4,YY1_(C-20),Oct-2 Name=148 NA rs281766 0.84 0.84 0.831 0.870407 0.8211 0.8016 0.9164 0.8933 0.9284 0.82 0.78 0.9 0.87 0.8327 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.117783 NA NA 0.822487 0.891394 NA 0.928 NA 4.8570464 1174 4 152681952 152681952 A G intronic PET112 NA NA NA intronic ENSG00000059691 NA NA NA NA NA 4q31.3 NA Name=Pol2(b),Pol2,KAP1 Name=2 NA rs1429559 0.41 0.41 0.423 0.445487 0.3777 0.3323 0.3098 0.5492 0.5879 0.36 0.37 0.31 0.59 0.4024 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.29171 NA NA 0.363023 0.51793 NA 0.428 NA 4.856877 1174 19 45818835 45818835 A G exonic CKM NA synonymous SNV CKM:NM_001824:exon4:c.T369C:p.P123P exonic ENSG00000104879 NA synonymous SNV ENSG00000104879:ENST00000221476:exon4:c.T369C:p.P123P Score=567;Name=lod=270 NA 19q13.32 NA NA NA NA rs1133190 0.42 0.42 0.422 0.407149 0.6342 0.2381 0.3372 0.3011 0.5409 0.64 0.24 0.35 0.31 0.5459 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.319068 NA NA 0.629767 0.354517 ID=COSM292301;OCCURENCE=1(large_intestine) 0.493 NA 4.8567996 1174 14 21551058 21551058 G A exonic ARHGEF40 NA synonymous SNV ARHGEF40:NM_018071:exon16:c.G3555A:p.A1185A exonic ENSG00000165801 NA synonymous SNV ENSG00000165801:ENST00000298693:exon16:c.G3555A:p.A1185A,ENSG00000165801:ENST00000298694:exon16:c.G3555A:p.A1185A NA NA 14q11.2 Score=844;Name=V$P300_01 NA NA NA rs1958395 0.55 0.55 0.546 0.544728 0.6193 0.5139 0.4942 0.5424 0.5389 0.62 0.51 0.5 0.51 0.5756 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.724267 NA NA 0.615 0.544712 NA 0.58 NA 4.8567666 1174 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 1174 3 50144951 50144951 T C exonic RBM5 NA synonymous SNV RBM5:NM_005778:exon12:c.T990C:p.A330A exonic ENSG00000003756 NA synonymous SNV ENSG00000003756:ENST00000347869:exon12:c.T990C:p.A330A Score=622;Name=lod=450 NA 3p21.31 NA NA NA NA rs1061474 0.72 0.72 0.718 0.747404 0.5686 0.881 0.6945 0.7458 0.8333 0.58 0.89 0.7 0.75 0.6715 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 1.67655 1.67655 NA 0.569884 0.720608 NA 0.761 NA 4.8566826 1174 2 27592423 27592423 C T intronic EIF2B4 NA NA NA intronic ENSG00000115211 NA NA NA Score=600;Name=lod=365 NA 2p23.3 NA NA NA NA rs7602534 0.34 0.34 0.331 0.378395 0.3648 0.1617 0.4683 0.4924 0.3978 0.38 0.13 0.41 0.48 0.3962 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.78201 1.78201 NA 0.382326 0.481162 NA 0.522 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081780.1;CLNDSDB=.;CLNDSDBID=. 4.856674 1174 4 73178202 73178202 T G intronic ADAMTS3 NA NA NA intronic ENSG00000156140 NA NA NA NA NA 4q13.3 NA NA Name=42 NA rs139379032 0.02 0.02 0.02 0.0179712 0.0537 NA 0.0288 0.0023 0.0133 0.05 NA 0.03 0.002 0.0411 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 -0.120245 NA NA 0.048605 0.009532 NA 0.007 NA 4.856595 1174 3 50114515 50114515 C T exonic RBM6 NA synonymous SNV RBM6:NM_001167582:exon17:c.C1755T:p.Y585Y,RBM6:NM_005777:exon21:c.C3321T:p.Y1107Y exonic ENSG00000004534 NA synonymous SNV ENSG00000004534:ENST00000421682:exon5:c.C309T:p.Y103Y,ENSG00000004534:ENST00000539992:exon16:c.C1347T:p.Y449Y,ENSG00000004534:ENST00000442092:exon17:c.C1755T:p.Y585Y,ENSG00000004534:ENST00000422955:exon19:c.C1755T:p.Y585Y,ENSG00000004534:ENST00000266022:exon21:c.C3321T:p.Y1107Y,ENSG00000004534:ENST00000443081:exon21:c.C2925T:p.Y975Y Score=603;Name=lod=378 NA 3p21.31 NA NA NA NA rs7061 0.72 0.72 0.723 0.747005 0.5686 0.879 0.6945 0.7458 0.8333 0.58 0.89 0.7 0.75 0.6715 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 -0.79654 NA 0 0.570116 0.720835 NA 0.761 NA 4.8564506 1174 8 27401964 27401964 A C exonic EPHX2 NA synonymous SNV EPHX2:NM_001256483:exon18:c.A1395C:p.P465P,EPHX2:NM_001256482:exon19:c.A1434C:p.P478P,EPHX2:NM_001256484:exon19:c.A1434C:p.P478P,EPHX2:NM_001979:exon19:c.A1593C:p.P531P exonic ENSG00000120915 NA synonymous SNV ENSG00000120915:ENST00000517536:exon15:c.A1044C:p.P348P,ENSG00000120915:ENST00000518379:exon18:c.A1497C:p.P499P,ENSG00000120915:ENST00000521780:exon18:c.A1395C:p.P465P,ENSG00000120915:ENST00000380476:exon19:c.A1434C:p.P478P,ENSG00000120915:ENST00000521400:exon19:c.A1593C:p.P531P NA NA 8p21.1 NA NA NA NA rs1126452 0.41 0.41 0.43 0.430911 0.2366 0.4147 0.255 0.7655 0.32 0.24 0.43 0.24 0.75 0.3053 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 0.054114 NA NA 0.268605 0.649569 NA 0.507 NA 4.8561616 1174 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 1174 4 159881479 159881479 T C exonic C4orf45 NA synonymous SNV C4orf45:NM_152543:exon3:c.A315G:p.Q105Q exonic ENSG00000164123 NA synonymous SNV ENSG00000164123:ENST00000434826:exon3:c.A315G:p.Q105Q NA NA 4q32.1 NA NA NA NA rs9784569 0.22 0.22 0.196 0.202676 0.2744 0.2421 0.1974 0.1203 0.2035 0.26 0.24 0.22 0.14 0.2478 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.38682 NA NA 0.288334 0.129867 NA 0.188 NA 4.8561326 1174 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 1174 3 50153356 50153356 T C exonic RBM5 NA synonymous SNV RBM5:NM_005778:exon22:c.T2037C:p.Y679Y exonic ENSG00000003756 NA synonymous SNV ENSG00000003756:ENST00000347869:exon22:c.T2037C:p.Y679Y Score=607;Name=lod=390 NA 3p21.31 NA NA NA NA rs1138536 0.72 0.72 0.72 0.747404 0.5686 0.8819 0.6945 0.7458 0.8323 0.58 0.89 0.7 0.75 0.6718 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 0.776229 NA NA 0.570233 0.720835 NA 0.761 NA 4.8560336 1174 20 5919378 5919378 C G intronic TRMT6 NA NA NA intronic ENSG00000089195 NA NA NA NA NA 20p12.3 Score=813;Name=V$FOXO1_02 NA NA NA rs10485494 0.03 0.03 0.042 0.0417332 0.0527 0.0119 0.0375 0.0764 0.0174 0.04 0.01 0.04 0.04 0.0431 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 0.774841 NA NA 0.048256 0.05833 NA 0.036 NA 4.855944 1174 15 56207983 56207983 C T exonic NEDD4 NA synonymous SNV NEDD4:NM_198400:exon1:c.G1047A:p.S349S exonic ENSG00000069869 NA synonymous SNV ENSG00000069869:ENST00000338963:exon1:c.G1047A:p.S349S,ENSG00000069869:ENST00000506154:exon1:c.G1047A:p.S349S,ENSG00000069869:ENST00000508342:exon1:c.G1047A:p.S349S NA NA 15q21.3 NA NA NA NA rs7174459 0.2 0.2 0.183 0.179912 0.2694 0.1032 0.3386 0.1044 0.1564 0.28 0.12 0.31 0.11 0.2581 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.794765 NA NA 0.2838 0.136135 NA 0.101 NA 4.8553666 1174 19 18329240 18329240 T C exonic PDE4C NA synonymous SNV PDE4C:NM_001098818:exon10:c.A1038G:p.E346E,PDE4C:NM_001098819:exon10:c.A816G:p.E272E,PDE4C:NM_000923:exon11:c.A1134G:p.E378E exonic ENSG00000105650 NA synonymous SNV ENSG00000105650:ENST00000539010:exon6:c.A441G:p.E147E,ENSG00000105650:ENST00000262805:exon10:c.A1038G:p.E346E,ENSG00000105650:ENST00000447275:exon10:c.A816G:p.E272E,ENSG00000105650:ENST00000594465:exon10:c.A1134G:p.E378E,ENSG00000105650:ENST00000594617:exon11:c.A1134G:p.E378E,ENSG00000105650:ENST00000355502:exon14:c.A1134G:p.E378E Score=440;Name=lod=82 NA 19p13.11 NA NA NA NA rs1042050 0.47 0.47 0.474 0.419928 0.6501 0.1687 0.5461 0.4516 0.3098 0.66 0.17 0.56 0.48 0.5435 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 0.09162 NA NA 0.618023 0.473899 ID=COSM148534;OCCURENCE=1(stomach) 0.428 NA 4.8550436 1175 21 44840873 44840873 G A intronic SIK1 NA NA NA intronic ENSG00000142178 NA NA NA NA NA 21q22.3 NA NA Name=6 NA rs75559179 0.02 0.02 0.023 0.019369 0.0527 0.002 0.0144 0.0038 0.0276 0.05 0.0017 0.02 0.01 0.0419 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 0.126335 NA NA 0.050477 0.007497 NA 0.007 NA 4.854923 1175 19 54705317 54705317 C G intronic RPS9 NA NA NA intronic ENSG00000170889 NA NA NA NA NA 19q13.42 NA Name=RFX5_(N-494),STAT1 Name=3 NA rs158366 0.36 0.36 0.317 0.291933 0.4195 0.4315 0.3818 0.0802 0.2393 0.42 0.45 0.42 0.1 0.3405 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120611 NA NA 0.385233 0.121652 NA 0.348 NA 4.854767 1175 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 1175 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 1175 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 1175 4 186299260 186299260 A G exonic LRP2BP NA synonymous SNV LRP2BP:NM_018409:exon1:c.T81C:p.F27F exonic ENSG00000109771 NA synonymous SNV ENSG00000109771:ENST00000328559:exon1:c.T81C:p.F27F,ENSG00000109771:ENST00000362004:exon1:c.T81C:p.F27F,ENSG00000109771:ENST00000505916:exon2:c.T81C:p.F27F,ENSG00000109771:ENST00000511404:exon2:c.T81C:p.F27F NA NA 4q35.1 NA NA NA NA rs2030802 0.39 0.39 0.373 0.370407 0.2624 0.247 0.3199 0.612 0.318 0.27 0.31 0.35 0.7 0.2943 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 -1.080201 NA NA 0.255465 0.537676 ID=COSM1131164;OCCURENCE=1(prostate) 0.333 NA 4.8545016 1175 22 24459438 24459438 T C exonic CABIN1 NA synonymous SNV CABIN1:NM_001201429:exon13:c.T1563C:p.C521C,CABIN1:NM_001199281:exon14:c.T1713C:p.C571C,CABIN1:NM_012295:exon14:c.T1713C:p.C571C exonic ENSG00000099991 NA synonymous SNV ENSG00000099991:ENST00000405822:exon13:c.T1563C:p.C521C,ENSG00000099991:ENST00000263119:exon14:c.T1713C:p.C571C,ENSG00000099991:ENST00000398319:exon14:c.T1713C:p.C571C Score=499;Name=lod=142 NA 22q11.23 Score=807;Name=V$CMYB_01 NA NA NA rs762273 0.94 0.94 0.95 0.932308 0.9414 0.9236 0.8948 0.9977 0.8701 0.95 0.89 0.93 1 0.9333 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.181068 NA NA 0.937674 0.98956 NA 0.964 NA 4.8542926 1175 3 128181777 128181777 A G exonic DNAJB8 NA synonymous SNV DNAJB8:NM_153330:exon3:c.T312C:p.F104F exonic ENSG00000179407 NA synonymous SNV ENSG00000179407:ENST00000469083:exon2:c.T312C:p.F104F,ENSG00000179407:ENST00000319153:exon3:c.T312C:p.F104F Score=391;Name=lod=52 NA 3q21.3 NA NA NA NA rs2659690 0.49 0.49 0.448 0.474042 0.6352 0.4058 0.5389 0.388 0.4489 0.65 0.37 0.51 0.38 0.5563 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.831461 NA NA 0.621047 0.413073 NA 0.58 NA 4.8541196 1175 6 3077141 3077141 T C exonic RIPK1 NA synonymous SNV RIPK1:NM_003804:exon1:c.T84C:p.F28F exonic ENSG00000137275 NA synonymous SNV ENSG00000137275:ENST00000380409:exon1:c.T84C:p.F28F,ENSG00000137275:ENST00000541791:exon1:c.T84C:p.F28F,ENSG00000137275:ENST00000259808:exon2:c.T84C:p.F28F Score=483;Name=lod=123 NA 6p25.2 Score=885;Name=V$SPZ1_01 NA NA NA rs2272990 0.85 0.85 0.853 0.848842 0.9344 0.7262 0.8977 0.789 0.9335 0.92 0.76 0.9 0.79 0.9148 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 1.337709 1.337709 NA 0.963372 0.820018 NA 0.87 NA 4.8540946 1175 16 16228242 16228242 G A exonic ABCC1 NA synonymous SNV ABCC1:NM_004996:exon28:c.G4002A:p.S1334S exonic ENSG00000103222 NA synonymous SNV ENSG00000103222:ENST00000349029:exon26:c.G3657A:p.S1219S,ENSG00000103222:ENST00000346370:exon27:c.G3834A:p.S1278S,ENSG00000103222:ENST00000351154:exon27:c.G3825A:p.S1275S,ENSG00000103222:ENST00000345148:exon28:c.G4002A:p.S1334S,ENSG00000103222:ENST00000399410:exon28:c.G4002A:p.S1334S,ENSG00000103222:ENST00000399408:exon29:c.G4032A:p.S1344S NA NA 16p13.11 NA NA NA NA rs2230671 0.19 0.19 0.171 0.17512 0.2922 0.121 0.2867 0.0666 0.1779 0.29 0.12 0.24 0.07 0.2435 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.5009 NA NA 0.277147 0.097452 NA 0.145 NA 4.8538196 1175 19 1789556 1789556 C T exonic ATP8B3 NA synonymous SNV ATP8B3:NM_001178002:exon23:c.G2538A:p.Q846Q,ATP8B3:NM_138813:exon23:c.G2649A:p.Q883Q exonic ENSG00000130270 NA synonymous SNV ENSG00000130270:ENST00000310127:exon23:c.G2649A:p.Q883Q,ENSG00000130270:ENST00000525591:exon23:c.G2538A:p.Q846Q,ENSG00000130270:ENST00000539485:exon23:c.G2679A:p.Q893Q NA NA 19p13.3 NA NA NA NA rs12978609 0.33 0.33 0.284 0.309704 0.2515 0.4395 0.2882 0.2988 0.2658 0.25 0.46 0.28 0.33 0.3169 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00457 NA NA 0.244589 0.276646 NA NA NA 4.8536776 1175 19 49217305 49217305 A G intronic MAMSTR NA NA NA intronic ENSG00000176909 NA NA NA NA NA 19q13.33 NA Name=ZBTB7A_(SC-34508),NF-YB,Egr-1,SP1,c-Myc,HEY1,NF-YA,Pol2-4H8,EBF1_(C-8),TAF1,Pol2 Name=148 NA rs281386 0.51 0.51 0.463 0.491214 0.3718 0.8413 0.487 0.3654 0.4264 0.37 0.83 0.48 0.37 0.4347 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 0.325536 NA NA 0.339907 0.34255 NA 0.406 NA 4.853593 1175 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 1175 2 48030838 48030838 A T intronic MSH6 NA NA NA intronic ENSG00000116062,ENSG00000138081 NA NA NA NA NA 2p16.3 NA Name=SETDB1 NA NA rs2020911 0.4 0.4 0.347 0.400958 0.3608 0.619 0.4597 0.1316 0.5399 0.36 0.65 0.42 0.14 0.4043 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.135133 NA NA 0.381628 0.18384 NA 0.333 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_specified|Lynch_syndrome|not_provided;CLNREVSTAT=mult|exp|single;CLNACC=RCV000035324.2|RCV000074853.1|RCV000126833.1;CLNDSDB=.|GeneReviews:MedGen:SNOMED_CT|.;CLNDSDBID=.|NBK1211:C0009405:315058005|. 4.853272 1175 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 1175 19 54705340 54705340 C G intronic RPS9 NA NA NA intronic ENSG00000170889 NA NA NA NA NA 19q13.42 NA Name=RFX5_(N-494) Name=3 NA rs2304524 0.36 0.36 0.316 0.291534 0.4205 0.4276 0.3818 0.0809 0.2393 0.42 0.45 0.42 0.1 0.3416 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.267441 NA NA 0.385581 0.121879 NA 0.348 NA 4.852319 1175 12 76453966 76453966 G A exonic NAP1L1 NA synonymous SNV NAP1L1:NM_004537:exon5:c.C300T:p.H100H,NAP1L1:NM_139207:exon5:c.C300T:p.H100H exonic ENSG00000187109 NA synonymous SNV ENSG00000187109:ENST00000551524:exon2:c.C177T:p.H59H,ENSG00000187109:ENST00000552147:exon2:c.C186T:p.H62H,ENSG00000187109:ENST00000547773:exon3:c.C111T:p.H37H,ENSG00000187109:ENST00000548273:exon3:c.C177T:p.H59H,ENSG00000187109:ENST00000552056:exon3:c.C282T:p.H94H,ENSG00000187109:ENST00000431879:exon4:c.C177T:p.H59H,ENSG00000187109:ENST00000542344:exon4:c.C177T:p.H59H,ENSG00000187109:ENST00000548044:exon4:c.C177T:p.H59H,ENSG00000187109:ENST00000261182:exon5:c.C300T:p.H100H,ENSG00000187109:ENST00000393263:exon5:c.C300T:p.H100H,ENSG00000187109:ENST00000535020:exon5:c.C300T:p.H100H,ENSG00000187109:ENST00000547704:exon5:c.C300T:p.H100H,ENSG00000187109:ENST00000549596:exon5:c.C300T:p.H100H,ENSG00000187109:ENST00000550934:exon5:c.C300T:p.H100H,ENSG00000187109:ENST00000551600:exon5:c.C300T:p.H100H,ENSG00000187109:ENST00000551992:exon5:c.C300T:p.H100H,ENSG00000187109:ENST00000552342:exon5:c.C300T:p.H100H,ENSG00000187109:ENST00000547479:exon6:c.C378T:p.H126H Score=707;Name=lod=993 NA 12q21.2 NA NA NA NA rs4663 0.61 0.61 0.563 0.586462 0.5905 0.9554 0.6182 0.2489 0.636 0.59 0.97 0.55 0.25 0.6214 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 0.759271 NA NA 0.602466 0.316614 NA 0.471 NA 4.8523006 1175 16 2820882 2820882 G T UTR3 SRRM2 NM_016333:c.*14G>T NA NA UTR3 ENSG00000167978 ENST00000301740:c.*14G>T,ENST00000573692:c.*14G>T NA NA NA NA 16p13.3 NA NA Name=24 NA rs1050134 0.2 0.2 0.188 0.183506 0.166 0.2202 0.1326 0.2632 0.092 0.16 0.24 0.13 0.28 0.1634 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24493 NA NA 0.15186 0.24545 NA 0.167 NA 4.8520734 1175 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 1175 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 1175 17 42398757 42398757 C A intronic SLC25A39 NA NA NA exonic ENSG00000013306 NA nonsynonymous SNV ENSG00000013306:ENST00000593166:exon1:c.G136T:p.G46C NA NA 17q21.31 NA NA Name=3 NA rs2011895 0.65 0.65 0.64 0.68111 0.4036 0.9266 0.5778 0.7784 0.6554 0.41 0.92 0.57 0.77 0.5252 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 -0.721859 NA NA 0.386628 0.727644 NA 0.565 NA 4.8512387 1175 16 89258037 89258037 C G intronic CDH15 NA NA NA intronic ENSG00000129910 NA NA NA NA NA 16q24.3 NA NA Name=6 NA rs34314447 0.03 0.03 0.03 0.0173722 0.0487 NA 0.036 0.003 0.0092 0.05 NA 0.06 0.0041 0.0469 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 0.622384 NA NA 0.053298 0.010968 NA 0.022 NA 4.851102 1175 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 1175 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 1175 12 49314917 49314917 G C intronic CCDC65 NA NA NA intronic ENSG00000134287,ENSG00000139537 NA NA NA NA NA 12q13.12 NA Name=Pol2 NA NA rs79263537 0.02 0.02 0.018 0.0273562 0.0457 NA 0.0231 0.0038 0.0716 0.05 NA 0.03 0.01 0.0486 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 -0.4471 NA NA 0.055349 0.009305 NA 0.014 NA 4.850351 1175 6 157519938 157519938 A G intronic ARID1B NA NA NA intronic ENSG00000049618 NA NA NA NA NA 6q25.3 NA NA NA NA rs112318565 0.11 0.11 0.116 0.131789 0.0249 NA 0.0692 0.4387 0.0072 0.02 NA 0.07 0.42 0.0859 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196541 NA NA 0.038873 0.378121 NA 0.109 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114273.1;CLNDSDB=.;CLNDSDBID=. 4.850327 1175 1 161136843 161136843 C G intronic PPOX NA NA NA intronic ENSG00000143224 NA NA NA NA NA 1q23.3 NA Name=E2F6,E2F6_(H-50),TBP,ZBTB7A_(SC-34508),ZNF263 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 1175 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 1175 11 617378 617378 C T exonic CDHR5 NA synonymous SNV CDHR5:NM_031264:exon14:c.G1929A:p.A643A,CDHR5:NM_001171968:exon15:c.G2493A:p.A831A,CDHR5:NM_021924:exon15:c.G2511A:p.A837A exonic ENSG00000099834 NA synonymous SNV ENSG00000099834:ENST00000349570:exon14:c.G1929A:p.A643A,ENSG00000099834:ENST00000397542:exon15:c.G2511A:p.A837A,ENSG00000099834:ENST00000358353:exon16:c.G2511A:p.A837A NA NA 11p15.5 NA NA NA NA rs61877856 0.28 0.28 0.282 0.277157 0.2704 0.0208 0.304 0.5855 0.1125 0.26 0.01 0.35 0.58 0.2556 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.405165 NA NA 0.290901 0.516166 NA 0.319 NA 4.8497656 1175 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 1175 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 1175 17 73812909 73812909 A G exonic UNK NA synonymous SNV UNK:NM_001080419:exon8:c.A1020G:p.P340P exonic ENSG00000132478 NA synonymous SNV ENSG00000132478:ENST00000589666:exon8:c.A1020G:p.P340P,ENSG00000132478:ENST00000293218:exon9:c.A1248G:p.P416P Score=495;Name=lod=137 NA 17q25.1 Score=691;Name=V$P53_01 NA NA NA rs9908146 0.81 0.81 0.771 0.823283 0.9622 0.6161 0.9164 0.7496 0.9274 0.96 0.58 0.92 0.75 0.9038 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 1.049353 NA NA 0.952235 0.78637 NA 0.884 NA 4.8484316 1175 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 1175 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 1175 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 1175 11 113570852 113570852 C T exonic TMPRSS5 NA synonymous SNV TMPRSS5:NM_030770:exon2:c.G42A:p.Q14Q exonic ENSG00000166682 NA synonymous SNV ENSG00000166682:ENST00000299882:exon2:c.G42A:p.Q14Q,ENSG00000166682:ENST00000538091:exon2:c.G42A:p.Q14Q,ENSG00000166682:ENST00000544634:exon2:c.G42A:p.Q14Q NA NA 11q23.2 NA NA NA NA rs3802854 0.24 0.24 0.232 0.213858 0.2485 0.2619 0.1873 0.1135 0.2832 0.25 0.32 0.22 0.13 0.3431 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.407259 NA NA 0.227759 0.140756 NA 0.239 NA 4.8473076 1175 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 1175 5 70806711 70806711 C G exonic BDP1 NA nonsynonymous SNV BDP1:NM_018429:exon17:c.C3792G:p.I1264M exonic ENSG00000145734 NA nonsynonymous SNV ENSG00000145734:ENST00000358731:exon17:c.C3792G:p.I1264M NA NA 5q13.2 NA NA NA NA rs715747 0.79 0.79 0.781 0.790735 0.829 0.8899 0.8487 0.6074 0.8558 0.83 0.91 0.8 0.6 0.8254 0.91 0.25 T 0.0 B 0.0 B 0.302 N 1.000 P -0.69 N 2.79 T -1.021 T 0.000 T 0.023 -0.401 2.122 0.726 -0.073 -0.740 4.537 -0.401256 NA 0.36 0.831659 0.638646 NA 0.732 NA 4.8472744 1175 X 71379853 71379853 C T exonic FLJ44635 NA synonymous SNV FLJ44635:NM_207422:exon2:c.C174T:p.S58S ncRNA_exonic ENSG00000225471 NA NA NA Score=636;Name=lod=512 NA Xq13.1 NA NA NA NA rs7880917 0.42 0.42 0.41892 NA NA NA NA NA NA 0.73 0.04 0.55 0.27 0.5813 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526781 NA NA 0.739001 0.316819 NA 0.246 NA 4.8463656 1175 X 153880830 153880830 A C exonic CTAG2 NA synonymous SNV CTAG2:NM_020994:exon2:c.T345G:p.P115P,CTAG2:NM_172377:exon2:c.T345G:p.P115P exonic ENSG00000126890 NA synonymous SNV ENSG00000126890:ENST00000247306:exon2:c.T345G:p.P115P,ENSG00000126890:ENST00000369585:exon2:c.T345G:p.P115P NA NA Xq28 NA NA NA NA rs4326559 0.46 0.46 0.47138 NA NA NA NA NA NA 0.35 0.22 0.43 0.93 0.4406 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 -0.325583 NA NA 0.379869 0.881356 NA 0.406 NA 4.8461976 1175 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 1175 19 50983930 50983930 C T exonic EMC10 NA synonymous SNV EMC10:NM_175063:exon5:c.C495T:p.P165P,EMC10:NM_206538:exon5:c.C495T:p.P165P exonic ENSG00000161671 NA synonymous SNV ENSG00000161671:ENST00000334976:exon5:c.C495T:p.P165P,ENSG00000161671:ENST00000376918:exon5:c.C495T:p.P165P,ENSG00000161671:ENST00000598585:exon5:c.C495T:p.P165P NA NA 19q13.33 Score=764;Name=V$HTF_01 NA NA NA rs10409679 0.53 0.53 0.488 0.541534 0.5875 0.5556 0.6297 0.3389 0.6912 0.59 0.56 0.59 0.36 0.6475 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.54978 NA NA 0.58605 0.376825 ID=COSM1564294,COSM1564295;OCCURENCE=1(large_intestine) 0.558 NA 4.8456166 1175 1 236702374 236702374 G A exonic LGALS8 NA synonymous SNV LGALS8:NM_201544:exon4:c.G330A:p.L110L,LGALS8:NM_006499:exon5:c.G330A:p.L110L,LGALS8:NM_201543:exon5:c.G330A:p.L110L,LGALS8:NM_201545:exon5:c.G330A:p.L110L exonic ENSG00000116977 NA synonymous SNV ENSG00000116977:ENST00000525042:exon3:c.G330A:p.L110L,ENSG00000116977:ENST00000238181:exon4:c.G330A:p.L110L,ENSG00000116977:ENST00000323938:exon4:c.G249A:p.L83L,ENSG00000116977:ENST00000366584:exon4:c.G330A:p.L110L,ENSG00000116977:ENST00000416919:exon4:c.G330A:p.L110L,ENSG00000116977:ENST00000526634:exon4:c.G330A:p.L110L,ENSG00000116977:ENST00000527974:exon4:c.G330A:p.L110L,ENSG00000116977:ENST00000341872:exon5:c.G330A:p.L110L,ENSG00000116977:ENST00000352231:exon5:c.G330A:p.L110L,ENSG00000116977:ENST00000430527:exon5:c.G330A:p.L110L,ENSG00000116977:ENST00000450372:exon5:c.G330A:p.L110L,ENSG00000116977:ENST00000454943:exon6:c.G330A:p.L110L,ENSG00000116977:ENST00000406509:exon7:c.G330A:p.L110L,ENSG00000116977:ENST00000526589:exon7:c.G330A:p.L110L NA NA 1q43 Score=716;Name=V$NRSF_01 NA NA NA rs2472126 0.51 0.51 0.491 0.433307 0.6173 0.4752 0.464 0.2738 0.3947 0.65 0.49 0.52 0.32 0.5585 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.728049 NA NA 0.645465 0.411257 NA 0.507 NA 4.8454016 1175 1 154744807 154744807 C G exonic KCNN3 NA synonymous SNV KCNN3:NM_001204087:exon3:c.G1092C:p.L364L,KCNN3:NM_002249:exon3:c.G1092C:p.L364L,KCNN3:NM_170782:exon3:c.G177C:p.L59L exonic ENSG00000143603 NA synonymous SNV ENSG00000143603:ENST00000271915:exon3:c.G1092C:p.L364L,ENSG00000143603:ENST00000358505:exon3:c.G153C:p.L51L,ENSG00000143603:ENST00000361147:exon3:c.G177C:p.L59L Score=625;Name=lod=462 NA 1q21.3 NA NA NA NA rs1051614 0.53 0.53 0.543 0.535343 0.6252 0.5198 0.4625 0.4493 0.6268 0.62 0.5 0.51 0.46 0.5813 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.697395 NA NA 0.615 0.516341 NA 0.486 NA 4.8451666 1176 15 69327825 69327825 C T exonic NOX5 NA synonymous SNV NOX5:NM_001184779:exon6:c.C903T:p.T301T,NOX5:NM_001184780:exon6:c.C882T:p.T294T,NOX5:NM_024505:exon6:c.C987T:p.T329T exonic ENSG00000255346 NA synonymous SNV ENSG00000255346:ENST00000525143:exon3:c.C387T:p.T129T,ENSG00000255346:ENST00000388866:exon6:c.C987T:p.T329T,ENSG00000255346:ENST00000455873:exon6:c.C882T:p.T294T,ENSG00000255346:ENST00000530406:exon6:c.C903T:p.T301T,ENSG00000255346:ENST00000260364:exon7:c.C933T:p.T311T,ENSG00000255346:ENST00000448182:exon7:c.C849T:p.T283T NA NA 15q23 NA Name=p300,c-Myc,GR Name=15 NA rs311889 0.82 0.82 0.786 0.80651 0.9573 0.7391 0.9395 0.6142 0.8865 0.96 0.75 0.95 0.61 0.9072 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.675138 NA NA 0.957422 0.668182 NA 0.812 NA 4.8447446 1176 5 135276847 135276847 T C exonic FBXL21 NA unknown UNKNOWN exonic ENSG00000164616 NA unknown UNKNOWN Score=507;Name=lod=153 NA 5q31.1 Score=769;Name=V$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 1176 2 86259443 86259443 C T exonic POLR1A NA synonymous SNV POLR1A:NM_015425:exon29:c.G4224A:p.G1408G exonic ENSG00000068654 NA synonymous SNV ENSG00000068654:ENST00000263857:exon29:c.G4224A:p.G1408G,ENSG00000068654:ENST00000409681:exon29:c.G4224A:p.G1408G Score=432;Name=lod=76 NA 2p11.2 NA NA NA NA rs2276626 0.57 0.57 0.568 0.576877 0.5934 0.3611 0.4712 0.8283 0.5174 0.58 0.36 0.52 0.83 0.5874 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 0.224737 NA NA 0.641356 0.810118 ID=COSM148889;OCCURENCE=1(stomach) 0.652 NA 4.8445106 1176 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 1176 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 1176 5 10250430 10250430 G A UTR5 CCT5 NM_012073:c.-23G>A NA NA exonic ENSG00000150753 NA nonsynonymous SNV ENSG00000150753:ENST00000511700:exon1:c.G76A:p.E26K NA NA 5p15.2 NA Name=ELF1_(SC-631),HEY1,GABP,Pol2-4H8,NFKB,TAF1,E2F6_(H-50),E2F6,POU2F2,TAF7_(SQ-8),p300,TCF12,GATA-2,Pol2(phosphoS2),Pol2,eGFP-GATA2,GTF2F1_(RAP-74),ZNF263,PU.1,CEBPB,YY1,TR4,TBP,Pol2(b),eGFP-HDAC8,Mxi1_(bHLH),NRSF,BAF170,Sin3Ak-20,Nrf1,IRF1,SRF,Oct-2,c-Myc,YY1_(C-20),Max Name=148 NA rs2548546 0.75 0.75 0.697 0.685304 0.8509 0.879 0.7738 0.3873 0.6554 0.85 0.88 0.8 0.4 0.7889 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 2.594102 2.594102 NA 0.85 0.445529 NA 0.674 NA 4.8435334 1176 14 22636874 22636874 C T intergenic OR4E2,DAD1 dist=502636;dist=396933 NA NA exonic ENSG00000259092 NA synonymous SNV ENSG00000259092:ENST00000557168:exon2:c.C327T:p.C109C Score=235;Name=lod=12 NA 14q11.2 NA NA NA NA rs11157436 0.28 0.28 0.247 0.286542 0.1909 0.6141 0.2723 0.0582 0.3661 0.2 0.59 0.29 0.05 0.2653 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050931 NA NA 0.200412 0.082719 NA 0.101 NA 4.843388 1176 9 114982463 114982463 T C exonic PTBP3 NA nonsynonymous SNV PTBP3:NM_001244897:exon14:c.A1633G:p.T545A UTR3 ENSG00000119314 ENST00000458258:c.*3668A>G,ENST00000334318:c.*3668A>G,ENST00000374257:c.*3668A>G NA NA NA NA 9q32 NA NA Name=3 NA rs7855745 0.53 0.53 0.557 0.567492 0.4722 0.3948 0.4524 0.8676 0.5194 0.48 0.35 0.46 0.87 0.5548 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 0.377219 NA 0 0.463335 0.788813 NA 0.645 NA 4.8429984 1176 4 57627276 57627276 G A intergenic HOPX,SPINK2 dist=79404;dist=48750 NA NA ncRNA_exonic ENSG00000227040 NA NA NA Score=727;Name=lod=1202 NA 4q12 NA NA NA NA rs6844407 0.2 0.2 0.181 0.203674 0.1571 0.1667 0.1196 0.3253 0.1851 0.15 0.21 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 -0.243822 NA NA NA NA NA 0.174 NA 4.8429 1176 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 1176 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$PPARA_01 NA NA NA rs2296405 0.62 0.62 0.606 0.597444 0.6173 0.5536 0.5476 0.6657 0.5654 0.62 0.58 0.57 0.69 0.5881 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.131212 NA NA 0.618488 0.670382 NA 0.703 NA 4.8427786 1176 14 20444193 20444193 A C exonic OR4K15 NA synonymous SNV OR4K15:NM_001005486:exon1:c.A516C:p.S172S exonic ENSG00000169488 NA synonymous SNV ENSG00000169488:ENST00000305051:exon1:c.A516C:p.S172S NA NA 14q11.2 NA NA NA NA rs2318556 0.32 0.32 0.329 0.376398 0.2435 0.1498 0.2017 0.7481 0.3681 0.25 0.14 0.19 0.72 0.2958 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359693 NA NA 0.284601 0.690649 NA 0.413 NA 4.8427656 1176 17 43003484 43003484 T C exonic KIF18B NA synonymous SNV KIF18B:NM_001265577:exon16:c.A2523G:p.A841A exonic ENSG00000186185 NA synonymous SNV ENSG00000186185:ENST00000339151:exon16:c.A2532G:p.A844A,ENSG00000186185:ENST00000593135:exon16:c.A2523G:p.A841A NA NA 17q21.31 NA NA NA NA rs3169733 0.27 0.27 0.31 0.359026 0.2445 0.1488 0.3098 0.5779 0.4325 0.22 0.14 0.31 0.48 0.3049 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136089 NA NA 0.274656 0.51352 NA 0.283 NA 4.8426106 1176 8 142229891 142229891 A G exonic SLC45A4 NA synonymous SNV SLC45A4:NM_001080431:exon3:c.T315C:p.I105I exonic ENSG00000022567 NA synonymous SNV ENSG00000022567:ENST00000024061:exon3:c.T315C:p.I105I,ENSG00000022567:ENST00000433583:exon3:c.T294C:p.I98I,ENSG00000022567:ENST00000517878:exon3:c.T468C:p.I156I,ENSG00000022567:ENST00000519067:exon3:c.T315C:p.I105I,ENSG00000022567:ENST00000519986:exon3:c.T261C:p.I87I NA NA 8q24.3 Score=841;Name=V$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 1176 13 106142235 106142235 C T exonic DAOA NA synonymous SNV DAOA:NM_001161812:exon4:c.C183T:p.T61T exonic ENSG00000182346 NA synonymous SNV ENSG00000182346:ENST00000595812:exon4:c.C183T:p.T61T NA NA 13q33.2 NA NA NA NA rs778294 0.23 0.23 0.227 0.217053 0.2763 0.1081 0.2507 0.2405 0.2127 0.27 0.11 0.26 0.28 0.2635 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.600896 NA NA 0.285065 0.218294 NA 0.225 NA 4.8418016 1176 22 46931793 46931793 G C exonic CELSR1 NA synonymous SNV CELSR1:NM_014246:exon1:c.C1275G:p.L425L exonic ENSG00000075275 NA synonymous SNV ENSG00000075275:ENST00000262738:exon1:c.C1275G:p.L425L,ENSG00000075275:ENST00000395964:exon1:c.C1275G:p.L425L Score=558;Name=lod=248 NA 22q13.31 Score=815;Name=V$AP4_01 NA NA NA rs1009154 0.95 0.95 0.942 0.939896 0.9543 0.9742 0.9597 0.9077 0.9192 0.96 0.97 0.96 0.91 0.936 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 0.107261 NA NA 0.934661 0.890455 NA 0.891 NA 4.8417056 1176 2 187698751 187698751 G A exonic ZSWIM2 NA synonymous SNV ZSWIM2:NM_182521:exon6:c.C750T:p.T250T exonic ENSG00000163012 NA synonymous SNV ENSG00000163012:ENST00000295131:exon6:c.C750T:p.T250T NA NA 2q32.1 NA NA NA NA rs7559533 0.18 0.18 0.19 0.196286 0.2704 0.1131 0.2464 0.0976 0.3037 0.26 0.1 0.27 0.11 0.2603 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098847 NA NA 0.294302 0.12483 NA 0.196 NA 4.8416646 1176 1 247162658 247162658 C T exonic ZNF695 NA nonsynonymous SNV ZNF695:NM_001204221:exon3:c.G251A:p.R84K,ZNF695:NM_020394:exon3:c.G251A:p.R84K exonic ENSG00000135747,ENSG00000197472 NA nonsynonymous SNV ENSG00000197472:ENST00000339986:exon3:c.G251A:p.R84K,ENSG00000197472:ENST00000366504:exon3:c.G251A:p.R84K,ENSG00000135747:ENST00000465049:exon3:c.G215A:p.R72K,ENSG00000135747:ENST00000474541:exon3:c.G215A:p.R72K,ENSG00000197472:ENST00000479214:exon3:c.G215A:p.R72K,ENSG00000197472:ENST00000487338:exon3:c.G251A:p.R84K,ENSG00000197472:ENST00000491337:exon3:c.G251A:p.R84K NA NA 1q44 NA NA NA NA rs2642973 0.89 0.89 0.882 0.83107 0.833 0.9742 0.9265 0.8268 0.6196 0.85 0.98 0.91 0.85 0.827 0.98 1 T 0.0 B 0.002 B . . 1.000 P 0.69 N 5.79 T -0.924 T 0.000 T 0.046 -1.928 0.008 0.149 -1.257 -0.944 . -1.927999 NA 0.29 0.831721 0.825672 NA 0.913 NA 4.8416124 1176 11 130339312 130339312 T C exonic ADAMTS15 NA synonymous SNV ADAMTS15:NM_139055:exon5:c.T1698C:p.N566N exonic ENSG00000166106 NA synonymous SNV ENSG00000166106:ENST00000299164:exon5:c.T1698C:p.N566N Score=541;Name=lod=210 NA 11q24.3 NA NA NA NA rs731446 0.58 0.58 0.606 0.565495 0.6262 0.3552 0.4207 0.8011 0.5041 0.64 0.37 0.49 0.82 0.5798 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 1.295522 1.295522 NA 0.619851 0.766924 NA 0.667 NA 4.8408156 1176 2 27324724 27324724 G C exonic CGREF1 NA synonymous SNV CGREF1:NM_001166241:exon5:c.C87G:p.T29T,CGREF1:NM_001166239:exon6:c.C375G:p.T125T,CGREF1:NM_006569:exon6:c.C375G:p.T125T exonic ENSG00000138028 NA synonymous SNV ENSG00000138028:ENST00000404694:exon5:c.C741G:p.T247T,ENSG00000138028:ENST00000452318:exon5:c.C87G:p.T29T,ENSG00000138028:ENST00000260595:exon6:c.C375G:p.T125T,ENSG00000138028:ENST00000402394:exon6:c.C375G:p.T125T,ENSG00000138028:ENST00000405600:exon6:c.C375G:p.T125T,ENSG00000138028:ENST00000312734:exon7:c.C375G:p.T125T Score=467;Name=lod=105 NA 2p23.3 NA NA NA NA rs2384571 0.58 0.58 0.555 0.574681 0.6183 0.7669 0.4568 0.3775 0.682 0.64 0.73 0.48 0.37 0.5921 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 1.308118 1.308118 NA 0.615581 0.424648 NA 0.514 NA 4.8406856 1176 9 136531839 136531839 C G intronic SARDH NA NA NA intronic ENSG00000123453 NA NA NA NA NA 9q34.2 NA Name=ZNF263 NA NA rs12235666 0.05 0.05 0.039 0.0577077 0.0398 0.0595 0.0749 0.0166 0.1176 0.05 0.06 0.06 0.02 0.0885 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 -0.279077 NA NA 0.031417 0.017572 NA 0.007 NA 4.840283 1176 21 46330628 46330628 C T intronic ITGB2 NA NA NA UTR5 ENSG00000160255 ENST00000522688:c.-3678G>A,ENST00000524251:c.-3678G>A NA NA NA NA 21q22.3 NA NA NA NA rs2280965 0.14 0.14 0.108 0.148163 0.0984 0.3304 0.1686 0.0295 0.1575 0.09 0.29 0.13 0.03 0.1291 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344493 NA NA 0.098953 0.052429 NA 0.094 CLINSIG=untested;CLNDBN=Leukocyte_adhesion_deficiency_type_1;CLNREVSTAT=not;CLNACC=RCV000087121.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C1861766:116920:ORPHA2968:ORPHA99842 4.8402137 1176 2 202558687 202558687 C T UTR5 MPP4 NM_033066:c.-10G>A NA NA exonic ENSG00000082126 NA synonymous SNV ENSG00000082126:ENST00000409818:exon2:c.G30A:p.P10P,ENSG00000082126:ENST00000602867:exon2:c.G30A:p.P10P NA NA 2q33.1 NA NA NA NA rs10931969 0.03 0.03 0.028 0.033147 0.0547 NA 0.0692 0.0386 0.0123 0.05 NA 0.07 0.03 0.047 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 -0.087934 NA NA 0.058537 0.027925 NA 0.014 NA 4.839763 1176 1 888639 888639 T C exonic NOC2L NA synonymous SNV NOC2L:NM_015658:exon9:c.A918G:p.E306E exonic ENSG00000188976 NA synonymous SNV ENSG00000188976:ENST00000327044:exon9:c.A918G:p.E306E Score=389;Name=lod=51 NA 1p36.33 NA Name=ZNF263 NA NA rs3748596 0.93 0.93 0.918 0.922724 0.9533 0.9206 0.9193 0.907 0.9172 0.95 0.92 0.92 0.9 0.9356 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 -0.482059 NA NA 0.938256 0.90581 NA 0.942 NA 4.8395106 1176 11 68549340 68549340 A G exonic CPT1A NA synonymous SNV CPT1A:NM_001031847:exon11:c.T1251C:p.F417F,CPT1A:NM_001876:exon11:c.T1251C:p.F417F exonic ENSG00000110090 NA synonymous SNV ENSG00000110090:ENST00000539743:exon10:c.T1251C:p.F417F,ENSG00000110090:ENST00000540367:exon10:c.T1251C:p.F417F,ENSG00000110090:ENST00000265641:exon11:c.T1251C:p.F417F,ENSG00000110090:ENST00000376618:exon11:c.T1251C:p.F417F Score=429;Name=lod=74 NA 11q13.3 Score=878;Name=V$CREB_Q4 NA NA NA rs2228502 0.91 0.91 0.887 0.892572 0.9513 0.9058 0.9265 0.8048 0.9131 0.96 0.93 0.93 0.8 0.9313 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 -0.649412 NA NA 0.945272 0.847045 NA 0.884 NA 4.8387946 1176 7 121081052 121081052 C T intergenic FAM3C,PTPRZ1 dist=44630;dist=432107 NA NA ncRNA_exonic ENSG00000234985 NA NA NA Score=582;Name=lod=310 NA 7q31.31 NA Name=PAX5-C20,PAX5-N19 Name=17 NA rs6962156 0.6 0.6 0.58 0.539337 0.7505 0.6329 0.6556 0.2315 0.5593 0.75 0.67 0.66 0.26 0.668 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 0.129131 NA NA 0.742844 0.317893 NA 0.529 NA 4.838656 1176 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 1176 10 125528007 125528007 A G intronic CPXM2 NA NA NA intronic ENSG00000121898 NA NA NA NA NA 10q26.13 NA Name=CTCF Name=2 NA rs1219726 0.4 0.4 0.367 0.381989 0.3748 0.6012 0.4827 0.1558 0.3978 0.38 0.61 0.44 0.16 0.408 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.385567 NA NA 0.378721 0.193827 NA 0.312 NA 4.838479 1176 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 1176 13 95727780 95727780 T C exonic ABCC4 NA synonymous SNV ABCC4:NM_005845:exon22:c.A2712G:p.L904L exonic ENSG00000125257 NA synonymous SNV ENSG00000125257:ENST00000412704:exon21:c.A2571G:p.L857L,ENSG00000125257:ENST00000376887:exon22:c.A2712G:p.L904L Score=505;Name=lod=150 NA 13q32.1 Score=874;Name=V$GATA1_03 NA NA NA rs1678339 0.88 0.88 0.856 0.88778 0.9414 0.7946 0.9496 0.8495 0.9366 0.93 0.76 0.94 0.88 0.9283 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 1.166906 NA NA 0.958953 0.861099 NA 0.935 NA 4.8380136 1176 5 10250443 10250443 T C UTR5 CCT5 NM_012073:c.-10T>C NA NA exonic ENSG00000150753 NA nonsynonymous SNV ENSG00000150753:ENST00000511700:exon1:c.T89C:p.V30A NA NA 5p15.2 NA Name=ZNF263,GTF2F1_(RAP-74),eGFP-GATA2,Pol2(b),eGFP-HDAC8,TBP,TR4,YY1,CEBPB,PU.1,Sin3Ak-20,Mxi1_(bHLH),NRSF,Max,YY1_(C-20),c-Myc,Oct-2,SRF,Nrf1,IRF1,HEY1,ELF1_(SC-631),TAF1,NFKB,Pol2-4H8,GABP,p300,TCF12,TAF7_(SQ-8),E2F6,POU2F2,E2F6_(H-50),Pol2,Pol2(phosphoS2),GATA-2 Name=148 NA rs2578618 0.75 0.75 0.709 0.685304 0.8519 0.878 0.7738 0.3873 0.6554 0.85 0.88 0.8 0.4 0.7892 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 1.685054 1.685054 NA 0.854419 0.451884 NA 0.674 NA 4.8378144 1176 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 1176 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 1176 15 85163998 85163998 G C exonic ZSCAN2 NA nonsynonymous SNV ZSCAN2:NM_181877:exon3:c.G572C:p.S191T exonic ENSG00000176371 NA nonsynonymous SNV ENSG00000176371:ENST00000358472:exon2:c.G122C:p.S41T,ENSG00000176371:ENST00000485222:exon2:c.G572C:p.S191T,ENSG00000176371:ENST00000538076:exon2:c.G572C:p.S191T,ENSG00000176371:ENST00000540894:exon2:c.G572C:p.S191T,ENSG00000176371:ENST00000541040:exon2:c.G572C:p.S191T,ENSG00000176371:ENST00000327179:exon3:c.G569C:p.S190T,ENSG00000176371:ENST00000448803:exon3:c.G572C:p.S191T,ENSG00000176371:ENST00000546148:exon3:c.G572C:p.S191T NA NA 15q25.2 NA NA NA NA rs2044502 0.89 0.89 0.909 0.88119 0.8161 0.9484 0.8818 0.9455 0.7914 0.82 0.95 0.87 0.95 0.8486 0.95 . . 0.0 B 0.0 B 0.924 N 1.000 P 0 N 3.42 T -1.050 T 0.000 T 0.076 -2.609 0 1.64 0.113 -0.352 0.959 -2.608519 NA 0.41 0.831472 0.939401 NA 0.92 NA 4.8371614 1176 3 52492707 52492707 T C exonic NISCH NA synonymous SNV NISCH:NM_001276293:exon3:c.T207C:p.N69N,NISCH:NM_001276294:exon3:c.T207C:p.N69N,NISCH:NM_007184:exon3:c.T207C:p.N69N exonic ENSG00000010322 NA synonymous SNV ENSG00000010322:ENST00000345716:exon3:c.T207C:p.N69N,ENSG00000010322:ENST00000420808:exon3:c.T207C:p.N69N,ENSG00000010322:ENST00000488380:exon3:c.T207C:p.N69N,ENSG00000010322:ENST00000479054:exon4:c.T207C:p.N69N Score=517;Name=lod=168 NA 3p21.1 NA NA Name=8 NA rs1541495 0.95 0.95 0.951 0.955272 0.9334 0.9782 0.9337 0.9644 0.9571 0.94 0.98 0.92 0.95 0.9535 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 1.24999 1.24999 NA 0.942674 0.955969 NA 0.964 NA 4.8370926 1176 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 1176 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=Pol2-4H8,Pol2 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 1176 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 1176 14 96178173 96178173 G A intronic TCL1A NA NA NA ncRNA_exonic ENSG00000257275 NA NA NA NA NA 14q32.13 NA NA Name=5 NA rs2296311 0.21 0.21 0.221 0.217851 0.167 0.1131 0.1844 0.3737 0.1912 0.18 0.1 0.15 0.41 0.1785 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048659 NA NA 0.15186 0.342941 NA 0.283 NA 4.8359733 1176 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 1177 16 81209207 81209207 T C intronic PKD1L2 NA NA NA intronic ENSG00000166473,ENSG00000269323 NA NA NA NA NA 16q23.2 NA Name=p300,MafK_(ab50322),MafF_(M8194),MafK_(SC-477),JunD 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 1177 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 1177 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 1177 15 40627845 40627845 G A exonic C15orf52 NA synonymous SNV C15orf52:NM_207380:exon11:c.C1119T:p.S373S exonic ENSG00000188549 NA synonymous SNV ENSG00000188549:ENST00000558858:exon5:c.C93T:p.S31S,ENSG00000188549:ENST00000397536:exon7:c.C489T:p.S163S,ENSG00000188549:ENST00000559313:exon11:c.C1119T:p.S373S NA NA 15q15.1 NA NA NA NA rs55641696 0.15 0.15 0.145 0.146366 0.2803 0.0278 0.1686 0.0855 0.1973 0.29 0.02 0.15 0.08 0.2915 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33138 NA NA 0.261171 0.101699 NA 0.304 NA 4.8336956 1177 15 57731728 57731728 A G exonic CGNL1 NA nonsynonymous SNV CGNL1:NM_032866:exon2:c.A1531G:p.T511A,CGNL1:NM_001252335:exon3:c.A1531G:p.T511A exonic ENSG00000128849 NA nonsynonymous SNV ENSG00000128849:ENST00000281282:exon2:c.A1531G:p.T511A NA NA 15q21.3 NA NA NA NA rs1280396 0.85 0.85 0.846 0.862021 0.826 0.8472 0.889 0.8896 0.8579 0.82 0.85 0.88 0.88 0.8463 0.89 0.88 T 0.0 B 0.0 B 0.635 N 1.000 P 0 N 3.26 T -1.007 T 0.000 T 0.016 -1.647 0.013 1.46 0.074 0.369 1.489 -1.646607 NA 0.81 0.827586 0.885493 NA 0.884 NA 4.8334474 1177 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=SETDB1,ZNF274,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 1177 17 76395430 76395430 C T exonic PGS1 NA synonymous SNV PGS1:NM_024419:exon5:c.C513T:p.G171G exonic ENSG00000087157 NA synonymous SNV ENSG00000087157:ENST00000329897:exon4:c.C108T:p.G36G,ENSG00000087157:ENST00000589426:exon4:c.C435T:p.G145G,ENSG00000087157:ENST00000589689:exon4:c.C435T:p.G145G,ENSG00000087157:ENST00000262764:exon5:c.C513T:p.G171G Score=431;Name=lod=75 NA 17q25.3 NA NA NA NA rs2292642 0.59 0.59 0.556 0.581669 0.6233 0.5159 0.647 0.5825 0.5593 0.64 0.5 0.63 0.59 0.6023 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 0.31574 NA NA 0.607696 0.593675 NA 0.667 NA 4.8333706 1177 3 12046076 12046076 T C exonic SYN2 NA unknown UNKNOWN ncRNA_exonic ENSG00000157152 NA NA NA Score=627;Name=lod=470 NA 3p25.2 NA Name=ZBTB7A_(SC-34508) NA NA rs2618395 1 1 1 1 1 1 1 1 1 0.99 1 0.99 0.99 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 1.089902 NA NA NA NA NA NA NA 4.8333333 1177 11 102738795 102738795 G T exonic MMP12 NA unknown UNKNOWN ncRNA_exonic ENSG00000110347 NA NA NA Score=501;Name=lod=145 NA 11q22.2 NA NA NA NA rs5003690 NA NA NA NA NA NA NA NA NA NA NA NA 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 NA -0.120255 NA 1 NA NA NA NA NA 4.8333333 1177 17 79429852 79429852 C T exonic BAHCC1 NA unknown UNKNOWN exonic ENSG00000171282 NA synonymous SNV ENSG00000171282:ENST00000307745:exon31:c.C7470T:p.A2490A NA NA 17q25.3 NA NA NA NA rs8746 0.17 0.17 0.181 0.140375 0.173 0.254 0.1427 0.0446 0.1176 0.18 0.28 0.14 0.05 0.1598 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.653458 NA NA 0.167734 0.073264 NA 0.159 NA 4.8327993 1177 16 1559838 1559838 T C exonic TELO2 NA synonymous SNV TELO2:NM_016111:exon21:c.T2415C:p.A805A exonic ENSG00000100726 NA synonymous SNV ENSG00000100726:ENST00000262319:exon21:c.T2415C:p.A805A NA NA 16p13.3 NA NA NA NA rs3180228 0.38 0.38 0.406 0.421725 0.2455 0.4226 0.2147 0.6876 0.3896 0.25 0.38 0.24 0.68 0.3305 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.701758 NA NA 0.257967 0.619818 NA 0.377 NA 4.8326996 1177 13 95726541 95726541 A G exonic ABCC4 NA synonymous SNV ABCC4:NM_005845:exon23:c.T2844C:p.F948F exonic ENSG00000125257 NA synonymous SNV ENSG00000125257:ENST00000412704:exon22:c.T2703C:p.F901F,ENSG00000125257:ENST00000376887:exon23:c.T2844C:p.F948F Score=407;Name=lod=60 NA 13q32.1 NA NA Name=33 NA rs1189466 0.89 0.89 0.871 0.903554 0.9414 0.7956 0.9553 0.9054 0.9366 0.93 0.77 0.95 0.93 0.9335 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 0.181982 NA NA 0.95907 0.91852 NA 0.942 NA 4.8326966 1177 16 69356612 69356612 C G intronic VPS4A NA NA NA intronic ENSG00000132612 NA NA NA NA NA 16q22.1 NA NA Name=4 NA rs72795271 0.05 0.05 0.046 0.0505192 0.0527 0.0179 0.0562 0.0522 0.0757 0.06 0.02 0.06 0.05 0.0543 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 0.018335 NA NA 0.060489 0.054692 NA 0.101 NA 4.832511 1177 2 218683368 218683368 C T exonic TNS1 NA synonymous SNV TNS1:NM_022648:exon24:c.G3375A:p.P1125P exonic ENSG00000079308 NA synonymous SNV ENSG00000079308:ENST00000446688:exon6:c.G789A:p.P263P,ENSG00000079308:ENST00000430930:exon21:c.G3312A:p.P1104P,ENSG00000079308:ENST00000419504:exon22:c.G3336A:p.P1112P,ENSG00000079308:ENST00000171887:exon24:c.G3375A:p.P1125P NA NA 2q35 NA NA NA NA rs34144104 0.22 0.22 0.197 0.215256 0.2654 0.2292 0.3156 0.0643 0.2822 0.27 0.24 0.3 0.07 0.2731 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061682 NA NA 0.296163 0.091012 ID=COSM442299;OCCURENCE=1(breast),1(prostate) 0.203 NA 4.8320036 1177 19 35622695 35622695 A G exonic LGI4 NA synonymous SNV LGI4:NM_139284:exon5:c.T456C:p.H152H exonic ENSG00000153902 NA synonymous SNV ENSG00000153902:ENST00000310123:exon5:c.T456C:p.H152H,ENSG00000153902:ENST00000392225:exon5:c.T456C:p.H152H,ENSG00000153902:ENST00000591633:exon5:c.T456C:p.H152H Score=547;Name=lod=222 NA 19q13.12 Score=968;Name=V$AP1_C NA NA NA rs1673007 0.97 0.97 0.957 0.96905 0.9374 0.998 0.9726 0.9924 0.9376 0.93 1 0.96 0.98 0.954 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.19399 NA NA 0.94342 0.989071 NA 0.949 NA 4.8318466 1177 13 78475313 78475313 T C exonic EDNRB NA synonymous SNV EDNRB:NM_001122659:exon4:c.A831G:p.L277L,EDNRB:NM_003991:exon4:c.A831G:p.L277L,EDNRB:NM_000115:exon5:c.A831G:p.L277L,EDNRB:NM_001201397:exon5:c.A1101G:p.L367L exonic ENSG00000136160 NA synonymous SNV ENSG00000136160:ENST00000334286:exon4:c.A831G:p.L277L,ENSG00000136160:ENST00000446573:exon4:c.A831G:p.L277L,ENSG00000136160:ENST00000377211:exon5:c.A1101G:p.L367L Score=590;Name=lod=334 NA 13q22.3 NA NA NA NA rs5351 0.55 0.55 0.539 0.544728 0.6412 0.3512 0.5764 0.5847 0.5685 0.65 0.38 0.56 0.57 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 1.13551 NA NA 0.61398 0.565138 NA 0.594 NA 4.8315866 1177 3 164764719 164764719 C A exonic SI NA synonymous SNV SI:NM_001041:exon16:c.G1797T:p.A599A exonic ENSG00000090402 NA synonymous SNV ENSG00000090402:ENST00000264382:exon16:c.G1797T:p.A599A NA NA 3q26.1 Score=900;Name=V$NFY_01 NA NA NA rs9838509 0.64 0.64 0.637 0.608626 0.6282 0.8284 0.6225 0.4675 0.5429 0.63 0.83 0.59 0.45 0.6098 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.154957 NA NA 0.597558 0.48502 ID=COSM1130299;OCCURENCE=1(prostate) 0.638 NA 4.8311086 1177 3 97660084 97660084 C T exonic CRYBG3 NA synonymous SNV CRYBG3:NM_153605:exon20:c.C8598T:p.C2866C exonic ENSG00000080200 NA synonymous SNV ENSG00000080200:ENST00000495403:exon4:c.C372T:p.C124C,ENSG00000080200:ENST00000389622:exon5:c.C375T:p.C125C,ENSG00000080200:ENST00000182096:exon17:c.C2754T:p.C918C NA NA 3q11.2 NA NA NA NA rs11544446 0.21 0.21 0.17 0.201278 0.2823 0.1528 0.3098 0.112 0.2117 0.29 0.13 0.33 0.11 0.2696 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449808 NA NA 0.283695 0.123936 NA 0.254 NA 4.8310716 1177 8 124027628 124027628 T C UTR3 DERL1 NM_024295:c.*59A>G,NM_001134671:c.*59A>G NA NA ncRNA_UTR3 ENSG00000136986 NA NA NA NA NA 8q24.13 NA Name=Pol2 NA NA rs7159 0.63 0.63 0.592 0.634185 0.669 0.7014 0.6542 0.497 0.7004 0.68 0.68 0.65 0.49 NA 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68926 NA NA NA NA NA 0.681 NA 4.831 1177 8 144351632 144351632 A G exonic GLI4 NA synonymous SNV GLI4:NM_138465:exon2:c.A66G:p.P22P exonic ENSG00000250571 NA synonymous SNV ENSG00000250571:ENST00000344692:exon1:c.A66G:p.P22P,ENSG00000250571:ENST00000517468:exon1:c.A66G:p.P22P,ENSG00000250571:ENST00000520021:exon1:c.A66G:p.P22P,ENSG00000250571:ENST00000523522:exon1:c.A66G:p.P22P,ENSG00000250571:ENST00000340042:exon2:c.A66G:p.P22P,ENSG00000250571:ENST00000521682:exon2:c.A66G:p.P22P NA NA 8q24.3 Score=843;Name=V$GR_Q6 Name=Pol2-4H8 NA NA rs6558341 0.97 0.97 0.975 0.980232 0.9453 1 0.9683 0.997 0.9816 0.94 1 0.97 1 0.9521 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.674935 NA NA 0.938372 0.988879 NA 0.971 NA 4.8308946 1177 19 9083124 9083124 G A exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon1:c.C8691T:p.V2897V exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon1:c.C8691T:p.V2897V NA NA 19p13.2 NA NA NA NA rs12608495 0.15 0.15 0.144 0.138978 0.3042 0.0496 0.1527 0.0174 0.2157 0.3 0.04 0.17 0.02 0.2287 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095777 NA NA 0.304026 0.071203 ID=COSM148498,COSM148497;OCCURENCE=1(stomach) 0.174 NA 4.8297406 1177 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 1177 17 42925559 42925559 C T exonic HIGD1B NA synonymous SNV HIGD1B:NM_016438:exon1:c.C39T:p.D13D,HIGD1B:NM_001271880:exon2:c.C39T:p.D13D exonic ENSG00000131097 NA synonymous SNV ENSG00000131097:ENST00000253410:exon1:c.C39T:p.D13D,ENSG00000131097:ENST00000587021:exon1:c.C39T:p.D13D,ENSG00000131097:ENST00000591513:exon2:c.C39T:p.D13D NA NA 17q21.31 NA Name=Pol2 NA NA rs12164 0.64 0.64 0.645 0.652556 0.5895 0.5446 0.5476 0.8215 0.6748 0.59 0.55 0.6 0.84 0.6287 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 -1.396801 NA NA 0.618837 0.789605 NA 0.558 NA 4.8296296 1177 5 76129053 76129053 T C exonic F2RL1 NA synonymous SNV F2RL1:NM_005242:exon2:c.T621C:p.I207I exonic ENSG00000164251 NA synonymous SNV ENSG00000164251:ENST00000296677:exon2:c.T621C:p.I207I Score=410;Name=lod=62 NA 5q13.3 Score=793;Name=V$ER_Q6 NA NA NA rs631465 0.85 0.85 0.871 0.881989 0.9612 0.5317 0.951 0.9985 0.955 0.97 0.52 0.95 1 0.9225 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.975585 NA NA 0.953605 0.989333 NA 0.913 NA 4.8293616 1177 8 110482900 110482900 T C intronic PKHD1L1 NA NA NA ncRNA_exonic ENSG00000254185 NA NA NA Score=786;Name=lod=2094 NA 8q23.1 NA NA NA NA rs1783152 0.47 0.47 0.386 0.515775 0.504 0.4157 0.634 0.3918 0.7147 0.5 0.44 0.61 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 2.377253 2.377253 NA NA NA NA 0.558 NA 4.8293333 1177 19 57335022 57335022 G A exonic PEG3,ZIM2 NA synonymous SNV PEG3:NM_001146186:exon2:c.C420T:p.S140S,PEG3:NM_001146184:exon4:c.C420T:p.S140S,PEG3:NM_001146185:exon4:c.C42T:p.S14S,PEG3:NM_001146187:exon4:c.C42T:p.S14S,ZIM2:NM_015363:exon4:c.C42T:p.S14S,ZIM2:NM_001146326:exon5:c.C42T:p.S14S,ZIM2:NM_001146327:exon5:c.C42T:p.S14S,PEG3:NM_006210:exon5:c.C420T:p.S140S exonic ENSG00000198300,ENSG00000269699 NA synonymous SNV ENSG00000269699:ENST00000593931:exon2:c.C42T:p.S14S,ENSG00000198300:ENST00000599534:exon2:c.C420T:p.S140S,ENSG00000198300:ENST00000600833:exon2:c.C42T:p.S14S,ENSG00000269699:ENST00000595671:exon3:c.C42T:p.S14S,ENSG00000269699:ENST00000221722:exon4:c.C42T:p.S14S,ENSG00000198300:ENST00000423103:exon4:c.C420T:p.S140S,ENSG00000198300:ENST00000593695:exon4:c.C42T:p.S14S,ENSG00000269699:ENST00000593711:exon4:c.C42T:p.S14S,ENSG00000269699:ENST00000597281:exon4:c.C42T:p.S14S,ENSG00000198300:ENST00000598410:exon4:c.C42T:p.S14S,ENSG00000198300:ENST00000599577:exon4:c.C420T:p.S140S,ENSG00000269699:ENST00000601070:exon4:c.C42T:p.S14S,ENSG00000198300:ENST00000326441:exon5:c.C420T:p.S140S,ENSG00000269699:ENST00000391708:exon5:c.C42T:p.S14S,ENSG00000269699:ENST00000599935:exon5:c.C42T:p.S14S NA NA 19q13.43 NA NA NA NA rs1860565 0.21 0.21 0.192 0.203674 0.2773 0.1677 0.3285 0.0424 0.2945 0.28 0.19 0.3 0.04 0.274 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.042914 NA NA 0.286279 0.077167 NA 0.181 NA 4.8290876 1177 16 1392877 1392877 T C intronic BAIAP3 NA NA NA intronic ENSG00000007516 NA NA NA NA NA 16p13.3 NA Name=TCF12,ZNF263,Sin3Ak-20 Name=4 NA rs742458 0.51 0.51 0.506 0.497204 0.3738 0.7738 0.3012 0.5151 0.454 0.35 0.82 0.32 0.52 0.4197 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 0.57543 NA NA 0.377532 0.494305 NA 0.514 NA 4.828968 1177 19 1271274 1271274 C T intronic CIRBP NA NA NA exonic ENSG00000099622 NA nonsynonymous SNV ENSG00000099622:ENST00000590347:exon3:c.C239T:p.P80L,ENSG00000099622:ENST00000591055:exon3:c.C239T:p.P80L NA NA 19p13.3 NA Name=Pol2-4H8,Pol2 Name=3 NA rs12609287 0.79 0.79 0.755 0.768171 0.7913 0.9663 0.8112 0.5779 0.7669 0.79 0.97 0.78 0.58 0.7849 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 0.438647 NA 0.45 0.761512 0.618021 NA 0.732 NA 4.8289547 1177 14 96180242 96180242 C A intronic TCL1A NA NA NA ncRNA_intronic ENSG00000257275 NA NA NA NA NA 14q32.13 NA Name=NFKB,Pol2,ZNF263,PAX5-N19,PAX5-C20 NA NA rs1122138 0.21 0.21 0.216 0.220847 0.173 0.1141 0.1902 0.3737 0.1953 0.19 0.1 0.15 0.41 0.1745 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180421 NA NA 0.157093 0.339991 NA 0.254 NA 4.8287403 1177 11 113569575 113569575 T G intronic TMPRSS5 NA NA NA UTR3 ENSG00000166682 ENST00000538091:c.*349A>C NA NA NA NA 11q23.2 NA NA Name=4 NA rs10891587 0.29 0.29 0.274 0.255791 0.338 0.2629 0.2622 0.1195 0.3436 0.34 0.32 0.3 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 -0.006779 NA NA NA NA NA 0.319 NA 4.8286667 1177 5 170819887 170819887 G A intronic NPM1 NA NA NA intronic ENSG00000181163 NA NA NA NA NA 5q35.1 NA Name=CTCF Name=3 NA rs3830035 0.43 0.43 0.426 0.457468 0.3817 0.5268 0.4236 0.4327 0.5215 0.37 0.55 0.41 0.41 0.4135 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.488441 NA NA 0.376512 0.426203 NA 0.391 NA 4.828288 1177 22 37271882 37271882 T C exonic NCF4 NA nonsynonymous SNV NCF4:NM_013416:exon8:c.T815C:p.L272P exonic ENSG00000100365 NA nonsynonymous SNV ENSG00000100365:ENST00000397147:exon8:c.T815C:p.L272P NA NA 22q12.3 NA NA NA NA rs2075939 0.82 0.82 0.798 0.828075 0.836 0.6825 0.8386 0.9667 0.7751 0.83 0.7 0.81 0.97 0.8337 0.97 . . 0.0 B 0.0 B 0.000 N 1.000 P . . 0.24 T -0.957 T 0.000 T 0.186 1.643 11.45 -0.74 -0.408 0.294 7.415 1.642568 1.642568 0 0.835349 0.937812 NA 0.891 NA 4.8282844 1177 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 1177 19 1044975 1044975 C G intronic ABCA7 NA NA NA intronic ENSG00000064687 NA NA NA NA NA 19p13.3 NA Name=E2F6,ZBTB7A_(SC-34508),Egr-1 NA NA rs3764649 0.04 0.04 0.04 0.0461262 0.0646 0.0139 0.0216 0.025 0.1063 0.08 0.01 0.04 0.02 0.0561 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 0.570728 NA NA 0.051431 0.026794 NA 0.007 NA 4.827869 1177 11 64972354 64972354 A T intronic CAPN1 NA NA NA intronic ENSG00000014216 NA NA NA NA NA 11q13.1 NA Name=Rad21,NANOG_(SC-33759),Egr-1,SMC3_(ab9263),CTCFL_(SC-98982),ZNF263,CTCF,CTCF_(SC-5916),Znf143_(16618-1-AP),CTCF_(C-20) 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 1177 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 1177 1 110295772 110295772 T C exonic EPS8L3 NA synonymous SNV EPS8L3:NM_024526:exon13:c.A1167G:p.S389S,EPS8L3:NM_133181:exon13:c.A1167G:p.S389S,EPS8L3:NM_139053:exon13:c.A1170G:p.S390S exonic ENSG00000198758 NA synonymous SNV ENSG00000198758:ENST00000361852:exon13:c.A1167G:p.S389S,ENSG00000198758:ENST00000361965:exon13:c.A1167G:p.S389S,ENSG00000198758:ENST00000369805:exon13:c.A1170G:p.S390S NA NA 1p13.3 Score=758;Name=V$STAT5A_02 NA NA NA rs1887547 0.75 0.75 0.744 0.770168 0.5795 0.8601 0.6816 0.9123 0.7444 0.61 0.86 0.67 0.9 0.6614 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 0.0772 NA NA 0.598953 0.865638 NA 0.746 NA 4.8268136 1177 16 68713730 68713730 G A exonic CDH3 NA synonymous SNV CDH3:NM_001793:exon7:c.G720A:p.T240T exonic ENSG00000062038 NA synonymous SNV ENSG00000062038:ENST00000581171:exon6:c.G555A:p.T185T,ENSG00000062038:ENST00000264012:exon7:c.G720A:p.T240T,ENSG00000062038:ENST00000429102:exon7:c.G720A:p.T240T NA NA 16q22.1 Score=710;Name=V$HOX13_01 NA NA NA rs2296409 0.63 0.63 0.617 0.607827 0.6223 0.6141 0.5476 0.6679 0.5481 0.62 0.61 0.57 0.69 0.594 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.607707 NA NA 0.623605 0.672657 NA 0.703 NA 4.8267616 1177 11 1151695 1151695 C T intergenic MUC2,MUC5B dist=47278;dist=92600 NA NA exonic ENSG00000215182 NA synonymous SNV ENSG00000215182:ENST00000356191:exon1:c.C69T:p.H23H,ENSG00000215182:ENST00000534821:exon1:c.C69T:p.H23H Score=300;Name=lod=22 NA 11p15.5 NA NA NA NA rs28737416 0.32 0.32 0.328 0.384984 0.1909 0.3155 0.3458 0.6059 0.3855 0.19 0.26 0.3 0.62 0.2978 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.325321 NA NA 0.184635 0.534422 NA 0.326 NA 4.826665 1177 12 72416235 72416235 A T exonic TPH2 NA synonymous SNV TPH2:NM_173353:exon9:c.A1125T:p.A375A exonic ENSG00000139287 NA synonymous SNV ENSG00000139287:ENST00000333850:exon9:c.A1125T:p.A375A NA NA 12q21.1 Score=838;Name=V$AP4_01 NA NA NA rs4290270 0.49 0.49 0.496 0.48722 0.6233 0.4663 0.4899 0.385 0.5051 0.58 0.48 0.49 0.37 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 1.452022 1.452022 NA 0.643605 0.415116 NA 0.572 NA 4.8265616 1177 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 1177 17 53851228 53851228 C T exonic PCTP NA synonymous SNV PCTP:NM_001102402:exon4:c.C267T:p.I89I,PCTP:NM_021213:exon4:c.C483T:p.I161I exonic ENSG00000141179 NA synonymous SNV ENSG00000141179:ENST00000572536:exon1:c.C132T:p.I44I,ENSG00000141179:ENST00000268896:exon4:c.C483T:p.I161I,ENSG00000141179:ENST00000325214:exon4:c.C267T:p.I89I,ENSG00000141179:ENST00000573500:exon4:c.C483T:p.I161I,ENSG00000141179:ENST00000576183:exon4:c.C483T:p.I161I Score=466;Name=lod=104 NA 17q22 Score=892;Name=V$CDPCR1_01 NA NA NA rs2960062 0.81 0.81 0.785 0.777955 0.9612 0.9405 0.8487 0.3691 0.9243 0.96 0.94 0.86 0.38 0.9098 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 2.843376 2.843376 NA 0.969535 0.493191 NA 0.739 NA 4.8261316 1177 17 45811354 45811354 C G intronic TBX21 NA NA NA intronic ENSG00000073861 NA NA NA NA NA 17q21.32 NA NA Name=10 NA rs41444548 0.03 0.03 0.024 0.0219649 0.0646 NA 0.0259 0.0038 0.0225 0.06 NA 0.03 0.0041 0.0473 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 0.56686 NA NA 0.062711 0.014551 NA 0.029 NA 4.825389 1177 10 102568983 102568983 A C exonic PAX2 NA synonymous SNV PAX2:NM_000278:exon7:c.A909C:p.P303P,PAX2:NM_003988:exon7:c.A909C:p.P303P,PAX2:NM_003989:exon7:c.A909C:p.P303P,PAX2:NM_003987:exon8:c.A978C:p.P326P,PAX2:NM_003990:exon8:c.A978C:p.P326P exonic ENSG00000075891 NA synonymous SNV ENSG00000075891:ENST00000554172:exon6:c.A897C:p.P299P,ENSG00000075891:ENST00000355243:exon7:c.A909C:p.P303P,ENSG00000075891:ENST00000361791:exon7:c.A909C:p.P303P,ENSG00000075891:ENST00000556085:exon7:c.A906C:p.P302P,ENSG00000075891:ENST00000370296:exon8:c.A978C:p.P326P,ENSG00000075891:ENST00000428433:exon8:c.A978C:p.P326P NA NA 10q24.31 NA NA NA NA rs1800898 0.34 0.34 0.38 0.375799 0.2594 0.0982 0.2363 0.8215 0.2781 0.26 0.11 0.28 0.77 0.2964 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 -0.539285 NA NA 0.285814 0.740127 NA 0.435 NA 4.8250526 1177 3 128890350 128890350 G A exonic CNBP NA synonymous SNV CNBP:NM_001127192:exon3:c.C156T:p.D52D,CNBP:NM_001127193:exon3:c.C156T:p.D52D,CNBP:NM_001127194:exon3:c.C135T:p.D45D,CNBP:NM_001127195:exon3:c.C135T:p.D45D,CNBP:NM_001127196:exon3:c.C135T:p.D45D,CNBP:NM_003418:exon3:c.C156T:p.D52D exonic ENSG00000169714 NA synonymous SNV ENSG00000169714:ENST00000422453:exon3:c.C156T:p.D52D,ENSG00000169714:ENST00000441626:exon3:c.C156T:p.D52D,ENSG00000169714:ENST00000446936:exon3:c.C135T:p.D45D,ENSG00000169714:ENST00000451728:exon3:c.C156T:p.D52D,ENSG00000169714:ENST00000500450:exon3:c.C105T:p.D35D,ENSG00000169714:ENST00000502976:exon3:c.C135T:p.D45D,ENSG00000169714:ENST00000504813:exon3:c.C126T:p.D42D,ENSG00000169714:ENST00000512338:exon3:c.C138T:p.D46D Score=654;Name=lod=605 NA 3q21.3 NA NA Name=4 NA rs4303883 0.81 0.81 0.778 0.757188 0.9821 0.8879 0.8674 0.3555 0.8558 0.98 0.9 0.87 0.41 0.89 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 1.413529 1.413529 NA 0.969535 0.443259 NA 0.761 NA 4.8250316 1178 19 9047305 9047305 G A exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon5:c.C34326T:p.H11442H exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon5:c.C34326T:p.H11442H NA NA 19p13.2 NA NA NA NA rs10415818 0.18 0.18 0.182 0.183307 0.2823 0.0258 0.1945 0.177 0.2444 0.29 0.02 0.2 0.18 0.2572 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.377937 NA NA 0.302284 0.172448 NA 0.254 NA 4.8248826 1178 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 1178 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 1178 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 1178 2 160005600 160005600 G A intronic TANC1 NA NA NA intronic ENSG00000115183 NA NA NA NA NA 2q24.2 NA NA Name=14 NA rs72951453 0.11 0.11 0.107 0.109026 0.1759 0.13 0.0778 0.0068 0.1789 0.17 0.1 0.1 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 3.625854 3.625854 NA NA NA NA 0.145 NA 4.8241 1178 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 1178 1 28861636 28861636 G A exonic RCC1 NA synonymous SNV RCC1:NM_001269:exon5:c.G516A:p.V172V,RCC1:NM_001048194:exon6:c.G609A:p.V203V,RCC1:NM_001048195:exon6:c.G567A:p.V189V,RCC1:NM_001048199:exon7:c.G516A:p.V172V exonic ENSG00000180198 NA synonymous SNV ENSG00000180198:ENST00000373832:exon5:c.G516A:p.V172V,ENSG00000180198:ENST00000430407:exon5:c.G516A:p.V172V,ENSG00000180198:ENST00000373831:exon6:c.G609A:p.V203V,ENSG00000180198:ENST00000411533:exon6:c.G567A:p.V189V,ENSG00000180198:ENST00000419074:exon6:c.G516A:p.V172V,ENSG00000180198:ENST00000398958:exon7:c.G516A:p.V172V,ENSG00000180198:ENST00000427469:exon7:c.G516A:p.V172V,ENSG00000180198:ENST00000373833:exon8:c.G516A:p.V172V,ENSG00000180198:ENST00000434290:exon9:c.G624A:p.V208V NA NA 1p35.3 NA NA NA NA rs2066726 0.25 0.25 0.232 0.223842 0.3072 0.0724 0.2478 0.3101 0.1605 0.31 0.1 0.26 0.33 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 -1.089657 NA NA 0.272326 0.296414 NA 0.275 NA 4.8234406 1178 17 76525565 76525565 A G exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon22:c.T3496C:p.L1166L exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon22:c.T3496C:p.L1166L,ENSG00000187775:ENST00000585328:exon22:c.T3487C:p.L1163L NA NA 17q25.3 Score=876;Name=V$NKX22_01 NA NA NA rs4273108 0.62 0.62 0.623 0.595048 0.6282 0.5933 0.598 0.6778 0.4489 0.62 0.59 0.62 0.66 0.5904 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 -0.329156 NA NA 0.624706 0.630262 NA 0.522 NA 4.8233606 1178 11 60296834 60296834 A G intronic MS4A13 NA NA NA intronic ENSG00000204979 NA NA NA Score=346;Name=lod=34 NA 11q12.2 NA NA NA NA rs12802514 0.06 0.06 0.05 0.057508 0.0666 0.128 0.036 0.003 0.0644 0.06 0.13 0.04 0.0041 0.0594 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.410863 1.410863 NA 0.050698 0.008852 NA 0.058 NA 4.823302 1178 2 205829991 205829991 C T exonic PARD3B NA synonymous SNV PARD3B:NM_057177:exon3:c.C339T:p.A113A,PARD3B:NM_152526:exon3:c.C339T:p.A113A,PARD3B:NM_205863:exon3:c.C339T:p.A113A exonic ENSG00000116117 NA synonymous SNV ENSG00000116117:ENST00000349953:exon3:c.C339T:p.A113A,ENSG00000116117:ENST00000351153:exon3:c.C339T:p.A113A,ENSG00000116117:ENST00000358768:exon3:c.C339T:p.A113A,ENSG00000116117:ENST00000406610:exon3:c.C339T:p.A113A,ENSG00000116117:ENST00000462231:exon3:c.C339T:p.A113A Score=513;Name=lod=162 NA 2q33.3 NA NA NA NA rs236843 0.76 0.76 0.778 0.803714 0.6153 0.7718 0.7536 0.9629 0.8507 0.63 0.79 0.71 0.95 0.6611 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 -0.253197 NA NA 0.567 0.879264 ID=COSM1404698,COSM1404699,COSM1404700;OCCURENCE=1(large_intestine) 0.804 NA 4.8232666 1178 3 164773057 164773057 G A exonic SI NA synonymous SNV SI:NM_001041:exon13:c.C1437T:p.N479N exonic ENSG00000090402 NA synonymous SNV ENSG00000090402:ENST00000264382:exon13:c.C1437T:p.N479N Score=507;Name=lod=154 NA 3q26.1 NA NA NA NA rs9290257 0.64 0.64 0.617 0.61901 0.6312 0.8313 0.6225 0.4735 0.5818 0.64 0.83 0.59 0.45 0.6138 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 0.422169 NA NA 0.598721 0.490241 NA 0.623 NA 4.8229456 1178 17 18380154 18380154 A G UTR5 LGALS9C NM_001040078:c.-15A>G NA NA UTR5 ENSG00000171916 ENST00000581545:c.-15A>G,ENST00000577691:c.-15A>G,ENST00000582333:c.-15A>G,ENST00000328114:c.-15A>G,ENST00000412421:c.-9227A>G,ENST00000579773:c.-15A>G,ENST00000583322:c.-15A>G,ENST00000584941:c.-15A>G,ENST00000580674:c.-15A>G NA NA NA NA 17p11.2 NA NA Name=14 NA rs1682220 NA NA 0.386 NA NA NA NA NA NA NA NA NA NA 0.5112 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.375564 NA NA NA NA NA NA NA 4.8221334 1178 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 1178 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 1178 1 31351513 31351513 G A exonic SDC3 NA synonymous SNV SDC3:NM_014654:exon2:c.C213T:p.P71P exonic ENSG00000162512 NA synonymous SNV ENSG00000162512:ENST00000339394:exon2:c.C213T:p.P71P NA NA 1p35.2 NA NA NA NA rs1891419 0.18 0.18 0.147 0.177915 0.3042 0.1111 0.2795 0.0295 0.2454 0.3 0.09 0.27 0.04 0.2595 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.235596 1.235596 NA 0.282326 0.075806 NA 0.152 NA 4.8206406 1178 3 155481609 155481609 G A exonic C3orf33 NA synonymous SNV C3orf33:NM_173657:exon6:c.C453T:p.Y151Y exonic ENSG00000174928 NA synonymous SNV ENSG00000174928:ENST00000340171:exon5:c.C582T:p.Y194Y,ENSG00000174928:ENST00000534941:exon6:c.C453T:p.Y151Y Score=387;Name=lod=50 NA 3q25.31 NA NA NA NA rs7653384 0.49 0.49 0.473 0.46885 0.6352 0.3155 0.4755 0.5144 0.3896 0.61 0.35 0.5 0.48 0.584 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.339257 NA NA 0.627282 0.530624 NA 0.464 NA 4.8201846 1178 17 39340843 39340843 G A intronic KRTAP4-1 NA NA NA exonic ENSG00000198443 NA synonymous SNV ENSG00000198443:ENST00000398472:exon1:c.C264T:p.C88C Score=289;Name=lod=20 NA 17q21.2 NA NA NA NA rs2320229 0.67 0.67 0.559 0.923323 0.9066 0.8978 0.9251 0.9191 0.9714 0.66 0.73 0.72 0.6 0.1067 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 0.121713 NA NA NA NA NA 0.029 NA 4.8200333 1178 19 14578674 14578674 C T intronic PKN1 NA NA NA intronic ENSG00000123143 NA NA NA NA NA 19p13.12 NA Name=SMC3_(ab9263),CTCF 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 1178 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$SRF_Q6 NA NA NA rs14137 0.48 0.48 0.439 0.414337 0.6372 0.3492 0.6124 0.2867 0.2843 0.65 0.31 0.6 0.32 0.5547 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.353977 NA NA 0.655116 0.317522 NA 0.536 NA 4.8196506 1178 19 9063935 9063935 G A exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.C23511T:p.S7837S exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C23511T:p.S7837S NA NA 19p13.2 NA NA NA NA rs2252675 0.22 0.22 0.202 0.210264 0.3101 0.249 0.2003 0.0628 0.274 0.31 0.21 0.23 0.1 0.2525 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.436972 NA NA 0.284727 0.101951 ID=COSM148486,COSM148485,COSM148487;OCCURENCE=1(stomach) 0.188 NA 4.8193396 1178 13 45010616 45010616 G A intronic TSC22D1 NA NA NA intronic ENSG00000102804 NA NA NA NA NA 13q14.11 Score=730;Name=V$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 1178 9 136379890 136379890 A G exonic TMEM8C NA synonymous SNV TMEM8C:NM_001080483:exon5:c.T534C:p.Y178Y exonic ENSG00000187616 NA synonymous SNV ENSG00000187616:ENST00000339996:exon5:c.T534C:p.Y178Y Score=617;Name=lod=428 NA 9q34.2 NA NA NA NA rs17758315 0.66 0.66 0.63 0.639177 0.6103 0.6865 0.7795 0.6339 0.5276 0.59 0.69 0.76 0.66 0.6086 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 0.15654 NA NA 0.62907 0.646618 NA 0.732 NA 4.8186966 1178 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 1178 1 156639636 156639636 G A exonic NES NA synonymous SNV NES:NM_006617:exon4:c.C4344T:p.A1448A exonic ENSG00000132688 NA synonymous SNV ENSG00000132688:ENST00000368223:exon4:c.C4344T:p.A1448A NA NA 1q23.1 NA NA NA NA rs11549292 0.23 0.23 0.19 0.224042 0.3032 0.2946 0.2882 0.0204 0.2996 0.29 0.28 0.28 0.03 0.2603 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365553 NA NA 0.28495 0.068151 ID=COSM1127348;OCCURENCE=1(prostate) 0.138 NA 4.8182166 1178 19 9060656 9060656 C T exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.G26790A:p.E8930E exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G26790A:p.E8930E NA NA 19p13.2 NA NA NA NA rs2216663 0.22 0.22 0.207 0.209665 0.3101 0.249 0.2003 0.0628 0.271 0.31 0.21 0.23 0.1 0.2521 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483295 NA NA 0.286545 0.10376 ID=COSM148479,COSM148480,COSM148481;OCCURENCE=1(stomach) 0.188 NA 4.8179216 1178 19 9049396 9049396 C G exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon5:c.G32235C:p.G10745G exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon5:c.G32235C:p.G10745G NA NA 19p13.2 NA NA NA NA rs10425044 0.19 0.19 0.179 0.1875 0.2823 0.0258 0.2637 0.1566 0.2444 0.29 0.02 0.26 0.18 0.2629 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.44747 NA NA 0.303762 0.163694 NA 0.254 NA 4.8177046 1178 11 124955032 124955032 T C exonic SLC37A2 NA synonymous SNV SLC37A2:NM_001145290:exon14:c.T1245C:p.D415D,SLC37A2:NM_198277:exon14:c.T1245C:p.D415D exonic ENSG00000134955 NA synonymous SNV ENSG00000134955:ENST00000308074:exon14:c.T1245C:p.D415D,ENSG00000134955:ENST00000403796:exon14:c.T1245C:p.D415D,ENSG00000134955:ENST00000407458:exon14:c.T1245C:p.D415D Score=444;Name=lod=85 NA 11q24.2 NA NA NA NA rs948268 0.64 0.64 0.667 0.665136 0.6213 0.4643 0.513 0.9478 0.6431 0.62 0.47 0.54 0.93 0.6113 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 0.316776 NA NA 0.616422 0.889368 NA 0.674 NA 4.8176446 1178 3 133465283 133465283 A G UTR5 TF NM_001063:c.-2A>G NA NA ncRNA_UTR5 ENSG00000091513 NA NA NA NA NA 3q22.1 NA Name=HNF4A_(H-171),TBP,TCF4,Sin3Ak-20,HNF4A,HEY1,FOXA1_(SC-101058),Pol2 Name=7 NA rs1130459 0.62 0.62 0.585 0.666134 0.5249 0.7401 0.7032 0.6452 0.7372 0.51 0.75 0.65 0.63 0.6229 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 0.756379 NA NA 0.534737 0.654075 NA 0.442 NA 4.817463 1178 9 126133497 126133497 C T exonic CRB2 NA synonymous SNV CRB2:NM_173689:exon8:c.C2076T:p.S692S exonic ENSG00000148204 NA synonymous SNV ENSG00000148204:ENST00000373629:exon3:c.C1080T:p.S360S,ENSG00000148204:ENST00000460253:exon3:c.C1080T:p.S360S,ENSG00000148204:ENST00000359999:exon8:c.C2076T:p.S692S,ENSG00000148204:ENST00000373631:exon8:c.C2076T:p.S692S NA NA 9q33.3 NA NA NA NA rs13290763 0.21 0.21 0.202 0.195887 0.2734 0.254 0.1729 0.053 0.2658 0.27 0.27 0.18 0.06 0.2626 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.370284 NA NA 0.313488 0.084657 NA 0.268 NA 4.8171786 1178 19 1057863 1057863 A T intronic ABCA7 NA NA NA intronic ENSG00000064687 NA NA NA NA NA 19p13.3 NA Name=SETDB1 NA NA rs10414798 0.1 0.1 0.107 0.133586 0.0586 0.0337 0.0591 0.2882 0.1575 0.07 0.03 0.06 0.28 0.078 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141947 NA NA 0.046395 0.225374 NA 0.116 NA 4.817005 1178 17 7129840 7129840 T C exonic DVL2 NA synonymous SNV DVL2:NM_004422:exon14:c.A1662G:p.Q554Q exonic ENSG00000004975 NA synonymous SNV ENSG00000004975:ENST00000005340:exon14:c.A1662G:p.Q554Q,ENSG00000004975:ENST00000575458:exon14:c.A1644G:p.Q548Q Score=474;Name=lod=113 NA 17p13.1 NA NA NA NA rs35594616 0.52 0.52 0.495 0.519569 0.6233 0.4732 0.4957 0.416 0.6176 0.6 0.46 0.56 0.43 0.6011 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.694677 NA NA 0.625581 0.441217 NA 0.572 NA 4.8166856 1178 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 1178 14 78174473 78174473 A C exonic SLIRP NA synonymous SNV SLIRP:NM_001267863:exon1:c.A19C:p.R7R,SLIRP:NM_001267864:exon1:c.A19C:p.R7R,SLIRP:NM_031210:exon1:c.A19C:p.R7R exonic ENSG00000119705 NA synonymous SNV ENSG00000119705:ENST00000238688:exon1:c.A19C:p.R7R,ENSG00000119705:ENST00000557342:exon1:c.A19C:p.R7R,ENSG00000119705:ENST00000557431:exon1:c.A19C:p.R7R,ENSG00000119705:ENST00000557623:exon1:c.A19C:p.R7R NA NA 14q24.3 NA Name=Pol2(phosphoS2),Pol2,GATA-2,USF1_(SC-8983),TAF7_(SQ-8),POU2F2,NFKB,TAF1,GABP,Pol2-4H8,ELF1_(SC-631),HEY1,YY1_(C-20),Max,Oct-2,c-Myc,RXRA,Sin3Ak-20,GATA3_(SC-268),Mxi1_(bHLH),PAX5-C20,TR4,TBP,Pol2(b),ELK4,HNF4A_(H-171),YY1,GTF2F1_(RAP-74) Name=147 NA rs11159286 0.89 0.89 0.905 0.870008 0.9642 0.8363 0.938 0.826 0.819 0.95 0.84 0.93 0.82 0.9226 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 0.972509 NA NA 0.963721 0.846119 NA 0.862 NA 4.8161456 1178 1 234584231 234584231 C T exonic TARBP1 NA synonymous SNV TARBP1:NM_005646:exon11:c.G1956A:p.Q652Q exonic ENSG00000059588 NA synonymous SNV ENSG00000059588:ENST00000040877:exon11:c.G1956A:p.Q652Q NA NA 1q42.2 NA NA NA NA rs2102596 0.3 0.3 0.271 0.287141 0.2893 0.3036 0.3732 0.2564 0.2485 0.28 0.3 0.36 0.27 0.2921 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204201 NA NA 0.269186 0.284839 NA 0.326 NA 4.8160806 1178 20 4162700 4162700 G A intronic SMOX NA NA NA intronic ENSG00000088826 NA NA NA NA NA 20p13 NA Name=Pol2 NA NA rs45610331 0.08 0.08 0.087 0.0890575 0.0606 0.1349 0.0836 0.0635 0.1094 0.06 0.14 0.1 0.04 0.0701 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696183 NA NA 0.053372 0.060372 NA 0.029 NA 4.815928 1178 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 1178 3 111981849 111981849 C T exonic SLC9C1 NA synonymous SNV SLC9C1:NM_183061:exon10:c.G1119A:p.K373K exonic ENSG00000172139 NA synonymous SNV ENSG00000172139:ENST00000487372:exon9:c.G975A:p.K325K,ENSG00000172139:ENST00000305815:exon10:c.G1119A:p.K373K Score=498;Name=lod=141 NA 3q13.2 NA NA NA NA rs9860819 0.64 0.64 0.621 0.642971 0.5964 0.7738 0.7118 0.4849 0.7209 0.61 0.8 0.67 0.5 0.6359 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 -0.601436 NA NA 0.61907 0.502724 NA 0.623 NA 4.8152966 1178 17 77071002 77071002 C G upstream ENGASE NA NA NA upstream ENSG00000167280 NA NA NA NA NA 17q25.3 NA Name=c-Myc,SP1,Nrf1,TCF4,YY1_(C-20),Sin3Ak-20,YY1,NF-YB,Egr-1,TBP,CCNT2,USF1_(SC-8983),Pol2,Pol2(phosphoS2),E2F6,E2F6_(H-50),TAF7_(SQ-8),Pol2-4H8,TAF1,RFX5_(N-494),HEY1 Name=148 NA rs8076010 0.37 0.37 0.293 0.392772 0.2406 0.5724 0.4251 0.3381 0.4151 0.25 0.57 0.38 0.31 0.411 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.564837 1.564837 NA 0.200063 0.247791 NA NA NA 4.8150036 1179 19 9075584 9075584 T A exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.A11862T:p.T3954T exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A11862T:p.T3954T NA NA 19p13.2 NA NA NA NA rs2547069 0.22 0.22 0.2 0.210463 0.3101 0.249 0.2046 0.0628 0.272 0.31 0.21 0.25 0.1 0.2534 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057029 NA NA 0.288184 0.10164 ID=COSM148491,COSM148492;OCCURENCE=1(stomach) 0.188 NA 4.8149826 1179 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 1179 19 9075635 9075635 G A exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.C11811T:p.S3937S exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C11811T:p.S3937S NA NA 19p13.2 NA NA NA NA rs2547070 0.22 0.22 0.207 0.210463 0.3101 0.249 0.2046 0.0628 0.272 0.31 0.21 0.24 0.1 0.2532 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038083 NA NA 0.288531 0.103122 NA 0.188 NA 4.8148356 1179 20 44574533 44574533 C T intronic PCIF1 NA NA NA intronic ENSG00000100982 NA NA NA NA NA 20q13.12 NA Name=ZNF263,Max,c-Myc,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 1179 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 1179 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$HOX13_01 NA NA NA rs7960207 0.83 0.83 0.81 0.817492 0.9761 0.7391 0.9366 0.677 0.8405 0.97 0.7 0.94 0.7 0.9097 0.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.283817 NA NA 0.966279 0.707671 NA 0.877 NA 4.8145876 1179 12 284058 284058 T C exonic IQSEC3 NA synonymous SNV IQSEC3:NM_001170738:exon14:c.T3408C:p.G1136G exonic ENSG00000120645 NA synonymous SNV ENSG00000120645:ENST00000326261:exon14:c.T3408C:p.G1136G,ENSG00000120645:ENST00000538872:exon14:c.T3408C:p.G1136G NA NA 12p13.33 Score=884;Name=V$ZIC2_01 Name=ERalpha_a NA NA rs216230 0.93 0.93 0.907 0.923722 0.9543 0.8502 0.9481 0.9455 0.9213 0.97 0.84 0.95 0.95 0.9435 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 -0.92347 NA NA 0.954584 0.955959 NA 0.616 NA 4.8142826 1179 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 1179 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 1179 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=ZNF263,GTF2F1_(RAP-74),Pol2(b),TBP,CCNT2,Sin3Ak-20,E2F4,STAT3,Oct-2,HEY1,KAP1,ELF1_(SC-631),STAT1,HMGN3,TAF1,NFKB,Pol2-4H8,GABP,TCF12,E2F6,GTF2B,Pol2,Pol2(phosphoS2),USF-1,HA-E2F1,CHD2_(N-1250) 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 1179 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 1179 1 22310725 22310725 G C exonic CELA3B NA synonymous SNV CELA3B:NM_007352:exon6:c.G543C:p.P181P exonic ENSG00000219073 NA synonymous SNV ENSG00000219073:ENST00000400277:exon3:c.G252C:p.P84P,ENSG00000219073:ENST00000337107:exon6:c.G543C:p.P181P NA NA 1p36.12 Score=809;Name=V$COMP1_01 NA NA NA rs3820287 0.83 0.83 0.821 NA NA NA NA NA NA 0.94 0.71 0.94 0.72 0.9105 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 -2.652255 NA NA 0.942791 0.755788 NA 0.833 NA 4.8133756 1179 12 8757481 8757481 G A exonic AICDA NA synonymous SNV AICDA:NM_020661:exon4:c.C465T:p.H155H exonic ENSG00000111732 NA synonymous SNV ENSG00000111732:ENST00000229335:exon4:c.C465T:p.H155H,ENSG00000111732:ENST00000537228:exon4:c.C435T:p.H145H NA NA 12p13.31 NA NA NA NA rs2028373 0.52 0.52 0.474 0.484225 0.6203 0.4812 0.6484 0.2776 0.5102 0.63 0.47 0.65 0.31 0.5904 0.65 . . . . . . . . 0.508 P . . . . -0.966 T 0.000 T . -1.129 0.119 -0.239 -0.198 -0.168 0.479 -1.128682 NA NA 0.643138 0.336313 NA 0.435 NA 4.8128286 1179 17 4391153 4391153 A G exonic SPNS3 NA synonymous SNV SPNS3:NM_182538:exon12:c.A1503G:p.L501L exonic ENSG00000182557 NA synonymous SNV ENSG00000182557:ENST00000333476:exon11:c.A1122G:p.L374L,ENSG00000182557:ENST00000355530:exon12:c.A1503G:p.L501L NA NA 17p13.2 NA NA NA NA rs333122 0.18 0.18 0.17 0.173522 0.3171 0.0446 0.1729 0.1256 0.2239 0.32 0.03 0.21 0.11 0.2418 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.074944 NA NA 0.295 0.142079 ID=COSM148157;OCCURENCE=1(stomach) 0.203 NA 4.8127666 1179 8 17478525 17478525 G T intronic PDGFRL NA NA NA intronic ENSG00000104213 NA NA NA NA NA 8p22 NA NA Name=2 NA rs80343296 0.09 0.09 0.075 0.0910543 0.0497 0.1637 0.1902 0.0174 0.0879 0.05 0.16 0.16 0.02 0.0789 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.391197 1.391197 NA 0.058837 0.021108 NA 0.036 NA 4.812563 1179 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 1179 9 114090279 114090279 A G exonic OR2K2 NA synonymous SNV OR2K2:NM_205859:exon1:c.T435C:p.A145A exonic ENSG00000171133 NA synonymous SNV ENSG00000171133:ENST00000302681:exon1:c.T435C:p.A145A,ENSG00000171133:ENST00000374428:exon1:c.T522C:p.A174A NA NA 9q31.3 Score=876;Name=V$TAL1ALPHAE47_01 NA NA NA rs314452 0.52 0.52 0.5 0.48742 0.6302 0.498 0.5764 0.3162 0.498 0.63 0.49 0.6 0.33 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 -0.872261 NA NA 0.638023 0.399909 NA 0.413 NA 4.8122436 1179 12 6587668 6587668 C G intergenic VAMP1,MRPL51 dist=7825;dist=13648 NA NA ncRNA_exonic ENSG00000256913 NA NA NA Score=479;Name=lod=118 NA 12p13.31 NA NA NA NA rs7301945 0.28 0.28 0.253 0.278954 0.1879 0.4544 0.2565 0.2799 0.2065 0.19 0.46 0.25 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 0.78049 NA NA NA NA NA 0.283 NA 4.8121 1179 9 136599146 136599146 C T exonic SARDH NA synonymous SNV SARDH:NM_001134707:exon2:c.G150A:p.Q50Q,SARDH:NM_007101:exon2:c.G150A:p.Q50Q exonic ENSG00000123453 NA synonymous SNV ENSG00000123453:ENST00000298628:exon2:c.G150A:p.Q50Q,ENSG00000123453:ENST00000371872:exon2:c.G150A:p.Q50Q,ENSG00000123453:ENST00000427237:exon2:c.G150A:p.Q50Q,ENSG00000123453:ENST00000439388:exon2:c.G150A:p.Q50Q NA NA 9q34.2 NA NA NA NA rs573904 0.24 0.24 0.223 0.219649 0.2952 0.3056 0.2406 0.084 0.2219 0.3 0.3 0.23 0.07 0.2699 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.418684 NA NA 0.290552 0.132727 NA 0.203 NA 4.8110146 1179 1 157550066 157550066 T C intronic FCRL4 NA NA NA intronic ENSG00000163518 NA NA NA NA NA 1q23.1 NA Name=GATA3_(SC-268),Rad21,JunD,SMC3_(ab9263),CTCF,BCLAF1_(M33-P5B11),RFX5_(N-494) Name=137 NA rs10489673 0.38 0.38 0.327 0.382588 0.3817 0.619 0.5159 0.0318 0.5194 0.38 0.64 0.46 0.03 0.4194 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.233102 NA NA 0.388023 0.08443 NA 0.319 NA 4.810877 1179 17 4391132 4391132 C T exonic SPNS3 NA synonymous SNV SPNS3:NM_182538:exon12:c.C1482T:p.N494N exonic ENSG00000182557 NA synonymous SNV ENSG00000182557:ENST00000333476:exon11:c.C1101T:p.N367N,ENSG00000182557:ENST00000355530:exon12:c.C1482T:p.N494N NA NA 17p13.2 NA NA NA NA rs2291743 0.17 0.17 0.152 0.154752 0.3171 0.0437 0.1715 0.0567 0.2229 0.32 0.03 0.21 0.06 0.2388 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.490776 NA NA 0.300233 0.091239 ID=COSM148156;OCCURENCE=1(stomach) 0.203 NA 4.8105336 1179 3 53925775 53925775 C T intronic SELK NA NA NA intronic ENSG00000113811 NA NA NA NA NA 3p21.1 NA Name=Pol2,POU2F2,Ini1,Pol2-4H8,TAF1,GATA-1,HEY1,Oct-2,Sin3Ak-20,PU.1,Pol2(b),TBP,CCNT2 NA NA rs2276847 0.11 0.11 0.103 0.142772 0.0487 0.247 0.1081 0.1051 0.2076 0.05 0.22 0.07 0.13 0.0898 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.746137 NA NA 0.051199 0.110555 NA 0.101 NA 4.810301 1179 7 106508987 106508987 T C exonic PIK3CG NA synonymous SNV PIK3CG:NM_002649:exon2:c.T981C:p.D327D exonic ENSG00000105851 NA synonymous SNV ENSG00000105851:ENST00000359195:exon2:c.T981C:p.D327D,ENSG00000105851:ENST00000440650:exon2:c.T981C:p.D327D,ENSG00000105851:ENST00000496166:exon2:c.T981C:p.D327D Score=479;Name=lod=118 NA 7q22.3 NA Name=SETDB1 NA NA rs849390 0.94 0.94 0.935 0.940895 0.9563 0.997 0.9597 0.8616 0.9611 0.96 1 0.95 0.86 0.9502 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.036528 NA NA 0.95 0.857694 NA 0.913 NA 4.8101666 1179 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 1179 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 1179 6 155485554 155485554 G A exonic TIAM2 NA synonymous SNV TIAM2:NM_012454:exon7:c.G2034A:p.Q678Q exonic ENSG00000146426 NA synonymous SNV ENSG00000146426:ENST00000360366:exon5:c.G2034A:p.Q678Q,ENSG00000146426:ENST00000529824:exon5:c.G2034A:p.Q678Q,ENSG00000146426:ENST00000318981:exon7:c.G2034A:p.Q678Q,ENSG00000146426:ENST00000367174:exon7:c.G90A:p.Q30Q,ENSG00000146426:ENST00000456144:exon7:c.G2034A:p.Q678Q,ENSG00000146426:ENST00000528535:exon8:c.G2034A:p.Q678Q,ENSG00000146426:ENST00000461783:exon10:c.G2034A:p.Q678Q Score=535;Name=lod=200 NA 6q25.2 NA NA NA NA rs1032141 0.57 0.57 0.545 0.571086 0.6093 0.5605 0.7464 0.3608 0.7025 0.61 0.58 0.74 0.39 0.627 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.812903 NA NA 0.622209 0.437131 NA 0.63 NA 4.8081576 1179 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 1179 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 1179 3 125726048 125726048 G C exonic SLC41A3 NA synonymous SNV SLC41A3:NM_001008486:exon10:c.C1167G:p.L389L,SLC41A3:NM_001008487:exon10:c.C1197G:p.L399L,SLC41A3:NM_001164475:exon10:c.C924G:p.L308L,SLC41A3:NM_001008485:exon11:c.C1275G:p.L425L,SLC41A3:NM_017836:exon11:c.C1275G:p.L425L exonic ENSG00000114544 NA synonymous SNV ENSG00000114544:ENST00000346785:exon10:c.C1167G:p.L389L,ENSG00000114544:ENST00000383598:exon10:c.C1197G:p.L399L,ENSG00000114544:ENST00000508835:exon10:c.C924G:p.L308L,ENSG00000114544:ENST00000315891:exon11:c.C1275G:p.L425L,ENSG00000114544:ENST00000360370:exon11:c.C1275G:p.L425L Score=577;Name=lod=294 NA 3q21.2 NA NA NA NA rs2279819 0.65 0.65 0.688 0.665735 0.6203 0.503 0.5461 0.9395 0.5951 0.61 0.5 0.57 0.93 0.6096 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 0.931534 NA NA 0.628721 0.891285 NA 0.616 NA 4.8080456 1179 7 75368110 75368110 C T intronic HIP1 NA NA NA intronic ENSG00000127946 NA NA NA NA NA 7q11.23 NA Name=Pol2,HEY1,Sin3Ak-20,AP-2gamma NA NA rs111778729 0.03 0.03 0.039 0.0259585 0.0755 NA 0.0346 0.0197 0.0041 0.07 NA 0.04 0.01 0.0653 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 3.798516 3.798516 NA 0.051406 0.020019 NA 0.014 NA 4.807794 1179 3 184633247 184633247 A C exonic VPS8 NA synonymous SNV VPS8:NM_001009921:exon27:c.A2367C:p.L789L,VPS8:NM_015303:exon27:c.A2361C:p.L787L exonic ENSG00000156931 NA synonymous SNV ENSG00000156931:ENST00000446204:exon25:c.A2091C:p.L697L,ENSG00000156931:ENST00000287546:exon27:c.A2367C:p.L789L,ENSG00000156931:ENST00000436792:exon27:c.A2361C:p.L787L,ENSG00000156931:ENST00000437079:exon28:c.A2367C:p.L789L Score=597;Name=lod=356 NA 3q27.2 NA NA NA NA rs4686879 0.49 0.49 0.471 0.455072 0.6282 0.3433 0.5432 0.3608 0.4571 0.61 0.37 0.52 0.41 0.5748 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 0.591543 NA NA 0.656334 0.395445 NA 0.42 NA 4.8073326 1179 2 190430177 190430177 A G exonic SLC40A1 NA synonymous SNV SLC40A1:NM_014585:exon6:c.T663C:p.V221V exonic ENSG00000138449 NA synonymous SNV ENSG00000138449:ENST00000261024:exon6:c.T663C:p.V221V Score=609;Name=lod=398 NA 2q32.2 NA NA NA NA rs2304704 0.58 0.58 0.538 0.55012 0.6054 0.8075 0.6772 0.1558 0.6708 0.61 0.81 0.68 0.19 0.6142 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 1.60056 1.60056 NA 0.640116 0.231049 NA 0.543 NA 4.8069506 1179 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 1179 11 985547 985547 C T exonic AP2A2 NA synonymous SNV AP2A2:NM_001242837:exon8:c.C930T:p.L310L,AP2A2:NM_012305:exon8:c.C927T:p.L309L exonic ENSG00000183020 NA synonymous SNV ENSG00000183020:ENST00000332231:exon8:c.C930T:p.L310L,ENSG00000183020:ENST00000448903:exon8:c.C927T:p.L309L,ENSG00000183020:ENST00000528815:exon8:c.C930T:p.L310L,ENSG00000183020:ENST00000534328:exon8:c.C927T:p.L309L Score=579;Name=lod=301 NA 11p15.5 NA NA NA NA rs10794358 0.5 0.5 0.479 0.461062 0.66 0.2847 0.7147 0.3631 0.3906 0.65 0.31 0.69 0.36 0.5636 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 1.122597 NA NA 0.63692 0.384723 NA 0.601 NA 4.8061466 1179 6 105239352 105239352 C T intronic HACE1 NA NA NA intronic ENSG00000085382 NA NA NA Score=730;Name=lod=1238 NA 6q16.3 NA NA NA NA rs17065321 0.05 0.05 0.042 0.0519169 0.0716 0.0278 0.036 0.0378 0.0869 0.08 0.03 0.05 0.03 0.0595 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 3.658994 3.658994 NA 0.062791 0.045393 NA 0.065 NA 4.806109 1179 6 170893364 170893364 C T intronic PDCD2 NA NA NA intronic ENSG00000071994 NA NA NA NA NA 6q27 NA Name=ZBTB7A_(SC-34508),Max,c-Myc,Sin3Ak-20,TAF1,ELF1_(SC-631),ETS1,Pol2 Name=28 NA rs4140616 0.5 0.5 0.468 0.470647 0.3976 0.7708 0.4092 0.354 0.4376 0.4 0.78 0.44 0.37 0.4462 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 0.834672 NA NA 0.350109 0.319294 NA 0.377 NA 4.806091 1179 9 95279985 95279985 C A exonic ECM2 NA synonymous SNV ECM2:NM_001197295:exon3:c.G465T:p.P155P,ECM2:NM_001197296:exon3:c.G465T:p.P155P,ECM2:NM_001393:exon3:c.G465T:p.P155P exonic ENSG00000106823 NA synonymous SNV ENSG00000106823:ENST00000344604:exon3:c.G465T:p.P155P,ENSG00000106823:ENST00000375540:exon3:c.G465T:p.P155P,ENSG00000106823:ENST00000444490:exon3:c.G465T:p.P155P,ENSG00000106823:ENST00000395534:exon4:c.G465T:p.P155P NA NA 9q22.31 NA NA NA NA rs968040 0.33 0.33 0.35 0.334665 0.2932 0.0893 0.2421 0.7557 0.1268 0.27 0.1 0.26 0.74 0.2779 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.126897 NA NA 0.290233 0.662279 NA 0.37 NA 4.8053336 1179 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 1179 11 124745427 124745427 G T intronic ROBO3 NA NA NA intronic ENSG00000154134 NA NA NA NA NA 11q24.2 Score=829;Name=V$CDPCR3_01 NA NA NA rs74664498 0.05 0.05 0.039 0.0611022 0.0696 0.0208 0.0346 0.0318 0.1524 0.07 0.03 0.04 0.04 0.0671 0.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.844769 NA NA 0.058231 0.037221 NA 0.036 NA 4.805069 1180 5 80562120 80562120 G A ncRNA_UTR3 CKMT2 NA NA NA ncRNA_UTR3 ENSG00000131730 NA NA NA Score=428;Name=lod=73 NA 5q14.1 NA NA NA NA rs545 0.27 0.27 0.256 0.279553 0.2793 0.0823 0.4193 0.3533 0.2843 0.29 0.06 0.39 0.37 0.2994 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.081815 4.081815 NA 0.283023 0.335452 ID=COSN167515;OCCURENCE=1(large_intestine) 0.341 NA 4.8049436 1180 X 23685964 23685964 T C intronic PRDX4 NA NA NA intronic ENSG00000123131 NA NA NA NA NA Xp22.11 NA Name=AP-2alpha,Egr-1,AP-2gamma,Mxi1_(bHLH),Sin3Ak-20,c-Myc,Max,NFKB,Pol2 Name=19 NA rs496067 0.67 0.67 0.66614 NA NA NA NA NA NA 0.59 0.79 0.66 0.67 0.6194 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669719 NA NA 0.576019 0.638403 NA 0.493 NA 4.804581 1180 2 220330804 220330804 T C UTR3 SPEG NM_001173476:c.*18T>C NA NA UTR3 ENSG00000072195 ENST00000396698:c.*18T>C,ENST00000396695:c.*18T>C,ENST00000396688:c.*18T>C,ENST00000396686:c.*18T>C,ENST00000396689:c.*18T>C NA NA Score=680;Name=lod=770 NA 2q35 Score=945;Name=V$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 1180 6 128403745 128403745 A G exonic PTPRK NA synonymous SNV PTPRK:NM_001135648:exon10:c.T1614C:p.V538V,PTPRK:NM_002844:exon10:c.T1614C:p.V538V exonic ENSG00000152894 NA synonymous SNV ENSG00000152894:ENST00000368207:exon10:c.T1614C:p.V538V,ENSG00000152894:ENST00000368210:exon10:c.T1614C:p.V538V,ENSG00000152894:ENST00000368213:exon10:c.T1614C:p.V538V,ENSG00000152894:ENST00000368215:exon10:c.T1614C:p.V538V,ENSG00000152894:ENST00000368226:exon10:c.T1614C:p.V538V,ENSG00000152894:ENST00000368227:exon10:c.T1614C:p.V538V,ENSG00000152894:ENST00000532331:exon10:c.T1614C:p.V538V Score=585;Name=lod=317 NA 6q22.33 NA NA NA NA rs17828130 0.53 0.53 0.499 0.481829 0.6352 0.5942 0.6455 0.1248 0.5746 0.64 0.62 0.65 0.15 0.5892 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.192143 NA NA 0.637907 0.190876 NA 0.377 NA 4.8043596 1180 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 1180 19 9077060 9077060 C T exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.G10386A:p.V3462V exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G10386A:p.V3462V NA NA 19p13.2 NA NA NA NA rs2591596 0.25 0.25 0.25 0.248403 0.3121 0.249 0.2118 0.2012 0.272 0.31 0.21 0.24 0.22 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 -0.071055 NA NA 0.287793 0.211011 NA 0.254 NA 4.8040736 1180 19 4945917 4945917 C T exonic UHRF1 NA unknown UNKNOWN ncRNA_exonic ENSG00000034063 NA NA NA Score=457;Name=lod=96 NA 19p13.3 NA NA NA NA rs2250981 0.48 0.48 0.299 0.545727 0.3767 0.6687 0.4179 0.6498 0.5429 0.36 0.59 0.4 0.58 0.3955 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.706143 NA NA 0.257205 0.427259 ID=COSM439937;OCCURENCE=1(breast) 0.464 NA 4.8039283 1180 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 1180 15 86125031 86125031 G A exonic AKAP13 NA synonymous SNV AKAP13:NM_006738:exon7:c.G3732A:p.G1244G,AKAP13:NM_007200:exon7:c.G3732A:p.G1244G exonic ENSG00000170776 NA synonymous SNV ENSG00000170776:ENST00000361243:exon7:c.G3732A:p.G1244G,ENSG00000170776:ENST00000394518:exon7:c.G3732A:p.G1244G,ENSG00000170776:ENST00000559362:exon7:c.G3732A:p.G1244G NA NA 15q25.3 NA Name=ZNF263,Pol2 NA NA rs7178065 0.58 0.58 0.6 0.576677 0.6123 0.5774 0.6182 0.5446 0.5532 0.61 0.58 0.61 0.52 0.6067 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.177792 NA NA 0.64422 0.588329 NA 0.572 NA 4.8034466 1180 19 9076163 9076163 C T exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.G11283A:p.Q3761Q exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G11283A:p.Q3761Q NA NA 19p13.2 NA NA NA NA rs2547073 0.25 0.25 0.245 0.248203 0.3121 0.249 0.2118 0.2005 0.272 0.31 0.21 0.24 0.22 0.2629 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.361303 NA NA 0.288406 0.207579 NA 0.254 NA 4.8032606 1180 11 102663503 102663503 T C ncRNA_intronic WTAPP1 NA NA NA ncRNA_intronic ENSG00000255282 NA NA NA NA NA 11q22.2 NA NA Name=14 NA rs7125062 0.4 0.4 0.371 0.392772 0.2575 0.6716 0.4294 0.3026 0.3405 0.25 0.67 0.43 0.27 0.3353 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 0.511801 NA NA 0.270644 0.319709 NA 0.391 NA 4.8032226 1180 19 9077264 9077264 T G exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.A10182C:p.V3394V exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A10182C:p.V3394V NA NA 19p13.2 NA NA NA NA rs1862461 0.25 0.25 0.24 0.249601 0.3121 0.251 0.2133 0.202 0.274 0.31 0.22 0.24 0.22 0.2629 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18425 NA NA 0.28871 0.214394 ID=COSM148495,COSM148496;OCCURENCE=1(stomach) 0.261 NA 4.8029566 1180 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 1180 11 5625847 5625847 A G exonic TRIM6,TRIM6-TRIM34 NA synonymous SNV TRIM6:NM_001003818:exon3:c.A591G:p.K197K,TRIM6-TRIM34:NM_001003819:exon3:c.A591G:p.K197K,TRIM6:NM_058166:exon3:c.A507G:p.K169K exonic ENSG00000121236,ENSG00000258588 NA synonymous SNV ENSG00000121236:ENST00000278302:exon3:c.A507G:p.K169K,ENSG00000258588:ENST00000354852:exon3:c.A591G:p.K197K,ENSG00000121236:ENST00000380097:exon3:c.A591G:p.K197K,ENSG00000121236:ENST00000380107:exon4:c.A429G:p.K143K NA NA 11p15.4 Score=750;Name=V$STAT5A_02 NA NA NA rs3751006 0.66 0.66 0.676 0.69988 0.5865 0.7212 0.6556 0.7171 0.8027 0.58 0.73 0.65 0.69 0.656 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 -1.376431 NA NA 0.62148 0.720582 NA 0.674 NA 4.8026866 1180 19 9076991 9076991 C T exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.G10455A:p.A3485A exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.G10455A:p.A3485A NA NA 19p13.2 NA NA NA NA rs2591595 0.25 0.25 0.249 0.248203 0.3121 0.249 0.2118 0.2005 0.272 0.31 0.21 0.24 0.22 0.2629 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.286132 NA NA 0.288986 0.209933 NA 0.254 NA 4.8026806 1180 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 1180 1 3301721 3301721 C T exonic PRDM16 NA synonymous SNV PRDM16:NM_022114:exon4:c.C444T:p.S148S,PRDM16:NM_199454:exon4:c.C444T:p.S148S exonic ENSG00000142611 NA synonymous SNV ENSG00000142611:ENST00000463591:exon2:c.C12T:p.S4S,ENSG00000142611:ENST00000270722:exon4:c.C444T:p.S148S,ENSG00000142611:ENST00000378391:exon4:c.C444T:p.S148S,ENSG00000142611:ENST00000378398:exon4:c.C444T:p.S148S,ENSG00000142611:ENST00000441472:exon4:c.C444T:p.S148S,ENSG00000142611:ENST00000442529:exon4:c.C444T:p.S148S,ENSG00000142611:ENST00000511072:exon4:c.C447T:p.S149S,ENSG00000142611:ENST00000514189:exon4:c.C447T:p.S149S NA NA 1p36.32 NA NA NA NA rs2282198 0.31 0.31 0.285 0.340455 0.2684 0.622 0.3285 0.0386 0.5409 0.28 0.58 0.32 0.03 0.3295 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.774642 NA NA 0.266846 0.081666 NA 0.21 NA 4.8019206 1180 19 45476422 45476422 T C exonic CLPTM1 NA synonymous SNV CLPTM1:NM_001294:exon3:c.T264C:p.A88A exonic ENSG00000104853 NA synonymous SNV ENSG00000104853:ENST00000337392:exon3:c.T264C:p.A88A,ENSG00000104853:ENST00000541297:exon3:c.T222C:p.A74A,ENSG00000104853:ENST00000591304:exon3:c.T264C:p.A88A Score=592;Name=lod=340 NA 19q13.32 Score=966;Name=V$NMYC_01 NA NA NA rs204481 0.91 0.91 0.913 0.902356 0.9672 0.9306 0.8703 0.8086 0.956 0.97 0.93 0.9 0.83 0.9426 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 0.944446 NA NA 0.955581 0.846346 NA 0.797 NA 4.8012856 1180 19 9056930 9056930 T G exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.A30516C:p.T10172T exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.A30516C:p.T10172T NA NA 19p13.2 NA NA NA NA rs918535 0.23 0.23 0.232 0.243211 0.2833 0.0258 0.2867 0.3525 0.2474 0.29 0.02 0.28 0.36 0.2781 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.822638 NA NA 0.303997 0.322646 NA 0.312 NA 4.8012696 1180 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$LMO2COM_02 NA NA NA rs10741130 0.52 0.52 0.509 0.510982 0.6103 0.4563 0.5231 0.5295 0.4315 0.6 0.41 0.55 0.52 0.5971 0.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.588614 NA NA 0.658023 0.561961 NA 0.514 NA 4.8012436 1180 1 116534852 116534852 C T exonic SLC22A15 NA synonymous SNV SLC22A15:NM_018420:exon2:c.C288T:p.S96S exonic ENSG00000163393 NA synonymous SNV ENSG00000163393:ENST00000369502:exon2:c.C288T:p.S96S,ENSG00000163393:ENST00000369503:exon2:c.C288T:p.S96S Score=483;Name=lod=122 NA 1p13.1 NA NA NA NA rs4046190 0.45 0.45 0.432 0.435304 0.6441 0.4196 0.4827 0.1362 0.6074 0.63 0.45 0.5 0.14 0.5994 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600138 NA NA 0.622874 0.201894 NA 0.543 NA 4.8002926 1180 10 120828969 120828969 A G exonic EIF3A NA synonymous SNV EIF3A:NM_003750:exon6:c.T939C:p.D313D exonic ENSG00000107581 NA synonymous SNV ENSG00000107581:ENST00000369144:exon6:c.T939C:p.D313D,ENSG00000107581:ENST00000541549:exon6:c.T837C:p.D279D Score=601;Name=lod=371 NA 10q26.11 Score=768;Name=V$EVI1_01 NA NA NA rs7908387 0.82 0.82 0.794 0.790535 0.9692 0.8829 0.9193 0.3949 0.955 0.98 0.86 0.91 0.45 0.9238 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 1.032207 NA NA 0.973488 0.514526 NA 0.783 NA 4.8001786 1180 11 26692733 26692733 T C exonic SLC5A12 NA synonymous SNV SLC5A12:NM_178498:exon15:c.A1773G:p.R591R exonic ENSG00000148942 NA synonymous SNV ENSG00000148942:ENST00000396005:exon15:c.A1773G:p.R591R NA NA 11p14.2 NA NA NA NA rs7114378 0.33 0.33 0.327 0.318091 0.3141 0.4732 0.2219 0.2844 0.2761 0.31 0.43 0.27 0.3 0.2814 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.242877 NA NA 0.271102 0.261423 NA 0.217 NA 4.8000646 1180 19 52659991 52659991 A G exonic ZNF836 NA synonymous SNV ZNF836:NM_001102657:exon5:c.T945C:p.Y315Y exonic ENSG00000196267 NA synonymous SNV ENSG00000196267:ENST00000322146:exon5:c.T945C:p.Y315Y,ENSG00000196267:ENST00000597252:exon5:c.T945C:p.Y315Y NA NA 19q13.41 NA NA NA NA rs1821278 0.45 0.45 0.433 0.496605 0.2505 0.5714 0.3746 0.652 0.5491 0.26 0.57 0.38 0.67 0.3565 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 -0.649552 NA NA 0.259828 0.592685 NA 0.362 NA 4.7998386 1180 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 1180 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 1180 17 64216870 64216870 T G intronic APOH NA NA NA intronic ENSG00000091583 NA NA NA Score=272;Name=lod=17 NA 17q24.2 NA NA NA NA rs79228460 0.08 0.08 0.081 0.0702875 0.0696 0.0516 0.0418 0.115 0.0501 0.07 0.06 0.04 0.13 0.0666 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.015537 NA NA 0.064884 0.089877 NA 0.065 NA 4.798916 1180 3 121526204 121526204 G A exonic IQCB1 NA synonymous SNV IQCB1:NM_001023570:exon7:c.C574T:p.L192L,IQCB1:NM_001023571:exon7:c.C574T:p.L192L exonic ENSG00000173226 NA synonymous SNV ENSG00000173226:ENST00000498104:exon5:c.C22T:p.L8L,ENSG00000173226:ENST00000460108:exon6:c.C22T:p.L8L,ENSG00000173226:ENST00000310864:exon7:c.C574T:p.L192L,ENSG00000173226:ENST00000349820:exon7:c.C574T:p.L192L,ENSG00000173226:ENST00000393650:exon7:c.C574T:p.L192L Score=405;Name=lod=59 NA 3q13.33 NA NA NA NA rs4543051 0.57 0.57 0.559 0.620008 0.6163 0.3244 0.7032 0.7587 0.682 0.61 0.29 0.67 0.76 0.6275 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 -0.371172 NA NA 0.624331 0.707444 NA 0.71 NA 4.7985356 1180 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 1180 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 1180 1 50661411 50661411 C T exonic ELAVL4 NA synonymous SNV ELAVL4:NM_001144774:exon5:c.C687T:p.P229P,ELAVL4:NM_001144775:exon5:c.C738T:p.P246P,ELAVL4:NM_001144776:exon5:c.C687T:p.P229P,ELAVL4:NM_001144777:exon5:c.C696T:p.P232P,ELAVL4:NM_021952:exon5:c.C687T:p.P229P exonic ENSG00000162374 NA synonymous SNV ENSG00000162374:ENST00000357083:exon5:c.C738T:p.P246P,ENSG00000162374:ENST00000371819:exon5:c.C702T:p.P234P,ENSG00000162374:ENST00000371821:exon5:c.C702T:p.P234P,ENSG00000162374:ENST00000371823:exon5:c.C687T:p.P229P,ENSG00000162374:ENST00000371824:exon5:c.C687T:p.P229P,ENSG00000162374:ENST00000371827:exon5:c.C687T:p.P229P,ENSG00000162374:ENST00000448907:exon5:c.C696T:p.P232P Score=749;Name=lod=1469 NA 1p33 Score=822;Name=V$CMYB_01 NA NA NA rs2480683 0.85 0.85 0.82 0.816494 0.9712 0.999 0.9366 0.3729 0.9836 0.97 1 0.95 0.41 0.9282 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.422144 1.422144 NA 0.969302 0.459601 NA 0.768 NA 4.7979646 1180 13 111145633 111145633 C T intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA Score=378;Name=lod=46 NA 13q34 NA NA NA NA rs2274544 0.12 0.12 0.113 0.128395 0.0606 0.1944 0.0692 0.0862 0.229 0.07 0.2 0.07 0.12 0.0916 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.395425 NA NA 0.050396 0.05903 NA 0.145 NA 4.797404 1180 5 145602934 145602934 C T intronic RBM27 NA NA NA intronic ENSG00000091009 NA NA NA NA NA 5q32 NA Name=CEBPB NA NA rs17104322 0.05 0.05 0.043 0.0453275 0.0696 NA 0.0317 0.0711 0.0419 0.08 NA 0.05 0.07 0.0597 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114389 NA NA 0.073324 0.07111 NA 0.072 NA 4.797376 1180 12 82783668 82783668 C T exonic METTL25 NA synonymous SNV METTL25:NM_032230:exon3:c.C498T:p.I166I exonic ENSG00000127720 NA synonymous SNV ENSG00000127720:ENST00000248306:exon3:c.C498T:p.I166I,ENSG00000127720:ENST00000548200:exon3:c.C498T:p.I166I NA NA 12q21.31 Score=803;Name=V$CART1_01 NA NA NA rs10778908 0.93 0.93 0.915 0.926118 0.9573 1 0.9568 0.7784 0.9959 0.96 1 0.96 0.78 0.9559 1 . . . . . . . . 0.000 P . . . . -1.010 T 0.000 T . 0.584 7.153 1.23 0.305 0.257 6.090 0.584091 NA NA 0.956238 0.822515 NA 0.862 NA 4.7972286 1180 9 97365642 97365642 G A UTR3 FBP1 NM_000507:c.*21C>T,NM_001127628:c.*21C>T NA NA UTR3 ENSG00000165140 ENST00000375326:c.*21C>T,ENST00000415431:c.*21C>T NA NA NA NA 9q22.32 NA Name=SMC3_(ab9263),c-Myc,Rad21,RXRA,eGFP-JunD,CTCF,TCF12 Name=141 NA rs9695 0.5 0.5 0.477 0.487021 0.496 0.3998 0.7003 0.472 0.4366 0.5 0.42 0.68 0.47 0.5244 0.68 NA NA 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 0.515814 0.485701 NA 0.536 NA 4.7971194 1180 15 86122916 86122916 T C exonic AKAP13 NA synonymous SNV AKAP13:NM_006738:exon7:c.T1617C:p.A539A,AKAP13:NM_007200:exon7:c.T1617C:p.A539A exonic ENSG00000170776 NA synonymous SNV ENSG00000170776:ENST00000361243:exon7:c.T1617C:p.A539A,ENSG00000170776:ENST00000394518:exon7:c.T1617C:p.A539A,ENSG00000170776:ENST00000559362:exon7:c.T1617C:p.A539A NA NA 15q25.3 NA Name=GR NA NA rs2061823 0.59 0.59 0.587 0.583267 0.6153 0.5794 0.6182 0.5507 0.5736 0.61 0.58 0.61 0.53 0.6105 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.977648 NA NA 0.643871 0.592416 NA 0.565 NA 4.7969956 1180 5 112176559 112176559 T G exonic APC NA synonymous SNV APC:NM_001127511:exon14:c.T5214G:p.S1738S,APC:NM_000038:exon16:c.T5268G:p.S1756S,APC:NM_001127510:exon17:c.T5268G:p.S1756S exonic ENSG00000134982 NA synonymous SNV ENSG00000134982:ENST00000257430:exon16:c.T5268G:p.S1756S,ENSG00000134982:ENST00000457016:exon16:c.T5268G:p.S1756S,ENSG00000134982:ENST00000508376:exon17:c.T5268G:p.S1756S NA NA 5q22.2 NA NA NA NA rs866006 0.66 0.66 0.632 0.666933 0.6004 0.8165 0.7161 0.5197 0.7454 0.61 0.81 0.71 0.54 0.6508 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 -2.298982 NA NA 0.618632 0.528156 NA 0.623 CLINSIG=non-pathogenic|other;CLNDBN=not_specified|Familial_colorectal_cancer;CLNREVSTAT=mult|single;CLNACC=RCV000035076.2|RCV000074236.1;CLNDSDB=.|MedGen:OMIM;CLNDSDBID=.|CN029768:114500 4.7968346 1180 1 64603231 64603231 G A intronic ROR1 NA NA NA ncRNA_intronic ENSG00000223949 NA NA NA NA NA 1p31.3 NA NA Name=15 NA rs3738151 0.12 0.12 0.117 0.111621 0.171 0.0427 0.1254 0.1089 0.1155 0.17 0.05 0.14 0.12 0.159 0.21 NA NA 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 0.206672 0.117935 NA 0.152 NA 4.7966613 1180 15 86123924 86123924 C T exonic AKAP13 NA synonymous SNV AKAP13:NM_006738:exon7:c.C2625T:p.P875P,AKAP13:NM_007200:exon7:c.C2625T:p.P875P exonic ENSG00000170776 NA synonymous SNV ENSG00000170776:ENST00000361243:exon7:c.C2625T:p.P875P,ENSG00000170776:ENST00000394518:exon7:c.C2625T:p.P875P,ENSG00000170776:ENST00000559362:exon7:c.C2625T:p.P875P NA NA 15q25.3 NA Name=Pol2 NA NA rs4075255 0.58 0.58 0.598 0.582268 0.6153 0.5784 0.6182 0.5477 0.5736 0.61 0.58 0.61 0.53 0.6106 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00835 NA NA 0.64422 0.591054 NA 0.572 NA 4.7965466 1180 19 40319227 40319227 C T intronic DYRK1B NA NA NA intronic ENSG00000105204 NA NA NA NA NA 19q13.2 NA Name=GR NA NA rs56077108 0.03 0.03 0.02 0.0215655 0.0706 0.001 0.0303 0.003 0.0112 0.07 0.0017 0.04 0.0041 0.0599 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 0.187793 NA NA 0.073372 0.01271 NA 0.022 NA 4.796128 1180 15 42178155 42178155 T C exonic SPTBN5 NA nonsynonymous SNV SPTBN5:NM_016642:exon7:c.A1298G:p.H433R exonic ENSG00000137877 NA nonsynonymous SNV ENSG00000137877:ENST00000320955:exon7:c.A1298G:p.H433R NA NA 15q15.1 NA NA NA NA rs1210795 0.89 0.89 0.869 0.872604 0.8459 0.9762 0.8862 0.8669 0.7914 0.85 0.98 0.89 0.84 0.8543 0.98 0.91 T . . . . 0.611 N 1.000 P . . 0.99 T -0.983 T 0.000 T 0.012 -2.846 0 1.62 -0.172 0.020 8.953 -2.845703 NA 0.84 0.837189 0.862825 NA 0.855 NA 4.7959444 1180 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 1180 1 160134205 160134205 C T exonic ATP1A4 NA synonymous SNV ATP1A4:NM_144699:exon7:c.C1038T:p.A346A exonic ENSG00000132681 NA synonymous SNV ENSG00000132681:ENST00000368081:exon7:c.C1038T:p.A346A,ENSG00000132681:ENST00000477338:exon7:c.C1038T:p.A346A Score=602;Name=lod=374 NA 1q23.2 NA NA NA NA rs11265338 0.57 0.57 0.545 0.528754 0.6421 0.5417 0.6758 0.357 0.5266 0.65 0.58 0.68 0.37 0.6055 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.880955 NA NA 0.623488 0.40808 NA 0.587 NA 4.7955786 1180 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 1180 13 95858996 95858996 T C exonic ABCC4 NA synonymous SNV ABCC4:NM_001105515:exon8:c.A951G:p.R317R,ABCC4:NM_005845:exon8:c.A951G:p.R317R exonic ENSG00000125257 NA synonymous SNV ENSG00000125257:ENST00000536256:exon7:c.A726G:p.R242R,ENSG00000125257:ENST00000376887:exon8:c.A951G:p.R317R,ENSG00000125257:ENST00000412704:exon8:c.A951G:p.R317R,ENSG00000125257:ENST00000431522:exon8:c.A951G:p.R317R Score=570;Name=lod=277 NA 13q32.1 NA NA NA NA rs2274406 0.53 0.53 0.509 0.518171 0.6193 0.5327 0.4957 0.3495 0.6431 0.61 0.55 0.54 0.37 0.6043 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.275451 1.275451 NA 0.648023 0.390831 ID=COSM147706;OCCURENCE=1(stomach) 0.551 NA 4.7950436 1181 5 102520400 102520400 A C exonic PPIP5K2 NA synonymous SNV PPIP5K2:NM_015216:exon25:c.A3124C:p.R1042R,PPIP5K2:NM_001276277:exon26:c.A3124C:p.R1042R exonic ENSG00000145725 NA synonymous SNV ENSG00000145725:ENST00000509597:exon7:c.A772C:p.R258R,ENSG00000145725:ENST00000414217:exon25:c.A3124C:p.R1042R,ENSG00000145725:ENST00000321521:exon26:c.A3124C:p.R1042R,ENSG00000145725:ENST00000358359:exon26:c.A3124C:p.R1042R NA NA 5q21.1 NA NA NA NA rs26821 0.35 0.35 0.375 0.307508 0.2813 0.4454 0.2378 0.3873 0.1339 0.3 0.44 0.27 0.4 0.2847 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.761131 NA NA 0.305698 0.373581 NA 0.362 NA 4.7949686 1181 5 145509728 145509728 A C intronic LARS NA NA NA intronic ENSG00000133706 NA NA NA Score=251;Name=lod=14 NA 5q32 NA NA NA NA rs17104268 0.04 0.04 0.046 0.0425319 0.0726 NA 0.0317 0.0582 0.0419 0.08 NA 0.04 0.04 0.0582 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 0.520297 NA NA 0.074535 0.056287 NA 0.051 NA 4.794665 1181 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 1181 3 124802677 124802677 A G UTR3 SLC12A8 NM_024628:c.*57T>C,NM_001195483:c.*57T>C NA NA UTR3 ENSG00000221955 ENST00000430155:c.*57T>C,ENST00000423114:c.*57T>C,ENST00000393469:c.*57T>C,ENST00000473262:c.*1690T>C,ENST00000469902:c.*57T>C NA NA NA NA 3q21.2 NA Name=NRSF NA NA rs1574340 0.61 0.61 0.605 0.623602 0.5388 0.5813 0.5994 0.8003 0.5327 0.55 0.56 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 1.206853 NA NA NA NA NA 0.58 NA 4.7945334 1181 X 48759204 48759204 C T intronic PQBP1 NA NA NA intronic ENSG00000102103 NA NA NA Score=278;Name=lod=18 NA Xp11.23 NA NA NA NA rs741932 0.61 0.61 0.60572 NA NA NA NA NA NA 0.57 0.71 0.6 0.56 0.6124 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.865526 2.865526 NA 0.593193 0.539244 NA 0.384 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081326.3;CLNDSDB=.;CLNDSDBID=. 4.794407 1181 16 23536684 23536684 T C exonic EARS2 NA nonsynonymous SNV EARS2:NM_001083614:exon8:c.A1369G:p.S457G exonic ENSG00000103356 NA nonsynonymous SNV ENSG00000103356:ENST00000449606:exon8:c.A1369G:p.S457G,ENSG00000103356:ENST00000563232:exon8:c.A1369G:p.S457G,ENSG00000103356:ENST00000563459:exon8:c.A1369G:p.S457G,ENSG00000103356:ENST00000564501:exon8:c.A1369G:p.S457G NA NA 16p12.2 NA NA NA NA rs6497671 0.8 0.8 0.809 0.801917 0.8499 0.7163 0.866 0.8109 0.7832 0.84 0.69 0.85 0.81 0.8306 0.86 0.41 T 0.0 B 0.0 B 0.231 N 1.000 P -1.3 N 0.97 T -1.029 T 0.000 T 0.03 -1.009 0.247 0.794 -0.062 -0.616 8.869 -1.009262 NA 0.39 0.858564 0.830273 NA 0.877 NA 4.7942694 1181 15 41860411 41860411 G A intronic TYRO3 NA NA NA intronic ENSG00000092445 NA NA NA NA NA 15q15.1 Score=708;Name=V$NRSF_01 Name=HEY1 NA NA rs7171675 0.31 0.31 0.336 0.332668 0.4245 0.0228 0.2983 0.5083 0.3446 0.42 0.02 0.31 0.48 0.3679 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557 NA NA 0.413488 0.496823 NA 0.435 NA 4.794112 1181 10 97074887 97074887 T C intronic SORBS1 NA NA NA intronic ENSG00000095637 NA NA NA NA NA 10q24.1 Score=722;Name=V$LUN1_01 NA NA NA rs35348091 0.04 0.04 0.04 0.0315495 0.0845 0.002 0.0447 0.0076 0.0307 0.09 NA 0.05 0.01 0.0524 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 1.722006 1.722006 NA 0.069535 0.014532 NA 0.065 NA 4.793565 1181 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 1181 2 128870808 128870808 T C exonic UGGT1 NA synonymous SNV UGGT1:NM_020120:exon6:c.T672C:p.N224N exonic ENSG00000136731 NA synonymous SNV ENSG00000136731:ENST00000259253:exon6:c.T672C:p.N224N,ENSG00000136731:ENST00000375990:exon6:c.T600C:p.N200N Score=451;Name=lod=91 NA 2q14.3 Score=926;Name=V$LHX3_01 NA NA NA rs4662775 0.86 0.86 0.848 0.823283 0.9801 0.8512 0.9035 0.6543 0.8047 0.98 0.81 0.92 0.67 0.9205 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 0.755644 NA NA 0.973721 0.725374 NA 0.826 NA 4.7923456 1181 1 212799870 212799870 A G exonic FAM71A NA nonsynonymous SNV FAM71A:NM_153606:exon1:c.A1651G:p.N551D exonic ENSG00000162771 NA nonsynonymous SNV ENSG00000162771:ENST00000294829:exon1:c.A1651G:p.N551D NA NA 1q32.3 NA NA NA NA rs3122713 0.76 0.76 0.746 0.784145 0.841 0.6796 0.755 0.7731 0.8691 0.85 0.63 0.77 0.77 0.8335 0.87 1 T 0.0 B 0.0 B . . 1.000 P -2.31 N 4.7 T -1.063 T 0.000 T 0.028 0.945 8.855 1.19 0.047 0.170 6.564 0.945443 NA 1 0.866512 0.790513 NA 0.812 NA 4.7923214 1181 12 9020489 9020489 A G exonic A2ML1 NA nonsynonymous SNV A2ML1:NM_144670:exon30:c.A3769G:p.M1257V exonic ENSG00000166535 NA nonsynonymous SNV ENSG00000166535:ENST00000539547:exon19:c.A2296G:p.M766V,ENSG00000166535:ENST00000541459:exon19:c.A2419G:p.M807V,ENSG00000166535:ENST00000299698:exon30:c.A3769G:p.M1257V NA NA 12p13.31 NA NA NA NA rs7308811 0.85 0.85 0.824 0.852636 0.8429 1 0.9035 0.6316 0.9734 0.85 1 0.88 0.64 0.8591 1 0.17 T 0.0 B 0.0 B 0.058 N 1.000 P -1.1 N 2.29 T -0.931 T 0.000 T 0.033 -1.509 0.017 -0.406 -0.090 -0.082 7.339 -1.509373 NA 0.23 0.839251 0.645726 NA 0.819 NA 4.7920824 1181 X 69652762 69652762 A G exonic GDPD2 NA synonymous SNV GDPD2:NM_001171191:exon13:c.A1302G:p.R434R,GDPD2:NM_001171193:exon14:c.A1302G:p.R434R,GDPD2:NM_017711:exon15:c.A1539G:p.R513R,GDPD2:NM_001171192:exon16:c.A1692G:p.R564R exonic ENSG00000130055 NA synonymous SNV ENSG00000130055:ENST00000538649:exon13:c.A1302G:p.R434R,ENSG00000130055:ENST00000536730:exon14:c.A1302G:p.R434R,ENSG00000130055:ENST00000374382:exon15:c.A1539G:p.R513R,ENSG00000130055:ENST00000453994:exon16:c.A1692G:p.R564R Score=272;Name=lod=17 NA Xq13.1 NA NA NA NA rs2296542 0.88 0.88 0.87361 NA NA NA NA NA NA 0.94 0.92 0.93 0.68 0.9237 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 0.279538 NA NA 0.950951 0.617471 NA 0.645 NA 4.7920156 1181 11 74049569 74049569 A G exonic PGM2L1 NA synonymous SNV PGM2L1:NM_173582:exon13:c.T1710C:p.S570S exonic ENSG00000165434 NA synonymous SNV ENSG00000165434:ENST00000298198:exon13:c.T1710C:p.S570S Score=624;Name=lod=458 NA 11q13.4 NA NA NA NA rs3867270 0.57 0.57 0.52 0.554712 0.6243 0.7887 0.6268 0.2133 0.6524 0.62 0.78 0.59 0.22 0.6208 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 1.249454 1.249454 NA 0.62963 0.287045 NA 0.449 NA 4.7919366 1181 5 112176325 112176325 G A exonic APC NA synonymous SNV APC:NM_001127511:exon14:c.G4980A:p.G1660G,APC:NM_000038:exon16:c.G5034A:p.G1678G,APC:NM_001127510:exon17:c.G5034A:p.G1678G exonic ENSG00000134982 NA synonymous SNV ENSG00000134982:ENST00000257430:exon16:c.G5034A:p.G1678G,ENSG00000134982:ENST00000457016:exon16:c.G5034A:p.G1678G,ENSG00000134982:ENST00000508376:exon17:c.G5034A:p.G1678G NA NA 5q22.2 NA NA NA NA rs42427 0.66 0.66 0.648 0.666733 0.6024 0.8165 0.7176 0.5189 0.7423 0.61 0.81 0.71 0.54 0.6514 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 -0.707303 NA NA 0.621047 0.529746 NA 0.623 CLINSIG=non-pathogenic|other;CLNDBN=not_specified|Familial_colorectal_cancer;CLNREVSTAT=mult|single;CLNACC=RCV000035074.2|RCV000074235.1;CLNDSDB=.|MedGen:OMIM;CLNDSDBID=.|CN029768:114500 4.7918196 1181 3 49936715 49936715 G A intronic MST1R NA NA NA intronic ENSG00000164078 NA NA NA NA NA 3p21.31 NA Name=CTCF_(SC-5916),CTCF NA NA rs41291716 0.05 0.05 0.054 0.0541134 0.0746 0.0198 0.0418 0.0787 0.044 0.07 0.03 0.04 0.07 0.0625 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 0.40303 NA NA 0.071279 0.077848 NA 0.058 NA 4.791621 1181 2 161174693 161174693 C T exonic RBMS1 NA synonymous SNV RBMS1:NM_002897:exon3:c.G297A:p.T99T,RBMS1:NM_016836:exon3:c.G297A:p.T99T exonic ENSG00000153250 NA synonymous SNV ENSG00000153250:ENST00000348849:exon3:c.G297A:p.T99T,ENSG00000153250:ENST00000392753:exon3:c.G297A:p.T99T,ENSG00000153250:ENST00000409075:exon3:c.G198A:p.T66T,ENSG00000153250:ENST00000409289:exon3:c.G198A:p.T66T,ENSG00000153250:ENST00000409972:exon3:c.G198A:p.T66T,ENSG00000153250:ENST00000428519:exon4:c.G198A:p.T66T NA NA 2q24.2 NA NA NA NA rs1430 0.31 0.31 0.288 0.261182 0.3032 0.5308 0.2104 0.1195 0.1677 0.31 0.52 0.23 0.14 0.2824 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312966 NA NA 0.290067 0.150477 ID=COSM1400395;OCCURENCE=1(large_intestine) 0.188 NA 4.7909996 1181 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 1181 8 10396054 10396054 A C exonic PRSS55 NA synonymous SNV PRSS55:NM_198464:exon5:c.A810C:p.I270I exonic ENSG00000184647 NA synonymous SNV ENSG00000184647:ENST00000328655:exon5:c.A810C:p.I270I Score=493;Name=lod=135 NA 8p23.1 NA NA NA NA rs6601483 0.67 0.67 0.615 0.669529 0.5964 0.7639 0.6902 0.6399 0.6728 0.6 0.76 0.67 0.66 0.649 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 0.757104 NA NA 0.630465 0.623014 NA 0.659 NA 4.7908016 1181 22 36587486 36587486 A G exonic APOL4 NA unknown UNKNOWN exonic ENSG00000100336 NA synonymous SNV ENSG00000100336:ENST00000352371:exon6:c.T690C:p.S230S,ENSG00000100336:ENST00000332987:exon7:c.T681C:p.S227S NA NA 22q12.3 NA NA Name=62 NA rs2227167 0.62 0.62 0.618 0.647364 0.497 0.8244 0.5317 0.7307 0.589 0.46 0.81 0.56 0.7 0.5456 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 -0.3485 NA NA 0.500583 0.664762 NA 0.616 NA 4.7901503 1181 12 14664595 14664595 A G exonic PLBD1 NA synonymous SNV PLBD1:NM_024829:exon7:c.T895C:p.L299L exonic ENSG00000121316 NA synonymous SNV ENSG00000121316:ENST00000240617:exon7:c.T895C:p.L299L NA NA 12p13.1 NA NA NA NA rs10846013 0.26 0.26 0.232 0.283546 0.2555 0.1925 0.3919 0.1876 0.4591 0.27 0.22 0.36 0.21 0.3167 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.035621 NA NA 0.304535 0.194961 NA 0.254 NA 4.7899316 1181 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 1181 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 1181 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 1181 10 99332488 99332488 A C exonic ANKRD2 NA synonymous SNV ANKRD2:NM_001129981:exon1:c.A24C:p.A8A,ANKRD2:NM_020349:exon1:c.A24C:p.A8A exonic ENSG00000165887 NA synonymous SNV ENSG00000165887:ENST00000298808:exon1:c.A24C:p.A8A,ENSG00000165887:ENST00000307518:exon1:c.A24C:p.A8A NA NA 10q24.2 NA NA NA NA rs12221474 0.33 0.33 0.324 0.353435 0.2724 0.5288 0.2666 0.2557 0.4499 0.26 0.52 0.27 0.28 0.3495 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.003043 NA NA 0.256166 0.233091 NA 0.239 NA 4.7886006 1181 11 57117385 57117385 C T intronic P2RX3 NA NA NA intronic ENSG00000109991 NA NA NA NA NA 11q12.1 NA Name=SMC3_(ab9263),Rad21,CTCF_(SC-5916),Znf143_(16618-1-AP),Pol2,CTCF Name=89 NA rs2276042 0.43 0.43 0.382 0.444089 0.3917 0.6687 0.5447 0.1278 0.6227 0.41 0.67 0.49 0.13 0.4443 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 1.500889 1.500889 NA 0.375815 0.168333 NA 0.384 NA 4.788185 1181 16 1261219 1261219 A G exonic CACNA1H NA synonymous SNV CACNA1H:NM_001005407:exon22:c.A4275G:p.S1425S,CACNA1H:NM_021098:exon22:c.A4275G:p.S1425S exonic ENSG00000196557 NA synonymous SNV ENSG00000196557:ENST00000565831:exon21:c.A4275G:p.S1425S,ENSG00000196557:ENST00000348261:exon22:c.A4275G:p.S1425S,ENSG00000196557:ENST00000358590:exon22:c.A4275G:p.S1425S NA NA 16p13.3 NA Name=Pol2 NA NA rs2753326 0.73 0.73 0.72 0.709665 0.6372 0.869 0.719 0.7511 0.5573 0.63 0.9 0.7 0.72 0.6431 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 -0.601885 NA NA 0.598542 0.730947 NA 0.754 NA 4.7878246 1181 1 85016177 85016177 A G intergenic GNG5,CTBS dist=43915;dist=2627 NA NA ncRNA_exonic ENSG00000122432 NA NA NA Score=532;Name=lod=193 NA 1p22.3 Score=761;Name=V$EVI1_01 NA NA NA rs1400777 0.43 0.43 0.453 0.476238 0.3489 0.2619 0.4063 0.7617 0.4918 0.35 0.24 0.42 0.77 0.5023 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 4.402624 4.402624 NA 0.361173 0.683803 NA 0.464 NA 4.787627 1181 16 1261222 1261222 A G exonic CACNA1H NA synonymous SNV CACNA1H:NM_001005407:exon22:c.A4278G:p.S1426S,CACNA1H:NM_021098:exon22:c.A4278G:p.S1426S exonic ENSG00000196557 NA synonymous SNV ENSG00000196557:ENST00000565831:exon21:c.A4278G:p.S1426S,ENSG00000196557:ENST00000348261:exon22:c.A4278G:p.S1426S,ENSG00000196557:ENST00000358590:exon22:c.A4278G:p.S1426S NA NA 16p13.3 NA Name=Pol2 NA NA rs2753325 0.73 0.73 0.72 0.709665 0.6372 0.869 0.719 0.7511 0.5573 0.63 0.9 0.7 0.72 0.6432 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 -0.813651 NA NA 0.598754 0.731516 NA 0.754 NA 4.7875126 1181 8 124121798 124121798 A G exonic WDR67 NA synonymous SNV WDR67:NM_001145088:exon10:c.A1374G:p.A458A,WDR67:NM_145647:exon10:c.A1374G:p.A458A exonic ENSG00000156787 NA synonymous SNV ENSG00000156787:ENST00000518805:exon4:c.A273G:p.A91A,ENSG00000156787:ENST00000519418:exon4:c.A378G:p.A126A,ENSG00000156787:ENST00000378080:exon9:c.A1059G:p.A353A,ENSG00000156787:ENST00000521676:exon9:c.A1005G:p.A335A,ENSG00000156787:ENST00000522420:exon9:c.A1059G:p.A353A,ENSG00000156787:ENST00000287380:exon10:c.A1374G:p.A458A,ENSG00000156787:ENST00000309336:exon10:c.A1374G:p.A458A,ENSG00000156787:ENST00000327098:exon10:c.A1374G:p.A458A NA NA 8q24.13 NA NA NA NA rs16897969 0.29 0.29 0.276 0.291334 0.2903 0.1538 0.3588 0.3865 0.2577 0.29 0.16 0.4 0.35 0.2901 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846852 NA NA 0.298837 0.370631 NA 0.239 NA 4.7874296 1181 1 109795608 109795608 T C exonic CELSR2 NA synonymous SNV CELSR2:NM_001408:exon1:c.T2907C:p.F969F exonic ENSG00000143126 NA synonymous SNV ENSG00000143126:ENST00000271332:exon1:c.T2907C:p.F969F Score=579;Name=lod=302 NA 1p13.3 Score=842;Name=V$ATF_01 NA NA NA rs437444 0.93 0.93 0.916 0.914337 0.9662 0.997 0.9654 0.7648 0.9417 0.96 1 0.96 0.77 0.9505 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.327814 NA NA 0.962558 0.817749 NA 0.913 NA 4.7874086 1181 22 29456733 29456733 T C exonic C22orf31 NA synonymous SNV C22orf31:NM_015370:exon2:c.A102G:p.S34S exonic ENSG00000100249 NA synonymous SNV ENSG00000100249:ENST00000216071:exon2:c.A102G:p.S34S Score=496;Name=lod=138 NA 22q12.1 NA NA NA NA rs6005977 0.48 0.48 0.484 0.483826 0.6431 0.3125 0.4914 0.4546 0.5307 0.63 0.29 0.51 0.46 0.5763 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 1.478492 1.478492 NA 0.660233 0.492964 ID=COSM1130467;OCCURENCE=1(prostate) 0.667 NA 4.7870336 1181 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=NRSF,Mxi1_(bHLH),STAT3,E2F4,Sin3Ak-20,IRF1,p300_(N-15),SP1,c-Myc,YY1_(C-20),FOXA2_(SC-6554),ZBTB33,GTF2F1_(RAP-74),c-Fos,YY1,BRCA1_(C-1863),CEBPB,CCNT2,TBP,Egr-1,Pol2(b),GTF2B,TAF7_(SQ-8),TCF12,CHD2_(N-1250),HA-E2F1,GATA2_(CG2-96),FOXA1_(SC-101058),Pol2(phosphoS2),Pol2,BCLAF1_(M33-P5B11),GATA-1,NELFe,ETS1,HEY1,ELF1_(SC-631),Pol2-4H8,BCL3,NFKB,RFX5_(N-494),TAF1,IRF3 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 1181 21 43161805 43161805 G A exonic RIPK4 NA synonymous SNV RIPK4:NM_020639:exon8:c.C1548T:p.D516D exonic ENSG00000183421 NA synonymous SNV ENSG00000183421:ENST00000332512:exon8:c.C1548T:p.D516D,ENSG00000183421:ENST00000542057:exon8:c.C1359T:p.D453D,ENSG00000183421:ENST00000544709:exon8:c.C1359T:p.D453D,ENSG00000183421:ENST00000352483:exon9:c.C1692T:p.D564D Score=451;Name=lod=91 NA 21q22.3 NA NA NA NA rs2838113 0.55 0.55 0.535 0.53095 0.659 0.6071 0.5764 0.2496 0.6687 0.66 0.63 0.61 0.26 0.602 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 -0.9764 NA NA 0.61907 0.310032 NA 0.246 NA 4.7865966 1181 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 1181 19 1242048 1242048 C T intronic ATP5D NA NA NA intronic ENSG00000099624 NA NA NA NA NA 19p13.3 NA Name=Egr-1,ZBTB7A_(SC-34508) NA NA rs2074513 0.2 0.2 0.168 0.167532 0.2137 0.3065 0.1499 0.0386 0.1636 0.21 0.33 0.15 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 2.900344 2.900344 NA NA NA NA 0.043 NA 4.7863 1181 5 112384802 112384802 G A exonic MCC NA synonymous SNV MCC:NM_002387:exon14:c.C2073T:p.D691D,MCC:NM_001085377:exon16:c.C2643T:p.D881D exonic ENSG00000171444 NA synonymous SNV ENSG00000171444:ENST00000302475:exon14:c.C2073T:p.D691D,ENSG00000171444:ENST00000515367:exon14:c.C1884T:p.D628D,ENSG00000171444:ENST00000408903:exon16:c.C2643T:p.D881D Score=352;Name=lod=36 NA 5q22.2 NA Name=CTCF NA NA rs6594664 0.88 0.88 0.856 0.863419 0.9642 0.9405 0.9539 0.5923 0.9826 0.97 0.95 0.96 0.59 0.942 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 -0.540213 NA NA 0.974419 0.629655 NA 0.855 NA 4.7860476 1181 16 70713787 70713787 A G intronic MTSS1L NA NA NA intronic ENSG00000132613 NA NA NA NA NA 16q22.1 NA NA Name=3 NA rs140016620 0.06 0.06 0.048 0.0579073 0.0736 0.1062 0.0634 0.0053 0.0593 0.07 0.09 0.06 0.01 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 -1.279545 NA NA 0.0638 0.015304 NA NA NA 4.7859 1181 2 99778985 99778985 T C exonic LIPT1 NA synonymous SNV LIPT1:NM_145199:exon2:c.T565C:p.L189L,LIPT1:NM_001204830:exon3:c.T565C:p.L189L,LIPT1:NM_015929:exon3:c.T565C:p.L189L,LIPT1:NM_145197:exon4:c.T565C:p.L189L,LIPT1:NM_145198:exon4:c.T565C:p.L189L exonic ENSG00000144182 NA synonymous SNV ENSG00000144182:ENST00000393471:exon2:c.T565C:p.L189L,ENSG00000144182:ENST00000340066:exon3:c.T565C:p.L189L,ENSG00000144182:ENST00000393473:exon3:c.T565C:p.L189L,ENSG00000144182:ENST00000434566:exon3:c.T565C:p.L189L,ENSG00000144182:ENST00000393474:exon4:c.T565C:p.L189L,ENSG00000144182:ENST00000393477:exon4:c.T565C:p.L189L Score=284;Name=lod=19 NA 2q11.2 NA NA NA NA rs2632277 0.61 0.61 0.6 0.594848 0.6322 0.8681 0.621 0.3306 0.6135 0.6 0.88 0.63 0.29 0.6127 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 -1.044112 NA NA 0.636047 0.408761 NA 0.652 NA 4.7857196 1181 10 5149649 5149649 T G intronic AKR1C3 NA NA NA intronic ENSG00000196139 NA NA NA NA NA 10p15.1 NA Name=Pol2 NA NA rs34320249 0.06 0.06 0.056 0.0477236 0.0895 0.001 0.0677 0.0643 0.0164 0.09 0.0017 0.07 0.06 0.0562 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 -0.935971 NA NA 0.068721 0.057649 NA 0.138 NA 4.785579 1181 7 53104078 53104078 G A exonic POM121L12 NA synonymous SNV POM121L12:NM_182595:exon1:c.G714A:p.P238P exonic ENSG00000221900 NA synonymous SNV ENSG00000221900:ENST00000408890:exon1:c.G714A:p.P238P NA NA 7p12.1 NA NA NA NA rs72598686 0.3 0.3 0.301 0.33127 0.2982 0.4315 0.2464 0.2209 0.4714 0.29 0.44 0.27 0.2 0.3115 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501029 NA NA 0.271442 0.215302 ID=COSM453222;OCCURENCE=1(breast) 0.203 NA 4.7855246 1181 10 129904560 129904560 C T exonic MKI67 NA synonymous SNV MKI67:NM_001145966:exon12:c.G4464A:p.T1488T,MKI67:NM_002417:exon13:c.G5544A:p.T1848T exonic ENSG00000148773 NA synonymous SNV ENSG00000148773:ENST00000368653:exon12:c.G4464A:p.T1488T,ENSG00000148773:ENST00000368654:exon13:c.G5544A:p.T1848T NA NA 10q26.2 NA NA NA NA rs2853346 0.29 0.29 0.298 0.28754 0.2992 0.3819 0.219 0.236 0.2965 0.3 0.34 0.23 0.27 0.2909 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.30867 NA NA 0.291047 0.251248 NA 0.232 NA 4.7855196 1181 10 88975783 88975783 C T intergenic FAM35A,NUTM2A dist=24561;dist=9422 NA NA ncRNA_intronic ENSG00000223482 NA NA NA Score=463;Name=lod=102 NA 10q23.2 NA NA NA NA rs28533204 0.22 0.22 0.222 0.248602 0.2147 0.0407 0.1715 0.4781 0.2423 0.23 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 1.476575 1.476575 0.05 NA NA NA 0.283 NA 4.7853 1181 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 1181 22 21106055 21106055 G A intronic PI4KA NA NA NA intronic ENSG00000241973 NA NA NA NA NA 22q11.21 NA Name=HMGN3 NA NA rs5751852 0.07 0.07 0.055 0.0716853 0.0736 0.0962 0.0692 0.062 0.0593 0.06 0.08 0.07 0.07 0.071 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 -0.486785 NA NA 0.070349 0.069224 NA 0.058 NA 4.785051 1182 11 6704051 6704051 G A intronic MRPL17 NA NA NA intronic ENSG00000158042 NA NA NA NA NA 11p15.4 NA Name=TAF1,PAX5-C20 NA NA rs16917042 0.07 0.07 0.069 0.0634984 0.0736 0.001 0.0778 0.1263 0.0225 0.07 0.0017 0.07 0.13 0.0689 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.207415 2.207415 NA 0.072509 0.135166 NA 0.123 NA 4.784991 1182 1 982844 982844 G C intronic AGRN NA NA NA intronic ENSG00000188157 NA NA NA NA NA 1p36.33 NA NA NA NA rs76264143 0.04 0.04 0.031 0.038738 0.0825 0.001 0.0533 0.003 0.0706 0.08 NA 0.07 NA 0.0577 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 -1.050064 NA NA 0.075017 0.013164 NA 0.014 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116263.2;CLNDSDB=.;CLNDSDBID=. 4.784783 1182 16 51173559 51173559 G A exonic SALL1 NA synonymous SNV SALL1:NM_001127892:exon2:c.C2283T:p.L761L,SALL1:NM_002968:exon2:c.C2574T:p.L858L exonic ENSG00000103449 NA synonymous SNV ENSG00000103449:ENST00000251020:exon2:c.C2574T:p.L858L,ENSG00000103449:ENST00000440970:exon2:c.C2283T:p.L761L,ENSG00000103449:ENST00000570206:exon2:c.C2283T:p.L761L NA NA 16q12.1 NA Name=MafK_(SC-477),MafF_(M8194) NA NA rs1965024 0.54 0.54 0.521 0.538738 0.6223 0.7173 0.634 0.1006 0.7935 0.64 0.71 0.62 0.13 0.6204 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.385271 NA NA 0.639884 0.202457 ID=COSM1128938;OCCURENCE=1(prostate) 0.435 NA 4.7840826 1182 1 230825942 230825942 A G intronic COG2 NA NA NA intronic ENSG00000135775 NA NA NA NA NA 1q42.2 NA Name=GATA-2 Name=27 NA rs3000064 0.25 0.25 0.23 0.226238 0.4324 0.1012 0.2334 0.0855 0.3282 0.45 0.12 0.25 0.1 0.351 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.174573 NA NA 0.432775 0.143668 NA 0.333 NA 4.783825 1182 19 52003331 52003331 G C exonic SIGLEC12 NA nonsynonymous SNV SIGLEC12:NM_033329:exon1:c.C297G:p.H99Q,SIGLEC12:NM_053003:exon2:c.C651G:p.H217Q exonic ENSG00000254521 NA nonsynonymous SNV ENSG00000254521:ENST00000598614:exon1:c.C297G:p.H99Q,ENSG00000254521:ENST00000291707:exon2:c.C651G:p.H217Q NA NA 19q13.41 NA NA NA NA rs6509544 0.8 0.8 0.837 0.825879 0.8569 0.5149 0.9035 0.9713 0.863 0.85 0.53 0.91 0.97 0.8399 0.97 1 T 0.005 B 0.0 B 0.802 N 1.000 P -1.975 N -0.04 T -0.955 T 0.000 T 0.009 -2.947 0.001 -0.443 -0.685 -0.122 2.497 -2.947224 NA 0.45 0.852907 0.947118 NA 0.884 NA 4.7836264 1182 6 169637701 169637701 T A intronic THBS2 NA NA NA ncRNA_intronic ENSG00000226445 NA NA NA NA NA 6q27 NA NA Name=2 NA rs12661185 0.14 0.14 0.137 0.166534 0.1759 0.0913 0.1801 0.1505 0.2464 0.18 0.09 0.18 0.12 0.183 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430106 NA NA 0.190814 0.149569 NA 0.196 NA 4.7836193 1182 4 187004217 187004217 C T exonic TLR3 NA synonymous SNV TLR3:NM_003265:exon4:c.C1377T:p.F459F exonic ENSG00000164342 NA synonymous SNV ENSG00000164342:ENST00000504367:exon2:c.C546T:p.F182F,ENSG00000164342:ENST00000296795:exon4:c.C1377T:p.F459F NA NA 4q35.1 NA NA NA NA rs3775290 0.28 0.28 0.25 0.272165 0.2734 0.3363 0.2738 0.1861 0.32 0.29 0.32 0.28 0.21 0.3007 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.411806 NA NA 0.309419 0.197231 ID=COSM1428947;OCCURENCE=1(large_intestine) 0.232 NA 4.7831476 1182 16 30999462 30999462 T C exonic HSD3B7 NA synonymous SNV HSD3B7:NM_025193:exon7:c.T1068C:p.R356R exonic ENSG00000099377 NA synonymous SNV ENSG00000099377:ENST00000297679:exon7:c.T1068C:p.R356R Score=346;Name=lod=34 NA 16p11.2 NA NA NA NA rs2305880 0.62 0.62 0.605 0.492812 0.6362 0.9058 0.5692 0.2027 0.2577 0.64 0.93 0.6 0.25 0.6033 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 1.132334 NA NA 0.644419 0.289486 NA 0.609 NA 4.7827476 1182 1 146751782 146751782 A C exonic CHD1L NA synonymous SNV CHD1L:NM_001256338:exon9:c.A1011C:p.I337I,CHD1L:NM_001256337:exon10:c.A780C:p.I260I,CHD1L:NM_001256336:exon14:c.A1323C:p.I441I,CHD1L:NM_004284:exon15:c.A1623C:p.I541I,CHD1L:NM_024568:exon15:c.A1284C:p.I428I exonic ENSG00000131778 NA synonymous SNV ENSG00000131778:ENST00000369259:exon9:c.A1011C:p.I337I,ENSG00000131778:ENST00000361293:exon10:c.A780C:p.I260I,ENSG00000131778:ENST00000431239:exon12:c.A1341C:p.I447I,ENSG00000131778:ENST00000369258:exon15:c.A1623C:p.I541I Score=376;Name=lod=45 NA 1q21.1 Score=914;Name=V$YY1_01 NA NA NA rs7547279 0.97 0.97 0.961 0.967851 0.9592 0.9881 0.9885 0.9433 0.9744 0.96 1 0.99 0.93 0.9658 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.395636 1.395636 NA 0.95907 0.943259 NA 0.949 NA 4.7825966 1182 4 858941 858941 T C exonic GAK NA synonymous SNV GAK:NM_005255:exon23:c.A3135G:p.A1045A exonic ENSG00000178950 NA synonymous SNV ENSG00000178950:ENST00000511163:exon20:c.A2898G:p.A966A,ENSG00000178950:ENST00000314167:exon23:c.A3135G:p.A1045A NA NA 4p16.3 NA NA NA NA rs1026738 0.97 0.97 0.979 0.975439 0.9612 1 0.8948 0.9977 0.9918 0.96 1 0.9 1 0.9604 1 . . . . . . . . 1.000 P . . . . -1.010 T 0.000 T . 0.188 5.015 1.21 0.041 -1.059 6.515 0.188383 NA NA 0.963213 0.989773 NA 0.79 NA 4.7818536 1182 19 44590558 44590558 C T exonic ZNF284 NA synonymous SNV ZNF284:NM_001037813:exon5:c.C927T:p.H309H exonic ENSG00000186026 NA synonymous SNV ENSG00000186026:ENST00000421176:exon5:c.C927T:p.H309H Score=278;Name=lod=18 NA 19q13.31 NA NA NA NA rs7255701 0.45 0.45 0.445 0.435304 0.665 0.2986 0.3631 0.2436 0.6503 0.67 0.32 0.43 0.26 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 -0.345708 NA NA 0.652612 0.336543 NA 0.493 NA 4.7813546 1182 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 1182 2 242129487 242129487 G T exonic ANO7 NA synonymous SNV ANO7:NM_001001666:exon2:c.G171T:p.R57R,ANO7:NM_001001891:exon2:c.G171T:p.R57R exonic ENSG00000146205 NA synonymous SNV ENSG00000146205:ENST00000274979:exon2:c.G171T:p.R57R,ENSG00000146205:ENST00000402430:exon2:c.G171T:p.R57R,ENSG00000146205:ENST00000402530:exon2:c.G171T:p.R57R NA NA 2q37.3 NA NA NA NA rs11695874 0.17 0.17 0.141 0.148762 0.3052 0.0208 0.1888 0.0968 0.1616 0.31 0.01 0.21 0.09 0.3071 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.012622 NA NA 0.273534 0.130068 NA 0.116 NA 4.7808326 1182 6 3723764 3723764 G T UTR3 PXDC1 NM_183373:c.*89C>A NA NA UTR3 ENSG00000168994 ENST00000380283:c.*89C>A,ENST00000380277:c.*89C>A NA NA NA NA 6p25.2 NA NA Name=3 NA rs1045778 0.35 0.35 0.332 0.323083 0.5527 0.2778 0.281 0.143 0.407 0.56 0.28 0.35 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 0.615261 NA NA NA NA NA 0.326 NA 4.7806334 1182 3 69230801 69230801 G A exonic FRMD4B NA synonymous SNV FRMD4B:NM_015123:exon21:c.C2100T:p.H700H exonic ENSG00000114541 NA synonymous SNV ENSG00000114541:ENST00000478263:exon11:c.C1056T:p.H352H,ENSG00000114541:ENST00000398540:exon21:c.C2100T:p.H700H,ENSG00000114541:ENST00000542259:exon22:c.C1938T:p.H646H Score=450;Name=lod=90 NA 3p14.1 Score=909;Name=V$SPZ1_01 NA NA NA rs9836305 0.8 0.8 0.793 0.770168 0.9901 0.6409 0.8847 0.6082 0.8149 0.99 0.65 0.9 0.63 0.9031 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 0.597557 NA NA 0.992905 0.655268 NA 0.833 NA 4.7805616 1182 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 1182 8 134260948 134260948 A G intronic NDRG1 NA NA NA intronic ENSG00000104419 NA NA NA NA NA 8q24.22 NA Name=Pol2 NA NA rs2233336 0.1 0.1 0.09 0.0926518 0.0646 0.2579 0.0533 0.0015 0.1022 0.07 0.26 0.05 NA 0.0904 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.146753 3.146753 NA 0.065116 0.013618 NA 0.036 NA 4.779884 1182 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 1182 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 1182 6 17543302 17543302 A G exonic CAP2 NA synonymous SNV CAP2:NM_006366:exon11:c.A1137G:p.K379K exonic ENSG00000112186 NA synonymous SNV ENSG00000112186:ENST00000493172:exon5:c.A357G:p.K119K,ENSG00000112186:ENST00000489374:exon8:c.A801G:p.K267K,ENSG00000112186:ENST00000465994:exon9:c.A945G:p.K315K,ENSG00000112186:ENST00000378990:exon10:c.A1059G:p.K353K,ENSG00000112186:ENST00000229922:exon11:c.A1137G:p.K379K Score=645;Name=lod=557 NA 6p22.3 NA NA NA NA rs9256 0.64 0.64 0.634 0.626398 0.6272 0.7331 0.5605 0.6233 0.5665 0.61 0.72 0.61 0.59 0.6192 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234713 NA NA 0.641395 0.654108 NA 0.551 NA 4.7788716 1182 10 95791613 95791613 T C exonic PLCE1 NA synonymous SNV PLCE1:NM_016341:exon2:c.T810C:p.C270C exonic ENSG00000138193 NA synonymous SNV ENSG00000138193:ENST00000371380:exon1:c.T810C:p.C270C,ENSG00000138193:ENST00000260766:exon2:c.T810C:p.C270C NA NA 10q23.33 NA NA NA NA rs17109671 0.47 0.47 0.511 0.460463 0.3032 0.4792 0.2608 0.7799 0.3129 0.32 0.52 0.3 0.77 0.3197 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 -1.14542 NA NA 0.265826 0.677529 ID=COSM1349909,COSM1349910;OCCURENCE=1(large_intestine) 0.493 NA 4.7779406 1182 3 3076443 3076443 A G exonic CNTN4 NA synonymous SNV CNTN4:NM_001206956:exon8:c.A924G:p.P308P,CNTN4:NM_175613:exon8:c.A927G:p.P309P,CNTN4:NM_001206955:exon16:c.A1911G:p.P637P,CNTN4:NM_175607:exon17:c.A1911G:p.P637P exonic ENSG00000144619 NA synonymous SNV ENSG00000144619:ENST00000448906:exon7:c.A927G:p.P309P,ENSG00000144619:ENST00000397459:exon8:c.A927G:p.P309P,ENSG00000144619:ENST00000358480:exon11:c.A1254G:p.P418P,ENSG00000144619:ENST00000427331:exon14:c.A1911G:p.P637P,ENSG00000144619:ENST00000397461:exon16:c.A1911G:p.P637P,ENSG00000144619:ENST00000418658:exon17:c.A1911G:p.P637P NA NA 3p26.2 Score=897;Name=V$YY1_01 NA NA NA rs6803232 0.58 0.58 0.581 0.560304 0.659 0.4534 0.5403 0.7065 0.3855 0.65 0.44 0.56 0.66 0.5878 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 0.68581 NA NA 0.641977 0.687245 ID=COSM1685443,COSM1685442;OCCURENCE=1(skin) 0.761 NA 4.7778896 1182 11 18195448 18195448 C T exonic MRGPRX4 NA synonymous SNV MRGPRX4:NM_054032:exon1:c.C645T:p.Y215Y exonic ENSG00000179817 NA synonymous SNV ENSG00000179817:ENST00000314254:exon1:c.C645T:p.Y215Y NA NA 11p15.1 NA NA NA NA rs4630269 0.34 0.34 0.328 0.330072 0.3032 0.4415 0.3415 0.2542 0.3374 0.31 0.48 0.33 0.23 0.3008 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.115829 NA NA 0.284999 0.244884 ID=COSM1178420;OCCURENCE=1(prostate) 0.21 NA 4.7776676 1182 11 102663482 102663482 A T ncRNA_intronic WTAPP1 NA NA NA ncRNA_intronic ENSG00000255282 NA NA NA NA NA 11q22.2 NA NA Name=14 NA rs1144391 0.21 0.21 NA 0.251597 0.3569 0.0913 0.2205 0.2398 0.3466 0.3 0.1 0.22 0.19 0.3044 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.088833 NA NA 0.228309 0.130958 NA 0.268 NA 4.7770576 1182 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=CTCF,Egr-1 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 1182 2 231256812 231256812 A G exonic SP140L NA synonymous SNV SP140L:NM_138402:exon12:c.A975G:p.A325A exonic ENSG00000185404 NA synonymous SNV ENSG00000185404:ENST00000396563:exon11:c.A870G:p.A290A,ENSG00000185404:ENST00000243810:exon12:c.A975G:p.A325A,ENSG00000185404:ENST00000415673:exon12:c.A975G:p.A325A,ENSG00000185404:ENST00000444636:exon12:c.A975G:p.A325A NA NA 2q37.1 NA NA NA NA rs7559665 0.22 0.22 0.211 0.204872 0.3221 0.0685 0.2248 0.1997 0.2178 0.31 0.06 0.27 0.25 0.2632 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045847 NA NA 0.305489 0.212318 NA 0.326 NA 4.7758776 1182 17 29233163 29233163 C T intronic TEFM NA NA NA intronic ENSG00000172171 NA NA NA NA NA 17q11.2 NA Name=Pol2-4H8,MEF2A,GABP,IRF4_(M-17),NFKB,KAP1,GATA-2,Pol2,FOSL2,p300,YY1,TBP,ELK4,GTF2F1_(RAP-74),IRF1,BATF,YY1_(C-20) NA NA rs11653096 0.13 0.13 0.055 0.144169 0.1074 0.1359 0.1859 0.0711 0.2597 0.09 0.16 0.18 0.09 0.0142 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.627205 NA NA 0.102589 0.067971 NA 0.029 NA 4.775811 1182 6 42162388 42162388 A G exonic GUCA1B NA synonymous SNV GUCA1B:NM_002098:exon1:c.T171C:p.Y57Y exonic ENSG00000112599 NA synonymous SNV ENSG00000112599:ENST00000230361:exon1:c.T171C:p.Y57Y Score=562;Name=lod=256 NA 6p21.1 NA NA NA NA rs3749921 0.6 0.6 0.564 0.584864 0.6372 0.8204 0.6354 0.2035 0.7679 0.63 0.86 0.67 0.22 0.6375 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 0.525525 NA NA 0.616628 0.313209 NA 0.594 NA 4.7753386 1182 1 109839400 109839400 C T intronic MYBPHL NA NA NA intronic ENSG00000221986 NA NA NA Score=487;Name=lod=127 NA 1p13.3 NA NA NA NA rs55660224 0.07 0.07 0.072 0.0650958 0.0805 0.0278 0.0346 0.1188 0.0368 0.08 0.03 0.05 0.12 0.0672 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376466 NA NA 0.077093 0.095325 NA 0.087 NA 4.775207 1182 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 1183 17 16344600 16344600 T C ncRNA_exonic SNORD65 NA NA NA ncRNA_exonic ENSG00000175061 NA NA NA NA NA 17p11.2 NA Name=HEY1,Pol2 Name=40 NA rs4617905 0.52 0.52 0.522 0.489617 0.6461 0.3214 0.5403 0.531 0.41 0.63 0.31 0.58 0.55 0.5757 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 1.031907 NA NA 0.670015 0.554224 NA 0.21 NA 4.7748516 1183 11 61895741 61895741 A G exonic INCENP NA synonymous SNV INCENP:NM_001040694:exon2:c.A108G:p.E36E,INCENP:NM_020238:exon2:c.A108G:p.E36E exonic ENSG00000149503 NA synonymous SNV ENSG00000149503:ENST00000278849:exon2:c.A108G:p.E36E,ENSG00000149503:ENST00000394818:exon2:c.A108G:p.E36E,ENSG00000149503:ENST00000533896:exon2:c.A108G:p.E36E Score=401;Name=lod=57 NA 11q12.3 NA NA NA NA rs1675131 0.4 0.4 0.383 0.351438 0.6859 0.131 0.3818 0.329 0.2434 0.68 0.08 0.42 0.32 0.5191 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 0.879891 NA NA 0.68702 0.367847 NA 0.391 NA 4.7746466 1183 8 70967607 70967607 T C exonic PRDM14 NA synonymous SNV PRDM14:NM_024504:exon7:c.A1416G:p.Q472Q exonic ENSG00000147596 NA synonymous SNV ENSG00000147596:ENST00000276594:exon7:c.A1416G:p.Q472Q Score=512;Name=lod=161 NA 8q13.3 NA NA NA NA rs3750225 0.7 0.7 0.723 0.717652 0.6143 0.7302 0.6282 0.8442 0.7035 0.61 0.72 0.63 0.86 0.6484 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 0.726104 NA NA 0.629535 0.811394 NA 0.681 NA 4.7744316 1183 1 27427041 27427041 T C exonic SLC9A1 NA synonymous SNV SLC9A1:NM_003047:exon12:c.A2205G:p.E735E exonic ENSG00000090020 NA synonymous SNV ENSG00000090020:ENST00000545949:exon11:c.A1188G:p.E396E,ENSG00000090020:ENST00000263980:exon12:c.A2205G:p.E735E Score=470;Name=lod=108 NA 1p36.11 NA NA Name=6 NA rs4418629 0.98 0.98 0.984 0.989217 0.9632 1 0.9798 1 0.9969 0.96 1 0.98 1 0.9694 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696855 NA NA 0.959884 0.993645 NA 0.993 NA 4.7741826 1183 19 55856083 55856083 T C intronic SUV420H2 NA NA NA UTR5 ENSG00000267531 ENST00000539076:c.-12T>C NA NA NA NA 19q13.42 NA Name=Rad21,AP-2gamma,CTCF Name=30 NA rs11084395 0.51 0.51 0.494 0.51897 0.4443 0.7183 0.4452 0.4372 0.5532 0.44 0.73 0.43 0.41 0.5306 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 -0.441476 NA NA 0.417798 0.453714 NA 0.645 NA 4.7739687 1183 X 130423359 130423359 C G UTR5 IGSF1 NM_001555:c.-2711G>C,NM_001170961:c.-2711G>C,NM_001170962:c.-2711G>C,NM_205833:c.-2711G>C NA NA UTR5 ENSG00000147255 ENST00000370903:c.-2711G>C NA NA NA NA Xq26.2 NA NA Name=28 NA rs6637829 0.47 0.47 0.42051 NA NA NA NA NA NA 0.5 0.55 0.61 0.24 0.5596 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.185402 NA NA NA NA NA 0.261 NA 4.7737334 1183 12 9305473 9305473 T C exonic PZP NA synonymous SNV PZP:NM_002864:exon31:c.A4068G:p.Q1356Q exonic ENSG00000126838 NA synonymous SNV ENSG00000126838:ENST00000381997:exon26:c.A3426G:p.Q1142Q,ENSG00000126838:ENST00000261336:exon31:c.A4068G:p.Q1356Q Score=243;Name=lod=13 NA 12p13.31 NA NA NA NA rs10771357 0.68 0.68 0.653 0.655152 0.6322 0.8899 0.5937 0.5318 0.6472 0.61 0.9 0.62 0.57 0.636 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 0.51788 NA NA 0.625465 0.554925 NA 0.609 NA 4.7730016 1183 7 149504116 149504116 C T intronic SSPO NA NA NA ncRNA_intronic ENSG00000197558 NA NA NA NA NA 7q36.1 NA Name=CTCF NA NA rs4461809 0.26 0.26 0.27 0.282348 0.1571 0.1895 0.2349 0.5068 0.2372 0.14 0.21 0.25 0.49 0.2482 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.097112 NA NA 0.15516 0.392572 NA 0.297 NA 4.7728733 1183 17 3977427 3977427 C T intronic ZZEF1 NA NA NA intronic ENSG00000074755 NA NA NA NA NA 17p13.2 NA Name=RFX5_(N-494),Pol2 NA NA rs79058840 0.07 0.07 0.059 0.0746805 0.0815 0.0615 0.1239 0.0061 0.1391 0.09 0.06 0.12 0.01 0.0828 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 0.705797 NA NA 0.063256 0.015207 NA 0.08 NA 4.772444 1183 19 49254573 49254573 T A intronic FUT1 NA NA NA intronic ENSG00000174951 NA NA NA NA NA 19q13.33 NA Name=c-Myc,Max,Pol2 Name=4 NA rs838137 0.61 0.61 0.61 0.657348 0.3688 0.6776 0.5576 0.9236 0.6442 0.37 0.73 0.53 0.91 0.503 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 -0.602616 NA NA 0.35598 0.834923 NA 0.696 NA 4.77222 1183 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 1183 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 1183 19 54545186 54545186 C T exonic VSTM1 NA synonymous SNV VSTM1:NM_198481:exon7:c.G537A:p.P179P exonic ENSG00000189068 NA synonymous SNV ENSG00000189068:ENST00000419106:exon4:c.G207A:p.P69P,ENSG00000189068:ENST00000376626:exon6:c.G444A:p.P148P,ENSG00000189068:ENST00000338372:exon7:c.G537A:p.P179P,ENSG00000189068:ENST00000366170:exon7:c.G273A:p.P91P NA NA 19q13.42 NA NA NA NA rs73058793 0.21 0.21 0.222 0.18111 0.331 0.0645 0.2896 0.1384 0.1278 0.33 0.07 0.29 0.14 0.2543 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570429 NA NA 0.309651 0.169088 NA 0.21 NA 4.7717156 1183 3 178976777 178976777 C T UTR5 KCNMB3 NM_171829:c.-40G>A NA NA UTR5 ENSG00000171121 ENST00000392686:c.-40G>A,ENST00000485523:c.-40G>A NA NA Score=524;Name=lod=179 NA 3q26.32 NA NA Name=5 NA rs11720871 0.56 0.56 0.513 0.554513 0.5109 0.8889 0.6311 0.2231 0.6483 0.52 0.88 0.56 0.25 0.5586 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 1.370384 1.370384 NA 0.492907 0.249887 NA 0.42 NA 4.7709264 1183 14 105478102 105478102 G A exonic CDCA4 NA synonymous SNV CDCA4:NM_017955:exon2:c.C165T:p.N55N,CDCA4:NM_145701:exon2:c.C165T:p.N55N exonic ENSG00000170779 NA synonymous SNV ENSG00000170779:ENST00000336219:exon2:c.C165T:p.N55N,ENSG00000170779:ENST00000392590:exon2:c.C165T:p.N55N Score=620;Name=lod=440 NA 14q32.33 NA NA NA NA rs3803294 0.44 0.44 0.435 0.41893 0.6471 0.3056 0.5317 0.2073 0.5072 0.67 0.26 0.51 0.24 0.5848 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 1.142816 NA 0 0.665233 0.287789 NA 0.442 NA 4.7695336 1183 11 119005088 119005088 C T exonic HINFP NA synonymous SNV HINFP:NM_198971:exon10:c.C1434T:p.I478I,HINFP:NM_015517:exon11:c.C1434T:p.I478I exonic ENSG00000172273 NA synonymous SNV ENSG00000172273:ENST00000350777:exon10:c.C1434T:p.I478I Score=409;Name=lod=61 NA 11q23.3 NA Name=CTCF NA NA rs512703 0.98 0.98 0.987 0.98722 0.9622 1 0.9856 0.9977 0.9867 0.96 1 0.99 1 0.9735 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152051 NA NA 0.9617 0.993409 NA 0.993 NA 4.7692666 1183 6 54025155 54025155 T C intronic MLIP NA NA NA intronic ENSG00000146147 NA NA NA Score=446;Name=lod=87 NA 6p12.1 NA NA NA NA rs10484648 0.12 0.12 0.114 0.117013 0.0746 0.2143 0.1383 0.0605 0.1217 0.07 0.23 0.11 0.07 0.0983 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.967544 2.967544 NA 0.058256 0.052202 NA 0.051 NA 4.768844 1183 6 129381026 129381026 C A exonic LAMA2 NA synonymous SNV LAMA2:NM_000426:exon3:c.C381A:p.T127T,LAMA2:NM_001079823:exon3:c.C381A:p.T127T exonic ENSG00000196569 NA synonymous SNV ENSG00000196569:ENST00000421865:exon3:c.C381A:p.T127T NA NA 6q22.33 Score=854;Name=V$S8_01 NA NA NA rs4404787 0.96 0.96 0.959 0.936701 0.9702 0.9673 0.9841 0.8986 0.8885 0.97 0.98 0.99 0.91 0.9578 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.489648 NA NA 0.969884 0.903314 NA 0.877 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078766.2;CLNDSDB=.;CLNDSDBID=. 4.7687826 1183 17 3787726 3787726 G A intronic CAMKK1 NA NA NA intronic ENSG00000004660 NA NA NA Score=585;Name=lod=318 NA 17p13.2 NA NA NA NA rs3809803 0.09 0.09 0.082 0.0892572 0.0785 0.125 0.1052 0.0499 0.1053 0.07 0.14 0.13 0.04 0.0794 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.271489 2.271489 NA 0.073953 0.05379 NA 0.08 NA 4.768147 1183 21 44327013 44327013 A G intronic NDUFV3 NA NA NA intronic ENSG00000160194 NA NA NA NA NA 21q22.3 NA NA NA NA rs73905782 0.08 0.08 0.067 0.0756789 0.0964 0.122 0.0591 0.0159 0.0992 0.09 0.13 0.07 0.02 0.0798 0.13 . . . . . . . . 1.000 N . . . . . . . . . 0.228 5.232 1.22 0.353 -0.136 3.896 0.228252 NA NA 0.055751 0.019406 NA NA NA 4.768049 1183 3 142408606 142408606 G A exonic PLS1 NA synonymous SNV PLS1:NM_001145319:exon10:c.G1128A:p.P376P,PLS1:NM_001172312:exon10:c.G1128A:p.P376P,PLS1:NM_002670:exon10:c.G1128A:p.P376P exonic ENSG00000120756 NA synonymous SNV ENSG00000120756:ENST00000337777:exon10:c.G1128A:p.P376P,ENSG00000120756:ENST00000457734:exon10:c.G1128A:p.P376P,ENSG00000120756:ENST00000497002:exon10:c.G1128A:p.P376P Score=540;Name=lod=208 NA 3q23 NA NA NA NA rs6793735 0.63 0.63 0.671 0.615815 0.6551 0.3988 0.4669 0.9433 0.4622 0.66 0.41 0.53 0.93 0.5942 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.643747 NA NA 0.650349 0.894916 ID=COSM149488;OCCURENCE=1(stomach) 0.601 NA 4.7670176 1183 11 55606302 55606302 G T exonic OR5D16 NA synonymous SNV OR5D16:NM_001005496:exon1:c.G75T:p.L25L exonic ENSG00000205029 NA synonymous SNV ENSG00000205029:ENST00000378396:exon1:c.G75T:p.L25L NA NA 11q11 Score=859;Name=V$STAT5A_01 NA NA NA rs6591699 0.68 0.68 0.623 0.673123 0.6163 0.7718 0.683 0.6112 0.7065 0.62 0.77 0.69 0.65 0.6567 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 -0.846025 NA NA 0.627211 0.633348 NA 0.551 NA 4.7664556 1183 4 10669522 10669522 A C UTR5 CLNK NM_052964:c.-29T>G NA NA UTR5 ENSG00000109684 ENST00000226951:c.-29T>G,ENST00000442825:c.-96134T>G NA NA Score=441;Name=lod=83 NA 4p16.1 NA NA Name=9 NA rs13136927 0.43 0.43 0.403 0.411741 0.5417 0.3472 0.451 0.295 0.4744 0.53 0.38 0.48 0.31 0.4875 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.972012 1.972012 NA 0.537881 0.320263 NA 0.355 NA 4.7662524 1183 17 78921117 78921117 C T exonic RPTOR NA synonymous SNV RPTOR:NM_001163034:exon23:c.C2757T:p.N919N,RPTOR:NM_020761:exon27:c.C3231T:p.N1077N exonic ENSG00000141564 NA synonymous SNV ENSG00000141564:ENST00000544334:exon23:c.C2757T:p.N919N,ENSG00000141564:ENST00000306801:exon27:c.C3231T:p.N1077N NA NA 17q25.3 NA NA NA NA rs4969231 0.22 0.22 0.208 0.197684 0.3052 0.2044 0.2795 0.0219 0.2597 0.32 0.2 0.29 0.04 0.2749 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.852368 NA NA 0.320349 0.073536 ID=COSM1387173;OCCURENCE=1(large_intestine) 0.13 NA 4.7662176 1183 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 1183 17 1542153 1542153 G A exonic SCARF1 NA synonymous SNV SCARF1:NM_003693:exon8:c.C1311T:p.G437G,SCARF1:NM_145350:exon8:c.C1311T:p.G437G exonic ENSG00000074660 NA synonymous SNV ENSG00000074660:ENST00000348987:exon6:c.C1053T:p.G351G,ENSG00000074660:ENST00000263071:exon8:c.C1311T:p.G437G,ENSG00000074660:ENST00000571272:exon8:c.C1311T:p.G437G Score=363;Name=lod=40 NA 17p13.3 NA NA NA NA rs2272012 0.67 0.67 0.643 0.645767 0.6332 0.877 0.6902 0.4244 0.6881 0.63 0.89 0.69 0.46 0.647 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 1.269966 1.269966 NA 0.620698 0.464805 NA 0.391 NA 4.7657686 1183 22 50552736 50552736 T C intronic MOV10L1 NA NA NA intronic ENSG00000073146 NA NA NA NA NA 22q13.33 NA Name=c-Fos,c-Jun NA NA rs4240525 0.24 0.24 0.204 0.246406 0.2346 0.248 0.3833 0.121 0.3292 0.23 0.31 0.34 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 0.301791 NA NA NA NA ID=COSN166794;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.188 NA 4.7654 1183 20 36859711 36859711 G A exonic KIAA1755 NA synonymous SNV KIAA1755:NM_001029864:exon5:c.C1764T:p.A588A exonic ENSG00000149633 NA synonymous SNV ENSG00000149633:ENST00000279024:exon5:c.C1764T:p.A588A NA NA 20q11.23 NA NA NA NA rs1205418 0.27 0.27 0.261 0.260184 0.2833 0.2778 0.2219 0.2458 0.2648 0.29 0.26 0.24 0.26 0.3137 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.880569 NA NA 0.304302 0.273037 NA 0.304 NA 4.7653646 1183 1 201047075 201047075 A G exonic CACNA1S NA synonymous SNV CACNA1S:NM_000069:exon11:c.T1551C:p.G517G exonic ENSG00000081248 NA synonymous SNV ENSG00000081248:ENST00000362061:exon11:c.T1551C:p.G517G,ENSG00000081248:ENST00000367338:exon11:c.T1551C:p.G517G Score=304;Name=lod=23 NA 1q32.1 NA NA NA NA rs4915477 0.62 0.62 0.656 0.571086 0.6571 0.2302 0.6484 0.9433 0.2761 0.65 0.27 0.7 0.95 0.5839 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 0.984659 NA NA 0.660465 0.883568 NA 0.71 NA 4.7652016 1184 17 80426635 80426635 T C intronic NARF NA NA NA intronic ENSG00000141562 NA NA NA NA NA 17q25.3 NA Name=JunD NA NA rs2306752 0.07 0.07 0.081 0.067492 0.0905 0.1567 0.036 0.0038 0.0603 0.09 0.13 0.05 0.0041 0.0644 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.503206 1.503206 NA 0.080349 0.016114 NA 0.022 NA 4.764751 1184 13 32676114 32676114 A G exonic FRY NA synonymous SNV FRY:NM_023037:exon3:c.A285G:p.T95T exonic ENSG00000073910 NA synonymous SNV ENSG00000073910:ENST00000380250:exon3:c.A285G:p.T95T,ENSG00000073910:ENST00000436046:exon3:c.A276G:p.T92T Score=518;Name=lod=170 NA 13q13.1 NA NA NA NA rs364995 0.57 0.57 0.557 0.58147 0.66 0.4167 0.5403 0.6059 0.6667 0.66 0.41 0.57 0.61 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 0.961161 NA NA 0.637457 0.588074 NA 0.609 NA 4.7645096 1184 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 1184 10 78868204 78868204 G A intronic KCNMA1 NA NA NA intronic ENSG00000156113 NA NA NA Score=746;Name=lod=1428 NA 10q22.3 NA NA NA NA rs45459294 0.04 0.04 0.037 0.0385383 0.0815 0.003 0.0504 0.0045 0.0685 0.08 0.01 0.06 0.01 0.065 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 3.758862 3.758862 NA 0.089884 0.019292 NA 0.014 NA 4.763616 1184 20 32248163 32248163 C T exonic NECAB3 NA synonymous SNV NECAB3:NM_031231:exon6:c.G426A:p.T142T,NECAB3:NM_031232:exon6:c.G426A:p.T142T exonic ENSG00000125967 NA synonymous SNV ENSG00000125967:ENST00000246190:exon6:c.G426A:p.T142T,ENSG00000125967:ENST00000375238:exon6:c.G426A:p.T142T,ENSG00000125967:ENST00000439478:exon6:c.G426A:p.T142T,ENSG00000125967:ENST00000485399:exon6:c.G426A:p.T142T,ENSG00000125967:ENST00000606690:exon6:c.G426A:p.T142T,ENSG00000125967:ENST00000607805:exon6:c.G426A:p.T142T NA NA 20q11.22 NA NA NA NA rs3746460 0.31 0.31 0.312 0.295327 0.3181 0.3909 0.2104 0.2769 0.2587 0.34 0.35 0.23 0.28 0.2895 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.06037 NA NA 0.295541 0.26564 NA 0.29 NA 4.7635256 1184 19 31769763 31769763 G A exonic TSHZ3 NA synonymous SNV TSHZ3:NM_020856:exon2:c.C936T:p.V312V exonic ENSG00000121297 NA synonymous SNV ENSG00000121297:ENST00000240587:exon2:c.C936T:p.V312V NA NA 19q12 NA NA NA NA rs12461253 0.35 0.35 0.316 0.35004 0.2962 0.5734 0.3098 0.236 0.3579 0.29 0.55 0.3 0.26 0.3156 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.701844 NA NA 0.291395 0.225601 NA 0.21 NA 4.7634716 1184 14 22739862 22739862 A T intergenic OR4E2,DAD1 dist=605624;dist=293945 NA NA exonic ENSG00000211816 NA synonymous SNV ENSG00000211816:ENST00000390464:exon1:c.A9T:p.R3R NA NA 14q11.2 NA NA Name=4 NA rs2075500 0.34 0.34 0.351 0.344848 0.2286 0.4454 0.281 0.4576 0.2536 0.23 0.48 0.27 0.42 0.2757 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325055 NA NA 0.232653 0.392767 NA 0.275 NA 4.763047 1184 4 3213832 3213832 G A exonic HTT NA synonymous SNV HTT:NM_002111:exon48:c.G6591A:p.E2197E exonic ENSG00000197386 NA synonymous SNV ENSG00000197386:ENST00000355072:exon48:c.G6591A:p.E2197E NA NA 4p16.3 NA NA NA NA rs362336 0.28 0.28 0.238 0.239617 0.3151 0.3542 0.2939 0.0946 0.2014 0.32 0.36 0.31 0.09 0.29 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.426754 NA NA 0.298955 0.153319 NA 0.37 NA 4.7626116 1184 14 22740270 22740270 G A intergenic OR4E2,DAD1 dist=606032;dist=293537 NA NA exonic ENSG00000211816 NA synonymous SNV ENSG00000211816:ENST00000390464:exon2:c.G174A:p.K58K Score=446;Name=lod=87 NA 14q11.2 NA NA NA NA rs2075502 0.34 0.34 0.342 0.345048 0.2286 0.4454 0.281 0.4584 0.2536 0.23 0.48 0.27 0.42 0.2757 0.48 NA NA 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 0.233091 0.395812 NA 0.275 NA 4.762609 1184 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 1184 2 218940259 218940259 C T exonic RUFY4 NA synonymous SNV RUFY4:NM_198483:exon9:c.C1044T:p.P348P exonic ENSG00000188282 NA synonymous SNV ENSG00000188282:ENST00000374155:exon8:c.C1104T:p.P368P,ENSG00000188282:ENST00000344321:exon9:c.C1044T:p.P348P NA NA 2q35 NA NA NA NA rs7423696 0.24 0.24 0.213 0.231829 0.3052 0.2312 0.3444 0.034 0.3446 0.32 0.25 0.31 0.05 0.3124 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092337 NA NA 0.28687 0.07322 NA 0.254 NA 4.7621966 1184 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 1184 9 136132873 136132873 T C exonic ABO NA unknown UNKNOWN ncRNA_exonic ENSG00000175164 NA NA NA NA NA 9q34.2 NA NA Name=17 NA rs8176720 0.43 0.43 0.41 0.453275 0.337 0.4831 0.4942 0.4894 0.4642 0.34 0.48 0.45 0.49 0.3991 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.767192 NA NA 0.335373 0.443427 ID=COSM150738;OCCURENCE=1(stomach) 0.312 NA 4.7618603 1184 2 207833983 207833983 A G exonic CPO NA synonymous SNV CPO:NM_173077:exon9:c.A948G:p.T316T exonic ENSG00000144410 NA synonymous SNV ENSG00000144410:ENST00000272852:exon9:c.A948G:p.T316T NA NA 2q33.3 NA NA NA NA rs7582305 0.29 0.29 0.308 0.288139 0.3032 0.2589 0.2003 0.3714 0.2526 0.3 0.26 0.22 0.35 0.2961 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.100519 NA NA 0.305698 0.354063 NA 0.428 NA 4.7616686 1184 12 82747128 82747128 A C intronic CCDC59 NA NA NA intronic ENSG00000133773 NA NA NA NA NA 12q21.31 Score=848;Name=V$FREAC7_01 NA NA NA rs17774157 0.04 0.04 0.031 0.0423323 0.0805 0.002 0.0591 0.0182 0.0654 0.07 0.0017 0.06 0.02 0.0688 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 2.605365 2.605365 NA 0.089248 0.03064 NA 0.043 NA 4.761452 1184 17 79682558 79682558 T C exonic SLC25A10 NA synonymous SNV SLC25A10:NM_001270888:exon3:c.T264C:p.R88R,SLC25A10:NM_001270953:exon3:c.T264C:p.R88R,SLC25A10:NM_012140:exon3:c.T264C:p.R88R exonic ENSG00000183048,ENSG00000262660 NA nonsynonymous SNV ENSG00000183048:ENST00000574884:exon2:c.T163C:p.C55R NA NA 17q25.3 NA NA NA NA rs2072700 0.42 0.42 0.439 0.426318 0.4384 0.3859 0.4582 0.4985 0.3354 0.41 0.33 0.45 0.52 0.3982 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.189974 NA NA 0.401977 0.488652 ID=COSM437799;OCCURENCE=1(breast) 0.449 NA 4.761423 1184 8 33369994 33369994 A G exonic TTI2 NA synonymous SNV TTI2:NM_025115:exon1:c.T138C:p.N46N,TTI2:NM_001102401:exon2:c.T138C:p.N46N,TTI2:NM_001265581:exon2:c.T138C:p.N46N exonic ENSG00000129696 NA synonymous SNV ENSG00000129696:ENST00000360742:exon1:c.T138C:p.N46N,ENSG00000129696:ENST00000520636:exon1:c.T138C:p.N46N,ENSG00000129696:ENST00000431156:exon2:c.T138C:p.N46N,ENSG00000129696:ENST00000523305:exon3:c.T138C:p.N46N NA NA 8p12 NA NA Name=60 NA rs3098657 0.61 0.61 0.622 0.578874 0.6551 0.5565 0.4957 0.6702 0.4591 0.65 0.56 0.51 0.69 0.6016 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 0.201849 NA NA 0.648605 0.670676 NA 0.717 NA 4.7613616 1184 11 66258916 66258916 G A intronic DPP3 NA NA NA intronic ENSG00000254986 NA NA NA NA NA 11q13.2 NA Name=CTCF_(SC-5916),CTCF,ZBTB7A_(SC-34508),TBP,Rad21 Name=5 NA rs75546553 0.35 0.35 0.311 0.386781 0.3917 0.4524 0.5576 0.084 0.6022 0.4 0.43 0.51 0.08 0.4379 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.652505 NA NA 0.409292 0.15075 NA 0.355 NA 4.761108 1184 19 10419130 10419130 C T exonic ZGLP1 NA synonymous SNV ZGLP1:NM_001103167:exon1:c.G228A:p.P76P exonic ENSG00000220201 NA synonymous SNV ENSG00000220201:ENST00000403903:exon1:c.G228A:p.P76P NA NA 19p13.2 NA NA NA NA rs281417 0.24 0.24 0.276 0.254393 0.2922 0.1121 0.2061 0.3328 0.2904 0.28 0.09 0.22 0.39 0.2955 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.304281 NA NA 0.318281 0.283918 ID=COSM329626,COSM329625;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.319 NA 4.7606856 1184 11 65629932 65629932 T C exonic MUS81 NA synonymous SNV MUS81:NM_025128:exon6:c.T537C:p.A179A exonic ENSG00000172732 NA synonymous SNV ENSG00000172732:ENST00000525768:exon5:c.T312C:p.A104A,ENSG00000172732:ENST00000308110:exon6:c.T537C:p.A179A,ENSG00000172732:ENST00000533035:exon6:c.T312C:p.A104A NA NA 11q13.1 NA NA NA NA rs659857 0.45 0.45 0.426 0.428115 0.668 0.3323 0.4063 0.2012 0.6022 0.67 0.3 0.48 0.24 0.5752 0.67 . . . . . . . . 1.000 P . . . . -0.966 T 0.000 T . 1.968 12.54 -0.966 0.033 -0.653 0.864 1.96788 1.96788 NA 0.663524 0.253748 NA NA NA 4.7599426 1184 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 1184 14 94417421 94417421 G A exonic ASB2 NA synonymous SNV ASB2:NM_016150:exon4:c.C660T:p.N220N,ASB2:NM_001202429:exon6:c.C804T:p.N268N exonic ENSG00000100628 NA synonymous SNV ENSG00000100628:ENST00000556062:exon3:c.C342T:p.N114N,ENSG00000100628:ENST00000315988:exon4:c.C660T:p.N220N,ENSG00000100628:ENST00000555507:exon4:c.C498T:p.N166N,ENSG00000100628:ENST00000555019:exon6:c.C804T:p.N268N NA NA 14q32.12 Score=734;Name=V$PAX4_04 NA NA NA rs7147919 0.59 0.59 0.595 0.555112 0.6541 0.7817 0.4769 0.3215 0.591 0.64 0.8 0.51 0.34 0.6053 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 0.575005 NA NA 0.647558 0.385384 NA 0.536 NA 4.7597086 1184 15 57838222 57838222 G A intronic CGNL1 NA NA NA intronic ENSG00000128849 NA NA NA NA NA 15q21.3 NA Name=CTCF NA NA rs8035822 0.29 0.29 0.309 0.323283 0.1243 0.377 0.1873 0.4697 0.3712 0.13 0.38 0.19 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 0.407508 NA NA 0.116022 0.410959 NA 0.333 NA 4.759678 1184 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 1184 12 29630081 29630081 G A exonic OVCH1 NA nonsynonymous SNV OVCH1:NM_183378:exon12:c.C1331T:p.T444I exonic ENSG00000187950 NA nonsynonymous SNV ENSG00000187950:ENST00000318184:exon12:c.C1331T:p.T444I NA NA 12p11.22 NA NA NA NA rs7975356 0.84 0.84 0.847 0.820887 0.8638 0.9147 0.8977 0.6445 0.864 0.87 0.9 0.92 0.69 0.8528 0.92 0.54 T . . . . . . 1.000 P . . 0.19 T -1.003 T 0.000 T 0.007 -1.137 0.112 0.208 -0.258 -0.211 2.836 -1.136822 NA 0.24 0.85749 0.649658 NA 0.797 NA 4.7592434 1184 17 74286106 74286106 C T exonic QRICH2 NA synonymous SNV QRICH2:NM_032134:exon5:c.G3267A:p.T1089T exonic ENSG00000129646 NA synonymous SNV ENSG00000129646:ENST00000447564:exon2:c.G291A:p.T97T,ENSG00000129646:ENST00000262765:exon5:c.G3267A:p.T1089T NA NA 17q25.1 NA NA NA NA rs4789274 0.44 0.44 0.483 0.454073 0.2753 0.5724 0.3055 0.6513 0.3548 0.26 0.58 0.29 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 -1.548081 NA NA 0.288488 0.613936 NA 0.399 NA 4.7590786 1184 7 5568366 5568366 A G intronic ACTB NA NA NA intronic ENSG00000075624 NA NA NA NA NA 7p22.1 NA Name=Oct-2,ZBTB33,Sin3Ak-20,Pol2(b),JunD,Pol2,POU2F2,Pol2-4H8,BCLAF1_(M33-P5B11),ETS1,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 1184 1 111783982 111783982 C A exonic CHI3L2 NA synonymous SNV CHI3L2:NM_001025197:exon8:c.C922A:p.R308R,CHI3L2:NM_001025199:exon8:c.C715A:p.R239R,CHI3L2:NM_004000:exon9:c.C952A:p.R318R exonic ENSG00000064886 NA synonymous SNV ENSG00000064886:ENST00000472825:exon2:c.C40A:p.R14R,ENSG00000064886:ENST00000497220:exon4:c.C331A:p.R111R,ENSG00000064886:ENST00000369744:exon8:c.C922A:p.R308R,ENSG00000064886:ENST00000466741:exon8:c.C715A:p.R239R,ENSG00000064886:ENST00000524472:exon8:c.C715A:p.R239R,ENSG00000064886:ENST00000369748:exon9:c.C952A:p.R318R,ENSG00000064886:ENST00000445067:exon11:c.C952A:p.R318R NA NA 1p13.3 NA NA NA NA rs13721 0.24 0.24 0.22 0.190296 0.333 0.1974 0.1729 0.0507 0.2372 0.38 0.2 0.28 0.05 0.2761 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.174949 NA NA 0.29907 0.103949 NA 0.188 NA 4.7584966 1184 12 133363006 133363006 G A exonic GOLGA3 NA synonymous SNV GOLGA3:NM_001172557:exon15:c.C3042T:p.L1014L,GOLGA3:NM_005895:exon15:c.C3042T:p.L1014L exonic ENSG00000090615 NA synonymous SNV ENSG00000090615:ENST00000450791:exon14:c.C3042T:p.L1014L,ENSG00000090615:ENST00000537452:exon14:c.C3042T:p.L1014L,ENSG00000090615:ENST00000204726:exon15:c.C3042T:p.L1014L,ENSG00000090615:ENST00000456883:exon15:c.C3042T:p.L1014L,ENSG00000090615:ENST00000545875:exon15:c.C3042T:p.L1014L NA NA 12q24.33 NA NA NA NA rs12823938 0.26 0.26 0.234 0.29393 0.2883 0.1944 0.2839 0.2958 0.407 0.27 0.19 0.29 0.32 0.3053 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076004 NA NA 0.315233 0.312528 ID=COSM1476360,COSM430787,COSM1628466;OCCURENCE=1(breast),1(liver) 0.08 NA 4.7578336 1184 4 165878609 165878609 T A exonic FAM218A NA synonymous SNV FAM218A:NM_153027:exon1:c.T435A:p.S145S exonic ENSG00000250486 NA synonymous SNV ENSG00000250486:ENST00000513876:exon1:c.T435A:p.S145S NA NA 4q32.3 NA NA NA NA rs3196673 0.24 0.24 0.238 0.240615 0.3091 0.0942 0.3487 0.2141 0.2802 0.3 0.1 0.33 0.24 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 0.15712 NA NA 0.315 0.229914 NA 0.239 NA 4.7575666 1184 4 38869562 38869562 G A intronic FAM114A1 NA NA NA intronic ENSG00000197712 NA NA NA NA NA 4p14 NA Name=Pol2 NA NA rs75372916 0.12 0.12 0.105 0.0806709 0.2425 0.0089 0.085 0.0091 0.0818 0.26 0.02 0.09 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 0.544928 NA NA NA NA NA 0.116 NA 4.7575 1184 19 4902754 4902754 G A exonic ARRDC5 NA synonymous SNV ARRDC5:NM_001080523:exon1:c.C126T:p.I42I exonic ENSG00000205784 NA synonymous SNV ENSG00000205784:ENST00000381781:exon1:c.C126T:p.I42I NA NA 19p13.3 NA NA NA NA rs2779168 0.16 0.16 0.15 0.129393 0.3181 NA 0.17 0.059 0.135 0.32 NA 0.17 0.08 0.2515 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.491862 NA NA 0.34001 0.101944 NA 0.181 NA 4.7570566 1184 X 30254530 30254530 A G exonic MAGEB3 NA synonymous SNV MAGEB3:NM_002365:exon5:c.A489G:p.V163V exonic ENSG00000198798 NA synonymous SNV ENSG00000198798:ENST00000361644:exon5:c.A489G:p.V163V,ENSG00000198798:ENST00000378986:exon5:c.A489G:p.V163V NA NA Xp21.2 NA NA NA NA rs2071310 0.47 0.47 0.44118 NA NA NA NA NA NA 0.49 0.53 0.52 0.32 0.4625 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06049 NA NA 0.447384 0.338377 ID=COSM1132337;OCCURENCE=1(prostate) 0.333 NA 4.7567826 1184 6 32627956 32627956 C G UTR3 HLA-DQB1 NM_002123:c.*57G>C,NM_001243961:c.*57G>C NA NA ncRNA_UTR3 ENSG00000179344 NA NA NA NA NA 6p21.32 NA Name=Pol2,Pol2-4H8 NA NA rs1063347 0.72 0.72 0.526 0.718251 0.7435 0.7401 0.817 0.6853 0.6442 0.74 0.67 0.85 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 0.091301 NA NA NA NA ID=COSN167742;OCCURENCE=1(large_intestine) NA NA 4.7565 1184 3 38350543 38350543 A G exonic SLC22A14 NA nonsynonymous SNV SLC22A14:NM_004803:exon4:c.A874G:p.S292G exonic ENSG00000144671 NA nonsynonymous SNV ENSG00000144671:ENST00000273173:exon4:c.A874G:p.S292G,ENSG00000144671:ENST00000448498:exon5:c.A874G:p.S292G NA NA 3p22.2 NA NA NA NA rs818817 0.83 0.83 0.837 0.836262 0.8559 0.7639 0.8069 0.8911 0.8374 0.84 0.77 0.82 0.89 0.8455 0.89 0.52 T 0.001 B 0.004 B 0.172 N 1.000 P -0.03 N 0.37 T -1.022 T 0.000 T 0.064 0.356 5.931 1.28 0.331 0.589 3.723 0.355758 NA 1 0.875581 0.870177 NA 0.862 NA 4.7563524 1184 2 62081012 62081012 A C exonic FAM161A NA synonymous SNV FAM161A:NM_001201543:exon1:c.T165G:p.A55A,FAM161A:NM_032180:exon1:c.T165G:p.A55A exonic ENSG00000170264 NA synonymous SNV ENSG00000170264:ENST00000307507:exon1:c.T165G:p.A55A,ENSG00000170264:ENST00000404929:exon1:c.T165G:p.A55A,ENSG00000170264:ENST00000405894:exon1:c.T165G:p.A55A,ENSG00000170264:ENST00000456262:exon1:c.T165G:p.A55A NA NA 2p15 NA Name=c-Myc,THAP1_(SC-98174),NRSF,TBP,Pol2,HA-E2F1,TAF7_(SQ-8),E2F6,TAF1,Pol2-4H8 Name=138 NA rs4270331 0.98 0.98 0.985 0.979433 0.9622 0.999 0.9438 0.9962 0.9796 0.97 1 0.96 0.99 0.9759 1 NA NA 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 0.972362 0.996492 NA 0.993 NA 4.7562046 1184 12 49334762 49334762 G C exonic ARF3 NA synonymous SNV ARF3:NM_001659:exon2:c.C117G:p.L39L exonic ENSG00000134287 NA synonymous SNV ENSG00000134287:ENST00000256682:exon2:c.C117G:p.L39L,ENSG00000134287:ENST00000398092:exon2:c.C117G:p.L39L,ENSG00000134287:ENST00000447318:exon2:c.C117G:p.L39L,ENSG00000134287:ENST00000541236:exon2:c.C117G:p.L39L,ENSG00000134287:ENST00000545855:exon2:c.C117G:p.L39L,ENSG00000134287:ENST00000541959:exon3:c.C117G:p.L39L,ENSG00000134287:ENST00000539611:exon4:c.C117G:p.L39L Score=677;Name=lod=752 NA 12q13.12 Score=730;Name=V$PAX4_04 NA NA NA rs12122 0.93 0.93 0.931 0.923123 0.9781 1 0.9625 0.761 0.9785 0.98 1 0.96 0.75 0.959 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014773 NA NA 0.973488 0.779392 NA 0.928 NA 4.7560786 1184 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 1184 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 1184 16 20410488 20410488 G A exonic PDILT NA synonymous SNV PDILT:NM_174924:exon2:c.C135T:p.L45L exonic ENSG00000169340 NA synonymous SNV ENSG00000169340:ENST00000302451:exon2:c.C135T:p.L45L,ENSG00000169340:ENST00000575561:exon2:c.C135T:p.L45L NA NA 16p12.3 NA NA NA NA rs7185940 0.31 0.31 0.288 0.346446 0.3091 0.1528 0.3876 0.4644 0.3957 0.31 0.16 0.4 0.43 0.3149 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.834748 NA NA 0.286744 0.424875 NA 0.261 NA 4.7559226 1184 10 43600689 43600689 A G intronic RET NA NA NA intronic ENSG00000165731 NA NA NA NA NA 10q11.21 NA Name=PAX5-C20 Name=132 NA rs2435352 0.39 0.39 0.379 0.390974 0.4076 0.4206 0.4236 0.2542 0.5051 0.41 0.43 0.41 0.28 0.4274 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.990803 NA NA 0.40925 0.302183 NA 0.319 NA 4.75575 1184 1 62675892 62675892 A G exonic L1TD1 NA synonymous SNV L1TD1:NM_019079:exon4:c.A1446G:p.E482E,L1TD1:NM_001164835:exon5:c.A1446G:p.E482E exonic ENSG00000240563 NA synonymous SNV ENSG00000240563:ENST00000498273:exon4:c.A1446G:p.E482E NA NA 1p31.3 NA Name=CTCF NA NA rs2481694 0.5 0.5 0.473 0.507588 0.6481 0.251 0.6254 0.5166 0.5317 0.65 0.22 0.63 0.5 0.6062 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 0.300098 NA NA 0.656744 0.537676 NA 0.638 NA 4.7556226 1184 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 1184 17 74163247 74163247 C T intronic RNF157 NA NA NA intronic ENSG00000141576 NA NA NA NA NA 17q25.1 NA NA Name=2 NA rs72868716 0.04 0.04 0.047 0.0495208 0.0944 0.002 0.0634 0.003 0.1053 0.09 NA 0.06 0.002 0.0672 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 -0.365709 NA NA 0.083023 0.018611 NA 0.08 NA 4.755377 1184 15 85149771 85149771 G T exonic ZSCAN2 NA nonsynonymous SNV ZSCAN2:NM_017894:exon3:c.G418T:p.V140F exonic ENSG00000176371 NA nonsynonymous SNV ENSG00000176371:ENST00000334141:exon3:c.G418T:p.V140F NA NA 15q25.2 NA NA NA NA rs2271433 0.92 0.92 0.925 0.905152 0.8459 0.9494 0.9035 0.9871 0.8108 0.86 0.95 0.9 0.98 0.8733 0.98 0.11 T 0.0 B 0.0 B . . 1.000 P . . 3.34 T -1.084 T 0.000 T 0.05 -1.209 0.068 0.865 -0.178 -0.441 3.681 -1.2086 NA 0.35 0.858921 0.969587 NA 0.949 NA 4.7552124 1184 10 95552925 95552925 T C intronic LGI1 NA NA NA intronic ENSG00000108231 NA NA NA NA NA 10q23.33 Score=820;Name=V$EVI1_04 NA NA NA rs1108877 0.22 0.22 0.248 0.240615 0.0686 0.1577 0.0793 0.6316 0.089 0.07 0.15 0.12 0.6 0.118 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.876571 NA NA 0.058372 0.557422 NA 0.246 NA 4.755028 1185 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 1185 2 189907937 189907937 A G exonic COL5A2 NA synonymous SNV COL5A2:NM_000393:exon48:c.T3411C:p.G1137G exonic ENSG00000204262 NA synonymous SNV ENSG00000204262:ENST00000374866:exon48:c.T3411C:p.G1137G Score=659;Name=lod=636 NA 2q32.2 Score=682;Name=V$BRACH_01 NA NA NA rs6434312 0.93 0.93 0.95 0.940895 0.9761 0.9127 0.8746 0.9425 0.9785 0.98 0.88 0.89 0.96 0.954 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 0.376014 NA NA 0.981977 0.950522 NA 0.957 NA 4.7545896 1185 17 74289500 74289500 G A exonic QRICH2 NA synonymous SNV QRICH2:NM_032134:exon4:c.C810T:p.V270V exonic ENSG00000129646 NA synonymous SNV ENSG00000129646:ENST00000262765:exon4:c.C810T:p.V270V NA NA 17q25.1 NA NA NA NA rs3803737 0.45 0.45 0.487 0.469449 0.2753 0.5724 0.3098 0.7073 0.3548 0.26 0.58 0.29 0.71 0.3482 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139426 NA NA 0.288721 0.663867 NA 0.406 NA 4.7544456 1185 19 6702157 6702157 C G exonic C3 NA synonymous SNV C3:NM_000064:exon19:c.G2421C:p.V807V exonic ENSG00000125730 NA synonymous SNV ENSG00000125730:ENST00000245907:exon19:c.G2421C:p.V807V Score=395;Name=lod=54 NA 19p13.3 NA NA NA NA rs428453 0.73 0.73 0.737 0.732428 0.6272 0.8512 0.7695 0.7103 0.7219 0.62 0.85 0.75 0.73 0.6664 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 -0.446495 NA NA 0.618837 0.701997 NA 0.63 NA 4.7542296 1185 2 31589847 31589847 G A exonic XDH NA synonymous SNV XDH:NM_000379:exon21:c.C2211T:p.I737I exonic ENSG00000158125 NA synonymous SNV ENSG00000158125:ENST00000379416:exon21:c.C2211T:p.I737I NA NA 2p23.1 NA NA NA NA rs2295475 0.27 0.27 0.235 0.270168 0.3032 0.3343 0.366 0.0703 0.3722 0.32 0.33 0.34 0.06 0.3037 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.685134 NA NA 0.305581 0.092828 NA 0.355 NA 4.7541856 1185 17 74289839 74289839 G A exonic QRICH2 NA synonymous SNV QRICH2:NM_032134:exon4:c.C471T:p.G157G exonic ENSG00000129646 NA synonymous SNV ENSG00000129646:ENST00000262765:exon4:c.C471T:p.G157G NA NA 17q25.1 NA NA NA NA rs6501881 0.45 0.45 0.491 0.469449 0.2753 0.5724 0.3098 0.7073 0.3548 0.26 0.58 0.29 0.71 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 -0.112592 NA NA 0.288953 0.664094 NA 0.399 NA 4.7540136 1185 13 111340342 111340342 G A exonic CARS2 NA synonymous SNV CARS2:NM_024537:exon4:c.C417T:p.L139L exonic ENSG00000134905 NA synonymous SNV ENSG00000134905:ENST00000542709:exon3:c.C390T:p.L130L,ENSG00000134905:ENST00000257347:exon4:c.C417T:p.L139L NA NA 13q34 NA NA NA NA rs2304767 0.19 0.19 0.157 0.147963 0.325 0.12 0.2176 0.0151 0.1247 0.32 0.14 0.21 0.02 0.253 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.432956 NA NA 0.334767 0.068316 NA 0.152 NA 4.7538996 1185 22 41551039 41551039 T A exonic EP300 NA synonymous SNV EP300:NM_001429:exon17:c.T3183A:p.T1061T exonic ENSG00000100393 NA synonymous SNV ENSG00000100393:ENST00000263253:exon17:c.T3183A:p.T1061T NA NA 22q13.2 NA NA NA NA rs20552 0.67 0.67 0.649 0.673922 0.6352 0.8175 0.7695 0.5091 0.7209 0.62 0.79 0.77 0.51 0.6572 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 1.100866 NA NA 0.620698 0.509759 NA 0.652 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079675.1;CLNDSDB=.;CLNDSDBID=. 4.7535686 1185 17 74289875 74289875 C T exonic QRICH2 NA synonymous SNV QRICH2:NM_032134:exon4:c.G435A:p.G145G exonic ENSG00000129646 NA synonymous SNV ENSG00000129646:ENST00000262765:exon4:c.G435A:p.G145G NA NA 17q25.1 NA NA NA NA rs6501882 0.45 0.45 0.48 0.469449 0.2753 0.5724 0.3098 0.7073 0.3548 0.26 0.58 0.29 0.71 0.3489 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214294 NA NA 0.288953 0.663867 NA 0.399 NA 4.7535136 1185 17 74289908 74289908 A G exonic QRICH2 NA synonymous SNV QRICH2:NM_032134:exon4:c.T402C:p.S134S exonic ENSG00000129646 NA synonymous SNV ENSG00000129646:ENST00000262765:exon4:c.T402C:p.S134S NA NA 17q25.1 NA NA NA NA rs6501883 0.45 0.45 0.499 0.469449 0.2753 0.5724 0.3098 0.7073 0.3548 0.26 0.58 0.29 0.71 0.3491 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.135649 NA NA 0.288953 0.664094 NA 0.399 NA 4.7533136 1185 19 36605552 36605552 G A intronic POLR2I NA NA NA intronic ENSG00000105258 NA NA NA NA NA 19q13.12 NA Name=HA-E2F1,Pol2 NA NA rs2231566 0.05 0.05 0.047 0.0565096 0.0865 0.0377 0.0504 0.0212 0.0971 0.09 0.02 0.06 0.02 0.0779 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 0.393735 NA NA 0.082326 0.030867 NA 0.08 NA 4.753274 1185 15 66215138 66215138 C T intronic MEGF11 NA NA NA intronic ENSG00000157890 NA NA NA NA NA 15q22.31 NA NA Name=2 NA rs11637615 0.05 0.05 0.036 0.0327476 0.0964 0.001 0.0403 0.0098 0.0256 0.1 0.0017 0.06 0.01 0.062 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 -0.658488 NA NA 0.088393 0.02567 NA 0.029 NA 4.753207 1185 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 1185 5 52193237 52193237 A G intronic ITGA1 NA NA NA intronic ENSG00000213949 NA NA NA NA NA 5q11.2 NA NA Name=3 NA rs870992 0.07 0.07 0.066 0.0573083 0.0825 0.0694 0.1052 0.0121 0.046 0.09 0.08 0.11 0.01 0.077 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 0.59613 NA NA 0.087483 0.023831 NA 0.014 NA 4.753017 1185 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 1185 5 96126308 96126308 A G exonic ERAP1 NA synonymous SNV ERAP1:NM_001040458:exon9:c.T1359C:p.S453S,ERAP1:NM_001198541:exon9:c.T1359C:p.S453S,ERAP1:NM_016442:exon9:c.T1359C:p.S453S exonic ENSG00000164307 NA synonymous SNV ENSG00000164307:ENST00000296754:exon9:c.T1359C:p.S453S,ENSG00000164307:ENST00000443439:exon9:c.T1359C:p.S453S Score=304;Name=lod=23 NA 5q15 NA NA NA NA rs27529 0.59 0.59 0.602 0.596046 0.6501 0.5456 0.5951 0.5976 0.591 0.66 0.51 0.58 0.58 0.6202 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 0.228137 NA NA 0.643721 0.596686 NA 0.522 NA 4.7526456 1185 19 12985576 12985576 A G exonic MAST1 NA synonymous SNV MAST1:NM_014975:exon26:c.A4605G:p.S1535S exonic ENSG00000105613 NA synonymous SNV ENSG00000105613:ENST00000251472:exon26:c.A4605G:p.S1535S NA NA 19p13.2 NA NA NA NA rs11085822 0.43 0.43 0.387 0.4373 0.2913 0.6181 0.3357 0.4304 0.4826 0.28 0.67 0.3 0.47 0.3539 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 -1.902803 NA NA 0.269204 0.407045 ID=COSM1480603,COSM438650;OCCURENCE=1(breast) 0.304 NA 4.7522626 1185 3 8787189 8787189 G C intronic CAV3 NA NA NA intronic ENSG00000182533 NA NA NA NA NA 3p25.3 NA NA NA NA rs57159780 0.06 0.06 0.052 0.0648962 0.0845 0.0089 0.0331 0.1354 0.0297 0.09 0.0017 0.03 0.09 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 1.436984 1.436984 NA 0.08907 0.127553 NA 0.036 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000024423.1;CLNDSDB=.;CLNDSDBID=. 4.75223 1185 8 143603418 143603418 G C exonic BAI1 NA synonymous SNV BAI1:NM_001702:exon20:c.G3117C:p.A1039A exonic ENSG00000181790 NA synonymous SNV ENSG00000181790:ENST00000323289:exon20:c.G3117C:p.A1039A,ENSG00000181790:ENST00000517894:exon21:c.G3117C:p.A1039A,ENSG00000181790:ENST00000521208:exon21:c.G3117C:p.A1039A Score=678;Name=lod=757 NA 8q24.3 Score=863;Name=V$YY1_01 NA NA NA rs7460600 0.91 0.91 0.909 0.903754 0.9821 0.9623 0.9611 0.7322 0.954 0.99 0.96 0.95 0.73 0.9562 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 1.013149 NA NA 0.97639 0.779827 NA 0.899 NA 4.7519766 1185 X 12937804 12937804 C T exonic TLR8 NA synonymous SNV TLR8:NM_138636:exon2:c.C645T:p.H215H exonic ENSG00000101916 NA synonymous SNV ENSG00000101916:ENST00000218032:exon2:c.C645T:p.H215H,ENSG00000101916:ENST00000311912:exon3:c.C699T:p.H233H NA NA Xp22.2 NA NA NA NA rs5744080 0.63 0.63 0.63275 NA NA NA NA NA NA 0.38 0.79 0.66 0.83 0.5223 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 -1.683014 NA NA 0.392448 0.750196 ID=COSM150765;OCCURENCE=1(stomach),1(large_intestine) 0.399 NA 4.7519186 1185 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 1185 14 95054176 95054176 T C exonic SERPINA5 NA synonymous SNV SERPINA5:NM_000624:exon3:c.T477C:p.P159P exonic ENSG00000188488 NA synonymous SNV ENSG00000188488:ENST00000554220:exon2:c.T477C:p.P159P,ENSG00000188488:ENST00000554276:exon2:c.T477C:p.P159P,ENSG00000188488:ENST00000554866:exon2:c.T477C:p.P159P,ENSG00000188488:ENST00000329597:exon3:c.T477C:p.P159P,ENSG00000188488:ENST00000554760:exon3:c.T477C:p.P159P,ENSG00000188488:ENST00000556775:exon3:c.T477C:p.P159P,ENSG00000188488:ENST00000553780:exon4:c.T477C:p.P159P NA NA 14q32.13 Score=717;Name=V$LUN1_01 NA NA NA rs6112 0.62 0.62 0.665 0.618011 0.6372 0.4087 0.4524 0.9486 0.4847 0.65 0.37 0.5 0.95 0.6157 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022752 NA NA 0.662907 0.897413 NA 0.783 NA 4.7508596 1185 16 28997997 28997997 G A exonic LAT NA synonymous SNV LAT:NM_014387:exon6:c.G447A:p.A149A,LAT:NM_001014987:exon7:c.G360A:p.A120A,LAT:NM_001014988:exon7:c.G357A:p.A119A,LAT:NM_001014989:exon8:c.G468A:p.A156A exonic ENSG00000213658 NA synonymous SNV ENSG00000213658:ENST00000570232:exon4:c.G120A:p.A40A,ENSG00000213658:ENST00000360872:exon6:c.G447A:p.A149A,ENSG00000213658:ENST00000566177:exon6:c.G444A:p.A148A,ENSG00000213658:ENST00000354453:exon7:c.G417A:p.A139A,ENSG00000213658:ENST00000395456:exon7:c.G360A:p.A120A,ENSG00000213658:ENST00000454369:exon7:c.G357A:p.A119A,ENSG00000213658:ENST00000395461:exon8:c.G468A:p.A156A,ENSG00000213658:ENST00000564277:exon8:c.G357A:p.A119A NA NA 16p11.2 NA NA NA NA rs1131543 0.24 0.24 0.25 0.239217 0.3052 0.3125 0.1772 0.1142 0.3088 0.29 0.31 0.23 0.1 0.2854 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23391 NA NA 0.325233 0.141329 NA 0.225 NA 4.7508336 1185 5 82875800 82875800 C T exonic VCAN NA synonymous SNV VCAN:NM_001126336:exon12:c.C1659T:p.V553V,VCAN:NM_001164097:exon13:c.C6921T:p.V2307V,VCAN:NM_001164098:exon13:c.C4620T:p.V1540V,VCAN:NM_004385:exon14:c.C9882T:p.V3294V exonic ENSG00000038427 NA synonymous SNV ENSG00000038427:ENST00000502527:exon12:c.C1659T:p.V553V,ENSG00000038427:ENST00000342785:exon13:c.C4620T:p.V1540V,ENSG00000038427:ENST00000343200:exon13:c.C6921T:p.V2307V,ENSG00000038427:ENST00000512590:exon13:c.C4476T:p.V1492V,ENSG00000038427:ENST00000265077:exon14:c.C9882T:p.V3294V Score=734;Name=lod=1288 NA 5q14.3 Score=747;Name=V$MYOGNF1_01 NA NA NA rs308365 0.99 0.99 0.994 0.992013 0.9751 1 0.987 0.9985 0.9959 0.98 1 0.99 1 0.9755 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.746611 NA NA 0.965349 0.993191 NA 0.906 NA 4.7507176 1185 13 95858978 95858978 T C exonic ABCC4 NA synonymous SNV ABCC4:NM_001105515:exon8:c.A969G:p.S323S,ABCC4:NM_005845:exon8:c.A969G:p.S323S exonic ENSG00000125257 NA synonymous SNV ENSG00000125257:ENST00000536256:exon7:c.A744G:p.S248S,ENSG00000125257:ENST00000376887:exon8:c.A969G:p.S323S,ENSG00000125257:ENST00000412704:exon8:c.A969G:p.S323S,ENSG00000125257:ENST00000431522:exon8:c.A969G:p.S323S NA NA 13q32.1 Score=827;Name=V$IRF1_01 NA NA NA rs2274405 0.61 0.61 0.613 0.625998 0.6282 0.5337 0.5375 0.7247 0.6483 0.61 0.55 0.57 0.7 0.6362 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 -0.804547 NA NA 0.65186 0.687926 ID=COSM147705;OCCURENCE=1(stomach) 0.623 NA 4.7504066 1185 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 1185 6 32546832 32546832 G A UTR3 HLA-DRB1 NM_002124:c.*36C>T,NM_001243965:c.*36C>T NA NA UTR3 ENSG00000196126 ENST00000360004:c.*36C>T NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs36217728 0.1 0.1 0.074 0.0852636 0.173 0.0298 0.1455 0.0703 0.0297 0.15 0.04 0.15 0.07 0.2624 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010057 NA NA 0.147738 0.094227 ID=COSN167738;OCCURENCE=1(large_intestine) 0.138 NA 4.7501954 1185 12 109577735 109577735 C T exonic ACACB NA synonymous SNV ACACB:NM_001093:exon1:c.C525T:p.S175S exonic ENSG00000076555 NA synonymous SNV ENSG00000076555:ENST00000377848:exon1:c.C525T:p.S175S,ENSG00000076555:ENST00000377854:exon1:c.C525T:p.S175S,ENSG00000076555:ENST00000338432:exon2:c.C525T:p.S175S Score=355;Name=lod=37 NA 12q24.11 NA NA NA NA rs2878960 0.43 0.43 0.434 0.397764 0.6879 0.2589 0.3977 0.2564 0.4335 0.69 0.24 0.45 0.25 0.5578 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 -0.749857 NA NA 0.670814 0.300953 NA 0.341 NA 4.7501526 1185 6 43014298 43014298 T C exonic CUL7 NA synonymous SNV CUL7:NM_001168370:exon11:c.A2691G:p.Q897Q,CUL7:NM_014780:exon11:c.A2439G:p.Q813Q exonic ENSG00000044090 NA synonymous SNV ENSG00000044090:ENST00000265348:exon11:c.A2439G:p.Q813Q,ENSG00000044090:ENST00000535468:exon11:c.A2691G:p.Q897Q Score=620;Name=lod=442 NA 6p21.1 Score=892;Name=V$SPZ1_01 NA NA NA rs9394939 0.81 0.81 0.987 0.990216 0.9722 1 0.9827 0.9992 0.9918 0.79 0.86 0.85 0.77 0.9766 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 1.03843 NA NA 0.967791 0.994553 NA NA NA 4.7500756 1185 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 1185 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 1185 10 99160965 99160965 A G exonic RRP12 NA synonymous SNV RRP12:NM_001145114:exon1:c.T24C:p.P8P,RRP12:NM_015179:exon1:c.T24C:p.P8P exonic ENSG00000052749 NA synonymous SNV ENSG00000052749:ENST00000315563:exon1:c.T24C:p.P8P,ENSG00000052749:ENST00000370992:exon1:c.T24C:p.P8P,ENSG00000052749:ENST00000414986:exon1:c.T24C:p.P8P NA NA 10q24.1 NA Name=Pol2(b),ELK4,TBP,YY1,CTCFL_(SC-98982),Max,YY1_(C-20),c-Myc,Sin3Ak-20,Mxi1_(bHLH),TAF1,NFKB,MEF2A,Pol2-4H8,HEY1,ETS1,USF2,Pol2,USF-1,Pol2(phosphoS2),HDAC2_(SC-6296),CTCF Name=148 NA rs2275091 0.93 0.93 0.923 0.926917 0.9771 0.875 0.9827 0.8896 0.9397 0.98 0.89 0.98 0.89 0.9601 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 1.419331 1.419331 NA 0.979651 0.891285 NA 0.87 NA 4.7498156 1185 3 133185834 133185834 T C intronic BFSP2 NA NA NA intronic ENSG00000170819 NA NA NA NA NA 3q22.1 NA Name=Pol2 Name=19 NA rs2737717 0.47 0.47 0.487 0.502596 0.3897 0.6012 0.4222 0.469 0.6196 0.4 0.61 0.4 0.46 0.4527 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065696 NA NA 0.407907 0.466636 NA 0.42 NA 4.749693 1185 13 109779906 109779906 C T intronic MYO16 NA NA NA exonic ENSG00000041515 NA synonymous SNV ENSG00000041515:ENST00000457511:exon19:c.C2529T:p.P843P NA NA 13q33.3 NA NA Name=3 NA rs3815983 0.34 0.34 0.303 0.319489 0.3618 0.376 0.4323 0.1778 0.3292 0.35 0.39 0.43 0.18 0.3679 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.130676 NA NA 0.354016 0.200682 NA 0.268 NA 4.7496173 1185 18 7011413 7011413 G A exonic LAMA1 NA synonymous SNV LAMA1:NM_005559:exon25:c.C3573T:p.T1191T exonic ENSG00000101680 NA synonymous SNV ENSG00000101680:ENST00000389658:exon25:c.C3573T:p.T1191T NA NA 18p11.31 NA NA NA NA rs619106 0.34 0.34 0.344 0.364617 0.2823 0.12 0.3401 0.7027 0.2618 0.3 0.09 0.38 0.68 0.3366 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.775887 NA NA 0.298209 0.632547 ID=COSM148383;OCCURENCE=1(stomach) 0.442 NA 4.7495576 1185 16 57005301 57005301 C T intronic CETP NA NA NA intronic ENSG00000087237 NA NA NA NA NA 16q13 NA Name=TCF12,Pol2,Pbx3,CTCF_(C-20),NFKB,EBF1_(C-8),PAX5-C20,YY1_(C-20),Rad21,SMC3_(ab9263),PAX5-N19,EBF,YY1 Name=55 NA rs1532625 0.31 0.31 0.284 0.313099 0.4274 0.2907 0.3429 0.1044 0.4796 0.42 0.3 0.35 0.1 0.3959 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074026 NA NA 0.427209 0.154914 NA 0.362 NA 4.749491 1185 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 1185 14 94417586 94417586 G A exonic ASB2 NA synonymous SNV ASB2:NM_016150:exon4:c.C495T:p.C165C,ASB2:NM_001202429:exon6:c.C639T:p.C213C exonic ENSG00000100628 NA synonymous SNV ENSG00000100628:ENST00000556062:exon3:c.C177T:p.C59C,ENSG00000100628:ENST00000315988:exon4:c.C495T:p.C165C,ENSG00000100628:ENST00000555507:exon4:c.C333T:p.C111C,ENSG00000100628:ENST00000555019:exon6:c.C639T:p.C213C Score=505;Name=lod=150 NA 14q32.12 NA NA NA NA rs4483793 0.61 0.61 0.635 0.580072 0.6541 0.7817 0.487 0.4107 0.591 0.64 0.8 0.52 0.41 0.6156 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 0.510985 NA NA 0.648023 0.464821 NA 0.565 NA 4.7489436 1185 12 50452708 50452708 C G exonic ASIC1 NA synonymous SNV ASIC1:NM_001095:exon2:c.C159G:p.S53S,ASIC1:NM_020039:exon2:c.C159G:p.S53S exonic ENSG00000110881 NA synonymous SNV ENSG00000110881:ENST00000228468:exon2:c.C159G:p.S53S,ENSG00000110881:ENST00000447966:exon2:c.C159G:p.S53S,ENSG00000110881:ENST00000550558:exon2:c.C159G:p.S53S NA NA 12q13.12 Score=718;Name=V$NRSF_01 NA Name=3 NA rs653576 0.92 0.92 0.936 0.927516 0.9811 0.8542 0.8775 0.9312 0.9785 0.98 0.85 0.9 0.94 0.9551 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 0.999896 NA NA 0.982093 0.925102 NA 0.87 NA 4.7483736 1185 14 105167807 105167807 C T exonic INF2 NA synonymous SNV INF2:NM_001031714:exon2:c.C105T:p.P35P,INF2:NM_022489:exon2:c.C105T:p.P35P,INF2:NM_032714:exon2:c.C105T:p.P35P exonic ENSG00000203485 NA synonymous SNV ENSG00000203485:ENST00000330634:exon2:c.C105T:p.P35P,ENSG00000203485:ENST00000392634:exon2:c.C105T:p.P35P,ENSG00000203485:ENST00000398337:exon2:c.C105T:p.P35P Score=538;Name=lod=204 NA 14q32.33 NA Name=Pol2 NA NA rs4983530 0.98 0.98 0.983 0.986621 0.9652 1 0.9669 1 0.9908 0.96 1 0.96 1 0.9783 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195762 NA NA 0.975328 0.99637 NA 0.92 NA 4.7478386 1185 15 65678141 65678141 A T intronic IGDCC4 NA NA NA intronic ENSG00000103742 NA NA NA NA NA 15q22.31 NA Name=Sin3Ak-20,PAX5-C20,Max,YY1_(C-20),Rad21,c-Myc,ZNF263,GTF2F1_(RAP-74),BAF155,SMC3_(ab9263),CTCFL_(SC-98982),E2F6,CTCF,Pol2,CTCF_(C-20),Znf143_(16618-1-AP),NFKB,GABP,Pol2-4H8,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 1185 5 79952165 79952165 C G intronic MSH3 NA NA NA intronic ENSG00000113318 NA NA NA NA NA 5q14.1 NA NA Name=3 NA rs1382540 0.21 0.21 0.193 0.230831 0.2525 0.0565 0.2061 0.2821 0.3364 0.25 0.05 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 -0.000852 NA NA NA NA NA 0.225 NA 4.7475 1185 15 55489104 55489104 A G UTR5 RSL24D1 NM_016304:c.-16T>C NA NA UTR5 ENSG00000137876 ENST00000260443:c.-16T>C,ENST00000562993:c.-16T>C NA NA NA NA 15q21.3 NA Name=HEY1,ELF1_(SC-631),ETS1,ATF3,BCLAF1_(M33-P5B11),c-Jun,TAF1,NFKB,Pol2-4H8,MEF2A,GABP,TAF7_(SQ-8),E2F6,GTF2B,Pol2,FOSL2,Pol2(phosphoS2),CHD2_(N-1250),HA-E2F1,GTF2F1_(RAP-74),JunD,ELK4,Pol2(b),CCNT2,TBP,Egr-1,AP-2gamma,BRCA1_(C-1863),CEBPB,AP-2alpha,PU.1,Sin3Ak-20,E2F4,eGFP-JunD,Mxi1_(bHLH),Max,c-Myc,BATF,SP1,IRF1 NA NA rs13733 0.24 0.24 0.262 0.269968 0.1918 0.1379 0.1326 0.5477 0.2086 0.19 0.15 0.13 0.51 0.2046 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.10173 NA NA 0.189539 0.484724 ID=COSN164950;OCCURENCE=1(NS),2(large_intestine) 0.225 NA 4.7473944 1185 17 74290097 74290097 T A exonic QRICH2 NA synonymous SNV QRICH2:NM_032134:exon4:c.A213T:p.S71S exonic ENSG00000129646 NA synonymous SNV ENSG00000129646:ENST00000262765:exon4:c.A213T:p.S71S NA NA 17q25.1 NA NA NA NA rs7225131 0.45 0.45 0.497 0.469649 0.2753 0.5724 0.3098 0.7073 0.3558 0.26 0.58 0.29 0.71 0.3549 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.084805 NA NA 0.289253 0.663488 ID=COSM1179772;OCCURENCE=1(prostate) 0.406 NA 4.7472136 1185 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 1185 6 32805470 32805470 C G intronic TAP2 NA NA NA intronic ENSG00000204267,ENSG00000250264 NA NA NA NA NA 6p21.32 NA Name=E2F6_(H-50) Name=28 NA rs2071465 0.36 0.36 0.373 0.398163 0.4274 0.3353 0.3228 0.4002 0.4836 0.44 0.28 0.33 0.37 0.4067 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245909 NA NA 0.418953 0.409669 NA 0.486 NA 4.746947 1185 6 32709204 32709204 G C UTR5 HLA-DQA2 NM_020056:c.-17G>C NA NA UTR5 ENSG00000237541 ENST00000374940:c.-17G>C NA NA NA NA 6p21.32 NA Name=NFKB,TAF1,Pol2-4H8,Pol2,TBP NA NA rs9276401 0.16 0.16 0.155 0.17492 0.1909 0.0377 0.1369 0.3351 0.1104 0.19 0.03 0.15 0.29 0.1879 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.308061 NA NA 0.207674 0.290513 NA 0.174 NA 4.7468594 1185 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 1185 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 1185 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 1185 10 102795731 102795731 G A intronic SFXN3 NA NA NA intronic ENSG00000107819 NA NA NA NA NA 10q24.31 NA NA Name=3 NA rs76529895 0.04 0.04 0.038 0.0359425 0.1054 0.002 0.0519 0.0068 0.0276 0.1 NA 0.06 0.01 0.0615 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 0.103832 NA 0.43 0.086977 0.018384 NA 0.036 NA 4.746123 1185 19 9090531 9090531 T C exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon1:c.A1284G:p.E428E exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon1:c.A1284G:p.E428E NA NA 19p13.2 NA NA NA NA rs12976721 0.21 0.21 0.21 0.216054 0.3091 0.0228 0.2248 0.27 0.2403 0.31 0.02 0.25 0.26 0.284 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.284912 NA NA 0.327855 0.257064 ID=COSM1129636,COSM1129637;OCCURENCE=1(prostate) 0.268 NA 4.7457116 1185 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 1186 1 196654324 196654324 A C exonic CFH NA synonymous SNV CFH:NM_000186:exon7:c.A921C:p.A307A,CFH:NM_001014975:exon7:c.A921C:p.A307A exonic ENSG00000000971 NA synonymous SNV ENSG00000000971:ENST00000359637:exon6:c.A729C:p.A243A,ENSG00000000971:ENST00000367429:exon7:c.A921C:p.A307A,ENSG00000000971:ENST00000439155:exon7:c.A921C:p.A307A NA Name=Age-related macular degeneration 1q31.3 NA NA NA NA rs1061147 0.7 0.7 0.662 0.713059 0.6382 0.9504 0.7565 0.5688 0.7096 0.63 0.93 0.72 0.55 0.6666 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 0.268893 NA NA 0.617209 0.590331 NA 0.623 NA 4.7446576 1186 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 1186 19 4306311 4306311 T C exonic FSD1 NA synonymous SNV FSD1:NM_024333:exon3:c.T228C:p.R76R exonic ENSG00000105255 NA synonymous SNV ENSG00000105255:ENST00000221856:exon3:c.T228C:p.R76R,ENSG00000105255:ENST00000597590:exon3:c.T228C:p.R76R Score=594;Name=lod=345 NA 19p13.3 NA NA NA NA rs4807578 0.56 0.56 0.553 0.583267 0.663 0.4107 0.6412 0.553 0.6789 0.65 0.4 0.63 0.56 0.6221 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.556831 1.556831 NA 0.637093 0.58897 NA 0.63 NA 4.7444736 1186 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 1186 1 17402255 17402255 C T exonic PADI2 NA synonymous SNV PADI2:NM_007365:exon12:c.G1374A:p.A458A exonic ENSG00000117115 NA synonymous SNV ENSG00000117115:ENST00000444885:exon9:c.G1026A:p.A342A,ENSG00000117115:ENST00000375486:exon12:c.G1374A:p.A458A NA NA 1p36.13 NA Name=CTCF,USF-1 NA NA rs3818032 0.54 0.54 0.552 0.525958 0.6561 0.4028 0.5807 0.4834 0.5378 0.66 0.44 0.59 0.44 0.6133 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 0.873737 NA NA 0.653023 0.54108 NA 0.529 NA 4.7442436 1186 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 1186 18 3173964 3173964 G A exonic MYOM1 NA synonymous SNV MYOM1:NM_003803:exon8:c.C1146T:p.H382H,MYOM1:NM_019856:exon8:c.C1146T:p.H382H exonic ENSG00000101605 NA synonymous SNV ENSG00000101605:ENST00000261606:exon8:c.C1146T:p.H382H,ENSG00000101605:ENST00000356443:exon8:c.C1146T:p.H382H,ENSG00000101605:ENST00000400569:exon8:c.C1146T:p.H382H NA NA 18p11.31 NA NA NA NA rs2230163 0.29 0.29 0.302 0.316094 0.3062 0.2669 0.2262 0.4002 0.3272 0.3 0.25 0.24 0.38 0.301 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.156573 NA NA 0.315681 0.391957 NA 0.333 NA 4.7437856 1186 17 39619093 39619093 G A exonic KRT32 NA synonymous SNV KRT32:NM_002278:exon6:c.C1206T:p.N402N exonic ENSG00000108759 NA synonymous SNV ENSG00000108759:ENST00000225899:exon6:c.C1206T:p.N402N Score=482;Name=lod=121 NA 17q21.2 NA NA NA NA rs2604954 0.55 0.55 0.637 0.615415 0.673 0.6825 0.5706 0.6309 0.498 0.56 0.62 0.47 0.49 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 0.705334 NA NA 0.633837 0.616659 NA NA NA 4.7434296 1186 3 98536571 98536571 T C intronic DCBLD2 NA NA NA intronic ENSG00000057019 NA NA NA NA NA 3q12.1 NA Name=Rad21,SMC3_(ab9263),CTCF,CTCF_(C-20),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 1186 4 88293887 88293887 G A exonic HSD17B11 NA synonymous SNV HSD17B11:NM_016245:exon4:c.C531T:p.V177V exonic ENSG00000198189 NA synonymous SNV ENSG00000198189:ENST00000507286:exon3:c.C399T:p.V133V,ENSG00000198189:ENST00000358290:exon4:c.C531T:p.V177V NA NA 4q22.1 NA NA NA NA rs6531985 0.3 0.3 0.309 0.285343 0.327 0.005 0.2882 0.5764 0.136 0.32 0.01 0.3 0.6 0.2828 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.051179 NA NA 0.313953 0.53813 NA 0.478 NA 4.7429136 1186 11 68206197 68206197 G C intronic LRP5 NA NA NA intronic ENSG00000162337 NA NA NA NA NA 11q13.2 NA NA Name=6 NA rs901825 0.09 0.09 0.085 0.0850639 0.0964 0.0516 0.0562 0.1558 0.0327 0.09 0.04 0.07 0.16 0.0762 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526841 NA NA 0.084773 0.142108 NA 0.116 NA 4.742627 1186 6 51695647 51695647 A T intronic PKHD1 NA NA NA intronic ENSG00000170927 NA NA NA NA NA 6p12.3 NA NA Name=7 NA rs1571084 0.35 0.35 0.358 0.367612 0.4225 0.1012 0.2925 0.6286 0.2863 0.39 0.08 0.32 0.62 0.3861 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.124433 NA NA 0.449186 0.580345 NA 0.37 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082579.1;CLNDSDB=.;CLNDSDBID=. 4.742214 1186 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 1186 8 142446923 142446923 C T exonic MROH5 NA unknown UNKNOWN exonic ENSG00000226807 NA unknown UNKNOWN Score=366;Name=lod=41 NA 8q24.3 NA NA NA NA rs11782383 0.31 0.31 0.294 0.321086 0.4304 0.2698 0.2839 0.2126 0.4346 0.42 0.27 0.31 0.19 0.3926 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.045843 NA NA 0.435266 0.223951 NA 0.319 NA 4.741734 1186 2 212251864 212251864 T C exonic ERBB4 NA synonymous SNV ERBB4:NM_001042599:exon26:c.A3147G:p.V1049V,ERBB4:NM_005235:exon27:c.A3195G:p.V1065V exonic ENSG00000178568 NA synonymous SNV ENSG00000178568:ENST00000436443:exon26:c.A3147G:p.V1049V,ENSG00000178568:ENST00000342788:exon27:c.A3195G:p.V1065V,ENSG00000178568:ENST00000402597:exon27:c.A3165G:p.V1055V NA NA 2q34 NA NA NA NA rs3748962 0.26 0.26 0.241 0.223043 0.2992 0.2887 0.2983 0.0756 0.2229 0.32 0.29 0.31 0.08 0.2954 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.129286 NA NA 0.330581 0.100772 NA 0.21 NA 4.7414856 1186 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 1186 15 42637943 42637943 T C intronic GANC NA NA NA intronic ENSG00000214013 NA NA NA NA NA 15q15.1 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs16973137 0.07 0.07 0.061 0.0944489 0.0845 0.002 0.062 0.1399 0.1616 0.08 0.0035 0.08 0.11 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 0.490925 NA NA 0.080833 0.136859 NA 0.051 NA 4.741267 1186 7 31855578 31855578 G A exonic PDE1C NA synonymous SNV PDE1C:NM_001191056:exon15:c.C1773T:p.N591N,PDE1C:NM_001191057:exon15:c.C1773T:p.N591N,PDE1C:NM_001191058:exon16:c.C1953T:p.N651N,PDE1C:NM_001191059:exon16:c.C1773T:p.N591N,PDE1C:NM_005020:exon16:c.C1773T:p.N591N exonic ENSG00000154678 NA synonymous SNV ENSG00000154678:ENST00000396182:exon15:c.C1773T:p.N591N,ENSG00000154678:ENST00000396191:exon15:c.C1773T:p.N591N,ENSG00000154678:ENST00000321453:exon16:c.C1773T:p.N591N,ENSG00000154678:ENST00000396184:exon16:c.C1773T:p.N591N,ENSG00000154678:ENST00000396193:exon16:c.C1953T:p.N651N NA NA 7p14.3 Score=868;Name=V$IK1_01 NA Name=42 NA rs1860790 0.96 0.96 0.941 0.950679 0.9761 0.9236 0.9827 0.9319 0.955 0.97 0.94 0.98 0.93 0.9696 0.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.194792 NA NA 0.98 0.945075 NA 0.971 NA 4.7409666 1186 17 39967087 39967087 C T intronic LEPREL4 NA NA NA intronic ENSG00000141696 NA NA NA NA NA 17q21.2 NA Name=ZNF263 NA NA rs1469863 0.07 0.07 0.068 0.0706869 0.0934 0.0565 0.0403 0.0552 0.1043 0.1 0.07 0.05 0.03 0.0817 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.416763 NA NA 0.084186 0.059918 NA 0.051 NA 4.740714 1186 15 52539673 52539673 C T exonic MYO5C NA synonymous SNV MYO5C:NM_018728:exon15:c.G1863A:p.R621R exonic ENSG00000128833 NA synonymous SNV ENSG00000128833:ENST00000261839:exon15:c.G1863A:p.R621R Score=444;Name=lod=85 NA 15q21.2 Score=947;Name=V$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 1186 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 1186 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 1186 2 242141719 242141719 C T exonic ANO7 NA synonymous SNV ANO7:NM_001001891:exon8:c.C885T:p.D295D exonic ENSG00000146205 NA synonymous SNV ENSG00000146205:ENST00000274979:exon8:c.C885T:p.D295D,ENSG00000146205:ENST00000402430:exon8:c.C882T:p.D294D Score=409;Name=lod=61 NA 2q37.3 NA NA NA NA rs2074840 0.44 0.44 0.427 0.414736 0.6829 0.0794 0.5086 0.4796 0.3303 0.67 0.06 0.55 0.42 0.5546 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 -1.692462 NA NA 0.689535 0.528824 NA 0.471 NA 4.7396316 1186 14 91161862 91161862 C T exonic TTC7B NA synonymous SNV TTC7B:NM_001010854:exon6:c.G759A:p.T253T exonic ENSG00000165914 NA synonymous SNV ENSG00000165914:ENST00000328459:exon6:c.G759A:p.T253T,ENSG00000165914:ENST00000357056:exon6:c.G759A:p.T253T,ENSG00000165914:ENST00000557766:exon6:c.G519A:p.T173T Score=482;Name=lod=121 NA 14q32.11 NA NA NA NA rs10146731 0.63 0.63 0.63 0.619409 0.6302 0.6885 0.6585 0.4909 0.683 0.65 0.67 0.65 0.55 0.651 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 -0.860793 NA NA 0.645964 0.529959 NA 0.536 NA 4.7395026 1186 19 35793589 35793589 C T exonic MAG NA synonymous SNV MAG:NM_001199216:exon7:c.C1134T:p.T378T,MAG:NM_002361:exon7:c.C1209T:p.T403T,MAG:NM_080600:exon7:c.C1209T:p.T403T exonic ENSG00000105695 NA synonymous SNV ENSG00000105695:ENST00000361922:exon7:c.C1209T:p.T403T,ENSG00000105695:ENST00000392213:exon7:c.C1209T:p.T403T,ENSG00000105695:ENST00000537831:exon7:c.C1134T:p.T378T NA NA 19q13.12 NA NA NA NA rs1126770 0.24 0.24 0.248 0.236222 0.3191 0.1677 0.3271 0.174 0.2413 0.32 0.17 0.28 0.19 0.2834 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.855268 NA NA 0.324884 0.200182 NA 0.167 NA 4.7392826 1186 11 68206173 68206173 T C intronic LRP5 NA NA NA intronic ENSG00000162337 NA NA NA NA NA 11q13.2 NA NA Name=6 NA rs901824 0.09 0.09 0.091 0.0852636 0.0964 0.0516 0.0562 0.1558 0.0337 0.09 0.04 0.07 0.16 0.0786 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.036721 NA NA 0.085821 0.145521 NA 0.116 NA 4.739179 1186 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 1186 15 28414665 28414665 T C exonic HERC2 NA synonymous SNV HERC2:NM_004667:exon66:c.A10194G:p.S3398S exonic ENSG00000128731 NA synonymous SNV ENSG00000128731:ENST00000261609:exon66:c.A10194G:p.S3398S Score=553;Name=lod=235 NA 15q13.1 Score=992;Name=V$GATA_C NA NA NA rs7494786 0.91 0.91 0.906 0.88119 0.9841 0.9831 0.9741 0.711 0.8344 0.98 0.98 0.97 0.69 0.9524 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 -0.699177 NA NA 0.991389 0.777349 NA 0.884 NA 4.7387776 1186 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 1186 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 1186 4 1729425 1729425 C G intronic TACC3 NA NA NA intronic ENSG00000013810 NA NA NA NA NA 4p16.3 NA Name=c-Fos,JunD,STAT3,c-Jun 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 1186 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 1186 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 1186 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 1186 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 1186 15 75499602 75499602 C A exonic C15orf39 NA synonymous SNV C15orf39:NM_015492:exon2:c.C1213A:p.R405R exonic ENSG00000167173 NA synonymous SNV ENSG00000167173:ENST00000567617:exon1:c.C1213A:p.R405R,ENSG00000167173:ENST00000360639:exon2:c.C1213A:p.R405R,ENSG00000167173:ENST00000394987:exon2:c.C1213A:p.R405R NA NA 15q24.2 Score=868;Name=V$GR_Q6 Name=HNF4G_(SC-6558) NA NA rs12591506 0.88 0.88 0.871 0.86861 0.9911 0.7907 0.9654 0.711 0.9673 0.99 0.8 0.96 0.73 0.9482 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 -1.208282 NA NA 0.991153 0.757169 NA 0.841 NA 4.7362136 1186 4 111398208 111398208 A G exonic ENPEP NA nonsynonymous SNV ENPEP:NM_001977:exon1:c.A638G:p.Q213R exonic ENSG00000138792 NA nonsynonymous SNV ENSG00000138792:ENST00000265162:exon1:c.A638G:p.Q213R NA NA 4q25 NA NA NA NA rs10004516 0.86 0.86 0.841 0.847644 0.8569 0.7877 0.9323 0.8812 0.7945 0.84 0.82 0.92 0.9 0.865 0.92 0.19 T 0.154 B 0.124 B 0.711 N 1.000 P 0.43 N 4.27 T -1.091 T 0.000 T 0.029 0.484 6.625 0.091 0.375 -0.243 2.703 0.4838 NA 0.35 0.875669 0.882433 NA 0.804 NA 4.7357644 1186 9 139395311 139395311 G A intronic NOTCH1 NA NA NA intronic ENSG00000148400 NA NA NA NA NA 9q34.3 NA Name=TAF1 NA NA rs11574908 0.04 0.04 0.03 0.0383387 0.0875 0.0198 0.0476 0.0076 0.0419 0.09 0.01 0.04 0.01 0.0965 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 1.172834 NA NA 0.080872 0.017068 NA NA NA 4.735128 1187 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 1187 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 1187 1 205272926 205272926 C T exonic NUAK2 NA synonymous SNV NUAK2:NM_030952:exon7:c.G1539A:p.L513L exonic ENSG00000163545 NA synonymous SNV ENSG00000163545:ENST00000367157:exon7:c.G1539A:p.L513L NA NA 1q32.1 NA NA NA NA rs1106201 0.32 0.32 0.27 0.323083 0.2962 0.4603 0.415 0.1399 0.3916 0.31 0.48 0.36 0.12 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 -1.561968 NA NA 0.29786 0.157286 NA 0.283 NA 4.7343066 1187 1 40735817 40735817 T G intronic ZMPSTE24 NA NA NA intronic ENSG00000084073 NA NA NA NA NA 1p34.2 NA NA NA NA rs16827109 0.09 0.09 0.081 0.115415 0.0746 0.1706 0.121 0.0651 0.1646 0.07 0.15 0.12 0.05 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 1.49862 1.49862 NA 0.08597 0.065395 NA 0.174 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000128747.1;CLNDSDB=.;CLNDSDBID=. 4.73403 1187 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 1187 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 1187 9 86468715 86468715 A T exonic KIF27 NA synonymous SNV KIF27:NM_001271928:exon13:c.T2895A:p.I965I,KIF27:NM_001271927:exon14:c.T2988A:p.I996I,KIF27:NM_017576:exon15:c.T3186A:p.I1062I exonic ENSG00000165115 NA synonymous SNV ENSG00000165115:ENST00000334204:exon13:c.T2895A:p.I965I,ENSG00000165115:ENST00000413982:exon14:c.T2988A:p.I996I,ENSG00000165115:ENST00000297814:exon15:c.T3186A:p.I1062I Score=613;Name=lod=413 NA 9q21.32 NA NA NA NA rs295274 0.63 0.63 0.638 0.653155 0.6581 0.5317 0.4914 0.8321 0.6462 0.66 0.53 0.49 0.81 0.6335 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 0.981429 NA NA 0.641512 0.802088 NA 0.536 NA 4.7335546 1187 16 3811556 3811556 A G intronic CREBBP NA NA NA intronic ENSG00000005339 NA NA NA NA NA 16p13.3 NA Name=USF1_(SC-8983) Name=6 NA rs886528 0.42 0.42 0.428 0.423722 0.4215 0.4077 0.3473 0.5575 0.316 0.4 0.4 0.36 0.52 0.41 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.380565 NA NA 0.435208 0.549658 NA 0.355 NA 4.733292 1187 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 1187 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 1187 19 35770056 35770056 G A intronic USF2 NA NA NA exonic ENSG00000105698 NA nonsynonymous SNV ENSG00000105698:ENST00000594064:exon9:c.G1024A:p.V342I NA NA 19q13.12 NA NA NA NA rs2280746 0.21 0.21 0.197 0.201478 0.1302 0.2242 0.2421 0.2549 0.1503 0.13 0.27 0.25 0.21 0.1838 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.835231 NA NA 0.120144 0.235695 NA 0.21 NA 4.7325227 1187 12 53682326 53682326 G A exonic ESPL1 NA synonymous SNV ESPL1:NM_012291:exon20:c.G4551A:p.G1517G exonic ENSG00000135476 NA synonymous SNV ENSG00000135476:ENST00000257934:exon20:c.G4551A:p.G1517G,ENSG00000135476:ENST00000552462:exon20:c.G4551A:p.G1517G Score=243;Name=lod=13 NA 12q13.13 NA NA NA NA rs1110720 0.63 0.63 0.62 0.645367 0.6382 0.8204 0.6326 0.4327 0.7689 0.62 0.81 0.64 0.43 0.6606 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 0.092565 NA NA 0.635497 0.442805 NA 0.507 NA 4.7323696 1187 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 1187 1 38188880 38188880 C T intronic EPHA10 NA NA NA intronic ENSG00000183317 NA NA NA NA NA 1p34.3 NA NA Name=2 NA rs11582856 0.06 0.06 0.054 0.0447284 0.1083 0.0278 0.0447 0.0174 0.0337 0.1 0.02 0.05 0.03 0.0659 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 0.319049 NA NA 0.093623 0.031727 NA 0.109 NA 4.732177 1187 9 132569553 132569553 C T exonic TOR1B NA synonymous SNV TOR1B:NM_014506:exon3:c.C552T:p.P184P exonic ENSG00000136816 NA synonymous SNV ENSG00000136816:ENST00000259339:exon3:c.C552T:p.P184P NA NA 9q34.11 NA NA NA NA rs1043178 0.18 0.18 0.143 0.167332 0.3161 0.0288 0.2839 0.0537 0.228 0.32 0.02 0.32 0.06 0.2845 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.114323 NA NA 0.333953 0.084657 NA 0.304 NA 4.7321136 1187 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 1187 1 1957037 1957037 T C exonic GABRD NA synonymous SNV GABRD:NM_000815:exon4:c.T330C:p.G110G exonic ENSG00000187730 NA synonymous SNV ENSG00000187730:ENST00000378585:exon4:c.T330C:p.G110G Score=553;Name=lod=235 NA 1p36.33 NA NA NA NA rs2229110 0.59 0.59 0.622 0.561302 0.6809 0.3462 0.5101 0.7474 0.4448 0.68 0.35 0.56 0.76 0.5934 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 1.791508 1.791508 NA 0.660465 0.730822 ID=COSM424897;OCCURENCE=1(breast),1(large_intestine) 0.601 NA 4.7319016 1187 3 35725250 35725250 C T exonic ARPP21 NA synonymous SNV ARPP21:NM_001267618:exon4:c.C204T:p.S68S,ARPP21:NM_001267619:exon4:c.C204T:p.S68S,ARPP21:NM_198399:exon4:c.C204T:p.S68S,ARPP21:NM_001025068:exon5:c.C204T:p.S68S,ARPP21:NM_001025069:exon5:c.C204T:p.S68S,ARPP21:NM_001267616:exon5:c.C204T:p.S68S,ARPP21:NM_001267617:exon5:c.C204T:p.S68S,ARPP21:NM_016300:exon5:c.C204T:p.S68S exonic ENSG00000172995 NA synonymous SNV ENSG00000172995:ENST00000441454:exon3:c.C204T:p.S68S,ENSG00000172995:ENST00000396481:exon4:c.C204T:p.S68S,ENSG00000172995:ENST00000412048:exon4:c.C204T:p.S68S,ENSG00000172995:ENST00000413378:exon4:c.C204T:p.S68S,ENSG00000172995:ENST00000417925:exon4:c.C204T:p.S68S,ENSG00000172995:ENST00000436702:exon4:c.C204T:p.S68S,ENSG00000172995:ENST00000438071:exon4:c.C204T:p.S68S,ENSG00000172995:ENST00000187397:exon5:c.C204T:p.S68S,ENSG00000172995:ENST00000337271:exon5:c.C204T:p.S68S,ENSG00000172995:ENST00000396482:exon5:c.C204T:p.S68S,ENSG00000172995:ENST00000414496:exon5:c.C204T:p.S68S,ENSG00000172995:ENST00000427542:exon5:c.C204T:p.S68S,ENSG00000172995:ENST00000428373:exon5:c.C204T:p.S68S,ENSG00000172995:ENST00000432450:exon5:c.C204T:p.S68S,ENSG00000172995:ENST00000438577:exon5:c.C204T:p.S68S,ENSG00000172995:ENST00000444190:exon5:c.C204T:p.S68S,ENSG00000172995:ENST00000450234:exon5:c.C204T:p.S68S,ENSG00000172995:ENST00000452563:exon5:c.C204T:p.S68S,ENSG00000172995:ENST00000458225:exon5:c.C204T:p.S68S,ENSG00000172995:ENST00000474696:exon5:c.C204T:p.S68S,ENSG00000172995:ENST00000432682:exon6:c.C204T:p.S68S Score=473;Name=lod=112 NA 3p22.3 NA NA NA NA rs969818 0.67 0.67 0.711 0.719848 0.6243 0.6508 0.562 0.8737 0.7935 0.62 0.66 0.57 0.86 0.6633 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 1.497007 1.497007 NA 0.64814 0.838556 NA 0.761 NA 4.7309266 1187 19 9060125 9060125 G A exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.C27321T:p.H9107H exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C27321T:p.H9107H NA NA 19p13.2 NA NA NA NA rs12972088 0.2 0.2 0.21 0.210264 0.3121 0.0099 0.2118 0.2595 0.2444 0.32 0.01 0.22 0.23 0.2853 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196955 NA NA 0.338402 0.244439 NA 0.268 NA 4.7308646 1187 2 209215586 209215586 A G exonic PIKFYVE NA synonymous SNV PIKFYVE:NM_015040:exon37:c.A5526G:p.E1842E exonic ENSG00000115020 NA synonymous SNV ENSG00000115020:ENST00000264380:exon37:c.A5526G:p.E1842E Score=333;Name=lod=30 NA 2q34 NA NA Name=57 NA rs994697 0.94 0.94 0.918 0.911142 0.995 0.9395 0.9769 0.7874 0.9162 1 0.94 0.97 0.81 0.9596 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.112398 NA NA 0.981628 0.805266 NA 0.899 NA 4.7304386 1187 2 209184999 209184999 C T exonic PIKFYVE NA synonymous SNV PIKFYVE:NM_015040:exon17:c.C2106T:p.P702P exonic ENSG00000115020 NA synonymous SNV ENSG00000115020:ENST00000452564:exon16:c.C1938T:p.P646P,ENSG00000115020:ENST00000264380:exon17:c.C2106T:p.P702P Score=676;Name=lod=744 NA 2q34 Score=875;Name=V$TATA_01 NA NA NA rs10932259 0.94 0.94 0.913 0.911542 0.995 0.9395 0.9769 0.789 0.9162 1 0.94 0.97 0.81 0.9598 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.914515 NA NA 0.981581 0.8064 NA 0.906 NA 4.7302856 1187 X 12939112 12939112 G C exonic TLR8 NA synonymous SNV TLR8:NM_138636:exon2:c.G1953C:p.L651L exonic ENSG00000101916 NA synonymous SNV ENSG00000101916:ENST00000218032:exon2:c.G1953C:p.L651L,ENSG00000101916:ENST00000311912:exon3:c.G2007C:p.L669L NA NA Xp22.2 NA NA NA NA rs2407992 0.66 0.66 0.66614 NA NA NA NA NA NA 0.39 0.79 0.67 0.94 0.5418 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 -2.288717 NA NA 0.394588 0.883181 NA 0.428 NA 4.7302786 1187 20 3147762 3147762 A G exonic LZTS3 NA synonymous SNV LZTS3:NM_014731:exon1:c.T48C:p.D16D exonic ENSG00000088899 NA synonymous SNV ENSG00000088899:ENST00000329152:exon1:c.T48C:p.D16D,ENSG00000088899:ENST00000337576:exon1:c.T48C:p.D16D,ENSG00000088899:ENST00000360342:exon3:c.T48C:p.D16D Score=460;Name=lod=99 NA 20p13 Score=826;Name=V$EVI1_04 NA NA NA rs6051612 0.94 0.94 0.94 0.942292 0.9801 0.9425 0.9654 0.882 0.9683 0.98 0.96 0.96 0.86 0.9723 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 1.719317 1.719317 NA 0.984696 0.894253 NA 0.935 NA 4.7295706 1187 19 9057704 9057704 G T exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon3:c.C29742A:p.I9914I exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon3:c.C29742A:p.I9914I NA NA 19p13.2 NA NA NA NA rs12984130 0.21 0.21 0.222 0.208866 0.3121 0.0258 0.219 0.2352 0.2485 0.32 0.02 0.23 0.25 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 -0.238315 NA NA 0.338745 0.230419 NA 0.254 NA 4.7295216 1187 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 1187 6 137540370 137540370 A G intronic IFNGR1 NA NA NA intronic ENSG00000027697 NA NA NA NA NA 6q23.3 NA Name=HEY1,Pol2-4H8,POU2F2,Pol2,CHD2_(N-1250),TBP,Sin3Ak-20,Oct-2 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 1187 1 236744712 236744712 C A exonic HEATR1 NA synonymous SNV HEATR1:NM_018072:exon20:c.G2565T:p.V855V exonic ENSG00000119285 NA synonymous SNV ENSG00000119285:ENST00000366581:exon20:c.G2565T:p.V855V,ENSG00000119285:ENST00000366582:exon20:c.G2565T:p.V855V Score=422;Name=lod=69 NA 1q43 NA NA NA NA rs4518892 0.48 0.48 0.425 0.414736 0.671 0.4762 0.4957 0.1316 0.4131 0.67 0.49 0.53 0.15 0.5896 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.251873 1.251873 NA 0.677326 0.217204 ID=COSM146833;OCCURENCE=1(stomach) 0.536 NA 4.7287406 1187 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 1187 22 39440149 39440149 C T exonic APOBEC3F NA nonsynonymous SNV APOBEC3F:NM_001006666:exon3:c.C233T:p.A78V exonic ENSG00000128394 NA nonsynonymous SNV ENSG00000128394:ENST00000381565:exon3:c.C233T:p.A78V NA NA 22q13.1 NA NA NA NA rs5750728 0.51 0.51 0.477 0.5 0.4911 0.7093 0.6239 0.202 0.6084 0.47 0.71 0.65 0.22 0.5862 0.71 0.1 T 0.023 B 0.006 B . . 1.000 P . . 2.28 T -1.026 T 0.000 T 0.039 0.437 6.374 0.235 0.308 -0.356 . 0.437123 NA 0.13 0.527972 0.260502 NA 0.428 NA 4.7280614 1187 19 44571154 44571154 T C exonic ZNF223 NA synonymous SNV ZNF223:NM_013361:exon5:c.T1173C:p.H391H exonic ENSG00000178386,ENSG00000267022 NA synonymous SNV ENSG00000178386:ENST00000434772:exon5:c.T1173C:p.H391H,ENSG00000267022:ENST00000591793:exon7:c.T1503C:p.H501H Score=304;Name=lod=23 NA 19q13.31 NA NA NA NA rs4433920 0.43 0.43 0.429 0.414337 0.6839 0.3006 0.3718 0.1498 0.6421 0.69 0.33 0.42 0.14 0.5745 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 1.827107 1.827107 NA 0.680698 0.235361 NA 0.5 NA 4.7275686 1187 2 220283277 220283277 T C exonic DES NA synonymous SNV DES:NM_001927:exon1:c.T93C:p.S31S exonic ENSG00000175084 NA synonymous SNV ENSG00000175084:ENST00000373960:exon1:c.T93C:p.S31S Score=539;Name=lod=206 NA 2q35 NA NA NA NA rs2017800 0.9 0.9 0.894 0.866014 0.9901 0.999 0.9524 0.5431 0.9765 0.99 1 0.96 0.6 0.9611 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.785029 1.785029 NA 0.98798 0.669196 NA 0.406 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Cardiomyopathy|not_specified|not_provided;CLNREVSTAT=single|mult|single;CLNACC=RCV000029661.1|RCV000037256.3|RCV000124669.1;CLNDSDB=MedGen:SNOMED_CT|.|.;CLNDSDBID=C0878544:85898001|.|. 4.7274866 1187 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 1187 20 31673983 31673983 C T intronic BPIFB4 NA NA NA intronic ENSG00000186191 NA NA NA NA NA 20q11.21 NA Name=c-Jun,JunD NA NA rs41305787 0.07 0.07 0.076 0.0628994 0.0895 0.0466 0.0519 0.0666 0.0552 0.09 0.05 0.06 0.05 0.0787 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 -0.898032 NA NA 0.104767 0.071039 NA 0.065 NA 4.727033 1187 9 79827964 79827964 G C intronic VPS13A NA NA NA intronic ENSG00000197969 NA NA NA NA NA 9q21.2 NA Name=FOXA1_(SC-101058),FOXA1_(C-20),FOXA2_(SC-6554) 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 1187 17 42854610 42854610 T C exonic ADAM11 NA synonymous SNV ADAM11:NM_002390:exon21:c.T1758C:p.S586S exonic ENSG00000073670 NA synonymous SNV ENSG00000073670:ENST00000587773:exon18:c.T1440C:p.S480S,ENSG00000073670:ENST00000200557:exon21:c.T1758C:p.S586S,ENSG00000073670:ENST00000535346:exon21:c.T1158C:p.S386S NA NA 17q21.31 Score=852;Name=V$HAND1E47_01 NA NA NA rs8075210 0.65 0.65 0.657 0.645367 0.6769 0.7698 0.6931 0.447 0.7188 0.67 0.78 0.67 0.45 0.6412 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 -0.402314 NA NA 0.622558 0.49773 NA 0.645 NA 4.7260086 1187 20 9523379 9523379 A G intronic PAK7 NA NA NA intronic ENSG00000101349 NA NA NA Score=522;Name=lod=177 NA 20p12.2 NA NA NA NA rs41275620 0.16 0.16 0.146 0.165335 0.0726 0.1994 0.0648 0.3079 0.1043 0.07 0.21 0.08 0.3 0.113 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.690477 NA NA 0.088953 0.274626 NA 0.188 NA 4.725447 1187 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 1187 14 22636737 22636737 G A intergenic OR4E2,DAD1 dist=502499;dist=397070 NA NA exonic ENSG00000259092 NA nonsynonymous SNV ENSG00000259092:ENST00000557168:exon2:c.G190A:p.V64I NA NA 14q11.2 NA NA NA NA rs35790745 0.04 0.04 0.025 0.029353 0.0239 0.0119 0.1383 0.003 0.0112 0.03 0.01 0.13 0.01 0.0453 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.639174 NA 0.57 0.039002 0.008197 NA 0.022 NA 4.7251314 1187 13 47273458 47273458 G C intronic LRCH1 NA NA NA intronic ENSG00000136141 NA NA NA Score=321;Name=lod=27 NA 13q14.13 NA Name=GATA-1 Name=55 NA rs706621 0.81 0.81 0.813 0.817093 0.7704 0.8393 0.7853 0.8593 0.8078 0.76 0.83 0.77 0.89 0.7626 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 1.241921 1.241921 NA 0.741977 0.832728 NA 0.812 NA 4.725023 1188 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 1188 2 73675669 73675669 T G exonic ALMS1 NA nonsynonymous SNV ALMS1:NM_015120:exon8:c.T2012G:p.V671G exonic ENSG00000116127 NA nonsynonymous SNV ENSG00000116127:ENST00000409009:exon7:c.T1886G:p.V629G,ENSG00000116127:ENST00000264448:exon8:c.T2012G:p.V671G,ENSG00000116127:ENST00000377715:exon8:c.T2012G:p.V671G NA NA 2p13.1 NA NA NA NA rs2037814 0.86 0.86 0.863 0.872204 0.8757 0.7917 0.9438 0.9145 0.8436 0.87 0.77 0.92 0.91 0.8627 0.92 0.24 T 0.0 B 0.0 B 0.543 N 1.000 P -0.895 N 3.44 T -1.070 T 0.000 T 0.195 0.346 5.876 0.151 -0.196 -0.550 1.131 0.34578 NA 0.14 0.870514 0.902191 NA 0.87 NA 4.7244194 1188 1 161017556 161017556 C T exonic ARHGAP30 NA synonymous SNV ARHGAP30:NM_001025598:exon12:c.G3255A:p.R1085R,ARHGAP30:NM_181720:exon13:c.G2622A:p.R874R exonic ENSG00000186517 NA synonymous SNV ENSG00000186517:ENST00000368015:exon8:c.G2724A:p.R908R,ENSG00000186517:ENST00000368013:exon12:c.G3255A:p.R1085R,ENSG00000186517:ENST00000368016:exon13:c.G2622A:p.R874R NA NA 1q23.3 NA NA NA NA rs2774279 0.21 0.21 0.21 0.218251 0.333 0.1389 0.2003 0.1422 0.2975 0.32 0.12 0.23 0.14 0.2772 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.037057 NA NA 0.332093 0.192011 NA 0.159 NA 4.7243736 1188 7 35841886 35841886 A G intronic SEPT7 NA NA NA intronic ENSG00000122545 NA NA NA NA NA 7p14.2 NA NA Name=8 NA rs74849143 0.12 0.12 0.123 0.135783 0.0885 0.1429 0.1066 0.1172 0.2229 0.09 0.16 0.08 0.13 0.1113 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330065 NA NA 0.075932 0.107951 NA 0.065 NA 4.724268 1188 1 9011537 9011537 G A intronic CA6 NA NA NA exonic ENSG00000131686 NA synonymous SNV ENSG00000131686:ENST00000319474:exon3:c.G315A:p.A105A,ENSG00000131686:ENST00000480186:exon3:c.G315A:p.A105A NA NA 1p36.23 NA NA Name=3 NA rs7540307 0.27 0.27 0.229 0.232029 0.3917 0.13 0.3545 0.1256 0.2301 0.37 0.15 0.37 0.17 0.3259 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.267111 NA NA 0.392014 0.17637 NA 0.196 NA 4.7237193 1188 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=BATF,EBF1_(C-8),TCF12 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 1188 1 231377081 231377081 C T UTR5 GNPAT NM_014236:c.-44C>T NA NA UTR5 ENSG00000116906 ENST00000436239:c.-44C>T,ENST00000366647:c.-44C>T,ENST00000366646:c.-44C>T,ENST00000416000:c.-44C>T NA NA NA NA 1q42.2 NA Name=NRSF,IRF1,TCF4,YY1_(C-20),ZNF263,YY1,AP-2alpha,TBP,CCNT2,AP-2gamma,GTF2B,HA-E2F1,Pol2,HEY1,ELF1_(SC-631),Pol2-4H8,GABP,HMGN3,TAF1 Name=147 NA rs518686 0.55 0.55 0.554 0.581869 0.5229 0.63 0.621 0.531 0.6339 0.5 0.61 0.6 0.53 0.549 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.232118 NA NA 0.538256 0.575579 NA 0.587 NA 4.7231774 1188 11 66995603 66995603 T C exonic KDM2A NA synonymous SNV KDM2A:NM_012308:exon11:c.T1053C:p.T351T exonic ENSG00000173120 NA synonymous SNV ENSG00000173120:ENST00000398645:exon11:c.T1053C:p.T351T,ENSG00000173120:ENST00000529006:exon11:c.T1053C:p.T351T Score=654;Name=lod=604 NA 11q13.2 Score=753;Name=V$LUN1_01 NA NA NA rs3741189 0.94 0.94 0.938 0.944888 0.9811 0.9425 0.9553 0.8865 0.9816 0.98 0.94 0.96 0.86 0.973 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 0.513418 NA NA 0.989568 0.901221 NA 0.92 NA 4.7229986 1188 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 1188 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 1188 18 74671768 74671768 T C exonic ZNF236 NA synonymous SNV ZNF236:NM_007345:exon29:c.T5232C:p.H1744H exonic ENSG00000130856 NA synonymous SNV ENSG00000130856:ENST00000253159:exon29:c.T5232C:p.H1744H,ENSG00000130856:ENST00000320610:exon29:c.T5238C:p.H1746H Score=581;Name=lod=307 NA 18q23 NA NA NA NA rs470403 0.61 0.61 0.577 0.587061 0.6372 0.6587 0.6369 0.4448 0.6186 0.65 0.66 0.63 0.49 0.6387 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 0.333297 NA NA 0.66866 0.496517 NA 0.428 NA 4.7221066 1188 2 128495645 128495645 G A intronic WDR33 NA NA NA intronic ENSG00000136709 NA NA NA NA NA 2q14.3 NA Name=BATF,CEBPB Name=20 NA rs6754215 0.45 0.45 0.47 0.509585 0.4374 0.3571 0.3718 0.6649 0.6288 0.41 0.37 0.37 0.66 0.4406 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 -0.351982 NA NA 0.40017 0.630058 NA 0.565 NA 4.72183 1188 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 1188 19 16611978 16611978 T C exonic C19orf44 NA synonymous SNV C19orf44:NM_032207:exon2:c.T375C:p.A125A exonic ENSG00000105072 NA synonymous SNV ENSG00000105072:ENST00000221671:exon2:c.T375C:p.A125A,ENSG00000105072:ENST00000593380:exon2:c.T375C:p.A125A,ENSG00000105072:ENST00000594035:exon2:c.T375C:p.A125A,ENSG00000105072:ENST00000596592:exon2:c.T375C:p.A125A NA NA 19p13.11 NA NA NA NA rs728116 0.35 0.35 0.341 0.365415 0.3221 0.1736 0.3386 0.6407 0.2546 0.32 0.15 0.34 0.62 0.3162 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42657 NA NA 0.30686 0.60985 NA 0.536 NA 4.7215066 1188 1 53387379 53387379 G C UTR5 ECHDC2 NM_001198962:c.-34C>G,NM_001198961:c.-34C>G,NM_018281:c.-34C>G NA NA UTR5 ENSG00000121310 ENST00000371522:c.-34C>G,ENST00000358358:c.-34C>G,ENST00000536120:c.-9934C>G,ENST00000476477:c.-34C>G,ENST00000467988:c.-34C>G,ENST00000544365:c.-34C>G,ENST00000542552:c.-34C>G NA NA NA NA 1p32.3 NA Name=TBP,CtBP2,NFKB,Znf143_(16618-1-AP),CTCF_(C-20),ZEB1_(SC-25388),TAF1,Pol2-4H8,CTCF_(SC-5916),MEF2A,GABP,NANOG_(SC-33759),HNF4G_(SC-6558),HEY1,ZNF263,HNF4A,ELF1_(SC-631),SMC3_(ab9263),Pol2,TCF4,HA-E2F1,c-Myc,Rad21,CTCF Name=129 NA rs7552139 0.34 0.34 0.36 0.341054 0.5805 0.0198 0.3329 0.3018 0.4847 0.58 0.02 0.39 0.3 0.5297 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.933093 NA NA 0.502173 0.293473 NA 0.312 NA 4.7209604 1188 6 46802370 46802370 G A exonic MEP1A NA synonymous SNV MEP1A:NM_005588:exon12:c.G1665A:p.T555T exonic ENSG00000112818 NA synonymous SNV ENSG00000112818:ENST00000230588:exon12:c.G1665A:p.T555T NA NA 6p12.3 NA Name=JunD,MafF_(M8194),c-Jun,MafK_(ab50322) NA NA rs4714952 0.66 0.66 0.677 0.71226 0.6292 0.4821 0.7219 0.907 0.7648 0.65 0.45 0.7 0.9 0.6697 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 -0.124395 NA NA 0.64686 0.856105 NA 0.659 NA 4.7209066 1188 14 103574714 103574714 C T intronic EXOC3L4 NA NA NA intronic ENSG00000205436 NA NA NA NA NA 14q32.32 NA Name=E2F6,E2F6_(H-50) Name=8 NA rs10144543 0.5 0.5 0.484 0.505591 0.4006 0.5694 0.5375 0.5174 0.5092 0.39 0.58 0.58 0.5 0.462 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591273 NA NA 0.416512 0.518838 NA 0.449 NA 4.720888 1188 19 16612011 16612011 T C exonic C19orf44 NA synonymous SNV C19orf44:NM_032207:exon2:c.T408C:p.S136S exonic ENSG00000105072 NA synonymous SNV ENSG00000105072:ENST00000221671:exon2:c.T408C:p.S136S,ENSG00000105072:ENST00000593380:exon2:c.T408C:p.S136S,ENSG00000105072:ENST00000594035:exon2:c.T408C:p.S136S,ENSG00000105072:ENST00000596592:exon2:c.T408C:p.S136S NA NA 19p13.11 NA NA NA NA rs728117 0.35 0.35 0.334 0.366414 0.3221 0.1736 0.3415 0.643 0.2546 0.32 0.15 0.34 0.62 0.3168 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.046315 NA NA 0.307209 0.612347 NA 0.536 NA 4.7205576 1188 20 10620386 10620386 A G exonic JAG1 NA synonymous SNV JAG1:NM_000214:exon26:c.T3417C:p.Y1139Y exonic ENSG00000101384 NA synonymous SNV ENSG00000101384:ENST00000423891:exon24:c.T2940C:p.Y980Y,ENSG00000101384:ENST00000254958:exon26:c.T3417C:p.Y1139Y Score=612;Name=lod=410 NA 20p12.2 NA NA NA NA rs1051419 0.67 0.67 0.682 0.71266 0.6481 0.494 0.6326 0.9289 0.7689 0.66 0.46 0.67 0.92 0.6592 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 -0.902978 NA NA 0.63907 0.899228 ID=COSM149140;OCCURENCE=1(stomach) 0.746 NA 4.7202966 1188 3 49273996 49273996 C T exonic CCDC36 NA synonymous SNV CCDC36:NM_001135197:exon3:c.C72T:p.S24S,CCDC36:NM_178173:exon5:c.C72T:p.S24S exonic ENSG00000173421 NA synonymous SNV ENSG00000173421:ENST00000451634:exon2:c.C42T:p.S14S,ENSG00000173421:ENST00000366429:exon3:c.C72T:p.S24S,ENSG00000173421:ENST00000438782:exon3:c.C72T:p.S24S,ENSG00000173421:ENST00000452691:exon3:c.C72T:p.S24S,ENSG00000173421:ENST00000296449:exon5:c.C72T:p.S24S Score=552;Name=lod=234 NA 3p21.31 NA NA NA NA rs12631989 0.68 0.68 0.65 0.705471 0.6431 0.9415 0.7089 0.4281 0.8988 0.64 0.93 0.69 0.44 0.6877 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 -0.726418 NA NA 0.615581 0.452111 NA 0.565 NA 4.7202856 1188 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 1188 14 91883967 91883967 G T intronic CCDC88C NA NA NA intronic ENSG00000015133 NA NA NA Score=574;Name=lod=288 NA 14q32.11 NA NA Name=43 NA rs3742654 0.39 0.39 0.34 0.363219 0.4453 0.4008 0.3156 0.2708 0.3988 0.47 0.39 0.31 0.33 0.4364 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.683541 NA NA 0.398748 0.260641 NA 0.203 NA 4.719552 1188 17 37070658 37070658 A G exonic LASP1 NA synonymous SNV LASP1:NM_001271608:exon4:c.A270G:p.S90S,LASP1:NM_006148:exon5:c.A438G:p.S146S exonic ENSG00000002834 NA synonymous SNV ENSG00000002834:ENST00000579123:exon1:c.A9G:p.S3S,ENSG00000002834:ENST00000433206:exon4:c.A270G:p.S90S,ENSG00000002834:ENST00000318008:exon5:c.A438G:p.S146S,ENSG00000002834:ENST00000419929:exon5:c.A330G:p.S110S,ENSG00000002834:ENST00000435347:exon5:c.A438G:p.S146S Score=309;Name=lod=24 NA 17q12 NA NA NA NA rs525989 0.68 0.68 0.675 0.676717 0.6471 0.5933 0.5519 0.9175 0.5562 0.66 0.59 0.58 0.9 0.6445 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 -0.464843 NA NA 0.655581 0.864896 ID=COSM436474;OCCURENCE=2(breast),1(large_intestine) 0.754 NA 4.7194856 1188 15 90293776 90293776 A C exonic MESP1 NA synonymous SNV MESP1:NM_018670:exon1:c.T687G:p.P229P exonic ENSG00000166823 NA synonymous SNV ENSG00000166823:ENST00000300057:exon1:c.T687G:p.P229P NA NA 15q26.1 Score=819;Name=V$STAT5A_02 NA NA NA rs2305441 0.54 0.54 0.595 0.588658 0.6074 0.2609 0.4568 0.8578 0.637 0.6 0.26 0.52 0.8 0.637 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 0.673092 NA NA 0.702925 0.837931 NA 0.072 NA 4.7193416 1188 19 9049726 9049726 G A exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon5:c.C31905T:p.D10635D exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon5:c.C31905T:p.D10635D NA NA 19p13.2 NA NA NA NA rs11670328 0.25 0.25 0.251 0.249002 0.337 0.2351 0.2233 0.1558 0.317 0.33 0.2 0.25 0.18 0.2873 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327573 NA NA 0.323057 0.175689 NA 0.225 NA 4.7193096 1188 1 145588536 145588536 C T intronic NBPF10,NUDT17 NA NA NA intronic ENSG00000186364 NA NA NA NA NA 1q21.1 NA Name=CTCF,USF2,Pol2,USF-1 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 1188 5 3599320 3599320 A G intronic IRX1 NA NA NA ncRNA_intronic ENSG00000259603 NA NA NA NA NA 5p15.33 NA NA Name=15 NA rs861185 0.22 0.22 0.203 0.23762 0.1819 0.2252 0.3501 0.2496 0.2117 0.2 0.17 0.31 0.26 0.2439 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.319155 NA NA 0.188649 0.246252 NA 0.333 NA 4.7188843 1188 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 1188 3 38945560 38945560 A G exonic SCN11A NA synonymous SNV SCN11A:NM_014139:exon12:c.T1638C:p.C546C exonic ENSG00000168356 NA synonymous SNV ENSG00000168356:ENST00000302328:exon12:c.T1638C:p.C546C,ENSG00000168356:ENST00000444237:exon12:c.T1638C:p.C546C,ENSG00000168356:ENST00000450244:exon12:c.T1638C:p.C546C,ENSG00000168356:ENST00000456224:exon12:c.T1638C:p.C546C Score=309;Name=lod=24 NA 3p22.2 NA NA NA NA rs4073113 0.6 0.6 0.583 0.61242 0.6471 0.6369 0.6888 0.4864 0.6677 0.65 0.62 0.66 0.47 0.6515 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 -0.672979 NA NA 0.650465 0.523377 NA 0.659 NA 4.7176016 1188 1 40881840 40881840 G A intronic SMAP2 NA NA NA intronic ENSG00000084070 NA NA NA Score=491;Name=lod=132 NA 1p34.2 NA NA NA NA rs1007263 0.09 0.09 0.094 0.0948482 0.0895 0.1766 0.049 0.0401 0.1227 0.1 0.16 0.04 0.04 0.0998 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.022169 2.022169 NA 0.093256 0.054244 NA 0.181 NA 4.717444 1188 2 54858511 54858511 C T exonic SPTBN1 NA synonymous SNV SPTBN1:NM_178313:exon15:c.C3288T:p.N1096N,SPTBN1:NM_003128:exon16:c.C3327T:p.N1109N exonic ENSG00000115306 NA synonymous SNV ENSG00000115306:ENST00000333896:exon15:c.C3288T:p.N1096N,ENSG00000115306:ENST00000356805:exon16:c.C3327T:p.N1109N NA NA 2p16.2 NA NA NA NA rs1052788 0.27 0.27 0.228 0.240415 0.336 0.2788 0.3343 0.0431 0.3027 0.37 0.27 0.31 0.07 0.309 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.489252 NA NA 0.304302 0.08897 ID=COSM148857;OCCURENCE=1(stomach) 0.203 NA 4.7173646 1188 11 75279846 75279846 C T exonic SERPINH1 NA synonymous SNV SERPINH1:NM_001235:exon3:c.C693T:p.T231T,SERPINH1:NM_001207014:exon4:c.C693T:p.T231T exonic ENSG00000149257 NA synonymous SNV ENSG00000149257:ENST00000525876:exon1:c.C42T:p.T14T,ENSG00000149257:ENST00000358171:exon3:c.C693T:p.T231T,ENSG00000149257:ENST00000524558:exon3:c.C693T:p.T231T,ENSG00000149257:ENST00000526397:exon3:c.C693T:p.T231T,ENSG00000149257:ENST00000525611:exon4:c.C693T:p.T231T,ENSG00000149257:ENST00000530284:exon4:c.C693T:p.T231T,ENSG00000149257:ENST00000532356:exon4:c.C693T:p.T231T,ENSG00000149257:ENST00000533603:exon4:c.C693T:p.T231T NA NA 11q13.5 NA NA NA NA rs649257 0.32 0.32 0.317 0.376997 0.2972 0.2103 0.379 0.4766 0.4949 0.29 0.19 0.39 0.47 0.3476 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.875204 NA NA 0.304682 0.444091 ID=COSM147291;OCCURENCE=1(stomach) 0.449 NA 4.7171846 1188 14 63174616 63174616 T C exonic KCNH5 NA synonymous SNV KCNH5:NM_139318:exon11:c.A2577G:p.R859R exonic ENSG00000140015 NA synonymous SNV ENSG00000140015:ENST00000322893:exon11:c.A2577G:p.R859R Score=385;Name=lod=49 NA 14q23.2 Score=836;Name=V$NKX61_01 NA NA NA rs7161127 0.93 0.93 0.912 0.924321 0.9871 1 0.9568 0.7595 0.9816 0.98 1 0.96 0.75 0.972 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949124 NA NA 0.990465 0.803904 NA 0.884 NA 4.7171016 1188 17 60324448 60324448 C T intergenic MED13,TBC1D3P2 dist=181805;dist=17619 NA NA ncRNA_exonic ENSG00000266365 NA NA NA Score=690;Name=lod=851 NA 17q23.2 NA NA NA NA rs12325728 0.34 0.34 0.329 0.295927 0.2833 0.5506 0.3141 0.1619 0.2147 0.28 0.55 0.3 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 -0.419 NA NA NA NA NA 0.254 NA 4.7167 1188 11 130780015 130780015 C T exonic SNX19 NA synonymous SNV SNX19:NM_014758:exon4:c.G1932A:p.P644P exonic ENSG00000120451 NA synonymous SNV ENSG00000120451:ENST00000265909:exon4:c.G1932A:p.P644P,ENSG00000120451:ENST00000528555:exon4:c.G72A:p.P24P,ENSG00000120451:ENST00000533214:exon4:c.G1932A:p.P644P,ENSG00000120451:ENST00000530356:exon5:c.G72A:p.P24P,ENSG00000120451:ENST00000539184:exon5:c.G261A:p.P87P Score=625;Name=lod=464 NA 11q24.3 NA NA NA NA rs1781 0.55 0.55 0.519 0.576877 0.6342 0.6448 0.6686 0.2436 0.8333 0.64 0.63 0.65 0.25 0.6553 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 1.237756 1.237756 NA 0.661043 0.324171 NA 0.478 NA 4.7161236 1188 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 1188 19 5661517 5661517 A G intronic SAFB NA NA NA exonic ENSG00000160633 NA synonymous SNV ENSG00000160633:ENST00000589006:exon2:c.A42G:p.L14L NA NA 19p13.3 NA NA NA NA rs76416901 0.03 0.03 0.031 0.0205671 0.0427 0.0327 0.0288 0.0038 0.002 0.04 0.02 0.04 0.01 0.0332 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 0.024567 NA NA 0.041881 0.013409 NA NA NA 4.7155523 1188 18 76870347 76870347 T G intronic ATP9B NA NA NA intronic ENSG00000166377 NA NA NA NA NA 18q23 Score=1000;Name=V$SRY_01 NA NA NA rs617890 0.12 0.12 0.124 0.116613 0.1034 0.0228 0.0749 0.2927 0.0184 0.1 0.02 0.07 0.3 0.0876 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.342561 NA NA 0.093953 0.273264 NA 0.167 NA 4.715047 1189 15 65621857 65621857 T C exonic IGDCC3 NA synonymous SNV IGDCC3:NM_004884:exon13:c.A2076G:p.L692L exonic ENSG00000174498 NA synonymous SNV ENSG00000174498:ENST00000327987:exon13:c.A2076G:p.L692L Score=428;Name=lod=73 NA 15q22.31 Score=873;Name=V$YY1_01 NA NA NA rs509652 0.97 0.97 0.964 0.969649 0.9861 1 0.9755 0.9085 1 0.99 1 0.96 0.92 0.9818 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603877 NA NA 0.9838 0.915756 NA 0.949 NA 4.7149666 1189 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 1189 13 31821992 31821992 T C exonic B3GALTL NA synonymous SNV B3GALTL:NM_194318:exon6:c.T348C:p.H116H exonic ENSG00000187676 NA synonymous SNV ENSG00000187676:ENST00000343307:exon6:c.T348C:p.H116H Score=555;Name=lod=240 NA 13q12.3 NA NA NA NA rs4943266 0.97 0.97 0.963 0.975439 0.9871 1 0.9957 0.9206 0.998 0.99 1 1 0.88 0.9828 1 NA NA 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 0.982081 0.928701 NA 0.971 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082788.1;CLNDSDB=.;CLNDSDBID=. 4.7146856 1189 7 48336844 48336844 C T exonic ABCA13 NA synonymous SNV ABCA13:NM_152701:exon22:c.C9135T:p.L3045L exonic ENSG00000179869 NA synonymous SNV ENSG00000179869:ENST00000435803:exon22:c.C9135T:p.L3045L NA NA 7p12.3 NA NA Name=13 NA rs6583546 0.75 0.75 0.745 0.76897 0.5934 0.9881 0.7781 0.7035 0.8057 0.58 0.99 0.76 0.71 0.7253 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 -2.060624 NA NA 0.633406 0.683596 NA 0.804 NA 4.7145606 1189 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 1189 12 52282060 52282060 C T exonic ANKRD33 NA synonymous SNV ANKRD33:NM_182608:exon1:c.C90T:p.R30R exonic ENSG00000167612 NA synonymous SNV ENSG00000167612:ENST00000301190:exon1:c.C90T:p.R30R,ENSG00000167612:ENST00000549751:exon1:c.C90T:p.R30R NA NA 12q13.13 NA NA NA NA rs697634 0.33 0.33 0.303 0.331669 0.2952 0.4117 0.451 0.149 0.4489 0.31 0.45 0.41 0.15 0.346 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.322579 NA NA 0.311163 0.154562 NA 0.362 NA 4.7143036 1189 4 8228948 8228948 T C exonic SH3TC1 NA synonymous SNV SH3TC1:NM_018986:exon12:c.T1527C:p.P509P exonic ENSG00000125089 NA synonymous SNV ENSG00000125089:ENST00000245105:exon12:c.T1527C:p.P509P,ENSG00000125089:ENST00000539824:exon12:c.T1299C:p.P433P NA NA 4p16.1 NA NA NA NA rs55642964 0.27 0.27 0.215 0.229633 0.3211 0.3274 0.2723 0.0749 0.2137 0.33 0.34 0.29 0.09 0.3206 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.245651 NA NA 0.310666 0.115367 NA 0.312 NA 4.7143006 1189 21 39870310 39870310 G A UTR5 ERG NM_182918:c.-6C>T,NM_001136155:c.-74867C>T NA NA UTR5 ENSG00000157554 ENST00000288319:c.-6C>T,ENST00000398907:c.-6C>T,ENST00000398905:c.-6C>T,ENST00000453032:c.-74867C>T,ENST00000429727:c.-6C>T NA NA Score=716;Name=lod=1082 NA 21q22.2 NA Name=Pol2 Name=8 NA rs2836441 0.88 0.88 0.887 0.890775 0.8887 0.8442 0.8444 0.9546 0.8875 0.88 0.83 0.83 0.95 0.8707 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 2.179283 2.179283 NA 0.859767 0.94167 NA 0.841 NA 4.7141664 1189 10 5435918 5435918 G A exonic TUBAL3 NA synonymous SNV TUBAL3:NM_001171864:exon4:c.C783T:p.A261A,TUBAL3:NM_024803:exon4:c.C903T:p.A301A exonic ENSG00000178462 NA synonymous SNV ENSG00000178462:ENST00000380419:exon4:c.C903T:p.A301A,ENSG00000178462:ENST00000479328:exon4:c.C783T:p.A261A Score=468;Name=lod=106 NA 10p15.1 NA NA NA NA rs7097775 0.68 0.68 0.655 0.668131 0.6561 0.6478 0.7695 0.7436 0.5276 0.64 0.63 0.75 0.75 0.6546 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 -0.894291 NA NA 0.642326 0.727644 ID=COSM1128035;OCCURENCE=1(prostate) 0.623 NA 4.7136406 1189 4 120240238 120240238 T C exonic FABP2 NA synonymous SNV FABP2:NM_000134:exon4:c.A357G:p.V119V exonic ENSG00000145384 NA synonymous SNV ENSG00000145384:ENST00000274024:exon4:c.A357G:p.V119V NA NA 4q26 NA NA NA NA rs1511025 0.35 0.35 0.353 0.333067 0.3121 0.3948 0.33 0.4017 0.2004 0.31 0.4 0.3 0.41 0.3134 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.434867 NA NA 0.327863 0.375851 NA 0.203 NA 4.7133036 1189 15 77907775 77907775 T C exonic LINGO1 NA synonymous SNV LINGO1:NM_032808:exon2:c.A474G:p.L158L exonic ENSG00000169783 NA synonymous SNV ENSG00000169783:ENST00000355300:exon2:c.A474G:p.L158L,ENSG00000169783:ENST00000557798:exon2:c.A489G:p.L163L,ENSG00000169783:ENST00000561030:exon4:c.A456G:p.L152L,ENSG00000169783:ENST00000561686:exon4:c.A456G:p.L152L Score=680;Name=lod=770 NA 15q24.3 NA NA NA NA rs2271397 0.7 0.7 0.693 0.724042 0.6461 0.8304 0.6556 0.6838 0.7975 0.65 0.81 0.62 0.68 0.6703 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 0.123583 NA NA 0.637125 0.685194 NA 0.638 NA 4.7131416 1189 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,Pol2-4H8,HEY1 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 1189 20 36870122 36870122 T G exonic KIAA1755 NA synonymous SNV KIAA1755:NM_001029864:exon3:c.A411C:p.P137P exonic ENSG00000149633 NA synonymous SNV ENSG00000149633:ENST00000279024:exon3:c.A411C:p.P137P NA NA 20q11.23 NA NA NA NA rs1205435 0.3 0.3 0.284 0.264776 0.3191 0.2728 0.2262 0.2027 0.3119 0.34 0.27 0.25 0.29 0.3088 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.176518 NA NA 0.326395 0.206537 NA 0.275 NA 4.7123716 1189 8 133047071 133047071 G A exonic OC90 NA synonymous SNV OC90:NM_001080399:exon10:c.C690T:p.H230H exonic ENSG00000253117,ENSG00000258417 NA synonymous SNV ENSG00000253117:ENST00000254627:exon10:c.C690T:p.H230H,ENSG00000258417:ENST00000603859:exon10:c.C690T:p.H230H,ENSG00000258417:ENST00000443356:exon11:c.C738T:p.H246H,ENSG00000258417:ENST00000262283:exon14:c.C1326T:p.H442H NA NA 8q24.22 NA NA NA NA rs11779306 0.27 0.27 0.272 0.261382 0.3101 0.2629 0.2522 0.1717 0.3374 0.32 0.3 0.22 0.19 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 1.374589 1.374589 NA 0.331747 0.176684 NA 0.181 NA 4.7123196 1189 1 17563967 17563967 T C intronic PADI1 NA NA NA intronic ENSG00000142623 NA NA NA NA NA 1p36.13 NA Name=CTCF,ERalpha_a,BAF170,Ini1,p300_(N-15),Rad21,FOSL2,JunD,BAF155,GTF2F1_(RAP-74),GR,c-Fos,c-Jun 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 1189 2 190323530 190323530 A G exonic WDR75 NA synonymous SNV WDR75:NM_032168:exon7:c.A621G:p.T207T exonic ENSG00000115368 NA synonymous SNV ENSG00000115368:ENST00000314761:exon7:c.A621G:p.T207T Score=407;Name=lod=60 NA 2q32.2 NA NA NA NA rs1157910 0.56 0.56 0.533 0.525559 0.6551 0.6706 0.5375 0.267 0.5838 0.67 0.65 0.56 0.31 0.6195 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.26528 1.26528 NA 0.680698 0.321834 NA 0.529 NA 4.7113686 1189 1 216592003 216592003 T C exonic USH2A NA synonymous SNV USH2A:NM_007123:exon3:c.A504G:p.T168T,USH2A:NM_206933:exon3:c.A504G:p.T168T exonic ENSG00000042781 NA synonymous SNV ENSG00000042781:ENST00000307340:exon3:c.A504G:p.T168T,ENSG00000042781:ENST00000366942:exon3:c.A504G:p.T168T,ENSG00000042781:ENST00000366943:exon3:c.A504G:p.T168T NA NA 1q41 NA NA NA NA rs4253963 0.65 0.65 0.637 0.632788 0.664 0.8175 0.6614 0.4531 0.6329 0.66 0.81 0.67 0.45 0.6485 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 -0.322481 NA NA 0.64314 0.504993 NA 0.623 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041854.1|RCV000126251.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.7110266 1189 4 57182647 57182647 G A exonic KIAA1211 NA synonymous SNV KIAA1211:NM_020722:exon8:c.G2979A:p.A993A exonic ENSG00000109265 NA synonymous SNV ENSG00000109265:ENST00000504228:exon6:c.G2979A:p.A993A,ENSG00000109265:ENST00000541073:exon7:c.G2958A:p.A986A,ENSG00000109265:ENST00000264229:exon8:c.G2979A:p.A993A NA NA 4q12 NA NA NA NA rs3822003 0.22 0.22 0.217 0.189497 0.339 0.253 0.2061 0.0174 0.1912 0.34 0.25 0.22 0.02 0.2795 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.06257 NA NA 0.337284 0.073734 NA 0.203 NA 4.7108826 1189 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 1189 16 31153105 31153105 A G exonic PRSS36 NA synonymous SNV PRSS36:NM_001258290:exon11:c.T1683C:p.D561D,PRSS36:NM_001258291:exon11:c.T1698C:p.D566D,PRSS36:NM_173502:exon11:c.T1698C:p.D566D exonic ENSG00000178226 NA synonymous SNV ENSG00000178226:ENST00000268281:exon11:c.T1698C:p.D566D,ENSG00000178226:ENST00000418068:exon11:c.T1698C:p.D566D,ENSG00000178226:ENST00000569305:exon11:c.T1683C:p.D561D Score=366;Name=lod=41 NA 16p11.2 NA Name=USF-1 NA NA rs1549300 0.89 0.89 0.862 0.879393 0.999 0.999 0.9669 0.562 1 1 1 0.98 0.51 0.9613 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112976 NA NA 0.995814 0.621985 NA 0.812 NA 4.7105526 1189 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 1189 22 21800042 21800042 T C exonic HIC2 NA synonymous SNV HIC2:NM_015094:exon3:c.T858C:p.A286A exonic ENSG00000169635 NA synonymous SNV ENSG00000169635:ENST00000443632:exon2:c.T858C:p.A286A,ENSG00000169635:ENST00000407464:exon3:c.T858C:p.A286A,ENSG00000169635:ENST00000407598:exon3:c.T858C:p.A286A Score=343;Name=lod=33 NA 22q11.21 Score=819;Name=V$HNF4_01 NA NA NA rs467181 0.98 0.98 0.992 0.940495 0.994 0.9375 0.9928 1 0.771 0.99 0.95 0.99 1 0.9683 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.839204 NA NA 0.994635 0.998858 NA 0.957 NA 4.7097316 1189 9 20620596 20620596 C T intronic MLLT3 NA NA NA intronic ENSG00000171843 NA NA NA NA NA 9p21.3 NA NA Name=99 NA rs2780835 0.25 0.25 0.28 0.271166 0.2903 0.2014 0.1945 0.3457 0.2771 0.28 0.18 0.2 0.31 NA 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.427719 3.427719 NA NA NA NA 0.326 NA 4.7097 1189 19 58352522 58352522 G A exonic ZNF587B NA synonymous SNV ZNF587B:NM_001204818:exon3:c.G480A:p.R160R exonic ENSG00000269343 NA synonymous SNV ENSG00000269343:ENST00000316462:exon3:c.G477A:p.R159R,ENSG00000269343:ENST00000442832:exon3:c.G480A:p.R160R,ENSG00000269343:ENST00000594901:exon3:c.G480A:p.R160R,ENSG00000269343:ENST00000594328:exon4:c.G330A:p.R110R NA NA 19q13.43 NA NA NA NA rs12981244 0.58 0.58 0.574 0.572883 0.4622 0.6796 0.5634 0.7405 0.3569 0.47 0.67 0.52 0.71 0.4949 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630926 NA NA NA NA NA 0.471 NA 4.7095666 1189 17 8464856 8464856 G A intronic MYH10 NA NA NA ncRNA_exonic ENSG00000244604 NA NA NA Score=705;Name=lod=979 NA 17p13.1 NA NA NA NA rs1845588 0.5 0.5 0.467 0.46885 0.6243 0.496 0.5375 0.2519 0.5256 0.62 0.51 0.6 0.25 NA 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.298698 NA NA NA NA NA 0.464 NA 4.7090333 1189 5 35010138 35010138 A G exonic AGXT2 NA synonymous SNV AGXT2:NM_031900:exon12:c.T1305C:p.G435G exonic ENSG00000113492 NA synonymous SNV ENSG00000113492:ENST00000510428:exon10:c.T1080C:p.G360G,ENSG00000113492:ENST00000231420:exon12:c.T1305C:p.G435G Score=556;Name=lod=242 NA 5p13.2 Score=817;Name=V$HNF4_01_B NA NA NA rs466067 0.91 0.91 0.922 0.894569 1 0.7897 0.9409 0.8601 0.908 1 0.81 0.96 0.86 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 1.201014 NA NA 0.999302 0.87744 NA 0.891 NA 4.7087646 1189 18 77513721 77513721 T C exonic CTDP1 NA synonymous SNV CTDP1:NM_001202504:exon13:c.T2460C:p.D820D,CTDP1:NM_004715:exon13:c.T2817C:p.D939D exonic ENSG00000060069 NA synonymous SNV ENSG00000060069:ENST00000299543:exon13:c.T2817C:p.D939D Score=565;Name=lod=264 NA 18q23 NA NA NA NA rs626169 0.92 0.92 0.898 0.895168 0.998 1 0.9683 0.6369 0.9785 1 1 0.98 0.66 0.9666 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.392193 1.392193 NA 0.993372 0.707217 NA 0.645 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116845.2;CLNDSDB=.;CLNDSDBID=. 4.7086946 1189 15 72637795 72637795 T C exonic HEXA NA synonymous SNV HEXA:NM_000520:exon13:c.A1518G:p.E506E exonic ENSG00000213614 NA synonymous SNV ENSG00000213614:ENST00000268097:exon13:c.A1518G:p.E506E,ENSG00000213614:ENST00000566304:exon13:c.A1551G:p.E517E,ENSG00000213614:ENST00000567159:exon13:c.A1518G:p.E506E Score=448;Name=lod=88 NA 15q23 NA NA NA NA rs4777502 0.9 0.9 0.882 0.876997 0.996 1 0.9741 0.5514 0.999 1 1 0.97 0.58 0.9641 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.945727 2.945727 NA 0.998022 0.618463 NA 0.884 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079051.3;CLNDSDB=.;CLNDSDBID=. 4.7085446 1189 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 1189 1 22927314 22927314 A G intronic EPHA8 NA NA NA intronic ENSG00000070886 NA NA NA NA NA 1p36.12 NA Name=USF-1,USF2 Name=5 NA rs209702 0.47 0.47 0.476 0.531749 0.4264 0.3552 0.5331 0.7625 0.5092 0.4 0.37 0.49 0.68 0.4611 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.352578 NA NA 0.404535 0.716523 NA 0.594 NA 4.707965 1189 1 201052312 201052312 A C exonic CACNA1S NA synonymous SNV CACNA1S:NM_000069:exon10:c.T1371G:p.P457P exonic ENSG00000081248 NA synonymous SNV ENSG00000081248:ENST00000362061:exon10:c.T1371G:p.P457P,ENSG00000081248:ENST00000367338:exon10:c.T1371G:p.P457P NA NA 1q32.1 NA NA NA NA rs12742170 0.17 0.17 0.153 0.127196 0.34 0.001 0.2032 0.0257 0.1217 0.35 0.0017 0.27 0.04 0.2428 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076063 NA NA 0.376163 0.076487 NA NA NA 4.7077036 1189 7 32613020 32613020 A G exonic AVL9 NA synonymous SNV AVL9:NM_015060:exon12:c.A1560G:p.T520T exonic ENSG00000105778 NA synonymous SNV ENSG00000105778:ENST00000446718:exon11:c.A1353G:p.T451T,ENSG00000105778:ENST00000318709:exon12:c.A1560G:p.T520T,ENSG00000105778:ENST00000409301:exon12:c.A1560G:p.T520T NA NA 7p14.3 NA Name=CEBPB NA NA rs1993050 0.6 0.6 0.535 0.56869 0.6551 0.6677 0.7147 0.3933 0.5112 0.66 0.66 0.69 0.38 0.6422 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 0.938986 NA NA 0.661744 0.43123 ID=COSM150265;OCCURENCE=1(stomach) 0.522 NA 4.7076226 1189 8 145692385 145692385 C T exonic KIFC2 NA synonymous SNV KIFC2:NM_145754:exon3:c.C222T:p.G74G exonic ENSG00000167702 NA synonymous SNV ENSG00000167702:ENST00000301332:exon3:c.C222T:p.G74G NA NA 8q24.3 NA Name=ATF3,ZEB1_(SC-25388),HMGN3,E2F6,CTCF,p300,USF1_(SC-8983),USF2,USF-1,CTCFL_(SC-98982),ZBTB7A_(SC-34508),TBP,CCNT2,Egr-1,THAP1_(SC-98174),Sin3Ak-20,E2F4,Rad21,IRF1,Max,YY1_(C-20) Name=81 NA rs2250891 0.9 0.9 0.909 0.914137 0.998 0.8075 0.9236 0.8654 0.9969 1 0.79 0.93 0.84 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 0.792999 NA NA 0.996352 0.926161 NA 0.681 NA 4.7074146 1189 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 1189 1 235590559 235590559 G A intronic TBCE NA NA NA intronic ENSG00000116957 NA NA NA Score=417;Name=lod=66 NA 1q42.3 NA NA NA NA rs12757197 0.1 0.1 0.098 0.116813 0.0885 0.0208 0.0807 0.2511 0.089 0.08 0.02 0.09 0.24 0.0998 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.768289 1.768289 NA 0.104767 0.219246 NA 0.138 NA 4.706933 1189 14 102808330 102808330 C T exonic ZNF839 NA synonymous SNV ZNF839:NM_001267827:exon8:c.C2250T:p.V750V,ZNF839:NM_001267828:exon8:c.C2250T:p.V750V,ZNF839:NM_018335:exon8:c.C2598T:p.V866V exonic ENSG00000022976 NA synonymous SNV ENSG00000022976:ENST00000561251:exon6:c.C1242T:p.V414V,ENSG00000022976:ENST00000262236:exon8:c.C2256T:p.V752V,ENSG00000022976:ENST00000442396:exon8:c.C2598T:p.V866V,ENSG00000022976:ENST00000558850:exon8:c.C2250T:p.V750V,ENSG00000022976:ENST00000559185:exon8:c.C2250T:p.V750V NA NA 14q32.31 NA NA NA NA rs12590618 0.32 0.32 0.287 0.268171 0.337 0.496 0.2594 0.0734 0.2321 0.35 0.51 0.27 0.09 0.3027 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04982 NA NA 0.320068 0.113777 NA 0.348 NA 4.7068986 1189 22 17414892 17414892 G T intergenic HSFY1P1,GAB4 dist=104667;dist=27935 NA NA ncRNA_exonic ENSG00000253481 NA NA NA Score=371;Name=lod=43 NA 22q11.1 NA NA NA NA rs12167026 0.25 0.25 0.214 0.265575 0.2932 0.2688 0.2997 0.121 0.4049 0.3 0.28 0.29 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 -0.422691 NA NA NA NA NA 0.152 NA 4.7068 1189 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 1189 6 88221103 88221103 T C intronic SLC35A1 NA NA NA intronic ENSG00000164414 NA NA NA NA NA 6q15 NA NA NA NA rs56136150 0.12 0.12 0.101 0.115016 0.0984 0.1458 0.134 0.1044 0.1012 0.11 0.14 0.13 0.11 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 0.71178 NA NA 0.09093 0.117567 NA 0.138 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081414.1;CLNDSDB=.;CLNDSDBID=. 4.70607 1189 3 140281723 140281723 C T exonic CLSTN2 NA synonymous SNV CLSTN2:NM_022131:exon14:c.C2283T:p.S761S exonic ENSG00000158258 NA synonymous SNV ENSG00000158258:ENST00000458420:exon14:c.C2283T:p.S761S NA NA 3q23 Score=806;Name=V$OLF1_01 NA NA NA rs11714465 0.36 0.36 0.334 0.336462 0.6769 0.1022 0.4957 0.0666 0.4796 0.67 0.09 0.51 0.09 0.5738 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006767 NA NA 0.710465 0.162733 NA 0.406 NA 4.7055016 1189 1 165377552 165377552 G A exonic RXRG NA synonymous SNV RXRG:NM_001256571:exon7:c.C681T:p.V227V,RXRG:NM_006917:exon8:c.C1050T:p.V350V,RXRG:NM_001256570:exon9:c.C681T:p.V227V exonic ENSG00000143171 NA synonymous SNV ENSG00000143171:ENST00000359842:exon8:c.C1050T:p.V350V Score=395;Name=lod=54 NA 1q23.3 NA NA NA NA rs2134095 0.53 0.53 0.487 0.478834 0.671 0.5079 0.6023 0.2284 0.502 0.68 0.51 0.62 0.23 0.6105 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.522951 NA NA 0.679884 0.309578 NA 0.449 NA 4.7052826 1190 19 47585517 47585517 G C exonic ZC3H4 NA synonymous SNV ZC3H4:NM_015168:exon10:c.C1254G:p.L418L exonic ENSG00000130749 NA synonymous SNV ENSG00000130749:ENST00000253048:exon10:c.C1254G:p.L418L Score=552;Name=lod=234 NA 19q13.32 NA NA NA NA rs7250850 0.42 0.42 0.402 0.374601 0.6869 0.2758 0.5403 0.1006 0.408 0.69 0.26 0.53 0.1 0.5761 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.327424 1.327424 NA 0.69952 0.242872 NA 0.377 NA 4.7041466 1190 2 85781318 85781318 T G exonic GGCX NA synonymous SNV GGCX:NM_001142269:exon6:c.A666C:p.G222G,GGCX:NM_000821:exon7:c.A837C:p.G279G exonic ENSG00000115486 NA synonymous SNV ENSG00000115486:ENST00000430215:exon6:c.A666C:p.G222G,ENSG00000115486:ENST00000233838:exon7:c.A837C:p.G279G Score=265;Name=lod=16 NA 2p11.2 Score=827;Name=V$GR_Q6 NA NA NA rs1254896 1 1 0.999 0.996605 0.9901 1 1 1 0.9928 0.99 1 1 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 1.088298 NA NA 0.984651 0.996596 NA 0.986 NA 4.7040156 1190 19 46511548 46511548 T C exonic CCDC61 NA synonymous SNV CCDC61:NM_001267723:exon5:c.T540C:p.H180H exonic ENSG00000104983 NA synonymous SNV ENSG00000104983:ENST00000594087:exon4:c.T540C:p.H180H,ENSG00000104983:ENST00000536603:exon5:c.T540C:p.H180H,ENSG00000104983:ENST00000595358:exon5:c.T540C:p.H180H,ENSG00000104983:ENST00000263284:exon6:c.T711C:p.H237H Score=456;Name=lod=95 NA 19q13.32 Score=887;Name=V$HAND1E47_01 NA NA NA rs2287305 0.93 0.93 0.936 0.933506 0.994 0.878 0.9352 0.8873 0.9898 0.99 0.89 0.93 0.89 0.9702 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.958989 NA NA 0.998533 0.921875 NA 0.942 NA 4.7039336 1190 15 100246942 100246942 G A exonic MEF2A NA synonymous SNV MEF2A:NM_001130928:exon6:c.G663A:p.Q221Q,MEF2A:NM_001130926:exon8:c.G867A:p.Q289Q,MEF2A:NM_001130927:exon8:c.G687A:p.Q229Q,MEF2A:NM_005587:exon9:c.G873A:p.Q291Q,MEF2A:NM_001171894:exon10:c.G867A:p.Q289Q exonic ENSG00000068305 NA synonymous SNV ENSG00000068305:ENST00000449277:exon7:c.G663A:p.Q221Q,ENSG00000068305:ENST00000453228:exon8:c.G867A:p.Q289Q,ENSG00000068305:ENST00000558812:exon8:c.G687A:p.Q229Q,ENSG00000068305:ENST00000354410:exon9:c.G873A:p.Q291Q,ENSG00000068305:ENST00000557785:exon9:c.G867A:p.Q289Q,ENSG00000068305:ENST00000338042:exon10:c.G894A:p.Q298Q,ENSG00000068305:ENST00000557942:exon10:c.G891A:p.Q297Q Score=532;Name=lod=193 NA 15q26.3 NA NA Name=4 NA rs325407 0.91 0.91 0.883 0.886781 0.999 1 0.9712 0.587 1 1 1 0.97 0.61 0.9669 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.119697 NA NA 0.997465 0.646154 NA 0.862 NA 4.7033016 1190 3 53223927 53223927 C G exonic PRKCD NA synonymous SNV PRKCD:NM_212539:exon17:c.C1782G:p.T594T,PRKCD:NM_006254:exon18:c.C1782G:p.T594T exonic ENSG00000163932 NA synonymous SNV ENSG00000163932:ENST00000394729:exon17:c.C1782G:p.T594T,ENSG00000163932:ENST00000330452:exon18:c.C1782G:p.T594T Score=475;Name=lod=114 NA 3p21.1 Score=855;Name=V$P300_01 NA NA NA rs1075865 0.93 0.93 0.911 0.901957 1 0.9653 0.9697 0.7753 0.8589 1 0.97 0.98 0.74 0.9655 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.505208 NA NA 0.998605 0.8064 NA 0.928 NA 4.7025616 1190 22 39966856 39966856 C T exonic CACNA1I NA synonymous SNV CACNA1I:NM_001003406:exon1:c.C99T:p.S33S,CACNA1I:NM_021096:exon1:c.C99T:p.S33S exonic ENSG00000100346 NA synonymous SNV ENSG00000100346:ENST00000336649:exon1:c.C99T:p.S33S,ENSG00000100346:ENST00000400164:exon1:c.C99T:p.S33S,ENSG00000100346:ENST00000401624:exon1:c.C99T:p.S33S,ENSG00000100346:ENST00000402142:exon1:c.C99T:p.S33S,ENSG00000100346:ENST00000404898:exon1:c.C99T:p.S33S,ENSG00000100346:ENST00000407673:exon1:c.C99T:p.S33S NA NA 22q13.1 NA NA NA NA rs3747178 0.37 0.37 0.338 0.328874 0.3429 0.7272 0.33 0.0545 0.274 0.33 0.75 0.27 0.06 0.3209 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 -0.731532 NA NA 0.300528 0.086838 NA 0.159 NA 4.7023386 1190 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 1190 7 94039032 94039032 C T intronic COL1A2 NA NA NA intronic ENSG00000164692 NA NA NA Score=425;Name=lod=71 NA 7q21.3 NA Name=Pol2 Name=10 NA rs42519 0.85 0.85 0.868 0.824281 0.7674 0.9018 0.83 0.9206 0.6687 0.78 0.94 0.81 0.91 0.7742 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 -0.175848 NA NA 0.756744 0.896505 NA 0.819 NA 4.701656 1190 11 64026685 64026685 C T exonic PLCB3 NA synonymous SNV PLCB3:NM_001184883:exon11:c.C1293T:p.S431S,PLCB3:NM_000932:exon13:c.C1494T:p.S498S exonic ENSG00000149782 NA synonymous SNV ENSG00000149782:ENST00000325234:exon11:c.C1293T:p.S431S,ENSG00000149782:ENST00000279230:exon13:c.C1494T:p.S498S,ENSG00000149782:ENST00000540288:exon13:c.C1494T:p.S498S NA NA 11q13.1 NA NA NA NA rs28395882 0.17 0.17 0.167 0.172724 0.3012 0.1339 0.147 0.0234 0.3006 0.29 0.13 0.18 0.04 0.3622 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.976988 NA NA 0.301773 0.056175 ID=COSM429525;OCCURENCE=1(breast) 0.246 NA 4.7014936 1190 9 134136515 134136515 A G exonic FAM78A NA synonymous SNV FAM78A:NM_033387:exon2:c.T546C:p.N182N exonic ENSG00000126882 NA synonymous SNV ENSG00000126882:ENST00000372271:exon2:c.T546C:p.N182N,ENSG00000126882:ENST00000372269:exon4:c.T537C:p.N179N,ENSG00000126882:ENST00000464831:exon4:c.T453C:p.N151N Score=751;Name=lod=1510 NA 9q34.13 Score=837;Name=V$CDPCR3_01 NA NA NA rs352952 0.94 0.94 0.925 0.91873 0.996 0.9752 0.9625 0.7496 0.9785 1 0.97 0.96 0.79 0.9721 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.927292 NA NA 0.997326 0.794825 NA 0.891 NA 4.7012406 1190 15 64385851 64385851 T C exonic FAM96A NA synonymous SNV FAM96A:NM_001014812:exon1:c.A117G:p.E39E,FAM96A:NM_032231:exon1:c.A117G:p.E39E exonic ENSG00000166797 NA synonymous SNV ENSG00000166797:ENST00000300030:exon1:c.A117G:p.E39E,ENSG00000166797:ENST00000380290:exon1:c.A117G:p.E39E,ENSG00000166797:ENST00000557835:exon1:c.A117G:p.E39E,ENSG00000166797:ENST00000559705:exon1:c.A117G:p.E39E,ENSG00000166797:ENST00000559950:exon1:c.A117G:p.E39E Score=665;Name=lod=670 NA 15q22.31 NA Name=Sin3Ak-20,NRSF,Pol2(b),Pol2,HEY1 NA NA rs332259 0.93 0.93 0.905 0.916933 0.996 1 0.9755 0.7027 0.998 1 1 0.97 0.71 0.9734 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.40553 1.40553 NA 0.996047 0.748979 NA 0.884 NA 4.7012196 1190 11 85447611 85447611 T C exonic SYTL2 NA synonymous SNV SYTL2:NM_001162951:exon5:c.A516G:p.S172S,SYTL2:NM_001162953:exon5:c.A519G:p.S173S,SYTL2:NM_032943:exon6:c.A516G:p.S172S exonic ENSG00000137501 NA synonymous SNV ENSG00000137501:ENST00000524452:exon5:c.A516G:p.S172S,ENSG00000137501:ENST00000527523:exon5:c.A372G:p.S124S,ENSG00000137501:ENST00000528231:exon5:c.A516G:p.S172S,ENSG00000137501:ENST00000316356:exon6:c.A519G:p.S173S,ENSG00000137501:ENST00000389960:exon6:c.A516G:p.S172S NA NA 11q14.1 NA NA Name=22 NA rs680498 0.67 0.67 0.683 0.653954 0.6551 0.6171 0.5677 0.823 0.5235 0.66 0.58 0.6 0.83 0.6528 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 -0.200559 NA NA 0.657864 0.785974 NA 0.522 NA 4.7009026 1190 3 15311325 15311325 A G exonic SH3BP5 NA synonymous SNV SH3BP5:NM_004844:exon4:c.T390C:p.R130R exonic ENSG00000131370 NA synonymous SNV ENSG00000131370:ENST00000383791:exon4:c.T390C:p.R130R NA NA 3p25.1 NA Name=Pol2(b),TBP,YY1,c-Fos,ZNF263,JunD,SMC3_(ab9263),Max,Rad21,c-Myc,TAL1_(SC-12984),IRF1,eGFP-JunD,E2F4,HMGN3,c-Jun,EBF1_(C-8),Pol2-4H8,HEY1,ELF1_(SC-631),p300_(F-4),Pol2,E2F6,Brg1,CTCF NA NA rs1287467 0.52 0.52 0.52 0.509185 0.6889 0.1895 0.4697 0.6248 0.5256 0.7 0.14 0.54 0.65 0.5919 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 -0.23495 NA NA 0.685233 0.611893 NA 0.587 NA 4.7006336 1190 11 70007311 70007311 A G exonic ANO1 NA synonymous SNV ANO1:NM_018043:exon17:c.A1623G:p.R541R exonic ENSG00000131620 NA synonymous SNV ENSG00000131620:ENST00000531300:exon6:c.A276G:p.R92R,ENSG00000131620:ENST00000531349:exon11:c.A750G:p.R250R,ENSG00000131620:ENST00000316296:exon15:c.A1449G:p.R483R,ENSG00000131620:ENST00000398543:exon15:c.A1185G:p.R395R,ENSG00000131620:ENST00000530676:exon15:c.A1185G:p.R395R,ENSG00000131620:ENST00000355303:exon17:c.A1623G:p.R541R,ENSG00000131620:ENST00000538023:exon17:c.A1623G:p.R541R Score=494;Name=lod=136 NA 11q13.3 NA NA NA NA rs2276066 0.62 0.62 0.614 0.603235 0.6501 0.7798 0.5807 0.3986 0.6656 0.66 0.78 0.57 0.4 0.656 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 1.64231 1.64231 NA 0.660185 0.440471 NA 0.58 NA 4.7003816 1190 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 1190 19 11129600 11129600 C T intronic SMARCA4 NA NA NA intronic ENSG00000127616 NA NA NA NA NA 19p13.2 NA NA Name=5 NA rs62129061 0.05 0.05 0.056 0.0365415 0.0954 0.0308 0.0331 0.0061 0.0256 0.1 0.04 0.04 0.01 0.0846 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 -0.324586 NA NA 0.119884 0.022923 NA 0.051 NA 4.700116 1190 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 1190 13 21562832 21562832 C T exonic LATS2 NA nonsynonymous SNV LATS2:NM_014572:exon4:c.G1087A:p.G363S exonic ENSG00000150457 NA nonsynonymous SNV ENSG00000150457:ENST00000382592:exon4:c.G1087A:p.G363S,ENSG00000150457:ENST00000542899:exon4:c.G1087A:p.G363S NA NA 13q12.11 NA NA NA NA rs2770928 0.87 0.87 0.873 0.85024 0.8767 0.997 0.9135 0.6876 0.8466 0.87 1 0.91 0.68 0.8729 1 1 T 0.002 B 0.003 B 0.807 N 1.000 P 1.32 L 0.4 T -0.913 T 0.000 T 0.089 0.087 4.469 -1.07 -0.622 0.768 11.420 0.087 NA 0.62 0.883924 0.733703 ID=COSM432207;OCCURENCE=1(breast) 0.674 NA 4.6998094 1190 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 1190 6 37623566 37623566 C T exonic MDGA1 NA synonymous SNV MDGA1:NM_153487:exon4:c.G489A:p.P163P exonic ENSG00000112139 NA synonymous SNV ENSG00000112139:ENST00000297153:exon4:c.G489A:p.P163P,ENSG00000112139:ENST00000434837:exon4:c.G489A:p.P163P,ENSG00000112139:ENST00000505425:exon4:c.G489A:p.P163P,ENSG00000112139:ENST00000515437:exon4:c.G321A:p.P107P NA NA 6p21.2 Score=865;Name=V$SPZ1_01 NA NA NA rs3846874 0.63 0.63 0.575 0.63738 0.6561 0.8313 0.7017 0.3548 0.7546 0.67 0.82 0.65 0.33 0.6677 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 0.322361 NA NA 0.643713 0.437377 ID=COSM1444170;OCCURENCE=1(large_intestine) 0.587 NA 4.6991536 1190 7 4308362 4308362 C T exonic SDK1 NA nonsynonymous SNV SDK1:NM_001079653:exon20:c.C2020T:p.R674C UTR3 ENSG00000146555 ENST00000404826:c.*3346C>T NA NA NA NA 7p22.2 NA NA NA NA rs8514 0.16 0.16 0.126 0.120807 0.2465 0.1121 0.1772 0.0431 0.0654 0.26 0.12 0.19 0.05 0.1792 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.430888 NA 0 0.20875 0.057876 NA 0.13 NA 4.6988834 1190 16 84229436 84229436 G A exonic ADAD2 NA synonymous SNV ADAD2:NM_001145400:exon7:c.G1068A:p.S356S,ADAD2:NM_139174:exon8:c.G1314A:p.S438S exonic ENSG00000140955 NA synonymous SNV ENSG00000140955:ENST00000315906:exon7:c.G1068A:p.S356S,ENSG00000140955:ENST00000268624:exon8:c.G1314A:p.S438S NA NA 16q24.1 NA NA NA NA rs62049905 0.31 0.31 0.297 0.314497 0.3211 0.2292 0.4438 0.2784 0.3528 0.33 0.28 0.38 0.25 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 -1.414436 NA NA 0.301389 0.282699 ID=COSM435868;OCCURENCE=1(breast) 0.246 NA 4.6988776 1190 12 53703021 53703021 G A exonic AAAS NA synonymous SNV AAAS:NM_001173466:exon8:c.C756T:p.F252F,AAAS:NM_015665:exon9:c.C855T:p.F285F exonic ENSG00000094914 NA synonymous SNV ENSG00000094914:ENST00000548931:exon4:c.C375T:p.F125F,ENSG00000094914:ENST00000394384:exon8:c.C756T:p.F252F,ENSG00000094914:ENST00000547757:exon8:c.C756T:p.F252F,ENSG00000094914:ENST00000550286:exon8:c.C483T:p.F161F,ENSG00000094914:ENST00000209873:exon9:c.C855T:p.F285F Score=540;Name=lod=209 NA 12q13.13 NA NA NA NA rs1546808 0.93 0.93 0.913 0.915335 0.995 1 0.9798 0.6936 1 0.99 1 0.98 0.69 0.9745 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.475911 1.475911 NA 0.998488 0.726282 NA 0.913 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116212.2;CLNDSDB=.;CLNDSDBID=. 4.6986786 1190 12 53084928 53084928 T G UTR3 KRT77 NM_175078:c.*21A>C NA NA UTR3 ENSG00000189182 ENST00000341809:c.*21A>C,ENST00000537195:c.*21A>C,ENST00000553168:c.*1096A>C NA NA NA NA 12q13.13 NA NA Name=5 NA rs11170236 0.1 0.1 0.099 0.0916534 0.2187 0.002 0.1066 0.0106 0.1524 0.23 NA 0.12 0.02 0.186 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.5082 NA NA 0.230142 0.048864 NA 0.116 NA 4.6984914 1190 17 505139 505139 G A intronic VPS53 NA NA NA intronic ENSG00000141252 NA NA NA NA NA 17p13.3 NA Name=Pol2,GATA-2,NF-YA,GATA-1,eGFP-JunD NA NA rs56807006 0.08 0.08 0.078 0.0692891 0.1083 0.0962 0.0375 0.0424 0.0603 0.1 0.1 0.04 0.05 0.0885 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 -0.417903 NA NA 0.104767 0.043123 NA 0.167 NA 4.698433 1190 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 1190 3 41925423 41925423 T C exonic ULK4 NA synonymous SNV ULK4:NM_017886:exon17:c.A1599G:p.V533V exonic ENSG00000168038 NA synonymous SNV ENSG00000168038:ENST00000301831:exon17:c.A1599G:p.V533V,ENSG00000168038:ENST00000420927:exon17:c.A1599G:p.V533V Score=455;Name=lod=94 NA 3p22.1 NA Name=USF-1 NA NA rs1716687 0.93 0.93 0.921 0.919329 0.996 1 0.9827 0.7065 1 1 1 0.99 0.71 0.9769 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331298 NA NA 0.995376 0.768967 NA 0.884 NA 4.6983906 1190 16 29814234 29814234 G A exonic KIF22 NA synonymous SNV KIF22:NM_001256270:exon9:c.G1221A:p.V407V,KIF22:NM_007317:exon9:c.G1425A:p.V475V,KIF22:NM_001256269:exon10:c.G1221A:p.V407V exonic ENSG00000079616 NA synonymous SNV ENSG00000079616:ENST00000569382:exon8:c.G1221A:p.V407V,ENSG00000079616:ENST00000160827:exon9:c.G1425A:p.V475V,ENSG00000079616:ENST00000400751:exon9:c.G1221A:p.V407V,ENSG00000079616:ENST00000561482:exon9:c.G1221A:p.V407V Score=431;Name=lod=75 NA 16p11.2 NA Name=Pol2-4H8 NA NA rs2450399 0.92 0.92 0.907 0.903155 1 0.9345 0.9697 0.7012 0.9969 1 0.95 0.98 0.72 0.9696 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.690228 NA NA 0.998721 0.734411 NA 0.906 NA 4.6983456 1190 15 42483769 42483769 C G intronic VPS39 NA NA NA intronic ENSG00000166887 NA NA NA NA NA 15q15.1 Score=1000;Name=V$SRY_01 NA NA NA rs647581 0.15 0.15 0.132 0.183706 0.0855 0.0843 0.1873 0.2927 0.2372 0.08 0.09 0.19 0.29 0.1341 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.007691 NA NA 0.082112 0.256812 NA 0.109 NA 4.698288 1190 14 65239894 65239894 C T intronic SPTB NA NA NA intronic ENSG00000070182 NA NA NA NA NA 14q23.3 NA Name=Max NA NA rs747860 0.08 0.08 0.084 0.0796725 0.1163 0.0347 0.0692 0.0756 0.1012 0.11 0.05 0.07 0.07 0.0866 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.267644 NA NA 0.098837 0.069451 NA 0.087 NA 4.698263 1190 11 46914583 46914583 T C exonic LRP4 NA synonymous SNV LRP4:NM_002334:exon13:c.A1638G:p.K546K exonic ENSG00000134569 NA synonymous SNV ENSG00000134569:ENST00000378623:exon13:c.A1638G:p.K546K Score=490;Name=lod=131 NA 11p11.2 Score=918;Name=V$ELK1_02 NA NA NA rs10838631 0.98 0.98 0.983 0.980831 0.993 1 0.9928 0.938 0.998 0.99 1 0.98 0.94 0.9888 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.19706 NA NA 0.986974 0.964107 NA 1 NA 4.6978926 1190 1 236711323 236711323 T C exonic LGALS8 NA synonymous SNV LGALS8:NM_201544:exon10:c.T816C:p.Y272Y,LGALS8:NM_201543:exon11:c.T816C:p.Y272Y,LGALS8:NM_006499:exon12:c.T942C:p.Y314Y,LGALS8:NM_201545:exon12:c.T942C:p.Y314Y exonic ENSG00000116977 NA synonymous SNV ENSG00000116977:ENST00000525042:exon8:c.T765C:p.Y255Y,ENSG00000116977:ENST00000416919:exon9:c.T765C:p.Y255Y,ENSG00000116977:ENST00000323938:exon10:c.T735C:p.Y245Y,ENSG00000116977:ENST00000366584:exon10:c.T816C:p.Y272Y,ENSG00000116977:ENST00000526634:exon10:c.T816C:p.Y272Y,ENSG00000116977:ENST00000341872:exon11:c.T816C:p.Y272Y,ENSG00000116977:ENST00000527974:exon11:c.T942C:p.Y314Y,ENSG00000116977:ENST00000352231:exon12:c.T942C:p.Y314Y,ENSG00000116977:ENST00000450372:exon12:c.T942C:p.Y314Y,ENSG00000116977:ENST00000526589:exon14:c.T942C:p.Y314Y Score=457;Name=lod=96 NA 1q43 NA NA NA NA rs15701 0.56 0.56 0.542 0.500399 0.6759 0.4772 0.5101 0.4448 0.4121 0.68 0.49 0.55 0.46 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 1.068838 NA NA 0.682442 0.492737 NA 0.616 NA 4.6978246 1190 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 1190 10 122663585 122663585 G A exonic WDR11 NA synonymous SNV WDR11:NM_018117:exon24:c.G2958A:p.L986L exonic ENSG00000120008 NA synonymous SNV ENSG00000120008:ENST00000263461:exon24:c.G2958A:p.L986L NA NA 10q26.12 Score=947;Name=V$CETS1P54_01 NA NA NA rs1652727 0.66 0.66 0.674 0.676518 0.6511 0.5179 0.6657 0.8752 0.6053 0.64 0.49 0.67 0.88 0.6644 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.793536 NA NA 0.654419 0.859283 NA 0.725 NA 4.6967476 1190 9 127101924 127101924 C T exonic NEK6 NA synonymous SNV NEK6:NM_001166167:exon8:c.C751T:p.L251L,NEK6:NM_001166168:exon8:c.C697T:p.L233L,NEK6:NM_001166169:exon8:c.C772T:p.L258L,NEK6:NM_001166170:exon8:c.C697T:p.L233L,NEK6:NM_014397:exon8:c.C697T:p.L233L,NEK6:NM_001145001:exon9:c.C799T:p.L267L,NEK6:NM_001166171:exon9:c.C799T:p.L267L exonic ENSG00000119408 NA synonymous SNV ENSG00000119408:ENST00000454453:exon6:c.C493T:p.L165L,ENSG00000119408:ENST00000320246:exon8:c.C697T:p.L233L,ENSG00000119408:ENST00000373603:exon8:c.C697T:p.L233L,ENSG00000119408:ENST00000539416:exon8:c.C772T:p.L258L,ENSG00000119408:ENST00000540326:exon8:c.C751T:p.L251L,ENSG00000119408:ENST00000545174:exon8:c.C697T:p.L233L,ENSG00000119408:ENST00000546191:exon8:c.C697T:p.L233L,ENSG00000119408:ENST00000373600:exon9:c.C799T:p.L267L,ENSG00000119408:ENST00000394199:exon9:c.C799T:p.L267L Score=551;Name=lod=231 NA 9q33.3 Score=907;Name=V$TAL1BETAITF2_01 NA NA NA rs10760354 0.94 0.94 0.924 0.921526 0.998 1 0.9654 0.7277 0.9928 1 1 0.97 0.75 0.9755 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.514966 1.514966 NA 0.996512 0.772129 NA 0.906 NA 4.6966546 1190 15 77344793 77344793 T A exonic TSPAN3 NA synonymous SNV TSPAN3:NM_001168412:exon5:c.A411T:p.V137V,TSPAN3:NM_198902:exon5:c.A528T:p.V176V,TSPAN3:NM_005724:exon6:c.A603T:p.V201V exonic ENSG00000140391 NA synonymous SNV ENSG00000140391:ENST00000559494:exon4:c.A336T:p.V112V,ENSG00000140391:ENST00000346495:exon5:c.A528T:p.V176V,ENSG00000140391:ENST00000424443:exon5:c.A411T:p.V137V,ENSG00000140391:ENST00000267970:exon6:c.A603T:p.V201V Score=511;Name=lod=159 NA 15q24.3 NA NA NA NA rs11737 0.53 0.53 0.535 0.491214 0.6859 0.4028 0.5504 0.3858 0.4826 0.67 0.46 0.58 0.37 0.5999 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.383721 1.383721 NA 0.684327 0.452413 NA 0.652 NA 4.6965396 1190 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 1190 11 119213303 119213303 C T intronic C1QTNF5,MFRP NA NA NA intronic ENSG00000223953,ENSG00000235718,ENSG00000259159 NA NA NA Score=352;Name=lod=36 NA 11q23.3 NA NA NA NA rs11217241 0.17 0.17 0.143 0.240016 0.0726 0.4415 0.1542 0.0651 0.502 0.07 0.42 0.1 0.07 0.1683 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.148151 2.148151 NA 0.062762 0.067592 NA 0.138 NA 4.696338 1190 4 41646651 41646651 G C intronic LIMCH1 NA NA NA intronic ENSG00000064042 NA NA NA NA NA 4p13 NA Name=CtBP2 Name=91 NA rs2304647 0.43 0.43 0.427 0.488219 0.4195 0.1508 0.4424 0.792 0.5286 0.42 0.16 0.4 0.77 0.4514 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 0.263926 NA NA 0.432791 0.736042 NA 0.449 NA 4.696309 1190 1 120336785 120336785 C T UTR3 REG4 NM_001159352:c.*456G>A,NM_032044:c.*456G>A NA NA UTR3 ENSG00000134193 ENST00000354219:c.*456G>A,ENST00000256585:c.*456G>A NA NA NA NA 1p12 NA Name=FOXA1_(SC-101058) NA NA rs1052972 0.49 0.49 0.505 0.536741 0.5467 0.2411 0.4121 0.7852 0.5838 0.54 0.23 0.47 0.76 0.5243 0.76 1 T . . . . . . 1.000 P . . . . . . . . . 0.405 6.198 1.6 0.477 -0.889 5.671 0.404708 NA NA 0.566298 0.730023 NA 0.514 NA 4.6960354 1190 3 58112440 58112440 A G exonic FLNB NA synonymous SNV FLNB:NM_001164317:exon24:c.A4173G:p.A1391A,FLNB:NM_001164318:exon24:c.A4173G:p.A1391A,FLNB:NM_001164319:exon24:c.A4173G:p.A1391A,FLNB:NM_001457:exon24:c.A4173G:p.A1391A exonic ENSG00000136068 NA synonymous SNV ENSG00000136068:ENST00000419752:exon23:c.A3666G:p.A1222A,ENSG00000136068:ENST00000493452:exon23:c.A3666G:p.A1222A,ENSG00000136068:ENST00000295956:exon24:c.A4173G:p.A1391A,ENSG00000136068:ENST00000348383:exon24:c.A4173G:p.A1391A,ENSG00000136068:ENST00000357272:exon24:c.A4173G:p.A1391A,ENSG00000136068:ENST00000358537:exon24:c.A4173G:p.A1391A,ENSG00000136068:ENST00000429972:exon24:c.A4173G:p.A1391A,ENSG00000136068:ENST00000490882:exon24:c.A4173G:p.A1391A Score=304;Name=lod=23 NA 3p14.3 NA NA NA NA rs2362903 0.81 0.81 0.814 0.833267 0.6213 0.998 0.7579 0.9402 0.7904 0.63 1 0.73 0.93 0.7079 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.7169 2.7169 NA 0.641744 0.889242 NA 0.906 NA 4.6957226 1190 19 7593589 7593589 C T exonic MCOLN1 NA synonymous SNV MCOLN1:NM_020533:exon8:c.C984T:p.N328N exonic ENSG00000090674 NA synonymous SNV ENSG00000090674:ENST00000264079:exon8:c.C984T:p.N328N NA NA 19p13.2 NA NA NA NA rs612862 0.25 0.25 0.248 0.255591 0.3479 0.1587 0.2219 0.2511 0.2904 0.34 0.12 0.25 0.25 0.2875 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.36786 NA NA 0.335581 0.236042 NA 0.319 NA 4.6956856 1190 12 70736113 70736113 A G intronic CNOT2 NA NA NA intronic ENSG00000111596 NA NA NA Score=645;Name=lod=559 NA 12q15 NA NA NA NA rs17108008 0.11 0.11 0.114 0.108626 0.1044 0.006 0.0778 0.2247 0.0838 0.11 0.01 0.1 0.23 0.0972 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.520601 1.520601 NA 0.103372 0.201316 NA 0.116 NA 4.695028 1191 16 84229580 84229580 C T exonic ADAD2 NA synonymous SNV ADAD2:NM_001145400:exon7:c.C1212T:p.A404A,ADAD2:NM_139174:exon8:c.C1458T:p.A486A exonic ENSG00000140955 NA synonymous SNV ENSG00000140955:ENST00000315906:exon7:c.C1212T:p.A404A,ENSG00000140955:ENST00000268624:exon8:c.C1458T:p.A486A NA NA 16q24.1 NA NA NA NA rs2303239 0.3 0.3 0.293 0.290136 0.325 0.2421 0.4352 0.1793 0.3507 0.34 0.3 0.38 0.16 0.3322 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.307162 NA NA 0.314845 0.211197 NA 0.174 NA 4.6946216 1191 7 2578237 2578237 T C exonic BRAT1 NA synonymous SNV BRAT1:NM_152743:exon14:c.A1932G:p.R644R exonic ENSG00000106009 NA synonymous SNV ENSG00000106009:ENST00000340611:exon14:c.A1932G:p.R644R NA NA 7p22.3 NA NA NA NA rs4719552 0.45 0.45 0.375 0.460863 0.3519 0.3671 0.4121 0.7322 0.3374 0.35 0.39 0.39 0.7 0.399 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 0.2504 NA NA 0.221227 0.612065 NA 0.304 NA 4.6945396 1191 2 178402786 178402786 G T intronic AGPS NA NA NA intronic ENSG00000018510 NA NA NA Score=803;Name=lod=2444 NA 2q31.2 NA NA NA NA rs3213945 0.15 0.15 0.139 0.135982 0.0974 0.3125 0.0735 0.0522 0.1513 0.09 0.35 0.08 0.05 0.115 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.456514 1.456514 NA 0.09314 0.051521 NA 0.094 NA 4.69446 1191 1 29641846 29641846 C T intronic PTPRU NA NA NA intronic ENSG00000060656 NA NA NA NA NA 1p35.3 Score=760;Name=V$HTF_01 NA NA NA rs35816572 0.08 0.08 0.078 0.0730831 0.1193 0.004 0.0533 0.0862 0.093 0.13 NA 0.07 0.11 0.0917 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.993419 NA NA 0.094767 0.087835 NA 0.065 NA 4.694233 1191 19 44891784 44891784 T C exonic ZNF285 NA nonsynonymous SNV ZNF285:NM_152354:exon4:c.A623G:p.N208S exonic ENSG00000267508 NA nonsynonymous SNV ENSG00000267508:ENST00000330997:exon4:c.A623G:p.N208S,ENSG00000267508:ENST00000544719:exon4:c.A623G:p.N208S,ENSG00000267508:ENST00000591679:exon5:c.A644G:p.N215S NA NA 19q13.31 NA NA NA NA rs2571089 0.76 0.76 0.76 0.709065 0.9095 0.6865 0.6369 0.553 0.7883 0.91 0.71 0.71 0.61 0.8262 0.91 0.15 T 0.008 B 0.004 B . . 1.000 P 0.515 N 1.66 T -1.063 T 0.000 T 0.016 -0.362 2.295 -0.924 -0.448 0.120 1.833 -0.361505 NA 0.49 0.903605 0.664321 NA 0.688 NA 4.6940284 1191 3 194062565 194062565 C T exonic CPN2 NA synonymous SNV CPN2:NM_001080513:exon2:c.G867A:p.P289P exonic ENSG00000178772 NA synonymous SNV ENSG00000178772:ENST00000323830:exon2:c.G867A:p.P289P,ENSG00000178772:ENST00000429275:exon2:c.G867A:p.P289P NA NA 3q29 Score=882;Name=V$FAC1_01 NA NA NA rs3732476 0.65 0.65 0.687 0.625799 0.666 0.6974 0.4957 0.612 0.6217 0.69 0.68 0.56 0.62 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 -1.327413 NA NA 0.666279 0.616205 NA 0.746 NA 4.6938876 1191 12 52307145 52307145 C T intronic ACVRL1 NA NA NA intronic ENSG00000139567 NA NA NA NA NA 12q13.13 NA Name=CTCF Name=13 NA rs2071218 0.4 0.4 0.419 0.43111 0.4404 0.2669 0.2651 0.5877 0.4969 0.44 0.27 0.28 0.56 0.4263 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.194685 NA NA 0.439419 0.53813 NA 0.435 NA 4.693881 1191 19 36038221 36038221 T C intronic TMEM147 NA NA NA UTR3 ENSG00000105677 ENST00000392205:c.*75T>C NA NA NA NA 19q13.12 Score=735;Name=V$PPARG_01 NA NA NA rs759996 0.2 0.2 0.162 0.202476 0.1382 0.3681 0.33 0.0083 0.2699 0.14 0.39 0.3 0.02 0.1946 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639637 NA NA 0.14 0.032683 NA 0.203 NA 4.6938667 1191 1 29641865 29641865 G A intronic PTPRU NA NA NA intronic ENSG00000060656 NA NA NA NA NA 1p35.3 Score=792;Name=V$XBP1_01 NA NA NA rs35918836 0.08 0.08 0.078 0.0730831 0.1193 0.004 0.0533 0.0862 0.093 0.13 NA 0.07 0.11 0.0918 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16984 NA NA 0.095116 0.088062 NA 0.065 NA 4.693784 1191 9 120053776 120053776 T C exonic ASTN2 NA synonymous SNV ASTN2:NM_014010:exon2:c.A459G:p.A153A exonic ENSG00000148219 NA synonymous SNV ENSG00000148219:ENST00000313400:exon2:c.A459G:p.A153A,ENSG00000148219:ENST00000361209:exon2:c.A459G:p.A153A,ENSG00000148219:ENST00000373996:exon2:c.A459G:p.A153A NA NA 9q33.1 Score=841;Name=V$AP4_01 NA NA Score=152;Name=2470386_0_-_152 rs7848630 0.97 0.97 0.966 0.964657 0.994 0.9891 0.9813 0.8949 0.9918 0.99 1 0.98 0.9 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 1.204053 NA NA 0.99314 0.914208 NA 0.833 NA 4.6936266 1191 9 140250818 140250818 C T exonic EXD3 NA nonsynonymous SNV EXD3:NM_017820:exon8:c.G659A:p.R220Q exonic ENSG00000187609 NA nonsynonymous SNV ENSG00000187609:ENST00000491734:exon2:c.G143A:p.R48Q,ENSG00000187609:ENST00000340951:exon8:c.G659A:p.R220Q NA NA 9q34.3 NA NA NA NA rs7389423 0.92 0.92 0.942 0.920727 0.8678 0.998 0.879 0.9077 0.9427 0.88 1 0.88 0.92 0.8894 1 1 T 0.005 B 0.0 B 0.407 N 0.820 P -1.085 N 0.69 T -0.984 T 0.000 T 0.049 -1.251 0.051 -0.144 -0.568 -0.788 7.092 -1.250896 NA 1 0.882626 0.910896 NA 0.855 NA 4.6935074 1191 X 57405163 57405163 T C exonic FAAH2 NA synonymous SNV FAAH2:NM_174912:exon6:c.T822C:p.R274R exonic ENSG00000165591 NA synonymous SNV ENSG00000165591:ENST00000374900:exon6:c.T822C:p.R274R Score=459;Name=lod=98 NA Xp11.21 NA NA NA NA rs4826543 0.93 0.93 0.91812 NA NA NA NA NA NA 1 1 0.95 0.71 0.974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.59302 NA NA 0.999405 0.758018 NA 0.667 NA 4.6932616 1191 18 59166541 59166541 C T exonic CDH20 NA synonymous SNV CDH20:NM_031891:exon2:c.C369T:p.D123D exonic ENSG00000101542 NA synonymous SNV ENSG00000101542:ENST00000536675:exon2:c.C369T:p.D123D,ENSG00000101542:ENST00000262717:exon3:c.C369T:p.D123D,ENSG00000101542:ENST00000538374:exon3:c.C369T:p.D123D Score=475;Name=lod=114 NA 18q21.33 NA NA NA NA rs12964819 0.59 0.59 0.607 0.622204 0.6531 0.5417 0.5576 0.6157 0.728 0.63 0.54 0.59 0.58 0.6538 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 1.218793 NA NA 0.666628 0.644122 NA 0.5 NA 4.6931386 1191 17 39881289 39881289 G C exonic HAP1 NA nonsynonymous SNV HAP1:NM_001079870:exon10:c.C1473G:p.F491L,HAP1:NM_001079871:exon10:c.C1449G:p.F483L,HAP1:NM_177977:exon11:c.C1524G:p.F508L exonic ENSG00000173805 NA nonsynonymous SNV ENSG00000173805:ENST00000442364:exon1:c.C105G:p.F35L,ENSG00000173805:ENST00000458656:exon1:c.C45G:p.F15L,ENSG00000173805:ENST00000341193:exon10:c.C1473G:p.F491L,ENSG00000173805:ENST00000393939:exon10:c.C1449G:p.F483L,ENSG00000173805:ENST00000347901:exon11:c.C1524G:p.F508L,ENSG00000173805:ENST00000310778:exon12:c.C1680G:p.F560L NA NA 17q21.2 NA NA NA NA rs8075017 0.88 0.88 0.9 0.896565 0.8917 0.8968 0.8285 0.9054 0.9376 0.89 0.89 0.85 0.89 0.8668 0.92 1 T 0.0 B 0.0 B 0.715 N 1.000 P -0.805 N 3.91 T -0.960 T 0.000 T 0.043 -1.171 0.088 -1.63 -0.568 -0.471 0.225 -1.171146 NA 0.57 0.881977 0.917385 NA 0.891 NA 4.6928564 1191 14 105349388 105349388 A C exonic CEP170B NA synonymous SNV CEP170B:NM_015005:exon7:c.A384C:p.P128P,CEP170B:NM_001112726:exon8:c.A594C:p.P198P exonic ENSG00000099814 NA synonymous SNV ENSG00000099814:ENST00000418279:exon7:c.A384C:p.P128P,ENSG00000099814:ENST00000556508:exon7:c.A384C:p.P128P,ENSG00000099814:ENST00000414716:exon8:c.A594C:p.P198P,ENSG00000099814:ENST00000453495:exon8:c.A597C:p.P199P NA Name=IgG glycosylation 14q32.33 NA NA NA NA rs2028414 0.5 0.5 0.459 0.516973 0.669 0.2302 0.5865 0.5174 0.6063 0.67 0.21 0.6 0.51 0.6474 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 0.535965 NA NA 0.657446 0.527146 NA 0.558 NA 4.6928206 1191 18 13056333 13056333 C T exonic CEP192 NA synonymous SNV CEP192:NM_032142:exon19:c.C3744T:p.H1248H exonic ENSG00000101639 NA synonymous SNV ENSG00000101639:ENST00000430049:exon9:c.C2319T:p.H773H,ENSG00000101639:ENST00000510237:exon10:c.C2544T:p.H848H,ENSG00000101639:ENST00000589596:exon16:c.C2967T:p.H989H,ENSG00000101639:ENST00000325971:exon17:c.C1956T:p.H652H,ENSG00000101639:ENST00000506447:exon19:c.C3744T:p.H1248H NA NA 18p11.21 NA NA NA NA rs2282541 0.29 0.29 0.277 0.246206 0.34 0.1835 0.3905 0.1974 0.1779 0.35 0.21 0.38 0.23 0.3025 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.269783 NA NA 0.331628 0.220154 NA 0.232 NA 4.6925386 1191 11 125871735 125871735 C T exonic CDON NA synonymous SNV CDON:NM_001243597:exon11:c.G2037A:p.A679A,CDON:NM_016952:exon11:c.G2037A:p.A679A exonic ENSG00000064309 NA synonymous SNV ENSG00000064309:ENST00000531738:exon2:c.G168A:p.A56A,ENSG00000064309:ENST00000263577:exon11:c.G2037A:p.A679A,ENSG00000064309:ENST00000392693:exon11:c.G2037A:p.A679A NA NA 11q24.2 NA NA NA NA rs516664 0.31 0.31 0.301 0.302516 0.337 0.1617 0.3415 0.4017 0.2505 0.35 0.16 0.3 0.43 0.3127 0.43 NA NA 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 0.324843 0.385507 ID=COSM147374;OCCURENCE=1(stomach) 0.246 NA 4.6921236 1191 11 47298360 47298360 G A exonic MADD NA synonymous SNV MADD:NM_001135943:exon5:c.G1041A:p.E347E,MADD:NM_001135944:exon5:c.G1041A:p.E347E,MADD:NM_003682:exon5:c.G1041A:p.E347E,MADD:NM_130470:exon5:c.G1041A:p.E347E,MADD:NM_130471:exon5:c.G1041A:p.E347E,MADD:NM_130472:exon5:c.G1041A:p.E347E,MADD:NM_130473:exon5:c.G1041A:p.E347E,MADD:NM_130474:exon5:c.G1041A:p.E347E,MADD:NM_130475:exon5:c.G1041A:p.E347E,MADD:NM_130476:exon5:c.G1041A:p.E347E exonic ENSG00000110514 NA synonymous SNV ENSG00000110514:ENST00000428807:exon3:c.G375A:p.E125E,ENSG00000110514:ENST00000311027:exon5:c.G1041A:p.E347E,ENSG00000110514:ENST00000342922:exon5:c.G1041A:p.E347E,ENSG00000110514:ENST00000349238:exon5:c.G1041A:p.E347E,ENSG00000110514:ENST00000395336:exon5:c.G1041A:p.E347E,ENSG00000110514:ENST00000395344:exon5:c.G1041A:p.E347E,ENSG00000110514:ENST00000402192:exon5:c.G1041A:p.E347E,ENSG00000110514:ENST00000402799:exon5:c.G1041A:p.E347E,ENSG00000110514:ENST00000406482:exon5:c.G1041A:p.E347E,ENSG00000110514:ENST00000407859:exon5:c.G1041A:p.E347E Score=642;Name=lod=540 NA 11p11.2 NA NA NA NA rs326214 0.51 0.51 0.519 0.470048 0.6899 0.2738 0.6369 0.3109 0.5429 0.69 0.31 0.6 0.39 0.5923 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 1.157946 NA NA 0.692415 0.360745 NA 0.645 NA 4.6920516 1191 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 1191 12 71898358 71898358 T C intronic LGR5 NA NA NA intronic ENSG00000139292 NA NA NA NA NA 12q21.1 NA NA Name=15 NA rs7307225 0.06 0.06 0.056 0.0662939 0.1044 0.003 0.0504 0.0817 0.0828 0.1 NA 0.05 0.06 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 -1.364532 NA NA 0.115465 0.087835 NA 0.196 NA 4.691835 1191 11 67263767 67263767 A G exonic PITPNM1 NA synonymous SNV PITPNM1:NM_001130848:exon15:c.T2196C:p.A732A,PITPNM1:NM_004910:exon15:c.T2199C:p.A733A exonic ENSG00000110697 NA synonymous SNV ENSG00000110697:ENST00000534749:exon14:c.T2199C:p.A733A,ENSG00000110697:ENST00000356404:exon15:c.T2199C:p.A733A,ENSG00000110697:ENST00000436757:exon15:c.T2196C:p.A732A Score=431;Name=lod=75 NA 11q13.2 Score=875;Name=V$COUP_01 NA NA NA rs618633 0.94 0.94 0.916 0.932308 0.999 0.9891 0.9841 0.761 1 1 0.98 0.98 0.76 0.9784 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.573362 NA NA 0.997555 0.786136 NA 0.899 NA 4.6917116 1191 17 77040185 77040185 G C exonic C1QTNF1 NA synonymous SNV C1QTNF1:NM_030968:exon2:c.G135C:p.S45S,C1QTNF1:NM_153372:exon2:c.G135C:p.S45S,C1QTNF1:NM_198593:exon2:c.G135C:p.S45S exonic ENSG00000173918 NA synonymous SNV ENSG00000173918:ENST00000580474:exon1:c.G135C:p.S45S,ENSG00000173918:ENST00000354124:exon2:c.G165C:p.S55S,ENSG00000173918:ENST00000392445:exon2:c.G135C:p.S45S,ENSG00000173918:ENST00000579760:exon2:c.G135C:p.S45S,ENSG00000173918:ENST00000581774:exon2:c.G135C:p.S45S,ENSG00000173918:ENST00000583904:exon2:c.G135C:p.S45S,ENSG00000173918:ENST00000339142:exon3:c.G135C:p.S45S,ENSG00000173918:ENST00000580454:exon3:c.G135C:p.S45S NA NA 17q25.3 NA NA NA NA rs4789853 0.41 0.41 0.425 0.459864 0.2883 0.5387 0.4928 0.5499 0.41 0.29 0.51 0.43 0.49 0.3899 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.319021 NA NA 0.296977 0.511348 NA 0.326 NA 4.6914896 1191 6 7229346 7229346 T C exonic RREB1 NA synonymous SNV RREB1:NM_001003698:exon10:c.T1014C:p.H338H,RREB1:NM_001003699:exon10:c.T1014C:p.H338H,RREB1:NM_001003700:exon10:c.T1014C:p.H338H,RREB1:NM_001168344:exon10:c.T1014C:p.H338H exonic ENSG00000124782 NA synonymous SNV ENSG00000124782:ENST00000334984:exon10:c.T1014C:p.H338H,ENSG00000124782:ENST00000349384:exon10:c.T1014C:p.H338H,ENSG00000124782:ENST00000379933:exon10:c.T1014C:p.H338H,ENSG00000124782:ENST00000379938:exon10:c.T1014C:p.H338H,ENSG00000124782:ENST00000483150:exon11:c.T1014C:p.H338H NA NA 6p24.3 NA NA NA NA rs2714315 0.4 0.4 0.433 0.408147 0.3419 0.2718 0.2147 0.792 0.2352 0.34 0.29 0.23 0.77 0.3274 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 -1.52412 NA NA 0.30593 0.694281 NA 0.413 NA 4.6914366 1191 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 1191 6 132910612 132910612 G A exonic TAAR5 NA synonymous SNV TAAR5:NM_003967:exon1:c.C214T:p.L72L exonic ENSG00000135569 NA synonymous SNV ENSG00000135569:ENST00000258034:exon1:c.C214T:p.L72L NA NA 6q23.2 Score=861;Name=V$CMYB_01 NA NA NA rs3813355 0.64 0.64 0.634 0.672923 0.665 0.5595 0.683 0.7277 0.7168 0.65 0.52 0.69 0.74 0.6585 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.500091 NA NA 0.652093 0.666364 ID=COSM1440545;OCCURENCE=1(large_intestine) 0.775 NA 4.6910736 1191 6 153365100 153365100 A C exonic RGS17 NA synonymous SNV RGS17:NM_012419:exon2:c.T54G:p.A18A exonic ENSG00000091844 NA synonymous SNV ENSG00000091844:ENST00000367225:exon1:c.T54G:p.A18A,ENSG00000091844:ENST00000206262:exon2:c.T54G:p.A18A NA NA 6q25.2 NA NA NA NA rs2295230 0.46 0.46 0.437 0.498203 0.2932 0.6319 0.379 0.6051 0.5112 0.29 0.59 0.38 0.62 0.3849 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.453658 NA NA 0.297791 0.550159 NA 0.406 NA 4.6907756 1191 5 112850963 112850963 G A intronic YTHDC2 NA NA NA intronic ENSG00000047188 NA NA NA NA NA 5q22.2 NA NA Name=2 NA rs1035409 0.09 0.09 0.076 0.0852636 0.1054 0.0298 0.036 0.1536 0.0644 0.11 0.04 0.03 0.14 0.0984 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.501091 NA NA 0.10549 0.128974 NA 0.174 NA 4.69071 1191 5 63509349 63509349 G A intronic RNF180 NA NA NA intronic ENSG00000164197 NA NA NA Score=278;Name=lod=18 NA 5q12.3 NA NA NA NA rs12519901 0.06 0.06 0.052 0.0782748 0.1034 0.002 0.0994 0.056 0.1462 0.1 0.0017 0.07 0.06 0.0992 0.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.40858 2.40858 NA 0.106844 0.059763 NA 0.123 NA 4.690556 1191 2 8178735 8178735 A G ncRNA_intronic LINC00299 NA NA NA ncRNA_intronic ENSG00000235665,ENSG00000236790 NA NA NA Score=289;Name=lod=20 NA 2p25.1 Score=892;Name=V$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 1191 20 62321655 62321655 G A exonic RTEL1 NA synonymous SNV RTEL1:NM_016434:exon26:c.G2274A:p.A758A,RTEL1:NM_032957:exon26:c.G2346A:p.A782A exonic ENSG00000026036,ENSG00000258366 NA nonsynonymous SNV ENSG00000026036:ENST00000492259:exon23:c.G2234A:p.R745H NA NA 20q13.33 NA Name=Pol2(phosphoS2) NA NA rs2236506 0.67 0.67 0.703 0.696086 0.7952 0.2897 0.7061 0.8971 0.7342 0.78 0.27 0.77 0.91 0.7411 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 0.669427 NA NA 0.773277 0.876481 NA 0.761 NA 4.690423 1191 14 50616878 50616878 G A exonic SOS2 NA synonymous SNV SOS2:NM_006939:exon14:c.C2232T:p.N744N exonic ENSG00000100485 NA synonymous SNV ENSG00000100485:ENST00000543680:exon13:c.C2133T:p.N711N,ENSG00000100485:ENST00000216373:exon14:c.C2232T:p.N744N Score=742;Name=lod=1379 NA 14q21.3 NA NA NA NA rs2229869 0.56 0.56 0.537 0.518371 0.67 0.4276 0.647 0.4024 0.5215 0.66 0.46 0.69 0.45 0.6215 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 0.679696 NA NA 0.684767 0.458012 NA 0.565 NA 4.6903996 1191 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=Max,c-Myc,IRF1,Sin3Ak-20,Mxi1_(bHLH),AP-2gamma,Egr-1,Pol2,USF2,USF-1,USF1_(SC-8983),E2F6_(H-50),Pol2-4H8,HEY1,ATF3,NF-E2 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 1191 9 742342 742342 A G exonic KANK1 NA synonymous SNV KANK1:NM_153186:exon9:c.A3360G:p.G1120G,KANK1:NM_015158:exon10:c.A3834G:p.G1278G,KANK1:NM_001256877:exon11:c.A3834G:p.G1278G,KANK1:NM_001256876:exon14:c.A3834G:p.G1278G exonic ENSG00000107104 NA synonymous SNV ENSG00000107104:ENST00000382286:exon5:c.A591G:p.G197G,ENSG00000107104:ENST00000382289:exon6:c.A834G:p.G278G,ENSG00000107104:ENST00000382293:exon9:c.A3360G:p.G1120G,ENSG00000107104:ENST00000382297:exon10:c.A3834G:p.G1278G,ENSG00000107104:ENST00000382303:exon14:c.A3834G:p.G1278G Score=476;Name=lod=115 NA 9p24.3 Score=930;Name=V$USF_C NA NA NA rs10733535 1 1 0.996 0.997604 0.9901 1 0.9971 1 1 0.99 1 0.99 1 0.9953 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.612242 NA NA 0.991047 0.997957 NA 0.993 NA 4.6902196 1191 11 31327316 31327316 C T exonic DCDC1 NA synonymous SNV DCDC1:NM_181807:exon6:c.G600A:p.E200E exonic ENSG00000170959 NA synonymous SNV ENSG00000170959:ENST00000597505:exon4:c.G600A:p.E200E,ENSG00000170959:ENST00000342355:exon6:c.G600A:p.E200E,ENSG00000170959:ENST00000452803:exon6:c.G600A:p.E200E Score=487;Name=lod=127 NA 11p13 NA NA NA NA rs2616815 0.66 0.66 0.671 0.679712 0.674 0.3839 0.7032 0.9357 0.6278 0.68 0.37 0.72 0.91 0.6515 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.182134 NA NA 0.651314 0.901907 NA 0.681 NA 4.6898526 1191 16 89199651 89199651 G A exonic ACSF3 NA synonymous SNV ACSF3:NM_001127214:exon7:c.G1347A:p.L449L,ACSF3:NM_001243279:exon8:c.G1347A:p.L449L,ACSF3:NM_174917:exon8:c.G1347A:p.L449L exonic ENSG00000176715 NA synonymous SNV ENSG00000176715:ENST00000378345:exon6:c.G552A:p.L184L,ENSG00000176715:ENST00000540697:exon6:c.G552A:p.L184L,ENSG00000176715:ENST00000544543:exon6:c.G552A:p.L184L,ENSG00000176715:ENST00000406948:exon7:c.G1347A:p.L449L,ENSG00000176715:ENST00000317447:exon8:c.G1347A:p.L449L NA NA 16q24.3 NA NA NA NA rs12447947 0.18 0.18 0.174 0.145367 0.3608 0.0109 0.2608 0.0295 0.137 0.34 0.01 0.31 0.05 0.2564 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.400438 NA NA 0.359884 0.072793 NA 0.225 NA 4.6895826 1191 12 32755259 32755259 G A intronic FGD4 NA NA NA intronic ENSG00000139132 NA NA NA NA NA 12p11.21 Score=763;Name=V$PPARA_01 NA NA NA rs12823621 0.06 0.06 0.037 0.0383387 0.1282 NA 0.0663 0.0053 0.0102 0.14 NA 0.07 0.02 0.0782 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.798315 NA NA 0.10407 0.015433 NA 0.072 NA 4.68953 1191 17 46670520 46670520 T C exonic HOXB5 NA synonymous SNV HOXB5:NM_002147:exon1:c.A525G:p.Q175Q exonic ENSG00000120075 NA synonymous SNV ENSG00000120075:ENST00000239151:exon1:c.A525G:p.Q175Q Score=654;Name=lod=608 NA 17q21.32 NA Name=SUZ12 NA NA rs7406798 0.94 0.94 0.909 0.936302 0.996 1 0.964 0.7806 1 1 1 0.96 0.76 0.982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.275558 NA NA 0.999535 0.816757 NA 0.913 NA 4.6891316 1191 5 126993249 126993249 G C exonic CTXN3 NA synonymous SNV CTXN3:NM_001048252:exon3:c.G36C:p.V12V,CTXN3:NM_001127385:exon3:c.G36C:p.V12V exonic ENSG00000205279 NA synonymous SNV ENSG00000205279:ENST00000379445:exon3:c.G36C:p.V12V,ENSG00000205279:ENST00000395322:exon3:c.G36C:p.V12V Score=352;Name=lod=36 NA 5q23.2 NA NA NA NA rs45074 0.66 0.66 0.652 0.650958 0.6551 0.6141 0.6037 0.7602 0.5706 0.64 0.61 0.64 0.75 0.6498 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 -0.995511 NA NA 0.672674 0.768951 NA 0.659 NA 4.6890926 1191 16 11374866 11374866 G T exonic PRM1 NA synonymous SNV PRM1:NM_002761:exon2:c.C139A:p.R47R exonic ENSG00000175646 NA synonymous SNV ENSG00000175646:ENST00000312511:exon2:c.C139A:p.R47R NA Name=Obesity-related traits 16p13.13 NA NA NA NA rs737008 0.51 0.51 0.521 0.487819 0.6809 0.3185 0.4308 0.503 0.4836 0.68 0.31 0.49 0.49 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 -0.193058 NA NA 0.702791 0.543924 ID=COSM1375814;OCCURENCE=1(large_intestine) 0.616 NA 4.6886756 1191 2 29152456 29152456 A G exonic WDR43 NA synonymous SNV WDR43:NM_015131:exon11:c.A1317G:p.E439E exonic ENSG00000163811 NA synonymous SNV ENSG00000163811:ENST00000407426:exon11:c.A1317G:p.E439E Score=432;Name=lod=76 NA 2p23.2 NA NA NA NA rs1140697 0.42 0.42 0.411 0.417732 0.6889 0.0704 0.4265 0.3601 0.5685 0.68 0.09 0.44 0.38 0.5701 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.004109 NA NA 0.718994 0.430245 NA 0.449 NA 4.6886726 1191 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 1191 11 7071031 7071031 G A exonic NLRP14 NA synonymous SNV NLRP14:NM_176822:exon6:c.G2253A:p.E751E exonic ENSG00000158077 NA synonymous SNV ENSG00000158077:ENST00000299481:exon6:c.G2253A:p.E751E Score=369;Name=lod=42 NA 11p15.4 Score=789;Name=V$ARP1_01 NA NA NA rs1552726 0.94 0.94 0.915 0.935104 0.999 1 0.9827 0.764 1 1 1 0.98 0.76 0.9802 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116604 NA NA 0.998836 0.794866 NA 0.971 NA 4.6886306 1191 22 36122517 36122517 T C exonic APOL5 NA synonymous SNV APOL5:NM_030642:exon3:c.T402C:p.L134L exonic ENSG00000128313 NA synonymous SNV ENSG00000128313:ENST00000249044:exon3:c.T402C:p.L134L NA NA 22q12.3 NA NA NA NA rs17723764 0.23 0.23 0.226 0.215655 0.3419 0.1389 0.2565 0.115 0.272 0.35 0.13 0.31 0.13 0.2962 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.486059 NA NA 0.34 0.143441 NA 0.225 NA 4.6885666 1191 11 113561057 113561057 A G exonic TMPRSS5 NA synonymous SNV TMPRSS5:NM_030770:exon11:c.T1102C:p.L368L exonic ENSG00000166682 NA synonymous SNV ENSG00000166682:ENST00000544476:exon8:c.T763C:p.L255L,ENSG00000166682:ENST00000536856:exon9:c.T325C:p.L109L,ENSG00000166682:ENST00000540540:exon9:c.T325C:p.L109L,ENSG00000166682:ENST00000544634:exon9:c.T895C:p.L299L,ENSG00000166682:ENST00000538955:exon10:c.T970C:p.L324L,ENSG00000166682:ENST00000299882:exon11:c.T1102C:p.L368L,ENSG00000166682:ENST00000545579:exon11:c.T1075C:p.L359L Score=522;Name=lod=176 NA 11q23.2 NA NA NA NA rs7110738 0.76 0.76 0.741 0.770168 0.6362 0.748 0.7594 0.9637 0.6769 0.63 0.76 0.76 0.96 0.6961 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 -0.06656 NA NA 0.646045 0.912683 NA 0.768 NA 4.6883216 1191 5 180430895 180430895 G A intronic BTNL3 NA NA NA intronic ENSG00000168903 NA NA NA NA NA 5q35.3 NA NA NA NA rs11954740 0.11 0.11 0.094 0.125799 0.0954 0.0952 0.0692 0.1755 0.1616 0.1 0.09 0.07 0.18 0.109 0.18 . . 0.019 B 0.005 B . . 1.000 P . . . . -1.010 T 0.000 T . 0.322 5.745 -1.87 -0.670 -0.478 4.544 0.321854 NA 0.44 0.107558 0.181571 NA 0.094 NA 4.688042 1191 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 1191 11 65810749 65810749 T C exonic GAL3ST3 NA synonymous SNV GAL3ST3:NM_033036:exon3:c.A525G:p.V175V exonic ENSG00000175229 NA synonymous SNV ENSG00000175229:ENST00000527878:exon2:c.A525G:p.V175V,ENSG00000175229:ENST00000312006:exon3:c.A525G:p.V175V Score=698;Name=lod=914 NA 11q13.1 Score=818;Name=V$PAX4_01 NA NA NA rs7937692 0.93 0.93 0.933 0.935903 1 0.881 0.9769 0.8623 0.9969 1 0.87 0.98 0.86 0.9798 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.942471 NA NA 0.999301 0.893003 NA 0.725 NA 4.6875656 1191 6 32151934 32151934 A G intronic AGER NA NA NA UTR5 ENSG00000204305 ENST00000375069:c.-551T>C NA NA NA NA 6p21.32 NA Name=Pol2,Pol2-4H8 NA NA rs3131300 0.12 0.12 0.112 0.136182 0.16 0.0942 0.0836 0.1354 0.1933 0.17 0.09 0.08 0.12 0.1398 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.650689 NA NA 0.179402 0.123097 NA 0.181 NA 4.6874647 1191 14 76224153 76224153 T A intronic TTLL5 NA NA NA intronic ENSG00000119685 NA NA NA Score=538;Name=lod=205 NA 14q24.3 NA Name=NFKB Name=5 NA rs2113577 0.71 0.71 0.696 0.703075 0.7753 0.5198 0.7997 0.7012 0.7515 0.78 0.57 0.81 0.7 0.7607 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 3.568135 3.568135 NA 0.776745 0.725457 NA 0.775 NA 4.687255 1191 3 134322742 134322742 A G exonic KY NA synonymous SNV KY:NM_178554:exon11:c.T1665C:p.L555L exonic ENSG00000174611 NA synonymous SNV ENSG00000174611:ENST00000508956:exon10:c.T1602C:p.L534L,ENSG00000174611:ENST00000423778:exon11:c.T1665C:p.L555L Score=395;Name=lod=54 NA 3q22.2 NA NA NA NA rs2293293 0.7 0.7 0.646 0.684105 0.668 0.8829 0.7507 0.5333 0.6524 0.67 0.86 0.71 0.52 0.672 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 -0.417731 NA NA 0.639504 0.558614 NA 0.565 NA 4.6871626 1191 14 21511458 21511458 G C exonic RNASE7 NA nonsynonymous SNV RNASE7:NM_032572:exon2:c.G307C:p.A103P exonic ENSG00000165799 NA nonsynonymous SNV ENSG00000165799:ENST00000298690:exon2:c.G307C:p.A103P,ENSG00000165799:ENST00000481538:exon2:c.G307C:p.A103P NA NA 14q11.2 NA NA NA NA rs1263872 0.78 0.78 0.848 0.826278 0.8936 0.8601 0.9236 0.7693 0.7301 0.79 0.81 0.87 0.64 0.868 0.88 1 T 0.0 B 0.0 B 0.301 N 1.000 P -0.91 N -0.63 T -0.984 T 0.000 T 0.055 -0.817 0.632 -1.48 -0.147 -0.151 5.277 -0.816691 NA 1 0.884767 0.800045 NA 0.862 NA 4.6869664 1191 15 60789798 60789798 G T exonic RORA NA synonymous SNV RORA:NM_134262:exon10:c.C1263A:p.T421T,RORA:NM_002943:exon11:c.C1503A:p.T501T,RORA:NM_134261:exon11:c.C1428A:p.T476T,RORA:NM_134260:exon12:c.C1527A:p.T509T exonic ENSG00000069667 NA synonymous SNV ENSG00000069667:ENST00000449337:exon10:c.C1263A:p.T421T,ENSG00000069667:ENST00000309157:exon11:c.C1503A:p.T501T,ENSG00000069667:ENST00000335670:exon11:c.C1428A:p.T476T,ENSG00000069667:ENST00000261523:exon12:c.C1527A:p.T509T Score=754;Name=lod=1549 NA 15q22.2 Score=792;Name=V$MEF2_03 NA NA NA rs11071539 0.96 0.96 0.952 0.940296 0.999 1 0.9755 0.7965 0.9877 1 1 0.98 0.83 0.9824 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.238187 NA NA 0.998721 0.832955 NA 0.928 NA 4.6865456 1191 1 22206942 22206942 G A exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon16:c.C2109T:p.A703A exonic ENSG00000142798 NA synonymous SNV ENSG00000142798:ENST00000374695:exon16:c.C2109T:p.A703A Score=597;Name=lod=356 NA 1p36.12 Score=690;Name=V$BRACH_01 NA NA NA rs1874793 0.95 0.95 0.937 0.929912 1 1 0.9784 0.7466 0.999 1 1 0.98 0.78 0.9812 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.253058 1.253058 NA 0.99907 0.810486 NA 0.913 NA 4.6863966 1191 9 130883511 130883511 C T exonic PTGES2 NA synonymous SNV PTGES2:NM_025072:exon7:c.G1047A:p.A349A,PTGES2:NM_001256335:exon8:c.G474A:p.A158A,PTGES2:NM_198938:exon8:c.G474A:p.A158A exonic ENSG00000148334 NA synonymous SNV ENSG00000148334:ENST00000338961:exon7:c.G1047A:p.A349A,ENSG00000148334:ENST00000277462:exon8:c.G474A:p.A158A Score=489;Name=lod=129 NA 9q34.11 NA NA Name=3 NA rs2040004 0.94 0.94 0.928 0.935104 1 1 0.9899 0.7602 0.999 1 1 0.99 0.73 0.9813 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449466 NA NA 0.99907 0.796136 NA 0.899 NA 4.6862966 1191 6 142718801 142718801 G A exonic GPR126 NA synonymous SNV GPR126:NM_001032394:exon9:c.G1392A:p.L464L,GPR126:NM_001032395:exon9:c.G1392A:p.L464L,GPR126:NM_020455:exon10:c.G1476A:p.L492L,GPR126:NM_198569:exon10:c.G1476A:p.L492L exonic ENSG00000112414 NA synonymous SNV ENSG00000112414:ENST00000296932:exon9:c.G1392A:p.L464L,ENSG00000112414:ENST00000367608:exon9:c.G1392A:p.L464L,ENSG00000112414:ENST00000230173:exon10:c.G1476A:p.L492L,ENSG00000112414:ENST00000367609:exon10:c.G1476A:p.L492L Score=321;Name=lod=27 NA 6q24.1 NA NA NA NA rs989946 1 1 0.996 0.996605 0.992 1 0.9957 0.9992 0.9949 1 1 1 1 0.9957 1 . . . . . . . . 0.000 P . . . . . . . . . -0.67 1.07 0.284 -0.048 0.184 11.397 -0.670187 NA NA 0.993127 0.998902 NA 0.761 NA 4.6858396 1191 4 57182758 57182758 C T exonic KIAA1211 NA synonymous SNV KIAA1211:NM_020722:exon8:c.C3090T:p.D1030D exonic ENSG00000109265 NA synonymous SNV ENSG00000109265:ENST00000504228:exon6:c.C3090T:p.D1030D,ENSG00000109265:ENST00000541073:exon7:c.C3069T:p.D1023D,ENSG00000109265:ENST00000264229:exon8:c.C3090T:p.D1030D NA NA 4q12 NA NA NA NA rs28559894 0.26 0.26 0.275 0.22524 0.341 0.254 0.2233 0.1407 0.1922 0.34 0.25 0.24 0.14 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 0.314479 NA NA 0.342768 0.168 ID=COSM447967;OCCURENCE=1(breast) 0.239 NA 4.6855986 1191 3 33107060 33107060 A G intronic GLB1 NA NA NA intronic ENSG00000170266 NA NA NA NA NA 3p22.3 NA NA NA NA rs34204221 0.07 0.07 0.053 0.0652955 0.0964 0.0208 0.0562 0.0908 0.0511 0.11 0.02 0.04 0.08 0.109 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 0.687531 NA NA 0.109122 0.093441 NA 0.029 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078716.1;CLNDSDB=.;CLNDSDBID=. 4.685478 1191 17 4497160 4497160 T C exonic SMTNL2 NA synonymous SNV SMTNL2:NM_001114974:exon4:c.T774C:p.Y258Y,SMTNL2:NM_198501:exon4:c.T342C:p.Y114Y exonic ENSG00000188176 NA synonymous SNV ENSG00000188176:ENST00000572951:exon2:c.T99C:p.Y33Y,ENSG00000188176:ENST00000338859:exon4:c.T342C:p.Y114Y,ENSG00000188176:ENST00000389313:exon4:c.T774C:p.Y258Y NA NA 17p13.2 NA Name=ERalpha_a NA NA rs8080130 0.69 0.69 0.65 0.682708 0.6441 0.8462 0.7709 0.5257 0.7035 0.64 0.84 0.73 0.56 0.6834 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 -1.265048 NA NA 0.653721 0.553563 NA 0.674 NA 4.6854456 1191 19 41116397 41116397 G A intronic LTBP4 NA NA NA intronic ENSG00000090006 NA NA NA NA NA 19q13.2 NA Name=Pol2 Name=31 NA rs1318544 0.46 0.46 0.436 0.513978 0.4384 0.4087 0.3559 0.708 0.5501 0.44 0.36 0.35 0.68 0.4756 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.27915 1.27915 NA 0.400576 0.617647 NA 0.442 NA 4.685424 1191 13 111156499 111156499 C T exonic COL4A2 NA synonymous SNV COL4A2:NM_001846:exon45:c.C4290T:p.F1430F exonic ENSG00000134871 NA synonymous SNV ENSG00000134871:ENST00000360467:exon45:c.C4290T:p.F1430F Score=317;Name=lod=26 NA 13q34 NA Name=Pol2,ELF1_(SC-631) NA NA rs4771683 0.84 0.84 0.93 0.935903 1 1 0.9841 0.7655 1 0.87 0.91 0.93 0.66 0.9833 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.50424 NA NA 0.998185 0.833419 NA 0.949 NA 4.6851816 1191 1 53553702 53553702 A G exonic SLC1A7 NA synonymous SNV SLC1A7:NM_006671:exon11:c.T1662C:p.S554S exonic ENSG00000162383 NA synonymous SNV ENSG00000162383:ENST00000371494:exon11:c.T1662C:p.S554S NA NA 1p32.3 NA Name=CTCF_(SC-5916),CTCF,Rad21 Name=6 NA rs1288400 0.96 0.96 0.94 0.942891 1 1 0.9942 0.7867 1 1 1 1 0.81 0.9828 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.722088 NA NA 0.998837 0.833409 NA 0.913 NA 4.6850296 1192 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 1192 14 105611282 105611282 A G exonic JAG2 NA synonymous SNV JAG2:NM_145159:exon23:c.T2955C:p.A985A,JAG2:NM_002226:exon24:c.T3069C:p.A1023A exonic ENSG00000184916 NA synonymous SNV ENSG00000184916:ENST00000347004:exon23:c.T2955C:p.A985A,ENSG00000184916:ENST00000331782:exon24:c.T3069C:p.A1023A NA NA 14q32.33 Score=792;Name=V$PAX5_01 NA NA NA rs2272591 0.68 0.68 0.666 0.676717 0.6581 0.502 0.6484 0.8918 0.6053 0.67 0.54 0.65 0.86 0.6664 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 -1.493057 NA NA 0.658116 0.836543 NA 0.783 NA 4.6840506 1192 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 1192 3 47462200 47462200 T C exonic SCAP NA synonymous SNV SCAP:NM_012235:exon12:c.A1407G:p.G469G exonic ENSG00000114650 NA synonymous SNV ENSG00000114650:ENST00000545718:exon7:c.A231G:p.G77G,ENSG00000114650:ENST00000441517:exon9:c.A642G:p.G214G,ENSG00000114650:ENST00000265565:exon12:c.A1407G:p.G469G Score=387;Name=lod=50 NA 3p21.31 NA Name=Pol2 NA NA rs900690 0.96 0.96 0.955 0.955072 0.998 1 0.9813 0.8411 1 1 1 0.98 0.84 0.9867 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.267786 NA NA 0.998371 0.857694 NA 0.928 NA 4.6835956 1192 X 8138080 8138080 G C exonic VCX2 NA nonsynonymous SNV VCX2:NM_016378:exon3:c.C413G:p.T138S exonic ENSG00000177504 NA nonsynonymous SNV ENSG00000177504:ENST00000317103:exon3:c.C413G:p.T138S NA NA Xp22.31 NA NA NA NA rs1058239 0.91 0.91 0.91574 NA NA NA NA NA NA 0.82 0.97 0.92 0.97 0.8437 0.97 1 T 0.002 B 0.0 B . . 1.000 P 0 N 2.45 T -0.973 T 0.000 T 0.014 -2.419 0.003 0.189 -0.759 -0.409 . -2.419037 NA 0 0.806384 0.944285 NA 0.609 NA 4.6832494 1192 11 55681336 55681336 G A exonic OR5W2 NA synonymous SNV OR5W2:NM_001001960:exon1:c.C723T:p.C241C exonic ENSG00000187612 NA synonymous SNV ENSG00000187612:ENST00000344514:exon1:c.C723T:p.C241C NA NA 11q11 NA NA NA NA rs11231529 0.29 0.29 0.305 0.263578 0.329 0.1438 0.3112 0.3434 0.1779 0.34 0.16 0.31 0.34 0.3046 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.639698 NA NA 0.349977 0.368015 NA 0.246 NA 4.6830896 1192 11 11373587 11373587 A G exonic CSNK2A3 NA synonymous SNV CSNK2A3:NM_001256686:exon1:c.T1080C:p.T360T exonic ENSG00000254598 NA synonymous SNV ENSG00000254598:ENST00000528848:exon1:c.T1080C:p.T360T Score=492;Name=lod=133 NA 11p15.3 NA NA NA NA rs7945066 0.96 0.96 0.954 0.951278 0.998 1 0.9856 0.8245 1 1 1 0.99 0.85 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 0.233916 NA NA NA NA NA 0.949 NA 4.6828666 1192 3 47454399 47454399 G A exonic PTPN23 NA synonymous SNV PTPN23:NM_015466:exon25:c.G4635A:p.P1545P exonic ENSG00000076201 NA synonymous SNV ENSG00000076201:ENST00000431726:exon24:c.G4257A:p.P1419P,ENSG00000076201:ENST00000265562:exon25:c.G4635A:p.P1545P Score=329;Name=lod=29 NA 3p21.31 Score=708;Name=V$HOX13_01 NA NA NA rs6789730 0.96 0.96 0.945 0.954673 0.998 1 0.9784 0.8434 0.9969 1 1 0.98 0.84 0.9872 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.136362 NA NA 0.998602 0.869021 NA 0.928 NA 4.6828646 1192 5 127648500 127648500 A G intronic FBN2 NA NA NA intronic ENSG00000138829 NA NA NA Score=235;Name=lod=12 NA 5q23.3 NA NA NA NA rs10044959 0.06 0.06 0.055 0.0535144 0.1133 0.0079 0.0663 0.0053 0.0951 0.12 0.01 0.09 0.01 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 0.364872 NA NA 0.118256 0.023604 NA 0.051 NA 4.682644 1192 17 62125272 62125272 A G exonic ERN1 NA synonymous SNV ERN1:NM_001433:exon19:c.T2475C:p.H825H exonic ENSG00000178607 NA synonymous SNV ENSG00000178607:ENST00000433197:exon19:c.T2475C:p.H825H NA NA 17q23.3 Score=912;Name=V$USF_02 NA Name=5 NA rs196923 0.96 0.96 0.952 0.951478 0.998 1 0.9813 0.8275 1 1 1 0.98 0.84 0.9873 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.922474 NA NA 0.999154 0.865365 NA 0.928 NA 4.6822126 1192 10 445061 445061 C T exonic DIP2C NA synonymous SNV DIP2C:NM_014974:exon10:c.G1248A:p.P416P exonic ENSG00000151240 NA synonymous SNV ENSG00000151240:ENST00000280886:exon10:c.G1248A:p.P416P,ENSG00000151240:ENST00000381496:exon11:c.G927A:p.P309P Score=511;Name=lod=159 NA 10p15.3 NA Name=Rad21,CTCF NA NA rs6560837 0.98 0.98 0.983 0.979433 0.998 0.9861 0.9942 0.938 0.999 1 0.98 0.99 0.94 0.9901 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.339007 1.339007 NA 0.996744 0.933273 NA 0.971 NA 4.6818226 1192 1 89225976 89225976 T C exonic PKN2 NA synonymous SNV PKN2:NM_006256:exon3:c.T421C:p.L141L exonic ENSG00000065243 NA synonymous SNV ENSG00000065243:ENST00000316005:exon3:c.T421C:p.L141L,ENSG00000065243:ENST00000370513:exon3:c.T421C:p.L141L,ENSG00000065243:ENST00000370521:exon3:c.T421C:p.L141L Score=669;Name=lod=701 NA 1p22.2 NA NA NA NA rs430600 0.71 0.71 0.706 0.750599 0.6561 0.6498 0.5807 0.9304 0.8292 0.68 0.63 0.64 0.9 0.6929 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018398 NA NA 0.63614 0.893212 NA 0.79 NA 4.6815266 1192 1 22217108 22217108 G A exonic HSPG2 NA synonymous SNV HSPG2:NM_005529:exon4:c.C324T:p.F108F exonic ENSG00000142798 NA synonymous SNV ENSG00000142798:ENST00000439717:exon3:c.C222T:p.F74F,ENSG00000142798:ENST00000374695:exon4:c.C324T:p.F108F Score=521;Name=lod=175 NA 1p36.12 Score=852;Name=V$STAT5A_01 NA NA NA rs2501260 0.96 0.96 0.957 0.948083 1 1 0.9798 0.8139 1 1 1 0.97 0.86 0.9861 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.499101 1.499101 NA 0.99907 0.865411 NA 0.928 NA 4.6814966 1192 16 1306671 1306671 G A exonic TPSD1 NA synonymous SNV TPSD1:NM_012217:exon2:c.G237A:p.A79A exonic ENSG00000095917 NA synonymous SNV ENSG00000095917:ENST00000211076:exon2:c.G237A:p.A79A,ENSG00000095917:ENST00000397534:exon3:c.G216A:p.A72A NA NA 16p13.3 NA NA NA NA rs1141966 0.4 0.4 0.392 0.444289 0.3211 0.7946 0.3012 0.3351 0.4591 0.3 0.68 0.26 0.32 0.3692 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257077 NA NA 0.294905 0.322874 NA 0.159 NA 4.6814616 1192 13 41517985 41517985 A G exonic ELF1 NA synonymous SNV ELF1:NM_001145353:exon5:c.T534C:p.D178D,ELF1:NM_172373:exon6:c.T606C:p.D202D exonic ENSG00000120690 NA synonymous SNV ENSG00000120690:ENST00000442101:exon5:c.T534C:p.D178D,ENSG00000120690:ENST00000239882:exon6:c.T606C:p.D202D Score=553;Name=lod=236 NA 13q14.11 NA NA NA NA rs3764056 0.44 0.44 0.38 0.413538 0.7097 0.1538 0.6657 0.152 0.5511 0.73 0.16 0.63 0.17 0.5972 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 1.063139 NA NA 0.678837 0.221516 NA 0.478 NA 4.6809296 1192 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 1192 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 1192 19 44470548 44470548 A G exonic ZNF221 NA synonymous SNV ZNF221:NM_013359:exon6:c.A894G:p.Q298Q exonic ENSG00000159905 NA synonymous SNV ENSG00000159905:ENST00000587682:exon5:c.A894G:p.Q298Q,ENSG00000159905:ENST00000251269:exon6:c.A894G:p.Q298Q,ENSG00000159905:ENST00000592350:exon6:c.A894G:p.Q298Q NA NA 19q13.31 NA Name=KAP1,SETDB1 Name=9 NA rs453640 0.96 0.96 0.955 0.961262 1 1 0.9841 0.8616 1 1 1 0.98 0.84 0.9874 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.421299 1.421299 NA 0.998837 0.873128 NA 0.942 NA 4.6804296 1192 10 12148286 12148286 T C exonic DHTKD1 NA synonymous SNV DHTKD1:NM_018706:exon11:c.T1938C:p.F646F exonic ENSG00000181192 NA synonymous SNV ENSG00000181192:ENST00000263035:exon11:c.T1938C:p.F646F Score=565;Name=lod=264 NA 10p14 Score=841;Name=V$OCT1_01 NA NA NA rs1615510 0.96 0.96 0.948 0.964058 0.999 1 0.9899 0.8699 1 1 1 1 0.84 0.9888 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301125 NA NA 0.999302 0.881752 NA 0.935 NA 4.6795646 1192 1 156536251 156536251 T C exonic IQGAP3 NA synonymous SNV IQGAP3:NM_178229:exon3:c.A213G:p.L71L exonic ENSG00000183856 NA synonymous SNV ENSG00000183856:ENST00000491900:exon2:c.A84G:p.L28L,ENSG00000183856:ENST00000361170:exon3:c.A213G:p.L71L Score=653;Name=lod=603 NA 1q23.1 Score=813;Name=V$SRF_C NA NA NA rs947662 0.97 0.97 0.968 0.959864 1 1 0.9885 0.854 1 1 1 0.99 0.88 0.9878 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.513171 1.513171 NA 0.999651 0.87517 NA 0.971 NA 4.6792156 1192 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 1192 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 1192 1 155294274 155294274 A G exonic RUSC1 NA synonymous SNV RUSC1:NM_001105205:exon1:c.A66G:p.L22L exonic ENSG00000160753 NA synonymous SNV ENSG00000160753:ENST00000368347:exon1:c.A66G:p.L22L NA NA 1q22 NA Name=TBP,CCNT2,Egr-1,YY1,Sin3Ak-20,PAX5-C20,Mxi1_(bHLH),YY1_(C-20),Max,SP1,IRF1,NF-E2_(H-230),HEY1,ELF1_(SC-631),ATF3,HMGN3,TAF1,Pol2-4H8,p300,E2F6_(H-50),E2F6,USF-1,Pol2(phosphoS2),USF2,Pol2,HA-E2F1,CHD2_(N-1250),USF1_(SC-8983) Name=147 NA rs914616 0.96 0.96 0.946 0.948283 1 1 0.9827 0.8132 1 1 1 0.98 0.82 0.9886 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.031017 NA NA 0.999253 0.86381 NA 0.964 NA 4.6788136 1192 1 237881770 237881770 C T exonic RYR2 NA synonymous SNV RYR2:NM_001035:exon73:c.C10503T:p.T3501T exonic ENSG00000198626 NA synonymous SNV ENSG00000198626:ENST00000542537:exon72:c.C10455T:p.T3485T,ENSG00000198626:ENST00000366574:exon73:c.C10503T:p.T3501T,ENSG00000198626:ENST00000360064:exon74:c.C10497T:p.T3499T NA NA 1q43 Score=871;Name=V$ELK1_01 NA NA NA rs2797441 0.97 0.97 0.964 0.960463 1 1 0.9899 0.8555 1 1 1 0.98 0.86 0.9886 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.864438 NA NA 0.999511 0.877446 NA 0.942 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000036650.2;CLNDSDB=.;CLNDSDBID=. 4.6785556 1192 15 52689526 52689526 T C exonic MYO5A NA synonymous SNV MYO5A:NM_000259:exon10:c.A1191G:p.T397T,MYO5A:NM_001142495:exon10:c.A1191G:p.T397T exonic ENSG00000197535 NA synonymous SNV ENSG00000197535:ENST00000356338:exon10:c.A1191G:p.T397T,ENSG00000197535:ENST00000358212:exon10:c.A1191G:p.T397T,ENSG00000197535:ENST00000399231:exon10:c.A1191G:p.T397T,ENSG00000197535:ENST00000399233:exon10:c.A1191G:p.T397T,ENSG00000197535:ENST00000553916:exon10:c.A1191G:p.T397T Score=537;Name=lod=203 NA 15q21.2 Score=798;Name=V$SRF_C NA NA NA rs2924130 0.97 0.97 0.962 0.961661 0.999 1 0.9928 0.8593 1 1 1 0.99 0.87 0.9896 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.007426 NA NA 0.999761 0.887224 NA 0.986 NA 4.6783056 1192 1 86852621 86852621 A G exonic ODF2L NA synonymous SNV ODF2L:NM_001007022:exon2:c.T90C:p.C30C,ODF2L:NM_001184765:exon2:c.T90C:p.C30C,ODF2L:NM_001184766:exon2:c.T90C:p.C30C,ODF2L:NM_020729:exon2:c.T90C:p.C30C exonic ENSG00000122417 NA synonymous SNV ENSG00000122417:ENST00000294678:exon2:c.T90C:p.C30C,ENSG00000122417:ENST00000317336:exon2:c.T90C:p.C30C,ENSG00000122417:ENST00000359242:exon2:c.T90C:p.C30C,ENSG00000122417:ENST00000370566:exon2:c.T90C:p.C30C,ENSG00000122417:ENST00000370567:exon2:c.T90C:p.C30C,ENSG00000122417:ENST00000478286:exon2:c.T90C:p.C30C,ENSG00000122417:ENST00000486215:exon2:c.T90C:p.C30C,ENSG00000122417:ENST00000488879:exon2:c.T90C:p.C30C NA NA 1p22.3 NA NA NA NA rs2390096 0.32 0.32 0.302 0.314696 0.3181 0.4167 0.2637 0.2352 0.3497 0.33 0.42 0.29 0.23 0.3304 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.993815 NA NA 0.339884 0.268271 ID=COSM146551;OCCURENCE=1(stomach) 0.239 NA 4.6782826 1192 15 56387931 56387931 C T exonic RFX7 NA synonymous SNV RFX7:NM_022841:exon9:c.G1995A:p.Q665Q exonic ENSG00000181827 NA synonymous SNV ENSG00000181827:ENST00000559847:exon7:c.G1704A:p.Q568Q,ENSG00000181827:ENST00000317318:exon9:c.G1995A:p.Q665Q,ENSG00000181827:ENST00000422057:exon9:c.G1704A:p.Q568Q,ENSG00000181827:ENST00000423270:exon9:c.G1995A:p.Q665Q,ENSG00000181827:ENST00000559447:exon9:c.G1704A:p.Q568Q Score=519;Name=lod=172 NA 15q21.3 Score=798;Name=V$MYCMAX_03 NA NA NA rs11071247 0.97 0.97 0.973 0.96246 0.999 1 0.9928 0.8623 1 1 1 0.99 0.89 0.9899 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073231 NA NA 0.999512 0.88146 NA 0.942 NA 4.6782546 1192 14 88945591 88945591 A G exonic PTPN21 NA synonymous SNV PTPN21:NM_007039:exon13:c.T2184C:p.P728P exonic ENSG00000070778 NA synonymous SNV ENSG00000070778:ENST00000328736:exon12:c.T2184C:p.P728P,ENSG00000070778:ENST00000556564:exon13:c.T2184C:p.P728P NA NA 14q31.3 NA NA NA NA rs879932 0.37 0.37 0.341 0.395567 0.2962 0.38 0.2781 0.5234 0.4243 0.31 0.36 0.28 0.52 0.3545 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.429279 NA NA 0.337913 0.503179 NA 0.254 NA 4.6780536 1192 5 161119071 161119071 G T exonic GABRA6 NA synonymous SNV GABRA6:NM_000811:exon8:c.G951T:p.A317A exonic ENSG00000145863 NA synonymous SNV ENSG00000145863:ENST00000274545:exon8:c.G951T:p.A317A,ENSG00000145863:ENST00000523217:exon8:c.G921T:p.A307A Score=658;Name=lod=628 NA 5q34 Score=785;Name=V$EVI1_01 NA NA NA rs12522663 0.97 0.97 0.976 0.968251 0.999 0.999 0.9813 0.8911 1 1 1 0.98 0.9 0.9902 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.143193 NA NA 0.999535 0.899001 NA 1 NA 4.6779316 1192 5 161128761 161128761 C G exonic GABRA6 NA synonymous SNV GABRA6:NM_000811:exon9:c.C1344G:p.V448V exonic ENSG00000145863 NA synonymous SNV ENSG00000145863:ENST00000274545:exon9:c.C1344G:p.V448V,ENSG00000145863:ENST00000523217:exon9:c.C1314G:p.V438V Score=409;Name=lod=61 NA 5q34 NA NA NA NA rs4277944 0.97 0.97 0.968 NA NA NA NA NA NA 1 1 0.98 0.88 0.9893 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.167641 NA NA 0.999535 0.888788 NA 0.993 NA 4.6778316 1192 10 79566632 79566632 G A exonic DLG5 NA synonymous SNV DLG5:NM_004747:exon26:c.C4851T:p.D1617D exonic ENSG00000151208 NA synonymous SNV ENSG00000151208:ENST00000424842:exon14:c.C1734T:p.D578D,ENSG00000151208:ENST00000372388:exon25:c.C3831T:p.D1277D,ENSG00000151208:ENST00000372391:exon26:c.C4851T:p.D1617D NA NA 10q22.3 NA NA NA NA rs1058198 0.28 0.28 0.284 0.26258 0.339 0.1736 0.2392 0.2466 0.3139 0.32 0.2 0.28 0.31 0.3038 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.80099 NA NA 0.346279 0.267817 NA 0.326 NA 4.6775876 1192 11 111420364 111420364 A G exonic LAYN NA synonymous SNV LAYN:NM_178834:exon3:c.A405G:p.P135P,LAYN:NM_001258390:exon4:c.A429G:p.P143P exonic ENSG00000204381 NA synonymous SNV ENSG00000204381:ENST00000375614:exon3:c.A405G:p.P135P,ENSG00000204381:ENST00000533265:exon3:c.A405G:p.P135P,ENSG00000204381:ENST00000375615:exon4:c.A429G:p.P143P,ENSG00000204381:ENST00000525126:exon4:c.A429G:p.P143P NA NA 11q23.1 Score=793;Name=V$BACH1_01 NA Name=41 NA rs634679 0.97 0.97 0.974 0.963858 1 0.999 0.9841 0.8722 1 1 1 0.99 0.89 0.9894 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873185 NA NA 0.999767 0.889368 NA 0.957 NA 4.6774996 1192 12 9094548 9094548 A G intronic M6PR NA NA NA intronic ENSG00000003056 NA NA NA NA NA 12p13.31 NA Name=ZNF263,Pol2 Name=4 NA rs1805765 0.37 0.37 0.34 0.349441 0.4384 0.4335 0.3775 0.1104 0.4744 0.45 0.49 0.36 0.11 0.4325 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.702648 NA NA 0.452093 0.142079 NA 0.442 NA 4.677007 1192 19 48389425 48389425 A G exonic SULT2A1 NA synonymous SNV SULT2A1:NM_003167:exon1:c.T90C:p.F30F exonic ENSG00000105398 NA synonymous SNV ENSG00000105398:ENST00000222002:exon1:c.T90C:p.F30F NA NA 19q13.33 NA Name=TBP,TAF1,HEY1,KAP1 Name=7 NA rs11083907 0.98 0.98 0.975 0.973842 0.998 1 0.9813 0.9123 1 1 1 0.97 0.93 0.9928 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.018242 NA NA 0.999302 0.934408 NA 0.978 NA 4.6765646 1192 5 57754004 57754004 C T intronic PLK2 NA NA NA intronic ENSG00000145632 NA NA NA NA NA 5q11.2 Score=912;Name=V$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 1192 18 56196492 56196492 G A intronic ALPK2 NA NA NA intronic ENSG00000198796 NA NA NA Score=272;Name=lod=17 NA 18q21.31 NA NA NA NA rs10451415 0.17 0.17 0.172 0.182907 0.1024 0.1915 0.2205 0.233 0.1626 0.11 0.17 0.18 0.25 0.1278 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.088836 3.088836 NA 0.093605 0.204494 NA 0.174 NA 4.676195 1192 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 1192 3 126737268 126737268 C A exonic PLXNA1 NA synonymous SNV PLXNA1:NM_032242:exon19:c.C3792A:p.L1264L exonic ENSG00000114554 NA synonymous SNV ENSG00000114554:ENST00000251772:exon19:c.C3723A:p.L1241L,ENSG00000114554:ENST00000393409:exon19:c.C3792A:p.L1264L Score=510;Name=lod=157 NA 3q21.3 NA NA NA NA rs4679323 0.56 0.56 0.505 0.541534 0.662 0.6042 0.6066 0.3298 0.593 0.67 0.55 0.66 0.32 0.6394 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 0.063749 NA NA 0.689419 0.427599 NA 0.478 NA 4.6758476 1192 5 150947719 150947719 C T exonic FAT2 NA synonymous SNV FAT2:NM_001447:exon1:c.G774A:p.S258S exonic ENSG00000086570 NA synonymous SNV ENSG00000086570:ENST00000261800:exon1:c.G774A:p.S258S NA NA 5q33.1 NA NA NA NA rs3734060 0.44 0.44 0.409 NA NA NA NA NA NA 0.48 0.35 0.45 0.48 0.4683 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.567377 NA NA 0.522791 0.44394 ID=COSM1435330;OCCURENCE=1(large_intestine) 0.435 NA 4.6755756 1192 18 61170925 61170925 T C exonic SERPINB5 NA synonymous SNV SERPINB5:NM_002639:exon7:c.T1098C:p.I366I exonic ENSG00000206075 NA synonymous SNV ENSG00000206075:ENST00000382771:exon7:c.T1098C:p.I366I Score=558;Name=lod=248 NA 18q21.33 NA Name=Pol2(b) NA NA rs8093128 1 1 0.999 0.999401 0.998 1 0.9986 1 1 1 1 1 1 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 0.263149 NA NA 0.995581 0.999092 NA 1 NA 4.6754856 1192 2 179629363 179629363 T C exonic TTN NA synonymous SNV TTN:NM_003319:exon41:c.A9741G:p.E3247E,TTN:NM_133432:exon41:c.A9741G:p.E3247E,TTN:NM_133437:exon41:c.A9741G:p.E3247E,TTN:NM_001256850:exon42:c.A9879G:p.E3293E,TTN:NM_001267550:exon42:c.A9879G:p.E3293E,TTN:NM_133378:exon42:c.A9879G:p.E3293E,TTN:NM_133379:exon42:c.A9879G:p.E3293E exonic ENSG00000155657 NA synonymous SNV ENSG00000155657:ENST00000342175:exon41:c.A9741G:p.E3247E,ENSG00000155657:ENST00000359218:exon41:c.A9741G:p.E3247E,ENSG00000155657:ENST00000460472:exon41:c.A9741G:p.E3247E,ENSG00000155657:ENST00000342992:exon42:c.A9879G:p.E3293E,ENSG00000155657:ENST00000360870:exon42:c.A9879G:p.E3293E,ENSG00000155657:ENST00000589042:exon42:c.A9879G:p.E3293E,ENSG00000155657:ENST00000591111:exon42:c.A9879G:p.E3293E Score=446;Name=lod=87 NA 2q31.2 NA NA NA NA rs4894043 0.98 0.98 0.97 0.973642 1 1 0.9942 0.9032 1 1 1 1 0.91 0.9921 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178849 NA NA 0.999186 0.913981 NA 0.964 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040976.3|RCV000126043.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.6753806 1192 1 233515413 233515413 G A exonic KIAA1804 NA synonymous SNV KIAA1804:NM_032435:exon9:c.G2661A:p.P887P exonic ENSG00000143674 NA synonymous SNV ENSG00000143674:ENST00000366622:exon3:c.G999A:p.P333P,ENSG00000143674:ENST00000366624:exon9:c.G2661A:p.P887P NA NA 1q42.2 NA NA NA NA rs1402815 0.25 0.25 0.238 0.21865 0.3469 0.3294 0.1599 0.0144 0.2904 0.36 0.32 0.19 0.02 0.3063 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000547 NA NA 0.33814 0.066954 NA 0.217 NA 4.6753266 1192 17 76482432 76482432 A G exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon45:c.T6975C:p.I2325I exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon45:c.T6933C:p.I2311I,ENSG00000187775:ENST00000585328:exon45:c.T6960C:p.I2320I Score=483;Name=lod=123 NA 17q25.3 NA NA NA NA rs691151 0.65 0.65 0.631 0.654353 0.659 0.5952 0.768 0.5719 0.7413 0.65 0.57 0.79 0.65 0.6692 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 0.184495 NA NA 0.663311 0.579733 NA 0.623 NA 4.6751556 1192 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 1192 1 158655036 158655036 G A exonic SPTA1 NA synonymous SNV SPTA1:NM_003126:exon2:c.C126T:p.V42V exonic ENSG00000163554 NA synonymous SNV ENSG00000163554:ENST00000368147:exon2:c.C126T:p.V42V,ENSG00000163554:ENST00000368148:exon2:c.C126T:p.V42V Score=527;Name=lod=185 NA 1q23.1 NA NA Name=2 NA rs435080 0.98 0.98 0.971 0.969848 1 1 0.9957 0.888 1 1 1 0.99 0.89 0.992 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.474232 1.474232 NA 0.999637 0.916364 NA 0.978 NA 4.6750296 1192 4 167012480 167012480 T C exonic TLL1 NA synonymous SNV TLL1:NM_012464:exon19:c.T2643C:p.A881A exonic ENSG00000038295 NA synonymous SNV ENSG00000038295:ENST00000061240:exon19:c.T2643C:p.A881A,ENSG00000038295:ENST00000507499:exon20:c.T2712C:p.A904A NA NA 4q32.3 Score=754;Name=V$STAT5A_02 NA Name=11 NA rs2646914 0.98 0.98 0.974 0.969848 1 1 0.9942 0.8888 1 1 1 0.99 0.91 0.992 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.547373 NA NA 0.999651 0.916251 NA 0.957 NA 4.6750156 1193 5 73930751 73930751 C T exonic ENC1 NA synonymous SNV ENC1:NM_001256576:exon2:c.G1341A:p.K447K,ENC1:NM_003633:exon2:c.G1560A:p.K520K,ENC1:NM_001256574:exon3:c.G1560A:p.K520K,ENC1:NM_001256575:exon3:c.G1560A:p.K520K exonic ENSG00000171617 NA synonymous SNV ENSG00000171617:ENST00000302351:exon2:c.G1560A:p.K520K,ENSG00000171617:ENST00000510316:exon2:c.G1341A:p.K447K,ENSG00000171617:ENST00000537006:exon3:c.G1560A:p.K520K Score=617;Name=lod=429 NA 5q13.3 NA NA NA NA rs300239 0.65 0.65 0.638 0.617812 0.6948 0.6181 0.7464 0.5287 0.5675 0.7 0.65 0.75 0.5 0.6427 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060476 NA NA 0.654419 0.549478 NA 0.638 NA 4.6747476 1193 16 46696284 46696284 G A exonic VPS35 NA synonymous SNV VPS35:NM_018206:exon15:c.C1938T:p.H646H exonic ENSG00000069329 NA synonymous SNV ENSG00000069329:ENST00000299138:exon15:c.C1938T:p.H646H Score=672;Name=lod=718 NA 16q11.2 Score=815;Name=V$HNF1_C NA NA NA rs168745 0.98 0.98 0.972 0.974441 1 1 0.9957 0.9054 1 1 1 0.99 0.91 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 0.733622 NA NA 0.999651 0.91557 NA 0.957 NA 4.6745156 1193 12 131276448 131276448 G T exonic STX2 NA synonymous SNV STX2:NM_001980:exon10:c.C861A:p.S287S exonic ENSG00000111450 NA synonymous SNV ENSG00000111450:ENST00000261653:exon10:c.C861A:p.S287S Score=572;Name=lod=281 NA 12q24.33 Score=837;Name=V$RFX1_02 NA NA NA rs4759786 0.98 0.98 0.978 0.976637 0.999 1 0.9957 0.9145 1 1 1 1 0.92 0.9933 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.710719 NA NA 0.999884 0.926464 NA 0.986 NA 4.6744826 1193 1 42046812 42046812 C T exonic HIVEP3 NA synonymous SNV HIVEP3:NM_001127714:exon3:c.G3657A:p.Q1219Q,HIVEP3:NM_024503:exon4:c.G3657A:p.Q1219Q exonic ENSG00000127124 NA synonymous SNV ENSG00000127124:ENST00000247584:exon3:c.G3657A:p.Q1219Q,ENSG00000127124:ENST00000372584:exon3:c.G3657A:p.Q1219Q,ENSG00000127124:ENST00000429157:exon3:c.G3657A:p.Q1219Q,ENSG00000127124:ENST00000372583:exon4:c.G3657A:p.Q1219Q Score=361;Name=lod=39 NA 1p34.2 NA NA Name=5 NA rs2810565 0.98 0.98 0.981 0.977236 0.999 1 0.9942 0.9175 1 1 1 0.99 0.93 0.9934 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.723321 NA NA 0.999884 0.938039 NA 0.993 NA 4.6743826 1193 10 112361870 112361870 A G exonic SMC3 NA synonymous SNV SMC3:NM_005445:exon25:c.A3039G:p.S1013S exonic ENSG00000108055 NA synonymous SNV ENSG00000108055:ENST00000361804:exon25:c.A3039G:p.S1013S Score=734;Name=lod=1286 NA 10q25.2 Score=868;Name=V$PBX1_02 NA NA NA rs2419565 0.99 0.99 0.985 0.986821 0.997 1 0.9986 0.9531 1 1 1 1 0.95 0.9963 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.495798 NA NA 0.999302 0.971403 NA 0.978 NA 4.6740646 1193 17 7400137 7400137 T C exonic POLR2A NA synonymous SNV POLR2A:NM_000937:exon5:c.T592C:p.L198L exonic ENSG00000181222 NA synonymous SNV ENSG00000181222:ENST00000322644:exon5:c.T592C:p.L198L,ENSG00000181222:ENST00000572844:exon5:c.T592C:p.L198L Score=441;Name=lod=83 NA 17p13.1 NA NA Name=2 NA rs9898024 0.98 0.98 0.972 0.973243 1 1 0.9899 0.9039 1 1 1 0.99 0.9 0.993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.219023 NA NA 0.999651 0.926918 NA 0.971 NA 4.6740156 1193 3 184090266 184090266 C T UTR3 THPO NM_001177598:c.*120G>A,NM_001177597:c.*35G>A,NM_000460:c.*35G>A NA NA UTR3 ENSG00000090534 ENST00000204615:c.*35G>A,ENST00000445696:c.*35G>A,ENST00000421442:c.*120G>A NA NA NA Name=Platelet counts 3q27.1 NA Name=MafK_(ab50322) NA NA rs6141 0.62 0.62 0.648 0.640575 0.5477 0.4216 0.6599 0.9796 0.4898 0.52 0.44 0.66 0.96 0.5629 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 -0.113608 NA NA 0.548721 0.906945 NA 0.652 NA 4.6740124 1193 11 63681513 63681513 T C exonic RCOR2 NA synonymous SNV RCOR2:NM_173587:exon8:c.A804G:p.E268E exonic ENSG00000167771 NA synonymous SNV ENSG00000167771:ENST00000301459:exon8:c.A804G:p.E268E Score=503;Name=lod=147 NA 11q13.1 Score=799;Name=V$PAX4_01 NA NA NA rs10897461 0.98 0.98 0.976 0.976438 1 1 0.9885 0.9168 1 1 1 0.99 0.91 0.9931 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.829295 NA NA 0.999651 0.928896 NA 0.986 NA 4.6739156 1193 18 43432625 43432625 C T intronic EPG5 NA NA NA intronic ENSG00000152223 NA NA NA NA NA 18q12.3 NA NA Name=12 NA rs57761448 0.12 0.12 0.116 0.103235 0.1074 0.1716 0.1254 0.0825 0.0409 0.11 0.15 0.14 0.08 0.1056 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197254 NA NA 0.113085 0.090383 NA 0.174 NA 4.673915 1193 1 203787700 203787700 T C exonic ZC3H11A NA synonymous SNV ZC3H11A:NM_014827:exon6:c.T57C:p.G19G exonic ENSG00000058673 NA synonymous SNV ENSG00000058673:ENST00000367210:exon3:c.T57C:p.G19G,ENSG00000058673:ENST00000495527:exon3:c.T57C:p.G19G,ENSG00000058673:ENST00000545588:exon3:c.T57C:p.G19G,ENSG00000058673:ENST00000453771:exon4:c.T57C:p.G19G,ENSG00000058673:ENST00000332127:exon6:c.T57C:p.G19G,ENSG00000058673:ENST00000367212:exon6:c.T57C:p.G19G,ENSG00000058673:ENST00000367214:exon6:c.T57C:p.G19G,ENSG00000058673:ENST00000432282:exon6:c.T57C:p.G19G Score=666;Name=lod=679 NA 1q32.1 Score=895;Name=V$MEIS1_01 NA NA NA rs4951260 0.98 0.98 0.977 0.978834 1 1 0.9942 0.9228 1 1 1 1 0.91 0.9936 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.724888 1.724888 NA 0.999186 0.929868 NA 0.971 NA 4.6738806 1193 3 62229553 62229553 C T exonic PTPRG NA synonymous SNV PTPRG:NM_002841:exon15:c.C2448T:p.I816I exonic ENSG00000144724 NA synonymous SNV ENSG00000144724:ENST00000295874:exon14:c.C2361T:p.I787I,ENSG00000144724:ENST00000474889:exon15:c.C2448T:p.I816I Score=617;Name=lod=428 NA 3p14.2 Score=782;Name=V$STAT5A_02 NA NA NA rs1352882 0.98 0.98 0.98 0.978035 1 1 0.9942 0.9198 1 1 1 1 0.93 0.9935 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.177861 NA NA 0.999302 0.9335 NA 0.812 NA 4.6738646 1193 8 11683653 11683653 T C exonic FDFT1 NA synonymous SNV FDFT1:NM_004462:exon5:c.T631C:p.L211L exonic ENSG00000079459 NA synonymous SNV ENSG00000079459:ENST00000525777:exon3:c.T376C:p.L126L,ENSG00000079459:ENST00000443614:exon4:c.T502C:p.L168L,ENSG00000079459:ENST00000528643:exon4:c.T376C:p.L126L,ENSG00000079459:ENST00000220584:exon5:c.T631C:p.L211L,ENSG00000079459:ENST00000525900:exon5:c.T610C:p.L204L,ENSG00000079459:ENST00000528812:exon5:c.T439C:p.L147L,ENSG00000079459:ENST00000530664:exon5:c.T439C:p.L147L,ENSG00000079459:ENST00000538689:exon5:c.T298C:p.L100L Score=633;Name=lod=497 NA 8p23.1 Score=808;Name=V$FREAC3_01 NA NA NA rs904011 0.97 0.97 0.96 0.97504 1 1 0.9914 0.91 1 1 1 0.99 0.89 0.9931 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.405669 1.405669 NA 0.999767 0.922833 NA 0.986 NA 4.6737996 1193 6 12120445 12120445 A G exonic HIVEP1 NA synonymous SNV HIVEP1:NM_002114:exon4:c.A417G:p.Q139Q exonic ENSG00000095951 NA synonymous SNV ENSG00000095951:ENST00000379388:exon4:c.A417G:p.Q139Q,ENSG00000095951:ENST00000487103:exon4:c.A417G:p.Q139Q NA NA 6p24.1 NA NA NA NA rs2228215 0.24 0.24 0.219 0.219848 0.34 0.2242 0.2478 0.0628 0.2843 0.33 0.24 0.25 0.09 0.3029 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.420224 NA NA 0.350735 0.09447 NA 0.254 NA 4.6730316 1193 4 126329789 126329789 T C exonic FAT4 NA synonymous SNV FAT4:NM_024582:exon4:c.T5760C:p.D1920D exonic ENSG00000196159 NA synonymous SNV ENSG00000196159:ENST00000335110:exon4:c.T654C:p.D218D,ENSG00000196159:ENST00000394329:exon4:c.T5760C:p.D1920D Score=433;Name=lod=77 NA 4q28.1 Score=768;Name=V$YY1_02 NA NA NA rs958415 0.99 0.99 0.993 0.988419 0.998 1 0.9928 0.9614 1 1 1 0.99 0.98 0.9966 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.579889 NA NA 0.99907 0.973899 ID=COSM1131273,COSM1131272;OCCURENCE=1(prostate) 0.993 NA 4.6729966 1193 4 74318330 74318330 A G exonic AFP NA synonymous SNV AFP:NM_001134:exon12:c.A1641G:p.T547T exonic ENSG00000081051 NA synonymous SNV ENSG00000081051:ENST00000226359:exon12:c.A1641G:p.T547T,ENSG00000081051:ENST00000395792:exon12:c.A1641G:p.T547T NA NA 4q13.3 NA Name=Pol2 Name=11 NA rs4235117 0.98 0.98 0.976 0.977037 1 1 0.9971 0.9145 1 1 1 1 0.91 0.9938 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.489124 NA NA 0.999884 0.94099 NA 0.957 NA 4.6729826 1193 4 129043286 129043286 C T exonic LARP1B NA synonymous SNV LARP1B:NM_018078:exon11:c.C1467T:p.Y489Y,LARP1B:NM_178043:exon11:c.C1467T:p.Y489Y exonic ENSG00000138709 NA synonymous SNV ENSG00000138709:ENST00000507259:exon1:c.C15T:p.Y5Y,ENSG00000138709:ENST00000264584:exon10:c.C1326T:p.Y442Y,ENSG00000138709:ENST00000508819:exon10:c.C1326T:p.Y442Y,ENSG00000138709:ENST00000326639:exon11:c.C1467T:p.Y489Y,ENSG00000138709:ENST00000427266:exon11:c.C1467T:p.Y489Y,ENSG00000138709:ENST00000441387:exon11:c.C1467T:p.Y489Y,ENSG00000138709:ENST00000512292:exon11:c.C1467T:p.Y489Y Score=592;Name=lod=339 NA 4q28.2 NA NA NA NA rs3733320 0.56 0.56 0.527 0.590855 0.6759 0.5288 0.696 0.3964 0.7556 0.68 0.46 0.68 0.41 0.6531 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.136754 NA NA 0.664884 0.455969 NA 0.529 NA 4.6727826 1193 20 44996182 44996182 A G exonic ELMO2 NA synonymous SNV ELMO2:NM_182764:exon21:c.T1980C:p.D660D,ELMO2:NM_133171:exon22:c.T1980C:p.D660D exonic ENSG00000062598 NA synonymous SNV ENSG00000062598:ENST00000452857:exon7:c.T669C:p.D223D,ENSG00000062598:ENST00000454865:exon12:c.T1176C:p.D392D,ENSG00000062598:ENST00000352077:exon20:c.T1974C:p.D658D,ENSG00000062598:ENST00000445496:exon20:c.T1431C:p.D477D,ENSG00000062598:ENST00000396391:exon21:c.T1980C:p.D660D,ENSG00000062598:ENST00000290246:exon22:c.T1980C:p.D660D,ENSG00000062598:ENST00000372176:exon22:c.T1716C:p.D572D,ENSG00000062598:ENST00000439931:exon23:c.T2016C:p.D672D Score=601;Name=lod=368 NA 20q13.12 Score=896;Name=V$CDPCR1_01 NA NA NA rs2257495 0.99 0.99 0.984 0.985024 0.999 1 0.9971 0.9455 1 1 1 0.99 0.95 0.995 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369046 NA NA 0.999884 0.94621 NA 0.986 NA 4.6727826 1193 2 217541582 217541582 T C exonic IGFBP5 NA synonymous SNV IGFBP5:NM_000599:exon4:c.A711G:p.K237K exonic ENSG00000115461 NA synonymous SNV ENSG00000115461:ENST00000233813:exon4:c.A711G:p.K237K Score=613;Name=lod=414 NA 2q35 Score=805;Name=V$HTF_01 NA NA NA rs2160549 0.98 0.98 0.985 0.978634 1 1 0.9885 0.9251 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 1.541872 1.541872 NA 0.999767 0.935089 NA 0.833 NA 4.6726996 1193 2 73957124 73957124 A G exonic TPRKB NA synonymous SNV TPRKB:NM_016058:exon5:c.T474C:p.I158I exonic ENSG00000144034 NA synonymous SNV ENSG00000144034:ENST00000272424:exon5:c.T474C:p.I158I,ENSG00000144034:ENST00000318190:exon6:c.T591C:p.I197I,ENSG00000144034:ENST00000409716:exon6:c.T591C:p.I197I Score=517;Name=lod=169 NA 2p13.1 NA NA NA NA rs7210 0.59 0.59 0.552 0.570687 0.6899 0.6954 0.5821 0.292 0.6881 0.68 0.68 0.61 0.32 0.6452 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.003121 NA NA 0.658921 0.385283 NA 0.551 NA 4.6726456 1193 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 1193 2 219254622 219254622 A G exonic SLC11A1 NA synonymous SNV SLC11A1:NM_000578:exon9:c.A825G:p.A275A exonic ENSG00000018280 NA synonymous SNV ENSG00000018280:ENST00000233202:exon9:c.A825G:p.A275A,ENSG00000018280:ENST00000539932:exon10:c.A471G:p.A157A NA NA 2q35 NA Name=SP1,TCF4,ZBTB33,CHD2_(N-1250),Pol2,ELF1_(SC-631),HEY1,HNF4G_(SC-6558) Name=2 NA rs2695342 0.98 0.98 0.977 0.984625 0.999 1 0.9971 0.944 1 1 1 0.99 0.93 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.176311 NA NA 0.999535 0.962778 NA 0.993 NA 4.6725316 1193 11 64011441 64011441 T C exonic FKBP2 NA synonymous SNV FKBP2:NM_001135208:exon6:c.T369C:p.G123G,FKBP2:NM_004470:exon6:c.T369C:p.G123G,FKBP2:NM_057092:exon6:c.T369C:p.G123G exonic ENSG00000173486 NA synonymous SNV ENSG00000173486:ENST00000309366:exon6:c.T369C:p.G123G,ENSG00000173486:ENST00000394540:exon6:c.T369C:p.G123G,ENSG00000173486:ENST00000449942:exon6:c.T369C:p.G123G Score=529;Name=lod=189 NA 11q13.1 Score=907;Name=V$CEBPB_02 NA NA NA rs654573 0.98 0.98 0.977 0.976837 1 1 0.9942 0.9153 1 1 1 0.99 0.93 0.9943 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071338 NA NA 0.999884 0.940027 NA 0.986 NA 4.6724826 1193 1 55523033 55523033 A G exonic PCSK9 NA synonymous SNV PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q exonic ENSG00000169174 NA synonymous SNV ENSG00000169174:ENST00000543384:exon5:c.A426G:p.Q142Q,ENSG00000169174:ENST00000302118:exon7:c.A1026G:p.Q342Q Score=403;Name=lod=58 NA 1p32.3 Score=867;Name=V$PPARG_03 NA NA NA rs509504 0.99 0.99 0.986 0.981829 1 1 0.9986 0.9319 1 1 1 1 0.95 0.9945 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049678 NA NA 0.999767 0.940536 NA 0.964 NA 4.6723996 1193 11 111368047 111368047 G T exonic BTG4 NA synonymous SNV BTG4:NM_017589:exon4:c.C399A:p.A133A exonic ENSG00000137707 NA synonymous SNV ENSG00000137707:ENST00000356018:exon4:c.C399A:p.A133A,ENSG00000137707:ENST00000525791:exon4:c.C399A:p.A133A,ENSG00000137707:ENST00000456861:exon5:c.C399A:p.A133A Score=313;Name=lod=25 NA 11q23.1 NA NA Name=2 NA rs489078 0.99 0.99 0.99 0.978634 1 1 0.9899 0.9244 1 1 1 0.99 0.94 0.9943 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.866713 NA NA 1 0.942753 NA 1 NA 4.6723666 1193 17 7460559 7460559 T G exonic TNFSF12 NA synonymous SNV TNFSF12:NM_003809:exon7:c.T642G:p.G214G exonic ENSG00000239697 NA synonymous SNV ENSG00000239697:ENST00000293825:exon7:c.T642G:p.G214G Score=389;Name=lod=51 NA 17p13.1 NA NA Name=5 NA rs4968189 0.98 0.98 0.98 0.980032 1 1 0.9928 0.9281 1 1 1 0.99 0.92 0.9947 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.133265 NA NA 0.999651 0.942124 NA 0.971 NA 4.6723156 1193 10 88422151 88422151 C A exonic OPN4 NA synonymous SNV OPN4:NM_033282:exon8:c.C1216A:p.R406R,OPN4:NM_001030015:exon9:c.C1249A:p.R417R exonic ENSG00000122375 NA synonymous SNV ENSG00000122375:ENST00000241891:exon8:c.C1216A:p.R406R,ENSG00000122375:ENST00000372071:exon9:c.C1249A:p.R417R,ENSG00000122375:ENST00000443292:exon9:c.C1249A:p.R417R NA NA 10q23.2 NA NA NA NA rs3740337 0.21 0.21 0.184 0.229832 0.3012 0.2798 0.1744 0.0386 0.4029 0.3 0.27 0.17 0.05 0.3721 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102703 NA NA 0.321228 0.082038 NA 0.159 NA 4.6721386 1193 10 6061479 6061479 A C intronic IL2RA NA NA NA intronic ENSG00000134460 NA NA NA NA NA 10p15.1 NA Name=TAL1_(SC-12984),USF-1,E2F6 NA NA rs28360490 0.05 0.05 0.043 0.0459265 0.1034 NA 0.0432 0.0166 0.0757 0.11 NA 0.06 0.02 0.0925 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.334312 NA NA 0.131977 0.036087 NA 0.051 NA 4.672123 1193 X 12939928 12939928 T C exonic TLR8 NA synonymous SNV TLR8:NM_138636:exon2:c.T2769C:p.D923D exonic ENSG00000101916 NA synonymous SNV ENSG00000101916:ENST00000218032:exon2:c.T2769C:p.D923D,ENSG00000101916:ENST00000311912:exon3:c.T2823C:p.D941D Score=501;Name=lod=145 NA Xp22.2 NA NA NA NA rs2109135 1 1 1 NA NA NA NA NA NA 1 1 1 1 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 0.3191 NA NA 0.99673 0.999739 NA 0.746 NA 4.6720366 1193 21 46876083 46876083 A G exonic COL18A1 NA synonymous SNV COL18A1:NM_030582:exon1:c.A639G:p.P213P exonic ENSG00000182871 NA synonymous SNV ENSG00000182871:ENST00000355480:exon1:c.A639G:p.P213P,ENSG00000182871:ENST00000359759:exon1:c.A639G:p.P213P NA NA 21q22.3 NA NA NA NA rs2236451 0.38 0.38 0.362 0.375599 0.326 0.3284 0.2997 0.5673 0.2699 0.31 0.33 0.36 0.54 0.3437 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040487 NA NA 0.325006 0.502216 NA 0.399 NA 4.6719606 1193 2 179600563 179600563 G A exonic TTN NA synonymous SNV TTN:NM_133378:exon47:c.C10878T:p.S3626S,TTN:NM_001256850:exon48:c.C13659T:p.S4553S,TTN:NM_001267550:exon50:c.C14610T:p.S4870S exonic ENSG00000155657 NA synonymous SNV ENSG00000155657:ENST00000342992:exon47:c.C10878T:p.S3626S,ENSG00000155657:ENST00000591111:exon48:c.C13659T:p.S4553S,ENSG00000155657:ENST00000589042:exon50:c.C14610T:p.S4870S Score=530;Name=lod=190 NA 2q31.2 NA NA NA NA rs2742348 0.99 0.99 0.988 0.981829 1 1 0.9942 0.9342 1 1 1 1 0.94 0.9949 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.316848 1.316848 NA 0.999878 0.93954 NA 0.993 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000039860.3|RCV000126094.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.6718886 1193 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 1193 2 179585266 179585266 C T exonic TTN NA synonymous SNV TTN:NM_133378:exon77:c.G19491A:p.Q6497Q,TTN:NM_001256850:exon78:c.G22272A:p.Q7424Q,TTN:NM_001267550:exon80:c.G23223A:p.Q7741Q exonic ENSG00000155657 NA synonymous SNV ENSG00000155657:ENST00000342992:exon77:c.G19491A:p.Q6497Q,ENSG00000155657:ENST00000591111:exon78:c.G22272A:p.Q7424Q,ENSG00000155657:ENST00000589042:exon80:c.G23223A:p.Q7741Q Score=592;Name=lod=340 NA 2q31.2 NA NA NA NA rs2562831 0.99 0.99 0.987 0.982029 1 1 0.9942 0.9349 1 1 1 1 0.94 0.995 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.193625 NA NA 0.999877 0.940143 NA 0.993 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000039984.3|RCV000126134.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.6717896 1193 1 95001600 95001600 A C exonic F3 NA synonymous SNV F3:NM_001178096:exon3:c.T333G:p.P111P,F3:NM_001993:exon3:c.T333G:p.P111P exonic ENSG00000117525 NA synonymous SNV ENSG00000117525:ENST00000334047:exon3:c.T333G:p.P111P,ENSG00000117525:ENST00000370207:exon3:c.T333G:p.P111P NA NA 1p21.3 NA Name=Pol2 Name=34 NA rs698946 0.98 0.98 0.986 0.982628 1 1 0.9957 0.9365 1 1 1 1 0.92 0.995 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.506569 NA NA 1 0.951884 NA 0.978 NA 4.6716666 1193 7 72483668 72483668 A G ncRNA_intronic PMS2L2 NA NA NA ncRNA_exonic ENSG00000229018 NA NA NA Score=621;Name=lod=447 NA 7q11.23 NA NA NA NA rs800182 1 1 1 0.996406 0.995 1 0.9885 1 0.9949 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 -0.247433 NA NA NA NA NA 0.188 NA 4.6716666 1193 11 70007392 70007392 A G exonic ANO1 NA synonymous SNV ANO1:NM_018043:exon17:c.A1704G:p.A568A exonic ENSG00000131620 NA synonymous SNV ENSG00000131620:ENST00000531300:exon6:c.A357G:p.A119A,ENSG00000131620:ENST00000531349:exon11:c.A831G:p.A277A,ENSG00000131620:ENST00000316296:exon15:c.A1530G:p.A510A,ENSG00000131620:ENST00000398543:exon15:c.A1266G:p.A422A,ENSG00000131620:ENST00000530676:exon15:c.A1266G:p.A422A,ENSG00000131620:ENST00000355303:exon17:c.A1704G:p.A568A,ENSG00000131620:ENST00000538023:exon17:c.A1704G:p.A568A NA NA 11q13.3 Score=824;Name=V$HNF1_01 NA NA NA rs2276067 0.67 0.67 0.649 0.658147 0.6561 0.7798 0.6081 0.5893 0.6636 0.66 0.78 0.6 0.58 0.6743 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 -0.802663 NA NA 0.664754 0.588909 NA 0.623 NA 4.6715126 1193 4 8229218 8229218 A G exonic SH3TC1 NA synonymous SNV SH3TC1:NM_018986:exon12:c.A1797G:p.L599L exonic ENSG00000125089 NA synonymous SNV ENSG00000125089:ENST00000245105:exon12:c.A1797G:p.L599L,ENSG00000125089:ENST00000539824:exon12:c.A1569G:p.L523L NA NA 4p16.1 Score=713;Name=V$NRSF_01 NA Name=4 NA rs1281146 0.99 0.99 0.98 0.981829 1 1 0.9942 0.9342 1 1 1 0.99 0.94 0.9954 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531012 NA NA 0.999755 0.960723 NA 0.971 NA 4.6715116 1193 9 94118258 94118258 C T intronic AUH NA NA NA intronic ENSG00000148090 NA NA NA Score=508;Name=lod=155 NA 9q22.31 NA NA NA NA rs10991898 0.1 0.1 0.085 0.0958466 0.1123 0.1746 0.1124 0.0212 0.0869 0.1 0.17 0.1 0.03 0.1079 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.94128 NA NA 0.108372 0.036995 NA 0.043 NA 4.671428 1193 12 57590869 57590869 T C exonic LRP1 NA synonymous SNV LRP1:NM_002332:exon56:c.T8997C:p.T2999T exonic ENSG00000123384 NA synonymous SNV ENSG00000123384:ENST00000243077:exon56:c.T8997C:p.T2999T Score=571;Name=lod=280 NA 12q13.3 Score=795;Name=V$TAXCREB_01 NA NA NA rs7308698 0.99 0.99 0.988 0.984625 1 1 0.9986 0.9425 1 1 1 1 0.95 0.9954 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.31078 1.31078 NA 0.999884 0.952792 NA 0.978 NA 4.6713826 1193 11 121403229 121403229 T C exonic SORL1 NA synonymous SNV SORL1:NM_003105:exon12:c.T1653C:p.A551A exonic ENSG00000137642 NA synonymous SNV ENSG00000137642:ENST00000260197:exon12:c.T1653C:p.A551A Score=489;Name=lod=129 NA 11q24.1 Score=829;Name=V$CHOP_01 NA NA NA rs636588 0.99 0.99 0.983 0.985224 1 1 0.9971 0.9455 1 1 1 1 0.95 0.9953 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.676814 1.676814 NA 1 0.948706 NA 0.964 NA 4.6713666 1193 10 72619205 72619205 C T exonic SGPL1 NA synonymous SNV SGPL1:NM_003901:exon7:c.C564T:p.I188I exonic ENSG00000166224 NA synonymous SNV ENSG00000166224:ENST00000299297:exon5:c.C513T:p.I171I,ENSG00000166224:ENST00000373202:exon7:c.C564T:p.I188I Score=494;Name=lod=136 NA 10q22.1 NA NA NA NA rs827255 0.99 0.99 0.985 0.984824 1 1 0.9971 0.944 1 1 1 0.99 0.95 0.9955 1 . . . . . . . . 0.000 P . . . . -1.024 T 0.000 T . 1.311 10.29 1.78 0.088 -0.057 0.401 1.31064 1.31064 NA 0.999884 0.948706 NA 0.899 NA 4.6712826 1193 20 44678348 44678348 G A exonic SLC12A5 NA synonymous SNV SLC12A5:NM_001134771:exon17:c.G2169A:p.A723A,SLC12A5:NM_020708:exon17:c.G2100A:p.A700A exonic ENSG00000124140 NA synonymous SNV ENSG00000124140:ENST00000243964:exon17:c.G2100A:p.A700A,ENSG00000124140:ENST00000454036:exon17:c.G2169A:p.A723A Score=650;Name=lod=586 NA 20q13.12 Score=675;Name=V$P53_01 NA NA NA rs6032635 0.98 0.98 0.978 0.986022 1 1 0.9957 0.9493 1 1 1 1 0.93 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.095627 NA NA 0.999884 0.95143 NA 0.971 NA 4.6711826 1193 13 78146301 78146301 C T exonic SCEL NA synonymous SNV SCEL:NM_003843:exon9:c.C522T:p.S174S,SCEL:NM_144777:exon9:c.C522T:p.S174S exonic ENSG00000136155 NA synonymous SNV ENSG00000136155:ENST00000471491:exon8:c.C453T:p.S151S,ENSG00000136155:ENST00000349847:exon9:c.C522T:p.S174S,ENSG00000136155:ENST00000377246:exon9:c.C522T:p.S174S NA NA 13q22.3 Score=801;Name=V$ER_Q6 Name=Rad21,CTCF_(SC-5916) NA NA rs678047 0.99 0.99 0.99 0.991214 0.999 1 0.9942 0.9705 1 1 1 1 0.97 0.997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.26407 NA NA 0.999535 0.97231 NA 0.971 NA 4.6711316 1193 13 23907677 23907677 C T exonic SACS NA synonymous SNV SACS:NM_014363:exon10:c.G10338A:p.Q3446Q exonic ENSG00000151835 NA synonymous SNV ENSG00000151835:ENST00000402364:exon8:c.G8088A:p.Q2696Q,ENSG00000151835:ENST00000382292:exon9:c.G10338A:p.Q3446Q,ENSG00000151835:ENST00000382298:exon10:c.G10338A:p.Q3446Q NA NA 13q12.12 Score=826;Name=V$GR_Q6 NA NA NA rs2737701 0.99 0.99 0.994 0.985423 1 1 1 0.9448 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 -0.291787 NA NA 0.999884 0.954153 NA 0.993 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118229.2;CLNDSDB=.;CLNDSDBID=. 4.6710826 1193 21 47773103 47773103 C A exonic PCNT NA synonymous SNV PCNT:NM_006031:exon10:c.C1542A:p.S514S exonic ENSG00000160299 NA synonymous SNV ENSG00000160299:ENST00000359568:exon10:c.C1542A:p.S514S NA NA 21q22.3 NA NA NA NA rs2249057 0.31 0.31 0.326 0.289537 0.3449 0.3839 0.1988 0.2141 0.3016 0.35 0.41 0.23 0.2 0.3201 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.066255 NA NA 0.330698 0.234907 ID=COSM1130514;OCCURENCE=1(prostate) 0.377 NA 4.6709686 1193 8 17486282 17486282 T C exonic PDGFRL NA synonymous SNV PDGFRL:NM_006207:exon5:c.T792C:p.Y264Y exonic ENSG00000104213 NA synonymous SNV ENSG00000104213:ENST00000398074:exon4:c.T792C:p.Y264Y,ENSG00000104213:ENST00000251630:exon5:c.T792C:p.Y264Y,ENSG00000104213:ENST00000541323:exon5:c.T792C:p.Y264Y Score=536;Name=lod=201 NA 8p22 NA NA Name=3 NA rs2229084 0.98 0.98 0.988 0.988019 1 1 0.9971 0.9561 1 0.99 0.99 0.99 0.94 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 -0.037605 NA NA 0.999767 0.959147 NA 0.978 NA 4.6706996 1193 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=Sin3Ak-20,Rad21,Max,YY1_(C-20),TBP,CTCF,E2F6_(H-50),CHD2_(N-1250),FOSL2,Pol2,USF-1,ELF1_(SC-631),CTCF_(SC-5916),TAF1,CTCF_(C-20),RFX5_(N-494) 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 1193 1 182850727 182850727 T C exonic DHX9 NA synonymous SNV DHX9:NM_001357:exon24:c.T2859C:p.T953T exonic ENSG00000135829 NA synonymous SNV ENSG00000135829:ENST00000367549:exon24:c.T2859C:p.T953T Score=579;Name=lod=301 NA 1q25.3 Score=868;Name=V$ATF6_01 NA NA NA rs6677840 0.99 0.99 0.989 0.984625 1 1 0.9899 0.947 1 1 1 0.99 0.95 0.9963 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.947056 NA NA 1 0.9592 NA 0.986 NA 4.6703666 1193 7 128487866 128487866 T C exonic FLNC NA synonymous SNV FLNC:NM_001127487:exon25:c.T4404C:p.D1468D,FLNC:NM_001458:exon25:c.T4404C:p.D1468D exonic ENSG00000128591 NA synonymous SNV ENSG00000128591:ENST00000325888:exon25:c.T4404C:p.D1468D,ENSG00000128591:ENST00000346177:exon25:c.T4404C:p.D1468D Score=525;Name=lod=181 NA 7q32.1 Score=769;Name=V$PAX6_01 NA NA NA rs2249128 0.99 0.99 0.99 0.990615 0.999 1 0.9957 0.9675 1 1 1 1 0.96 0.9973 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.101739 NA NA 1 0.972596 NA 1 NA 4.6703666 1193 10 105796819 105796819 A G exonic COL17A1 NA synonymous SNV COL17A1:NM_000494:exon47:c.T3261C:p.I1087I exonic ENSG00000065618 NA synonymous SNV ENSG00000065618:ENST00000369733:exon44:c.T3126C:p.I1042I,ENSG00000065618:ENST00000353479:exon47:c.T3261C:p.I1087I Score=376;Name=lod=45 NA 10q24.33 NA NA Name=3 NA rs2476958 0.99 0.99 0.99 0.986022 1 1 0.9986 0.9478 1 1 1 1 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 1.086948 NA NA 1 0.959355 NA 0.993 NA 4.6702666 1193 12 1017197 1017197 C T exonic WNK1 NA synonymous SNV WNK1:NM_014823:exon25:c.C6084T:p.Y2028Y,WNK1:NM_001184985:exon27:c.C7608T:p.Y2536Y,WNK1:NM_018979:exon27:c.C6828T:p.Y2276Y,WNK1:NM_213655:exon27:c.C7584T:p.Y2528Y exonic ENSG00000060237 NA synonymous SNV ENSG00000060237:ENST00000340908:exon24:c.C5607T:p.Y1869Y,ENSG00000060237:ENST00000535572:exon25:c.C6084T:p.Y2028Y,ENSG00000060237:ENST00000315939:exon27:c.C6828T:p.Y2276Y,ENSG00000060237:ENST00000537687:exon27:c.C7608T:p.Y2536Y,ENSG00000060237:ENST00000530271:exon29:c.C8322T:p.Y2774Y Score=644;Name=lod=550 NA 12p13.33 Score=906;Name=V$NKX25_02 NA NA NA rs4766334 0.99 0.99 0.991 0.987021 1 1 0.9971 0.9523 1 1 1 1 0.96 0.9964 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.44191 NA NA 1 0.959147 NA 0.993 NA 4.6702666 1193 19 7963914 7963914 A C exonic LRRC8E NA synonymous SNV LRRC8E:NM_001268285:exon2:c.A120C:p.V40V,LRRC8E:NM_025061:exon3:c.A507C:p.V169V,LRRC8E:NM_001268284:exon4:c.A507C:p.V169V exonic ENSG00000171017 NA synonymous SNV ENSG00000171017:ENST00000600345:exon2:c.A120C:p.V40V,ENSG00000171017:ENST00000306708:exon3:c.A507C:p.V169V,ENSG00000171017:ENST00000598224:exon4:c.A507C:p.V169V Score=366;Name=lod=41 NA 19p13.2 NA NA NA NA rs524029 0.99 0.99 0.994 0.992812 1 0.9702 1 1 0.9939 1 0.97 1 1 0.9964 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.347079 NA NA NA NA NA 1 NA 4.6702666 1193 15 81600995 81600995 A G exonic IL16 NA synonymous SNV IL16:NM_004513:exon7:c.A1752G:p.L584L,IL16:NM_172217:exon18:c.A3855G:p.L1285L,IL16:NM_001172128:exon19:c.A3852G:p.L1284L exonic ENSG00000172349 NA synonymous SNV ENSG00000172349:ENST00000394652:exon7:c.A1752G:p.L584L,ENSG00000172349:ENST00000302987:exon18:c.A3855G:p.L1285L,ENSG00000172349:ENST00000394660:exon19:c.A3852G:p.L1284L Score=417;Name=lod=66 NA 15q25.1 Score=689;Name=V$BRACH_01 NA NA NA rs4238526 0.99 0.99 0.992 0.992812 1 0.9683 0.9942 1 1 1 0.97 0.99 1 0.9966 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285705 NA NA 0.999884 0.999092 NA 0.986 NA 4.6701826 1193 2 32855615 32855615 A G exonic TTC27 NA synonymous SNV TTC27:NM_017735:exon2:c.A114G:p.L38L exonic ENSG00000018699 NA synonymous SNV ENSG00000018699:ENST00000317907:exon2:c.A114G:p.L38L Score=446;Name=lod=87 NA 2p22.3 Score=808;Name=V$STAT5A_02 NA NA NA rs2710623 0.99 0.99 0.984 0.987819 1 1 0.9986 0.9546 1 1 1 1 0.95 0.9969 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.211579 NA NA 0.999651 0.967515 NA 0.993 NA 4.6701156 1193 X 152815089 152815089 A G exonic ATP2B3 NA synonymous SNV ATP2B3:NM_001001344:exon9:c.A1473G:p.G491G,ATP2B3:NM_021949:exon9:c.A1473G:p.G491G exonic ENSG00000067842 NA synonymous SNV ENSG00000067842:ENST00000370181:exon8:c.A1431G:p.G477G,ENSG00000067842:ENST00000263519:exon9:c.A1473G:p.G491G,ENSG00000067842:ENST00000359149:exon9:c.A1473G:p.G491G,ENSG00000067842:ENST00000370186:exon9:c.A1431G:p.G477G,ENSG00000067842:ENST00000393842:exon9:c.A1431G:p.G477G,ENSG00000067842:ENST00000349466:exon10:c.A1473G:p.G491G Score=502;Name=lod=146 NA Xq28 NA NA NA NA rs3020949 0.99 0.99 0.98569 NA NA NA NA NA NA 1 1 1 0.94 0.9967 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.427205 1.427205 NA 0.999851 0.971317 NA 0.739 NA 4.6701156 1193 4 139482958 139482958 G T intergenic LINC00499,CCRN4L dist=137460;dist=453985 NA NA ncRNA_exonic ENSG00000248795 NA NA NA Score=701;Name=lod=943 NA 4q28.3 NA NA NA NA rs7694744 0.25 0.25 0.255 0.248203 0.33 0.0972 0.2406 0.2496 0.3231 0.32 0.14 0.26 0.26 NA 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.232491 NA NA NA NA ID=COSN167335;OCCURENCE=1(large_intestine) 0.268 NA 4.67 1193 12 122691738 122691738 C A exonic B3GNT4 NA synonymous SNV B3GNT4:NM_030765:exon3:c.C940A:p.R314R exonic ENSG00000176383 NA synonymous SNV ENSG00000176383:ENST00000535274:exon1:c.C865A:p.R289R,ENSG00000176383:ENST00000546192:exon2:c.C865A:p.R289R,ENSG00000176383:ENST00000324189:exon3:c.C940A:p.R314R NA NA 12q24.31 Score=739;Name=V$LUN1_01 Name=Pol2 NA NA rs4758675 0.99 0.99 0.995 0.99361 0.999 1 0.9986 0.9773 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 -0.698236 NA NA 0.999884 0.978438 NA 0.986 NA 4.6698826 1193 3 97673268 97673268 A C exonic MINA NA synonymous SNV MINA:NM_001042533:exon5:c.T753G:p.S251S,MINA:NM_001261829:exon5:c.T753G:p.S251S,MINA:NM_032778:exon5:c.T753G:p.S251S,MINA:NM_153182:exon5:c.T753G:p.S251S exonic ENSG00000170854 NA synonymous SNV ENSG00000170854:ENST00000507612:exon3:c.T291G:p.S97S,ENSG00000170854:ENST00000514314:exon4:c.T753G:p.S251S,ENSG00000170854:ENST00000330299:exon5:c.T753G:p.S251S,ENSG00000170854:ENST00000333396:exon5:c.T753G:p.S251S,ENSG00000170854:ENST00000360258:exon5:c.T753G:p.S251S,ENSG00000170854:ENST00000394198:exon5:c.T753G:p.S251S Score=553;Name=lod=236 NA 3q11.2 NA Name=USF-1,CTCF,Rad21 NA NA rs832079 1 1 0.994 0.993011 1 0.9831 0.9957 0.9955 0.9908 1 0.98 1 1 0.9972 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.50467 NA NA 0.999651 0.995007 NA 0.993 NA 4.6698156 1193 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 1193 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 1193 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 1193 12 7551050 7551050 A C exonic CD163L1 NA synonymous SNV CD163L1:NM_174941:exon7:c.T1539G:p.V513V exonic ENSG00000177675 NA synonymous SNV ENSG00000177675:ENST00000313599:exon7:c.T1539G:p.V513V,ENSG00000177675:ENST00000396630:exon7:c.T1539G:p.V513V,ENSG00000177675:ENST00000416109:exon7:c.T1569G:p.V523V Score=340;Name=lod=32 NA 12p13.31 NA NA Name=6 NA rs6488269 1 1 0.993 0.99381 1 1 0.9986 0.9773 1 1 1 1 0.98 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 -0.01656 NA NA 0.999884 0.974807 NA 1 NA 4.6691826 1193 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 1193 14 20444490 20444490 C T exonic OR4K15 NA synonymous SNV OR4K15:NM_001005486:exon1:c.C813T:p.V271V exonic ENSG00000169488 NA synonymous SNV ENSG00000169488:ENST00000305051:exon1:c.C813T:p.V271V Score=340;Name=lod=32 NA 14q11.2 NA NA NA NA rs11158071 0.63 0.63 0.56 0.566494 0.6938 0.8323 0.755 0.1604 0.5767 0.68 0.85 0.75 0.19 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 -0.504044 NA NA 0.655967 0.229687 NA 0.522 NA 4.6690996 1193 11 3661140 3661140 T C exonic ART5 NA synonymous SNV ART5:NM_053017:exon2:c.A519G:p.G173G,ART5:NM_001079536:exon3:c.A519G:p.G173G exonic ENSG00000167311 NA synonymous SNV ENSG00000167311:ENST00000397067:exon2:c.A519G:p.G173G,ENSG00000167311:ENST00000397068:exon2:c.A519G:p.G173G,ENSG00000167311:ENST00000359918:exon3:c.A519G:p.G173G NA NA 11p15.4 Score=719;Name=V$LUN1_01 NA NA NA rs4910876 0.99 0.99 0.994 0.990615 1 1 1 0.9652 0.999 1 1 1 0.96 0.9976 1 . . . . . . . . 0.000 P . . . . -1.008 T 0.000 T . -0.761 0.786 -1.01 -0.272 -0.598 7.085 -0.760627 NA NA 1 0.975693 NA 0.971 NA 4.6690666 1193 10 71658512 71658512 G A exonic COL13A1 NA synonymous SNV COL13A1:NM_080798:exon10:c.G603A:p.T201T,COL13A1:NM_080800:exon13:c.G717A:p.T239T,COL13A1:NM_001130103:exon14:c.G774A:p.T258T exonic ENSG00000197467 NA synonymous SNV ENSG00000197467:ENST00000398969:exon10:c.G603A:p.T201T,ENSG00000197467:ENST00000520267:exon10:c.G603A:p.T201T,ENSG00000197467:ENST00000398964:exon11:c.G687A:p.T229T,ENSG00000197467:ENST00000398968:exon12:c.G717A:p.T239T,ENSG00000197467:ENST00000398974:exon12:c.G738A:p.T246T,ENSG00000197467:ENST00000356340:exon13:c.G774A:p.T258T,ENSG00000197467:ENST00000398971:exon13:c.G774A:p.T258T,ENSG00000197467:ENST00000522165:exon13:c.G717A:p.T239T,ENSG00000197467:ENST00000398972:exon14:c.G774A:p.T258T,ENSG00000197467:ENST00000398973:exon14:c.G774A:p.T258T,ENSG00000197467:ENST00000398978:exon14:c.G774A:p.T258T,ENSG00000197467:ENST00000479733:exon15:c.G801A:p.T267T Score=629;Name=lod=479 NA 10q22.1 NA NA Name=4 NA rs1227747 1 1 0.998 0.995407 0.999 1 0.9971 0.9849 1 1 1 0.99 0.98 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.921085 NA NA 1 0.987688 NA 0.978 NA 4.6689666 1193 14 86088056 86088056 T C exonic FLRT2 NA synonymous SNV FLRT2:NM_013231:exon2:c.T198C:p.T66T exonic ENSG00000185070 NA synonymous SNV ENSG00000185070:ENST00000330753:exon2:c.T198C:p.T66T,ENSG00000185070:ENST00000554746:exon2:c.T198C:p.T66T Score=717;Name=lod=1098 NA 14q31.3 NA NA NA NA rs10141266 0.99 0.99 0.997 0.994409 1 0.9722 1 1 1 1 0.98 1 1 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 1.494226 1.494226 NA NA NA NA 0.993 NA 4.6687666 1193 3 32927509 32927509 G T exonic TRIM71 NA synonymous SNV TRIM71:NM_001039111:exon3:c.G1104T:p.T368T exonic ENSG00000206557 NA synonymous SNV ENSG00000206557:ENST00000383763:exon3:c.G1104T:p.T368T NA NA 3p22.3 Score=761;Name=V$PAX5_02 Name=Pol2-4H8 NA NA rs6774703 0.99 0.99 0.99 0.990615 1 1 0.9971 0.966 1 1 1 0.99 0.97 0.998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.19681 NA NA 1 0.980519 NA 0.993 NA 4.6686666 1193 16 29825126 29825126 T C exonic PRRT2 NA synonymous SNV PRRT2:NM_001256442:exon2:c.T751C:p.L251L,PRRT2:NM_001256443:exon2:c.T751C:p.L251L,PRRT2:NM_145239:exon2:c.T751C:p.L251L exonic ENSG00000167371 NA synonymous SNV ENSG00000167371:ENST00000300797:exon2:c.T751C:p.L251L,ENSG00000167371:ENST00000358758:exon2:c.T751C:p.L251L,ENSG00000167371:ENST00000567659:exon2:c.T751C:p.L251L Score=519;Name=lod=171 NA 16p11.2 NA Name=c-Myc NA NA rs11150573 0.99 0.99 0.996 0.991813 1 1 1 0.969 1 1 1 1 0.97 0.998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.188071 NA NA 1 0.972678 NA 0.971 NA 4.6686666 1193 17 80696410 80696410 A C exonic FN3K NA synonymous SNV FN3K:NM_022158:exon2:c.A187C:p.R63R exonic ENSG00000167363 NA synonymous SNV ENSG00000167363:ENST00000300784:exon2:c.A187C:p.R63R NA NA 17q25.3 NA Name=RXRA,FOXA2_(SC-6554),TCF4,SP1,TAL1_(SC-12984),BHLHE40,Egr-1,HNF4A_(H-171),HDAC2_(SC-6296),E2F6,FOXA1_(C-20),FOSL2,FOXA1_(SC-101058),GATA-1,GABP Name=23 NA rs2253149 1 1 0.998 0.995008 1 1 0.9986 0.9818 1 1 1 1 0.98 0.998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134546 NA NA 1 0.977985 NA 0.978 NA 4.6686666 1193 18 25570228 25570228 G C exonic CDH2 NA synonymous SNV CDH2:NM_001792:exon10:c.C1431G:p.P477P exonic ENSG00000170558 NA synonymous SNV ENSG00000170558:ENST00000399380:exon9:c.C1338G:p.P446P,ENSG00000170558:ENST00000269141:exon10:c.C1431G:p.P477P Score=711;Name=lod=1032 NA 18q12.1 Score=713;Name=V$NRSF_01 NA NA NA rs1628684 0.99 0.99 0.991 0.99361 1 1 0.9986 0.9766 1 1 1 1 0.98 0.9982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.973613 NA NA 0.999884 0.981389 NA 0.993 NA 4.6685826 1193 20 8696907 8696907 T G intronic PLCB1 NA NA NA intronic ENSG00000182621 NA NA NA NA NA 20p12.3 NA NA NA NA rs2076689 0.17 0.17 0.132 0.134984 0.1064 0.3581 0.2032 0.0068 0.0593 0.11 0.35 0.21 0.01 0.1216 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.734605 1.734605 NA 0.103488 0.02769 ID=COSM149136;OCCURENCE=1(stomach) 0.08 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117921.2;CLNDSDB=.;CLNDSDBID=. 4.668512 1193 15 65350968 65350968 T A intronic RASL12 NA NA NA intronic ENSG00000103710 NA NA NA NA NA 15q22.31 NA Name=TCF4 Name=2 NA rs2232758 0.32 0.32 0.319 0.357428 0.4384 0.1984 0.3141 0.2678 0.59 0.44 0.2 0.31 0.28 0.4302 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.20504 3.20504 NA 0.46289 0.270436 NA 0.319 NA 4.66851 1193 18 33779821 33779821 C A exonic MOCOS NA synonymous SNV MOCOS:NM_017947:exon4:c.C475A:p.R159R exonic ENSG00000075643 NA synonymous SNV ENSG00000075643:ENST00000261326:exon4:c.C475A:p.R159R Score=432;Name=lod=76 NA 18q12.2 NA NA Name=4 NA rs646424 1 1 0.991 0.995407 1 1 0.9986 0.9834 1 1 1 1 0.98 0.9982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.215117 NA NA 1 0.978665 NA 0.986 NA 4.6684666 1193 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 1193 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 1193 18 59170304 59170304 C G exonic CDH20 NA synonymous SNV CDH20:NM_031891:exon4:c.C780G:p.V260V exonic ENSG00000101542 NA synonymous SNV ENSG00000101542:ENST00000536675:exon4:c.C780G:p.V260V,ENSG00000101542:ENST00000262717:exon5:c.C780G:p.V260V,ENSG00000101542:ENST00000538374:exon5:c.C780G:p.V260V Score=569;Name=lod=273 NA 18q21.33 Score=853;Name=V$FAC1_01 NA NA NA rs595093 1 1 0.999 0.995807 1 1 0.9986 0.9849 1 1 1 1 0.99 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.160092 NA NA 0.999884 0.986609 NA 0.993 NA 4.6680826 1193 11 47834592 47834592 G A exonic NUP160 NA synonymous SNV NUP160:NM_015231:exon15:c.C1794T:p.D598D exonic ENSG00000030066 NA synonymous SNV ENSG00000030066:ENST00000528501:exon8:c.C486T:p.D162D,ENSG00000030066:ENST00000528071:exon13:c.C1452T:p.D484D,ENSG00000030066:ENST00000378460:exon15:c.C1794T:p.D598D,ENSG00000030066:ENST00000530326:exon15:c.C1452T:p.D484D Score=435;Name=lod=78 NA 11p11.2 Score=681;Name=V$P53_01 NA NA NA rs7110289 1 1 0.997 0.99361 1 1 0.9986 0.9766 1 1 1 1 0.99 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.366839 NA NA 1 0.984098 NA 1 NA 4.6680666 1193 1 162344390 162344390 A G exonic C1orf111 NA synonymous SNV C1orf111:NM_182581:exon3:c.T234C:p.D78D exonic ENSG00000171722 NA synonymous SNV ENSG00000171722:ENST00000367935:exon3:c.T234C:p.D78D Score=272;Name=lod=17 NA 1q23.3 Score=867;Name=V$NFKAPPAB50_01 NA NA NA rs164159 0.99 0.99 0.999 0.996206 1 1 0.9971 0.9871 1 1 1 0.99 0.98 0.9989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.1957 NA NA 0.999767 0.987063 NA 0.986 NA 4.6679996 1193 19 42736267 42736267 A G exonic GSK3A NA synonymous SNV GSK3A:NM_019884:exon10:c.T1320C:p.L440L exonic ENSG00000105723 NA synonymous SNV ENSG00000105723:ENST00000398249:exon9:c.T1074C:p.L358L,ENSG00000105723:ENST00000222330:exon10:c.T1320C:p.L440L,ENSG00000105723:ENST00000453535:exon10:c.T1320C:p.L440L Score=593;Name=lod=344 NA 19q13.2 Score=847;Name=V$TST1_01 NA NA NA rs851609 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.27352 1.27352 NA 0.99907 1 NA 0.993 NA 4.6678966 1193 20 60892526 60892526 A G exonic LAMA5 NA synonymous SNV LAMA5:NM_005560:exon55:c.T7386C:p.D2462D exonic ENSG00000130702 NA synonymous SNV ENSG00000130702:ENST00000252999:exon55:c.T7386C:p.D2462D Score=410;Name=lod=62 NA 20q13.33 Score=824;Name=V$YY1_02 NA NA NA rs2427281 1 1 1 0.999201 0.999 1 1 0.9977 1 1 1 1 1 0.9998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422573 NA NA 1 0.99839 NA 0.87 NA 4.6678666 1193 4 55161391 55161391 T C exonic PDGFRA NA synonymous SNV PDGFRA:NM_006206:exon23:c.T3222C:p.D1074D exonic ENSG00000134853,ENSG00000145216 NA synonymous SNV ENSG00000134853:ENST00000257290:exon23:c.T3222C:p.D1074D,ENSG00000145216:ENST00000507166:exon24:c.T2502C:p.D834D Score=574;Name=lod=287 NA 4q12 Score=834;Name=V$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 1193 12 22063115 22063115 A G exonic ABCC9 NA synonymous SNV ABCC9:NM_005691:exon8:c.T1296C:p.P432P,ABCC9:NM_020297:exon8:c.T1296C:p.P432P exonic ENSG00000069431 NA synonymous SNV ENSG00000069431:ENST00000544039:exon2:c.T285C:p.P95P,ENSG00000069431:ENST00000261200:exon8:c.T1296C:p.P432P,ENSG00000069431:ENST00000261201:exon8:c.T1296C:p.P432P,ENSG00000069431:ENST00000345162:exon8:c.T1296C:p.P432P Score=660;Name=lod=640 NA 12p12.1 NA NA NA NA rs10770865 1 1 0.997 0.997204 1 1 0.9986 0.9902 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 1.298057 1.298057 NA 1 0.98956 NA 1 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000038583.1|RCV000123452.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.6676666 1193 6 33703230 33703230 G A exonic IP6K3 NA synonymous SNV IP6K3:NM_054111:exon2:c.C24T:p.D8D,IP6K3:NM_001142883:exon3:c.C24T:p.D8D exonic ENSG00000161896 NA synonymous SNV ENSG00000161896:ENST00000293756:exon2:c.C24T:p.D8D,ENSG00000161896:ENST00000451316:exon3:c.C24T:p.D8D NA NA 6p21.31 NA NA NA NA rs545787 0.34 0.34 0.385 0.333866 0.331 0.0675 0.2378 0.7171 0.1616 0.32 0.08 0.25 0.74 0.3044 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.137325 NA NA 0.363605 0.644803 ID=COSM451325;OCCURENCE=2(breast) 0.391 NA 4.6676616 1193 11 57571232 57571232 C T exonic CTNND1 NA synonymous SNV CTNND1:NM_001085469:exon5:c.C1257T:p.H419H,CTNND1:NM_001085463:exon6:c.C1257T:p.H419H,CTNND1:NM_001085464:exon6:c.C1257T:p.H419H,CTNND1:NM_001085465:exon6:c.C1257T:p.H419H,CTNND1:NM_001085466:exon6:c.C1257T:p.H419H,CTNND1:NM_001085467:exon6:c.C1257T:p.H419H,CTNND1:NM_001085468:exon6:c.C1257T:p.H419H,CTNND1:NM_001206890:exon6:c.C1257T:p.H419H,CTNND1:NM_001085462:exon7:c.C1560T:p.H520H,CTNND1:NM_001206883:exon7:c.C1398T:p.H466H,CTNND1:NM_001206884:exon7:c.C1398T:p.H466H,CTNND1:NM_001206886:exon7:c.C1398T:p.H466H,CTNND1:NM_001206887:exon7:c.C1398T:p.H466H,CTNND1:NM_001206888:exon7:c.C1398T:p.H466H,CTNND1:NM_001085458:exon8:c.C1560T:p.H520H,CTNND1:NM_001085459:exon8:c.C1560T:p.H520H,CTNND1:NM_001085460:exon8:c.C1560T:p.H520H,CTNND1:NM_001085461:exon8:c.C1560T:p.H520H,CTNND1:NM_001206885:exon8:c.C1560T:p.H520H,CTNND1:NM_001206889:exon8:c.C1398T:p.H466H,CTNND1:NM_001206891:exon8:c.C1398T:p.H466H,CTNND1:NM_001331:exon8:c.C1560T:p.H520H exonic ENSG00000198561 NA synonymous SNV ENSG00000198561:ENST00000525902:exon3:c.C591T:p.H197H,ENSG00000198561:ENST00000526772:exon3:c.C591T:p.H197H,ENSG00000198561:ENST00000527467:exon3:c.C591T:p.H197H,ENSG00000198561:ENST00000531014:exon3:c.C591T:p.H197H,ENSG00000198561:ENST00000533667:exon3:c.C591T:p.H197H,ENSG00000198561:ENST00000532245:exon5:c.C1257T:p.H419H,ENSG00000198561:ENST00000415361:exon6:c.C1257T:p.H419H,ENSG00000198561:ENST00000426142:exon6:c.C1257T:p.H419H,ENSG00000198561:ENST00000528232:exon6:c.C1257T:p.H419H,ENSG00000198561:ENST00000529986:exon6:c.C1257T:p.H419H,ENSG00000198561:ENST00000530094:exon6:c.C1257T:p.H419H,ENSG00000198561:ENST00000532463:exon6:c.C1257T:p.H419H,ENSG00000198561:ENST00000532787:exon6:c.C1257T:p.H419H,ENSG00000198561:ENST00000428599:exon7:c.C1560T:p.H520H,ENSG00000198561:ENST00000526357:exon7:c.C1398T:p.H466H,ENSG00000198561:ENST00000526938:exon7:c.C1560T:p.H520H,ENSG00000198561:ENST00000528621:exon7:c.C1398T:p.H466H,ENSG00000198561:ENST00000529873:exon7:c.C1398T:p.H466H,ENSG00000198561:ENST00000530748:exon7:c.C1398T:p.H466H,ENSG00000198561:ENST00000532844:exon7:c.C1398T:p.H466H,ENSG00000198561:ENST00000358694:exon8:c.C1560T:p.H520H,ENSG00000198561:ENST00000360682:exon8:c.C1560T:p.H520H,ENSG00000198561:ENST00000361332:exon8:c.C1560T:p.H520H,ENSG00000198561:ENST00000361391:exon8:c.C1560T:p.H520H,ENSG00000198561:ENST00000361796:exon8:c.C1560T:p.H520H,ENSG00000198561:ENST00000399039:exon8:c.C1560T:p.H520H,ENSG00000198561:ENST00000399050:exon8:c.C1560T:p.H520H,ENSG00000198561:ENST00000524630:exon8:c.C1560T:p.H520H,ENSG00000198561:ENST00000529526:exon8:c.C1398T:p.H466H,ENSG00000198561:ENST00000529919:exon8:c.C1560T:p.H520H,ENSG00000198561:ENST00000532649:exon8:c.C1398T:p.H466H,ENSG00000198561:ENST00000534579:exon8:c.C1398T:p.H466H Score=517;Name=lod=169 NA 11q12.1 Score=784;Name=V$HTF_01 NA NA NA rs11229137 1 1 0.996 0.996206 1 1 1 0.9856 1 1 1 1 0.99 0.9992 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.965715 NA NA 0.99988 0.993722 NA 1 NA 4.6675866 1193 14 93178191 93178191 A G exonic LGMN NA synonymous SNV LGMN:NM_005606:exon9:c.T720C:p.D240D,LGMN:NM_001008530:exon10:c.T720C:p.D240D exonic ENSG00000100600 NA synonymous SNV ENSG00000100600:ENST00000334869:exon9:c.T720C:p.D240D,ENSG00000100600:ENST00000555699:exon9:c.T720C:p.D240D,ENSG00000100600:ENST00000557434:exon9:c.T720C:p.D240D,ENSG00000100600:ENST00000393218:exon10:c.T720C:p.D240D Score=594;Name=lod=346 NA 14q32.12 Score=933;Name=V$HSF2_01 NA NA NA rs1951708 1 1 0.997 0.997005 1 1 0.9986 0.9894 1 1 1 1 0.99 0.9991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.316117 1.316117 NA 1 0.989106 NA 0.993 NA 4.6675666 1193 12 8926011 8926011 T C exonic RIMKLB NA synonymous SNV RIMKLB:NM_020734:exon7:c.T792C:p.D264D exonic ENSG00000166532 NA synonymous SNV ENSG00000166532:ENST00000535829:exon6:c.T792C:p.D264D,ENSG00000166532:ENST00000538135:exon6:c.T792C:p.D264D,ENSG00000166532:ENST00000544257:exon6:c.T792C:p.D264D,ENSG00000166532:ENST00000357529:exon7:c.T792C:p.D264D Score=823;Name=lod=2957 NA 12p13.31 Score=737;Name=V$PPARG_02 NA NA NA rs2969089 1 1 0.998 0.998403 1 1 1 0.9939 1 1 1 1 0.99 0.9996 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.267586 NA NA 0.999763 0.995663 NA 1 NA 4.6673036 1193 22 47058992 47058992 T C exonic GRAMD4 NA synonymous SNV GRAMD4:NM_015124:exon5:c.T522C:p.F174F exonic ENSG00000075240 NA synonymous SNV ENSG00000075240:ENST00000361034:exon5:c.T522C:p.F174F,ENSG00000075240:ENST00000406902:exon6:c.T522C:p.F174F Score=519;Name=lod=171 NA 22q13.31 Score=824;Name=V$RREB1_01 NA NA NA rs2542040 1 1 0.996 0.999401 1 0.997 1 1 1 1 0.99 1 1 0.9994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.232317 NA NA 1 0.999773 NA 0.993 NA 4.6672666 1193 11 57958775 57958775 C T exonic OR9Q2 NA synonymous SNV OR9Q2:NM_001005283:exon1:c.C813T:p.D271D exonic ENSG00000186513 NA synonymous SNV ENSG00000186513:ENST00000311591:exon1:c.C813T:p.D271D NA NA 11q12.1 NA NA NA NA rs7120468 0.4 0.4 0.389 0.423922 0.3082 0.752 0.3847 0.2209 0.5072 0.3 0.71 0.38 0.22 0.3713 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.306973 NA NA 0.319949 0.242617 ID=COSM147237;OCCURENCE=1(stomach) 0.377 NA 4.6672176 1193 3 121238749 121238749 G A exonic POLQ NA synonymous SNV POLQ:NM_199420:exon9:c.C1437T:p.G479G exonic ENSG00000051341 NA synonymous SNV ENSG00000051341:ENST00000264233:exon9:c.C1437T:p.G479G Score=598;Name=lod=360 NA 3q13.33 Score=805;Name=V$CMYB_01 NA NA NA rs702018 1 1 0.999 0.997404 1 1 0.9986 0.9909 1 1 1 1 1 0.9995 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.187556 NA NA 1 0.995461 NA 1 NA 4.6671666 1193 19 48244194 48244194 A G exonic EHD2 NA synonymous SNV EHD2:NM_014601:exon6:c.A1137G:p.L379L exonic ENSG00000024422 NA synonymous SNV ENSG00000024422:ENST00000538399:exon5:c.A729G:p.L243L,ENSG00000024422:ENST00000263277:exon6:c.A1137G:p.L379L Score=545;Name=lod=219 NA 19q13.33 NA NA NA NA rs7255434 0.52 0.52 0.464 0.498003 0.672 0.5605 0.5519 0.1346 0.7076 0.68 0.56 0.57 0.16 0.6293 0.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215608 NA NA 0.698256 0.239219 NA 0.572 NA 4.6671106 1193 5 41158863 41158863 G A exonic C6 NA synonymous SNV C6:NM_000065:exon13:c.C1881T:p.D627D,C6:NM_001115131:exon13:c.C1881T:p.D627D exonic ENSG00000039537 NA synonymous SNV ENSG00000039537:ENST00000263413:exon13:c.C1881T:p.D627D,ENSG00000039537:ENST00000337836:exon13:c.C1881T:p.D627D Score=449;Name=lod=89 NA 5p13.1 NA NA NA NA rs6866352 1 1 NA 0.998203 1 0.9911 1 1 1 1 1 1 1 0.9996 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.359886 NA NA NA NA NA 0.993 NA 4.6670666 1193 1 2520302 2520302 T C intronic FAM213B NA NA NA intronic ENSG00000157870 NA NA NA NA NA 1p36.32 NA Name=ZNF263 NA NA rs6667564 0.5 0.5 0.499 0.560703 0.333 0.5427 0.4885 0.8041 0.5358 0.33 0.48 0.45 0.79 NA 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225346 NA NA NA NA NA 0.565 NA 4.667 1193 11 18467821 18467821 T C exonic LDHC NA synonymous SNV LDHC:NM_002301:exon7:c.T775C:p.L259L,LDHC:NM_017448:exon7:c.T775C:p.L259L exonic ENSG00000166796 NA synonymous SNV ENSG00000166796:ENST00000536880:exon6:c.T733C:p.L245L,ENSG00000166796:ENST00000280704:exon7:c.T775C:p.L259L,ENSG00000166796:ENST00000541669:exon7:c.T775C:p.L259L Score=581;Name=lod=307 NA 11p15.1 Score=792;Name=V$PBX1_02 NA NA NA rs2658565 0.95 0.95 0.997 0.998802 1 1 1 0.9955 1 0.94 0.97 0.98 0.91 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.288046 NA NA 1 0.996135 NA 1 NA 4.6669666 1193 5 177547247 177547247 T C exonic N4BP3 NA synonymous SNV N4BP3:NM_015111:exon3:c.T399C:p.S133S exonic ENSG00000145911 NA synonymous SNV ENSG00000145911:ENST00000274605:exon3:c.T399C:p.S133S Score=489;Name=lod=130 NA 5q35.3 Score=871;Name=V$OCT1_Q6 NA NA NA rs7719667 1 1 1 0.999601 1 1 1 0.9985 1 1 1 1 0.99 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 0.503741 NA NA 1 0.997049 NA 0.993 NA 4.6668666 1193 11 64621856 64621856 A G exonic EHD1 NA synonymous SNV EHD1:NM_006795:exon5:c.T1554C:p.P518P exonic ENSG00000110047 NA synonymous SNV ENSG00000110047:ENST00000320631:exon5:c.T1554C:p.P518P,ENSG00000110047:ENST00000359393:exon7:c.T1554C:p.P518P Score=645;Name=lod=555 NA 11q13.1 NA Name=Pol2-4H8 NA NA rs3897618 1 1 1 1 1 1 1 1 1 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 0.430369 NA NA 0.999884 1 NA 0.964 NA 4.6667826 1193 11 118529069 118529069 G C exonic TREH NA unknown UNKNOWN exonic ENSG00000118094 NA nonsynonymous SNV ENSG00000118094:ENST00000530256:exon13:c.C1312G:p.P438A,ENSG00000118094:ENST00000397925:exon14:c.C1588G:p.P530A,ENSG00000118094:ENST00000525958:exon14:c.C1588G:p.P530A,ENSG00000118094:ENST00000264029:exon15:c.C1681G:p.P561A,ENSG00000118094:ENST00000529101:exon15:c.C1681G:p.P561A NA NA 11q23.3 NA NA NA NA rs6589670 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.56 T 0.0 B 0.0 B 0.957 N 1.000 P . . 2.61 T -1.023 T 0.000 T 0.14 0.339 5.841 1.33 0.113 -0.719 1.536 0.339356 NA 1 NA NA NA 1 NA 4.6666667 1193 1 47685455 47685455 T C exonic TAL1 NA synonymous SNV TAL1:NM_003189:exon4:c.A933G:p.K311K exonic ENSG00000162367 NA synonymous SNV ENSG00000162367:ENST00000294339:exon4:c.A933G:p.K311K,ENSG00000162367:ENST00000371883:exon4:c.A939G:p.K313K,ENSG00000162367:ENST00000371884:exon5:c.A933G:p.K311K Score=482;Name=lod=121 NA 1p33 NA NA NA NA rs927462 1 1 1 1 1 1 1 1 1 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 -0.217993 NA NA NA NA NA 0.826 NA 4.6666666 1193 1 64608329 64608329 G T exonic ROR1 NA synonymous SNV ROR1:NM_001083592:exon7:c.G1170T:p.A390A,ROR1:NM_005012:exon7:c.G1170T:p.A390A exonic ENSG00000185483 NA synonymous SNV ENSG00000185483:ENST00000371079:exon7:c.G1170T:p.A390A,ENSG00000185483:ENST00000371080:exon7:c.G1170T:p.A390A Score=517;Name=lod=168 NA 1p31.3 NA NA NA NA rs2762833 0.9 0.9 1 1 1 1 1 1 1 0.9 0.92 0.94 0.86 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 0.961627 NA NA NA NA NA 1 NA 4.6666666 1193 2 207621759 207621759 A G exonic MDH1B NA synonymous SNV MDH1B:NM_001039845:exon4:c.T276C:p.Y92Y exonic ENSG00000138400 NA synonymous SNV ENSG00000138400:ENST00000374412:exon4:c.T276C:p.Y92Y,ENSG00000138400:ENST00000392214:exon4:c.T276C:p.Y92Y,ENSG00000138400:ENST00000432911:exon4:c.T276C:p.Y92Y,ENSG00000138400:ENST00000436472:exon4:c.T276C:p.Y92Y,ENSG00000138400:ENST00000454776:exon4:c.T276C:p.Y92Y Score=395;Name=lod=54 NA 2q33.3 NA Name=JunD NA NA rs1990849 1 1 1 1 1 1 1 1 1 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 -1.032058 NA NA 1 0.999546 NA 1 NA 4.6666666 1193 3 14197987 14197987 A T exonic XPC NA synonymous SNV XPC:NM_001145769:exon10:c.T1770A:p.A590A,XPC:NM_004628:exon10:c.T1881A:p.A627A exonic ENSG00000154767 NA synonymous SNV ENSG00000154767:ENST00000285021:exon10:c.T1881A:p.A627A,ENSG00000154767:ENST00000449060:exon10:c.T1770A:p.A590A NA NA 3p25.1 NA NA Name=8 NA rs2958057 1 1 1 1 1 1 1 1 1 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 1.077233 NA NA NA NA NA 1 NA 4.6666666 1193 3 119118104 119118104 A G exonic ARHGAP31 NA synonymous SNV ARHGAP31:NM_020754:exon9:c.A1065G:p.V355V exonic ENSG00000031081 NA synonymous SNV ENSG00000031081:ENST00000264245:exon9:c.A1065G:p.V355V Score=490;Name=lod=131 NA 3q13.33 NA NA NA NA rs4688001 1 1 1 1 1 1 1 1 1 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 1.460554 1.460554 NA NA NA NA 1 NA 4.6666666 1193 5 76704849 76704849 T C exonic PDE8B NA synonymous SNV PDE8B:NM_001029851:exon11:c.T1206C:p.P402P,PDE8B:NM_001029853:exon13:c.T1437C:p.P479P,PDE8B:NM_001029854:exon13:c.T1356C:p.P452P,PDE8B:NM_003719:exon14:c.T1497C:p.P499P exonic ENSG00000113231 NA synonymous SNV ENSG00000113231:ENST00000346042:exon11:c.T1206C:p.P402P,ENSG00000113231:ENST00000340978:exon13:c.T1356C:p.P452P,ENSG00000113231:ENST00000342343:exon13:c.T1437C:p.P479P,ENSG00000113231:ENST00000264917:exon14:c.T1497C:p.P499P NA NA 5q13.3 NA NA NA NA rs186753 1 1 1 NA NA NA NA NA NA 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 0.963013 NA NA NA NA NA 1 NA 4.6666666 1193 7 150556056 150556056 G C exonic ABP1 NA synonymous SNV ABP1:NM_001091:exon3:c.G1776C:p.T592T,ABP1:NM_001272072:exon3:c.G1776C:p.T592T exonic ENSG00000002726 NA synonymous SNV ENSG00000002726:ENST00000360937:exon3:c.G1776C:p.T592T,ENSG00000002726:ENST00000416793:exon3:c.G1776C:p.T592T,ENSG00000002726:ENST00000467291:exon5:c.G1776C:p.T592T,ENSG00000002726:ENST00000493429:exon5:c.G1776C:p.T592T Score=403;Name=lod=58 NA 7q36.1 NA NA NA NA rs6943420 0.92 0.92 NA 1 1 1 1 1 1 0.9 0.93 0.95 0.91 1 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 0.39552 NA NA NA NA NA NA NA 4.6666666 1193 9 13112116 13112116 A G exonic MPDZ NA synonymous SNV MPDZ:NM_001261407:exon41:c.T5445C:p.I1815I,MPDZ:NM_001261406:exon42:c.T5532C:p.I1844I,MPDZ:NM_003829:exon42:c.T5544C:p.I1848I exonic ENSG00000107186 NA synonymous SNV ENSG00000107186:ENST00000438511:exon12:c.T1254C:p.I418I,ENSG00000107186:ENST00000541093:exon12:c.T333C:p.I111I,ENSG00000107186:ENST00000538841:exon21:c.T2208C:p.I736I,ENSG00000107186:ENST00000545857:exon21:c.T2439C:p.I813I,ENSG00000107186:ENST00000536827:exon40:c.T5445C:p.I1815I,ENSG00000107186:ENST00000381022:exon41:c.T5544C:p.I1848I,ENSG00000107186:ENST00000447879:exon41:c.T5532C:p.I1844I,ENSG00000107186:ENST00000381015:exon42:c.T5631C:p.I1877I,ENSG00000107186:ENST00000541718:exon42:c.T5544C:p.I1848I,ENSG00000107186:ENST00000319217:exon43:c.T5631C:p.I1877I,ENSG00000107186:ENST00000546205:exon44:c.T5673C:p.I1891I Score=557;Name=lod=244 NA 9p23 Score=801;Name=V$TCF11MAFG_01 NA NA NA rs10809904 1 1 1 1 1 1 1 1 1 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 0.271383 NA NA 1 0.99974 NA 0.993 NA 4.6666666 1193 10 93841227 93841227 A G exonic CPEB3 NA synonymous SNV CPEB3:NM_001178137:exon9:c.T1677C:p.Y559Y,CPEB3:NM_014912:exon9:c.T1719C:p.Y573Y exonic ENSG00000107864 NA synonymous SNV ENSG00000107864:ENST00000265997:exon9:c.T1719C:p.Y573Y,ENSG00000107864:ENST00000412050:exon9:c.T1677C:p.Y559Y Score=683;Name=lod=796 NA 10q23.32 NA NA NA NA rs2676811 1 1 1 1 1 1 1 1 1 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 0.916946 NA NA NA NA NA 1 NA 4.6666666 1193 11 27390089 27390089 T C exonic LGR4 NA synonymous SNV LGR4:NM_018490:exon18:c.A2181G:p.K727K exonic ENSG00000205213 NA synonymous SNV ENSG00000205213:ENST00000389858:exon17:c.A2109G:p.K703K,ENSG00000205213:ENST00000379214:exon18:c.A2181G:p.K727K Score=493;Name=lod=135 NA 11p14.1 NA NA NA NA rs2447997 1 1 1 1 1 1 1 1 1 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 -0.473945 NA NA NA NA NA 1 NA 4.6666666 1193 11 60638470 60638470 A G exonic ZP1 NA synonymous SNV ZP1:NM_207341:exon5:c.A867G:p.V289V exonic ENSG00000149506 NA synonymous SNV ENSG00000149506:ENST00000278853:exon5:c.A867G:p.V289V Score=369;Name=lod=42 NA 11q12.2 NA NA NA NA rs566411 1 1 1 1 1 1 1 1 1 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 -0.987683 NA NA NA NA NA 1 NA 4.6666666 1193 11 65383896 65383896 G C exonic PCNXL3 NA synonymous SNV PCNXL3:NM_032223:exon1:c.G114C:p.V38V exonic ENSG00000197136 NA synonymous SNV ENSG00000197136:ENST00000355703:exon1:c.G114C:p.V38V Score=584;Name=lod=316 NA 11q13.1 NA NA NA NA rs7947140 1 1 1 1 1 1 1 1 1 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 1.2176 NA NA NA NA NA 1 NA 4.6666666 1193 12 9578197 9578197 A T ncRNA_exonic DDX12P NA NA NA ncRNA_exonic ENSG00000214826 NA NA NA NA NA 12p13.31 NA NA NA NA rs11534759 NA NA 0.84 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 -0.000473 NA NA NA NA NA 0.007 NA 4.6666666 1193 12 88547277 88547277 T C exonic TMTC3 NA synonymous SNV TMTC3:NM_181783:exon3:c.T399C:p.H133H exonic ENSG00000139324 NA synonymous SNV ENSG00000139324:ENST00000266712:exon3:c.T399C:p.H133H,ENSG00000139324:ENST00000547034:exon3:c.T399C:p.H133H,ENSG00000139324:ENST00000549011:exon3:c.T399C:p.H133H Score=577;Name=lod=294 NA 12q21.32 Score=857;Name=V$AHRARNT_01 NA NA NA rs2468230 1 1 1 0.9998 1 1 1 0.9992 1 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 0.750521 NA NA 1 0.999773 NA 1 NA 4.6666666 1193 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 1193 15 57918090 57918090 A G exonic GCOM1,MYZAP NA synonymous SNV GCOM1:NM_001018090:exon5:c.A525G:p.Q175Q,GCOM1:NM_001018091:exon5:c.A525G:p.Q175Q,MYZAP:NM_001018100:exon5:c.A525G:p.Q175Q,MYZAP:NM_152451:exon5:c.A525G:p.Q175Q exonic ENSG00000137878,ENSG00000263155 NA synonymous SNV ENSG00000137878:ENST00000380561:exon4:c.A432G:p.Q144Q,ENSG00000137878:ENST00000396180:exon4:c.A432G:p.Q144Q,ENSG00000137878:ENST00000468886:exon4:c.A432G:p.Q144Q,ENSG00000137878:ENST00000496101:exon4:c.A432G:p.Q144Q,ENSG00000263155:ENST00000267853:exon5:c.A525G:p.Q175Q,ENSG00000263155:ENST00000380565:exon5:c.A525G:p.Q175Q,ENSG00000137878:ENST00000380568:exon5:c.A525G:p.Q175Q,ENSG00000137878:ENST00000380569:exon5:c.A525G:p.Q175Q,ENSG00000137878:ENST00000460962:exon5:c.A525G:p.Q175Q,ENSG00000137878:ENST00000463717:exon5:c.A525G:p.Q175Q,ENSG00000137878:ENST00000477282:exon5:c.A525G:p.Q175Q,ENSG00000137878:ENST00000482814:exon5:c.A525G:p.Q175Q,ENSG00000137878:ENST00000488175:exon5:c.A525G:p.Q175Q,ENSG00000137878:ENST00000496627:exon5:c.A525G:p.Q175Q,ENSG00000137878:ENST00000572390:exon5:c.A525G:p.Q175Q,ENSG00000137878:ENST00000574161:exon5:c.A525G:p.Q175Q,ENSG00000137878:ENST00000587652:exon5:c.A525G:p.Q175Q Score=405;Name=lod=59 NA 15q21.3 NA NA NA NA rs2958059 1 1 1 1 1 1 1 1 1 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 2.241358 2.241358 NA NA NA NA 1 NA 4.6666666 1193 15 57967219 57967219 T C exonic GCOM1,MYZAP NA synonymous SNV MYZAP:NM_152451:exon11:c.T1173C:p.T391T,GCOM1:NM_001018090:exon12:c.T1257C:p.T419T,GCOM1:NM_001018091:exon12:c.T1257C:p.T419T,MYZAP:NM_001018100:exon12:c.T1257C:p.T419T exonic ENSG00000137878,ENSG00000263155 NA synonymous SNV ENSG00000137878:ENST00000380560:exon10:c.T1050C:p.T350T,ENSG00000137878:ENST00000380561:exon10:c.T1080C:p.T360T,ENSG00000137878:ENST00000471563:exon10:c.T1050C:p.T350T,ENSG00000137878:ENST00000496101:exon10:c.T1080C:p.T360T,ENSG00000263155:ENST00000380565:exon11:c.T1173C:p.T391T,ENSG00000137878:ENST00000396180:exon11:c.T1164C:p.T388T,ENSG00000137878:ENST00000460962:exon11:c.T1173C:p.T391T,ENSG00000137878:ENST00000468886:exon11:c.T1164C:p.T388T,ENSG00000137878:ENST00000572390:exon11:c.T1173C:p.T391T,ENSG00000263155:ENST00000267853:exon12:c.T1257C:p.T419T,ENSG00000137878:ENST00000380568:exon12:c.T1257C:p.T419T,ENSG00000137878:ENST00000380569:exon12:c.T1257C:p.T419T,ENSG00000137878:ENST00000488175:exon12:c.T1257C:p.T419T,ENSG00000137878:ENST00000574161:exon12:c.T1257C:p.T419T,ENSG00000137878:ENST00000587652:exon12:c.T1257C:p.T419T Score=545;Name=lod=218 NA 15q21.3 Score=868;Name=V$ATF6_01 NA NA NA rs1991252 1 1 1 1 1 1 1 1 1 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 0.597468 NA NA 1 0.999772 NA 1 NA 4.6666666 1193 20 36030939 36030939 G C exonic SRC NA synonymous SNV SRC:NM_005417:exon12:c.G1218C:p.A406A,SRC:NM_198291:exon12:c.G1218C:p.A406A exonic ENSG00000197122 NA synonymous SNV ENSG00000197122:ENST00000358208:exon10:c.G1218C:p.A406A,ENSG00000197122:ENST00000373558:exon10:c.G1236C:p.A412A,ENSG00000197122:ENST00000373567:exon10:c.G1218C:p.A406A,ENSG00000197122:ENST00000360723:exon11:c.G1236C:p.A412A,ENSG00000197122:ENST00000445403:exon11:c.G1218C:p.A406A,ENSG00000197122:ENST00000373578:exon12:c.G1218C:p.A406A NA NA 20q11.23 NA Name=Pol2 NA NA rs1885257 0.99 0.99 1 1 1 1 1 1 1 0.99 0.99 0.99 0.98 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 0.734227 NA NA NA NA NA 1 NA 4.6666666 1193 X 49767832 49767832 A G ncRNA_exonic MIR532 NA NA NA ncRNA_exonic ENSG00000207758 NA NA NA Score=513;Name=lod=162 NA Xp11.23 NA NA NA NA rs456615 0.94 0.94 1 NA NA NA NA NA NA 0.94 0.94 0.96 0.91 1 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 1.200822 NA NA NA NA NA 0.746 NA 4.6666666 1193 X 49767835 49767835 A G ncRNA_exonic MIR532 NA NA NA ncRNA_exonic ENSG00000207758 NA NA NA Score=513;Name=lod=162 NA Xp11.23 NA NA NA NA rs456617 1 1 1 NA NA NA NA NA NA 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 0.72363 NA NA NA NA NA 0.746 NA 4.6666666 1193 X 105153001 105153001 A G exonic NRK NA synonymous SNV NRK:NM_198465:exon13:c.A1368G:p.K456K exonic ENSG00000123572 NA synonymous SNV ENSG00000123572:ENST00000243300:exon13:c.A1368G:p.K456K,ENSG00000123572:ENST00000428173:exon13:c.A1371G:p.K457K NA NA Xq22.3 NA NA NA NA rs209372 1 1 1 NA NA NA NA NA NA 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 -1.038497 NA NA NA NA NA 0.739 NA 4.6666666 1193 19 38946182 38946182 G A exonic RYR1 NA synonymous SNV RYR1:NM_000540:exon15:c.G1668A:p.S556S,RYR1:NM_001042723:exon15:c.G1668A:p.S556S exonic ENSG00000196218 NA synonymous SNV ENSG00000196218:ENST00000355481:exon15:c.G1668A:p.S556S,ENSG00000196218:ENST00000359596:exon15:c.G1668A:p.S556S,ENSG00000196218:ENST00000360985:exon15:c.G1668A:p.S556S NA NA 19q13.2 NA NA NA NA rs2288888 0.64 0.64 0.661 0.571286 0.6918 0.6052 0.683 0.5098 0.4162 0.69 0.62 0.71 0.51 0.6366 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.509828 NA NA 0.672093 0.554017 NA 0.667 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079135.1|RCV000119582.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.6661736 1193 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 1193 7 142162257 142162257 C A intergenic LOC730441,MTRNR2L6 dist=190189;dist=211874 NA NA intronic ENSG00000211724 NA NA NA NA NA 7q34 NA Name=GATA-1 NA NA rs373015008 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 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 -0.486081 NA NA 0.000608 0 NA NA NA 4.6658587 1193 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 1193 6 130166908 130166908 T G intronic TMEM244 NA NA NA intronic ENSG00000203756 NA NA NA Score=243;Name=lod=13 NA 6q22.33 NA NA NA NA rs17396809 0.06 0.06 0.044 0.0571086 0.1153 0.0149 0.072 0.0106 0.093 0.11 0.02 0.09 0.01 0.0917 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.147232 NA NA 0.127326 0.028143 NA 0.029 NA 4.665674 1193 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 1193 19 42558629 42558629 G A intronic GRIK5 NA NA NA intronic ENSG00000105737 NA NA NA NA NA 19q13.2 NA Name=NRSF,Sin3Ak-20,Egr-1,E2F6_(H-50),E2F6 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 1194 7 149515796 149515796 C T exonic SSPO NA synonymous SNV SSPO:NM_198455:exon83:c.C11697T:p.P3899P ncRNA_exonic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs1557956 0.19 0.19 0.16 0.201278 0.1541 0.1746 0.1945 0.2474 0.2198 0.15 0.19 0.21 0.23 0.1828 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.34015 NA NA 0.165099 0.198232 NA 0.101 NA 4.6646676 1194 2 226447735 226447735 C T exonic NYAP2 NA synonymous SNV NYAP2:NM_020864:exon4:c.C1602T:p.S534S exonic ENSG00000144460 NA synonymous SNV ENSG00000144460:ENST00000272907:exon4:c.C1602T:p.S534S Score=462;Name=lod=101 NA 2q36.3 NA NA NA NA rs3828256 0.55 0.55 0.494 0.534145 0.6928 0.5288 0.7147 0.1921 0.7106 0.7 0.54 0.7 0.23 0.6458 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 0.145233 NA NA 0.663955 0.313804 ID=COSM442407;OCCURENCE=1(breast) 0.5 NA 4.6641116 1194 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$SOX9_B1 NA NA NA rs10149229 0.69 0.69 0.718 0.689896 0.66 0.5337 0.6571 0.8941 0.6288 0.67 0.57 0.65 0.87 0.6666 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.242386 NA NA 0.676415 0.846278 NA 0.616 NA 4.6636516 1194 8 19822810 19822810 C T intronic LPL NA NA NA intronic ENSG00000175445 NA NA NA NA NA 8p21.3 NA NA Name=3 NA rs11570891 0.1 0.1 0.094 0.0930511 0.1352 0.12 0.0663 0.0613 0.0838 0.13 0.11 0.08 0.05 0.0972 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268051 NA NA 0.104186 0.067408 NA 0.051 NA 4.663414 1194 1 246021941 246021941 T C exonic SMYD3 NA synonymous SNV SMYD3:NM_001167740:exon10:c.A933G:p.A311A,SMYD3:NM_022743:exon10:c.A756G:p.A252A exonic ENSG00000185420 NA synonymous SNV ENSG00000185420:ENST00000391836:exon7:c.A366G:p.A122A,ENSG00000185420:ENST00000388985:exon10:c.A933G:p.A311A,ENSG00000185420:ENST00000490107:exon10:c.A756G:p.A252A,ENSG00000185420:ENST00000541742:exon10:c.A756G:p.A252A NA NA 1q44 Score=802;Name=V$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 1194 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 1194 10 32344747 32344747 G A intronic KIF5B NA NA NA intronic ENSG00000170759 NA NA NA NA NA 10p11.22 NA Name=HA-E2F1,CHD2_(N-1250),Pol2,Pol2-4H8,TAF1,ELF1_(SC-631),TCF4,PU.1,TBP NA NA rs211299 0.07 0.07 0.067 0.0684904 0.1143 0.001 0.049 0.056 0.1217 0.13 NA 0.07 0.06 0.1048 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.132207 NA NA 0.118372 0.062642 NA 0.13 NA 4.662528 1194 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 1194 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 1194 5 134343799 134343799 A G exonic CATSPER3 NA synonymous SNV CATSPER3:NM_178019:exon4:c.A645G:p.A215A exonic ENSG00000152705 NA synonymous SNV ENSG00000152705:ENST00000282611:exon4:c.A645G:p.A215A NA NA 5q31.1 NA NA NA NA rs177252 0.47 0.47 0.469 0.508986 0.3191 0.5615 0.4078 0.6415 0.5429 0.34 0.58 0.4 0.63 0.3879 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.97466 NA NA 0.299535 0.576941 NA 0.384 NA 4.6601316 1194 20 62378349 62378349 C T exonic ZBTB46 NA synonymous SNV ZBTB46:NM_025224:exon5:c.G1704A:p.E568E exonic ENSG00000130584 NA synonymous SNV ENSG00000130584:ENST00000395104:exon4:c.G1704A:p.E568E,ENSG00000130584:ENST00000245663:exon5:c.G1704A:p.E568E,ENSG00000130584:ENST00000302995:exon5:c.G1704A:p.E568E NA NA 20q13.33 NA NA NA NA rs5019252 0.31 0.31 0.301 0.269569 0.336 0.3472 0.379 0.1498 0.2055 0.34 0.34 0.37 0.17 0.3426 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.492743 NA NA 0.328365 0.175159 ID=COSM1566143;OCCURENCE=1(large_intestine) 0.435 NA 4.6597016 1194 3 46484964 46484964 G A exonic LTF NA synonymous SNV LTF:NM_001199149:exon13:c.C1491T:p.N497N,LTF:NM_002343:exon13:c.C1623T:p.N541N exonic ENSG00000012223 NA synonymous SNV ENSG00000012223:ENST00000231751:exon13:c.C1623T:p.N541N,ENSG00000012223:ENST00000417439:exon13:c.C1617T:p.N539N,ENSG00000012223:ENST00000426532:exon13:c.C1491T:p.N497N,ENSG00000012223:ENST00000443496:exon16:c.C1584T:p.N528N NA NA 3p21.31 NA NA NA NA rs1042073 0.44 0.44 0.425 0.448882 0.337 0.6409 0.2997 0.4115 0.5225 0.34 0.64 0.29 0.47 0.3691 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.233607 NA NA 0.30121 0.400136 NA 0.333 NA 4.6593566 1194 3 129291751 129291751 T C exonic PLXND1 NA synonymous SNV PLXND1:NM_015103:exon14:c.A2871G:p.P957P exonic ENSG00000004399 NA synonymous SNV ENSG00000004399:ENST00000324093:exon14:c.A2871G:p.P957P,ENSG00000004399:ENST00000393239:exon14:c.A2871G:p.P957P NA NA 3q22.1 NA NA NA NA rs2244708 0.43 0.43 0.433 0.430312 0.3479 0.5119 0.2911 0.6036 0.2955 0.34 0.49 0.3 0.59 0.3429 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.849034 NA NA 0.316977 0.574932 ID=COSM1418852;OCCURENCE=1(large_intestine) 0.507 NA 4.6588896 1194 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 1194 10 47000146 47000146 C T exonic GPRIN2 NA synonymous SNV GPRIN2:NM_014696:exon3:c.C1266T:p.P422P exonic ENSG00000204175 NA synonymous SNV ENSG00000204175:ENST00000374314:exon1:c.C1266T:p.P422P,ENSG00000204175:ENST00000374317:exon3:c.C1266T:p.P422P NA NA 10q11.22 NA NA NA NA rs3127684 0.55 0.55 NA 0.503395 0.507 0.505 0.5058 0.4992 0.502 0.56 0.54 0.55 0.57 0.5016 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.095776 NA NA NA NA NA 0.464 NA 4.6580666 1194 2 231077725 231077725 A G exonic SP110 NA nonsynonymous SNV SP110:NM_004509:exon4:c.T334C:p.W112R,SP110:NM_004510:exon4:c.T334C:p.W112R,SP110:NM_080424:exon4:c.T334C:p.W112R,SP110:NM_001185015:exon5:c.T352C:p.W118R exonic ENSG00000135899 NA nonsynonymous SNV ENSG00000135899:ENST00000258381:exon4:c.T334C:p.W112R,ENSG00000135899:ENST00000258382:exon4:c.T334C:p.W112R,ENSG00000135899:ENST00000358662:exon4:c.T334C:p.W112R,ENSG00000135899:ENST00000392048:exon4:c.T334C:p.W112R,ENSG00000135899:ENST00000455674:exon4:c.T196C:p.W66R,ENSG00000135899:ENST00000409815:exon5:c.T334C:p.W112R,ENSG00000135899:ENST00000540870:exon5:c.T352C:p.W118R NA NA 2q37.1 NA NA NA NA rs1129411 0.94 0.94 0.944 0.951078 0.8827 0.996 0.9006 0.997 0.9489 0.89 1 0.89 0.99 0.9091 1 0.35 T 0.003 B 0.002 B 0.207 N 1.000 P 0 N 3.11 T -1.026 T 0.000 T 0.59 -1.612 0.013 -0.859 -0.430 -0.194 6.193 -1.612435 NA 0.41 0.883488 0.975942 NA 0.877 NA 4.6580454 1194 15 91010776 91010776 T C exonic IQGAP1 NA synonymous SNV IQGAP1:NM_003870:exon18:c.T2130C:p.P710P exonic ENSG00000140575 NA synonymous SNV ENSG00000140575:ENST00000560738:exon5:c.T414C:p.P138P,ENSG00000140575:ENST00000268182:exon18:c.T2130C:p.P710P NA NA 15q26.1 NA NA NA NA rs1505936 0.43 0.43 0.443 0.436102 0.328 0.377 0.2695 0.7239 0.3374 0.34 0.39 0.28 0.71 0.3556 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.059425 NA NA 0.325151 0.680846 NA 0.507 NA 4.6579156 1194 10 29932918 29932918 G A intronic SVIL NA NA NA intronic ENSG00000197321 NA NA NA Score=272;Name=lod=17 NA 10p11.23 NA NA Name=45 NA rs2488689 0.44 0.44 0.469 0.443091 0.4563 0.3581 0.3213 0.6029 0.3875 0.44 0.37 0.35 0.6 0.4354 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.24316 NA NA 0.450779 0.55137 NA 0.449 NA 4.657521 1194 7 149521544 149521544 C T exonic SSPO NA synonymous SNV SSPO:NM_198455:exon95:c.C13623T:p.S4541S ncRNA_exonic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs12673475 0.16 0.16 0.121 0.164936 0.1551 0.1736 0.1931 0.1097 0.2209 0.15 0.19 0.2 0.09 0.1845 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.286568 NA NA 0.169737 0.113327 NA 0.116 NA 4.6573296 1194 6 159672455 159672455 C T exonic FNDC1 NA synonymous SNV FNDC1:NM_032532:exon17:c.C4956T:p.D1652D exonic ENSG00000164694 NA synonymous SNV ENSG00000164694:ENST00000340366:exon16:c.C4767T:p.D1589D,ENSG00000164694:ENST00000297267:exon17:c.C4956T:p.D1652D NA NA 6q25.3 NA NA NA NA rs294899 0.48 0.48 0.448 0.450479 0.7087 0.3036 0.6297 0.1914 0.5593 0.72 0.3 0.67 0.2 0.605 0.72 . . . . . . . . 1.000 P . . . . -1.042 T 0.045 T . 0.511 6.772 -0.76 -0.055 -0.658 6.463 0.511325 NA NA 0.695776 0.291567 NA 0.536 NA 4.6571906 1194 16 88620195 88620195 T G intergenic ZFPM1,ZC3H18 dist=18621;dist=16594 NA NA intergenic ENSG00000179588,ENSG00000158545 dist=16771;dist=16594 NA NA NA NA 16q24.2 NA NA NA NA rs2879897 0.44 0.44 0.421 0.385783 0.5954 0.1687 0.4409 0.4319 0.2924 0.61 0.17 0.49 0.44 0.484 0.61 0 D 0.927 P 0.801 P . . . . . . . . -0.931 T 0.000 T 0.022 0.316 5.71 0.81 0.585 0.909 3.830 0.315568 NA NA 0.59686 0.44859 ID=COSM435909;OCCURENCE=1(breast) 0.5 NA 4.6570734 1194 12 133202004 133202004 C T intronic POLE NA NA NA intronic ENSG00000177084 NA NA NA NA NA 12q24.33 NA NA NA NA rs4883543 0.55 0.55 0.537 0.566494 0.4334 0.6746 0.5288 0.6112 0.5583 0.43 0.69 0.52 0.58 0.4917 0.69 . . . . . . . . 1.000 P . . . . . . . . . -0.151 3.261 -3.0 -0.434 -0.368 1.607 -0.151132 NA NA 0.41788 0.58 NA 0.522 NA 4.65702 1194 1 177198998 177198998 T C UTR5 FAM5B NM_021165:c.-15T>C NA NA UTR5 ENSG00000198797 ENST00000361539:c.-15T>C NA NA Score=523;Name=lod=178 NA 1q25.2 NA NA NA NA rs3176441 0.17 0.17 0.149 0.15595 0.2336 NA 0.1744 0.2572 0.0869 0.23 NA 0.2 0.26 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 3.103194 3.103194 NA 0.242674 0.263504 NA 0.116 NA 4.6566594 1194 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 1194 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 1194 21 43792869 43792869 C T UTR3 TMPRSS3 NM_001256317:c.*2G>A,NM_024022:c.*2G>A,NM_032404:c.*2G>A NA NA UTR3 ENSG00000160183 ENST00000291532:c.*2G>A,ENST00000433957:c.*2G>A,ENST00000398405:c.*2G>A,ENST00000380399:c.*2G>A NA NA NA NA 21q22.3 NA NA NA NA rs13047838 0.27 0.27 0.242 0.26897 0.2336 0.5685 0.1599 0.0424 0.3804 0.24 0.55 0.19 0.05 0.2358 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.371746 NA NA 0.207907 0.075579 NA 0.167 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039326.1;CLNDSDB=.;CLNDSDBID=. 4.6560264 1194 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 1194 3 14190268 14190268 G C intronic XPC NA NA NA intronic ENSG00000154767 NA NA NA NA NA 3p25.1 NA Name=Rad21,c-Myc,TBP,CTCF,CTCF_(SC-5916) Name=19 NA rs2470353 0.33 0.33 0.301 0.327875 0.4622 0.0357 0.3948 0.379 0.3742 0.46 0.03 0.43 0.41 0.4112 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.755723 1.755723 NA 0.471111 0.338312 NA 0.355 NA 4.655489 1194 1 156848995 156848995 C T exonic NTRK1 NA synonymous SNV NTRK1:NM_001012331:exon14:c.C1869T:p.A623A,NTRK1:NM_001007792:exon15:c.C1779T:p.A593A,NTRK1:NM_002529:exon15:c.C1887T:p.A629A exonic ENSG00000198400 NA synonymous SNV ENSG00000198400:ENST00000358660:exon14:c.C1878T:p.A626A,ENSG00000198400:ENST00000368196:exon14:c.C1869T:p.A623A,ENSG00000198400:ENST00000392302:exon15:c.C1779T:p.A593A,ENSG00000198400:ENST00000524377:exon15:c.C1887T:p.A629A Score=527;Name=lod=185 NA 1q23.1 NA NA NA NA rs6337 0.4 0.4 0.4 0.334065 0.7127 0.0437 0.5735 0.1384 0.3384 0.73 0.04 0.61 0.15 0.5724 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 1.466642 1.466642 NA 0.726163 0.226158 NA 0.391 NA 4.6554036 1195 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 1195 12 51681903 51681903 T C exonic BIN2 NA nonsynonymous SNV BIN2:NM_016293:exon11:c.A1585G:p.N529D exonic ENSG00000110934 NA nonsynonymous SNV ENSG00000110934:ENST00000452142:exon10:c.A1489G:p.N497D,ENSG00000110934:ENST00000267012:exon11:c.A1585G:p.N529D,ENSG00000110934:ENST00000544402:exon11:c.A1507G:p.N503D NA NA 12q13.13 NA NA NA NA rs7954976 0.84 0.84 0.825 0.834465 0.8976 0.9296 0.8963 0.6029 0.9407 0.89 0.93 0.87 0.63 0.8845 0.93 1 T 0.0 B 0.0 B 0.786 N 1.000 P -0.695 N 0.5 T -0.974 T 0.000 T 0.014 -1.826 0.009 1.8 0.154 0.262 4.953 -1.825907 NA 1 0.896395 0.625511 NA 0.833 NA 4.6548384 1195 17 78896529 78896529 C T exonic RPTOR NA synonymous SNV RPTOR:NM_001163034:exon18:c.C2052T:p.T684T,RPTOR:NM_020761:exon22:c.C2526T:p.T842T exonic ENSG00000141564 NA synonymous SNV ENSG00000141564:ENST00000576366:exon1:c.C6T:p.T2T,ENSG00000141564:ENST00000544334:exon18:c.C2052T:p.T684T,ENSG00000141564:ENST00000306801:exon22:c.C2526T:p.T842T NA NA 17q25.3 NA NA NA NA rs2271603 0.26 0.26 0.236 0.245407 0.3241 0.1964 0.2911 0.1536 0.3067 0.33 0.2 0.32 0.17 0.367 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033634 NA NA 0.322795 0.174072 ID=COSM437758;OCCURENCE=1(breast) 0.225 NA 4.6527716 1195 15 35045312 35045312 T A exonic GJD2 NA synonymous SNV GJD2:NM_020660:exon2:c.A333T:p.T111T exonic ENSG00000159248 NA synonymous SNV ENSG00000159248:ENST00000290374:exon2:c.A333T:p.T111T Score=821;Name=lod=2900 NA 15q14 NA NA NA NA rs651724 0.57 0.57 0.559 0.567692 0.673 0.4067 0.5605 0.5688 0.6288 0.67 0.45 0.58 0.56 0.6506 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 0.330711 NA NA 0.690903 0.590413 NA 0.609 NA 4.6521636 1195 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 1195 2 228476253 228476253 C G exonic C2orf83 NA nonsynonymous SNV C2orf83:NM_020161:exon3:c.G310C:p.E104Q exonic ENSG00000042304 NA nonsynonymous SNV ENSG00000042304:ENST00000264387:exon3:c.G310C:p.E104Q NA NA 2q36.3 NA NA NA NA rs2138402 0.88 0.88 0.853 0.841653 0.9046 0.996 0.9308 0.593 0.8906 0.91 1 0.93 0.66 0.8834 1 1 T 0.0 B 0.0 B . . 1.000 P -0.345 N 0.14 T -0.960 T 0.000 T 0.01 -2.154 0.005 0.457 -0.230 0.246 2.505 -2.154254 NA 1 0.893605 0.673854 NA 0.855 NA 4.6517284 1195 17 18167505 18167505 T C exonic SMCR7 NA synonymous SNV SMCR7:NM_139162:exon4:c.T792C:p.A264A,SMCR7:NM_148886:exon4:c.T825C:p.A275A exonic ENSG00000177427 NA synonymous SNV ENSG00000177427:ENST00000323019:exon4:c.T792C:p.A264A,ENSG00000177427:ENST00000395706:exon4:c.T825C:p.A275A Score=455;Name=lod=94 NA 17p11.2 NA NA NA NA rs2605143 0.69 0.69 0.684 0.676917 0.66 0.5427 0.696 0.9039 0.5123 0.67 0.54 0.68 0.89 0.6812 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 -0.61965 NA NA 0.673776 0.842213 NA 0.659 NA 4.6516906 1195 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 1195 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 1195 11 34909926 34909926 T G exonic APIP NA synonymous SNV APIP:NM_015957:exon5:c.A375C:p.T125T exonic ENSG00000149089 NA synonymous SNV ENSG00000149089:ENST00000532428:exon3:c.A234C:p.T78T,ENSG00000149089:ENST00000395787:exon5:c.A375C:p.T125T,ENSG00000149089:ENST00000278359:exon6:c.A426C:p.T142T Score=547;Name=lod=222 NA 11p13 NA NA NA NA rs1571133 0.61 0.61 0.594 0.579473 0.6839 0.7371 0.5692 0.3533 0.6227 0.7 0.71 0.57 0.4 0.6388 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.058832 NA NA 0.692415 0.414169 NA 0.652 NA 4.6515516 1195 19 46289503 46289503 C T exonic DMWD NA synonymous SNV DMWD:NM_004943:exon3:c.G1251A:p.P417P exonic ENSG00000185800 NA synonymous SNV ENSG00000185800:ENST00000270223:exon3:c.G1251A:p.P417P,ENSG00000185800:ENST00000377735:exon3:c.G1251A:p.P417P NA NA 19q13.32 NA NA NA NA rs8109951 0.29 0.29 0.271 0.290535 0.329 0.2887 0.2291 0.3079 0.273 0.33 0.24 0.27 0.29 0.3247 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.286456 NA NA 0.361528 0.286041 ID=COSM1564351;OCCURENCE=1(large_intestine) 0.312 NA 4.6514386 1195 20 60908969 60908969 T C exonic LAMA5 NA nonsynonymous SNV LAMA5:NM_005560:exon23:c.A2866G:p.T956A exonic ENSG00000130702 NA nonsynonymous SNV ENSG00000130702:ENST00000252999:exon23:c.A2866G:p.T956A NA NA 20q13.33 NA NA NA NA rs13042941 0.77 0.77 0.688 0.721246 0.9155 0.9355 0.7983 0.3109 0.8006 0.9 0.94 0.8 0.34 0.8464 0.94 0.89 T 0.0 B 0.0 B 0.265 N 1.000 P -0.41 N 2.2 T -0.954 T 0.000 T 0.014 -1.104 0.139 -1.97 -0.784 -0.029 14.620 -1.10449 NA 1 0.920023 0.412944 NA 0.464 NA 4.6514104 1195 9 21077716 21077716 G A exonic IFNB1 NA synonymous SNV IFNB1:NM_002176:exon1:c.C153T:p.Y51Y exonic ENSG00000171855 NA synonymous SNV ENSG00000171855:ENST00000380232:exon1:c.C153T:p.Y51Y NA NA 9p21.3 NA NA NA NA rs1051922 0.34 0.34 0.375 0.328275 0.3579 0.3204 0.2608 0.3979 0.2597 0.36 0.36 0.28 0.33 0.33 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157838 NA NA 0.327791 0.374716 NA 0.312 NA 4.6509756 1195 18 29795076 29795076 T C exonic MEP1B NA synonymous SNV MEP1B:NM_005925:exon12:c.T1611C:p.S537S exonic ENSG00000141434 NA synonymous SNV ENSG00000141434:ENST00000269202:exon12:c.T1611C:p.S537S,ENSG00000141434:ENST00000581447:exon12:c.T1611C:p.S537S Score=511;Name=lod=159 NA 18q12.1 NA NA NA NA rs173032 0.71 0.71 0.675 0.69349 0.6859 0.873 0.7522 0.5522 0.6656 0.68 0.87 0.73 0.53 0.6808 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 1.023992 NA NA 0.649413 0.547411 NA 0.551 NA 4.6505536 1195 2 218712306 218712306 C T exonic TNS1 NA synonymous SNV TNS1:NM_022648:exon17:c.G2559A:p.A853A exonic ENSG00000079308 NA synonymous SNV ENSG00000079308:ENST00000419504:exon16:c.G2559A:p.A853A,ENSG00000079308:ENST00000430930:exon16:c.G2559A:p.A853A,ENSG00000079308:ENST00000171887:exon17:c.G2559A:p.A853A NA NA 2q35 NA NA NA NA rs1004814 0.4 0.4 0.422 0.434505 0.3499 0.3442 0.3141 0.6218 0.4468 0.33 0.37 0.32 0.61 0.353 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.401668 NA NA 0.313372 0.56128 NA 0.558 NA 4.6503946 1195 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 1195 10 134622408 134622408 T C exonic TTC40 NA synonymous SNV TTC40:NM_001200049:exon58:c.A7665G:p.R2555R exonic ENSG00000171811 NA synonymous SNV ENSG00000171811:ENST00000263170:exon20:c.A2148G:p.R716R,ENSG00000171811:ENST00000368586:exon58:c.A7665G:p.R2555R NA NA 10q26.3 NA NA NA NA rs2767434 0.74 0.74 0.76 0.742612 0.6779 0.7272 0.5346 0.9644 0.6728 0.68 0.73 0.57 0.95 0.6775 0.95 0.17 T . . . . . . 0.999 P . . . . -1.042 T 0.000 T . 1.252 10.08 -0.323 0.061 0.696 5.596 1.252387 1.252387 0 0.663256 0.928831 NA 0.58 NA 4.6480106 1195 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$AHR_01 NA NA NA rs575123 0.72 0.72 0.71 0.739217 0.6451 0.9514 0.7608 0.5272 0.8885 0.65 0.96 0.72 0.52 0.7113 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.31494 NA NA 0.662313 0.550705 ID=COSM429373,COSM1475612;OCCURENCE=1(breast) 0.652 NA 4.6479536 1195 19 50763889 50763889 C T intronic MYH14 NA NA NA intronic ENSG00000105357 NA NA NA NA NA 19q13.33 Score=784;Name=V$COMP1_01 NA NA NA rs12981413 0.46 0.46 0.415 0.439097 0.4761 0.3264 0.6182 0.4493 0.3763 0.49 0.34 0.59 0.45 0.448 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257624 NA NA 0.428337 0.449672 NA 0.457 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037033.1;CLNDSDB=.;CLNDSDBID=. 4.647563 1195 4 153565641 153565641 A G intronic TMEM154 NA NA NA intronic ENSG00000170006 NA NA NA NA NA 4q31.3 NA Name=PU.1 Name=4 NA rs12650966 0.41 0.41 0.371 0.424521 0.4503 0.4831 0.5317 0.23 0.5245 0.45 0.47 0.54 0.18 0.4569 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.341154 NA NA 0.445581 0.274172 NA 0.449 NA 4.647219 1195 19 54867572 54867572 C T exonic LAIR1 NA synonymous SNV LAIR1:NM_021706:exon8:c.G657A:p.T219T,LAIR1:NM_002287:exon9:c.G708A:p.T236T exonic ENSG00000167613 NA synonymous SNV ENSG00000167613:ENST00000348231:exon8:c.G657A:p.T219T,ENSG00000167613:ENST00000391743:exon8:c.G654A:p.T218T,ENSG00000167613:ENST00000474878:exon8:c.G654A:p.T218T,ENSG00000167613:ENST00000313038:exon9:c.G687A:p.T229T,ENSG00000167613:ENST00000391742:exon9:c.G708A:p.T236T,ENSG00000167613:ENST00000434277:exon9:c.G705A:p.T235T NA NA 19q13.42 NA NA NA NA rs7257187 0.27 0.27 0.255 0.234026 0.3708 0.2808 0.2695 0.1006 0.2004 0.36 0.26 0.32 0.1 0.2967 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514727 NA NA 0.351977 0.131412 NA 0.275 NA 4.6471896 1195 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 1195 6 31506854 31506854 C T ncRNA_intronic ATP6V1G2-DDX39B NA NA NA intronic ENSG00000198563,ENSG00000254870 NA NA NA NA NA 6p21.33 NA Name=USF1_(SC-8983) Name=10 NA rs2523511 0.87 0.87 0.88 0.878794 0.83 0.9028 0.8833 0.8782 0.9018 0.83 0.91 0.88 0.89 0.8562 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 1.139308 NA NA NA NA NA 0.913 NA 4.6471333 1195 11 17542872 17542872 G C intronic USH1C NA NA NA intronic ENSG00000006611 NA NA NA NA NA 11p15.1 NA NA Name=4 NA rs2240488 0.47 0.47 0.431 0.442692 0.4155 0.6399 0.4726 0.2678 0.4826 0.44 0.69 0.48 0.25 0.4652 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 0.015528 NA NA 0.47263 0.300455 NA 0.384 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041248.1;CLNDSDB=.;CLNDSDBID=. 4.64667 1195 2 218712606 218712606 G A exonic TNS1 NA synonymous SNV TNS1:NM_022648:exon17:c.C2259T:p.S753S exonic ENSG00000079308 NA synonymous SNV ENSG00000079308:ENST00000419504:exon16:c.C2259T:p.S753S,ENSG00000079308:ENST00000430930:exon16:c.C2259T:p.S753S,ENSG00000079308:ENST00000171887:exon17:c.C2259T:p.S753S NA NA 2q35 NA NA NA NA rs1364641 0.4 0.4 0.421 0.435104 0.3499 0.3442 0.3156 0.6218 0.4489 0.33 0.37 0.32 0.61 0.3582 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.087351 NA NA 0.312209 0.56128 NA 0.558 NA 4.6463576 1195 19 14015711 14015711 C A UTR5 C19orf57 NM_024323:c.-6G>T NA NA UTR5 ENSG00000132016 ENST00000454313:c.-6G>T,ENST00000346736:c.-6G>T,ENST00000591586:c.-6G>T,ENST00000585755:c.-6G>T NA NA NA NA 19p13.12 Score=808;Name=V$EVI1_03 NA NA NA rs6511898 0.35 0.35 0.353 0.377196 0.2117 0.3075 0.2363 0.6785 0.3119 0.21 0.34 0.23 0.65 0.2617 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708573 NA NA 0.213721 0.621879 NA 0.348 NA 4.6462124 1195 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 1195 1 62579823 62579823 G A exonic INADL NA synonymous SNV INADL:NM_176877:exon35:c.G4560A:p.E1520E exonic ENSG00000132849 NA synonymous SNV ENSG00000132849:ENST00000545929:exon7:c.G495A:p.E165E,ENSG00000132849:ENST00000543708:exon10:c.G1002A:p.E334E,ENSG00000132849:ENST00000484937:exon23:c.G2937A:p.E979E,ENSG00000132849:ENST00000371158:exon35:c.G4560A:p.E1520E,ENSG00000132849:ENST00000316485:exon36:c.G4650A:p.E1550E Score=343;Name=lod=33 NA 1p31.3 NA NA NA NA rs1475563 0.65 0.65 0.63 0.609026 0.66 0.754 0.7161 0.4206 0.5859 0.66 0.77 0.72 0.42 0.6621 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 1.084918 NA NA 0.698488 0.467998 NA 0.551 NA 4.6460786 1195 11 130066335 130066335 C T exonic ST14 NA synonymous SNV ST14:NM_021978:exon10:c.C1215T:p.N405N exonic ENSG00000149418 NA synonymous SNV ENSG00000149418:ENST00000278742:exon10:c.C1215T:p.N405N Score=493;Name=lod=134 NA 11q24.3 NA NA NA NA rs476106 0.62 0.62 0.587 0.638978 0.6869 0.7103 0.7752 0.3684 0.7853 0.68 0.7 0.74 0.35 0.6905 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.825458 NA NA 0.643273 0.42299 NA 0.246 NA 4.6459936 1195 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 1195 7 6048556 6048556 G A intronic PMS2 NA NA NA intronic ENSG00000122512 NA NA NA NA NA 7p22.1 NA Name=CTCFL_(SC-98982),ZBTB7A_(SC-34508),YY1,CEBPB,AP-2alpha,TBP,CCNT2,Pol2(b),Mxi1_(bHLH),NRSF,Sin3Ak-20,c-Myc,Rad21,Oct-2,YY1_(C-20),Max,HEY1,STAT1,Pol2-4H8,CTCF_(C-20),TAF1,E2F6_(H-50),CTCF,E2F6,POU2F2,TAF7_(SQ-8),Ini1,Pol2 NA NA rs3735295 0.21 0.21 0.199 0.227436 0.1789 0.1597 0.1513 0.3442 0.2434 0.19 0.16 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 1.506277 1.506277 NA 0.176008 0.295224 NA 0.283 NA 4.645092 1196 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=GABP,SP2_(SC-643),Pol2-4H8,NFKB,TAF1,IRF3,RFX5_(N-494),HMGN3,GATA-1,ELF1_(SC-631),HEY1,KAP1,HA-E2F1,CHD2_(N-1250),Pol2(phosphoS2),USF-1,Pol2,CTCF,GTF2B,E2F6_(H-50),POU2F2,E2F6,TAF7_(SQ-8),TCF12,Ini1,PU.1,NF-YB,BRCA1_(C-1863),TR4,TBP,CCNT2,Pol2(b),ELK4,PAX5-N19,GTF2F1_(RAP-74),ZNF263,SP1,Oct-2,c-Myc,YY1_(C-20),NRSF,PAX5-C20,E2F4,Sin3Ak-20 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 1196 15 74467856 74467856 G A exonic ISLR NA synonymous SNV ISLR:NM_005545:exon2:c.G657A:p.T219T,ISLR:NM_201526:exon2:c.G657A:p.T219T exonic ENSG00000129009 NA synonymous SNV ENSG00000129009:ENST00000249842:exon2:c.G657A:p.T219T,ENSG00000129009:ENST00000395118:exon2:c.G657A:p.T219T NA NA 15q24.1 NA Name=Pol2 NA NA rs1052622 0.59 0.59 0.605 0.585663 0.6988 0.5615 0.7104 0.407 0.6472 0.7 0.55 0.7 0.41 0.6416 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 -1.716281 NA NA 0.681871 0.468153 ID=COSM1162175;OCCURENCE=1(pancreas) 0.696 NA 4.6443956 1196 19 10106936 10106936 G C exonic COL5A3 NA synonymous SNV COL5A3:NM_015719:exon14:c.C1425G:p.L475L exonic ENSG00000080573 NA synonymous SNV ENSG00000080573:ENST00000264828:exon14:c.C1425G:p.L475L NA NA 19p13.2 NA NA NA NA rs1559186 0.4 0.4 0.403 0.394968 0.3221 0.3403 0.3689 0.6256 0.2331 0.31 0.35 0.38 0.62 0.3626 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.879623 NA NA 0.337605 0.578409 NA 0.391 NA 4.6443616 1196 5 39719446 39719446 A G intergenic DAB2,PTGER4 dist=294111;dist=960586 NA NA ncRNA_exonic ENSG00000250492 NA NA NA Score=349;Name=lod=35 NA 5p13.1 NA NA NA NA rs10512714 0.26 0.26 0.218 0.250998 0.3559 0.1716 0.2161 0.1649 0.3661 0.35 0.19 0.27 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 1.249801 1.249801 NA NA NA NA 0.261 NA 4.6441 1196 10 71392557 71392557 C T exonic C10orf35 NA synonymous SNV C10orf35:NM_145306:exon4:c.C108T:p.N36N exonic ENSG00000171224 NA synonymous SNV ENSG00000171224:ENST00000373279:exon4:c.C108T:p.N36N,ENSG00000171224:ENST00000421716:exon4:c.C234T:p.N78N Score=369;Name=lod=42 NA 10q22.1 NA NA NA NA rs12020 0.72 0.72 0.709 0.708466 0.665 0.8909 0.7392 0.5976 0.6933 0.68 0.89 0.72 0.59 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 0.355025 NA NA 0.66624 0.619437 NA 0.696 NA 4.6436266 1196 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 1196 22 24121378 24121378 C T exonic MMP11 NA nonsynonymous SNV MMP11:NM_005940:exon2:c.C113T:p.A38V exonic ENSG00000099953 NA nonsynonymous SNV ENSG00000099953:ENST00000215743:exon2:c.C113T:p.A38V,ENSG00000099953:ENST00000428253:exon2:c.C113T:p.A38V,ENSG00000099953:ENST00000437086:exon2:c.C113T:p.A38V NA NA 22q11.23 NA NA NA NA rs738792 0.77 0.77 0.734 0.708267 0.9294 0.6984 0.8487 0.4939 0.681 0.94 0.72 0.83 0.51 0.8455 0.94 0.32 T 0.099 B 0.025 B 0.000 N 1.000 P 0.205 N 2.59 T -0.974 T 0.000 T 0.06 1.626 11.39 0.812 0.138 0.244 8.361 1.626057 1.626057 0.32 0.915619 0.58021 NA 0.775 NA 4.6428144 1196 3 108373022 108373022 G A exonic DZIP3 NA synonymous SNV DZIP3:NM_014648:exon19:c.G2064A:p.L688L exonic ENSG00000198919 NA synonymous SNV ENSG00000198919:ENST00000361582:exon19:c.G2064A:p.L688L,ENSG00000198919:ENST00000463306:exon19:c.G2064A:p.L688L NA NA 3q13.13 NA NA NA NA rs2969901 0.22 0.22 0.205 0.226637 0.3419 0.0159 0.3084 0.1815 0.3282 0.34 0.02 0.3 0.2 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 -0.073618 NA NA 0.371977 0.199728 NA 0.268 NA 4.6427896 1196 6 159205632 159205632 C T intronic EZR NA NA NA intronic ENSG00000092820 NA NA NA NA NA 6q25.3 NA Name=GR,Pol2(b) 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 1196 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 1196 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 1196 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 1196 3 46014545 46014545 T G intronic FYCO1 NA NA NA intronic ENSG00000163820 NA NA NA NA NA 3p21.31 NA Name=MafK_(ab50322) NA NA rs41289622 0.06 0.06 0.054 0.105431 0.1223 0.004 0.0591 0.0053 0.3609 0.14 NA 0.05 0.01 0.1274 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.757905 NA NA 0.110116 0.022469 NA 0.051 NA 4.640184 1196 17 59763465 59763465 T C exonic BRIP1 NA synonymous SNV BRIP1:NM_032043:exon19:c.A2637G:p.E879E exonic ENSG00000136492 NA synonymous SNV ENSG00000136492:ENST00000577598:exon18:c.A2637G:p.E879E,ENSG00000136492:ENST00000259008:exon19:c.A2637G:p.E879E Score=545;Name=lod=218 NA 17q23.2 NA NA NA NA rs4986765 0.81 0.81 0.797 0.815096 0.6531 0.9127 0.8285 0.941 0.7014 0.65 0.9 0.82 0.95 0.7188 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 0.912795 NA NA 0.655465 0.888107 ID=COSM437064,COSM1479821;OCCURENCE=1(breast) 0.804 NA 4.6393016 1196 5 96512865 96512865 T A exonic RIOK2 NA synonymous SNV RIOK2:NM_001159749:exon4:c.A453T:p.L151L,RIOK2:NM_018343:exon4:c.A453T:p.L151L exonic ENSG00000058729 NA synonymous SNV ENSG00000058729:ENST00000283109:exon4:c.A453T:p.L151L,ENSG00000058729:ENST00000508447:exon4:c.A453T:p.L151L Score=679;Name=lod=763 NA 5q15 NA NA NA NA rs2548319 0.69 0.69 0.675 0.691494 0.67 0.6429 0.6412 0.7806 0.6789 0.68 0.63 0.64 0.82 0.6814 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 0.794473 NA NA 0.676047 0.783477 NA 0.71 NA 4.6392196 1196 5 96512871 96512871 T A exonic RIOK2 NA synonymous SNV RIOK2:NM_001159749:exon4:c.A447T:p.S149S,RIOK2:NM_018343:exon4:c.A447T:p.S149S exonic ENSG00000058729 NA synonymous SNV ENSG00000058729:ENST00000283109:exon4:c.A447T:p.S149S,ENSG00000058729:ENST00000508447:exon4:c.A447T:p.S149S Score=679;Name=lod=763 NA 5q15 NA NA NA NA rs2544772 0.69 0.69 0.68 0.691494 0.67 0.6429 0.6412 0.7806 0.6789 0.68 0.63 0.64 0.82 0.6814 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 0.512379 NA NA 0.676047 0.783477 NA 0.71 NA 4.6392196 1196 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 1196 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 1196 2 25655772 25655772 T C exonic DTNB NA synonymous SNV DTNB:NM_001256304:exon13:c.A1440G:p.A480A,DTNB:NM_001256308:exon13:c.A1269G:p.A423A,DTNB:NM_033148:exon13:c.A1350G:p.A450A,DTNB:NM_183361:exon13:c.A1350G:p.A450A,DTNB:NM_001256303:exon14:c.A1440G:p.A480A,DTNB:NM_021907:exon14:c.A1440G:p.A480A,DTNB:NM_033147:exon14:c.A1440G:p.A480A,DTNB:NM_183360:exon14:c.A1440G:p.A480A exonic ENSG00000138101 NA synonymous SNV ENSG00000138101:ENST00000545439:exon12:c.A828G:p.A276A,ENSG00000138101:ENST00000405222:exon13:c.A1350G:p.A450A,ENSG00000138101:ENST00000407038:exon13:c.A1350G:p.A450A,ENSG00000138101:ENST00000407186:exon13:c.A1350G:p.A450A,ENSG00000138101:ENST00000496972:exon13:c.A1269G:p.A423A,ENSG00000138101:ENST00000288642:exon14:c.A1440G:p.A480A,ENSG00000138101:ENST00000404103:exon14:c.A1440G:p.A480A,ENSG00000138101:ENST00000406818:exon14:c.A1440G:p.A480A,ENSG00000138101:ENST00000407661:exon14:c.A1440G:p.A480A NA NA 2p23.3 NA NA NA NA rs7583475 0.23 0.23 0.223 0.239417 0.3489 0.005 0.2104 0.3298 0.2669 0.36 NA 0.23 0.3 0.3467 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.372157 1.372157 NA 0.332711 0.323733 NA 0.196 NA 4.6383556 1196 3 58080505 58080505 G T intronic FLNB NA NA NA intronic ENSG00000136068 NA NA NA NA NA 3p14.3 NA Name=Pol2(b) NA NA rs7644723 0.58 0.58 0.571 0.609824 0.3618 0.9306 0.5749 0.5363 0.6585 0.36 0.92 0.53 0.53 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 0.571368 NA NA NA NA NA 0.478 NA 4.6382 1196 19 45490570 45490570 A G exonic CLPTM1 NA synonymous SNV CLPTM1:NM_001294:exon8:c.A927G:p.P309P exonic ENSG00000104853 NA synonymous SNV ENSG00000104853:ENST00000337392:exon8:c.A927G:p.P309P,ENSG00000104853:ENST00000541297:exon8:c.A885G:p.P295P,ENSG00000104853:ENST00000546079:exon8:c.A621G:p.P207P NA NA 19q13.32 NA NA NA NA rs3786505 0.45 0.45 0.431 0.426717 0.341 0.5288 0.4222 0.4788 0.3425 0.35 0.53 0.44 0.51 0.3664 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.840138 NA NA 0.321395 0.483659 NA 0.435 NA 4.6378716 1196 1 86838158 86838158 C T exonic ODF2L NA synonymous SNV ODF2L:NM_001007022:exon9:c.G876A:p.V292V,ODF2L:NM_001184765:exon9:c.G876A:p.V292V,ODF2L:NM_001184766:exon9:c.G876A:p.V292V,ODF2L:NM_020729:exon9:c.G876A:p.V292V exonic ENSG00000122417 NA synonymous SNV ENSG00000122417:ENST00000460698:exon5:c.G504A:p.V168V,ENSG00000122417:ENST00000479890:exon5:c.G366A:p.V122V,ENSG00000122417:ENST00000394731:exon8:c.G483A:p.V161V,ENSG00000122417:ENST00000294678:exon9:c.G876A:p.V292V,ENSG00000122417:ENST00000317336:exon9:c.G876A:p.V292V,ENSG00000122417:ENST00000359242:exon9:c.G876A:p.V292V,ENSG00000122417:ENST00000370566:exon9:c.G876A:p.V292V,ENSG00000122417:ENST00000370567:exon9:c.G876A:p.V292V Score=597;Name=lod=356 NA 1p22.3 NA NA NA NA rs421105 0.74 0.74 0.753 0.754593 0.6551 0.8284 0.67 0.7821 0.8037 0.65 0.86 0.67 0.8 0.7161 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 0.96004 NA NA 0.657956 0.773059 NA 0.688 NA 4.6375106 1196 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 1196 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 1196 8 22880162 22880162 G C UTR3 TNFRSF10B NM_003842:c.*22C>G,NM_147187:c.*22C>G NA NA UTR3 ENSG00000120889 ENST00000276431:c.*22C>G,ENST00000347739:c.*22C>G,ENST00000542226:c.*22C>G,ENST00000523504:c.*879C>G NA NA NA NA 8p21.3 NA Name=USF2,Pol2 Name=21 NA rs1047275 0.47 0.47 0.468 0.417133 0.5676 0.4752 0.5043 0.2398 0.3804 0.59 0.5 0.46 0.25 0.5331 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059101 NA NA 0.596047 0.305719 ID=COSN168287;OCCURENCE=1(large_intestine) 0.391 NA 4.6365864 1196 21 38501279 38501279 G A intronic TTC3 NA NA NA intronic ENSG00000182670 NA NA NA Score=420;Name=lod=68 NA 21q22.13 NA NA NA NA rs2835617 0.1 0.1 0.075 0.072484 0.1173 0.0397 0.1888 0.0416 0.0194 0.12 0.04 0.19 0.04 0.1168 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 0.44389 NA NA 0.129949 0.055631 NA 0.101 NA 4.635951 1196 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 1196 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 1196 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 1196 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 1197 16 76532583 76532583 A G exonic CNTNAP4 NA nonsynonymous SNV CNTNAP4:NM_138994:exon14:c.A2138G:p.Q713R exonic ENSG00000152910 NA nonsynonymous SNV ENSG00000152910:ENST00000476707:exon14:c.A2366G:p.Q789R,ENSG00000152910:ENST00000478060:exon14:c.A2138G:p.Q713R,ENSG00000152910:ENST00000377504:exon15:c.A2210G:p.Q737R,ENSG00000152910:ENST00000307431:exon16:c.A2354G:p.Q785R NA NA 16q23.1 NA NA NA NA rs12933808 0.85 0.85 0.835 0.839457 0.9066 0.9712 0.8818 0.6369 0.8783 0.89 0.97 0.87 0.64 0.882 0.97 0.65 T 0.0 B 0.001 B 0.167 N 1.000 P . . -1.24 T -0.994 T 0.000 T 0.816 0.057 4.313 -0.494 -0.350 0.279 6.041 0.057421 NA 0.42 0.909873 0.697452 NA 0.884 NA 4.6348604 1197 17 30696296 30696296 G A intronic ZNF207 NA NA NA intronic ENSG00000010244 NA NA NA NA NA 17q11.2 NA NA Name=2 NA rs72813018 0.08 0.08 0.086 0.0798722 0.1312 0.0486 0.0749 0.031 0.1288 0.14 0.04 0.09 0.06 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 -2.536897 NA NA 0.129651 0.036087 NA 0.138 NA 4.634849 1197 7 143657801 143657801 A G exonic OR2F1 NA synonymous SNV OR2F1:NM_012369:exon1:c.A738G:p.T246T exonic ENSG00000213215 NA synonymous SNV ENSG00000213215:ENST00000392899:exon1:c.A738G:p.T246T NA NA 7q35 NA NA NA NA rs2072166 0.48 0.48 0.465 0.457468 0.3231 0.5744 0.415 0.6687 0.2198 0.31 0.56 0.46 0.66 0.3789 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 -0.244796 NA NA 0.330116 0.606446 NA 0.413 NA 4.6345506 1197 17 76487658 76487658 G A ncRNA_intronic LOC100996295 NA NA NA ncRNA_intronic ENSG00000267432 NA NA NA NA NA 17q25.3 NA NA NA NA rs76764685 0.0041 0.0041 0.005 0.00419329 0.0109 NA 0.0029 0.0008 0.0072 0.01 NA 0.0028 0.002 0.0103 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 0.440586 NA NA 0.011209 0.001233 NA NA NA 4.6342576 1197 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 1197 7 150171710 150171710 T C exonic GIMAP8 NA synonymous SNV GIMAP8:NM_175571:exon4:c.T1293C:p.C431C exonic ENSG00000171115 NA synonymous SNV ENSG00000171115:ENST00000307271:exon4:c.T1293C:p.C431C NA NA 7q36.1 NA NA NA NA rs60114833 0.31 0.31 0.291 0.259784 0.3698 0.4187 0.2233 0.1097 0.2117 0.35 0.42 0.28 0.13 0.3117 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.260647 NA NA 0.351163 0.158193 NA 0.21 NA 4.6340036 1197 6 12292772 12292772 G T intronic EDN1 NA NA NA intronic ENSG00000078401 NA NA NA NA NA 6p24.1 NA Name=Rad21,SMC3_(ab9263),Pol2,CTCF,CTCF_(SC-5916),CTCF_(C-20) 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 1197 12 31135418 31135418 C A intronic TSPAN11 NA NA NA intronic ENSG00000110900 NA NA NA NA NA 12p11.21 NA NA Name=6 NA rs2075332 0.16 0.16 0.179 0.157748 0.1292 0.2093 0.0677 0.2262 0.1053 0.14 0.23 0.07 0.2 0.1247 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050713 NA NA 0.11314 0.213572 NA 0.159 NA 4.63296 1197 10 122645376 122645376 A T exonic WDR11 NA synonymous SNV WDR11:NM_018117:exon15:c.A1899T:p.A633A exonic ENSG00000120008 NA synonymous SNV ENSG00000120008:ENST00000263461:exon15:c.A1899T:p.A633A NA NA 10q26.12 NA NA NA NA rs7899928 0.37 0.37 0.354 0.395567 0.334 0.4177 0.4366 0.4297 0.3609 0.34 0.4 0.41 0.35 0.3637 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.701036 1.701036 NA 0.336512 0.418974 ID=COSM147067;OCCURENCE=1(stomach) 0.355 NA 4.6324546 1197 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 1197 5 102891695 102891695 A G exonic NUDT12 NA synonymous SNV NUDT12:NM_031438:exon4:c.T901C:p.L301L exonic ENSG00000112874 NA synonymous SNV ENSG00000112874:ENST00000230792:exon4:c.T901C:p.L301L,ENSG00000112874:ENST00000507423:exon4:c.T847C:p.L283L Score=480;Name=lod=119 NA 5q21.2 NA NA NA NA rs10045774 0.59 0.59 0.583 0.59385 0.6859 0.496 0.5331 0.556 0.6943 0.68 0.48 0.58 0.57 0.6546 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 -0.457204 NA NA 0.69458 0.532925 NA 0.551 NA 4.6315866 1197 11 26568966 26568966 A G exonic ANO3 NA synonymous SNV ANO3:NM_031418:exon12:c.A1158G:p.L386L exonic ENSG00000134343 NA synonymous SNV ENSG00000134343:ENST00000531568:exon9:c.A720G:p.L240L,ENSG00000134343:ENST00000256737:exon12:c.A1158G:p.L386L,ENSG00000134343:ENST00000525139:exon12:c.A1110G:p.L370L,ENSG00000134343:ENST00000537978:exon13:c.A1110G:p.L370L Score=522;Name=lod=177 NA 11p14.2 NA NA NA NA rs2663168 0.69 0.69 0.684 0.67512 0.666 0.8135 0.7061 0.5522 0.6861 0.67 0.81 0.7 0.58 0.6862 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 0.312817 NA NA 0.683488 0.5867 NA 0.609 NA 4.6309786 1197 20 10389480 10389480 T A intronic MKKS NA NA NA intronic ENSG00000125863 NA NA NA Score=317;Name=lod=26 NA 20p12.2 NA NA NA NA rs764266 0.2 0.2 0.211 0.239417 0.0895 0.2569 0.1268 0.379 0.2669 0.09 0.24 0.14 0.39 0.1672 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.638987 NA NA 0.112558 0.309859 ID=COSN166484;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.174 NA 4.630742 1197 19 10668452 10668452 A G exonic KRI1 NA synonymous SNV KRI1:NM_023008:exon15:c.T1497C:p.F499F exonic ENSG00000129347 NA synonymous SNV ENSG00000129347:ENST00000539027:exon6:c.T444C:p.F148F,ENSG00000129347:ENST00000361821:exon14:c.T1485C:p.F495F,ENSG00000129347:ENST00000312962:exon15:c.T1497C:p.F499F Score=336;Name=lod=31 NA 19p13.2 NA NA NA NA rs3745255 0.71 0.71 0.645 0.69389 0.67 0.9395 0.7968 0.4418 0.7331 0.65 0.96 0.8 0.44 0.6943 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 -0.531739 NA NA 0.671824 0.451408 NA 0.732 NA 4.6305426 1197 11 8947179 8947179 G A exonic C11orf16 NA synonymous SNV C11orf16:NM_020643:exon5:c.C1035T:p.D345D exonic ENSG00000176029 NA synonymous SNV ENSG00000176029:ENST00000326053:exon5:c.C1035T:p.D345D,ENSG00000176029:ENST00000525780:exon5:c.C1035T:p.D345D NA NA 11p15.4 NA NA NA NA rs2568077 0.25 0.25 0.234 0.269369 0.3549 0.2232 0.2507 0.1067 0.4622 0.36 0.17 0.31 0.14 0.3265 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.283464 NA NA 0.354981 0.133121 ID=COSM147140;OCCURENCE=1(stomach) 0.261 NA 4.6302856 1197 9 5969249 5969249 A G exonic KIAA2026 NA synonymous SNV KIAA2026:NM_001017969:exon3:c.T982C:p.L328L exonic ENSG00000183354 NA synonymous SNV ENSG00000183354:ENST00000513355:exon2:c.T781C:p.L261L,ENSG00000183354:ENST00000381461:exon3:c.T982C:p.L328L,ENSG00000183354:ENST00000399933:exon3:c.T982C:p.L328L Score=743;Name=lod=1401 NA 9p24.1 NA NA NA NA rs10739080 0.57 0.57 0.549 0.509585 0.6869 0.5427 0.5605 0.3238 0.5082 0.7 0.57 0.6 0.36 0.6314 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067429 NA NA 0.718621 0.390458 ID=COSN168464;OCCURENCE=1(large_intestine) 0.543 NA 4.6297456 1197 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 1197 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 1197 7 99971313 99971313 T C exonic PILRA NA synonymous SNV PILRA:NM_013439:exon1:c.T34C:p.L12L,PILRA:NM_178272:exon1:c.T34C:p.L12L,PILRA:NM_178273:exon1:c.T34C:p.L12L exonic ENSG00000085514 NA synonymous SNV ENSG00000085514:ENST00000198536:exon1:c.T34C:p.L12L,ENSG00000085514:ENST00000350573:exon1:c.T34C:p.L12L,ENSG00000085514:ENST00000394000:exon1:c.T34C:p.L12L,ENSG00000085514:ENST00000453419:exon1:c.T34C:p.L12L,ENSG00000085514:ENST00000432297:exon2:c.T34C:p.L12L Score=265;Name=lod=16 NA 7q22.1 NA NA NA NA rs2405442 0.64 0.64 0.659 0.660942 0.6789 0.3869 0.4971 0.9092 0.7055 0.67 0.43 0.56 0.9 0.6667 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 0.500975 NA NA 0.691977 0.858829 NA 0.616 NA 4.6290896 1197 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 1197 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 1197 8 142231636 142231636 T C intronic SLC45A4 NA NA NA intronic ENSG00000022567 NA NA NA NA NA 8q24.3 NA NA Name=25 NA rs7004350 0.17 0.17 0.164 0.169728 0.1262 0.247 0.1037 0.1785 0.1697 0.11 0.27 0.14 0.18 0.1332 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304871 NA NA 0.11186 0.162279 NA 0.109 NA 4.62874 1197 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 1197 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 1197 15 86814866 86814866 A G exonic AGBL1 NA synonymous SNV AGBL1:NM_152336:exon14:c.A1866G:p.L622L exonic ENSG00000166748 NA synonymous SNV ENSG00000166748:ENST00000389298:exon7:c.A1059G:p.L353L,ENSG00000166748:ENST00000421325:exon13:c.A1866G:p.L622L,ENSG00000166748:ENST00000441037:exon14:c.A1866G:p.L622L Score=397;Name=lod=55 NA 15q25.3 NA NA NA NA rs11858435 0.64 0.64 0.652 0.682109 0.675 0.3849 0.6974 0.8616 0.7423 0.67 0.41 0.69 0.84 0.6787 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 1.233115 1.233115 NA 0.684495 0.836026 NA 0.725 NA 4.6284716 1197 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 1197 4 71384488 71384488 C T UTR5 AMTN NM_212557:c.-7C>T NA NA UTR5 ENSG00000187689 ENST00000339336:c.-7C>T,ENST00000504451:c.-7C>T NA NA Score=425;Name=lod=71 NA 4q13.3 Score=846;Name=V$IRF7_01 Name=STAT3 NA NA rs28674149 0.88 0.88 0.88 0.897364 0.9165 0.7956 0.8775 0.9811 0.8834 0.91 0.78 0.87 0.98 0.8888 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 -0.142297 NA NA 0.900465 0.973445 NA 0.899 NA 4.6275684 1197 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=NRSF,BATF,PAX5-N19,PU.1,Pbx3,IRF4_(M-17),Pol2-4H8 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 1197 9 136654366 136654366 C T intronic VAV2 NA NA NA intronic ENSG00000160293 NA NA NA NA NA 9q34.2 NA NA Name=32 NA rs45607334 0.08 0.08 0.057 0.0854633 0.1133 0.0298 0.1455 0.0424 0.1299 0.12 0.01 0.15 0.05 0.1236 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419362 NA NA 0.136512 0.04857 ID=COSN168697;OCCURENCE=1(large_intestine) 0.101 NA 4.626588 1197 19 50306198 50306198 G T intronic AP2A1 NA NA NA intronic ENSG00000196961 NA NA NA NA NA 19q13.33 NA NA Name=3 NA rs28736735 0.13 0.13 0.119 0.129593 0.1163 0.1379 0.085 0.1778 0.1012 0.12 0.13 0.09 0.16 0.1312 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.392718 NA NA 0.125981 0.146873 NA 0.094 NA 4.626519 1197 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 1197 4 1657281 1657281 G A exonic FAM53A NA synonymous SNV FAM53A:NM_001013622:exon4:c.C306T:p.T102T,FAM53A:NM_001174070:exon4:c.C306T:p.T102T exonic ENSG00000174137 NA synonymous SNV ENSG00000174137:ENST00000461064:exon3:c.C306T:p.T102T,ENSG00000174137:ENST00000308132:exon4:c.C306T:p.T102T,ENSG00000174137:ENST00000463238:exon4:c.C306T:p.T102T,ENSG00000174137:ENST00000472884:exon4:c.C306T:p.T102T,ENSG00000174137:ENST00000489363:exon4:c.C306T:p.T102T NA NA 4p16.3 NA NA NA NA rs79735962 0.21 0.21 0.226 0.224241 0.3678 0.0595 0.2291 0.0991 0.4121 0.37 0.05 0.28 0.11 0.3615 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.454381 NA NA 0.311356 0.121003 NA 0.094 NA 4.6260106 1197 9 17135434 17135434 G C intronic CNTLN NA NA NA intronic ENSG00000044459 NA NA NA NA NA 9p22.2 NA Name=Pol2-4H8,Pol2 Name=41 NA rs12003380 0.53 0.53 0.508 0.498003 0.4304 0.5823 0.3963 0.5628 0.4652 0.44 0.65 0.44 0.59 0.5016 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.323243 2.323243 NA 0.442908 0.53532 NA 0.391 NA 4.625092 1198 3 97868970 97868970 T A exonic OR5H14 NA synonymous SNV OR5H14:NM_001005514:exon1:c.T741A:p.S247S exonic ENSG00000236032 NA synonymous SNV ENSG00000236032:ENST00000437310:exon1:c.T741A:p.S247S NA NA 3q11.2 NA NA NA NA rs12639519 0.56 0.56 0.49 0.586462 0.5278 0.5198 0.5648 0.7103 0.5634 0.51 0.57 0.52 0.66 0.5143 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 -0.533479 NA NA NA NA NA 0.348 NA 4.6245666 1198 5 76926651 76926651 A C intronic OTP NA NA NA intronic ENSG00000171540 NA NA NA NA NA 5q14.1 NA Name=HA-E2F1,CTCF Name=63 NA rs62362480 0.45 0.45 0.442 0.447883 0.4702 0.3254 0.4424 0.5446 0.4243 0.47 0.33 0.45 0.56 0.4627 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.151407 2.151407 NA 0.442589 0.446278 NA 0.362 NA 4.624511 1198 6 34831866 34831866 G A exonic UHRF1BP1 NA synonymous SNV UHRF1BP1:NM_017754:exon15:c.G3303A:p.T1101T exonic ENSG00000065060 NA synonymous SNV ENSG00000065060:ENST00000192788:exon15:c.G3303A:p.T1101T,ENSG00000065060:ENST00000452449:exon15:c.G3303A:p.T1101T NA NA 6p21.31 NA NA NA NA rs3734264 0.46 0.46 0.464 0.463458 0.338 0.4573 0.3112 0.7723 0.2894 0.33 0.46 0.32 0.76 0.3614 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 -0.29435 NA NA 0.342785 0.652743 NA 0.413 NA 4.6244816 1198 18 2885118 2885118 C T exonic EMILIN2 NA synonymous SNV EMILIN2:NM_032048:exon3:c.C414T:p.N138N exonic ENSG00000132205 NA synonymous SNV ENSG00000132205:ENST00000254528:exon3:c.C414T:p.N138N NA NA 18p11.32 NA NA NA NA rs592120 0.2 0.2 0.162 0.170527 0.3668 0.0119 0.2406 0.1014 0.1759 0.39 0.01 0.23 0.09 0.3074 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.418957 NA NA 0.368023 0.149569 NA 0.188 NA 4.6244436 1198 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 1198 2 234601965 234601965 A G exonic UGT1A6 NA synonymous SNV UGT1A6:NM_001072:exon1:c.A315G:p.L105L exonic ENSG00000167165 NA synonymous SNV ENSG00000167165:ENST00000305139:exon1:c.A315G:p.L105L,ENSG00000167165:ENST00000441351:exon2:c.A315G:p.L105L NA NA 2q37.1 NA NA NA NA rs1105880 0.32 0.32 0.33 0.342652 0.333 0.2242 0.304 0.3684 0.4673 0.33 0.24 0.33 0.38 0.3519 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000441 NA NA 0.357907 0.365638 NA 0.471 NA 4.6238596 1198 16 86565826 86565826 C G exonic MTHFSD NA nonsynonymous SNV MTHFSD:NM_001159377:exon8:c.G943C:p.G315R,MTHFSD:NM_001159378:exon8:c.G943C:p.G315R,MTHFSD:NM_001159379:exon8:c.G940C:p.G314R,MTHFSD:NM_001159380:exon8:c.G883C:p.G295R,MTHFSD:NM_022764:exon8:c.G940C:p.G314R exonic ENSG00000103248 NA nonsynonymous SNV ENSG00000103248:ENST00000322911:exon8:c.G940C:p.G314R,ENSG00000103248:ENST00000360900:exon8:c.G943C:p.G315R,ENSG00000103248:ENST00000381214:exon8:c.G943C:p.G315R,ENSG00000103248:ENST00000543303:exon8:c.G940C:p.G314R,ENSG00000103248:ENST00000546093:exon9:c.G454C:p.G152R NA NA 16q24.1 NA NA NA NA rs3751803 0.9 0.9 0.897 0.892772 0.9056 0.8552 0.9092 0.9153 0.8763 0.9 0.87 0.91 0.92 0.9021 0.92 0.75 T 0.001 B 0.004 B 0.578 N 1.000 P -1.15 N 2.46 T -1.033 T 0.000 T 0.076 -1.492 0.017 -0.307 -0.576 0.399 6.549 -1.491778 NA 0.73 0.902004 0.906971 NA 0.884 NA 4.6236294 1198 11 6632857 6632857 A T intronic TAF10 NA NA NA intronic ENSG00000166337 NA NA NA NA NA 11p15.4 NA Name=Pol2,ZNF263 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 1198 21 38439686 38439686 A G intronic PIGP NA NA NA intronic ENSG00000185808 NA NA NA NA NA 21q22.13 Score=845;Name=V$GATA1_02 NA NA NA rs11702061 0.14 0.14 0.129 0.120008 0.1203 0.0456 0.1671 0.2262 0.0194 0.12 0.04 0.19 0.24 0.1244 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.221301 NA NA 0.131744 0.196323 NA 0.188 NA 4.623556 1198 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 1198 15 100801698 100801698 G A exonic ADAMTS17 NA synonymous SNV ADAMTS17:NM_139057:exon6:c.C1017T:p.A339A exonic ENSG00000140470 NA synonymous SNV ENSG00000140470:ENST00000268070:exon6:c.C1017T:p.A339A Score=512;Name=lod=160 NA 15q26.3 NA NA NA NA rs4965613 0.66 0.66 0.656 0.692093 0.6948 0.622 0.7061 0.7027 0.7372 0.69 0.6 0.65 0.68 0.6826 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.410488 1.410488 NA 0.66593 0.689741 NA 0.739 NA 4.6233366 1198 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=Pol2,E2F6,Ini1,Pol2-4H8,TAF1 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 1198 18 28586964 28586964 A G exonic DSC3 NA synonymous SNV DSC3:NM_001941:exon12:c.T1797C:p.P599P,DSC3:NM_024423:exon12:c.T1797C:p.P599P exonic ENSG00000134762 NA synonymous SNV ENSG00000134762:ENST00000360428:exon12:c.T1797C:p.P599P,ENSG00000134762:ENST00000434452:exon12:c.T1797C:p.P599P NA NA 18q12.1 NA NA NA NA rs1313586 0.54 0.54 0.545 0.594249 0.3121 0.7917 0.3833 0.8268 0.5164 0.29 0.76 0.36 0.79 0.4109 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 -1.171932 NA NA 0.321744 0.75783 ID=COSM148415;OCCURENCE=1(stomach) 0.58 NA 4.6219226 1198 10 13494594 13494594 T C exonic BEND7 NA synonymous SNV BEND7:NM_001100912:exon6:c.A1011G:p.V337V,BEND7:NM_152751:exon7:c.A972G:p.V324V exonic ENSG00000165626 NA synonymous SNV ENSG00000165626:ENST00000440282:exon2:c.A240G:p.V80V,ENSG00000165626:ENST00000378605:exon6:c.A1011G:p.V337V,ENSG00000165626:ENST00000341083:exon7:c.A972G:p.V324V,ENSG00000165626:ENST00000396898:exon7:c.A1167G:p.V389V,ENSG00000165626:ENST00000396900:exon7:c.A1128G:p.V376V NA NA 10p13 NA NA NA NA rs2277222 0.4 0.4 0.373 0.35643 0.3429 0.6696 0.3458 0.1218 0.3722 0.36 0.69 0.34 0.14 0.373 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 1.063856 NA NA 0.328953 0.158193 NA 0.217 NA 4.6218136 1198 12 66605228 66605228 A G exonic IRAK3 NA nonsynonymous SNV IRAK3:NM_001142523:exon4:c.A256G:p.I86V,IRAK3:NM_007199:exon5:c.A439G:p.I147V exonic ENSG00000090376 NA nonsynonymous SNV ENSG00000090376:ENST00000457197:exon4:c.A256G:p.I86V,ENSG00000090376:ENST00000261233:exon5:c.A439G:p.I147V NA NA 12q14.3 NA NA NA NA rs1152888 0.72 0.72 0.66 0.708866 0.9155 0.5794 0.902 0.4206 0.8824 0.92 0.6 0.9 0.41 0.863 0.93 . . 0.01 B 0.007 B 0.217 N 0.841 P 0.895 L -0.6 T -1.024 T 0.000 T 0.035 -1.13 0.117 0.744 -0.101 -0.341 4.870 -1.130099 NA 1 0.933225 0.492734 NA 0.688 NA 4.6216084 1198 12 7592035 7592035 G T intronic CD163L1 NA NA NA ncRNA_exonic ENSG00000255836 NA NA NA Score=436;Name=lod=79 NA 12p13.31 NA NA NA NA rs10772330 0.45 0.45 0.427 0.390575 0.7127 0.3651 0.4366 0.0643 0.4939 0.71 0.39 0.5 0.08 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 -0.414676 NA NA NA NA NA 0.428 NA 4.6206333 1198 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 1198 15 25453231 25453231 G C ncRNA_intronic SNORD115-15,SNORD115-21 NA NA NA ncRNA_exonic ENSG00000199833 NA NA NA NA NA 15q11.2 NA NA NA NA rs72546356 NA NA NA 0.0157748 0.0268 NA 0.0115 0.028 0.0072 NA NA NA NA 0.0211 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.800516 NA NA NA NA NA NA NA 4.6187666 1198 17 29508775 29508775 G A exonic NF1 NA synonymous SNV NF1:NM_000267:exon7:c.G702A:p.L234L,NF1:NM_001042492:exon7:c.G702A:p.L234L,NF1:NM_001128147:exon7:c.G702A:p.L234L exonic ENSG00000196712 NA synonymous SNV ENSG00000196712:ENST00000356175:exon7:c.G702A:p.L234L,ENSG00000196712:ENST00000358273:exon7:c.G702A:p.L234L,ENSG00000196712:ENST00000431387:exon7:c.G702A:p.L234L,ENSG00000196712:ENST00000579081:exon7:c.G804A:p.L268L NA NA 17q11.2 Score=796;Name=V$OCT1_04 NA NA NA rs1801052 0.55 0.55 0.509 0.511781 0.7157 0.5506 0.5288 0.2307 0.6299 0.72 0.59 0.58 0.22 0.6228 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484826 NA NA 0.710079 0.309805 NA 0.413 NA 4.6180876 1198 7 149513152 149513152 C T exonic SSPO NA synonymous SNV SSPO:NM_198455:exon77:c.C11055T:p.R3685R ncRNA_exonic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs7791767 0.2 0.2 0.18 0.210663 0.1571 0.1746 0.2176 0.2693 0.2188 0.15 0.19 0.24 0.26 0.2356 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.225897 NA NA 0.155927 0.203406 NA 0.109 NA 4.6180396 1198 13 101264633 101264633 C T intronic TMTC4 NA NA NA intronic ENSG00000125247 NA NA NA NA NA 13q32.3 NA Name=NFKB Name=25 NA rs1572641 0.52 0.52 0.508 0.520567 0.4592 0.5883 0.5562 0.5098 0.5031 0.47 0.57 0.5 0.55 0.4979 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.981055 NA NA 0.425116 0.493872 NA 0.493 NA 4.617784 1198 3 13670481 13670481 A G exonic FBLN2 NA synonymous SNV FBLN2:NM_001998:exon11:c.A2505G:p.T835T,FBLN2:NM_001004019:exon12:c.A2646G:p.T882T,FBLN2:NM_001165035:exon12:c.A2646G:p.T882T exonic ENSG00000163520 NA synonymous SNV ENSG00000163520:ENST00000295760:exon11:c.A2505G:p.T835T,ENSG00000163520:ENST00000535798:exon11:c.A2583G:p.T861T,ENSG00000163520:ENST00000404922:exon12:c.A2646G:p.T882T,ENSG00000163520:ENST00000492059:exon12:c.A2646G:p.T882T NA NA 3p25.1 Score=821;Name=V$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 1198 3 108677821 108677821 C A exonic MORC1 NA synonymous SNV MORC1:NM_014429:exon28:c.G2946T:p.S982S exonic ENSG00000114487 NA synonymous SNV ENSG00000114487:ENST00000483760:exon27:c.G2883T:p.S961S,ENSG00000114487:ENST00000232603:exon28:c.G2946T:p.S982S NA NA 3q13.13 NA NA NA NA rs2197737 0.29 0.29 0.282 0.305511 0.3678 0.1071 0.2421 0.3933 0.3722 0.37 0.08 0.3 0.41 0.331 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.586348 NA NA 0.350454 0.398544 NA 0.377 NA 4.6174126 1198 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 1198 1 165601466 165601466 G A intronic MGST3 NA NA NA splicing ENSG00000143198 NA NA NA NA NA 1q24.1 NA Name=ELF1_(SC-631),eGFP-JunB,USF2,USF-1,AP-2alpha,c-Fos,AP-2gamma,GATA3_(SC-268) Name=132 NA rs9333378 0.65 0.65 0.625 0.651558 0.6083 0.9633 0.6844 0.326 0.7914 0.6 0.98 0.64 0.34 0.6702 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 -0.229751 NA NA 0.604972 0.380137 NA 0.558 NA 4.616528 1198 17 4352539 4352539 C T exonic SPNS3 NA synonymous SNV SPNS3:NM_182538:exon7:c.C780T:p.F260F exonic ENSG00000182557 NA synonymous SNV ENSG00000182557:ENST00000333476:exon6:c.C399T:p.F133F,ENSG00000182557:ENST00000355530:exon7:c.C780T:p.F260F Score=461;Name=lod=100 NA 17p13.2 NA NA NA NA rs7224464 0.49 0.49 0.474 0.483227 0.6998 0.1577 0.6729 0.4387 0.5215 0.71 0.15 0.69 0.43 0.6349 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072199 NA NA 0.715465 0.455969 NA 0.551 NA 4.6165016 1198 6 154414573 154414573 C T exonic OPRM1 NA synonymous SNV OPRM1:NM_001008505:exon4:c.C1333T:p.L445L exonic ENSG00000112038 NA synonymous SNV ENSG00000112038:ENST00000229768:exon4:c.C1333T:p.L445L NA NA 6q25.2 NA NA Name=5 NA rs562859 0.72 0.72 0.706 0.749201 0.675 0.9048 0.719 0.6316 0.8456 0.68 0.9 0.73 0.59 0.7106 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 -0.064028 NA NA 0.665705 0.635342 NA 0.652 NA 4.6153616 1199 11 111249819 111249819 A G intronic POU2AF1 NA NA NA intronic ENSG00000110777 NA NA NA NA NA 11q23.1 NA Name=Oct-2,POU2F2,Pol2,EBF1_(C-8),Pol2-4H8 Name=59 NA rs10789825 NA NA 0.52 0.473043 0.6968 0.3204 0.7464 0.3495 0.3732 NA NA NA NA 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 1.209944 NA NA 0.688246 0.401012 NA 0.413 NA 4.614954 1199 18 8387195 8387195 G A exonic PTPRM NA synonymous SNV PTPRM:NM_002845:exon29:c.G4131A:p.E1377E,PTPRM:NM_001105244:exon31:c.G4170A:p.E1390E exonic ENSG00000173482 NA synonymous SNV ENSG00000173482:ENST00000444013:exon25:c.G3492A:p.E1164E,ENSG00000173482:ENST00000332175:exon29:c.G4131A:p.E1377E,ENSG00000173482:ENST00000400053:exon29:c.G3945A:p.E1315E,ENSG00000173482:ENST00000400060:exon31:c.G4173A:p.E1391E,ENSG00000173482:ENST00000580170:exon31:c.G4170A:p.E1390E NA NA 18p11.23 Score=878;Name=V$SOX9_B1 NA NA NA rs593978 0.65 0.65 0.621 0.634385 0.6779 0.7361 0.7882 0.4637 0.6063 0.68 0.72 0.76 0.45 0.684 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 -0.548074 NA NA 0.689884 0.51566 NA 0.696 NA 4.6148826 1199 3 197566254 197566254 T C exonic LRCH3 NA synonymous SNV LRCH3:NM_032773:exon10:c.T1314C:p.Y438Y exonic ENSG00000186001 NA synonymous SNV ENSG00000186001:ENST00000536618:exon5:c.T99C:p.Y33Y,ENSG00000186001:ENST00000441090:exon7:c.T852C:p.Y284Y,ENSG00000186001:ENST00000334859:exon10:c.T1314C:p.Y438Y,ENSG00000186001:ENST00000414675:exon10:c.T1230C:p.Y410Y,ENSG00000186001:ENST00000425562:exon10:c.T1314C:p.Y438Y,ENSG00000186001:ENST00000438796:exon10:c.T1314C:p.Y438Y NA NA 3q29 NA NA NA NA rs17850206 0.36 0.36 0.353 0.318291 0.331 0.371 0.4265 0.2368 0.2843 0.34 0.41 0.43 0.27 0.3648 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.443971 NA NA 0.356212 0.24739 NA 0.5 NA 4.6146546 1199 1 236755837 236755837 C T exonic HEATR1 NA synonymous SNV HEATR1:NM_018072:exon10:c.G1290A:p.R430R exonic ENSG00000119285 NA synonymous SNV ENSG00000119285:ENST00000366581:exon10:c.G1290A:p.R430R,ENSG00000119285:ENST00000366582:exon10:c.G1290A:p.R430R Score=508;Name=lod=155 NA 1q43 NA NA NA NA rs2564739 0.61 0.61 0.586 0.559505 0.6998 0.7242 0.6009 0.329 0.5276 0.69 0.73 0.6 0.36 0.6416 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 0.790607 NA NA 0.71192 0.386612 ID=COSM146834;OCCURENCE=1(stomach) 0.623 NA 4.6133466 1199 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 1199 15 75183935 75183935 G A intronic MPI NA NA NA intronic ENSG00000178802 NA NA NA NA NA 15q24.1 NA Name=HNF4G_(SC-6558) NA NA rs11638130 0.28 0.28 0.247 0.213658 0.492 0.1081 0.4712 0.0219 0.1125 0.48 0.13 0.47 0.02 0.3689 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.073253 NA NA 0.525844 0.099454 NA 0.377 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080012.1;CLNDSDB=.;CLNDSDBID=. 4.613256 1199 22 35463179 35463179 T C exonic ISX NA synonymous SNV ISX:NM_001008494:exon1:c.T99C:p.I33I exonic ENSG00000175329 NA synonymous SNV ENSG00000175329:ENST00000308700:exon1:c.T99C:p.I33I,ENSG00000175329:ENST00000404699:exon2:c.T99C:p.I33I Score=445;Name=lod=86 NA 22q12.3 NA NA NA NA rs361668 0.76 0.76 0.756 0.79972 0.671 0.8552 0.6441 0.8752 0.8834 0.69 0.85 0.68 0.84 0.7243 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 1.504785 1.504785 NA 0.658953 0.856332 NA 0.638 NA 4.6124136 1199 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 1199 3 137881265 137881265 T A exonic DBR1 NA synonymous SNV DBR1:NM_016216:exon8:c.A1101T:p.T367T exonic ENSG00000138231 NA synonymous SNV ENSG00000138231:ENST00000260803:exon8:c.A1101T:p.T367T,ENSG00000138231:ENST00000505015:exon9:c.A399T:p.T133T NA NA 3q22.3 NA NA Name=2 NA rs3732839 0.69 0.69 0.664 0.693291 0.6849 0.5526 0.7435 0.8124 0.6503 0.68 0.56 0.73 0.82 0.6801 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 1.134526 NA NA 0.69 0.797549 NA 0.703 NA 4.6116666 1199 16 397044 397044 G T UTR5 AXIN1 NM_181050:c.-19C>A,NM_003502:c.-19C>A NA NA UTR5 ENSG00000103126 ENST00000262320:c.-19C>A,ENST00000354866:c.-19C>A NA NA NA NA 16p13.3 Score=935;Name=V$SOX5_01 NA NA NA rs758033 0.17 0.17 0.165 0.201478 0.2406 0.1052 0.1902 0.1581 0.3272 0.23 0.11 0.21 0.12 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 -0.075317 NA NA 0.256106 0.163562 ID=COSN165083;OCCURENCE=1(breast) 0.196 NA 4.6114274 1199 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 1199 1 207646322 207646322 G A exonic CR2 NA synonymous SNV CR2:NM_001006658:exon10:c.G1776A:p.L592L,CR2:NM_001877:exon10:c.G1776A:p.L592L exonic ENSG00000117322 NA synonymous SNV ENSG00000117322:ENST00000367057:exon10:c.G1776A:p.L592L,ENSG00000117322:ENST00000367058:exon10:c.G1776A:p.L592L,ENSG00000117322:ENST00000367059:exon10:c.G1776A:p.L592L,ENSG00000117322:ENST00000458541:exon10:c.G1695A:p.L565L NA NA 1q32.2 NA NA NA NA rs1048971 0.4 0.4 0.447 0.400359 0.3499 0.2024 0.2666 0.7595 0.2658 0.36 0.22 0.31 0.75 0.3505 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 -1.438349 NA NA 0.355349 0.68906 NA 0.399 NA 4.6109176 1199 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 1199 10 126681219 126681219 G C intronic CTBP2 NA NA NA intronic ENSG00000175029 NA NA NA NA NA 10q26.13 NA Name=CTCF,CTCF_(SC-5916),CTCF_(C-20),Rad21,SMC3_(ab9263) 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 1199 19 39002691 39002691 C T intronic RYR1 NA NA NA intronic ENSG00000196218 NA NA NA NA NA 19q13.2 NA NA NA NA rs2960338 0.15 0.15 0.134 0.171126 0.1392 0.0556 0.1772 0.2799 0.1718 0.15 0.06 0.16 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 -0.399675 NA NA 0.105 0.240808 NA 0.138 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000119765.1;CLNDSDB=.;CLNDSDBID=. 4.61 1199 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 1199 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,Pol2-4H8,CTCF_(SC-5916),c-Myc 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 1199 1 175324651 175324651 A G exonic TNR NA synonymous SNV TNR:NM_003285:exon17:c.T3237C:p.D1079D exonic ENSG00000116147 NA synonymous SNV ENSG00000116147:ENST00000367674:exon17:c.T3237C:p.D1079D,ENSG00000116147:ENST00000263525:exon18:c.T3237C:p.D1079D Score=474;Name=lod=113 NA 1q25.1 NA NA NA NA rs2228359 0.69 0.69 0.672 0.665735 0.6819 0.7946 0.7104 0.5197 0.682 0.68 0.83 0.7 0.54 0.6892 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 -0.604853 NA NA 0.68593 0.536995 NA 0.71 NA 4.6096366 1199 16 84213114 84213114 C T exonic TAF1C NA synonymous SNV TAF1C:NM_001243158:exon11:c.G1047A:p.V349V,TAF1C:NM_001243157:exon12:c.G1047A:p.V349V,TAF1C:NM_001243160:exon12:c.G612A:p.V204V,TAF1C:NM_001243159:exon14:c.G816A:p.V272V,TAF1C:NM_005679:exon14:c.G2043A:p.V681V,TAF1C:NM_001243156:exon15:c.G1965A:p.V655V,TAF1C:NM_139353:exon15:c.G1761A:p.V587V exonic ENSG00000103168 NA synonymous SNV ENSG00000103168:ENST00000570117:exon11:c.G1047A:p.V349V,ENSG00000103168:ENST00000378541:exon13:c.G2043A:p.V681V,ENSG00000103168:ENST00000567759:exon14:c.G2043A:p.V681V,ENSG00000103168:ENST00000341690:exon15:c.G1761A:p.V587V,ENSG00000103168:ENST00000541676:exon15:c.G1764A:p.V588V,ENSG00000103168:ENST00000566732:exon15:c.G1965A:p.V655V NA NA 16q24.1 NA NA NA NA rs2230130 0.32 0.32 0.322 0.286741 0.3469 0.371 0.4135 0.1256 0.2658 0.35 0.41 0.36 0.15 0.3512 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.713831 NA NA 0.359004 0.170382 NA 0.203 NA 4.6095626 1199 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 1199 2 75933830 75933830 T A intronic GCFC2 NA NA NA intronic ENSG00000005436 NA NA NA NA NA 2p12 Score=830;Name=V$HNF1_01 NA NA NA rs6728499 0.49 0.49 0.507 0.509385 0.3907 0.379 0.4568 0.7905 0.4233 0.4 0.39 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 -0.016589 NA NA NA NA ID=COSN166146;OCCURENCE=1(breast) 0.572 NA 4.6093 1199 6 152382311 152382311 G T intronic ESR1 NA NA NA intronic ENSG00000091831 NA NA NA NA NA 6q25.1 NA Name=Pol2 NA NA rs2273206 0.24 0.24 0.229 0.277356 0.1044 0.3661 0.1066 0.4622 0.2352 0.11 0.32 0.11 0.42 0.1777 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.338283 1.338283 NA 0.108922 0.408817 NA 0.232 NA 4.608978 1199 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 1199 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 1199 13 32890572 32890572 G A UTR5 BRCA2 NM_000059:c.-26G>A NA NA UTR5 ENSG00000139618 ENST00000380152:c.-26G>A,ENST00000544455:c.-26G>A,ENST00000530893:c.-8694G>A NA NA NA NA 13q13.1 NA NA NA NA rs1799943 0.22 0.22 0.214 0.209265 0.2157 0.3601 0.2075 0.0651 0.2434 0.23 0.37 0.19 0.05 0.2465 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369834 NA NA 0.263256 0.102587 NA 0.181 CLINSIG=non-pathogenic|untested;CLNDBN=Breast-ovarian_cancer\x2c_familial_2|Familial_cancer_of_breast,Breast-ovarian_cancer\x2c_familial_2,Breast-ovarian_cancer\x2c_familial_2;CLNREVSTAT=mult|not,single,single;CLNACC=RCV000112977.1|RCV000114981.1,RCV000112978.1,RCV000112979.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT,GeneReviews:MedGen:OMIM:Orphanet,GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1247:C2675520:612555:ORPHA145|NBK1247:C0346153:114480:254843006,NBK1247:C2675520:612555:ORPHA145,NBK1247:C2675520:612555:ORPHA145 4.6078774 1199 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 1199 8 74527996 74527996 C T exonic STAU2 NA nonsynonymous SNV STAU2:NM_001164383:exon3:c.G76A:p.V26M,STAU2:NM_001164385:exon5:c.G478A:p.V160M,STAU2:NM_001164382:exon6:c.G280A:p.V94M,STAU2:NM_001164384:exon6:c.G496A:p.V166M,STAU2:NM_001164381:exon7:c.G496A:p.V166M,STAU2:NM_014393:exon7:c.G496A:p.V166M,STAU2:NM_001164380:exon8:c.G592A:p.V198M exonic ENSG00000040341 NA nonsynonymous SNV ENSG00000040341:ENST00000518767:exon3:c.G76A:p.V26M,ENSG00000040341:ENST00000523558:exon3:c.G76A:p.V26M,ENSG00000040341:ENST00000517542:exon5:c.G478A:p.V160M,ENSG00000040341:ENST00000518981:exon5:c.G532A:p.V178M,ENSG00000040341:ENST00000521727:exon5:c.G532A:p.V178M,ENSG00000040341:ENST00000522695:exon5:c.G496A:p.V166M,ENSG00000040341:ENST00000519961:exon6:c.G592A:p.V198M,ENSG00000040341:ENST00000521210:exon6:c.G280A:p.V94M,ENSG00000040341:ENST00000521447:exon6:c.G496A:p.V166M,ENSG00000040341:ENST00000522509:exon6:c.G496A:p.V166M,ENSG00000040341:ENST00000355780:exon7:c.G496A:p.V166M,ENSG00000040341:ENST00000524300:exon8:c.G592A:p.V198M NA NA 8q21.11 NA NA NA NA rs949493 0.88 0.88 0.881 0.854633 0.9175 0.9692 0.7867 0.7761 0.8262 0.92 0.96 0.81 0.76 0.8879 0.96 0.16 T 0.018 B 0.019 B 0.016 N 0.492 P . . 1.51 T -1.057 T 0.000 T 0.079 1.579 11.23 1.91 0.150 -0.181 1.860 1.578663 1.578663 0.19 0.920465 0.816841 NA 0.797 NA 4.6074684 1199 6 47847401 47847401 A G exonic PTCHD4 NA synonymous SNV PTCHD4:NM_001013732:exon3:c.T1179C:p.A393A exonic ENSG00000244694 NA synonymous SNV ENSG00000244694:ENST00000339488:exon3:c.T1179C:p.A393A Score=720;Name=lod=1127 NA 6p12.3 NA NA NA NA rs2068006 0.68 0.68 0.638 0.648962 0.6769 0.746 0.7911 0.4592 0.6759 0.68 0.76 0.78 0.51 0.698 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 -0.075525 NA NA 0.684651 0.511348 NA 0.667 NA 4.6071156 1199 19 9213026 9213026 T C exonic OR7G2 NA synonymous SNV OR7G2:NM_001005193:exon1:c.A957G:p.K319K exonic ENSG00000170923 NA synonymous SNV ENSG00000170923:ENST00000305456:exon1:c.A957G:p.K319K NA NA 19p13.2 NA NA NA NA rs4804400 0.35 0.35 0.338 0.332867 0.3718 0.5575 0.2853 0.1059 0.4018 0.37 0.56 0.28 0.13 0.3376 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.452518 NA NA 0.350349 0.146164 NA 0.341 NA 4.6069176 1199 16 23197562 23197562 A G UTR5 SCNN1G NM_001039:c.-31A>G NA NA UTR5 ENSG00000166828 ENST00000300061:c.-31A>G NA NA NA NA 16p12.2 NA Name=EBF NA NA rs5732 0.2 0.2 0.163 0.196885 0.2455 0.1488 0.3588 0.1036 0.2076 0.24 0.16 0.3 0.11 0.2378 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.10177 NA NA 0.243837 0.125853 NA 0.101 NA 4.6061964 1199 15 55790352 55790352 A G ncRNA_intronic DYX1C1-CCPG1 NA NA NA ncRNA_intronic ENSG00000261771 NA NA NA NA NA 15q21.3 NA NA NA NA rs74475478 0.03 0.03 0.021 0.0255591 0.0606 NA 0.0259 0.0151 0.0297 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 0.007206 NA NA NA NA NA 0.022 NA 4.6060666 1199 15 24923390 24923390 C T exonic NPAP1 NA synonymous SNV NPAP1:NM_018958:exon1:c.C2376T:p.F792F exonic ENSG00000185823 NA synonymous SNV ENSG00000185823:ENST00000329468:exon1:c.C2376T:p.F792F NA NA 15q11.2 NA NA NA NA rs60574723 0.42 0.42 0.433 0.43131 0.3539 0.4742 0.3357 0.5401 0.3875 0.38 0.45 0.33 0.51 0.3736 0.51 NA NA 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 0.33407 0.508171 NA 0.333 NA 4.6050966 1199 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 1200 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 1200 X 55289774 55289774 T C ncRNA_exonic PAGE3 NA NA NA exonic ENSG00000204279 NA nonsynonymous SNV ENSG00000204279:ENST00000374951:exon3:c.A103G:p.N35D,ENSG00000204279:ENST00000519203:exon3:c.A103G:p.N35D NA NA Xp11.21 NA NA NA NA rs4826381 0.86 0.86 0.83307 NA NA NA NA NA NA 0.97 1 0.93 0.48 0.9273 1 0.91 T 0.0 B 0.001 B . . 1.000 P . . 3.22 T -0.999 T 0.000 T 0.023 -2.166 0.005 1.1 0.003 -0.075 3.431 -2.166149 NA 0.68 0.968193 0.5309 NA 0.58 NA 4.604507 1200 7 138583840 138583840 C A exonic KIAA1549 NA synonymous SNV KIAA1549:NM_001164665:exon9:c.G3708T:p.P1236P,KIAA1549:NM_020910:exon9:c.G3708T:p.P1236P exonic ENSG00000122778 NA synonymous SNV ENSG00000122778:ENST00000242365:exon8:c.G3558T:p.P1186P,ENSG00000122778:ENST00000422774:exon9:c.G3708T:p.P1236P,ENSG00000122778:ENST00000440172:exon9:c.G3708T:p.P1236P NA NA 7q34 Score=696;Name=V$PPARG_02 NA NA NA rs7802841 0.78 0.78 0.781 0.755391 0.6491 0.8998 0.8156 0.7519 0.6779 0.66 0.93 0.8 0.78 0.7176 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 0.419585 NA NA 0.695782 0.751623 NA 0.775 NA 4.6041846 1200 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 1200 13 25283657 25283657 G C intronic ATP12A NA NA NA intronic ENSG00000075673 NA NA NA NA NA 13q12.12 NA Name=EBF1_(C-8) Name=11 NA rs2289910 0.4 0.4 0.402 0.377596 0.503 0.372 0.3588 0.3086 0.3609 0.51 0.34 0.38 0.33 0.4176 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310676 NA NA 0.475465 0.334317 NA 0.362 NA 4.603935 1200 1 151209063 151209063 C T exonic PIP5K1A NA synonymous SNV PIP5K1A:NM_001135636:exon8:c.C933T:p.Y311Y,PIP5K1A:NM_001135637:exon8:c.C930T:p.Y310Y,PIP5K1A:NM_003557:exon8:c.C930T:p.Y310Y,PIP5K1A:NM_001135638:exon9:c.C969T:p.Y323Y exonic ENSG00000143398 NA synonymous SNV ENSG00000143398:ENST00000414290:exon2:c.C72T:p.Y24Y,ENSG00000143398:ENST00000349792:exon8:c.C930T:p.Y310Y,ENSG00000143398:ENST00000368890:exon8:c.C930T:p.Y310Y,ENSG00000143398:ENST00000409426:exon8:c.C933T:p.Y311Y,ENSG00000143398:ENST00000441902:exon8:c.C933T:p.Y311Y,ENSG00000143398:ENST00000368888:exon9:c.C969T:p.Y323Y Score=599;Name=lod=362 NA 1q21.3 NA NA NA NA rs12407426 0.65 0.65 0.632 0.641374 0.7008 0.6121 0.6138 0.6657 0.5971 0.71 0.58 0.64 0.66 0.6618 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.308682 NA NA 0.700233 0.660463 NA 0.768 NA 4.6038336 1200 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 1200 11 10655623 10655623 C T intronic MRVI1 NA NA NA splicing ENSG00000072952 ENST00000526414:exon4:c.70-2G>A NA NA NA NA 11p15.4 NA NA NA NA rs11042902 0.19 0.19 0.177 0.174521 0.2913 0.0308 0.2104 0.1921 0.1534 0.29 0.01 0.25 0.19 0.3024 0.3 . . . . . . . . 1.000 P . . . . . . . . . 0.026 4.147 -1.41 -0.375 -0.067 1.031 0.025721 NA NA 0.302714 0.190738 NA 0.159 NA 4.603586 1200 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 1200 17 1686600 1686600 G A intronic SMYD4 NA NA NA intronic ENSG00000186532 NA NA NA NA NA 17p13.3 NA NA Name=20 NA rs12149986 0.26 0.26 0.244 0.210463 0.3966 0.246 0.2291 0.0567 0.1769 0.41 0.24 0.26 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 0.050613 NA NA NA NA NA 0.239 NA 4.6034 1200 6 33648228 33648228 C T splicing ITPR3 NM_002224:exon32:c.4345+2C>T NA NA exonic ENSG00000096433 NA synonymous SNV ENSG00000096433:ENST00000605930:exon32:c.C4347T:p.A1449A,ENSG00000096433:ENST00000374316:exon33:c.C4347T:p.A1449A Score=543;Name=lod=215 NA 6p21.31 Score=776;Name=V$PPARA_01 NA NA NA rs2229638 0.92 0.92 0.917 0.913738 0.9185 0.9881 0.9366 0.8328 0.9254 0.92 0.99 0.93 0.82 0.9159 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 0.886039 NA NA 0.895581 0.855878 NA 0.826 NA 4.6033523 1200 6 160858188 160858188 G A exonic SLC22A3 NA synonymous SNV SLC22A3:NM_021977:exon7:c.G1233A:p.A411A exonic ENSG00000146477 NA synonymous SNV ENSG00000146477:ENST00000275300:exon7:c.G1233A:p.A411A,ENSG00000146477:ENST00000392145:exon7:c.G1233A:p.A411A NA NA 6q25.3 NA NA NA NA rs2292334 0.34 0.34 0.293 0.310903 0.3529 0.4603 0.4625 0.1006 0.2904 0.35 0.47 0.41 0.14 0.348 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.944344 NA NA 0.363488 0.136405 NA 0.268 NA 4.6022786 1200 3 3084653 3084653 C T intronic CNTN4 NA NA NA ncRNA_exonic ENSG00000237990 NA NA NA Score=543;Name=lod=215 NA 3p26.2 NA NA NA NA rs6800354 0.22 0.22 0.24 0.221446 0.2565 0.1121 0.2075 0.3275 0.1646 0.24 0.13 0.23 0.3 0.2245 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.967725 1.967725 NA 0.250233 0.329097 NA 0.232 NA 4.6021003 1200 10 13481427 13481427 T A exonic BEND7 NA synonymous SNV BEND7:NM_152751:exon9:c.A1152T:p.S384S exonic ENSG00000165626 NA synonymous SNV ENSG00000165626:ENST00000341083:exon9:c.A1152T:p.S384S,ENSG00000165626:ENST00000396900:exon9:c.A1305T:p.S435S NA NA 10p13 NA NA NA NA rs12415754 0.38 0.38 0.337 0.333067 0.3559 0.6667 0.3401 0.0257 0.3763 0.38 0.69 0.33 0.04 0.3728 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 -0.2619 NA NA 0.336047 0.080345 NA 0.196 NA 4.6019196 1200 9 136132957 136132957 C T intronic ABO NA NA NA ncRNA_intronic ENSG00000175164 NA NA NA NA NA 9q34.2 NA NA Name=17 NA rs8176718 0.28 0.28 0.272 0.278355 0.2217 0.2887 0.4308 0.2731 0.2249 0.22 0.28 0.38 0.28 0.2714 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.13541 NA NA 0.238674 0.24765 NA 0.196 NA 4.6015593 1200 9 139904037 139904037 A G exonic ABCA2 NA synonymous SNV ABCA2:NM_001606:exon44:c.T6690C:p.L2230L,ABCA2:NM_212533:exon44:c.T6780C:p.L2260L exonic ENSG00000107331 NA synonymous SNV ENSG00000107331:ENST00000371605:exon43:c.T6687C:p.L2229L,ENSG00000107331:ENST00000265662:exon44:c.T6690C:p.L2230L,ENSG00000107331:ENST00000341511:exon44:c.T6690C:p.L2230L Score=595;Name=lod=348 NA 9q34.3 NA NA NA NA rs7048567 0.69 0.69 0.722 0.720048 0.6759 0.8194 0.5605 0.7171 0.7802 0.67 0.82 0.57 0.68 0.691 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 1.21247 NA NA 0.698649 0.727857 NA 0.754 NA 4.6011176 1200 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 1200 8 139727981 139727981 A G intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 Score=779;Name=V$E2F_01 NA NA NA rs9324493 0.14 0.14 0.14 0.135982 0.1431 0.0496 0.1066 0.2534 0.0798 0.16 0.06 0.11 0.23 0.1269 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.210069 NA NA 0.129186 0.232864 NA 0.109 NA 4.600814 1200 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 1200 17 16336992 16336992 C G exonic TRPV2 NA synonymous SNV TRPV2:NM_016113:exon13:c.C2094G:p.P698P exonic ENSG00000187688 NA synonymous SNV ENSG00000187688:ENST00000577865:exon2:c.C168G:p.P56P,ENSG00000187688:ENST00000581560:exon2:c.C351G:p.P117P,ENSG00000187688:ENST00000577397:exon11:c.C804G:p.P268P,ENSG00000187688:ENST00000338560:exon13:c.C2094G:p.P698P NA NA 17p11.2 NA NA NA NA rs14039 0.33 0.33 0.315 0.288139 0.3579 0.2232 0.3401 0.3124 0.2137 0.35 0.25 0.38 0.33 0.3311 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.197333 NA NA 0.377209 0.332274 ID=COSM148202;OCCURENCE=1(stomach) 0.319 NA 4.6004576 1200 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 1200 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 1200 17 3100827 3100827 T C exonic OR1A2 NA synonymous SNV OR1A2:NM_012352:exon1:c.T15C:p.N5N exonic ENSG00000172150 NA synonymous SNV ENSG00000172150:ENST00000381951:exon1:c.T15C:p.N5N NA NA 17p13.3 NA NA NA NA rs2241093 0.33 0.33 0.287 0.291534 0.3509 0.5605 0.2853 0.0613 0.2689 0.35 0.55 0.33 0.07 0.347 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.349443 NA NA 0.370233 0.116432 ID=COSM148147;OCCURENCE=1(stomach) 0.29 NA 4.5985336 1200 17 43192821 43192821 A G exonic PLCD3 NA unknown UNKNOWN exonic ENSG00000161714 NA synonymous SNV ENSG00000161714:ENST00000322765:exon9:c.T1450C:p.L484L Score=527;Name=lod=185 NA 17q21.31 NA NA NA NA rs713101 0.59 0.59 0.557 0.543331 0.5885 0.6746 0.536 0.4576 0.4826 0.57 0.7 0.6 0.46 0.5748 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 0.919181 NA NA 0.571617 0.488136 ID=COSM436724;OCCURENCE=1(breast) 0.514 NA 4.5984163 1200 1 153271524 153271524 C T intronic PGLYRP3 NA NA NA intronic ENSG00000159527 NA NA NA NA NA 1q21.3 NA Name=ZNF263 NA NA rs821431 0.52 0.52 0.537 0.557508 0.4016 0.7083 0.5216 0.5719 0.5685 0.38 0.69 0.49 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 1.109303 NA NA NA NA NA 0.659 NA 4.5984 1200 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 1200 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,Egr-1,SP1,IRF1,Pol2 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 1200 1 8418644 8418644 C A exonic RERE NA synonymous SNV RERE:NM_001042682:exon10:c.G2289T:p.R763R,RERE:NM_001042681:exon20:c.G3951T:p.R1317R,RERE:NM_012102:exon21:c.G3951T:p.R1317R exonic ENSG00000142599 NA synonymous SNV ENSG00000142599:ENST00000476556:exon10:c.G2289T:p.R763R,ENSG00000142599:ENST00000377464:exon14:c.G3147T:p.R1049R,ENSG00000142599:ENST00000400908:exon20:c.G3951T:p.R1317R,ENSG00000142599:ENST00000337907:exon21:c.G3951T:p.R1317R NA NA 1p36.23 Score=846;Name=V$ZID_01 NA NA NA rs11121172 0.78 0.78 0.754 0.797524 0.669 0.8978 0.7795 0.8638 0.7495 0.65 0.9 0.78 0.83 0.7221 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 -1.586562 NA NA 0.677382 0.835698 ID=COSM681943;OCCURENCE=1(lung) 0.717 NA 4.5981846 1200 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 1200 13 101735211 101735211 G A exonic NALCN NA synonymous SNV NALCN:NM_052867:exon33:c.C3714T:p.T1238T exonic ENSG00000102452 NA synonymous SNV ENSG00000102452:ENST00000251127:exon33:c.C3714T:p.T1238T NA NA 13q33.1 NA NA NA NA rs17677552 0.33 0.33 0.327 0.326078 0.3668 0.506 0.2536 0.118 0.4315 0.38 0.46 0.28 0.14 0.3513 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.899094 NA NA 0.350581 0.13005 NA 0.29 NA 4.5979856 1200 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 1200 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 1200 8 6479178 6479178 C A exonic MCPH1 NA synonymous SNV MCPH1:NM_024596:exon13:c.C2418A:p.A806A exonic ENSG00000147316 NA synonymous SNV ENSG00000147316:ENST00000344683:exon13:c.C2418A:p.A806A NA NA 8p23.1 NA NA NA NA rs2912016 0.4 0.4 0.411 0.39377 0.3618 0.4375 0.2925 0.4304 0.4039 0.36 0.45 0.31 0.48 0.3681 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.80903 NA NA 0.340067 0.408237 NA 0.616 NA 4.5966996 1200 10 97990583 97990583 A G exonic BLNK NA synonymous SNV BLNK:NM_001114094:exon4:c.T171C:p.P57P,BLNK:NM_001258440:exon4:c.T171C:p.P57P,BLNK:NM_001258441:exon4:c.T171C:p.P57P,BLNK:NM_001258442:exon4:c.T171C:p.P57P,BLNK:NM_013314:exon4:c.T171C:p.P57P exonic ENSG00000095585 NA synonymous SNV ENSG00000095585:ENST00000224337:exon4:c.T171C:p.P57P,ENSG00000095585:ENST00000371176:exon4:c.T171C:p.P57P,ENSG00000095585:ENST00000413476:exon4:c.T171C:p.P57P,ENSG00000095585:ENST00000427367:exon4:c.T171C:p.P57P,ENSG00000095585:ENST00000467799:exon4:c.T171C:p.P57P NA NA 10q24.1 NA Name=EBF,EBF1_(C-8) NA NA rs727852 0.51 0.51 0.443 0.461262 0.7127 0.4514 0.6571 0.1551 0.4877 0.71 0.47 0.66 0.16 0.6384 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.854476 NA NA 0.719302 0.243759 ID=COSM147002;OCCURENCE=1(stomach) 0.507 NA 4.5962646 1200 6 35423662 35423662 A C exonic FANCE NA synonymous SNV FANCE:NM_021922:exon2:c.A387C:p.P129P exonic ENSG00000112039 NA synonymous SNV ENSG00000112039:ENST00000229769:exon2:c.A387C:p.P129P NA NA 6p21.31 Score=821;Name=V$RFX1_01 NA NA NA rs4713867 0.76 0.76 0.758 0.777955 0.6779 0.7133 0.817 0.8911 0.7669 0.68 0.72 0.83 0.87 0.7211 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 -0.546196 NA NA 0.671744 0.860418 NA 0.688 NA 4.5959226 1200 22 39715140 39715140 C T intronic RPL3 NA NA NA intronic ENSG00000100316 NA NA NA NA NA 22q13.1 NA Name=Pol2-4H8,Pol2,Pol2(phosphoS2),Pol2(b) Name=48 NA rs470082 0.34 0.34 0.306 0.338658 0.493 0.119 0.4236 0.3298 0.3579 0.49 0.11 0.42 0.32 0.4234 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.226396 NA NA 0.488197 0.36016 NA 0.355 NA 4.595403 1200 8 61193526 61193526 G A intronic CA8 NA NA NA intronic ENSG00000178538 NA NA NA NA NA 8q12.1 NA Name=ZBTB7A_(SC-34508),E2F6 NA NA rs7003287 0.39 0.39 0.346 0.407748 0.4046 0.2679 0.3516 0.5303 0.4294 0.41 0.28 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 0.737086 NA NA NA NA NA 0.007 NA 4.5954 1200 19 41945848 41945848 G T upstream ATP5SL NA NA NA intronic ENSG00000105341 NA NA NA NA NA 19q13.2 NA Name=CEBPB,YY1,Egr-1,TBP,Pol2(b),GTF2F1_(RAP-74),ZNF263,SP1,IRF1,Rad21,c-Myc,YY1_(C-20),Mxi1_(bHLH),PAX5-C20,GABP,Pol2-4H8,NFKB,Znf143_(16618-1-AP),TAF1,RFX5_(N-494),ELF1_(SC-631),KAP1,HEY1,HA-E2F1,USF-1,Pol2,CTCF,E2F6_(H-50) 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 1201 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 1201 6 30071279 30071279 T G UTR3 TRIM31 NM_007028:c.*34A>C NA NA UTR3 ENSG00000204616 ENST00000376734:c.*34A>C,ENST00000540829:c.*34A>C NA NA NA NA 6p22.1 NA NA Name=147 NA rs1116222 0.24 0.24 0.235 0.258986 0.2227 0.1002 0.2262 0.3949 0.2996 0.24 0.11 0.25 0.41 0.255 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069859 NA NA 0.261078 0.345364 NA 0.297 NA 4.5945554 1201 5 75888788 75888788 G A intronic IQGAP2 NA NA NA intronic ENSG00000145703 NA NA NA NA NA 5q13.3 NA Name=MafF_(M8194),MafK_(ab50322) Name=2 NA rs3736394 0.52 0.52 0.507 0.597244 0.4463 0.4871 0.6354 0.6626 0.7505 0.45 0.46 0.6 0.63 0.5177 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.962933 NA NA 0.441498 0.608715 NA 0.514 NA 4.594502 1201 19 1004724 1004724 A G exonic GRIN3B NA synonymous SNV GRIN3B:NM_138690:exon3:c.A1224G:p.P408P exonic ENSG00000116032 NA synonymous SNV ENSG00000116032:ENST00000234389:exon3:c.A1224G:p.P408P NA NA 19p13.3 NA NA NA NA rs11880849 0.26 0.26 0.241 0.266374 0.3698 0.0893 0.2392 0.3154 0.2955 0.37 0.07 0.28 0.28 0.3327 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.334412 NA NA 0.369783 0.323516 NA 0.261 NA 4.5943836 1201 1 204125272 204125272 C A intronic REN NA NA NA intronic ENSG00000143839 NA NA NA NA NA 1q32.1 NA NA Name=2 NA rs3795574 0.2 0.2 0.193 0.216054 0.1223 0.1369 0.1066 0.4713 0.1268 0.12 0.14 0.11 0.44 0.1529 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.455758 NA NA 0.130814 0.390604 NA 0.254 NA 4.593986 1201 15 25460760 25460760 G A ncRNA_exonic SNORD115-25 NA NA NA ncRNA_exonic ENSG00000199489 NA NA NA NA NA 15q11.2 NA NA NA NA rs34280431 0.02 0.02 0.017 0.0169728 0.0268 NA 0.013 0.0303 0.0092 0.03 NA 0.01 0.03 0.0218 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 0.044196 NA NA 0.02436 0.034247 NA 0.058 NA 4.5937066 1201 1 173457017 173457017 C T UTR3 PRDX6 NM_004905:c.*15C>T NA NA UTR3 ENSG00000117592 ENST00000340385:c.*15C>T NA NA NA NA 1q25.1 NA Name=CTCF_(SC-5916),Pol2-4H8 NA NA rs78495657 0.44 0.44 0.485 0.416134 0.2058 0.5853 0.2565 0.6921 0.1984 0.21 0.61 0.25 0.71 0.293 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.869366 NA NA 0.24093 0.621425 NA 0.37 NA 4.5936034 1201 22 30769906 30769906 T C ncRNA_exonic KIAA1656 NA NA NA intronic ENSG00000187860 NA NA NA NA NA 22q12.2 Score=770;Name=V$PAX5_01 NA NA NA rs4820839 0.17 0.17 0.158 0.153554 0.2545 0.1458 0.1571 0.1331 0.0828 0.24 0.12 0.15 0.14 0.2368 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.924265 NA NA 0.248662 0.147086 NA 0.246 NA 4.5933713 1201 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 1201 12 70724053 70724053 G A intronic CNOT2 NA NA NA intronic ENSG00000111596 NA NA NA Score=764;Name=lod=1690 NA 12q15 NA NA NA NA rs11615947 0.07 0.07 0.073 0.0519169 0.161 0.001 0.0677 0.0053 0.044 0.16 0.0017 0.09 0.01 0.1056 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.45408 1.45408 NA 0.140233 0.031108 NA 0.116 NA 4.593167 1201 16 20873767 20873767 T G exonic DCUN1D3 NA synonymous SNV DCUN1D3:NM_173475:exon2:c.A94C:p.R32R exonic ENSG00000188215 NA synonymous SNV ENSG00000188215:ENST00000324344:exon2:c.A94C:p.R32R,ENSG00000188215:ENST00000563934:exon2:c.A94C:p.R32R Score=516;Name=lod=166 NA 16p12.3 NA NA NA NA rs7187522 0.53 0.53 0.507 0.559704 0.7068 0.379 0.6182 0.4818 0.6585 0.71 0.33 0.58 0.45 0.6484 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.011148 NA NA 0.718488 0.507497 NA 0.565 NA 4.5929786 1201 15 25456933 25456933 G A ncRNA_exonic PAR4 NA NA NA ncRNA_intronic ENSG00000224078 NA NA NA NA NA 15q11.2 NA NA NA NA rs36042159 0.02 0.02 0.019 0.024361 0.0268 NA 0.013 0.0582 0.0092 0.03 NA 0.01 0.05 0.0233 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 -0.781303 NA NA 0.02436 0.049658 NA 0.058 NA 4.5922066 1201 12 16109673 16109673 T G intronic DERA NA NA NA UTR5 ENSG00000023697 ENST00000526530:c.-1584T>G NA NA Score=243;Name=lod=13 NA 12p12.3 NA NA NA NA rs2306181 0.17 0.17 0.147 0.133187 0.3101 0.0149 0.255 0.0227 0.136 0.32 0.01 0.29 0.03 0.2644 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.233579 1.233579 NA NA NA NA 0.181 NA 4.5921667 1201 1 94343233 94343233 T C exonic DNTTIP2 NA synonymous SNV DNTTIP2:NM_014597:exon2:c.A258G:p.E86E exonic ENSG00000067334 NA synonymous SNV ENSG00000067334:ENST00000359208:exon2:c.A258G:p.E86E,ENSG00000067334:ENST00000436063:exon2:c.A258G:p.E86E,ENSG00000067334:ENST00000528680:exon2:c.A279G:p.E93E NA NA 1p22.1 NA Name=PU.1 NA NA rs3789457 0.76 0.76 0.743 0.759185 0.662 0.7857 0.8069 0.8094 0.7301 0.65 0.82 0.81 0.81 0.717 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 -1.637788 NA NA 0.6958 0.789666 NA 0.768 NA 4.5918666 1201 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 1201 9 123632045 123632045 A G exonic PHF19 NA synonymous SNV PHF19:NM_001009936:exon5:c.T543C:p.S181S exonic ENSG00000119403 NA synonymous SNV ENSG00000119403:ENST00000312189:exon5:c.T543C:p.S181S NA NA 9q33.2 NA NA Name=6 NA rs1056567 0.61 0.61 0.603 0.63778 0.6819 0.501 0.7824 0.5303 0.7761 0.69 0.49 0.76 0.55 0.7157 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 0.30214 NA NA 0.677798 0.580755 ID=COSM455269;OCCURENCE=1(breast) 0.638 NA 4.5912686 1201 9 116131873 116131873 A C intronic BSPRY NA NA NA intronic ENSG00000119411 NA NA NA Score=321;Name=lod=27 NA 9q32 NA NA NA NA rs3827661 0.17 0.17 0.159 0.152756 0.1262 0.2798 0.2334 0.0741 0.0982 0.11 0.3 0.25 0.07 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 0.942026 NA NA 0.130419 0.069176 NA 0.225 NA 4.591181 1201 5 149636109 149636109 G A intronic CAMK2A NA NA NA intronic ENSG00000070808 NA NA NA NA NA 5q32 NA Name=CTCF_(SC-5916),CTCF,ZBTB7A_(SC-34508),Rad21 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 1201 1 247654498 247654498 G A exonic OR2W5 NA synonymous SNV OR2W5:NM_001004698:exon1:c.G69A:p.L23L ncRNA_exonic ENSG00000203664 NA NA NA NA NA 1q44 NA NA NA NA rs61070846 0.15 0.15 0.123 0.129193 0.1909 0.0288 0.2176 0.1483 0.0808 0.19 0.03 0.22 0.16 0.1755 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.222286 NA NA 0.210465 0.146845 NA 0.174 NA 4.5898016 1201 15 40684232 40684232 G A intronic KNSTRN NA NA NA intronic ENSG00000128944 NA NA NA Score=540;Name=lod=209 NA 15q15.1 NA NA NA NA rs72733427 0.09 0.09 0.076 0.0822684 0.1431 0.0129 0.085 0.0711 0.1043 0.17 0.01 0.09 0.07 0.1234 0.17 NA NA 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 0.144177 0.07425 NA 0.13 NA 4.589323 1201 2 178769917 178769917 G A intronic PDE11A NA NA NA intronic ENSG00000128655 NA NA NA NA NA 2q31.2 Score=840;Name=V$OCT1_01 NA NA NA rs13012088 0.07 0.07 0.058 0.0599042 0.1362 0.0139 0.0735 0.0061 0.092 0.15 0.02 0.08 0.01 0.1192 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.401845 1.401845 NA 0.155349 0.03064 NA 0.036 NA 4.589251 1201 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 1201 2 85662636 85662636 C T intronic SH2D6 NA NA NA intronic ENSG00000152292 NA NA NA NA NA 2p11.2 NA Name=MafK_(ab50322) NA NA rs7589663 0.25 0.25 0.271 0.246605 0.1103 0.2847 0.1369 0.4554 0.1431 0.12 0.3 0.16 0.46 0.1732 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014839 NA NA 0.128023 0.411257 NA 0.239 NA 4.588477 1201 2 28789643 28789643 T C intronic PLB1 NA NA NA intronic ENSG00000163803 NA NA NA NA NA 2p23.2 NA Name=YY1_(C-20),Max,GTF2F1_(RAP-74),SUZ12,CTCF,Pol2,BCL3,HMGN3,TAF1,Pol2-4H8 Name=9 NA rs10186460 0.36 0.36 0.333 0.363618 0.4831 0.2034 0.3357 0.2958 0.5174 0.48 0.25 0.38 0.29 0.4392 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.202065 NA NA 0.489651 0.32138 NA 0.391 NA 4.588049 1201 8 144876159 144876159 G A intronic SCRIB NA NA NA intronic ENSG00000180900 NA NA NA NA NA 8q24.3 NA Name=CTCF,CTCF_(SC-5916),YY1_(C-20),c-Myc,YY1 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 1201 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 1201 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 1201 1 100316589 100316589 A G splicing AGL NA NA NA splicing ENSG00000162688 NA NA NA NA NA 1p21.2 NA NA Name=147 NA rs2307130 0.43 0.43 0.395 0.427117 0.4573 0.5198 0.4726 0.2231 0.544 0.46 0.53 0.47 0.25 0.4687 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.564627 NA NA 0.486628 0.277349 NA 0.384 NA 4.587372 1201 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 1201 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 1201 10 70992949 70992949 T A intronic HKDC1 NA NA NA intronic ENSG00000156510 NA NA NA NA NA 10q22.1 NA NA Name=11 NA rs5030971 0.55 0.55 0.545 0.533946 0.4135 0.7361 0.4539 0.5545 0.4785 0.42 0.77 0.41 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 -0.078553 NA NA NA NA NA 0.5 NA 4.5865 1201 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 1201 16 5083483 5083483 T C exonic NAGPA NA synonymous SNV NAGPA:NM_016256:exon2:c.A333G:p.G111G exonic ENSG00000103174 NA synonymous SNV ENSG00000103174:ENST00000562037:exon1:c.A162G:p.G54G,ENSG00000103174:ENST00000312251:exon2:c.A333G:p.G111G,ENSG00000103174:ENST00000381955:exon2:c.A333G:p.G111G,ENSG00000103174:ENST00000562746:exon2:c.A333G:p.G111G NA NA 16p13.3 NA Name=HA-E2F1 NA NA rs2972272 0.73 0.73 0.704 0.730232 0.6849 0.8274 0.6988 0.6293 0.8354 0.68 0.84 0.72 0.66 0.7102 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 0.678873 NA NA 0.68534 0.677326 NA 0.37 NA 4.5862266 1201 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 1201 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 1201 6 129775470 129775470 T C intronic LAMA2 NA NA NA intronic ENSG00000196569 NA NA NA NA NA 6q22.33 NA Name=JunD NA NA rs2297742 0.17 0.17 0.153 0.172324 0.1282 0.2282 0.219 0.1505 0.1564 0.13 0.24 0.22 0.12 0.166 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.11442 NA NA 0.120581 0.121652 NA 0.116 NA 4.585219 1202 19 20150075 20150075 A G intronic ZNF682 NA NA NA UTR5 ENSG00000197124 ENST00000601100:c.-14983T>C NA NA NA NA 19p12 NA Name=YY1_(C-20),ELF1_(SC-631),GABP,c-Jun,NFKB,Pol2 Name=26 NA rs2286920 0.72 0.72 0.677 0.752995 0.8012 0.5466 0.7939 0.7617 0.8753 0.79 0.52 0.82 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 0.04543 NA NA 0.780641 0.764451 NA 0.79 NA 4.5848257 1202 19 11241915 11241915 A G intronic LDLR NA NA NA intronic ENSG00000130164 NA NA NA NA NA 19p13.2 NA Name=YY1_(C-20),Rad21,PAX5-C20,c-Fos,PU.1,ZNF263,SMC3_(ab9263),Pol2,p300,CTCF,Znf143_(16618-1-AP),CTCF_(SC-5916) 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 1202 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 1202 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 1202 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 1202 10 82040052 82040052 A G exonic MAT1A NA synonymous SNV MAT1A:NM_000429:exon5:c.T426C:p.A142A exonic ENSG00000151224 NA synonymous SNV ENSG00000151224:ENST00000455001:exon4:c.T237C:p.A79A,ENSG00000151224:ENST00000372213:exon5:c.T426C:p.A142A Score=414;Name=lod=64 NA 10q23.1 NA NA NA NA rs1143694 0.83 0.83 0.854 0.863419 0.669 0.9722 0.7968 0.9743 0.8487 0.67 0.97 0.77 0.97 0.7543 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 0.771573 NA NA 0.66 0.921017 NA 0.804 NA 4.5833666 1202 14 104641792 104641792 C T exonic KIF26A NA synonymous SNV KIF26A:NM_015656:exon12:c.C2667T:p.A889A exonic ENSG00000066735 NA synonymous SNV ENSG00000066735:ENST00000315264:exon11:c.C2250T:p.A750A,ENSG00000066735:ENST00000423312:exon12:c.C2667T:p.A889A NA NA 14q32.33 NA NA NA NA rs2487305 0.43 0.43 0.431 0.447883 0.3439 0.3869 0.3228 0.6747 0.3998 0.36 0.34 0.37 0.68 0.4016 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.945493 NA NA 0.337992 0.590563 ID=COSM432716;OCCURENCE=1(breast) 0.616 NA 4.5831746 1202 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 1202 15 75131661 75131661 A G exonic ULK3 NA synonymous SNV ULK3:NM_001099436:exon8:c.T906C:p.A302A exonic ENSG00000140474 NA synonymous SNV ENSG00000140474:ENST00000440863:exon8:c.T906C:p.A302A,ENSG00000140474:ENST00000568667:exon8:c.T939C:p.A313A,ENSG00000140474:ENST00000569437:exon8:c.T906C:p.A302A NA NA 15q24.1 Score=808;Name=V$HEN1_02 NA NA NA rs4886615 0.68 0.68 0.645 0.679313 0.6909 0.7351 0.7133 0.6021 0.6902 0.7 0.71 0.73 0.6 0.6787 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 -0.264635 NA NA 0.714025 0.63299 ID=COSM1129112;OCCURENCE=1(prostate) 0.688 NA 4.5830416 1202 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 1202 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 1202 2 63282567 63282567 G A intronic OTX1 NA NA NA intronic ENSG00000115507 NA NA NA NA NA 2p15 NA NA Name=8 NA rs2162011 0.37 0.37 0.372 0.366813 0.4175 0.1845 0.4323 0.4372 0.3609 0.42 0.21 0.42 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 0.414676 NA NA NA NA NA 0.341 NA 4.5825 1202 16 2903068 2903068 A C UTR3 PRSS22 NM_022119:c.*26T>G NA NA UTR3 ENSG00000005001 ENST00000161006:c.*26T>G,ENST00000571228:c.*26T>G NA NA NA NA 16p13.3 NA NA Name=3 NA rs113609771 0.13 0.13 0.151 0.0948482 0.2932 0.001 0.1671 0.0151 0.044 0.28 0.0017 0.15 0.02 0.233 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521471 NA NA 0.225245 0.042886 NA 0.014 NA 4.5818884 1202 19 55494881 55494881 C G exonic NLRP2 NA synonymous SNV NLRP2:NM_001174082:exon5:c.C1749G:p.L583L,NLRP2:NM_001174081:exon6:c.C1815G:p.L605L,NLRP2:NM_017852:exon6:c.C1815G:p.L605L,NLRP2:NM_001174083:exon7:c.C1746G:p.L582L exonic ENSG00000022556 NA synonymous SNV ENSG00000022556:ENST00000339757:exon5:c.C1749G:p.L583L,ENSG00000022556:ENST00000391721:exon5:c.C1743G:p.L581L,ENSG00000022556:ENST00000537859:exon5:c.C1749G:p.L583L,ENSG00000022556:ENST00000538819:exon5:c.C1743G:p.L581L,ENSG00000022556:ENST00000263437:exon6:c.C1806G:p.L602L,ENSG00000022556:ENST00000448584:exon6:c.C1815G:p.L605L,ENSG00000022556:ENST00000543010:exon6:c.C1815G:p.L605L,ENSG00000022556:ENST00000427260:exon7:c.C1746G:p.L582L NA NA 19q13.42 NA NA NA NA rs11672113 0.29 0.29 0.255 0.271965 0.3827 0.2302 0.4135 0.1558 0.2577 0.38 0.22 0.45 0.14 0.3286 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431864 NA NA 0.374419 0.192465 NA 0.312 NA 4.5809476 1202 12 48539482 48539482 T G exonic PFKM NA synonymous SNV PFKM:NM_001166688:exon22:c.T2334G:p.A778A,PFKM:NM_000289:exon23:c.T2334G:p.A778A,PFKM:NM_001166687:exon23:c.T2334G:p.A778A,PFKM:NM_001166686:exon25:c.T2547G:p.A849A exonic ENSG00000152556 NA synonymous SNV ENSG00000152556:ENST00000395233:exon22:c.T2241G:p.A747A,ENSG00000152556:ENST00000547587:exon22:c.T2334G:p.A778A,ENSG00000152556:ENST00000551804:exon22:c.T2241G:p.A747A,ENSG00000152556:ENST00000312352:exon23:c.T2334G:p.A778A,ENSG00000152556:ENST00000359794:exon23:c.T2334G:p.A778A,ENSG00000152556:ENST00000340802:exon25:c.T2547G:p.A849A NA NA 12q13.11 NA NA NA NA rs8716 0.2 0.2 0.175 0.204273 0.3877 0.0139 0.2089 0.1051 0.3425 0.4 0.01 0.22 0.1 0.3204 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.463377 NA NA 0.377791 0.125965 NA 0.29 NA 4.5807756 1202 2 32865521 32865521 G C intronic TTC27 NA NA NA intronic ENSG00000018699 NA NA NA NA Name=Hippocampal atrophy 2p22.3 NA NA NA NA rs1031261 0.16 0.16 0.16 0.20028 0.1223 0.2897 0.1268 0.0991 0.3773 0.13 0.29 0.13 0.09 0.1746 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.592564 NA NA 0.122442 0.114163 NA 0.109 NA 4.580658 1202 2 127819777 127819777 C T intronic BIN1 NA NA NA intronic ENSG00000136717 NA NA NA NA NA 2q14.3 Score=706;Name=V$NRSF_01 NA NA NA rs61748157 0.08 0.08 0.066 0.0972444 0.1352 0.0159 0.0778 0.0582 0.2086 0.13 0.01 0.1 0.05 0.158 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066618 NA NA 0.126163 0.065168 NA 0.051 NA 4.580637 1202 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 1202 19 50436371 50436371 G A ncRNA_exonic MIR4751 NA NA NA ncRNA_exonic ENSG00000265438 NA NA NA NA NA 19q13.33 NA Name=CCNT2,Pol2-4H8,Pol2 NA NA rs8667 0.33 0.33 0.271 0.285144 0.3757 0.3978 0.3429 0.1634 0.1994 0.38 0.42 0.33 0.14 0.3822 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540788 NA NA 0.329225 0.175105 NA 0.333 NA 4.5795416 1202 11 76637680 76637680 G A exonic ACER3 NA synonymous SNV ACER3:NM_018367:exon2:c.G183A:p.K61K exonic ENSG00000078124 NA synonymous SNV ENSG00000078124:ENST00000278544:exon2:c.G183A:p.K61K,ENSG00000078124:ENST00000525861:exon2:c.G183A:p.K61K,ENSG00000078124:ENST00000531461:exon2:c.G183A:p.K61K,ENSG00000078124:ENST00000532485:exon2:c.G183A:p.K61K,ENSG00000078124:ENST00000534206:exon2:c.G57A:p.K19K,ENSG00000078124:ENST00000538157:exon3:c.G57A:p.K19K Score=528;Name=lod=186 NA 11q13.5 NA NA NA NA rs4479014 0.53 0.53 0.521 0.503794 0.7127 0.5903 0.4726 0.1876 0.6493 0.72 0.61 0.47 0.2 0.6425 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 1.235218 1.235218 NA 0.732992 0.289545 NA 0.507 NA 4.5784746 1202 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 1202 1 54258880 54258880 C T intronic TMEM48 NA NA NA intronic ENSG00000058804 NA NA NA NA NA 1p32.3 NA Name=GATA3_(SC-268) NA NA rs2273139 0.1 0.1 0.088 0.086861 0.1441 0.0972 0.0778 0.0598 0.0603 0.14 0.08 0.08 0.07 0.1279 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068843 NA NA 0.149767 0.070132 ID=COSN163090;OCCURENCE=1(breast) 0.087 NA 4.578233 1202 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 1202 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 1202 19 58003580 58003580 A G splicing ZNF419 NM_001098493:exon3:c.259+1A>G,NM_001098492:exon3:c.262+1A>G,NM_001098491:exon4:c.301+1A>G,NM_024691:exon4:c.298+1A>G NA NA exonic;splicing ENSG00000105136;ENSG00000105136 ENST00000354197:exon3:c.262+1A>G,ENST00000426954:exon3:c.262+1A>G,ENST00000442920:exon3:c.259+1A>G,ENST00000424930:exon4:c.301+1A>G,ENST00000221735:exon4:c.298+1A>G nonsynonymous SNV ENSG00000105136:ENST00000520540:exon3:c.A263G:p.D88G,ENSG00000105136:ENST00000518999:exon4:c.A302G:p.D101G NA NA 19q13.43 NA NA NA NA rs2074071 0.68 0.68 0.668 0.695487 0.6839 0.6984 0.7262 0.5787 0.8405 0.68 0.72 0.71 0.59 0.7113 0.72 . . . . . . . . 0.999 P . . 5.66 T -1.202 T 0.000 T 0.05 0.063 4.342 0.994 0.023 0.110 4.442 0.062814 NA NA 0.694419 0.595098 NA 0.703 NA 4.5770477 1202 19 46443739 46443739 T G exonic NOVA2 NA synonymous SNV NOVA2:NM_002516:exon4:c.A861C:p.A287A exonic ENSG00000104967 NA synonymous SNV ENSG00000104967:ENST00000263257:exon4:c.A861C:p.A287A Score=606;Name=lod=388 NA 19q13.32 NA NA NA NA rs28742045 0.72 0.72 0.688 0.735024 0.7018 0.7937 0.5764 0.8003 0.7331 0.7 0.8 0.58 0.77 0.6986 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 1.233308 1.233308 NA 0.689492 0.798928 NA NA NA 4.5767746 1202 8 101253184 101253184 G A exonic SPAG1 NA synonymous SNV SPAG1:NM_003114:exon19:c.G2715A:p.S905S,SPAG1:NM_172218:exon19:c.G2715A:p.S905S exonic ENSG00000104450 NA synonymous SNV ENSG00000104450:ENST00000251809:exon19:c.G2715A:p.S905S,ENSG00000104450:ENST00000388798:exon19:c.G2715A:p.S905S NA NA 8q22.2 NA NA NA NA rs1788190 0.33 0.33 0.324 0.299121 0.3688 0.5149 0.3991 0.028 0.3006 0.37 0.5 0.4 0.04 0.3542 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.503517 NA NA 0.367791 0.085338 NA 0.275 NA 4.5758756 1202 1 39748921 39748921 G A exonic MACF1 NA synonymous SNV MACF1:NM_012090:exon9:c.G771A:p.Q257Q exonic ENSG00000127603 NA synonymous SNV ENSG00000127603:ENST00000496804:exon3:c.G1251A:p.Q417Q,ENSG00000127603:ENST00000530262:exon3:c.G1218A:p.Q406Q,ENSG00000127603:ENST00000317713:exon7:c.G771A:p.Q257Q,ENSG00000127603:ENST00000361689:exon7:c.G771A:p.Q257Q,ENSG00000127603:ENST00000372915:exon7:c.G771A:p.Q257Q,ENSG00000127603:ENST00000524432:exon7:c.G645A:p.Q215Q,ENSG00000127603:ENST00000539005:exon7:c.G771A:p.Q257Q,ENSG00000127603:ENST00000545844:exon8:c.G771A:p.Q257Q,ENSG00000127603:ENST00000564288:exon8:c.G756A:p.Q252Q,ENSG00000127603:ENST00000567887:exon8:c.G867A:p.Q289Q Score=616;Name=lod=425 NA 1p34.3 NA NA NA NA rs2275188 0.6 0.6 0.559 0.59405 0.7167 0.6498 0.6657 0.2685 0.7996 0.73 0.66 0.67 0.26 0.6818 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 0.864354 NA NA 0.692442 0.354063 NA 0.572 NA 4.5757246 1202 6 46834685 46834685 G A exonic GPR116 NA nonsynonymous SNV GPR116:NM_001098518:exon13:c.C1811T:p.T604M,GPR116:NM_015234:exon13:c.C1811T:p.T604M exonic ENSG00000069122 NA nonsynonymous SNV ENSG00000069122:ENST00000545669:exon3:c.C98T:p.T33M,ENSG00000069122:ENST00000456426:exon11:c.C1385T:p.T462M,ENSG00000069122:ENST00000265417:exon13:c.C1811T:p.T604M,ENSG00000069122:ENST00000283296:exon13:c.C1811T:p.T604M,ENSG00000069122:ENST00000362015:exon13:c.C1811T:p.T604M NA NA 6p12.3 NA NA NA NA rs586024 0.86 0.86 0.851 0.841254 0.9225 0.9921 0.9078 0.556 0.9407 0.93 0.99 0.9 0.59 0.9034 0.99 0.29 T 0.177 B 0.008 B 0.546 N 1.000 P 0 N 2.13 T -0.984 T 0.011 T 0.052 -0.626 1.224 1.68 -0.104 -0.299 8.232 -0.625942 NA 0.24 0.931977 0.597821 NA 0.746 NA 4.5754564 1202 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 1202 3 119886776 119886776 T A exonic GPR156 NA nonsynonymous SNV GPR156:NM_001168271:exon9:c.A1536T:p.E512D,GPR156:NM_153002:exon9:c.A1548T:p.E516D exonic ENSG00000175697 NA nonsynonymous SNV ENSG00000175697:ENST00000315843:exon9:c.A1548T:p.E516D,ENSG00000175697:ENST00000461057:exon9:c.A1536T:p.E512D,ENSG00000175697:ENST00000464295:exon10:c.A1548T:p.E516D NA NA 3q13.33 NA NA NA NA rs902790 0.92 0.92 0.915 0.901957 0.9284 0.9306 0.9265 0.8812 0.8558 0.92 0.94 0.91 0.88 0.913 0.94 . . 0.0 B 0.0 B 0.071 N 1.000 P -0.695 N 2.02 T -0.989 T 0.000 T 0.017 -0.073 3.642 0.369 -0.314 -0.609 0.406 -0.073349 NA 0.88 0.916628 0.87744 NA 0.92 NA 4.5753054 1202 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 1203 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 1203 19 17435884 17435884 T C exonic ANO8 NA synonymous SNV ANO8:NM_020959:exon17:c.A2973G:p.S991S exonic ENSG00000074855 NA synonymous SNV ENSG00000074855:ENST00000159087:exon17:c.A2973G:p.S991S NA NA 19p13.11 NA NA Name=2 NA rs755123 0.59 0.59 0.6 0.61881 0.7227 0.2897 0.4885 0.8578 0.6207 0.73 0.23 0.53 0.84 0.6636 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 -1.356938 NA NA 0.706279 0.842488 NA 0.696 NA 4.5740876 1203 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 1203 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 1203 11 7660921 7660921 C T intronic PPFIBP2 NA NA NA intronic ENSG00000166387 NA NA NA NA NA 11p15.4 NA NA Name=7 NA rs11041491 0.22 0.22 0.238 0.198482 0.1352 0.4464 0.1196 0.1505 0.1288 0.13 0.48 0.11 0.15 0.1597 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.847544 NA NA 0.131634 0.139028 NA 0.232 NA 4.573466 1203 17 18702220 18702220 T C exonic TVP23B NA synonymous SNV TVP23B:NM_016078:exon5:c.T426C:p.A142A exonic ENSG00000171928 NA synonymous SNV ENSG00000171928:ENST00000307767:exon5:c.T426C:p.A142A,ENSG00000171928:ENST00000476139:exon5:c.T234C:p.A78A,ENSG00000171928:ENST00000574226:exon5:c.T426C:p.A142A,ENSG00000171928:ENST00000575261:exon5:c.T234C:p.A78A,ENSG00000171928:ENST00000581733:exon5:c.T234C:p.A78A Score=528;Name=lod=187 NA 17p11.2 NA NA NA NA rs8080471 0.71 0.71 0.686 0.677516 0.7028 0.8284 0.7421 0.6165 0.5327 0.71 0.82 0.72 0.6 0.6925 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 -0.105832 NA NA 0.697907 0.628915 NA 0.717 NA 4.5734596 1203 3 186006566 186006566 T C exonic DGKG NA synonymous SNV DGKG:NM_001080744:exon6:c.A477G:p.V159V,DGKG:NM_001080745:exon6:c.A477G:p.V159V,DGKG:NM_001346:exon6:c.A477G:p.V159V exonic ENSG00000058866 NA synonymous SNV ENSG00000058866:ENST00000265022:exon6:c.A477G:p.V159V,ENSG00000058866:ENST00000344484:exon6:c.A477G:p.V159V,ENSG00000058866:ENST00000382164:exon6:c.A477G:p.V159V,ENSG00000058866:ENST00000544847:exon6:c.A477G:p.V159V Score=462;Name=lod=101 NA 3q27.3 NA NA NA NA rs710443 0.69 0.69 0.672 0.695887 0.6978 0.7103 0.6974 0.6936 0.681 0.7 0.71 0.67 0.67 0.7081 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388298 NA NA 0.687907 0.689741 NA 0.652 NA 4.5728596 1203 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 1203 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 1203 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 1203 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 1203 15 52901977 52901977 G A exonic FAM214A NA synonymous SNV FAM214A:NM_019600:exon6:c.C1134T:p.A378A exonic ENSG00000047346 NA synonymous SNV ENSG00000047346:ENST00000399202:exon5:c.C870T:p.A290A,ENSG00000047346:ENST00000546305:exon5:c.C1155T:p.A385A,ENSG00000047346:ENST00000261844:exon6:c.C1134T:p.A378A,ENSG00000047346:ENST00000534964:exon6:c.C1134T:p.A378A Score=593;Name=lod=344 NA 15q21.3 NA NA NA NA rs2414166 0.45 0.45 0.405 0.417133 0.7445 0.1081 0.6095 0.202 0.5532 0.75 0.12 0.62 0.23 0.6195 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 0.381409 NA NA 0.731427 0.307314 ID=COSM147916;OCCURENCE=1(stomach) 0.493 NA 4.5712396 1203 18 5891637 5891637 C A exonic TMEM200C NA synonymous SNV TMEM200C:NM_001080209:exon1:c.G426T:p.P142P exonic ENSG00000206432 NA synonymous SNV ENSG00000206432:ENST00000383490:exon1:c.G426T:p.P142P,ENSG00000206432:ENST00000581347:exon3:c.G426T:p.P142P NA NA 18p11.31 NA NA NA NA rs28656885 0.35 0.35 0.373 0.340256 0.3598 0.2986 0.3444 0.4319 0.2362 0.36 0.31 0.33 0.41 0.354 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.787439 NA NA 0.38176 0.42766 NA 0.297 NA 4.5711066 1203 4 6304087 6304087 A G exonic WFS1 NA synonymous SNV WFS1:NM_001145853:exon8:c.A2565G:p.S855S,WFS1:NM_006005:exon8:c.A2565G:p.S855S exonic ENSG00000109501 NA synonymous SNV ENSG00000109501:ENST00000226760:exon8:c.A2565G:p.S855S,ENSG00000109501:ENST00000503569:exon8:c.A2565G:p.S855S NA NA 4p16.1 NA NA NA NA rs1046316 0.78 0.78 0.772 0.779952 0.6859 0.9038 0.7478 0.7806 0.771 0.68 0.94 0.74 0.78 0.7228 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 -1.882024 NA NA 0.686977 0.7601 ID=COSM448013;OCCURENCE=2(breast) 0.739 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000038660.4;CLNDSDB=.;CLNDSDBID=. 4.5709896 1203 19 50965272 50965272 T C exonic MYBPC2 NA synonymous SNV MYBPC2:NM_004533:exon26:c.T3207C:p.C1069C exonic ENSG00000086967 NA synonymous SNV ENSG00000086967:ENST00000357701:exon26:c.T3207C:p.C1069C NA NA 19q13.33 Score=743;Name=V$PPARG_01 NA NA NA rs25668 0.76 0.76 0.747 0.794129 0.6789 0.7054 0.7824 0.9667 0.7791 0.68 0.71 0.75 0.97 0.7453 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 0.165782 NA NA 0.671528 0.914634 NA 0.804 NA 4.5709386 1203 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 1203 17 45887951 45887951 G T intronic OSBPL7 NA NA NA intronic ENSG00000006025 NA NA NA NA NA 17q21.32 NA Name=GATA-1,EBF,NRSF,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 1203 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 1203 4 5570221 5570221 G A exonic EVC2 NA synonymous SNV EVC2:NM_001166136:exon20:c.C3267T:p.H1089H,EVC2:NM_147127:exon20:c.C3507T:p.H1169H exonic ENSG00000173040 NA synonymous SNV ENSG00000173040:ENST00000310917:exon20:c.C3267T:p.H1089H,ENSG00000173040:ENST00000344408:exon20:c.C3507T:p.H1169H,ENSG00000173040:ENST00000344938:exon20:c.C3507T:p.H1169H,ENSG00000173040:ENST00000475313:exon20:c.C3267T:p.H1089H NA NA 4p16.2 NA NA NA NA rs12511039 0.43 0.43 0.405 0.440895 0.3111 0.876 0.3703 0.1566 0.5603 0.31 0.87 0.36 0.17 0.4847 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 -1.353813 NA NA 0.300535 0.17015 ID=COSM330193;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.261 NA 4.5703316 1203 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 1203 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 1203 19 17531450 17531450 G A intronic MVB12A NA NA NA ncRNA_intronic ENSG00000269481 NA NA NA NA NA 19p13.11 NA Name=Rad21,ZBTB7A_(SC-34508),Egr-1,SMC3_(ab9263),ZNF263,Pol2,E2F6,E2F6_(H-50),CTCF,Pol2-4H8,CTCF_(SC-5916),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 1203 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 1203 16 11002904 11002904 G A exonic CIITA NA synonymous SNV CIITA:NM_000246:exon12:c.G2676A:p.T892T exonic ENSG00000179583 NA synonymous SNV ENSG00000179583:ENST00000381835:exon10:c.G924A:p.T308T,ENSG00000179583:ENST00000324288:exon12:c.G2676A:p.T892T NA NA 16p13.13 Score=777;Name=V$PAX5_02 NA NA NA rs2228238 0.68 0.68 0.66 0.663139 0.7137 0.8671 0.5504 0.472 0.7393 0.71 0.86 0.6 0.48 0.684 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 -1.010969 NA NA 0.69907 0.508648 NA 0.63 NA 4.5698966 1203 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 1203 12 54796757 54796757 C T intronic ITGA5 NA NA NA ncRNA_intronic ENSG00000258086,ENSG00000258137 NA NA NA Score=467;Name=lod=105 NA 12q13.13 NA NA NA NA rs7306692 0.14 0.14 0.111 0.0964457 0.2913 NA 0.1686 0.0166 0.0521 0.3 NA 0.19 0.03 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 3.133729 3.133729 NA 0.278023 0.053109 NA 0.072 NA 4.5691103 1203 6 33037412 33037412 G C intronic HLA-DPA1 NA NA NA intronic ENSG00000231389 NA NA NA NA NA 6p21.32 NA Name=CTCF NA NA rs114707319 NA NA NA 0.439097 0.1879 0.6796 0.2853 0.5809 0.3671 NA NA NA NA 0.2433 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.21566 NA NA NA NA NA NA NA 4.5688 1203 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 1203 9 117568049 117568049 C A intronic TNFSF15 NA NA NA intronic ENSG00000181634 NA NA NA NA NA 9q32 NA Name=ERalpha_a,ZNF263,Pol2 Name=88 NA rs7030574 0.32 0.32 0.294 0.307109 0.495 0.0685 0.3646 0.2315 0.4213 0.51 0.06 0.42 0.24 0.4299 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147785 NA NA 0.506629 0.27054 NA 0.384 NA 4.568471 1203 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=TBP,CCNT2,c-Fos,NF-YB,ZBTB7A_(SC-34508),Sin3Ak-20,SIX5,SREBP1,Max,c-Myc,Oct-2,Nrf1,SP1,IRF1,HEY1,NF-YA,ELF1_(SC-631),ETS1,Pbx3,RFX5_(N-494),TAF1,Znf143_(16618-1-AP),Pol2-4H8,GABP,SP2_(SC-643),POU2F2,Pol2,USF-1,Pol2(phosphoS2),HA-E2F1,CHD2_(N-1250) 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 1203 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=BCL3,Pol2-4H8 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 1203 2 234590616 234590616 C A exonic UGT1A7 NA synonymous SNV UGT1A7:NM_019077:exon1:c.C33A:p.P11P exonic ENSG00000244122 NA synonymous SNV ENSG00000244122:ENST00000373426:exon1:c.C33A:p.P11P NA NA 2q37.1 NA NA NA NA rs7577677 0.29 0.29 0.288 0.297324 0.3598 0.1964 0.2637 0.2481 0.4274 0.36 0.23 0.31 0.24 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 0.135255 NA NA 0.387442 0.273491 NA 0.399 NA 4.5683246 1203 9 132590431 132590431 C G UTR3 C9orf78 NM_016520:c.*9G>C NA NA UTR3 ENSG00000136819 ENST00000372447:c.*9G>C NA NA NA NA 9q34.11 NA NA Name=3 NA rs732074 0.24 0.24 0.24 0.237819 0.2744 0.2143 0.2147 0.2194 0.2658 0.28 0.22 0.23 0.19 0.2414 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.923033 NA NA 0.249535 0.226509 ID=COSN168679;OCCURENCE=2(large_intestine),3(endometrium) 0.21 NA 4.5679984 1203 3 14563258 14563258 A G exonic GRIP2 NA unknown UNKNOWN ncRNA_exonic ENSG00000144596 NA NA NA Score=452;Name=lod=92 NA 3p25.1 NA NA NA NA rs4234526 0.43 0.43 0.37 0.447484 0.4006 0.5694 0.5231 0.2186 0.6258 0.41 0.58 0.49 0.24 0.459 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.596765 2.596765 NA 0.40616 0.219087 ID=COSM445746;OCCURENCE=1(breast) 0.377 NA 4.5675733 1203 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 1203 19 57088850 57088850 T C exonic ZNF470 NA synonymous SNV ZNF470:NM_001001668:exon6:c.T1053C:p.D351D exonic ENSG00000197016 NA synonymous SNV ENSG00000197016:ENST00000391709:exon5:c.T1053C:p.D351D,ENSG00000197016:ENST00000330619:exon6:c.T1053C:p.D351D NA NA 19q13.43 NA NA NA NA rs3752180 0.33 0.33 0.305 0.290535 0.3867 0.379 0.3401 0.1362 0.274 0.37 0.4 0.38 0.15 0.3408 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.006785 NA NA 0.37186 0.181798 NA 0.261 NA 4.5673066 1203 3 122277172 122277172 G A intronic PARP9 NA NA NA intronic ENSG00000138496 NA NA NA NA NA 3q21.1 Score=929;Name=V$AREB6_01 NA NA NA rs9289199 0.16 0.16 0.175 0.139776 0.1451 0.3274 0.0793 0.0575 0.0951 0.14 0.33 0.1 0.05 0.14 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.002208 NA NA 0.147674 0.065138 NA 0.138 NA 4.567226 1203 9 137711997 137711997 G C exonic COL5A1 NA synonymous SNV COL5A1:NM_000093:exon58:c.G4482C:p.P1494P exonic ENSG00000130635 NA synonymous SNV ENSG00000130635:ENST00000371817:exon58:c.G4482C:p.P1494P NA NA 9q34.3 NA NA NA NA rs2228560 0.39 0.39 0.383 0.408147 0.3439 0.375 0.3256 0.5416 0.3865 0.37 0.37 0.33 0.5 0.375 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.628379 NA NA 0.380581 0.512256 NA 0.464 NA 4.5671856 1203 5 16478200 16478200 G A exonic FAM134B NA synonymous SNV FAM134B:NM_019000:exon5:c.C393T:p.D131D,FAM134B:NM_001034850:exon7:c.C816T:p.D272D exonic ENSG00000154153 NA synonymous SNV ENSG00000154153:ENST00000399793:exon5:c.C393T:p.D131D,ENSG00000154153:ENST00000306320:exon7:c.C816T:p.D272D Score=569;Name=lod=274 NA 5p15.1 NA NA NA NA rs162848 0.68 0.68 0.719 0.677516 0.7356 0.5526 0.598 0.8185 0.6125 0.73 0.54 0.65 0.79 0.6661 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 0.984313 NA NA 0.698354 0.80303 NA 0.761 NA 4.5666126 1203 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 1203 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 1203 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 1203 6 33037082 33037082 A G intronic HLA-DPA1 NA NA NA intronic ENSG00000231389 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs34140193 0.39 0.39 0.036 0.439097 0.1889 0.6796 0.2839 0.5809 0.3671 0.17 0.65 0.25 0.55 0.2442 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.399363 1.399363 NA 0.000739 0.010942 NA NA NA 4.566161 1203 21 28216038 28216038 C A intronic ADAMTS1 NA NA NA intronic ENSG00000154734 NA NA NA NA NA 21q21.3 NA Name=Pol2-4H8,TAF1,CTCF,Pol2,Pol2(phosphoS2),TBP Name=93 NA rs422803 0.66 0.66 0.712 0.688099 0.7376 0.4464 0.4899 0.9297 0.7004 0.74 0.43 0.51 0.92 0.6963 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 0.959556 NA NA NA NA NA 0.63 NA 4.5661 1203 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 1203 22 43606143 43606143 C T exonic SCUBE1 NA synonymous SNV SCUBE1:NM_173050:exon19:c.G2487A:p.A829A exonic ENSG00000159307 NA synonymous SNV ENSG00000159307:ENST00000360835:exon19:c.G2487A:p.A829A Score=473;Name=lod=112 NA 22q13.2 NA NA NA NA rs5759217 0.72 0.72 0.708 0.696486 0.6938 0.9286 0.7608 0.4871 0.6973 0.71 0.91 0.77 0.46 0.7066 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 0.716083 NA NA 0.700698 0.48502 NA 0.667 NA 4.5655686 1203 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 1203 20 33867697 33867697 A G intronic EIF6 NA NA NA ncRNA_intronic ENSG00000261582 NA NA NA NA Name=Freckling 20q11.22 NA Name=Pol2 Name=8 NA rs619865 0.97 0.97 0.96 0.973842 0.9254 0.999 0.9741 0.9977 0.9652 0.92 1 0.98 1 0.9397 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.898813 NA NA 0.90314 0.979346 NA 0.971 NA 4.5650933 1203 12 120794653 120794653 T C intronic MSI1 NA NA NA intronic ENSG00000135097 NA NA NA NA NA 12q24.31 NA Name=ZNF263,eGFP-FOS,ZBTB7A_(SC-34508),Egr-1,eGFP-JunD,FOSL1_(SC-183),THAP1_(SC-98174),c-Myc,eGFP-JunB,CTCF,HDAC2_(SC-6296),Pol2,FOSL2 Name=148 NA rs1179441 0.7 0.7 0.694 0.729034 0.7167 0.5466 0.8055 0.7738 0.8149 0.72 0.53 0.78 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 0.355155 NA NA 0.718232 0.782534 NA 0.746 NA 4.565068 1204 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 1204 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 1204 19 11942771 11942771 G A exonic ZNF440 NA synonymous SNV ZNF440:NM_152357:exon4:c.G780A:p.E260E exonic ENSG00000171295 NA synonymous SNV ENSG00000171295:ENST00000304060:exon4:c.G780A:p.E260E,ENSG00000171295:ENST00000427505:exon4:c.G789A:p.E263E NA NA 19p13.2 NA NA NA NA rs436411 0.33 0.33 0.323 0.335264 0.3638 0.1597 0.3285 0.5272 0.2321 0.38 0.16 0.32 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 -0.585845 NA NA 0.388565 0.505002 NA 0.283 NA 4.5643016 1204 1 21935433 21935433 G T intronic RAP1GAP NA NA NA intronic ENSG00000076864 NA NA NA NA NA 1p36.12 NA Name=eGFP-JunD,MafK_(ab50322),NRSF,MafF_(M8194),TAL1_(SC-12984),IRF1,MafK_(SC-477),Pol2(b),PU.1 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 1204 21 44283718 44283718 G A intronic WDR4 NA NA NA intronic ENSG00000160193 NA NA NA NA NA 21q22.3 NA NA Name=4 NA rs7279435 0.17 0.17 0.176 0.176118 0.1551 0.2599 0.098 0.1203 0.2423 0.14 0.25 0.12 0.13 0.1522 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.073943 NA NA 0.128605 0.110758 NA 0.123 NA 4.564095 1204 1 236721610 236721610 G A exonic HEATR1 NA synonymous SNV HEATR1:NM_018072:exon36:c.C5131T:p.L1711L exonic ENSG00000119285 NA synonymous SNV ENSG00000119285:ENST00000366581:exon35:c.C4888T:p.L1630L,ENSG00000119285:ENST00000366582:exon36:c.C5131T:p.L1711L NA NA 1q43 Score=783;Name=V$STAT5A_02 NA NA NA rs2275688 0.66 0.66 0.655 0.614816 0.7078 0.6538 0.6297 0.6074 0.4785 0.7 0.66 0.64 0.6 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 0.174238 NA NA 0.721744 0.636632 NA 0.703 NA 4.5640226 1204 12 113541904 113541904 C A intronic RASAL1 NA NA NA intronic ENSG00000111344 NA NA NA NA NA 12q24.13 NA Name=CTCF,HA-E2F1,TAF1,CEBPB NA NA rs12427427 0.08 0.08 0.092 0.063099 0.1521 NA 0.0879 0.0348 0.0573 0.16 NA 0.08 0.04 0.1376 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.110798 NA NA 0.146532 0.059118 NA 0.051 NA 4.563768 1204 8 87570665 87570665 A C UTR3 CPNE3 NM_003909:c.*27A>C NA NA UTR3 ENSG00000085719 ENST00000198765:c.*27A>C,ENST00000521271:c.*27A>C NA NA NA NA 8q21.3 NA Name=CTCF,CTCF_(SC-5916),Rad21 Name=80 NA rs1062850 0.42 0.42 0.405 0.404353 0.6233 0.2738 0.3444 0.3056 0.4898 0.63 0.22 0.42 0.35 0.5234 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.150863 2.150863 NA 0.622907 0.382887 NA 0.507 NA 4.5637264 1204 7 100482526 100482526 C G intronic SRRT NA NA NA intronic ENSG00000087087 NA NA NA NA NA 7q22.1 NA Name=Pol2,Pol2-4H8 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 1204 14 88454469 88454469 A T intronic GALC NA NA NA intronic ENSG00000054983 NA NA NA NA NA 14q31.3 NA NA NA NA rs74337989 0.09 0.09 0.063 0.0794728 0.159 0.005 0.1657 0.0174 0.0971 0.17 0.0035 0.15 0.02 0.1245 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.937061 NA NA 0.153141 0.044571 NA 0.065 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078198.1;CLNDSDB=.;CLNDSDBID=. 4.563359 1204 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 1204 14 21945629 21945629 C T intronic TOX4 NA NA NA intronic ENSG00000092203 NA NA NA NA NA 14q11.2 NA NA Name=13 NA rs12878084 0.13 0.13 0.097 0.121206 0.1551 0.0526 0.2464 0.0862 0.1155 0.17 0.05 0.24 0.08 0.1385 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.10616 NA NA 0.143837 0.086927 NA 0.145 NA 4.562563 1204 6 43270151 43270151 C T exonic SLC22A7 NA synonymous SNV SLC22A7:NM_006672:exon7:c.C1269T:p.S423S,SLC22A7:NM_153320:exon7:c.C1275T:p.S425S exonic ENSG00000137204 NA synonymous SNV ENSG00000137204:ENST00000436107:exon2:c.C354T:p.S118S,ENSG00000137204:ENST00000372574:exon7:c.C1269T:p.S423S,ENSG00000137204:ENST00000372589:exon7:c.C1269T:p.S423S,ENSG00000137204:ENST00000372585:exon8:c.C1275T:p.S425S NA NA 6p21.1 NA NA NA NA rs2270860 0.44 0.44 0.435 0.463059 0.3439 0.369 0.3804 0.7156 0.3998 0.35 0.35 0.38 0.72 0.4493 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206645 NA NA 0.31138 0.65713 NA 0.471 NA 4.5620866 1204 1 22852715 22852715 G C exonic ZBTB40 NA synonymous SNV ZBTB40:NM_014870:exon18:c.G3546C:p.P1182P,ZBTB40:NM_001083621:exon19:c.G3546C:p.P1182P exonic ENSG00000184677 NA synonymous SNV ENSG00000184677:ENST00000374651:exon16:c.G3210C:p.P1070P,ENSG00000184677:ENST00000375647:exon18:c.G3546C:p.P1182P,ENSG00000184677:ENST00000404138:exon19:c.G3546C:p.P1182P NA NA 1p36.12 NA NA NA NA rs881646 0.32 0.32 0.294 0.318091 0.3936 0.4692 0.2205 0.1225 0.4182 0.41 0.43 0.22 0.13 0.3422 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.608476 NA NA 0.368837 0.159782 NA 0.283 NA 4.5620296 1204 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 1204 2 96795714 96795714 G A exonic ASTL NA synonymous SNV ASTL:NM_001002036:exon8:c.C723T:p.L241L exonic ENSG00000188886 NA synonymous SNV ENSG00000188886:ENST00000342380:exon8:c.C723T:p.L241L NA NA 2q11.1 NA NA NA NA rs749459 0.42 0.42 0.359 0.378794 0.3569 0.5952 0.4712 0.2784 0.2485 0.37 0.6 0.42 0.26 0.3848 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.151307 NA NA 0.363372 0.295279 NA 0.442 NA 4.5615946 1204 21 43413731 43413731 C T exonic ZBTB21 NA synonymous SNV ZBTB21:NM_020727:exon2:c.G474A:p.A158A,ZBTB21:NM_001098402:exon3:c.G474A:p.A158A,ZBTB21:NM_001098403:exon3:c.G474A:p.A158A exonic ENSG00000173276 NA synonymous SNV ENSG00000173276:ENST00000398511:exon2:c.G474A:p.A158A,ENSG00000173276:ENST00000310826:exon3:c.G474A:p.A158A,ENSG00000173276:ENST00000398505:exon3:c.G474A:p.A158A,ENSG00000173276:ENST00000398499:exon4:c.G474A:p.A158A Score=295;Name=lod=21 NA 21q22.3 NA NA NA NA rs915837 0.68 0.68 0.698 0.691893 0.7217 0.6637 0.5086 0.7201 0.7822 0.72 0.66 0.56 0.71 0.675 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.627918 2.627918 NA 0.70907 0.71675 NA 0.645 NA 4.5608966 1204 6 33660695 33660695 G C intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA Name=EBF1_(C-8),ELF1_(SC-631) 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 1204 6 29634012 29634012 A G exonic MOG NA nonsynonymous SNV MOG:NM_001170418:exon2:c.A172G:p.I58V,MOG:NM_206814:exon2:c.A172G:p.I58V,MOG:NM_001008228:exon3:c.A520G:p.I174V,MOG:NM_001008229:exon3:c.A520G:p.I174V,MOG:NM_002433:exon3:c.A520G:p.I174V,MOG:NM_206809:exon3:c.A520G:p.I174V,MOG:NM_206810:exon3:c.A520G:p.I174V,MOG:NM_206811:exon3:c.A520G:p.I174V,MOG:NM_206812:exon3:c.A520G:p.I174V exonic ENSG00000204655 NA nonsynonymous SNV ENSG00000204655:ENST00000376888:exon2:c.A172G:p.I58V,ENSG00000204655:ENST00000483013:exon2:c.A172G:p.I58V,ENSG00000204655:ENST00000490427:exon2:c.A172G:p.I58V,ENSG00000204655:ENST00000376891:exon3:c.A520G:p.I174V,ENSG00000204655:ENST00000376894:exon3:c.A520G:p.I174V,ENSG00000204655:ENST00000376898:exon3:c.A520G:p.I174V,ENSG00000204655:ENST00000376917:exon3:c.A520G:p.I174V,ENSG00000204655:ENST00000396701:exon3:c.A520G:p.I174V,ENSG00000204655:ENST00000396704:exon3:c.A520G:p.I174V,ENSG00000204655:ENST00000431798:exon3:c.A520G:p.I174V,ENSG00000204655:ENST00000494692:exon3:c.A520G:p.I174V NA NA 6p22.1 NA NA NA NA rs3130253 0.96 0.96 0.958 0.973243 0.9115 0.998 0.9524 0.9977 0.9928 0.91 1 0.95 1 0.9498 1 1 T 0.002 B 0.003 B 0.176 N 1.000 P -0.895 N 3.65 T -0.964 T 0.005 T 0.068 -1.612 0.013 1.68 0.066 -0.336 1.365 -1.61218 NA 1 0.911222 0.981138 NA 0.971 NA 4.5608114 1204 12 49168848 49168848 G C intronic ADCY6 NA NA NA intronic ENSG00000174233 NA NA NA Score=349;Name=lod=35 NA 12q13.12 NA NA NA NA rs3730070 0.18 0.18 0.21 0.198482 0.1252 0.0248 0.1138 0.5129 0.0879 0.13 0.01 0.12 0.52 0.1767 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.976558 2.976558 NA 0.137664 0.431336 NA 0.37 NA 4.560436 1204 19 53085813 53085813 T C exonic ZNF701 NA synonymous SNV ZNF701:NM_018260:exon4:c.T501C:p.A167A,ZNF701:NM_001172655:exon5:c.T699C:p.A233A exonic ENSG00000167562 NA synonymous SNV ENSG00000167562:ENST00000391785:exon4:c.T501C:p.A167A,ENSG00000167562:ENST00000301093:exon5:c.T699C:p.A233A,ENSG00000167562:ENST00000540331:exon5:c.T699C:p.A233A NA NA 19q13.41 NA NA NA NA rs3745101 0.29 0.29 0.285 0.289736 0.3608 0.3681 0.2839 0.0522 0.4611 0.37 0.37 0.3 0.05 0.3538 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096139 NA NA 0.391744 0.09192 NA 0.268 NA 4.5603226 1204 1 10479635 10479635 C G intronic PGD NA NA NA intronic ENSG00000142657 NA NA NA NA NA 1p36.22 NA Name=Pol2 Name=3 NA rs2298570 0.52 0.52 0.533 0.517772 0.4851 0.3383 0.5115 0.7277 0.4571 0.49 0.34 0.53 0.76 0.4756 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 0.285624 NA NA 0.479651 0.658874 ID=COSN162933;OCCURENCE=1(NS) 0.514 NA 4.559649 1204 8 139165068 139165068 C T exonic FAM135B NA synonymous SNV FAM135B:NM_015912:exon13:c.G1650A:p.V550V exonic ENSG00000147724 NA synonymous SNV ENSG00000147724:ENST00000276737:exon13:c.G1650A:p.V550V,ENSG00000147724:ENST00000395297:exon13:c.G1650A:p.V550V NA NA 8q24.23 NA NA NA NA rs3763590 0.39 0.39 0.369 0.364417 0.3757 0.5298 0.4135 0.1566 0.4284 0.39 0.55 0.34 0.24 0.3882 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879344 NA NA 0.343343 0.189805 NA 0.362 NA 4.5594236 1204 8 120613747 120613747 C T intronic ENPP2 NA NA NA intronic ENSG00000136960 NA NA NA NA NA 8q24.12 NA Name=NFKB,PU.1 Name=40 NA rs2289888 0.54 0.54 0.555 0.586861 0.4682 0.5278 0.5202 0.6452 0.7382 0.47 0.54 0.44 0.68 0.5244 0.68 NA NA 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 0.448023 0.607127 NA 0.5 NA 4.559377 1204 3 129279570 129279570 T C intronic PLXND1 NA NA NA intronic ENSG00000004399 NA NA NA NA NA 3q22.1 NA NA Name=74 NA rs2170774 0.22 0.22 0.211 0.233626 0.1402 0.2123 0.2061 0.3321 0.2382 0.13 0.22 0.23 0.34 0.1685 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.049544 NA NA 0.132907 0.282342 ID=COSM149468;OCCURENCE=1(stomach) 0.377 NA 4.558393 1204 8 144941419 144941419 C T exonic EPPK1 NA synonymous SNV EPPK1:NM_031308:exon1:c.G6003A:p.A2001A exonic ENSG00000227184 NA synonymous SNV ENSG00000227184:ENST00000525985:exon2:c.G6003A:p.A2001A NA NA 8q24.3 NA NA NA NA rs12681478 0.23 0.23 0.207 0.212859 0.3708 0.1399 0.33 0.0113 0.3149 0.38 0.13 0.33 0.02 0.3379 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.604385 NA NA 0.400258 0.085535 ID=COSM454169;OCCURENCE=1(breast) 0.261 NA 4.5577086 1204 9 107485062 107485062 G A intergenic OR13D1,NIPSNAP3A dist=27319;dist=24907 NA NA ncRNA_exonic ENSG00000188712 NA NA NA Score=401;Name=lod=57 NA 9q31.1 NA NA NA NA rs62565983 0.25 0.25 0.234 0.21246 0.4423 0.0069 0.3184 0.143 0.2065 0.44 0.01 0.33 0.17 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 1.292196 1.292196 NA NA NA NA 0.283 NA 4.5577 1204 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 1204 12 117701714 117701714 A G exonic NOS1 NA synonymous SNV NOS1:NM_001204213:exon12:c.T1194C:p.I398I,NOS1:NM_001204214:exon12:c.T1194C:p.I398I,NOS1:NM_000620:exon13:c.T2202C:p.I734I,NOS1:NM_001204218:exon13:c.T2202C:p.I734I exonic ENSG00000089250 NA synonymous SNV ENSG00000089250:ENST00000338101:exon12:c.T2202C:p.I734I,ENSG00000089250:ENST00000317775:exon13:c.T2202C:p.I734I Score=583;Name=lod=311 NA 12q24.22 NA NA NA NA rs2293054 0.74 0.74 0.788 0.748802 0.6899 0.7629 0.5346 0.9039 0.7372 0.68 0.78 0.57 0.9 0.706 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 1.166574 NA NA 0.713407 0.890467 NA 0.464 NA 4.5573596 1204 1 19202926 19202926 T C exonic ALDH4A1 NA synonymous SNV ALDH4A1:NM_001161504:exon12:c.A1041G:p.A347A,ALDH4A1:NM_003748:exon12:c.A1221G:p.A407A,ALDH4A1:NM_170726:exon12:c.A1221G:p.A407A exonic ENSG00000159423 NA synonymous SNV ENSG00000159423:ENST00000290597:exon12:c.A1221G:p.A407A,ENSG00000159423:ENST00000375341:exon12:c.A1221G:p.A407A,ENSG00000159423:ENST00000538309:exon12:c.A1041G:p.A347A Score=497;Name=lod=139 NA 1p36.13 NA NA NA NA rs2230706 0.66 0.66 0.585 0.660144 0.7117 0.7044 0.768 0.4728 0.7382 0.7 0.71 0.73 0.48 0.7061 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 1.602523 1.602523 NA 0.69186 0.483651 ID=COSM1337328,COSM1337327;OCCURENCE=1(large_intestine) 0.659 NA 4.5570066 1204 3 139257603 139257603 A G intronic RBP1 NA NA NA exonic ENSG00000114115 NA nonsynonymous SNV ENSG00000114115:ENST00000487424:exon2:c.T428C:p.L143P NA NA 3q23 NA NA NA NA rs2071387 0.28 0.28 0.265 0.290535 0.1909 0.2153 0.3703 0.4652 0.1779 0.18 0.19 0.36 0.46 0.2351 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.528426 1.528426 NA 0.184186 0.435542 NA 0.348 NA 4.5564807 1204 15 59963488 59963488 A G exonic BNIP2 NA synonymous SNV BNIP2:NM_004330:exon7:c.T964C:p.L322L exonic ENSG00000140299 NA synonymous SNV ENSG00000140299:ENST00000439052:exon3:c.T235C:p.L79L,ENSG00000140299:ENST00000267859:exon7:c.T964C:p.L322L,ENSG00000140299:ENST00000415213:exon7:c.T787C:p.L263L,ENSG00000140299:ENST00000607373:exon7:c.T601C:p.L201L NA NA 15q22.2 NA NA NA NA rs1135148 0.35 0.35 0.318 0.332069 0.3519 0.5615 0.3847 0.1029 0.3476 0.35 0.57 0.36 0.09 0.4173 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.991647 NA NA 0.341694 0.15281 NA 0.319 NA 4.5557726 1204 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 1204 2 231149108 231149108 G A exonic SP140 NA nonsynonymous SNV SP140:NM_007237:exon16:c.G1546A:p.E516K exonic ENSG00000079263 NA nonsynonymous SNV ENSG00000079263:ENST00000350136:exon13:c.G1153A:p.E385K,ENSG00000079263:ENST00000417495:exon13:c.G1204A:p.E402K,ENSG00000079263:ENST00000343805:exon14:c.G1366A:p.E456K,ENSG00000079263:ENST00000486687:exon14:c.G1318A:p.E440K,ENSG00000079263:ENST00000420434:exon15:c.G1465A:p.E489K,ENSG00000079263:ENST00000392045:exon16:c.G1546A:p.E516K NA NA 2q37.1 NA NA NA NA rs4972946 0.96 0.96 0.954 0.973842 0.9185 0.998 0.9597 0.9947 0.9877 0.91 1 0.96 0.99 0.9399 1 1 T 0.0 B 0.001 B . . 1.000 P -1.445 N 1.06 T -0.990 T 0.000 T 0.079 -1.649 0.012 0.407 -0.178 -0.453 4.141 -1.648748 NA 1 0.919927 0.984737 NA 0.971 NA 4.5550064 1205 10 85974381 85974381 A G UTR3 CDHR1 NM_033100:c.*4A>G NA NA UTR3 ENSG00000148600 ENST00000372117:c.*4A>G,ENST00000440770:c.*4A>G NA NA NA NA 10q23.1 NA Name=CTCF,p300 Name=34 NA rs3814212 0.62 0.62 0.631 0.627396 0.6024 0.4117 0.6412 0.9228 0.4663 0.6 0.38 0.64 0.93 0.5867 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 0.782701 NA NA 0.589302 0.858602 NA 0.681 NA 4.5549314 1205 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 1205 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,Pol2,HA-E2F1 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 1205 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=c-Myc,Pol2,HA-E2F1 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 1205 16 1265600 1265600 G A intronic CACNA1H NA NA NA intronic ENSG00000196557 NA NA NA NA NA 16p13.3 NA Name=CTCF NA NA rs2235634 0.13 0.13 0.113 0.129393 0.1521 0.2232 0.1023 0.0061 0.1953 0.14 0.25 0.11 0.002 0.1559 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373036 NA NA 0.13782 0.022582 NA 0.159 NA 4.55418 1205 3 187009372 187009372 G A intronic MASP1 NA NA NA intronic ENSG00000127241 NA NA NA NA NA 3q27.3 NA Name=ZNF263,CtBP2 NA NA rs16861896 0.16 0.16 0.174 0.165935 0.1392 0.1171 0.1542 0.2186 0.181 0.13 0.13 0.17 0.25 0.1529 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.209844 NA NA 0.155 0.20926 NA 0.181 NA 4.5529 1205 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 1205 7 107738948 107738948 G A exonic LAMB4 NA synonymous SNV LAMB4:NM_007356:exon11:c.C1260T:p.A420A exonic ENSG00000091128 NA synonymous SNV ENSG00000091128:ENST00000205386:exon11:c.C1260T:p.A420A,ENSG00000091128:ENST00000388780:exon11:c.C1260T:p.A420A,ENSG00000091128:ENST00000388781:exon11:c.C1260T:p.A420A,ENSG00000091128:ENST00000414450:exon11:c.C1260T:p.A420A,ENSG00000091128:ENST00000418464:exon11:c.C1260T:p.A420A NA NA 7q31.1 NA NA NA NA rs451252 0.32 0.32 0.272 0.305711 0.3767 0.2609 0.3689 0.2458 0.3149 0.38 0.26 0.38 0.24 0.3457 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133363 NA NA 0.392326 0.270086 NA 0.464 NA 4.5519406 1205 9 138586966 138586966 G A exonic SOHLH1 NA nonsynonymous SNV SOHLH1:NM_001012415:exon6:c.C805T:p.P269S,SOHLH1:NM_001101677:exon6:c.C805T:p.P269S exonic ENSG00000165643 NA nonsynonymous SNV ENSG00000165643:ENST00000298466:exon6:c.C805T:p.P269S,ENSG00000165643:ENST00000425225:exon6:c.C805T:p.P269S NA NA 9q34.3 NA NA NA NA rs3119932 0.89 0.89 0.875 0.879992 0.9334 0.9712 0.9251 0.702 0.9397 0.94 0.97 0.91 0.68 0.9238 0.97 0.7 T 0.02 B 0.01 B . . 1.000 P -0.46 N 1.53 T -1.030 T 0.000 T 0.065 -0.008 3.973 -1.84 -0.625 -0.114 6.598 -0.007966 NA 0.83 0.924292 0.770245 NA NA NA 4.5518414 1205 8 139164192 139164192 G A exonic FAM135B NA synonymous SNV FAM135B:NM_015912:exon13:c.C2526T:p.P842P exonic ENSG00000147724 NA synonymous SNV ENSG00000147724:ENST00000467365:exon1:c.C456T:p.P152P,ENSG00000147724:ENST00000276737:exon13:c.C2526T:p.P842P,ENSG00000147724:ENST00000395297:exon13:c.C2526T:p.P842P NA NA 8q24.23 NA NA NA NA rs3750306 0.4 0.4 0.365 0.371805 0.3757 0.5298 0.4207 0.1815 0.4274 0.39 0.55 0.35 0.26 0.3897 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.123339 NA NA 0.349884 0.220835 NA 0.333 NA 4.5513826 1205 12 5021984 5021984 T A exonic KCNA1 NA synonymous SNV KCNA1:NM_000217:exon2:c.T1440A:p.T480T exonic ENSG00000111262 NA synonymous SNV ENSG00000111262:ENST00000382545:exon2:c.T1440A:p.T480T NA NA 12p13.32 NA NA NA NA rs4766309 0.83 0.83 0.828 0.820487 0.6928 0.9623 0.7493 0.8903 0.7618 0.7 0.96 0.78 0.93 0.7385 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 0.130818 NA NA 0.684302 0.856105 NA 0.833 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117314.2;CLNDSDB=.;CLNDSDBID=. 4.5510646 1205 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 1205 6 158571501 158571501 G A exonic SERAC1 NA synonymous SNV SERAC1:NM_032861:exon4:c.C249T:p.D83D exonic ENSG00000122335 NA synonymous SNV ENSG00000122335:ENST00000607000:exon3:c.C249T:p.D83D,ENSG00000122335:ENST00000367101:exon4:c.C249T:p.D83D,ENSG00000122335:ENST00000367102:exon4:c.C249T:p.D83D,ENSG00000122335:ENST00000367104:exon4:c.C249T:p.D83D,ENSG00000122335:ENST00000606965:exon4:c.C249T:p.D83D Score=284;Name=lod=19 NA 6q25.3 NA NA NA NA rs6929274 0.73 0.73 0.732 0.713858 0.6948 0.7262 0.8242 0.705 0.6544 0.69 0.76 0.78 0.72 0.7174 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 -0.723113 NA NA 0.70426 0.706857 NA 0.739 NA 4.5502066 1205 11 66834252 66834252 C T exonic RHOD NA synonymous SNV RHOD:NM_014578:exon3:c.C264T:p.D88D exonic ENSG00000173156 NA synonymous SNV ENSG00000173156:ENST00000308831:exon3:c.C264T:p.D88D,ENSG00000173156:ENST00000533360:exon3:c.C264T:p.D88D NA NA 11q13.2 NA NA NA NA rs2282502 0.34 0.34 0.289 0.381789 0.3628 0.4524 0.5115 0.1566 0.5409 0.35 0.44 0.44 0.13 0.3901 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.363487 NA NA 0.363912 0.189091 NA 0.377 NA 4.5498546 1205 17 72248483 72248483 A G exonic TTYH2 NA synonymous SNV TTYH2:NM_052869:exon5:c.A264G:p.A88A,TTYH2:NM_032646:exon11:c.A1227G:p.A409A exonic ENSG00000141540 NA synonymous SNV ENSG00000141540:ENST00000441391:exon5:c.A264G:p.A88A,ENSG00000141540:ENST00000269346:exon11:c.A1227G:p.A409A,ENSG00000141540:ENST00000529107:exon11:c.A1164G:p.A388A NA NA 17q25.1 NA NA NA NA rs4789640 0.33 0.33 0.304 0.358826 0.3608 0.1101 0.2983 0.5582 0.3865 0.37 0.12 0.29 0.57 0.3731 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.539488 NA NA 0.38314 0.499546 ID=COSM148336;OCCURENCE=1(stomach) 0.341 NA 4.5496266 1205 20 61588159 61588159 A G exonic SLC17A9 NA synonymous SNV SLC17A9:NM_022082:exon2:c.A102G:p.T34T exonic ENSG00000101194 NA synonymous SNV ENSG00000101194:ENST00000370351:exon2:c.A102G:p.T34T,ENSG00000101194:ENST00000411611:exon2:c.A162G:p.T54T,ENSG00000101194:ENST00000370349:exon3:c.A84G:p.T28T NA NA 20q13.33 Score=790;Name=V$ARNT_02 NA NA NA rs2245341 0.74 0.74 0.725 0.769968 0.7117 0.746 0.6801 0.8313 0.8354 0.7 0.73 0.69 0.84 0.7238 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 -0.087165 NA NA 0.681657 0.822603 NA 0.797 NA 4.5495096 1205 14 42360633 42360633 T C exonic LRFN5 NA synonymous SNV LRFN5:NM_152447:exon4:c.T1566C:p.S522S exonic ENSG00000165379 NA synonymous SNV ENSG00000165379:ENST00000298119:exon4:c.T1566C:p.S522S Score=729;Name=lod=1221 NA 14q21.1 NA NA NA NA rs6572117 0.69 0.69 0.711 0.705272 0.7117 0.745 0.6398 0.6634 0.7607 0.71 0.72 0.62 0.67 0.6975 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.592515 NA NA 0.708023 0.685202 NA 0.623 NA 4.5494436 1205 6 30890431 30890431 A G intronic VARS2 NA NA NA intronic ENSG00000137411 NA NA NA NA NA 6p21.33 NA Name=CTCF Name=15 NA rs885905 0.69 0.69 0.672 0.70627 0.7137 0.8671 0.696 0.4554 0.8793 0.74 0.84 0.67 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 0.366457 NA NA 0.737569 0.488014 NA 0.761 NA 4.548731 1205 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 1205 12 56435929 56435929 C G UTR5 RPS26 NM_001029:c.-22C>G NA NA UTR5 ENSG00000197728 ENST00000356464:c.-22C>G,ENST00000552361:c.-22C>G NA NA NA NA 12q13.2 NA Name=HA-E2F1,CHD2_(N-1250),Pol2,USF-1,Pol2(phosphoS2),POU2F2,GTF2B,TCF12,p300,TAF7_(SQ-8),Pol2-4H8,TAF1,BCL3,NFKB,GATA-1,HEY1,KAP1,STAT1,NELFe,ETS1,c-Myc,Oct-2,TAL1_(SC-12984),SP1,YY1_(C-20),PAX5-C20,NRSF,THAP1_(SC-98174),Sin3Ak-20,YY1,PU.1,PAX5-N19,Pol2(b),TBP,Egr-1,JunD,ZNF263,GTF2F1_(RAP-74) Name=148 NA rs1131017 0.55 0.55 0.522 0.555911 0.5915 0.7897 0.6902 0.1619 0.7157 0.59 0.74 0.65 0.18 0.6053 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.899787 NA NA 0.587907 0.224921 NA 0.493 NA 4.5486264 1205 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=TAF1,CTCF_(C-20),Pol2,GATA-2,Ini1,CTCF,EBF,NRSF 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 1205 8 6913031 6913031 G A exonic DEFA5 NA synonymous SNV DEFA5:NM_021010:exon2:c.C207T:p.T69T exonic ENSG00000164816 NA synonymous SNV ENSG00000164816:ENST00000330590:exon2:c.C207T:p.T69T NA NA 8p23.1 NA NA NA NA rs2272719 0.31 0.31 0.284 0.293131 0.3598 0.2927 0.428 0.1475 0.3262 0.37 0.29 0.4 0.15 0.3737 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.329417 NA NA 0.385 0.189741 ID=COSM150445;OCCURENCE=1(stomach) 0.275 NA 4.5481666 1205 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 1205 19 54080144 54080144 A G exonic ZNF331 NA synonymous SNV ZNF331:NM_001253801:exon5:c.A330G:p.R110R,ZNF331:NM_001079906:exon6:c.A330G:p.R110R,ZNF331:NM_001079907:exon6:c.A330G:p.R110R,ZNF331:NM_001253799:exon6:c.A330G:p.R110R,ZNF331:NM_001253800:exon6:c.A330G:p.R110R,ZNF331:NM_001253798:exon7:c.A330G:p.R110R,ZNF331:NM_018555:exon7:c.A330G:p.R110R exonic ENSG00000130844 NA synonymous SNV ENSG00000130844:ENST00000449416:exon4:c.A330G:p.R110R,ENSG00000130844:ENST00000511154:exon5:c.A330G:p.R110R,ENSG00000130844:ENST00000512387:exon5:c.A330G:p.R110R,ENSG00000130844:ENST00000514022:exon5:c.A330G:p.R110R,ENSG00000130844:ENST00000411977:exon6:c.A330G:p.R110R,ENSG00000130844:ENST00000505949:exon6:c.A330G:p.R110R,ENSG00000130844:ENST00000513999:exon6:c.A330G:p.R110R,ENSG00000130844:ENST00000253144:exon7:c.A330G:p.R110R,ENSG00000130844:ENST00000511593:exon7:c.A330G:p.R110R NA NA 19q13.42 NA Name=KAP1 NA NA rs8109631 0.73 0.73 0.77 0.74381 0.6958 0.6954 0.5965 0.9266 0.7004 0.69 0.7 0.59 0.91 0.7094 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 0.120966 NA NA 0.713488 0.886518 ID=COSM148735;OCCURENCE=1(stomach) 0.717 NA 4.5479786 1205 14 96103115 96103115 C T intergenic GLRX5,TCL6 dist=92060;dist=14400 NA NA ncRNA_intronic ENSG00000258927 NA NA NA NA NA 14q32.13 NA Name=Rad21 NA NA rs11160282 0.26 0.26 0.261 0.256989 0.1282 0.4216 0.2089 0.264 0.2444 0.13 0.44 0.22 0.29 0.1947 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525506 NA NA 0.129583 0.249429 NA 0.217 NA 4.547517 1205 13 113740602 113740602 G A intronic MCF2L NA NA NA intronic ENSG00000126217 NA NA NA NA NA 13q34 NA Name=CTCF,Rad21 NA NA rs2873281 0.13 0.13 0.146 0.159944 0.1511 0.005 0.1182 0.2496 0.2372 0.13 0.01 0.14 0.25 0.1485 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121991 NA NA 0.153023 0.216523 NA 0.138 NA 4.547377 1205 11 1220997 1220997 G A intergenic MUC2,MUC5B dist=116580;dist=23298 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=58636;dist=23299 NA NA Score=251;Name=lod=14 NA 11p15.5 NA Name=GR NA NA rs28457780 0.3 0.3 0.261 0.376797 0.2028 0.3462 0.3458 0.4614 0.4949 0.2 0.28 0.3 0.48 0.3877 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518619 NA NA 0.195528 0.381885 NA 0.196 NA 4.5473054 1205 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 1205 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 1205 2 223917629 223917629 C T exonic KCNE4 NA synonymous SNV KCNE4:NM_080671:exon2:c.C234T:p.G78G exonic ENSG00000152049 NA synonymous SNV ENSG00000152049:ENST00000281830:exon2:c.C234T:p.G78G,ENSG00000152049:ENST00000604125:exon2:c.C81T:p.G27G NA NA 2q36.1 NA NA Name=30 NA rs3795886 0.69 0.69 0.642 0.72504 0.7048 0.6458 0.7363 0.7216 0.8241 0.72 0.63 0.74 0.68 0.7145 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.779825 NA NA 0.700233 0.713118 NA 0.587 NA 4.5471336 1205 2 113816942 113816942 A C intronic IL36RN NA NA NA intronic ENSG00000136695 NA NA NA NA NA 2q13 NA Name=GABP,CTCF NA NA rs2278717 0.29 0.29 0.03 0.324481 0.4185 0.1865 0.3429 0.1596 0.5798 0.41 0.18 0.35 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 0.608965 NA NA 0.034569 0.007948 NA NA NA 4.546931 1205 12 69753830 69753830 G A intronic YEATS4 NA NA NA intronic ENSG00000127337 NA NA NA NA NA 12q15 NA Name=ZNF263,Pol2(b),PU.1,HNF4A_(H-171),YY1,RXRA,E2F4,SRF,HNF4G_(SC-6558),NF-YA,HNF4A,ELF1_(SC-631),HEY1,E2F1,GATA-1,TAF1,RFX5_(N-494),GABP,E2F6_(H-50),E2F6,Pol2,HA-E2F1 Name=147 NA rs623853 0.47 0.47 0.436 0.434505 0.494 0.4345 0.4582 0.3926 0.4131 0.5 0.45 0.46 0.47 0.4717 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.064027 NA NA 0.48743 0.416856 NA 0.514 NA 4.54687 1205 3 127410959 127410959 G T UTR3 MGLL NM_001256585:c.*82C>A,NM_007283:c.*82C>A,NM_001003794:c.*82C>A NA NA UTR3 ENSG00000074416 ENST00000434178:c.*82C>A,ENST00000398104:c.*82C>A,ENST00000265052:c.*82C>A,ENST00000496306:c.*82C>A NA NA NA NA 3q21.3 NA Name=GATA-2 NA NA rs814130 NA NA NA 0.71885 0.7873 0.6696 0.6499 0.8154 0.6176 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 0.449164 NA NA NA NA NA 0.377 NA 4.5460334 1205 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 1205 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 1205 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 1205 8 142367559 142367559 G A exonic GPR20 NA synonymous SNV GPR20:NM_005293:exon2:c.C465T:p.P155P exonic ENSG00000204882 NA synonymous SNV ENSG00000204882:ENST00000377741:exon2:c.C465T:p.P155P NA NA 8q24.3 Score=793;Name=V$PAX5_02 NA NA NA rs11785629 0.62 0.62 0.656 0.601238 0.7237 0.5099 0.7277 0.4539 0.6789 0.74 0.54 0.68 0.48 0.7083 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94837 NA NA 0.688881 0.51204 NA 0.536 NA 4.5457856 1206 3 125301711 125301711 C G intronic OSBPL11 NA NA NA intronic ENSG00000144909 NA NA NA NA NA 3q21.2 NA Name=CTCF,CTCF_(C-20),Rad21,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 1206 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 1206 X 3592725 3592725 G A exonic PRKX NA synonymous SNV PRKX:NM_005044:exon2:c.C249T:p.P83P exonic ENSG00000183943 NA synonymous SNV ENSG00000183943:ENST00000262848:exon2:c.C249T:p.P83P NA NA Xp22.33 NA NA NA NA rs10871864 0.48 0.48 0.45231 NA NA NA NA NA NA 0.58 0.36 0.65 0.33 0.5482 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.626037 NA NA 0.574019 0.383051 ID=COSM1467793;OCCURENCE=1(large_intestine) 0.333 NA 4.5444476 1206 17 58013909 58013909 A G intronic RPS6KB1 NA NA NA intronic ENSG00000108443 NA NA NA Score=633;Name=lod=496 NA 17q23.1 NA NA NA NA rs180523 0.11 0.11 0.093 0.10643 0.1561 0.0496 0.1715 0.0825 0.1002 0.15 0.05 0.15 0.09 0.1383 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.172894 NA NA 0.161744 0.108034 NA 0.138 NA 4.543856 1206 5 42700044 42700044 A G exonic GHR NA synonymous SNV GHR:NM_001242460:exon4:c.A492G:p.G164G,GHR:NM_001242406:exon5:c.A558G:p.G186G,GHR:NM_001242461:exon5:c.A558G:p.G186G,GHR:NM_001242462:exon5:c.A558G:p.G186G,GHR:NM_000163:exon6:c.A558G:p.G186G,GHR:NM_001242399:exon6:c.A579G:p.G193G,GHR:NM_001242402:exon6:c.A558G:p.G186G,GHR:NM_001242403:exon6:c.A558G:p.G186G,GHR:NM_001242404:exon6:c.A558G:p.G186G,GHR:NM_001242405:exon6:c.A558G:p.G186G,GHR:NM_001242400:exon7:c.A558G:p.G186G,GHR:NM_001242401:exon7:c.A558G:p.G186G exonic ENSG00000112964 NA synonymous SNV ENSG00000112964:ENST00000357703:exon5:c.A492G:p.G164G,ENSG00000112964:ENST00000230882:exon6:c.A558G:p.G186G Score=558;Name=lod=247 NA 5p12 NA NA NA NA rs6179 0.67 0.67 0.646 0.641573 0.6819 0.8165 0.7651 0.3971 0.6626 0.68 0.85 0.73 0.39 0.7122 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 1.305967 1.305967 NA 0.72907 0.448025 NA 0.601 NA 4.5434966 1206 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 1206 2 189953508 189953508 C T intronic COL5A2 NA NA NA intronic ENSG00000204262 NA NA NA NA NA 2q32.2 NA NA Name=33 NA rs58106884 0.12 0.12 0.118 0.13099 0.167 0.1062 0.1268 0.0885 0.18 0.15 0.11 0.12 0.07 0.1413 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.546751 2.546751 NA 0.148605 0.100091 NA 0.109 NA 4.543095 1206 14 24545366 24545366 T C exonic CPNE6 NA synonymous SNV CPNE6:NM_006032:exon11:c.T933C:p.I311I exonic ENSG00000100884 NA synonymous SNV ENSG00000100884:ENST00000216775:exon11:c.T933C:p.I311I,ENSG00000100884:ENST00000397016:exon12:c.T933C:p.I311I,ENSG00000100884:ENST00000537691:exon12:c.T1098C:p.I366I NA NA 14q11.2 NA NA NA NA rs2070342 0.45 0.45 0.416 0.497604 0.3579 0.4861 0.4337 0.5968 0.5644 0.35 0.48 0.43 0.59 0.4186 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49262 NA NA 0.347209 0.556968 NA 0.399 NA 4.5429576 1206 13 41834744 41834744 C T exonic MTRF1 NA synonymous SNV MTRF1:NM_004294:exon2:c.G300A:p.E100E exonic ENSG00000120662 NA synonymous SNV ENSG00000120662:ENST00000379480:exon2:c.G300A:p.E100E,ENSG00000120662:ENST00000430347:exon3:c.G339A:p.E113E,ENSG00000120662:ENST00000452359:exon3:c.G300A:p.E100E,ENSG00000120662:ENST00000379477:exon4:c.G300A:p.E100E Score=321;Name=lod=27 NA 13q14.11 NA NA NA NA rs2297555 0.67 0.67 0.649 0.673123 0.7117 0.5496 0.7334 0.708 0.6708 0.71 0.55 0.75 0.69 0.7004 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 -0.988002 NA NA 0.711628 0.72946 NA 0.746 NA 4.5429386 1206 4 87754419 87754419 C T intronic SLC10A6 NA NA NA intronic ENSG00000145283 NA NA NA NA Name=Insulin-related traits 4q21.3 NA NA NA NA rs10050311 0.18 0.18 0.16 0.158347 0.1471 0.2788 0.2161 0.0703 0.1237 0.15 0.29 0.23 0.08 0.165 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.489198 NA NA 0.145581 0.086019 NA 0.08 NA 4.542319 1206 6 105219773 105219773 T C intronic HACE1 NA NA NA intronic ENSG00000085382 NA NA NA NA NA 6q16.3 NA NA Name=2 NA rs7741145 0.1 0.1 0.105 0.11242 0.1471 0.003 0.1311 0.1422 0.136 0.14 0.0035 0.14 0.12 0.1477 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025754 NA NA 0.162907 0.146618 NA 0.087 NA 4.542293 1206 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 1206 11 18327684 18327684 G T exonic HPS5 NA synonymous SNV HPS5:NM_007216:exon6:c.C480A:p.L160L,HPS5:NM_181508:exon6:c.C480A:p.L160L,HPS5:NM_181507:exon7:c.C822A:p.L274L exonic ENSG00000110756 NA synonymous SNV ENSG00000110756:ENST00000396253:exon6:c.C480A:p.L160L,ENSG00000110756:ENST00000438420:exon6:c.C480A:p.L160L,ENSG00000110756:ENST00000531848:exon6:c.C480A:p.L160L,ENSG00000110756:ENST00000349215:exon7:c.C822A:p.L274L Score=439;Name=lod=81 NA 11p15.1 NA NA NA NA rs1140047 0.81 0.81 0.812 0.804712 0.7107 0.9722 0.7536 0.7852 0.7914 0.72 0.97 0.72 0.81 0.729 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 1.157803 NA NA 0.684952 0.765575 NA 0.688 NA 4.5420146 1206 14 22934658 22934658 C A intergenic OR4E2,DAD1 dist=800420;dist=99149 NA NA ncRNA_UTR3 ENSG00000211829 NA NA NA NA NA 14q11.2 NA NA Name=31 NA rs11997 0.1 0.1 0.114 0.0978435 0.1541 0.005 0.1167 0.1059 0.1115 0.14 0.01 0.14 0.13 0.1269 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.368831 NA NA 0.177195 0.117663 NA 0.065 NA 4.541805 1206 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 1206 12 2997397 2997397 G A exonic RHNO1 NA synonymous SNV RHNO1:NM_001252499:exon3:c.G489A:p.S163S,RHNO1:NM_001252500:exon3:c.G447A:p.S149S,RHNO1:NM_001257097:exon3:c.G489A:p.S163S,RHNO1:NM_001257098:exon3:c.G489A:p.S163S exonic ENSG00000171792 NA synonymous SNV ENSG00000171792:ENST00000461997:exon3:c.G447A:p.S149S,ENSG00000171792:ENST00000489288:exon3:c.G489A:p.S163S NA NA 12p13.33 NA NA NA NA rs2907608 0.51 0.51 0.49 0.525958 0.3489 0.6458 0.5706 0.5976 0.456 0.34 0.63 0.55 0.61 0.4322 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.870721 NA NA 0.344767 0.550613 NA 0.442 NA 4.5407996 1206 1 63999891 63999891 T C intronic EFCAB7 NA NA NA intronic ENSG00000203965 NA NA NA Score=389;Name=lod=51 NA 1p31.3 NA NA NA NA rs6657559 0.14 0.14 0.124 0.138978 0.1441 0.1855 0.1585 0.0643 0.1728 0.14 0.18 0.17 0.08 0.1619 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214615 NA NA 0.15364 0.076294 NA 0.087 NA 4.54036 1206 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 1206 17 72443192 72443192 G T UTR3 GPRC5C NM_022036:c.*25G>T,NM_018653:c.*25G>T NA NA UTR3 ENSG00000170412 ENST00000392627:c.*25G>T,ENST00000342648:c.*25G>T,ENST00000481232:c.*252G>T NA NA NA NA 17q25.1 NA Name=CTCF Name=33 NA rs2706527 0.85 0.85 NA 0.83127 0.9215 0.8542 0.9063 0.7042 0.8333 0.92 0.85 0.9 0.72 0.8717 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 0.987638 NA NA NA NA NA 0.862 NA 4.5401334 1206 12 2788879 2788879 G A exonic CACNA1C NA synonymous SNV CACNA1C:NM_001129837:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129838:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129839:exon41:c.G5379A:p.T1793T,CACNA1C:NM_001129846:exon41:c.G5328A:p.T1776T,CACNA1C:NM_001167625:exon41:c.G5328A:p.T1776T,CACNA1C:NM_000719:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129829:exon42:c.G5484A:p.T1828T,CACNA1C:NM_001129830:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129833:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129834:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129835:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129836:exon42:c.G5412A:p.T1804T,CACNA1C:NM_001129840:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129841:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129842:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129843:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129844:exon42:c.G5352A:p.T1784T,CACNA1C:NM_001167623:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001167624:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129831:exon43:c.G5445A:p.T1815T,CACNA1C:NM_001129832:exon43:c.G5421A:p.T1807T,CACNA1C:NM_001129827:exon44:c.G5505A:p.T1835T,CACNA1C:NM_199460:exon44:c.G5505A:p.T1835T exonic ENSG00000151067 NA synonymous SNV ENSG00000151067:ENST00000399591:exon41:c.G5385A:p.T1795T,ENSG00000151067:ENST00000399595:exon41:c.G5385A:p.T1795T,ENSG00000151067:ENST00000399649:exon41:c.G5379A:p.T1793T,ENSG00000151067:ENST00000327702:exon42:c.G5361A:p.T1787T,ENSG00000151067:ENST00000344100:exon42:c.G5484A:p.T1828T,ENSG00000151067:ENST00000399597:exon42:c.G5361A:p.T1787T,ENSG00000151067:ENST00000399601:exon42:c.G5361A:p.T1787T,ENSG00000151067:ENST00000399603:exon42:c.G5361A:p.T1787T,ENSG00000151067:ENST00000399617:exon42:c.G5361A:p.T1787T,ENSG00000151067:ENST00000399621:exon42:c.G5418A:p.T1806T,ENSG00000151067:ENST00000399629:exon42:c.G5412A:p.T1804T,ENSG00000151067:ENST00000399634:exon42:c.G5361A:p.T1787T,ENSG00000151067:ENST00000399637:exon42:c.G5418A:p.T1806T,ENSG00000151067:ENST00000399641:exon42:c.G5361A:p.T1787T,ENSG00000151067:ENST00000399644:exon42:c.G5361A:p.T1787T,ENSG00000151067:ENST00000399655:exon42:c.G5361A:p.T1787T,ENSG00000151067:ENST00000402845:exon42:c.G5418A:p.T1806T,ENSG00000151067:ENST00000406454:exon42:c.G5361A:p.T1787T,ENSG00000151067:ENST00000335762:exon43:c.G5436A:p.T1812T,ENSG00000151067:ENST00000399606:exon43:c.G5421A:p.T1807T,ENSG00000151067:ENST00000399638:exon43:c.G5445A:p.T1815T,ENSG00000151067:ENST00000347598:exon44:c.G5505A:p.T1835T NA NA 12p13.33 NA NA NA NA rs1051375 0.57 0.57 0.528 0.526358 0.7038 0.6062 0.6542 0.1717 0.6503 0.73 0.63 0.67 0.18 0.6953 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 -0.694805 NA NA 0.729465 0.275234 NA 0.471 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000079298.1|RCV000124096.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.5381016 1206 18 2705700 2705700 A G exonic SMCHD1 NA synonymous SNV SMCHD1:NM_015295:exon14:c.A1851G:p.T617T exonic ENSG00000101596 NA synonymous SNV ENSG00000101596:ENST00000577880:exon3:c.A264G:p.T88T,ENSG00000101596:ENST00000261598:exon14:c.A1851G:p.T617T,ENSG00000101596:ENST00000320876:exon14:c.A1851G:p.T617T Score=610;Name=lod=403 NA 18p11.32 NA NA NA NA rs635132 0.6 0.6 0.551 0.584665 0.7177 0.7103 0.7277 0.2655 0.6483 0.71 0.69 0.7 0.28 0.6857 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 0.965535 NA NA 0.725172 0.345495 NA 0.529 NA 4.5380946 1206 16 20811681 20811681 C T exonic ERI2 NA synonymous SNV ERI2:NM_001142725:exon6:c.G504A:p.K168K,ERI2:NM_080663:exon6:c.G504A:p.K168K exonic ENSG00000196678 NA synonymous SNV ENSG00000196678:ENST00000300005:exon6:c.G504A:p.K168K,ENSG00000196678:ENST00000357967:exon6:c.G504A:p.K168K,ENSG00000196678:ENST00000569729:exon6:c.G504A:p.K168K,ENSG00000196678:ENST00000563117:exon7:c.G225A:p.K75K,ENSG00000196678:ENST00000564349:exon7:c.G225A:p.K75K Score=619;Name=lod=436 NA 16p12.3 NA NA NA NA rs2301771 0.6 0.6 0.59 0.629792 0.7177 0.4435 0.6326 0.6452 0.7086 0.72 0.39 0.6 0.64 0.6823 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 0.682685 NA NA 0.728721 0.662653 NA 0.601 NA 4.5379456 1206 4 100128753 100128753 T C ncRNA_intronic LOC100507053 NA NA NA ncRNA_intronic ENSG00000246090 NA NA NA NA NA 4q23 NA Name=CEBPB NA NA rs4147545 0.57 0.57 0.563 0.569289 0.3519 0.8819 0.5072 0.5832 0.4959 0.35 0.9 0.46 0.6 0.4363 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 -0.127174 NA NA 0.340581 0.560372 NA 0.493 NA 4.5378856 1206 X 152613112 152613112 C T exonic ZNF275 NA synonymous SNV ZNF275:NM_001080485:exon4:c.C969T:p.C323C exonic ENSG00000063587 NA synonymous SNV ENSG00000063587:ENST00000370249:exon2:c.C810T:p.C270C,ENSG00000063587:ENST00000370251:exon4:c.C969T:p.C323C,ENSG00000063587:ENST00000421401:exon4:c.C969T:p.C323C,ENSG00000063587:ENST00000440091:exon4:c.C1059T:p.C353C NA NA Xq28 NA NA NA NA rs7066295 0.71 0.71 0.6868 NA NA NA NA NA NA 0.51 0.81 0.75 0.85 0.6251 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 -0.652076 NA NA 0.503871 0.793771 ID=COSM457009;OCCURENCE=1(breast) 0.63 NA 4.5376956 1206 1 55085499 55085499 T C intronic ACOT11,FAM151A NA NA NA intronic ENSG00000162390,ENSG00000162391 NA NA NA NA NA 1p32.3 NA Name=USF-1 Name=6 NA rs11206396 0.53 0.53 0.519 0.586661 0.496 0.4931 0.5317 0.6952 0.6687 0.47 0.49 0.53 0.65 0.5185 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 0.309005 NA NA 0.448023 0.659555 ID=COSN163094;OCCURENCE=1(breast) 0.609 NA 4.537477 1206 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 1206 X 47918205 47918205 G A exonic ZNF630 NA synonymous SNV ZNF630:NM_001037735:exon5:c.C1626T:p.P542P,ZNF630:NM_001190255:exon5:c.C1584T:p.P528P exonic ENSG00000221994 NA synonymous SNV ENSG00000221994:ENST00000276054:exon5:c.C1254T:p.P418P,ENSG00000221994:ENST00000409324:exon5:c.C1626T:p.P542P,ENSG00000221994:ENST00000442455:exon5:c.C1584T:p.P528P NA NA Xp11.23 NA NA NA NA rs501128 0.66 0.66 0.65103 NA NA NA NA NA NA 0.53 0.86 0.67 0.63 0.5925 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 -1.798327 NA NA 0.536858 0.567207 NA 0.348 NA 4.5373086 1206 16 28508069 28508069 C T exonic APOBR NA synonymous SNV APOBR:NM_018690:exon2:c.C1707T:p.G569G exonic ENSG00000184730 NA synonymous SNV ENSG00000184730:ENST00000564831:exon2:c.C1707T:p.G569G,ENSG00000184730:ENST00000328423:exon3:c.C1680T:p.G560G,ENSG00000184730:ENST00000431282:exon3:c.C1680T:p.G560G NA NA 16p11.2 NA NA NA NA rs151174 0.25 0.25 0.256 0.238419 0.3469 0.0933 0.4135 0.2156 0.183 0.35 0.11 0.33 0.21 0.3973 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012815 NA NA 0.385474 0.244006 NA 0.188 NA 4.5369926 1206 19 57909872 57909872 G A exonic ZNF548 NA nonsynonymous SNV ZNF548:NM_152909:exon3:c.G217A:p.A73T,ZNF548:NM_001172773:exon4:c.G253A:p.A85T exonic ENSG00000188785,ENSG00000268133 NA nonsynonymous SNV ENSG00000188785:ENST00000366197:exon3:c.G217A:p.A73T,ENSG00000188785:ENST00000336128:exon4:c.G253A:p.A85T,ENSG00000268133:ENST00000597658:exon4:c.G226A:p.A76T,ENSG00000188785:ENST00000600927:exon5:c.G226A:p.A76T NA NA 19q13.43 NA NA NA NA rs4801478 0.89 0.89 0.91 0.910343 0.9334 0.8026 0.889 0.9599 0.9458 0.94 0.8 0.88 0.94 0.9274 0.97 1 T 0.0 B 0.0 B . . 1.000 P -0.97 N 3.5 T -1.020 T 0.000 T 0.004 -1.239 0.055 1.14 0.057 -0.565 6.519 -1.238554 NA 1 0.935718 0.968414 NA 0.928 NA 4.5368154 1206 12 80752660 80752660 A G exonic OTOGL NA nonsynonymous SNV OTOGL:NM_173591:exon51:c.A6220G:p.I2074V exonic ENSG00000165899 NA nonsynonymous SNV ENSG00000165899:ENST00000550182:exon4:c.A271G:p.I91V,ENSG00000165899:ENST00000546620:exon5:c.A277G:p.I93V,ENSG00000165899:ENST00000458043:exon51:c.A6220G:p.I2074V,ENSG00000165899:ENST00000547103:exon51:c.A6184G:p.I2062V NA NA 12q21.31 NA NA NA NA rs2034528 0.96 0.96 0.955 0.964457 0.9324 1 0.9582 0.9766 0.9489 0.94 1 0.96 0.97 0.94 1 1 T 0.0 B 0.0 B 0.353 N 1.000 P -0.69 N 2.46 T -0.957 T 0.000 T 0.101 -1.234 0.057 0.351 -0.116 0.494 10.109 -1.234069 NA 1 0.924196 0.958525 NA 0.993 NA 4.5367374 1206 13 101736075 101736075 A G exonic NALCN NA synonymous SNV NALCN:NM_052867:exon31:c.T3570C:p.L1190L exonic ENSG00000102452 NA synonymous SNV ENSG00000102452:ENST00000251127:exon31:c.T3570C:p.L1190L Score=736;Name=lod=1310 NA 13q33.1 NA NA NA NA rs686141 0.7 0.7 0.736 0.724641 0.7117 0.622 0.5418 0.882 0.7607 0.72 0.6 0.57 0.88 0.6992 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 0.85744 NA NA 0.719186 0.842488 NA 0.761 NA 4.5365806 1206 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=HA-E2F1,USF-1,FOXA1_(C-20),Pol2,HDAC2_(SC-6296),Pol2-4H8,NFKB,TAF1,RFX5_(N-494),HNF4G_(SC-6558),ELF1_(SC-631),HEY1,Nrf1,c-Myc,YY1_(C-20),FOXA2_(SC-6554),Mxi1_(bHLH),Sin3Ak-20,CEBPB,YY1,TR4,TBP,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 1206 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 1207 11 120996292 120996292 A G exonic TECTA NA synonymous SNV TECTA:NM_005422:exon7:c.A1485G:p.A495A exonic ENSG00000109927 NA synonymous SNV ENSG00000109927:ENST00000264037:exon7:c.A1485G:p.A495A,ENSG00000109927:ENST00000392793:exon8:c.A1485G:p.A495A NA NA 11q23.3 NA NA NA NA rs536069 0.77 0.77 0.79 0.772165 0.7266 0.6815 0.6441 0.969 0.7372 0.73 0.71 0.68 0.97 0.7117 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 -0.791145 NA NA 0.69365 0.921017 NA 0.732 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038480.1;CLNDSDB=.;CLNDSDBID=. 4.5347166 1207 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 1207 4 1369885 1369885 G A exonic UVSSA NA synonymous SNV UVSSA:NM_020894:exon10:c.G1497A:p.A499A exonic ENSG00000163945 NA synonymous SNV ENSG00000163945:ENST00000511563:exon3:c.G150A:p.A50A,ENSG00000163945:ENST00000512728:exon3:c.G150A:p.A50A,ENSG00000163945:ENST00000389851:exon10:c.G1497A:p.A499A,ENSG00000163945:ENST00000507531:exon10:c.G1497A:p.A499A,ENSG00000163945:ENST00000511216:exon10:c.G1497A:p.A499A NA NA 4p16.3 NA NA NA NA rs11724369 0.21 0.21 0.154 0.182308 0.3827 0.0704 0.2896 0.0371 0.2117 0.38 0.08 0.29 0.03 0.3676 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.379789 NA NA 0.381901 0.086207 NA 0.217 NA 4.5344656 1207 3 119426307 119426307 T C exonic MAATS1 NA synonymous SNV MAATS1:NM_033364:exon3:c.T258C:p.Y86Y exonic ENSG00000183833 NA synonymous SNV ENSG00000183833:ENST00000273390:exon3:c.T258C:p.Y86Y,ENSG00000183833:ENST00000463700:exon3:c.T258C:p.Y86Y Score=395;Name=lod=54 NA 3q13.33 NA NA NA NA rs9848716 0.61 0.61 0.585 0.585264 0.7286 0.8095 0.6369 0.1785 0.7198 0.73 0.79 0.66 0.18 0.6802 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 1.195786 NA NA 0.723488 0.257376 NA 0.543 NA 4.5343786 1207 1 161696998 161696998 C G intronic FCRLB NA NA NA intronic ENSG00000162746 NA NA NA NA NA 1q23.3 NA Name=HEY1,TAF1,Pol2-4H8,USF-1,Pol2,CHD2_(N-1250),USF1_(SC-8983),TBP,ZBTB7A_(SC-34508) Name=145 NA rs1875763 0.35 0.35 0.308 0.322085 0.5239 0.2401 0.3847 0.0998 0.455 0.51 0.28 0.43 0.12 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 0.058937 NA NA 0.497659 0.171752 NA 0.406 NA 4.534141 1207 2 241534163 241534163 G A intronic CAPN10 NA NA NA intronic ENSG00000142330 NA NA NA NA NA 2q37.3 NA Name=ZNF263 NA NA rs17846975 0.11 0.11 0.093 0.116813 0.159 0.0933 0.1254 0.0287 0.2106 0.18 0.09 0.13 0.02 0.1465 0.18 NA NA 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 0.160502 0.05084 NA 0.21 NA 4.533998 1207 10 99498234 99498234 G A UTR5 ZFYVE27 NM_001002262:c.-1G>A,NM_144588:c.-1G>A,NM_001174122:c.-1G>A,NM_001174120:c.-1G>A,NM_001174119:c.-1G>A,NM_001002261:c.-1G>A NA NA UTR5 ENSG00000155256 ENST00000370613:c.-1G>A,ENST00000357540:c.-1G>A,ENST00000337540:c.-1G>A,ENST00000393677:c.-1G>A,ENST00000453958:c.-1G>A,ENST00000359980:c.-1G>A,ENST00000356257:c.-1G>A NA NA Score=361;Name=lod=39 NA 10q24.2 Score=836;Name=V$E4BP4_01 NA NA NA rs3818876 0.46 0.46 0.471 0.436901 0.6571 0.3323 0.4539 0.289 0.5061 0.65 0.35 0.51 0.28 0.5304 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.152561 2.152561 NA 0.612093 0.347027 ID=COSN163731;OCCURENCE=1(breast) 0.384 NA 4.5337404 1207 13 33634983 33634983 C T exonic KL NA synonymous SNV KL:NM_004795:exon4:c.C1767T:p.H589H exonic ENSG00000133116 NA synonymous SNV ENSG00000133116:ENST00000380099:exon4:c.C1767T:p.H589H NA NA 13q13.1 NA NA NA NA rs564481 0.26 0.26 0.215 0.249201 0.3618 0.1637 0.5086 0.0401 0.32 0.37 0.17 0.47 0.04 0.3623 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.941212 NA NA 0.409302 0.098502 NA 0.268 NA 4.5332646 1207 21 43863521 43863521 A G exonic UBASH3A NA synonymous SNV UBASH3A:NM_001001895:exon12:c.A1617G:p.P539P,UBASH3A:NM_018961:exon13:c.A1731G:p.P577P exonic ENSG00000160185 NA synonymous SNV ENSG00000160185:ENST00000291535:exon12:c.A1617G:p.P539P,ENSG00000160185:ENST00000319294:exon13:c.A1731G:p.P577P NA NA 21q22.3 Score=868;Name=V$GR_Q6 NA NA NA rs868092 0.57 0.57 0.597 0.616813 0.6879 0.5169 0.6556 0.59 0.6554 0.63 0.45 0.64 0.54 0.7138 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 -1.162586 NA NA 0.732326 0.628234 NA 0.725 NA 4.5326406 1207 18 907675 907675 G A exonic ADCYAP1 NA synonymous SNV ADCYAP1:NM_001117:exon2:c.G126A:p.A42A,ADCYAP1:NM_001099733:exon3:c.G126A:p.A42A exonic ENSG00000141433 NA synonymous SNV ENSG00000141433:ENST00000579794:exon2:c.G126A:p.A42A,ENSG00000141433:ENST00000450565:exon3:c.G126A:p.A42A NA NA 18p11.32 NA NA Name=5 NA rs8192597 0.7 0.7 0.687 0.702077 0.6889 0.8492 0.7622 0.5061 0.7863 0.7 0.86 0.69 0.51 0.7364 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 0.988557 NA NA 0.708843 0.540727 ID=COSM438418;OCCURENCE=1(breast) 0.558 NA 4.5325236 1207 2 241528927 241528927 G A intronic CAPN10 NA NA NA intronic ENSG00000142330 NA NA NA NA NA 2q37.3 NA NA Name=3 NA rs55893551 0.11 0.11 0.094 0.11881 0.159 0.0933 0.1254 0.0363 0.2106 0.18 0.09 0.13 0.03 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 0.415619 NA NA 0.159292 0.054545 NA 0.21 NA 4.531708 1207 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 1207 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 1207 6 117862048 117862048 C A intronic DCBLD1 NA NA NA intronic ENSG00000164465 NA NA NA NA NA 6q22.1 NA Name=STAT3,CEBPB Name=33 NA rs2071825 0.37 0.37 0.355 0.399361 0.5179 0.1825 0.3905 0.3079 0.6309 0.53 0.2 0.41 0.3 0.4672 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.723176 NA NA 0.483721 0.349977 NA 0.442 NA 4.531179 1207 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=MafK_(ab50322),MafF_(M8194) 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 1207 2 233322875 233322875 C T intronic ALPI NA NA NA intronic ENSG00000163295 NA NA NA NA NA 2q37.1 NA Name=ERalpha_a NA NA rs2272421 0.09 0.09 0.078 0.0758786 0.171 0.0337 0.0965 0.0121 0.093 0.18 0.04 0.09 0.02 0.1355 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.677188 NA NA 0.163023 0.036995 NA 0.065 NA 4.530477 1207 9 115918306 115918306 G A intronic SLC31A2 NA NA NA intronic ENSG00000136867 NA NA NA NA NA 9q32 NA Name=YY1,Max,YY1_(C-20),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 1207 6 3010459 3010459 C T intronic NQO2 NA NA NA intronic ENSG00000124588 NA NA NA NA NA 6p25.2 NA Name=JunD,HNF4A_(H-171),FOSL2 Name=25 NA rs2475208 0.53 0.53 0.55 0.536542 0.4871 0.5327 0.4568 0.6256 0.5276 0.51 0.55 0.46 0.61 0.5054 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.453503 NA NA 0.477326 0.595325 NA 0.522 NA 4.530174 1207 17 72768970 72768970 G A intronic NAT9 NA NA NA intronic ENSG00000109065 NA NA NA NA NA 17q25.1 NA Name=Pol2 NA NA rs2305214 0.31 0.31 0.269 0.291733 0.4702 0.2589 0.3372 0.0719 0.407 0.47 0.26 0.38 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 -0.919638 NA NA NA NA ID=COSN165526;OCCURENCE=1(breast) 0.304 NA 4.5298 1207 16 68024995 68024995 G A intronic DPEP2 NA NA NA intronic ENSG00000167261,ENSG00000167264 NA NA NA NA Name=HDL cholesterol 16q22.1 NA NA NA NA rs255052 0.16 0.16 0.168 0.173323 0.1491 0.0972 0.1758 0.2405 0.184 0.15 0.12 0.18 0.22 0.1694 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042065 NA NA 0.151744 0.2202 NA 0.159 NA 4.529756 1207 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),CTCF,POU2F2,Pol2,HEY1,NFKB,TAF1,CTCF_(C-20),Pol2-4H8,Sin3Ak-20,Oct-2,TBP 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 1207 6 2768905 2768905 A G intronic WRNIP1 NA NA NA intronic ENSG00000124535 NA NA NA NA NA 6p25.2 NA NA Name=8 NA rs3734500 0.18 0.18 0.161 0.170727 0.1402 0.3343 0.2421 0.0408 0.1585 0.15 0.33 0.2 0.05 0.1782 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02782 NA NA 0.152674 0.068997 NA 0.123 NA 4.528926 1207 6 35705142 35705142 A G intronic ARMC12 NA NA NA intronic ENSG00000157343 NA NA NA Score=361;Name=lod=39 NA 6p21.31 NA NA NA NA rs12193672 0.1 0.1 0.099 0.0836661 0.166 0.0446 0.0807 0.0121 0.138 0.18 0.05 0.1 0.02 0.1415 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.371834 2.371834 NA 0.163605 0.036087 NA 0.109 NA 4.528895 1207 17 38635897 38635897 G A intronic TNS4 NA NA NA intronic ENSG00000131746 NA NA NA NA NA 17q21.2 NA Name=Pol2,Pol2(b) NA NA rs8076413 0.19 0.19 0.201 0.215855 0.1481 0.002 0.1441 0.5439 0.1135 0.13 0.0017 0.17 0.51 0.1634 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.473875 NA NA 0.159651 0.438947 NA 0.21 NA 4.528849 1207 3 171087469 171087469 G A exonic TNIK NA synonymous SNV TNIK:NM_001161560:exon2:c.C63T:p.P21P,TNIK:NM_001161561:exon2:c.C63T:p.P21P,TNIK:NM_001161562:exon2:c.C63T:p.P21P,TNIK:NM_001161563:exon2:c.C63T:p.P21P,TNIK:NM_001161564:exon2:c.C63T:p.P21P,TNIK:NM_001161565:exon2:c.C63T:p.P21P,TNIK:NM_001161566:exon2:c.C63T:p.P21P,TNIK:NM_015028:exon2:c.C63T:p.P21P exonic ENSG00000154310 NA synonymous SNV ENSG00000154310:ENST00000284483:exon2:c.C63T:p.P21P,ENSG00000154310:ENST00000341852:exon2:c.C63T:p.P21P,ENSG00000154310:ENST00000357327:exon2:c.C63T:p.P21P,ENSG00000154310:ENST00000369326:exon2:c.C63T:p.P21P,ENSG00000154310:ENST00000436636:exon2:c.C63T:p.P21P,ENSG00000154310:ENST00000460047:exon2:c.C63T:p.P21P,ENSG00000154310:ENST00000465393:exon2:c.C63T:p.P21P,ENSG00000154310:ENST00000470834:exon2:c.C63T:p.P21P,ENSG00000154310:ENST00000475336:exon2:c.C63T:p.P21P,ENSG00000154310:ENST00000488470:exon2:c.C63T:p.P21P,ENSG00000154310:ENST00000538048:exon2:c.C63T:p.P21P Score=597;Name=lod=355 NA 3q26.31 NA NA NA NA rs3796295 0.51 0.51 0.476 0.45008 0.7306 0.4276 0.6282 0.0779 0.5613 0.74 0.44 0.69 0.11 0.6632 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.231737 NA NA 0.744034 0.196527 NA 0.435 NA 4.5288326 1207 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 1207 8 20022486 20022486 T A intronic SLC18A1 NA NA NA intronic ENSG00000036565 NA NA NA NA NA 8p21.3 NA Name=Rad21,CTCF NA NA rs17092126 0.13 0.13 0.145 0.11861 0.165 0.1409 0.1455 0.0703 0.0941 0.16 0.15 0.14 0.08 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 -0.581706 NA NA 0.172791 0.086019 NA 0.152 NA 4.528409 1207 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 1207 1 153642372 153642372 G T intronic ILF2 NA NA NA intronic ENSG00000143621 NA NA NA NA NA 1q21.3 NA NA Name=6 NA rs79913857 0.08 0.08 0.074 0.0722843 0.1809 0.001 0.1153 0.0091 0.089 0.18 NA 0.12 0.01 0.129 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.912788 NA NA 0.16186 0.030867 NA 0.065 NA 4.52824 1207 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 1207 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 1207 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 1207 9 139686357 139686357 T C intronic TMEM141 NA NA NA intronic ENSG00000244187 NA NA NA NA NA 9q34.3 NA Name=CTCF_(SC-5916),ZEB1_(SC-25388),CTCF_(C-20),Znf143_(16618-1-AP),USF-1,CTCF,TCF12,TAF7_(SQ-8),SMC3_(ab9263),Rad21,SP1,YY1_(C-20) 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 1207 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 1207 6 29911030 29911030 C T intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA NA Name=10 NA rs9260151 0.16 0.16 0.216 0.178714 0.1173 0.1508 0.1643 0.2579 0.1738 0.1 0.15 0.18 0.24 0.2169 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.540238 3.540238 NA 0.139363 0.255525 NA 0.058 NA 4.526437 1207 12 113376331 113376331 C A UTR5 OAS3 NM_006187:c.-5C>A NA NA ncRNA_UTR5 ENSG00000111331 NA NA NA NA NA 12q24.13 NA Name=STAT1,Pol2-4H8,HMGN3,IRF4_(M-17),E2F6,E2F6_(H-50),HA-E2F1,Pol2,STAT2,CCNT2,SUZ12,Sin3Ak-20,E2F4,YY1_(C-20) Name=141 NA rs1859331 0.68 0.68 0.668 0.66274 0.6302 0.749 0.7233 0.5522 0.7137 0.64 0.78 0.7 0.62 0.6848 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 -0.094014 NA NA 0.658677 0.623073 NA 0.572 NA 4.526323 1207 6 169640529 169640529 C T intronic THBS2 NA NA NA intronic ENSG00000186340 NA NA NA NA NA 6q27 NA NA Name=5 NA rs6906765 0.2 0.2 0.198 0.198283 0.1561 0.2659 0.2219 0.1626 0.2035 0.16 0.27 0.21 0.16 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 -0.903921 NA NA 0.141163 0.15547 NA 0.181 NA 4.526137 1207 7 53103673 53103673 C A exonic POM121L12 NA synonymous SNV POM121L12:NM_182595:exon1:c.C309A:p.P103P exonic ENSG00000221900 NA synonymous SNV ENSG00000221900:ENST00000408890:exon1:c.C309A:p.P103P NA NA 7p12.1 NA NA NA NA rs1184320 0.44 0.44 0.43 0.485823 0.3688 0.5992 0.3444 0.4682 0.6135 0.36 0.6 0.36 0.44 0.4244 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010783 NA NA 0.347958 0.435252 NA 0.326 NA 4.5255086 1207 11 5632212 5632212 G A exonic TRIM6 NA synonymous SNV TRIM6:NM_001198645:exon6:c.G582A:p.L194L,TRIM6:NM_001198644:exon7:c.G582A:p.L194L,TRIM6:NM_001003818:exon8:c.G1191A:p.L397L,TRIM6:NM_058166:exon8:c.G1107A:p.L369L exonic ENSG00000121236 NA synonymous SNV ENSG00000121236:ENST00000515022:exon6:c.G582A:p.L194L,ENSG00000121236:ENST00000506134:exon7:c.G582A:p.L194L,ENSG00000121236:ENST00000278302:exon8:c.G1107A:p.L369L,ENSG00000121236:ENST00000380097:exon8:c.G1191A:p.L397L,ENSG00000121236:ENST00000445329:exon8:c.G582A:p.L194L,ENSG00000121236:ENST00000507320:exon8:c.G582A:p.L194L,ENSG00000121236:ENST00000380107:exon9:c.G1029A:p.L343L Score=401;Name=lod=57 NA 11p15.4 NA NA NA NA rs10769124 0.74 0.74 0.718 0.789137 0.662 0.998 0.7622 0.6044 0.9734 0.67 1 0.73 0.55 0.7652 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.114077 NA NA 0.714103 0.634484 NA 0.732 NA 4.5253636 1207 19 55175740 55175740 C T exonic LILRB4 NA synonymous SNV LILRB4:NM_001081438:exon4:c.C459T:p.F153F,LILRB4:NM_006847:exon4:c.C459T:p.F153F exonic ENSG00000186818 NA synonymous SNV ENSG00000186818:ENST00000270452:exon4:c.C459T:p.F153F,ENSG00000186818:ENST00000391733:exon4:c.C459T:p.F153F,ENSG00000186818:ENST00000391734:exon4:c.C459T:p.F153F,ENSG00000186818:ENST00000430952:exon4:c.C459T:p.F153F,ENSG00000186818:ENST00000434286:exon4:c.C459T:p.F153F,ENSG00000186818:ENST00000391736:exon6:c.C459T:p.F153F NA NA 19q13.42 NA NA NA NA rs3745871 0.43 0.43 0.438 0.398762 0.3817 0.5804 0.4179 0.3048 0.3425 0.4 0.61 0.35 0.32 0.3926 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.264305 NA NA 0.367093 0.328643 NA 0.297 NA 4.5252736 1207 14 77239567 77239567 A G intronic VASH1 NA NA NA exonic ENSG00000071246 NA synonymous SNV ENSG00000071246:ENST00000554237:exon4:c.A543G:p.S181S NA NA 14q24.3 NA NA Name=80 NA rs2075772 0.37 0.37 0.369 0.392372 0.4394 0.244 0.3991 0.3903 0.4949 0.44 0.24 0.4 0.4 0.4188 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071992 NA NA 0.450116 0.407853 ID=COSM147816;OCCURENCE=1(stomach) 0.362 NA 4.5250173 1208 9 131670919 131670919 T C exonic LRRC8A NA synonymous SNV LRRC8A:NM_001127245:exon2:c.T1476C:p.R492R,LRRC8A:NM_001127244:exon3:c.T1476C:p.R492R,LRRC8A:NM_019594:exon3:c.T1476C:p.R492R exonic ENSG00000136802 NA synonymous SNV ENSG00000136802:ENST00000372599:exon2:c.T1476C:p.R492R,ENSG00000136802:ENST00000259324:exon3:c.T1476C:p.R492R,ENSG00000136802:ENST00000372600:exon3:c.T1476C:p.R492R NA NA 9q34.11 Score=893;Name=V$ELK1_02 NA NA NA rs3750319 0.61 0.61 0.585 0.571086 0.7227 0.6657 0.7363 0.233 0.6575 0.75 0.66 0.73 0.27 0.6944 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 -0.705843 NA NA 0.724767 0.31426 NA 0.558 NA 4.5247996 1208 12 11150214 11150214 G A exonic TAS2R20 NA synonymous SNV TAS2R20:NM_176889:exon1:c.C261T:p.A87A exonic ENSG00000255837 NA synonymous SNV ENSG00000255837:ENST00000538986:exon1:c.C261T:p.A87A NA NA 12p13.2 NA NA NA NA rs11054142 0.41 0.41 0.384 0.422923 0.3817 0.755 0.3847 0.0651 0.6339 0.37 0.74 0.43 0.07 0.4132 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.349957 NA NA 0.346986 0.097955 NA 0.355 NA 4.5247806 1208 17 56348230 56348230 T G intronic MPO NA NA NA intronic ENSG00000005381 NA NA NA NA NA 17q22 NA NA Name=11 NA rs2071409 0.14 0.14 0.12 0.14976 0.169 0.1161 0.1081 0.1649 0.1738 0.15 0.11 0.12 0.15 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 1.649554 1.649554 NA 0.160233 0.144122 ID=COSM148306;OCCURENCE=1(stomach) 0.159 NA 4.524767 1208 17 80059758 80059758 G A intronic CCDC57 NA NA NA intronic ENSG00000176155 NA NA NA NA NA 17q25.3 NA Name=Pol2,Ini1,ELF1_(SC-631),RXRA,Sin3Ak-20,GR Name=8 NA rs7225637 0.4 0.4 0.394 0.395767 0.4821 0.13 0.3256 0.5946 0.362 0.49 0.14 0.35 0.59 0.462 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25 NA NA 0.53125 0.585148 NA 0.42 NA 4.52465 1208 5 21752056 21752056 A G exonic CDH12 NA synonymous SNV CDH12:NM_004061:exon15:c.T2175C:p.D725D exonic ENSG00000154162 NA synonymous SNV ENSG00000154162:ENST00000522262:exon12:c.T2055C:p.D685D,ENSG00000154162:ENST00000504376:exon14:c.T2175C:p.D725D,ENSG00000154162:ENST00000382254:exon15:c.T2175C:p.D725D NA NA 5p14.3 Score=772;Name=V$HEN1_02 NA NA NA rs6451993 0.57 0.57 0.513 0.549121 0.7485 0.4365 0.6282 0.3775 0.636 0.75 0.46 0.69 0.36 0.6577 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 -0.32283 NA NA 0.736395 0.453926 ID=COSM149802;OCCURENCE=1(stomach) 0.623 NA 4.5240716 1208 2 102968285 102968285 T C exonic IL1RL1 NA synonymous SNV IL1RL1:NM_016232:exon11:c.T1575C:p.S525S exonic ENSG00000115602 NA synonymous SNV ENSG00000115602:ENST00000233954:exon11:c.T1575C:p.S525S NA NA 2q12.1 NA NA NA NA rs4988958 0.4 0.4 0.411 0.385184 0.4046 0.125 0.2853 0.7542 0.2055 0.41 0.15 0.31 0.76 0.3497 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 0.328244 NA NA 0.388837 0.704494 NA 0.413 NA 4.5235296 1208 10 115980324 115980324 T C intronic TDRD1 NA NA NA intronic ENSG00000095627 NA NA NA Score=366;Name=lod=41 NA 10q25.3 NA NA NA NA rs35826066 0.13 0.13 0.118 0.130391 0.172 0.002 0.1297 0.2284 0.0879 0.17 0.0017 0.14 0.21 0.1374 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.183924 NA NA 0.167093 0.201543 NA 0.109 NA 4.523507 1208 9 136340200 136340200 T G exonic SLC2A6 NA synonymous SNV SLC2A6:NM_001145099:exon6:c.A810C:p.P270P,SLC2A6:NM_017585:exon6:c.A810C:p.P270P exonic ENSG00000160326 NA synonymous SNV ENSG00000160326:ENST00000371897:exon6:c.A810C:p.P270P,ENSG00000160326:ENST00000371899:exon6:c.A810C:p.P270P NA NA 9q34.2 NA Name=CTCF NA NA rs2073935 0.73 0.73 0.657 0.727835 0.6998 0.9385 0.7767 0.4758 0.8456 0.71 0.94 0.77 0.48 0.7402 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 -0.641551 NA NA 0.703514 0.523298 NA 0.645 NA 4.5231526 1208 12 11150319 11150319 T C exonic TAS2R20 NA synonymous SNV TAS2R20:NM_176889:exon1:c.A156G:p.A52A exonic ENSG00000255837 NA synonymous SNV ENSG00000255837:ENST00000538986:exon1:c.A156G:p.A52A NA NA 12p13.2 NA NA NA NA rs11054143 0.41 0.41 0.372 0.422923 0.3817 0.755 0.3847 0.0651 0.6339 0.37 0.74 0.43 0.07 0.4139 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.074232 NA NA 0.349035 0.09832 NA 0.348 NA 4.5220316 1208 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 1208 1 94576968 94576968 T C intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA Name=17 NA rs2297634 0.53 0.53 0.482 0.546925 0.4742 0.6528 0.6081 0.4599 0.5869 0.49 0.62 0.57 0.46 0.5219 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.458703 NA NA 0.481977 0.455742 NA 0.565 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000085538.1;CLNDSDB=.;CLNDSDBID=. 4.521923 1208 11 89868755 89868755 G A exonic NAALAD2 NA synonymous SNV NAALAD2:NM_005467:exon2:c.G111A:p.T37T exonic ENSG00000077616 NA synonymous SNV ENSG00000077616:ENST00000321955:exon2:c.G111A:p.T37T,ENSG00000077616:ENST00000375944:exon2:c.G111A:p.T37T,ENSG00000077616:ENST00000525171:exon2:c.G111A:p.T37T,ENSG00000077616:ENST00000527493:exon2:c.G111A:p.T37T,ENSG00000077616:ENST00000534061:exon2:c.G111A:p.T37T,ENSG00000077616:ENST00000525497:exon4:c.G111A:p.T37T NA NA 11q14.3 NA NA NA NA rs10734123 0.48 0.48 0.474 0.510783 0.3648 0.4177 0.5389 0.6815 0.5061 0.36 0.4 0.54 0.72 0.4267 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.231377 NA NA 0.353687 0.602453 ID=COSM147303;OCCURENCE=1(stomach) 0.471 NA 4.5214796 1208 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 1208 11 119229964 119229964 G A exonic USP2 NA synonymous SNV USP2:NM_001243759:exon4:c.C309T:p.Y103Y,USP2:NM_171997:exon4:c.C411T:p.Y137Y,USP2:NM_004205:exon5:c.C1038T:p.Y346Y exonic ENSG00000036672 NA synonymous SNV ENSG00000036672:ENST00000455332:exon4:c.C309T:p.Y103Y,ENSG00000036672:ENST00000525735:exon4:c.C411T:p.Y137Y,ENSG00000036672:ENST00000260187:exon5:c.C1038T:p.Y346Y Score=536;Name=lod=201 NA 11q23.3 NA NA NA NA rs2241646 0.72 0.72 0.72 0.707668 0.7247 0.8611 0.6383 0.5598 0.7812 0.72 0.87 0.67 0.58 0.7144 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 0.927253 NA NA 0.706519 0.570941 NA 0.638 NA 4.5210476 1208 19 46196634 46196634 C G intronic QPCTL NA NA NA intronic ENSG00000011478 NA NA NA NA NA 19q13.32 NA Name=CTCF,Pol2,ELF1_(SC-631),TAF1,YY1_(C-20),SMC3_(ab9263) Name=109 NA rs2302593 0.44 0.44 0.384 0.423323 0.503 0.4454 0.5418 0.2405 0.4816 0.49 0.44 0.54 0.29 0.4793 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.252165 1.252165 NA 0.496744 0.264412 NA 0.355 NA 4.520956 1208 21 33956579 33956579 T C exonic TCP10L NA synonymous SNV TCP10L:NM_144659:exon2:c.A36G:p.K12K exonic ENSG00000242220,ENSG00000265590 NA synonymous SNV ENSG00000242220:ENST00000300258:exon2:c.A36G:p.K12K NA NA 21q22.11 NA NA NA NA rs2017816 0.41 0.41 0.401 0.434305 0.3767 0.3492 0.3703 0.553 0.4663 0.39 0.37 0.38 0.5 0.3995 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.619577 NA NA 0.369535 0.526328 ID=COSM1566092;OCCURENCE=1(large_intestine) 0.391 NA 4.5209316 1208 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 1208 11 34502345 34502345 T C exonic ELF5 NA synonymous SNV ELF5:NM_001243080:exon4:c.A360G:p.T120T,ELF5:NM_001243081:exon5:c.A441G:p.T147T,ELF5:NM_001422:exon6:c.A645G:p.T215T,ELF5:NM_198381:exon6:c.A675G:p.T225T exonic ENSG00000135374 NA synonymous SNV ENSG00000135374:ENST00000429939:exon4:c.A360G:p.T120T,ENSG00000135374:ENST00000257832:exon6:c.A645G:p.T215T,ENSG00000135374:ENST00000312319:exon6:c.A675G:p.T225T NA NA 11p13 NA NA NA NA rs2231828 0.21 0.21 0.173 0.191893 0.4076 0.0288 0.2334 0.0333 0.3231 0.42 0.03 0.29 0.04 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 -1.382954 NA NA 0.405886 0.086512 NA 0.261 NA 4.5202806 1208 2 105977903 105977903 G C intronic FHL2 NA NA NA intronic ENSG00000115641 NA NA NA NA NA 2q12.1 NA NA NA NA rs2244182 0.29 0.29 0.266 0.305511 0.1362 0.5367 0.2334 0.3548 0.226 0.14 0.52 0.25 0.29 0.2072 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.562203 2.562203 NA 0.136395 0.333863 ID=COSN166233;OCCURENCE=1(breast),1(NS) 0.348 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041650.1;CLNDSDB=.;CLNDSDBID=. 4.520205 1208 13 106118612 106118612 C T ncRNA_exonic DAOA-AS1 NA NA NA ncRNA_exonic ENSG00000232307 NA NA NA NA NA 13q33.2 NA NA NA NA rs45476401 0.04 0.04 0.047 0.0411342 0.0507 0.0774 0.0259 0.0023 0.0573 0.05 0.08 0.04 0.002 0.0464 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 0.051185 NA NA 0.049492 0.015159 NA 0.058 NA 4.5200746 1208 7 99722266 99722266 G T intronic CNPY4 NA NA NA ncRNA_intronic ENSG00000242798 NA NA NA NA NA 7q22.1 NA Name=ZNF263 NA NA rs1880949 0.26 0.26 0.253 0.273962 0.2744 0.4058 0.2262 0.1558 0.3313 0.27 0.37 0.25 0.13 0.2633 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.420224 NA NA 0.275581 0.184975 NA 0.29 NA 4.5200523 1208 5 122682348 122682348 A G exonic CEP120 NA synonymous SNV CEP120:NM_001166226:exon20:c.T2748C:p.D916D,CEP120:NM_153223:exon21:c.T2826C:p.D942D exonic ENSG00000168944 NA synonymous SNV ENSG00000168944:ENST00000306467:exon20:c.T2826C:p.D942D,ENSG00000168944:ENST00000306481:exon20:c.T2748C:p.D916D,ENSG00000168944:ENST00000328236:exon21:c.T2826C:p.D942D Score=436;Name=lod=79 NA 5q23.2 NA NA NA NA rs1047438 0.7 0.7 0.685 0.682708 0.7406 0.5923 0.6729 0.7209 0.6718 0.74 0.59 0.69 0.75 0.6938 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 0.59588 NA NA 0.712442 0.76305 ID=COSM1432712;OCCURENCE=1(large_intestine) 0.71 NA 4.5198246 1208 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 1208 11 77921527 77921527 G C exonic USP35 NA nonsynonymous SNV USP35:NM_020798:exon10:c.G2626C:p.A876P exonic ENSG00000118369 NA nonsynonymous SNV ENSG00000118369:ENST00000530267:exon5:c.G1330C:p.A444P,ENSG00000118369:ENST00000526425:exon7:c.G1819C:p.A607P,ENSG00000118369:ENST00000441408:exon8:c.G1384C:p.A462P,ENSG00000118369:ENST00000529308:exon10:c.G2626C:p.A876P NA NA 11q14.1 NA NA NA NA rs2512526 0.88 0.88 0.915 0.849042 0.9602 0.6558 0.9207 0.9985 0.681 0.96 0.65 0.92 1 0.8926 1 1 T 0.007 B 0.012 B 0.073 N 1.000 P -0.48 N 3.38 T -0.981 T 0.000 T 0.048 -0.25 2.795 1.51 0.193 -0.362 4.474 -0.250353 NA 0.35 0.960879 0.988004 NA 0.92 NA 4.5196544 1208 12 54117592 54117592 G A intronic CALCOCO1 NA NA NA intronic ENSG00000012822 NA NA NA Score=265;Name=lod=16 NA 12q13.13 NA NA NA NA rs10783596 0.18 0.18 0.191 0.167133 0.166 0.2708 0.134 0.0961 0.181 0.16 0.32 0.14 0.1 0.1777 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.025071 2.025071 NA 0.137442 0.107581 NA 0.239 NA 4.518858 1208 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 1208 10 133948634 133948634 T C exonic JAKMIP3 NA synonymous SNV JAKMIP3:NM_001105521:exon4:c.T939C:p.N313N exonic ENSG00000188385 NA synonymous SNV ENSG00000188385:ENST00000298622:exon4:c.T939C:p.N313N Score=464;Name=lod=103 NA 10q26.3 NA NA NA NA rs2814182 0.85 0.85 0.853 0.860623 0.6958 0.9891 0.8501 0.9796 0.7444 0.7 0.99 0.82 0.96 0.759 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 -0.460444 NA NA 0.693312 0.950768 NA 0.797 NA 4.5185546 1208 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 1208 16 4027605 4027605 C T exonic ADCY9 NA synonymous SNV ADCY9:NM_001116:exon9:c.G2706A:p.A902A exonic ENSG00000162104 NA synonymous SNV ENSG00000162104:ENST00000294016:exon9:c.G2706A:p.A902A Score=278;Name=lod=18 NA 16p13.3 NA NA NA NA rs2240735 0.55 0.55 0.513 0.46845 0.7465 0.5228 0.6527 0.1437 0.4346 0.76 0.55 0.65 0.14 0.6526 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 -0.038168 NA NA 0.749244 0.244075 NA 0.507 NA 4.5183226 1208 16 83998662 83998662 A G intronic OSGIN1 NA NA NA intronic ENSG00000140961 NA NA NA NA NA 16q23.3 NA Name=Pol2 NA NA rs733728 0.19 0.19 0.191 0.207668 0.172 0.0962 0.1196 0.3638 0.2106 0.17 0.11 0.12 0.36 0.1621 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.212102 NA NA 0.147791 0.298864 NA 0.188 NA 4.518109 1208 7 77539744 77539744 G A intronic PHTF2 NA NA NA intronic ENSG00000006576 NA NA NA NA NA 7q21.11 NA Name=CTCF Name=7 NA rs711309 0.47 0.47 0.418 0.423722 0.4851 0.6825 0.549 0.1082 0.4315 0.5 0.69 0.56 0.1 0.5006 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 2.46116 2.46116 NA 0.496832 0.170436 NA 0.384 NA 4.517468 1208 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 1208 16 84882911 84882911 T C intronic CRISPLD2 NA NA NA UTR5 ENSG00000103196 ENST00000566789:c.-192T>C NA NA NA NA 16q24.1 NA Name=JunD NA NA rs4783086 0.56 0.56 0.56 0.577077 0.6501 0.5992 0.4669 0.497 0.6656 0.65 0.56 0.49 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 -0.701368 NA NA NA NA NA 0.478 NA 4.5165667 1208 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 1208 22 45782903 45782903 T C exonic SMC1B NA synonymous SNV SMC1B:NM_148674:exon11:c.A1755G:p.L585L exonic ENSG00000077935 NA synonymous SNV ENSG00000077935:ENST00000357450:exon11:c.A1755G:p.L585L,ENSG00000077935:ENST00000404354:exon11:c.A1755G:p.L585L NA NA 22q13.31 NA NA NA NA rs6007010 0.53 0.53 0.55 0.566494 0.3728 0.5268 0.3977 0.9054 0.4683 0.37 0.52 0.44 0.87 0.4201 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 0.738397 NA NA 0.357317 0.829011 ID=COSM1416790,COSM1416789;OCCURENCE=1(large_intestine) 0.565 NA 4.5164496 1208 18 32887540 32887540 C T ncRNA_exonic ZNF271 NA NA NA ncRNA_exonic ENSG00000257267 NA NA NA NA NA 18q12.2 NA NA NA NA rs62096521 0.03 0.03 0.022 0.01877 0.0606 NA 0.0403 0.0015 0.0031 0.06 NA 0.04 0.002 0.0359 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 -1.062374 NA 0.1 0.053721 0.010894 NA 0.058 NA 4.5164456 1208 4 86952590 86952590 G A intronic MAPK10 NA NA NA intronic ENSG00000109339 NA NA NA NA NA 4q21.3 NA NA NA NA rs13103861 0.14 0.14 0.165 0.142173 0.1451 0.005 0.0865 0.3434 0.0481 0.15 0.01 0.09 0.33 0.1587 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.657142 NA NA 0.179884 0.322515 NA 0.167 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117594.2;CLNDSDB=.;CLNDSDBID=. 4.516316 1208 2 234754506 234754506 G A intronic HJURP NA NA NA intronic ENSG00000123485 NA NA NA NA NA 2q37.1 NA Name=PU.1 Name=3 NA rs2302155 0.4 0.4 0.356 0.347045 0.5159 0.3938 0.5086 0.1059 0.3364 0.54 0.41 0.49 0.11 0.4574 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.163473 NA NA 0.510698 0.165683 NA 0.493 NA 4.516002 1208 11 61674118 61674118 C T exonic RAB3IL1 NA synonymous SNV RAB3IL1:NM_013401:exon5:c.G477A:p.T159T exonic ENSG00000167994 NA synonymous SNV ENSG00000167994:ENST00000394836:exon5:c.G477A:p.T159T,ENSG00000167994:ENST00000531922:exon5:c.G618A:p.T206T NA NA 11q12.2 NA NA NA NA rs174476 0.19 0.19 0.196 0.160543 0.4016 0.0308 0.2291 0.025 0.181 0.39 0.02 0.25 0.03 0.3392 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.927287 NA NA 0.410561 0.085831 NA 0.304 NA 4.5153056 1208 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 1209 5 171533656 171533656 C T exonic STK10 NA synonymous SNV STK10:NM_005990:exon6:c.G756A:p.S252S exonic ENSG00000072786 NA synonymous SNV ENSG00000072786:ENST00000176763:exon6:c.G756A:p.S252S NA NA 5q35.1 Score=867;Name=V$SPZ1_01 NA NA NA rs2306962 0.69 0.69 0.674 0.684505 0.7356 0.8532 0.7507 0.4153 0.7751 0.74 0.84 0.73 0.41 0.7123 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 -0.702758 NA NA 0.703837 0.468679 NA 0.623 NA 4.5149296 1209 4 152609700 152609700 A C intronic PET112 NA NA NA intronic ENSG00000059691 NA NA NA NA NA 4q31.3 NA NA Name=19 NA rs6535815 0.52 0.52 0.528 0.580272 0.4851 0.4554 0.3977 0.8147 0.6196 0.47 0.46 0.37 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 -0.203761 NA NA NA NA NA 0.565 NA 4.5149 1209 4 71115152 71115152 T C exonic CSN3 NA synonymous SNV CSN3:NM_005212:exon4:c.T525C:p.V175V exonic ENSG00000171209 NA synonymous SNV ENSG00000171209:ENST00000304954:exon4:c.T525C:p.V175V NA NA 4q13.3 NA NA NA NA rs3775738 0.33 0.33 0.308 0.314497 0.3946 0.3175 0.4006 0.1899 0.3364 0.41 0.32 0.38 0.17 0.3638 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134187 NA NA 0.393605 0.226282 ID=COSM1131069;OCCURENCE=1(prostate) 0.333 NA 4.5146616 1209 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$OCT1_05 NA NA NA rs6715296 0.71 0.71 0.68 0.699281 0.7048 0.8591 0.7622 0.5166 0.7311 0.69 0.87 0.73 0.53 0.7265 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.536176 NA NA 0.720717 0.569095 NA 0.616 NA 4.5146496 1209 1 43906896 43906896 A G exonic SZT2 NA synonymous SNV SZT2:NM_015284:exon52:c.A7185G:p.E2395E exonic ENSG00000198198 NA synonymous SNV ENSG00000198198:ENST00000372442:exon38:c.A4659G:p.E1553E,ENSG00000198198:ENST00000562955:exon52:c.A7185G:p.E2395E NA NA 1p34.2 NA NA NA NA rs2027130 0.26 0.26 0.219 0.196286 0.4205 0.0823 0.3847 0.0885 0.0951 0.42 0.08 0.41 0.1 0.3184 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.861619 NA NA 0.413372 0.133 NA 0.355 NA 4.5143946 1209 12 104067812 104067812 C T exonic STAB2 NA synonymous SNV STAB2:NM_017564:exon23:c.C2499T:p.Y833Y exonic ENSG00000136011 NA synonymous SNV ENSG00000136011:ENST00000388887:exon23:c.C2499T:p.Y833Y NA NA 12q23.3 NA NA NA NA rs11614418 0.39 0.39 0.398 0.421725 0.3817 0.5278 0.389 0.3177 0.5174 0.37 0.49 0.36 0.32 0.3969 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467799 NA NA 0.373837 0.301861 NA 0.37 NA 4.5142296 1209 4 175237408 175237408 T C exonic CEP44 NA synonymous SNV CEP44:NM_001040157:exon10:c.T1053C:p.T351T,CEP44:NM_001145314:exon10:c.T1053C:p.T351T exonic ENSG00000164118 NA synonymous SNV ENSG00000164118:ENST00000296519:exon8:c.T1053C:p.T351T,ENSG00000164118:ENST00000426172:exon8:c.T1053C:p.T351T,ENSG00000164118:ENST00000396791:exon10:c.T1053C:p.T351T,ENSG00000164118:ENST00000457424:exon10:c.T1053C:p.T351T,ENSG00000164118:ENST00000503780:exon10:c.T1053C:p.T351T NA NA 4q34.1 Score=789;Name=V$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 1209 20 389456 389456 C T intronic RBCK1 NA NA NA intronic ENSG00000125826 NA NA NA NA NA 20p13 NA Name=EBF1_(C-8),ZNF263,EBF Name=5 NA rs3746792 0.42 0.42 0.429 0.404153 0.5229 0.3323 0.3746 0.379 0.411 0.51 0.34 0.4 0.4 0.4712 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.245398 1.245398 NA 0.492895 0.377798 NA 0.471 NA 4.513005 1209 15 22466126 22466126 A C intergenic OR4N3P,REREP3 dist=51731;dist=80439 NA NA ncRNA_exonic ENSG00000271288 NA NA NA NA NA 15q11.2 NA Name=EBF,TCF12 Name=6 NA rs1985064 NA NA 0.483 0.50599 0.5119 0.5119 0.4597 0.5303 0.4939 NA NA NA NA 0.4935 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.349644 NA 1 0.481923 0.485156 NA 0.304 NA 4.512677 1209 17 17122327 17122327 G A intronic FLCN NA NA NA intronic ENSG00000154803,ENSG00000264187 NA NA NA NA NA 17p11.2 Score=919;Name=V$AREB6_01 NA NA NA rs8065832 0.53 0.53 0.465 0.502995 0.495 0.6974 0.536 0.3714 0.4652 0.52 0.68 0.51 0.37 0.5023 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.216446 NA NA 0.490233 0.368815 NA 0.471 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082618.1;CLNDSDB=.;CLNDSDBID=. 4.512467 1209 4 120425777 120425777 A C intronic PDE5A NA NA NA ncRNA_intronic ENSG00000245958 NA NA NA NA NA 4q26 NA Name=FOXA1_(C-20),FOXA1_(SC-101058) NA NA rs3775841 0.3 0.3 0.272 0.275958 0.2873 0.3978 0.2896 0.2443 0.1718 0.29 0.4 0.26 0.23 0.271 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391173 NA NA 0.262791 0.212631 NA 0.246 NA 4.5122423 1209 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 1209 20 5903894 5903894 A G exonic CHGB NA synonymous SNV CHGB:NM_001819:exon4:c.A1104G:p.E368E exonic ENSG00000089199 NA synonymous SNV ENSG00000089199:ENST00000378961:exon4:c.A1104G:p.E368E NA NA 20p12.3 NA NA NA NA rs236153 0.48 0.48 0.471 0.515176 0.3499 0.5288 0.5231 0.6573 0.4734 0.35 0.52 0.46 0.65 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 -0.210436 NA NA 0.359535 0.62256 NA 0.551 NA 4.5118316 1209 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 1209 11 129754644 129754644 A G exonic NFRKB NA synonymous SNV NFRKB:NM_006165:exon5:c.T813C:p.T271T,NFRKB:NM_001143835:exon7:c.T738C:p.T246T exonic ENSG00000170322 NA synonymous SNV ENSG00000170322:ENST00000304521:exon5:c.T738C:p.T246T,ENSG00000170322:ENST00000524794:exon5:c.T813C:p.T271T,ENSG00000170322:ENST00000446488:exon6:c.T738C:p.T246T,ENSG00000170322:ENST00000531755:exon6:c.T774C:p.T258T,ENSG00000170322:ENST00000524746:exon7:c.T738C:p.T246T NA NA 11q24.3 Score=918;Name=V$AREB6_02 NA NA NA rs1131972 0.75 0.75 0.781 0.764377 0.7097 0.6647 0.6902 0.9788 0.6861 0.71 0.65 0.71 0.96 0.7313 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 -0.067337 NA NA 0.714568 0.934348 NA 0.812 NA 4.5110986 1209 19 15996907 15996907 C T intronic CYP4F2 NA NA NA intronic ENSG00000186115 NA NA NA NA NA 19p13.12 NA Name=NRSF NA NA rs3093160 0.11 0.11 0.108 0.105232 0.1769 0.0585 0.1138 0.0537 0.1431 0.16 0.07 0.15 0.03 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 -0.215329 NA NA 0.17 0.059237 NA 0.116 NA 4.5105 1209 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=ETS1,BCLAF1_(M33-P5B11),Znf143_(16618-1-AP),NFKB,TAF1,Pol2-4H8,CTCF,Pol2,USF2,HA-E2F1,BAF170,SIX5,Sin3Ak-20,Mxi1_(bHLH),ERalpha_a,YY1_(C-20),c-Myc 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 1209 12 10783729 10783729 A G exonic STYK1 NA synonymous SNV STYK1:NM_018423:exon5:c.T366C:p.S122S exonic ENSG00000060140 NA synonymous SNV ENSG00000060140:ENST00000075503:exon5:c.T366C:p.S122S NA NA 12p13.2 NA NA NA NA rs2290717 0.27 0.27 0.232 0.253195 0.3787 0.2063 0.2378 0.1097 0.3773 0.39 0.21 0.28 0.14 0.3478 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.173659 NA NA 0.429767 0.159101 NA 0.196 NA 4.5103996 1209 11 55606818 55606818 C T exonic OR5D16 NA synonymous SNV OR5D16:NM_001005496:exon1:c.C591T:p.S197S exonic ENSG00000205029 NA synonymous SNV ENSG00000205029:ENST00000378396:exon1:c.C591T:p.S197S NA NA 11q11 NA NA NA NA rs11231253 0.43 0.43 NA 0.453075 0.3638 0.626 0.4957 0.2746 0.5777 0.36 0.62 0.5 0.29 0.4243 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.695332 1.695332 NA 0.369413 0.304861 ID=COSM1179679;OCCURENCE=1(prostate) 0.326 NA 4.5091536 1209 6 41652604 41652604 T C exonic TFEB NA synonymous SNV TFEB:NM_001271943:exon8:c.A909G:p.P303P,TFEB:NM_001167827:exon9:c.A1206G:p.P402P,TFEB:NM_001271944:exon9:c.A1164G:p.P388P,TFEB:NM_001271945:exon9:c.A1164G:p.P388P,TFEB:NM_007162:exon10:c.A1164G:p.P388P exonic ENSG00000112561 NA synonymous SNV ENSG00000112561:ENST00000406563:exon7:c.A738G:p.P246P,ENSG00000112561:ENST00000343317:exon8:c.A1422G:p.P474P,ENSG00000112561:ENST00000358871:exon9:c.A1206G:p.P402P,ENSG00000112561:ENST00000373033:exon9:c.A1164G:p.P388P,ENSG00000112561:ENST00000403298:exon9:c.A1164G:p.P388P,ENSG00000112561:ENST00000420312:exon9:c.A909G:p.P303P,ENSG00000112561:ENST00000230323:exon10:c.A1164G:p.P388P NA NA 6p21.1 Score=735;Name=V$MYOGNF1_01 NA NA NA rs1062966 0.74 0.74 0.724 0.764177 0.7028 0.7778 0.6729 0.854 0.7566 0.7 0.73 0.65 0.88 0.7379 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 -0.464708 NA NA 0.717396 0.831895 ID=COSM451444;OCCURENCE=1(breast) 0.623 NA 4.5085706 1209 1 120387120 120387120 G A exonic NBPF7 NA synonymous SNV NBPF7:NM_001047980:exon1:c.C39T:p.T13T ncRNA_exonic ENSG00000215864 NA NA NA NA NA 1p12 NA Name=CTCF,CTCFL_(SC-98982),Rad21 NA NA rs12405228 0.4 0.4 0.368 0.358027 0.5835 0.3641 0.4827 0.0416 0.4591 0.58 0.39 0.54 0.04 0.5077 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384943 NA NA 0.567314 0.124004 NA 0.21 NA 4.5081526 1209 2 211342502 211342502 G A intronic CPS1 NA NA NA intronic ENSG00000021826 NA NA NA NA NA 2q34 NA Name=TBP,Pol2-4H8,HEY1 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 1209 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 1209 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 1209 1 40776752 40776752 C A intronic COL9A2 NA NA NA intronic ENSG00000049089 NA NA NA NA NA 1p34.2 NA Name=CTCF,E2F6_(H-50),CTCF_(SC-5916) NA NA rs3737815 0.22 0.22 0.188 0.178115 0.169 0.4266 0.2305 0.0333 0.09 0.18 0.43 0.22 0.04 0.1693 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.830523 1.830523 NA 0.154186 0.06128 NA 0.167 NA 4.507514 1209 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 1209 17 9395231 9395231 G A exonic STX8 NA synonymous SNV STX8:NM_004853:exon6:c.C456T:p.D152D exonic ENSG00000170310 NA nonsynonymous SNV ENSG00000170310:ENST00000575294:exon3:c.C125T:p.T42M Score=496;Name=lod=138 NA 17p13.1 NA NA NA NA rs9893664 0.76 0.76 0.735 0.71226 0.8628 0.8462 0.7983 0.472 0.683 0.86 0.83 0.8 0.5 0.7856 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 1.139058 NA NA 0.844419 0.508398 NA 0.732 NA 4.507181 1209 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 1209 6 80778853 80778853 G C intergenic TTK,BCKDHB dist=26609;dist=37491 NA NA ncRNA_exonic ENSG00000218418 NA NA NA Score=563;Name=lod=260 NA 6q14.1 NA NA NA NA rs6923330 0.35 0.35 0.318 0.335463 0.493 0.2927 0.2824 0.2141 0.4192 0.5 0.26 0.35 0.22 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 0.612797 NA NA NA NA NA 0.399 NA 4.507 1209 19 36497358 36497358 C G exonic SYNE4 NA nonsynonymous SNV SYNE4:NM_001039876:exon5:c.G834C:p.Q278H exonic ENSG00000181392 NA nonsynonymous SNV ENSG00000181392:ENST00000340477:exon3:c.G495C:p.Q165H,ENSG00000181392:ENST00000324444:exon5:c.G834C:p.Q278H NA NA 19q13.12 NA NA NA NA rs2285422 0.92 0.92 0.935 0.91274 0.9483 0.8115 0.951 0.997 0.8395 0.95 0.82 0.94 0.99 0.9274 0.99 1 T 0.0 B 0.0 B 0.442 N 1.000 P -1.04 N 1.52 T -0.998 T 0.000 T 0.059 -1.925 0.008 -1.04 -0.177 0.107 4.697 -1.924664 NA 1 0.951166 0.991187 NA 0.949 NA 4.5064674 1209 7 97933601 97933601 C T exonic BAIAP2L1 NA synonymous SNV BAIAP2L1:NM_018842:exon12:c.G1329A:p.L443L exonic ENSG00000006453 NA synonymous SNV ENSG00000006453:ENST00000005260:exon12:c.G1329A:p.L443L NA NA 7q21.3 Score=776;Name=V$STAT5A_02 NA NA NA rs1045916 0.63 0.63 0.591 0.555711 0.7485 0.6915 0.6787 0.3253 0.4417 0.75 0.69 0.68 0.35 0.6689 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 -0.088188 NA NA 0.742907 0.386972 NA 0.522 NA 4.5063596 1209 10 5437365 5437365 A G exonic TUBAL3 NA synonymous SNV TUBAL3:NM_001171864:exon3:c.T201C:p.A67A,TUBAL3:NM_024803:exon3:c.T321C:p.A107A exonic ENSG00000178462 NA synonymous SNV ENSG00000178462:ENST00000380419:exon3:c.T321C:p.A107A,ENSG00000178462:ENST00000479328:exon3:c.T201C:p.A67A Score=486;Name=lod=126 NA 10p15.1 NA NA NA NA rs11253156 0.78 0.78 0.763 0.789736 0.7227 0.8294 0.8084 0.8238 0.7587 0.72 0.83 0.79 0.81 0.7417 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 -0.056796 NA NA 0.696163 0.794825 NA 0.739 NA 4.5061036 1209 12 49314862 49314862 C A exonic CCDC65 NA synonymous SNV CCDC65:NM_033124:exon7:c.C1176A:p.T392T exonic ENSG00000139537 NA synonymous SNV ENSG00000139537:ENST00000552942:exon5:c.C867A:p.T289T,ENSG00000139537:ENST00000266984:exon7:c.C1176A:p.T392T,ENSG00000139537:ENST00000320516:exon7:c.C1176A:p.T392T NA NA 12q13.12 NA NA NA NA rs10875894 0.36 0.36 0.326 0.308307 0.4095 0.4454 0.4942 0.1014 0.2106 0.4 0.47 0.44 0.1 0.3697 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.162454 NA NA 0.381512 0.156605 NA 0.232 NA 4.5059546 1209 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 1209 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 1209 11 102668687 102668687 T G ncRNA_intronic WTAPP1 NA NA NA ncRNA_intronic ENSG00000255282 NA NA NA NA NA 11q22.2 NA NA NA NA rs17880344 0.04 0.04 0.03 0.0307508 0.0696 0.004 0.0634 0.0053 0.0297 0.06 0.0035 0.07 0.0041 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 1.526062 1.526062 NA 0.027099 0.00749 NA NA NA 4.5051676 1210 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 1210 11 102668686 102668686 T A ncRNA_intronic WTAPP1 NA NA NA ncRNA_intronic ENSG00000255282 NA NA NA NA NA 11q22.2 NA NA NA NA rs17881028 0.04 0.04 0.03 0.0307508 0.0696 0.004 0.0634 0.0053 0.0297 0.06 0.0035 0.07 0.0041 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 0.294343 NA NA 0.027681 0.007944 NA NA NA 4.5045856 1210 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 1210 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 1210 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 1210 11 59945745 59945745 T C exonic MS4A6A NA synonymous SNV MS4A6A:NM_022349:exon4:c.A327G:p.L109L,MS4A6A:NM_152851:exon4:c.A327G:p.L109L,MS4A6A:NM_001247999:exon5:c.A411G:p.L137L,MS4A6A:NM_152852:exon5:c.A327G:p.L109L exonic ENSG00000110077 NA synonymous SNV ENSG00000110077:ENST00000426738:exon3:c.A192G:p.L64L,ENSG00000110077:ENST00000323961:exon4:c.A327G:p.L109L,ENSG00000110077:ENST00000412309:exon4:c.A411G:p.L137L,ENSG00000110077:ENST00000420732:exon4:c.A327G:p.L109L,ENSG00000110077:ENST00000528851:exon4:c.A327G:p.L109L,ENSG00000110077:ENST00000527254:exon5:c.A362G:p.X121X,ENSG00000110077:ENST00000529054:exon5:c.A411G:p.L137L,ENSG00000110077:ENST00000530839:exon5:c.A327G:p.L109L NA NA 11q12.2 NA NA NA NA rs12453 0.28 0.28 0.303 0.307308 0.4046 0.2252 0.2723 0.1581 0.5184 0.42 0.18 0.33 0.16 0.3591 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.054092 NA NA 0.399418 0.200363 ID=COSM147256,COSM1162170;OCCURENCE=1(stomach),1(pancreas) 0.399 NA 4.5035486 1210 22 43623353 43623353 G A intronic SCUBE1 NA NA NA intronic ENSG00000159307 NA NA NA NA NA 22q13.2 NA Name=Egr-1 Name=18 NA rs129414 0.35 0.35 0.339 0.351038 0.508 0.124 0.4568 0.3192 0.3916 0.49 0.13 0.46 0.32 0.4758 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.354113 NA NA 0.513256 0.373694 NA 0.5 NA 4.502944 1210 21 45978499 45978499 T G exonic KRTAP10-3 NA nonsynonymous SNV KRTAP10-3:NM_198696:exon1:c.A100C:p.T34P exonic ENSG00000212935 NA nonsynonymous SNV ENSG00000212935:ENST00000391620:exon1:c.A100C:p.T34P NA NA 21q22.3 NA NA NA NA rs377549 0.83 0.83 0.87 0.869209 0.9563 0.754 0.8559 0.8865 0.8845 0.9 0.7 0.88 0.84 0.9201 0.95 1 T 0.0 B 0.0 B . . 0.118 P -1.45 N 3.49 T -1.016 T 0.000 T 0.084 -2.38 0.004 1.18 0.222 0.619 1.534 -2.379653 NA 1 0.954106 0.880753 NA 0.725 NA 4.5028274 1210 8 90967711 90967711 A G exonic NBN NA synonymous SNV NBN:NM_002485:exon10:c.T1197C:p.D399D exonic ENSG00000104320 NA synonymous SNV ENSG00000104320:ENST00000265433:exon10:c.T1197C:p.D399D,ENSG00000104320:ENST00000409330:exon10:c.T951C:p.D317D NA NA 8q21.3 NA NA NA NA rs709816 0.58 0.58 0.563 0.608626 0.341 0.6647 0.5548 0.8533 0.5337 0.35 0.68 0.54 0.84 0.4676 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 -1.430696 NA NA 0.35593 0.752725 NA 0.558 NA 4.5021366 1210 14 107178832 107178832 A G intergenic LINC00221,NONE dist=227303;dist=NONE NA NA exonic ENSG00000211974 NA synonymous SNV ENSG00000211974:ENST00000390634:exon2:c.T345C:p.Y115Y Score=439;Name=lod=81 NA 14q32.33 NA Name=Pol2 NA NA rs10144402 0.99 0.99 0.994 NA NA NA NA NA NA 0.99 1 0.99 0.98 0.9984 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.669838 NA NA 0.99952 1 NA 0.949 NA 4.50208 1210 4 22439914 22439914 A C exonic GPR125 NA synonymous SNV GPR125:NM_145290:exon8:c.T1050G:p.P350P exonic ENSG00000152990 NA synonymous SNV ENSG00000152990:ENST00000508133:exon3:c.T372G:p.P124P,ENSG00000152990:ENST00000514129:exon7:c.T258G:p.P86P,ENSG00000152990:ENST00000334304:exon8:c.T1050G:p.P350P,ENSG00000152990:ENST00000502482:exon8:c.T1050G:p.P350P Score=456;Name=lod=95 NA 4p15.2 NA NA NA NA rs6823735 0.59 0.59 0.562 0.549521 0.7515 0.6151 0.6427 0.2632 0.5951 0.75 0.65 0.67 0.23 0.6781 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 1.527111 1.527111 NA 0.735349 0.347708 NA 0.565 NA 4.5017176 1210 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 1210 5 178294059 178294059 T C exonic ZNF354B NA synonymous SNV ZNF354B:NM_058230:exon4:c.T243C:p.G81G exonic ENSG00000178338 NA synonymous SNV ENSG00000178338:ENST00000520377:exon3:c.T243C:p.G81G,ENSG00000178338:ENST00000322434:exon4:c.T243C:p.G81G NA NA 5q35.3 NA NA NA NA rs11952817 0.3 0.3 0.312 0.302915 0.4254 0.1538 0.3055 0.379 0.226 0.39 0.16 0.32 0.33 0.3501 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.253344 NA NA 0.389651 0.360418 ID=COSM150026;OCCURENCE=1(stomach) 0.203 NA 4.5015156 1210 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 1210 1 46976837 46976837 C T exonic DMBX1 NA synonymous SNV DMBX1:NM_147192:exon3:c.C579T:p.P193P,DMBX1:NM_172225:exon3:c.C564T:p.P188P exonic ENSG00000197587 NA synonymous SNV ENSG00000197587:ENST00000360032:exon3:c.C564T:p.P188P,ENSG00000197587:ENST00000371956:exon3:c.C579T:p.P193P NA NA 1p33 NA NA NA NA rs1886116 0.21 0.21 0.189 0.176717 0.3986 0.0109 0.3588 0.0287 0.1902 0.39 0.02 0.33 0.06 0.3308 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689565 NA NA 0.436133 0.094502 NA 0.203 NA 4.5011336 1210 1 24465113 24465113 C T exonic IL22RA1 NA synonymous SNV IL22RA1:NM_021258:exon2:c.G135A:p.P45P exonic ENSG00000142677 NA synonymous SNV ENSG00000142677:ENST00000270800:exon2:c.G135A:p.P45P NA NA 1p36.11 NA NA NA NA rs10903022 0.45 0.45 0.431 0.470647 0.3628 0.7619 0.5231 0.261 0.5276 0.37 0.75 0.49 0.22 0.4218 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 -0.382847 NA NA 0.381163 0.272356 NA 0.355 NA 4.5009036 1210 1 155106054 155106054 A G intronic EFNA1 NA NA NA intronic ENSG00000169242 NA NA NA NA NA 1q22 NA Name=HDAC2_(SC-6296) Name=3 NA rs4390169 0.31 0.31 0.289 0.319688 0.5219 0.1954 0.3141 0.1513 0.4714 0.5 0.14 0.39 0.13 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 0.91381 NA NA 0.528721 0.174081 NA 0.304 NA 4.500679 1210 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 1210 1 145039562 145039562 C T intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA Name=Pol2(b),EBF,ZNF263,CTCF 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 1210 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 1210 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 1210 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 1210 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 1210 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 1210 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 1210 1 144930571 144930571 C A intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA Name=USF-1,USF1_(SC-8983) 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 1210 X 151283567 151283567 A T UTR3 MAGEA10-MAGEA5,MAGEA5 NM_001204811:c.*71T>A;NM_021049:c.*71T>A NA NA ncRNA_exonic ENSG00000242520,ENSG00000266560 NA NA NA NA NA Xq28 NA NA NA NA rs210575 0.98 0.98 0.98092 NA NA NA NA NA NA 1 1 1 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 0.17504 NA NA NA NA NA 0.739 NA 4.5 1210 3 151166422 151166422 C T exonic IGSF10 NA synonymous SNV IGSF10:NM_178822:exon4:c.G1347A:p.Q449Q exonic ENSG00000152580 NA synonymous SNV ENSG00000152580:ENST00000282466:exon4:c.G1347A:p.Q449Q Score=371;Name=lod=43 NA 3q25.1 NA NA NA NA rs6798252 0.74 0.74 0.734 0.710663 0.7356 0.7401 0.7089 0.7057 0.6626 0.75 0.75 0.7 0.75 0.7092 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 0.545032 NA NA 0.722209 0.703359 NA 0.587 NA 4.4996576 1210 7 4172006 4172006 C T exonic SDK1 NA synonymous SNV SDK1:NM_152744:exon28:c.C4179T:p.S1393S exonic ENSG00000146555 NA synonymous SNV ENSG00000146555:ENST00000389531:exon28:c.C4179T:p.S1393S,ENSG00000146555:ENST00000404826:exon28:c.C4179T:p.S1393S NA NA 7p22.2 NA NA NA NA rs13224870 0.24 0.24 0.233 0.244808 0.3907 0.0992 0.3084 0.1067 0.3865 0.39 0.09 0.34 0.11 0.3703 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.724295 NA NA 0.406279 0.141625 NA 0.268 NA 4.4993876 1210 4 47527537 47527537 T G intronic ATP10D NA NA NA intronic ENSG00000145246 NA NA NA NA NA 4p12 NA Name=GATA-2,STAT1,c-Jun,c-Fos NA NA rs6447564 0.09 0.09 0.081 0.120607 0.168 0.0228 0.1009 0.0477 0.2853 0.18 0.01 0.09 0.04 0.1551 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.129192 NA NA 0.177907 0.062642 NA 0.065 NA 4.498993 1210 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 1210 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 1210 6 57498944 57498944 G C intronic PRIM2 NA NA NA intronic ENSG00000146143 NA NA NA NA NA 6p11.2 NA Name=p300,TAL1_(SC-12984) NA NA rs3846935 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5026 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739434 NA NA NA NA NA 0.5 NA 4.4974 1210 5 68463014 68463014 G T UTR5 CCNB1 NM_031966:c.-76G>T NA NA UTR5 ENSG00000134057 ENST00000256442:c.-76G>T,ENST00000506572:c.-76G>T NA NA NA NA 5q13.2 NA Name=YY1,c-Fos,NF-YB,PAX5-N19,ELK4,Pol2(b),TBP,ZNF263,Oct-2,SP1,IRF1,Max,PAX5-C20,SETDB1,Sin3Ak-20,Pol2-4H8,RFX5_(N-494),IRF3,TAF1,HEY1,NF-YA,CHD2_(N-1250),HA-E2F1,Pol2,Pol2(phosphoS2),POU2F2,GTF2B NA NA rs164390 0.44 0.44 0.435 0.48143 0.4145 0.4613 0.4611 0.4879 0.5767 0.41 0.5 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 0.451455 NA NA 0.421747 0.438584 NA 0.435 NA 4.4970864 1210 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 1210 14 77703057 77703057 A G exonic TMEM63C NA synonymous SNV TMEM63C:NM_020431:exon9:c.A633G:p.A211A exonic ENSG00000165548 NA synonymous SNV ENSG00000165548:ENST00000298351:exon9:c.A633G:p.A211A NA NA 14q24.3 NA Name=ZNF263 NA NA rs403291 0.79 0.79 0.81 0.802516 0.7048 0.9256 0.683 0.8782 0.7587 0.69 0.92 0.65 0.88 0.7447 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 -1.153802 NA NA 0.720694 0.869533 NA 0.812 NA 4.4964726 1210 3 133329943 133329943 G A exonic TOPBP1 NA synonymous SNV TOPBP1:NM_007027:exon25:c.C4078T:p.L1360L exonic ENSG00000163781 NA synonymous SNV ENSG00000163781:ENST00000260810:exon25:c.C4078T:p.L1360L Score=573;Name=lod=283 NA 3q22.1 NA NA NA NA rs1444601 0.7 0.7 0.709 0.682109 0.7465 0.626 0.634 0.7829 0.5716 0.75 0.64 0.62 0.77 0.6905 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 0.819021 NA NA 0.733333 0.776211 NA 0.623 NA 4.4963336 1210 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 1210 13 114780638 114780638 G C intronic RASA3 NA NA NA intronic ENSG00000185989 NA NA NA NA NA 13q34 NA Name=CTCF,Rad21 NA NA rs2274720 0.19 0.19 0.188 0.216653 0.172 0.1984 0.1124 0.3079 0.2321 0.17 0.19 0.13 0.28 0.1691 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052185 NA NA 0.163061 0.267817 NA 0.138 NA 4.495839 1210 3 148786108 148786108 C T exonic HLTF NA synonymous SNV HLTF:NM_003071:exon8:c.G909A:p.T303T,HLTF:NM_139048:exon8:c.G909A:p.T303T exonic ENSG00000071794 NA synonymous SNV ENSG00000071794:ENST00000310053:exon8:c.G909A:p.T303T,ENSG00000071794:ENST00000392912:exon8:c.G909A:p.T303T,ENSG00000071794:ENST00000465259:exon8:c.G909A:p.T303T,ENSG00000071794:ENST00000494055:exon8:c.G909A:p.T303T Score=559;Name=lod=250 NA 3q24 NA NA NA NA rs812249 0.77 0.77 0.767 0.742412 0.7425 0.7113 0.8055 0.8707 0.5562 0.73 0.71 0.8 0.88 0.7161 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 0.746058 NA NA 0.712326 0.831366 ID=COSM1130320;OCCURENCE=1(prostate) 0.717 NA 4.4957406 1210 5 1479678 1479678 G C intronic LPCAT1 NA NA NA intronic ENSG00000153395 NA NA NA NA NA 5p15.33 NA Name=CTCF,BAF155 Name=121 NA rs27059 0.81 0.81 0.808 0.807308 0.7614 0.8661 0.768 0.8752 0.7301 0.75 0.86 0.78 0.84 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 -0.315066 NA NA 0.742929 0.830925 NA 0.833 NA 4.495671 1210 9 115950778 115950778 C T intronic FKBP15 NA NA NA intronic ENSG00000119321 NA NA NA NA NA 9q32 NA NA Name=48 NA rs10513188 0.1 0.1 0.095 0.0866613 0.1779 0.0546 0.085 0.0204 0.1166 0.19 0.07 0.11 0.01 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 -1.13563 NA NA 0.172784 0.036847 NA 0.13 NA 4.495016 1211 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 1211 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 1211 1 67000103 67000103 A G intronic SGIP1 NA NA NA intronic ENSG00000118473 NA NA NA NA NA 1p31.3 NA NA Name=7 NA rs1445578 0.18 0.18 0.156 0.176917 0.1531 0.3294 0.1772 0.0946 0.1554 0.16 0.33 0.14 0.08 0.1892 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.47165 NA NA 0.165006 0.107762 NA 0.138 NA 4.492694 1211 17 60813627 60813627 G A exonic MARCH10 NA synonymous SNV MARCH10:NM_001100875:exon6:c.C1602T:p.N534N,MARCH10:NM_152598:exon6:c.C1602T:p.N534N exonic ENSG00000173838 NA synonymous SNV ENSG00000173838:ENST00000580520:exon2:c.C1206T:p.N402N,ENSG00000173838:ENST00000311269:exon6:c.C1602T:p.N534N,ENSG00000173838:ENST00000456609:exon6:c.C1602T:p.N534N,ENSG00000173838:ENST00000544856:exon7:c.C1599T:p.N533N,ENSG00000173838:ENST00000583600:exon7:c.C1716T:p.N572N NA NA 17q23.2 NA NA NA NA rs2041283 0.3 0.3 0.265 0.271366 0.4215 0.2083 0.3876 0.1309 0.2894 0.43 0.2 0.41 0.13 0.3589 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.661765 NA NA 0.393837 0.186337 NA 0.217 NA 4.4924296 1211 8 73850203 73850203 G A exonic KCNB2 NA synonymous SNV KCNB2:NM_004770:exon3:c.G2613A:p.V871V exonic ENSG00000182674 NA synonymous SNV ENSG00000182674:ENST00000523207:exon3:c.G2613A:p.V871V NA NA 8q13.3 NA NA NA NA rs11782118 0.27 0.27 0.247 0.236222 0.4314 0.0942 0.2767 0.1989 0.2035 0.42 0.09 0.34 0.2 0.3309 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.686533 NA NA 0.411977 0.229914 NA 0.239 NA 4.4923896 1211 10 134912314 134912314 G A intronic GPR123 NA NA NA intronic ENSG00000197177 NA NA NA NA NA 10q26.3 NA Name=Max,CTCF NA NA rs11101916 0.12 0.12 0.103 0.113419 0.1759 0.0952 0.1225 0.0756 0.1125 0.17 0.07 0.16 0.07 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 0.509568 NA NA 0.181395 0.08148 NA 0.181 NA 4.491805 1211 20 61912715 61912715 T C intronic ARFGAP1 NA NA NA intronic ENSG00000101199 NA NA NA NA NA 20q13.33 NA Name=ZNF263,Rad21,GABP,CTCF Name=12 NA rs2236195 0.42 0.42 0.369 0.397764 0.5239 0.372 0.5533 0.2753 0.3497 0.53 0.34 0.55 0.27 0.5051 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.391158 NA NA 0.479599 0.300867 NA 0.413 NA 4.491401 1211 16 57689883 57689883 T C exonic GPR56 NA synonymous SNV GPR56:NM_001145773:exon7:c.T1011C:p.T337T,GPR56:NM_201525:exon7:c.T996C:p.T332T,GPR56:NM_001145770:exon8:c.T996C:p.T332T,GPR56:NM_001145771:exon8:c.T996C:p.T332T,GPR56:NM_001145772:exon8:c.T996C:p.T332T,GPR56:NM_001145774:exon8:c.T996C:p.T332T,GPR56:NM_005682:exon8:c.T996C:p.T332T,GPR56:NM_201524:exon8:c.T996C:p.T332T exonic ENSG00000205336 NA synonymous SNV ENSG00000205336:ENST00000379694:exon6:c.T486C:p.T162T,ENSG00000205336:ENST00000379696:exon7:c.T996C:p.T332T,ENSG00000205336:ENST00000388812:exon7:c.T996C:p.T332T,ENSG00000205336:ENST00000456916:exon7:c.T996C:p.T332T,ENSG00000205336:ENST00000544297:exon7:c.T471C:p.T157T,ENSG00000205336:ENST00000562631:exon7:c.T996C:p.T332T,ENSG00000205336:ENST00000568909:exon7:c.T996C:p.T332T,ENSG00000205336:ENST00000388813:exon8:c.T996C:p.T332T,ENSG00000205336:ENST00000538815:exon8:c.T996C:p.T332T,ENSG00000205336:ENST00000540164:exon8:c.T996C:p.T332T,ENSG00000205336:ENST00000562558:exon8:c.T996C:p.T332T,ENSG00000205336:ENST00000567835:exon8:c.T996C:p.T332T,ENSG00000205336:ENST00000568908:exon8:c.T996C:p.T332T Score=467;Name=lod=105 NA 16q21 NA NA NA NA rs1376041 0.8 0.8 0.777 0.816693 0.7137 0.7956 0.8631 0.9826 0.6871 0.68 0.8 0.82 0.97 0.7566 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 0.883906 NA NA 0.70593 0.938126 ID=COSM435430;OCCURENCE=1(breast) 0.797 NA 4.4904366 1211 15 27017536 27017536 G A intronic GABRB3 NA NA NA intronic ENSG00000166206 NA NA NA NA NA 15q12 NA NA Name=3 NA rs8179186 0.2 0.2 0.163 0.186901 0.1501 0.3065 0.3184 0.0061 0.2526 0.17 0.33 0.29 0.01 0.2221 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059624 NA NA 0.137442 0.031862 NA NA NA 4.490358 1211 13 115010330 115010330 G T intronic CDC16 NA NA NA intronic ENSG00000130177 NA NA NA NA NA 13q34 NA Name=CTCF NA NA rs2039092 0.25 0.25 0.25 0.292332 0.167 0.1071 0.2262 0.6082 0.2321 0.16 0.12 0.2 0.57 0.1959 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494725 NA NA 0.147209 0.534725 NA 0.254 NA 4.489891 1211 3 46449978 46449978 A C exonic CCRL2 NA synonymous SNV CCRL2:NM_001130910:exon2:c.A444C:p.G148G,CCRL2:NM_003965:exon2:c.A408C:p.G136G exonic ENSG00000121797 NA synonymous SNV ENSG00000121797:ENST00000400882:exon1:c.A408C:p.G136G,ENSG00000121797:ENST00000357392:exon2:c.A444C:p.G148G,ENSG00000121797:ENST00000399036:exon2:c.A408C:p.G136G,ENSG00000121797:ENST00000400880:exon2:c.A408C:p.G136G,ENSG00000121797:ENST00000433848:exon3:c.A408C:p.G136G NA NA 3p21.31 NA NA NA NA rs11266744 0.36 0.36 0.346 0.33766 0.4026 0.5605 0.3703 0.0477 0.41 0.4 0.53 0.38 0.07 0.3794 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244696 NA NA 0.39536 0.086543 NA 0.275 NA 4.4893066 1211 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 1211 X 55287031 55287031 T G ncRNA_exonic PAGE3 NA NA NA exonic ENSG00000204279 NA synonymous SNV ENSG00000204279:ENST00000374951:exon4:c.A255C:p.G85G,ENSG00000204279:ENST00000519203:exon4:c.A255C:p.G85G NA NA Xp11.21 NA NA NA NA rs3761560 0.32 0.32 0.2806 NA NA NA NA NA NA 0.3 0.35 0.45 0.21 0.357 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.543531 NA NA 0.320398 0.203129 NA 0.21 NA 4.4892686 1211 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 1211 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$TAL1BETAITF2_01 NA NA NA rs1129880 0.79 0.79 0.787 0.844649 0.6998 0.869 0.8127 0.9002 0.9162 0.7 0.86 0.77 0.88 0.7746 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.705104 NA NA 0.704281 0.862108 NA 0.848 NA 4.4879856 1211 19 18273047 18273047 T C exonic PIK3R2 NA nonsynonymous SNV PIK3R2:NM_005027:exon8:c.T937C:p.S313P exonic ENSG00000105647,ENSG00000268173 NA nonsynonymous SNV ENSG00000105647:ENST00000426902:exon7:c.T937C:p.S313P,ENSG00000105647:ENST00000222254:exon8:c.T937C:p.S313P,ENSG00000268173:ENST00000593731:exon8:c.T937C:p.S313P NA NA 19p13.11 NA NA NA NA rs1011320 0.96 0.96 0.967 0.953474 0.9473 0.9633 0.9597 0.9697 0.9233 0.95 0.97 0.95 0.96 0.9501 0.97 0.56 T 0.0 B 0.0 B 0.041 N 1.000 P -0.805 N 0.88 T -1.020 T 0.000 T 0.049 -2.068 0.006 -1.99 -0.251 -0.029 7.151 -2.068096 NA 1 0.948115 0.968892 NA 0.957 NA 4.4878184 1211 11 32874926 32874926 G A exonic PRRG4 NA synonymous SNV PRRG4:NM_024081:exon6:c.G534A:p.P178P exonic ENSG00000135378 NA synonymous SNV ENSG00000135378:ENST00000257836:exon6:c.G534A:p.P178P NA NA 11p13 NA NA NA NA rs11032025 0.42 0.42 0.422 0.405351 0.3986 0.4127 0.4841 0.3464 0.4284 0.39 0.42 0.5 0.43 0.4 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.338412 NA NA 0.381135 0.37307 ID=COSM1353552;OCCURENCE=1(large_intestine) 0.362 NA 4.4869316 1211 19 38706989 38706989 G A intronic DPF1 NA NA NA intronic ENSG00000011332 NA NA NA Score=557;Name=lod=245 NA 19q13.2 Score=968;Name=V$AREB6_01 NA NA NA rs2278431 0.61 0.61 0.627 0.640176 0.4851 0.7927 0.6167 0.7095 0.5654 0.49 0.78 0.57 0.64 0.5532 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 -0.267707 NA NA 0.475 0.654789 NA 0.681 NA 4.4867 1211 11 57137371 57137371 G A exonic P2RX3 NA synonymous SNV P2RX3:NM_002559:exon12:c.G1095A:p.T365T exonic ENSG00000109991 NA synonymous SNV ENSG00000109991:ENST00000263314:exon12:c.G1095A:p.T365T NA NA 11q12.1 NA NA NA NA rs2276039 0.4 0.4 0.344 0.411342 0.3847 0.6319 0.4813 0.0756 0.6155 0.4 0.63 0.43 0.1 0.423 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.243909 NA NA 0.372439 0.129941 ID=COSM1178422;OCCURENCE=1(prostate) 0.333 NA 4.4865276 1211 11 113113515 113113515 G A intronic NCAM1 NA NA NA intronic ENSG00000149294 NA NA NA Score=493;Name=lod=135 NA 11q23.2 Score=887;Name=V$RFX1_02 NA Name=76 NA rs635596 0.82 0.82 0.804 0.820487 0.837 0.8383 0.8357 0.7171 0.9141 0.83 0.85 0.85 0.76 0.8376 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 1.102785 NA NA 0.839607 0.753122 NA 0.819 NA 4.485793 1211 3 133343050 133343050 C A intronic TOPBP1 NA NA NA intronic ENSG00000163781 NA NA NA Score=304;Name=lod=23 NA 3q22.1 NA NA NA NA rs11715407 0.11 0.11 0.09 0.0816693 0.1829 0.001 0.1225 0.0681 0.0501 0.18 0.0017 0.15 0.07 0.1408 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 0.578988 NA NA 0.190971 0.071429 NA 0.08 NA 4.485329 1212 7 134250322 134250322 A C intronic AKR1B15 NA NA NA intronic ENSG00000227471 NA NA NA NA Name=Longevity 7q33 NA Name=STAT3 NA NA rs4732038 0.52 0.52 0.511 0.503594 0.5 0.4742 0.4928 0.584 0.4366 0.5 0.49 0.5 0.6 0.5103 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.408998 NA NA 0.504884 0.562415 NA 0.565 NA 4.484816 1212 19 3157885 3157885 T C intronic GNA15 NA NA NA intronic ENSG00000060558 NA NA NA Score=558;Name=lod=246 NA 19p13.3 NA NA NA NA rs61758985 0.14 0.14 0.136 0.136382 0.1899 0.0079 0.1009 0.2337 0.1074 0.19 0.01 0.11 0.25 0.1508 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044949 NA NA 0.174535 0.198139 NA NA NA 4.484765 1212 2 241536053 241536053 C T intronic CAPN10 NA NA NA intronic ENSG00000142330 NA NA NA NA NA 2q37.3 NA NA Name=2 NA rs2953171 0.2 0.2 0.159 0.200479 0.167 0.3016 0.2752 0.0946 0.2209 0.19 0.31 0.22 0.08 0.189 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.378804 NA NA 0.159557 0.110639 NA 0.232 NA 4.484443 1212 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 1212 3 105422844 105422844 C T exonic CBLB NA synonymous SNV CBLB:NM_170662:exon11:c.G1581A:p.T527T exonic ENSG00000114423 NA synonymous SNV ENSG00000114423:ENST00000264122:exon11:c.G1581A:p.T527T,ENSG00000114423:ENST00000394027:exon11:c.G1647A:p.T549T,ENSG00000114423:ENST00000403724:exon11:c.G1581A:p.T527T,ENSG00000114423:ENST00000405772:exon11:c.G1581A:p.T527T Score=537;Name=lod=203 NA 3q13.11 NA NA NA NA rs2305037 0.72 0.72 0.728 0.750998 0.7187 0.7788 0.6844 0.7345 0.8252 0.7 0.77 0.72 0.72 0.7307 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 0.804138 NA NA 0.733372 0.743759 NA 0.717 NA 4.4838946 1212 2 54882381 54882381 G A intronic SPTBN1 NA NA NA intronic ENSG00000115306 NA NA NA NA NA 2p16.2 NA NA Name=19 NA rs2271329 0.13 0.13 0.134 0.13758 0.1759 0.0893 0.098 0.146 0.1646 0.16 0.1 0.11 0.13 0.1566 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 0.450318 NA NA 0.185581 0.136405 NA 0.254 NA 4.481919 1212 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 1212 15 72191073 72191073 T C exonic MYO9A NA synonymous SNV MYO9A:NM_006901:exon25:c.A3771G:p.R1257R exonic ENSG00000066933 NA synonymous SNV ENSG00000066933:ENST00000566885:exon23:c.A2631G:p.R877R,ENSG00000066933:ENST00000444904:exon24:c.A3714G:p.R1238R,ENSG00000066933:ENST00000356056:exon25:c.A3771G:p.R1257R,ENSG00000066933:ENST00000424560:exon25:c.A3771G:p.R1257R,ENSG00000066933:ENST00000564571:exon25:c.A3771G:p.R1257R Score=522;Name=lod=176 NA 15q23 NA NA NA NA rs2415128 0.58 0.58 0.585 0.592851 0.7614 0.3849 0.6326 0.5204 0.7035 0.76 0.39 0.67 0.48 0.6901 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 0.704801 NA NA 0.733768 0.574579 NA 0.667 NA 4.4813986 1212 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 1212 1 175299301 175299301 T C exonic TNR NA synonymous SNV TNR:NM_003285:exon21:c.A3702G:p.Q1234Q exonic ENSG00000116147 NA synonymous SNV ENSG00000116147:ENST00000367674:exon21:c.A3702G:p.Q1234Q,ENSG00000116147:ENST00000263525:exon22:c.A3702G:p.Q1234Q Score=497;Name=lod=139 NA 1q25.1 NA NA NA NA rs2027867 0.79 0.79 0.787 0.765974 0.7187 0.7887 0.7637 0.8419 0.6902 0.73 0.83 0.76 0.86 0.7452 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 -0.623958 NA NA 0.722791 0.806173 NA 0.775 NA 4.4799756 1212 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 1212 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 1212 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 1212 11 118110977 118110977 T C exonic MPZL3 NA synonymous SNV MPZL3:NM_198275:exon2:c.A189G:p.K63K exonic ENSG00000160588 NA synonymous SNV ENSG00000160588:ENST00000278949:exon2:c.A189G:p.K63K,ENSG00000160588:ENST00000446386:exon2:c.A189G:p.K63K,ENSG00000160588:ENST00000527472:exon2:c.A153G:p.K51K Score=441;Name=lod=83 NA 11q23.3 NA NA NA NA rs2853006 0.76 0.76 0.782 0.792133 0.7117 0.6806 0.7666 0.9236 0.8303 0.71 0.72 0.75 0.91 0.747 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 -0.421722 NA NA 0.729283 0.894091 ID=COSM147334;OCCURENCE=1(stomach) 0.833 NA 4.4786836 1212 14 22555013 22555013 T C intergenic OR4E2,DAD1 dist=420775;dist=478794 NA NA exonic ENSG00000211803 NA nonsynonymous SNV ENSG00000211803:ENST00000390451:exon2:c.T139C:p.S47P NA NA 14q11.2 NA NA NA NA rs2272549 0.16 0.16 0.137 0.172724 0.0974 0.3234 0.2248 0.0635 0.2055 0.1 0.31 0.18 0.07 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 1.743764 1.743764 0.05 0.103751 0.063534 NA 0.13 NA 4.4786824 1212 15 100794363 100794363 C T exonic ADAMTS17 NA synonymous SNV ADAMTS17:NM_139057:exon7:c.G1053A:p.K351K exonic ENSG00000140470 NA synonymous SNV ENSG00000140470:ENST00000268070:exon7:c.G1053A:p.K351K Score=515;Name=lod=165 NA 15q26.3 NA NA NA NA rs4369638 0.79 0.79 0.794 0.821486 0.7276 0.8829 0.7637 0.8555 0.8497 0.71 0.88 0.72 0.84 0.7556 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 0.929266 NA NA 0.705116 0.823877 NA 0.812 NA 4.4783506 1212 17 8219478 8219478 A G intronic ARHGEF15 NA NA NA intronic ENSG00000198844 NA NA NA NA NA 17p13.1 NA Name=TBP Name=4 NA rs2270445 0.63 0.63 0.636 0.629792 0.4692 0.744 0.6758 0.7776 0.4448 0.46 0.74 0.63 0.77 0.5551 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 0.794996 NA NA 0.497744 0.725836 NA 0.558 NA 4.477956 1212 19 17389648 17389648 C T intronic BABAM1 NA NA NA intronic ENSG00000105393,ENSG00000130307,ENSG00000269307 NA NA NA NA NA 19p13.11 NA Name=CEBPB NA NA rs10406920 0.11 0.11 0.12 0.111821 0.163 0.001 0.0965 0.1831 0.0879 0.16 0.0017 0.1 0.17 0.1798 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.838586 NA NA 0.179917 0.174987 NA 0.167 NA 4.477283 1212 17 1840468 1840468 C T exonic RTN4RL1 NA synonymous SNV RTN4RL1:NM_178568:exon2:c.G648A:p.A216A exonic ENSG00000185924 NA synonymous SNV ENSG00000185924:ENST00000331238:exon2:c.G648A:p.A216A Score=407;Name=lod=60 NA 17p13.3 NA NA NA NA rs9903800 0.71 0.71 0.728 0.679113 0.7545 0.6558 0.6599 0.7284 0.5726 0.76 0.62 0.67 0.75 0.6967 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 0.244916 NA NA 0.738414 0.759814 NA 0.717 NA 4.4770526 1212 21 26978950 26978950 A G exonic MRPL39 NA nonsynonymous SNV MRPL39:NM_017446:exon2:c.T91C:p.S31P,MRPL39:NM_080794:exon2:c.T91C:p.S31P exonic ENSG00000154719 NA nonsynonymous SNV ENSG00000154719:ENST00000307301:exon2:c.T91C:p.S31P,ENSG00000154719:ENST00000352957:exon2:c.T91C:p.S31P,ENSG00000154719:ENST00000419219:exon2:c.T91C:p.S31P NA NA 21q21.3 NA NA NA NA rs3989369 0.91 0.91 0.899 0.907947 0.9523 0.9524 0.9568 0.761 0.9806 0.96 0.97 0.94 0.75 0.9461 0.97 1 T 0.001 B 0.002 B 0.041 N 1.000 P -0.74 N 1.01 T -0.969 T 0.000 T 0.144 -1.351 0.028 1.36 -0.136 0.147 2.414 -1.351456 NA 1 0.958023 0.797549 NA 0.92 NA 4.4769104 1212 7 64453136 64453136 G A exonic ERV3-1 NA nonsynonymous SNV ERV3-1:NM_001007253:exon2:c.C269T:p.T90I exonic ENSG00000213462 NA nonsynonymous SNV ENSG00000213462:ENST00000394323:exon2:c.C269T:p.T90I Score=309;Name=lod=24 NA 7q11.21 NA NA NA NA rs6460219 0.89 0.89 0.891 0.892572 0.9652 0.873 0.9452 0.7663 0.9714 0.96 0.88 0.95 0.76 0.9363 0.96 0.45 T 0.01 B 0.001 B . . 0.000 P 0 N 2.68 T -1.044 T 0.000 T 0.028 1.133 9.618 0.109 0.181 0.230 . 1.133002 NA 0.3 0.955144 0.827108 NA 0.92 NA 4.4766894 1212 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 1212 22 44282307 44282307 G A exonic PNPLA5 NA synonymous SNV PNPLA5:NM_001177675:exon4:c.C483T:p.D161D,PNPLA5:NM_138814:exon6:c.C825T:p.D275D exonic ENSG00000100341 NA synonymous SNV ENSG00000100341:ENST00000381198:exon4:c.C483T:p.D161D,ENSG00000100341:ENST00000438734:exon4:c.C549T:p.D183D,ENSG00000100341:ENST00000593866:exon4:c.C483T:p.D161D,ENSG00000100341:ENST00000216177:exon6:c.C825T:p.D275D,ENSG00000100341:ENST00000597664:exon6:c.C825T:p.D275D NA NA 22q13.31 NA NA NA NA rs739232 0.48 0.48 0.489 0.496406 0.3748 0.9048 0.4568 0.2224 0.5992 0.38 0.89 0.43 0.21 0.4432 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 -0.049181 NA NA 0.373023 0.249433 NA 0.377 NA 4.4756436 1212 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 1213 12 113376320 113376320 C T UTR5 OAS3 NM_006187:c.-16C>T NA NA ncRNA_UTR5 ENSG00000111331 NA NA NA NA NA 12q24.13 NA Name=Pol2,HA-E2F1,E2F6_(H-50),E2F6,IRF4_(M-17),HMGN3,Pol2-4H8,STAT1,YY1_(C-20),E2F4,Sin3Ak-20,CCNT2,SUZ12,STAT2 Name=141 NA rs3815178 0.77 0.77 0.755 0.786342 0.6352 0.749 0.7738 0.9887 0.7157 0.65 0.78 0.75 0.98 0.7144 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 -0.746214 NA NA 0.675651 0.937718 NA 0.696 NA 4.474749 1213 17 74639530 74639530 T C intronic ST6GALNAC1 NA NA NA intronic ENSG00000070526 NA NA NA NA NA 17q25.1 NA Name=AP-2alpha NA NA rs719430 0.34 0.34 0.323 0.311102 0.5258 0.2688 0.3588 0.0802 0.4121 0.51 0.28 0.38 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 -0.009307 NA NA NA NA NA 0.362 NA 4.4742 1213 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 1213 2 74466594 74466594 G A exonic SLC4A5 NA synonymous SNV SLC4A5:NM_021196:exon16:c.C2187T:p.G729G,SLC4A5:NM_133478:exon21:c.C2187T:p.G729G exonic ENSG00000188687 NA synonymous SNV ENSG00000188687:ENST00000357822:exon16:c.C2187T:p.G729G,ENSG00000188687:ENST00000358683:exon16:c.C1995T:p.G665G,ENSG00000188687:ENST00000377632:exon16:c.C2187T:p.G729G,ENSG00000188687:ENST00000425249:exon18:c.C2187T:p.G729G,ENSG00000188687:ENST00000359484:exon20:c.C1995T:p.G665G,ENSG00000188687:ENST00000346834:exon21:c.C2187T:p.G729G,ENSG00000188687:ENST00000377634:exon21:c.C2187T:p.G729G,ENSG00000188687:ENST00000394019:exon21:c.C2187T:p.G729G,ENSG00000188687:ENST00000423644:exon21:c.C2187T:p.G729G NA NA 2p13.1 NA NA NA NA rs4853018 0.28 0.28 0.267 0.226637 0.4304 0.1954 0.2291 0.1384 0.1667 0.44 0.19 0.26 0.16 0.3413 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.915858 NA NA 0.42093 0.19882 ID=COSM1409511,COSM1409512;OCCURENCE=1(large_intestine) 0.341 NA 4.4740366 1213 18 74611127 74611127 A G exonic ZNF236 NA nonsynonymous SNV ZNF236:NM_007345:exon11:c.A1837G:p.I613V exonic ENSG00000130856 NA nonsynonymous SNV ENSG00000130856:ENST00000253159:exon11:c.A1837G:p.I613V,ENSG00000130856:ENST00000320610:exon11:c.A1843G:p.I615V,ENSG00000130856:ENST00000543926:exon11:c.A1837G:p.I613V NA NA 18q23 NA NA NA NA rs608433 0.93 0.93 0.917 0.917732 0.9543 0.8631 0.9654 0.9304 0.8855 0.96 0.9 0.96 0.88 0.9463 0.96 1 T 0.0 B 0.0 B 0.103 N 1.000 P -0.55 N 3.15 T -0.995 T 0.000 T 0.028 -1.9 0.008 1.27 -0.281 0.620 6.162 -1.900209 NA 1 0.958982 0.915966 NA 0.928 NA 4.4737514 1213 1 204915904 204915904 A G intronic NFASC NA NA NA ncRNA_exonic ENSG00000229657 NA NA NA Score=715;Name=lod=1074 NA 1q32.1 NA NA NA NA rs2449484 0.67 0.67 0.646 0.665335 0.8598 0.4187 0.5951 0.733 0.6779 0.85 0.35 0.69 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 -0.057476 NA NA NA NA NA 0.761 NA 4.4735333 1213 7 76024520 76024520 C T intronic SRCRB4D NA NA NA intronic ENSG00000146700 NA NA NA NA NA 7q11.23 NA NA Name=16 NA rs2286427 0.14 0.14 0.151 0.13758 0.166 0.0496 0.0994 0.2088 0.1299 0.18 0.06 0.11 0.22 0.1639 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313001 NA NA 0.196744 0.20404 NA 0.203 NA 4.473356 1213 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 1213 6 27792228 27792228 T C UTR3 HIST1H4J NM_021968:c.*14T>C NA NA UTR3 ENSG00000197238 ENST00000355057:c.*14T>C NA NA NA NA 6p22.1 NA Name=TAF7_(SQ-8),Pol2,HA-E2F1,HEY1,Pol2-4H8 Name=147 NA rs200498 0.93 0.93 0.96 0.947085 0.9235 0.9345 0.9121 0.9962 0.9427 0.91 0.92 0.93 0.99 0.9367 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 -0.151984 NA NA NA NA NA 0.978 NA 4.4731334 1213 14 93170741 93170741 T C intronic LGMN NA NA NA intronic ENSG00000100600 NA NA NA NA NA 14q32.12 NA Name=NFKB,Max,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 1213 19 46026970 46026970 T A intronic VASP NA NA NA intronic ENSG00000125753 NA NA NA NA NA 19q13.32 NA Name=Egr-1,PU.1,BCL3,NFKB,IRF4_(M-17),Pol2-4H8,ELF1_(SC-631),BCLAF1_(M33-P5B11),CTCF 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 1213 13 25008630 25008630 A G exonic PARP4 NA nonsynonymous SNV PARP4:NM_006437:exon31:c.T4649C:p.L1550P exonic ENSG00000102699 NA nonsynonymous SNV ENSG00000102699:ENST00000381989:exon31:c.T4649C:p.L1550P NA NA 13q12.12 NA NA NA NA rs1822135 0.94 0.94 0.936 0.942692 0.9513 0.9931 0.9654 0.8699 0.9642 0.96 0.99 0.97 0.83 0.9551 0.99 0.62 T 0.0 B 0.0 B 0.333 U 1.000 P -1.1 N 4.62 T -1.066 T 0.000 T 0.014 -0.226 2.91 -0.141 0.049 -0.655 5.110 -0.225647 NA 0.09 0.955116 0.884703 NA 0.906 NA 4.4718174 1213 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 1213 1 153431406 153431406 C G exonic S100A7 NA nonsynonymous SNV S100A7:NM_002963:exon2:c.G84C:p.E28D exonic ENSG00000143556 NA nonsynonymous SNV ENSG00000143556:ENST00000368722:exon2:c.G84C:p.E28D,ENSG00000143556:ENST00000368723:exon2:c.G84C:p.E28D NA NA 1q21.3 NA NA NA NA rs3014837 0.98 0.98 0.98 0.983427 0.9573 1 0.9856 0.9879 0.9857 0.96 1 0.98 0.99 0.9609 1 1 T 0.0 B 0.0 B . . 1.000 P -0.6 N 3.5 T -0.921 T 0.002 T 0.019 -1.372 0.026 -0.422 -0.419 0.243 9.678 -1.372101 NA 1 0.943953 0.985247 NA 0.92 NA 4.4711804 1213 1 109897103 109897103 A G exonic SORT1 NA synonymous SNV SORT1:NM_001205228:exon5:c.T186C:p.F62F,SORT1:NM_002959:exon5:c.T594C:p.F198F exonic ENSG00000134243 NA synonymous SNV ENSG00000134243:ENST00000256637:exon5:c.T594C:p.F198F,ENSG00000134243:ENST00000538502:exon5:c.T186C:p.F62F Score=628;Name=lod=475 NA 1p13.3 NA NA NA NA rs11142 0.78 0.78 0.764 0.776358 0.7147 0.9563 0.853 0.6884 0.7188 0.7 0.96 0.86 0.65 0.7532 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 1.486746 1.486746 NA 0.727791 0.668407 ID=COSM1332444;OCCURENCE=1(large_intestine) 0.79 NA 4.4709756 1213 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 1213 9 134183503 134183503 T C exonic PPAPDC3 NA synonymous SNV PPAPDC3:NM_032728:exon2:c.T645C:p.R215R exonic ENSG00000160539 NA synonymous SNV ENSG00000160539:ENST00000372264:exon2:c.T645C:p.R215R NA NA 9q34.13 Score=721;Name=V$NRSF_01 NA NA NA rs2986606 0.65 0.65 0.615 0.635383 0.7416 0.7312 0.6513 0.4448 0.6738 0.73 0.72 0.67 0.44 0.7011 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 1.114191 NA NA 0.753723 0.500454 NA 0.616 NA 4.4702436 1213 2 29169612 29169612 T C exonic WDR43 NA synonymous SNV WDR43:NM_015131:exon18:c.T2001C:p.D667D exonic ENSG00000163811 NA synonymous SNV ENSG00000163811:ENST00000407426:exon18:c.T2001C:p.D667D Score=558;Name=lod=247 NA 2p23.2 NA NA NA NA rs3087649 0.75 0.75 0.735 0.755192 0.7068 0.8601 0.7911 0.7065 0.7372 0.7 0.87 0.76 0.71 0.7675 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 0.388511 NA NA 0.723123 0.726684 NA 0.652 NA 4.4692436 1213 5 114462355 114462355 C T exonic TRIM36 NA nonsynonymous SNV TRIM36:NM_018700:exon10:c.G2032A:p.D678N exonic ENSG00000152503 NA nonsynonymous SNV ENSG00000152503:ENST00000514154:exon9:c.G1567A:p.D523N,ENSG00000152503:ENST00000282369:exon10:c.G2032A:p.D678N,ENSG00000152503:ENST00000513154:exon10:c.G1996A:p.D666N NA NA 5q22.3 NA NA NA NA rs2974617 0.94 0.94 0.934 0.937101 0.9622 0.9256 0.964 0.8707 0.9939 0.96 0.93 0.97 0.9 0.9495 0.97 0.06 T 0.0 B 0.001 B 0.024 N 1.000 P 0 N 0.23 T -1.006 T 0.000 T 0.046 1.059 9.325 1.04 -0.264 0.829 11.233 1.059023 NA 0.68 0.952791 0.884196 ID=COSM1178499;OCCURENCE=1(prostate) 0.92 NA 4.4688424 1213 8 61193522 61193522 A G intronic CA8 NA NA NA intronic ENSG00000178538 NA NA NA NA NA 8q12.1 NA Name=ZBTB7A_(SC-34508),E2F6 NA NA rs7002871 0.58 0.58 0.528 0.626398 0.5318 0.4782 0.536 0.8563 0.6299 0.52 0.46 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 0.395863 NA NA NA NA NA 0.036 NA 4.4682 1213 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 1213 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 1213 17 77758484 77758484 G A exonic CBX2 NA synonymous SNV CBX2:NM_005189:exon5:c.G1242A:p.L414L exonic ENSG00000173894 NA synonymous SNV ENSG00000173894:ENST00000310942:exon5:c.G1242A:p.L414L NA NA 17q25.3 NA NA NA NA rs3751956 0.23 0.23 0.244 0.204473 0.4443 0.1806 0.2334 0.0287 0.1994 0.38 0.19 0.25 0.04 0.3403 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388082 NA NA 0.414767 0.088142 ID=COSM437706;OCCURENCE=2(breast) 0.283 NA 4.4672996 1213 5 156786168 156786168 C A intronic CYFIP2 NA NA NA intronic ENSG00000055163 NA NA NA NA NA 5q33.3 NA Name=eGFP-GATA2 NA NA rs2289851 0.23 0.23 0.237 0.265974 0.171 0.3016 0.1499 0.3313 0.3211 0.18 0.28 0.12 0.34 0.2023 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.846739 1.846739 NA 0.159483 0.288336 NA 0.196 NA 4.467217 1213 2 241827676 241827676 G A intronic C2orf54 NA NA NA intronic ENSG00000172478 NA NA NA NA NA 2q37.3 NA Name=ERalpha_a NA NA rs34927891 0.11 0.11 0.102 0.0872604 0.2018 NA 0.1369 0.0582 0.0634 0.21 NA 0.16 0.07 0.1597 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.192116 NA NA 0.172055 0.065789 NA 0.072 NA 4.466445 1213 4 102751276 102751276 C T exonic BANK1 NA synonymous SNV BANK1:NM_001083907:exon2:c.C292T:p.L98L,BANK1:NM_017935:exon2:c.C382T:p.L128L exonic ENSG00000153064 NA synonymous SNV ENSG00000153064:ENST00000322953:exon2:c.C382T:p.L128L,ENSG00000153064:ENST00000444316:exon2:c.C292T:p.L98L,ENSG00000153064:ENST00000504592:exon6:c.C337T:p.L113L NA NA 4q24 NA NA NA NA rs10516486 0.48 0.48 0.469 0.540335 0.3887 0.504 0.4813 0.7564 0.4836 0.37 0.44 0.43 0.75 0.4285 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 -0.717142 NA NA 0.383605 0.6936 NA 0.471 NA 4.4658616 1213 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 1214 11 32657266 32657266 T C exonic CCDC73 NA synonymous SNV CCDC73:NM_001008391:exon14:c.A1161G:p.T387T exonic ENSG00000186714 NA synonymous SNV ENSG00000186714:ENST00000335185:exon14:c.A1161G:p.T387T NA NA 11p13 NA NA NA NA rs201854 0.62 0.62 0.595 0.633786 0.7594 0.2302 0.6282 0.792 0.7106 0.77 0.23 0.7 0.77 0.7062 0.77 . . . . . . . . 1.000 P . . . . -1.013 T 0.000 T . -1.551 0.015 -0.241 -0.407 -0.325 4.653 -1.551487 NA NA 0.736215 0.764507 ID=COSM147172;OCCURENCE=1(stomach) 0.543 NA 4.4648516 1214 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 1214 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 1214 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 1214 5 134343661 134343661 C T exonic CATSPER3 NA synonymous SNV CATSPER3:NM_178019:exon4:c.C507T:p.A169A exonic ENSG00000152705 NA synonymous SNV ENSG00000152705:ENST00000282611:exon4:c.C507T:p.A169A NA NA 5q31.1 NA NA NA NA rs10044000 0.3 0.3 0.334 0.271166 0.4254 0.2569 0.2911 0.1467 0.2812 0.41 0.27 0.31 0.15 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 -1.461939 NA NA 0.41686 0.184521 ID=COSM149912;OCCURENCE=1(stomach) 0.29 NA 4.4638066 1214 2 27861707 27861707 G A intronic GPN1 NA NA NA intronic ENSG00000198522 NA NA NA NA NA 2p23.3 NA Name=p300 Name=68 NA rs11692692 0.31 0.31 0.293 0.301318 0.5258 0.0804 0.3242 0.1384 0.502 0.54 0.08 0.39 0.16 0.4573 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349832 NA NA 0.553372 0.219473 NA 0.42 NA 4.463528 1214 8 145640411 145640411 A G exonic SLC39A4 NA nonsynonymous SNV SLC39A4:NM_017767:exon3:c.T676C:p.W226R,SLC39A4:NM_130849:exon4:c.T751C:p.W251R exonic ENSG00000147804 NA nonsynonymous SNV ENSG00000147804:ENST00000276833:exon3:c.T676C:p.W226R,ENSG00000147804:ENST00000526658:exon3:c.T469C:p.W157R,ENSG00000147804:ENST00000301305:exon4:c.T751C:p.W251R NA NA 8q24.3 NA NA NA NA rs2977838 0.96 0.96 0.979 0.984625 0.9473 1 0.9813 0.9947 0.9959 0.94 1 0.96 0.97 0.9678 1 0.41 T 0.0 B 0.0 B 0.000 N 1.000 P . . 0.73 T -0.958 T 0.000 T 0.122 -0.552 1.502 0.637 -0.103 -0.228 1.654 -0.551853 NA 0.4 0.954757 0.98956 NA 0.877 NA 4.4634764 1214 5 149583300 149583300 T C exonic SLC6A7 NA synonymous SNV SLC6A7:NM_014228:exon9:c.T1158C:p.F386F exonic ENSG00000011083 NA synonymous SNV ENSG00000011083:ENST00000230671:exon9:c.T1158C:p.F386F,ENSG00000011083:ENST00000524041:exon9:c.T1158C:p.F386F Score=557;Name=lod=245 NA 5q32 NA NA NA NA rs2240793 0.63 0.63 0.597 0.661741 0.7306 0.502 0.7695 0.6014 0.7607 0.71 0.48 0.77 0.59 0.71 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 1.068727 NA NA 0.763605 0.630731 NA 0.754 NA 4.4624616 1214 5 180374534 180374534 G A exonic BTNL8 NA synonymous SNV BTNL8:NM_001159707:exon3:c.G348A:p.S116S,BTNL8:NM_001159710:exon3:c.G144A:p.S48S,BTNL8:NM_001040462:exon4:c.G696A:p.S232S,BTNL8:NM_001159708:exon4:c.G696A:p.S232S,BTNL8:NM_001159709:exon4:c.G321A:p.S107S,BTNL8:NM_024850:exon4:c.G696A:p.S232S exonic ENSG00000113303 NA synonymous SNV ENSG00000113303:ENST00000505126:exon3:c.G75A:p.S25S,ENSG00000113303:ENST00000511704:exon3:c.G348A:p.S116S,ENSG00000113303:ENST00000533815:exon3:c.G144A:p.S48S,ENSG00000113303:ENST00000231229:exon4:c.G696A:p.S232S,ENSG00000113303:ENST00000340184:exon4:c.G696A:p.S232S,ENSG00000113303:ENST00000400707:exon4:c.G321A:p.S107S,ENSG00000113303:ENST00000508408:exon4:c.G696A:p.S232S NA NA 5q35.3 NA NA NA NA rs3733756 0.47 0.47 0.475 0.440895 0.4036 0.3462 0.4496 0.6641 0.2689 0.42 0.36 0.42 0.71 0.397 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.53282 NA NA 0.403748 0.644576 ID=COSM1132184,COSM1132185;OCCURENCE=1(prostate) 0.428 NA 4.4623186 1214 7 92970847 92970847 C T exonic CCDC132 NA synonymous SNV CCDC132:NM_017667:exon23:c.C2167T:p.L723L,CCDC132:NM_001257998:exon24:c.C2077T:p.L693L exonic ENSG00000004766 NA synonymous SNV ENSG00000004766:ENST00000535481:exon13:c.C1327T:p.L443L,ENSG00000004766:ENST00000541136:exon22:c.C1600T:p.L534L,ENSG00000004766:ENST00000305866:exon23:c.C2167T:p.L723L,ENSG00000004766:ENST00000544910:exon24:c.C2077T:p.L693L NA NA 7q21.3 NA NA NA NA rs2106432 0.59 0.59 0.601 0.603634 0.3807 0.5952 0.5144 0.9675 0.4131 0.38 0.62 0.51 0.95 0.4504 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 -0.748502 NA NA 0.373319 0.856231 NA 0.572 NA 4.4622476 1214 4 71232430 71232430 T C exonic SMR3A NA nonsynonymous SNV SMR3A:NM_012390:exon3:c.T124C:p.C42R exonic ENSG00000109208 NA nonsynonymous SNV ENSG00000109208:ENST00000226460:exon3:c.T124C:p.C42R NA NA 4q13.3 NA NA NA NA rs10024123 0.95 0.95 0.949 0.953075 0.9553 1 0.9611 0.8865 0.9867 0.95 1 0.95 0.88 0.9645 1 0.93 T 0.0 B 0.0 B . . 1.000 P 0 N 1.67 T -0.973 T 0.000 T 0.017 -0.519 1.632 0.653 -0.121 -0.444 2.636 -0.518856 NA 0.75 0.952791 0.906491 NA 0.92 NA 4.4607424 1214 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 1214 16 31926619 31926619 G A exonic ZNF267 NA nonsynonymous SNV ZNF267:NM_003414:exon4:c.G1049A:p.C350Y,ZNF267:NM_001265588:exon5:c.G953A:p.C318Y exonic ENSG00000185947 NA nonsynonymous SNV ENSG00000185947:ENST00000300870:exon4:c.G1049A:p.C350Y NA NA 16p11.2 NA NA NA NA rs3850114 0.88 0.88 0.852 0.855032 0.9672 1 0.9409 0.5204 0.9816 0.97 1 0.94 0.55 0.9402 1 1 T 0.0 B 0.0 B . . 0.999 P -2.515 N 2.83 T -0.988 T 0.000 T 0.116 -0.643 1.164 0.458 -0.490 -0.878 1.412 -0.642866 NA 1 0.965581 0.607192 NA 0.826 NA 4.4603524 1214 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 1214 11 117304196 117304196 C T intronic DSCAML1 NA NA NA intronic ENSG00000177103 NA NA NA Score=549;Name=lod=227 NA 11q23.3 NA NA NA NA rs2242133 0.17 0.17 0.158 0.19988 0.174 0.251 0.1873 0.0658 0.364 0.17 0.27 0.16 0.08 0.1937 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.912571 2.912571 NA 0.172486 0.075875 NA 0.13 NA 4.459814 1214 3 44986836 44986836 T C intronic ZDHHC3 NA NA NA intronic ENSG00000163812 NA NA NA NA NA 3p21.31 NA Name=CTCF NA NA rs3749189 0.19 0.19 0.196 0.213658 0.161 0.1131 0.2248 0.3094 0.2342 0.17 0.09 0.23 0.32 0.1924 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487704 NA NA 0.187744 0.282969 NA 0.254 NA 4.458856 1214 2 37438993 37438993 G A exonic CEBPZ NA synonymous SNV CEBPZ:NM_005760:exon12:c.C2793T:p.S931S exonic ENSG00000115816 NA synonymous SNV ENSG00000115816:ENST00000234170:exon12:c.C2793T:p.S931S NA NA 2p22.2 NA NA NA NA rs1137437 0.38 0.38 0.355 0.319489 0.4264 0.3462 0.3674 0.2579 0.2311 0.43 0.39 0.37 0.29 0.3805 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.531827 NA NA 0.401721 0.282016 NA 0.29 NA 4.4580456 1214 11 5776470 5776470 T G exonic OR52N4 NA nonsynonymous SNV OR52N4:NM_001005175:exon1:c.T500G:p.L167R exonic ENSG00000181074 NA nonsynonymous SNV ENSG00000181074:ENST00000317254:exon1:c.T500G:p.L167R NA NA 11p15.4 NA NA NA NA rs7394584 0.91 0.91 0.9 0.891773 0.9682 0.9067 0.8703 0.7738 0.9724 0.97 0.92 0.9 0.8 0.936 0.97 1 T 0.0 B 0.001 B 0.079 N 1.000 P -2.1 N 8.87 T -1.003 T 0.000 T 0.221 -3.025 0.001 1.9 -0.080 -0.346 6.494 -3.025323 NA 1 0.971252 0.8121 NA 0.899 NA 4.4578814 1214 5 644552 644552 G T intronic CEP72 NA NA NA intronic ENSG00000112877 NA NA NA NA NA 5p15.33 NA Name=PU.1 NA NA rs4957080 0.1 0.1 0.086 0.10024 0.1909 0.0198 0.1585 0.0045 0.1779 0.2 0.02 0.17 0.0041 0.1553 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385041 NA NA 0.196395 0.03813 NA 0.094 NA 4.457405 1214 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 1214 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 1214 7 29924221 29924221 T C intronic WIPF3 NA NA NA intronic ENSG00000122574 NA NA NA NA NA 7p14.3 NA Name=GATA3_(SC-268),YY1_(C-20),CTCF Name=9 NA rs13310795 0.41 0.41 0.394 0.408347 0.5547 0.0883 0.4813 0.4788 0.4407 0.53 0.11 0.49 0.52 0.5263 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745563 NA NA 0.463067 0.420997 NA 0.399 NA 4.455933 1214 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 1214 6 102247673 102247673 T C intronic GRIK2 NA NA NA intronic ENSG00000164418 NA NA NA NA NA 6q16.3 NA NA NA NA rs6922753 0.37 0.37 0.368 0.415136 0.1471 0.6905 0.2839 0.4682 0.4284 0.15 0.66 0.24 0.48 0.2537 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 1.546624 1.546624 NA 0.143837 0.425329 NA 0.355 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117158.2;CLNDSDB=.;CLNDSDBID=. 4.455363 1214 7 115624288 115624288 T C intronic TFEC NA NA NA intronic ENSG00000105967 NA NA NA NA NA 7q31.2 NA NA Name=14 NA rs4730703 0.08 0.08 0.079 0.066893 0.1889 0.001 0.0951 0.0113 0.0644 0.18 0.0017 0.11 0.02 0.1481 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.025448 NA NA 0.207674 0.040626 NA 0.058 NA 4.455326 1214 12 4553383 4553383 A G exonic FGF6 NA synonymous SNV FGF6:NM_020996:exon2:c.T366C:p.T122T exonic ENSG00000111241 NA synonymous SNV ENSG00000111241:ENST00000543077:exon1:c.T3C:p.T1T,ENSG00000111241:ENST00000228837:exon2:c.T366C:p.T122T NA NA 12p13.32 NA NA NA NA rs2241279 0.42 0.42 0.433 0.479633 0.3857 0.4206 0.3473 0.6021 0.5654 0.4 0.39 0.35 0.52 0.4265 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081055 NA NA 0.399186 0.582388 NA 0.406 NA 4.4552806 1215 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 1215 17 40120771 40120771 T G intronic CNP NA NA NA intronic ENSG00000173786 NA NA NA NA NA 17q21.2 NA Name=Pol2,Pol2-4H8 NA NA rs8078650 0.2 0.2 0.209 0.213059 0.1829 0.1627 0.0937 0.3517 0.1933 0.19 0.16 0.09 0.33 0.1998 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.015766 NA NA 0.162665 0.28056 NA 0.196 NA 4.454635 1215 10 105805497 105805497 C T intronic COL17A1 NA NA NA intronic ENSG00000065618 NA NA NA NA NA 10q25.1 NA Name=SMC3_(ab9263),Rad21,CTCF_(SC-5916),CTCF 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 1215 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 1215 11 65637273 65637273 A G intronic EFEMP2 NA NA NA intronic ENSG00000172638 NA NA NA NA NA 11q13.1 NA Name=ZNF263,Pol2 NA NA rs501630 0.39 0.39 0.4 0.415735 0.5457 0.2302 0.3573 0.3638 0.5849 0.55 0.19 0.4 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 0.264793 NA NA NA NA NA 0.493 NA 4.4543 1215 20 36758778 36758778 G C intronic TGM2 NA NA NA intronic ENSG00000198959 NA NA NA NA NA 20q11.23 NA Name=USF-1 NA NA rs2076377 0.3 0.3 0.304 0.303714 0.1441 0.2986 0.1729 0.559 0.2209 0.15 0.34 0.17 0.58 0.2585 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.251185 NA NA 0.143322 0.441871 NA 0.261 NA 4.454078 1215 15 58000981 58000981 C T exonic POLR2M NA synonymous SNV POLR2M:NM_015532:exon2:c.C183T:p.A61A exonic ENSG00000137878,ENSG00000255529 NA synonymous SNV ENSG00000255529:ENST00000299638:exon2:c.C183T:p.A61A,ENSG00000255529:ENST00000482852:exon2:c.C183T:p.A61A,ENSG00000137878:ENST00000587652:exon13:c.C1374T:p.A458A,ENSG00000255529:ENST00000380563:exon14:c.C183T:p.A61A Score=433;Name=lod=77 NA 15q21.3 NA NA NA NA rs1062707 0.56 0.56 0.544 0.496406 0.7674 0.4048 0.6873 0.2443 0.5174 0.76 0.43 0.7 0.28 0.6751 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 0.306064 NA NA 0.77027 0.335538 NA 0.565 NA 4.4538966 1215 6 33163451 33163451 G A exonic RXRB NA synonymous SNV RXRB:NM_001270401:exon7:c.C1152T:p.F384F,RXRB:NM_021976:exon7:c.C1152T:p.F384F exonic ENSG00000204231 NA synonymous SNV ENSG00000204231:ENST00000544186:exon6:c.C582T:p.F194F,ENSG00000204231:ENST00000374680:exon7:c.C1152T:p.F384F,ENSG00000204231:ENST00000374685:exon7:c.C1152T:p.F384F Score=579;Name=lod=301 NA 6p21.32 NA NA NA NA rs6531 0.83 0.83 0.842 0.858227 0.7187 0.9544 0.7853 0.8941 0.9059 0.71 0.97 0.77 0.89 0.7727 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 0.655906 NA NA 0.722038 0.821074 NA 0.79 NA 4.4532286 1215 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=Pol2(phosphoS2),USF-1,Pol2,HA-E2F1,USF1_(SC-8983),HEY1,ELF1_(SC-631),TAF1,Pol2-4H8,GABP,Sin3Ak-20,Max,IRF1,SP1,Nrf1,TBP,ELK4,Pol2(b),PU.1 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 1215 18 7033037 7033037 G A exonic LAMA1 NA synonymous SNV LAMA1:NM_005559:exon15:c.C2109T:p.A703A exonic ENSG00000101680 NA synonymous SNV ENSG00000101680:ENST00000389658:exon15:c.C2109T:p.A703A NA NA 18p11.31 NA NA NA NA rs621993 0.41 0.41 0.421 0.40655 0.4036 0.1319 0.3905 0.708 0.2965 0.41 0.16 0.36 0.72 0.4057 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.998184 NA NA 0.404419 0.640717 NA 0.391 NA 4.4529476 1215 8 143746050 143746050 C T exonic JRK NA nonsynonymous SNV JRK:NM_001077527:exon3:c.G1426A:p.G476R,JRK:NM_003724:exon3:c.G1426A:p.G476R ncRNA_exonic ENSG00000234616 NA NA NA NA NA 8q24.3 NA NA NA NA rs2976399 0.4 0.4 0.41 0.440895 0.3469 0.4841 0.2925 0.466 0.5644 0.34 0.47 0.32 0.47 0.3722 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.375127 NA 0.03 0.328218 0.429288 NA 0.254 NA 4.452682 1215 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 1215 7 64451656 64451656 G A exonic ERV3-1 NA synonymous SNV ERV3-1:NM_001007253:exon2:c.C1749T:p.V583V exonic ENSG00000213462 NA synonymous SNV ENSG00000213462:ENST00000394323:exon2:c.C1749T:p.V583V NA NA 7q11.21 NA NA NA NA rs4718177 0.4 0.4 0.404 0.387181 0.4016 0.4058 0.2637 0.3964 0.4284 0.43 0.39 0.33 0.4 0.4363 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.545067 NA NA 0.377494 0.388116 NA 0.37 NA 4.4512726 1215 10 115341846 115341846 G A exonic HABP2 NA synonymous SNV HABP2:NM_001177660:exon9:c.G972A:p.A324A,HABP2:NM_004132:exon9:c.G1050A:p.A350A exonic ENSG00000148702 NA synonymous SNV ENSG00000148702:ENST00000351270:exon9:c.G1050A:p.A350A,ENSG00000148702:ENST00000542051:exon9:c.G972A:p.A324A NA NA 10q25.3 NA NA NA NA rs2245058 0.39 0.39 0.366 0.376198 0.3917 0.2986 0.4914 0.4145 0.3067 0.39 0.33 0.45 0.41 0.4036 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.48573 NA NA 0.420349 0.414435 NA 0.283 NA 4.4510176 1215 1 62728861 62728861 T C exonic KANK4 NA synonymous SNV KANK4:NM_181712:exon7:c.A2442G:p.K814K exonic ENSG00000132854 NA synonymous SNV ENSG00000132854:ENST00000371150:exon4:c.A510G:p.K170K,ENSG00000132854:ENST00000354381:exon6:c.A558G:p.K186K,ENSG00000132854:ENST00000371153:exon7:c.A2442G:p.K814K Score=343;Name=lod=33 NA 1p31.3 NA NA NA NA rs2260581 0.72 0.72 0.669 0.716254 0.7396 0.8433 0.7896 0.5492 0.7352 0.74 0.81 0.78 0.54 0.7426 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 1.008597 NA NA 0.733837 0.558783 NA 0.819 NA 4.4506296 1215 7 122303321 122303321 C T exonic CADPS2 NA synonymous SNV CADPS2:NM_001009571:exon3:c.G756A:p.L252L,CADPS2:NM_001167940:exon3:c.G756A:p.L252L,CADPS2:NM_017954:exon3:c.G756A:p.L252L exonic ENSG00000081803 NA synonymous SNV ENSG00000081803:ENST00000313070:exon3:c.G756A:p.L252L,ENSG00000081803:ENST00000334010:exon3:c.G756A:p.L252L,ENSG00000081803:ENST00000412584:exon3:c.G756A:p.L252L,ENSG00000081803:ENST00000449022:exon3:c.G756A:p.L252L Score=562;Name=lod=256 NA 7q31.32 NA NA NA NA rs2251761 0.73 0.73 0.739 0.718051 0.7306 0.7579 0.6585 0.6536 0.7935 0.73 0.78 0.7 0.68 0.727 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 1.143026 NA NA 0.758604 0.677376 NA 0.659 NA 4.4504626 1215 3 52802402 52802402 A C exonic NEK4 NA synonymous SNV NEK4:NM_003157:exon2:c.T312G:p.P104P exonic ENSG00000114904 NA synonymous SNV ENSG00000114904:ENST00000233027:exon2:c.T312G:p.P104P,ENSG00000114904:ENST00000383721:exon2:c.T312G:p.P104P NA NA 3p21.1 NA NA NA NA rs2230534 0.39 0.39 0.377 0.33147 0.4195 0.4266 0.4597 0.1475 0.3006 0.43 0.49 0.48 0.16 0.3878 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.238014 NA NA 0.409186 0.177258 NA 0.225 NA 4.4501806 1215 12 119978404 119978404 A G intronic CCDC60 NA NA NA ncRNA_intronic ENSG00000248636 NA NA NA NA NA 12q24.23 NA NA Name=2 NA rs708889 0.29 0.29 0.288 0.279353 0.2962 0.1647 0.2334 0.4486 0.184 0.3 0.16 0.26 0.43 0.2826 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.903204 NA NA 0.304419 0.432592 NA 0.232 NA 4.4501143 1215 11 5443739 5443739 T C exonic OR51Q1 NA synonymous SNV OR51Q1:NM_001004757:exon1:c.T309C:p.F103F exonic ENSG00000167360 NA synonymous SNV ENSG00000167360:ENST00000300778:exon1:c.T309C:p.F103F NA NA 11p15.4 NA NA NA NA rs2736587 0.44 0.44 0.415 0.453674 0.3986 0.7024 0.3991 0.2799 0.5276 0.37 0.69 0.41 0.28 0.4255 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 -0.09957 NA NA 0.392483 0.30259 NA 0.319 NA 4.4500836 1215 11 5443700 5443700 C T exonic OR51Q1 NA synonymous SNV OR51Q1:NM_001004757:exon1:c.C270T:p.N90N exonic ENSG00000167360 NA synonymous SNV ENSG00000167360:ENST00000300778:exon1:c.C270T:p.N90N NA NA 11p15.4 NA NA NA NA rs2736588 0.44 0.44 0.412 0.453674 0.3986 0.7024 0.3991 0.2799 0.5276 0.37 0.69 0.41 0.28 0.4257 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 -0.985905 NA NA 0.392483 0.30259 NA 0.319 NA 4.4498836 1215 21 37572810 37572810 G A intronic DOPEY2 NA NA NA intronic ENSG00000142197 NA NA NA NA NA 21q22.12 NA Name=Egr-1 NA NA rs9979031 0.14 0.14 0.136 0.147364 0.1899 0.1617 0.2032 0.0204 0.2209 0.19 0.15 0.18 0.02 0.1745 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 1.784482 1.784482 NA 0.18593 0.039946 NA 0.167 NA 4.44967 1215 1 62728918 62728918 G A exonic KANK4 NA synonymous SNV KANK4:NM_181712:exon7:c.C2385T:p.P795P exonic ENSG00000132854 NA synonymous SNV ENSG00000132854:ENST00000371150:exon4:c.C453T:p.P151P,ENSG00000132854:ENST00000354381:exon6:c.C501T:p.P167P,ENSG00000132854:ENST00000371153:exon7:c.C2385T:p.P795P Score=321;Name=lod=27 NA 1p31.3 NA NA NA NA rs2262110 0.72 0.72 0.676 0.716054 0.7396 0.8433 0.7896 0.5484 0.7352 0.74 0.81 0.78 0.53 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 -0.443267 NA NA 0.733837 0.558783 NA 0.819 NA 4.4495296 1215 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 1215 11 117864047 117864047 A G exonic IL10RA NA synonymous SNV IL10RA:NM_001558:exon4:c.A459G:p.A153A exonic ENSG00000110324 NA nonsynonymous SNV ENSG00000110324:ENST00000526544:exon3:c.A280G:p.K94E NA NA 11q23.3 NA NA NA NA rs2256111 0.52 0.52 0.49 0.516773 0.506 0.5536 0.5663 0.4569 0.5358 0.5 0.57 0.56 0.48 0.5273 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.423319 1.423319 NA 0.518506 0.467955 NA 0.478 NA 4.448194 1215 6 53519062 53519062 A G exonic KLHL31 NA synonymous SNV KLHL31:NM_001003760:exon2:c.T1009C:p.L337L exonic ENSG00000124743 NA synonymous SNV ENSG00000124743:ENST00000407079:exon1:c.T1009C:p.L337L,ENSG00000124743:ENST00000370905:exon2:c.T1009C:p.L337L Score=542;Name=lod=212 NA 6p12.1 NA NA NA NA rs10948758 0.68 0.68 0.636 0.682308 0.7366 0.6994 0.7723 0.5272 0.7546 0.72 0.68 0.78 0.55 0.7312 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 0.123772 NA NA 0.751279 0.572628 NA 0.674 NA 4.4475876 1215 11 14264916 14264916 A G exonic SPON1 NA unknown UNKNOWN ncRNA_exonic ENSG00000152268 NA NA NA Score=600;Name=lod=365 NA 11p15.2 NA NA NA NA rs2303973 0.43 0.43 0.426 0.438299 0.4125 0.2401 0.5591 0.5635 0.4141 0.43 0.24 0.52 0.56 0.5166 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.702744 1.702744 NA 0.456741 0.516525 NA 0.493 NA 4.4474923 1215 20 61150928 61150928 A G intronic C20orf166 NA NA NA intronic ENSG00000174407 NA NA NA NA NA 20q13.33 NA Name=CTCF NA NA rs12624794 0.57 0.57 0.567 0.567292 0.5527 0.6825 0.5706 0.525 0.5184 0.57 0.67 0.52 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 0.570977 NA NA NA NA NA 0.471 NA 4.4473 1215 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 1215 1 44415415 44415415 C T exonic IPO13 NA synonymous SNV IPO13:NM_014652:exon2:c.C411T:p.D137D exonic ENSG00000117408 NA synonymous SNV ENSG00000117408:ENST00000372343:exon2:c.C411T:p.D137D NA NA 1p34.1 Score=864;Name=V$COUP_01 NA NA NA rs2240447 0.55 0.55 0.51 0.505192 0.7634 0.6161 0.6167 0.0877 0.6104 0.77 0.58 0.66 0.11 0.671 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 0.178554 NA NA 0.785116 0.204494 NA 0.522 NA 4.4471506 1215 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 1215 10 85992478 85992478 T C exonic LRIT1 NA synonymous SNV LRIT1:NM_015613:exon4:c.A1077G:p.G359G exonic ENSG00000148602 NA synonymous SNV ENSG00000148602:ENST00000372105:exon4:c.A1077G:p.G359G NA NA 10q23.1 NA NA NA NA rs3814210 0.47 0.47 0.485 0.493211 0.3976 0.2589 0.4798 0.8669 0.3374 0.41 0.26 0.44 0.86 0.4326 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 -1.500604 NA NA 0.389767 0.777122 NA 0.565 NA 4.4466996 1215 1 212273639 212273639 C T exonic DTL NA nonsynonymous SNV DTL:NM_016448:exon14:c.C1307T:p.A436V exonic ENSG00000143476 NA nonsynonymous SNV ENSG00000143476:ENST00000542077:exon13:c.C1181T:p.A394V,ENSG00000143476:ENST00000366991:exon14:c.C1307T:p.A436V NA NA 1q32.3 NA NA NA NA rs3135474 0.97 0.97 0.951 0.959465 0.9592 1 0.9957 0.9115 0.9571 0.96 1 0.99 0.92 0.9627 1 0.5 T 0.0 B 0.001 B 0.103 N 1.000 P -1.355 N -0.45 T -0.956 T 0.000 T 0.054 -1.842 0.009 1.48 -0.158 0.086 11.762 -1.841883 NA 1 0.964767 0.919201 NA 0.957 NA 4.4466664 1215 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 1215 11 116732512 116732512 G T intronic SIK3 NA NA NA intronic ENSG00000160584 NA NA NA NA Name=Triglycerides 11q23.3 NA Name=eGFP-JunD,c-Fos,GATA-2,eGFP-JunB,c-Jun Name=87 NA rs2075292 0.76 0.76 0.774 0.746805 0.8588 0.4742 0.7363 0.9244 0.68 0.85 0.47 0.79 0.94 0.8129 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 -0.523561 NA NA 0.883147 0.913221 NA 0.862 NA 4.445153 1215 1 2121118 2121118 C T UTR3 C1orf86 NM_182533:c.*30G>A,NM_001256947:c.*98G>A NA NA UTR3 ENSG00000162585 ENST00000378546:c.*30G>A,ENST00000378543:c.*98G>A,ENST00000378545:c.*30G>A,ENST00000440825:c.*314G>A NA NA NA NA 1p36.33 NA Name=ETS1,eGFP-JunD,E2F4,Sin3Ak-20,ELF1_(SC-631),HDAC2_(SC-6296),NF-YA,E2F6_(H-50),Mxi1_(bHLH),USF-1,NFKB,FOXA2_(SC-6554),Egr-1,Pol2,HMGN3,TCF4,TAF1,FOXA1_(C-20),Pol2-4H8,IRF1,GABP,SP1,Nrf1,NF-YB,YY1,FOXA1_(SC-101058) Name=147 NA rs2503701 0.69 0.69 0.685 0.702077 0.6083 0.8641 0.6455 0.5787 0.8384 0.61 0.88 0.64 0.62 0.6729 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 0.431127 NA NA 0.607051 0.580645 NA 0.428 NA 4.4450824 1216 11 130784971 130784971 C G exonic SNX19 NA synonymous SNV SNX19:NM_014758:exon1:c.G864C:p.P288P exonic ENSG00000120451 NA synonymous SNV ENSG00000120451:ENST00000265909:exon1:c.G864C:p.P288P,ENSG00000120451:ENST00000533214:exon1:c.G864C:p.P288P Score=340;Name=lod=32 NA 11q24.3 NA NA NA NA rs3751036 0.76 0.76 0.745 0.796925 0.7207 0.6806 0.7723 0.9145 0.8538 0.72 0.68 0.76 0.9 0.7677 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 0.091814 NA NA 0.733419 0.882553 NA 0.674 NA 4.4448476 1216 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 1216 13 114018038 114018038 C A intronic GRTP1 NA NA NA intronic ENSG00000139835 NA NA NA NA NA 13q34 NA Name=HNF4G_(SC-6558),TAF1,Egr-1,HNF4A_(H-171) Name=14 NA rs9549753 0.43 0.43 0.418 0.436701 0.5249 0.3433 0.3804 0.3873 0.5491 0.51 0.34 0.43 0.41 0.4657 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603554 NA NA 0.565116 0.461405 NA 0.261 NA 4.444284 1216 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 1216 11 118107805 118107805 A G exonic MPZL3 NA synonymous SNV MPZL3:NM_198275:exon3:c.T411C:p.H137H exonic ENSG00000160588 NA synonymous SNV ENSG00000160588:ENST00000278949:exon3:c.T411C:p.H137H,ENSG00000160588:ENST00000527472:exon3:c.T375C:p.H125H Score=542;Name=lod=212 NA 11q23.3 NA NA NA NA rs1793140 0.78 0.78 0.783 0.804912 0.7256 0.6944 0.7781 0.9357 0.8425 0.72 0.73 0.76 0.92 0.7579 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 1.032516 NA NA 0.739874 0.901818 ID=COSM147333;OCCURENCE=1(stomach) 0.848 NA 4.4432926 1216 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 1216 9 967981 967981 G C intronic DMRT1 NA NA NA intronic ENSG00000137090 NA NA NA Score=313;Name=lod=25 NA 9p24.3 NA Name=ZNF263,TBP,KAP1,TAF1 Name=17 NA rs279895 0.92 0.92 0.936 0.936102 0.841 0.998 0.9121 0.9826 0.9243 0.85 1 0.9 0.97 0.8825 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600741 NA NA 0.833605 0.963232 NA 0.971 NA 4.442895 1216 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 1216 8 6478986 6478986 C T exonic MCPH1 NA synonymous SNV MCPH1:NM_024596:exon13:c.C2226T:p.S742S exonic ENSG00000147316 NA synonymous SNV ENSG00000147316:ENST00000344683:exon13:c.C2226T:p.S742S NA NA 8p23.1 NA NA NA NA rs2912010 0.46 0.46 0.447 0.452875 0.4076 0.6776 0.3516 0.3449 0.4857 0.42 0.65 0.39 0.37 0.4292 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.131126 NA NA 0.387356 0.349008 NA 0.609 NA 4.4425106 1216 10 30317949 30317949 C T exonic KIAA1462 NA synonymous SNV KIAA1462:NM_020848:exon3:c.G1128A:p.P376P exonic ENSG00000165757 NA synonymous SNV ENSG00000165757:ENST00000375377:exon3:c.G1128A:p.P376P NA NA 10p11.23 NA NA NA NA rs2478835 0.29 0.29 0.253 0.255192 0.4254 0.1935 0.4524 0.0598 0.2679 0.43 0.22 0.42 0.09 0.3759 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.026744 2.026744 NA 0.423461 0.117419 NA 0.341 NA 4.4419056 1216 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 1216 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 1216 X 32563263 32563263 A G intronic DMD NA NA NA intronic ENSG00000198947 NA NA NA NA NA Xp21.1 NA NA NA NA rs228373 0.4 0.4 0.38712 NA NA NA NA NA NA 0.25 0.54 0.39 0.46 0.3203 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.807902 NA NA 0.23978 0.47378 NA 0.196 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000080482.1|RCV000124732.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.43992 1216 14 105350868 105350868 C T exonic CEP170B NA synonymous SNV CEP170B:NM_015005:exon8:c.C1542T:p.A514A,CEP170B:NM_001112726:exon9:c.C1752T:p.A584A exonic ENSG00000099814 NA synonymous SNV ENSG00000099814:ENST00000418279:exon8:c.C1542T:p.A514A,ENSG00000099814:ENST00000556508:exon8:c.C1542T:p.A514A,ENSG00000099814:ENST00000414716:exon9:c.C1752T:p.A584A,ENSG00000099814:ENST00000453495:exon9:c.C1755T:p.A585A Score=462;Name=lod=101 NA 14q32.33 NA NA NA NA rs9788594 0.49 0.49 0.462 0.488019 0.7734 0.2262 0.6383 0.2716 0.6503 0.77 0.2 0.65 0.27 0.6745 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 -0.462573 NA NA 0.778996 0.404523 NA NA NA 4.4397706 1216 19 40023308 40023308 A G exonic EID2B NA synonymous SNV EID2B:NM_152361:exon1:c.T135C:p.A45A exonic ENSG00000176401 NA synonymous SNV ENSG00000176401:ENST00000326282:exon1:c.T135C:p.A45A NA NA 19q13.2 NA Name=PAX5-C20,Sin3Ak-20,YY1_(C-20),YY1,Pol2,Pol2-4H8,TAF1,NFKB NA NA rs1123301 0.78 0.78 0.767 0.801318 0.7425 0.8442 0.6484 0.8646 0.8405 0.76 0.82 0.7 0.82 0.7529 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 0.962202 NA NA 0.731499 0.873816 ID=COSM439481;OCCURENCE=1(breast) 0.572 NA 4.4397676 1216 11 5443442 5443442 G C exonic OR51Q1 NA synonymous SNV OR51Q1:NM_001004757:exon1:c.G12C:p.V4V exonic ENSG00000167360 NA synonymous SNV ENSG00000167360:ENST00000300778:exon1:c.G12C:p.V4V NA NA 11p15.4 NA NA NA NA rs2736590 0.46 0.46 0.445 0.475639 0.3986 0.7024 0.4006 0.3623 0.5276 0.37 0.69 0.41 0.37 0.4358 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 0.00344 NA NA 0.393181 0.360064 NA 0.333 NA 4.4390856 1216 12 52965782 52965782 T C exonic KRT74 NA synonymous SNV KRT74:NM_175053:exon3:c.A693G:p.E231E exonic ENSG00000170484 NA synonymous SNV ENSG00000170484:ENST00000305620:exon3:c.A693G:p.E231E,ENSG00000170484:ENST00000549343:exon3:c.A693G:p.E231E Score=429;Name=lod=74 NA 12q13.13 NA NA NA NA rs673476 0.78 0.78 0.792 0.807109 0.7336 0.7173 0.683 0.9871 0.82 0.74 0.71 0.69 0.97 0.7447 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 0.780757 NA NA 0.749884 0.951657 NA 0.754 NA 4.4384826 1216 2 231331896 231331896 G A exonic SP100 NA synonymous SNV SP100:NM_001206703:exon12:c.G1182A:p.S394S,SP100:NM_001080391:exon13:c.G1257A:p.S419S,SP100:NM_001206701:exon13:c.G1257A:p.S419S,SP100:NM_001206702:exon13:c.G1257A:p.S419S,SP100:NM_003113:exon13:c.G1257A:p.S419S,SP100:NM_001206704:exon14:c.G1152A:p.S384S exonic ENSG00000067066 NA synonymous SNV ENSG00000067066:ENST00000452345:exon4:c.G252A:p.S84S,ENSG00000067066:ENST00000409824:exon12:c.G1182A:p.S394S,ENSG00000067066:ENST00000427101:exon12:c.G1182A:p.S394S,ENSG00000067066:ENST00000264052:exon13:c.G1257A:p.S419S,ENSG00000067066:ENST00000340126:exon13:c.G1257A:p.S419S,ENSG00000067066:ENST00000341950:exon13:c.G1257A:p.S419S,ENSG00000067066:ENST00000409112:exon13:c.G1257A:p.S419S,ENSG00000067066:ENST00000409341:exon13:c.G1257A:p.S419S,ENSG00000067066:ENST00000409897:exon14:c.G1152A:p.S384S NA NA 2q37.1 NA NA NA NA rs1050224 0.64 0.64 0.647 0.664936 0.7555 0.4772 0.6484 0.6142 0.8456 0.75 0.47 0.64 0.68 0.7189 0.75 . . . . . . . . 1.000 P . . . . -1.007 T 0.000 T . -0.068 3.671 -0.079 -0.254 -0.419 4.551 -0.067548 NA NA 0.754302 0.629823 NA 0.609 NA 4.4379646 1216 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 1216 X 73045809 73045809 T C ncRNA_exonic TSIX,XIST NA NA NA ncRNA_exonic ENSG00000229807,ENSG00000270641 NA NA NA NA NA Xq13.2 NA NA NA NA rs16992442 0.06 0.06 0.03736 NA NA NA NA NA NA 0.08 NA 0.19 0.01 0.1034 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 -0.04431 NA NA 0.125523 0.022567 NA 0.043 NA 4.4377436 1216 1 180905352 180905352 C T exonic KIAA1614 NA synonymous SNV KIAA1614:NM_020950:exon5:c.C2307T:p.S769S exonic ENSG00000135835 NA synonymous SNV ENSG00000135835:ENST00000367587:exon2:c.C1170T:p.S390S,ENSG00000135835:ENST00000367588:exon5:c.C2307T:p.S769S NA NA 1q25.3 NA NA NA NA rs3795505 0.33 0.33 0.295 0.332468 0.4245 0.2599 0.4006 0.1536 0.5061 0.42 0.24 0.45 0.19 0.393 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.015757 NA NA 0.412094 0.187561 NA 0.42 NA 4.4370726 1216 4 178274565 178274565 A G exonic NEIL3 NA synonymous SNV NEIL3:NM_018248:exon8:c.A1143G:p.R381R exonic ENSG00000109674 NA synonymous SNV ENSG00000109674:ENST00000264596:exon8:c.A1143G:p.R381R Score=492;Name=lod=133 NA 4q34.3 NA NA NA NA rs2048074 0.63 0.63 0.616 0.609026 0.7753 0.376 0.634 0.6702 0.5777 0.77 0.38 0.7 0.64 0.6907 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 -0.120297 NA NA 0.763605 0.697458 NA 0.681 NA 4.4370616 1216 18 3075778 3075778 A C intronic MYOM1 NA NA NA intronic ENSG00000101605 NA NA NA NA NA 18p11.31 NA NA Name=12 NA rs2298537 0.2 0.2 0.192 0.183506 0.2008 0.1875 0.183 0.1747 0.1738 0.21 0.2 0.16 0.2 0.2019 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.649108 NA NA 0.161361 0.135179 NA 0.116 NA 4.435939 1216 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 1216 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 1216 8 38286811 38286811 C G intronic FGFR1 NA NA NA UTR3 ENSG00000077782 ENST00000487647:c.*3G>C,ENST00000484370:c.*3G>C NA NA NA NA 8p11.23 NA NA Name=2 NA rs2304000 0.25 0.25 0.237 0.196286 0.2455 0.3185 0.2579 0.1248 0.0726 0.25 0.33 0.27 0.14 0.2678 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.763952 NA NA 0.217677 0.170281 NA 0.225 NA 4.4356897 1216 1 22336277 22336277 C G exonic CELA3A NA nonsynonymous SNV CELA3A:NM_005747:exon7:c.C722G:p.A241G exonic ENSG00000142789 NA nonsynonymous SNV ENSG00000142789:ENST00000400271:exon2:c.C146G:p.A49G,ENSG00000142789:ENST00000290122:exon7:c.C722G:p.A241G NA NA 1p36.12 NA NA NA NA rs3820285 0.89 0.89 0.891 0.895767 0.9771 0.7431 0.902 0.9047 0.953 0.98 0.71 0.91 0.93 0.9449 0.98 0.59 T 0.0 B 0.004 B . . 1.000 P 0.155 N 2.27 T -0.994 T 0.000 T 0.075 -1.949 0.007 1.71 0.216 -0.157 11.399 -1.949341 NA 0.66 0.975698 0.921029 NA 0.899 NA 4.4356354 1217 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 1217 1 115576023 115576023 A G exonic TSHB NA nonsynonymous SNV TSHB:NM_000549:exon2:c.A40G:p.T14A exonic ENSG00000134200 NA nonsynonymous SNV ENSG00000134200:ENST00000369517:exon1:c.A40G:p.T14A,ENSG00000134200:ENST00000256592:exon2:c.A40G:p.T14A NA NA 1p13.2 NA NA NA NA rs10776792 0.99 0.99 0.99 0.983626 0.9622 1 0.9942 1 0.9591 0.96 1 1 1 0.9707 1 1 T 0.0 B 0.0 B 0.932 N 1.000 P -0.46 N 0.36 T -1.039 T 0.013 T 0.048 -1.62 0.013 -1.69 -0.615 0.224 2.173 -1.619774 NA 0.87 0.965465 0.994326 NA 0.986 NA 4.4349684 1217 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 1217 3 196674916 196674916 A C exonic PIGZ NA synonymous SNV PIGZ:NM_025163:exon3:c.T852G:p.A284A exonic ENSG00000119227 NA synonymous SNV ENSG00000119227:ENST00000412723:exon3:c.T852G:p.A284A NA NA 3q29 NA NA NA NA rs1147240 0.57 0.57 0.566 0.577276 0.3976 0.7698 0.4568 0.6672 0.5276 0.38 0.79 0.44 0.69 0.4596 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 -1.235825 NA NA 0.375349 0.618021 NA 0.435 NA 4.4341176 1217 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 1217 2 109106381 109106381 A G exonic GCC2 NA synonymous SNV GCC2:NM_181453:exon18:c.A4140G:p.Q1380Q exonic ENSG00000135968 NA synonymous SNV ENSG00000135968:ENST00000309863:exon18:c.A4140G:p.Q1380Q NA NA 2q12.3 NA NA NA NA rs12104502 0.5 0.5 0.438 0.45647 0.3757 0.8899 0.5879 0.1679 0.3896 0.39 0.88 0.55 0.2 0.4509 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 0.478505 NA NA 0.406395 0.220154 NA 0.297 NA 4.4336716 1217 2 75915035 75915035 C T exonic GCFC2 NA synonymous SNV GCFC2:NM_001201334:exon11:c.G1101A:p.V367V,GCFC2:NM_003203:exon11:c.G1608A:p.V536V exonic ENSG00000005436 NA synonymous SNV ENSG00000005436:ENST00000321027:exon11:c.G1608A:p.V536V,ENSG00000005436:ENST00000409857:exon11:c.G1494A:p.V498V NA NA 2p12 NA NA NA NA rs1803196 0.49 0.49 0.488 0.51238 0.3907 0.379 0.4582 0.7935 0.4335 0.4 0.39 0.45 0.79 0.4412 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 -1.335323 NA NA 0.40114 0.728552 ID=COSM148880;OCCURENCE=1(stomach) 0.594 NA 4.4336266 1217 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 1217 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 1217 14 60923783 60923783 C T exonic C14orf39 NA nonsynonymous SNV C14orf39:NM_174978:exon15:c.G1210A:p.V404I exonic ENSG00000179008 NA nonsynonymous SNV ENSG00000179008:ENST00000321731:exon15:c.G1210A:p.V404I NA NA 14q23.1 NA NA NA NA rs11625921 0.94 0.94 0.945 0.904353 0.9751 0.878 0.9654 0.9675 0.7301 0.98 0.87 0.96 0.97 0.9426 0.98 1 T 0.0 B 0.0 B 0.787 N 1.000 P -1.445 N 1.92 T -1.000 T 0.000 T 0.063 -1.809 0.009 1.81 0.140 -0.238 7.241 -1.809372 NA 1 0.982899 0.973899 NA 0.92 NA 4.4327344 1217 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 1217 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 1217 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 1217 12 939302 939302 A G exonic WNK1 NA synonymous SNV WNK1:NM_001184985:exon4:c.A1287G:p.A429A,WNK1:NM_014823:exon4:c.A1287G:p.A429A,WNK1:NM_018979:exon4:c.A1287G:p.A429A,WNK1:NM_213655:exon4:c.A1287G:p.A429A exonic ENSG00000060237 NA synonymous SNV ENSG00000060237:ENST00000315939:exon4:c.A1287G:p.A429A,ENSG00000060237:ENST00000530271:exon4:c.A1287G:p.A429A,ENSG00000060237:ENST00000535572:exon4:c.A1287G:p.A429A,ENSG00000060237:ENST00000537687:exon4:c.A1287G:p.A429A NA NA 12p13.33 Score=861;Name=V$YY1_01 NA NA NA rs10774466 0.74 0.74 0.726 0.69349 0.7406 0.871 0.7594 0.5076 0.6667 0.75 0.89 0.75 0.54 0.7451 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 1.106567 NA NA 0.748953 0.561734 NA 0.717 NA 4.4320136 1217 13 99088006 99088006 G A intronic FARP1 NA NA NA exonic ENSG00000152767 NA nonsynonymous SNV ENSG00000152767:ENST00000423063:exon2:c.G415A:p.E139K NA NA 13q32.2 NA NA NA NA rs1792 0.3 0.3 0.275 0.294129 0.2475 0.2778 0.3357 0.3253 0.2873 0.25 0.33 0.33 0.32 0.2639 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.83768 1.83768 NA 0.223837 0.309805 NA 0.225 NA 4.4314297 1217 12 56151291 56151291 T C UTR3 SARNP NM_033082:c.*5A>G NA NA UTR3 ENSG00000205323,ENSG00000257390 ENST00000546604:c.*5A>G,ENST00000552884:c.*432A>G,ENST00000444631:c.*5A>G,ENST00000336133:c.*5A>G;ENST00000546837:c.*5A>G NA NA Score=553;Name=lod=235 NA 12q13.2 NA NA NA NA rs7068 0.26 0.26 0.231 0.219649 0.328 0.3214 0.3386 0.0234 0.184 0.32 0.33 0.32 0.05 0.2727 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.773619 3.773619 NA 0.301279 0.059691 NA 0.246 NA 4.4313544 1217 1 112308972 112308972 G A exonic DDX20 NA synonymous SNV DDX20:NM_007204:exon11:c.G1926A:p.V642V exonic ENSG00000064703 NA synonymous SNV ENSG00000064703:ENST00000475700:exon3:c.G750A:p.V250V,ENSG00000064703:ENST00000369702:exon11:c.G1926A:p.V642V NA NA 1p13.2 NA NA NA NA rs197413 0.48 0.48 0.473 0.479832 0.4185 0.3403 0.5115 0.7428 0.3088 0.42 0.35 0.45 0.75 0.4274 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 -1.259234 NA NA 0.389419 0.679074 NA 0.565 NA 4.4313476 1217 3 108754260 108754260 A G exonic MORC1 NA synonymous SNV MORC1:NM_014429:exon15:c.T1386C:p.D462D exonic ENSG00000114487 NA synonymous SNV ENSG00000114487:ENST00000232603:exon15:c.T1386C:p.D462D,ENSG00000114487:ENST00000483760:exon15:c.T1386C:p.D462D NA NA 3q13.13 NA NA NA NA rs3762696 0.35 0.35 0.359 0.360224 0.4324 0.1101 0.2939 0.5136 0.3834 0.44 0.08 0.35 0.52 0.3798 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.63668 NA NA 0.423256 0.526782 NA 0.37 NA 4.4312106 1217 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 1217 17 8064083 8064083 T G UTR3 VAMP2 NM_014232:c.*90A>C NA NA UTR3 ENSG00000220205 ENST00000316509:c.*90A>C,ENST00000404970:c.*700A>C NA NA Score=677;Name=lod=752 NA 17p13.1 NA NA NA NA rs1061032 0.74 0.74 NA 0.740216 0.9026 0.5258 0.8256 0.6452 0.862 0.92 0.56 0.83 0.62 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 1.810066 1.810066 NA NA NA NA 0.659 NA 4.4307334 1217 6 30229267 30229267 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 rs3094075 0.04 0.04 0.041 0.033147 0.0775 NA 0.0216 0.0537 0.002 0.08 NA 0.03 0.05 0.0607 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 -0.472725 NA NA 0.097822 0.066512 NA 0.101 NA 4.4306446 1217 9 113169126 113169126 G A exonic SVEP1 NA synonymous SNV SVEP1:NM_153366:exon38:c.C8754T:p.H2918H exonic ENSG00000165124 NA synonymous SNV ENSG00000165124:ENST00000297826:exon3:c.C2532T:p.H844H,ENSG00000165124:ENST00000374469:exon38:c.C8685T:p.H2895H,ENSG00000165124:ENST00000401783:exon38:c.C8754T:p.H2918H NA NA 9q31.3 NA NA NA NA rs2281937 0.28 0.28 0.265 0.262979 0.4344 0.0913 0.3372 0.2095 0.2832 0.43 0.11 0.34 0.2 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 -1.079954 NA NA 0.426656 0.239952 NA 0.326 NA 4.4305106 1217 3 124951821 124951821 C T exonic ZNF148 NA synonymous SNV ZNF148:NM_021964:exon9:c.G1749A:p.P583P exonic ENSG00000163848 NA synonymous SNV ENSG00000163848:ENST00000492394:exon8:c.G1749A:p.P583P,ENSG00000163848:ENST00000360647:exon9:c.G1749A:p.P583P,ENSG00000163848:ENST00000484491:exon9:c.G1749A:p.P583P,ENSG00000163848:ENST00000485866:exon10:c.G1749A:p.P583P Score=814;Name=lod=2720 NA 3q21.2 NA NA NA NA rs1053738 0.7 0.7 0.7 0.70607 0.7545 0.5298 0.6311 0.8767 0.6605 0.75 0.5 0.64 0.88 0.7207 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 -1.062356 NA NA 0.761107 0.852701 NA 0.804 NA 4.4303596 1217 13 32776603 32776603 T C exonic FRY NA synonymous SNV FRY:NM_023037:exon31:c.T3957C:p.L1319L exonic ENSG00000073910 NA synonymous SNV ENSG00000073910:ENST00000380250:exon31:c.T3957C:p.L1319L NA NA 13q13.1 NA NA NA NA rs2428249 0.36 0.36 0.357 0.345847 0.4404 0.1657 0.4409 0.4191 0.2679 0.45 0.13 0.4 0.46 0.3848 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.150033 NA NA 0.411285 0.41362 NA 0.486 NA 4.4301816 1217 2 135762980 135762980 C T intronic MAP3K19 NA NA NA intronic ENSG00000176601 NA NA NA NA NA 2q21.3 NA NA Name=2 NA rs7606415 0.31 0.31 0.321 0.340455 0.1849 0.3849 0.2277 0.4871 0.3364 0.18 0.42 0.23 0.45 0.2323 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.308795 NA NA 0.153023 0.39764 NA 0.312 NA 4.429777 1217 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 1217 3 140998214 140998214 G A intronic ACPL2 NA NA NA ncRNA_intronic ENSG00000249417 NA NA NA NA NA 3q23 NA Name=CTCF,CTCF_(SC-5916),Rad21,SMC3_(ab9263) Name=93 NA rs13087169 0.56 0.56 0.533 0.567093 0.6421 0.5357 0.6599 0.3964 0.6871 0.66 0.53 0.66 0.38 0.6234 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 -0.456775 NA NA 0.638721 0.44394 NA 0.507 NA 4.4291123 1217 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 1217 7 158529889 158529889 T G intronic ESYT2 NA NA NA intronic ENSG00000117868 NA NA NA NA NA 7q36.3 Score=834;Name=V$EVI1_01 NA NA NA rs2305467 0.32 0.32 0.327 0.336062 0.17 0.5843 0.1801 0.3994 0.2761 0.17 0.56 0.17 0.38 0.2308 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019561 NA NA 0.171395 0.341807 NA 0.232 NA 4.427805 1217 13 46656669 46656669 A G exonic CPB2 NA synonymous SNV CPB2:NM_001872:exon4:c.T291C:p.D97D exonic ENSG00000080618 NA synonymous SNV ENSG00000080618:ENST00000181383:exon4:c.T291C:p.D97D,ENSG00000080618:ENST00000439329:exon4:c.T291C:p.D97D Score=272;Name=lod=17 NA 13q14.13 NA NA NA NA rs2296642 0.82 0.82 0.833 0.798722 0.7406 0.8185 0.7911 0.8896 0.7209 0.75 0.85 0.8 0.89 0.7631 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 -0.816966 NA NA 0.735814 0.864957 NA 0.797 NA 4.4271526 1217 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=NF-YB,Pol2(b),E2F6_(H-50),Pol2-4H8,NF-YA,HEY1 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 1217 11 61615803 61615803 C G intronic FADS2 NA NA NA intronic ENSG00000134824 NA NA NA NA NA 11q12.2 NA Name=GABP NA NA rs174589 0.16 0.16 0.124 0.134385 0.1968 0.1468 0.3199 0.0174 0.0838 0.21 0.11 0.33 0.04 0.1786 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.737179 NA NA 0.198069 0.051998 NA 0.203 NA 4.426531 1217 1 112321032 112321032 T A intronic KCND3 NA NA NA intronic ENSG00000171385 NA NA NA Score=685;Name=lod=809 NA 1p13.2 NA NA NA NA rs640029 0.19 0.19 0.201 0.192692 0.1958 0.0367 0.134 0.3865 0.1299 0.2 0.04 0.12 0.39 0.1803 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.813363 NA NA 0.197442 0.341353 NA 0.268 NA 4.426458 1217 17 79650675 79650675 C G intronic ARL16 NA NA NA UTR5 ENSG00000214087 ENST00000573392:c.-1502G>C,ENST00000574938:c.-1502G>C,ENST00000570561:c.-585G>C,ENST00000576135:c.-585G>C,ENST00000573715:c.-585G>C NA NA NA NA 17q25.3 NA Name=Pol2-4H8,TAF1,Pbx3,HEY1,Pol2,HDAC2_(SC-6296),ZBTB7A_(SC-34508),ELK4,TBP,YY1_(C-20),Sin3Ak-20 NA NA rs8080624 0.26 0.26 0.295 0.248203 0.2604 0.2292 0.1556 0.3578 0.1728 0.24 0.23 0.17 0.4 0.2626 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560369 NA NA 0.217364 0.343132 NA 0.333 NA 4.4263027 1217 17 39983849 39983849 G C exonic NT5C3B NA synonymous SNV NT5C3B:NM_052935:exon8:c.C597G:p.L199L exonic ENSG00000141698 NA synonymous SNV ENSG00000141698:ENST00000415460:exon7:c.C507G:p.L169L,ENSG00000141698:ENST00000269534:exon8:c.C573G:p.L191L,ENSG00000141698:ENST00000435506:exon8:c.C597G:p.L199L Score=532;Name=lod=194 NA 17q21.2 NA NA NA NA rs1128966 0.7 0.7 0.67 0.701877 0.7276 0.8323 0.8487 0.4433 0.7863 0.72 0.83 0.83 0.43 0.7531 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 0.932618 NA 0.31 0.759884 0.510667 NA 0.688 NA 4.4260826 1217 14 31795361 31795361 A G intronic HEATR5A NA NA NA exonic ENSG00000129493 NA unknown UNKNOWN NA NA 14q12 NA Name=CTCF NA NA rs3736917 0.2 0.2 0.185 0.173522 0.3976 0.0288 0.2349 0.087 0.1656 0.4 0.02 0.21 0.1 0.2929 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.383064 NA NA 0.38406 0.134287 NA 0.254 NA 4.42544 1217 14 68773298 68773298 C G intronic RAD51B NA NA NA intronic ENSG00000182185 NA NA NA NA NA 14q24.1 NA Name=PAX5-C20,PU.1,EBF,TBP,Pol2,MEF2A,NFKB 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 1217 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 1218 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 1218 20 56227532 56227532 T C exonic PMEPA1 NA synonymous SNV PMEPA1:NM_001255976:exon4:c.A357G:p.P119P,PMEPA1:NM_020182:exon4:c.A441G:p.P147P,PMEPA1:NM_199169:exon4:c.A336G:p.P112P,PMEPA1:NM_199170:exon4:c.A291G:p.P97P,PMEPA1:NM_199171:exon4:c.A291G:p.P97P exonic ENSG00000124225 NA synonymous SNV ENSG00000124225:ENST00000265626:exon4:c.A291G:p.P97P,ENSG00000124225:ENST00000341744:exon4:c.A441G:p.P147P,ENSG00000124225:ENST00000347215:exon4:c.A336G:p.P112P,ENSG00000124225:ENST00000395814:exon4:c.A291G:p.P97P,ENSG00000124225:ENST00000395816:exon4:c.A291G:p.P97P,ENSG00000124225:ENST00000414037:exon4:c.A357G:p.P119P,ENSG00000124225:ENST00000395819:exon5:c.A612G:p.P204P NA NA 20q13.31 Score=758;Name=V$PAX4_04 NA NA NA rs6025699 0.69 0.69 0.675 0.668131 0.7505 0.8363 0.6412 0.4334 0.7464 0.74 0.87 0.66 0.42 0.7279 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 0.365747 NA NA 0.763605 0.476623 ID=COSM1412695;OCCURENCE=1(large_intestine) 0.696 NA 4.4246616 1218 22 44285765 44285765 A G intronic PNPLA5 NA NA NA intronic ENSG00000100341 NA NA NA NA NA 22q13.31 NA Name=CTCF_(SC-5916),CTCF,SMC3_(ab9263),Rad21 Name=39 NA rs2017461 0.61 0.61 0.62 0.61861 0.508 0.9157 0.5821 0.4652 0.6595 0.51 0.9 0.58 0.46 0.5711 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 -0.073222 NA NA 0.496628 0.473218 NA 0.594 NA 4.424272 1218 4 88258483 88258483 T C exonic HSD17B11 NA nonsynonymous SNV HSD17B11:NM_016245:exon7:c.A848G:p.Q283R exonic ENSG00000198189 NA nonsynonymous SNV ENSG00000198189:ENST00000507286:exon6:c.A716G:p.Q239R,ENSG00000198189:ENST00000358290:exon7:c.A848G:p.Q283R NA NA 4q22.1 NA NA NA NA rs9991501 0.99 0.99 0.989 0.988419 0.9672 1 0.9928 0.9985 0.9816 0.97 1 1 1 0.9772 1 0.69 T 0.0 B 0.0 B 0.890 N 1.000 P -1.245 N 0.8 T -0.972 T 0.000 T 0.036 -2.429 0.003 0.103 -0.317 -0.128 10.133 -2.42939 NA 1 0.965108 0.995007 NA 0.964 NA 4.4238254 1218 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 1218 16 25944700 25944700 A G intronic HS3ST4 NA NA NA intronic ENSG00000182601 NA NA NA NA NA 16p12.1 Score=967;Name=V$AREB6_04 NA Name=3 NA rs4303490 0.47 0.47 0.448 0.474241 0.5159 0.124 0.5648 0.7088 0.411 0.51 0.13 0.57 0.73 0.5103 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 -0.284173 NA NA 0.550728 0.688356 NA 0.565 NA 4.423072 1218 2 120125910 120125910 C A intronic DBI NA NA NA intronic ENSG00000155368 NA NA NA NA NA 2q14.2 NA NA Name=2 NA rs2276596 0.18 0.18 0.167 0.160942 0.1998 0.2173 0.1527 0.1233 0.1196 0.19 0.23 0.15 0.13 0.1772 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17931 NA NA 0.2 0.13005 NA 0.145 NA 4.423 1218 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 1218 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 1218 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 1218 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 1218 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 1218 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 1218 6 33141161 33141161 A G exonic COL11A2 NA synonymous SNV COL11A2:NM_080679:exon34:c.T2379C:p.D793D,COL11A2:NM_080681:exon35:c.T2442C:p.D814D,COL11A2:NM_080680:exon37:c.T2700C:p.D900D exonic ENSG00000204248 NA synonymous SNV ENSG00000204248:ENST00000361917:exon34:c.T2379C:p.D793D,ENSG00000204248:ENST00000374708:exon35:c.T2442C:p.D814D,ENSG00000204248:ENST00000374712:exon35:c.T2457C:p.D819D,ENSG00000204248:ENST00000374713:exon35:c.T2559C:p.D853D,ENSG00000204248:ENST00000357486:exon36:c.T2637C:p.D879D,ENSG00000204248:ENST00000374714:exon36:c.T2622C:p.D874D,ENSG00000204248:ENST00000395197:exon36:c.T2520C:p.D840D,ENSG00000204248:ENST00000341947:exon37:c.T2700C:p.D900D NA NA 6p21.32 NA NA NA NA rs2229785 0.84 0.84 0.858 0.878195 0.7276 0.9762 0.8012 0.9191 0.9315 0.72 0.98 0.79 0.91 0.7871 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 0.443962 NA NA 0.730897 0.863666 NA 0.804 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039832.1;CLNDSDB=.;CLNDSDBID=. 4.4210696 1218 14 59951278 59951278 T C UTR5 JKAMP NM_016475:c.-30T>C,NM_001098625:c.-30T>C NA NA ncRNA_UTR5 ENSG00000050130 NA NA NA NA NA 14q23.1 NA Name=HEY1,ELF1_(SC-631),MafK_(ab50322),GATA-2,Pol2,MafK_(SC-477),PU.1,TBP,ELK4,Mxi1_(bHLH),SREBP1,GATA3_(SC-268),IRF1,MafF_(M8194) NA NA rs10140007 0.36 0.36 0.342 0.410743 0.3579 0.1835 0.4841 0.5749 0.4254 0.34 0.17 0.45 0.52 0.3856 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.198917 NA 0 0.335555 0.479275 NA 0.42 NA 4.420945 1218 4 88813875 88813875 T C intergenic MEPE,SPP1 dist=45907;dist=82927 NA NA ncRNA_exonic ENSG00000183199 NA NA NA Score=705;Name=lod=973 NA 4q22.1 NA NA NA NA rs3828554 0.16 0.16 0.125 0.178315 0.2942 0.0476 0.2709 0.0129 0.3517 0.28 0.04 0.3 0.01 0.2849 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178757 NA NA NA NA NA 0.13 NA 4.4209 1218 20 62369161 62369161 C G intronic LIME1 NA NA NA intronic ENSG00000203896 NA NA NA NA NA 20q13.33 NA Name=Pol2 NA NA rs2236511 0.15 0.15 0.09 0.129393 0.1064 0.2341 0.2363 0.0234 0.1125 0.11 0.23 0.23 0.07 0.3784 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.027763 2.027763 NA 0.094472 0.027878 NA 0.109 NA 4.420728 1218 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 1218 15 101591923 101591923 A G exonic LRRK1 NA synonymous SNV LRRK1:NM_024652:exon24:c.A3447G:p.T1149T exonic ENSG00000154237 NA synonymous SNV ENSG00000154237:ENST00000388948:exon24:c.A3447G:p.T1149T,ENSG00000154237:ENST00000284395:exon25:c.A3438G:p.T1146T NA NA 15q26.3 NA NA NA NA rs4965778 0.48 0.48 0.427 0.451078 0.4145 0.8006 0.598 0.1316 0.456 0.41 0.8 0.52 0.18 0.4456 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 -1.019838 NA NA 0.386569 0.154532 NA 0.399 NA 4.4199976 1218 19 56565164 56565164 G A exonic NLRP5 NA nonsynonymous SNV NLRP5:NM_153447:exon13:c.G3289A:p.A1097T exonic ENSG00000171487 NA nonsynonymous SNV ENSG00000171487:ENST00000390649:exon13:c.G3289A:p.A1097T NA NA 19q13.43 NA NA NA NA rs3103057 0.9 0.9 0.911 0.897364 0.9821 0.7877 0.9755 0.8699 0.9049 0.98 0.77 0.97 0.87 0.9523 0.98 0.26 T 0.0 B 0.0 B 0.132 N 1.000 P -0.55 N 0.73 T -0.962 T 0.000 T 0.009 0.469 6.548 -1.69 -0.797 -0.247 8.330 0.469301 NA 0.36 0.979212 0.904586 NA 0.964 NA 4.4197214 1218 10 7776831 7776831 C T intronic ITIH2 NA NA NA intronic ENSG00000151655 NA NA NA NA NA 10p14 NA Name=CTCF NA NA rs1926937 0.43 0.43 0.41 0.369808 0.5805 0.4018 0.4784 0.1127 0.3906 0.58 0.45 0.51 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 -0.232127 NA NA NA NA NA 0.435 NA 4.4195 1218 19 16024662 16024662 G C exonic CYP4F11 NA synonymous SNV CYP4F11:NM_021187:exon12:c.C1455G:p.T485T,CYP4F11:NM_001128932:exon13:c.C1455G:p.T485T exonic ENSG00000171903 NA synonymous SNV ENSG00000171903:ENST00000402119:exon12:c.C1455G:p.T485T,ENSG00000171903:ENST00000248041:exon13:c.C1455G:p.T485T NA NA 19p13.12 Score=738;Name=V$MYOGNF1_01 NA NA NA rs1064796 0.67 0.67 0.619 0.664137 0.7575 0.4276 0.6599 0.7489 0.7004 0.76 0.43 0.69 0.78 0.7271 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 -1.249174 NA NA 0.762674 0.74217 NA 0.732 NA 4.4193926 1218 10 61552774 61552774 C T exonic CCDC6 NA synonymous SNV CCDC6:NM_005436:exon9:c.G1326A:p.P442P exonic ENSG00000108091 NA synonymous SNV ENSG00000108091:ENST00000263102:exon9:c.G1326A:p.P442P NA NA 10q21.2 Score=856;Name=V$EGR1_01 NA NA NA rs1053265 0.64 0.64 0.597 0.611621 0.7505 0.6647 0.7795 0.3381 0.6646 0.75 0.64 0.78 0.36 0.7276 0.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289467 NA NA 0.769186 0.424875 ID=COSM1348403;OCCURENCE=1(large_intestine) 0.558 NA 4.4193806 1218 19 43433805 43433805 A G exonic PSG7 NA synonymous SNV PSG7:NM_001206650:exon2:c.T132C:p.I44I exonic ENSG00000221878 NA unknown UNKNOWN NA NA 19q13.31 NA NA NA NA rs1065178 0.4 0.4 0.37 0.445088 0.2704 0.4216 0.4294 0.5666 0.4959 0.29 0.4 0.37 0.58 0.3621 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37695 NA NA 0.281512 0.559746 NA 0.464 NA 4.4193213 1218 1 3761479 3761479 C T exonic CEP104 NA synonymous SNV CEP104:NM_014704:exon6:c.G558A:p.T186T exonic ENSG00000116198 NA synonymous SNV ENSG00000116198:ENST00000428079:exon5:c.G384A:p.T128T,ENSG00000116198:ENST00000378223:exon6:c.G558A:p.T186T,ENSG00000116198:ENST00000378230:exon6:c.G558A:p.T186T NA NA 1p36.32 NA NA NA NA rs2275822 0.37 0.37 0.371 0.349441 0.4294 0.3383 0.4928 0.2345 0.3323 0.43 0.35 0.46 0.26 0.3832 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012137 NA NA 0.434767 0.263277 NA 0.435 NA 4.4192996 1218 20 391170 391170 C T intronic RBCK1 NA NA NA exonic ENSG00000125826 NA synonymous SNV ENSG00000125826:ENST00000400247:exon2:c.C156T:p.Y52Y,ENSG00000125826:ENST00000475269:exon3:c.C282T:p.Y94Y NA NA 20p13 NA Name=Pol2-4H8 NA NA rs7059 0.42 0.42 0.41 0.404353 0.501 0.3413 0.3761 0.3729 0.4325 0.49 0.35 0.4 0.4 0.4374 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.607366 NA NA 0.475892 0.375 NA 0.471 NA 4.4190413 1218 9 2170512 2170512 G C intronic SMARCA2 NA NA NA intronic ENSG00000080503 NA NA NA Score=333;Name=lod=30 NA 9p24.3 Score=757;Name=V$MEF2_04 NA NA NA rs3793511 0.45 0.45 0.419 0.403754 0.5427 0.4554 0.5533 0.1846 0.3978 0.54 0.48 0.53 0.21 0.499 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.071615 2.071615 NA 0.539651 0.246709 ID=COSN168461;OCCURENCE=2(large_intestine) 0.377 NA 4.418649 1218 1 65867391 65867391 C G intronic DNAJC6 NA NA NA intronic ENSG00000116675 NA NA NA NA NA 1p31.3 NA NA Name=9 NA rs4592284 0.71 0.71 0.731 0.73143 0.5815 0.7927 0.6138 0.8971 0.682 0.57 0.78 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 3.147988 3.147988 NA NA NA NA 0.681 NA 4.4185 1218 16 81190613 81190613 A G exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN Score=472;Name=lod=110 NA 16q23.2 Score=862;Name=V$CREB_02 NA NA NA rs1453324 0.76 0.76 0.746 0.766773 0.8598 0.6974 0.745 0.6672 0.8926 0.86 0.69 0.76 0.67 0.8379 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 0.613986 NA NA 0.884101 0.729119 NA 0.63 NA 4.418199 1218 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 1218 20 47317276 47317276 C G intronic PREX1 NA NA NA intronic ENSG00000124126 NA NA NA NA NA 20q13.13 NA Name=c-Myc,Pol2 NA NA rs35913794 0.24 0.24 0.247 0.269369 0.2018 0.0952 0.1772 0.5204 0.2444 0.19 0.1 0.19 0.54 0.2005 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.771243 NA NA 0.18093 0.454607 ID=COSN166556;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.181 NA 4.41677 1218 4 190862155 190862155 T G UTR5 FRG1 NM_004477:c.-10T>G NA NA UTR5 ENSG00000109536 ENST00000226798:c.-10T>G,ENST00000524583:c.-11240T>G,ENST00000533157:c.-10T>G,ENST00000531991:c.-11218T>G NA NA NA NA 4q35.2 NA Name=Pol2-4H8,NFKB,TAF1,HEY1,FOXA1_(SC-101058),FOXA1_(C-20),Pol2,TR4,TBP,Pol2(b),GTF2F1_(RAP-74),Sin3Ak-20 NA NA rs4145515 0.29 0.29 0.284 0.26877 0.3221 0.2768 0.2205 0.2428 0.2751 0.32 0.27 0.27 0.27 0.2798 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.993676 NA NA 0.315116 0.255561 NA 0.022 NA 4.4163174 1218 20 44054349 44054349 T C exonic PIGT NA synonymous SNV PIGT:NM_001184730:exon10:c.T1314C:p.Y438Y,PIGT:NM_001184728:exon11:c.T1452C:p.Y484Y,PIGT:NM_001184729:exon11:c.T1419C:p.Y473Y,PIGT:NM_015937:exon12:c.T1620C:p.Y540Y exonic ENSG00000124155 NA synonymous SNV ENSG00000124155:ENST00000341555:exon7:c.T1038C:p.Y346Y,ENSG00000124155:ENST00000545755:exon9:c.T834C:p.Y278Y,ENSG00000124155:ENST00000279035:exon10:c.T1314C:p.Y438Y,ENSG00000124155:ENST00000372689:exon11:c.T1419C:p.Y473Y,ENSG00000124155:ENST00000535404:exon11:c.T1155C:p.Y385Y,ENSG00000124155:ENST00000543458:exon11:c.T1452C:p.Y484Y,ENSG00000124155:ENST00000279036:exon12:c.T1620C:p.Y540Y Score=558;Name=lod=248 NA 20q13.12 NA NA NA NA rs707577 0.7 0.7 0.731 0.709665 0.7505 0.5466 0.7061 0.8169 0.6933 0.76 0.52 0.7 0.83 0.7391 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 0.785768 NA NA 0.761047 0.799591 ID=COSM443902,COSM1483679;OCCURENCE=1(breast) 0.703 NA 4.4160196 1218 10 1061862 1061862 A G intronic GTPBP4 NA NA NA intronic ENSG00000107937 NA NA NA NA NA 10p15.3 NA Name=USF-1,CEBPB NA NA rs2306406 0.22 0.22 0.21 0.212061 0.1859 0.2877 0.2406 0.152 0.2219 0.2 0.28 0.23 0.17 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 -0.487772 NA NA 0.180814 0.150477 NA 0.203 NA 4.415386 1219 12 34175508 34175508 T C UTR5 ALG10 NM_032834:c.-27T>C NA NA ncRNA_exonic ENSG00000245482 NA NA NA NA NA 12p11.1 NA Name=Pol2-4H8,GABP,TAF1,NFKB,GATA-1,E2F1,HEY1,ELF1_(SC-631),HA-E2F1,Pol2,Pol2(phosphoS2),POU2F2,YY1,ELK4,Pol2(b),TBP,Oct-2,YY1_(C-20),NRSF,Sin3Ak-20,E2F4 NA NA rs12367881 0.2 0.2 0.169 0.172125 0.3887 0.0407 0.2161 0.0295 0.2464 0.39 0.05 0.24 0.04 0.3122 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.526753 NA NA 0.384535 0.083069 NA 0.225 NA 4.414565 1219 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 1219 17 35988672 35988672 C T exonic DDX52 NA synonymous SNV DDX52:NM_007010:exon6:c.G792A:p.R264R exonic ENSG00000141141 NA synonymous SNV ENSG00000141141:ENST00000349699:exon6:c.G792A:p.R264R,ENSG00000141141:ENST00000394367:exon7:c.G468A:p.R156R Score=662;Name=lod=656 NA 17q12 NA NA NA NA rs7224513 0.62 0.62 0.61 0.567891 0.7535 0.5526 0.7133 0.3986 0.5184 0.75 0.56 0.72 0.41 0.7049 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 1.1748 NA NA 0.793953 0.480708 NA 0.645 NA 4.4143136 1219 14 51716188 51716188 T G exonic TMX1 NA synonymous SNV TMX1:NM_030755:exon6:c.T492G:p.T164T exonic ENSG00000139921 NA synonymous SNV ENSG00000139921:ENST00000457354:exon6:c.T492G:p.T164T Score=521;Name=lod=175 NA 14q22.1 NA NA NA NA rs7161242 0.71 0.71 0.703 0.679712 0.7495 0.6349 0.7262 0.6536 0.6564 0.76 0.68 0.73 0.65 0.7322 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 1.855139 1.855139 NA 0.770859 0.659492 NA 0.754 NA 4.4141076 1219 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 1219 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 1219 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 1219 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 1219 22 51045190 51045190 C T exonic MAPK8IP2 NA unknown UNKNOWN exonic ENSG00000008735 NA synonymous SNV ENSG00000008735:ENST00000008876:exon7:c.C1344T:p.P448P,ENSG00000008735:ENST00000399908:exon7:c.C1431T:p.P477P,ENSG00000008735:ENST00000341339:exon8:c.C1089T:p.P363P,ENSG00000008735:ENST00000399912:exon9:c.C1431T:p.P477P,ENSG00000008735:ENST00000329492:exon10:c.C2226T:p.P742P,ENSG00000008735:ENST00000442429:exon11:c.C1395T:p.P465P Score=587;Name=lod=324 NA 22q13.33 NA NA NA NA rs1140555 0.62 0.62 0.636 0.617013 0.6431 0.8393 0.6138 0.3722 0.6943 0.63 0.84 0.61 0.36 0.6448 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 0.028862 NA NA 0.633227 0.418148 NA 0.667 NA 4.4122063 1219 5 180669370 180669370 A G intronic GNB2L1 NA NA NA intronic ENSG00000204628 NA NA NA NA NA 5q35.3 NA NA Name=36 NA rs2287715 0.38 0.38 0.421 NA NA NA NA NA NA 0.24 0.3 0.28 0.78 0.3323 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 1.004417 NA NA 0.255581 0.705175 NA 0.341 NA 4.412119 1219 4 151505322 151505322 T A UTR3 MAB21L2 NM_006439:c.*61T>A NA NA UTR3 ENSG00000181541 ENST00000317605:c.*61T>A NA NA NA NA 4q31.3 NA Name=CtBP2 NA NA rs13105060 0.71 0.71 0.653 0.632188 0.9215 0.7341 0.8775 0.1921 0.6503 0.92 0.76 0.88 0.19 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 -1.453428 NA NA NA NA NA 0.558 NA 4.4118334 1219 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 1219 5 6632909 6632909 G A intronic NSUN2 NA NA NA intronic ENSG00000037474 NA NA NA NA NA 5p15.31 NA Name=AP-2gamma,AP-2alpha,HA-E2F1 Name=28 NA rs571550 0.55 0.55 0.55 0.560903 0.5298 0.3899 0.6643 0.7254 0.4734 0.53 0.38 0.65 0.72 0.541 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.77291 1.77291 NA 0.517724 0.677985 NA 0.652 NA 4.411476 1219 5 34807928 34807928 C T exonic RAI14 NA synonymous SNV RAI14:NM_001145523:exon5:c.C321T:p.V107V,RAI14:NM_001145520:exon6:c.C345T:p.V115V,RAI14:NM_001145522:exon6:c.C345T:p.V115V,RAI14:NM_015577:exon6:c.C345T:p.V115V,RAI14:NM_001145521:exon7:c.C345T:p.V115V,RAI14:NM_001145525:exon8:c.C354T:p.V118V exonic ENSG00000039560 NA synonymous SNV ENSG00000039560:ENST00000397449:exon5:c.C324T:p.V108V,ENSG00000039560:ENST00000506376:exon5:c.C321T:p.V107V,ENSG00000039560:ENST00000265109:exon6:c.C345T:p.V115V,ENSG00000039560:ENST00000428746:exon6:c.C345T:p.V115V,ENSG00000039560:ENST00000508315:exon6:c.C345T:p.V115V,ENSG00000039560:ENST00000512625:exon6:c.C345T:p.V115V,ENSG00000039560:ENST00000512629:exon6:c.C345T:p.V115V,ENSG00000039560:ENST00000514873:exon6:c.C345T:p.V115V,ENSG00000039560:ENST00000503673:exon7:c.C345T:p.V115V,ENSG00000039560:ENST00000513974:exon7:c.C345T:p.V115V,ENSG00000039560:ENST00000514527:exon7:c.C345T:p.V115V,ENSG00000039560:ENST00000515799:exon8:c.C354T:p.V118V NA NA 5p13.2 NA NA NA NA rs6895634 0.37 0.37 0.345 0.389776 0.4264 0.3591 0.549 0.239 0.4744 0.41 0.33 0.54 0.22 0.4079 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.064809 NA NA 0.421279 0.27576 NA 0.362 NA 4.4110876 1219 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 1219 22 43289473 43289473 G A exonic PACSIN2 NA synonymous SNV PACSIN2:NM_001184970:exon3:c.C207T:p.L69L,PACSIN2:NM_001184971:exon3:c.C207T:p.L69L,PACSIN2:NM_007229:exon3:c.C207T:p.L69L exonic ENSG00000100266 NA synonymous SNV ENSG00000100266:ENST00000263246:exon3:c.C207T:p.L69L,ENSG00000100266:ENST00000337959:exon3:c.C207T:p.L69L,ENSG00000100266:ENST00000402229:exon3:c.C207T:p.L69L,ENSG00000100266:ENST00000403744:exon3:c.C207T:p.L69L,ENSG00000100266:ENST00000407585:exon3:c.C207T:p.L69L,ENSG00000100266:ENST00000418133:exon3:c.C207T:p.L69L,ENSG00000100266:ENST00000422336:exon3:c.C207T:p.L69L,ENSG00000100266:ENST00000453643:exon4:c.C207T:p.L69L NA NA 22q13.2 NA NA NA NA rs5759013 0.27 0.27 0.233 0.274361 0.4304 0.0933 0.3573 0.1581 0.3988 0.42 0.07 0.41 0.15 0.3761 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.814768 NA NA 0.449835 0.209016 NA 0.312 NA 4.4103316 1219 2 131520663 131520663 T C exonic AMER3 NA nonsynonymous SNV AMER3:NM_001105193:exon2:c.T1018C:p.S340P,AMER3:NM_001105194:exon2:c.T1018C:p.S340P,AMER3:NM_001105195:exon2:c.T1018C:p.S340P,AMER3:NM_152698:exon2:c.T1018C:p.S340P exonic ENSG00000178171 NA nonsynonymous SNV ENSG00000178171:ENST00000321420:exon2:c.T1018C:p.S340P,ENSG00000178171:ENST00000423981:exon2:c.T1018C:p.S340P NA NA 2q21.1 NA NA NA NA rs1905235 0.99 0.99 0.99 0.993411 0.9742 1 0.9928 1 0.998 0.98 1 0.99 1 0.9802 1 1 T 0.0 B 0.0 B 0.958 N 1.000 P -1.385 N 2.23 T -0.987 T 0.000 T 0.015 -2.853 0 0.659 -0.465 -0.168 2.498 -2.853133 NA 1 0.968605 0.993418 NA 1 NA 4.4103284 1219 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 1219 15 70960068 70960068 G A exonic UACA NA synonymous SNV UACA:NM_001008224:exon16:c.C2916T:p.Y972Y,UACA:NM_018003:exon16:c.C2955T:p.Y985Y exonic ENSG00000137831 NA synonymous SNV ENSG00000137831:ENST00000539319:exon13:c.C2628T:p.Y876Y,ENSG00000137831:ENST00000322954:exon16:c.C2955T:p.Y985Y,ENSG00000137831:ENST00000379983:exon16:c.C2916T:p.Y972Y,ENSG00000137831:ENST00000560441:exon16:c.C2910T:p.Y970Y Score=336;Name=lod=31 NA 15q23 NA NA NA NA rs934005 0.6 0.6 0.594 0.571685 0.7634 0.5327 0.7392 0.3177 0.6391 0.77 0.51 0.73 0.32 0.7048 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 -1.600604 NA NA 0.788506 0.364711 NA 0.63 NA 4.4099606 1219 7 103389954 103389954 A G intronic RELN NA NA NA intronic ENSG00000189056 NA NA NA Score=563;Name=lod=259 NA 7q22.1 NA NA NA NA rs607755 0.47 0.47 0.469 0.465455 0.5487 0.3859 0.451 0.4312 0.5184 0.53 0.39 0.48 0.44 0.496 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.037907 NA NA 0.545465 0.443032 NA 0.551 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081236.3;CLNDSDB=.;CLNDSDBID=. 4.409835 1219 1 36367780 36367780 A G intronic AGO1 NA NA NA intronic ENSG00000092847 NA NA NA Score=284;Name=lod=19 NA 1p34.3 NA NA NA NA rs595961 0.53 0.53 0.523 0.546326 0.1412 0.7748 0.4669 0.8843 0.3272 0.14 0.81 0.44 0.88 0.3055 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 1.037672 NA NA 0.143488 0.749206 NA 0.442 NA 4.409812 1219 17 76535948 76535948 T C exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon18:c.A2547G:p.L849L exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon18:c.A2547G:p.L849L,ENSG00000187775:ENST00000585328:exon18:c.A2547G:p.L849L NA NA 17q25.3 Score=827;Name=V$OCT1_04 NA NA NA rs7221209 0.76 0.76 0.767 0.738019 0.7545 0.7381 0.7161 0.7595 0.7076 0.76 0.75 0.72 0.79 0.7506 0.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.147362 NA NA 0.752856 0.787059 NA 0.725 NA 4.4087106 1219 16 1568402 1568402 A G intronic IFT140 NA NA NA intronic ENSG00000187535 NA NA NA NA NA 16p13.3 NA Name=ZNF263 NA NA rs2076434 0.27 0.27 0.287 0.288339 0.1859 0.3333 0.1614 0.4054 0.2791 0.2 0.31 0.18 0.39 0.2206 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125425 NA NA 0.185814 0.359254 NA 0.312 NA 4.407686 1219 1 159169641 159169641 T C exonic CADM3 NA synonymous SNV CADM3:NM_001127173:exon8:c.T1053C:p.L351L,CADM3:NM_021189:exon9:c.T1155C:p.L385L exonic ENSG00000162706 NA synonymous SNV ENSG00000162706:ENST00000368125:exon8:c.T1053C:p.L351L,ENSG00000162706:ENST00000368124:exon9:c.T1155C:p.L385L NA NA 1q23.2 Score=858;Name=V$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 1219 17 18065888 18065888 T C intronic MYO15A NA NA NA intronic ENSG00000091536 NA NA NA NA NA 17p11.2 NA NA NA NA rs62073604 0.16 0.16 0.173 0.156949 0.2038 0.0119 0.1744 0.2247 0.1544 0.2 0.01 0.21 0.25 0.1854 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.256919 NA NA 0.203314 0.205003 NA 0.261 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038999.1;CLNDSDB=.;CLNDSDBID=. 4.407486 1219 10 101715899 101715899 G A exonic DNMBP NA synonymous SNV DNMBP:NM_015221:exon4:c.C1332T:p.P444P exonic ENSG00000107554 NA synonymous SNV ENSG00000107554:ENST00000324109:exon4:c.C1332T:p.P444P,ENSG00000107554:ENST00000342239:exon4:c.C1332T:p.P444P NA NA 10q24.2 NA NA NA NA rs2862923 0.42 0.42 0.436 0.441494 0.4175 0.2579 0.4352 0.6558 0.3701 0.4 0.26 0.45 0.64 0.4161 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.011041 NA NA 0.425698 0.623241 NA 0.355 NA 4.4073686 1219 6 47847179 47847179 A G exonic PTCHD4 NA synonymous SNV PTCHD4:NM_001013732:exon3:c.T1401C:p.V467V exonic ENSG00000244694 NA synonymous SNV ENSG00000244694:ENST00000339488:exon3:c.T1401C:p.V467V NA NA 6p12.3 Score=752;Name=V$SRF_01 NA NA NA rs3799276 0.76 0.76 0.748 0.745607 0.7475 0.8016 0.8516 0.6445 0.7474 0.74 0.81 0.84 0.68 0.7674 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 -1.329882 NA NA 0.744767 0.666591 NA 0.819 NA 4.4069996 1219 15 90245253 90245253 C T exonic WDR93 NA synonymous SNV WDR93:NM_020212:exon2:c.C276T:p.T92T exonic ENSG00000140527 NA synonymous SNV ENSG00000140527:ENST00000268130:exon2:c.C276T:p.T92T,ENSG00000140527:ENST00000558000:exon2:c.C276T:p.T92T,ENSG00000140527:ENST00000560294:exon2:c.C276T:p.T92T NA NA 15q26.1 NA NA NA NA rs4316730 0.37 0.37 0.377 0.396565 0.4026 0.2063 0.3631 0.5234 0.4387 0.4 0.22 0.4 0.47 0.4097 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.096668 NA NA 0.44743 0.5 NA 0.514 NA 4.4069366 1219 16 817339 817339 G T intronic MSLN NA NA NA intronic ENSG00000102854 NA NA NA NA NA 16p13.3 NA Name=MafK_(ab50322),MafF_(M8194),MafK_(SC-477) NA NA rs3765325 0.22 0.22 0.221 0.222843 0.1769 0.2688 0.2349 0.2595 0.1646 0.18 0.26 0.19 0.29 0.2111 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.474375 NA NA 0.205257 0.22554 NA 0.13 NA 4.406743 1219 5 96232402 96232402 T A intronic ERAP2 NA NA NA intronic ENSG00000164308 NA NA NA NA NA 5q15 NA Name=PU.1 Name=18 NA rs2548536 0.55 0.55 0.51 0.547923 0.5199 0.5278 0.5793 0.5976 0.5082 0.52 0.58 0.59 0.55 0.5473 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.494648 NA NA 0.526098 0.591982 NA 0.659 NA 4.406702 1219 6 167754702 167754702 C T exonic TTLL2 NA synonymous SNV TTLL2:NM_031949:exon3:c.C1314T:p.D438D exonic ENSG00000120440 NA synonymous SNV ENSG00000120440:ENST00000239587:exon3:c.C1314T:p.D438D,ENSG00000120440:ENST00000515138:exon3:c.C1314T:p.D438D NA NA 6q27 NA NA NA NA rs909546 0.5 0.5 0.489 0.513379 0.3966 0.6181 0.4265 0.6437 0.411 0.4 0.59 0.42 0.62 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 -0.485987 NA NA 0.419186 0.610758 ID=COSM1240548;OCCURENCE=1(oesophagus) 0.457 NA 4.4060806 1219 17 53485186 53485186 C T intronic MMD NA NA NA intronic ENSG00000108960 NA NA NA NA NA 17q22 NA Name=HNF4A_(H-171),CEBPB,RXRA,SP1,FOXA2_(SC-6554),ELF1_(SC-631),p300,FOXA1_(C-20) Name=17 NA rs2286806 0.52 0.52 0.49 0.477037 0.5199 0.5992 0.5879 0.3298 0.4274 0.53 0.59 0.6 0.36 0.5275 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3534 NA NA 0.54686 0.360872 NA 0.486 NA 4.40574 1219 9 4722685 4722685 C G intronic AK3 NA NA NA intronic ENSG00000147853 NA NA NA NA NA 9p24.1 NA NA Name=2 NA rs10758645 0.52 0.52 0.469 0.485224 0.5944 0.7312 0.5677 0.1067 0.5726 0.59 0.72 0.57 0.14 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 0.237534 NA NA NA NA NA 0.449 NA 4.4056 1220 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 1220 12 55806238 55806238 A G intergenic OR6C65,OR6C76 dist=10987;dist=13800 NA NA ncRNA_exonic ENSG00000179899 NA NA NA NA NA 12q13.2 NA Name=USF-1,GATA2_(CG2-96) NA NA rs7300594 0.63 0.63 0.535 0.617612 0.5954 0.8185 0.6484 0.4818 0.5951 0.58 0.82 0.65 0.45 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 -0.081242 NA NA NA NA NA 0.587 NA 4.4046 1220 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 1220 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 1220 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 1220 15 75499861 75499861 G A exonic C15orf39 NA nonsynonymous SNV C15orf39:NM_015492:exon2:c.G1472A:p.G491D exonic ENSG00000167173 NA nonsynonymous SNV ENSG00000167173:ENST00000567617:exon1:c.G1472A:p.G491D,ENSG00000167173:ENST00000360639:exon2:c.G1472A:p.G491D,ENSG00000167173:ENST00000394987:exon2:c.G1472A:p.G491D NA NA 15q24.2 NA NA NA NA rs11072532 0.88 0.88 0.865 0.86861 0.9911 0.7897 0.9654 0.7118 0.9673 0.99 0.8 0.96 0.73 0.9482 0.99 0.64 T 0.002 B 0.006 B 0.397 N 1.000 P 1.7 L 0.01 T -0.957 T 0.000 T 0.387 1.278 10.17 -0.234 0.175 0.026 7.766 1.277688 1.277688 0.1 0.991153 0.756486 NA 0.841 NA 4.4028804 1220 5 137802404 137802404 C T intronic EGR1 NA NA NA intronic ENSG00000120738 NA NA NA NA NA 5q31.2 NA Name=JunD,Pol2,HEY1,Pol2-4H8 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 1220 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 1220 16 85011622 85011622 G A intronic ZDHHC7 NA NA NA intronic ENSG00000153786 NA NA NA NA NA 16q24.1 NA Name=CTCF Name=62 NA rs8044638 0.64 0.64 0.659 0.677316 0.5 0.62 0.7291 0.8782 0.6104 0.49 0.62 0.69 0.86 0.5833 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 0.746764 NA NA 0.514186 0.809686 NA 0.688 NA 4.402514 1220 17 3214181 3214181 T G ncRNA_exonic OR3A4P NA NA NA ncRNA_exonic ENSG00000180068 NA NA NA Score=444;Name=lod=85 NA 17p13.3 NA NA NA NA rs231678 0.42 0.42 0.381 0.436901 0.4165 0.4425 0.5634 0.3086 0.5358 0.42 0.45 0.54 0.31 0.4501 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.936462 1.936462 NA 0.398023 0.319337 NA 0.464 NA 4.4020436 1220 19 38991640 38991640 C G intronic RYR1 NA NA NA intronic ENSG00000196218 NA NA NA NA NA 19q13.2 NA NA NA NA rs2960323 0.24 0.24 0.225 0.260383 0.2117 0.1845 0.2507 0.3782 0.2362 0.22 0.17 0.24 0.36 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 1.609086 1.609086 NA 0.164186 0.332047 ID=COSM148608;OCCURENCE=1(stomach) 0.203 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079167.1|RCV000119723.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.402014 1220 X 6995315 6995315 C T exonic HDHD1 NA synonymous SNV HDHD1:NM_001178135:exon3:c.G456A:p.P152P,HDHD1:NM_001178136:exon3:c.G327A:p.P109P,HDHD1:NM_012080:exon3:c.G456A:p.P152P,HDHD1:NM_001135565:exon4:c.G525A:p.P175P exonic ENSG00000130021 NA synonymous SNV ENSG00000130021:ENST00000381077:exon3:c.G456A:p.P152P,ENSG00000130021:ENST00000412827:exon3:c.G327A:p.P109P,ENSG00000130021:ENST00000486446:exon3:c.G456A:p.P152P,ENSG00000130021:ENST00000540122:exon3:c.G456A:p.P152P,ENSG00000130021:ENST00000424830:exon4:c.G525A:p.P175P NA NA Xp22.31 NA NA NA NA rs2379206 0.64 0.64 0.63672 NA NA NA NA NA NA 0.56 0.64 0.67 0.73 0.672 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.572074 NA NA 0.592711 0.74018 NA 0.536 NA 4.4019556 1220 19 42128202 42128202 G A intronic CEACAM4 NA NA NA intronic ENSG00000105352 NA NA NA NA NA 19q13.2 NA NA Name=5 NA rs8111279 0.5 0.5 0.455 0.461462 0.5984 0.6319 0.6138 0.0779 0.5552 0.62 0.63 0.57 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 -0.070243 NA NA NA NA NA 0.449 NA 4.4016 1220 19 49967680 49967680 G A exonic ALDH16A1 NA synonymous SNV ALDH16A1:NM_001145396:exon10:c.G1185A:p.Q395Q,ALDH16A1:NM_153329:exon11:c.G1338A:p.Q446Q exonic ENSG00000161618,ENSG00000269469 NA synonymous SNV ENSG00000161618:ENST00000540132:exon8:c.G849A:p.Q283Q,ENSG00000161618:ENST00000433981:exon9:c.G843A:p.Q281Q,ENSG00000161618:ENST00000455361:exon10:c.G1185A:p.Q395Q,ENSG00000161618:ENST00000293350:exon11:c.G1338A:p.Q446Q NA NA 19q13.33 NA NA NA NA rs2293009 0.29 0.29 0.293 0.311502 0.4165 0.3363 0.2219 0.1256 0.4928 0.4 0.3 0.26 0.12 0.4391 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.587315 NA NA 0.41 0.171435 NA 0.333 NA 4.4010666 1220 14 51716467 51716467 G A exonic TMX1 NA synonymous SNV TMX1:NM_030755:exon7:c.G648A:p.P216P exonic ENSG00000139921 NA synonymous SNV ENSG00000139921:ENST00000457354:exon7:c.G648A:p.P216P Score=556;Name=lod=242 NA 14q22.1 NA NA NA NA rs7160810 0.74 0.74 0.763 0.711062 0.7505 0.6349 0.7392 0.7564 0.6677 0.76 0.68 0.75 0.76 0.743 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 0.936241 NA NA 0.772716 0.743109 NA 0.783 NA 4.4004506 1220 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 1220 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 1220 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 1220 22 50704661 50704661 T C exonic MAPK11 NA synonymous SNV MAPK11:NM_002751:exon9:c.A756G:p.S252S exonic ENSG00000185386 NA synonymous SNV ENSG00000185386:ENST00000330651:exon9:c.A756G:p.S252S,ENSG00000185386:ENST00000395764:exon9:c.A756G:p.S252S Score=483;Name=lod=122 NA 22q13.33 NA NA NA NA rs2076139 0.7 0.7 0.684 0.686901 0.7435 0.5724 0.7507 0.702 0.681 0.75 0.59 0.8 0.67 0.761 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 0.557772 NA NA 0.762116 0.721536 NA 0.746 NA 4.4000506 1220 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 1220 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 1220 9 140006425 140006425 C G exonic DPP7 NA synonymous SNV DPP7:NM_013379:exon10:c.G1107C:p.P369P exonic ENSG00000176978 NA synonymous SNV ENSG00000176978:ENST00000371579:exon10:c.G1107C:p.P369P NA NA 9q34.3 Score=758;Name=V$STAT1_01 NA NA NA rs10747048 0.77 0.77 0.762 0.782348 0.7535 0.6944 0.7406 0.8949 0.7802 0.75 0.7 0.77 0.87 0.7582 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.075942 NA NA 0.755116 0.867 NA 0.841 NA 4.3998506 1220 5 176517326 176517326 T C intronic FGFR4 NA NA NA intronic ENSG00000160867 NA NA NA NA Name=Height 5q35.2 Score=810;Name=V$GRE_C NA NA NA rs422421 0.85 0.85 0.82 0.853035 0.7684 1 0.8487 0.7451 0.9376 0.77 1 0.83 0.8 0.8318 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.096436 NA NA NA NA NA 0.913 NA 4.3998 1220 15 51217475 51217475 G A intronic AP4E1 NA NA NA intronic ENSG00000081014 NA NA NA NA NA 15q21.2 NA NA Name=3 NA rs2306332 0.6 0.6 0.624 0.570887 0.6004 0.63 0.4611 0.6354 0.4703 0.62 0.59 0.47 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 -0.309294 NA NA NA NA NA 0.529 NA 4.3996 1220 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 1220 17 20109189 20109189 C T exonic SPECC1 NA synonymous SNV SPECC1:NM_001033554:exon2:c.C1584T:p.N528N,SPECC1:NM_001033555:exon2:c.C1584T:p.N528N,SPECC1:NM_001243438:exon2:c.C1584T:p.N528N,SPECC1:NM_001033553:exon4:c.C1827T:p.N609N,SPECC1:NM_001243439:exon4:c.C1827T:p.N609N,SPECC1:NM_152904:exon4:c.C1827T:p.N609N exonic ENSG00000128487 NA synonymous SNV ENSG00000128487:ENST00000584527:exon1:c.C81T:p.N27N,ENSG00000128487:ENST00000395522:exon2:c.C1584T:p.N528N,ENSG00000128487:ENST00000395525:exon2:c.C1584T:p.N528N,ENSG00000128487:ENST00000395530:exon2:c.C1584T:p.N528N,ENSG00000128487:ENST00000261503:exon4:c.C1827T:p.N609N,ENSG00000128487:ENST00000395527:exon4:c.C1827T:p.N609N,ENSG00000128487:ENST00000395529:exon4:c.C1827T:p.N609N NA NA 17p11.2 NA NA NA NA rs2703807 0.51 0.51 0.509 0.522764 0.3986 0.7927 0.4669 0.348 0.6483 0.42 0.8 0.48 0.34 0.4747 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 -1.671355 NA NA 0.393872 0.354309 NA 0.391 NA 4.3994946 1220 16 21078693 21078693 T G exonic DNAH3 NA synonymous SNV DNAH3:NM_017539:exon24:c.A3429C:p.A1143A exonic ENSG00000158486 NA synonymous SNV ENSG00000158486:ENST00000261383:exon24:c.A3429C:p.A1143A,ENSG00000158486:ENST00000415178:exon24:c.A3429C:p.A1143A NA NA 16p12.3 NA NA NA NA rs861424 0.49 0.49 0.478 0.444489 0.4215 0.6766 0.3732 0.3812 0.365 0.42 0.69 0.39 0.42 0.439 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 1.039043 NA NA 0.40686 0.413676 NA 0.464 NA 4.3993066 1220 12 70956935 70956935 G A intronic PTPRB NA NA NA intronic ENSG00000127329 NA NA NA NA NA 12q15 NA Name=PU.1 NA NA rs11178291 0.16 0.16 0.169 0.186901 0.1918 0.131 0.1282 0.1747 0.2975 0.19 0.13 0.12 0.18 0.2175 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 0.077762 NA NA 0.192354 0.161809 NA 0.217 NA 4.398346 1220 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 1220 6 137325847 137325847 C T exonic IL20RA NA nonsynonymous SNV IL20RA:NM_014432:exon6:c.G775A:p.V259I exonic ENSG00000016402 NA nonsynonymous SNV ENSG00000016402:ENST00000367748:exon5:c.G442A:p.V148I,ENSG00000016402:ENST00000316649:exon6:c.G775A:p.V259I,ENSG00000016402:ENST00000541547:exon6:c.G628A:p.V210I NA NA 6q23.3 NA NA NA NA rs1555498 0.87 0.87 0.842 0.846645 0.9891 0.999 0.9438 0.4584 0.999 0.99 1 0.96 0.47 0.9527 1 0.8 T 0.001 B 0.001 B 0.000 N 1.000 P -0.46 N 1.91 T -1.051 T 0.025 T 0.058 -1.88 0.008 -0.049 0.031 -0.397 7.420 -1.880021 NA 0.86 0.993372 0.531548 NA 0.812 NA 4.3981614 1220 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 1220 20 62373983 62373983 G A intronic SLC2A4RG NA NA NA intronic ENSG00000125520 NA NA NA NA NA 20q13.33 NA NA Name=5 NA rs2256814 0.26 0.26 0.18 0.246605 0.168 0.621 0.2406 0.025 0.2454 0.18 0.62 0.17 0.03 0.2685 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.752627 NA NA 0.166045 0.047547 NA 0.138 NA 4.397455 1220 2 209190528 209190528 C G exonic PIKFYVE NA nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.C2993G:p.T998S exonic ENSG00000115020 NA nonsynonymous SNV ENSG00000115020:ENST00000452564:exon19:c.C2825G:p.T942S,ENSG00000115020:ENST00000264380:exon20:c.C2993G:p.T998S NA NA 2q34 NA NA NA NA rs893253 0.94 0.94 0.916 0.912141 0.995 0.9395 0.9769 0.7912 0.9162 1 0.94 0.97 0.81 0.9601 1 0.81 T 0.039 B 0.01 B 0.029 N 1.000 P 0.345 N 1.86 T -0.997 T 0.000 T 0.015 -1.979 0.007 -1.75 -0.278 0.250 3.691 -1.978853 NA 0.75 0.981628 0.808897 NA 0.913 NA 4.3966054 1220 9 137005023 137005023 C T exonic WDR5 NA synonymous SNV WDR5:NM_052821:exon1:c.C24T:p.P8P,WDR5:NM_017588:exon2:c.C24T:p.P8P exonic ENSG00000196363 NA synonymous SNV ENSG00000196363:ENST00000425041:exon1:c.C24T:p.P8P,ENSG00000196363:ENST00000358625:exon2:c.C24T:p.P8P NA NA 9q34.2 NA NA NA NA rs11556390 0.35 0.35 0.338 0.319489 0.4185 0.3562 0.438 0.1982 0.2597 0.43 0.35 0.41 0.18 0.4087 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.156282 NA NA 0.442907 0.213572 NA 0.413 NA 4.3965596 1220 17 11757556 11757556 C G exonic DNAH9 NA synonymous SNV DNAH9:NM_001372:exon50:c.C9744G:p.P3248P exonic ENSG00000007174 NA synonymous SNV ENSG00000007174:ENST00000579703:exon1:c.C186G:p.P62P,ENSG00000007174:ENST00000262442:exon50:c.C9744G:p.P3248P,ENSG00000007174:ENST00000454412:exon50:c.C9744G:p.P3248P NA NA 17p12 NA NA NA NA rs12449553 0.4 0.4 0.348 0.403554 0.4245 0.3403 0.5893 0.3336 0.41 0.41 0.35 0.54 0.34 0.4193 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.287544 NA NA 0.426512 0.336586 ID=COSM148194;OCCURENCE=1(stomach) 0.297 NA 4.3963546 1220 6 33037104 33037104 C T intronic HLA-DPA1 NA NA NA intronic ENSG00000231389 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs34950776 0.4 0.4 0.372 0.439297 0.1889 0.6796 0.2839 0.5809 0.3681 0.17 0.65 0.25 0.56 0.2395 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116584 NA NA 0.175286 0.459881 NA 0.362 NA 4.396314 1220 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 1220 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 1220 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 1220 9 82187750 82187750 A G splicing TLE4 NM_007005:exon1:c.44+1A>G NA NA exonic ENSG00000106829 NA synonymous SNV ENSG00000106829:ENST00000265284:exon1:c.A45G:p.P15P,ENSG00000106829:ENST00000376520:exon1:c.A45G:p.P15P,ENSG00000106829:ENST00000376537:exon1:c.A45G:p.P15P,ENSG00000106829:ENST00000376544:exon1:c.A45G:p.P15P,ENSG00000106829:ENST00000376552:exon1:c.A45G:p.P15P,ENSG00000106829:ENST00000414465:exon1:c.A45G:p.P15P,ENSG00000106829:ENST00000435650:exon1:c.A45G:p.P15P,ENSG00000106829:ENST00000461758:exon1:c.A45G:p.P15P,ENSG00000106829:ENST00000462803:exon1:c.A45G:p.P15P,ENSG00000106829:ENST00000470872:exon1:c.A45G:p.P15P Score=597;Name=lod=355 NA 9q21.31 NA NA Name=76 NA rs1934610 0.99 0.99 0.994 0.98762 0.9851 0.998 0.9827 0.9985 0.9683 0.99 1 0.98 1 0.9803 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.964701 1.964701 NA 0.972807 0.996218 NA 0.029 NA 4.3951263 1221 11 11292700 11292700 G C exonic GALNT18 NA synonymous SNV GALNT18:NM_198516:exon11:c.C1815G:p.L605L exonic ENSG00000110328 NA synonymous SNV ENSG00000110328:ENST00000227756:exon11:c.C1815G:p.L605L NA NA 11p15.3 NA NA NA NA rs10831567 0.41 0.41 0.408 0.400359 0.4294 0.38 0.5058 0.32 0.4254 0.45 0.37 0.48 0.36 0.4163 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.35476 NA NA 0.42606 0.353703 ID=COSM147145;OCCURENCE=1(stomach) 0.377 NA 4.3949066 1221 12 48919660 48919660 G A exonic OR8S1 NA synonymous SNV OR8S1:NM_001005203:exon1:c.G246A:p.L82L exonic ENSG00000197376 NA synonymous SNV ENSG00000197376:ENST00000310194:exon1:c.G246A:p.L82L NA NA 12q13.11 NA NA NA NA rs35367885 0.21 0.21 0.241 0.226837 0.4384 0.1488 0.2622 0.0371 0.3211 0.34 0.14 0.24 0.04 0.371 0.46 NA NA 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 0.462442 0.102587 NA NA NA 4.3948246 1221 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 1221 2 233785015 233785015 G A exonic NGEF NA synonymous SNV NGEF:NM_001114090:exon3:c.C531T:p.P177P,NGEF:NM_019850:exon5:c.C807T:p.P269P exonic ENSG00000066248 NA synonymous SNV ENSG00000066248:ENST00000373552:exon3:c.C531T:p.P177P,ENSG00000066248:ENST00000409079:exon3:c.C531T:p.P177P,ENSG00000066248:ENST00000264051:exon5:c.C807T:p.P269P NA NA 2q37.1 NA NA Name=2 NA rs778354 0.72 0.72 0.694 0.717252 0.7565 0.5625 0.8156 0.8359 0.6063 0.75 0.57 0.81 0.78 0.75 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 -1.455138 NA NA 0.765581 0.842034 ID=COSM1406319,COSM1406318;OCCURENCE=1(large_intestine) 0.819 NA 4.3945856 1221 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 1221 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 1221 8 124206394 124206394 C G intronic FAM83A NA NA NA intronic ENSG00000147689 NA NA NA NA NA 8q24.13 Score=921;Name=V$AREB6_01 NA NA NA rs7813460 0.19 0.19 0.168 0.170727 0.2028 0.2133 0.2061 0.0703 0.2045 0.21 0.26 0.2 0.08 0.1971 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018068 NA NA 0.205814 0.095325 NA 0.188 NA 4.394286 1221 15 86807761 86807761 A G exonic AGBL1 NA synonymous SNV AGBL1:NM_152336:exon10:c.A1221G:p.E407E exonic ENSG00000166748 NA synonymous SNV ENSG00000166748:ENST00000389298:exon3:c.A414G:p.E138E,ENSG00000166748:ENST00000421325:exon9:c.A1221G:p.E407E,ENSG00000166748:ENST00000441037:exon10:c.A1221G:p.E407E NA NA 15q25.3 NA NA NA NA rs10520618 0.47 0.47 0.459 0.505391 0.4215 0.3522 0.4798 0.6914 0.5164 0.41 0.38 0.48 0.65 0.4403 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463292 NA NA 0.410645 0.612078 NA 0.58 NA 4.3942216 1221 13 48669064 48669064 C T intronic MED4 NA NA NA intronic ENSG00000136146 NA NA NA NA NA 13q14.2 NA Name=Pol2,NFKB,Pol2-4H8,Pol2(b),TBP NA NA rs3809330 0.31 0.31 0.295 0.310304 0.1879 0.3135 0.2767 0.4977 0.2035 0.18 0.32 0.28 0.5 0.2238 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.647827 1.647827 NA 0.194574 0.429545 NA 0.377 NA 4.393726 1221 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 1221 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 1221 9 117186677 117186677 A G exonic DFNB31 NA synonymous SNV DFNB31:NM_001083885:exon6:c.T204C:p.G68G,DFNB31:NM_001173425:exon6:c.T1353C:p.G451G,DFNB31:NM_015404:exon6:c.T1353C:p.G451G exonic ENSG00000095397 NA synonymous SNV ENSG00000095397:ENST00000374059:exon2:c.T300C:p.G100G,ENSG00000095397:ENST00000265134:exon6:c.T204C:p.G68G,ENSG00000095397:ENST00000362057:exon6:c.T1353C:p.G451G NA NA 9q32 NA NA NA NA rs4979387 0.81 0.81 0.807 0.830072 0.7256 0.9395 0.8703 0.7821 0.8609 0.71 0.95 0.83 0.8 0.7941 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 1.096428 NA NA 0.753721 0.778484 NA 0.79 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000038868.2;CLNDSDB=.;CLNDSDBID=. 4.3932456 1221 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 1221 3 186338425 186338425 A C exonic AHSG NA synonymous SNV AHSG:NM_001622:exon7:c.A810C:p.T270T exonic ENSG00000145192 NA synonymous SNV ENSG00000145192:ENST00000273784:exon7:c.A813C:p.T271T,ENSG00000145192:ENST00000411641:exon7:c.A810C:p.T270T NA NA 3q27.3 NA Name=HEY1 NA NA rs1071592 0.79 0.79 0.797 0.814696 0.7634 0.8383 0.6614 0.8759 0.8691 0.74 0.84 0.72 0.85 0.7659 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 0.043529 NA NA 0.744535 0.847935 NA 0.804 NA 4.3928316 1221 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 1221 17 18044270 18044270 T C intronic MYO15A NA NA NA intronic ENSG00000091536 NA NA NA NA NA 17p11.2 NA Name=CTCF NA NA rs854779 0.47 0.47 0.483 0.445687 0.6074 0.0823 0.4957 0.6634 0.3241 0.61 0.08 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 -1.585061 NA NA NA NA ID=COSN165347;OCCURENCE=1(NS) 0.616 NA 4.3926 1221 17 29111125 29111125 T G UTR3 CRLF3 NM_015986:c.*80A>C NA NA ncRNA_UTR3 ENSG00000176390 NA NA NA NA NA 17q11.2 NA NA NA NA rs3752020 0.14 0.14 0.127 0.161741 0.1074 0.1359 0.1902 0.1354 0.2597 0.1 0.16 0.19 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 -0.212856 NA NA NA NA NA 0.152 NA 4.3926 1221 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 1221 19 56153868 56153868 G A UTR5 ZNF580 NM_207115:c.-7G>A,NM_016202:c.-7G>A,NM_001163423:c.-7G>A NA NA UTR5 ENSG00000213015 ENST00000592881:c.-7G>A,ENST00000325333:c.-7G>A,ENST00000590190:c.-7G>A,ENST00000543039:c.-7G>A,ENST00000545125:c.-7G>A,ENST00000592461:c.-7G>A NA NA NA NA 19q13.42 Score=849;Name=V$TAL1BETAITF2_01 Name=Pol2 NA NA rs310475 0.52 0.52 0.502 0.485423 0.6521 0.4772 0.549 0.2322 0.6196 0.68 0.56 0.56 0.21 0.6103 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.686892 1.686892 NA 0.678442 0.394675 NA 0.406 NA 4.3924914 1221 19 46180184 46180184 C T intronic GIPR NA NA NA intronic ENSG00000010310 NA NA NA NA NA 19q13.32 NA Name=Pol2,ELF1_(SC-631),ZEB1_(SC-25388) NA NA rs11672660 0.18 0.18 0.159 0.159545 0.2137 0.2083 0.1268 0.1165 0.135 0.21 0.22 0.14 0.12 0.1873 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.182834 NA NA 0.206512 0.112347 NA 0.167 NA 4.392488 1221 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 1221 20 58883605 58883605 T G ncRNA_intronic LOC284757 NA NA NA ncRNA_exonic ENSG00000207802 NA NA NA NA NA 20q13.33 NA NA NA NA rs6513497 0.19 0.19 0.161 0.190895 0.0795 0.121 0.1037 0.3986 0.1585 0.1 0.16 0.12 0.39 0.1199 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.339965 NA NA 0.075796 0.372768 NA 0.116 NA 4.3914706 1221 11 57996312 57996312 C G exonic OR10Q1 NA nonsynonymous SNV OR10Q1:NM_001004471:exon1:c.G36C:p.E12D exonic ENSG00000180475 NA nonsynonymous SNV ENSG00000180475:ENST00000316770:exon1:c.G36C:p.E12D NA NA 11q12.1 NA NA NA NA rs4245219 0.95 0.95 0.942 0.941294 0.9851 0.9593 0.9784 0.8359 0.9939 0.99 0.95 0.98 0.87 0.9719 0.99 0.61 T 0.0 B 0.0 B 0.067 N 1.000 P 0.36 N 8.11 T -0.896 T 0.000 T 0.017 -1.527 0.016 0.647 -0.270 -0.202 4.528 -1.526864 NA 0.64 0.984966 0.859796 NA 0.942 NA 4.3913674 1221 17 16842912 16842912 A G exonic TNFRSF13B NA synonymous SNV TNFRSF13B:NM_012452:exon5:c.T831C:p.S277S exonic ENSG00000240505 NA synonymous SNV ENSG00000240505:ENST00000583789:exon4:c.T693C:p.S231S,ENSG00000240505:ENST00000261652:exon5:c.T831C:p.S277S NA NA 17p11.2 NA NA NA NA rs11078355 0.56 0.56 0.538 0.595248 0.3718 0.7976 0.5706 0.6082 0.6166 0.37 0.79 0.55 0.6 0.4943 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 -0.426668 NA NA 0.409535 0.614668 NA 0.507 NA 4.3910316 1221 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 1221 X 135496398 135496398 G A exonic GPR112 NA synonymous SNV GPR112:NM_153834:exon25:c.G9117A:p.T3039T exonic ENSG00000156920 NA synonymous SNV ENSG00000156920:ENST00000287534:exon16:c.G8274A:p.T2758T,ENSG00000156920:ENST00000394141:exon22:c.G8502A:p.T2834T,ENSG00000156920:ENST00000412101:exon22:c.G8502A:p.T2834T,ENSG00000156920:ENST00000370652:exon23:c.G9117A:p.T3039T,ENSG00000156920:ENST00000394143:exon25:c.G9117A:p.T3039T NA NA Xq26.3 NA NA NA NA rs5930942 0.75 0.75 0.73052 NA NA NA NA NA NA 0.6 0.92 0.77 0.77 0.6696 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 -1.343173 NA NA 0.606421 0.770795 NA 0.457 NA 4.3906456 1221 19 11942615 11942615 A C exonic ZNF440 NA synonymous SNV ZNF440:NM_152357:exon4:c.A624C:p.A208A exonic ENSG00000171295 NA synonymous SNV ENSG00000171295:ENST00000304060:exon4:c.A624C:p.A208A,ENSG00000171295:ENST00000427505:exon4:c.A633C:p.A211A NA NA 19p13.2 NA NA NA NA rs394416 0.52 0.52 0.538 0.535343 0.4036 0.4206 0.4683 0.8714 0.3824 0.41 0.44 0.44 0.83 0.4452 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 -0.315464 NA NA 0.427309 0.798911 ID=COSM148513;OCCURENCE=1(stomach) 0.507 NA 4.3905576 1221 15 25423956 25423956 C T ncRNA_exonic SNORD115-10,SNORD115-12,SNORD115-5,SNORD115-9 NA NA NA ncRNA_exonic ENSG00000200503 NA NA NA NA NA 15q11.2 NA NA NA NA rs34859712 0.18 0.18 0.163 0.196286 0.0855 0.2649 0.0576 0.3464 0.135 0.09 0.27 0.07 0.29 0.1135 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.039499 NA NA 0.077968 0.300799 NA 0.225 NA 4.3896986 1221 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 1221 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 1221 6 31431813 31431813 A G ncRNA_exonic HCP5 NA NA NA ncRNA_exonic ENSG00000206337 NA NA NA NA NA 6p21.33 NA NA NA NA rs3130907 0.05 0.05 0.054 0.0413339 0.0845 0.004 0.0274 0.0386 0.0491 0.09 0.01 0.02 0.04 0.0787 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 -0.175368 NA NA 0.115 0.045166 NA 0.101 NA 4.3884666 1221 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 1221 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 1221 5 140180737 140180737 C T intronic PCDHA1,PCDHA2 NA NA NA intronic ENSG00000204969,ENSG00000204970 NA NA NA NA NA 5q31.3 NA Name=CTCF Name=47 NA rs3806845 0.59 0.59 0.579 0.601238 0.5388 0.5317 0.6052 0.7572 0.5235 0.53 0.54 0.56 0.74 0.5468 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.653886 NA NA 0.528023 0.731502 NA 0.594 NA 4.386377 1221 1 87101375 87101375 C G ncRNA_exonic CLCA3P NA NA NA ncRNA_exonic ENSG00000153923 NA NA NA Score=407;Name=lod=60 NA 1p22.3 NA NA NA NA rs2292830 0.48 0.48 0.49 0.477636 0.4225 0.4077 0.4582 0.7315 0.2771 0.43 0.4 0.46 0.68 0.4261 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.189147 NA NA 0.43203 0.67862 NA 0.413 NA 4.3860366 1221 15 57918069 57918069 A G exonic GCOM1,MYZAP NA synonymous SNV GCOM1:NM_001018090:exon5:c.A504G:p.A168A,GCOM1:NM_001018091:exon5:c.A504G:p.A168A,MYZAP:NM_001018100:exon5:c.A504G:p.A168A,MYZAP:NM_152451:exon5:c.A504G:p.A168A exonic ENSG00000137878,ENSG00000263155 NA synonymous SNV ENSG00000137878:ENST00000380561:exon4:c.A411G:p.A137A,ENSG00000137878:ENST00000396180:exon4:c.A411G:p.A137A,ENSG00000137878:ENST00000468886:exon4:c.A411G:p.A137A,ENSG00000137878:ENST00000496101:exon4:c.A411G:p.A137A,ENSG00000263155:ENST00000267853:exon5:c.A504G:p.A168A,ENSG00000263155:ENST00000380565:exon5:c.A504G:p.A168A,ENSG00000137878:ENST00000380568:exon5:c.A504G:p.A168A,ENSG00000137878:ENST00000380569:exon5:c.A504G:p.A168A,ENSG00000137878:ENST00000460962:exon5:c.A504G:p.A168A,ENSG00000137878:ENST00000463717:exon5:c.A504G:p.A168A,ENSG00000137878:ENST00000477282:exon5:c.A504G:p.A168A,ENSG00000137878:ENST00000482814:exon5:c.A504G:p.A168A,ENSG00000137878:ENST00000488175:exon5:c.A504G:p.A168A,ENSG00000137878:ENST00000496627:exon5:c.A504G:p.A168A,ENSG00000137878:ENST00000572390:exon5:c.A504G:p.A168A,ENSG00000137878:ENST00000574161:exon5:c.A504G:p.A168A,ENSG00000137878:ENST00000587652:exon5:c.A504G:p.A168A NA NA 15q21.3 NA NA NA NA rs2069133 0.5 0.5 0.467 0.534545 0.4026 0.5536 0.5821 0.5825 0.5521 0.4 0.52 0.56 0.56 0.4731 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.263437 NA NA 0.405056 0.553832 NA 0.486 NA 4.3859106 1221 12 99640428 99640428 T C exonic ANKS1B NA synonymous SNV ANKS1B:NM_152788:exon13:c.A1971G:p.S657S exonic ENSG00000185046 NA synonymous SNV ENSG00000185046:ENST00000547010:exon6:c.A711G:p.S237S,ENSG00000185046:ENST00000329257:exon13:c.A1971G:p.S657S,ENSG00000185046:ENST00000547776:exon13:c.A1971G:p.S657S NA NA 12q23.1 NA NA NA NA rs3751323 0.53 0.53 0.514 0.548323 0.3956 0.7937 0.5418 0.3926 0.6677 0.41 0.81 0.52 0.39 0.4807 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 0.105573 NA NA 0.40461 0.379462 NA 0.471 NA 4.3857566 1221 1 201112981 201112981 A G exonic TMEM9 NA synonymous SNV TMEM9:NM_016456:exon5:c.T366C:p.Y122Y exonic ENSG00000116857 NA synonymous SNV ENSG00000116857:ENST00000367330:exon4:c.T366C:p.Y122Y,ENSG00000116857:ENST00000455367:exon4:c.T387C:p.Y129Y,ENSG00000116857:ENST00000367329:exon5:c.T366C:p.Y122Y,ENSG00000116857:ENST00000367332:exon5:c.T375C:p.Y125Y,ENSG00000116857:ENST00000367333:exon5:c.T375C:p.Y125Y,ENSG00000116857:ENST00000367334:exon5:c.T366C:p.Y122Y,ENSG00000116857:ENST00000435310:exon5:c.T366C:p.Y122Y Score=340;Name=lod=32 NA 1q32.1 NA NA NA NA rs8158 0.71 0.71 0.708 0.693091 0.7644 0.626 0.7133 0.6362 0.7515 0.77 0.65 0.73 0.68 0.7481 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 -0.541435 NA NA 0.768721 0.660463 ID=COSM146726;OCCURENCE=1(stomach) 0.703 NA 4.3854456 1221 18 56203891 56203891 G T exonic ALPK2 NA synonymous SNV ALPK2:NM_052947:exon5:c.C3528A:p.P1176P exonic ENSG00000198796 NA synonymous SNV ENSG00000198796:ENST00000361673:exon5:c.C3528A:p.P1176P NA NA 18q21.32 NA Name=TCF12,POU2F2,Pol2,NFKB,CTCF_(C-20),ZEB1_(SC-25388),Pol2-4H8,EBF1_(C-8),Oct-2,EBF,PAX5-N19 NA NA rs3809978 0.7 0.7 0.661 0.671725 0.7674 0.7966 0.6772 0.4675 0.7168 0.78 0.81 0.7 0.43 0.7458 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 0.191394 NA NA 0.76814 0.516568 NA 0.645 NA 4.3853266 1222 6 33041226 33041226 C T intronic HLA-DPA1 NA NA NA intronic ENSG00000231389 NA NA NA NA NA 6p21.32 NA Name=ZNF263,Pol2,Pol2-4H8,NFKB,ELF1_(SC-631) NA NA rs4247257 0.4 0.4 0.388 0.444888 0.1869 0.6806 0.2824 0.6044 0.3671 0.17 0.65 0.24 0.57 0.2502 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.111791 NA NA 0.177925 0.483786 NA 0.377 NA 4.384975 1222 14 92268615 92268615 T G exonic TC2N NA nonsynonymous SNV TC2N:NM_001128595:exon4:c.A452C:p.K151T,TC2N:NM_001128596:exon4:c.A452C:p.K151T,TC2N:NM_152332:exon4:c.A452C:p.K151T exonic ENSG00000165929 NA nonsynonymous SNV ENSG00000165929:ENST00000340892:exon4:c.A452C:p.K151T,ENSG00000165929:ENST00000360594:exon4:c.A452C:p.K151T,ENSG00000165929:ENST00000435962:exon4:c.A452C:p.K151T,ENSG00000165929:ENST00000556018:exon4:c.A452C:p.K151T NA NA 14q32.12 NA NA NA NA rs2402073 0.98 0.98 0.971 0.966853 0.9712 1 0.9798 0.9107 0.9949 1 1 0.99 0.92 0.9773 1 0.73 T 0.0 B 0.0 B 0.014 N 1.000 P 0 N 3.4 T -0.991 T 0.000 T 0.095 -0.847 0.558 -0.357 -0.566 0.036 0.713 -0.846625 NA 0.37 0.999884 0.935542 NA 0.971 NA 4.3849494 1222 1 232650867 232650867 C T exonic SIPA1L2 NA synonymous SNV SIPA1L2:NM_020808:exon1:c.G219A:p.K73K exonic ENSG00000116991 NA synonymous SNV ENSG00000116991:ENST00000262861:exon1:c.G219A:p.K73K,ENSG00000116991:ENST00000366630:exon2:c.G219A:p.K73K Score=517;Name=lod=169 NA 1q42.2 NA NA NA NA rs4649383 0.58 0.58 0.571 0.555511 0.7952 0.3333 0.6369 0.4569 0.6135 0.8 0.31 0.66 0.48 0.6872 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 0.659118 NA NA 0.799372 0.506237 NA 0.703 NA 4.3848946 1222 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 1222 3 193336639 193336639 T C ncRNA_exonic OPA1-AS1 NA NA NA ncRNA_exonic ENSG00000224855 NA NA NA NA NA 3q29 NA NA NA NA rs3772393 0.37 0.37 0.368 0.392372 0.4284 0.2966 0.4265 0.4213 0.3906 0.43 0.26 0.39 0.41 0.423 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403514 NA NA 0.430581 0.418974 NA 0.42 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000081769.1|RCV000127274.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.3846856 1222 18 56202982 56202982 A T exonic ALPK2 NA synonymous SNV ALPK2:NM_052947:exon5:c.T4437A:p.A1479A exonic ENSG00000198796 NA synonymous SNV ENSG00000198796:ENST00000361673:exon5:c.T4437A:p.A1479A NA NA 18q21.32 NA Name=YY1,Oct-2,YY1_(C-20),Pol2-4H8,EBF1_(C-8),TAF1,ELF1_(SC-631),Pol2,POU2F2 NA NA rs3826594 0.7 0.7 0.67 0.672923 0.7674 0.7966 0.6758 0.4728 0.7168 0.78 0.81 0.7 0.43 0.7467 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 0.38237 NA NA 0.768256 0.518611 NA 0.645 NA 4.3843106 1222 4 126412575 126412575 A G exonic FAT4 NA synonymous SNV FAT4:NM_024582:exon17:c.A14598G:p.R4866R exonic ENSG00000196159 NA synonymous SNV ENSG00000196159:ENST00000335110:exon15:c.A9321G:p.R3107R,ENSG00000196159:ENST00000394329:exon17:c.A14598G:p.R4866R Score=524;Name=lod=180 NA 4q28.1 NA NA NA NA rs1014866 0.77 0.77 0.746 0.740615 0.7644 0.8492 0.7205 0.652 0.7382 0.77 0.84 0.75 0.68 0.7569 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 0.317133 NA NA 0.761395 0.710622 NA 0.746 NA 4.3839716 1222 17 7559037 7559037 C T intronic ATP1B2 NA NA NA intronic ENSG00000129244 NA NA NA NA NA 17p13.1 NA Name=EBF NA NA rs55831773 0.13 0.13 0.137 0.169329 0.2207 0.0764 0.1427 0.0726 0.362 0.21 0.07 0.15 0.07 0.1981 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.286937 2.286937 NA 0.197326 0.098729 NA 0.152 NA 4.383874 1222 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 1222 17 18775900 18775900 A G exonic PRPSAP2 NA synonymous SNV PRPSAP2:NM_001243940:exon4:c.A177G:p.T59T,PRPSAP2:NM_002767:exon5:c.A177G:p.T59T exonic ENSG00000141127 NA nonsynonymous SNV ENSG00000141127:ENST00000395656:exon3:c.A124G:p.K42E,ENSG00000141127:ENST00000492129:exon4:c.A124G:p.K42E,ENSG00000141127:ENST00000487101:exon5:c.A124G:p.K42E,ENSG00000141127:ENST00000575228:exon5:c.A124G:p.K42E NA NA 17p11.2 NA NA NA NA rs4393623 0.5 0.5 0.492 0.46246 0.5577 0.3294 0.5101 0.562 0.3333 0.54 0.35 0.52 0.57 0.4998 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.874719 NA NA 0.559186 0.556287 ID=COSM436169;OCCURENCE=1(breast) 0.609 NA 4.383314 1222 3 196051131 196051131 C T ncRNA_intronic TM4SF19-TCTEX1D2 NA NA NA ncRNA_exonic ENSG00000235897 NA NA NA NA NA 3q29 NA NA NA NA rs57405871 0.08 0.08 0.069 0.0625 0.1074 NA 0.0749 0.1051 0.0143 0.11 NA 0.08 0.12 0.077 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 -1.152045 NA NA 0.09907 0.113482 NA 0.051 NA 4.3831966 1222 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 1222 5 179218842 179218842 G A intergenic MAML1,LTC4S dist=14555;dist=2144 NA NA intergenic ENSG00000161021,ENSG00000213316 dist=14555;dist=2144 NA NA NA NA 5q35.3 NA NA NA NA rs55654737 0.25 0.25 0.257 0.228235 0.3459 0.1528 0.2536 0.2027 0.2014 0.36 0.13 0.27 0.22 0.2803 0.36 0 D 0.057 B 0.006 B . . 1.000 P . . . . -0.989 T 0.000 T . -0.159 3.221 0.744 -0.080 0.122 5.369 -0.159435 NA 0 0.324209 0.220571 NA 0.304 NA 4.3829244 1222 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 1222 17 4845768 4845768 G A intronic RNF167 NA NA NA intronic ENSG00000108523 NA NA NA Score=643;Name=lod=549 NA 17p13.2 NA NA Name=2 NA rs238247 0.37 0.37 0.347 0.322085 0.5616 0.1478 0.4424 0.2057 0.3272 0.57 0.14 0.49 0.25 0.4763 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.449366 1.449366 NA 0.579302 0.282342 NA 0.428 NA 4.382798 1222 14 22938211 22938211 G A intergenic OR4E2,DAD1 dist=803973;dist=95596 NA NA exonic ENSG00000256590 NA nonsynonymous SNV ENSG00000256590:ENST00000535880:exon2:c.C163T:p.R55W NA NA 14q11.2 NA NA NA NA rs17198805 0.09 0.09 0.087 0.0796725 0.1531 NA 0.1095 0.0749 0.0716 0.14 NA 0.12 0.08 0.1203 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.743977 2.743977 0.03 0.177184 0.089267 NA 0.058 NA 4.3827494 1222 9 27524731 27524731 A G exonic IFNK NA nonsynonymous SNV IFNK:NM_020124:exon1:c.A397G:p.K133E exonic ENSG00000147896 NA nonsynonymous SNV ENSG00000147896:ENST00000276943:exon1:c.A397G:p.K133E NA NA 9p21.2 NA NA NA NA rs700785 0.94 0.94 0.932 0.933506 0.9891 0.996 0.9755 0.8018 0.9601 1 0.99 0.97 0.78 0.9706 1 1 T 0.0 B 0.0 B 0.503 N 1.000 P -1.665 N 4.03 T -1.010 T 0.000 T 0.02 -1.135 0.114 1.2 -0.270 -0.062 10.719 -1.13453 NA 1 0.990928 0.795052 NA 0.884 NA 4.3827054 1222 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 1222 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 1222 6 170591923 170591923 T G UTR3 DLL1 NM_005618:c.*39A>C NA NA UTR3 ENSG00000198719 ENST00000366756:c.*39A>C NA NA NA NA 6q27 NA Name=ZNF263 NA NA rs1033583 0.27 0.27 0.277 0.250399 0.325 0.2411 0.2565 0.2088 0.2352 0.32 0.27 0.26 0.19 0.2812 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.84067 1.84067 NA 0.344651 0.210395 NA 0.297 NA 4.3824824 1222 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 1222 7 99691740 99691740 G A intronic MCM7 NA NA NA intronic ENSG00000166508 NA NA NA NA NA 7q22.1 NA Name=Pol2-4H8,MafK_(ab50322),Pol2,Pol2(phosphoS2),MafF_(M8194) Name=11 NA rs1527423 0.53 0.53 0.499 0.536941 0.5358 0.8026 0.5865 0.2194 0.6585 0.54 0.82 0.52 0.21 0.548 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 -1.3911 NA NA 0.534478 0.283163 NA 0.449 NA 4.381722 1222 3 126184941 126184941 C T intronic ZXDC NA NA NA intronic ENSG00000070476 NA NA NA NA NA 3q21.3 NA NA Name=4 NA rs1799389 0.49 0.49 0.449 0.454073 0.6183 0.5099 0.5187 0.1884 0.5409 0.63 0.52 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 0.291743 NA NA NA NA NA 0.471 NA 4.3817 1222 11 396701 396701 C T intronic PKP3 NA NA NA intronic ENSG00000184363 NA NA NA NA NA 11p15.5 NA Name=Rad21,CTCF_(SC-5916),CTCF_(C-20),CTCF,HDAC2_(SC-6296) 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 1222 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 1222 19 57868336 57868336 A G exonic ZNF304 NA nonsynonymous SNV ZNF304:NM_020657:exon3:c.A1099G:p.K367E exonic ENSG00000131845 NA nonsynonymous SNV ENSG00000131845:ENST00000282286:exon3:c.A1099G:p.K367E,ENSG00000131845:ENST00000391705:exon4:c.A1099G:p.K367E,ENSG00000131845:ENST00000443917:exon4:c.A1240G:p.K414E,ENSG00000131845:ENST00000598744:exon4:c.A973G:p.K325E NA NA 19q13.43 NA NA NA NA rs862709 0.99 0.99 0.983 0.991214 0.9791 0.9891 0.9957 0.9992 0.9918 0.98 0.98 1 1 0.9882 1 1 T 0.0 B 0.0 B . . 1.000 P 0.24 N 5.66 T -0.944 T 0.000 T 0.107 -1.467 0.018 1.48 0.161 0.925 8.379 -1.467324 NA 1 0.984767 0.996369 NA 1 NA 4.3812664 1222 21 34166343 34166343 C T exonic C21orf62 NA synonymous SNV C21orf62:NM_001162496:exon2:c.G390A:p.E130E,C21orf62:NM_019596:exon3:c.G390A:p.E130E,C21orf62:NM_001162495:exon4:c.G390A:p.E130E exonic ENSG00000205929 NA synonymous SNV ENSG00000205929:ENST00000487113:exon2:c.G390A:p.E130E,ENSG00000205929:ENST00000536776:exon2:c.G390A:p.E130E,ENSG00000205929:ENST00000382373:exon3:c.G531A:p.E177E,ENSG00000205929:ENST00000490358:exon3:c.G390A:p.E130E,ENSG00000205929:ENST00000479548:exon4:c.G390A:p.E130E Score=259;Name=lod=15 NA 21q22.11 NA NA NA NA rs2231390 0.77 0.77 0.754 0.727436 0.7565 0.9157 0.8127 0.5287 0.7117 0.77 0.94 0.8 0.55 0.7602 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 -0.636974 NA NA 0.769185 0.596759 NA 0.754 NA 4.3807816 1222 6 35391787 35391787 C T exonic PPARD NA synonymous SNV PPARD:NM_001171820:exon4:c.C195T:p.N65N,PPARD:NM_001171819:exon5:c.C372T:p.N124N,PPARD:NM_006238:exon6:c.C489T:p.N163N,PPARD:NM_177435:exon6:c.C489T:p.N163N,PPARD:NM_001171818:exon7:c.C489T:p.N163N exonic ENSG00000112033 NA synonymous SNV ENSG00000112033:ENST00000418635:exon4:c.C195T:p.N65N,ENSG00000112033:ENST00000540939:exon4:c.C180T:p.N60N,ENSG00000112033:ENST00000448077:exon5:c.C372T:p.N124N,ENSG00000112033:ENST00000360694:exon6:c.C489T:p.N163N,ENSG00000112033:ENST00000444397:exon6:c.C489T:p.N163N,ENSG00000112033:ENST00000311565:exon7:c.C489T:p.N163N,ENSG00000112033:ENST00000337400:exon7:c.C489T:p.N163N NA NA 6p21.31 Score=784;Name=V$COMP1_01 NA NA NA rs2076167 0.69 0.69 0.675 0.680511 0.7714 0.7361 0.7853 0.4017 0.8323 0.8 0.73 0.78 0.42 0.7539 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 -1.373046 NA NA 0.76093 0.435315 NA 0.543 NA 4.3804366 1222 1 202733238 202733238 C T exonic KDM5B NA synonymous SNV KDM5B:NM_006618:exon6:c.G747A:p.T249T exonic ENSG00000117139 NA synonymous SNV ENSG00000117139:ENST00000235790:exon6:c.G273A:p.T91T,ENSG00000117139:ENST00000367265:exon6:c.G747A:p.T249T,ENSG00000117139:ENST00000367264:exon7:c.G855A:p.T285T Score=524;Name=lod=179 NA 1q32.1 NA NA NA NA rs3196669 0.68 0.68 0.65 0.635383 0.7714 0.7679 0.8343 0.323 0.6401 0.79 0.77 0.82 0.31 0.7371 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 1.079006 NA NA 0.778023 0.376759 NA 0.587 NA 4.3801436 1222 5 176518784 176518784 C T exonic FGFR4 NA synonymous SNV FGFR4:NM_022963:exon5:c.C702T:p.R234R,FGFR4:NM_002011:exon6:c.C702T:p.R234R,FGFR4:NM_213647:exon6:c.C702T:p.R234R exonic ENSG00000160867 NA synonymous SNV ENSG00000160867:ENST00000393637:exon5:c.C702T:p.R234R,ENSG00000160867:ENST00000292408:exon6:c.C702T:p.R234R,ENSG00000160867:ENST00000292410:exon6:c.C702T:p.R234R,ENSG00000160867:ENST00000393648:exon6:c.C702T:p.R234R,ENSG00000160867:ENST00000502906:exon6:c.C702T:p.R234R Score=542;Name=lod=212 NA 5q35.2 NA NA NA NA rs452885 0.81 0.81 0.793 0.807109 0.7396 1 0.8271 0.6293 0.9039 0.74 1 0.81 0.71 0.7949 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.472237 NA NA 0.752093 0.66069 NA 0.855 NA 4.3800736 1222 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 1222 3 49739086 49739086 C T intronic RNF123 NA NA NA intronic ENSG00000164068 NA NA NA NA NA 3p21.31 NA Name=CTCF,CTCF_(C-20),Rad21 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 1222 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 1222 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 1222 1 202715284 202715284 G A exonic KDM5B NA synonymous SNV KDM5B:NM_006618:exon15:c.C2184T:p.Y728Y exonic ENSG00000117139 NA synonymous SNV ENSG00000117139:ENST00000235790:exon15:c.C1710T:p.Y570Y,ENSG00000117139:ENST00000367265:exon15:c.C2184T:p.Y728Y,ENSG00000117139:ENST00000367264:exon16:c.C2292T:p.Y764Y Score=516;Name=lod=167 NA 1q32.1 NA NA NA NA rs1141108 0.68 0.68 0.647 0.639177 0.7714 0.7837 0.8343 0.3222 0.6442 0.79 0.78 0.82 0.31 0.74 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 0.748256 NA NA 0.777558 0.376305 NA 0.587 NA 4.3777086 1222 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 1222 2 209010891 209010891 G A ncRNA_intronic LOC100507443 NA NA NA UTR5 ENSG00000182187 ENST00000260988:c.-47C>T NA NA NA NA 2q34 NA NA Name=2 NA rs2289917 0.23 0.23 0.226 0.227236 0.3986 0.1448 0.2118 0.1036 0.3139 0.38 0.13 0.25 0.11 0.3252 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.355739 2.355739 NA 0.398605 0.159782 NA 0.312 NA 4.377595 1222 11 64402695 64402695 T C intronic NRXN2 NA NA NA intronic ENSG00000110076 NA NA NA NA NA 11q13.1 NA Name=NRSF NA NA rs61884406 0.32 0.32 0.302 0.320088 0.1978 0.5129 0.2406 0.3926 0.2055 0.21 0.46 0.25 0.39 0.2413 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.101067 NA NA 0.183799 0.332948 NA 0.254 NA 4.377101 1222 11 3129027 3129027 G A exonic OSBPL5 NA synonymous SNV OSBPL5:NM_001144063:exon7:c.C636T:p.T212T,OSBPL5:NM_145638:exon7:c.C636T:p.T212T,OSBPL5:NM_020896:exon8:c.C840T:p.T280T exonic ENSG00000021762 NA synonymous SNV ENSG00000021762:ENST00000525498:exon6:c.C573T:p.T191T,ENSG00000021762:ENST00000348039:exon7:c.C636T:p.T212T,ENSG00000021762:ENST00000389989:exon7:c.C636T:p.T212T,ENSG00000021762:ENST00000263650:exon8:c.C840T:p.T280T NA NA 11p15.4 NA NA NA NA rs3741350 0.39 0.39 0.438 0.454073 0.4414 0.0496 0.3617 0.7844 0.5031 0.44 0.04 0.35 0.77 0.4191 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 -1.027349 NA NA 0.429386 0.71594 NA 0.522 NA 4.3767806 1222 17 1576369 1576369 C T intronic PRPF8 NA NA NA intronic ENSG00000174231 NA NA NA NA NA 17p13.3 NA NA Name=11 NA rs11078563 0.25 0.25 0.285 0.273562 0.1948 0.0893 0.147 0.6324 0.1493 0.19 0.07 0.14 0.64 0.2171 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.034717 NA NA 0.211744 0.555379 NA 0.297 NA 4.376356 1222 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 1222 14 101005236 101005236 A G exonic BEGAIN NA synonymous SNV BEGAIN:NM_001159531:exon6:c.T852C:p.H284H,BEGAIN:NM_020836:exon7:c.T852C:p.H284H exonic ENSG00000183092 NA synonymous SNV ENSG00000183092:ENST00000556751:exon5:c.T660C:p.H220H,ENSG00000183092:ENST00000443071:exon6:c.T852C:p.H284H,ENSG00000183092:ENST00000355173:exon7:c.T852C:p.H284H,ENSG00000183092:ENST00000553553:exon7:c.T888C:p.H296H,ENSG00000183092:ENST00000556188:exon7:c.T852C:p.H284H NA NA 14q32.2 NA NA NA NA rs12892571 0.65 0.65 0.576 0.644169 0.4115 0.7054 0.621 0.9697 0.3967 0.42 0.73 0.62 0.96 0.4885 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 -1.394893 NA NA 0.390672 0.876934 NA 0.522 NA 4.3759946 1222 6 29365241 29365241 T C exonic OR12D2 NA synonymous SNV OR12D2:NM_013936:exon1:c.T765C:p.L255L exonic ENSG00000168787 NA synonymous SNV ENSG00000168787:ENST00000383555:exon1:c.T765C:p.L255L NA NA 6p22.1 NA NA NA NA rs2073150 0.37 0.37 0.364 0.329673 0.4533 0.3641 0.3588 0.2254 0.2873 0.47 0.36 0.35 0.24 0.3908 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.243055 NA NA 0.44664 0.254136 NA 0.297 NA 4.3759266 1222 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 1223 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 1223 19 12405552 12405552 T C UTR5 ZNF44 NM_001164276:c.-43A>G,NM_016264:c.-43A>G NA NA UTR5 ENSG00000197857 ENST00000600003:c.-43A>G,ENST00000393337:c.-43A>G,ENST00000397742:c.-43A>G,ENST00000356109:c.-43A>G,ENST00000355684:c.-43A>G,ENST00000354656:c.-43A>G NA NA NA NA 19p13.2 NA Name=NF-YB,PU.1,TBP,Sin3Ak-20,RXRA,HEY1,ELF1_(SC-631),Pol2-4H8,TAF1,HA-E2F1,Pol2 NA NA rs386901 0.39 0.39 0.402 0.389577 0.2942 0.2956 0.2594 0.6853 0.2771 0.3 0.34 0.29 0.68 0.3634 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.294947 1.294947 NA 0.300836 0.552901 NA 0.442 NA 4.3748974 1223 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 1223 6 44320548 44320548 T A exonic SPATS1 NA synonymous SNV SPATS1:NM_145026:exon3:c.T225A:p.S75S exonic ENSG00000249481 NA synonymous SNV ENSG00000249481:ENST00000288390:exon2:c.T225A:p.S75S,ENSG00000249481:ENST00000323108:exon3:c.T225A:p.S75S,ENSG00000249481:ENST00000515220:exon3:c.T225A:p.S75S NA NA 6p21.1 NA NA NA NA rs4714783 0.74 0.74 0.707 0.702077 0.7714 0.7044 0.8256 0.6218 0.6493 0.75 0.75 0.84 0.63 0.743 0.84 . . . . . . . . 1.000 P . . . . -1.032 T 0.032 T . 0.107 4.575 1.45 0.310 0.488 3.189 0.106806 NA NA 0.777558 0.67567 NA 0.739 NA 4.3747086 1223 7 76609944 76609944 T C upstream DTX2P1-UPK3BP1-PMS2P11 NA NA NA ncRNA_exonic ENSG00000186704 NA NA NA Score=376;Name=lod=45 NA 7q11.23 NA NA NA NA rs2430307 0.67 0.67 0.7 0.661941 0.7922 0.3938 0.6225 0.854 0.5726 0.78 0.41 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 0.1544 NA NA NA NA NA 0.58 NA 4.3744666 1223 3 33063050 33063050 A G intronic GLB1 NA NA NA intronic ENSG00000170266 NA NA NA NA NA 3p22.3 NA NA NA NA rs13093698 0.16 0.16 0.151 0.163538 0.2058 0.0417 0.1556 0.2194 0.1759 0.22 0.04 0.15 0.2 0.2084 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.786201 2.786201 NA 0.212011 0.213495 NA 0.094 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078700.1;CLNDSDB=.;CLNDSDBID=. 4.373789 1223 15 83561606 83561606 A G intronic HOMER2 NA NA NA intronic ENSG00000103942 NA NA NA NA NA 15q25.2 NA Name=eGFP-GATA2 NA NA rs41310978 0.14 0.14 0.121 0.166134 0.2087 0.1458 0.1196 0.0113 0.3855 0.22 0.13 0.14 0.01 0.2064 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.309616 4.309616 NA 0.211132 0.042864 NA 0.101 NA 4.373768 1223 1 34667863 34667863 C A intronic C1orf94 NA NA NA intronic ENSG00000142698 NA NA NA Score=401;Name=lod=57 NA 1p34.3 NA NA NA NA rs12746310 0.14 0.14 0.131 0.138179 0.2028 0.0734 0.2176 0.0628 0.184 0.19 0.06 0.21 0.08 0.1899 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022716 NA NA 0.233605 0.102133 NA 0.094 NA 4.373695 1223 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 1223 7 143088526 143088526 T C UTR3 EPHA1 NM_005232:c.*24A>G NA NA UTR3 ENSG00000146904 ENST00000275815:c.*24A>G NA NA NA NA 7q34 NA Name=Pol2,Pol2-4H8 NA NA rs1131885 0.16 0.16 0.141 0.163538 0.3062 0.0506 0.1916 0.0257 0.2996 0.31 0.04 0.23 0.04 0.2796 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53932 NA NA 0.374186 0.07172 NA 0.203 NA 4.3733474 1223 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 1223 8 101648110 101648110 C G intronic SNX31 NA NA NA intronic ENSG00000174226 NA NA NA NA NA 8q22.3 NA Name=MafK_(ab50322) NA NA rs2187017 0.26 0.26 0.254 0.330671 0.165 0.2569 0.2795 0.5219 0.3548 0.17 0.21 0.28 0.46 0.2466 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141312 NA NA 0.216163 0.45438 NA 0.268 NA 4.372237 1223 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 1223 3 16312564 16312564 C T exonic OXNAD1 NA synonymous SNV OXNAD1:NM_138381:exon3:c.C105T:p.H35H exonic ENSG00000154814 NA synonymous SNV ENSG00000154814:ENST00000544043:exon2:c.C159T:p.H53H,ENSG00000154814:ENST00000285083:exon3:c.C105T:p.H35H,ENSG00000154814:ENST00000435829:exon3:c.C159T:p.H53H,ENSG00000154814:ENST00000442255:exon3:c.C105T:p.H35H,ENSG00000154814:ENST00000452581:exon3:c.C105T:p.H35H,ENSG00000154814:ENST00000605932:exon3:c.C105T:p.H35H,ENSG00000154814:ENST00000606098:exon3:c.C105T:p.H35H NA NA 3p25.1 NA NA NA NA rs842259 0.4 0.4 0.372 0.420727 0.4324 0.4752 0.4654 0.2617 0.5358 0.42 0.5 0.46 0.23 0.4374 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.192951 NA NA 0.425 0.308897 ID=COSM1566608;OCCURENCE=1(large_intestine) 0.377 NA 4.3718666 1223 7 21723573 21723573 A T intronic DNAH11 NA NA NA intronic ENSG00000105877 NA NA NA NA NA 7p15.3 NA NA NA NA rs59447021 0.23 0.23 0.225 0.226837 0.2137 0.2073 0.1383 0.2935 0.2331 0.22 0.2 0.18 0.31 0.2131 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.027684 NA NA 0.201566 0.280963 NA 0.217 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079624.1;CLNDSDB=.;CLNDSDBID=. 4.371634 1223 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 1223 1 237951451 237951451 A G intronic RYR2 NA NA NA intronic ENSG00000198626 NA NA NA NA NA 1q43 NA Name=MafK_(ab50322) NA NA rs2256242 0.62 0.62 0.642 0.636581 0.5099 0.7024 0.5187 0.7935 0.5706 0.5 0.7 0.52 0.78 0.575 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 1.280822 1.280822 NA 0.544283 0.770378 NA 0.623 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079376.1;CLNDSDB=.;CLNDSDBID=. 4.370817 1223 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 1223 19 38945851 38945851 T C intronic RYR1 NA NA NA intronic ENSG00000196218 NA NA NA NA NA 19q13.2 NA Name=NRSF Name=31 NA rs7254832 0.93 0.93 0.922 0.901957 0.8767 0.9901 0.9308 0.9418 0.7628 0.88 0.99 0.94 0.92 0.8799 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 -0.265456 NA NA 0.872791 0.930549 NA 0.913 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000119511.1;CLNDSDB=.;CLNDSDBID=. 4.370609 1223 19 17317955 17317955 A G exonic MYO9B NA synonymous SNV MYO9B:NM_001130065:exon35:c.A5526G:p.S1842S,MYO9B:NM_004145:exon35:c.A5526G:p.S1842S exonic ENSG00000099331 NA synonymous SNV ENSG00000099331:ENST00000597073:exon2:c.A45G:p.S15S,ENSG00000099331:ENST00000397274:exon34:c.A5526G:p.S1842S,ENSG00000099331:ENST00000595641:exon34:c.A5526G:p.S1842S,ENSG00000099331:ENST00000594824:exon35:c.A5526G:p.S1842S,ENSG00000099331:ENST00000595618:exon35:c.A5526G:p.S1842S NA NA 19p13.11 NA NA NA NA rs8110964 0.6 0.6 0.546 0.63139 0.3926 0.746 0.6772 0.7073 0.6237 0.4 0.78 0.64 0.67 0.5093 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 -0.330522 NA NA 0.394233 0.646024 ID=COSM438881,COSM438882;OCCURENCE=1(breast) 0.652 NA 4.3705336 1223 20 61512606 61512606 T C exonic DIDO1 NA nonsynonymous SNV DIDO1:NM_001193369:exon16:c.A4702G:p.T1568A,DIDO1:NM_033081:exon16:c.A4702G:p.T1568A exonic ENSG00000101191 NA nonsynonymous SNV ENSG00000101191:ENST00000266070:exon16:c.A4702G:p.T1568A,ENSG00000101191:ENST00000395343:exon16:c.A4702G:p.T1568A NA NA 20q13.33 NA NA NA NA rs910148 0.99 0.99 0.997 0.995008 0.9841 1 0.9885 0.9992 1 0.98 1 0.98 0.99 0.9924 1 0.4 T 0.0 B 0.0 B 0.323 N 1.000 P 0.145 N 3.07 T -1.051 T 0.000 T 0.019 0.215 5.159 -0.318 -0.144 -0.374 5.430 0.214907 NA 0.76 0.986406 0.996128 NA 0.63 NA 4.3704274 1223 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 1223 1 171077372 171077372 C G intronic FMO3 NA NA NA intronic ENSG00000007933 NA NA NA NA NA 1q24.3 NA Name=CTCF NA NA rs2066534 0.17 0.17 0.155 0.198882 0.1938 0.0238 0.2104 0.2723 0.2771 0.2 0.03 0.19 0.3 0.2145 0.3 NA NA 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 0.221628 0.255788 NA 0.304 NA 4.370072 1223 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 1223 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 1223 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 1223 8 17796383 17796383 C T exonic PCM1 NA synonymous SNV PCM1:NM_006197:exon5:c.C477T:p.N159N exonic ENSG00000078674 NA synonymous SNV ENSG00000078674:ENST00000523055:exon4:c.C477T:p.N159N,ENSG00000078674:ENST00000524226:exon4:c.C477T:p.N159N,ENSG00000078674:ENST00000325083:exon5:c.C477T:p.N159N,ENSG00000078674:ENST00000517730:exon5:c.C477T:p.N159N,ENSG00000078674:ENST00000518537:exon5:c.C477T:p.N159N,ENSG00000078674:ENST00000519253:exon5:c.C477T:p.N159N Score=389;Name=lod=51 NA 8p22 NA NA NA NA rs454755 0.58 0.58 0.722 0.690495 0.7634 0.62 0.6326 0.8094 0.5685 0.63 0.51 0.57 0.6 0.7324 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 -1.103043 NA NA 0.801946 0.840011 NA NA NA 4.3689206 1223 11 640349 640349 G A intronic DRD4 NA NA NA intronic ENSG00000069696 NA NA NA NA NA 11p15.5 Score=875;Name=V$MAZR_01 NA NA NA rs1870723 0.29 0.29 0.377 0.286741 0.2445 0.1895 0.3156 0.4743 0.1564 0.24 0.17 0.32 0.48 0.3866 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373728 NA NA NA NA NA 0.007 NA 4.3689 1223 1 236767176 236767176 C G intronic HEATR1 NA NA NA intronic ENSG00000119285 NA NA NA NA NA 1q43 NA Name=GATA-1 NA NA rs1529541 NA NA NA 0.428514 0.6312 0.4772 0.4856 0.2262 0.4029 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 0.593972 NA NA NA NA NA 0.486 NA 4.3688 1223 19 17305440 17305440 T C exonic MYO9B NA synonymous SNV MYO9B:NM_001130065:exon22:c.T3204C:p.G1068G,MYO9B:NM_004145:exon22:c.T3204C:p.G1068G exonic ENSG00000099331 NA synonymous SNV ENSG00000099331:ENST00000397274:exon21:c.T3204C:p.G1068G,ENSG00000099331:ENST00000595641:exon21:c.T3204C:p.G1068G,ENSG00000099331:ENST00000594824:exon22:c.T3204C:p.G1068G,ENSG00000099331:ENST00000595618:exon22:c.T3204C:p.G1068G NA NA 19p13.11 NA NA NA NA rs1064305 0.62 0.62 0.599 0.644169 0.3877 0.7401 0.7046 0.7905 0.5685 0.39 0.77 0.66 0.78 0.5089 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 0.208882 NA NA 0.401613 0.727566 NA 0.659 NA 4.3684536 1223 1 248845499 248845499 A G exonic OR14I1 NA nonsynonymous SNV OR14I1:NM_001004734:exon1:c.T107C:p.V36A exonic ENSG00000189181 NA nonsynonymous SNV ENSG00000189181:ENST00000342623:exon1:c.T107C:p.V36A NA NA 1q44 NA NA NA NA rs4462184 0.93 0.93 0.916 0.907149 0.997 1 0.9669 0.6679 1 1 1 0.96 0.7 0.9721 1 1 T 0.0 B 0.0 B 0.010 N 1.000 P -2.28 N 6.44 T -1.056 T 0.000 T 0.026 -1.248 0.052 1.38 -0.156 0.881 5.015 -1.248299 NA 1 0.995814 0.716296 NA 0.819 NA 4.3684194 1223 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 1223 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 1223 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 1223 6 80777608 80777608 G A intergenic TTK,BCKDHB dist=25364;dist=38736 NA NA ncRNA_exonic ENSG00000218418 NA NA NA Score=649;Name=lod=578 NA 6q14.1 NA NA NA NA rs3967160 0.42 0.42 0.383 0.417532 0.6332 0.3026 0.3905 0.239 0.5746 0.63 0.27 0.47 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 0.353791 NA NA NA NA NA 0.29 NA 4.3668 1223 12 91449990 91449990 C T exonic KERA NA synonymous SNV KERA:NM_007035:exon2:c.G69A:p.V23V exonic ENSG00000139330 NA synonymous SNV ENSG00000139330:ENST00000266719:exon2:c.G69A:p.V23V Score=432;Name=lod=76 NA 12q21.33 NA NA NA NA rs2735333 0.66 0.66 0.629 0.620008 0.7962 0.7976 0.7046 0.2443 0.7035 0.8 0.79 0.72 0.24 0.7249 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 0.432476 NA NA 0.778953 0.34832 NA 0.623 NA 4.3666136 1223 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 1223 8 144811278 144811278 G A intronic FAM83H NA NA NA intronic ENSG00000180921 NA NA NA NA NA 8q24.3 Score=916;Name=V$AP1_Q6 NA NA NA rs9969456 0.27 0.27 0.229 0.273962 0.1859 0.5139 0.2695 0.1536 0.2832 0.18 0.5 0.24 0.17 0.251 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.873708 NA NA 0.197028 0.13691 NA 0.21 NA 4.366072 1223 11 7686674 7686674 T C exonic CYB5R2 NA synonymous SNV CYB5R2:NM_016229:exon9:c.A762G:p.L254L exonic ENSG00000166394 NA synonymous SNV ENSG00000166394:ENST00000299498:exon9:c.A762G:p.L254L,ENSG00000166394:ENST00000533558:exon9:c.A762G:p.L254L Score=415;Name=lod=65 NA 11p15.4 NA NA NA NA rs13854 0.78 0.78 0.765 0.773562 0.7604 0.7728 0.67 0.854 0.7526 0.77 0.78 0.69 0.86 0.7725 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 0.387424 NA NA 0.767807 0.853476 NA 0.732 NA 4.3659596 1223 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 1223 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 1223 1 16812082 16812082 A G ncRNA_exonic CROCCP3 NA NA NA ncRNA_exonic ENSG00000080947 NA NA NA NA NA 1p36.13 NA NA NA NA rs2418644 0.19 0.19 0.148 0.224241 0.3012 0.0188 0.3876 0.1339 0.363 0.3 0.02 0.33 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 -1.039511 NA NA NA NA NA 0.254 NA 4.3654666 1224 5 150484889 150484889 G A intronic ANXA6 NA NA NA intronic ENSG00000197043 NA NA NA NA NA 5q33.1 NA Name=Pol2-4H8 NA NA rs868531 0.25 0.25 0.218 0.201278 0.1998 0.3869 0.366 0.0083 0.1554 0.2 0.44 0.34 0.02 0.2291 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.915074 NA NA 0.206535 0.045408 NA 0.159 NA 4.364565 1224 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$NF1_Q6 NA NA NA rs2227861 0.68 0.68 0.641 0.650958 0.7793 0.9067 0.7666 0.1838 0.8047 0.77 0.9 0.76 0.21 0.7502 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.184992 NA NA 0.772674 0.276895 NA 0.594 NA 4.3644926 1224 20 60892116 60892116 G A intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA Name=Pol2 Name=8 NA rs2236521 0.51 0.51 0.494 0.475639 0.5358 0.75 0.5115 0.1248 0.5798 0.55 0.77 0.52 0.16 0.5399 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.200317 NA NA 0.560252 0.172548 NA 0.399 NA 4.364048 1224 18 28968959 28968959 C T exonic DSG4 NA synonymous SNV DSG4:NM_001134453:exon5:c.C495T:p.S165S,DSG4:NM_177986:exon5:c.C495T:p.S165S exonic ENSG00000175065 NA synonymous SNV ENSG00000175065:ENST00000308128:exon5:c.C495T:p.S165S,ENSG00000175065:ENST00000359747:exon5:c.C495T:p.S165S Score=455;Name=lod=94 NA 18q12.1 NA NA NA NA rs9956865 0.83 0.83 0.84 0.804912 0.7654 0.9375 0.8847 0.7874 0.6759 0.76 0.96 0.87 0.78 0.7743 0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.011712 NA NA 0.762968 0.809578 NA 0.855 NA 4.3639986 1224 9 93639846 93639846 C G intronic SYK NA NA NA intronic ENSG00000165025 NA NA NA NA NA 9q22.2 Score=699;Name=V$BRACH_01 NA NA NA rs290223 0.31 0.31 0.303 0.301518 0.1909 0.5625 0.1571 0.2133 0.3681 0.21 0.57 0.18 0.25 0.2504 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.378421 NA NA 0.194767 0.230595 NA 0.268 NA 4.363933 1224 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 1224 4 83778839 83778839 T C intronic SEC31A NA NA NA intronic ENSG00000138674 NA NA NA Score=387;Name=lod=50 NA 4q21.22 NA NA NA NA rs7658703 0.33 0.33 0.336 0.351637 0.1928 0.4921 0.1686 0.5053 0.2924 0.18 0.47 0.18 0.52 0.2412 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.522897 1.522897 NA 0.202209 0.444394 ID=COSM149704;OCCURENCE=1(stomach) 0.558 NA 4.363791 1224 1 229738236 229738236 G A exonic TAF5L NA synonymous SNV TAF5L:NM_001025247:exon4:c.C678T:p.P226P,TAF5L:NM_014409:exon4:c.C678T:p.P226P exonic ENSG00000135801 NA synonymous SNV ENSG00000135801:ENST00000366676:exon3:c.C678T:p.P226P,ENSG00000135801:ENST00000258281:exon4:c.C678T:p.P226P,ENSG00000135801:ENST00000366675:exon4:c.C678T:p.P226P NA NA 1q42.13 Score=705;Name=V$P53_01 NA NA NA rs4925500 0.85 0.85 0.848 0.842053 0.7614 0.9415 0.7219 0.9281 0.7914 0.76 0.95 0.77 0.93 0.7898 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 0.27355 NA NA 0.751977 0.915797 ID=COSM1339966,COSM1339965;OCCURENCE=1(large_intestine) 0.754 NA 4.3634896 1224 18 74980809 74980809 G A exonic GALR1 NA nonsynonymous SNV GALR1:NM_001480:exon3:c.G1001A:p.S334N exonic ENSG00000166573 NA nonsynonymous SNV ENSG00000166573:ENST00000299727:exon3:c.G1001A:p.S334N NA NA 18q23 NA NA NA NA rs5376 0.92 0.92 0.907 0.90615 0.998 1 0.9755 0.6596 0.999 1 1 0.98 0.68 0.9731 1 0.68 T 0.0 B 0.0 B 0.047 N 1.000 P -0.82 N -0.49 T -0.988 T 0.000 T 0.005 0.167 4.897 1.01 -0.341 0.050 1.705 0.166723 NA 0.91 0.998837 0.694054 NA 0.862 NA 4.3633964 1224 4 1090625 1090625 G A exonic RNF212 NA synonymous SNV RNF212:NM_001131034:exon3:c.C174T:p.T58T,RNF212:NM_001193318:exon3:c.C174T:p.T58T,RNF212:NM_194439:exon3:c.C174T:p.T58T exonic ENSG00000178222 NA stopgain ENSG00000178222:ENST00000506730:exon2:c.C112T:p.R38X,ENSG00000178222:ENST00000508428:exon2:c.C112T:p.R38X NA NA 4p16.3 NA NA NA NA rs4045481 0.55 0.55 0.503 0.546725 0.6481 0.6498 0.5432 0.2988 0.6738 0.66 0.63 0.58 0.28 0.6353 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 0.679967 NA NA 0.686628 0.343622 NA 0.543 NA 4.3633053 1224 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 1224 19 55815894 55815894 T C intronic BRSK1 NA NA NA intronic ENSG00000160469 NA NA NA NA NA 19q13.42 NA Name=IRF1,c-Myc,ERalpha_a,BAF170,SIX5,GABP,Znf143_(16618-1-AP),ETS1,ELF1_(SC-631) Name=74 NA rs1172820 0.55 0.55 0.589 0.597843 0.5417 0.2153 0.5548 0.9387 0.6196 0.54 0.2 0.58 0.93 0.5526 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 1.417413 1.417413 NA 0.542986 0.890227 NA 0.594 NA 4.362714 1224 22 19969075 19969075 A G exonic ARVCF NA synonymous SNV ARVCF:NM_001670:exon5:c.T555C:p.S185S exonic ENSG00000099889 NA synonymous SNV ENSG00000099889:ENST00000344269:exon3:c.T366C:p.S122S,ENSG00000099889:ENST00000401994:exon3:c.T366C:p.S122S,ENSG00000099889:ENST00000406259:exon3:c.T555C:p.S185S,ENSG00000099889:ENST00000406522:exon3:c.T366C:p.S122S,ENSG00000099889:ENST00000263207:exon5:c.T555C:p.S185S Score=422;Name=lod=69 NA 22q11.21 NA NA NA NA rs2073747 0.72 0.72 0.721 0.721446 0.7674 0.6081 0.6455 0.8026 0.7352 0.77 0.61 0.68 0.78 0.7375 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 -0.238471 NA NA 0.799071 0.825674 NA 0.674 NA 4.3626956 1224 14 50120858 50120858 C T intronic POLE2 NA NA NA intronic ENSG00000100479 NA NA NA NA NA 14q21.3 Score=838;Name=V$FOXO3_01 NA NA NA rs3212323 0.19 0.19 0.166 0.170727 0.2256 0.0268 0.3141 0.2625 0.0368 0.21 0.05 0.3 0.22 0.1951 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.567772 NA NA 0.216977 0.250567 NA 0.109 NA 4.362323 1224 22 22556368 22556368 C T intergenic TOP3B,VPREB1 dist=219221;dist=42832 NA NA exonic ENSG00000211641 NA nonsynonymous SNV ENSG00000211641:ENST00000390286:exon2:c.C182T:p.P61L Score=358;Name=lod=38 NA 22q11.22 NA NA NA NA rs9306341 0.49 0.49 0.523 0.555911 0.493 0.3641 0.4539 0.7292 0.6564 0.45 0.38 0.46 0.72 0.4892 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.809846 1.809846 0 0.489151 0.681842 NA 0.645 NA 4.3619824 1224 3 133099245 133099245 G A exonic TMEM108 NA synonymous SNV TMEM108:NM_001136469:exon4:c.G690A:p.P230P,TMEM108:NM_023943:exon4:c.G690A:p.P230P exonic ENSG00000144868 NA synonymous SNV ENSG00000144868:ENST00000515826:exon3:c.G690A:p.P230P,ENSG00000144868:ENST00000321871:exon4:c.G690A:p.P230P,ENSG00000144868:ENST00000393130:exon4:c.G690A:p.P230P NA NA 3q22.1 NA NA NA NA rs1197314 0.39 0.39 0.366 0.380192 0.4473 0.3909 0.4856 0.2587 0.3896 0.43 0.42 0.46 0.24 0.4253 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.575029 NA NA 0.432326 0.299138 NA 0.442 NA 4.3617406 1224 10 32974969 32974969 A G exonic C10orf68 NA nonsynonymous SNV C10orf68:NM_024688:exon4:c.A115G:p.I39V exonic ENSG00000150076 NA nonsynonymous SNV ENSG00000150076:ENST00000375025:exon2:c.A115G:p.I39V,ENSG00000150076:ENST00000375028:exon3:c.A157G:p.I53V,ENSG00000150076:ENST00000302316:exon4:c.A115G:p.I39V,ENSG00000150076:ENST00000375030:exon7:c.A139G:p.I47V NA NA 10p11.22 NA NA NA NA rs1762526 0.92 0.92 0.907 0.916534 0.997 1 0.9539 0.7103 1 1 1 0.94 0.67 0.9762 1 1 T 0.0 B 0.0 B . . 1.000 P -1.1 N 1.72 T -0.967 T 0.000 T 0.038 -2.228 0.005 -1.15 -0.548 0.000 0.524 -2.228445 NA 1 0.998602 0.743985 NA 0.899 NA 4.3615314 1224 12 96688732 96688732 C T intronic CDK17 NA NA NA intronic ENSG00000059758 NA NA NA NA NA 12q23.1 NA NA Name=73 NA rs11835965 0.22 0.22 0.186 0.230232 0.2117 0.2579 0.2205 0.1399 0.3497 0.22 0.27 0.2 0.17 0.2263 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.088255 NA NA 0.200489 0.166742 ID=COSN164334;OCCURENCE=1(breast) 0.116 NA 4.361511 1224 10 3190499 3190499 A T ncRNA_exonic PITRM1-AS1 NA NA NA ncRNA_exonic ENSG00000237399 NA NA NA NA NA 10p15.2 NA NA NA NA rs61837966 0.05 0.05 0.058 0.0453275 0.0994 NA 0.062 0.0068 0.0767 0.1 NA 0.08 0.02 0.087 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 0.793064 NA NA 0.118956 0.022952 NA 0.043 NA 4.3613106 1224 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 1224 9 90388370 90388370 G A ncRNA_exonic CTSL3P NA NA NA ncRNA_exonic ENSG00000188029 NA NA NA Score=587;Name=lod=323 NA 9q21.33 NA NA NA NA rs7853691 0.39 0.39 0.396 0.374401 0.4394 0.3264 0.3213 0.4047 0.3538 0.47 0.3 0.32 0.44 0.4268 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.961085 NA NA 0.439302 0.436904 NA 0.464 NA 4.3611646 1224 8 102504974 102504974 C G UTR5 GRHL2 NM_024915:c.-24C>G NA NA UTR5 ENSG00000083307 ENST00000251808:c.-24C>G,ENST00000521085:c.-24C>G NA NA Score=789;Name=lod=2137 NA 8q22.3 NA Name=GR,Pol2(b),GATA3_(SC-268),c-Myc,Pol2-4H8,CTCF,Pol2,FOXA1_(C-20),HA-E2F1 Name=26 NA rs515622 0.96 0.96 0.981 0.961262 0.999 0.9067 0.9049 0.9992 0.9673 1 0.92 0.9 1 0.9743 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.212898 2.212898 NA 0.998953 0.99773 NA 0.978 NA 4.3610804 1224 9 116859769 116859769 T C intronic KIF12 NA NA NA intronic ENSG00000136883 NA NA NA NA NA 9q32 NA Name=GATA3_(SC-268) NA NA rs3810929 0.68 0.68 0.686 0.730032 0.6392 0.7073 0.6686 0.8094 0.7832 0.62 0.69 0.66 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 -0.428588 NA NA NA NA NA 0.775 NA 4.3608 1224 19 549678 549678 A G exonic GZMM NA nonsynonymous SNV GZMM:NM_001258351:exon5:c.A544G:p.R182G,GZMM:NM_005317:exon5:c.A661G:p.R221G exonic ENSG00000197540 NA nonsynonymous SNV ENSG00000197540:ENST00000264553:exon5:c.A661G:p.R221G NA NA 19p13.3 NA NA NA NA rs1599882 0.99 0.99 0.997 0.997204 0.9901 1 0.9942 1 1 0.99 1 0.99 1 0.9929 1 1 T 0.0 B 0.0 B 0.117 N 1.000 P -4.215 N -0.07 T -0.906 T 0.000 T 0.332 -0.993 0.271 1.17 0.186 -0.207 2.950 -0.993033 NA 1 0.989767 0.998865 NA 1 NA 4.3605664 1224 17 63534250 63534250 T C intronic AXIN2 NA NA NA UTR3 ENSG00000266076 ENST00000577662:c.*1447A>G NA NA NA NA 17q24.1 NA Name=Nrf1,c-Myc,Max,ELF1_(SC-631),BCL3,c-Jun,TAF1,E2F6_(H-50),E2F6 Name=12 NA rs8078753 0.89 0.89 0.898 0.903954 0.9056 0.8264 0.8948 0.9213 0.9652 0.9 0.82 0.91 0.93 0.9006 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 -2.370772 NA NA NA NA NA 0.906 NA 4.3604667 1224 22 37196871 37196871 G A UTR3 PVALB NM_002854:c.*63C>T NA NA UTR3 ENSG00000100362 ENST00000216200:c.*63C>T,ENST00000417718:c.*63C>T,ENST00000406910:c.*122C>T,ENST00000404171:c.*63C>T NA NA NA NA 22q12.3 Score=810;Name=V$GFI1_01 NA NA NA rs3484 0.5 0.5 0.495 0.507588 0.5119 0.7024 0.4813 0.3457 0.5399 0.51 0.67 0.48 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 -0.737331 NA NA 0.461031 0.40896 NA 0.457 NA 4.3604024 1224 1 162345091 162345091 G A exonic C1orf111 NA nonsynonymous SNV C1orf111:NM_182581:exon2:c.C206T:p.A69V exonic ENSG00000171722 NA nonsynonymous SNV ENSG00000171722:ENST00000367935:exon2:c.C206T:p.A69V NA NA 1q23.3 NA NA NA NA rs164181 0.95 0.95 0.935 0.938498 0.998 1 0.9755 0.7874 0.9918 1 1 0.96 0.8 0.9788 1 1 T 0.0 B 0.0 B 0.431 N 1.000 P -1.95 N 1.6 T -0.954 T 0.005 T 0.024 -1.513 0.016 1.25 -0.182 -0.090 7.416 -1.513186 NA 0.43 0.996163 0.816614 NA 0.928 NA 4.3603704 1224 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 1224 17 20924523 20924523 G A exonic USP22 NA synonymous SNV USP22:NM_015276:exon3:c.C321T:p.Y107Y exonic ENSG00000124422 NA synonymous SNV ENSG00000124422:ENST00000261497:exon3:c.C321T:p.Y107Y,ENSG00000124422:ENST00000476111:exon3:c.C6T:p.Y2Y,ENSG00000124422:ENST00000537526:exon3:c.C285T:p.Y95Y,ENSG00000124422:ENST00000584538:exon3:c.C6T:p.Y2Y Score=670;Name=lod=704 NA 17p11.2 NA NA NA NA rs2291037 0.61 0.61 0.585 0.626997 0.7833 0.4345 0.7032 0.4728 0.819 0.78 0.48 0.67 0.47 0.7309 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 0.840779 NA NA 0.792528 0.518029 NA 0.638 NA 4.3599386 1224 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 1224 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 1224 21 45844751 45844751 A G exonic TRPM2 NA nonsynonymous SNV TRPM2:NM_003307:exon24:c.A3566G:p.Q1189R exonic ENSG00000142185 NA nonsynonymous SNV ENSG00000142185:ENST00000397928:exon24:c.A3566G:p.Q1189R,ENSG00000142185:ENST00000300481:exon25:c.A3506G:p.Q1169R,ENSG00000142185:ENST00000300482:exon25:c.A3566G:p.Q1189R,ENSG00000142185:ENST00000397932:exon25:c.A3716G:p.Q1239R NA NA 21q22.3 NA NA NA NA rs9978351 0.95 0.95 0.965 0.950479 0.998 0.9593 0.9078 0.913 0.9734 1 0.96 0.93 0.9 0.977 1 0.63 T 0.0 B 0.0 B 0.698 N 1.000 P -0.895 N 1.59 T -1.011 T 0.000 T 0.044 -2.45 0.003 -1.31 -0.387 0.653 4.636 -2.449711 NA 1 0.999418 0.935198 NA 0.928 NA 4.3589154 1224 8 2005676 2005676 A G intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA Name=5 NA rs3765208 0.62 0.62 0.627 0.607228 0.6412 0.4087 0.6888 0.7194 0.5675 0.65 0.45 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 -0.19746 NA NA NA NA NA 0.587 NA 4.3588 1224 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 1224 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 1224 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 1224 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 1224 17 65341976 65341976 A G intronic PSMD12 NA NA NA intronic ENSG00000197170 NA NA NA Score=676;Name=lod=745 NA 17q24.2 NA NA NA NA rs62086002 0.2 0.2 0.19 0.197883 0.2256 0.1042 0.1556 0.2685 0.2004 0.21 0.12 0.15 0.3 0.2039 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.081045 NA NA 0.212442 0.276668 NA 0.174 NA 4.358058 1224 14 92088016 92088016 G A exonic CATSPERB NA synonymous SNV CATSPERB:NM_024764:exon19:c.C2196T:p.I732I exonic ENSG00000133962 NA synonymous SNV ENSG00000133962:ENST00000256343:exon19:c.C2196T:p.I732I NA NA 14q32.12 NA Name=CEBPB NA NA rs1296082 0.8 0.8 0.763 0.800319 0.7714 0.9752 0.8184 0.6278 0.8701 0.77 0.97 0.81 0.64 0.7897 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 0.007597 NA NA 0.747558 0.640944 NA 0.739 NA 4.3580086 1224 12 51636259 51636259 C T exonic DAZAP2 NA synonymous SNV DAZAP2:NM_001136266:exon4:c.C447T:p.L149L exonic ENSG00000183283 NA synonymous SNV ENSG00000183283:ENST00000549555:exon4:c.C447T:p.L149L Score=784;Name=lod=2042 NA 12q13.13 NA NA NA NA rs1049467 0.77 0.77 0.776 0.813299 0.7614 0.8988 0.8617 0.7905 0.7751 0.69 0.89 0.81 0.73 0.7791 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 -0.925254 NA NA 0.768264 0.798003 NA 0.783 NA 4.3579026 1224 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 1224 11 2424684 2424684 A C exonic TSSC4 NA nonsynonymous SNV TSSC4:NM_005706:exon2:c.A821C:p.H274P exonic ENSG00000184281 NA nonsynonymous SNV ENSG00000184281:ENST00000451491:exon2:c.A821C:p.H274P,ENSG00000184281:ENST00000333256:exon3:c.A821C:p.H274P,ENSG00000184281:ENST00000380996:exon4:c.A629C:p.H210P NA NA 11p15.5 NA NA NA NA rs2234283 0.99 0.99 1 0.996605 0.993 1 0.9899 0.9992 0.998 0.99 1 0.99 1 0.9936 1 0.61 T 0.0 B 0.0 B 0.135 N 1.000 P -1.95 N 2.57 T -0.954 T 0.000 T 0.082 -1.295 0.039 0.662 -0.187 0.464 0.542 -1.294673 NA 0.23 0.990226 0.999086 NA 0.935 NA 4.3565074 1224 16 81941319 81941319 C T exonic PLCG2 NA synonymous SNV PLCG2:NM_002661:exon16:c.C1497T:p.A499A exonic ENSG00000197943 NA synonymous SNV ENSG00000197943:ENST00000359376:exon16:c.C1497T:p.A499A NA NA 16q23.3 Score=756;Name=V$TCF11MAFG_01 NA NA NA rs1143689 0.8 0.8 0.779 0.77496 0.7535 0.9544 0.8746 0.5802 0.8047 0.73 0.97 0.86 0.63 0.7837 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 -0.836006 NA NA 0.773097 0.616808 NA 0.732 NA 4.3563696 1224 11 65649774 65649774 A G exonic CTSW NA nonsynonymous SNV CTSW:NM_001335:exon4:c.A415G:p.S139G exonic ENSG00000172543 NA nonsynonymous SNV ENSG00000172543:ENST00000307886:exon4:c.A415G:p.S139G,ENSG00000172543:ENST00000526034:exon4:c.A412G:p.S138G,ENSG00000172543:ENST00000528419:exon4:c.A415G:p.S139G NA NA 11q13.1 NA NA NA NA rs604630 0.94 0.94 0.93 0.927316 0.998 1 0.964 0.7451 1 1 1 0.97 0.78 0.9798 1 1 T 0.0 B 0.0 B 0.530 N 1.000 P -2.355 N 1.93 T -0.930 T 0.000 T 0.209 -1.432 0.021 -1.7 -0.592 -0.760 1.071 -1.431803 NA 1 0.999185 0.805089 NA 0.913 NA 4.3563484 1224 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 1224 9 100076896 100076896 G A ncRNA_intronic LOC100499484-C9ORF174 NA NA NA ncRNA_intronic ENSG00000255036 NA NA NA NA NA 9q22.33 NA NA NA NA rs3747502 0.18 0.18 0.169 0.173522 0.0994 0.1597 0.0965 0.3896 0.0266 0.1 0.16 0.1 0.38 0.1198 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.943122 NA NA 0.092209 0.362914 NA 0.138 NA 4.3552576 1225 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$PAX5_02 NA NA NA rs1798631 0.79 0.79 0.788 0.808107 0.7644 0.9325 0.8646 0.6823 0.8548 0.74 0.93 0.83 0.67 0.7869 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486398 NA NA 0.761744 0.697231 ID=COSM446261;OCCURENCE=1(breast) 0.79 NA 4.3536226 1225 12 6579757 6579757 T C UTR5 VAMP1 NM_016830:c.-60A>G,NM_014231:c.-60A>G,NM_199245:c.-60A>G NA NA UTR5 ENSG00000139190 ENST00000361716:c.-60A>G,ENST00000400911:c.-60A>G,ENST00000535180:c.-60A>G,ENST00000396308:c.-60A>G NA NA NA NA 12p13.31 NA Name=GTF2F1_(RAP-74),TBP,Egr-1,Pol2(b),Sin3Ak-20,PAX5-C20,NRSF,YY1_(C-20),TAL1_(SC-12984),Oct-2,NELFe,HEY1,NFKB,HMGN3,TAF1,Pol2-4H8,TAF7_(SQ-8),TCF12,GTF2B,POU2F2,E2F6,Pol2(phosphoS2),Pol2,CHD2_(N-1250) Name=2 NA rs2532489 0.99 0.99 0.995 0.996805 0.9881 1 0.9986 1 0.9969 0.99 1 1 0.99 NA 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.611852 1.611852 NA 0.992143 0.998555 NA 0.928 NA 4.3530904 1225 2 172216969 172216969 T C exonic METTL8 NA unknown UNKNOWN exonic ENSG00000123600 NA synonymous SNV ENSG00000123600:ENST00000375258:exon3:c.A198G:p.K66K,ENSG00000123600:ENST00000392599:exon3:c.A198G:p.K66K,ENSG00000123600:ENST00000442778:exon3:c.A198G:p.K66K,ENSG00000123600:ENST00000447486:exon3:c.A48G:p.K16K,ENSG00000123600:ENST00000392604:exon4:c.A198G:p.K66K,ENSG00000123600:ENST00000442541:exon4:c.A198G:p.K66K,ENSG00000123600:ENST00000453846:exon4:c.A198G:p.K66K NA NA 2q31.1 NA NA NA NA rs3731986 0.3 0.3 0.294 0.311502 0.327 0.1498 0.2565 0.4788 0.2751 0.32 0.12 0.3 0.49 0.3084 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.428364 NA NA 0.345233 0.460962 NA 0.333 NA 4.3527003 1225 7 36324436 36324436 G A intronic EEPD1 NA NA NA intronic ENSG00000122547 NA NA NA NA NA 7p14.2 Score=778;Name=V$MIF1_01 NA Name=4 NA rs13232200 0.38 0.38 0.336 0.33746 0.5805 0.1885 0.4986 0.1861 0.3313 0.6 0.17 0.51 0.18 0.4872 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281394 NA NA 0.579786 0.248071 NA 0.428 NA 4.352514 1225 1 234529570 234529570 G A exonic TARBP1 NA synonymous SNV TARBP1:NM_005646:exon27:c.C4257T:p.V1419V exonic ENSG00000059588 NA synonymous SNV ENSG00000059588:ENST00000040877:exon27:c.C4257T:p.V1419V NA NA 1q42.2 NA NA NA NA rs2175593 0.51 0.51 0.505 0.503994 0.4334 0.494 0.5677 0.6089 0.3998 0.45 0.48 0.57 0.58 0.4539 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.190368 NA NA 0.427326 0.567635 NA 0.529 NA 4.3520406 1225 11 57509429 57509429 A G ncRNA_intronic TMX2-CTNND1 NA NA NA intronic ENSG00000211450,ENSG00000254462 NA NA NA Score=512;Name=lod=161 NA 11q12.1 NA Name=MEF2C_(SC-13268),Oct-2,TBP,Egr-1,POU2F2,Pol2,HMGN3,TAF1,NFKB,Pol2-4H8,MEF2A Name=59 NA rs635663 0.95 0.95 0.939 0.934105 0.999 0.999 0.9885 0.7708 0.9826 1 1 0.98 0.79 0.9842 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.934849 1.934849 NA 0.998193 0.838331 NA 0.739 NA 4.3519403 1225 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 1225 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 1225 10 43615505 43615505 G A intronic RET NA NA NA intronic ENSG00000165731 NA NA NA NA NA 10q11.21 NA NA NA NA rs2472737 0.19 0.19 0.177 0.173123 0.2147 0.1974 0.1873 0.1256 0.1595 0.21 0.2 0.2 0.12 0.2127 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.743132 NA NA 0.221395 0.151384 NA 0.261 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=No_MEN2_disease|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000021870.1|RCV000082053.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.351205 1225 19 1357082 1357082 T C exonic MUM1 NA synonymous SNV MUM1:NM_032853:exon3:c.T135C:p.S45S exonic ENSG00000160953 NA synonymous SNV ENSG00000160953:ENST00000415183:exon2:c.T135C:p.S45S,ENSG00000160953:ENST00000587460:exon2:c.T135C:p.S45S,ENSG00000160953:ENST00000588810:exon2:c.T135C:p.S45S,ENSG00000160953:ENST00000591433:exon2:c.T135C:p.S45S,ENSG00000160953:ENST00000591806:exon2:c.T135C:p.S45S,ENSG00000160953:ENST00000344663:exon3:c.T135C:p.S45S,ENSG00000160953:ENST00000591337:exon3:c.T135C:p.S45S,ENSG00000160953:ENST00000592374:exon3:c.T135C:p.S45S Score=451;Name=lod=91 NA 19p13.3 NA NA NA NA rs713042 0.71 0.71 0.718 0.71266 0.7684 0.5565 0.755 0.7436 0.7444 0.77 0.58 0.77 0.72 0.7492 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 1.377411 1.377411 NA 0.797907 0.748298 NA 0.674 NA 4.3511596 1225 3 151171542 151171542 A G exonic IGSF10 NA synonymous SNV IGSF10:NM_178822:exon3:c.T345C:p.N115N exonic ENSG00000152580 NA synonymous SNV ENSG00000152580:ENST00000282466:exon3:c.T345C:p.N115N Score=534;Name=lod=198 NA 3q25.1 NA NA NA NA rs7621591 0.81 0.81 0.826 0.811701 0.7714 0.7649 0.781 0.8926 0.8139 0.77 0.78 0.78 0.91 0.7738 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 0.905629 NA NA 0.770415 0.859879 NA 0.732 NA 4.3510516 1225 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 1225 4 95539267 95539267 G A exonic PDLIM5 NA nonsynonymous SNV PDLIM5:NM_001256425:exon7:c.G58A:p.A20T,PDLIM5:NM_001256428:exon7:c.G667A:p.A223T,PDLIM5:NM_001011513:exon8:c.G706A:p.A236T,PDLIM5:NM_006457:exon8:c.G1033A:p.A345T,PDLIM5:NM_001256427:exon9:c.G724A:p.A242T,PDLIM5:NM_001256426:exon12:c.G1120A:p.A374T exonic ENSG00000163110 NA nonsynonymous SNV ENSG00000163110:ENST00000542407:exon7:c.G667A:p.A223T,ENSG00000163110:ENST00000317968:exon8:c.G1033A:p.A345T,ENSG00000163110:ENST00000437932:exon8:c.G706A:p.A236T,ENSG00000163110:ENST00000503974:exon9:c.G724A:p.A242T,ENSG00000163110:ENST00000514743:exon11:c.G1120A:p.A374T NA NA 4q22.3 NA NA NA NA rs966845 1 1 0.997 0.993411 0.995 1 0.9942 0.9992 0.9765 1 1 0.99 1 0.9935 1 1 T 0.013 B 0.003 B 0.065 N 0.960 P -0.695 N 0.68 T -0.956 T 0.000 T 0.21 -1.598 0.014 1.63 -0.175 0.306 3.147 -1.597612 NA 0.92 0.993837 0.995915 NA 0.993 NA 4.3509964 1225 16 3254972 3254972 T C exonic OR1F1 NA synonymous SNV OR1F1:NM_012360:exon1:c.T726C:p.G242G exonic ENSG00000168124 NA synonymous SNV ENSG00000168124:ENST00000304646:exon1:c.T726C:p.G242G NA NA 16p13.3 NA NA NA NA rs2075851 0.41 0.41 0.357 0.390176 0.4294 0.5685 0.5101 0.1203 0.4458 0.44 0.55 0.48 0.13 0.4489 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.001782 NA NA 0.437442 0.187528 NA 0.275 NA 4.3509246 1225 15 70351788 70351788 T C exonic TLE3 NA synonymous SNV TLE3:NM_001105192:exon10:c.A726G:p.G242G,TLE3:NM_005078:exon10:c.A726G:p.G242G,TLE3:NM_020908:exon10:c.A726G:p.G242G exonic ENSG00000140332 NA synonymous SNV ENSG00000140332:ENST00000539550:exon8:c.A558G:p.G186G,ENSG00000140332:ENST00000560589:exon8:c.A558G:p.G186G,ENSG00000140332:ENST00000558201:exon9:c.A744G:p.G248G,ENSG00000140332:ENST00000559048:exon9:c.A741G:p.G247G,ENSG00000140332:ENST00000560939:exon9:c.A741G:p.G247G,ENSG00000140332:ENST00000317509:exon10:c.A726G:p.G242G,ENSG00000140332:ENST00000440567:exon10:c.A705G:p.G235G,ENSG00000140332:ENST00000442299:exon10:c.A726G:p.G242G,ENSG00000140332:ENST00000451782:exon10:c.A726G:p.G242G,ENSG00000140332:ENST00000557907:exon10:c.A726G:p.G242G,ENSG00000140332:ENST00000557919:exon10:c.A726G:p.G242G,ENSG00000140332:ENST00000557997:exon10:c.A726G:p.G242G,ENSG00000140332:ENST00000558379:exon10:c.A726G:p.G242G,ENSG00000140332:ENST00000558939:exon10:c.A726G:p.G242G,ENSG00000140332:ENST00000559929:exon10:c.A756G:p.G252G,ENSG00000140332:ENST00000561453:exon10:c.A726G:p.G242G Score=527;Name=lod=184 NA 15q23 NA NA NA NA rs2133977 0.71 0.71 0.689 0.674321 0.7853 0.6954 0.8329 0.4917 0.6728 0.8 0.7 0.82 0.51 0.7541 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 1.175155 NA NA 0.776532 0.55789 NA 0.754 NA 4.3507346 1225 12 101017445 101017445 T C exonic GAS2L3 NA synonymous SNV GAS2L3:NM_174942:exon10:c.T862C:p.L288L exonic ENSG00000139354 NA synonymous SNV ENSG00000139354:ENST00000266754:exon9:c.T862C:p.L288L,ENSG00000139354:ENST00000539410:exon9:c.T862C:p.L288L,ENSG00000139354:ENST00000537247:exon10:c.T550C:p.L184L,ENSG00000139354:ENST00000547754:exon10:c.T862C:p.L288L Score=610;Name=lod=402 NA 12q23.1 NA NA NA NA rs1469385 0.82 0.82 0.796 0.795527 0.7793 0.9554 0.8588 0.6815 0.7566 0.78 0.95 0.84 0.7 0.7829 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 0.699264 NA NA 0.753953 0.69882 NA 0.696 NA 4.3505136 1225 2 1079320 1079320 C T exonic SNTG2 NA synonymous SNV SNTG2:NM_018968:exon2:c.C189T:p.G63G exonic ENSG00000172554 NA synonymous SNV ENSG00000172554:ENST00000308624:exon2:c.C189T:p.G63G,ENSG00000172554:ENST00000407292:exon2:c.C189T:p.G63G,ENSG00000172554:ENST00000450962:exon2:c.C189T:p.G63G,ENSG00000172554:ENST00000452177:exon2:c.C189T:p.G63G Score=378;Name=lod=46 NA 2p25.3 NA NA NA NA rs4971432 0.72 0.72 0.704 0.669129 0.8022 0.6796 0.7839 0.5628 0.5838 0.79 0.68 0.79 0.59 0.7349 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 -0.837665 NA NA 0.779324 0.612281 NA 0.645 NA 4.3502426 1225 1 55119546 55119546 A G exonic MROH7 NA nonsynonymous SNV MROH7:NM_001039464:exon3:c.A947G:p.E316G exonic ENSG00000184313,ENSG00000271723 NA nonsynonymous SNV ENSG00000184313:ENST00000438846:exon1:c.A947G:p.E316G,ENSG00000184313:ENST00000413188:exon2:c.A947G:p.E316G,ENSG00000184313:ENST00000422659:exon2:c.A947G:p.E316G,ENSG00000184313:ENST00000339553:exon3:c.A947G:p.E316G,ENSG00000184313:ENST00000395690:exon3:c.A947G:p.E316G,ENSG00000271723:ENST00000414150:exon3:c.A947G:p.E316G,ENSG00000184313:ENST00000421030:exon3:c.A947G:p.E316G,ENSG00000271723:ENST00000425300:exon3:c.A947G:p.E316G,ENSG00000184313:ENST00000440047:exon3:c.A947G:p.E316G,ENSG00000271723:ENST00000606515:exon3:c.A947G:p.E316G NA NA 1p32.3 NA NA NA NA rs1655518 0.97 0.97 0.947 0.953075 0.998 1 0.9914 0.8283 1 1 1 1 0.85 0.9873 1 1 T 0.0 B 0.0 B 0.483 N 1.000 P -0.805 N 3.68 T -0.993 T 0.000 T 0.057 -1.541 0.015 0.747 -0.049 -0.108 0.925 -1.540849 NA 0.59 0.998238 0.881403 NA 0.949 NA 4.3497954 1225 4 16215537 16215537 T G intronic TAPT1 NA NA NA intronic ENSG00000169762 NA NA NA Score=692;Name=lod=865 NA 4p15.32 NA NA NA NA rs12651110 0.19 0.19 0.17 0.171925 0.2167 0.2857 0.1354 0.0333 0.2219 0.22 0.28 0.16 0.04 0.2078 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.769466 2.769466 NA 0.226039 0.057323 NA 0.123 NA 4.349461 1225 20 62320968 62320968 T C exonic RTEL1 NA synonymous SNV RTEL1:NM_016434:exon23:c.T1992C:p.D664D,RTEL1:NM_032957:exon23:c.T2064C:p.D688D exonic ENSG00000026036,ENSG00000258366 NA synonymous SNV ENSG00000026036:ENST00000492259:exon21:c.T2076C:p.D692D,ENSG00000026036:ENST00000482936:exon22:c.T1992C:p.D664D,ENSG00000258366:ENST00000318100:exon23:c.T1992C:p.D664D,ENSG00000258366:ENST00000360203:exon23:c.T1992C:p.D664D,ENSG00000258366:ENST00000370018:exon23:c.T1992C:p.D664D,ENSG00000258366:ENST00000508582:exon23:c.T2064C:p.D688D Score=514;Name=lod=163 NA 20q13.33 NA NA NA NA rs6062302 0.69 0.69 0.687 0.718251 0.7942 0.2986 0.7133 0.9735 0.7311 0.78 0.28 0.78 0.96 0.7486 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 1.131287 NA NA 0.774528 0.931725 NA 0.754 NA 4.3493386 1225 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 1225 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 1225 12 10149406 10149406 T C intronic CLEC1B NA NA NA intronic ENSG00000165682 NA NA NA NA NA 12p13.2 NA NA NA NA rs581949 0.59 0.59 0.567 0.617612 0.5109 0.7292 0.5836 0.5416 0.7393 0.52 0.71 0.59 0.55 0.585 0.71 0.01 D . . . . . . 1.000 P . . . . -0.987 T 0.000 T . 0.042 4.233 1.32 0.054 0.399 3.835 0.042158 NA 0.13 0.555081 0.547348 ID=COSM147431;OCCURENCE=1(stomach) 0.551 NA 4.349019 1225 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 1225 17 38031674 38031674 C T exonic ZPBP2 NA synonymous SNV ZPBP2:NM_198844:exon6:c.C810T:p.C270C,ZPBP2:NM_199321:exon7:c.C876T:p.C292C exonic ENSG00000186075 NA synonymous SNV ENSG00000186075:ENST00000583811:exon4:c.C522T:p.C174C,ENSG00000186075:ENST00000377940:exon6:c.C810T:p.C270C,ENSG00000186075:ENST00000584588:exon6:c.C657T:p.C219C,ENSG00000186075:ENST00000348931:exon7:c.C876T:p.C292C NA NA 17q12 NA NA NA NA rs10852935 0.33 0.33 0.315 0.290136 0.4722 0.2827 0.3415 0.1135 0.3129 0.48 0.31 0.35 0.12 0.3957 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799512 NA NA 0.449884 0.14798 ID=COSM148260;OCCURENCE=1(stomach),1(large_intestine) 0.326 NA 4.3488826 1225 14 105411153 105411153 G A exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.C10635T:p.P3545P exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.C10635T:p.P3545P NA NA 14q32.33 NA NA NA NA rs34499888 0.26 0.26 0.274 0.240615 0.4553 0.0873 0.2968 0.0787 0.3569 0.47 0.07 0.33 0.12 0.3869 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253021 NA NA 0.475871 0.150743 ID=COSM1368611;OCCURENCE=1(large_intestine) 0.29 NA 4.3485956 1225 4 103911069 103911069 C A exonic SLC9B1 NA nonsynonymous SNV SLC9B1:NM_001100874:exon3:c.G99T:p.Q33H,SLC9B1:NM_139173:exon3:c.G99T:p.Q33H exonic ENSG00000164037 NA nonsynonymous SNV ENSG00000164037:ENST00000510243:exon2:c.G99T:p.Q33H,ENSG00000164037:ENST00000514340:exon2:c.G99T:p.Q33H,ENSG00000164037:ENST00000296422:exon3:c.G99T:p.Q33H,ENSG00000164037:ENST00000394789:exon3:c.G99T:p.Q33H,ENSG00000164037:ENST00000503584:exon3:c.G99T:p.Q33H,ENSG00000164037:ENST00000514972:exon3:c.G99T:p.Q33H,ENSG00000164037:ENST00000510559:exon5:c.G99T:p.Q33H NA NA 4q24 NA NA NA NA rs2715591 1 1 0.999 0.998403 0.994 1 0.9971 1 1 0.99 1 1 1 0.9968 1 0.55 T 0.0 B 0.0 B 0.040 N 1.000 P 0 N 2.3 T -0.991 T 0.000 T 0.325 -1.8 0.009 0.020 -0.227 -0.697 6.538 -1.799536 NA 0.27 0.99429 0.999091 NA 0.986 NA 4.3482434 1225 9 37493529 37493529 C T intronic POLR1E NA NA NA intronic ENSG00000137054 NA NA NA NA NA 9p13.2 NA NA Name=2 NA rs10814566 0.21 0.21 0.183 0.215256 0.2018 0.244 0.3112 0.1694 0.1933 0.2 0.22 0.26 0.19 0.2328 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.260929 NA NA 0.217209 0.182705 NA 0.159 NA 4.348191 1225 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 1225 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 1225 15 68649587 68649587 G A exonic ITGA11 NA synonymous SNV ITGA11:NM_001004439:exon7:c.C651T:p.N217N exonic ENSG00000137809 NA synonymous SNV ENSG00000137809:ENST00000315757:exon7:c.C651T:p.N217N,ENSG00000137809:ENST00000423218:exon7:c.C651T:p.N217N Score=527;Name=lod=184 NA 15q23 NA NA NA NA rs12907890 0.86 0.86 0.854 0.877796 0.7475 1 0.8357 0.913 0.8681 0.75 1 0.82 0.91 0.8172 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.209066 NA NA 0.754361 0.866438 NA 0.928 NA 4.3476056 1225 19 1124031 1124031 G A intronic SBNO2 NA NA NA intronic ENSG00000064932 NA NA NA NA Name=Crohn's disease 19p13.3 NA NA NA NA rs2024092 0.23 0.23 0.224 0.239018 0.1988 0.1141 0.3775 0.2935 0.2372 0.2 0.13 0.33 0.32 0.2522 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.830595 NA NA 0.201613 0.29046 ID=COSM438528,COSM438529;OCCURENCE=1(breast) 0.254 NA 4.347387 1225 16 1592087 1592087 T C intronic IFT140,TMEM204 NA NA NA intronic ENSG00000131634,ENSG00000187535 NA NA NA NA NA 16p13.3 NA Name=AP-2alpha NA NA rs2076444 0.3 0.3 0.295 0.33746 0.1909 0.3413 0.17 0.5378 0.3323 0.2 0.31 0.2 0.51 0.2792 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.721828 NA NA 0.182586 0.419461 NA 0.319 NA 4.347314 1225 7 113519796 113519796 C T exonic PPP1R3A NA nonsynonymous SNV PPP1R3A:NM_002711:exon4:c.G1351A:p.V451M exonic ENSG00000154415 NA nonsynonymous SNV ENSG00000154415:ENST00000284601:exon4:c.G1351A:p.V451M,ENSG00000154415:ENST00000449795:exon4:c.G388A:p.V130M NA NA 7q31.1 NA NA NA NA rs2974942 0.98 0.98 0.972 0.970048 0.996 0.999 0.987 0.8971 1 1 1 0.99 0.9 0.9916 1 0.35 T 0.003 B 0.004 B 0.565 N 1.000 P 1.01 L 2.18 T -0.991 T 0.000 T 0.023 0.689 7.679 1.02 -0.012 -0.247 4.340 0.688552 NA 0.35 0.998837 0.915797 NA 0.949 NA 4.3468964 1225 3 44943069 44943069 C T exonic TGM4 NA synonymous SNV TGM4:NM_003241:exon7:c.C711T:p.Y237Y exonic ENSG00000163810 NA synonymous SNV ENSG00000163810:ENST00000296125:exon7:c.C711T:p.Y237Y NA NA 3p21.31 NA NA NA NA rs1995640 0.54 0.54 0.536 0.567292 0.4026 0.8006 0.5086 0.5174 0.6053 0.4 0.83 0.47 0.48 0.4992 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 -0.329595 NA NA 0.418023 0.499319 NA 0.601 NA 4.3468436 1225 7 84644346 84644346 C G intronic SEMA3D NA NA NA intronic ENSG00000153993 NA NA NA NA NA 7q21.11 NA Name=Nrf1,CTCF 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 1225 17 3213962 3213962 A G ncRNA_exonic OR3A4P NA NA NA ncRNA_exonic ENSG00000180068 NA NA NA NA NA 17p13.3 NA NA NA NA rs9906179 0.18 0.18 0.185 0.198482 0.1034 0.0456 0.1571 0.4735 0.1115 0.11 0.02 0.15 0.47 0.1228 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.421391 NA NA 0.09407 0.394008 NA 0.261 NA 4.3463966 1225 11 57971201 57971201 G A exonic OR1S2 NA synonymous SNV OR1S2:NM_001004459:exon1:c.C453T:p.A151A exonic ENSG00000197887 NA synonymous SNV ENSG00000197887:ENST00000302592:exon1:c.C453T:p.A151A NA NA 11q12.1 NA NA NA NA rs11229280 0.49 0.49 0.486 0.514177 0.4245 0.7927 0.4971 0.2806 0.6472 0.42 0.75 0.47 0.3 0.4724 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 -1.533409 NA NA 0.423534 0.301454 ID=COSM147239;OCCURENCE=1(stomach) 0.478 NA 4.3462326 1225 3 148872987 148872987 G A exonic HPS3 NA synonymous SNV HPS3:NM_032383:exon8:c.G1494A:p.Q498Q exonic ENSG00000163755 NA synonymous SNV ENSG00000163755:ENST00000460120:exon7:c.G999A:p.Q333Q,ENSG00000163755:ENST00000296051:exon8:c.G1494A:p.Q498Q NA NA 3q24 NA NA NA NA rs6440589 0.47 0.47 0.491 0.490216 0.4254 0.3631 0.3501 0.7042 0.498 0.42 0.38 0.38 0.7 0.4566 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 -1.861912 NA NA 0.438488 0.661144 NA 0.522 NA 4.3461786 1225 17 7557419 7557419 A G exonic ATP1B2 NA synonymous SNV ATP1B2:NM_001678:exon4:c.A396G:p.G132G exonic ENSG00000129244 NA synonymous SNV ENSG00000129244:ENST00000577026:exon3:c.A150G:p.G50G,ENSG00000129244:ENST00000250111:exon4:c.A396G:p.G132G Score=511;Name=lod=159 NA 17p13.1 NA NA NA NA rs1642763 0.77 0.77 0.785 0.789936 0.7843 0.6687 0.8084 0.9183 0.7342 0.78 0.63 0.8 0.92 0.7709 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 1.298575 1.298575 NA 0.765349 0.869269 NA 0.768 NA 4.3461176 1225 19 54191743 54191743 A G ncRNA_exonic MIR1283-1 NA NA NA ncRNA_exonic ENSG00000221421 NA NA NA NA NA 19q13.42 NA NA NA NA rs57111412 0.23 0.23 0.243 0.291933 0.0855 0.2976 0.17 0.5068 0.2945 0.09 0.29 0.12 0.45 0.1544 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.331296 NA NA 0.080681 0.40051 NA 0.239 NA 4.3460856 1225 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 1225 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 1225 5 163260 163260 A C exonic PLEKHG4B NA nonsynonymous SNV PLEKHG4B:NM_052909:exon11:c.A2005C:p.T669P exonic ENSG00000153404 NA nonsynonymous SNV ENSG00000153404:ENST00000283426:exon11:c.A2005C:p.T669P NA NA 5p15.33 NA NA NA NA rs29674 0.96 0.96 0.967 0.96885 1 0.8482 0.9986 1 0.998 0.99 0.87 1 0.99 0.9882 1 0.29 T 0.0 B 0.0 B . . 1.000 P -0.55 N 1.57 T -1.036 T 0.000 T 0.039 -1.332 0.031 -0.258 -0.151 . 7.346 -1.332428 NA 0.3 0.999883 0.999085 NA 0.957 NA 4.3452504 1225 1 214542819 214542819 T C exonic PTPN14 NA synonymous SNV PTPN14:NM_005401:exon17:c.A3252G:p.E1084E exonic ENSG00000152104 NA synonymous SNV ENSG00000152104:ENST00000366956:exon17:c.A3252G:p.E1084E Score=548;Name=lod=226 NA 1q41 NA NA NA NA rs1135352 0.76 0.76 0.781 0.783946 0.7763 0.6488 0.6744 0.9569 0.7751 0.8 0.6 0.68 0.96 0.7695 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 -0.297993 NA NA 0.775698 0.926237 ID=COSM146762;OCCURENCE=1(stomach) 0.725 NA 4.3451686 1226 11 66329732 66329732 A G exonic ACTN3 NA unknown UNKNOWN exonic ENSG00000248746 NA unknown UNKNOWN Score=500;Name=lod=143 NA 11q13.2 NA NA NA NA rs540874 0.61 0.61 0.602 0.583067 0.5636 0.5565 0.4179 0.8306 0.4131 0.56 0.57 0.46 0.83 0.5418 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 0.283254 NA NA 0.549705 0.785782 NA 0.529 NA 4.344895 1226 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 1226 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 1226 17 35696804 35696804 G A exonic ACACA NA synonymous SNV ACACA:NM_198834:exon2:c.C45T:p.F15F exonic ENSG00000132142 NA synonymous SNV ENSG00000132142:ENST00000353139:exon2:c.C45T:p.F15F,ENSG00000132142:ENST00000456066:exon2:c.C45T:p.F15F Score=506;Name=lod=152 NA 17q12 NA NA NA NA rs58654829 0.62 0.62 0.577 0.585463 0.8101 0.6915 0.5245 0.2625 0.7249 0.81 0.67 0.55 0.34 0.7173 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 0.996822 NA NA 0.795163 0.327063 NA 0.572 NA 4.3441036 1226 7 102668001 102668001 A C exonic FBXL13 NA nonsynonymous SNV FBXL13:NM_001111038:exon5:c.T222G:p.I74M,FBXL13:NM_145032:exon5:c.T222G:p.I74M exonic ENSG00000161040 NA nonsynonymous SNV ENSG00000161040:ENST00000313221:exon5:c.T222G:p.I74M,ENSG00000161040:ENST00000379305:exon5:c.T222G:p.I74M,ENSG00000161040:ENST00000379306:exon5:c.T222G:p.I74M,ENSG00000161040:ENST00000379308:exon5:c.T222G:p.I74M,ENSG00000161040:ENST00000393772:exon5:c.T222G:p.I74M,ENSG00000161040:ENST00000436908:exon5:c.T222G:p.I74M,ENSG00000161040:ENST00000455112:exon5:c.T222G:p.I74M,ENSG00000161040:ENST00000456695:exon5:c.T222G:p.I74M,ENSG00000161040:ENST00000440067:exon6:c.T492G:p.I164M,ENSG00000161040:ENST00000448002:exon6:c.T492G:p.I164M NA NA 7q22.1 NA NA NA NA rs7805950 0.97 0.97 0.967 0.966254 0.999 1 0.9841 0.8812 1 1 1 0.98 0.88 0.9909 1 0.48 T 0.0 B 0.001 B 0.002 N 1.000 P -1.1 N 0.98 T -0.973 T 0.000 T 0.141 -0.162 3.21 -1.63 -0.591 -0.444 1.291 -0.161796 NA 0.2 0.999419 0.913488 NA 0.971 NA 4.3440144 1226 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 1226 4 8228731 8228731 T C exonic SH3TC1 NA nonsynonymous SNV SH3TC1:NM_018986:exon12:c.T1310C:p.L437P exonic ENSG00000125089 NA nonsynonymous SNV ENSG00000125089:ENST00000245105:exon12:c.T1310C:p.L437P,ENSG00000125089:ENST00000539824:exon12:c.T1082C:p.L361P NA NA 4p16.1 NA NA NA NA rs1281145 0.97 0.97 0.957 0.969249 1 1 0.987 0.8903 1 1 1 0.99 0.89 0.9906 1 0.94 T 0.0 B 0.001 B 0.979 N 1.000 P -1.67 N 0.99 T -0.982 T 0.000 T 0.103 -1.593 0.014 1.04 -0.293 -0.339 10.054 -1.593317 NA 0.8 0.999419 0.90808 NA 0.964 NA 4.3433144 1226 1 214564340 214564340 T C exonic PTPN14 NA synonymous SNV PTPN14:NM_005401:exon11:c.A978G:p.R326R exonic ENSG00000152104 NA synonymous SNV ENSG00000152104:ENST00000366956:exon11:c.A978G:p.R326R Score=531;Name=lod=191 NA 1q41 NA NA NA NA rs7550799 0.76 0.76 0.766 0.786342 0.7704 0.6349 0.6772 0.9909 0.7597 0.8 0.58 0.69 0.99 0.7725 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 1.312729 1.312729 NA 0.780814 0.953246 NA 0.732 NA 4.3429526 1226 3 184037533 184037533 A G exonic EIF4G1 NA nonsynonymous SNV EIF4G1:NM_198244:exon4:c.A220G:p.T74A,EIF4G1:NM_182917:exon6:c.A481G:p.T161A,EIF4G1:NM_001194947:exon7:c.A502G:p.T168A,EIF4G1:NM_198241:exon7:c.A481G:p.T161A,EIF4G1:NM_001194946:exon8:c.A502G:p.T168A exonic ENSG00000114867 NA nonsynonymous SNV ENSG00000114867:ENST00000392537:exon4:c.A220G:p.T74A,ENSG00000114867:ENST00000411531:exon4:c.A361G:p.T121A,ENSG00000114867:ENST00000427845:exon4:c.A220G:p.T74A,ENSG00000114867:ENST00000456033:exon5:c.A331G:p.T111A,ENSG00000114867:ENST00000319274:exon6:c.A481G:p.T161A,ENSG00000114867:ENST00000342981:exon6:c.A481G:p.T161A,ENSG00000114867:ENST00000424196:exon6:c.A502G:p.T168A,ENSG00000114867:ENST00000426123:exon6:c.A304G:p.T102A,ENSG00000114867:ENST00000450424:exon6:c.A481G:p.T161A,ENSG00000114867:ENST00000346169:exon7:c.A481G:p.T161A,ENSG00000114867:ENST00000352767:exon7:c.A502G:p.T168A,ENSG00000114867:ENST00000414031:exon7:c.A361G:p.T121A,ENSG00000114867:ENST00000421110:exon7:c.A502G:p.T168A,ENSG00000114867:ENST00000382330:exon8:c.A502G:p.T168A,ENSG00000114867:ENST00000427141:exon8:c.A220G:p.T74A NA NA 3q27.1 NA NA NA NA rs13319149 1 1 1 0.999201 0.996 1 1 1 1 0.99 1 1 1 0.9981 1 1 T 0.0 B 0.0 B 0.027 N 0.967 P -0.69 N 1.41 T -0.983 T 0.000 T 0.288 0.508 6.756 -1.84 -0.543 0.706 5.942 0.508245 NA 0.64 0.996395 0.999092 NA 0.957 NA 4.3428384 1226 11 5536537 5536537 A C exonic UBQLNL NA nonsynonymous SNV UBQLNL:NM_145053:exon1:c.T1135G:p.W379G exonic ENSG00000175518 NA nonsynonymous SNV ENSG00000175518:ENST00000380184:exon1:c.T1135G:p.W379G NA NA 11p15.4 NA NA NA NA rs393044 0.98 0.98 0.976 0.969848 1 1 0.9942 0.8896 0.999 1 1 0.99 0.92 0.9925 1 0.49 T 0.0 B 0.0 B 0.600 N 1.000 P -1.61 N 0.93 T -1.006 T 0.000 T 0.03 -1.671 0.012 -0.375 -0.089 0.086 1.044 -1.671193 NA 0.4 0.998604 0.934121 NA 0.971 NA 4.3422294 1226 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 1226 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 1226 18 29055957 29055957 A G exonic DSG3 NA nonsynonymous SNV DSG3:NM_001944:exon16:c.A2734G:p.T912A exonic ENSG00000134757 NA nonsynonymous SNV ENSG00000134757:ENST00000257189:exon16:c.A2734G:p.T912A NA NA 18q12.1 NA NA NA NA rs1380866 1 1 0.998 0.999201 0.996 1 1 1 1 1 1 1 1 0.9985 1 0.33 T 0.0 B 0.0 B 0.381 N 1.000 P -0.69 N 0.18 T -1.029 T 0.000 T 0.021 0.701 7.74 1.12 -0.236 -0.201 5.732 0.70102 NA 0.21 0.997326 0.999773 NA 1 NA 4.3415074 1226 19 44500478 44500478 A T exonic ZNF155 NA nonsynonymous SNV ZNF155:NM_001260486:exon5:c.A469T:p.I157F,ZNF155:NM_001260487:exon5:c.A469T:p.I157F,ZNF155:NM_003445:exon5:c.A469T:p.I157F,ZNF155:NM_198089:exon5:c.A469T:p.I157F,ZNF155:NM_001260488:exon6:c.A502T:p.I168F exonic ENSG00000204920 NA nonsynonymous SNV ENSG00000204920:ENST00000270014:exon5:c.A469T:p.I157F,ENSG00000204920:ENST00000590615:exon5:c.A469T:p.I157F,ENSG00000204920:ENST00000407951:exon6:c.A502T:p.I168F NA NA 19q13.31 NA NA NA NA rs398235 0.98 0.98 0.981 0.977636 1 1 0.9899 0.9206 1 1 1 0.99 0.92 0.9929 1 1 T 0.0 B 0.0 B . . 1.000 P -3.215 N 5.32 T -1.027 T 0.000 T 0.162 -1.229 0.059 1.65 -0.100 -0.019 3.925 -1.229492 NA 1 0.999186 0.934862 NA 0.971 NA 4.3412474 1226 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 1226 11 617967 617967 C G exonic CDHR5 NA nonsynonymous SNV CDHR5:NM_031264:exon13:c.G1523C:p.C508S,CDHR5:NM_001171968:exon14:c.G2087C:p.C696S,CDHR5:NM_021924:exon14:c.G2105C:p.C702S exonic ENSG00000099834 NA nonsynonymous SNV ENSG00000099834:ENST00000349570:exon13:c.G1523C:p.C508S,ENSG00000099834:ENST00000397542:exon14:c.G2105C:p.C702S,ENSG00000099834:ENST00000358353:exon15:c.G2105C:p.C702S NA NA 11p15.5 NA NA NA NA rs2740379 0.98 0.98 0.972 0.980831 0.999 1 0.9914 0.9327 1 1 1 0.99 0.92 0.9939 1 0.91 T 0.0 B 0.0 B . . 1.000 P -1.78 N 1.45 T -1.011 T 0.000 T 0.134 -1.517 0.016 1.07 0.155 0.165 4.873 -1.516732 NA 0.88 0.999767 0.936364 NA 0.942 NA 4.3406664 1226 4 159894250 159894250 C T exonic C4orf45 NA nonsynonymous SNV C4orf45:NM_152543:exon2:c.G278A:p.G93E exonic ENSG00000164123 NA nonsynonymous SNV ENSG00000164123:ENST00000434826:exon2:c.G278A:p.G93E NA NA 4q32.1 NA NA NA NA rs619128 0.99 0.99 0.985 0.978634 1 1 0.9885 0.9251 1 1 1 0.99 0.94 0.9934 1 . . 0.0 B 0.0 B 0.804 N 1.000 P -1.61 N 2.67 T -1.031 T 0.000 T 0.026 -2.882 0.001 0.268 -0.429 -0.215 4.688 -2.882006 NA 1 0.999388 0.933609 NA 0.993 NA 4.3405454 1226 14 21458131 21458131 G A UTR5 METTL17 NM_022734:c.-31G>A,NM_001029991:c.-31G>A NA NA UTR5 ENSG00000165792 ENST00000339374:c.-31G>A NA NA NA NA 14q11.2 Score=875;Name=V$ELK1_02 Name=ELK4,TBP,AP-2gamma,TR4,YY1,c-Fos,NF-YB,GTF2F1_(RAP-74),TCF4,YY1_(C-20),c-Myc,Oct-2,SP1,IRF1,THAP1_(SC-98174),Sin3Ak-20,SIX5,IRF3,TAF1,NFKB,Pol2-4H8,MEF2A,GABP,HEY1,NF-YA,ELF1_(SC-631),ETS1,Pol2,Pol2(phosphoS2),USF-1,USF1_(SC-8983),CHD2_(N-1250),POU2F2 Name=148 NA rs2741733 0.98 0.98 0.982 0.980232 0.999 1 1 0.9259 1 1 1 1 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 0.443989 NA NA 0.999767 0.94394 NA 0.978 NA 4.3403664 1226 1 85648620 85648620 C T exonic SYDE2 NA nonsynonymous SNV SYDE2:NM_032184:exon3:c.G1705A:p.V569I exonic ENSG00000097096 NA nonsynonymous SNV ENSG00000097096:ENST00000341460:exon3:c.G1705A:p.V569I NA NA 1p22.3 NA NA NA NA rs817443 0.98 0.98 0.977 0.979433 0.999 1 0.9942 0.9259 1 1 1 1 0.92 0.9953 1 1 T 0.0 B 0.0 B 0.919 N 1.000 P -1.61 N 3.34 T -0.913 T 0.001 T 0.017 -1.68 0.012 -1.28 -0.179 0.005 7.034 -1.680335 NA 1 0.999634 0.949919 NA 0.993 NA 4.3393994 1226 12 9307373 9307373 T G exonic PZP NA nonsynonymous SNV PZP:NM_002864:exon29:c.A3613C:p.T1205P exonic ENSG00000126838 NA nonsynonymous SNV ENSG00000126838:ENST00000381997:exon24:c.A2971C:p.T991P,ENSG00000126838:ENST00000261336:exon29:c.A3613C:p.T1205P NA NA 12p13.31 NA NA NA NA rs2377741 0.99 0.99 0.985 0.983427 1 1 0.9957 0.9395 1 1 1 1 0.96 0.9943 1 1 T 0.0 B 0.0 B 0.577 N 1.000 P -2.865 N 1.28 T -0.905 T 0.000 T 0.038 -1.803 0.009 0.627 0.065 0.176 1.617 -1.803272 NA 1 0.999767 0.934635 NA 0.978 NA 4.3392664 1226 19 16860105 16860105 G A exonic NWD1 NA nonsynonymous SNV NWD1:NM_001007525:exon6:c.G652A:p.A218T exonic ENSG00000188039 NA nonsynonymous SNV ENSG00000188039:ENST00000339803:exon2:c.G247A:p.A83T,ENSG00000188039:ENST00000379808:exon4:c.G652A:p.A218T,ENSG00000188039:ENST00000552788:exon4:c.G652A:p.A218T,ENSG00000188039:ENST00000523826:exon5:c.G34A:p.A12T,ENSG00000188039:ENST00000549814:exon5:c.G652A:p.A218T,ENSG00000188039:ENST00000524140:exon6:c.G652A:p.A218T NA NA 19p13.11 NA NA NA NA rs706764 0.98 0.98 0.982 0.984425 1 0.9256 0.9986 0.9992 0.999 1 0.93 1 1 0.9942 1 1 T 0.0 B 0.0 B 0.969 N 1.000 P -0.805 N 1.98 T -0.983 T 0.000 T 0.024 -2.543 0.003 0.857 -0.134 0.697 7.379 -2.543284 NA 1 1 0.998411 NA 0.986 NA 4.3391334 1226 15 25429458 25429458 A G ncRNA_exonic SNORD115-8 NA NA NA ncRNA_exonic ENSG00000200726 NA NA NA NA NA 15q11.2 NA NA NA NA rs2011153 0.26 0.26 0.265 0.296326 0.0964 0.2698 0.111 0.6793 0.1431 0.1 0.27 0.1 0.59 0.1453 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085133 NA NA 0.086181 0.583904 NA 0.29 NA 4.3387856 1226 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 1226 4 155256205 155256205 G A exonic DCHS2 NA nonsynonymous SNV DCHS2:NM_001142552:exon4:c.C2528T:p.S843L,DCHS2:NM_017639:exon8:c.C1031T:p.S344L exonic ENSG00000197410 NA nonsynonymous SNV ENSG00000197410:ENST00000339452:exon4:c.C2528T:p.S843L,ENSG00000197410:ENST00000357232:exon8:c.C1031T:p.S344L NA NA 4q31.3 NA NA NA NA rs6858712 0.99 0.99 0.985 0.986022 1 1 1 0.947 1 1 1 1 0.96 0.9954 1 0.68 T 0.017 B 0.005 B 0.075 N 1.000 P 0.245 N 0.62 T -0.983 T 0.000 T 0.056 -0.465 1.849 -0.301 -0.036 0.688 2.441 -0.465394 NA 0.38 0.999419 0.948479 NA 0.993 NA 4.3385144 1226 12 8374770 8374770 G A exonic FAM90A1 NA nonsynonymous SNV FAM90A1:NM_018088:exon7:c.C1043T:p.T348I exonic ENSG00000171847 NA nonsynonymous SNV ENSG00000171847:ENST00000307435:exon6:c.C1043T:p.T348I,ENSG00000171847:ENST00000538603:exon7:c.C1043T:p.T348I NA NA 12p13.31 NA NA NA NA rs9668474 0.98 0.98 0.979 0.986821 0.999 1 0.9971 0.9523 1 1 1 0.99 0.93 0.9964 1 0.37 T 0.0 B 0.0 B . . 1.000 P 0 N 2.78 T -1.061 T 0.000 T 0.038 -0.25 2.795 1.02 -0.093 -0.679 3.144 -0.25043 NA 0.84 0.999767 0.963232 NA 0.674 NA 4.3381664 1226 14 105421050 105421050 T G exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.A738C:p.P246P exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.A738C:p.P246P NA NA 14q32.33 NA NA NA NA rs879209 0.3 0.3 0.309 0.309704 0.4632 0.0754 0.2954 0.3192 0.3906 0.47 0.06 0.31 0.31 0.405 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.233217 NA NA 0.46037 0.326433 NA 0.413 NA 4.3380966 1226 9 79318471 79318471 C T exonic PRUNE2 NA synonymous SNV PRUNE2:NM_015225:exon9:c.G8058A:p.L2686L exonic ENSG00000106772 NA synonymous SNV ENSG00000106772:ENST00000376718:exon9:c.G8058A:p.L2686L,ENSG00000106772:ENST00000428286:exon9:c.G6981A:p.L2327L NA NA 9q21.2 NA NA NA NA rs560094 0.81 0.81 0.808 0.784345 0.7714 0.9127 0.8228 0.6914 0.7638 0.76 0.95 0.81 0.74 0.7948 0.95 . . . . . . . . 1.000 P . . . . -1.041 T 0.000 T . 0.437 6.371 -0.391 -0.090 -0.007 1.037 0.436558 NA NA 0.762563 0.707908 NA 0.761 NA 4.3379036 1226 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 1226 7 50611735 50611735 T C exonic DDC NA nonsynonymous SNV DDC:NM_000790:exon2:c.A49G:p.M17V,DDC:NM_001082971:exon2:c.A49G:p.M17V,DDC:NM_001242886:exon2:c.A49G:p.M17V,DDC:NM_001242887:exon2:c.A49G:p.M17V,DDC:NM_001242888:exon2:c.A49G:p.M17V,DDC:NM_001242889:exon2:c.A49G:p.M17V,DDC:NM_001242890:exon2:c.A49G:p.M17V exonic ENSG00000132437 NA nonsynonymous SNV ENSG00000132437:ENST00000431062:exon1:c.A49G:p.M17V,ENSG00000132437:ENST00000357936:exon2:c.A49G:p.M17V,ENSG00000132437:ENST00000380984:exon2:c.A49G:p.M17V,ENSG00000132437:ENST00000420203:exon2:c.A49G:p.M17V,ENSG00000132437:ENST00000426377:exon2:c.A49G:p.M17V,ENSG00000132437:ENST00000444124:exon2:c.A49G:p.M17V,ENSG00000132437:ENST00000444733:exon2:c.A49G:p.M17V NA NA 7p12.1 NA NA NA NA rs6264 0.99 0.99 0.992 0.993211 0.998 1 1 0.9758 1 1 1 1 0.97 0.9982 1 0.53 T 0.0 B 0.0 B 0.006 N 0.999 P -1.725 N 1.32 T -0.977 T 0.000 T 0.432 0.941 8.837 0.418 -0.190 -0.603 10.978 0.941291 NA 0.25 1 0.980254 NA 0.993 NA 4.3371334 1226 17 75190846 75190846 A C exonic SEC14L1 NA nonsynonymous SNV SEC14L1:NM_001144001:exon5:c.A460C:p.T154P,SEC14L1:NM_001039573:exon7:c.A562C:p.T188P,SEC14L1:NM_001143998:exon7:c.A562C:p.T188P,SEC14L1:NM_001143999:exon7:c.A562C:p.T188P,SEC14L1:NM_003003:exon7:c.A562C:p.T188P,SEC14L1:NM_001204410:exon8:c.A562C:p.T188P,SEC14L1:NM_001204408:exon9:c.A562C:p.T188P exonic ENSG00000129657 NA nonsynonymous SNV ENSG00000129657:ENST00000589202:exon2:c.A217C:p.T73P,ENSG00000129657:ENST00000431431:exon5:c.A460C:p.T154P,ENSG00000129657:ENST00000591437:exon5:c.A460C:p.T154P,ENSG00000129657:ENST00000413679:exon7:c.A562C:p.T188P,ENSG00000129657:ENST00000436233:exon7:c.A562C:p.T188P,ENSG00000129657:ENST00000443798:exon7:c.A562C:p.T188P,ENSG00000129657:ENST00000585618:exon7:c.A562C:p.T188P,ENSG00000129657:ENST00000430767:exon8:c.A562C:p.T188P,ENSG00000129657:ENST00000589827:exon8:c.A562C:p.T188P,ENSG00000129657:ENST00000392476:exon9:c.A562C:p.T188P NA NA 17q25.2 NA NA NA NA rs673918 0.99 0.99 0.986 0.988019 1 1 0.9986 0.9554 1 1 1 1 0.96 0.9964 1 0.71 T 0.0 B 0.003 B 0.048 N 1.000 P -1.59 N -0.41 T -0.977 T 0.000 T 0.093 0.107 4.577 1.8 0.617 0.839 2.229 0.107249 NA 0.41 1 0.959374 NA 0.986 NA 4.3369334 1226 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 1226 19 40225646 40225646 G A exonic CLC NA nonsynonymous SNV CLC:NM_001828:exon2:c.C83T:p.A28V exonic ENSG00000105205 NA nonsynonymous SNV ENSG00000105205:ENST00000221804:exon2:c.C83T:p.A28V NA NA 19q13.2 NA NA NA NA rs17608 0.59 0.59 0.632 0.613618 0.6988 0.3373 0.5187 0.7617 0.6779 0.68 0.35 0.53 0.78 0.6311 0.78 0.7 T 0.0 B 0.0 B . . 1.000 P -0.295 N 2.28 T -1.033 T 0.000 T 0.006 -1.19 0.078 0.725 -0.271 -0.110 . -1.189921 NA 1 0.66686 0.771221 ID=COSM148621;OCCURENCE=1(stomach) 0.616 NA 4.3365734 1226 2 29416572 29416572 T C exonic ALK NA nonsynonymous SNV ALK:NM_004304:exon29:c.A4381G:p.I1461V exonic ENSG00000171094 NA nonsynonymous SNV ENSG00000171094:ENST00000431873:exon4:c.A871G:p.I291V,ENSG00000171094:ENST00000389048:exon29:c.A4381G:p.I1461V NA NA 2p23.2 NA NA NA NA rs1670283 0.99 0.99 0.99 0.992212 1 1 1 0.9713 0.999 1 1 1 0.97 0.9972 1 . . 0.0 B 0.0 B 0.683 N 1.000 P 0 N 3.01 T -0.987 T 0.000 T 0.012 -0.742 0.84 -0.134 -0.248 -0.728 8.386 -0.74221 NA 1 0.999651 0.972084 NA 0.986 NA 4.3364824 1226 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 1226 4 10446385 10446385 C T exonic ZNF518B NA nonsynonymous SNV ZNF518B:NM_053042:exon3:c.G1568A:p.S523N exonic ENSG00000178163 NA nonsynonymous SNV ENSG00000178163:ENST00000326756:exon3:c.G1568A:p.S523N NA NA 4p16.1 NA NA NA NA rs9291410 0.99 0.99 0.991 0.991014 1 1 0.9986 0.9667 1 1 1 1 0.97 0.9974 1 1 T 0.0 B 0.0 B 0.260 N 1.000 P -0.345 N 4.84 T -0.994 T 0.000 T 0.007 -0.983 0.287 1.61 -0.072 0.301 1.124 -0.98257 NA 0.86 1 0.971176 NA 0.978 NA 4.3359334 1226 3 140401693 140401693 A G exonic TRIM42 NA nonsynonymous SNV TRIM42:NM_152616:exon2:c.A731G:p.K244R exonic ENSG00000155890 NA nonsynonymous SNV ENSG00000155890:ENST00000286349:exon2:c.A731G:p.K244R NA NA 3q23 NA NA NA NA rs698673 1 1 1 0.999201 0.999 1 0.9971 0.9992 1 1 1 1 1 0.9993 1 0.94 T 0.0 B 0.0 B 0.377 N 1.000 P -0.14 N 1.16 T -0.964 T 0.000 T 0.059 -2.421 0.003 1.87 0.205 0.299 7.858 -2.420979 NA 1 0.999186 0.999319 NA 1 NA 4.3358474 1226 14 68053977 68053977 A C UTR3 PLEKHH1 NM_020715:c.*25A>C NA NA exonic ENSG00000054690 NA nonsynonymous SNV ENSG00000054690:ENST00000417684:exon12:c.A944C:p.N315T NA NA 14q24.1 NA NA NA NA rs6573783 0.99 0.99 0.981 0.988219 1 1 0.9971 0.9569 1 1 1 1 0.94 0.9975 1 1 T 0.0 B 0.0 B . . 1.000 P . . . . -0.956 T 0.000 T 0.037 -1.104 0.14 2.47 0.382 -0.053 3.936 -1.103697 NA 1 1 0.976427 NA 0.993 NA 4.3358334 1226 5 66480004 66480004 T C exonic CD180 NA nonsynonymous SNV CD180:NM_005582:exon3:c.A667G:p.I223V exonic ENSG00000134061 NA nonsynonymous SNV ENSG00000134061:ENST00000256447:exon3:c.A667G:p.I223V NA NA 5q12.3 NA NA NA NA rs1697144 0.99 0.99 0.986 0.995008 1 0.9752 1 1 1 1 0.97 1 1 0.9979 1 0.59 T 0.0 B 0.0 B 0.599 N 1.000 P 0.39 N 1.38 T -1.003 T 0.000 T 0.005 -2.067 0.006 -0.748 -0.553 -0.784 1.026 -2.067482 NA 1 0.999884 1 NA 1 NA 4.3355494 1226 7 113519719 113519719 A T exonic PPP1R3A NA nonsynonymous SNV PPP1R3A:NM_002711:exon4:c.T1428A:p.N476K exonic ENSG00000154415 NA nonsynonymous SNV ENSG00000154415:ENST00000284601:exon4:c.T1428A:p.N476K,ENSG00000154415:ENST00000449795:exon4:c.T465A:p.N155K NA NA 7q31.1 NA NA NA NA rs2974944 1 1 0.996 0.996406 0.999 1 1 0.9871 1 1 1 1 0.99 0.999 1 1 T 0.0 B 0.0 B 0.190 N 1.000 P -0.895 N 2.6 T -0.981 T 0.000 T 0.004 -2.095 0.006 1.78 -0.061 0.456 1.659 -2.095428 NA 1 1 0.988425 NA 1 NA 4.3353334 1226 17 8464890 8464890 T C intronic MYH10 NA NA NA ncRNA_exonic ENSG00000244604 NA NA NA Score=705;Name=lod=979 NA 17p13.1 NA NA NA NA rs1845589 0.96 0.96 0.97 0.96865 0.998 1 0.9914 0.8888 0.998 0.99 0.99 0.98 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 -0.19116 NA NA NA NA NA 0.964 NA 4.3353333 1226 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 1227 21 47409580 47409580 C A intronic COL6A1 NA NA NA intronic ENSG00000142156 NA NA NA NA NA 21q22.3 NA NA NA NA rs34495634 0.12 0.12 0.093 0.0940495 0.2435 0.004 0.1556 0.0287 0.0777 0.25 0.01 0.17 0.05 0.1825 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325725 NA NA 0.23907 0.061734 NA 0.101 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079836.1;CLNDSDB=.;CLNDSDBID=. 4.33493 1227 18 30804756 30804756 C T exonic CCDC178 NA nonsynonymous SNV CCDC178:NM_001105528:exon16:c.G1801A:p.D601N,CCDC178:NM_198995:exon17:c.G1801A:p.D601N exonic ENSG00000166960 NA nonsynonymous SNV ENSG00000166960:ENST00000581524:exon4:c.G442A:p.D148N,ENSG00000166960:ENST00000402325:exon15:c.G1801A:p.D601N,ENSG00000166960:ENST00000406524:exon15:c.G1801A:p.D601N,ENSG00000166960:ENST00000403303:exon16:c.G1801A:p.D601N,ENSG00000166960:ENST00000583930:exon16:c.G1801A:p.D601N,ENSG00000166960:ENST00000300227:exon17:c.G1801A:p.D601N,ENSG00000166960:ENST00000383096:exon17:c.G1801A:p.D601N,ENSG00000166960:ENST00000579947:exon17:c.G1801A:p.D601N NA NA 18q12.1 NA NA NA NA rs466113 1 1 0.997 0.995407 1 1 1 0.9826 1 1 1 1 0.98 0.9987 1 0.53 T 0.001 B 0.0 B . . 1.000 P 0 N 2.52 T -1.032 T 0.000 T 0.033 0.415 6.253 1.85 0.146 0.101 1.575 0.414735 NA 0.26 1 0.985922 NA 0.848 NA 4.3346334 1227 16 4664833 4664833 T G UTR5 UBALD1 NM_145253:c.-35A>C NA NA UTR5 ENSG00000153443 ENST00000283474:c.-35A>C,ENST00000591401:c.-35A>C,ENST00000590965:c.-35A>C,ENST00000588691:c.-35A>C,ENST00000587615:c.-35A>C,ENST00000587649:c.-35A>C NA NA Score=361;Name=lod=39 NA 16p13.3 NA Name=Sin3Ak-20,FOSL1_(SC-183),eGFP-JunD,SIX5,Mxi1_(bHLH),FOXA2_(SC-6554),YY1_(C-20),Oct-2,c-Myc,SP1,IRF1,JunD,Pol2(b),TBP,CCNT2,YY1,BRCA1_(C-1863),c-Fos,TAF7_(SQ-8),E2F6,POU2F2,FOXA1_(C-20),FOSL2,Pol2,Pol2(phosphoS2),FOXA1_(SC-101058),HA-E2F1,CHD2_(N-1250),STAT1,ELF1_(SC-631),HEY1,ATF3,TAF1,HMGN3,Pol2-4H8,eGFP-JunB Name=147 NA rs860889 0.99 0.99 1 0.996006 1 1 0.9986 0.9856 1 1 1 0.99 0.98 0.9991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.5836 1.5836 NA 0.999882 0.991391 NA 0.304 NA 4.3343514 1227 1 234529552 234529552 C T exonic TARBP1 NA synonymous SNV TARBP1:NM_005646:exon27:c.G4275A:p.A1425A exonic ENSG00000059588 NA synonymous SNV ENSG00000059588:ENST00000040877:exon27:c.G4275A:p.A1425A NA NA 1q42.2 NA NA NA NA rs2175594 0.51 0.51 0.509 0.509984 0.4384 0.495 0.5692 0.6225 0.4049 0.45 0.48 0.57 0.6 0.4594 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.050354 NA NA 0.434535 0.588743 NA 0.551 NA 4.3343316 1227 9 33927899 33927899 G A exonic UBAP2 NA nonsynonymous SNV UBAP2:NM_018449:exon20:c.C2267T:p.A756V exonic ENSG00000137073 NA nonsynonymous SNV ENSG00000137073:ENST00000488443:exon4:c.C334T:p.P112S,ENSG00000137073:ENST00000539807:exon14:c.C1532T:p.A511V,ENSG00000137073:ENST00000379239:exon16:c.C1466T:p.A489V,ENSG00000137073:ENST00000418786:exon17:c.C2041T:p.P681S,ENSG00000137073:ENST00000360802:exon20:c.C2267T:p.A756V,ENSG00000137073:ENST00000379238:exon20:c.C2267T:p.A756V,ENSG00000137073:ENST00000449054:exon20:c.C2267T:p.A756V NA NA 9p13.3 NA NA NA NA rs307692 1 1 0.997 0.996605 1 1 0.9986 0.9879 1 1 1 1 0.99 0.9992 1 1 T 0.0 B 0.001 B 0.904 N 0.917 P -0.95 N 2.05 T -1.039 T 0.000 T 0.08 -1.377 0.025 -1.44 -0.884 0.281 8.380 -1.376784 NA 1 0.999884 0.991829 NA 0.993 NA 4.3342494 1227 17 37898543 37898543 T C exonic GRB7 NA nonsynonymous SNV GRB7:NM_001242442:exon2:c.T58C:p.C20R exonic ENSG00000141738 NA nonsynonymous SNV ENSG00000141738:ENST00000445327:exon2:c.T58C:p.C20R NA NA 17q12 NA NA NA NA rs2952142 1 1 0.999 0.998602 1 1 1 0.9947 1 1 1 1 0.99 0.9994 1 0.26 T . . . . . . 1.000 P . . 1.66 T -1.011 T 0.000 T 0.014 0.294 5.595 1.11 -0.120 -0.384 6.448 0.294471 NA 0.06 0.999884 0.993872 NA 0.993 NA 4.3340494 1227 13 103527930 103527930 G C exonic BIVM-ERCC5,ERCC5 NA nonsynonymous SNV ERCC5:NM_000123:exon15:c.G3238C:p.G1080R,BIVM-ERCC5:NM_001204425:exon23:c.G4600C:p.G1534R exonic ENSG00000134899 NA nonsynonymous SNV ENSG00000134899:ENST00000375954:exon6:c.G937C:p.G313R,ENSG00000134899:ENST00000355739:exon15:c.G3238C:p.G1080R NA NA 13q33.1 NA NA NA NA rs9514067 1 1 0.999 0.997204 1 1 1 0.9932 0.9949 1 1 1 1 0.9993 1 0.54 T 0.0 B 0.0 B 0.020 N 1.000 P 0.41 N 3.65 T -1.004 T 0.000 T 0.056 -0.016 3.931 0.141 0.061 -0.373 7.996 -0.016166 NA 0.51 1 0.99251 NA 0.986 NA 4.3340334 1227 15 67768151 67768151 G C exonic IQCH NA nonsynonymous SNV IQCH:NM_001031715:exon18:c.G2794C:p.V932L exonic ENSG00000103599 NA nonsynonymous SNV ENSG00000103599:ENST00000360277:exon10:c.G1777C:p.V593L,ENSG00000103599:ENST00000358767:exon17:c.G2002C:p.V668L,ENSG00000103599:ENST00000546225:exon17:c.G1765C:p.V589L,ENSG00000103599:ENST00000335894:exon18:c.G2794C:p.V932L NA NA 15q23 NA NA NA NA rs3985641 1 1 0.998 0.997804 1 1 1 0.9917 1 1 1 1 0.99 0.9994 1 0.76 T 0.0 B 0.002 B 0.153 N 1.000 P 0 N 2.45 T -0.971 T 0.000 T 0.084 -0.565 1.452 -0.479 -0.255 0.196 10.060 -0.56485 NA 0.69 1 0.992503 NA 1 NA 4.3339334 1227 1 21050958 21050958 C T exonic SH2D5 NA synonymous SNV SH2D5:NM_001103160:exon5:c.G309A:p.Q103Q,SH2D5:NM_001103161:exon6:c.G561A:p.Q187Q exonic ENSG00000189410 NA synonymous SNV ENSG00000189410:ENST00000375031:exon5:c.G309A:p.Q103Q,ENSG00000189410:ENST00000444387:exon6:c.G561A:p.Q187Q Score=515;Name=lod=165 NA 1p36.12 NA NA NA NA rs592060 0.87 0.87 0.886 0.879593 0.7714 0.9802 0.7622 0.9849 0.8282 0.76 0.98 0.76 0.98 0.8054 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 -0.429207 NA NA 0.756042 0.957025 NA 0.862 NA 4.3338246 1227 19 49812403 49812403 G T intronic SLC6A16 NA NA NA intronic ENSG00000063127 NA NA NA NA NA 19q13.33 NA Name=CTCF NA NA rs2278405 0.26 0.26 0.242 0.305112 0.1958 0.3383 0.2248 0.3396 0.3937 0.2 0.32 0.22 0.3 0.2575 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.063782 NA NA 0.212895 0.304567 NA 0.29 NA 4.333805 1227 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 1227 2 188250301 188250301 T A exonic CALCRL NA nonsynonymous SNV CALCRL:NM_001271751:exon3:c.A22T:p.N8Y,CALCRL:NM_005795:exon4:c.A22T:p.N8Y exonic ENSG00000064989 NA nonsynonymous SNV ENSG00000064989:ENST00000410068:exon3:c.A22T:p.N8Y,ENSG00000064989:ENST00000392370:exon4:c.A22T:p.N8Y,ENSG00000064989:ENST00000410102:exon4:c.A22T:p.N8Y,ENSG00000064989:ENST00000447403:exon4:c.A22T:p.N8Y,ENSG00000064989:ENST00000409998:exon5:c.A22T:p.N8Y NA NA 2q32.1 NA NA NA NA rs698577 1 1 1 0.999401 1 1 1 0.9977 1 1 1 1 1 0.9996 1 1 T 0.0 B 0.0 B 0.792 N 1.000 P -0.345 N 1.56 T -0.945 T 0.000 T 0.281 -2.49 0.003 -1.99 -0.413 0.016 0.708 -2.490427 NA 1 1 0.995676 NA 1 NA 4.3337334 1227 14 100847523 100847523 T C exonic WDR25 NA nonsynonymous SNV WDR25:NM_001161476:exon2:c.T262C:p.W88R,WDR25:NM_024515:exon2:c.T262C:p.W88R exonic ENSG00000176473 NA nonsynonymous SNV ENSG00000176473:ENST00000557710:exon1:c.T262C:p.W88R,ENSG00000176473:ENST00000335290:exon2:c.T262C:p.W88R,ENSG00000176473:ENST00000402312:exon2:c.T262C:p.W88R,ENSG00000176473:ENST00000554175:exon2:c.T262C:p.W88R,ENSG00000176473:ENST00000554998:exon2:c.T262C:p.W88R NA NA 14q32.2 NA NA NA NA rs2181170 1 1 1 0.998602 1 1 1 0.9947 1 1 1 1 1 0.9996 1 0.79 T 0.0 B 0.0 B 0.493 N 1.000 P -0.14 N 1.95 T -0.994 T 0.000 T 0.046 -0.603 1.308 0.938 0.029 -0.210 4.216 -0.603116 NA 0.87 1 0.995007 NA 0.993 NA 4.3337334 1227 2 21235475 21235475 T C exonic APOB NA nonsynonymous SNV APOB:NM_000384:exon26:c.A4265G:p.Y1422C exonic ENSG00000084674 NA nonsynonymous SNV ENSG00000084674:ENST00000233242:exon26:c.A4265G:p.Y1422C NA NA 2p24.1 NA NA NA NA rs568413 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9999 1 0.46 T 0.0 B 0.0 B 0.121 N 1.000 P -1.06 N 5.8 T -1.008 T 0.000 T 0.06 -1.921 0.008 1.93 0.125 0.573 4.809 -1.921177 NA 0.65 0.999767 0.999545 NA 1 NA 4.3336664 1227 4 186380295 186380295 A G exonic CCDC110 NA synonymous SNV CCDC110:NM_001145411:exon5:c.T1335C:p.N445N,CCDC110:NM_152775:exon6:c.T1446C:p.N482N exonic ENSG00000168491 NA synonymous SNV ENSG00000168491:ENST00000393540:exon5:c.T1335C:p.N445N,ENSG00000168491:ENST00000307588:exon6:c.T1446C:p.N482N,ENSG00000168491:ENST00000510617:exon6:c.T1446C:p.N482N NA NA 4q35.1 NA NA NA NA rs36007437 0.32 0.32 0.324 0.294928 0.4374 0.2808 0.3213 0.1536 0.3354 0.43 0.28 0.36 0.16 0.4003 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.074096 NA NA 0.495327 0.209714 NA 0.297 NA 4.3336396 1227 4 4276132 4276132 T C exonic LYAR NA nonsynonymous SNV LYAR:NM_001145725:exon7:c.A794G:p.H265R,LYAR:NM_017816:exon7:c.A794G:p.H265R exonic ENSG00000145220 NA nonsynonymous SNV ENSG00000145220:ENST00000343470:exon7:c.A794G:p.H265R,ENSG00000145220:ENST00000452476:exon7:c.A794G:p.H265R NA NA 4p16.3 NA NA NA NA rs7376390 1 1 1 0.999601 1 1 1 0.9985 1 1 1 1 1 0.9998 1 0.5 T 0.0 B 0.0 B 0.026 N 1.000 P 0 N 1.57 T -0.988 T 0.000 T 0.038 0.987 9.029 1.24 0.051 0.566 5.923 0.98689 NA 0.27 1 0.998411 NA 1 NA 4.3335334 1227 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 1227 1 55277599 55277599 T C exonic C1orf177 NA nonsynonymous SNV C1orf177:NM_001110533:exon5:c.T613C:p.Y205H,C1orf177:NM_152607:exon5:c.T613C:p.Y205H exonic ENSG00000162398 NA nonsynonymous SNV ENSG00000162398:ENST00000358193:exon5:c.T613C:p.Y205H,ENSG00000162398:ENST00000371273:exon5:c.T613C:p.Y205H NA NA 1p32.3 NA NA NA NA rs600499 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.58 T 0.0 B 0.0 B 0.729 N 1.000 P -1.87 N 2.15 T -1.023 T 0.000 T 0.067 -0.015 3.937 1.29 0.221 0.145 3.067 -0.014907 NA 0.56 1 0.999773 NA 1 NA 4.3333334 1227 1 151028234 151028234 G T UTR5 CDC42SE1 NM_001038707:c.-28C>A,NM_020239:c.-28C>A NA NA UTR5 ENSG00000197622 ENST00000439374:c.-28C>A,ENST00000357235:c.-28C>A,ENST00000540998:c.-28C>A NA NA NA NA 1q21.3 Score=760;Name=V$PAX6_01 Name=Pol2 NA NA rs11204767 1 1 1 1 1 1 1 1 1 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 3.813315 3.813315 NA NA NA NA 1 NA 4.3333334 1227 5 140750044 140750044 T C exonic PCDHGB3 NA nonsynonymous SNV PCDHGB3:NM_018924:exon1:c.T83C:p.V28A,PCDHGB3:NM_032097:exon1:c.T83C:p.V28A exonic ENSG00000262209 NA nonsynonymous SNV ENSG00000262209:ENST00000576222:exon1:c.T83C:p.V28A NA NA 5q31.3 NA NA NA NA rs6860609 1 1 1 1 1 1 1 1 1 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 -3.157859 NA NA NA NA NA 1 NA 4.3333334 1227 15 82335444 82335444 G A UTR3 MEX3B NM_032246:c.*57C>T NA NA UTR3 ENSG00000183496 ENST00000329713:c.*57C>T,ENST00000558133:c.*2126C>T NA NA NA NA 15q25.2 NA Name=CTCF NA NA rs11073028 0.96 0.96 1 1 1 1 1 1 1 0.95 0.97 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 -1.953427 NA NA NA NA NA 0.993 NA 4.3333334 1227 11 56458133 56458133 C G intronic OR8U8 NA NA NA ncRNA_exonic ENSG00000238041 NA NA NA Score=549;Name=lod=227 NA 11q12.1 NA NA NA NA rs7952622 1 1 0.998 0.998403 1 1 1 0.9939 1 1 1 1 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 -1.15675 NA NA NA NA NA 1 NA 4.3333333 1227 X 106375295 106375295 A G intronic NUP62CL NA NA NA ncRNA_exonic ENSG00000213569 NA NA NA NA NA Xq22.3 NA NA NA NA rs61743095 0.02 0.02 0.02623 NA NA NA NA NA NA 0.06 NA 0.0036 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 -0.550102 NA NA NA NA NA 0.014 NA 4.3333333 1227 8 20077935 20077935 G A UTR3 ATP6V1B2 NM_001693:c.*22G>A NA NA UTR3 ENSG00000147416 ENST00000276390:c.*22G>A NA NA NA NA 8p21.3 NA NA NA NA rs372860051 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001702 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 -1.213027 NA NA 0.000116 0 NA NA NA 4.3332004 1227 14 105420927 105420927 A G exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.T861C:p.P287P exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.T861C:p.P287P NA NA 14q32.33 NA NA NA NA rs879210 0.3 0.3 0.32 0.314696 0.4652 0.0754 0.2968 0.3359 0.3906 0.47 0.06 0.32 0.33 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 0.475923 NA NA 0.46047 0.354455 ID=COSM432744;OCCURENCE=1(breast) 0.413 NA 4.3326966 1227 9 79325615 79325615 A G exonic PRUNE2 NA synonymous SNV PRUNE2:NM_015225:exon8:c.T1575C:p.S525S exonic ENSG00000106772 NA synonymous SNV ENSG00000106772:ENST00000376718:exon8:c.T1575C:p.S525S,ENSG00000106772:ENST00000428286:exon8:c.T498C:p.S166S Score=576;Name=lod=291 NA 9q21.2 NA NA NA NA rs611461 0.81 0.81 0.815 0.785343 0.7734 0.9157 0.8213 0.6921 0.7638 0.76 0.95 0.81 0.74 0.7967 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 -0.898977 NA NA 0.764098 0.71301 NA 0.761 NA 4.3324686 1227 15 42703899 42703899 G T intronic CAPN3 NA NA NA ncRNA_intronic ENSG00000258461 NA NA NA NA NA 15q15.1 NA NA NA NA rs28364547 0.01 0.01 NA NA NA NA NA NA NA 0.02 NA 0.01 0.002 0.0009 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 -1.168608 NA NA NA NA NA NA NA 4.3324333 1227 6 13977340 13977340 C T UTR5 RNF182 NM_001165034:c.-11C>T,NM_001165032:c.-11C>T,NM_152737:c.-11C>T,NM_001165033:c.-11C>T NA NA UTR5 ENSG00000180537 ENST00000537663:c.-11C>T,ENST00000488763:c.-11C>T,ENST00000544682:c.-11C>T,ENST00000488300:c.-11C>T,ENST00000420478:c.-11C>T,ENST00000471906:c.-11C>T,ENST00000537388:c.-11C>T,ENST00000423553:c.-11C>T NA NA NA NA 6p23 NA NA NA NA rs138581484 0.0005 0.0005 0.001 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.00001743 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 0.011912 NA NA 0 0.000227 NA NA NA 4.332316 1227 9 112172477 112172477 T G intronic PTPN3 NA NA NA intronic ENSG00000070159 NA NA NA NA NA 9q31.3 NA Name=CTCF,Rad21,TBP Name=13 NA rs2275699 0.86 0.86 0.874 NA NA NA NA NA NA 0.8 0.84 0.88 0.97 0.8512 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 0.568622 NA NA 0.816744 0.949841 NA 0.906 NA 4.332056 1227 18 9195519 9195519 A G intronic ANKRD12 NA NA NA ncRNA_intronic ENSG00000265257 NA NA NA NA NA 18p11.22 NA NA NA NA rs370015410 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0005 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 1.625999 1.625999 NA 0.001164 0.000227 NA NA NA 4.3316693 1227 22 45731182 45731182 C T intronic FAM118A NA NA NA intronic ENSG00000100376 NA NA NA NA NA 22q13.31 NA Name=CTCF_(SC-5916),CTCF,Rad21,NRSF 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 1227 14 23512347 23512347 C T UTR3 PSMB11 NM_001099780:c.*10C>T NA NA UTR3 ENSG00000222028 ENST00000408907:c.*10C>T NA NA NA NA 14q11.2 NA NA NA NA rs200420485 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001 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 4.653746 4.653746 NA 0.002021 0.000241 NA NA NA 4.3303124 1227 16 84115483 84115483 G A exonic MBTPS1 NA synonymous SNV MBTPS1:NM_003791:exon11:c.C1317T:p.P439P exonic ENSG00000140943 NA synonymous SNV ENSG00000140943:ENST00000343411:exon11:c.C1317T:p.P439P NA NA 16q23.3 NA NA NA NA rs3743631 0.54 0.54 0.534 0.529153 0.4384 0.6974 0.5159 0.5696 0.4039 0.45 0.7 0.51 0.54 0.4785 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 1.426741 1.426741 NA 0.419651 0.525 ID=COSM435863;OCCURENCE=1(breast) 0.493 NA 4.3301156 1227 2 31571786 31571786 A G exonic XDH NA synonymous SNV XDH:NM_000379:exon27:c.T3030C:p.F1010F exonic ENSG00000158125 NA synonymous SNV ENSG00000158125:ENST00000379416:exon27:c.T3030C:p.F1010F Score=505;Name=lod=151 NA 2p23.1 NA NA NA NA rs1884725 0.8 0.8 0.807 0.79992 0.7903 0.8482 0.7565 0.7655 0.8374 0.81 0.88 0.76 0.74 0.7863 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 1.125162 NA NA 0.76 0.79823 NA 0.848 NA 4.3300666 1227 14 20586432 20586432 C T exonic OR4K17 NA synonymous SNV OR4K17:NM_001004715:exon1:c.C867T:p.Y289Y exonic ENSG00000176230 NA synonymous SNV ENSG00000176230:ENST00000315543:exon1:c.C867T:p.Y289Y NA NA 14q11.2 NA NA NA NA rs9323534 0.46 0.46 0.463 0.473043 0.4433 0.5823 0.4424 0.3873 0.5286 0.44 0.58 0.45 0.35 0.454 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.979111 NA NA 0.439302 0.415116 NA 0.399 NA 4.3300646 1227 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 1227 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 1227 17 10352159 10352159 G A intronic MYH4 NA NA NA ncRNA_intronic ENSG00000214970 NA NA NA NA NA 17p13.1 NA NA NA NA rs191969056 0.0005 0.0005 NA 0.000599042 NA NA 0.0043 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 -1.056607 NA NA 0.002209 0.000227 NA NA NA 4.3298243 1227 1 157557701 157557701 G A exonic FCRL4 NA synonymous SNV FCRL4:NM_031282:exon4:c.C516T:p.D172D exonic ENSG00000163518 NA synonymous SNV ENSG00000163518:ENST00000271532:exon4:c.C516T:p.D172D NA NA 1q23.1 NA NA NA NA rs2777962 0.5 0.5 0.514 0.498403 0.4284 0.6806 0.5375 0.3623 0.5389 0.43 0.7 0.48 0.4 0.4813 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 -0.358985 NA NA 0.427907 0.377213 NA 0.457 NA 4.3290596 1227 9 136304497 136304497 A G exonic ADAMTS13 NA synonymous SNV ADAMTS13:NM_139025:exon15:c.A1716G:p.T572T,ADAMTS13:NM_139026:exon15:c.A1623G:p.T541T,ADAMTS13:NM_139027:exon15:c.A1716G:p.T572T exonic ENSG00000160323 NA synonymous SNV ENSG00000160323:ENST00000536611:exon9:c.A732G:p.T244T,ENSG00000160323:ENST00000355699:exon15:c.A1716G:p.T572T,ENSG00000160323:ENST00000356589:exon15:c.A1623G:p.T541T,ENSG00000160323:ENST00000371929:exon15:c.A1716G:p.T572T NA NA 9q34.2 NA NA NA NA rs3124768 0.53 0.53 0.533 0.515974 0.4215 0.8115 0.4769 0.3699 0.5337 0.42 0.81 0.49 0.39 0.4718 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 -1.007479 NA NA 0.444884 0.357921 NA 0.428 NA 4.3284826 1227 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 1227 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 1227 19 4400314 4400314 C T intronic SH3GL1 NA NA NA intronic ENSG00000141985 NA NA NA NA NA 19p13.3 NA Name=Pol2-4H8,ETS1,Pol2,HA-E2F1 NA NA rs62129356 0.15 0.15 0.132 0.138179 0.2416 0.0645 0.3084 0.0129 0.1564 0.23 0.06 0.27 0.03 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 0.514744 NA NA 0.226673 0.048233 NA 0.21 NA 4.327927 1227 10 105218359 105218359 T C exonic CALHM1 NA synonymous SNV CALHM1:NM_001001412:exon1:c.A150G:p.A50A exonic ENSG00000185933 NA synonymous SNV ENSG00000185933:ENST00000329905:exon1:c.A150G:p.A50A Score=454;Name=lod=93 NA 10q24.33 NA NA NA NA rs2986018 0.86 0.86 0.872 0.884784 0.7714 0.8849 0.8444 0.9796 0.9018 0.76 0.91 0.83 0.97 0.8109 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 -0.469955 NA NA 0.756977 0.938039 NA 0.87 NA 4.3273896 1227 19 55995272 55995272 G A exonic ZNF628 NA synonymous SNV ZNF628:NM_033113:exon3:c.G2712A:p.P904P exonic ENSG00000197483 NA synonymous SNV ENSG00000197483:ENST00000391718:exon3:c.G2700A:p.P900P,ENSG00000197483:ENST00000598519:exon3:c.G2712A:p.P904P NA NA 19q13.42 NA NA NA NA rs11550705 0.23 0.23 0.259 0.235823 0.4404 0.0149 0.2781 0.0825 0.4305 0.43 0.02 0.3 0.13 0.4368 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.032931 NA NA 0.462614 0.123805 NA 0.341 NA 4.3268526 1227 21 43291765 43291765 G A intronic PRDM15 NA NA NA ncRNA_intronic ENSG00000236545 NA NA NA NA NA 21q22.3 NA NA NA NA rs138273025 0.0023 0.0023 0.001 0.00139776 0.003 NA 0.0029 NA 0.002 0.004 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 -0.832438 NA NA 0.002326 0.000681 NA NA NA 4.3268073 1227 17 9471711 9471711 T G exonic STX8 NA synonymous SNV STX8:NM_004853:exon2:c.A94C:p.R32R exonic ENSG00000170310 NA synonymous SNV ENSG00000170310:ENST00000306357:exon2:c.A94C:p.R32R,ENSG00000170310:ENST00000573373:exon2:c.A94C:p.R32R,ENSG00000170310:ENST00000575294:exon2:c.A94C:p.R32R,ENSG00000170310:ENST00000575858:exon2:c.A94C:p.R32R,ENSG00000170310:ENST00000573016:exon3:c.A94C:p.R32R Score=549;Name=lod=228 NA 17p13.1 NA NA NA NA rs1133295 0.74 0.74 0.707 0.680112 0.8002 0.9891 0.8372 0.2806 0.6667 0.8 1 0.82 0.3 0.7574 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.450781 1.450781 NA 0.782674 0.358829 NA 0.688 NA 4.3263926 1227 17 3214128 3214128 A G ncRNA_exonic OR3A4P NA NA NA ncRNA_exonic ENSG00000180068 NA NA NA NA NA 17p13.3 NA NA NA NA rs9912090 0.16 0.16 0.167 0.180711 0.1123 0.0456 0.1571 0.3956 0.1166 0.12 0.02 0.15 0.38 0.1237 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.788313 NA NA 0.104535 0.319337 NA 0.239 NA 4.3261316 1227 18 28723593 28723593 G A intronic DSC1 NA NA NA ncRNA_intronic ENSG00000265888 NA NA NA NA NA 18q12.1 NA NA NA NA rs140043236 0.0023 0.0023 0.002 0.00119808 0.005 NA 0.0014 NA NA 0.01 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 2.24794 2.24794 NA 0.001396 0.000454 NA 0.007 NA 4.3257373 1227 11 82641364 82641364 G C intronic C11orf82 NA NA NA intronic ENSG00000137509,ENSG00000165490 NA NA NA NA NA 11q14.1 NA NA Name=6 NA rs10431162 0.23 0.23 0.223 0.257388 0.2227 0.1161 0.2767 0.3646 0.2802 0.23 0.1 0.29 0.35 0.2278 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.743846 NA NA 0.224278 0.340599 NA 0.203 NA 4.325222 1227 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 1228 12 1313732 1313732 T C intronic ERC1 NA NA NA intronic ENSG00000082805 NA NA NA NA NA 12p13.33 NA NA Name=22 NA rs7977526 0.37 0.37 0.392 0.386581 0.335 0.1637 0.2867 0.7179 0.2924 0.34 0.15 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 1.175987 NA NA 0.340038 0.633671 NA 0.5 NA 4.324962 1228 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 1228 10 100184062 100184062 C A intronic HPS1 NA NA NA intronic ENSG00000107521 NA NA NA NA NA 10q24.2 NA Name=HNF4A_(H-171) NA NA rs2296433 0.2 0.2 0.194 0.255791 0.2078 0.3641 0.2709 0.0953 0.3998 0.16 0.34 0.22 0.08 0.2641 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601376 NA NA 0.203837 0.106446 NA NA NA 4.324263 1228 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 1228 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 1228 2 241404213 241404213 T C intronic GPC1 NA NA NA intronic ENSG00000063660 NA NA NA NA NA 2q37.3 NA Name=Pol2 NA NA rs41266965 0.14 0.14 0.147 0.145966 0.2127 0.0149 0.1369 0.1755 0.1789 0.21 0.01 0.15 0.17 0.2349 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.606667 NA NA 0.228558 0.17181 NA 0.058 NA 4.323842 1228 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 1228 17 3213862 3213862 C G ncRNA_exonic OR3A4P NA NA NA ncRNA_exonic ENSG00000180068 NA NA NA NA NA 17p13.3 NA NA NA NA rs9905086 0.18 0.18 0.198 0.201478 0.1113 0.0456 0.1585 0.4743 0.1166 0.12 0.02 0.15 0.48 0.1297 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.532251 NA NA 0.102674 0.401044 NA 0.268 NA 4.3229926 1228 19 33498978 33498978 A G exonic RHPN2 NA synonymous SNV RHPN2:NM_033103:exon7:c.T702C:p.C234C exonic ENSG00000131941 NA synonymous SNV ENSG00000131941:ENST00000400226:exon6:c.T249C:p.C83C,ENSG00000131941:ENST00000254260:exon7:c.T702C:p.C234C NA NA 19q13.11 NA NA NA NA rs2163807 0.39 0.39 0.358 0.419329 0.4652 0.2272 0.3228 0.4955 0.5358 0.48 0.22 0.37 0.46 0.4314 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736967 NA NA 0.447326 0.477748 NA 0.493 NA 4.3227406 1228 15 99715352 99715352 A G exonic TTC23 NA synonymous SNV TTC23:NM_001040656:exon7:c.T768C:p.L256L,TTC23:NM_001040659:exon7:c.T768C:p.L256L,TTC23:NM_001040657:exon8:c.T768C:p.L256L,TTC23:NM_001040658:exon8:c.T768C:p.L256L,TTC23:NM_001040660:exon8:c.T768C:p.L256L,TTC23:NM_001040655:exon9:c.T768C:p.L256L,TTC23:NM_022905:exon9:c.T768C:p.L256L exonic ENSG00000103852 NA synonymous SNV ENSG00000103852:ENST00000558613:exon7:c.T768C:p.L256L,ENSG00000103852:ENST00000262074:exon8:c.T768C:p.L256L,ENSG00000103852:ENST00000394135:exon8:c.T768C:p.L256L,ENSG00000103852:ENST00000558663:exon8:c.T768C:p.L256L,ENSG00000103852:ENST00000394130:exon9:c.T768C:p.L256L,ENSG00000103852:ENST00000394136:exon9:c.T768C:p.L256L,ENSG00000103852:ENST00000459771:exon9:c.T768C:p.L256L,ENSG00000103852:ENST00000394129:exon10:c.T768C:p.L256L,ENSG00000103852:ENST00000394132:exon10:c.T768C:p.L256L NA NA 15q26.3 NA NA Name=13 NA rs2602016 0.85 0.85 0.86 0.855831 0.7913 0.9415 0.7795 0.9569 0.7515 0.78 0.91 0.77 0.94 0.7947 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 0.945021 NA NA 0.758087 0.928311 NA 0.732 NA 4.3225796 1228 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 1228 15 80191488 80191488 C T intronic ST20,ST20-MTHFS NA NA NA intronic ENSG00000180953,ENSG00000259332 NA NA NA NA NA 15q25.1 NA Name=p300_(N-15),STAT3 NA NA rs12440609 0.21 0.21 0.158 0.213259 0.2276 0.2986 0.2277 0.031 0.3466 0.24 0.28 0.25 0.04 0.2375 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.732321 1.732321 NA 0.212421 0.050251 NA 0.232 NA 4.322479 1228 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 1228 16 88052161 88052161 C A exonic BANP NA synonymous SNV BANP:NM_001173540:exon6:c.C684A:p.L228L,BANP:NM_001173541:exon6:c.C666A:p.L222L,BANP:NM_017869:exon6:c.C666A:p.L222L,BANP:NM_079837:exon6:c.C666A:p.L222L,BANP:NM_001173539:exon7:c.C783A:p.L261L,BANP:NM_001173542:exon7:c.C783A:p.L261L,BANP:NM_001173543:exon7:c.C759A:p.L253L exonic ENSG00000172530 NA synonymous SNV ENSG00000172530:ENST00000355022:exon6:c.C666A:p.L222L,ENSG00000172530:ENST00000355163:exon6:c.C684A:p.L228L,ENSG00000172530:ENST00000393208:exon6:c.C666A:p.L222L,ENSG00000172530:ENST00000479780:exon6:c.C666A:p.L222L,ENSG00000172530:ENST00000286122:exon7:c.C759A:p.L253L,ENSG00000172530:ENST00000393207:exon7:c.C759A:p.L253L,ENSG00000172530:ENST00000538234:exon7:c.C783A:p.L261L NA NA 16q24.2 Score=808;Name=V$YY1_02 NA NA NA rs7499814 0.58 0.58 0.572 0.580471 0.8072 0.5159 0.5821 0.3328 0.7474 0.8 0.48 0.59 0.35 0.7242 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 1.306125 1.306125 NA 0.813023 0.39959 NA 0.529 NA 4.3222436 1228 9 21026540 21026540 G T intronic PTPLAD2 NA NA NA intronic ENSG00000188921 NA NA NA NA NA 9p21.3 Score=852;Name=V$RSRFC4_01 NA NA NA rs2275889 0.54 0.54 0.5 0.563698 0.6779 0.503 0.5576 0.4274 0.6973 0.67 0.47 0.56 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 0.163058 NA NA NA NA ID=COSN168486;OCCURENCE=1(large_intestine) 0.449 NA 4.3221 1228 15 68628143 68628143 C T exonic ITGA11 NA synonymous SNV ITGA11:NM_001004439:exon12:c.G1317A:p.R439R exonic ENSG00000137809 NA synonymous SNV ENSG00000137809:ENST00000315757:exon12:c.G1317A:p.R439R,ENSG00000137809:ENST00000423218:exon12:c.G1317A:p.R439R Score=480;Name=lod=119 NA 15q23 NA NA NA NA rs2306023 0.67 0.67 0.624 0.645966 0.7913 0.7956 0.817 0.2322 0.7802 0.79 0.83 0.8 0.22 0.7642 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 1.606305 1.606305 NA 0.78938 0.344137 NA 0.594 NA 4.3217866 1228 17 3213728 3213728 A G ncRNA_exonic OR3A4P NA NA NA ncRNA_exonic ENSG00000180068 NA NA NA NA NA 17p13.3 NA NA NA NA rs9905684 0.18 0.18 0.203 0.201877 0.1123 0.0456 0.1585 0.4743 0.1176 0.12 0.02 0.15 0.48 0.1298 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.356821 NA NA 0.102791 0.401044 NA 0.268 NA 4.3217756 1228 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 1228 3 112648125 112648125 G T exonic CD200R1 NA synonymous SNV CD200R1:NM_138940:exon3:c.C363A:p.T121T,CD200R1:NM_170780:exon3:c.C363A:p.T121T,CD200R1:NM_138806:exon4:c.C432A:p.T144T,CD200R1:NM_138939:exon4:c.C432A:p.T144T exonic ENSG00000163606 NA synonymous SNV ENSG00000163606:ENST00000295863:exon2:c.C297A:p.T99T,ENSG00000163606:ENST00000471858:exon3:c.C363A:p.T121T,ENSG00000163606:ENST00000490004:exon3:c.C363A:p.T121T,ENSG00000163606:ENST00000308611:exon4:c.C432A:p.T144T,ENSG00000163606:ENST00000440122:exon4:c.C432A:p.T144T NA NA 3q13.2 NA NA NA NA rs6438117 0.62 0.62 0.096 0.651358 0.5328 0.7024 0.6066 0.7216 0.6575 0.53 0.68 0.6 0.68 0.5698 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23375 NA NA 0.242791 0.416478 NA NA NA 4.3212756 1228 15 64222558 64222558 C T intronic DAPK2 NA NA NA ncRNA_intronic ENSG00000259351 NA NA NA NA NA 15q22.31 NA NA NA NA rs143777468 0.0032 0.0032 0.003 0.00259585 0.006 0.001 0.0043 NA 0.0031 0.01 0.0017 0.0028 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 0.124868 NA NA 0.00314 0.000908 NA NA NA 4.3208933 1228 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 1228 9 34372873 34372873 C G exonic KIAA1161 NA unknown UNKNOWN UTR5 ENSG00000164976 ENST00000297625:c.-34G>C NA NA NA NA 9p13.3 NA Name=FOXA1_(C-20) Name=13 NA rs4879782 0.79 0.79 0.766 0.796126 0.7674 0.9593 0.8012 0.6142 0.8998 0.78 0.95 0.81 0.6 0.7939 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 0.221422 NA NA 0.784801 0.674296 NA 0.783 NA 4.3205657 1228 10 123298158 123298158 T C exonic FGFR2 NA synonymous SNV FGFR2:NM_001144916:exon3:c.A351G:p.V117V,FGFR2:NM_001144918:exon4:c.A351G:p.V117V,FGFR2:NM_023029:exon4:c.A429G:p.V143V,FGFR2:NM_001144913:exon5:c.A696G:p.V232V,FGFR2:NM_001144914:exon5:c.A696G:p.V232V,FGFR2:NM_001144915:exon5:c.A429G:p.V143V,FGFR2:NM_001144919:exon5:c.A429G:p.V143V,FGFR2:NM_000141:exon6:c.A696G:p.V232V,FGFR2:NM_001144917:exon6:c.A696G:p.V232V,FGFR2:NM_022970:exon6:c.A696G:p.V232V exonic ENSG00000066468 NA synonymous SNV ENSG00000066468:ENST00000356226:exon4:c.A351G:p.V117V,ENSG00000066468:ENST00000369059:exon4:c.A351G:p.V117V,ENSG00000066468:ENST00000604236:exon4:c.A351G:p.V117V,ENSG00000066468:ENST00000336553:exon5:c.A429G:p.V143V,ENSG00000066468:ENST00000346997:exon5:c.A696G:p.V232V,ENSG00000066468:ENST00000357555:exon5:c.A429G:p.V143V,ENSG00000066468:ENST00000360144:exon5:c.A429G:p.V143V,ENSG00000066468:ENST00000369056:exon5:c.A696G:p.V232V,ENSG00000066468:ENST00000369061:exon5:c.A696G:p.V232V,ENSG00000066468:ENST00000351936:exon6:c.A696G:p.V232V,ENSG00000066468:ENST00000358487:exon6:c.A696G:p.V232V,ENSG00000066468:ENST00000359354:exon6:c.A696G:p.V232V,ENSG00000066468:ENST00000369058:exon6:c.A696G:p.V232V,ENSG00000066468:ENST00000369060:exon6:c.A696G:p.V232V,ENSG00000066468:ENST00000457416:exon6:c.A696G:p.V232V Score=409;Name=lod=61 NA 10q26.13 NA NA NA NA rs1047100 0.82 0.82 0.817 0.795327 0.7903 0.9355 0.7997 0.7322 0.7382 0.78 0.92 0.81 0.79 0.7797 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 1.463104 1.463104 NA 0.776395 0.747844 NA 0.891 NA 4.3202716 1228 1 146759306 146759306 T C intronic CHD1L NA NA NA intronic ENSG00000131778 NA NA NA NA NA 1q21.1 NA NA Name=10 NA rs6703892 0.14 0.14 0.12 0.147564 0.2306 0.1121 0.1931 0.0083 0.2546 0.22 0.1 0.19 0.01 0.2161 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.128506 2.128506 NA 0.23314 0.047662 NA 0.13 NA 4.32016 1228 5 73931246 73931246 T C exonic ENC1 NA synonymous SNV ENC1:NM_001256576:exon2:c.A846G:p.S282S,ENC1:NM_003633:exon2:c.A1065G:p.S355S,ENC1:NM_001256574:exon3:c.A1065G:p.S355S,ENC1:NM_001256575:exon3:c.A1065G:p.S355S exonic ENSG00000171617 NA synonymous SNV ENSG00000171617:ENST00000302351:exon2:c.A1065G:p.S355S,ENSG00000171617:ENST00000510316:exon2:c.A846G:p.S282S,ENSG00000171617:ENST00000537006:exon3:c.A1065G:p.S355S NA NA 5q13.3 NA NA NA Score=80;Name=1887879.5_0_+_80 rs442425 0.79 0.79 0.784 0.754792 0.8131 0.623 0.8184 0.8578 0.6462 0.82 0.65 0.83 0.86 0.7583 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 0.260421 NA NA 0.775581 0.835679 NA 0.761 NA 4.3196856 1228 7 22896231 22896231 G C upstream SNORD93 NA NA NA ncRNA_intronic ENSG00000228649 NA NA NA Score=459;Name=lod=98 NA 7p15.3 NA NA Name=4 NA rs1608553 0.73 0.73 0.728 0.759784 0.6083 0.7758 0.7435 0.8638 0.7699 0.6 0.8 0.7 0.86 0.6682 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 0.757986 NA NA 0.570568 0.825913 NA 0.645 NA 4.3195986 1228 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 1228 8 12878830 12878830 C T exonic KIAA1456 NA synonymous SNV KIAA1456:NM_001099677:exon2:c.C264T:p.S88S,KIAA1456:NM_020844:exon5:c.C642T:p.S214S exonic ENSG00000250305 NA synonymous SNV ENSG00000250305:ENST00000524591:exon5:c.C642T:p.S214S NA NA 8p22 NA NA NA NA rs3739309 0.31 0.31 0.28 0.295327 0.4811 0.127 0.2738 0.1876 0.4387 0.49 0.14 0.32 0.22 0.4043 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203595 NA NA 0.462248 0.207758 NA 0.254 NA 4.3190186 1228 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 1228 21 45540919 45540919 A G exonic PWP2 NA synonymous SNV PWP2:NM_005049:exon13:c.A1572G:p.T524T exonic ENSG00000241945 NA synonymous SNV ENSG00000241945:ENST00000291576:exon13:c.A1572G:p.T524T NA NA 21q22.3 Score=920;Name=V$EVI1_02 NA NA NA rs2071143 0.65 0.65 0.599 0.581669 0.8211 0.6994 0.6772 0.2769 0.5583 0.81 0.7 0.7 0.3 0.7191 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 0.194363 NA NA 0.807907 0.349069 NA 0.645 NA 4.3185596 1228 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 1228 10 128816943 128816943 T C intronic DOCK1 NA NA NA ncRNA_intronic ENSG00000223528,ENSG00000232935 NA NA NA NA NA 10q26.2 NA NA NA NA rs11018137 0.0037 0.0037 NA 0.00219649 0.0089 NA 0.0014 0.0008 NA 0.01 NA 0.0028 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 -0.289977 NA NA 0.003659 0 NA NA NA 4.3183743 1228 10 71142420 71142420 G A exonic HK1 NA synonymous SNV HK1:NM_000188:exon10:c.G1443A:p.K481K,HK1:NM_033496:exon10:c.G1440A:p.K480K,HK1:NM_033497:exon13:c.G1455A:p.K485K,HK1:NM_033498:exon13:c.G1455A:p.K485K,HK1:NM_033500:exon14:c.G1407A:p.K469K exonic ENSG00000156515 NA synonymous SNV ENSG00000156515:ENST00000298649:exon10:c.G1440A:p.K480K,ENSG00000156515:ENST00000359426:exon10:c.G1443A:p.K481K,ENSG00000156515:ENST00000404387:exon11:c.G1455A:p.K485K,ENSG00000156515:ENST00000360289:exon14:c.G1407A:p.K469K,ENSG00000156515:ENST00000448642:exon15:c.G1548A:p.K516K Score=552;Name=lod=234 NA 10q22.1 NA NA NA NA rs748235 0.75 0.75 0.742 0.778754 0.7763 0.6409 0.6254 0.8896 0.8824 0.77 0.64 0.67 0.9 0.7832 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 0.966091 NA NA 0.789651 0.879483 NA 0.754 NA 4.3175156 1228 22 45685002 45685002 A G exonic UPK3A NA synonymous SNV UPK3A:NM_006953:exon4:c.A549G:p.S183S exonic ENSG00000100373 NA synonymous SNV ENSG00000100373:ENST00000216211:exon4:c.A549G:p.S183S NA NA 22q13.31 NA NA NA NA rs1135360 0.62 0.62 0.613 0.664337 0.4324 0.6954 0.5749 0.9032 0.6115 0.42 0.66 0.57 0.9 0.504 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 0.384793 NA NA 0.412907 0.830685 NA 0.587 NA 4.3173596 1228 11 8284860 8284860 G T intronic LMO1 NA NA NA intronic ENSG00000166407 NA NA NA NA NA 11p15.4 NA Name=CTCF NA NA rs204930 0.24 0.24 0.199 0.20028 0.2376 0.2351 0.255 0.1339 0.1769 0.25 0.25 0.25 0.18 0.2217 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285782 NA NA 0.223859 0.132437 NA 0.159 NA 4.316841 1228 11 35223158 35223158 T C intronic CD44 NA NA NA intronic ENSG00000026508 NA NA NA NA NA 11p13 NA Name=Pol2-4H8 NA NA rs11033025 0.81 0.81 0.837 0.829872 0.6839 0.9315 0.6816 0.9221 0.8558 0.71 0.93 0.68 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 0.382892 NA NA NA NA NA 0.681 NA 4.3161 1228 14 50802840 50802840 A G intronic CDKL1 NA NA NA intronic ENSG00000100490 NA NA NA NA NA 14q21.3 NA Name=GATA-1,GATA-2,p300 Name=86 NA rs7148292 0.55 0.55 0.545 0.553115 0.5547 0.619 0.572 0.5053 0.5348 0.56 0.61 0.55 0.47 0.5685 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.020092 NA NA 0.560773 0.488584 NA 0.435 NA 4.316027 1228 2 128699750 128699750 G C intronic SAP130 NA NA NA intronic ENSG00000136715 NA NA NA NA NA 2q14.3 NA Name=CEBPB NA NA rs2304519 0.16 0.16 0.162 0.190096 0.2087 0.122 0.1859 0.0643 0.4141 0.21 0.13 0.2 0.08 0.2337 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.684025 NA NA 0.241977 0.095098 NA 0.167 NA 4.315623 1228 2 185801755 185801755 A G exonic ZNF804A NA synonymous SNV ZNF804A:NM_194250:exon4:c.A1632G:p.T544T exonic ENSG00000170396 NA synonymous SNV ENSG00000170396:ENST00000302277:exon4:c.A1632G:p.T544T NA NA 2q32.1 NA NA Name=6 NA rs4667002 0.83 0.83 0.824 0.786741 0.7783 0.8839 0.8242 0.7587 0.7065 0.8 0.91 0.86 0.78 0.7949 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 -1.855256 NA NA 0.778128 0.776006 NA 0.71 NA 4.3153386 1228 12 22354921 22354921 A G exonic ST8SIA1 NA synonymous SNV ST8SIA1:NM_003034:exon5:c.T636C:p.I212I exonic ENSG00000111728 NA synonymous SNV ENSG00000111728:ENST00000539510:exon4:c.T207C:p.I69I,ENSG00000111728:ENST00000396037:exon5:c.T636C:p.I212I,ENSG00000111728:ENST00000540824:exon5:c.T489C:p.I163I Score=619;Name=lod=437 NA 12p12.1 NA NA NA NA rs704219 0.78 0.78 0.776 0.810104 0.7654 0.8462 0.8689 0.6876 0.9427 0.77 0.84 0.84 0.71 0.8067 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 1.120243 NA NA 0.779419 0.72719 NA 0.754 NA 4.3151476 1229 16 772600 772600 A C UTR3 CCDC78 NM_001031737:c.*170T>G NA NA UTR3 ENSG00000103254,ENSG00000162004 ENST00000569529:c.*43A>C;ENST00000293889:c.*170T>G,ENST00000345165:c.*78T>G NA NA NA NA 16p13.3 NA NA NA NA rs180696429 0.01 0.01 NA 0.0167732 0.004 0.0089 0.0072 0.0129 0.0501 0.004 0.01 0.01 0.02 0.0121 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 0.116295 NA NA 0.002363 0.007836 NA 0.007 NA 4.3148704 1229 14 50802727 50802727 A C intronic CDKL1 NA NA NA intronic ENSG00000100490 NA NA NA NA NA 14q21.3 NA Name=GATA-1 Name=86 NA rs7148089 0.55 0.55 0.541 0.554313 0.5567 0.619 0.5735 0.5068 0.5358 0.56 0.61 0.55 0.47 0.567 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.667787 NA NA 0.561527 0.482306 NA 0.406 NA 4.314773 1229 17 73839214 73839214 G C intronic UNC13D NA NA NA intronic ENSG00000092929 NA NA NA NA NA 17q25.1 NA NA Name=3 NA rs3744008 0.18 0.18 0.176 0.177117 0.2515 0.0913 0.1513 0.211 0.1616 0.24 0.09 0.18 0.18 0.2002 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364913 NA NA 0.233535 0.220708 NA 0.13 NA 4.314765 1229 8 144643169 144643169 C T intronic GSDMD NA NA NA intronic ENSG00000104518 NA NA NA Score=300;Name=lod=22 NA 8q24.3 NA NA NA NA rs1545536 0.27 0.27 0.234 0.275958 0.2058 0.4583 0.2507 0.1354 0.3681 0.21 0.48 0.21 0.17 0.2584 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.148437 NA NA 0.221047 0.159473 NA 0.196 NA 4.314753 1229 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 1229 9 90401638 90401638 C G ncRNA_intronic CTSL3P NA NA NA ncRNA_intronic ENSG00000188029 NA NA NA NA NA 9q22.1 NA NA Name=9 NA rs7039358 0.47 0.47 0.483 0.44349 0.4404 0.5823 0.4323 0.3828 0.3937 0.47 0.57 0.41 0.39 0.4709 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.641969 NA NA 0.441047 0.435996 NA 0.5 NA 4.3143196 1229 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 1229 8 38835666 38835666 T C exonic HTRA4 NA synonymous SNV HTRA4:NM_153692:exon4:c.T966C:p.N322N exonic ENSG00000169495 NA synonymous SNV ENSG00000169495:ENST00000302495:exon4:c.T966C:p.N322N Score=595;Name=lod=348 NA 8p11.22 NA NA NA NA rs4733961 0.82 0.82 0.794 0.781949 0.8012 0.9494 0.8559 0.6778 0.6779 0.8 0.94 0.85 0.68 0.787 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 0.035667 NA NA 0.764535 0.693146 NA 0.826 NA 4.3139316 1229 10 129207564 129207564 C T intronic DOCK1 NA NA NA intronic ENSG00000150760 NA NA NA NA NA 10q26.2 NA Name=CTCF NA NA rs12774391 0.23 0.23 0.239 0.235823 0.2276 0.1786 0.1772 0.3956 0.1288 0.24 0.15 0.2 0.36 0.2197 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120389 NA NA 0.238885 0.342347 NA 0.297 NA 4.313815 1229 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 1229 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 1229 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 1229 6 29943035 29943035 G A ncRNA_exonic HCG9 NA NA NA ncRNA_exonic ENSG00000204625 NA NA NA NA NA 6p22.1 NA NA NA NA rs400488 0.21 0.21 0.209 0.233626 0.164 0.1498 0.2637 0.3404 0.226 0.14 0.15 0.29 0.33 0.1898 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.700723 NA NA NA NA NA 0.159 NA 4.3128666 1229 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 1229 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 1229 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 1229 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 1229 10 52086939 52086939 C G intronic SGMS1 NA NA NA intronic ENSG00000198964 NA NA NA Score=558;Name=lod=248 NA 10q11.23 NA Name=GTF2F1_(RAP-74),STAT2,eGFP-GATA2,SMC3_(ab9263),AP-2gamma,BRF2,CEBPB,Mxi1_(bHLH),STAT3,IRF1,HEY1,STAT1,ELF1_(SC-631),GATA-1,NF-E2,eGFP-JunB,MafK_(ab50322),Pol2,CHD2_(N-1250) NA NA rs2246994 0.68 0.68 0.706 0.718251 0.5348 0.7698 0.6095 0.9153 0.6646 0.55 0.73 0.6 0.89 0.5992 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 1.915301 1.915301 NA 0.554419 0.852247 NA 0.804 NA 4.311581 1229 1 20827107 20827107 C T UTR3 MUL1 NM_024544:c.*76G>A NA NA UTR3 ENSG00000090432 ENST00000264198:c.*76G>A NA NA NA NA 1p36.12 NA NA NA NA rs41265061 0.01 0.01 0.005 0.00658946 0.0219 NA 0.013 0.0008 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 0.797898 NA NA NA NA NA 0.014 NA 4.3114334 1229 12 104086631 104086631 C T exonic STAB2 NA synonymous SNV STAB2:NM_017564:exon31:c.C3339T:p.N1113N exonic ENSG00000136011 NA synonymous SNV ENSG00000136011:ENST00000388887:exon31:c.C3339T:p.N1113N NA NA 12q23.3 NA NA NA NA rs703651 0.46 0.46 0.46 0.467851 0.4632 0.5585 0.4092 0.4463 0.4499 0.46 0.52 0.38 0.45 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 -1.13267 NA NA 0.444767 0.440536 ID=COSM147590;OCCURENCE=1(stomach),1(large_intestine) 0.543 NA 4.3112996 1229 3 73433494 73433494 T C exonic PDZRN3 NA synonymous SNV PDZRN3:NM_015009:exon10:c.A2223G:p.S741S exonic ENSG00000121440 NA synonymous SNV ENSG00000121440:ENST00000462146:exon8:c.A1194G:p.S398S,ENSG00000121440:ENST00000466780:exon8:c.A1194G:p.S398S,ENSG00000121440:ENST00000479530:exon8:c.A1374G:p.S458S,ENSG00000121440:ENST00000492909:exon8:c.A1317G:p.S439S,ENSG00000121440:ENST00000535920:exon8:c.A1389G:p.S463S,ENSG00000121440:ENST00000263666:exon10:c.A2223G:p.S741S NA NA 3p13 NA NA NA NA rs13091636 0.41 0.41 0.363 0.358227 0.4702 0.5357 0.428 0.1331 0.3149 0.48 0.55 0.41 0.15 0.4283 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484256 NA NA 0.457093 0.180663 NA 0.355 NA 4.3110736 1229 21 45538647 45538647 T C exonic PWP2 NA synonymous SNV PWP2:NM_005049:exon9:c.T984C:p.I328I exonic ENSG00000241945 NA synonymous SNV ENSG00000241945:ENST00000291576:exon9:c.T984C:p.I328I Score=387;Name=lod=50 NA 21q22.3 NA NA NA NA rs756553 0.67 0.67 0.613 0.602236 0.8231 0.7014 0.6801 0.3517 0.5562 0.82 0.71 0.7 0.36 0.7247 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 0.65657 NA NA 0.808488 0.399909 NA 0.674 NA 4.3103786 1229 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 1229 X 117727327 117727327 T C intronic DOCK11 NA NA NA intronic ENSG00000147251 NA NA NA NA NA Xq24 NA Name=NRSF NA NA rs5909551 0.25 0.25 0.27107 NA NA NA NA NA NA 0.38 0.21 0.2 0.12 0.3221 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.934965 NA NA 0.367638 0.143416 NA 0.123 NA 4.310262 1229 X 2942109 2942109 T C exonic ARSH NA synonymous SNV ARSH:NM_001011719:exon6:c.T949C:p.L317L exonic ENSG00000205667 NA synonymous SNV ENSG00000205667:ENST00000381130:exon6:c.T949C:p.L317L NA NA Xp22.33 NA NA NA NA rs5939407 0.73 0.73 0.73052 NA NA NA NA NA NA 0.66 0.97 0.72 0.58 0.7108 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 -1.245458 NA NA 0.645809 0.606519 NA 0.543 NA 4.3100576 1229 11 68458470 68458470 T C UTR3 GAL NM_015973:c.*15T>C NA NA UTR3 ENSG00000069482 ENST00000265643:c.*15T>C NA NA NA NA 11q13.3 NA Name=MafK_(ab50322),MafK_(SC-477) Name=8 NA rs1042577 0.64 0.64 0.608 0.626997 0.6988 0.7867 0.6729 0.3941 0.6708 0.72 0.78 0.6 0.39 0.6745 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 0.167132 NA NA 0.65021 0.438182 NA 0.594 NA 4.3098234 1229 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 1229 19 6718078 6718078 T G intronic C3 NA NA NA intronic ENSG00000125730 NA NA NA NA NA 19p13.3 NA NA Name=3 NA rs2547438 0.17 0.17 0.142 0.156949 0.2575 0.1409 0.2046 0.0424 0.1912 0.26 0.14 0.19 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 -0.446833 NA NA 0.226395 0.069224 NA 0.167 NA 4.309405 1229 14 22321124 22321124 T C intergenic OR4E2,DAD1 dist=186886;dist=712683 NA NA exonic ENSG00000211787 NA synonymous SNV ENSG00000211787:ENST00000390435:exon2:c.T282C:p.N94N Score=343;Name=lod=33 NA 14q11.2 NA NA NA NA rs2017263 0.42 0.42 0.411 0.451478 0.3777 0.376 0.5187 0.5295 0.4519 0.37 0.38 0.5 0.5 0.426 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814654 NA NA 0.387066 0.510702 ID=COSN164622;OCCURENCE=1(breast) 0.428 NA 4.309234 1229 X 31676096 31676096 G A intronic DMD NA NA NA intronic ENSG00000198947 NA NA NA NA NA Xp21.1 NA NA NA NA rs2270672 0.32 0.32 0.30525 NA NA NA NA NA NA 0.4 0.27 0.23 0.33 0.3398 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.303542 2.303542 NA 0.351078 0.317506 NA 0.275 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000080776.1|RCV000124707.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.309122 1229 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 1229 22 29885861 29885861 T C exonic NEFH NA synonymous SNV NEFH:NM_021076:exon4:c.T2232C:p.A744A exonic ENSG00000100285 NA synonymous SNV ENSG00000100285:ENST00000310624:exon4:c.T2232C:p.A744A NA NA 22q12.2 NA Name=EBF1_(C-8),EBF NA NA rs165923 0.83 0.83 0.812 0.818291 0.7694 0.7917 0.7392 0.8699 0.8824 0.77 0.9 0.81 0.85 0.806 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 -2.039791 NA NA 0.782791 0.834544 NA 0.572 NA 4.3084756 1229 8 142517227 142517227 C T exonic MROH5 NA unknown UNKNOWN exonic ENSG00000226807 NA nonsynonymous SNV ENSG00000226807:ENST00000521053:exon1:c.G23A:p.R8K,ENSG00000226807:ENST00000523857:exon1:c.G23A:p.R8K NA NA 8q24.3 NA NA NA NA rs2613648 0.37 0.37 0.338 0.368211 0.4781 0.3859 0.3127 0.2625 0.4192 0.47 0.38 0.33 0.23 0.4174 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.147963 NA NA 0.462713 0.256489 NA 0.312 NA 4.3084537 1229 8 142517222 142517222 A G exonic MROH5 NA unknown UNKNOWN exonic ENSG00000226807 NA nonsynonymous SNV ENSG00000226807:ENST00000521053:exon1:c.T28C:p.Y10H,ENSG00000226807:ENST00000523857:exon1:c.T28C:p.Y10H NA NA 8q24.3 NA NA NA NA rs2748421 0.37 0.37 0.351 0.368211 0.4781 0.3859 0.3127 0.2625 0.4192 0.47 0.38 0.33 0.23 0.4174 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425236 NA NA 0.463533 0.255803 NA 0.312 NA 4.3076337 1229 2 183799558 183799558 G C exonic NCKAP1 NA synonymous SNV NCKAP1:NM_013436:exon26:c.C2781G:p.V927V,NCKAP1:NM_205842:exon27:c.C2799G:p.V933V exonic ENSG00000061676 NA synonymous SNV ENSG00000061676:ENST00000361354:exon26:c.C2781G:p.V927V,ENSG00000061676:ENST00000360982:exon27:c.C2799G:p.V933V Score=661;Name=lod=649 NA 2q32.1 NA NA NA NA rs9288088 0.73 0.73 0.703 0.703674 0.7883 0.9663 0.7709 0.2791 0.8722 0.8 0.96 0.78 0.31 0.7903 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 0.620297 NA NA 0.780966 0.348885 NA 0.616 NA 4.3071006 1229 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$FOXD3_01 NA NA NA rs4268 0.56 0.56 0.591 0.568091 0.3072 0.5982 0.5072 0.9327 0.3558 0.3 0.61 0.51 0.93 0.4099 0.93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.473309 NA NA 0.309214 0.822207 NA 0.565 NA 4.3070194 1229 12 10763236 10763236 G C exonic MAGOHB NA synonymous SNV MAGOHB:NM_018048:exon2:c.C138G:p.V46V exonic ENSG00000111196 NA synonymous SNV ENSG00000111196:ENST00000320756:exon2:c.C138G:p.V46V,ENSG00000111196:ENST00000381881:exon2:c.C138G:p.V46V,ENSG00000111196:ENST00000544850:exon2:c.C138G:p.V46V Score=602;Name=lod=372 NA 12p13.2 NA NA NA NA rs10845182 0.75 0.75 0.685 0.740815 0.7724 0.9901 0.8184 0.413 0.8395 0.76 0.99 0.79 0.45 0.7897 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69446 NA NA 0.798603 0.496142 NA 0.717 NA 4.3059636 1229 19 49247786 49247786 G A exonic IZUMO1 NA synonymous SNV IZUMO1:NM_182575:exon4:c.C321T:p.F107F exonic ENSG00000182264 NA synonymous SNV ENSG00000182264:ENST00000595937:exon3:c.C321T:p.F107F,ENSG00000182264:ENST00000332955:exon4:c.C321T:p.F107F NA NA 19q13.33 NA NA NA NA rs8108468 0.53 0.53 0.508 0.503994 0.4493 0.8363 0.5403 0.2769 0.499 0.45 0.83 0.54 0.28 0.4768 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344125 NA NA 0.435465 0.283023 NA 0.493 NA 4.3051016 1229 12 49110248 49110248 G A intronic CCNT1 NA NA NA intronic ENSG00000129315 NA NA NA NA NA 12q13.12 Score=766;Name=V$PAX5_02 Name=Pol2(b),ZNF263,YY1_(C-20),Pol2,Ini1,CTCF,E2F6_(H-50) 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 1230 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 1230 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 1230 2 128015143 128015143 G A UTR3 ERCC3 NM_000122:c.*29C>T NA NA UTR3 ENSG00000163161 ENST00000285398:c.*29C>T,ENST00000426778:c.*2359C>T,ENST00000493187:c.*29C>T,ENST00000445889:c.*2421C>T NA NA NA NA 2q14.3 NA NA NA NA rs4150523 0.0037 0.0037 0.004 0.00239617 0.0089 NA NA 0.0015 0.001 0.01 0.0017 NA 0.0041 0.0069 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 0.537687 NA NA 0.01407 0.001135 NA 0.014 NA 4.3034634 1230 4 169369853 169369853 A T exonic DDX60L NA synonymous SNV DDX60L:NM_001012967:exon9:c.T1074A:p.S358S exonic ENSG00000181381 NA synonymous SNV ENSG00000181381:ENST00000505863:exon3:c.T258A:p.S86S,ENSG00000181381:ENST00000260184:exon9:c.T1074A:p.S358S,ENSG00000181381:ENST00000505890:exon9:c.T1074A:p.S358S,ENSG00000181381:ENST00000511577:exon9:c.T1074A:p.S358S Score=309;Name=lod=24 NA 4q32.3 NA NA NA NA rs2712114 0.76 0.76 0.754 0.739617 0.7992 0.9087 0.7896 0.4713 0.8313 0.81 0.9 0.78 0.49 0.7836 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 -0.183483 NA NA 0.780736 0.525578 NA 0.725 NA 4.3031306 1230 10 33123774 33123774 T C exonic C10orf68 NA synonymous SNV C10orf68:NM_024688:exon14:c.T1113C:p.N371N exonic ENSG00000150076 NA synonymous SNV ENSG00000150076:ENST00000375028:exon12:c.T1041C:p.N347N,ENSG00000150076:ENST00000375025:exon13:c.T1221C:p.N407N,ENSG00000150076:ENST00000302316:exon14:c.T1113C:p.N371N,ENSG00000150076:ENST00000375030:exon15:c.T990C:p.N330N NA NA 10p11.22 NA NA NA NA rs11009107 0.26 0.26 0.243 0.21905 0.4642 0.0962 0.3127 0.0212 0.2945 0.48 0.1 0.34 0.03 0.4218 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.749744 NA NA 0.477987 0.103229 NA 0.225 NA 4.3026796 1230 15 51233812 51233812 T C intronic AP4E1 NA NA NA intronic ENSG00000081014 NA NA NA Score=300;Name=lod=22 NA 15q21.2 NA NA NA NA rs2291107 0.25 0.25 0.244 0.208267 0.2266 0.4752 0.2017 0.0673 0.1094 0.22 0.46 0.18 0.09 0.2316 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.804241 3.804241 NA 0.239343 0.109745 NA 0.116 NA 4.302457 1230 18 46284587 46284587 T C exonic CTIF NA synonymous SNV CTIF:NM_014772:exon8:c.T882C:p.L294L,CTIF:NM_001142397:exon9:c.T882C:p.L294L exonic ENSG00000134030 NA synonymous SNV ENSG00000134030:ENST00000256413:exon8:c.T882C:p.L294L,ENSG00000134030:ENST00000382998:exon9:c.T882C:p.L294L NA NA 18q21.1 Score=742;Name=V$PAX4_04 NA NA NA rs1038308 0.85 0.85 0.879 0.859026 0.7833 0.8889 0.7507 0.9955 0.7986 0.78 0.88 0.76 0.99 0.8081 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 -1.240021 NA NA 0.77314 0.958466 ID=COSM1162540,COSM1162539;OCCURENCE=1(pancreas) 0.862 NA 4.3021266 1230 19 43757754 43757754 G T UTR3 PSG9 NM_002784:c.*7C>A NA NA UTR3 ENSG00000183668 ENST00000593948:c.*7C>A,ENST00000270077:c.*7C>A,ENST00000291752:c.*7C>A,ENST00000443718:c.*7C>A NA NA NA NA 19q13.31 NA NA NA NA rs199860983 0.0027 0.0027 NA 0.00319489 0.006 NA 0.0014 NA 0.0092 0.01 NA 0.0028 NA 0.0111 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 -1.055947 NA NA 0.014139 0.003047 NA NA NA 4.3020944 1230 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 1230 12 132396603 132396603 C T exonic ULK1 NA synonymous SNV ULK1:NM_003565:exon13:c.C1065T:p.D355D exonic ENSG00000177169 NA synonymous SNV ENSG00000177169:ENST00000321867:exon13:c.C1065T:p.D355D Score=361;Name=lod=39 NA 12q24.33 NA NA NA NA rs11616018 0.57 0.57 0.567 0.551717 0.829 0.3343 0.7363 0.298 0.7025 0.82 0.34 0.77 0.31 0.7127 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 1.439868 1.439868 NA 0.823057 0.369545 ID=COSM430751;OCCURENCE=1(breast) 0.442 NA 4.3019096 1230 1 10704968 10704968 C T intronic CASZ1 NA NA NA ncRNA_intronic ENSG00000272078 NA NA NA NA NA 1p36.22 NA NA NA NA rs115739667 0.0037 0.0037 0.009 0.00479233 0.0129 NA 0.0029 0.0008 0.0082 0.01 NA NA 0.002 0.0076 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 0.129012 NA NA 0.011143 0.002745 NA 0.007 NA 4.3016903 1230 12 133236000 133236000 C T exonic POLE NA synonymous SNV POLE:NM_006231:exon26:c.G3156A:p.T1052T exonic ENSG00000177084 NA synonymous SNV ENSG00000177084:ENST00000536445:exon1:c.G87A:p.T29T,ENSG00000177084:ENST00000539006:exon20:c.G2496A:p.T832T,ENSG00000177084:ENST00000535270:exon25:c.G3075A:p.T1025T,ENSG00000177084:ENST00000320574:exon26:c.G3156A:p.T1052T NA NA 12q24.33 NA NA NA NA rs5744857 0.58 0.58 0.59 0.605431 0.4314 0.6736 0.5317 0.7602 0.5573 0.43 0.69 0.52 0.74 0.5029 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.138315 NA NA 0.430698 0.701543 NA 0.558 NA 4.3016686 1230 2 38178406 38178406 A G exonic RMDN2 NA synonymous SNV RMDN2:NM_144713:exon2:c.A48G:p.R16R exonic ENSG00000115841 NA synonymous SNV ENSG00000115841:ENST00000234195:exon2:c.A48G:p.R16R,ENSG00000115841:ENST00000402091:exon2:c.A48G:p.R16R,ENSG00000115841:ENST00000407257:exon2:c.A48G:p.R16R NA NA 2p22.2 NA NA NA NA rs4670799 0.3 0.3 0.28 0.328275 0.4553 0.0883 0.3804 0.2247 0.5481 0.46 0.09 0.41 0.23 0.4304 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092186 NA NA 0.479995 0.27576 NA 0.442 NA 4.3009716 1230 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 1230 2 55544680 55544680 A G intronic CCDC88A NA NA NA ncRNA_intronic ENSG00000240401 NA NA NA NA NA 2p16.1 NA NA NA NA rs41281499 0.0023 0.0023 0.006 0.00319489 0.0119 NA 0.0029 NA 0.002 0.01 NA NA NA 0.01 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 2.300019 2.300019 NA 0.011811 0.003001 NA 0.007 NA 4.2996223 1230 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 1230 10 81904638 81904638 G A intronic PLAC9 NA NA NA intronic ENSG00000189129 NA NA NA NA NA 10q22.3 NA Name=Pol2(phosphoS2) Name=14 NA rs2819874 0.53 0.53 0.528 0.525958 0.5567 0.5685 0.6441 0.3858 0.5562 0.54 0.59 0.62 0.36 0.6011 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.620171 NA NA 0.542744 0.409318 NA 0.471 NA 4.299456 1230 8 38103239 38103239 T A intronic DDHD2 NA NA NA intronic ENSG00000085788 NA NA NA NA NA 8p11.23 NA NA Name=3 NA rs7006757 0.27 0.27 0.256 0.218251 0.2545 0.3194 0.2579 0.1891 0.0879 0.25 0.33 0.27 0.22 0.216 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.599865 NA NA 0.230233 0.221591 NA 0.246 NA 4.299267 1230 3 46021218 46021218 G T exonic FYCO1 NA synonymous SNV FYCO1:NM_024513:exon4:c.C267A:p.R89R exonic ENSG00000163820 NA synonymous SNV ENSG00000163820:ENST00000535325:exon3:c.C267A:p.R89R,ENSG00000163820:ENST00000296137:exon4:c.C267A:p.R89R Score=619;Name=lod=438 NA 3p21.31 NA NA NA NA rs4682801 0.79 0.79 0.773 0.762979 0.7972 1 0.8689 0.3835 0.9213 0.82 1 0.87 0.44 0.7989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.993997 NA NA 0.771512 0.436677 NA 0.717 NA 4.2990546 1230 10 124036494 124036494 T C intronic BTBD16 NA NA NA intronic ENSG00000138152 NA NA NA NA NA 10q26.13 NA Name=NF-YB,JunD,CTCF Name=81 NA rs7090214 0.74 0.74 0.75 0.735024 0.5467 0.8869 0.7075 0.8691 0.6104 0.56 0.9 0.67 0.86 0.6211 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 0.916347 NA NA 0.534186 0.830232 NA 0.674 NA 4.298014 1230 19 4852137 4852137 C T exonic PLIN3 NA synonymous SNV PLIN3:NM_001164189:exon5:c.G525A:p.S175S,PLIN3:NM_001164194:exon5:c.G489A:p.S163S,PLIN3:NM_005817:exon5:c.G525A:p.S175S exonic ENSG00000105355 NA synonymous SNV ENSG00000105355:ENST00000589034:exon4:c.G432A:p.S144S,ENSG00000105355:ENST00000221957:exon5:c.G525A:p.S175S,ENSG00000105355:ENST00000585479:exon5:c.G525A:p.S175S,ENSG00000105355:ENST00000592528:exon5:c.G489A:p.S163S NA NA 19p13.3 NA NA NA NA rs1055919 0.48 0.48 0.434 0.48143 0.4682 0.4821 0.5231 0.4297 0.5348 0.47 0.47 0.54 0.45 0.4706 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.620383 NA NA 0.43 0.421017 ID=COSM1394221;OCCURENCE=1(large_intestine) 0.543 NA 4.2978666 1230 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 1230 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 1230 11 10827418 10827418 T C intronic EIF4G2 NA NA NA intronic ENSG00000110321 NA NA NA NA NA 11p15.3 NA Name=Pol2-4H8,CEBPB,JunD,SP1 Name=9 NA rs11042964 0.49 0.49 0.431 0.495008 0.5616 0.5774 0.6614 0.1263 0.7219 0.56 0.6 0.63 0.14 0.575 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390983 NA NA 0.565789 0.189232 NA 0.442 NA 4.297611 1230 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 1230 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 1230 7 21727186 21727186 A G intronic DNAH11 NA NA NA intronic ENSG00000105877 NA NA NA NA NA 7p15.3 NA NA Name=2 NA rs62445282 0.24 0.24 0.238 0.245607 0.2276 0.2054 0.2017 0.3222 0.2331 0.23 0.2 0.23 0.32 0.2523 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917242 NA NA 0.223532 0.301003 NA 0.217 NA 4.296568 1230 20 36841756 36841756 T C exonic KIAA1755 NA synonymous SNV KIAA1755:NM_001029864:exon14:c.A3291G:p.S1097S exonic ENSG00000149633 NA synonymous SNV ENSG00000149633:ENST00000279024:exon14:c.A3291G:p.S1097S NA NA 20q11.23 NA NA NA NA rs1534967 0.41 0.41 0.378 0.393371 0.4344 0.5238 0.4424 0.2436 0.3845 0.45 0.5 0.44 0.24 0.4776 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18373 NA NA 0.458362 0.26532 ID=COSM149170;OCCURENCE=1(stomach) 0.399 NA 4.2963046 1230 17 3635645 3635645 A G intronic ITGAE NA NA NA intronic ENSG00000083457 NA NA NA NA NA 17p13.2 NA Name=PAX5-N19,SMC3_(ab9263),Rad21,PAX5-C20,IRF4_(M-17),CTCF_(C-20),CTCF Name=76 NA rs170209 0.48 0.48 0.458 0.457867 0.5944 0.5427 0.4597 0.2663 0.4877 0.59 0.54 0.49 0.25 0.5393 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.597107 NA NA 0.570116 0.322742 NA 0.413 NA 4.296184 1230 16 57937856 57937856 G C exonic CNGB1 NA synonymous SNV CNGB1:NM_001297:exon27:c.C2664G:p.A888A exonic ENSG00000070729 NA synonymous SNV ENSG00000070729:ENST00000251102:exon27:c.C2664G:p.A888A,ENSG00000070729:ENST00000564448:exon27:c.C2646G:p.A882A NA NA 16q21 NA NA NA NA rs413562 0.83 0.83 0.193 0.704872 0.7555 0.9077 0.7291 0.3964 0.8436 0.84 1 0.86 0.61 0.7604 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.750813 NA NA 0.854731 0.662076 NA 0.645 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079632.1;CLNDSDB=.;CLNDSDBID=. 4.2960356 1230 6 44279309 44279309 C T intronic AARS2 NA NA NA intronic ENSG00000124608,ENSG00000272442 NA NA NA NA NA 6p21.1 NA Name=MafK_(ab50322),MafK_(SC-477) NA NA rs41282672 0.26 0.26 0.307 0.258387 0.2247 0.1994 0.2061 0.4191 0.1738 0.22 0.19 0.2 0.46 0.2386 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.235254 NA NA 0.240814 0.39015 NA 0.29 NA 4.295886 1230 11 22242729 22242729 T C exonic ANO5 NA synonymous SNV ANO5:NM_001142649:exon5:c.T264C:p.D88D,ANO5:NM_213599:exon5:c.T267C:p.D89D exonic ENSG00000171714 NA synonymous SNV ENSG00000171714:ENST00000324559:exon5:c.T267C:p.D89D NA NA 11p14.3 NA NA NA NA rs4312063 0.76 0.76 0.763 0.789936 0.7942 0.5853 0.732 0.9478 0.8241 0.79 0.58 0.73 0.94 0.7772 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 -1.08324 NA NA 0.799605 0.931911 NA 0.87 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|not;CLNACC=RCV000082848.2|RCV000128783.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.2956616 1230 X 1558072 1558072 G A intronic ASMTL NA NA NA intronic ENSG00000169093 NA NA NA NA NA Xp22.33 NA Name=Pol2-4H8 NA NA rs28674639 0.35 0.35 0.38156 NA NA NA NA NA NA 0.36 0.32 0.26 0.42 0.3398 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.839902 NA NA 0.364674 0.424227 NA 0.348 NA 4.295526 1230 10 134036193 134036193 A G exonic STK32C NA synonymous SNV STK32C:NM_173575:exon10:c.T1203C:p.R401R exonic ENSG00000165752 NA synonymous SNV ENSG00000165752:ENST00000298630:exon10:c.T1203C:p.R401R,ENSG00000165752:ENST00000368622:exon10:c.T852C:p.R284R,ENSG00000165752:ENST00000368625:exon10:c.T1242C:p.R414R,ENSG00000165752:ENST00000462160:exon10:c.T1020C:p.R340R Score=597;Name=lod=356 NA 10q26.3 NA NA NA NA rs2818401 0.79 0.79 0.754 0.766174 0.7883 0.8442 0.8573 0.6513 0.7536 0.78 0.87 0.82 0.68 0.7926 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 1.36572 1.36572 NA 0.790649 0.677192 NA 0.732 NA 4.2951176 1231 19 43013394 43013394 A G ncRNA_intronic LOC100996307 NA NA NA ncRNA_intronic ENSG00000213904 NA NA NA NA NA 19q13.2 NA NA NA NA rs10405906 0.26 0.26 0.267 0.278754 0.1014 0.2123 0.304 0.5552 0.138 0.11 0.21 0.25 0.54 0.1733 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.251525 NA NA 0.096977 0.468906 NA 0.261 NA 4.2949896 1231 2 9571054 9571054 C T intronic CPSF3 NA NA NA intronic ENSG00000119203 NA NA NA NA NA 2p25.1 NA Name=c-Fos,c-Jun Name=66 NA rs2002044 0.45 0.45 0.48 0.467452 0.5825 0.0546 0.3991 0.7648 0.4213 0.57 0.04 0.42 0.77 0.5134 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 0.024027 NA NA 0.609419 0.759419 NA 0.514 NA 4.294681 1231 15 84651290 84651290 T C exonic ADAMTSL3 NA synonymous SNV ADAMTSL3:NM_207517:exon21:c.T2910C:p.H970H exonic ENSG00000156218 NA synonymous SNV ENSG00000156218:ENST00000286744:exon21:c.T2910C:p.H970H,ENSG00000156218:ENST00000567476:exon21:c.T2910C:p.H970H Score=414;Name=lod=64 NA 15q25.2 NA NA NA NA rs7176737 0.88 0.88 0.89 0.869209 0.7783 0.9544 0.8703 0.9735 0.7331 0.79 0.96 0.85 0.96 0.8144 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 0.197939 NA NA 0.779302 0.940763 NA 0.862 NA 4.2946646 1231 22 29886413 29886413 A G exonic NEFH NA synonymous SNV NEFH:NM_021076:exon4:c.A2784G:p.V928V exonic ENSG00000100285 NA synonymous SNV ENSG00000100285:ENST00000310624:exon4:c.A2784G:p.V928V NA NA 22q12.2 NA NA NA NA rs165625 0.83 0.83 0.812 0.850439 0.7694 0.9256 0.7695 0.8699 0.8875 0.77 0.91 0.81 0.85 0.819 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 -0.424398 NA NA 0.783721 0.834317 NA 0.739 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000057195.1;CLNDSDB=.;CLNDSDBID=. 4.2945456 1231 11 66327673 66327673 G A exonic ACTN3 NA unknown UNKNOWN exonic ENSG00000248746 NA unknown UNKNOWN Score=525;Name=lod=182 NA 11q13.2 NA NA NA NA rs1671064 0.61 0.61 0.645 0.586462 0.5606 0.5565 0.4193 0.8449 0.4131 0.56 0.57 0.46 0.85 0.5918 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 0.75378 NA NA 0.553387 0.79274 NA 0.493 NA 4.294213 1231 11 8248482 8248482 C T intronic LMO1 NA NA NA intronic ENSG00000166407 NA NA NA NA NA 11p15.4 Score=786;Name=V$AHR_01 NA NA NA rs2290450 0.17 0.17 0.144 0.126597 0.2565 0.1776 0.0778 0.0371 0.0961 0.27 0.18 0.09 0.05 0.2053 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.681285 NA NA 0.244117 0.075444 NA 0.109 NA 4.294083 1231 17 53076986 53076986 G A intronic STXBP4 NA NA NA splicing ENSG00000166263 ENST00000299341:exon6:c.57-1G>A,ENST00000398391:exon5:c.57-1G>A NA NA NA NA 17q22 NA NA NA NA rs11658717 0.79 0.79 0.789 0.771366 0.7356 0.8958 0.8242 0.6505 0.8057 0.74 0.9 0.82 0.71 0.7559 0.9 . . . . . . . . 0.998 P . . . . . . . . . 0.061 4.333 2.42 -0.151 . 3.824 0.061195 NA NA 0.714884 0.648955 NA 0.71 NA 4.293616 1231 6 44279111 44279111 A G intronic AARS2 NA NA NA intronic ENSG00000124608,ENSG00000272442 NA NA NA NA NA 6p21.1 NA Name=MafK_(ab50322) NA NA rs9688508 0.26 0.26 0.28 0.258387 0.2247 0.1994 0.2061 0.4191 0.1738 0.22 0.19 0.2 0.46 0.24 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148875 NA NA 0.241744 0.3931 NA 0.297 NA 4.293556 1231 7 150094853 150094853 G A exonic ZNF775 NA synonymous SNV ZNF775:NM_173680:exon3:c.G1284A:p.T428T exonic ENSG00000196456 NA synonymous SNV ENSG00000196456:ENST00000329630:exon3:c.G1284A:p.T428T NA NA 7q36.1 NA NA NA NA rs7780011 0.45 0.45 0.428 0.457867 0.4563 0.3115 0.5677 0.5514 0.4059 0.47 0.31 0.52 0.53 0.4733 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.643194 NA NA 0.443673 0.48225 ID=COSM452592;OCCURENCE=1(breast) 0.225 NA 4.2933936 1231 2 180047908 180047908 T C exonic SESTD1 NA synonymous SNV SESTD1:NM_178123:exon3:c.A63G:p.K21K exonic ENSG00000187231 NA synonymous SNV ENSG00000187231:ENST00000428443:exon3:c.A63G:p.K21K,ENSG00000187231:ENST00000435047:exon3:c.A63G:p.K21K,ENSG00000187231:ENST00000440010:exon3:c.A63G:p.K21K,ENSG00000187231:ENST00000452991:exon3:c.A63G:p.K21K Score=583;Name=lod=312 NA 2q31.2 NA NA NA NA rs6757681 0.83 0.83 0.849 0.859625 0.7873 0.9077 0.8314 0.8411 0.9294 0.8 0.93 0.8 0.81 0.8187 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 0.8032 NA NA 0.767558 0.837721 NA 0.783 NA 4.2931086 1231 5 141353114 141353114 A C intronic RNF14 NA NA NA ncRNA_intronic ENSG00000254099 NA NA NA NA NA 5q31.3 NA NA NA NA rs147402888 0.01 0.01 0.005 0.00559105 0.0189 NA 0.0043 0.0008 0.0051 0.01 NA 0.01 NA 0.0102 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 0.60361 NA NA 0.012442 0.003177 NA NA NA 4.2917913 1231 21 41032804 41032804 G A exonic B3GALT5 NA synonymous SNV B3GALT5:NM_006057:exon3:c.G318A:p.T106T,B3GALT5:NM_033170:exon3:c.G318A:p.T106T,B3GALT5:NM_033172:exon3:c.G318A:p.T106T,B3GALT5:NM_033171:exon4:c.G318A:p.T106T exonic ENSG00000183778 NA synonymous SNV ENSG00000183778:ENST00000398714:exon2:c.G318A:p.T106T,ENSG00000183778:ENST00000343118:exon3:c.G318A:p.T106T,ENSG00000183778:ENST00000380618:exon3:c.G318A:p.T106T,ENSG00000183778:ENST00000380620:exon5:c.G318A:p.T106T NA NA 21q22.2 NA Name=c-Jun,c-Fos NA NA rs734413 0.64 0.64 0.592 0.629393 0.8151 0.6468 0.7147 0.3064 0.7965 0.82 0.61 0.75 0.33 0.7511 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 0.097229 NA NA 0.808953 0.376759 ID=COSM149225;OCCURENCE=1(stomach) 0.696 NA 4.2915136 1231 1 20020993 20020993 A G exonic TMCO4 NA synonymous SNV TMCO4:NM_181719:exon15:c.T1434C:p.R478R exonic ENSG00000162542 NA synonymous SNV ENSG00000162542:ENST00000375122:exon14:c.T1314C:p.R438R,ENSG00000162542:ENST00000375127:exon14:c.T1434C:p.R478R,ENSG00000162542:ENST00000294543:exon15:c.T1434C:p.R478R NA NA 1p36.13 Score=762;Name=V$PAX5_01 NA NA NA rs4370779 0.63 0.63 0.655 0.660144 0.8042 0.5823 0.6787 0.525 0.7618 0.71 0.6 0.67 0.5 0.7615 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 -1.010058 NA NA 0.809651 0.567181 NA 0.217 NA 4.2913156 1231 14 106780634 106780634 G A intergenic LINC00226,LINC00221 dist=35668;dist=157821 NA NA exonic ENSG00000211952 NA nonsynonymous SNV ENSG00000211952:ENST00000390612:exon2:c.C230T:p.T77I NA NA 14q32.33 NA NA NA NA rs34629512 0.22 0.22 0.173 0.239816 0.173 0.2966 0.1801 0.3298 0.1708 0.16 0.26 0.18 0.28 0.191 0.28 NA NA 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 0.01 0.178029 0.27939 NA 0.188 NA 4.2913044 1231 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 1231 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 1231 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 1231 1 17662639 17662639 T C intronic PADI4 NA NA NA intronic ENSG00000159339,ENSG00000269468 NA NA NA NA NA 1p36.13 NA Name=CTCF Name=118 NA rs2240340 0.54 0.54 0.49 0.515176 0.5716 0.5605 0.5389 0.4183 0.5245 0.59 0.59 0.52 0.42 0.5619 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.951045 NA NA 0.576395 0.468225 NA 0.428 NA 4.290105 1231 13 28883061 28883061 G A exonic FLT1 NA synonymous SNV FLT1:NM_002019:exon28:c.C3639T:p.Y1213Y exonic ENSG00000102755 NA synonymous SNV ENSG00000102755:ENST00000543394:exon8:c.C708T:p.Y236Y,ENSG00000102755:ENST00000540678:exon15:c.C1293T:p.Y431Y,ENSG00000102755:ENST00000282397:exon28:c.C3639T:p.Y1213Y Score=487;Name=lod=127 NA 13q12.2 NA NA NA NA rs7993418 0.74 0.74 0.704 0.730831 0.7952 1 0.8285 0.2769 0.9315 0.8 1 0.8 0.3 0.7921 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133587 NA NA 0.789535 0.367453 NA 0.667 NA 4.2898316 1231 12 50348078 50348078 T C exonic AQP2 NA synonymous SNV AQP2:NM_000486:exon2:c.T501C:p.S167S exonic ENSG00000167580 NA synonymous SNV ENSG00000167580:ENST00000199280:exon2:c.T501C:p.S167S,ENSG00000167580:ENST00000550862:exon2:c.T501C:p.S167S,ENSG00000167580:ENST00000551526:exon2:c.T501C:p.S167S NA NA 12q13.12 Score=787;Name=V$CDPCR3_01 NA NA NA rs426496 0.69 0.69 0.656 0.667133 0.8141 0.6796 0.8357 0.4334 0.6994 0.8 0.65 0.81 0.48 0.7593 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 0.809093 NA NA 0.803605 0.477985 NA 0.659 NA 4.2896616 1231 19 1106477 1106477 G C intronic GPX4 NA NA NA intronic ENSG00000167468 NA NA NA NA NA 19p13.3 NA Name=Pol2 NA NA rs8178977 0.23 0.23 0.207 0.237021 0.2207 0.1151 0.3818 0.2753 0.2249 0.22 0.13 0.33 0.3 0.2544 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.336828 NA NA 0.235316 0.272582 NA 0.232 NA 4.289584 1231 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 1231 6 10764727 10764727 A G exonic MAK NA synonymous SNV MAK:NM_001242385:exon13:c.T1710C:p.H570H,MAK:NM_005906:exon14:c.T1830C:p.H610H,MAK:NM_001242957:exon15:c.T1905C:p.H635H exonic ENSG00000111837 NA synonymous SNV ENSG00000111837:ENST00000354489:exon13:c.T1830C:p.H610H,ENSG00000111837:ENST00000313243:exon14:c.T1830C:p.H610H,ENSG00000111837:ENST00000474039:exon14:c.T1830C:p.H610H Score=543;Name=lod=214 NA 6p24.2 NA NA NA NA rs126405 0.87 0.87 0.875 0.865615 0.7952 0.9167 0.7911 0.9652 0.8037 0.81 0.92 0.77 0.95 0.8132 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 0.114853 NA NA 0.76907 0.932138 NA 0.833 NA 4.2891966 1231 6 168363302 168363302 G A UTR3 MLLT4 NM_001040000:c.*40G>A NA NA UTR3 ENSG00000130396 ENST00000344191:c.*40G>A,ENST00000392108:c.*40G>A,ENST00000476946:c.*40G>A NA NA NA NA 6q27 NA NA NA NA rs41266293 0.01 0.01 0.008 0.00539137 0.0159 0.001 0.0086 NA 0.0041 0.02 0.0017 0.01 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 0.64709 NA NA 0.016876 0.003085 NA NA NA 4.2890574 1231 16 28992755 28992755 C T intronic SPNS1 NA NA NA ncRNA_intronic ENSG00000261067 NA NA NA NA NA 16p11.2 NA NA NA NA rs4539629 0.02 0.02 0.009 0.0323482 0.003 NA 0.2133 0.0038 0.0061 0.0026 NA 0.14 0.0041 0.0288 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.046754 NA NA 0.012674 0.005234 NA 0.022 NA 4.2888593 1231 11 34938265 34938265 C T exonic PDHX NA synonymous SNV PDHX:NM_001166158:exon1:c.C63T:p.P21P,PDHX:NM_003477:exon1:c.C63T:p.P21P exonic ENSG00000110435 NA synonymous SNV ENSG00000110435:ENST00000227868:exon1:c.C63T:p.P21P,ENSG00000110435:ENST00000430469:exon1:c.C63T:p.P21P,ENSG00000110435:ENST00000533262:exon1:c.C63T:p.P21P NA NA 11p13 NA Name=Pol2,Pol2(phosphoS2),POU2F2,E2F6_(H-50),TCF12,Pol2-4H8,TAF1,HMGN3,NFKB,HEY1,Oct-2,Max,YY1_(C-20),PAX5-C20,Sin3Ak-20,GATA3_(SC-268),YY1,Pol2(b),PAX5-N19,TBP,CCNT2 NA NA rs2956109 0.79 0.79 0.809 0.764577 0.8012 0.8244 0.6715 0.7655 0.7301 0.82 0.82 0.69 0.78 0.7744 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 0.676254 NA NA 0.80235 0.785876 NA 0.804 NA 4.2887166 1231 12 69233634 69233634 C T UTR3 MDM2 NM_002392:c.*5C>T NA NA UTR3 ENSG00000135679 ENST00000462284:c.*5C>T,ENST00000428863:c.*5C>T,ENST00000540827:c.*5C>T,ENST00000356290:c.*5C>T,ENST00000258149:c.*5C>T,ENST00000393412:c.*5C>T,ENST00000311420:c.*1110C>T,ENST00000393417:c.*1355C>T,ENST00000258148:c.*5C>T NA NA NA NA 12q15 NA NA NA NA rs710633 0.01 0.01 0.007 0.00798722 0.0169 NA 0.0072 NA 0.0184 0.02 NA 0.01 NA 0.0125 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 1.590793 1.590793 NA 0.015793 0.002743 NA NA NA 4.2881404 1231 1 87045587 87045587 C T intronic CLCA4 NA NA NA ncRNA_intronic ENSG00000236915 NA NA NA NA NA 1p22.3 NA NA NA NA rs2231603 0.01 0.01 0.008 0.00878594 0.0169 NA 0.0245 0.0015 0.0082 0.02 NA 0.02 0.0041 0.0119 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 0.319503 NA NA 0.017296 0.00138 NA 0.014 NA 4.2872373 1231 5 141337225 141337225 A G exonic PCDH12 NA synonymous SNV PCDH12:NM_016580:exon1:c.T192C:p.A64A exonic ENSG00000113555 NA synonymous SNV ENSG00000113555:ENST00000231484:exon1:c.T192C:p.A64A NA NA 5q31.3 NA NA Name=18 NA rs164077 0.77 0.77 0.722 0.752396 0.7763 0.9732 0.8401 0.4675 0.8231 0.76 0.98 0.82 0.5 0.8021 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 -0.516728 NA NA 0.801163 0.520654 NA 0.725 NA 4.2871036 1231 1 2340200 2340200 T C exonic PEX10 NA synonymous SNV PEX10:NM_002617:exon3:c.A291G:p.T97T,PEX10:NM_153818:exon3:c.A291G:p.T97T exonic ENSG00000157911 NA synonymous SNV ENSG00000157911:ENST00000288774:exon3:c.A291G:p.T97T,ENSG00000157911:ENST00000447513:exon3:c.A291G:p.T97T,ENSG00000157911:ENST00000507596:exon3:c.A291G:p.T97T,ENSG00000157911:ENST00000510434:exon3:c.A291G:p.T97T NA NA 1p36.32 NA NA NA NA rs2494598 0.73 0.73 0.727 0.698882 0.7913 0.7282 0.7666 0.5688 0.7014 0.79 0.76 0.75 0.57 0.7714 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 -1.193393 NA NA 0.816977 0.600999 NA 0.551 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117902.2;CLNDSDB=.;CLNDSDBID=. 4.2869896 1231 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 1231 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 1231 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 1231 19 7512065 7512065 T A intronic ARHGEF18 NA NA NA intronic ENSG00000104880,ENSG00000268861 NA NA NA NA NA 19p13.2 NA Name=MafK_(ab50322) NA NA rs59050162 0.2 0.2 0.15 0.170128 0.2296 0.1319 0.2061 0.149 0.1513 0.26 0.16 0.19 0.14 0.303 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.306858 1.306858 NA 0.182209 0.118756 NA 0.065 NA 4.285191 1232 22 50757348 50757348 G A intronic DENND6B NA NA NA intronic ENSG00000205593 NA NA NA NA NA 22q13.33 Score=905;Name=V$P300_01 Name=GABP NA NA rs62241232 0.5 0.5 0.482 0.454872 0.5934 0.5536 0.5605 0.3011 0.3436 0.58 0.52 0.59 0.31 0.5438 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.364185 1.364185 NA 0.57837 0.339608 NA 0.377 NA 4.28443 1232 22 22569554 22569554 C A intergenic TOP3B,VPREB1 dist=232407;dist=29646 NA NA exonic ENSG00000211642 NA nonsynonymous SNV ENSG00000211642:ENST00000390287:exon2:c.C246A:p.F82L Score=355;Name=lod=37 NA 22q11.22 NA NA NA NA rs6001413 0.51 0.51 0.508 0.482428 0.5378 0.5903 0.4366 0.4395 0.4049 0.53 0.6 0.46 0.43 0.5003 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.07462 2.07462 0.08 0.510898 0.430521 NA 0.486 NA 4.2843354 1232 1 217947738 217947738 G A exonic SPATA17 NA synonymous SNV SPATA17:NM_138796:exon7:c.G582A:p.Q194Q exonic ENSG00000162814 NA synonymous SNV ENSG00000162814:ENST00000366933:exon7:c.G582A:p.Q194Q NA NA 1q41 Score=833;Name=V$OCT1_05 NA NA NA rs6604561 0.73 0.73 0.743 0.726837 0.8101 0.7292 0.6801 0.6861 0.727 0.79 0.75 0.64 0.66 0.7737 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 -1.133744 NA NA 0.79907 0.710849 NA 0.775 NA 4.2837966 1232 19 58570697 58570697 G T intronic ZNF135 NA NA NA intronic ENSG00000176293 NA NA NA NA NA 19q13.43 NA Name=GABP,Nrf1,TBP NA NA rs7256947 0.29 0.29 0.301 0.290136 0.3678 0.1776 0.3991 0.2179 0.3466 0.35 0.21 0.37 0.23 0.3485 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.389558 NA NA NA NA NA 0.072 NA 4.2837 1232 6 30231224 30231224 G A ncRNA_exonic HLA-L NA NA NA ncRNA_exonic ENSG00000243753 NA NA NA NA NA 6p22.1 NA NA NA NA rs3094073 0.1 0.1 0.115 0.0860623 0.1223 0.0496 0.0663 0.1135 0.0634 0.13 0.06 0.09 0.1 0.1155 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836334 NA NA 0.146163 0.108261 NA 0.152 NA 4.2827036 1232 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 1232 14 35228090 35228090 G A intronic BAZ1A NA NA NA intronic ENSG00000198604 NA NA NA NA NA 14q13.1 NA Name=FOXA1_(SC-101058),FOXA1_(C-20),FOXA2_(SC-6554) NA NA rs61981202 0.2 0.2 0.195 0.169129 0.2515 0.2202 0.1398 0.056 0.2055 0.27 0.23 0.18 0.07 0.2154 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.720677 NA NA 0.250698 0.082842 NA 0.13 NA 4.282402 1232 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 1232 2 234255565 234255565 C T UTR3 SAG NM_000541:c.*7C>T NA NA UTR3 ENSG00000130561 ENST00000409110:c.*7C>T NA NA NA NA 2q37.1 NA NA NA NA rs692 0.02 0.02 0.009 0.0177716 0.007 0.0218 0.0692 0.0023 0.0092 0.01 0.02 0.08 0.0041 0.0324 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 -0.011704 NA NA 0.012437 0.003972 NA 0.014 NA 4.2814964 1232 X 71349753 71349753 G A exonic RGAG4 NA synonymous SNV RGAG4:NM_001024455:exon1:c.C1638T:p.R546R exonic ENSG00000242732 NA synonymous SNV ENSG00000242732:ENST00000479991:exon1:c.C1638T:p.R546R,ENSG00000242732:ENST00000545866:exon1:c.C1638T:p.R546R NA NA Xq13.1 NA NA NA NA rs12397326 0.38 0.38 0.3744 NA NA NA NA NA NA 0.78 0.04 0.54 0.04 0.6002 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 -0.027274 NA NA 0.785504 0.155236 NA 0.246 NA 4.2809626 1232 3 111860116 111860116 G T UTR3 SLC9C1 NM_183061:c.*3C>A NA NA UTR3 ENSG00000172139 ENST00000305815:c.*3C>A,ENST00000487372:c.*3C>A,ENST00000471295:c.*1866C>A NA NA NA NA 3q13.2 NA NA NA NA rs74836755 0.01 0.01 0.006 0.00938498 0.0159 NA 0.0187 NA 0.0184 0.01 NA 0.02 0.002 0.0169 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 -0.159142 NA NA 0.019767 0.004539 NA 0.014 NA 4.2807664 1232 7 30878954 30878954 T C ncRNA_intronic INMT-FAM188B NA NA NA intronic ENSG00000106125,ENSG00000254959 NA NA NA NA NA 7p14.3 NA NA NA NA rs117995346 0.01 0.01 0.003 0.00599042 0.0199 NA 0.0115 0.0008 0.001 0.02 NA 0.02 0.002 0.0126 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 1.998584 1.998584 NA 0.020285 0.005179 NA NA NA 4.2805483 1232 17 11648332 11648332 C T exonic DNAH9 NA synonymous SNV DNAH9:NM_001372:exon31:c.C6330T:p.N2110N exonic ENSG00000007174 NA synonymous SNV ENSG00000007174:ENST00000262442:exon31:c.C6330T:p.N2110N,ENSG00000007174:ENST00000454412:exon31:c.C6330T:p.N2110N Score=295;Name=lod=21 NA 17p12 NA NA NA NA rs3744578 0.78 0.78 0.766 0.770168 0.7932 0.9345 0.8386 0.5605 0.8119 0.8 0.93 0.81 0.54 0.7938 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 0.012525 NA NA 0.799186 0.612347 NA 0.746 NA 4.2804806 1232 3 138189658 138189658 A G intronic ESYT3 NA NA NA intronic ENSG00000158220 NA NA NA NA NA 3q22.3 NA NA Name=6 NA rs3813264 0.59 0.59 0.56 0.565695 0.7197 0.5476 0.7565 0.3056 0.6421 0.71 0.58 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 -0.468417 NA NA NA NA NA 0.529 NA 4.2803 1232 19 55739515 55739515 T C intronic TMEM86B NA NA NA UTR3 ENSG00000269808 ENST00000598855:c.*61T>C NA NA NA NA 19q13.42 NA Name=p300,NRSF Name=13 NA rs4255895 0.68 0.68 0.653 0.673722 0.6292 0.6984 0.7075 0.7027 0.6309 0.64 0.74 0.67 0.7 0.6494 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.101693 NA NA 0.608751 0.665831 NA 0.739 NA 4.2793157 1232 5 73339114 73339114 C T intergenic ARHGEF28,ENC1 dist=101296;dist=584117 NA NA intergenic ENSG00000259968,ENSG00000248474 dist=89275;dist=40779 NA NA NA NA 5q13.3 NA Name=STAT3 Name=87 NA rs285599 0.47 0.47 0.45 0.515176 0.327 0.6042 0.4611 0.6029 0.5368 0.31 0.62 0.46 0.53 0.397 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206332 NA NA 0.330236 0.556507 NA 0.457 NA 4.2790974 1232 16 57062177 57062177 T A intronic NLRC5 NA NA NA intronic ENSG00000140853 NA NA NA NA NA 16q13 NA Name=FOXA1_(C-20) Name=15 NA rs1684576 0.5 0.5 0.486 0.460663 0.5895 0.3462 0.4798 0.4728 0.4162 0.59 0.36 0.55 0.51 0.5304 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.069179 NA NA 0.601163 0.491811 ID=COSN165214;OCCURENCE=1(NS) 0.428 NA 4.278937 1232 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 1232 17 76496350 76496350 A C ncRNA_exonic LOC100996295 NA NA NA exonic ENSG00000268470 NA nonsynonymous SNV ENSG00000268470:ENST00000598378:exon1:c.A282C:p.E94D NA NA 17q25.3 NA NA NA NA rs35901117 0.47 0.47 0.45 0.431909 0.3976 0.6865 0.4207 0.3185 0.3661 0.42 0.67 0.41 0.37 0.465 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 -0.809737 NA NA 0.359937 0.330825 NA 0.464 NA 4.277463 1232 1 154317153 154317153 C T exonic ATP8B2 NA synonymous SNV ATP8B2:NM_020452:exon21:c.C2277T:p.S759S exonic ENSG00000143515 NA synonymous SNV ENSG00000143515:ENST00000368489:exon21:c.C2277T:p.S759S NA NA 1q21.3 NA NA NA NA rs1194587 0.44 0.44 0.398 0.419928 0.4523 0.624 0.4899 0.1203 0.5317 0.46 0.62 0.52 0.13 0.4645 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.142215 NA NA 0.472558 0.179074 NA 0.457 NA 4.2773086 1232 11 1432691 1432691 T C exonic BRSK2 NA synonymous SNV BRSK2:NM_001256630:exon1:c.T57C:p.C19C exonic ENSG00000174672 NA synonymous SNV ENSG00000174672:ENST00000382179:exon1:c.T57C:p.C19C NA NA 11p15.5 NA NA NA NA rs61868960 0.32 0.32 0.327 0.277955 0.4901 0.0278 0.3141 0.3283 0.2239 0.49 0.02 0.36 0.37 0.4081 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032184 NA NA 0.491453 0.383295 NA 0.377 NA 4.2770136 1232 20 4880308 4880308 G A exonic SLC23A2 NA synonymous SNV SLC23A2:NM_005116:exon6:c.C375T:p.A125A,SLC23A2:NM_203327:exon6:c.C375T:p.A125A exonic ENSG00000089057 NA synonymous SNV ENSG00000089057:ENST00000338244:exon6:c.C375T:p.A125A,ENSG00000089057:ENST00000379333:exon6:c.C375T:p.A125A,ENSG00000089057:ENST00000424750:exon6:c.C375T:p.A125A NA NA 20p13 NA NA NA NA rs1776964 0.47 0.47 0.472 0.450479 0.4622 0.5446 0.4236 0.3638 0.4775 0.47 0.61 0.45 0.33 0.4713 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.04742 NA NA 0.457442 0.391058 NA 0.507 NA 4.2757246 1232 16 23197545 23197545 C G intronic SCNN1G NA NA NA intronic ENSG00000166828 NA NA NA NA NA 16p12.2 NA Name=EBF NA NA rs5731 0.2 0.2 0.165 0.196885 0.2455 0.1488 0.3588 0.1036 0.2076 0.24 0.16 0.3 0.11 0.2354 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.782891 NA NA 0.243429 0.125626 NA 0.101 NA 4.275671 1232 5 160042989 160042989 G T intronic ATP10B NA NA NA ncRNA_intronic ENSG00000253687 NA NA NA NA NA 5q34 NA NA NA NA rs145223150 0.01 0.01 0.006 0.00938498 0.0189 NA 0.0144 0.0015 0.0164 0.01 NA 0.01 NA 0.0156 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 1.141462 NA NA 0.023174 0.003931 NA NA NA 4.2756593 1232 1 54344282 54344282 C A intronic YIPF1 NA NA NA intronic ENSG00000058799 NA NA NA NA NA 1p32.3 NA Name=CTCF_(SC-5916),CTCF_(C-20),RFX5_(N-494),SMC3_(ab9263),Rad21,CTCF Name=138 NA rs2272928 0.66 0.66 0.699 0.692891 0.5676 0.8502 0.5014 0.761 0.7035 0.55 0.85 0.52 0.73 0.6034 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 -0.23729 NA NA 0.553605 0.744666 NA 0.659 NA 4.275395 1232 21 39086965 39086965 T C exonic KCNJ6 NA synonymous SNV KCNJ6:NM_002240:exon3:c.A495G:p.P165P exonic ENSG00000157542 NA synonymous SNV ENSG00000157542:ENST00000288309:exon3:c.A495G:p.P165P,ENSG00000157542:ENST00000400482:exon3:c.A495G:p.P165P NA NA 21q22.13 NA NA NA Score=84;Name=1470017.2_2_+_84 rs2070995 0.8 0.8 0.801 0.823283 0.7982 0.6389 0.804 0.9932 0.8231 0.81 0.64 0.8 0.99 0.8067 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 -0.340301 NA NA 0.786553 0.953005 NA 0.783 NA 4.2752136 1232 15 55972651 55972651 A G intronic PRTG NA NA NA ncRNA_exonic ENSG00000259180 NA NA NA NA NA 15q21.3 NA NA NA NA rs11636555 0.01 0.01 0.012 0.00838658 0.0199 0.001 0.0274 NA 0.002 0.02 NA 0.04 NA 0.0166 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 0.844796 NA NA 0.021621 0.006211 NA NA NA 4.2752123 1233 19 3150071 3150071 G T intronic GNA15 NA NA NA ncRNA_intronic ENSG00000267551 NA NA NA NA NA 19p13.3 NA NA NA NA rs3815310 0.17 0.17 0.194 0.192891 0.0586 0.1895 0.0519 0.382 0.1789 0.06 0.2 0.05 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 -0.111003 NA NA NA NA NA 0.188 NA 4.2747333 1233 1 154310048 154310048 C G exonic ATP8B2 NA synonymous SNV ATP8B2:NM_001005855:exon12:c.C1062G:p.L354L exonic ENSG00000143515 NA synonymous SNV ENSG00000143515:ENST00000368487:exon12:c.C1062G:p.L354L NA NA 1q21.3 NA NA NA NA rs1760795 0.44 0.44 0.419 0.429912 0.4523 0.624 0.4957 0.1551 0.5317 0.46 0.62 0.52 0.15 0.4682 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374523 NA NA 0.472326 0.211757 NA 0.457 NA 4.2738406 1233 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 1233 5 56178217 56178217 A C exonic MAP3K1 NA synonymous SNV MAP3K1:NM_005921:exon14:c.A3190C:p.R1064R exonic ENSG00000095015 NA synonymous SNV ENSG00000095015:ENST00000399503:exon14:c.A3190C:p.R1064R Score=543;Name=lod=215 NA 5q11.2 NA NA NA NA rs832583 0.7 0.7 0.69 0.708267 0.8052 0.5704 0.6527 0.7126 0.7843 0.8 0.53 0.68 0.74 0.7653 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 0.524591 NA NA 0.823264 0.747611 NA 0.746 NA 4.2729026 1233 16 74753079 74753079 C T intronic FA2H NA NA NA intronic ENSG00000103089 NA NA NA NA NA 16q23.1 NA Name=CTCF_(SC-5916),CTCF NA NA rs2074629 0.28 0.28 0.326 0.257388 0.2525 0.251 0.1628 0.3956 0.1493 0.26 0.27 0.17 0.4 0.2282 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43121 NA NA 0.246512 0.389445 NA 0.232 NA 4.272788 1233 7 14758273 14758273 C T exonic DGKB NA synonymous SNV DGKB:NM_004080:exon5:c.G360A:p.R120R,DGKB:NM_145695:exon5:c.G360A:p.R120R exonic ENSG00000136267 NA synonymous SNV ENSG00000136267:ENST00000258767:exon5:c.G360A:p.R120R,ENSG00000136267:ENST00000399322:exon5:c.G360A:p.R120R,ENSG00000136267:ENST00000406247:exon5:c.G360A:p.R120R,ENSG00000136267:ENST00000407950:exon5:c.G339A:p.R113R,ENSG00000136267:ENST00000444700:exon5:c.G339A:p.R113R,ENSG00000136267:ENST00000402815:exon6:c.G360A:p.R120R,ENSG00000136267:ENST00000403951:exon6:c.G360A:p.R120R NA NA 7p21.2 NA NA NA NA rs1997040 0.52 0.52 0.503 0.50599 0.4384 0.8819 0.5893 0.1467 0.6145 0.45 0.89 0.54 0.17 0.5009 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 -0.901302 NA NA 0.454723 0.205038 NA 0.413 NA 4.2726436 1233 7 6054987 6054987 G A intronic AIMP2 NA NA NA intronic ENSG00000106305 NA NA NA Score=429;Name=lod=74 NA 7p22.1 NA NA NA NA rs6979676 0.24 0.24 0.253 0.250399 0.2366 0.1607 0.1916 0.3502 0.2638 0.24 0.16 0.21 0.34 0.2476 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.871752 2.871752 NA 0.243488 0.334317 NA 0.312 NA 4.272312 1233 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 1233 6 29795657 29795657 G A exonic HLA-G NA synonymous SNV HLA-G:NM_002127:exon2:c.G36A:p.L12L exonic ENSG00000204632 NA synonymous SNV ENSG00000204632:ENST00000360323:exon1:c.G36A:p.L12L,ENSG00000204632:ENST00000376815:exon1:c.G36A:p.L12L,ENSG00000204632:ENST00000376818:exon1:c.G36A:p.L12L,ENSG00000204632:ENST00000478519:exon1:c.G36A:p.L12L,ENSG00000204632:ENST00000376828:exon2:c.G51A:p.L17L,ENSG00000204632:ENST00000428701:exon2:c.G36A:p.L12L NA NA 6p22.1 NA NA NA NA rs1630185 0.5 0.5 0.468 0.544329 0.4324 0.6032 0.4654 0.5083 0.7035 0.42 0.64 0.46 0.5 0.4995 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.48027 NA NA 0.462717 0.508934 NA 0.572 NA 4.2720496 1233 5 177422908 177422908 A G exonic PROP1 NA synonymous SNV PROP1:NM_006261:exon1:c.T27C:p.A9A exonic ENSG00000175325 NA synonymous SNV ENSG00000175325:ENST00000308304:exon1:c.T27C:p.A9A NA NA 5q35.3 NA NA NA NA rs1135320 0.46 0.46 0.414 0.447684 0.4712 0.5595 0.4942 0.2481 0.545 0.46 0.6 0.49 0.25 0.4758 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12045 NA NA 0.447674 0.286428 NA 0.399 NA 4.2719926 1233 2 241834875 241834875 G A intronic C2orf54 NA NA NA intronic ENSG00000172478 NA NA NA NA NA 2q37.3 NA Name=BCL3 NA NA rs3936205 0.21 0.21 0.205 0.18131 0.2038 0.3125 0.2522 0.0703 0.1227 0.21 0.32 0.21 0.09 0.3183 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093182 NA NA 0.205999 0.092864 NA 0.145 NA 4.271901 1233 15 75115895 75115895 G A intronic LMAN1L NA NA NA ncRNA_intronic ENSG00000261606 NA NA NA NA NA 15q24.1 NA Name=JunD Name=9 NA rs7162232 0.61 0.61 0.603 0.617412 0.6819 0.6369 0.4914 0.5779 0.6738 0.69 0.58 0.56 0.57 0.6617 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.124417 NA NA 0.718808 0.604233 NA 0.601 NA 4.2709253 1233 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 1233 8 71646680 71646680 A G UTR3 XKR9 NM_001011720:c.*21A>G NA NA UTR3 ENSG00000221947 ENST00000408926:c.*21A>G,ENST00000520092:c.*883A>G,ENST00000520030:c.*21A>G NA NA NA NA 8q13.3 NA NA NA NA rs193050616 0.01 0.01 NA 0.00579073 0.0139 NA 0.0115 0.0015 0.0051 0.02 NA 0.02 0.002 0.0271 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 -0.831628 NA NA 0.021864 0.003189 NA NA NA 4.2704694 1233 16 4516092 4516092 T C intronic NMRAL1 NA NA NA intronic ENSG00000153406 NA NA NA NA NA 16p13.3 NA NA Name=16 NA rs3747584 0.73 0.73 0.745 0.697284 0.7296 0.6319 0.7219 0.8109 0.5603 0.73 0.68 0.75 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 0.281715 NA NA NA NA NA 0.63 NA 4.2704 1233 7 5342413 5342413 T C intronic SLC29A4 NA NA NA intronic ENSG00000164638 NA NA NA NA NA 7p22.1 NA Name=CTCF NA NA rs11979775 0.28 0.28 0.277 0.280152 0.2813 0.0506 0.2205 0.6475 0.0613 0.25 0.08 0.23 0.61 0.2396 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.578614 NA NA 0.209613 0.531797 NA 0.406 NA 4.269487 1233 3 132063914 132063914 A T intronic ACPP NA NA NA intronic ENSG00000014257 NA NA NA NA NA 3q22.1 NA Name=p300,GATA-2,c-Fos Name=53 NA rs972774 0.41 0.41 0.39 0.436701 0.5885 0.2004 0.5043 0.3759 0.5583 0.58 0.16 0.52 0.37 0.5339 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.277337 NA NA 0.608256 0.419882 NA 0.362 NA 4.269344 1233 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 1233 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 1233 16 81193321 81193321 C T exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN NA NA 16q23.2 NA NA NA NA rs72628271 0.19 0.19 0.185 0.170927 0.2505 0.2262 0.147 0.0719 0.183 0.24 0.24 0.15 0.07 0.2373 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.645763 NA NA 0.24326 0.101362 NA 0.145 NA 4.26894 1233 6 35705892 35705892 T C exonic ARMC12 NA synonymous SNV ARMC12:NM_145028:exon2:c.T333C:p.Y111Y exonic ENSG00000157343 NA synonymous SNV ENSG00000157343:ENST00000288065:exon2:c.T333C:p.Y111Y,ENSG00000157343:ENST00000373866:exon2:c.T252C:p.Y84Y,ENSG00000157343:ENST00000373869:exon2:c.T252C:p.Y84Y Score=519;Name=lod=171 NA 6p21.31 NA NA NA NA rs2817041 0.76 0.76 0.732 0.759385 0.8002 0.5794 0.8473 0.8086 0.774 0.8 0.58 0.86 0.83 0.793 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 1.01693 NA NA 0.805 0.780527 NA 0.725 NA 4.2684666 1233 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 1233 19 9049339 9049339 C G exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon5:c.G32292C:p.T10764T exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon5:c.G32292C:p.T10764T NA NA 19p13.2 NA NA NA NA rs11883220 0.42 0.42 0.42 0.395767 0.4493 0.3621 0.5533 0.2973 0.3967 0.45 0.39 0.52 0.32 0.4596 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278 NA NA 0.489364 0.306443 NA 0.449 NA 4.2684026 1233 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 1233 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 1233 14 106054108 106054108 G A intergenic TMEM121,ELK2AP dist=57569;dist=81806 NA NA exonic ENSG00000211890 NA synonymous SNV ENSG00000211890:ENST00000390539:exon2:c.C411T:p.T137T NA NA 14q32.33 NA NA NA NA rs12105 0.04 0.04 0.042 0.0323482 0.0895 NA 0.0461 0.003 0.0368 0.08 NA 0.05 0.0041 0.0636 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 -0.565159 NA NA 0.079905 0.015544 NA 0.029 NA 4.266995 1233 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 1233 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 1233 1 158549420 158549420 C T exonic OR10X1 NA synonymous SNV OR10X1:NM_001004477:exon1:c.G270A:p.T90T exonic ENSG00000186400 NA synonymous SNV ENSG00000186400:ENST00000368150:exon1:c.G270A:p.T90T NA NA 1q23.1 NA NA NA NA rs863361 0.55 0.55 0.546 0.518371 0.4732 0.5853 0.4164 0.6324 0.4141 0.49 0.62 0.42 0.65 0.4816 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.378813 NA NA 0.445233 0.618702 NA 0.565 NA 4.2666336 1233 7 128141865 128141865 T C exonic METTL2B NA synonymous SNV METTL2B:NM_018396:exon9:c.T1032C:p.N344N exonic ENSG00000165055 NA synonymous SNV ENSG00000165055:ENST00000481392:exon4:c.T324C:p.N108N,ENSG00000165055:ENST00000480046:exon8:c.T837C:p.N279N,ENSG00000165055:ENST00000262432:exon9:c.T1032C:p.N344N Score=616;Name=lod=426 NA 7q32.1 NA NA NA NA rs1053124 0.74 0.74 0.715 0.78095 0.8161 0.7163 0.6859 0.7753 0.8865 0.81 0.68 0.71 0.72 0.7811 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 -0.413233 NA NA 0.802907 0.75488 ID=COSM1447894;OCCURENCE=1(large_intestine) 0.819 NA 4.2665596 1233 11 30255185 30255185 C T exonic FSHB NA synonymous SNV FSHB:NM_000510:exon3:c.C228T:p.Y76Y,FSHB:NM_001018080:exon3:c.C228T:p.Y76Y exonic ENSG00000131808 NA synonymous SNV ENSG00000131808:ENST00000533718:exon2:c.C228T:p.Y76Y,ENSG00000131808:ENST00000254122:exon3:c.C228T:p.Y76Y,ENSG00000131808:ENST00000417547:exon3:c.C228T:p.Y76Y NA NA 11p14.1 NA NA NA NA rs6169 0.6 0.6 0.607 0.614816 0.4503 0.6696 0.5317 0.7572 0.5941 0.46 0.69 0.53 0.74 0.5142 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338102 NA NA 0.435799 0.709355 NA 0.572 NA 4.2663676 1233 9 126439100 126439100 T G intronic DENND1A NA NA NA intronic ENSG00000119522 NA NA NA Score=284;Name=lod=19 NA 9q33.3 NA NA NA NA rs12377595 0.18 0.18 0.16 0.165136 0.2674 0.0982 0.219 0.1097 0.1656 0.26 0.09 0.24 0.12 0.2174 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.775662 4.775662 NA 0.24907 0.105538 ID=COSN168670;OCCURENCE=1(large_intestine) 0.188 NA 4.26613 1233 16 19725410 19725410 G A intronic KNOP1 NA NA NA ncRNA_intronic ENSG00000261312 NA NA NA NA NA 16p12.3 NA NA NA NA rs79810083 0.01 0.01 0.007 0.0157748 0.0219 0.001 0.0144 0.0008 0.046 0.02 NA 0.01 NA 0.0224 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 0.620098 NA NA 0.022966 0.004879 NA 0.022 NA 4.2660673 1233 6 36437849 36437849 G T UTR5 KCTD20 NM_173562:c.-26G>T NA NA UTR5 ENSG00000112078 ENST00000373731:c.-26G>T,ENST00000483557:c.-26G>T,ENST00000498267:c.-26G>T,ENST00000544295:c.-11570G>T,ENST00000481911:c.-26G>T,ENST00000449081:c.-26G>T,ENST00000536244:c.-9050G>T,ENST00000265344:c.-26G>T,ENST00000460983:c.-26G>T NA NA NA NA 6p21.31 NA NA NA NA rs41272162 0.02 0.02 0.008 0.00998403 0.0229 0.0069 0.0202 0.0023 0.0031 0.02 0.01 0.02 0.0041 0.0198 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 -0.178877 NA NA 0.024651 0.006128 NA 0.014 NA 4.2659824 1234 2 71797712 71797712 G A intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs3764971 0.24 0.24 0.243 0.260583 0.2435 0.4385 0.2522 0.0257 0.4182 0.23 0.45 0.28 0.01 0.2659 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.232978 NA NA 0.225983 0.065622 NA 0.225 CLINSIG=non-pathogenic;CLNDBN=not_specified,not_provided;CLNREVSTAT=single,single;CLNACC=RCV000080262.1,RCV000080263.1;CLNDSDB=.,.;CLNDSDBID=.,. 4.264617 1234 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 1234 7 47408029 47408029 A G exonic TNS3 NA synonymous SNV TNS3:NM_022748:exon17:c.T2214C:p.G738G exonic ENSG00000136205 NA synonymous SNV ENSG00000136205:ENST00000355730:exon14:c.T1494C:p.G498G,ENSG00000136205:ENST00000311160:exon17:c.T2214C:p.G738G,ENSG00000136205:ENST00000398879:exon17:c.T2214C:p.G738G,ENSG00000136205:ENST00000457718:exon17:c.T2523C:p.G841G NA NA 7p12.3 NA Name=ERalpha_a NA NA rs2255744 0.66 0.66 0.637 0.629593 0.833 0.4603 0.6859 0.5605 0.6483 0.83 0.45 0.74 0.59 0.7417 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 0.364845 NA NA 0.827487 0.615917 NA 0.681 NA 4.2644796 1234 9 117044751 117044751 T C exonic COL27A1 NA synonymous SNV COL27A1:NM_032888:exon39:c.T3786C:p.Y1262Y exonic ENSG00000196739 NA synonymous SNV ENSG00000196739:ENST00000356083:exon39:c.T3786C:p.Y1262Y Score=590;Name=lod=334 NA 9q32 NA NA NA NA rs2787330 0.83 0.83 0.825 0.854034 0.7753 1 0.8429 0.7519 0.9305 0.76 1 0.8 0.75 0.8311 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.941176 NA NA 0.795835 0.763302 NA 0.804 NA 4.2644316 1234 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 1234 11 18291321 18291321 T C exonic SAA1 NA synonymous SNV SAA1:NM_000331:exon4:c.T288C:p.A96A,SAA1:NM_199161:exon4:c.T288C:p.A96A,SAA1:NM_001178006:exon5:c.T288C:p.A96A exonic ENSG00000173432 NA synonymous SNV ENSG00000173432:ENST00000356524:exon4:c.T288C:p.A96A,ENSG00000173432:ENST00000405158:exon4:c.T288C:p.A96A,ENSG00000173432:ENST00000532858:exon5:c.T288C:p.A96A NA NA 11p15.1 NA NA NA NA rs12218 0.33 0.33 0.262 0.297524 0.4911 0.2748 0.4712 0.0303 0.3599 0.5 0.27 0.46 0.04 0.4135 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.128356 NA NA 0.497671 0.116189 ID=COSM147155;OCCURENCE=1(stomach) 0.167 NA 4.2643956 1234 3 195489067 195489067 C G exonic MUC4 NA synonymous SNV MUC4:NM_138297:exon12:c.G1542C:p.S514S,MUC4:NM_004532:exon13:c.G1695C:p.S565S,MUC4:NM_018406:exon14:c.G14403C:p.S4801S exonic ENSG00000145113 NA synonymous SNV ENSG00000145113:ENST00000349607:exon12:c.G1542C:p.S514S,ENSG00000145113:ENST00000346145:exon13:c.G1695C:p.S565S,ENSG00000145113:ENST00000475231:exon13:c.G14247C:p.S4749S,ENSG00000145113:ENST00000463781:exon14:c.G14403C:p.S4801S,ENSG00000145113:ENST00000478156:exon14:c.G14403C:p.S4801S NA NA 3q29 NA NA NA NA rs2246980 0.45 0.45 0.379 0.424321 0.4533 0.7599 0.415 0.1513 0.4243 0.46 0.72 0.39 0.16 0.4927 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.377951 NA NA 0.456334 0.210155 ID=COSM1421869,COSM1421868,COSM1421867;OCCURENCE=1(large_intestine) 0.333 NA 4.2643326 1234 3 56763316 56763316 G A exonic ARHGEF3 NA synonymous SNV ARHGEF3:NM_001128616:exon10:c.C1581T:p.H527H,ARHGEF3:NM_019555:exon10:c.C1563T:p.H521H,ARHGEF3:NM_001128615:exon13:c.C1659T:p.H553H exonic ENSG00000163947 NA synonymous SNV ENSG00000163947:ENST00000296315:exon10:c.C1563T:p.H521H,ENSG00000163947:ENST00000413728:exon10:c.C1581T:p.H527H,ENSG00000163947:ENST00000497267:exon10:c.C1476T:p.H492H,ENSG00000163947:ENST00000496106:exon11:c.C1581T:p.H527H,ENSG00000163947:ENST00000338458:exon13:c.C1659T:p.H553H NA NA 3p14.3 NA NA NA NA rs1565376 0.67 0.67 0.656 0.730232 0.4235 0.8542 0.6585 0.8805 0.7658 0.44 0.83 0.62 0.87 0.5597 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 -1.543076 NA NA 0.419302 0.822515 NA 0.587 NA 4.2641646 1234 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 1234 11 85576127 85576127 C T intronic CCDC83 NA NA NA intronic ENSG00000150676 NA NA NA NA NA 11q14.1 NA NA Name=3 NA rs36093844 0.22 0.22 0.196 0.207668 0.2565 0.0933 0.219 0.2769 0.1738 0.27 0.1 0.24 0.27 0.2415 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.476878 3.476878 NA 0.238311 0.253064 NA 0.217 NA 4.263689 1234 2 27435374 27435374 G A UTR5 ATRAID NM_016085:c.-746G>A NA NA UTR5 ENSG00000138074,ENSG00000138085 ENST00000428518:c.-4856C>T;ENST00000405489:c.-746G>A NA NA NA NA 2p23.3 NA Name=Pol2-4H8,NFKB,HMGN3,TAF1,HEY1,HA-E2F1,Pol2(phosphoS2),Pol2,YY1,TBP,Pol2(b),ZNF263,YY1_(C-20),ZBTB33 Name=109 NA rs11608 0.62 0.62 0.612 0.543331 0.7038 0.8502 0.5317 0.1657 0.5808 0.72 0.89 0.58 0.19 0.6539 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 1.456193 1.456193 NA 0.712143 0.303656 NA 0.37 NA 4.2634904 1234 17 47210429 47210429 A G exonic B4GALNT2 NA synonymous SNV B4GALNT2:NM_153446:exon1:c.A42G:p.E14E exonic ENSG00000167080 NA synonymous SNV ENSG00000167080:ENST00000300404:exon1:c.A42G:p.E14E NA NA 17q21.32 NA Name=HA-E2F1 NA NA rs7207842 0.71 0.71 0.685 0.742212 0.8002 0.5179 0.7824 0.7648 0.8548 0.78 0.47 0.87 0.77 0.7859 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 0.327303 NA NA 0.817167 0.781888 NA 0.681 NA 4.2633996 1234 19 18726856 18726856 T C exonic TMEM59L NA synonymous SNV TMEM59L:NM_012109:exon4:c.T480C:p.L160L exonic ENSG00000105696 NA synonymous SNV ENSG00000105696:ENST00000262817:exon4:c.T480C:p.L160L,ENSG00000105696:ENST00000600490:exon5:c.T480C:p.L160L NA NA 19p13.11 NA NA NA NA rs709679 0.54 0.54 0.54 0.509385 0.4732 0.6508 0.4914 0.4977 0.4294 0.49 0.63 0.49 0.52 0.4731 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.012119 NA NA 0.457442 0.511348 NA 0.377 NA 4.2629246 1234 10 70051928 70051928 A G exonic PBLD NA synonymous SNV PBLD:NM_001033083:exon5:c.T351C:p.D117D,PBLD:NM_022129:exon5:c.T351C:p.D117D exonic ENSG00000108187 NA synonymous SNV ENSG00000108187:ENST00000277795:exon3:c.T252C:p.D84D,ENSG00000108187:ENST00000336578:exon3:c.T252C:p.D84D,ENSG00000108187:ENST00000309049:exon5:c.T351C:p.D117D,ENSG00000108187:ENST00000358769:exon5:c.T351C:p.D117D,ENSG00000108187:ENST00000432941:exon5:c.T351C:p.D117D Score=378;Name=lod=46 NA 10q21.3 NA NA NA NA rs10823171 0.77 0.77 0.782 0.739018 0.8211 0.8591 0.7089 0.5923 0.7505 0.82 0.85 0.76 0.61 0.7714 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 -0.47099 NA NA 0.811279 0.627553 NA 0.746 NA 4.2628876 1234 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 1234 5 13900345 13900345 A G exonic DNAH5 NA synonymous SNV DNAH5:NM_001369:exon15:c.T2229C:p.D743D exonic ENSG00000039139 NA synonymous SNV ENSG00000039139:ENST00000265104:exon15:c.T2229C:p.D743D NA NA 5p15.2 NA NA NA NA rs1445823 0.62 0.62 0.636 0.601238 0.4493 0.8661 0.5159 0.6831 0.4346 0.47 0.87 0.51 0.66 0.5015 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 0.574172 NA NA 0.453953 0.655243 NA 0.514 NA 4.2619136 1234 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 1234 9 136390015 136390015 A G UTR5 TMEM8C NM_001080483:c.-49T>C NA NA UTR5 ENSG00000187616 ENST00000339996:c.-49T>C NA NA NA NA 9q34.2 NA NA Name=5 NA rs13300181 0.38 0.38 0.367 0.398562 0.3728 0.2857 0.2954 0.5802 0.3691 0.4 0.28 0.33 0.52 0.3536 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636515 NA NA 0.346673 0.495455 NA 0.341 NA 4.2602604 1234 10 85960395 85960395 A G exonic CDHR1 NA synonymous SNV CDHR1:NM_001171971:exon6:c.A477G:p.A159A,CDHR1:NM_033100:exon6:c.A477G:p.A159A exonic ENSG00000148600 NA synonymous SNV ENSG00000148600:ENST00000332904:exon6:c.A477G:p.A159A,ENSG00000148600:ENST00000372117:exon6:c.A477G:p.A159A NA NA 10q23.1 NA NA NA NA rs4933975 0.5 0.5 0.482 0.515974 0.4612 0.3948 0.5202 0.711 0.4305 0.46 0.37 0.51 0.71 0.4947 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726803 NA NA 0.45093 0.669315 NA 0.514 NA 4.2598366 1234 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 1234 14 105461067 105461067 C T exonic C14orf79 NA synonymous SNV C14orf79:NM_174891:exon5:c.C949T:p.L317L exonic ENSG00000140104 NA synonymous SNV ENSG00000140104:ENST00000549240:exon3:c.C223T:p.L75L,ENSG00000140104:ENST00000550614:exon4:c.C223T:p.L75L,ENSG00000140104:ENST00000547315:exon5:c.C949T:p.L317L NA NA 14q32.33 Score=866;Name=V$OCT1_06 NA NA NA rs894039 0.73 0.73 0.745 0.744808 0.8151 0.5655 0.7824 0.8306 0.7147 0.82 0.54 0.74 0.8 0.7831 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 -0.289964 NA NA 0.808891 0.821168 NA 0.797 NA 4.2595756 1234 3 48461313 48461313 C G exonic PLXNB1 NA synonymous SNV PLXNB1:NM_001130082:exon11:c.G2382C:p.P794P,PLXNB1:NM_002673:exon11:c.G2382C:p.P794P exonic ENSG00000164050 NA synonymous SNV ENSG00000164050:ENST00000296440:exon11:c.G2382C:p.P794P,ENSG00000164050:ENST00000358536:exon11:c.G2382C:p.P794P NA NA 3p21.31 NA NA NA NA rs2362450 0.43 0.43 0.457 0.432308 0.4652 0.3135 0.3357 0.6399 0.3088 0.45 0.29 0.34 0.61 0.4673 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.430029 NA NA 0.475431 0.621253 NA 0.486 NA 4.2587356 1234 1 23419261 23419261 G A exonic LUZP1 NA synonymous SNV LUZP1:NM_001142546:exon3:c.C1494T:p.S498S,LUZP1:NM_033631:exon4:c.C1494T:p.S498S exonic ENSG00000169641 NA synonymous SNV ENSG00000169641:ENST00000314174:exon2:c.C1494T:p.S498S,ENSG00000169641:ENST00000374623:exon2:c.C1494T:p.S498S,ENSG00000169641:ENST00000418342:exon3:c.C1494T:p.S498S,ENSG00000169641:ENST00000302291:exon4:c.C1494T:p.S498S NA NA 1p36.12 Score=758;Name=V$STAT1_01 NA NA NA rs477717 0.74 0.74 0.734 0.690495 0.828 0.8065 0.5937 0.643 0.5624 0.83 0.79 0.61 0.65 0.7529 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 -0.471737 NA NA 0.827907 0.656378 NA 0.79 NA 4.2578596 1234 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 1234 X 1546792 1546792 G A exonic ASMTL NA synonymous SNV ASMTL:NM_001173474:exon6:c.C684T:p.G228G,ASMTL:NM_001173473:exon7:c.C558T:p.G186G,ASMTL:NM_004192:exon7:c.C732T:p.G244G exonic ENSG00000169093 NA synonymous SNV ENSG00000169093:ENST00000381333:exon6:c.C684T:p.G228G,ENSG00000169093:ENST00000416733:exon6:c.C504T:p.G168G,ENSG00000169093:ENST00000381317:exon7:c.C732T:p.G244G,ENSG00000169093:ENST00000534940:exon7:c.C558T:p.G186G NA NA Xp22.33 NA NA NA NA rs5949099 0.67 0.67 0.68362 NA NA NA NA NA NA 0.72 0.82 0.73 0.39 0.7131 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 -0.090645 NA NA 0.695967 0.499506 NA 0.652 NA 4.2575996 1234 1 44072420 44072420 A G intronic PTPRF NA NA NA intronic ENSG00000142949 NA NA NA NA NA 1p34.2 NA Name=CTCF NA NA rs539096 0.75 0.75 0.748 0.723043 0.7425 0.7718 0.5807 0.8555 0.5746 0.76 0.75 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 0.965161 NA NA NA NA NA 0.804 NA 4.2575 1234 19 52469479 52469479 A G intronic ZNF350 NA NA NA ncRNA_intronic ENSG00000269235 NA NA NA NA NA 19q13.41 NA NA NA NA rs79579399 0.02 0.02 0.008 0.014377 0.0368 0.004 0.0216 0.0008 0.0153 0.03 0.0035 0.04 0.002 0.0226 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 -0.230317 NA NA 0.016584 0.002063 NA NA NA 4.2573493 1234 1 214814571 214814571 C T exonic CENPF NA synonymous SNV CENPF:NM_016343:exon12:c.C2890T:p.L964L exonic ENSG00000117724 NA synonymous SNV ENSG00000117724:ENST00000366955:exon12:c.C2890T:p.L964L NA NA 1q41 NA NA NA NA rs3795521 0.27 0.27 0.247 0.239018 0.499 0.122 0.317 0.0522 0.2894 0.49 0.11 0.36 0.07 0.3971 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.381849 NA NA 0.514339 0.116375 ID=COSM425278;OCCURENCE=2(breast) 0.333 NA 4.2562276 1234 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 1234 14 20502120 20502120 C T exonic OR4K13 NA synonymous SNV OR4K13:NM_001004714:exon1:c.G798A:p.S266S exonic ENSG00000176253 NA synonymous SNV ENSG00000176253:ENST00000315693:exon1:c.G798A:p.S266S NA NA 14q11.2 NA NA NA NA rs17277032 0.32 0.32 0.296 0.265974 0.507 0.255 0.3444 0.0877 0.2147 0.48 0.24 0.37 0.11 0.4053 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.749536 NA NA 0.498721 0.177485 NA 0.355 NA 4.2556456 1234 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 1235 X 1546876 1546876 A G exonic ASMTL NA synonymous SNV ASMTL:NM_001173474:exon6:c.T600C:p.R200R,ASMTL:NM_001173473:exon7:c.T474C:p.R158R,ASMTL:NM_004192:exon7:c.T648C:p.R216R exonic ENSG00000169093 NA synonymous SNV ENSG00000169093:ENST00000381333:exon6:c.T600C:p.R200R,ENSG00000169093:ENST00000416733:exon6:c.T420C:p.R140R,ENSG00000169093:ENST00000381317:exon7:c.T648C:p.R216R,ENSG00000169093:ENST00000534940:exon7:c.T474C:p.R158R NA NA Xp22.33 NA NA NA NA rs5948863 0.69 0.69 0.66773 NA NA NA NA NA NA 0.71 0.83 0.73 0.45 0.7168 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 -0.202148 NA NA 0.694897 0.535914 NA 0.688 NA 4.2549696 1235 21 26965148 26965148 G A exonic MRPL39 NA synonymous SNV MRPL39:NM_017446:exon8:c.C897T:p.G299G,MRPL39:NM_080794:exon8:c.C897T:p.G299G exonic ENSG00000154719 NA synonymous SNV ENSG00000154719:ENST00000307301:exon8:c.C897T:p.G299G,ENSG00000154719:ENST00000352957:exon8:c.C897T:p.G299G,ENSG00000154719:ENST00000419219:exon8:c.C867T:p.G289G Score=458;Name=lod=97 NA 21q21.3 NA NA NA NA rs1135638 0.76 0.76 0.753 0.732428 0.8121 0.7153 0.8199 0.7284 0.6115 0.8 0.71 0.8 0.72 0.7728 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 -0.129865 NA NA 0.82686 0.750567 NA 0.804 NA 4.2549066 1235 3 44935019 44935019 C T intronic TGM4 NA NA NA intronic ENSG00000163810 NA NA NA NA NA 3p21.31 NA Name=GR NA NA rs62242575 0.34 0.34 0.32 0.338458 0.2256 0.7887 0.2983 0.0083 0.4652 0.23 0.82 0.26 0.01 0.297 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 -0.780417 NA NA 0.222558 0.052202 NA 0.261 NA 4.254842 1235 21 26965205 26965205 T C exonic MRPL39 NA synonymous SNV MRPL39:NM_017446:exon8:c.A840G:p.V280V,MRPL39:NM_080794:exon8:c.A840G:p.V280V exonic ENSG00000154719 NA synonymous SNV ENSG00000154719:ENST00000307301:exon8:c.A840G:p.V280V,ENSG00000154719:ENST00000352957:exon8:c.A840G:p.V280V,ENSG00000154719:ENST00000419219:exon8:c.A810G:p.V270V Score=576;Name=lod=292 NA 21q21.3 NA NA NA NA rs1057885 0.76 0.76 0.744 0.732428 0.8121 0.7153 0.8199 0.7284 0.6115 0.8 0.71 0.8 0.72 0.7729 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 1.082381 NA NA 0.82686 0.750794 NA 0.812 NA 4.2548066 1235 7 73118033 73118033 G A intronic STX1A NA NA NA UTR3 ENSG00000071462 ENST00000423166:c.*619G>A,ENST00000436944:c.*929G>A NA NA NA NA 7q11.23 NA Name=TAF1 NA NA rs35459363 0.37 0.37 0.37 0.335463 0.4523 0.2976 0.2896 0.3245 0.3016 0.45 0.32 0.33 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 0.036557 NA NA 0.459659 0.33227 NA 0.362 NA 4.2547077 1235 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 1235 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 1235 19 17283303 17283303 T C intronic MYO9B NA NA NA intronic ENSG00000099331 NA NA NA NA Name=Height 19p13.11 NA NA NA NA rs2279008 0.26 0.26 0.237 0.232428 0.2545 0.3859 0.2622 0.1233 0.1779 0.25 0.39 0.27 0.13 0.2504 0.39 NA NA 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 0.241137 0.115256 NA 0.217 NA 4.253963 1235 4 75673363 75673363 G A intronic BTC NA NA NA intronic ENSG00000174808 NA NA NA Score=403;Name=lod=58 NA 4q13.3 NA NA NA NA rs4585380 0.18 0.18 0.188 0.201278 0.2555 0.0407 0.2017 0.2489 0.2464 0.24 0.02 0.23 0.24 0.2257 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434401 NA NA 0.264952 0.274875 NA 0.275 NA 4.253848 1235 20 48257149 48257149 C T exonic B4GALT5 NA synonymous SNV B4GALT5:NM_004776:exon6:c.G660A:p.E220E exonic ENSG00000158470 NA synonymous SNV ENSG00000158470:ENST00000371711:exon6:c.G660A:p.E220E Score=636;Name=lod=511 NA 20q13.13 NA NA NA NA rs421801 0.79 0.79 0.818 0.810104 0.8022 0.8284 0.7594 0.7927 0.8589 0.79 0.82 0.77 0.77 0.8044 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 0.715081 NA NA 0.806512 0.817522 NA 0.848 NA 4.2535546 1235 18 67345034 67345034 T C exonic DOK6 NA synonymous SNV DOK6:NM_152721:exon4:c.T354C:p.D118D exonic ENSG00000206052 NA synonymous SNV ENSG00000206052:ENST00000382713:exon4:c.T354C:p.D118D Score=481;Name=lod=120 NA 18q22.2 NA NA NA NA rs8099030 0.81 0.81 0.793 0.793131 0.8072 0.9573 0.8256 0.6248 0.8139 0.81 0.95 0.83 0.61 0.8033 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 1.550855 1.550855 NA 0.80314 0.688153 NA 0.797 NA 4.2530266 1235 15 66793677 66793677 G C intronic RPL4 NA NA NA intronic ENSG00000174444 NA NA NA NA NA 15q22.31 NA NA Name=2 NA rs12101954 0.18 0.18 0.156 0.175319 0.2555 0.131 0.2752 0.0703 0.2096 0.26 0.14 0.25 0.07 0.2308 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057265 NA NA 0.260758 0.110632 NA 0.123 NA 4.252942 1235 9 131247176 131247176 C T intronic ODF2 NA NA NA intronic ENSG00000136811 NA NA NA NA NA 9q34.11 NA Name=ZNF263 NA NA rs4075146 0.34 0.34 0.353 0.374002 0.2455 0.4782 0.2536 0.4697 0.3548 0.25 0.42 0.23 0.44 0.3006 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23738 NA NA 0.201744 0.459374 NA 0.355 NA 4.252156 1235 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 1235 22 36661536 36661536 C A exonic APOL1 NA synonymous SNV APOL1:NM_001136541:exon5:c.C600A:p.A200A,APOL1:NM_001136540:exon6:c.C654A:p.A218A,APOL1:NM_003661:exon6:c.C654A:p.A218A,APOL1:NM_145343:exon7:c.C702A:p.A234A exonic ENSG00000100342 NA synonymous SNV ENSG00000100342:ENST00000347595:exon3:c.C291A:p.A97A,ENSG00000100342:ENST00000426053:exon5:c.C600A:p.A200A,ENSG00000100342:ENST00000397278:exon6:c.C654A:p.A218A,ENSG00000100342:ENST00000397279:exon6:c.C654A:p.A218A,ENSG00000100342:ENST00000422706:exon6:c.C654A:p.A218A,ENSG00000100342:ENST00000319136:exon7:c.C702A:p.A234A NA NA 22q12.3 Score=797;Name=V$ER_Q6 NA NA NA rs136174 0.84 0.84 0.848 0.864217 0.7813 0.7976 0.8862 0.9781 0.8487 0.78 0.81 0.86 0.95 0.836 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 -0.055601 NA NA 0.797558 0.942805 NA 0.942 NA 4.2518086 1235 15 80259964 80259964 C T intronic BCL2A1 NA NA NA intronic ENSG00000140379 NA NA NA NA NA 15q25.1 NA NA Name=22 NA rs16971619 0.33 0.33 0.27 0.354433 0.2535 0.5288 0.2767 0.2753 0.4407 0.24 0.53 0.32 0.24 0.2975 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01469 NA NA 0.197236 0.232143 NA 0.304 NA 4.251764 1235 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 1235 14 38266074 38266074 C T intergenic FOXA1,SSTR1 dist=201749;dist=411130 NA NA exonic ENSG00000139865 NA synonymous SNV ENSG00000139865:ENST00000267368:exon3:c.C144T:p.D48D,ENSG00000139865:ENST00000382320:exon3:c.C93T:p.D31D,ENSG00000139865:ENST00000478811:exon3:c.C144T:p.D48D,ENSG00000139865:ENST00000476979:exon4:c.C144T:p.D48D,ENSG00000139865:ENST00000553443:exon20:c.C3951T:p.D1317D NA NA 14q21.1 NA Name=FOXA1_(C-20) NA NA rs9805910 0.28 0.28 0.256 0.247204 0.4264 0.2996 0.2795 0.0151 0.2996 0.41 0.32 0.29 0.02 0.3713 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356345 NA NA 0.451047 0.094871 ID=COSM147766;OCCURENCE=1(stomach) 0.116 NA 4.251253 1235 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 1235 16 57996932 57996932 G A exonic CNGB1 NA synonymous SNV CNGB1:NM_001135639:exon5:c.C327T:p.G109G,CNGB1:NM_001297:exon5:c.C327T:p.G109G exonic ENSG00000070729 NA synonymous SNV ENSG00000070729:ENST00000562761:exon4:c.C327T:p.G109G,ENSG00000070729:ENST00000251102:exon5:c.C327T:p.G109G,ENSG00000070729:ENST00000311183:exon5:c.C327T:p.G109G,ENSG00000070729:ENST00000564448:exon5:c.C327T:p.G109G NA NA 16q21 NA NA NA NA rs17821448 0.33 0.33 0.302 0.314097 0.497 0.3403 0.304 0.0552 0.456 0.5 0.34 0.36 0.05 0.4304 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.37843 NA NA 0.489321 0.117689 NA 0.42 NA 4.2499456 1235 19 54697079 54697079 C T exonic TSEN34 NA synonymous SNV TSEN34:NM_001077446:exon4:c.C795T:p.P265P,TSEN34:NM_024075:exon5:c.C795T:p.P265P exonic ENSG00000170892 NA synonymous SNV ENSG00000170892:ENST00000396388:exon4:c.C795T:p.P265P,ENSG00000170892:ENST00000302937:exon5:c.C795T:p.P265P,ENSG00000170892:ENST00000396383:exon5:c.C795T:p.P265P,ENSG00000170892:ENST00000429671:exon5:c.C795T:p.P265P NA Name=Obesity-related traits 19q13.42 NA NA NA NA rs7595 0.74 0.74 0.73 0.748203 0.827 0.4802 0.6902 0.8563 0.8384 0.84 0.53 0.71 0.84 0.7722 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 -0.015283 NA NA 0.817572 0.845965 NA 0.783 NA 4.2498946 1235 22 51043278 51043278 G A exonic MAPK8IP2 NA unknown UNKNOWN exonic ENSG00000008735 NA synonymous SNV ENSG00000008735:ENST00000008876:exon3:c.G666A:p.E222E,ENSG00000008735:ENST00000399908:exon3:c.G753A:p.E251E,ENSG00000008735:ENST00000341339:exon4:c.G411A:p.E137E,ENSG00000008735:ENST00000399912:exon5:c.G753A:p.E251E,ENSG00000008735:ENST00000329492:exon6:c.G1548A:p.E516E Score=573;Name=lod=284 NA 22q13.33 NA NA NA NA rs3219201 0.65 0.65 0.647 0.638578 0.6879 0.8492 0.7291 0.3185 0.7393 0.69 0.85 0.69 0.33 0.7264 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 0.999818 NA NA 0.669305 0.393946 NA 0.696 NA 4.2497283 1235 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 1235 12 123466111 123466111 C T intronic ARL6IP4 NA NA NA ncRNA_exonic ENSG00000256028 NA NA NA Score=381;Name=lod=47 NA 12q24.31 NA NA Name=29 NA rs55742290 0.53 0.53 0.477 0.48143 0.6918 0.6438 0.6052 0.0598 0.5798 0.71 0.62 0.63 0.08 0.6812 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.100688 NA 0.03 0.711243 0.171526 NA 0.471 NA 4.2490903 1235 21 45217559 45217559 T C exonic RRP1 NA synonymous SNV RRP1:NM_003683:exon7:c.T600C:p.I200I exonic ENSG00000160214 NA synonymous SNV ENSG00000160214:ENST00000497547:exon7:c.T600C:p.I200I NA NA 21q22.3 NA NA NA NA rs2838378 0.64 0.64 0.643 0.703474 0.4115 0.7917 0.7003 0.8275 0.7474 0.42 0.8 0.65 0.8 0.5647 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 -1.140721 NA NA 0.44239 0.818355 ID=COSM149239;OCCURENCE=1(stomach) 0.71 NA 4.2480766 1235 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 1235 20 62195087 62195087 A G exonic HELZ2 NA synonymous SNV HELZ2:NM_033405:exon3:c.T3381C:p.S1127S,HELZ2:NM_001037335:exon9:c.T5088C:p.S1696S exonic ENSG00000130589 NA synonymous SNV ENSG00000130589:ENST00000427522:exon3:c.T3381C:p.S1127S,ENSG00000130589:ENST00000467148:exon8:c.T5088C:p.S1696S NA NA 20q13.33 NA NA NA NA rs310630 0.43 0.43 0.419 0.452077 0.4732 0.1567 0.4409 0.7141 0.3885 0.46 0.17 0.4 0.69 0.4846 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 -1.276419 NA NA 0.462167 0.666514 ID=COSM444225;OCCURENCE=3(breast) 0.37 NA 4.2466996 1235 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 1235 1 62675619 62675619 C T exonic L1TD1 NA synonymous SNV L1TD1:NM_019079:exon4:c.C1173T:p.A391A,L1TD1:NM_001164835:exon5:c.C1173T:p.A391A exonic ENSG00000240563 NA synonymous SNV ENSG00000240563:ENST00000498273:exon4:c.C1173T:p.A391A NA NA 1p31.3 NA NA NA NA rs4625314 0.32 0.32 0.308 0.298522 0.492 0.1091 0.3473 0.2769 0.2894 0.48 0.12 0.36 0.27 0.4167 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.105716 NA NA 0.512328 0.33704 ID=COSM146532;OCCURENCE=1(stomach) 0.377 NA 4.2456386 1235 1 246707816 246707816 T C intronic TFB2M NA NA NA intronic ENSG00000162851 NA NA NA NA NA 1q44 Score=784;Name=V$STAT1_01 NA NA NA rs3124119 0.18 0.18 0.15 0.153155 0.2803 0.003 0.219 0.1732 0.1033 0.28 0.0017 0.26 0.17 0.2065 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.426092 NA NA 0.267674 0.186337 NA 0.123 NA 4.245526 1235 1 3645835 3645835 C A intronic TP73 NA NA NA intronic ENSG00000078900 NA NA NA NA NA 1p36.32 NA Name=E2F6_(H-50) NA NA rs2254530 0.46 0.46 0.415 0.398163 0.7545 0.2649 0.5807 0.115 0.4223 0.76 0.26 0.6 0.13 NA 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.334575 NA NA NA NA NA 0.362 NA 4.2455 1235 10 85993910 85993910 G A exonic LRIT1 NA synonymous SNV LRIT1:NM_015613:exon3:c.C814T:p.L272L exonic ENSG00000148602 NA synonymous SNV ENSG00000148602:ENST00000372105:exon3:c.C814T:p.L272L NA NA 10q23.1 NA NA NA NA rs3814206 0.55 0.55 0.568 0.572484 0.4722 0.4058 0.5418 0.8941 0.4346 0.48 0.37 0.51 0.88 0.4982 0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.349124 NA NA 0.450814 0.813663 NA 0.616 NA 4.2454526 1235 7 21641218 21641218 G A exonic DNAH11 NA synonymous SNV DNAH11:NM_001277115:exon18:c.G3630A:p.Q1210Q exonic ENSG00000105877 NA synonymous SNV ENSG00000105877:ENST00000328843:exon18:c.G3630A:p.Q1210Q,ENSG00000105877:ENST00000409508:exon18:c.G3630A:p.Q1210Q NA NA 7p15.3 Score=940;Name=V$P53_02 NA NA NA rs3827657 0.76 0.76 0.738 0.753794 0.8111 0.7827 0.6916 0.7549 0.7076 0.82 0.74 0.72 0.73 0.7847 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 0.130541 NA NA 0.825443 0.746695 NA 0.833 NA 4.2454236 1236 6 33653448 33653448 C T exonic ITPR3 NA synonymous SNV ITPR3:NM_002224:exon41:c.C5511T:p.G1837G exonic ENSG00000096433 NA synonymous SNV ENSG00000096433:ENST00000605930:exon41:c.C5511T:p.G1837G,ENSG00000096433:ENST00000374316:exon42:c.C5511T:p.G1837G NA NA 6p21.31 NA NA NA NA rs749338 0.5 0.5 0.457 0.510383 0.4632 0.8621 0.5692 0.0998 0.7096 0.47 0.84 0.57 0.11 0.5244 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 -0.867491 NA NA 0.434302 0.186337 NA 0.457 NA 4.2447646 1236 X 45050973 45050973 C T intronic CXorf36 NA NA NA ncRNA_intronic ENSG00000229491 NA NA NA NA NA Xp11.3 NA Name=BATF NA NA rs4239958 0.64 0.64 0.63593 NA NA NA NA NA NA 0.5 0.82 0.62 0.67 0.6015 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 0.202828 NA NA 0.487206 0.67249 NA 0.42 NA 4.2446273 1236 5 96235896 96235896 A G intronic ERAP2 NA NA NA exonic ENSG00000164308 NA synonymous SNV ENSG00000164308:ENST00000513084:exon10:c.A1575G:p.V525V Score=243;Name=lod=13 NA 5q15 NA NA NA NA rs2248374 0.55 0.55 0.523 0.552716 0.5199 0.5278 0.5793 0.6014 0.5276 0.52 0.58 0.59 0.55 0.5476 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.858421 NA NA 0.521395 0.579891 NA 0.659 NA 4.2444383 1236 21 26969703 26969703 T C exonic MRPL39 NA synonymous SNV MRPL39:NM_017446:exon6:c.A612G:p.K204K,MRPL39:NM_080794:exon6:c.A612G:p.K204K exonic ENSG00000154719 NA synonymous SNV ENSG00000154719:ENST00000307301:exon6:c.A612G:p.K204K,ENSG00000154719:ENST00000352957:exon6:c.A612G:p.K204K,ENSG00000154719:ENST00000419219:exon6:c.A582G:p.K194K Score=449;Name=lod=89 NA 21q21.3 NA NA NA NA rs1135618 0.76 0.76 0.747 0.732827 0.8141 0.7153 0.8199 0.7284 0.6115 0.81 0.71 0.8 0.72 0.7817 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 -0.617521 NA NA 0.828372 0.751818 NA 0.804 NA 4.2424946 1236 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 1236 3 13367406 13367406 C T exonic NUP210 NA synonymous SNV NUP210:NM_024923:exon33:c.G4533A:p.S1511S exonic ENSG00000132182 NA synonymous SNV ENSG00000132182:ENST00000254508:exon33:c.G4533A:p.S1511S NA NA 3p25.1 NA NA NA NA rs665064 0.48 0.48 0.421 0.479633 0.4771 0.6696 0.5764 0.18 0.6227 0.49 0.64 0.56 0.21 0.4928 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.671895 NA NA 0.455233 0.245574 NA 0.326 NA 4.2415336 1236 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 1236 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 1236 12 54905815 54905815 C G exonic NCKAP1L NA synonymous SNV NCKAP1L:NM_001184976:exon9:c.C717G:p.L239L,NCKAP1L:NM_005337:exon9:c.C867G:p.L289L exonic ENSG00000123338 NA synonymous SNV ENSG00000123338:ENST00000293373:exon9:c.C867G:p.L289L,ENSG00000123338:ENST00000545638:exon9:c.C717G:p.L239L,ENSG00000123338:ENST00000548221:exon9:c.C867G:p.L289L Score=589;Name=lod=329 NA 12q13.2 NA NA NA NA rs2458409 0.81 0.81 0.817 0.81869 0.8121 0.9494 0.7853 0.7284 0.8364 0.81 0.95 0.78 0.67 0.8169 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 0.767709 NA NA 0.797326 0.733545 NA 0.775 NA 4.2403406 1236 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 1236 6 26545632 26545632 G A exonic HMGN4 NA synonymous SNV HMGN4:NM_006353:exon2:c.G198A:p.G66G exonic ENSG00000182952 NA synonymous SNV ENSG00000182952:ENST00000377575:exon2:c.G198A:p.G66G NA NA 6p22.2 NA NA NA NA rs4871 0.55 0.55 0.525 0.569688 0.4423 0.746 0.5879 0.5166 0.5777 0.46 0.72 0.57 0.47 0.5148 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.188113 NA NA 0.469884 0.520881 NA 0.377 NA 4.2396826 1236 1 43637549 43637549 A G intronic EBNA1BP2 NA NA NA intronic ENSG00000117395 NA NA NA NA NA 1p34.2 NA Name=Pol2 NA NA rs1691289 0.17 0.17 0.16 0.147764 0.2893 0.0248 0.1513 0.1316 0.1483 0.31 0.02 0.19 0.13 0.2132 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.137171 NA NA 0.257907 0.11961 NA 0.304 NA 4.239593 1236 5 1081702 1081702 A G exonic SLC12A7 NA synonymous SNV SLC12A7:NM_006598:exon9:c.T1287C:p.P429P exonic ENSG00000113504 NA synonymous SNV ENSG00000113504:ENST00000264930:exon9:c.T1287C:p.P429P NA NA 5p15.33 NA NA NA NA rs6865765 0.43 0.43 0.402 0.422324 0.4791 0.3601 0.3184 0.4834 0.4192 0.49 0.35 0.36 0.49 0.4624 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.639077 NA NA 0.485581 0.496367 NA 0.435 NA 4.2395856 1236 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 1236 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 1236 1 36316571 36316571 A C exonic AGO4 NA synonymous SNV AGO4:NM_017629:exon17:c.A2394C:p.S798S exonic ENSG00000134698 NA synonymous SNV ENSG00000134698:ENST00000373210:exon17:c.A2394C:p.S798S NA NA 1p34.3 Score=852;Name=V$AHRARNT_01 NA NA NA rs4652895 0.48 0.48 0.446 0.491014 0.8539 0.253 0.5375 0.1407 0.8037 0.85 0.21 0.57 0.15 0.7157 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 0.826612 NA NA 0.859302 0.263504 NA 0.58 NA 4.2377646 1236 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 1236 7 27141657 27141657 C G intronic HOXA2 NA NA NA intronic ENSG00000105996 NA NA NA Score=389;Name=lod=51 NA 7p15.2 NA NA NA NA rs2428431 0.2 0.2 0.119 0.184105 0.3499 0.12 0.2896 0.0166 0.2311 0.35 0.1 0.29 0.02 0.4124 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.805691 NA NA NA NA NA 0.239 NA 4.2377 1236 15 40322552 40322552 G T intronic EIF2AK4 NA NA NA intronic ENSG00000128829 NA NA NA NA Name=Corneal curvature 15q15.1 NA Name=CTCF,CTCF_(C-20),Rad21,SMC3_(ab9263) Name=69 NA rs2250402 0.89 0.89 0.897 0.905551 0.9254 0.8105 0.9452 0.9395 0.909 0.92 0.8 0.94 0.93 0.9144 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 0.475874 NA NA 0.922742 0.946521 NA 0.942 NA 4.237458 1236 10 79793688 79793688 C T intronic RPS24 NA NA NA intronic ENSG00000138326 NA NA NA NA NA 10q22.3 NA Name=c-Myc,Oct-2,SP1,Max,YY1_(C-20),NRSF,Mxi1_(bHLH),GATA3_(SC-268),Sin3Ak-20,eGFP-JunD,YY1,PAX5-N19,Pol2(b),TBP,CCNT2,SMC3_(ab9263),ZNF263,GTF2F1_(RAP-74),CHD2_(N-1250),GATA-2,Pol2,Pol2(phosphoS2),POU2F2,E2F6,GTF2B,TCF12,Ini1,TAF7_(SQ-8),eGFP-JunB,Pol2-4H8,HMGN3,ZEB1_(SC-25388),TAF1,NFKB,BCLAF1_(M33-P5B11),HEY1,ELF1_(SC-631),STAT1,NELFe,ETS1 Name=148 NA rs3740253 0.48 0.48 0.435 0.458666 0.5944 0.4345 0.598 0.2526 0.5235 0.6 0.44 0.55 0.26 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 1.401084 1.401084 NA 0.601163 0.305266 NA 0.5 NA 4.237337 1236 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 1236 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 1236 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 1236 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 1236 7 53103946 53103946 G C exonic POM121L12 NA synonymous SNV POM121L12:NM_182595:exon1:c.G582C:p.G194G exonic ENSG00000221900 NA synonymous SNV ENSG00000221900:ENST00000408890:exon1:c.G582C:p.G194G NA NA 7p12.1 NA NA NA NA rs12113170 0.37 0.37 0.337 0.328874 0.4871 0.3026 0.4308 0.1725 0.3323 0.49 0.31 0.43 0.2 0.438 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.256618 NA NA 0.505796 0.203347 NA 0.399 NA 4.2357706 1236 5 35036997 35036997 C T intronic AGXT2 NA NA NA intronic ENSG00000113492 NA NA NA NA NA 5p13.2 NA Name=GATA-2 NA NA rs37368 0.23 0.23 0.222 0.241613 0.2475 0.2371 0.2003 0.1997 0.3262 0.25 0.24 0.18 0.23 0.2484 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.791462 NA NA 0.268953 0.223332 NA 0.217 NA 4.235147 1236 13 25825889 25825889 T C exonic MTMR6 NA synonymous SNV MTMR6:NM_004685:exon13:c.A1503G:p.Q501Q exonic ENSG00000139505 NA synonymous SNV ENSG00000139505:ENST00000381801:exon13:c.A1503G:p.Q501Q,ENSG00000139505:ENST00000540661:exon13:c.A1503G:p.Q501Q Score=578;Name=lod=299 NA 13q12.13 NA NA NA NA rs4312169 0.63 0.63 0.597 0.598442 0.838 0.7024 0.5865 0.2882 0.6728 0.84 0.69 0.6 0.27 0.7476 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 0.71496 NA NA 0.84602 0.354839 ID=COSM147649;OCCURENCE=1(stomach) 0.703 NA 4.2350466 1237 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 1237 2 48808594 48808594 C T exonic STON1,STON1-GTF2A1L NA synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.C822T:p.S274S,STON1-GTF2A1L:NM_001198593:exon2:c.C822T:p.S274S,STON1:NM_006873:exon2:c.C822T:p.S274S,STON1-GTF2A1L:NM_172311:exon2:c.C822T:p.S274S,STON1:NM_001198595:exon3:c.C822T:p.S274S exonic ENSG00000068781,ENSG00000243244 NA synonymous SNV ENSG00000068781:ENST00000309827:exon1:c.C822T:p.S274S,ENSG00000243244:ENST00000309835:exon1:c.C822T:p.S274S,ENSG00000068781:ENST00000394751:exon1:c.C822T:p.S274S,ENSG00000068781:ENST00000394754:exon2:c.C822T:p.S274S,ENSG00000068781:ENST00000402114:exon2:c.C822T:p.S274S,ENSG00000243244:ENST00000404752:exon2:c.C822T:p.S274S,ENSG00000068781:ENST00000405008:exon2:c.C822T:p.S274S,ENSG00000243244:ENST00000406226:exon3:c.C822T:p.S274S NA NA 2p16.3 NA NA NA NA rs3749142 0.41 0.41 0.444 0.395168 0.4702 0.3879 0.4107 0.292 0.454 0.49 0.42 0.39 0.3 0.4667 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.905855 NA NA 0.495116 0.337948 NA 0.478 NA 4.2346506 1237 17 79609410 79609410 G T UTR5 TSPAN10 NM_031945:c.-29G>T NA NA UTR5 ENSG00000182612 ENST00000328585:c.-29G>T NA NA NA NA 17q25.3 NA Name=AP-2gamma NA NA rs7406219 0.53 0.53 0.497 0.584465 0.2853 0.7798 0.6023 0.6415 0.6012 0.3 0.79 0.54 0.6 0.4684 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 0.393629 NA NA 0.345131 0.575182 NA 0.5 NA 4.2345024 1237 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 1237 1 31188901 31188901 A G exonic MATN1 NA synonymous SNV MATN1:NM_002379:exon5:c.T1062C:p.T354T exonic ENSG00000162510 NA synonymous SNV ENSG00000162510:ENST00000373765:exon5:c.T1062C:p.T354T NA NA 1p35.2 NA NA NA NA rs20566 0.61 0.61 0.608 0.604233 0.4682 0.6052 0.6787 0.8411 0.3701 0.47 0.6 0.65 0.81 0.5111 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 -0.580888 NA NA 0.453372 0.772583 NA 0.551 NA 4.2339946 1237 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 1237 22 19048449 19048449 G A intronic DGCR2 NA NA NA exonic ENSG00000070413 NA synonymous SNV ENSG00000070413:ENST00000545799:exon6:c.C636T:p.T212T NA NA 22q11.21 NA NA NA NA rs2238740 0.16 0.16 0.165 0.181909 0.1829 0.126 0.1513 0.1725 0.273 0.19 0.13 0.17 0.15 0.215 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.526732 NA NA 0.201657 0.1621 NA 0.167 NA 4.2337763 1237 15 59784493 59784493 C T exonic FAM81A NA synonymous SNV FAM81A:NM_152450:exon4:c.C318T:p.A106A exonic ENSG00000157470 NA synonymous SNV ENSG00000157470:ENST00000288228:exon4:c.C318T:p.A106A,ENSG00000157470:ENST00000560074:exon4:c.C318T:p.A106A,ENSG00000157470:ENST00000560087:exon4:c.C345T:p.A115A,ENSG00000157470:ENST00000560474:exon4:c.C345T:p.A115A,ENSG00000157470:ENST00000561361:exon4:c.C318T:p.A106A,ENSG00000157470:ENST00000558348:exon5:c.C318T:p.A106A,ENSG00000157470:ENST00000560394:exon5:c.C318T:p.A106A Score=542;Name=lod=212 NA 15q22.2 NA NA NA NA rs4296198 0.8 0.8 0.772 0.779553 0.8191 0.8185 0.9006 0.6437 0.7965 0.81 0.81 0.87 0.7 0.8097 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 1.315806 1.315806 NA 0.804252 0.676518 NA 0.79 NA 4.2336146 1237 2 103343234 103343234 G C intronic MFSD9 NA NA NA intronic ENSG00000135953 NA NA NA NA NA 2q12.1 NA Name=PU.1 NA NA rs3796061 0.78 0.78 0.78 0.767572 0.7664 0.7808 0.8213 0.7413 0.7526 0.76 0.79 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 -0.794822 NA NA NA NA NA 0.667 NA 4.2336 1237 10 65225244 65225244 G C ncRNA_exonic JMJD1C-AS1 NA NA NA intronic ENSG00000171988 NA NA NA NA NA 10q21.3 NA Name=CTCF,Pol2,HA-E2F1,CHD2_(N-1250),E2F1,CTCF_(C-20),TAF1,CTCFL_(SC-98982) Name=144 NA rs1061259 0.57 0.57 0.283 0.588259 0.7952 0.7024 0.536 0.2927 0.6943 0.73 0.61 0.59 0.27 0.7422 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 1.450433 1.450433 NA 0.562972 0.181586 NA NA NA 4.2329613 1237 8 29197672 29197672 A G exonic DUSP4 NA synonymous SNV DUSP4:NM_001394:exon2:c.T522C:p.S174S,DUSP4:NM_057158:exon3:c.T249C:p.S83S exonic ENSG00000120875 NA synonymous SNV ENSG00000120875:ENST00000240100:exon2:c.T522C:p.S174S,ENSG00000120875:ENST00000240101:exon3:c.T249C:p.S83S NA NA 8p12 NA NA NA NA rs583034 0.6 0.6 0.579 0.622404 0.4533 0.6617 0.6455 0.8147 0.4796 0.46 0.63 0.59 0.78 0.5589 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 -0.16347 NA NA 0.422889 0.750681 NA 0.493 NA 4.2315776 1237 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 1237 12 54797393 54797393 G A intronic ITGA5 NA NA NA ncRNA_intronic ENSG00000258086,ENSG00000258137 NA NA NA NA NA 12q13.13 NA NA NA NA rs12818138 0.02 0.02 0.018 0.0155751 0.0417 NA 0.0317 0.0061 0.0061 0.04 NA 0.04 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 -0.043384 NA NA 0.035 0.006582 NA NA NA 4.2309333 1237 4 121966807 121966807 C T exonic NDNF NA synonymous SNV NDNF:NM_024574:exon2:c.G186A:p.K62K exonic ENSG00000173376 NA synonymous SNV ENSG00000173376:ENST00000379692:exon2:c.G186A:p.K62K,ENSG00000173376:ENST00000511408:exon2:c.G186A:p.K62K,ENSG00000173376:ENST00000515757:exon2:c.G186A:p.K62K Score=582;Name=lod=309 NA 4q27 NA NA NA NA rs2276959 0.69 0.69 0.619 0.657748 0.8151 0.881 0.8084 0.2012 0.7761 0.83 0.86 0.8 0.18 0.7904 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 1.571299 1.571299 NA 0.830552 0.309813 NA 0.616 NA 4.2306146 1237 5 138775173 138775173 T C UTR5 DNAJC18 NM_152686:c.-39A>G NA NA UTR5 ENSG00000170464 ENST00000302060:c.-39A>G,ENST00000505568:c.-39A>G,ENST00000515581:c.-39A>G,ENST00000515277:c.-39A>G,ENST00000512473:c.-39A>G NA NA NA NA 5q31.2 NA Name=YY1_(C-20),PAX5-C20,ERalpha_a,SIX5,ZBTB7A_(SC-34508),YY1,AP-2alpha,TBP,Egr-1,AP-2gamma,JunD,GATA-2,Pol2,TAF7_(SQ-8),Znf143_(16618-1-AP),HMGN3,TAF1,ETS1,KAP1,ELF1_(SC-631) Name=147 NA rs3923059 0.61 0.61 0.551 0.591254 0.7058 0.3909 0.7032 0.6384 0.5368 0.71 0.38 0.72 0.65 0.675 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.372888 NA NA 0.722339 0.652045 NA 0.319 NA 4.2301944 1237 19 10157806 10157806 C T ncRNA_exonic C3P1 NA NA NA ncRNA_exonic ENSG00000167798 NA NA NA NA NA 19p13.2 NA NA NA NA rs73009214 0.08 0.08 0.068 0.0509185 0.1521 NA 0.0706 0.0227 0.0235 0.16 NA 0.1 0.03 0.1186 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879549 NA 0 0.165914 0.033494 NA 0.08 NA 4.2300526 1237 7 5254061 5254061 G A UTR5 WIPI2 NM_001033520:c.-71G>A NA NA UTR5 ENSG00000157954 ENST00000484262:c.-71G>A NA NA NA NA 7p22.1 NA NA NA NA rs28393199 0.02 0.02 0.016 0.0235623 0.0308 NA 0.0303 0.0401 0.0133 0.02 NA 0.03 0.03 0.0283 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 -0.630561 NA NA 0.044199 0.044521 NA 0.08 NA 4.2300344 1237 17 6733672 6733672 T C exonic TEKT1 NA synonymous SNV TEKT1:NM_053285:exon2:c.A24G:p.P8P exonic ENSG00000167858 NA synonymous SNV ENSG00000167858:ENST00000338694:exon2:c.A24G:p.P8P,ENSG00000167858:ENST00000575592:exon2:c.A24G:p.P8P NA NA 17p13.1 NA NA NA NA rs8078571 0.58 0.58 0.589 0.604832 0.4632 0.5615 0.4323 0.9047 0.5123 0.46 0.54 0.46 0.89 0.5065 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 0.058334 NA NA 0.467558 0.820926 ID=COSM148167;OCCURENCE=1(stomach) 0.601 NA 4.2294086 1237 6 32155581 32155581 A G intronic PBX2 NA NA NA intronic ENSG00000204304 NA NA NA NA Name=Asthma 6p21.32 NA NA NA NA rs204993 0.29 0.29 0.297 0.301717 0.2465 0.3948 0.1844 0.3154 0.3272 0.25 0.41 0.18 0.28 0.2501 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.49734 NA NA 0.274086 0.28827 NA 0.333 NA 4.229314 1237 16 57710093 57710093 C G intronic GPR97 NA NA NA intronic ENSG00000182885 NA NA NA NA NA 16q21 NA Name=Pol2,SP1,TAL1_(SC-12984),NANOG_(SC-33759),TBP,JunD,BAF155,GTF2F1_(RAP-74) 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 1237 21 45544594 45544594 T C exonic PWP2 NA synonymous SNV PWP2:NM_005049:exon15:c.T1951C:p.L651L exonic ENSG00000241945 NA synonymous SNV ENSG00000241945:ENST00000291576:exon15:c.T1951C:p.L651L Score=601;Name=lod=368 NA 21q22.3 NA NA NA NA rs2187313 0.78 0.78 0.755 0.743411 0.835 0.8085 0.7954 0.6316 0.6963 0.83 0.81 0.77 0.66 0.7858 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 1.136125 NA NA 0.817326 0.646618 NA 0.826 NA 4.2285406 1237 7 120704289 120704289 C T intronic CPED1 NA NA NA intronic ENSG00000106034 NA NA NA Score=346;Name=lod=34 NA 7q31.31 Score=751;Name=V$STAT5A_02 NA Name=6 NA rs2721375 0.95 0.95 0.942 0.911941 0.9254 0.9633 0.9524 0.9297 0.7924 0.92 0.96 0.97 0.95 0.9139 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 0.350572 NA NA 0.932791 0.937812 NA 0.978 NA 4.227909 1237 11 117095361 117095361 C T intronic PCSK7 NA NA NA intronic ENSG00000160613 NA NA NA NA NA 11q23.3 NA Name=GATA-1,Pol2,eGFP-GATA2 NA NA rs236919 0.59 0.59 0.617 0.665136 0.3907 0.6756 0.5706 0.8722 0.7239 0.38 0.7 0.5 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 0.282767 NA NA 0.381835 0.787572 NA 0.514 NA 4.227465 1237 14 33046388 33046388 A G exonic AKAP6 NA synonymous SNV AKAP6:NM_004274:exon5:c.A2409G:p.E803E exonic ENSG00000151320 NA synonymous SNV ENSG00000151320:ENST00000280979:exon5:c.A2409G:p.E803E,ENSG00000151320:ENST00000557272:exon5:c.A2409G:p.E803E,ENSG00000151320:ENST00000557354:exon5:c.A2409G:p.E803E Score=609;Name=lod=397 NA 14q12 NA NA NA NA rs1950703 0.86 0.86 0.878 0.866414 0.7932 0.997 0.8617 0.8147 0.8804 0.79 1 0.84 0.83 0.8353 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032804 NA NA 0.81093 0.810032 NA 0.717 NA 4.2272366 1237 2 219920037 219920037 A G exonic IHH NA synonymous SNV IHH:NM_002181:exon3:c.T1128C:p.T376T exonic ENSG00000163501 NA synonymous SNV ENSG00000163501:ENST00000295731:exon3:c.T1128C:p.T376T NA NA 2q35 Score=897;Name=V$E47_01 NA NA NA rs394452 0.88 0.88 0.87 0.886182 0.8072 0.9157 0.8501 0.9879 0.8252 0.82 0.9 0.84 0.96 0.8358 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 -1.068823 NA NA 0.796744 0.958239 ID=COSM442333;OCCURENCE=1(breast) 0.899 NA 4.2269226 1237 19 35551428 35551428 C A ncRNA_intronic HPN-AS1 NA NA NA ncRNA_intronic ENSG00000227392 NA NA NA NA NA 19q13.12 NA NA NA NA rs58895965 0.08 0.08 0.087 0.0644968 0.162 0.0109 0.072 0.0045 0.0951 0.16 0.02 0.09 0.01 0.1172 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.497131 NA NA 0.160581 0.036995 NA 0.087 NA 4.2268856 1237 22 51049217 51049217 C T UTR3 MAPK8IP2 NM_012324:c.*10C>T,NM_016431:c.*10C>T NA NA UTR3 ENSG00000008735 ENST00000399912:c.*10C>T,ENST00000341339:c.*10C>T,ENST00000442429:c.*10C>T,ENST00000329492:c.*10C>T,ENST00000008876:c.*10C>T,ENST00000399908:c.*10C>T NA NA NA NA 22q13.33 NA NA NA NA rs112640312 0.05 0.05 0.012 0.0123802 0.0249 0.004 0.0202 0.003 0.0153 0.06 0.03 0.04 0.07 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 -0.010056 NA NA 0.037864 0.005877 NA NA NA 4.2266694 1237 16 58566304 58566304 G A intronic CNOT1 NA NA NA intronic ENSG00000125107 NA NA NA NA Name=QT interval 16q21 NA NA NA NA rs37060 0.28 0.28 0.263 0.283746 0.2376 0.3849 0.4121 0.1339 0.3384 0.26 0.37 0.4 0.12 0.2805 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.491287 NA NA 0.255349 0.151729 NA 0.341 NA 4.226551 1237 16 81066339 81066339 T G UTR3 CENPN NM_001100625:c.*40T>G NA NA ncRNA_UTR3 ENSG00000166451 NA NA NA NA NA 16q23.2 NA NA NA NA rs77874075 0.12 0.12 0.109 0.113618 0.0924 0.2054 0.1081 0.053 0.1268 0.1 0.2 0.11 0.06 0.1053 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.421991 NA NA 0.07575 0.053968 NA 0.029 NA 4.22655 1237 13 37269199 37269199 C T UTR5 SERTM1 NM_203451:c.-17C>T NA NA UTR5 ENSG00000180440 ENST00000315190:c.-17C>T NA NA NA NA 13q13.3 NA NA NA NA rs61744457 0.02 0.02 0.008 0.0141773 0.0348 NA 0.0288 0.003 0.0123 0.04 NA 0.03 NA 0.0329 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 0.049342 NA NA 0.04 0.007036 NA NA NA 4.2256334 1237 10 13633835 13633835 A G intronic PRPF18 NA NA NA ncRNA_exonic ENSG00000227474 NA NA NA Score=467;Name=lod=105 NA 10p13 NA NA NA NA rs10906419 0.45 0.45 0.432 0.425519 0.3549 0.8135 0.4006 0.2005 0.4202 0.37 0.82 0.38 0.22 0.4043 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 0.294199 NA NA 0.348569 0.228881 NA 0.406 NA 4.2255643 1237 17 79618059 79618059 C T UTR3 PDE6G NM_002602:c.*45G>A NA NA UTR3 ENSG00000185527 ENST00000331056:c.*45G>A,ENST00000573076:c.*45G>A,ENST00000574024:c.*29G>A,ENST00000571224:c.*45G>A,ENST00000571004:c.*45G>A NA NA NA NA 17q25.3 NA NA Name=5 NA rs8477 0.53 0.53 0.499 0.585064 0.2843 0.7778 0.598 0.6467 0.6033 0.3 0.78 0.54 0.61 0.4747 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 -0.252785 NA NA 0.348953 0.600545 NA 0.507 NA 4.2253804 1237 9 14775779 14775779 A G intronic FREM1 NA NA NA intronic ENSG00000164946 NA NA NA Score=431;Name=lod=75 NA 9p22.3 NA NA NA NA rs1874108 0.18 0.18 0.185 0.183107 0.2744 0.1617 0.1902 0.0484 0.2883 0.28 0.14 0.21 0.07 0.2385 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.682204 NA NA 0.261968 0.07367 NA 0.268 NA 4.225132 1238 15 35275661 35275661 G A UTR5 ZNF770 NM_014106:c.-26C>T NA NA UTR5 ENSG00000198146 ENST00000356321:c.-26C>T,ENST00000559564:c.-26C>T NA NA NA NA 15q14 NA NA NA NA rs74008016 0.12 0.12 0.137 0.120807 0.0328 0.004 0.0432 0.3979 0.0123 0.04 0.0035 0.05 0.42 0.0529 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.014357 NA NA 0.023039 0.345227 NA 0.13 NA 4.2245944 1238 4 2743999 2743999 A G exonic TNIP2 NA synonymous SNV TNIP2:NM_001161527:exon6:c.T954C:p.A318A,TNIP2:NM_024309:exon6:c.T1275C:p.A425A exonic ENSG00000168884 NA synonymous SNV ENSG00000168884:ENST00000503235:exon5:c.T1026C:p.A342A,ENSG00000168884:ENST00000315423:exon6:c.T1275C:p.A425A,ENSG00000168884:ENST00000510267:exon6:c.T954C:p.A318A NA NA 4p16.3 NA NA Name=2 NA rs232712 0.77 0.77 0.741 0.787141 0.8181 0.6052 0.8804 0.7973 0.863 0.84 0.59 0.87 0.78 0.8157 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 -0.294953 NA NA 0.808399 0.78951 NA 0.797 NA 4.2244676 1238 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 1238 6 119510941 119510941 C A exonic MAN1A1 NA synonymous SNV MAN1A1:NM_005907:exon10:c.G1434T:p.A478A exonic ENSG00000111885 NA synonymous SNV ENSG00000111885:ENST00000368468:exon10:c.G1434T:p.A478A NA NA 6q22.31 Score=744;Name=V$MYOGNF1_01 NA NA NA rs2072890 0.69 0.69 0.665 0.679113 0.832 0.8343 0.6095 0.3707 0.8282 0.85 0.81 0.66 0.34 0.7825 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 -1.164141 NA NA 0.828372 0.472537 NA 0.652 NA 4.2237946 1238 17 79974731 79974731 T C exonic ASPSCR1 NA synonymous SNV ASPSCR1:NM_024083:exon14:c.T1461C:p.D487D,ASPSCR1:NM_001251888:exon15:c.T1743C:p.D581D exonic ENSG00000169696 NA nonsynonymous SNV ENSG00000169696:ENST00000584454:exon15:c.T1351C:p.C451R NA NA 17q25.3 NA NA NA NA rs13087 0.56 0.56 0.567 0.580272 0.5974 0.2788 0.5821 0.7935 0.5838 0.6 0.29 0.59 0.77 0.5906 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 -0.858033 NA NA 0.588256 0.76 NA 0.449 NA 4.223744 1238 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 1238 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 1238 6 31113030 31113030 A G exonic CCHCR1 NA synonymous SNV CCHCR1:NM_001105563:exon13:c.T1681C:p.L561L,CCHCR1:NM_001105564:exon13:c.T1789C:p.L597L,CCHCR1:NM_019052:exon13:c.T1522C:p.L508L exonic ENSG00000204536 NA synonymous SNV ENSG00000204536:ENST00000396263:exon11:c.T1363C:p.L455L,ENSG00000204536:ENST00000376266:exon13:c.T1522C:p.L508L,ENSG00000204536:ENST00000396268:exon13:c.T1789C:p.L597L,ENSG00000204536:ENST00000451521:exon13:c.T1681C:p.L561L Score=352;Name=lod=36 NA 6p21.33 NA NA NA NA rs3132539 0.85 0.85 0.829 0.863618 0.8241 0.8175 0.8905 0.9372 0.8333 0.82 0.79 0.86 0.94 0.8205 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 0.939712 NA NA 0.799372 0.906353 NA 0.746 NA 4.2226946 1238 7 43917013 43917013 G A exonic URGCP NA synonymous SNV URGCP:NM_017920:exon5:c.C2022T:p.H674H,URGCP:NM_001077663:exon6:c.C2049T:p.H683H,URGCP:NM_001077664:exon6:c.C1920T:p.H640H exonic ENSG00000106608 NA synonymous SNV ENSG00000106608:ENST00000336086:exon4:c.C1920T:p.H640H,ENSG00000106608:ENST00000223341:exon5:c.C1920T:p.H640H,ENSG00000106608:ENST00000402306:exon5:c.C2022T:p.H674H,ENSG00000106608:ENST00000443736:exon6:c.C1920T:p.H640H,ENSG00000106608:ENST00000453200:exon6:c.C2049T:p.H683H,ENSG00000106608:ENST00000447717:exon7:c.C1920T:p.H640H NA NA 7p13 NA NA NA NA rs2232105 0.46 0.46 0.423 0.492412 0.4602 0.5764 0.5173 0.326 0.6462 0.47 0.54 0.52 0.32 0.5111 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.218976 NA NA 0.472833 0.316274 NA 0.507 NA 4.2225336 1238 20 61040453 61040453 C G exonic GATA5 NA synonymous SNV GATA5:NM_080473:exon6:c.G981C:p.S327S exonic ENSG00000130700 NA synonymous SNV ENSG00000130700:ENST00000252997:exon6:c.G981C:p.S327S NA NA 20q13.33 NA NA NA NA rs6061243 0.51 0.51 0.533 0.534545 0.4642 0.4613 0.4755 0.7171 0.4775 0.45 0.46 0.44 0.71 0.4965 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.268203 NA NA 0.484062 0.647593 NA 0.297 NA 4.2219046 1238 11 73670645 73670645 T C exonic DNAJB13 NA synonymous SNV DNAJB13:NM_153614:exon3:c.T279C:p.H93H exonic ENSG00000187726 NA synonymous SNV ENSG00000187726:ENST00000339764:exon3:c.T279C:p.H93H NA NA 11q13.4 NA NA NA NA rs653263 0.59 0.59 0.628 0.601038 0.4751 0.4534 0.5663 0.8971 0.5072 0.47 0.49 0.6 0.9 0.5102 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 -0.20341 NA NA 0.459935 0.802727 NA 0.659 NA 4.2214316 1238 5 78317413 78317413 C T intronic DMGDH NA NA NA UTR3 ENSG00000132837 ENST00000523732:c.*17G>A,ENST00000380311:c.*17G>A,ENST00000518477:c.*1576G>A,ENST00000540686:c.*17G>A,ENST00000517853:c.*1104G>A NA NA NA NA 5q14.1 NA NA Name=136 NA rs731124 0.3 0.3 0.311 0.303914 0.2952 0.1389 0.2003 0.4909 0.3037 0.29 0.16 0.2 0.53 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 0.037988 NA NA 0.277694 0.452 NA 0.29 NA 4.2210727 1238 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 1238 3 121563285 121563285 T C intronic EAF2 NA NA NA intronic ENSG00000145088 NA NA NA NA NA 3q13.33 Score=904;Name=V$HFH3_01 NA NA NA rs11721291 0.2 0.2 0.195 0.184904 0.2753 0.1052 0.1412 0.267 0.0941 0.27 0.11 0.14 0.26 0.2229 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.981224 1.981224 NA 0.281512 0.254199 NA 0.362 NA 4.220288 1238 8 77745635 77745635 G A exonic ZFHX4 NA synonymous SNV ZFHX4:NM_024721:exon5:c.G3387A:p.S1129S exonic ENSG00000091656 NA synonymous SNV ENSG00000091656:ENST00000518282:exon4:c.G3309A:p.S1103S,ENSG00000091656:ENST00000521891:exon5:c.G3387A:p.S1129S NA NA 8q21.11 NA NA NA NA rs2733733 0.61 0.61 0.634 0.608027 0.4493 0.6478 0.5 0.8343 0.501 0.46 0.68 0.48 0.84 0.5391 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 0.579262 NA NA 0.458353 0.767286 NA 0.572 NA 4.2199136 1238 19 58928302 58928302 T C exonic ZNF584 NA synonymous SNV ZNF584:NM_173548:exon4:c.T417C:p.A139A exonic ENSG00000171574 NA synonymous SNV ENSG00000171574:ENST00000306910:exon4:c.T417C:p.A139A,ENSG00000171574:ENST00000593920:exon4:c.T282C:p.A94A NA NA 19q13.43 NA NA NA NA rs10423138 0.51 0.51 0.52 0.500599 0.497 0.3254 0.379 0.7882 0.3824 0.49 0.32 0.42 0.81 0.4672 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 0.384268 NA NA 0.482558 0.766909 NA 0.572 NA 4.2199086 1238 12 69136252 69136252 T C UTR3 NUP107 NM_020401:c.*10T>C NA NA UTR3 ENSG00000111581 ENST00000229179:c.*10T>C,ENST00000378905:c.*10T>C,ENST00000535718:c.*2067T>C,ENST00000539906:c.*10T>C NA NA NA NA 12q15 NA NA NA NA rs79419059 0.02 0.02 0.013 0.0171725 0.0457 NA 0.0447 0.0015 0.0072 0.04 NA 0.05 0.0041 0.0281 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 -0.663612 NA NA 0.039767 0.008398 NA 0.007 NA 4.2197664 1238 6 33690797 33690797 A G exonic IP6K3 NA synonymous SNV IP6K3:NM_054111:exon6:c.T933C:p.S311S,IP6K3:NM_001142883:exon7:c.T933C:p.S311S exonic ENSG00000161896 NA synonymous SNV ENSG00000161896:ENST00000293756:exon6:c.T933C:p.S311S,ENSG00000161896:ENST00000451316:exon7:c.T933C:p.S311S NA NA 6p21.31 NA NA NA NA rs4711341 0.42 0.42 0.43 0.531949 0.4761 0.8591 0.5865 0.118 0.773 0.37 0.73 0.5 0.08 0.5351 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 -1.202929 NA NA 0.436047 0.203813 NA 0.014 NA 4.2194196 1238 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 1238 17 7460685 7460685 G A UTR3 TNFSF12 NM_003809:c.*18G>A NA NA UTR3 ENSG00000239697 ENST00000293825:c.*18G>A,ENST00000322272:c.*602G>A NA NA NA NA 17p13.1 NA NA Name=5 NA rs1128963 0.27 0.27 0.264 0.271565 0.3887 0.3155 0.2608 0.0197 0.454 0.4 0.28 0.32 0.02 0.3501 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104185 NA NA 0.375932 0.079545 NA 0.326 NA 4.2186014 1238 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 1238 9 133962853 133962853 C T intronic LAMC3 NA NA NA intronic ENSG00000050555 NA NA NA NA NA 9q34.12 NA NA NA NA rs4740411 0.17 0.17 0.157 0.167732 0.2773 0.0833 0.245 0.0635 0.228 0.27 0.07 0.26 0.08 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 1.40325 1.40325 NA 0.269535 0.082615 NA 0.261 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117471.2|RCV000126560.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.217265 1238 2 240003870 240003870 G A exonic HDAC4 NA synonymous SNV HDAC4:NM_006037:exon21:c.C2565T:p.P855P exonic ENSG00000068024 NA synonymous SNV ENSG00000068024:ENST00000543185:exon15:c.C1317T:p.P439P,ENSG00000068024:ENST00000345617:exon21:c.C2565T:p.P855P NA NA 2q37.3 NA NA NA NA rs1063639 0.58 0.58 0.523 0.595248 0.4414 0.6885 0.6499 0.59 0.6258 0.45 0.69 0.64 0.62 0.5333 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 0.481303 NA NA 0.474767 0.567181 NA 0.355 NA 4.2171996 1238 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 1238 12 57618619 57618619 G A intronic NXPH4 NA NA NA intronic ENSG00000182379 NA NA NA NA NA 12q13.3 NA Name=TBP NA NA rs61736007 0.19 0.19 0.138 0.163339 0.2594 0.126 0.33 0.0499 0.138 0.26 0.14 0.31 0.06 0.2643 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.883251 NA NA 0.259432 0.075827 NA 0.109 NA 4.216868 1238 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 1238 10 134017295 134017295 A G exonic DPYSL4 NA synonymous SNV DPYSL4:NM_006426:exon13:c.A1491G:p.G497G exonic ENSG00000151640 NA synonymous SNV ENSG00000151640:ENST00000368627:exon9:c.A1011G:p.G337G,ENSG00000151640:ENST00000368629:exon11:c.A1011G:p.G337G,ENSG00000151640:ENST00000338492:exon13:c.A1491G:p.G497G Score=419;Name=lod=67 NA 10q26.3 NA NA NA NA rs12313 0.84 0.84 0.802 0.841653 0.8052 0.9583 0.8718 0.7549 0.8548 0.8 0.95 0.83 0.76 0.8348 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 -0.112086 NA NA 0.810959 0.751817 NA 0.783 NA 4.2157076 1238 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 1238 2 220505265 220505265 T C exonic SLC4A3 NA synonymous SNV SLC4A3:NM_005070:exon21:c.T3391C:p.L1131L,SLC4A3:NM_201574:exon21:c.T3472C:p.L1158L exonic ENSG00000114923 NA synonymous SNV ENSG00000114923:ENST00000273063:exon21:c.T3472C:p.L1158L,ENSG00000114923:ENST00000317151:exon21:c.T3391C:p.L1131L,ENSG00000114923:ENST00000358055:exon21:c.T3391C:p.L1131L,ENSG00000114923:ENST00000373760:exon21:c.T3391C:p.L1131L,ENSG00000114923:ENST00000373762:exon21:c.T3472C:p.L1158L Score=448;Name=lod=88 NA 2q35 NA NA NA NA rs684428 0.74 0.74 0.69 0.690895 0.8191 0.8105 0.8084 0.4251 0.7117 0.84 0.85 0.78 0.41 0.7946 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 1.011968 NA NA 0.837442 0.478892 ID=COSM1157765;OCCURENCE=1(pancreas) 0.63 NA 4.2155246 1238 16 57057679 57057679 C T intronic NLRC5 NA NA NA intronic ENSG00000140853 NA NA NA NA NA 16q13 NA NA Name=3 NA rs12445252 0.16 0.16 0.153 0.147963 0.2704 0.0496 0.2435 0.0643 0.1687 0.28 0.03 0.25 0.06 0.2467 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133763 NA NA 0.267558 0.102821 NA 0.116 NA 4.215342 1239 12 133197018 133197018 G A intronic P2RX2 NA NA NA intronic ENSG00000187848 NA NA NA NA NA 12q24.33 NA Name=Pol2 Name=9 NA rs6560891 0.7 0.7 0.681 0.707668 0.5606 0.7788 0.7507 0.8313 0.5879 0.56 0.79 0.73 0.81 0.6392 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 1.026001 NA NA 0.585581 0.78847 NA 0.725 NA 4.214619 1239 1 156693135 156693135 C T UTR3 ISG20L2 NM_030980:c.*6G>A NA NA UTR3 ENSG00000143319 ENST00000313146:c.*6G>A,ENST00000368219:c.*6G>A NA NA NA NA 1q23.1 NA NA NA NA rs1133856 0.01 0.01 0.008 0.0107827 0.0328 0.001 0.0159 NA 0.0092 0.03 0.0017 0.01 NA 0.036 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 1.196005 NA NA 0.050116 0.007717 NA 0.007 NA 4.2144174 1239 15 62978821 62978821 T A intronic TLN2 NA NA NA ncRNA_intronic ENSG00000259756 NA NA NA NA NA 15q22.2 NA NA NA NA rs112279831 0.01 0.01 0.011 0.0197684 0.0358 0.001 0.0086 0.0023 0.0542 0.03 0.0017 0.01 0.01 0.0474 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 1.114139 NA NA 0.035814 0.006809 NA 0.007 NA 4.2143193 1239 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 1239 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 1239 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 1239 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 1239 19 964434 964434 G A intronic ARID3A NA NA NA intronic ENSG00000116017 NA NA NA Score=502;Name=lod=146 NA 19p13.3 NA NA NA NA rs2240615 0.19 0.19 0.191 0.182508 0.2455 0.1637 0.1931 0.1127 0.2239 0.24 0.2 0.22 0.09 0.2872 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.499874 1.499874 NA 0.254129 0.130909 NA 0.094 NA 4.213171 1239 4 177137988 177137988 C T exonic ASB5 NA synonymous SNV ASB5:NM_080874:exon6:c.G843A:p.R281R exonic ENSG00000164122 NA synonymous SNV ENSG00000164122:ENST00000296525:exon6:c.G843A:p.R281R,ENSG00000164122:ENST00000512254:exon6:c.G684A:p.R228R NA NA 4q34.2 NA NA NA NA rs6827525 0.52 0.52 0.491 0.515575 0.4751 0.5675 0.5533 0.5219 0.4683 0.48 0.56 0.53 0.55 0.5023 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.364137 NA NA 0.476163 0.497049 NA 0.42 NA 4.2131036 1239 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 1239 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 1239 9 95420983 95420983 A G intronic IPPK NA NA NA intronic ENSG00000127080 NA NA NA NA NA 9q22.31 Score=1000;Name=V$SRY_01 NA NA NA rs10992393 0.22 0.22 0.224 0.205272 0.2803 0.004 0.1859 0.4266 0.0501 0.27 NA 0.2 0.42 0.228 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.09151 NA NA 0.280116 0.390377 NA 0.261 NA 4.211584 1239 10 134036073 134036073 G A intronic STK32C NA NA NA intronic ENSG00000165752 NA NA NA NA NA 10q26.3 NA Name=NRSF NA NA rs2814196 0.79 0.79 0.74 0.765176 0.7893 0.8413 0.8573 0.6498 0.7526 0.78 0.86 0.82 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 0.367975 NA NA NA NA NA 0.732 NA 4.2107 1239 16 56855496 56855496 C G exonic NUP93 NA synonymous SNV NUP93:NM_001242795:exon5:c.C276G:p.L92L,NUP93:NM_001242796:exon5:c.C276G:p.L92L,NUP93:NM_014669:exon7:c.C645G:p.L215L exonic ENSG00000102900 NA synonymous SNV ENSG00000102900:ENST00000563858:exon3:c.C24G:p.L8L,ENSG00000102900:ENST00000542526:exon5:c.C276G:p.L92L,ENSG00000102900:ENST00000564887:exon5:c.C276G:p.L92L,ENSG00000102900:ENST00000567641:exon5:c.C276G:p.L92L,ENSG00000102900:ENST00000569863:exon6:c.C276G:p.L92L,ENSG00000102900:ENST00000308159:exon7:c.C645G:p.L215L,ENSG00000102900:ENST00000569842:exon7:c.C645G:p.L215L Score=493;Name=lod=135 NA 16q13 NA NA NA NA rs2118017 0.86 0.86 0.862 0.875799 0.8191 0.9236 0.853 0.8994 0.8691 0.8 0.91 0.85 0.89 0.8299 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 0.966041 NA NA 0.807209 0.883076 NA 0.819 NA 4.2104576 1239 10 12209752 12209752 T C exonic NUDT5 NA synonymous SNV NUDT5:NM_014142:exon10:c.A609G:p.A203A exonic ENSG00000065665,ENSG00000165609 NA synonymous SNV ENSG00000165609:ENST00000491614:exon10:c.A609G:p.A203A,ENSG00000165609:ENST00000537776:exon10:c.A609G:p.A203A,ENSG00000165609:ENST00000378937:exon11:c.A648G:p.A216A,ENSG00000065665:ENST00000475268:exon12:c.T1245C:p.S415S NA NA 10p13 NA NA NA NA rs6686 0.49 0.49 0.469 0.46226 0.4821 0.5575 0.5245 0.4251 0.3497 0.5 0.56 0.49 0.4 0.4763 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.334236 NA NA 0.497907 0.450522 NA 0.514 NA 4.2103596 1239 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 1239 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 1239 9 135206460 135206460 A G exonic SETX NA synonymous SNV SETX:NM_015046:exon9:c.T1077C:p.Y359Y exonic ENSG00000107290 NA synonymous SNV ENSG00000107290:ENST00000224140:exon9:c.T1077C:p.Y359Y,ENSG00000107290:ENST00000372169:exon9:c.T1077C:p.Y359Y,ENSG00000107290:ENST00000393220:exon9:c.T1077C:p.Y359Y NA NA 9q34.13 NA NA NA NA rs9411449 0.65 0.65 0.608 0.626597 0.8628 0.374 0.7911 0.5522 0.6278 0.86 0.35 0.78 0.57 0.7477 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 0.730684 NA NA 0.846592 0.636632 ID=COSM150734;OCCURENCE=1(stomach) 0.732 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081691.3;CLNDSDB=.;CLNDSDBID=. 4.2095746 1239 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 1239 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 1239 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 1239 17 10243717 10243717 G A exonic MYH13 NA synonymous SNV MYH13:NM_003802:exon17:c.C1896T:p.G632G exonic ENSG00000006788 NA synonymous SNV ENSG00000006788:ENST00000418404:exon16:c.C1896T:p.G632G,ENSG00000006788:ENST00000252172:exon17:c.C1896T:p.G632G,ENSG00000006788:ENST00000570743:exon17:c.C1896T:p.G632G Score=300;Name=lod=22 NA 17p13.1 NA NA NA NA rs3760423 0.8 0.8 0.79 0.763978 0.8151 0.9395 0.8429 0.6188 0.6708 0.82 0.93 0.85 0.61 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 1.595978 1.595978 NA 0.829828 0.702381 NA 0.717 NA 4.2093386 1239 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 1239 14 22891794 22891794 G A intergenic OR4E2,DAD1 dist=757556;dist=142013 NA NA exonic ENSG00000211821 NA nonsynonymous SNV ENSG00000211821:ENST00000390469:exon2:c.G106A:p.V36I NA NA 14q11.2 NA NA NA NA rs2072615 0.14 0.14 0.132 0.146965 0.1998 0.1677 0.1081 0.0151 0.2771 0.2 0.2 0.12 0.01 0.2026 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.632381 1.632381 0.06 0.222182 0.048033 NA 0.116 NA 4.2087514 1239 7 76608143 76608143 C T intergenic LOC100133091,DTX2P1-UPK3BP1-PMS2P11 dist=350844;dist=1996 NA NA ncRNA_exonic ENSG00000186704 NA NA NA Score=637;Name=lod=518 NA 7q11.23 NA NA NA NA rs2245368 0.68 0.68 0.7 0.661342 0.7913 0.3938 0.621 0.8533 0.5726 0.79 0.41 0.66 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 -0.515624 NA NA NA NA NA 0.652 NA 4.2087 1239 19 48654553 48654553 G T exonic LIG1 NA synonymous SNV LIG1:NM_000234:exon7:c.C510A:p.A170A exonic ENSG00000105486 NA synonymous SNV ENSG00000105486:ENST00000427526:exon6:c.C417A:p.A139A,ENSG00000105486:ENST00000542460:exon6:c.C414A:p.A138A,ENSG00000105486:ENST00000263274:exon7:c.C510A:p.A170A,ENSG00000105486:ENST00000594759:exon7:c.C507A:p.A169A,ENSG00000105486:ENST00000601091:exon7:c.C510A:p.A170A NA NA 19q13.33 NA NA NA NA rs20580 0.56 0.56 0.535 0.532947 0.4901 0.6885 0.4726 0.5613 0.4213 0.48 0.69 0.49 0.58 0.4875 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 0.202954 NA NA 0.480814 0.556968 NA 0.543 NA 4.2082526 1239 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 1239 9 130210946 130210946 A G intronic RPL12 NA NA NA intronic ENSG00000197958 NA NA NA NA NA 9q33.3 NA Name=Pol2-4H8,Pol2(phosphoS2),Pol2 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 1239 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 1239 19 15795842 15795842 C T intronic CYP4F12 NA NA NA intronic ENSG00000186204 NA NA NA NA NA 19p13.12 Score=730;Name=V$NRSF_01 Name=NRSF Name=5 NA rs2018030 0.95 0.95 0.95 0.946885 0.9245 1 0.9654 0.9418 0.909 0.92 1 0.97 0.93 0.9394 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.293461 NA NA 0.928953 0.952067 NA 0.928 NA 4.207147 1239 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 1239 8 144671922 144671922 G A exonic EEF1D NA synonymous SNV EEF1D:NM_001130053:exon3:c.C330T:p.R110R,EEF1D:NM_032378:exon3:c.C330T:p.R110R exonic ENSG00000104529 NA synonymous SNV ENSG00000104529:ENST00000532741:exon1:c.C480T:p.R160R,ENSG00000104529:ENST00000524883:exon2:c.C330T:p.R110R,ENSG00000104529:ENST00000526710:exon2:c.C330T:p.R110R,ENSG00000104529:ENST00000528519:exon2:c.C330T:p.R110R,ENSG00000104529:ENST00000531281:exon2:c.C330T:p.R110R,ENSG00000104529:ENST00000423316:exon3:c.C330T:p.R110R,ENSG00000104529:ENST00000442189:exon3:c.C330T:p.R110R,ENSG00000104529:ENST00000529832:exon3:c.C330T:p.R110R,ENSG00000104529:ENST00000530306:exon3:c.C330T:p.R110R,ENSG00000104529:ENST00000531670:exon3:c.C330T:p.R110R,ENSG00000104529:ENST00000532596:exon3:c.C330T:p.R110R NA NA 8q24.3 NA Name=PU.1 NA NA rs3812448 0.65 0.65 0.622 0.639377 0.8499 0.5099 0.7522 0.4803 0.6912 0.85 0.47 0.81 0.46 0.7602 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 -0.369383 NA NA 0.850012 0.512051 NA 0.681 NA 4.2065546 1239 2 10188649 10188649 A T exonic KLF11 NA synonymous SNV KLF11:NM_001177716:exon3:c.A1134T:p.V378V,KLF11:NM_001177718:exon3:c.A1134T:p.V378V,KLF11:NM_003597:exon3:c.A1185T:p.V395V exonic ENSG00000172059 NA synonymous SNV ENSG00000172059:ENST00000305883:exon3:c.A1185T:p.V395V,ENSG00000172059:ENST00000535335:exon3:c.A1134T:p.V378V,ENSG00000172059:ENST00000540845:exon3:c.A1134T:p.V378V Score=616;Name=lod=426 NA 2p25.1 NA NA NA NA rs11687357 0.84 0.84 0.826 0.835264 0.8201 0.8313 0.8746 0.8215 0.8456 0.82 0.83 0.89 0.82 0.834 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 0.359056 NA NA 0.806279 0.812528 NA 0.739 NA 4.2062876 1239 1 167849414 167849414 A G exonic ADCY10 NA synonymous SNV ADCY10:NM_001167749:exon8:c.T696C:p.G232G,ADCY10:NM_018417:exon11:c.T1155C:p.G385G exonic ENSG00000143199 NA synonymous SNV ENSG00000143199:ENST00000545172:exon8:c.T696C:p.G232G,ENSG00000143199:ENST00000367848:exon11:c.T879C:p.G293G,ENSG00000143199:ENST00000367851:exon11:c.T1155C:p.G385G NA NA 1q24.2 NA NA NA NA rs203849 0.48 0.48 0.511 0.493211 0.504 0.3224 0.4597 0.6687 0.4448 0.49 0.35 0.45 0.65 0.4775 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.903162 NA NA 0.479414 0.641398 ID=COSM146675;OCCURENCE=1(stomach) 0.486 NA 4.2057526 1239 19 33696708 33696708 T C exonic LRP3 NA synonymous SNV LRP3:NM_002333:exon5:c.T1032C:p.T344T exonic ENSG00000130881 NA synonymous SNV ENSG00000130881:ENST00000253193:exon5:c.T1032C:p.T344T NA NA 19q13.11 Score=779;Name=V$ER_Q6 NA NA NA rs2112800 0.66 0.66 0.647 0.678714 0.8489 0.3998 0.7334 0.6271 0.8221 0.85 0.39 0.75 0.6 0.7739 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 -0.973698 NA NA 0.838354 0.66113 NA 0.558 NA 4.2055126 1239 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 1239 4 186423637 186423637 G A exonic PDLIM3 NA synonymous SNV PDLIM3:NM_001257963:exon5:c.C405T:p.V135V,PDLIM3:NM_001114107:exon7:c.C762T:p.V254V,PDLIM3:NM_001257962:exon7:c.C642T:p.V214V,PDLIM3:NM_014476:exon8:c.C906T:p.V302V exonic ENSG00000154553 NA synonymous SNV ENSG00000154553:ENST00000284771:exon7:c.C762T:p.V254V,ENSG00000154553:ENST00000284770:exon8:c.C906T:p.V302V NA NA 4q35.1 NA NA Name=4 NA rs4635850 0.69 0.69 0.648 0.659545 0.825 0.8125 0.7896 0.3132 0.7076 0.83 0.79 0.76 0.3 0.783 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 1.231741 NA NA 0.853488 0.390604 NA 0.587 NA 4.2051786 1239 1 112269872 112269872 G A exonic FAM212B NA synonymous SNV FAM212B:NM_019099:exon2:c.C612T:p.F204F,FAM212B:NM_198926:exon2:c.C567T:p.F189F exonic ENSG00000197852 NA synonymous SNV ENSG00000197852:ENST00000357260:exon2:c.C612T:p.F204F,ENSG00000197852:ENST00000444059:exon2:c.C567T:p.F189F Score=488;Name=lod=128 NA 1p13.2 NA NA NA NA rs197434 0.85 0.85 0.851 0.860623 0.8191 0.8254 0.7464 0.9607 0.8855 0.82 0.83 0.78 0.96 0.8237 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 0.514958 NA NA 0.818721 0.933046 NA 0.855 NA 4.2051456 1240 2 160245844 160245844 C T intronic BAZ2B NA NA NA ncRNA_intronic ENSG00000223642 NA NA NA NA NA 2q24.2 NA NA NA NA rs62171533 0.03 0.03 0.032 0.0353435 0.0437 0.002 0.0331 0.0303 0.0695 0.04 NA 0.05 0.03 0.0451 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 -0.303731 NA NA 0.03956 0.026344 NA 0.007 NA 4.2049733 1240 20 44599839 44599839 G C intronic ZNF335 NA NA NA intronic ENSG00000198026 NA NA NA NA NA 20q13.12 NA Name=c-Myc,PAX5-C20,Egr-1 Name=62 NA rs6017715 0.86 0.86 0.882 0.859824 0.9423 0.7778 0.6931 0.9448 0.863 0.94 0.75 0.78 0.93 0.8938 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 -0.70148 NA NA 0.959067 0.944689 NA 0.877 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118912.2;CLNDSDB=.;CLNDSDBID=. 4.204833 1240 2 217347428 217347428 C T intronic SMARCAL1 NA NA NA ncRNA_intronic ENSG00000232485 NA NA NA NA NA 2q35 NA NA NA NA rs71579835 0.02 0.02 0.018 0.0181709 0.0457 NA 0.0101 0.0008 0.0378 0.05 NA 0.01 NA 0.0384 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 0.273391 NA NA 0.044429 0.008629 NA 0.022 NA 4.2048043 1240 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 1240 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 1240 14 107170219 107170219 C G intergenic LINC00221,NONE dist=218690;dist=NONE NA NA exonic ENSG00000211973 NA synonymous SNV ENSG00000211973:ENST00000390633:exon2:c.G63C:p.V21V NA NA 14q32.33 NA Name=Pol2,ZEB1_(SC-25388) NA NA rs2187989 0.56 0.56 0.563 0.627995 0.4016 0.504 0.4726 0.9493 0.6646 0.4 0.47 0.49 0.95 0.4912 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 -1.074869 NA NA 0.403171 0.860634 NA 0.609 NA 4.204029 1240 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 1240 8 125061895 125061895 G A exonic FER1L6 NA synonymous SNV FER1L6:NM_001039112:exon22:c.G2772A:p.K924K exonic ENSG00000214814 NA synonymous SNV ENSG00000214814:ENST00000399018:exon21:c.G2772A:p.K924K,ENSG00000214814:ENST00000522917:exon22:c.G2772A:p.K924K NA NA 8q24.13 NA NA NA NA rs4870887 0.49 0.49 0.482 0.48103 0.492 0.506 0.4452 0.5038 0.4387 0.49 0.51 0.47 0.49 0.4721 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164871 NA NA 0.499157 0.465224 NA 0.464 NA 4.2034096 1240 14 74370600 74370600 G C intronic ZNF410 NA NA NA ncRNA_UTR5 ENSG00000119725 NA NA NA NA NA 14q24.3 NA NA NA NA rs57218552 0.1 0.1 0.086 0.0936502 0.1302 0.0734 0.2262 0.0091 0.0971 0.14 0.07 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 0.007507 NA NA NA NA NA 0.109 NA 4.2031333 1240 11 613192 613192 A G intronic IRF7 NA NA NA intronic ENSG00000185507 NA NA NA NA NA 11p15.5 NA Name=Pol2-4H8 NA NA rs12422022 0.28 0.28 0.263 0.275559 0.2674 0.0208 0.3026 0.5847 0.1094 0.26 0.01 0.34 0.58 0.2527 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.470666 NA NA 0.276769 0.499317 NA 0.239 NA 4.203131 1240 1 22150778 22150778 G C UTR3 LDLRAD2 NM_001013693:c.*2070G>C NA NA UTR3 ENSG00000187942 ENST00000344642:c.*2070G>C NA NA NA NA 1p36.12 NA NA NA NA rs78845480 0.02 0.02 0.014 0.0291534 0.0398 NA 0.0231 0.0015 0.09 0.04 NA 0.03 0.0041 0.0417 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 1.48046 1.48046 NA 0.048837 0.007717 NA 0.014 NA 4.2029964 1240 14 23000062 23000062 T C intergenic OR4E2,DAD1 dist=865824;dist=33745 NA NA exonic ENSG00000211876 NA unknown UNKNOWN Score=410;Name=lod=62 NA 14q11.2 NA Name=YY1_(C-20),YY1 NA NA rs227003 0.79 0.79 0.789 0.811901 0.6243 0.9583 0.7738 0.8548 0.8231 0.63 0.96 0.73 0.86 0.7214 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 -0.125628 NA NA 0.618242 0.826741 NA 0.725 NA 4.2027247 1240 14 22133416 22133416 A G exonic OR4E2 NA synonymous SNV OR4E2:NM_001001912:exon1:c.A120G:p.S40S exonic ENSG00000221977 NA synonymous SNV ENSG00000221977:ENST00000408935:exon1:c.A120G:p.S40S NA NA 14q11.2 NA NA NA NA rs12717305 0.48 0.48 0.465 0.471246 0.494 0.3641 0.5317 0.6263 0.3057 0.5 0.33 0.51 0.59 0.4747 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.376351 NA NA 0.49544 0.606764 NA 0.435 NA 4.2025266 1240 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 1240 2 235950187 235950187 T C exonic SH3BP4 NA synonymous SNV SH3BP4:NM_014521:exon4:c.T774C:p.D258D exonic ENSG00000130147 NA synonymous SNV ENSG00000130147:ENST00000344528:exon4:c.T774C:p.D258D,ENSG00000130147:ENST00000392011:exon4:c.T774C:p.D258D,ENSG00000130147:ENST00000409212:exon4:c.T774C:p.D258D NA NA 2q37.2 NA NA NA NA rs1469375 0.68 0.68 0.677 0.721845 0.4523 0.9147 0.6354 0.8578 0.6779 0.45 0.92 0.6 0.83 0.5622 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 -1.846651 NA NA 0.45 0.797095 NA 0.717 NA 4.2021666 1240 1 18023365 18023365 C T exonic ARHGEF10L NA synonymous SNV ARHGEF10L:NM_001011722:exon27:c.C3213T:p.N1071N,ARHGEF10L:NM_018125:exon29:c.C3330T:p.N1110N exonic ENSG00000074964 NA synonymous SNV ENSG00000074964:ENST00000167825:exon18:c.C2439T:p.N813N,ENSG00000074964:ENST00000375408:exon20:c.C2649T:p.N883N,ENSG00000074964:ENST00000375415:exon27:c.C3213T:p.N1071N,ENSG00000074964:ENST00000452522:exon28:c.C3213T:p.N1071N,ENSG00000074964:ENST00000361221:exon29:c.C3330T:p.N1110N Score=527;Name=lod=184 NA 1p36.13 NA NA NA NA rs2270978 0.77 0.77 0.748 0.784744 0.8171 0.8363 0.8674 0.5855 0.909 0.8 0.83 0.86 0.59 0.8169 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 0.768245 NA NA 0.831512 0.634589 NA 0.797 NA 4.2011546 1240 15 80452268 80452268 G A intronic FAH NA NA NA intronic ENSG00000103876 NA NA NA NA NA 15q25.1 NA Name=BATF Name=49 NA rs1370273 0.63 0.63 0.662 0.640375 0.5855 0.7857 0.487 0.618 0.6861 0.59 0.77 0.51 0.6 0.6173 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 0.025927 NA NA 0.596047 0.631639 NA 0.609 NA 4.201153 1240 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 1240 1 1404001 1404001 G T UTR3 ATAD3C NM_001039211:c.*91G>T NA NA UTR3 ENSG00000215915 ENST00000378785:c.*91G>T NA NA NA NA 1p36.33 NA NA NA NA rs149123833 0.08 0.08 0.034 0.0676917 0.0388 0.126 0.0778 0.031 0.0798 0.04 0.13 0.09 0.07 0.0646 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.910814 NA 0 0.029095 0.025451 NA NA NA 4.2008384 1240 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 1240 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 1240 1 110741081 110741081 C G UTR3 SLC6A17 NM_001010898:c.*15C>G NA NA UTR3 ENSG00000197106 ENST00000331565:c.*15C>G NA NA NA NA 1p13.3 NA NA NA NA rs2761446 0.02 0.02 0.016 0.0169728 0.0457 NA 0.0216 0.003 0.0204 0.04 NA 0.02 0.0041 0.039 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 1.485632 1.485632 NA 0.048605 0.008398 NA 0.014 NA 4.2000284 1240 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 1240 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 1240 21 40555160 40555160 C G intronic PSMG1 NA NA NA UTR3 ENSG00000183527 ENST00000411828:c.*14G>C NA NA NA NA 21q22.2 NA Name=Pol2,HA-E2F1,Ini1,Pol2-4H8,c-Myc,Sin3Ak-20,Pol2(b),ZNF263 NA NA rs34294410 0.22 0.22 0.205 0.21226 0.3161 0.0367 0.2176 0.2897 0.1779 0.32 0.03 0.25 0.28 0.3083 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.269556 NA NA 0.342528 0.294866 NA 0.254 NA 4.1997387 1240 13 25171521 25171521 T G ncRNA_intronic TPTE2P6 NA NA NA ncRNA_intronic ENSG00000205822,ENSG00000243008 NA NA NA NA NA 13q12.12 NA NA NA NA rs7993300 0.54 0.54 0.513 0.558906 0.4672 0.5744 0.6009 0.5151 0.6667 0.48 0.61 0.56 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 -0.175267 NA NA NA NA NA 0.123 NA 4.1994666 1240 3 182871962 182871962 C T exonic LAMP3 NA synonymous SNV LAMP3:NM_014398:exon2:c.G267A:p.A89A exonic ENSG00000078081 NA synonymous SNV ENSG00000078081:ENST00000265598:exon2:c.G267A:p.A89A,ENSG00000078081:ENST00000466939:exon2:c.G195A:p.A65A,ENSG00000078081:ENST00000470251:exon3:c.G195A:p.A65A,ENSG00000078081:ENST00000476015:exon3:c.G267A:p.A89A NA NA 3q27.1 NA NA Name=4 NA rs653316 0.8 0.8 0.784 0.785942 0.829 0.7242 0.8285 0.7844 0.7771 0.82 0.74 0.8 0.81 0.8076 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 0.298612 NA NA 0.83093 0.789832 NA 0.739 NA 4.1991366 1240 10 486983 486983 G A intronic DIP2C NA NA NA ncRNA_exonic ENSG00000233021 NA NA NA NA NA 10p15.3 NA NA NA NA rs61837201 0.15 0.15 0.15 0.170327 0.0308 0.0526 0.0648 0.5113 0.0491 0.03 0.05 0.08 0.51 0.0691 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.261272 NA NA 0.034535 0.417158 NA 0.159 NA 4.1988983 1240 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 1240 1 16534002 16534002 C G intronic ARHGEF19 NA NA NA intronic ENSG00000142632 NA NA NA NA NA 1p36.13 NA Name=Pol2-4H8,Pol2 NA NA rs221056 0.22 0.22 0.169 0.266973 0.2654 0.1528 0.4063 0.1664 0.4233 0.28 0.13 0.34 0.15 0.2752 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.272019 1.272019 NA 0.260814 0.176123 NA 0.232 NA 4.198586 1240 2 39507417 39507417 T A exonic MAP4K3 NA synonymous SNV MAP4K3:NM_001270425:exon22:c.A1647T:p.T549T,MAP4K3:NM_003618:exon23:c.A1710T:p.T570T exonic ENSG00000011566 NA synonymous SNV ENSG00000011566:ENST00000536018:exon15:c.A369T:p.T123T,ENSG00000011566:ENST00000341681:exon22:c.A1647T:p.T549T,ENSG00000011566:ENST00000437545:exon22:c.A1458T:p.T486T,ENSG00000011566:ENST00000263881:exon23:c.A1710T:p.T570T Score=437;Name=lod=80 NA 2p22.1 NA NA NA NA rs3755176 0.68 0.68 0.636 0.627196 0.8549 0.7966 0.7363 0.2012 0.7168 0.86 0.79 0.73 0.25 0.7717 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 1.107917 NA NA 0.841787 0.322515 NA 0.63 NA 4.1982796 1240 10 43596179 43596179 G A intronic RET NA NA NA intronic ENSG00000165731 NA NA NA NA NA 10q11.21 NA NA NA NA rs2435351 0.18 0.18 0.131 0.185503 0.2555 0.1161 0.2795 0.0598 0.2883 0.26 0.1 0.26 0.07 0.2822 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.822532 NA NA 0.264747 0.099134 NA 0.196 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082056.1;CLNDSDB=.;CLNDSDBID=. 4.197553 1240 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 1240 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 1240 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=p300_(N-15),STAT3,TBP,AP-2gamma,CEBPB,GTF2F1_(RAP-74) 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 1240 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 1240 19 15226970 15226970 G A exonic ILVBL NA synonymous SNV ILVBL:NM_006844:exon12:c.C1464T:p.L488L exonic ENSG00000105135 NA synonymous SNV ENSG00000105135:ENST00000534378:exon11:c.C1143T:p.L381L,ENSG00000105135:ENST00000263383:exon12:c.C1464T:p.L488L NA NA 19p13.12 NA NA NA NA rs2074262 0.45 0.45 0.433 0.411741 0.507 0.4782 0.4741 0.2458 0.4254 0.51 0.48 0.44 0.3 0.4692 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.032891 NA NA 0.494419 0.284385 NA 0.442 NA 4.1960476 1240 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 1240 14 102550803 102550803 G A exonic HSP90AA1 NA synonymous SNV HSP90AA1:NM_005348:exon6:c.C1080T:p.N360N,HSP90AA1:NM_001017963:exon7:c.C1446T:p.N482N exonic ENSG00000080824 NA synonymous SNV ENSG00000080824:ENST00000441629:exon4:c.C543T:p.N181N,ENSG00000080824:ENST00000216281:exon6:c.C1080T:p.N360N,ENSG00000080824:ENST00000334701:exon7:c.C1446T:p.N482N Score=695;Name=lod=890 NA 14q32.31 NA NA NA NA rs4947 0.7 0.7 0.654 0.684505 0.841 0.8026 0.8415 0.2837 0.8323 0.85 0.78 0.8 0.29 0.7869 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 1.06591 NA NA 0.842907 0.357694 NA 0.652 NA 4.1958596 1240 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 1240 19 54664752 54664752 A C exonic TMC4 NA synonymous SNV TMC4:NM_001145303:exon13:c.T1854G:p.L618L,TMC4:NM_144686:exon13:c.T1836G:p.L612L exonic ENSG00000167608 NA synonymous SNV ENSG00000167608:ENST00000416963:exon6:c.T600G:p.L200L,ENSG00000167608:ENST00000301187:exon13:c.T1836G:p.L612L,ENSG00000167608:ENST00000376591:exon13:c.T1854G:p.L618L NA NA 19q13.42 NA NA NA NA rs36656 0.4 0.4 0.396 0.433906 0.5149 0.2073 0.4222 0.441 0.5828 0.52 0.2 0.44 0.4 0.4605 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294262 NA NA 0.495581 0.423286 NA 0.486 NA 4.1956856 1240 11 65638719 65638719 G A exonic EFEMP2 NA synonymous SNV EFEMP2:NM_016938:exon4:c.C276T:p.H92H exonic ENSG00000172638 NA synonymous SNV ENSG00000172638:ENST00000526624:exon3:c.C276T:p.H92H,ENSG00000172638:ENST00000307998:exon4:c.C276T:p.H92H,ENSG00000172638:ENST00000527378:exon4:c.C276T:p.H92H,ENSG00000172638:ENST00000528176:exon4:c.C276T:p.H92H,ENSG00000172638:ENST00000531972:exon4:c.C276T:p.H92H NA NA 11q13.1 NA NA NA NA rs633800 0.31 0.31 0.301 0.321086 0.503 0.2262 0.3127 0.0953 0.5429 0.51 0.19 0.36 0.11 0.4503 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.829417 NA NA 0.51804 0.1597 NA 0.268 NA 4.1953266 1240 6 33359716 33359716 G C UTR5 KIFC1 NM_002263:c.-47G>C NA NA UTR5 ENSG00000237649 ENST00000428849:c.-47G>C,ENST00000450504:c.-47G>C NA NA NA NA 6p21.32 NA Name=Pol2(b),NF-YB,Sin3Ak-20,SREBP1,HEY1,TAF1,Pol2-4H8,HDAC2_(SC-6296),Pol2,Pol2(phosphoS2),USF-1,HA-E2F1,CHD2_(N-1250) NA NA rs465223 0.31 0.31 0.269 0.289736 0.4026 0.3234 0.3703 0.0855 0.3579 0.41 0.31 0.4 0.09 0.3717 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.157039 NA NA 0.363806 0.127553 NA 0.37 NA 4.1952274 1241 10 47087830 47087830 G A exonic NPY4R NA synonymous SNV NPY4R:NM_005972:exon3:c.G1047A:p.S349S exonic ENSG00000204174 NA synonymous SNV ENSG00000204174:ENST00000395716:exon2:c.G1047A:p.S349S,ENSG00000204174:ENST00000374312:exon3:c.G1047A:p.S349S NA NA 10q11.22 NA NA NA NA rs1129839 0.85 0.85 0.864 0.826478 0.7177 0.9891 0.8184 0.798 0.8149 0.76 0.99 0.83 0.83 0.754 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 -1.472437 NA NA NA NA NA 0.746 NA 4.1949666 1241 19 51522291 51522291 G C intronic KLK10 NA NA NA intronic ENSG00000129451 NA NA NA NA NA 19q13.41 NA Name=CEBPB,Pol2-4H8 Name=23 NA rs2304157 0.69 0.69 0.538 0.678714 0.6183 0.6488 0.67 0.9342 0.4325 0.61 0.62 0.67 0.92 0.6551 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 -1.136968 NA NA 0.531861 0.788144 NA 0.572 NA 4.194739 1241 2 216253039 216253039 G C intronic FN1 NA NA NA intronic ENSG00000115414 NA NA NA NA NA 2q35 NA Name=HEY1 Name=3 NA rs1250215 0.4 0.4 0.343 0.411741 0.6272 0.2351 0.4553 0.2458 0.5654 0.63 0.18 0.43 0.25 0.5491 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325177 NA NA 0.629535 0.318429 NA 0.297 NA 4.194165 1241 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 1241 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 1241 15 36984409 36984409 T C intronic C15orf41 NA NA NA intronic ENSG00000186073 NA NA NA Score=711;Name=lod=1031 NA 15q14 NA NA NA Score=77;Name=785115_0_+_77 rs3743338 0.59 0.59 0.542 0.560903 0.6064 0.621 0.7334 0.416 0.5256 0.59 0.63 0.73 0.42 0.6019 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 3.969787 3.969787 NA 0.599176 0.458223 ID=COSN164899;OCCURENCE=1(NS),1(lung) 0.572 NA 4.192524 1241 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 1241 6 32945530 32945530 G C intronic BRD2 NA NA NA intronic ENSG00000204256 NA NA NA NA NA 6p21.32 NA Name=ZNF263,Pol2(b),Pol2(phosphoS2),Pol2,Pol2-4H8 Name=6 NA rs3097644 0.97 0.97 0.973 0.979832 0.9394 0.995 0.9769 0.9939 0.9888 0.94 0.99 0.97 0.99 0.9512 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 -1.341263 NA NA 0.917097 0.982439 NA 0.957 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081253.1;CLNDSDB=.;CLNDSDBID=. 4.192303 1241 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 1241 7 100867295 100867295 A G UTR3 ZNHIT1 NM_006349:c.*56A>G NA NA UTR3 ENSG00000106400 ENST00000305105:c.*56A>G NA NA NA NA 7q22.1 NA NA NA NA rs12410 0.04 0.04 0.029 0.0365415 0.0686 NA 0.049 0.0545 0.0082 0.07 NA 0.06 0.05 NA 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 0.033236 NA NA 0.072596 0.049855 NA 0.138 NA 4.1921374 1241 7 142139773 142139773 C T intergenic LOC730441,MTRNR2L6 dist=167705;dist=234358 NA NA UTR5 ENSG00000211727 ENST00000390374:c.-3G>A NA NA NA NA 7q34 NA Name=Egr-1 NA NA rs361372 0.18 0.18 0.165 0.166134 0.2117 0.3075 0.2133 0.0151 0.1442 0.22 0.27 0.18 0.02 0.2067 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.936063 NA NA 0.223176 0.0425 NA 0.217 NA 4.1917574 1241 19 18685964 18685964 G T UTR3 UBA52 NM_003333:c.*4G>T,NM_001033930:c.*4G>T NA NA exonic ENSG00000221983 NA synonymous SNV ENSG00000221983:ENST00000594527:exon4:c.G270T:p.V90V NA NA 19p13.11 NA Name=CTCF_(SC-5916) NA NA rs6554 0.71 0.71 0.715 0.701278 0.5954 0.6915 0.6441 0.9667 0.502 0.6 0.69 0.62 0.96 0.6163 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 0.216704 NA NA 0.596744 0.907853 NA 0.688 NA 4.191556 1241 6 161152294 161152294 A G intronic PLG NA NA NA intronic ENSG00000122194 NA NA NA NA NA 6q26 NA Name=CTCF NA NA rs4252126 0.14 0.14 0.131 0.11901 0.2962 NA 0.1729 0.0756 0.0798 0.28 NA 0.2 0.07 0.2105 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111099 NA NA 0.302558 0.109169 NA 0.217 NA 4.190742 1241 5 1216775 1216775 A G exonic SLC6A19 NA synonymous SNV SLC6A19:NM_001003841:exon7:c.A990G:p.T330T exonic ENSG00000174358 NA nonsynonymous SNV ENSG00000174358:ENST00000515652:exon7:c.A898G:p.T300A NA NA 5p15.33 NA NA NA NA rs4975629 0.86 0.86 0.881 0.840056 0.9563 0.6825 0.8573 0.8835 0.8119 0.95 0.72 0.89 0.87 0.9028 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 -1.676104 NA 1 0.950814 0.881298 ID=COSM149780;OCCURENCE=1(stomach) 0.899 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118392.2;CLNDSDB=.;CLNDSDBID=. 4.190086 1241 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 1241 11 613165 613165 G C intronic IRF7 NA NA NA intronic ENSG00000185507 NA NA NA NA NA 11p15.5 NA Name=Pol2-4H8 NA NA rs1051390 0.28 0.28 0.283 0.275559 0.2674 0.0208 0.3026 0.5847 0.1094 0.26 0.01 0.34 0.57 0.2547 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.955631 NA NA 0.288837 0.521422 NA 0.217 NA 4.189063 1241 19 44611066 44611066 T C exonic ZNF224 NA synonymous SNV ZNF224:NM_013398:exon6:c.T753C:p.H251H exonic ENSG00000267680 NA synonymous SNV ENSG00000267680:ENST00000336976:exon6:c.T753C:p.H251H NA NA 19q13.31 NA Name=SETDB1 NA NA rs7508149 0.68 0.68 0.658 0.659545 0.8559 0.5317 0.5605 0.5825 0.7638 0.85 0.53 0.63 0.62 0.7623 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 -0.387746 NA NA 0.859419 0.62483 NA 0.783 NA 4.1890476 1241 19 9084183 9084183 G A exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon1:c.C7632T:p.P2544P exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon1:c.C7632T:p.P2544P NA NA 19p13.2 NA NA NA NA rs1609460 0.43 0.43 0.407 0.416334 0.4831 0.3264 0.5677 0.3411 0.4346 0.49 0.36 0.55 0.33 0.4874 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.131083 NA NA 0.507431 0.332229 NA 0.435 NA 4.1887356 1241 1 9011722 9011722 G T intronic CA6 NA NA NA exonic ENSG00000131686 NA nonsynonymous SNV ENSG00000131686:ENST00000319474:exon3:c.G500T:p.R167L,ENSG00000131686:ENST00000480186:exon3:c.G500T:p.R167L NA NA 1p36.23 NA NA NA NA rs3765966 0.72 0.72 0.739 0.723243 0.6581 0.8036 0.572 0.8253 0.6769 0.64 0.8 0.64 0.81 0.6596 0.81 0.21 T . . . . . . 1.000 P . . 1.35 T -1.051 T 0.000 T 0.086 -2.087 0.006 0.778 -0.185 -0.410 3.644 -2.086655 NA 0 0.660472 0.803082 NA 0.652 NA 4.1884947 1241 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 1241 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 1241 9 441952 441952 G A exonic DOCK8 NA synonymous SNV DOCK8:NM_001190458:exon40:c.G5133A:p.E1711E,DOCK8:NM_001193536:exon41:c.G5229A:p.E1743E,DOCK8:NM_203447:exon42:c.G5433A:p.E1811E exonic ENSG00000107099 NA synonymous SNV ENSG00000107099:ENST00000382329:exon29:c.G3834A:p.E1278E,ENSG00000107099:ENST00000469391:exon40:c.G5133A:p.E1711E,ENSG00000107099:ENST00000432829:exon42:c.G5229A:p.E1743E,ENSG00000107099:ENST00000453981:exon42:c.G5433A:p.E1811E Score=644;Name=lod=554 NA 9p24.3 NA NA NA NA rs1887957 0.83 0.83 0.819 0.803914 0.8439 0.994 0.8674 0.5809 0.8231 0.84 1 0.85 0.58 0.8201 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.792809 NA NA 0.815349 0.601453 NA 0.754 NA 4.1873176 1241 7 128312450 128312450 C T UTR5 FAM71F2 NM_001128926:c.-2C>T,NM_001012454:c.-2C>T NA NA UTR5 ENSG00000205085 ENST00000378704:c.-2C>T,ENST00000480462:c.-2C>T,ENST00000474069:c.-2C>T,ENST00000434001:c.-2C>T,ENST00000477515:c.-2C>T NA NA Score=572;Name=lod=282 NA 7q32.1 NA NA NA NA rs11769769 0.36 0.36 0.341 0.358427 0.3728 0.3581 0.4308 0.2481 0.4417 0.38 0.4 0.4 0.26 0.4203 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.239056 3.239056 NA 0.353041 0.247352 ID=COSN168191;OCCURENCE=1(large_intestine) 0.304 NA 4.1871924 1241 19 48543862 48543862 G A exonic CABP5 NA synonymous SNV CABP5:NM_019855:exon3:c.C238T:p.L80L exonic ENSG00000105507 NA synonymous SNV ENSG00000105507:ENST00000293255:exon3:c.C238T:p.L80L Score=604;Name=lod=379 NA 19q13.33 NA NA NA NA rs8105198 0.8 0.8 0.791 0.786741 0.8509 0.8681 0.8329 0.6415 0.8006 0.84 0.85 0.81 0.66 0.8134 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 1.411728 1.411728 NA 0.815581 0.684067 NA 0.797 NA 4.1867856 1241 12 122296784 122296784 C T intronic HPD NA NA NA intronic ENSG00000158104 NA NA NA NA NA 12q24.31 NA Name=HSF1,PGC1A,TBP,Pol2,HEY1,TAF1 NA NA rs3741591 0.37 0.37 0.341 0.336062 0.3996 0.5784 0.4207 0.0401 0.3609 0.4 0.56 0.42 0.06 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 0.413267 NA NA 0.413891 0.093208 NA 0.319 NA 4.186509 1241 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 1241 5 150945931 150945931 C T exonic FAT2 NA synonymous SNV FAT2:NM_001447:exon1:c.G2562A:p.R854R exonic ENSG00000086570 NA synonymous SNV ENSG00000086570:ENST00000261800:exon1:c.G2562A:p.R854R NA NA 5q33.1 NA NA NA NA rs3734058 0.45 0.45 0.426 0.419529 0.4901 0.3562 0.4539 0.441 0.3589 0.5 0.37 0.46 0.49 0.4679 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080246 NA NA 0.523023 0.444394 NA 0.435 NA 4.1856436 1241 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 1242 5 147204192 147204192 G A UTR3 SPINK1 NM_003122:c.*32C>T NA NA UTR3 ENSG00000164266 ENST00000296695:c.*32C>T NA NA NA NA 5q32 NA NA NA NA rs11319 0.07 0.07 0.052 0.0922524 0.0408 0.1012 0.1758 0.0106 0.1871 0.05 0.11 0.12 0.01 0.0773 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 0.317552 NA NA 0.030465 0.018157 ID=COSN167592;OCCURENCE=1(large_intestine) 0.065 NA 4.1847684 1242 6 160468278 160468278 A G exonic IGF2R NA synonymous SNV IGF2R:NM_000876:exon16:c.A2139G:p.T713T exonic ENSG00000197081 NA synonymous SNV ENSG00000197081:ENST00000356956:exon16:c.A2139G:p.T713T NA NA 6q25.3 NA NA NA NA rs998075 0.57 0.57 0.571 0.577476 0.4841 0.6925 0.4899 0.6384 0.5348 0.49 0.71 0.49 0.6 0.5299 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799941 NA NA 0.468023 0.611666 NA 0.681 NA 4.1846436 1242 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(b),Pol2(phosphoS2) 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 1242 14 22978335 22978335 C T intergenic OR4E2,DAD1 dist=844097;dist=55472 NA NA exonic ENSG00000211857 NA unknown UNKNOWN NA NA 14q11.2 Score=714;Name=V$HOX13_01 Name=Pol2,Pol2-4H8,TBP Name=11 NA rs226997 0.97 0.97 0.967 0.954872 0.997 1 0.9841 0.8396 1 1 1 0.98 0.87 0.987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.938756 NA NA 0.999287 0.865114 NA 0.949 NA 4.1833797 1242 1 18023290 18023290 C T intronic ARHGEF10L NA NA NA intronic ENSG00000074964 NA NA NA NA NA 1p36.13 NA Name=CTCF NA NA rs2270979 0.77 0.77 0.747 0.785743 0.8171 0.8363 0.8689 0.5885 0.909 0.8 0.83 0.86 0.6 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 0.53428 NA NA NA NA NA 0.797 NA 4.1829 1242 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 1242 1 18023509 18023509 T C exonic ARHGEF10L NA synonymous SNV ARHGEF10L:NM_001011722:exon27:c.T3357C:p.D1119D,ARHGEF10L:NM_018125:exon29:c.T3474C:p.D1158D exonic ENSG00000074964 NA synonymous SNV ENSG00000074964:ENST00000167825:exon18:c.T2583C:p.D861D,ENSG00000074964:ENST00000375408:exon20:c.T2793C:p.D931D,ENSG00000074964:ENST00000375415:exon27:c.T3357C:p.D1119D,ENSG00000074964:ENST00000452522:exon28:c.T3357C:p.D1119D,ENSG00000074964:ENST00000361221:exon29:c.T3474C:p.D1158D NA NA 1p36.13 NA NA Name=5 NA rs2270977 0.82 0.82 0.769 0.834665 0.8171 0.8988 0.8775 0.7186 0.9131 0.8 0.9 0.87 0.74 0.8351 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 -1.407944 NA NA 0.832012 0.755703 NA 0.804 NA 4.1824546 1242 14 104194278 104194278 C T intronic ZFYVE21 NA NA NA intronic ENSG00000100711 NA NA NA NA NA 14q32.33 NA Name=CTCF Name=9 NA rs1535099 0.52 0.52 0.556 0.53734 0.6252 0.3194 0.4467 0.5688 0.6933 0.62 0.37 0.5 0.57 0.5913 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341988 NA NA 0.60149 0.566757 NA 0.565 NA 4.18201 1242 2 27589810 27589810 T C intronic EIF2B4 NA NA NA ncRNA_intronic ENSG00000234072 NA NA NA NA NA 2p23.3 NA NA NA NA rs2280737 0.34 0.34 0.341 0.383387 0.3688 0.1657 0.4597 0.5053 0.4039 0.38 0.13 0.4 0.5 0.3986 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.339339 NA NA 0.383953 0.478212 NA 0.536 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081778.1;CLNDSDB=.;CLNDSDBID=. 4.1819803 1242 12 76449900 76449900 T C exonic NAP1L1 NA synonymous SNV NAP1L1:NM_004537:exon7:c.A471G:p.K157K,NAP1L1:NM_139207:exon7:c.A471G:p.K157K exonic ENSG00000187109 NA synonymous SNV ENSG00000187109:ENST00000552147:exon4:c.A354G:p.K118K,ENSG00000187109:ENST00000431879:exon5:c.A267G:p.K89K,ENSG00000187109:ENST00000547773:exon5:c.A282G:p.K94K,ENSG00000187109:ENST00000548273:exon5:c.A348G:p.K116K,ENSG00000187109:ENST00000552056:exon5:c.A453G:p.K151K,ENSG00000187109:ENST00000542344:exon6:c.A345G:p.K115K,ENSG00000187109:ENST00000548044:exon6:c.A348G:p.K116K,ENSG00000187109:ENST00000550934:exon6:c.A390G:p.K130K,ENSG00000187109:ENST00000261182:exon7:c.A471G:p.K157K,ENSG00000187109:ENST00000393263:exon7:c.A471G:p.K157K,ENSG00000187109:ENST00000535020:exon7:c.A471G:p.K157K,ENSG00000187109:ENST00000547704:exon7:c.A492G:p.K164K,ENSG00000187109:ENST00000549596:exon7:c.A471G:p.K157K,ENSG00000187109:ENST00000551600:exon7:c.A489G:p.K163K,ENSG00000187109:ENST00000551992:exon7:c.A471G:p.K157K,ENSG00000187109:ENST00000552342:exon8:c.A504G:p.K168K Score=697;Name=lod=904 NA 12q21.2 NA NA NA NA rs1059143 0.89 0.89 0.884 0.920128 0.8062 0.999 0.8631 0.9599 0.9427 0.8 1 0.83 0.95 0.865 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.025435 NA NA 0.813794 0.941644 NA 0.855 NA 4.1816726 1242 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 1242 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 1242 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 1242 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 1242 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 1242 20 49621149 49621149 T C exonic KCNG1 NA synonymous SNV KCNG1:NM_002237:exon3:c.A969G:p.A323A exonic ENSG00000026559 NA synonymous SNV ENSG00000026559:ENST00000371571:exon3:c.A969G:p.A323A NA NA 20q13.13 NA NA Name=2 NA rs6122993 0.68 0.68 0.663 0.650759 0.8529 0.6587 0.8386 0.3336 0.7301 0.85 0.65 0.82 0.34 0.7885 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 0.622436 NA NA 0.844897 0.450459 NA 0.464 NA 4.1803696 1242 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 1242 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 1242 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 1242 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 1242 9 86893071 86893071 T C UTR3 SLC28A3 NM_022127:c.*62A>G,NM_001199633:c.*62A>G NA NA UTR3 ENSG00000197506 ENST00000376238:c.*62A>G,ENST00000537648:c.*62A>G NA NA NA NA 9q21.32 NA NA NA NA rs7858075 0.19 0.19 0.164 0.204673 0.1541 0.1558 0.2305 0.3427 0.1022 0.15 0.12 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 0.467397 NA NA NA NA NA 0.268 NA 4.1792334 1242 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 1242 15 30008889 30008889 G A exonic TJP1 NA synonymous SNV TJP1:NM_175610:exon22:c.C3888T:p.A1296A,TJP1:NM_003257:exon23:c.C4128T:p.A1376A exonic ENSG00000104067 NA synonymous SNV ENSG00000104067:ENST00000545208:exon22:c.C3888T:p.A1296A,ENSG00000104067:ENST00000346128:exon23:c.C4128T:p.A1376A,ENSG00000104067:ENST00000356107:exon23:c.C4128T:p.A1376A,ENSG00000104067:ENST00000400011:exon23:c.C3900T:p.A1300A Score=391;Name=lod=52 NA 15q13.1 NA NA NA NA rs2229518 0.8 0.8 0.784 0.786741 0.8241 0.8641 0.8242 0.6437 0.8354 0.82 0.88 0.83 0.65 0.8285 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 0.344029 NA NA 0.835839 0.697501 NA 0.659 NA 4.1782276 1242 4 75938236 75938236 A G exonic PARM1 NA synonymous SNV PARM1:NM_015393:exon2:c.A645G:p.V215V exonic ENSG00000169116 NA synonymous SNV ENSG00000169116:ENST00000307428:exon2:c.A645G:p.V215V NA NA 4q13.3 NA NA NA NA rs1062293 0.4 0.4 0.412 0.413738 0.5338 0.2143 0.3473 0.4244 0.5286 0.55 0.22 0.36 0.41 0.4586 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035136 NA NA 0.496697 0.428504 ID=COSM149693;OCCURENCE=1(stomach) 0.341 NA 4.1775696 1242 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 1242 1 8928125 8928125 G T intronic ENO1 NA NA NA intronic ENSG00000074800 NA NA NA NA NA 1p36.23 NA Name=Pol2-4H8,Pol2 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 1242 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 1242 15 90774259 90774259 G C intronic CIB1 NA NA NA intronic ENSG00000185043 NA NA NA NA NA 15q26.1 NA Name=Pol2-4H8,Pol2 NA NA rs1044813 0.36 0.36 0.324 0.396565 0.2604 0.6935 0.4496 0.177 0.4898 0.25 0.64 0.36 0.18 0.3253 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.048028 NA NA 0.237901 0.192133 NA 0.145 NA 4.176399 1242 15 42287578 42287578 G A exonic PLA2G4E NA synonymous SNV PLA2G4E:NM_001206670:exon12:c.C1227T:p.T409T exonic ENSG00000188089 NA synonymous SNV ENSG00000188089:ENST00000413860:exon11:c.C1140T:p.T380T,ENSG00000188089:ENST00000399518:exon12:c.C1227T:p.T409T NA NA 15q15.1 Score=855;Name=V$CREBP1_Q2 NA NA NA rs1668586 0.68 0.68 0.679 0.658347 0.8479 0.5704 0.6816 0.5083 0.7403 0.84 0.57 0.74 0.5 0.7695 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 0.795464 NA NA 0.873246 0.586326 NA 0.71 NA 4.1760206 1242 6 31914935 31914935 A G exonic CFB NA synonymous SNV CFB:NM_001710:exon3:c.A450G:p.R150R exonic ENSG00000243649,ENSG00000244255 NA synonymous SNV ENSG00000243649:ENST00000425368:exon3:c.A450G:p.R150R,ENSG00000244255:ENST00000477310:exon13:c.A1503G:p.R501R,ENSG00000244255:ENST00000456570:exon15:c.A1956G:p.R652R,ENSG00000243649:ENST00000556679:exon15:c.A1956G:p.R652R Score=414;Name=lod=64 NA 6p21.33 NA NA NA NA rs1048709 0.83 0.83 0.847 0.855431 0.8479 0.6974 0.7824 0.9871 0.8998 0.84 0.7 0.8 0.97 0.8305 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 0.954254 NA NA 0.812477 0.955328 NA 0.906 NA 4.1757896 1242 10 134013990 134013990 G A exonic DPYSL4 NA synonymous SNV DPYSL4:NM_006426:exon9:c.G942A:p.A314A exonic ENSG00000151640 NA synonymous SNV ENSG00000151640:ENST00000368627:exon6:c.G642A:p.A214A,ENSG00000151640:ENST00000368629:exon8:c.G642A:p.A214A,ENSG00000151640:ENST00000338492:exon9:c.G942A:p.A314A NA NA 10q26.3 Score=737;Name=V$PAX4_04 NA NA NA rs2247705 0.85 0.85 0.833 0.854633 0.8131 0.9286 0.8862 0.8003 0.8722 0.81 0.92 0.87 0.79 0.8508 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 -1.030087 NA NA 0.827326 0.804585 NA 0.826 NA 4.1754406 1242 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 1242 19 38996623 38996623 T G intronic RYR1 NA NA NA intronic ENSG00000196218 NA NA NA NA NA 19q13.2 NA NA NA NA rs2960343 0.35 0.35 0.246 0.405751 0.2982 0.3532 0.366 0.4856 0.4908 0.31 0.32 0.34 0.46 0.3184 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008597 NA NA 0.208107 0.355239 ID=COSN165800;OCCURENCE=1(NS) 0.319 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000119751.1;CLNDSDB=.;CLNDSDBID=. 4.175293 1242 3 191179193 191179193 A G exonic PYDC2 NA nonsynonymous SNV PYDC2:NM_001083308:exon1:c.A242G:p.Q81R exonic ENSG00000253548 NA nonsynonymous SNV ENSG00000253548:ENST00000518817:exon1:c.A242G:p.Q81R NA NA 3q28 NA NA NA NA rs293833 0.64 0.64 0.655 0.629992 0.7256 0.4196 0.6268 0.7534 0.5838 0.74 0.41 0.66 0.75 0.6885 0.78 1 T 0.0 B 0.0 B . . 1.000 P . . 0.83 T -0.958 T 0.000 T 0.015 -2.668 0 -0.631 -0.282 0.934 . -2.667632 NA NA 0.743982 0.775244 NA 0.688 NA 4.1752514 1242 9 123631642 123631642 G C intronic PHF19 NA NA NA intronic ENSG00000119403 NA NA NA NA NA 9q33.2 NA Name=PAX5-N19,SMC3_(ab9263),YY1_(C-20),Max,Rad21,PAX5-C20,CTCF_(C-20),Pol2-4H8,CTCF_(SC-5916),ELF1_(SC-631),CHD2_(N-1250),CTCF Name=141 NA rs3753029 0.5 0.5 0.474 0.510383 0.6093 0.498 0.6873 0.1649 0.7628 0.62 0.48 0.65 0.22 0.608 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.416035 1.416035 NA 0.607526 0.234226 NA 0.478 NA 4.175174 1243 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 1243 17 11786951 11786951 T C exonic DNAH9 NA synonymous SNV DNAH9:NM_001372:exon56:c.T10855C:p.L3619L exonic ENSG00000007174 NA synonymous SNV ENSG00000007174:ENST00000262442:exon56:c.T10855C:p.L3619L,ENSG00000007174:ENST00000454412:exon56:c.T10855C:p.L3619L NA NA 17p12 NA NA NA NA rs8070256 0.39 0.39 0.354 0.385982 0.5278 0.4643 0.3674 0.1256 0.5245 0.51 0.44 0.41 0.14 0.4528 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.239347 NA NA 0.511744 0.199728 ID=COSM148195;OCCURENCE=1(stomach) 0.312 NA 4.1743226 1243 17 76491128 76491128 G C exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon39:c.C5955G:p.L1985L exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon39:c.C5913G:p.L1971L,ENSG00000187775:ENST00000585328:exon39:c.C5940G:p.L1980L Score=599;Name=lod=361 NA 17q25.3 NA NA NA NA rs606944 0.79 0.79 0.9 0.93131 0.8161 0.9712 0.8977 0.9932 0.9489 0.7 0.87 0.79 0.84 0.8634 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 0.780473 NA NA 0.813125 0.970646 NA NA NA 4.1740416 1243 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=TCF12,NRSF 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 1243 7 99796146 99796146 A C exonic STAG3 NA synonymous SNV STAG3:NM_012447:exon13:c.A1293C:p.P431P exonic ENSG00000066923 NA synonymous SNV ENSG00000066923:ENST00000394018:exon11:c.A1119C:p.P373P,ENSG00000066923:ENST00000317296:exon13:c.A1293C:p.P431P,ENSG00000066923:ENST00000426455:exon13:c.A1293C:p.P431P NA NA 7q22.1 NA NA NA NA rs3735241 0.52 0.52 0.487 0.5 0.498 0.6815 0.6254 0.3654 0.408 0.5 0.65 0.54 0.36 0.4975 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.770934 NA NA 0.497791 0.412165 NA 0.507 NA 4.1733756 1243 6 99883515 99883515 G C UTR3 USP45 NM_001080481:c.*77C>G NA NA UTR3 ENSG00000123552 ENST00000392738:c.*77C>G,ENST00000500704:c.*77C>G,ENST00000496518:c.*1488C>G,ENST00000327681:c.*77C>G,ENST00000539675:c.*77C>G,ENST00000369233:c.*77C>G NA NA NA NA 6q16.2 NA NA NA NA rs13208607 0.08 0.08 0.053 0.0571086 0.16 0.001 0.1369 0.0038 0.0245 0.15 0.0017 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 -1.319695 NA NA NA NA NA 0.036 NA 4.1733334 1243 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 1243 15 81636267 81636267 C T exonic TMC3 NA synonymous SNV TMC3:NM_001080532:exon14:c.G1638A:p.E546E exonic ENSG00000188869 NA synonymous SNV ENSG00000188869:ENST00000359440:exon14:c.G1638A:p.E546E,ENSG00000188869:ENST00000558726:exon14:c.G1641A:p.E547E Score=589;Name=lod=330 NA 15q25.1 NA NA NA NA rs7161991 0.82 0.82 0.825 0.752995 0.8479 0.7232 0.7075 0.9002 0.5194 0.85 0.72 0.77 0.91 0.7866 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 0.319969 NA NA 0.859135 0.893279 NA 0.768 NA 4.1730316 1243 11 132177633 132177633 A C exonic NTM NA synonymous SNV NTM:NM_001144058:exon4:c.A577C:p.R193R,NTM:NM_001144059:exon4:c.A577C:p.R193R,NTM:NM_016522:exon4:c.A577C:p.R193R,NTM:NM_001048209:exon5:c.A577C:p.R193R exonic ENSG00000182667 NA synonymous SNV ENSG00000182667:ENST00000374784:exon4:c.A577C:p.R193R,ENSG00000182667:ENST00000374786:exon4:c.A577C:p.R193R,ENSG00000182667:ENST00000425719:exon4:c.A577C:p.R193R,ENSG00000182667:ENST00000374791:exon5:c.A577C:p.R193R,ENSG00000182667:ENST00000427481:exon5:c.A550C:p.R184R,ENSG00000182667:ENST00000539799:exon5:c.A577C:p.R193R,ENSG00000182667:ENST00000550167:exon6:c.A550C:p.R184R Score=583;Name=lod=312 NA 11q25 NA NA NA NA rs2305271 0.88 0.88 0.887 0.880591 0.8211 0.9266 0.8991 0.9123 0.8384 0.83 0.93 0.9 0.9 0.8463 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 1.608682 1.608682 NA 0.826623 0.907088 NA 0.92 NA 4.1726436 1243 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 1243 1 19651102 19651102 A G intronic PQLC2 NA NA NA intronic ENSG00000040487 NA NA NA NA NA 1p36.13 NA NA Name=3 NA rs41264067 0.19 0.19 0.183 0.222045 0.2873 0.0833 0.1916 0.2148 0.3292 0.28 0.06 0.21 0.2 0.2514 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.012852 NA NA 0.288721 0.232183 NA 0.326 NA 4.172579 1243 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 1243 3 14190237 14190237 T G intronic XPC NA NA NA intronic ENSG00000154767 NA NA NA NA NA 3p25.1 NA Name=TBP,Rad21,c-Myc,CTCF_(SC-5916),CTCF 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 1243 1 157771880 157771880 C T exonic FCRL1 NA synonymous SNV FCRL1:NM_001159397:exon5:c.G711A:p.P237P,FCRL1:NM_001159398:exon5:c.G711A:p.P237P,FCRL1:NM_052938:exon5:c.G711A:p.P237P exonic ENSG00000163534 NA synonymous SNV ENSG00000163534:ENST00000358292:exon5:c.G711A:p.P237P,ENSG00000163534:ENST00000368176:exon5:c.G711A:p.P237P,ENSG00000163534:ENST00000491942:exon5:c.G711A:p.P237P NA NA 1q23.1 NA NA NA NA rs4971154 0.42 0.42 0.377 0.389577 0.493 0.5238 0.5072 0.0643 0.501 0.5 0.56 0.47 0.07 0.4879 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.279088 NA NA 0.514651 0.135043 NA 0.399 NA 4.1711156 1243 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 1243 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 1243 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 1243 X 71379702 71379702 T C exonic FLJ44635 NA nonsynonymous SNV FLJ44635:NM_207422:exon2:c.T23C:p.I8T ncRNA_exonic ENSG00000225471 NA NA NA NA NA Xq13.1 NA NA NA NA rs7884806 0.42 0.42 0.42051 NA NA NA NA NA NA 0.73 0.04 0.55 0.27 0.5932 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390198 NA NA 0.737768 0.314956 NA 0.254 NA 4.169032 1243 20 62187439 62187439 T C exonic C20orf195 NA synonymous SNV C20orf195:NM_024059:exon2:c.T423C:p.D141D exonic ENSG00000125531 NA synonymous SNV ENSG00000125531:ENST00000370097:exon2:c.T423C:p.D141D,ENSG00000125531:ENST00000370098:exon2:c.T423C:p.D141D NA NA 20q13.33 NA NA NA NA rs734750 0.65 0.65 0.625 0.683706 0.4712 0.9067 0.6196 0.6188 0.8057 0.48 0.93 0.58 0.62 0.5716 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 -1.092389 NA NA 0.454884 0.568997 NA 0.384 NA 4.1689826 1243 15 90809633 90809633 G A intronic NGRN NA NA NA intronic ENSG00000182768,ENSG00000261147 NA NA NA Score=474;Name=lod=113 NA 15q26.1 NA Name=Pol2,YY1_(C-20),YY1,AP-2gamma Name=148 NA rs9635390 0.92 0.92 0.912 0.91853 0.9513 0.8641 0.9352 0.9977 0.8221 0.94 0.83 0.93 1 0.9263 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179987 NA NA 0.953699 0.990218 NA 0.891 NA 4.168701 1243 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 1243 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 1243 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 1243 14 50065717 50065717 G C UTR5 LRR1 NM_152329:c.-22G>C,NM_203467:c.-22G>C NA NA UTR5 ENSG00000165501,ENSG00000253459 ENST00000298288:c.-22G>C,ENST00000318317:c.-22G>C,ENST00000554869:c.-22G>C,ENST00000540712:c.-22G>C;ENST00000539688:c.-137C>G NA NA NA NA 14q21.3 NA Name=HA-E2F1,Pol2(phosphoS2),Pol2,E2F6_(H-50),E2F6,TAF7_(SQ-8),Pol2-4H8,NFKB,TAF1,E2F1,ETS1,HEY1,ELF1_(SC-631),c-Myc,YY1_(C-20),Max,TCF4,E2F4,Sin3Ak-20,YY1,TBP,Pol2(b) Name=145 NA rs2281836 0.58 0.58 0.577 0.565895 0.7416 0.1687 0.6571 0.7247 0.5153 0.74 0.18 0.68 0.71 0.6822 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.831048 NA NA 0.742326 0.735695 NA 0.551 NA 4.1672074 1243 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 1243 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 1243 7 100553077 100553077 A C intergenic ACHE,MUC12 dist=59536;dist=59827 NA NA intronic ENSG00000169894 NA NA NA NA NA 7q22.1 NA Name=CTCF NA NA rs73714270 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 0.136646 NA NA NA NA NA 0.493 NA 4.1667667 1243 15 65449169 65449169 C T intronic CLPX NA NA NA UTR3 ENSG00000166855 ENST00000559152:c.*240G>A NA NA Score=721;Name=lod=1139 NA 15q22.31 NA NA Name=9 NA rs2946670 1 1 1 1 1 1 1 1 1 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 2.543964 2.543964 NA NA NA NA 1 NA 4.1666667 1243 3 155271825 155271825 G A intronic PLCH1 NA NA NA intronic ENSG00000114805 NA NA NA NA NA 3q25.31 NA Name=CTCF,Pol2,c-Myc,Max Name=23 NA rs359549 0.42 0.42 0.418 0.345647 0.6511 0.2798 0.4697 0.1263 0.3078 0.65 0.29 0.54 0.15 0.5282 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601338 NA NA 0.654186 0.214253 NA 0.355 NA 4.166514 1243 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 1243 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 1243 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 1243 17 78055758 78055758 T G exonic CCDC40 NA synonymous SNV CCDC40:NM_001243342:exon12:c.T1890G:p.A630A,CCDC40:NM_017950:exon12:c.T1890G:p.A630A exonic ENSG00000141519 NA synonymous SNV ENSG00000141519:ENST00000374877:exon12:c.T1890G:p.A630A,ENSG00000141519:ENST00000397545:exon12:c.T1890G:p.A630A NA NA 17q25.3 NA NA NA NA rs35578653 0.46 0.46 0.422 0.464257 0.5219 0.2927 0.428 0.6074 0.4141 0.52 0.3 0.43 0.58 0.4887 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.318002 NA NA 0.490376 0.581708 NA 0.442 NA 4.1656906 1243 22 36657789 36657789 T C intronic APOL1 NA NA NA intronic ENSG00000100342 NA NA NA NA NA 22q12.3 NA Name=CTCF,Pol2(b) Name=10 NA rs136164 0.65 0.65 0.636 0.665136 0.5905 0.7728 0.7248 0.5719 0.7147 0.58 0.77 0.7 0.56 0.6458 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 -0.504872 NA NA 0.59814 0.54562 NA 0.703 NA 4.16556 1243 18 3067278 3067278 A G exonic MYOM1 NA synonymous SNV MYOM1:NM_019856:exon37:c.T4752C:p.G1584G,MYOM1:NM_003803:exon38:c.T5040C:p.G1680G exonic ENSG00000101605 NA synonymous SNV ENSG00000101605:ENST00000261606:exon37:c.T4752C:p.G1584G,ENSG00000101605:ENST00000356443:exon38:c.T5040C:p.G1680G,ENSG00000101605:ENST00000400569:exon38:c.T5040C:p.G1680G NA NA 18p11.31 NA NA NA NA rs2230164 0.57 0.57 0.548 0.594449 0.4652 0.5308 0.4207 0.8533 0.5665 0.49 0.55 0.42 0.83 0.5696 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 0.237214 NA NA 0.466448 0.775379 ID=COSM1388527;OCCURENCE=1(large_intestine) 0.486 NA 4.1654186 1243 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 1243 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 1243 1 45524213 45524213 C T intronic ZSWIM5 NA NA NA intronic ENSG00000162415 NA NA NA NA NA 1p34.1 NA NA Name=2 NA rs3738246 0.86 0.86 0.873 0.880791 0.835 0.869 0.8588 0.8956 0.9356 0.84 0.88 0.85 0.88 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 0.547347 NA NA NA NA NA 0.891 NA 4.165 1244 7 142176329 142176329 G T intergenic LOC730441,MTRNR2L6 dist=204261;dist=197802 NA NA exonic ENSG00000253409 NA unknown UNKNOWN NA NA 7q34 NA NA NA NA rs376856573 NA NA NA 0.000199681 0.001 NA NA 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 1.310794 1.310794 NA 0.000599 0 NA NA NA 4.1647677 1244 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 1244 2 216198049 216198049 A G intronic ATIC NA NA NA intronic ENSG00000138363 NA NA NA NA NA 2q35 NA NA Name=2 NA rs10179873 0.18 0.18 0.179 0.139177 0.3191 0.001 0.1988 0.1399 0.0532 0.32 0.0017 0.22 0.14 0.2178 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.486897 NA NA 0.299302 0.184975 NA 0.217 NA 4.163798 1244 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 1244 15 51795172 51795172 G A exonic DMXL2 NA synonymous SNV DMXL2:NM_001174116:exon17:c.C2823T:p.N941N,DMXL2:NM_015263:exon17:c.C2823T:p.N941N exonic ENSG00000104093 NA synonymous SNV ENSG00000104093:ENST00000251076:exon17:c.C2823T:p.N941N,ENSG00000104093:ENST00000543779:exon17:c.C2823T:p.N941N NA NA 15q21.2 NA NA NA NA rs12592889 0.45 0.45 0.422 0.411342 0.5159 0.4077 0.4813 0.3011 0.407 0.52 0.45 0.47 0.32 0.4839 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.131302 NA NA 0.504076 0.35262 ID=COSM147909;OCCURENCE=1(stomach) 0.312 NA 4.1627906 1244 12 101018014 101018014 T C exonic GAS2L3 NA synonymous SNV GAS2L3:NM_174942:exon10:c.T1431C:p.N477N exonic ENSG00000139354 NA synonymous SNV ENSG00000139354:ENST00000552854:exon1:c.T522C:p.N174N,ENSG00000139354:ENST00000266754:exon9:c.T1431C:p.N477N,ENSG00000139354:ENST00000539410:exon9:c.T1431C:p.N477N,ENSG00000139354:ENST00000537247:exon10:c.T1119C:p.N373N,ENSG00000139354:ENST00000547754:exon10:c.T1431C:p.N477N NA NA 12q23.1 NA NA NA NA rs1045602 0.38 0.38 0.375 0.33766 0.5338 0.2748 0.3818 0.2685 0.2628 0.51 0.26 0.42 0.27 0.4353 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.560449 NA NA 0.534892 0.294371 ID=COSM147585;OCCURENCE=1(stomach) 0.406 NA 4.1626746 1244 6 32427789 32427789 T C intergenic HLA-DRA,HLA-DRB5 dist=14963;dist=57365 NA NA ncRNA_exonic ENSG00000196301 NA NA NA NA NA 6p21.32 NA Name=HA-E2F1,Pol2,c-Myc Name=6 NA rs9268832 0.59 0.59 0.576 0.603435 0.6292 0.5407 0.6916 0.5802 0.6104 0.61 0.58 0.67 0.51 0.6085 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 -0.10212 NA NA 0.599699 0.568493 NA 0.645 NA 4.162601 1244 5 82835545 82835545 A G exonic VCAN NA synonymous SNV VCAN:NM_001164097:exon7:c.A3762G:p.R1254R,VCAN:NM_004385:exon8:c.A6723G:p.R2241R exonic ENSG00000038427 NA synonymous SNV ENSG00000038427:ENST00000343200:exon7:c.A3762G:p.R1254R,ENSG00000038427:ENST00000265077:exon8:c.A6723G:p.R2241R NA NA 5q14.3 NA NA NA NA rs160279 0.49 0.49 0.494 0.470447 0.5249 0.3919 0.5288 0.5091 0.4018 0.52 0.42 0.54 0.48 0.4835 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.523713 NA NA 0.495698 0.499546 NA 0.435 NA 4.1625686 1244 17 3577146 3577146 C T ncRNA_UTR3 P2RX5 NA NA NA UTR3 ENSG00000083454 ENST00000225328:c.*16G>A,ENST00000547178:c.*16G>A,ENST00000551178:c.*16G>A,ENST00000345901:c.*16G>A,ENST00000552456:c.*161G>A,ENST00000552050:c.*16G>A NA NA NA NA 17p13.2 NA NA NA NA rs1063497 0.12 0.12 0.101 0.121006 0.1093 0.2222 0.1196 0.0068 0.184 0.11 0.23 0.09 0.01 0.125 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.333837 NA NA 0.103605 0.026782 NA 0.065 NA 4.162095 1244 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 1244 17 31268024 31268024 A T UTR3 TMEM98 NM_015544:c.*13A>T,NM_001033504:c.*13A>T NA NA UTR3 ENSG00000006042 ENST00000394642:c.*13A>T,ENST00000579849:c.*13A>T NA NA NA NA 17q11.2 NA NA NA NA rs28258 0.09 0.09 0.1 0.103235 0.0477 NA 0.0303 0.3094 0.0399 0.04 NA 0.03 0.31 0.0804 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.770168 2.770168 NA 0.04318 0.237608 NA 0.08 NA 4.1620534 1244 17 46868710 46868710 C T intronic TTLL6 NA NA NA intronic ENSG00000170703 NA NA NA NA NA 17q21.32 NA Name=AP-2gamma,PU.1,KAP1,CTCF 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 1244 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 1244 5 65317181 65317181 C T exonic ERBB2IP NA synonymous SNV ERBB2IP:NM_001006600:exon8:c.C565T:p.L189L,ERBB2IP:NM_001253697:exon8:c.C565T:p.L189L,ERBB2IP:NM_001253698:exon8:c.C565T:p.L189L,ERBB2IP:NM_001253699:exon8:c.C565T:p.L189L,ERBB2IP:NM_001253701:exon8:c.C565T:p.L189L,ERBB2IP:NM_018695:exon8:c.C565T:p.L189L exonic ENSG00000112851 NA synonymous SNV ENSG00000112851:ENST00000508515:exon7:c.C565T:p.L189L,ENSG00000112851:ENST00000284037:exon8:c.C565T:p.L189L,ENSG00000112851:ENST00000380935:exon8:c.C565T:p.L189L,ENSG00000112851:ENST00000380936:exon8:c.C565T:p.L189L,ENSG00000112851:ENST00000380938:exon8:c.C565T:p.L189L,ENSG00000112851:ENST00000380939:exon8:c.C565T:p.L189L,ENSG00000112851:ENST00000380943:exon8:c.C565T:p.L189L,ENSG00000112851:ENST00000416865:exon8:c.C565T:p.L189L,ENSG00000112851:ENST00000506030:exon8:c.C565T:p.L189L,ENSG00000112851:ENST00000511297:exon8:c.C565T:p.L189L Score=635;Name=lod=507 NA 5q12.3 NA NA NA NA rs706679 0.67 0.67 0.666 0.672125 0.8777 0.5357 0.67 0.4841 0.8569 0.87 0.55 0.7 0.48 0.7708 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 1.097123 NA NA 0.856478 0.52315 NA 0.696 NA 4.1616886 1244 1 86487914 86487914 C A intronic COL24A1 NA NA NA intronic ENSG00000171502 NA NA NA Score=551;Name=lod=231 NA 1p22.3 NA NA NA NA rs11161721 0.26 0.26 0.261 0.259585 0.2873 0.2688 0.3473 0.2254 0.2055 0.28 0.27 0.31 0.2 0.2655 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.957076 3.957076 NA 0.286008 0.223857 NA 0.246 NA 4.161192 1244 17 76178748 76178748 T C exonic TK1 NA synonymous SNV TK1:NM_003258:exon4:c.A225G:p.A75A exonic ENSG00000167900 NA synonymous SNV ENSG00000167900:ENST00000301634:exon4:c.A225G:p.A75A,ENSG00000167900:ENST00000405273:exon4:c.A225G:p.A75A,ENSG00000167900:ENST00000588734:exon4:c.A225G:p.A75A,ENSG00000167900:ENST00000590862:exon4:c.A225G:p.A75A,ENSG00000167900:ENST00000586613:exon5:c.A249G:p.A83A NA NA 17q25.3 NA NA NA NA rs1143697 0.64 0.64 0.626 0.682109 0.4523 0.622 0.6686 0.8707 0.7352 0.47 0.64 0.65 0.88 0.6099 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 1.263334 1.263334 NA 0.443333 0.822192 ID=COSM148352;OCCURENCE=1(stomach) 0.681 NA 4.1611336 1244 17 80280865 80280865 G A exonic SECTM1 NA synonymous SNV SECTM1:NM_003004:exon4:c.C426T:p.P142P exonic ENSG00000141574 NA synonymous SNV ENSG00000141574:ENST00000269389:exon4:c.C426T:p.P142P,ENSG00000141574:ENST00000581691:exon4:c.C426T:p.P142P,ENSG00000141574:ENST00000582563:exon5:c.C486T:p.P162P NA NA 17q25.3 NA NA NA NA rs11077986 0.4 0.4 0.384 0.327276 0.5328 0.5635 0.2795 0.034 0.3027 0.53 0.57 0.33 0.05 0.4526 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071706 NA NA 0.520237 0.115297 NA 0.239 NA 4.1610296 1244 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 1244 11 7509325 7509325 G A intronic OLFML1 NA NA NA ncRNA_intronic ENSG00000251364 NA NA NA NA NA 11p15.4 NA NA NA NA rs78697293 0.02 0.02 0.024 0.013778 0.0527 NA 0.0115 0.0023 0.0051 0.06 NA 0.02 0.01 0.0534 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 0.845149 NA NA 0.066387 0.014331 NA 0.051 NA 4.1608463 1244 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 1244 10 8093034 8093034 G T ncRNA_exonic GATA3-AS1 NA NA NA ncRNA_exonic ENSG00000197308 NA NA NA NA Name=Hodgkin's lymphoma 10p14 NA Name=HA-E2F1 NA NA rs501764 0.9 0.9 0.886 0.921526 0.8231 0.9891 0.9092 0.9365 0.9417 0.81 0.98 0.89 0.93 0.8674 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 -1.135427 NA NA 0.815648 0.919134 ID=COSM427973;OCCURENCE=1(breast) 0.739 NA 4.1605186 1244 7 6647738 6647738 T C exonic C7orf26 NA synonymous SNV C7orf26:NM_024067:exon6:c.T1296C:p.H432H exonic ENSG00000146576 NA synonymous SNV ENSG00000146576:ENST00000344417:exon6:c.T1296C:p.H432H,ENSG00000146576:ENST00000359073:exon7:c.T1005C:p.H335H Score=295;Name=lod=21 NA 7p22.1 NA NA NA NA rs4416743 0.78 0.78 0.799 0.754193 0.8658 0.5248 0.8314 0.9834 0.5112 0.85 0.49 0.86 0.97 0.7664 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 -0.838975 NA NA 0.874398 0.959367 NA 0.413 NA 4.1600686 1244 9 135273607 135273607 C G exonic TTF1 NA synonymous SNV TTF1:NM_001205296:exon3:c.G153C:p.L51L,TTF1:NM_007344:exon4:c.G1698C:p.L566L exonic ENSG00000125482 NA synonymous SNV ENSG00000125482:ENST00000334270:exon4:c.G1698C:p.L566L Score=437;Name=lod=80 NA 9q34.13 NA NA NA NA rs504525 0.74 0.74 0.711 0.71865 0.8529 0.7103 0.8199 0.5386 0.7607 0.86 0.72 0.83 0.52 0.7985 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 -1.193484 NA NA 0.855349 0.577848 NA 0.754 NA 4.1599176 1244 2 231407663 231407663 C T UTR3 SP100 NM_001080391:c.*2C>T NA NA ncRNA_UTR3 ENSG00000067066 NA NA NA NA NA 2q37.1 NA NA Name=20 NA rs9288668 0.32 0.32 0.291 0.343051 0.4553 0.2163 0.402 0.1573 0.5675 0.46 0.2 0.42 0.18 0.4295 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29967 NA NA 0.455539 0.197059 NA 0.246 NA 4.159661 1244 5 1216900 1216900 G A intronic SLC6A19 NA NA NA exonic ENSG00000174358 NA synonymous SNV ENSG00000174358:ENST00000515652:exon7:c.G1023A:p.P341P NA NA 5p15.33 NA NA NA NA rs35329108 0.23 0.23 0.241 0.21905 0.2256 0.1468 0.1988 0.3555 0.1166 0.22 0.16 0.22 0.34 0.2176 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.807498 NA NA 0.230814 0.32887 NA 0.283 NA 4.1593193 1244 3 49724808 49724808 T C exonic MST1 NA synonymous SNV MST1:NM_020998:exon4:c.A459G:p.P153P exonic ENSG00000173531 NA synonymous SNV ENSG00000173531:ENST00000383728:exon3:c.A234G:p.P78P,ENSG00000173531:ENST00000449682:exon4:c.A459G:p.P153P Score=437;Name=lod=80 NA 3p21.31 NA NA NA NA rs3020779 0.86 0.86 0.832 0.860224 0.834 0.9871 0.8573 0.7095 0.9622 0.84 1 0.86 0.72 0.8574 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785233 NA 0 0.81612 0.731956 NA 0.072 NA 4.1591466 1244 4 25253995 25253995 C T exonic PI4K2B NA synonymous SNV PI4K2B:NM_018323:exon2:c.C321T:p.A107A exonic ENSG00000038210 NA synonymous SNV ENSG00000038210:ENST00000264864:exon2:c.C321T:p.A107A,ENSG00000038210:ENST00000512921:exon2:c.C33T:p.A11A Score=493;Name=lod=134 NA 4p15.2 NA NA NA NA rs313567 0.79 0.79 0.79 0.789537 0.836 0.6806 0.8156 0.8033 0.817 0.83 0.69 0.82 0.81 0.8272 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 -0.822974 NA NA 0.844651 0.810032 NA 0.848 NA 4.1588156 1244 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 1244 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 1244 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 1244 20 37062583 37062583 T C ncRNA_exonic SNORA71D NA NA NA ncRNA_exonic ENSG00000200354 NA NA NA Score=410;Name=lod=62 NA 20q11.23 NA Name=ZNF263,Pol2(b) NA NA rs788347 0.79 0.79 0.78 0.778155 0.841 0.8988 0.8429 0.5817 0.8088 0.82 0.91 0.82 0.58 0.8269 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 2.700881 2.700881 NA 0.841537 0.631279 NA 0.812 NA 4.1572296 1244 17 55027850 55027850 T C exonic COIL NA synonymous SNV COIL:NM_004645:exon2:c.A753G:p.E251E exonic ENSG00000121058 NA synonymous SNV ENSG00000121058:ENST00000240316:exon2:c.A753G:p.E251E Score=313;Name=lod=25 NA 17q22 NA NA NA NA rs8071691 0.92 0.92 0.926 0.923522 0.832 0.998 0.8415 0.9902 0.909 0.84 1 0.84 0.99 0.8579 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.396775 NA NA 0.819884 0.958012 NA 0.783 NA 4.1568826 1244 19 49894152 49894152 C T exonic CCDC155 NA synonymous SNV CCDC155:NM_144688:exon2:c.C12T:p.P4P exonic ENSG00000161609 NA synonymous SNV ENSG00000161609:ENST00000447857:exon2:c.C12T:p.P4P,ENSG00000161609:ENST00000594043:exon2:c.C12T:p.P4P,ENSG00000161609:ENST00000597993:exon2:c.C12T:p.P4P NA NA 19q13.33 NA NA NA NA rs7256629 0.48 0.48 0.477 0.507788 0.493 0.5129 0.3934 0.4637 0.6585 0.47 0.51 0.42 0.48 0.5113 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136537 NA NA 0.505604 0.4584 NA 0.572 NA 4.1567626 1244 6 29797696 29797696 A G exonic HLA-G NA synonymous SNV HLA-G:NM_002127:exon6:c.A999G:p.R333R exonic ENSG00000204632 NA synonymous SNV ENSG00000204632:ENST00000376815:exon3:c.A447G:p.R149R,ENSG00000204632:ENST00000376818:exon4:c.A723G:p.R241R,ENSG00000204632:ENST00000478519:exon4:c.A723G:p.R241R,ENSG00000204632:ENST00000360323:exon5:c.A999G:p.R333R,ENSG00000204632:ENST00000376828:exon6:c.A1014G:p.R338R,ENSG00000204632:ENST00000428701:exon6:c.A999G:p.R333R NA NA 6p22.1 NA NA NA NA rs1130363 0.55 0.55 0.555 0.598043 0.4592 0.6101 0.5548 0.621 0.728 0.45 0.65 0.56 0.59 0.5435 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 -0.398169 NA NA 0.507442 0.605992 NA 0.623 NA 4.1565246 1244 11 128781978 128781978 T G exonic KCNJ5 NA synonymous SNV KCNJ5:NM_000890:exon2:c.T810G:p.L270L exonic ENSG00000120457 NA synonymous SNV ENSG00000120457:ENST00000533599:exon1:c.T810G:p.L270L,ENSG00000120457:ENST00000529694:exon2:c.T810G:p.L270L,ENSG00000120457:ENST00000338350:exon3:c.T810G:p.L270L Score=483;Name=lod=123 NA 11q24.3 NA NA NA NA rs7118824 0.85 0.85 0.85 0.866214 0.8479 0.876 0.7997 0.8805 0.9029 0.85 0.87 0.8 0.87 0.8414 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 0.715951 NA NA 0.82162 0.883916 NA 0.739 NA 4.1557466 1244 11 128782002 128782002 T C exonic KCNJ5 NA synonymous SNV KCNJ5:NM_000890:exon2:c.T834C:p.H278H exonic ENSG00000120457 NA synonymous SNV ENSG00000120457:ENST00000533599:exon1:c.T834C:p.H278H,ENSG00000120457:ENST00000529694:exon2:c.T834C:p.H278H,ENSG00000120457:ENST00000338350:exon3:c.T834C:p.H278H Score=506;Name=lod=152 NA 11q24.3 NA NA NA NA rs7118833 0.84 0.84 0.859 0.867013 0.8479 0.876 0.8026 0.882 0.9029 0.83 0.86 0.8 0.83 0.8416 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 0.576454 NA NA 0.82162 0.887551 NA 0.739 NA 4.1555466 1244 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 1245 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 1245 13 50126382 50126382 G A exonic RCBTB1 NA synonymous SNV RCBTB1:NM_018191:exon7:c.C643T:p.L215L exonic ENSG00000136144 NA synonymous SNV ENSG00000136144:ENST00000258646:exon5:c.C643T:p.L215L,ENSG00000136144:ENST00000378302:exon7:c.C643T:p.L215L,ENSG00000136144:ENST00000546015:exon7:c.C643T:p.L215L Score=651;Name=lod=590 NA 13q14.2 NA NA NA NA rs2274278 0.87 0.87 0.875 0.859026 0.8241 0.8889 0.8732 0.8911 0.8108 0.84 0.89 0.85 0.9 0.8542 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 1.287077 1.287077 NA 0.833953 0.896505 NA 0.855 NA 4.1544136 1245 1 3342804 3342804 G T intronic PRDM16 NA NA NA intronic ENSG00000142611 NA NA NA NA NA 1p36.32 NA Name=STAT1 NA NA rs870171 0.36 0.36 0.349 0.379393 0.2753 0.5238 0.3444 0.4387 0.2822 0.27 0.45 0.3 0.43 0.298 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317353 NA NA 0.272398 0.406282 NA 0.384 NA 4.154302 1245 1 16272250 16272250 A G exonic ZBTB17 NA synonymous SNV ZBTB17:NM_001242884:exon5:c.T375C:p.A125A,ZBTB17:NM_003443:exon6:c.T621C:p.A207A exonic ENSG00000116809 NA synonymous SNV ENSG00000116809:ENST00000448462:exon5:c.T432C:p.A144A,ENSG00000116809:ENST00000537142:exon5:c.T375C:p.A125A,ENSG00000116809:ENST00000375733:exon6:c.T621C:p.A207A,ENSG00000116809:ENST00000375743:exon6:c.T621C:p.A207A NA NA 1p36.13 NA NA NA NA rs848217 0.47 0.47 0.43 0.483027 0.502 0.3175 0.6311 0.472 0.544 0.51 0.3 0.61 0.5 0.5232 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311422 NA NA 0.487179 0.457708 NA 0.435 NA 4.1542876 1245 9 135974079 135974079 G C exonic RALGDS NA synonymous SNV RALGDS:NM_001042368:exon18:c.C2475G:p.L825L,RALGDS:NM_001271774:exon18:c.C2553G:p.L851L,RALGDS:NM_001271775:exon18:c.C2637G:p.L879L,RALGDS:NM_001271776:exon18:c.C2604G:p.L868L,RALGDS:NM_006266:exon18:c.C2640G:p.L880L exonic ENSG00000160271 NA synonymous SNV ENSG00000160271:ENST00000372047:exon18:c.C2604G:p.L868L,ENSG00000160271:ENST00000372050:exon18:c.C2640G:p.L880L,ENSG00000160271:ENST00000372062:exon18:c.C2553G:p.L851L,ENSG00000160271:ENST00000393157:exon18:c.C2637G:p.L879L,ENSG00000160271:ENST00000393160:exon18:c.C2475G:p.L825L,ENSG00000160271:ENST00000542690:exon23:c.C2853G:p.L951L Score=560;Name=lod=251 NA 9q34.2 NA NA NA NA rs1062356 0.82 0.82 0.813 0.827476 0.8181 0.7937 0.8444 0.8638 0.8108 0.81 0.8 0.84 0.85 0.8416 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 -0.324353 NA NA 0.852907 0.855878 NA 0.862 NA 4.1540596 1245 7 48004962 48004962 C T exonic HUS1 NA synonymous SNV HUS1:NM_004507:exon8:c.G834A:p.A278A exonic ENSG00000136273 NA synonymous SNV ENSG00000136273:ENST00000258774:exon8:c.G834A:p.A278A,ENSG00000136273:ENST00000432325:exon8:c.G771A:p.A257A,ENSG00000136273:ENST00000436444:exon8:c.G834A:p.A278A,ENSG00000136273:ENST00000458191:exon8:c.G771A:p.A257A NA NA 7p12.3 NA NA NA NA rs1056663 0.46 0.46 0.437 0.423323 0.5189 0.5119 0.4928 0.2799 0.3783 0.54 0.49 0.49 0.28 0.484 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.462379 1.462379 NA 0.509767 0.315252 NA 0.565 NA 4.1539996 1245 14 20482471 20482471 C T exonic OR4K14 NA synonymous SNV OR4K14:NM_001004712:exon1:c.G882A:p.E294E exonic ENSG00000169484 NA synonymous SNV ENSG00000169484:ENST00000305045:exon1:c.G882A:p.E294E Score=358;Name=lod=38 NA 14q11.2 NA NA NA NA rs12590785 0.79 0.79 0.765 0.752596 0.8549 0.9881 0.8689 0.3971 0.8027 0.83 0.99 0.88 0.42 0.8188 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 0.524312 NA NA 0.83907 0.482978 NA 0.58 NA 4.1538966 1245 9 136131437 136131437 C T exonic ABO NA unknown UNKNOWN ncRNA_exonic ENSG00000175164 NA NA NA NA NA 9q34.2 NA NA NA NA rs8176742 0.24 0.24 0.228 0.239217 0.2197 0.2887 0.4207 0.1362 0.2188 0.22 0.28 0.36 0.16 0.2367 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.325693 NA NA 0.223079 0.116557 NA 0.13 NA 4.1538543 1245 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 1245 4 9385855 9385855 G T intergenic USP17L6P,DEFB131 dist=15059;dist=60405 NA NA UTR3 ENSG00000219492 ENST00000508324:c.*66C>A NA NA Score=366;Name=lod=41 NA 4p16.1 NA NA NA NA rs6834525 0.58 0.58 0.56 0.526358 0.6799 0.6419 0.5519 0.289 0.5521 0.68 0.7 0.6 0.27 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 -0.09032 NA 0 NA NA NA 0.297 NA 4.1534334 1245 4 100228945 100228945 T C UTR3 ADH1B NM_000668:c.*52A>G NA NA UTR3 ENSG00000196616 ENST00000305046:c.*52A>G,ENST00000394887:c.*52A>G,ENST00000506651:c.*1260A>G NA NA NA NA 4q23 NA NA NA NA rs17033 0.13 0.13 0.087 0.109026 0.0934 0.0883 0.3314 0.0726 0.0378 0.1 0.1 0.28 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 0.374141 NA NA 0.086544 0.072385 NA 0.087 NA 4.1533894 1245 20 1298954 1298954 A G ncRNA_intronic FKBP1A-SDCBP2 NA NA NA intronic ENSG00000125775 NA NA NA NA NA 20p13 NA NA NA NA rs73579382 0.06 0.06 0.056 0.0495208 0.0746 0.002 0.0447 0.0764 0.0399 0.08 0.0035 0.06 0.08 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 0.962783 NA NA 0.057146 0.06594 ID=COSM149125;OCCURENCE=1(stomach) 0.051 NA 4.1533873 1245 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 1245 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 1245 11 43852491 43852491 T C intronic HSD17B12 NA NA NA ncRNA_exonic ENSG00000246250 NA NA NA NA NA 11p11.2 NA Name=Pol2(b),CEBPB,STAT3,YY1_(C-20) 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 1245 2 119988565 119988565 G A UTR5 STEAP3 NM_182915:c.-24G>A NA NA UTR5 ENSG00000115107 ENST00000450943:c.-14508G>A,ENST00000354888:c.-14508G>A,ENST00000393110:c.-24G>A NA NA NA NA 2q14.2 NA NA Name=61 NA rs838100 0.32 0.32 0.321 0.278754 0.4185 0.3363 0.2637 0.1649 0.2403 0.41 0.35 0.3 0.17 0.3511 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.409042 NA NA 0.411987 0.195571 NA 0.464 NA 4.1517464 1245 20 32212690 32212690 C T exonic CBFA2T2 NA synonymous SNV CBFA2T2:NM_001032999:exon6:c.C813T:p.P271P,CBFA2T2:NM_001039709:exon6:c.C753T:p.P251P,CBFA2T2:NM_005093:exon7:c.C840T:p.P280P exonic ENSG00000078699 NA synonymous SNV ENSG00000078699:ENST00000342704:exon6:c.C813T:p.P271P,ENSG00000078699:ENST00000359606:exon6:c.C870T:p.P290P,ENSG00000078699:ENST00000397800:exon6:c.C753T:p.P251P,ENSG00000078699:ENST00000346541:exon7:c.C840T:p.P280P,ENSG00000078699:ENST00000375279:exon7:c.C840T:p.P280P,ENSG00000078699:ENST00000492345:exon8:c.C753T:p.P251P NA NA 20q11.22 NA NA NA NA rs3803939 0.67 0.67 0.681 0.669129 0.4871 0.754 0.5692 0.8638 0.5767 0.51 0.78 0.56 0.85 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 -1.16473 NA NA 0.482791 0.77576 ID=COSM1130653;OCCURENCE=1(prostate) 0.696 NA 4.1506756 1245 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 1245 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 1245 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 1245 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 1245 6 29943005 29943005 G C ncRNA_exonic HCG9 NA NA NA ncRNA_exonic ENSG00000204625 NA NA NA NA NA 6p22.1 NA NA NA NA rs422640 0.21 0.21 0.2 0.233227 0.164 0.1478 0.2637 0.3404 0.226 0.14 0.15 0.29 0.33 0.1898 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129185 NA NA 0.162975 0.324289 NA 0.167 NA 4.1498916 1245 15 51783820 51783820 T C exonic DMXL2 NA synonymous SNV DMXL2:NM_001174117:exon18:c.A3000G:p.G1000G,DMXL2:NM_001174116:exon20:c.A4908G:p.G1636G,DMXL2:NM_015263:exon20:c.A4908G:p.G1636G exonic ENSG00000104093 NA synonymous SNV ENSG00000104093:ENST00000449909:exon18:c.A3000G:p.G1000G,ENSG00000104093:ENST00000251076:exon20:c.A4908G:p.G1636G,ENSG00000104093:ENST00000543779:exon20:c.A4908G:p.G1636G NA NA 15q21.2 NA NA NA NA rs10851500 0.48 0.48 0.463 0.445088 0.5169 0.4038 0.4942 0.4259 0.4049 0.52 0.45 0.49 0.45 0.4947 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.324296 NA NA 0.505358 0.458542 ID=COSM147907;OCCURENCE=1(stomach) 0.362 NA 4.1497086 1245 17 40843392 40843392 G T intronic CNTNAP1 NA NA NA ncRNA_intronic ENSG00000267765 NA NA NA NA NA 17q21.2 NA NA NA NA rs874640 0.04 0.04 0.031 0.0363419 0.0497 NA 0.1182 0.0129 0.0337 0.05 NA 0.1 0.01 0.0647 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 0.777874 NA NA 0.07 0.017476 NA 0.051 NA 4.1489333 1245 6 117725578 117725578 T A exonic ROS1 NA synonymous SNV ROS1:NM_002944:exon5:c.A303T:p.L101L exonic ENSG00000047936 NA synonymous SNV ENSG00000047936:ENST00000368508:exon5:c.A303T:p.L101L,ENSG00000047936:ENST00000368507:exon6:c.A330T:p.L110L NA NA 6q22.1 NA NA NA NA rs2243378 0.61 0.61 0.615 0.67512 0.502 0.5675 0.5231 0.9244 0.7352 0.51 0.56 0.51 0.89 0.5497 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 -0.849863 NA NA 0.466047 0.859056 NA 0.696 NA 4.1489196 1245 19 19230868 19230868 A G exonic TMEM161A NA synonymous SNV TMEM161A:NM_001256766:exon10:c.T1002C:p.A334A,TMEM161A:NM_017814:exon12:c.T1311C:p.A437A exonic ENSG00000064545 NA synonymous SNV ENSG00000064545:ENST00000450333:exon10:c.T1002C:p.A334A,ENSG00000064545:ENST00000162044:exon12:c.T1311C:p.A437A,ENSG00000064545:ENST00000587583:exon12:c.T1236C:p.A412A Score=329;Name=lod=29 NA 19p13.11 NA NA NA NA rs756791 0.87 0.87 0.888 0.877596 0.8459 0.9206 0.8804 0.8911 0.8456 0.84 0.92 0.86 0.88 0.8401 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 -0.20578 NA NA 0.831973 0.870607 NA 0.812 NA 4.1486936 1245 16 1270349 1270349 T C exonic CACNA1H NA synonymous SNV CACNA1H:NM_001005407:exon34:c.T6399C:p.D2133D,CACNA1H:NM_021098:exon35:c.T6417C:p.D2139D exonic ENSG00000196557 NA synonymous SNV ENSG00000196557:ENST00000565831:exon33:c.T6399C:p.D2133D,ENSG00000196557:ENST00000358590:exon34:c.T6399C:p.D2133D,ENSG00000196557:ENST00000348261:exon35:c.T6417C:p.D2139D NA NA 16p13.3 NA NA NA NA rs4247094 0.9 0.9 0.893 0.913938 0.827 0.999 0.8401 0.9312 0.9448 0.82 1 0.83 0.94 0.8583 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.733722 NA NA 0.833197 0.917563 NA 0.942 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082078.1;CLNDSDB=.;CLNDSDBID=. 4.1481696 1245 4 16002288 16002288 T C intronic PROM1 NA NA NA intronic ENSG00000007062 NA NA NA NA Name=Self-rated health 4p15.32 NA NA NA NA rs17478107 0.18 0.18 0.157 0.175519 0.2734 0.1052 0.2363 0.0189 0.316 0.29 0.11 0.26 0.03 0.2859 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043594 NA NA 0.29262 0.061423 NA 0.188 NA 4.14808 1245 19 38996620 38996620 C T intronic RYR1 NA NA NA intronic ENSG00000196218 NA NA NA NA NA 19q13.2 NA NA NA NA rs2960342 0.35 0.35 0.251 0.40595 0.2982 0.3532 0.366 0.4856 0.4918 0.31 0.32 0.35 0.46 0.3185 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293814 NA NA 0.235494 0.393271 ID=COSN165799;OCCURENCE=1(breast) 0.326 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000119750.1;CLNDSDB=.;CLNDSDBID=. 4.147806 1245 9 139621168 139621168 G A ncRNA_exonic SNHG7 NA NA NA ncRNA_exonic ENSG00000233016 NA NA NA NA NA 9q34.3 NA Name=Pol2(b),Pol2-4H8,BCLAF1_(M33-P5B11),Pol2(phosphoS2),CTCF NA NA rs2275160 0.51 0.51 0.485 0.46226 0.5179 0.7391 0.4582 0.236 0.4284 0.5 0.76 0.47 0.25 0.5024 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 -0.203687 NA NA 0.498744 0.285388 NA 0.348 NA 4.1476226 1245 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 1245 21 40883712 40883712 T C UTR3 SH3BGR NM_001001713:c.*10T>C,NM_007341:c.*10T>C NA NA UTR3 ENSG00000185437 ENST00000380637:c.*10T>C,ENST00000380634:c.*10T>C,ENST00000458295:c.*10T>C,ENST00000380631:c.*10T>C,ENST00000333634:c.*10T>C,ENST00000452550:c.*10T>C NA NA NA NA 21q22.2 NA NA NA NA rs79433162 0.07 0.07 0.068 0.0840655 0.0696 0.002 0.0432 0.1884 0.0716 0.06 NA 0.05 0.18 0.0634 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.65259 NA NA 0.05314 0.168407 NA 0.094 NA 4.1471934 1245 7 99711040 99711040 G A intronic TAF6 NA NA NA intronic ENSG00000106290 NA NA NA NA NA 7q22.1 NA Name=ZNF263 NA NA rs4134903 0.26 0.26 0.242 0.275958 0.2763 0.4038 0.2277 0.152 0.3456 0.27 0.37 0.25 0.13 0.2895 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.37391 2.37391 NA 0.287093 0.182251 NA 0.275 NA 4.147107 1245 6 158505088 158505088 A G exonic SYNJ2 NA synonymous SNV SYNJ2:NM_001178088:exon21:c.A2379G:p.G793G,SYNJ2:NM_003898:exon22:c.A3090G:p.G1030G exonic ENSG00000078269 NA synonymous SNV ENSG00000078269:ENST00000367112:exon5:c.A345G:p.G115G,ENSG00000078269:ENST00000355585:exon22:c.A3090G:p.G1030G,ENSG00000078269:ENST00000367121:exon22:c.A3090G:p.G1030G,ENSG00000078269:ENST00000367122:exon22:c.A3090G:p.G1030G NA NA 6q25.3 NA NA Name=5 NA rs1744173 0.76 0.76 0.797 0.794129 0.8539 0.5933 0.5865 0.9841 0.8303 0.84 0.55 0.65 0.98 0.806 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 -0.179461 NA NA 0.859884 0.962097 ID=COSM1131993;OCCURENCE=1(prostate) 0.841 NA 4.1468826 1245 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 1245 18 61390570 61390570 T G exonic SERPINB11 NA unknown UNKNOWN exonic ENSG00000206072 NA synonymous SNV ENSG00000206072:ENST00000538847:exon3:c.T510G:p.L170L,ENSG00000206072:ENST00000536691:exon7:c.T591G:p.L197L Score=470;Name=lod=108 NA 18q21.33 NA NA NA NA rs953695 0.74 0.74 0.744 0.704273 0.7416 0.8522 0.7205 0.559 0.6984 0.76 0.84 0.74 0.61 0.7207 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 0.090609 NA NA 0.72458 0.597572 NA 0.783 NA 4.1464533 1245 7 102948040 102948040 T C intronic PMPCB NA NA NA intronic ENSG00000105819 NA NA NA Score=552;Name=lod=234 NA 7q22.1 NA NA Name=38 NA rs11489600 0.43 0.43 0.413 0.377796 0.67 0.3244 0.5014 0.1097 0.407 0.67 0.33 0.49 0.12 0.5465 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 2.315549 2.315549 NA 0.637674 0.212665 NA 0.442 NA 4.145826 1245 1 220205704 220205704 T A ncRNA_intronic RNU5F-1 NA NA NA intronic ENSG00000136628 NA NA NA NA NA 1q41 NA NA NA NA rs3738339 0.18 0.18 0.043 0.210264 0.0477 0.3413 0.1628 0.2526 0.2188 0.04 0.32 0.14 0.25 0.1199 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.734133 NA NA 0.02 0.108715 NA 0.022 NA 4.1457333 1245 16 3789538 3789538 G A intronic CREBBP NA NA NA UTR3 ENSG00000005339 ENST00000573517:c.*37C>T NA NA NA NA 16p13.3 NA NA NA NA rs56352993 0.0014 0.0014 NA 0.00199681 0.006 NA 0.0014 0.0008 0.002 0.004 NA NA NA 0.0065 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 -0.018472 NA NA 0.008488 0.002503 NA 0.007 NA 4.1456787 1245 2 120125936 120125936 T C intronic DBI NA NA NA intronic ENSG00000155368 NA NA NA NA NA 2q14.2 NA NA Name=2 NA rs2244135 0.87 0.87 0.885 0.869409 0.8549 0.8651 0.7968 0.9622 0.8149 0.86 0.86 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 0.590678 NA NA NA NA NA 0.732 NA 4.1451 1245 7 90225928 90225928 T C intergenic CLDN12,CDK14 dist=180660;dist=112784 NA NA ncRNA_UTR5 ENSG00000058091 NA NA NA NA NA 7q21.13 Score=815;Name=V$RFX1_02 Name=Pol2,E2F6_(H-50),TAF1,Pol2-4H8 Name=113 NA rs7782773 0.96 0.96 0.966 0.965655 0.9553 0.999 0.9568 0.9607 0.955 0.95 0.99 0.94 0.96 0.9562 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 0.070193 NA NA 0.943496 0.960046 NA 0.014 NA 4.145004 1246 13 95861804 95861804 A G exonic ABCC4 NA synonymous SNV ABCC4:NM_001105515:exon6:c.T669C:p.I223I,ABCC4:NM_005845:exon6:c.T669C:p.I223I exonic ENSG00000125257 NA synonymous SNV ENSG00000125257:ENST00000536256:exon5:c.T444C:p.I148I,ENSG00000125257:ENST00000376887:exon6:c.T669C:p.I223I,ENSG00000125257:ENST00000412704:exon6:c.T669C:p.I223I,ENSG00000125257:ENST00000431522:exon6:c.T669C:p.I223I NA NA 13q32.1 NA Name=GATA-1 NA NA rs899494 0.82 0.82 0.813 0.807508 0.8429 0.8125 0.8501 0.795 0.7526 0.85 0.79 0.85 0.79 0.8289 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 0.063884 NA NA 0.850233 0.791194 NA 0.826 NA 4.1446336 1246 14 94417541 94417541 A G exonic ASB2 NA synonymous SNV ASB2:NM_016150:exon4:c.T540C:p.N180N,ASB2:NM_001202429:exon6:c.T684C:p.N228N exonic ENSG00000100628 NA synonymous SNV ENSG00000100628:ENST00000556062:exon3:c.T222C:p.N74N,ENSG00000100628:ENST00000315988:exon4:c.T540C:p.N180N,ENSG00000100628:ENST00000555507:exon4:c.T378C:p.N126N,ENSG00000100628:ENST00000555019:exon6:c.T684C:p.N228N NA NA 14q32.12 Score=845;Name=V$HAND1E47_01 NA NA NA rs4277287 0.82 0.82 0.829 0.811901 0.8469 0.8988 0.6499 0.7874 0.8344 0.83 0.89 0.7 0.8 0.8193 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 1.108709 NA NA 0.856279 0.80118 NA 0.891 NA 4.1441876 1246 15 93521604 93521604 A G exonic CHD2 NA synonymous SNV CHD2:NM_001271:exon21:c.A2718G:p.Q906Q exonic ENSG00000173575 NA synonymous SNV ENSG00000173575:ENST00000557116:exon3:c.A258G:p.Q86Q,ENSG00000173575:ENST00000394196:exon21:c.A2718G:p.Q906Q,ENSG00000173575:ENST00000557381:exon21:c.A2718G:p.Q906Q Score=655;Name=lod=615 NA 15q26.1 NA NA NA NA rs11074121 0.82 0.82 0.796 0.809105 0.8479 0.999 0.889 0.5182 0.91 0.84 1 0.86 0.54 0.8353 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847704 NA NA 0.839344 0.568275 NA 0.754 NA 4.1441226 1246 1 21755756 21755756 G C intergenic ECE1,NBPF3 dist=83722;dist=10827 NA NA ncRNA_exonic ENSG00000187952 NA NA NA Score=807;Name=lod=2532 NA 1p36.12 NA NA NA NA rs7532463 0.74 0.74 0.706 0.688498 0.8559 0.8393 0.7896 0.3903 0.6922 0.85 0.84 0.83 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 0.290294 NA NA NA NA NA 0.188 NA 4.1441 1246 1 21756008 21756008 G T intergenic ECE1,NBPF3 dist=83974;dist=10575 NA NA ncRNA_exonic ENSG00000187952 NA NA NA Score=807;Name=lod=2532 NA 1p36.12 NA NA NA NA rs3894725 0.72 0.72 0.635 0.688698 0.8559 0.8403 0.7896 0.3903 0.6922 0.84 0.81 0.81 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 0.387842 NA NA NA NA NA NA NA 4.1441 1246 17 16721538 16721538 T C intergenic USP32P1,KRT16P2 dist=13719;dist=12259 NA NA ncRNA_exonic ENSG00000226145 NA NA NA Score=463;Name=lod=102 NA 17p11.2 NA NA NA NA rs2688024 0.91 0.91 0.919 0.9375 0.8559 1 0.9179 0.9455 0.9601 0.87 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 -0.077633 NA NA NA NA NA 0.862 NA 4.1441 1246 15 63954029 63954029 C T exonic HERC1 NA synonymous SNV HERC1:NM_003922:exon45:c.G9093A:p.P3031P exonic ENSG00000103657 NA synonymous SNV ENSG00000103657:ENST00000443617:exon45:c.G9093A:p.P3031P Score=500;Name=lod=144 NA 15q22.31 NA NA NA NA rs2228511 0.65 0.65 0.674 0.635383 0.8966 0.0962 0.647 0.8752 0.59 0.89 0.09 0.69 0.89 0.7466 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 0.370935 NA NA 0.879437 0.855534 NA 0.638 NA 4.1440296 1246 14 53529669 53529669 A T exonic DDHD1 NA synonymous SNV DDHD1:NM_001160148:exon7:c.T1758A:p.T586T,DDHD1:NM_030637:exon7:c.T1758A:p.T586T,DDHD1:NM_001160147:exon8:c.T1779A:p.T593T exonic ENSG00000100523 NA synonymous SNV ENSG00000100523:ENST00000323669:exon7:c.T1758A:p.T586T,ENSG00000100523:ENST00000357758:exon7:c.T1758A:p.T586T,ENSG00000100523:ENST00000395606:exon8:c.T1779A:p.T593T NA NA 14q22.1 NA NA Name=47 NA rs4898778 0.84 0.84 0.826 0.817692 0.837 0.9812 0.8876 0.5998 0.8742 0.85 0.99 0.87 0.61 0.8471 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 -0.961984 NA NA 0.838721 0.630958 NA 0.855 NA 4.1438456 1246 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 1246 9 136328657 136328657 T C exonic CACFD1 NA synonymous SNV CACFD1:NM_001135775:exon2:c.T174C:p.I58I,CACFD1:NM_001242369:exon2:c.T174C:p.I58I,CACFD1:NM_001242370:exon2:c.T174C:p.I58I,CACFD1:NM_017586:exon2:c.T174C:p.I58I exonic ENSG00000160325 NA synonymous SNV ENSG00000160325:ENST00000291722:exon2:c.T174C:p.I58I,ENSG00000160325:ENST00000316948:exon2:c.T174C:p.I58I,ENSG00000160325:ENST00000444798:exon2:c.T90C:p.I30I,ENSG00000160325:ENST00000540581:exon2:c.T174C:p.I58I,ENSG00000160325:ENST00000542192:exon2:c.T174C:p.I58I Score=546;Name=lod=221 NA 9q34.2 NA NA NA NA rs3124765 0.85 0.85 0.799 0.841054 0.839 0.9415 0.8919 0.7012 0.8926 0.85 0.94 0.9 0.71 0.8342 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 0.136525 NA NA 0.850233 0.697685 NA 0.833 NA 4.1432336 1246 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 1246 7 107580839 107580839 A G intronic LAMB1 NA NA NA intronic ENSG00000091136 NA NA NA NA Name=Ulcerative colitis 7q31.1 NA NA Name=3 NA rs2158836 0.7 0.7 0.714 0.684904 0.6143 0.8621 0.6571 0.6936 0.5828 0.61 0.86 0.63 0.7 0.6316 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 2.410533 2.410533 NA 0.611163 0.652746 NA 0.725 NA 4.142937 1246 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 1246 17 73570756 73570756 G T intronic LLGL2 NA NA NA intronic ENSG00000073350 NA NA NA Score=403;Name=lod=58 NA 17q25.1 NA NA NA NA rs1661712 0.33 0.33 0.328 0.314696 0.2813 0.1508 0.245 0.6097 0.1687 0.29 0.14 0.24 0.68 0.2821 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.843934 1.843934 NA 0.293858 0.572401 NA 0.355 NA 4.142742 1246 17 8192922 8192922 C T UTR3 RANGRF,SLC25A35 NM_001177802:c.*43C>T,NM_001177801:c.*12C>T;NM_201520:c.*12G>A NA NA UTR3 ENSG00000108961,ENSG00000125434 ENST00000407006:c.*12C>T,ENST00000439238:c.*43C>T;ENST00000579192:c.*12G>A,ENST00000396278:c.*100G>A,ENST00000380067:c.*12G>A,ENST00000585311:c.*100G>A,ENST00000580340:c.*12G>A NA NA NA NA 17p13.1 NA NA NA NA rs869773 0.16 0.16 0.145 0.141573 0.0497 0.2887 0.232 0.0915 0.0879 0.05 0.33 0.19 0.11 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 -0.389606 NA NA 0.043256 0.098048 NA 0.159 NA 4.1426774 1246 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 1246 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 1246 17 64025331 64025331 A G exonic CEP112 NA synonymous SNV CEP112:NM_001199165:exon14:c.T1413C:p.N471N,CEP112:NM_145036:exon14:c.T1413C:p.N471N exonic ENSG00000154240 NA synonymous SNV ENSG00000154240:ENST00000541355:exon6:c.T318C:p.N106N,ENSG00000154240:ENST00000537949:exon12:c.T1287C:p.N429N,ENSG00000154240:ENST00000392769:exon14:c.T1413C:p.N471N,ENSG00000154240:ENST00000535342:exon14:c.T1413C:p.N471N,ENSG00000154240:ENST00000583358:exon14:c.T1413C:p.N471N NA NA 17q24.1 NA NA NA NA rs11652766 0.4 0.4 0.42 0.380791 0.5249 0.0903 0.317 0.5983 0.2832 0.52 0.11 0.34 0.59 0.451 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.585436 NA NA 0.548744 0.583144 NA 0.435 NA 4.1420226 1246 8 94768124 94768124 C G intronic TMEM67 NA NA NA UTR5 ENSG00000164953 ENST00000498673:c.-8020C>G NA NA NA NA 8q22.1 NA NA NA NA rs74712633 0.01 0.01 0.016 0.00858626 0.004 0.0169 0.0029 NA 0.0204 0.01 0.03 0.0028 NA 0.0131 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 0.697732 NA NA 0.007825 0.002505 NA 0.014 NA 4.1417417 1246 16 55523705 55523705 T C exonic MMP2 NA synonymous SNV MMP2:NM_001127891:exon7:c.T999C:p.D333D,MMP2:NM_004530:exon7:c.T1149C:p.D383D exonic ENSG00000087245 NA synonymous SNV ENSG00000087245:ENST00000219070:exon7:c.T1149C:p.D383D,ENSG00000087245:ENST00000437642:exon7:c.T999C:p.D333D,ENSG00000087245:ENST00000543485:exon7:c.T921C:p.D307D,ENSG00000087245:ENST00000570308:exon8:c.T921C:p.D307D NA NA 16q12.2 Score=849;Name=V$GATA1_03 NA NA NA rs243849 0.78 0.78 0.766 0.79992 0.8419 0.8016 0.804 0.7005 0.8865 0.86 0.8 0.78 0.65 0.8378 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 -0.042875 NA NA 0.845581 0.708826 NA 0.71 NA 4.1413856 1246 19 7916620 7916620 A G exonic EVI5L NA synonymous SNV EVI5L:NM_001159944:exon7:c.A951G:p.A317A,EVI5L:NM_145245:exon8:c.A951G:p.A317A exonic ENSG00000142459 NA synonymous SNV ENSG00000142459:ENST00000599036:exon3:c.A300G:p.A100A,ENSG00000142459:ENST00000538904:exon7:c.A951G:p.A317A,ENSG00000142459:ENST00000270530:exon8:c.A951G:p.A317A Score=630;Name=lod=484 NA 19p13.2 NA NA NA NA rs580790 0.78 0.78 0.756 0.767772 0.8429 0.7014 0.8473 0.6346 0.8824 0.84 0.76 0.86 0.65 0.8324 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 1.264287 1.264287 NA 0.850116 0.681344 NA 0.826 NA 4.1412506 1246 1 53072454 53072454 T C exonic GPX7 NA synonymous SNV GPX7:NM_015696:exon2:c.T237C:p.F79F exonic ENSG00000116157 NA synonymous SNV ENSG00000116157:ENST00000361314:exon2:c.T237C:p.F79F Score=391;Name=lod=52 NA 1p32.3 NA NA NA NA rs1970951 0.85 0.85 0.869 0.877995 0.841 0.7996 0.879 0.9743 0.8661 0.84 0.79 0.85 0.96 0.8478 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 0.799469 NA NA 0.836628 0.952565 NA 0.884 NA 4.1412386 1246 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 1246 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 1246 2 85769975 85769975 A G intronic MAT2A NA NA NA intronic ENSG00000168906 NA NA NA NA NA 2p11.2 NA NA Name=5 NA rs2043675 0.33 0.33 0.328 0.28734 0.3121 0.3095 0.2219 0.3949 0.1401 0.32 0.33 0.25 0.39 0.269 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.863936 NA NA 0.278256 0.355878 ID=COSN166152;OCCURENCE=1(breast) 0.312 NA 4.140644 1246 10 98416533 98416533 C T intronic PIK3AP1 NA NA NA intronic ENSG00000155629 NA NA NA NA NA 10q24.1 NA NA Name=9 NA rs3748231 0.3 0.3 0.298 0.28115 0.2734 0.3948 0.2493 0.1974 0.3078 0.28 0.47 0.26 0.19 0.2941 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.149112 NA NA 0.29186 0.214934 NA 0.21 NA 4.14064 1246 15 63922752 63922752 T A exonic HERC1 NA synonymous SNV HERC1:NM_003922:exon69:c.A12879T:p.I4293I exonic ENSG00000103657 NA synonymous SNV ENSG00000103657:ENST00000443617:exon69:c.A12879T:p.I4293I Score=497;Name=lod=140 NA 15q22.31 NA NA NA NA rs10851731 0.65 0.65 0.661 0.636781 0.8976 0.0972 0.6484 0.8744 0.5951 0.89 0.1 0.69 0.88 0.748 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 1.032905 NA NA 0.880443 0.855363 ID=COSM147936;OCCURENCE=1(stomach) 0.638 NA 4.1406236 1246 8 144671244 144671244 C A exonic EEF1D NA synonymous SNV EEF1D:NM_001130053:exon3:c.G1008T:p.R336R,EEF1D:NM_032378:exon3:c.G1008T:p.R336R exonic ENSG00000104529 NA synonymous SNV ENSG00000104529:ENST00000532741:exon1:c.G1158T:p.R386R,ENSG00000104529:ENST00000423316:exon3:c.G1008T:p.R336R,ENSG00000104529:ENST00000442189:exon3:c.G1008T:p.R336R Score=355;Name=lod=37 NA 8q24.3 NA NA NA NA rs4874160 0.71 0.71 0.691 0.642572 0.8499 0.5149 0.7536 0.4879 0.6912 0.92 0.56 0.85 0.47 0.7623 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 -0.412115 NA NA 0.913893 0.551457 ID=COSM1569153;OCCURENCE=1(large_intestine) 0.667 NA 4.1405736 1246 7 47971575 47971575 A G exonic PKD1L1 NA synonymous SNV PKD1L1:NM_138295:exon5:c.T477C:p.C159C exonic ENSG00000158683 NA synonymous SNV ENSG00000158683:ENST00000289672:exon5:c.T477C:p.C159C NA NA 7p12.3 NA NA NA NA rs885337 0.5 0.5 0.464 0.478834 0.5219 0.5149 0.5231 0.4584 0.3937 0.53 0.49 0.5 0.46 0.4977 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12464 NA NA 0.506512 0.467317 NA 0.616 NA 4.1405546 1246 3 130300650 130300650 T C exonic COL6A6 NA synonymous SNV COL6A6:NM_001102608:exon8:c.T3793C:p.L1265L exonic ENSG00000206384 NA synonymous SNV ENSG00000206384:ENST00000358511:exon8:c.T3793C:p.L1265L,ENSG00000206384:ENST00000453409:exon8:c.T3793C:p.L1265L Score=300;Name=lod=22 NA 3q22.1 NA NA NA NA rs6439249 0.63 0.63 0.593 0.578275 0.8638 0.4444 0.7824 0.2943 0.6616 0.88 0.46 0.8 0.34 0.7821 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 -0.878645 NA NA 0.880268 0.421522 NA 0.616 NA 4.1404986 1246 15 42109223 42109223 T C exonic MAPKBP1 NA synonymous SNV MAPKBP1:NM_001265611:exon14:c.T1701C:p.V567V,MAPKBP1:NM_014994:exon14:c.T1701C:p.V567V,MAPKBP1:NM_001128608:exon15:c.T1719C:p.V573V exonic ENSG00000137802 NA synonymous SNV ENSG00000137802:ENST00000221214:exon12:c.T1350C:p.V450V,ENSG00000137802:ENST00000260357:exon12:c.T1218C:p.V406V,ENSG00000137802:ENST00000457542:exon14:c.T1701C:p.V567V,ENSG00000137802:ENST00000514566:exon14:c.T1701C:p.V567V,ENSG00000137802:ENST00000456763:exon15:c.T1719C:p.V573V Score=574;Name=lod=286 NA 15q15.1 NA NA NA NA rs1197689 0.73 0.73 0.755 0.769768 0.8718 0.3185 0.8127 0.9501 0.8558 0.86 0.31 0.81 0.95 0.8055 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 1.369051 1.369051 NA 0.848953 0.931911 ID=COSM1129211;OCCURENCE=1(prostate) 0.819 NA 4.1404136 1246 19 35614336 35614336 T C intronic FXYD3 NA NA NA intronic ENSG00000089356 NA NA NA Score=333;Name=lod=30 NA 19q13.12 NA NA Name=22 NA rs1672974 0.59 0.59 0.567 0.600839 0.6153 0.5496 0.6657 0.5053 0.7219 0.63 0.57 0.61 0.55 0.6341 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 0.113139 NA NA 0.610233 0.540399 NA 0.688 NA 4.140367 1246 20 239688 239688 G A intronic DEFB132 NA NA NA intronic ENSG00000186458 NA NA NA NA NA 20p13 NA Name=CTCF_(C-20),CTCF,SMC3_(ab9263),Rad21 Name=68 NA rs399083 0.61 0.61 0.585 0.589856 0.6491 0.6458 0.5663 0.5454 0.5481 0.65 0.63 0.59 0.57 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 0.198467 NA NA 0.615349 0.581026 NA 0.63 NA 4.140351 1246 19 35770064 35770064 C T intronic USF2 NA NA NA exonic ENSG00000105698 NA synonymous SNV ENSG00000105698:ENST00000594064:exon9:c.C1032T:p.S344S NA NA 19q13.12 NA NA NA NA rs2280747 0.16 0.16 0.152 0.157947 0.2366 0.0258 0.1354 0.1861 0.1912 0.23 0.01 0.18 0.19 0.2346 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356816 NA NA 0.222313 0.188551 NA 0.196 NA 4.1398203 1246 13 48619942 48619942 G A UTR3 NUDT15 NM_018283:c.*7G>A NA NA UTR3 ENSG00000136159 ENST00000258662:c.*7G>A NA NA NA NA 13q14.2 NA NA NA NA rs61973267 0.03 0.03 0.031 0.0339457 0.0616 NA 0.1009 0.0045 0.0327 0.05 NA 0.08 0.01 0.0662 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 -0.023026 NA NA 0.066062 0.015902 NA 0.022 NA 4.1394714 1246 11 77051820 77051820 C T intronic PAK1 NA NA NA intronic ENSG00000149269 NA NA NA NA NA 11q13.5 NA NA Name=10 NA rs51500 0.19 0.19 0.181 0.152556 0.3181 0.0635 0.183 0.1331 0.0787 0.33 0.04 0.19 0.13 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 1.826003 1.826003 NA 0.308131 0.144318 NA 0.225 NA 4.139169 1246 2 33787773 33787773 A G intronic RASGRP3 NA NA NA ncRNA_intronic ENSG00000237133 NA NA NA NA NA 2p22.3 NA NA NA NA rs13415927 0.08 0.08 0.058 0.076278 0.0626 0.0694 0.1758 0.0189 0.1043 0.07 0.09 0.14 0.02 0.0736 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.763761 NA NA 0.059524 0.02159 NA 0.08 NA 4.1376093 1246 7 5105133 5105133 C T exonic RBAK NA synonymous SNV RBAK:NM_021163:exon5:c.C2046T:p.N682N,RBAK:NM_001204456:exon6:c.C2046T:p.N682N exonic ENSG00000146587 NA synonymous SNV ENSG00000146587:ENST00000396912:exon5:c.C2046T:p.N682N,ENSG00000146587:ENST00000353796:exon6:c.C2046T:p.N682N NA NA 7p22.1 NA NA NA NA rs12334144 0.58 0.58 0.606 0.575879 0.5129 0.5526 0.4193 0.7504 0.5399 0.53 0.59 0.44 0.75 0.5211 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 -0.045781 NA NA 0.495115 0.723105 ID=COSM1451372;OCCURENCE=1(large_intestine) 0.609 NA 4.1375516 1246 17 11865110 11865110 G A intronic DNAH9 NA NA NA ncRNA_intronic ENSG00000266368 NA NA NA NA NA 17p12 NA NA NA NA rs11656157 0.2 0.2 0.201 0.173323 0.1958 0.2163 0.2406 0.121 0.1288 0.22 0.23 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 -0.154499 NA NA NA NA NA 0.188 NA 4.1375333 1246 14 30068194 30068194 T G ncRNA_intronic MIR548AI NA NA NA intronic ENSG00000184304 NA NA NA NA NA 14q12 NA Name=MafK_(ab50322),MafK_(SC-477) NA NA rs2273813 0.45 0.45 0.462 0.506789 0.3847 0.2113 0.4553 0.8321 0.5337 0.38 0.23 0.44 0.83 0.4323 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 0.050091 NA NA 0.378837 0.749433 ID=COSN164654;OCCURENCE=1(breast) 0.565 NA 4.1374963 1246 16 56995236 56995236 C A upstream CETP NA NA NA upstream ENSG00000087237 NA NA NA NA Name=Triglycerides,HDL cholesterol,Lipid metabolism phenotypes 16q13 NA Name=AP-2gamma NA NA rs1800775 0.52 0.52 0.501 0.546526 0.4881 0.4861 0.5432 0.6067 0.59 0.48 0.52 0.51 0.57 0.5655 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.182803 NA NA 0.475604 0.558924 NA 0.587 NA 4.1374626 1246 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 1246 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 1246 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 1246 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 1246 10 52025167 52025167 A G intergenic ASAH2,SGMS1 dist=16797;dist=40178 NA NA ncRNA_exonic ENSG00000225137 NA NA NA Score=715;Name=lod=1073 NA 10q11.23 NA NA NA NA rs2574943 0.79 0.79 0.783 0.776558 0.8648 0.7331 0.7565 0.7027 0.8446 0.87 0.76 0.77 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 -0.071973 NA NA NA NA NA 0.754 NA 4.1352 1246 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 1246 17 7318396 7318396 C T exonic NLGN2 NA synonymous SNV NLGN2:NM_020795:exon5:c.C966T:p.S322S exonic ENSG00000169992 NA synonymous SNV ENSG00000169992:ENST00000302926:exon5:c.C966T:p.S322S,ENSG00000169992:ENST00000575301:exon6:c.C966T:p.S322S Score=623;Name=lod=455 NA 17p13.1 NA NA NA NA rs2241233 0.82 0.82 0.78 0.76897 0.8499 0.9534 0.8919 0.4909 0.7843 0.86 0.94 0.89 0.55 0.8283 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 0.37016 NA NA 0.853372 0.529278 NA 0.732 NA 4.1350946 1247 9 130707081 130707081 A G exonic FAM102A NA synonymous SNV FAM102A:NM_203305:exon6:c.T588C:p.D196D,FAM102A:NM_001035254:exon9:c.T1014C:p.D338D exonic ENSG00000167106 NA synonymous SNV ENSG00000167106:ENST00000373084:exon6:c.T588C:p.D196D,ENSG00000167106:ENST00000373095:exon9:c.T1014C:p.D338D Score=563;Name=lod=260 NA 9q34.11 NA NA NA NA rs2274426 0.72 0.72 0.686 0.70008 0.8708 0.4494 0.8588 0.7065 0.6616 0.86 0.43 0.84 0.72 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 1.122642 NA NA 0.868837 0.717658 NA 0.775 NA 4.1347296 1247 14 105416649 105416649 G A exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.C5139T:p.A1713A exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.C5139T:p.A1713A NA NA 14q32.33 NA NA NA NA rs28593209 0.29 0.29 0.256 0.276957 0.5398 0.0853 0.3674 0.053 0.4427 0.55 0.06 0.39 0.09 0.4494 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165792 NA NA 0.543355 0.134205 ID=COSM1368631;OCCURENCE=1(large_intestine) 0.232 NA 4.1341116 1247 X 53228148 53228148 C A intronic KDM5C NA NA NA intronic ENSG00000126012 NA NA NA NA NA Xp11.22 NA Name=CTCF NA NA rs1977364 0.75 0.75 0.7186 NA NA NA NA NA NA 0.97 0.69 0.88 0.37 0.892 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 -1.258537 NA NA 0.975178 0.445632 NA 0.572 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080872.1;CLNDSDB=.;CLNDSDBID=. 4.132822 1247 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 1247 18 76754466 76754466 C T exonic SALL3 NA synonymous SNV SALL3:NM_171999:exon2:c.C2475T:p.Y825Y exonic ENSG00000256463 NA synonymous SNV ENSG00000256463:ENST00000536229:exon1:c.C2076T:p.Y692Y,ENSG00000256463:ENST00000537592:exon2:c.C2475T:p.Y825Y,ENSG00000256463:ENST00000575389:exon2:c.C2475T:p.Y825Y Score=393;Name=lod=53 NA 18q23 NA NA NA NA rs2472644 0.8 0.8 0.764 0.778954 0.8569 0.9187 0.7622 0.5817 0.8333 0.85 0.93 0.78 0.59 0.8245 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 -1.303155 NA NA 0.853667 0.636902 NA 0.645 NA 4.1315996 1247 20 33337751 33337751 T C exonic NCOA6 NA synonymous SNV NCOA6:NM_001242539:exon9:c.A2247G:p.P749P,NCOA6:NM_014071:exon9:c.A2247G:p.P749P exonic ENSG00000198646 NA synonymous SNV ENSG00000198646:ENST00000359003:exon9:c.A2247G:p.P749P,ENSG00000198646:ENST00000374796:exon10:c.A2247G:p.P749P Score=570;Name=lod=276 NA 20q11.22 NA NA NA NA rs3787220 0.86 0.86 0.839 0.804912 0.8708 0.7768 0.9366 0.8427 0.6217 0.87 0.81 0.93 0.85 0.8285 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 0.43448 NA NA 0.836163 0.834544 NA 0.833 NA 4.1312036 1247 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 1247 19 47813165 47813165 G A intronic C5AR1 NA NA NA intronic ENSG00000197405 NA NA NA NA NA 19q13.32 NA Name=EBF,EBF1_(C-8),CTCF NA NA rs11670330 0.39 0.39 0.386 0.399361 0.2684 0.4752 0.3617 0.4274 0.4448 0.27 0.51 0.35 0.44 0.3392 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.716262 NA NA 0.261395 0.394235 NA 0.399 NA 4.131005 1247 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 1247 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 1247 10 75936611 75936611 C T UTR5 ADK NM_001202449:c.-20C>T,NM_001123:c.-20C>T NA NA UTR5 ENSG00000156110 ENST00000372734:c.-20C>T,ENST00000541550:c.-20C>T NA NA NA NA 10q22.2 NA Name=ELF1_(SC-631),KAP1,HEY1,GATA-1,TAF1,HMGN3,RFX5_(N-494),NFKB,Pol2-4H8,Pol2,Pol2(phosphoS2),HA-E2F1,ZNF263,JunD,Pol2(b),TBP,Sin3Ak-20,E2F4,c-Myc Name=148 NA rs10824095 0.65 0.65 0.719 0.630192 0.7584 0.3869 0.6787 0.7852 0.5051 0.76 0.4 0.66 0.76 0.6812 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 -0.556645 NA NA 0.763501 0.793315 NA 0.768 NA 4.1302324 1247 13 42185696 42185696 T C intronic VWA8 NA NA NA intronic ENSG00000102763 NA NA NA NA NA 13q14.11 NA NA Name=13 NA rs3814782 0.35 0.35 0.327 0.364617 0.2873 0.4901 0.3818 0.351 0.3211 0.29 0.43 0.33 0.34 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 0.241047 NA NA 0.264209 0.316084 ID=COSN164474;OCCURENCE=1(breast) 0.319 NA 4.130191 1247 15 93510603 93510603 A G exonic CHD2 NA synonymous SNV CHD2:NM_001271:exon17:c.A2049G:p.E683E exonic ENSG00000173575 NA synonymous SNV ENSG00000173575:ENST00000394196:exon17:c.A2049G:p.E683E,ENSG00000173575:ENST00000557381:exon17:c.A2049G:p.E683E Score=660;Name=lod=643 NA 15q26.1 NA NA NA NA rs4777755 0.84 0.84 0.815 0.826478 0.8529 0.999 0.8948 0.5756 0.9121 0.85 1 0.87 0.6 0.8419 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.12898 NA NA 0.84202 0.616067 NA 0.783 NA 4.1298466 1247 1 43613786 43613786 G T intronic FAM183A NA NA NA intronic ENSG00000186973 NA NA NA NA NA 1p34.2 NA Name=USF-1,USF1_(SC-8983) NA NA rs519666 0.2 0.2 0.19 0.165335 0.3211 0.001 0.2017 0.1619 0.1534 0.34 0.0017 0.21 0.18 0.2579 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254255 NA NA 0.291483 0.164516 NA 0.326 NA 4.129517 1247 19 17777508 17777508 C G exonic UNC13A NA synonymous SNV UNC13A:NM_001080421:exon7:c.G474C:p.S158S exonic ENSG00000130477 NA synonymous SNV ENSG00000130477:ENST00000252773:exon7:c.G474C:p.S158S,ENSG00000130477:ENST00000519716:exon7:c.G474C:p.S158S,ENSG00000130477:ENST00000550896:exon7:c.G474C:p.S158S,ENSG00000130477:ENST00000551649:exon7:c.G474C:p.S158S,ENSG00000130477:ENST00000552293:exon7:c.G474C:p.S158S,ENSG00000130477:ENST00000428389:exon8:c.G738C:p.S246S Score=535;Name=lod=199 NA 19p13.11 NA NA NA NA rs9305092 0.75 0.75 0.75 0.751997 0.8698 0.5099 0.6585 0.8759 0.7791 0.87 0.49 0.72 0.88 0.8013 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 0.818983 NA NA 0.866093 0.864464 NA 0.812 NA 4.1294736 1247 19 38997076 38997076 C T intronic RYR1 NA NA NA intronic ENSG00000196218 NA NA NA NA NA 19q13.2 NA NA NA NA rs2960344 0.35 0.35 0.325 0.40615 0.2982 0.3532 0.366 0.4856 0.4928 0.31 0.32 0.35 0.46 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 0.802553 NA NA 0.24907 0.427826 ID=COSN165802;OCCURENCE=1(breast) 0.341 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000119755.1;CLNDSDB=.;CLNDSDBID=. 4.12923 1247 3 13364876 13364876 G T exonic NUP210 NA synonymous SNV NUP210:NM_024923:exon34:c.C4701A:p.T1567T exonic ENSG00000132182 NA synonymous SNV ENSG00000132182:ENST00000254508:exon34:c.C4701A:p.T1567T NA NA 3p25.1 NA NA NA NA rs514084 0.54 0.54 0.508 0.557708 0.5129 0.6974 0.6124 0.3744 0.6687 0.52 0.66 0.58 0.41 0.5373 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 -0.213875 NA NA 0.487326 0.402406 NA 0.384 NA 4.1291406 1247 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 1247 6 152489037 152489037 T G intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.1 NA NA Name=9 NA rs997389 0.17 0.17 0.162 0.194089 0.335 0.1419 0.3473 0.0356 0.2086 0.25 0.12 0.27 0.04 0.2908 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.096003 NA NA 0.245738 0.059217 NA NA NA 4.128462 1247 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 1247 20 239697 239697 G C intronic DEFB132 NA NA NA intronic ENSG00000186458 NA NA NA NA NA 20p13 NA Name=SMC3_(ab9263),MafF_(M8194),Rad21,CTCF_(C-20),RFX5_(N-494),CTCF Name=68 NA rs399094 0.65 0.65 0.633 0.632588 0.6491 0.6458 0.5749 0.7027 0.5481 0.65 0.63 0.6 0.73 0.6076 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 0.051163 NA NA 0.615698 0.705856 NA 0.703 NA 4.127602 1247 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 1247 16 29998200 29998200 A G exonic TAOK2 NA synonymous SNV TAOK2:NM_016151:exon16:c.A2607G:p.T869T,TAOK2:NM_001252043:exon17:c.A2268G:p.T756T exonic ENSG00000149930 NA synonymous SNV ENSG00000149930:ENST00000416441:exon8:c.A2088G:p.T696T,ENSG00000149930:ENST00000308893:exon16:c.A2607G:p.T869T,ENSG00000149930:ENST00000543033:exon17:c.A2268G:p.T756T NA NA 16p11.2 NA NA NA NA rs4077410 0.48 0.48 0.474 0.484625 0.5249 0.379 0.4107 0.5408 0.5286 0.52 0.36 0.45 0.55 0.4922 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.041605 NA NA 0.522209 0.543468 ID=COSM1162477;OCCURENCE=1(pancreas) 0.486 NA 4.1273576 1247 6 90455084 90455084 A G exonic MDN1 NA synonymous SNV MDN1:NM_014611:exon29:c.T4086C:p.H1362H exonic ENSG00000112159 NA synonymous SNV ENSG00000112159:ENST00000369393:exon29:c.T4086C:p.H1362H,ENSG00000112159:ENST00000428876:exon29:c.T4086C:p.H1362H NA NA 6q15 NA NA Name=8 NA rs9359861 0.92 0.92 0.91 0.932308 0.837 0.997 0.928 0.9834 0.8978 0.84 1 0.91 0.98 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 -0.395233 NA NA 0.831279 0.963232 NA 0.928 NA 4.1265876 1247 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 1247 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 1247 6 32634387 32634387 C T UTR5 HLA-DQB1 NM_002123:c.-3G>A,NM_001243961:c.-3G>A NA NA UTR5 ENSG00000179344 ENST00000399084:c.-3G>A,ENST00000434651:c.-3G>A,ENST00000374943:c.-3G>A,ENST00000399079:c.-3G>A,ENST00000399082:c.-3G>A,ENST00000484729:c.-3G>A NA NA NA NA 6p21.32 NA Name=NF-YA,Pol2-4H8,NFKB,TAF1,RFX5_(N-494),POU2F2,Pol2,TBP,Oct-2 Name=52 NA rs1049055 0.79 0.79 0.75 0.821685 0.7803 0.9077 0.866 0.7201 0.8814 0.77 0.86 0.86 0.68 0.7463 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 0.284954 NA NA 0.681288 0.646722 NA 0.391 NA 4.1254454 1247 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 1247 19 55512316 55512316 T G UTR3 NLRP2 NM_001174081:c.*50T>G,NM_017852:c.*50T>G,NM_001174082:c.*50T>G,NM_001174083:c.*50T>G NA NA UTR3 ENSG00000022556 ENST00000543010:c.*50T>G,ENST00000391721:c.*50T>G,ENST00000339757:c.*50T>G,ENST00000537859:c.*50T>G,ENST00000448584:c.*50T>G,ENST00000427260:c.*50T>G,ENST00000538819:c.*50T>G,ENST00000263437:c.*50T>G NA NA NA NA 19q13.42 NA NA Name=2 NA rs1043678 0.35 0.35 0.332 0.326877 0.4215 0.2312 0.4366 0.2829 0.3098 0.42 0.21 0.44 0.33 0.3707 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2184 NA NA 0.41593 0.295052 NA 0.37 NA 4.1252034 1247 1 75681511 75681511 T C exonic SLC44A5 NA synonymous SNV SLC44A5:NM_001130058:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_152697:exon19:c.A1656G:p.Q552Q exonic ENSG00000137968 NA synonymous SNV ENSG00000137968:ENST00000535611:exon16:c.A1266G:p.Q422Q,ENSG00000137968:ENST00000370855:exon19:c.A1656G:p.Q552Q,ENSG00000137968:ENST00000370859:exon19:c.A1656G:p.Q552Q Score=635;Name=lod=508 NA 1p31.1 NA NA NA NA rs595009 0.89 0.89 0.892 0.896565 0.83 0.996 0.8862 0.8767 0.8967 0.85 0.99 0.88 0.84 0.868 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 -0.007581 NA NA 0.843568 0.860191 NA 0.87 NA 4.1250986 1247 16 70506907 70506907 T C exonic FUK NA synonymous SNV FUK:NM_145059:exon15:c.T1428C:p.P476P exonic ENSG00000157353 NA synonymous SNV ENSG00000157353:ENST00000288078:exon15:c.T1428C:p.P476P,ENSG00000157353:ENST00000378912:exon15:c.T1524C:p.P508P NA NA 16q22.1 NA NA NA NA rs7192865 0.61 0.61 0.584 0.578075 0.498 0.6607 0.5764 0.7821 0.3006 0.5 0.68 0.58 0.73 0.5579 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 -0.974005 NA NA 0.485745 0.75313 ID=COSM1128894;OCCURENCE=1(prostate) 0.5 NA 4.1250216 1248 10 128926013 128926013 A G exonic DOCK1 NA synonymous SNV DOCK1:NM_001380:exon27:c.A2769G:p.R923R exonic ENSG00000150760 NA synonymous SNV ENSG00000150760:ENST00000280333:exon27:c.A2769G:p.R923R Score=449;Name=lod=89 NA 10q26.2 NA NA NA NA rs1060561 0.76 0.76 0.744 0.74381 0.8648 0.8423 0.7853 0.438 0.9018 0.88 0.82 0.79 0.48 0.8192 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 0.821534 NA NA 0.857992 0.515261 NA 0.688 NA 4.1246746 1248 16 14014240 14014240 G A intronic ERCC4 NA NA NA intronic ENSG00000175595 NA NA NA NA NA 16p13.12 NA Name=NFKB,ETS1,Pol2 NA NA rs762521 0.21 0.21 0.222 0.220248 0.2763 0.2659 0.1254 0.1793 0.2382 0.25 0.26 0.14 0.15 0.333 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.672994 1.672994 NA 0.266373 0.162365 NA 0.225 NA 4.124327 1248 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 1248 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 1248 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 1248 8 22864622 22864622 T C exonic RHOBTB2 NA synonymous SNV RHOBTB2:NM_001160037:exon5:c.T885C:p.S295S,RHOBTB2:NM_015178:exon5:c.T864C:p.S288S,RHOBTB2:NM_001160036:exon7:c.T930C:p.S310S exonic ENSG00000008853 NA synonymous SNV ENSG00000008853:ENST00000251822:exon5:c.T864C:p.S288S,ENSG00000008853:ENST00000522948:exon5:c.T885C:p.S295S,ENSG00000008853:ENST00000519685:exon7:c.T930C:p.S310S Score=698;Name=lod=919 NA 8p21.3 NA NA NA NA rs2466178 0.89 0.89 0.894 0.88099 0.8489 0.9514 0.8862 0.8631 0.862 0.85 0.96 0.85 0.88 0.8563 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 0.732591 NA NA 0.838953 0.87222 NA 0.812 NA 4.1225136 1248 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 1248 19 2129473 2129473 T C intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA Name=GR NA NA rs758287 0.24 0.24 0.025 0.232228 0.4453 0.2014 0.2867 0.09 0.1984 0.36 0.19 0.28 0.08 0.3418 0.36 NA NA 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 0.090582 0.009911 NA NA NA 4.122318 1248 13 43788158 43788158 G A exonic ENOX1 NA synonymous SNV ENOX1:NM_001127615:exon17:c.C1900T:p.L634L,ENOX1:NM_001242863:exon17:c.C1900T:p.L634L,ENOX1:NM_017993:exon17:c.C1900T:p.L634L exonic ENSG00000120658 NA synonymous SNV ENSG00000120658:ENST00000412891:exon16:c.C1900T:p.L634L,ENSG00000120658:ENST00000261488:exon17:c.C1900T:p.L634L Score=580;Name=lod=303 NA 13q14.11 NA NA NA NA rs703207 0.77 0.77 0.768 0.731629 0.8797 0.7153 0.6758 0.6914 0.6902 0.88 0.72 0.75 0.7 0.7972 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 0.557902 NA NA 0.867674 0.713799 NA 0.681 NA 4.1220926 1248 11 45949534 45949534 C T exonic GYLTL1B NA synonymous SNV GYLTL1B:NM_152312:exon12:c.C1668T:p.F556F exonic ENSG00000165905 NA synonymous SNV ENSG00000165905:ENST00000325468:exon11:c.C1668T:p.F556F,ENSG00000165905:ENST00000401752:exon12:c.C1668T:p.F556F,ENSG00000165905:ENST00000531526:exon12:c.C1668T:p.F556F,ENSG00000165905:ENST00000536139:exon12:c.C1575T:p.F525F,ENSG00000165905:ENST00000529052:exon13:c.C1575T:p.F525F Score=530;Name=lod=190 NA 11p11.2 NA NA NA NA rs939105 0.6 0.6 0.587 0.584265 0.8996 0.4038 0.6326 0.3419 0.7393 0.91 0.35 0.65 0.37 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 -0.179757 NA NA 0.890789 0.401952 NA 0.572 NA 4.1220776 1248 5 134670656 134670656 A G UTR3 H2AFY NM_001040158:c.*10T>C,NM_138610:c.*10T>C,NM_138609:c.*10T>C,NM_004893:c.*10T>C NA NA UTR3 ENSG00000113648 ENST00000511689:c.*10T>C,ENST00000304332:c.*10T>C,ENST00000312469:c.*10T>C,ENST00000506671:c.*704T>C,ENST00000423969:c.*10T>C,ENST00000510038:c.*10T>C NA NA NA NA 5q31.1 NA NA NA NA rs73789312 0.07 0.07 0.069 0.0788738 0.0656 0.0556 0.0447 0.1256 0.0777 0.06 0.05 0.05 0.14 0.073 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.143614 NA NA 0.072674 0.120744 NA 0.051 NA 4.1220594 1248 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 1248 11 1252708 1252708 G C exonic MUC5B NA synonymous SNV MUC5B:NM_002458:exon14:c.G1596C:p.L532L exonic ENSG00000117983 NA synonymous SNV ENSG00000117983:ENST00000447027:exon14:c.G1605C:p.L535L,ENSG00000117983:ENST00000529681:exon14:c.G1596C:p.L532L NA NA 11p15.5 NA NA NA NA rs2735709 0.56 0.56 0.536 0.569489 0.498 0.6548 0.611 0.5726 0.5215 0.49 0.67 0.56 0.55 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 -1.111851 NA NA 0.50191 0.58491 NA 0.486 NA 4.1219566 1248 1 220269439 220269439 A T ncRNA_intronic RNU5F-1 NA NA NA intronic ENSG00000067704 NA NA NA NA NA 1q41 NA NA NA NA rs78836180 0.06 0.06 NA 0.0712859 0.0855 0.0516 0.0548 0.0204 0.1575 0.08 0.06 0.07 0.04 0.0809 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 0.42199 NA NA 0.045127 0.013857 NA 0.051 NA 4.1218063 1248 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 1248 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 1248 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 1248 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 1248 X 74494483 74494483 A G intronic UPRT NA NA NA intronic ENSG00000094841 NA NA NA NA NA Xq13.3 NA Name=PU.1,ELF1_(SC-631) Name=137 NA rs5981831 0.84 0.84 0.81955 NA NA NA NA NA NA 0.97 0.98 0.94 0.4 0.9084 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 1.165236 NA NA 0.972226 0.436159 NA 0.616 NA 4.119374 1248 7 141420768 141420768 A G exonic WEE2 NA synonymous SNV WEE2:NM_001105558:exon5:c.A792G:p.A264A exonic ENSG00000214102 NA synonymous SNV ENSG00000214102:ENST00000493845:exon2:c.A117G:p.A39A,ENSG00000214102:ENST00000397541:exon5:c.A792G:p.A264A NA NA 7q34 NA NA NA NA rs6967301 0.53 0.53 0.545 0.571885 0.5099 0.3343 0.4928 0.8101 0.6145 0.52 0.33 0.49 0.79 0.5333 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 -0.031907 NA NA 0.504254 0.762493 NA 0.601 NA 4.1192126 1248 6 29913042 29913042 C T exonic HLA-A NA synonymous SNV HLA-A:NM_001242758:exon7:c.C1077T:p.S359S,HLA-A:NM_002116:exon7:c.C1077T:p.S359S exonic ENSG00000206503 NA synonymous SNV ENSG00000206503:ENST00000376806:exon7:c.C1095T:p.S365S,ENSG00000206503:ENST00000376809:exon7:c.C1077T:p.S359S,ENSG00000206503:ENST00000396634:exon9:c.C1077T:p.S359S NA NA 6p22.1 NA Name=Pol2-4H8,Pol2 NA NA rs14288 0.9 0.9 0.899 0.925719 0.8479 0.9841 0.9078 0.9342 0.9468 0.83 0.98 0.89 0.94 0.8795 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 -0.354365 NA NA 0.820116 0.889923 NA 0.891 NA 4.1191506 1248 16 10575824 10575824 C A exonic ATF7IP2 NA synonymous SNV ATF7IP2:NM_024997:exon12:c.C1767A:p.P589P exonic ENSG00000166669 NA synonymous SNV ENSG00000166669:ENST00000543967:exon6:c.C399A:p.P133P,ENSG00000166669:ENST00000356427:exon10:c.C1767A:p.P589P,ENSG00000166669:ENST00000396560:exon12:c.C1767A:p.P589P NA NA 16p13.13 NA NA NA NA rs1970817 0.49 0.49 0.465 0.466054 0.5179 0.5704 0.5173 0.2958 0.499 0.55 0.56 0.47 0.34 0.5083 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.185112 NA NA 0.521395 0.331816 ID=COSM1179765;OCCURENCE=1(prostate) 0.623 NA 4.1190716 1248 5 52942083 52942083 A C exonic NDUFS4 NA synonymous SNV NDUFS4:NM_002495:exon3:c.A198C:p.G66G exonic ENSG00000164258 NA nonsynonymous SNV ENSG00000164258:ENST00000506974:exon4:c.A370C:p.S124R NA NA 5q11.2 NA NA NA NA rs31304 0.93 0.93 0.929 0.94349 0.9602 0.871 0.9726 0.9705 0.9438 0.96 0.83 0.96 0.97 0.9553 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 1.481877 1.481877 NA 0.965465 0.975261 NA 0.964 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117714.2;CLNDSDB=.;CLNDSDBID=. 4.119035 1248 12 85449465 85449465 T A exonic LRRIQ1 NA synonymous SNV LRRIQ1:NM_001079910:exon8:c.T894A:p.V298V exonic ENSG00000133640 NA synonymous SNV ENSG00000133640:ENST00000393217:exon8:c.T894A:p.V298V NA NA 12q21.31 NA NA NA NA rs7974418 0.58 0.58 0.592 0.595248 0.5239 0.4514 0.5533 0.9319 0.3916 0.51 0.41 0.54 0.92 0.5094 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 -1.283316 NA NA 0.514342 0.854318 NA 0.638 NA 4.1190246 1248 16 72827758 72827758 T C exonic ZFHX3 NA synonymous SNV ZFHX3:NM_001164766:exon8:c.A6081G:p.G2027G,ZFHX3:NM_006885:exon9:c.A8823G:p.G2941G exonic ENSG00000140836 NA synonymous SNV ENSG00000140836:ENST00000397992:exon8:c.A6081G:p.G2027G,ENSG00000140836:ENST00000268489:exon9:c.A8823G:p.G2941G Score=517;Name=lod=168 NA 16q22.2 NA NA NA NA rs699444 0.91 0.91 0.919 0.920727 0.833 0.998 0.8746 0.9917 0.8681 0.83 1 0.84 0.99 0.8771 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.015661 NA NA 0.837558 0.967698 NA 0.949 NA 4.1190086 1248 11 5700340 5700340 T C exonic TRIM5 NA synonymous SNV TRIM5:NM_033034:exon3:c.A477G:p.L159L,TRIM5:NM_033092:exon3:c.A477G:p.L159L,TRIM5:NM_033093:exon3:c.A477G:p.L159L exonic ENSG00000132256 NA synonymous SNV ENSG00000132256:ENST00000433961:exon2:c.A477G:p.L159L,ENSG00000132256:ENST00000305836:exon3:c.A477G:p.L159L,ENSG00000132256:ENST00000380034:exon3:c.A477G:p.L159L,ENSG00000132256:ENST00000396847:exon3:c.A477G:p.L159L,ENSG00000132256:ENST00000396853:exon3:c.A477G:p.L159L,ENSG00000132256:ENST00000396855:exon3:c.A477G:p.L159L,ENSG00000132256:ENST00000412903:exon4:c.A477G:p.L159L,ENSG00000132256:ENST00000380027:exon6:c.A477G:p.L159L NA NA 11p15.4 NA NA NA NA rs3740995 0.83 0.83 0.817 0.811901 0.8559 0.8304 0.8012 0.733 0.862 0.86 0.83 0.83 0.76 0.8384 0.86 . . . . . . . . 1.000 P . . . . . . . . . -0.052 3.748 0.605 -0.076 -0.650 3.082 -0.052157 NA NA 0.853968 0.713994 NA 0.775 NA 4.1183986 1248 19 2129474 2129474 C G intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA Name=GR NA NA rs758288 0.24 0.24 0.032 0.232228 0.4453 0.2014 0.2867 0.09 0.1984 0.36 0.19 0.28 0.08 0.3422 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.039983 NA NA 0.094297 0.009916 NA NA NA 4.118203 1248 12 121789927 121789927 C A intronic ANAPC5 NA NA NA intronic ENSG00000089053 NA NA NA NA NA 12q24.31 NA Name=c-Myc,Sin3Ak-20,ZBTB7A_(SC-34508),Pol2,HA-E2F1,CTCF,TAF1,BCLAF1_(M33-P5B11) 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 1248 8 27315900 27315900 A G exonic PTK2B NA synonymous SNV PTK2B:NM_173175:exon30:c.A2778G:p.L926L,PTK2B:NM_173176:exon31:c.A2904G:p.L968L,PTK2B:NM_004103:exon32:c.A2904G:p.L968L,PTK2B:NM_173174:exon36:c.A2904G:p.L968L exonic ENSG00000120899 NA synonymous SNV ENSG00000120899:ENST00000517339:exon29:c.A2778G:p.L926L,ENSG00000120899:ENST00000420218:exon30:c.A2778G:p.L926L,ENSG00000120899:ENST00000346049:exon31:c.A2904G:p.L968L,ENSG00000120899:ENST00000338238:exon35:c.A2778G:p.L926L,ENSG00000120899:ENST00000544172:exon35:c.A2904G:p.L968L,ENSG00000120899:ENST00000397501:exon36:c.A2904G:p.L968L Score=620;Name=lod=443 NA 8p21.2 NA NA NA NA rs1879181 0.75 0.75 0.771 0.791534 0.8499 0.5556 0.8156 0.879 0.8395 0.86 0.49 0.81 0.86 0.8334 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 0.871359 NA NA 0.865233 0.870404 NA 0.841 NA 4.1181336 1248 12 114393028 114393028 C G intronic RBM19 NA NA NA intronic ENSG00000122965 NA NA NA NA NA 12q24.21 NA Name=CTCF,CTCF_(SC-5916),CTCF_(C-20),CTCFL_(SC-98982) Name=50 NA rs1037747 0.78 0.78 0.778 0.805711 0.6083 0.9891 0.7723 0.8374 0.8006 0.6 0.98 0.75 0.83 0.6794 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 1.360821 1.360821 NA 0.594186 0.815252 NA 0.732 NA 4.118114 1248 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 1248 8 27315876 27315876 A G exonic PTK2B NA synonymous SNV PTK2B:NM_173175:exon30:c.A2754G:p.A918A,PTK2B:NM_173176:exon31:c.A2880G:p.A960A,PTK2B:NM_004103:exon32:c.A2880G:p.A960A,PTK2B:NM_173174:exon36:c.A2880G:p.A960A exonic ENSG00000120899 NA synonymous SNV ENSG00000120899:ENST00000517339:exon29:c.A2754G:p.A918A,ENSG00000120899:ENST00000420218:exon30:c.A2754G:p.A918A,ENSG00000120899:ENST00000346049:exon31:c.A2880G:p.A960A,ENSG00000120899:ENST00000338238:exon35:c.A2754G:p.A918A,ENSG00000120899:ENST00000544172:exon35:c.A2880G:p.A960A,ENSG00000120899:ENST00000397501:exon36:c.A2880G:p.A960A Score=620;Name=lod=443 NA 8p21.2 NA NA NA NA rs1879182 0.76 0.76 0.773 0.795128 0.8499 0.5556 0.8156 0.8926 0.8395 0.86 0.49 0.81 0.89 0.8338 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 1.400029 1.400029 NA 0.865349 0.876759 NA 0.841 NA 4.1176176 1248 2 26647277 26647277 T G exonic DRC1 NA synonymous SNV DRC1:NM_145038:exon4:c.T495G:p.A165A exonic ENSG00000157856 NA synonymous SNV ENSG00000157856:ENST00000288710:exon4:c.T495G:p.A165A NA NA 2p23.3 NA NA Name=3 NA rs7423300 0.61 0.61 0.57 0.623403 0.8817 0.3323 0.6571 0.5144 0.7812 0.89 0.28 0.72 0.49 0.7771 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 -0.082837 NA NA 0.890465 0.581253 NA 0.674 NA 4.1174016 1248 8 29005093 29005093 A G exonic KIF13B NA synonymous SNV KIF13B:NM_015254:exon17:c.T1840C:p.L614L exonic ENSG00000197892 NA synonymous SNV ENSG00000197892:ENST00000521515:exon17:c.T1840C:p.L614L,ENSG00000197892:ENST00000524189:exon17:c.T1840C:p.L614L Score=523;Name=lod=178 NA 8p12 NA NA NA NA rs6986672 0.74 0.74 0.71 0.732228 0.8698 0.4117 0.8386 0.7943 0.7618 0.87 0.43 0.84 0.8 0.814 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 -0.589784 NA NA 0.865966 0.815789 NA 0.804 NA 4.1169006 1248 10 101639796 101639796 G A exonic DNMBP NA synonymous SNV DNMBP:NM_015221:exon16:c.C4320T:p.S1440S exonic ENSG00000107554 NA synonymous SNV ENSG00000107554:ENST00000540316:exon8:c.C1128T:p.S376S,ENSG00000107554:ENST00000543621:exon13:c.C2058T:p.S686S,ENSG00000107554:ENST00000324109:exon16:c.C4320T:p.S1440S,ENSG00000107554:ENST00000342239:exon16:c.C4392T:p.S1464S NA NA 10q24.2 NA NA NA NA rs2255901 0.45 0.45 0.456 0.464457 0.5388 0.2679 0.4798 0.5386 0.4796 0.51 0.29 0.52 0.5 0.4878 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.022136 NA NA 0.523605 0.534725 ID=COSM1179742;OCCURENCE=1(prostate) 0.529 NA 4.1164616 1248 5 140307284 140307284 G A exonic PCDHAC1 NA synonymous SNV PCDHAC1:NM_018898:exon1:c.G807A:p.Q269Q,PCDHAC1:NM_031882:exon1:c.G807A:p.Q269Q exonic ENSG00000248383 NA synonymous SNV ENSG00000248383:ENST00000253807:exon1:c.G807A:p.Q269Q,ENSG00000248383:ENST00000409700:exon1:c.G807A:p.Q269Q NA NA 5q31.3 NA NA NA NA rs155361 0.58 0.58 0.577 0.572684 0.5169 0.6071 0.5865 0.7231 0.3814 0.52 0.61 0.51 0.67 0.525 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.992865 NA NA 0.508605 0.709487 NA 0.587 NA 4.1161616 1248 17 72521897 72521897 G A exonic CD300LB NA synonymous SNV CD300LB:NM_174892:exon2:c.C471T:p.I157I exonic ENSG00000178789 NA synonymous SNV ENSG00000178789:ENST00000314401:exon2:c.C471T:p.I157I,ENSG00000178789:ENST00000392621:exon2:c.C471T:p.I157I NA NA 17q25.1 NA NA NA NA rs17553512 0.33 0.33 0.318 0.30631 0.5497 0.2242 0.3818 0.0371 0.4509 0.55 0.24 0.4 0.03 0.4531 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307034 NA NA 0.547907 0.120971 NA 0.268 NA 4.1159596 1248 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 1248 10 102056970 102056970 A G intronic PKD2L1 NA NA NA intronic ENSG00000107593 NA NA NA NA NA 10q24.31 NA Name=CTCF NA NA rs2278841 0.43 0.43 0.118 0.415335 0.3936 0.497 0.4669 0.3964 0.3425 0.4 0.51 0.43 0.38 0.4138 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.806943 NA NA 0.077326 0.073536 NA NA NA 4.115274 1248 10 91066460 91066460 T A exonic IFIT2 NA synonymous SNV IFIT2:NM_001547:exon2:c.T747A:p.V249V exonic ENSG00000119922 NA synonymous SNV ENSG00000119922:ENST00000371826:exon2:c.T747A:p.V249V NA NA 10q23.31 NA NA NA NA rs954439 0.68 0.68 0.701 0.68131 0.5089 0.8571 0.4957 0.879 0.5419 0.51 0.84 0.5 0.89 0.5572 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 0.837399 NA NA 0.485305 0.826778 NA 0.587 NA 4.1152616 1248 7 157926349 157926349 T G intronic PTPRN2 NA NA NA intronic ENSG00000155093 NA NA NA NA NA 7q36.3 NA Name=CTCF,CTCF_(SC-5916),Rad21 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 1249 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 1249 7 102114087 102114087 C T UTR3 POLR2J NM_006234:c.*9G>A NA NA UTR3 ENSG00000005075 ENST00000292614:c.*9G>A,ENST00000393794:c.*9G>A NA NA NA NA 7q22.1 NA NA NA NA rs2229796 0.18 0.18 0.138 0.182508 0.0497 0.4573 0.2161 0.0908 0.136 0.05 0.45 0.14 0.08 0.1202 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.331536 NA NA 0.048721 0.095325 NA 0.094 NA 4.1147124 1249 1 150531050 150531050 G A exonic ADAMTSL4 NA synonymous SNV ADAMTSL4:NM_019032:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_025008:exon15:c.G2484A:p.P828P exonic ENSG00000143382 NA synonymous SNV ENSG00000143382:ENST00000369038:exon13:c.G2484A:p.P828P,ENSG00000143382:ENST00000271643:exon15:c.G2484A:p.P828P,ENSG00000143382:ENST00000369039:exon15:c.G2553A:p.P851P,ENSG00000143382:ENST00000369041:exon15:c.G2484A:p.P828P NA NA 1q21.3 Score=911;Name=V$ZIC3_01 NA NA NA rs10749657 0.88 0.88 0.871 0.878395 0.839 0.9831 0.8444 0.829 0.9018 0.86 0.98 0.83 0.85 0.8676 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 0.763898 NA NA 0.845814 0.839083 ID=COSM423780;OCCURENCE=1(breast) 0.877 NA 4.1142526 1249 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 1249 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 1249 7 21775443 21775443 G A exonic DNAH11 NA synonymous SNV DNAH11:NM_001277115:exon46:c.G7626A:p.T2542T exonic ENSG00000105877 NA synonymous SNV ENSG00000105877:ENST00000605912:exon1:c.G186A:p.T62T,ENSG00000105877:ENST00000409508:exon46:c.G7626A:p.T2542T,ENSG00000105877:ENST00000328843:exon47:c.G7647A:p.T2549T Score=486;Name=lod=126 NA 7p15.3 NA NA NA NA rs2072221 0.78 0.78 0.772 0.755391 0.8678 0.5327 0.8689 0.8003 0.728 0.88 0.54 0.86 0.83 0.8234 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 -0.534436 NA NA 0.862031 0.847804 NA 0.783 NA 4.1134356 1249 20 42089511 42089511 T C exonic SRSF6 NA synonymous SNV SRSF6:NM_006275:exon6:c.T843C:p.P281P exonic ENSG00000124193 NA synonymous SNV ENSG00000124193:ENST00000244020:exon6:c.T843C:p.P281P Score=571;Name=lod=279 NA 20q13.11 NA NA NA NA rs2235611 0.85 0.85 0.864 0.821685 0.8638 0.6865 0.9438 0.9735 0.6258 0.86 0.68 0.93 0.98 0.8368 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 -0.046171 NA NA 0.854767 0.960054 NA 0.906 NA 4.1112996 1249 17 80899281 80899281 G A exonic TBCD NA synonymous SNV TBCD:NM_005993:exon38:c.G3486A:p.A1162A exonic ENSG00000141556 NA synonymous SNV ENSG00000141556:ENST00000577051:exon7:c.G690A:p.A230A,ENSG00000141556:ENST00000355528:exon38:c.G3486A:p.A1162A,ENSG00000141556:ENST00000539345:exon39:c.G3600A:p.A1200A NA NA 17q25.3 NA NA NA NA rs9390 0.45 0.45 0.413 0.429912 0.5507 0.5486 0.4798 0.1997 0.4591 0.53 0.53 0.51 0.2 0.5224 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052527 NA NA 0.482771 0.226504 NA 0.428 NA 4.1107956 1249 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 1249 16 23223300 23223300 T C intronic SCNN1G NA NA NA ncRNA_intronic ENSG00000260741 NA NA NA NA NA 16p12.2 NA NA NA NA rs9931527 0.18 0.18 0.171 0.154952 0.2227 0.0585 0.1441 0.2542 0.0583 0.22 0.07 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 0.684706 NA NA NA NA NA 0.13 NA 4.1106333 1249 18 32335915 32335915 A G intronic DTNA NA NA NA ncRNA_intronic ENSG00000268873 NA NA NA NA NA 18q12.1 NA NA NA NA rs6650658 0.07 0.07 0.066 0.0479233 0.0805 0.001 0.0432 0.0915 0.0072 0.08 NA 0.04 0.14 0.0644 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.326388 NA NA 0.078041 0.09941 NA 0.065 NA 4.1103923 1249 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 1249 17 17997209 17997209 G A exonic DRG2 NA synonymous SNV DRG2:NM_001388:exon2:c.G147A:p.S49S exonic ENSG00000108591 NA synonymous SNV ENSG00000108591:ENST00000225729:exon2:c.G147A:p.S49S,ENSG00000108591:ENST00000395726:exon2:c.G147A:p.S49S,ENSG00000108591:ENST00000467099:exon2:c.G147A:p.S49S,ENSG00000108591:ENST00000496428:exon2:c.G147A:p.S49S,ENSG00000108591:ENST00000577450:exon2:c.G147A:p.S49S,ENSG00000108591:ENST00000579224:exon2:c.G147A:p.S49S,ENSG00000108591:ENST00000579601:exon2:c.G147A:p.S49S,ENSG00000108591:ENST00000580055:exon2:c.G147A:p.S49S,ENSG00000108591:ENST00000580929:exon2:c.G147A:p.S49S,ENSG00000108591:ENST00000582314:exon2:c.G147A:p.S49S,ENSG00000108591:ENST00000583355:exon2:c.G147A:p.S49S NA NA 17p11.2 NA NA NA NA rs2230316 0.3 0.3 0.297 0.2498 0.5358 0.0645 0.3804 0.1467 0.1933 0.55 0.04 0.41 0.15 0.4348 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.882984 NA NA 0.587558 0.205629 NA 0.391 NA 4.1085086 1249 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 1249 14 69117512 69117512 T C intergenic RAD51B,ZFP36L1 dist=54774;dist=136860 NA NA exonic ENSG00000182185 NA nonsynonymous SNV ENSG00000182185:ENST00000390683:exon10:c.T1051C:p.C351R,ENSG00000182185:ENST00000488612:exon11:c.T1051C:p.C351R NA NA 14q24.1 NA NA NA NA rs8023214 0.51 0.51 0.527 0.528554 0.5736 0.2956 0.5562 0.7194 0.4448 0.56 0.23 0.51 0.76 0.5641 0.76 0.3 T 0.001 B 0.001 B . . 1.000 P . . 1.23 T -1.015 T 0.000 T 0.063 -0.594 1.342 -0.125 -0.281 0.189 5.264 -0.593751 NA 0 0.587393 0.696347 NA 0.667 NA 4.1082404 1249 1 26110298 26110298 G A UTR3 MAN1C1 NM_020379:c.*18G>A NA NA UTR3 ENSG00000117643 ENST00000374332:c.*18G>A,ENST00000263979:c.*18G>A,ENST00000374329:c.*18G>A NA NA NA NA 1p36.11 NA NA NA NA rs116631146 0.03 0.03 0.031 0.0251597 0.0706 0.003 0.0389 0.003 0.0215 0.07 0.0035 0.04 0.01 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 -0.516913 NA NA 0.090242 0.020663 NA NA NA 4.1080914 1249 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 1249 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 1249 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 1249 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 1249 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,PAX5-N19,IRF1,SP1,Oct-2,Sin3Ak-20,PAX5-C20,NFKB,TAF1,Pol2-4H8,HEY1,Pol2,POU2F2 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 1249 17 80014861 80014861 T G intronic GPS1 NA NA NA intronic ENSG00000169727 NA NA NA NA NA 17q25.3 NA Name=Pol2 Name=6 NA rs4969484 0.59 0.59 0.587 0.58726 0.6243 0.3095 0.6369 0.826 0.4775 0.64 0.32 0.64 0.81 0.6176 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 -0.426752 NA NA 0.653059 0.799138 NA 0.601 NA 4.105041 1250 12 7055860 7055860 T C UTR5 PTPN6 NM_080548:c.-29T>C NA NA UTR5 ENSG00000111679 ENST00000543115:c.-29T>C,ENST00000542848:c.-29T>C,ENST00000399448:c.-29T>C,ENST00000447931:c.-29T>C NA NA NA NA 12p13.31 NA Name=Pol2,Pol2(phosphoS2),Pol2-4H8,TAF1,BCL3,HEY1,IRF1,TBP Name=71 NA rs2301262 0.78 0.78 0.779 0.753994 0.7505 0.7887 0.8516 0.7769 0.6217 0.74 0.78 0.86 0.77 0.7434 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 -0.407217 NA NA 0.73455 0.776847 NA 0.768 NA 4.1048834 1250 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=ELF1_(SC-631),ETS1,HMGN3,TAF1,NFKB,Pol2-4H8,GABP,TAF7_(SQ-8),Pol2,USF-1,HA-E2F1,ELK4,Pol2(b),CCNT2,TBP,YY1,Sin3Ak-20,PAX5-C20,YY1_(C-20),c-Myc 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 1250 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 1250 18 19444661 19444661 A C UTR3 MIB1 NM_020774:c.*34A>C NA NA UTR3 ENSG00000101752 ENST00000261537:c.*34A>C NA NA NA NA 18q11.2 NA NA NA NA rs76056004 0.08 0.08 0.079 0.0856629 0.0726 0.0298 0.0749 0.1513 0.0757 0.07 0.02 0.11 0.14 0.075 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.340878 NA NA 0.081512 0.123014 NA 0.109 NA 4.1042214 1250 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 1250 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 1250 19 13044544 13044544 C A UTR5 FARSA NM_004461:c.-34G>T NA NA intronic ENSG00000179115 NA NA NA NA NA 19p13.2 NA Name=Sin3Ak-20,SIX5,Mxi1_(bHLH),NRSF,PAX5-C20,Max,YY1_(C-20),Oct-2,c-Myc,IRF1,XRCC4,GTF2F1_(RAP-74),Pol2(b),ELK4,PAX5-N19,TR4,CCNT2,TBP,CEBPB,YY1,Ini1,TCF12,TAF7_(SQ-8),POU2F2,USF2,Pol2,USF-1,USF1_(SC-8983),HA-E2F1,ELF1_(SC-631),GRp20,HEY1,TAF1,HMGN3,ZEB1_(SC-25388),NFKB,Znf143_(16618-1-AP),GABP,Pol2-4H8 Name=148 NA rs2974750 0.75 0.75 0.747 0.747005 0.6869 0.8482 0.572 0.823 0.726 0.7 0.85 0.6 0.84 0.7048 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 -0.786373 NA NA 0.671439 0.798514 NA 0.761 NA 4.1035277 1250 9 125391875 125391875 G A upstream OR1B1 NA NA NA ncRNA_intronic ENSG00000234156 NA NA NA NA NA 9q33.2 NA NA NA NA rs17649473 0.03 0.03 0.035 0.0277556 0.0636 0.005 0.0461 0.003 0.0348 0.07 0.0035 0.05 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 -0.741051 NA NA NA NA NA 0.007 NA 4.1030666 1250 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 1250 19 49217261 49217261 A G exonic MAMSTR NA synonymous SNV MAMSTR:NM_182574:exon6:c.T456C:p.R152R,MAMSTR:NM_001130915:exon8:c.T765C:p.R255R exonic ENSG00000176909 NA synonymous SNV ENSG00000176909:ENST00000594582:exon5:c.T261C:p.R87R,ENSG00000176909:ENST00000356751:exon6:c.T456C:p.R152R,ENSG00000176909:ENST00000377367:exon7:c.T261C:p.R87R,ENSG00000176909:ENST00000318083:exon8:c.T765C:p.R255R,ENSG00000176909:ENST00000419611:exon8:c.T456C:p.R152R NA NA 19q13.33 NA Name=Pol2,EBF1_(C-8),TAF1,HEY1,c-Myc,NF-YB,ZBTB7A_(SC-34508) NA NA rs281385 0.84 0.84 0.84 0.79393 0.8628 0.8621 0.8213 0.7821 0.6493 0.85 0.86 0.86 0.8 0.8272 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 1.064455 NA NA 0.873953 0.761008 NA 0.667 NA 4.1027136 1250 19 49949589 49949589 A T UTR3 PIH1D1 NM_017916:c.*50T>A NA NA UTR3 ENSG00000104872 ENST00000596916:c.*471T>A,ENST00000262265:c.*50T>A,ENST00000596651:c.*318T>A,ENST00000600875:c.*50T>A,ENST00000598889:c.*318T>A,ENST00000594845:c.*292T>A,ENST00000597577:c.*321T>A,ENST00000598175:c.*219T>A NA NA NA NA 19q13.33 NA Name=CTCFL_(SC-98982),ZNF263,CTCF NA NA rs1043263 0.27 0.27 0.245 0.287141 0.4254 0.3343 0.2104 0.0212 0.5102 0.41 0.3 0.25 0.03 0.3803 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450055 NA NA 0.425233 0.085792 NA 0.312 NA 4.1024004 1250 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 1250 3 183996068 183996068 C T exonic ECE2 NA synonymous SNV ECE2:NM_001037324:exon5:c.C630T:p.A210A,ECE2:NM_001100120:exon6:c.C855T:p.A285A,ECE2:NM_001100121:exon6:c.C717T:p.A239A,ECE2:NM_014693:exon6:c.C1071T:p.A357A exonic ENSG00000145194 NA synonymous SNV ENSG00000145194:ENST00000359140:exon5:c.C630T:p.A210A,ENSG00000145194:ENST00000430587:exon5:c.C693T:p.A231A,ENSG00000145194:ENST00000357474:exon6:c.C855T:p.A285A,ENSG00000145194:ENST00000402825:exon6:c.C1071T:p.A357A,ENSG00000145194:ENST00000404464:exon6:c.C717T:p.A239A NA NA 3q27.1 NA NA NA NA rs3752904 0.53 0.53 0.559 0.501997 0.5308 0.4157 0.6095 0.593 0.362 0.53 0.48 0.57 0.57 0.5102 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.004107 NA NA 0.523721 0.605084 NA 0.522 NA 4.1019456 1250 18 14999934 14999934 G A intergenic ANKRD30B,LOC644669 dist=147197;dist=313621 NA NA intergenic ENSG00000263821,ENSG00000266522 dist=20096;dist=4040 NA NA Score=623;Name=lod=455 NA 18p11.21 NA NA NA NA rs62087315 0.18 0.18 0.167 0.183307 0.2316 0.2391 0.2723 0.0151 0.2403 0.24 0.2 0.24 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 0.649183 NA NA NA NA NA 0.181 NA 4.1017334 1250 19 38993372 38993372 A G intronic RYR1 NA NA NA intronic ENSG00000196218 NA NA NA NA NA 19q13.2 NA NA NA NA rs1469695 0.37 0.37 0.303 0.421925 0.3141 0.3571 0.4193 0.5129 0.4785 0.32 0.33 0.38 0.5 0.3366 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.451533 NA NA 0.248197 0.442351 NA 0.21 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|not;CLNACC=RCV000079170.1|RCV000119729.1;CLNDSDB=.|.;CLNDSDBID=.|. 4.101103 1250 19 12975599 12975599 G A intronic MAST1 NA NA NA intronic ENSG00000105613 NA NA NA NA NA 19p13.2 NA Name=FOXA1_(SC-101058),CTCF,CEBPB,TCF4,Rad21 NA NA rs2242512 0.41 0.41 0.394 0.414337 0.2913 0.62 0.3285 0.3457 0.4826 0.28 0.67 0.29 0.38 0.3366 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 -0.549515 NA NA 0.271047 0.350431 NA 0.37 NA 4.101053 1250 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 1250 1 85036239 85036239 C G intronic CTBS NA NA NA intronic ENSG00000117151 NA NA NA NA NA 1p22.3 NA NA Name=55 NA rs2303306 0.39 0.39 0.419 0.440495 0.2734 0.2431 0.3617 0.7625 0.4366 0.28 0.22 0.37 0.76 0.3371 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 0.393138 NA NA 0.288953 0.679155 NA 0.435 NA 4.100547 1250 7 94043274 94043274 A G intronic COL1A2 NA NA NA intronic ENSG00000164692 NA NA NA NA NA 7q21.3 NA NA Name=7 NA rs421587 0.25 0.25 0.237 0.247005 0.3201 0.1657 0.268 0.2474 0.2403 0.32 0.17 0.25 0.22 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 0.234263 NA NA 0.303605 0.260327 ID=COSN168143;OCCURENCE=1(large_intestine) 0.232 NA 4.100195 1250 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 1250 3 132075707 132075707 A G exonic ACPP NA synonymous SNV ACPP:NM_001099:exon10:c.A1146G:p.E382E exonic ENSG00000014257 NA synonymous SNV ENSG00000014257:ENST00000475741:exon9:c.A1047G:p.E349E,ENSG00000014257:ENST00000336375:exon10:c.A1146G:p.E382E NA NA 3q22.1 NA NA NA NA rs2071505 0.37 0.37 0.345 0.396166 0.5378 0.119 0.4827 0.3608 0.5225 0.53 0.1 0.5 0.35 0.4718 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.051296 NA NA 0.558256 0.38788 NA 0.362 NA 4.0988106 1250 10 128202435 128202435 T C exonic C10orf90 NA synonymous SNV C10orf90:NM_001004298:exon2:c.A96G:p.A32A exonic ENSG00000154493 NA synonymous SNV ENSG00000154493:ENST00000284694:exon2:c.A96G:p.A32A,ENSG00000154493:ENST00000432642:exon2:c.A96G:p.A32A,ENSG00000154493:ENST00000454341:exon2:c.A96G:p.A32A,ENSG00000154493:ENST00000463082:exon2:c.A96G:p.A32A,ENSG00000154493:ENST00000544758:exon3:c.A387G:p.A129A Score=284;Name=lod=19 NA 10q26.2 NA NA NA NA rs1436803 0.86 0.86 0.858 0.875998 0.8569 0.8571 0.8631 0.9145 0.8722 0.86 0.83 0.87 0.9 0.8609 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 -0.099613 NA NA 0.850116 0.910123 NA 0.906 NA 4.0987506 1250 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 1250 15 99671760 99671760 T C exonic SYNM NA unknown UNKNOWN exonic ENSG00000182253 NA synonymous SNV ENSG00000182253:ENST00000560674:exon4:c.T2337C:p.F779F,ENSG00000182253:ENST00000328642:exon5:c.T3192C:p.F1064F,ENSG00000182253:ENST00000336292:exon5:c.T3192C:p.F1064F Score=435;Name=lod=78 NA 15q26.3 NA NA NA NA rs260087 0.76 0.76 0.76 0.774161 0.7515 0.7272 0.7421 0.8828 0.7219 0.74 0.73 0.74 0.85 0.7473 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 1.9168 1.9168 NA 0.736541 0.874265 NA 0.623 NA 4.0979923 1250 19 41096189 41096189 A G exonic SHKBP1 NA synonymous SNV SHKBP1:NM_138392:exon16:c.A1629G:p.T543T exonic ENSG00000160410 NA synonymous SNV ENSG00000160410:ENST00000597396:exon4:c.A342G:p.T114T,ENSG00000160410:ENST00000291842:exon16:c.A1629G:p.T543T,ENSG00000160410:ENST00000600733:exon16:c.A1554G:p.T518T NA NA 19q13.2 NA NA NA NA rs396118 0.54 0.54 0.532 0.577875 0.501 0.4107 0.5 0.8222 0.5542 0.51 0.36 0.52 0.81 0.5712 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 -0.44176 NA NA 0.496624 0.771611 ID=COSM439545;OCCURENCE=1(breast),1(prostate) 0.565 NA 4.0978426 1250 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 1250 17 79612443 79612443 T C exonic TSPAN10 NA unknown UNKNOWN exonic ENSG00000182612 NA synonymous SNV ENSG00000182612:ENST00000328585:exon2:c.T462C:p.S154S NA NA 17q25.3 NA NA NA NA rs7210193 0.63 0.63 0.589 0.669728 0.327 0.996 0.6354 0.6982 0.6718 0.34 1 0.57 0.68 0.5276 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.230242 NA NA 0.381157 0.607576 ID=COSM1387328;OCCURENCE=1(large_intestine) 0.536 NA 4.0975763 1250 12 56711371 56711371 C T UTR3 PAN2 NM_001166279:c.*22G>A,NM_001127460:c.*22G>A,NM_014871:c.*22G>A NA NA UTR3 ENSG00000135473 ENST00000425394:c.*22G>A,ENST00000440411:c.*22G>A,ENST00000257931:c.*22G>A,ENST00000548043:c.*22G>A NA NA NA NA 12q13.3 NA NA NA NA rs3809129 0.14 0.14 0.105 0.183706 0.0547 0.3671 0.2133 0.0106 0.3405 0.06 0.31 0.2 0.02 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 -1.035138 NA NA 0.052442 0.016568 NA 0.058 NA 4.0973914 1250 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 1250 17 1690305 1690305 G T intronic SMYD4 NA NA NA intronic ENSG00000186532 NA NA NA NA NA 17p13.3 NA NA Name=15 NA rs117380376 NA NA NA 0.252796 0.3936 0.245 0.2349 0.2163 0.1779 NA NA NA NA 0.5098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.123525 2.123525 NA NA NA NA NA NA 4.0966 1250 1 109815252 109815252 A G intronic CELSR2 NA NA NA intronic ENSG00000143126 NA NA NA NA NA 1p13.3 NA Name=GR NA NA rs611917 0.25 0.25 0.231 0.245008 0.3131 0.0437 0.2651 0.3154 0.273 0.32 0.05 0.25 0.37 0.2865 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.934143 1.934143 NA 0.304024 0.335452 NA 0.319 NA 4.096376 1250 7 154667628 154667628 A G exonic DPP6 NA synonymous SNV DPP6:NM_001039350:exon20:c.A1704G:p.P568P,DPP6:NM_001936:exon20:c.A1710G:p.P570P,DPP6:NM_130797:exon20:c.A1896G:p.P632P exonic ENSG00000130226 NA synonymous SNV ENSG00000130226:ENST00000427557:exon18:c.A1575G:p.P525P,ENSG00000130226:ENST00000332007:exon20:c.A1710G:p.P570P,ENSG00000130226:ENST00000377770:exon20:c.A1896G:p.P632P,ENSG00000130226:ENST00000404039:exon20:c.A1704G:p.P568P NA NA 7q36.2 NA NA NA NA rs2293353 0.6 0.6 0.555 0.58726 0.5219 0.5625 0.5937 0.7685 0.4305 0.53 0.55 0.59 0.76 0.5314 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 -1.10815 NA NA 0.517328 0.730639 NA 0.558 NA 4.0960386 1250 5 147803557 147803557 G T intronic FBXO38 NA NA NA intronic ENSG00000145868 NA NA NA Score=503;Name=lod=147 NA 5q32 NA NA NA NA rs11168047 0.48 0.48 0.505 0.504193 0.2584 0.5962 0.3847 0.7678 0.3906 0.27 0.59 0.4 0.73 0.3681 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 0.666678 NA NA 0.277907 0.676577 ID=COSM149979;OCCURENCE=1(stomach) 0.37 NA 4.095593 1250 11 120776001 120776001 G A exonic GRIK4 NA synonymous SNV GRIK4:NM_014619:exon11:c.G1275A:p.E425E exonic ENSG00000149403 NA synonymous SNV ENSG00000149403:ENST00000438375:exon12:c.G1275A:p.E425E,ENSG00000149403:ENST00000527524:exon13:c.G1275A:p.E425E Score=687;Name=lod=828 NA 11q23.3 NA NA NA NA rs2156634 0.89 0.89 0.896 0.877995 0.8638 0.9157 0.8084 0.9508 0.8047 0.87 0.92 0.83 0.95 0.8555 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 1.565357 1.565357 NA 0.851826 0.937131 NA 0.935 NA 4.0955406 1250 19 3740658 3740658 T G exonic TJP3 NA synonymous SNV TJP3:NM_001267560:exon14:c.T1740G:p.L580L,TJP3:NM_001267561:exon14:c.T1767G:p.L589L exonic ENSG00000105289 NA synonymous SNV ENSG00000105289:ENST00000262968:exon13:c.T1839G:p.L613L,ENSG00000105289:ENST00000539908:exon13:c.T1632G:p.L544L,ENSG00000105289:ENST00000587686:exon13:c.T1797G:p.L599L,ENSG00000105289:ENST00000382008:exon14:c.T1782G:p.L594L,ENSG00000105289:ENST00000541714:exon14:c.T1740G:p.L580L,ENSG00000105289:ENST00000589378:exon14:c.T1767G:p.L589L NA NA 19p13.3 NA NA NA NA rs10416362 0.53 0.53 0.509 0.551318 0.5099 0.5228 0.5865 0.5121 0.6513 0.5 0.59 0.54 0.51 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 -0.65897 NA NA 0.521299 0.525443 ID=COSM439330;OCCURENCE=1(breast) 0.536 NA 4.0954676 1250 2 73471653 73471653 T G intronic CCT7 NA NA NA intronic ENSG00000135624 NA NA NA NA NA 2p13.2 NA Name=GATA-2 NA NA rs1018342 0.29 0.29 0.27 0.254393 0.3062 0.3671 0.2939 0.118 0.2413 0.28 0.4 0.33 0.13 0.2934 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.010701 3.010701 NA 0.305018 0.1515 ID=COSN166141;OCCURENCE=1(NS) 0.355 NA 4.095382 1250 17 47484228 47484228 G C intronic PHB NA NA NA intronic ENSG00000167085,ENSG00000262039 NA NA NA Score=577;Name=lod=295 NA 17q21.33 NA NA NA NA rs2233667 0.2 0.2 0.184 0.154952 0.325 0.1994 0.1556 0.0151 0.1227 0.32 0.18 0.2 0.03 0.2534 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.347305 3.347305 NA 0.326395 0.067181 NA 0.283 NA 4.095205 1250 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 1251 6 70944442 70944442 G C intronic COL9A1 NA NA NA ncRNA_intronic ENSG00000253809 NA NA NA NA NA 6q13 NA NA NA NA rs10945205 0.12 0.12 0.098 0.106629 0.2386 0.0337 0.111 0.0219 0.1575 0.23 0.04 0.13 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 -0.506364 NA NA NA NA NA 0.123 NA 4.0947333 1251 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 1251 2 43931176 43931176 T C exonic PLEKHH2 NA synonymous SNV PLEKHH2:NM_172069:exon9:c.T1707C:p.N569N exonic ENSG00000152527 NA synonymous SNV ENSG00000152527:ENST00000282406:exon9:c.T1707C:p.N569N NA NA 2p21 NA NA NA NA rs4953002 0.43 0.43 0.44 0.447883 0.5408 0.1319 0.4337 0.6029 0.4785 0.54 0.13 0.47 0.61 0.5006 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.182859 NA NA 0.531047 0.581707 ID=COSM442919;OCCURENCE=1(breast) 0.457 NA 4.0942196 1251 20 18005600 18005600 A C intronic OVOL2 NA NA NA intronic ENSG00000125850 NA NA NA Score=363;Name=lod=40 NA 20p11.23 NA Name=MafK_(SC-477),MafF_(M8194),MafK_(ab50322) NA NA rs2281543 0.69 0.69 0.667 0.689297 0.6302 0.7867 0.6729 0.6324 0.7382 0.65 0.78 0.64 0.67 0.6553 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 1.597895 1.597895 NA 0.621163 0.640036 NA 0.529 NA 4.093337 1251 X 30577846 30577846 A C exonic CXorf21 NA synonymous SNV CXorf21:NM_025159:exon3:c.T627G:p.V209V exonic ENSG00000120280 NA synonymous SNV ENSG00000120280:ENST00000378962:exon3:c.T627G:p.V209V NA NA Xp21.2 NA NA NA NA rs887369 0.88 0.88 0.87599 NA NA NA NA NA NA 0.77 0.96 0.9 0.92 0.8242 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 0.006947 NA NA 0.749554 0.900339 NA 0.667 NA 4.0929126 1251 15 100821426 100821426 G A intronic ADAMTS17 NA NA NA intronic ENSG00000140470 NA NA NA NA NA 15q26.3 Score=851;Name=V$GR_Q6 NA NA NA rs7496614 0.29 0.29 0.254 0.346845 0.3012 0.2788 0.3401 0.3419 0.4755 0.29 0.24 0.31 0.32 0.3188 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696787 NA NA 0.287791 0.317295 NA 0.377 NA 4.092209 1251 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 1251 1 207812791 207812791 A G UTR3 CR1 NM_000651:c.*37A>G,NM_000573:c.*37A>G NA NA UTR3 ENSG00000203710 ENST00000367053:c.*37A>G,ENST00000367051:c.*37A>G,ENST00000367052:c.*37A>G,ENST00000400960:c.*37A>G NA NA NA NA 1q32.2 NA NA NA NA rs41274776 0.13 0.13 0.114 0.119609 0.0676 0.3264 0.0533 0.0189 0.1431 0.07 0.34 0.05 0.03 0.1116 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259937 NA NA 0.062104 0.030851 NA 0.08 NA 4.0920294 1251 1 248550894 248550894 T G upstream OR2T6 NA NA NA upstream ENSG00000198104 NA NA NA Score=235;Name=lod=12 NA 1q44 NA NA NA NA rs7418152 0.34 0.34 0.364 0.377596 0.1769 0.4375 0.3156 0.5242 0.3681 0.19 0.42 0.27 0.53 0.2471 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.431959 2.431959 NA 0.150698 0.453473 NA 0.239 NA 4.0919686 1251 1 161013121 161013121 C T UTR5 USF1 NM_007122:c.-56G>A,NM_001276373:c.-56G>A,NM_207005:c.-1117G>A NA NA UTR5 ENSG00000158773 ENST00000368021:c.-56G>A,ENST00000368020:c.-56G>A,ENST00000435396:c.-1117G>A,ENST00000368019:c.-56G>A,ENST00000473969:c.-56G>A,ENST00000531842:c.-56G>A,ENST00000534633:c.-1117G>A NA NA Score=251;Name=lod=14 NA 1q23.3 NA NA NA NA rs2516839 0.43 0.43 0.414 0.396765 0.6292 0.3333 0.4654 0.1846 0.4611 0.62 0.33 0.48 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 3.286383 3.286383 NA 0.612194 0.268064 NA 0.464 NA 4.0919394 1251 10 30306804 30306804 G A UTR3 KIAA1462 NM_020848:c.*8C>T NA NA UTR3 ENSG00000165757 ENST00000375377:c.*8C>T NA NA NA NA 10p11.23 NA NA Name=10 NA rs2478839 0.3 0.3 0.255 0.264377 0.4274 0.1964 0.4539 0.0862 0.273 0.43 0.2 0.43 0.1 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 1.086873 NA NA 0.43261 0.140384 NA 0.326 NA 4.0917234 1251 10 85974236 85974236 T C exonic CDHR1 NA synonymous SNV CDHR1:NM_033100:exon17:c.T2439C:p.T813T exonic ENSG00000148600 NA synonymous SNV ENSG00000148600:ENST00000440770:exon10:c.T1551C:p.T517T,ENSG00000148600:ENST00000372117:exon17:c.T2439C:p.T813T NA NA 10q23.1 NA NA NA NA rs3814213 0.56 0.56 0.578 0.573682 0.5189 0.4107 0.5692 0.829 0.456 0.52 0.38 0.55 0.84 0.5341 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 -0.603772 NA NA 0.522326 0.766001 NA 0.522 NA 4.0913406 1251 10 49687800 49687800 G A exonic ARHGAP22 NA synonymous SNV ARHGAP22:NM_001256026:exon2:c.C60T:p.A20A,ARHGAP22:NM_001256024:exon4:c.C330T:p.A110A,ARHGAP22:NM_001256025:exon4:c.C348T:p.A116A,ARHGAP22:NM_021226:exon4:c.C330T:p.A110A exonic ENSG00000128805 NA synonymous SNV ENSG00000128805:ENST00000374170:exon2:c.C60T:p.A20A,ENSG00000128805:ENST00000417247:exon2:c.C60T:p.A20A,ENSG00000128805:ENST00000249601:exon4:c.C330T:p.A110A,ENSG00000128805:ENST00000417912:exon4:c.C330T:p.A110A,ENSG00000128805:ENST00000435790:exon4:c.C348T:p.A116A,ENSG00000128805:ENST00000460425:exon5:c.C348T:p.A116A Score=525;Name=lod=182 NA 10q11.22 NA NA NA NA rs4080665 0.8 0.8 0.801 0.789337 0.8678 0.9425 0.8761 0.4894 0.8947 0.87 0.93 0.86 0.5 0.8574 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 1.577778 1.577778 NA 0.850396 0.55293 NA 0.725 NA 4.0910706 1251 4 186382206 186382206 A G exonic CCDC110 NA synonymous SNV CCDC110:NM_152775:exon5:c.T345C:p.D115D exonic ENSG00000168491 NA synonymous SNV ENSG00000168491:ENST00000307588:exon5:c.T345C:p.D115D,ENSG00000168491:ENST00000506876:exon5:c.T345C:p.D115D,ENSG00000168491:ENST00000510617:exon5:c.T345C:p.D115D NA NA 4q35.1 NA NA NA NA rs11132309 0.39 0.39 0.368 0.384185 0.5388 0.2827 0.3631 0.2784 0.4877 0.53 0.28 0.41 0.3 0.4751 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.481255 NA NA 0.562122 0.326975 NA 0.428 NA 4.0906446 1251 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 1251 3 140167536 140167536 A G exonic CLSTN2 NA synonymous SNV CLSTN2:NM_022131:exon6:c.A963G:p.Q321Q exonic ENSG00000158258 NA synonymous SNV ENSG00000158258:ENST00000458420:exon6:c.A963G:p.Q321Q Score=445;Name=lod=86 NA 3q23 NA NA NA NA rs2081803 0.83 0.83 0.85 0.847244 0.8648 0.6528 0.8573 0.9902 0.8292 0.85 0.66 0.85 0.99 0.8504 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 0.888084 NA NA 0.861163 0.969814 NA 0.848 NA 4.0903036 1251 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 1251 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 1251 20 24939590 24939590 G C exonic CST7 NA synonymous SNV CST7:NM_003650:exon3:c.G270C:p.L90L exonic ENSG00000077984 NA synonymous SNV ENSG00000077984:ENST00000376835:exon3:c.G336C:p.L112L,ENSG00000077984:ENST00000480798:exon3:c.G270C:p.L90L NA NA 20p11.21 NA NA NA NA rs1056033 0.6 0.6 0.547 0.591653 0.5229 0.9325 0.6354 0.3374 0.6237 0.52 0.92 0.6 0.34 0.5609 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 -1.494106 NA NA 0.493372 0.342488 NA 0.638 NA 4.0894946 1251 19 44570551 44570551 G A exonic ZNF223 NA synonymous SNV ZNF223:NM_013361:exon5:c.G570A:p.A190A exonic ENSG00000178386,ENSG00000267022 NA synonymous SNV ENSG00000178386:ENST00000591850:exon3:c.G462A:p.A154A,ENSG00000178386:ENST00000434772:exon5:c.G570A:p.A190A,ENSG00000267022:ENST00000591793:exon7:c.G900A:p.A300A NA NA 19q13.31 NA Name=SETDB1 NA NA rs4375771 0.77 0.77 0.781 0.773962 0.8917 0.5655 0.7262 0.82 0.8395 0.89 0.55 0.79 0.83 0.817 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 1.897867 1.897867 NA 0.868837 0.831593 NA 0.87 NA 4.0891296 1251 1 109486196 109486196 A G exonic CLCC1 NA synonymous SNV CLCC1:NM_001048210:exon6:c.T603C:p.T201T,CLCC1:NM_015127:exon6:c.T453C:p.T151T exonic ENSG00000121940 NA synonymous SNV ENSG00000121940:ENST00000369970:exon5:c.T453C:p.T151T,ENSG00000121940:ENST00000356970:exon6:c.T603C:p.T201T,ENSG00000121940:ENST00000369971:exon6:c.T603C:p.T201T,ENSG00000121940:ENST00000415331:exon6:c.T453C:p.T151T,ENSG00000121940:ENST00000369976:exon7:c.T603C:p.T201T NA NA 1p13.3 NA NA NA NA rs338466 0.54 0.54 0.566 0.538339 0.5219 0.3958 0.5101 0.7579 0.4254 0.52 0.41 0.51 0.75 0.5287 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 0.523603 NA NA 0.527674 0.725828 NA 0.652 NA 4.0883926 1251 4 186381165 186381165 G A exonic CCDC110 NA synonymous SNV CCDC110:NM_001145411:exon5:c.C465T:p.D155D,CCDC110:NM_152775:exon6:c.C576T:p.D192D exonic ENSG00000168491 NA synonymous SNV ENSG00000168491:ENST00000393540:exon5:c.C465T:p.D155D,ENSG00000168491:ENST00000307588:exon6:c.C576T:p.D192D,ENSG00000168491:ENST00000510617:exon6:c.C576T:p.D192D,ENSG00000168491:ENST00000506876:exon7:c.C636T:p.D212D NA NA 4q35.1 NA NA NA NA rs7699724 0.39 0.39 0.396 0.385583 0.5378 0.2827 0.3631 0.2837 0.4888 0.53 0.28 0.41 0.31 0.4765 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.415273 NA NA 0.564231 0.331667 NA 0.449 NA 4.0881356 1251 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 1251 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 1251 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 1251 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 1251 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 1251 13 25052261 25052261 C T exonic PARP4 NA synonymous SNV PARP4:NM_006437:exon13:c.G1602A:p.S534S exonic ENSG00000102699 NA synonymous SNV ENSG00000102699:ENST00000381989:exon13:c.G1602A:p.S534S NA NA 13q12.12 NA NA NA NA rs4770696 0.53 0.53 0.506 0.544529 0.5 0.5992 0.5677 0.4289 0.6738 0.49 0.65 0.58 0.43 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 -0.209976 NA NA 0.528953 0.43123 NA 0.536 NA 4.0873136 1251 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=FOXA2_(SC-6554),FOXA1_(SC-101058),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 1251 2 48756682 48756682 C G upstream STON1,STON1-GTF2A1L NA NA NA upstream ENSG00000068781,ENSG00000243244 NA NA NA NA NA 2p16.3 NA NA Name=14 NA rs34461314 0.31 0.31 0.274 0.261581 0.169 0.751 0.1744 0.0688 0.1748 0.17 0.77 0.19 0.07 0.2439 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 0.228997 NA NA 0.16783 0.095982 NA 0.167 NA 4.0859366 1251 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 1251 21 42717662 42717662 T C exonic FAM3B NA synonymous SNV FAM3B:NM_206964:exon4:c.T252C:p.G84G,FAM3B:NM_058186:exon5:c.T396C:p.G132G exonic ENSG00000183844 NA synonymous SNV ENSG00000183844:ENST00000398646:exon4:c.T465C:p.G155G,ENSG00000183844:ENST00000398647:exon4:c.T252C:p.G84G,ENSG00000183844:ENST00000357985:exon5:c.T396C:p.G132G,ENSG00000183844:ENST00000398652:exon6:c.T513C:p.G171G Score=381;Name=lod=47 NA 21q22.3 NA NA NA NA rs417708 0.9 0.9 0.898 0.911542 0.8559 0.9177 0.8271 0.9849 0.9233 0.85 0.92 0.83 0.98 0.8747 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 -1.556872 NA NA 0.850233 0.960054 NA 0.87 NA 4.0858336 1251 19 10106871 10106871 G A intronic COL5A3 NA NA NA ncRNA_exonic ENSG00000267650 NA NA NA NA NA 19p13.2 NA NA NA NA rs10415783 0.07 0.07 0.08 0.0569089 0.0865 0.0337 0.0692 0.0764 0.0153 0.08 0.04 0.08 0.08 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 -0.189836 NA NA 0.088256 0.088062 NA 0.123 NA 4.0853773 1251 4 115577997 115577997 C G ncRNA_exonic MIR577 NA NA NA ncRNA_exonic ENSG00000207931 NA NA NA NA NA 4q26 NA NA NA NA rs34115976 0.12 0.12 0.102 0.104034 0.2028 0.0575 0.0951 0.031 0.1554 0.2 0.07 0.11 0.04 0.1948 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.701978 NA NA 0.183696 0.042146 NA 0.058 NA 4.0853706 1251 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 1251 6 31118019 31118019 T C intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA Name=Nevirapine-induced rash 6p21.33 NA NA NA NA rs1265112 0.24 0.24 0.237 0.220248 0.3141 0.0724 0.2752 0.2216 0.2352 0.33 0.09 0.29 0.24 0.2781 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.060928 2.060928 NA 0.322558 0.242397 NA 0.254 NA 4.085242 1251 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 1251 12 117465857 117465857 T C exonic FBXW8 NA synonymous SNV FBXW8:NM_012174:exon11:c.T1479C:p.Y493Y,FBXW8:NM_153348:exon11:c.T1677C:p.Y559Y exonic ENSG00000174989 NA synonymous SNV ENSG00000174989:ENST00000309909:exon11:c.T1677C:p.Y559Y,ENSG00000174989:ENST00000455858:exon11:c.T1479C:p.Y493Y Score=468;Name=lod=106 NA 12q24.22 NA NA NA NA rs4529958 0.93 0.93 0.933 0.945687 0.8519 0.997 0.9063 0.9917 0.955 0.85 1 0.88 0.99 0.888 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124784 NA NA 0.841744 0.969814 NA 0.964 NA 4.0850226 1252 20 62364885 62364885 T A intronic ZGPAT NA NA NA intronic ENSG00000197114 NA NA NA NA NA 20q13.33 NA Name=ZNF274 NA NA rs6011068 0.96 0.96 0.959 0.972843 0.9155 0.995 0.9582 0.9924 0.9928 0.92 0.99 0.94 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 -0.327121 NA NA NA NA NA 0.978 NA 4.0845 1252 17 27835138 27835138 C T exonic TAOK1 NA synonymous SNV TAOK1:NM_020791:exon14:c.C1563T:p.A521A,TAOK1:NM_025142:exon14:c.C1563T:p.A521A exonic ENSG00000160551 NA synonymous SNV ENSG00000160551:ENST00000261716:exon14:c.C1563T:p.A521A,ENSG00000160551:ENST00000536202:exon14:c.C1563T:p.A521A Score=753;Name=lod=1533 NA 17q11.2 NA NA NA NA rs508706 0.84 0.84 0.838 0.829872 0.8777 0.7768 0.8674 0.8699 0.7546 0.87 0.75 0.87 0.85 0.8385 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 1.10933 NA NA 0.866279 0.88039 NA 0.732 NA 4.0841876 1252 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 1252 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 1252 12 93100366 93100366 G A UTR5 C12orf74 NM_001037671:c.-42G>A,NM_001178097:c.-42G>A NA NA UTR5 ENSG00000214215 ENST00000397833:c.-42G>A,ENST00000544406:c.-42G>A NA NA NA NA 12q22 NA NA NA NA rs17020629 0.04 0.04 0.042 0.0589058 0.0895 0.0119 0.0605 0.0136 0.136 0.08 0.01 0.06 0.01 0.0735 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 0.314399 NA NA 0.086841 0.028302 NA 0.145 NA 4.0834924 1252 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 1252 20 50287736 50287736 C T exonic ATP9A NA synonymous SNV ATP9A:NM_006045:exon12:c.G1098A:p.S366S exonic ENSG00000054793 NA synonymous SNV ENSG00000054793:ENST00000311637:exon7:c.G690A:p.S230S,ENSG00000054793:ENST00000402822:exon7:c.G735A:p.S245S,ENSG00000054793:ENST00000338821:exon12:c.G1098A:p.S366S NA NA 20q13.2 NA NA NA NA rs2255341 0.55 0.55 0.53 0.532947 0.5318 0.7937 0.5173 0.292 0.6022 0.53 0.8 0.52 0.3 0.5286 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 -0.180554 NA NA 0.523605 0.352247 NA 0.638 NA 4.0826616 1252 17 7489417 7489417 C T intronic MPDU1 NA NA NA UTR3 ENSG00000129255 ENST00000580708:c.*17C>T NA NA NA NA 17p13.1 NA NA NA NA rs74336587 0.02 0.02 0.011 0.0139776 0.0318 NA 0.0317 0.0008 0.0153 0.03 NA 0.03 0.0041 0.0242 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 0.303303 NA NA 0.02814 0.007717 NA 0.007 NA 4.0825267 1252 8 95158382 95158382 C T exonic CDH17 NA synonymous SNV CDH17:NM_001144663:exon15:c.G1941A:p.L647L,CDH17:NM_004063:exon15:c.G1941A:p.L647L exonic ENSG00000079112 NA synonymous SNV ENSG00000079112:ENST00000441892:exon11:c.G1299A:p.L433L,ENSG00000079112:ENST00000027335:exon15:c.G1941A:p.L647L,ENSG00000079112:ENST00000450165:exon15:c.G1941A:p.L647L NA NA 8q22.1 NA NA NA NA rs1131830 0.47 0.47 0.487 0.43151 0.5457 0.5327 0.3761 0.2678 0.4703 0.56 0.53 0.38 0.35 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 0.049743 NA NA 0.535349 0.299365 NA 0.326 NA 4.0823176 1252 10 5995052 5995052 C T UTR3 IL15RA NM_002189:c.*6G>A,NM_001256765:c.*6G>A,NM_001243539:c.*6G>A,NM_172200:c.*6G>A NA NA UTR3 ENSG00000134470 ENST00000379977:c.*6G>A,ENST00000397248:c.*6G>A,ENST00000397251:c.*6G>A,ENST00000525219:c.*6G>A,ENST00000528354:c.*6G>A,ENST00000447291:c.*171G>A,ENST00000532039:c.*6G>A,ENST00000397250:c.*6G>A NA NA NA NA 10p15.1 NA NA NA NA rs2229135 0.1 0.1 0.106 0.0874601 0.0825 0.0546 0.1441 0.112 0.0532 0.08 0.05 0.14 0.15 0.0862 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172569 NA NA 0.082442 0.112574 NA 0.109 NA 4.0821914 1252 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 1252 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 1252 1 202276494 202276494 C T exonic LGR6 NA synonymous SNV LGR6:NM_001017404:exon12:c.C828T:p.P276P,LGR6:NM_001017403:exon14:c.C1245T:p.P415P,LGR6:NM_021636:exon14:c.C1089T:p.P363P exonic ENSG00000133067 NA synonymous SNV ENSG00000133067:ENST00000439764:exon12:c.C828T:p.P276P,ENSG00000133067:ENST00000255432:exon14:c.C1089T:p.P363P,ENSG00000133067:ENST00000367278:exon14:c.C1245T:p.P415P NA NA 1q32.1 NA NA NA NA rs896551 0.54 0.54 0.507 0.533946 0.5447 0.7173 0.6427 0.2738 0.6084 0.56 0.7 0.6 0.28 0.5399 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 1.244316 1.244316 NA 0.501395 0.314344 NA 0.529 NA 4.0806716 1252 10 91143529 91143529 T A exonic IFIT1B NA synonymous SNV IFIT1B:NM_001010987:exon2:c.T459A:p.G153G exonic ENSG00000204010 NA synonymous SNV ENSG00000204010:ENST00000371809:exon2:c.T459A:p.G153G NA NA 10q23.31 NA NA NA NA rs304494 0.7 0.7 0.706 0.711661 0.5258 0.873 0.5144 0.9493 0.5552 0.53 0.86 0.5 0.93 0.5712 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 -0.215657 NA NA 0.489535 0.872901 NA 0.601 NA 4.0801316 1252 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 1252 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 1252 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 1252 17 47076551 47076551 G T intronic IGF2BP1 NA NA NA intronic ENSG00000159217 NA NA NA NA NA 17q21.32 NA Name=NRSF,Egr-1,ZBTB7A_(SC-34508),CTCF,ETS1,TAF1 Name=45 NA rs2411760 0.74 0.74 0.874 NA NA NA NA NA NA 0.8 0.73 0.83 0.59 0.9496 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 0.006622 NA NA 0.970778 0.845835 NA 0.913 NA 4.079622 1252 16 4934549 4934549 G A exonic PPL NA synonymous SNV PPL:NM_002705:exon22:c.C4107T:p.S1369S exonic ENSG00000118898 NA synonymous SNV ENSG00000118898:ENST00000592772:exon10:c.C2370T:p.S790S,ENSG00000118898:ENST00000345988:exon22:c.C4107T:p.S1369S,ENSG00000118898:ENST00000590782:exon22:c.C4101T:p.S1367S NA NA 16p13.3 NA NA NA NA rs1049208 0.45 0.45 0.467 0.40635 0.5298 0.6339 0.4726 0.0598 0.4663 0.54 0.64 0.46 0.07 0.5048 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.889001 NA NA 0.552791 0.130633 NA 0.464 NA 4.0792756 1252 10 70502288 70502288 G A exonic CCAR1 NA synonymous SNV CCAR1:NM_018237:exon6:c.G480A:p.T160T exonic ENSG00000060339 NA synonymous SNV ENSG00000060339:ENST00000543225:exon4:c.G402A:p.T134T,ENSG00000060339:ENST00000535016:exon5:c.G435A:p.T145T,ENSG00000060339:ENST00000539539:exon5:c.G435A:p.T145T,ENSG00000060339:ENST00000543719:exon5:c.G435A:p.T145T,ENSG00000060339:ENST00000265872:exon6:c.G480A:p.T160T,ENSG00000060339:ENST00000538031:exon6:c.G480A:p.T160T,ENSG00000060339:ENST00000540210:exon6:c.G480A:p.T160T,ENSG00000060339:ENST00000541012:exon6:c.G480A:p.T160T NA NA 10q21.3 NA NA Name=2 NA rs1300253 0.86 0.86 0.843 0.861422 0.8618 0.7401 0.9222 0.9297 0.8507 0.87 0.73 0.93 0.93 0.866 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 1.041018 NA NA 0.859651 0.923059 NA 0.826 NA 4.0792156 1252 19 15302844 15302844 T C exonic NOTCH3 NA synonymous SNV NOTCH3:NM_000435:exon4:c.A606G:p.A202A exonic ENSG00000074181 NA synonymous SNV ENSG00000074181:ENST00000263388:exon4:c.A606G:p.A202A,ENSG00000074181:ENST00000601011:exon4:c.A603G:p.A201A NA NA 19p13.12 Score=815;Name=V$HNF4_01 NA NA NA rs1043994 0.86 0.86 0.849 0.855831 0.8519 0.871 0.7435 0.9191 0.8384 0.84 0.87 0.77 0.92 0.8581 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 -1.08156 NA NA 0.877558 0.912165 NA 0.696 NA 4.0791086 1252 11 64108539 64108539 C T intronic CCDC88B NA NA NA intronic ENSG00000168071 NA NA NA NA NA 11q13.1 NA Name=CTCF_(SC-5916),HMGN3,CTCF_(C-20),ZEB1_(SC-25388),CTCF,SP1 NA NA rs66493355 0.2 0.2 0.188 0.218251 0.3052 0.0863 0.1671 0.1944 0.3333 0.3 0.09 0.2 0.18 0.2822 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.966955 NA NA 0.333605 0.218991 ID=COSN163978;OCCURENCE=1(NS) 0.304 NA 4.078995 1252 9 136131347 136131347 G A exonic ABO NA unknown UNKNOWN ncRNA_exonic ENSG00000175164 NA NA NA NA NA 9q34.2 NA NA NA NA rs8176745 0.27 0.27 0.235 0.269569 0.2207 0.2897 0.4308 0.2436 0.2198 0.22 0.28 0.38 0.25 0.2962 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.755316 NA NA 0.237667 0.224641 NA 0.181 NA 4.0787663 1252 15 70991925 70991925 G C exonic UACA NA synonymous SNV UACA:NM_001008224:exon2:c.C114G:p.T38T,UACA:NM_018003:exon2:c.C153G:p.T51T exonic ENSG00000137831 NA synonymous SNV ENSG00000137831:ENST00000322954:exon2:c.C153G:p.T51T,ENSG00000137831:ENST00000379983:exon2:c.C114G:p.T38T,ENSG00000137831:ENST00000539319:exon2:c.C153G:p.T51T,ENSG00000137831:ENST00000558758:exon2:c.C114G:p.T38T,ENSG00000137831:ENST00000560167:exon2:c.C138G:p.T46T,ENSG00000137831:ENST00000560441:exon2:c.C114G:p.T38T Score=507;Name=lod=154 NA 15q23 NA NA NA NA rs4776525 0.74 0.74 0.721 0.730431 0.8748 0.5804 0.8905 0.5983 0.8016 0.88 0.55 0.86 0.64 0.8288 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 1.145782 NA NA 0.884338 0.668713 NA 0.775 NA 4.0787286 1252 5 13701525 13701525 T C exonic DNAH5 NA synonymous SNV DNAH5:NM_001369:exon77:c.A13359G:p.T4453T exonic ENSG00000039139 NA synonymous SNV ENSG00000039139:ENST00000265104:exon77:c.A13359G:p.T4453T NA NA 5p15.2 NA NA NA NA rs3734111 0.46 0.46 0.462 0.447684 0.5398 0.4435 0.4928 0.3449 0.4642 0.54 0.4 0.52 0.37 0.5013 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453781 NA NA 0.547209 0.366546 NA 0.428 NA 4.0783576 1252 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 1252 19 10116375 10116375 G T exonic COL5A3 NA synonymous SNV COL5A3:NM_015719:exon4:c.C453A:p.A151A exonic ENSG00000080573 NA synonymous SNV ENSG00000080573:ENST00000264828:exon4:c.C453A:p.A151A NA NA 19p13.2 NA NA NA NA rs2303099 0.46 0.46 0.456 0.508586 0.5149 0.2946 0.5303 0.4924 0.729 0.51 0.29 0.55 0.51 0.5379 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635362 NA NA 0.536163 0.519065 NA 0.587 NA 4.0777036 1252 20 42089140 42089140 T A intronic SRSF6 NA NA NA intronic ENSG00000124193 NA NA NA NA NA 20q13.11 NA NA Name=23 NA rs34934568 0.19 0.19 0.193 0.147165 0.334 0.12 0.1787 0.0166 0.137 0.34 0.14 0.2 0.02 0.2516 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.126667 NA NA 0.33686 0.072628 NA 0.159 NA 4.07754 1252 10 30986296 30986296 C T intergenic LYZL2,ZNF438 dist=67649;dist=147269 NA NA ncRNA_intronic ENSG00000234814 NA NA NA NA NA 10p11.23 NA NA Name=2 NA rs4749587 0.72 0.72 0.67 0.724641 0.9225 0.6567 0.8487 0.382 0.9663 0.92 0.66 0.85 0.37 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 0.552428 NA NA NA NA NA 0.703 NA 4.0775 1252 11 49329552 49329552 G A intergenic FOLH1,LOC440040 dist=99330;dist=250528 NA NA ncRNA_exonic ENSG00000255532 NA NA NA Score=590;Name=lod=333 NA 11p11.12 NA NA NA NA rs1164670 0.89 0.89 0.9 0.872005 0.9225 0.7113 0.9222 0.9962 0.7822 0.91 0.74 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 0.582783 NA NA NA NA NA 0.884 NA 4.0775 1252 8 25317824 25317824 A T intronic CDCA2 NA NA NA UTR5 ENSG00000184661 ENST00000380665:c.-60A>T NA NA NA NA 8p21.2 NA NA Name=8 NA rs1506863 0.4 0.4 0.388 0.413339 0.3539 0.3562 0.3588 0.5303 0.4141 0.35 0.37 0.38 0.54 0.3791 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.295299 1.295299 NA 0.356512 0.509079 NA 0.297 NA 4.0771547 1252 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 1252 5 96245439 96245439 C T exonic ERAP2 NA synonymous SNV ERAP2:NM_001130140:exon15:c.C2325T:p.S775S,ERAP2:NM_022350:exon15:c.C2325T:p.S775S exonic ENSG00000164308 NA synonymous SNV ENSG00000164308:ENST00000379904:exon14:c.C2190T:p.S730S,ENSG00000164308:ENST00000437043:exon15:c.C2325T:p.S775S NA NA 5q15 NA NA NA NA rs1056893 0.55 0.55 0.538 0.552516 0.5199 0.5278 0.5807 0.6006 0.5266 0.52 0.58 0.59 0.55 0.5484 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847541 NA NA 0.521977 0.579891 NA 0.659 NA 4.0763896 1252 1 17402159 17402159 G A intronic PADI2 NA NA NA intronic ENSG00000117115 NA NA NA NA NA 1p36.13 NA Name=USF-1,Rad21,CTCF,CTCF_(C-20),CTCF_(SC-5916),PU.1,GABP,ELF1_(SC-631),CTCFL_(SC-98982),SMC3_(ab9263) Name=36 NA rs3818033 0.54 0.54 0.562 0.525759 0.6561 0.4018 0.5821 0.4826 0.5378 0.66 0.44 0.59 0.44 0.6144 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 -0.571583 NA NA 0.653256 0.541307 NA 0.58 NA 4.076244 1252 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 1252 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 1252 19 34959979 34959979 A G exonic UBA2 NA synonymous SNV UBA2:NM_005499:exon17:c.A1776G:p.S592S exonic ENSG00000126261 NA synonymous SNV ENSG00000126261:ENST00000592791:exon5:c.A354G:p.S118S,ENSG00000126261:ENST00000246548:exon17:c.A1776G:p.S592S,ENSG00000126261:ENST00000439527:exon17:c.A1488G:p.S496S Score=565;Name=lod=263 NA 19q13.11 NA NA NA NA rs7259160 0.84 0.84 0.832 0.79393 0.8807 0.8383 0.8617 0.7481 0.6728 0.88 0.86 0.85 0.74 0.8333 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 -0.746477 NA NA 0.877209 0.778938 NA 0.768 NA 4.0754576 1252 6 74161503 74161503 A G exonic MB21D1 NA synonymous SNV MB21D1:NM_138441:exon1:c.T402C:p.P134P exonic ENSG00000164430 NA synonymous SNV ENSG00000164430:ENST00000370315:exon1:c.T402C:p.P134P,ENSG00000164430:ENST00000370318:exon1:c.T402C:p.P134P NA NA 6q13 NA Name=Pol2 NA NA rs9446904 0.88 0.88 0.867 0.898363 0.8579 0.9484 0.8674 0.8949 0.9151 0.85 0.95 0.85 0.89 0.8724 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 0.716697 NA NA 0.861089 0.886218 NA 0.848 NA 4.0752776 1252 12 64519806 64519806 T C exonic SRGAP1 NA synonymous SNV SRGAP1:NM_020762:exon19:c.T2274C:p.S758S exonic ENSG00000196935 NA synonymous SNV ENSG00000196935:ENST00000543397:exon18:c.T2085C:p.S695S,ENSG00000196935:ENST00000355086:exon19:c.T2274C:p.S758S,ENSG00000196935:ENST00000357825:exon19:c.T2205C:p.S735S NA NA 12q14.2 NA NA NA NA rs789722 0.6 0.6 0.603 0.588858 0.5398 0.6319 0.4683 0.6936 0.5389 0.54 0.67 0.48 0.69 0.5465 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 0.533253 NA NA 0.505116 0.693146 NA 0.464 NA 4.0752506 1253 13 97639414 97639414 C T exonic OXGR1 NA synonymous SNV OXGR1:NM_080818:exon4:c.G600A:p.L200L exonic ENSG00000165621 NA synonymous SNV ENSG00000165621:ENST00000298440:exon4:c.G600A:p.L200L,ENSG00000165621:ENST00000543457:exon4:c.G600A:p.L200L NA NA 13q32.1 NA NA NA NA rs9284174 0.5 0.5 0.499 0.522764 0.5358 0.4544 0.3487 0.587 0.6166 0.54 0.47 0.38 0.58 0.5219 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.667875 NA NA 0.534302 0.569451 NA 0.514 NA 4.0746646 1253 12 55042118 55042118 A G UTR5 DCD NM_053283:c.-31T>C NA NA UTR5 ENSG00000161634 ENST00000293371:c.-31T>C,ENST00000456047:c.-31T>C,ENST00000546807:c.-31T>C NA NA NA NA 12q13.2 NA NA NA NA rs78394705 0.06 0.06 0.047 0.0561102 0.0825 0.0119 0.0418 0.059 0.0808 0.08 0.02 0.06 0.05 0.0792 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 1.507347 1.507347 NA 0.096977 0.037676 NA 0.043 NA 4.0746564 1253 9 131403096 131403096 A G exonic WDR34 NA synonymous SNV WDR34:NM_052844:exon2:c.T309C:p.Y103Y exonic ENSG00000119333 NA synonymous SNV ENSG00000119333:ENST00000372715:exon2:c.T309C:p.Y103Y,ENSG00000119333:ENST00000419989:exon2:c.T264C:p.Y88Y,ENSG00000119333:ENST00000451652:exon2:c.T282C:p.Y94Y NA NA 9q34.11 Score=921;Name=V$HOXA3_01 NA NA NA rs2298045 0.76 0.76 0.758 0.740016 0.8708 0.6062 0.8199 0.6884 0.7566 0.87 0.59 0.85 0.71 0.8268 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 0.110942 NA NA 0.894419 0.720381 NA 0.659 NA 4.0746476 1253 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 1253 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 1253 1 17402135 17402135 T C intronic PADI2 NA NA NA intronic ENSG00000117115 NA NA NA NA NA 1p36.13 NA Name=CTCF,USF-1,Rad21,ELF1_(SC-631),SMC3_(ab9263),CTCFL_(SC-98982),CTCF_(C-20),GABP,PU.1,CTCF_(SC-5916) Name=36 NA rs3818034 0.54 0.54 0.538 0.526158 0.6561 0.4028 0.5821 0.4834 0.5378 0.66 0.44 0.59 0.44 0.6161 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 0.664955 NA NA 0.653837 0.54108 NA 0.623 NA 4.073963 1253 21 44841036 44841036 A G intronic SIK1 NA NA NA intronic ENSG00000142178 NA NA NA NA NA 21q22.3 NA NA Name=6 NA rs2006191 0.33 0.33 0.307 0.361222 0.3052 0.2748 0.2133 0.5469 0.362 0.3 0.26 0.24 0.52 0.3275 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.247534 1.247534 NA 0.293372 0.492283 NA 0.312 NA 4.073928 1253 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 1253 8 25258442 25258442 C T intronic DOCK5 NA NA NA intronic ENSG00000147459 NA NA NA Score=432;Name=lod=76 NA 8p21.2 NA NA NA NA rs3750194 0.28 0.28 0.258 0.267572 0.3131 0.3036 0.2622 0.2216 0.2495 0.3 0.3 0.28 0.22 0.2985 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148053 NA NA 0.314651 0.245801 NA 0.21 NA 4.073749 1253 11 124015994 124015994 C T exonic VWA5A NA synonymous SNV VWA5A:NM_014622:exon17:c.C2205T:p.H735H,VWA5A:NM_001130142:exon18:c.C2205T:p.H735H exonic ENSG00000110002 NA synonymous SNV ENSG00000110002:ENST00000392748:exon17:c.C2205T:p.H735H,ENSG00000110002:ENST00000456829:exon18:c.C2205T:p.H735H NA NA 11q24.2 NA NA NA NA rs1056615 0.64 0.64 0.667 0.604633 0.5229 0.7093 0.5403 0.7821 0.3865 0.51 0.72 0.56 0.79 0.5467 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 -0.12853 NA NA 0.523378 0.708542 NA 0.601 NA 4.0736886 1253 11 102713465 102713465 A G exonic MMP3 NA synonymous SNV MMP3:NM_002422:exon2:c.T288C:p.D96D exonic ENSG00000149968 NA synonymous SNV ENSG00000149968:ENST00000299855:exon2:c.T288C:p.D96D NA NA 11q22.2 NA NA NA NA rs602128 0.6 0.6 0.549 0.61861 0.5278 0.6667 0.6643 0.5499 0.7229 0.54 0.67 0.62 0.57 0.5652 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 -0.907583 NA NA 0.500233 0.539038 ID=COSM428295;OCCURENCE=1(breast) 0.5 NA 4.0734336 1253 5 56161787 56161787 G A exonic MAP3K1 NA synonymous SNV MAP3K1:NM_005921:exon6:c.G1284A:p.T428T exonic ENSG00000095015 NA synonymous SNV ENSG00000095015:ENST00000399503:exon6:c.G1284A:p.T428T Score=718;Name=lod=1100 NA 5q11.2 NA NA NA NA rs832575 0.79 0.79 0.776 0.804313 0.8678 0.7183 0.7219 0.7663 0.9376 0.87 0.7 0.77 0.78 0.8479 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 0.711171 NA NA 0.878019 0.798015 NA 0.812 NA 4.0729476 1253 15 78191543 78191543 C T intergenic LOC253044,LOC645752 dist=249962;dist=15016 NA NA ncRNA_exonic ENSG00000260139 NA NA NA Score=387;Name=lod=50 NA 15q24.3 NA NA NA NA rs8041172 0.77 0.77 0.764 0.719249 0.9274 0.8621 0.7219 0.4637 0.7014 0.92 0.84 0.77 0.46 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 -0.476469 NA NA NA NA NA 0.754 NA 4.0726 1253 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 1253 8 80678865 80678865 C A intronic HEY1 NA NA NA intronic ENSG00000164683 NA NA NA NA NA 8q21.13 NA NA Name=18 NA rs960978 0.28 0.28 0.265 0.28734 0.2813 0.2004 0.3761 0.354 0.2301 0.29 0.2 0.38 0.28 0.3129 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.100608 NA NA 0.333953 0.334544 NA 0.275 NA 4.071847 1253 2 227872995 227872995 T C exonic COL4A4 NA synonymous SNV COL4A4:NM_000092:exon47:c.A4548G:p.V1516V exonic ENSG00000081052 NA synonymous SNV ENSG00000081052:ENST00000329662:exon46:c.A4539G:p.V1513V,ENSG00000081052:ENST00000396625:exon47:c.A4548G:p.V1516V NA NA 2q36.3 NA NA NA NA rs2228555 0.6 0.6 0.607 0.640575 0.5199 0.5982 0.5432 0.7761 0.6943 0.53 0.6 0.55 0.74 0.5602 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.293636 NA NA 0.514943 0.72723 NA 0.638 NA 4.0716236 1253 2 178936373 178936373 T G exonic PDE11A NA synonymous SNV PDE11A:NM_016953:exon1:c.A792C:p.T264T exonic ENSG00000128655 NA synonymous SNV ENSG00000128655:ENST00000286063:exon1:c.A792C:p.T264T Score=680;Name=lod=770 NA 2q31.2 NA NA NA NA rs1435573 0.89 0.89 0.874 0.88738 0.8728 0.999 0.9078 0.7874 0.908 0.87 1 0.9 0.78 0.874 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.644269 NA NA 0.848256 0.805719 NA 0.71 NA 4.0716106 1253 10 104231054 104231054 A G exonic TMEM180 NA synonymous SNV TMEM180:NM_024789:exon6:c.A729G:p.V243V exonic ENSG00000138111 NA synonymous SNV ENSG00000138111:ENST00000369931:exon5:c.A276G:p.V92V,ENSG00000138111:ENST00000238936:exon6:c.A729G:p.V243V NA NA 10q24.32 NA NA NA NA rs11191295 0.42 0.42 0.406 0.410144 0.5636 0.3075 0.366 0.3722 0.4407 0.56 0.28 0.41 0.37 0.4784 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.077445 2.077445 NA 0.553372 0.380163 NA 0.457 NA 4.0712946 1253 3 154886278 154886278 T C intronic MME NA NA NA ncRNA_intronic ENSG00000240666 NA NA NA NA NA 3q25.2 NA NA NA NA rs3736187 0.14 0.14 0.155 0.153554 0.0736 0.1716 0.0807 0.2352 0.1585 0.08 0.18 0.07 0.25 0.116 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265627 NA NA 0.072907 0.198593 NA 0.123 NA 4.0708263 1253 9 136291063 136291063 C T exonic ADAMTS13 NA synonymous SNV ADAMTS13:NM_139025:exon5:c.C420T:p.A140A,ADAMTS13:NM_139026:exon5:c.C420T:p.A140A,ADAMTS13:NM_139027:exon5:c.C420T:p.A140A exonic ENSG00000160323 NA synonymous SNV ENSG00000160323:ENST00000355699:exon5:c.C420T:p.A140A,ENSG00000160323:ENST00000356589:exon5:c.C420T:p.A140A,ENSG00000160323:ENST00000371911:exon5:c.C420T:p.A140A,ENSG00000160323:ENST00000371916:exon5:c.C420T:p.A140A,ENSG00000160323:ENST00000371929:exon5:c.C420T:p.A140A,ENSG00000160323:ENST00000474918:exon5:c.C420T:p.A140A,ENSG00000160323:ENST00000495234:exon5:c.C420T:p.A140A NA NA 9q34.2 NA NA NA NA rs3118667 0.6 0.6 0.617 0.581869 0.5119 0.8333 0.5346 0.4871 0.5562 0.51 0.83 0.56 0.51 0.5504 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 0.282093 NA NA 0.533605 0.482978 ID=COSM1460807;OCCURENCE=1(large_intestine) 0.514 NA 4.0707616 1253 5 70945075 70945075 A G exonic MCCC2 NA synonymous SNV MCCC2:NM_022132:exon14:c.A1368G:p.A456A exonic ENSG00000131844 NA synonymous SNV ENSG00000131844:ENST00000509539:exon8:c.A684G:p.A228A,ENSG00000131844:ENST00000323375:exon13:c.A1254G:p.A418A,ENSG00000131844:ENST00000340941:exon14:c.A1368G:p.A456A NA NA 5q13.2 NA NA NA NA rs10064079 0.85 0.85 0.836 0.851438 0.8499 0.9802 0.8746 0.6755 0.9417 0.85 0.98 0.83 0.71 0.8781 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 0.297418 NA NA 0.867907 0.706537 NA 0.725 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082093.1;CLNDSDB=.;CLNDSDBID=. 4.0707596 1253 12 123333065 123333065 C T exonic HIP1R NA synonymous SNV HIP1R:NM_003959:exon3:c.C210T:p.Y70Y exonic ENSG00000130787 NA synonymous SNV ENSG00000130787:ENST00000253083:exon3:c.C210T:p.Y70Y Score=604;Name=lod=379 NA 12q24.31 NA NA NA NA rs2135014 0.81 0.81 0.803 0.780551 0.8648 0.754 0.9222 0.7284 0.6912 0.87 0.74 0.91 0.74 0.8376 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 -0.227558 NA NA 0.893605 0.765547 ID=COSM430595;OCCURENCE=1(breast) 0.848 NA 4.0706616 1253 1 16388646 16388646 T C exonic FAM131C NA synonymous SNV FAM131C:NM_182623:exon4:c.A216G:p.R72R exonic ENSG00000185519 NA synonymous SNV ENSG00000185519:ENST00000375662:exon4:c.A216G:p.R72R Score=566;Name=lod=266 NA 1p36.13 NA NA NA NA rs2863456 0.83 0.83 0.829 0.816693 0.8738 0.8304 0.8588 0.7163 0.8497 0.87 0.85 0.85 0.71 0.8516 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 0.668459 NA NA 0.871172 0.720947 NA 0.5 NA 4.0700946 1253 11 104971210 104971210 C T intronic CARD17 NA NA NA intronic ENSG00000137752,ENSG00000204397,ENSG00000255221 NA NA NA NA NA 11q22.3 NA Name=c-Fos Name=34 NA rs1792771 0.55 0.55 0.543 0.521366 0.675 0.3948 0.5865 0.5756 0.3742 0.64 0.41 0.58 0.54 0.6056 0.65 NA NA 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 0.649953 0.569255 NA 0.435 NA 4.069447 1253 11 116734545 116734545 G A intronic SIK3 NA NA NA intronic ENSG00000160584 NA NA NA Score=625;Name=lod=463 NA 11q23.3 NA NA NA NA rs11216164 0.18 0.18 0.158 0.127196 0.3569 0.0308 0.2262 0.0189 0.0665 0.36 0.03 0.24 0.02 0.2399 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.095646 4.095646 NA 0.334032 0.071558 NA 0.275 NA 4.069168 1253 13 50057633 50057633 A G exonic SETDB2 NA synonymous SNV SETDB2:NM_001160308:exon9:c.A1416G:p.Q472Q,SETDB2:NM_031915:exon11:c.A1452G:p.Q484Q exonic ENSG00000136169 NA synonymous SNV ENSG00000136169:ENST00000258672:exon10:c.A1416G:p.Q472Q,ENSG00000136169:ENST00000354234:exon10:c.A1416G:p.Q472Q,ENSG00000136169:ENST00000317257:exon11:c.A1452G:p.Q484Q NA NA 13q14.2 NA NA NA NA rs11619265 0.51 0.51 0.5 0.471446 0.5239 0.4762 0.5 0.4992 0.3548 0.53 0.5 0.49 0.52 0.5293 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.762823 NA NA 0.544424 0.520938 NA 0.406 NA 4.0690426 1253 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 1253 8 95158146 95158146 G C intronic CDH17 NA NA NA intronic ENSG00000079112 NA NA NA Score=452;Name=lod=92 NA 8q22.1 NA NA NA NA rs13263145 0.17 0.17 0.125 0.114217 0.3449 0.003 0.1816 0.0113 0.0828 0.35 0.01 0.22 0.02 0.2464 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.318997 1.318997 NA 0.34 0.070586 NA 0.101 NA 4.0687 1253 4 15964501 15964501 G A exonic FGFBP2 NA synonymous SNV FGFBP2:NM_031950:exon1:c.C252T:p.F84F exonic ENSG00000137441 NA synonymous SNV ENSG00000137441:ENST00000259989:exon1:c.C252T:p.F84F NA NA 4p15.32 NA NA NA NA rs2286459 0.45 0.45 0.416 0.508786 0.5179 0.4365 0.6499 0.3116 0.7403 0.5 0.39 0.63 0.32 0.5513 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.318599 NA NA 0.52907 0.376305 NA 0.529 NA 4.0683966 1253 11 134188542 134188542 T C exonic GLB1L3 NA synonymous SNV GLB1L3:NM_001080407:exon19:c.T1797C:p.F599F exonic ENSG00000166105 NA synonymous SNV ENSG00000166105:ENST00000431683:exon19:c.T1797C:p.F599F NA NA 11q25 NA NA NA NA rs481252 0.42 0.42 0.422 0.392772 0.5328 0.2877 0.3718 0.4327 0.318 0.54 0.26 0.37 0.47 0.5047 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102551 NA NA 0.560922 0.463197 NA 0.442 NA 4.0682446 1253 19 4452497 4452497 G A intronic UBXN6 NA NA NA intronic ENSG00000167671 NA NA NA NA NA 19p13.3 NA Name=Pol2 NA NA rs243395 0.4 0.4 0.362 0.403155 0.2803 0.5982 0.4251 0.3404 0.3978 0.28 0.59 0.42 0.34 0.3659 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457694 NA NA 0.28593 0.332274 NA 0.268 NA 4.06787 1253 8 14095199 14095199 T C intronic SGCZ NA NA NA intronic ENSG00000185053 NA NA NA Score=635;Name=lod=508 NA 8p22 NA NA NA NA rs13269000 0.2 0.2 0.181 0.155351 0.327 0.1429 0.2262 0.0151 0.1309 0.32 0.15 0.25 0.03 0.26 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.780711 2.780711 NA 0.345233 0.071947 NA 0.21 NA 4.067767 1253 2 191235901 191235901 A C exonic INPP1 NA synonymous SNV INPP1:NM_002194:exon6:c.A973C:p.R325R,INPP1:NM_001128928:exon7:c.A973C:p.R325R exonic ENSG00000151689 NA synonymous SNV ENSG00000151689:ENST00000322522:exon6:c.A973C:p.R325R,ENSG00000151689:ENST00000392329:exon7:c.A973C:p.R325R,ENSG00000151689:ENST00000541441:exon8:c.A973C:p.R325R Score=546;Name=lod=220 NA 2q32.2 NA NA NA NA rs1882891 0.86 0.86 0.843 0.878195 0.8658 0.9097 0.9222 0.8048 0.9264 0.87 0.88 0.9 0.77 0.8732 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 1.216324 NA NA 0.860349 0.817522 NA 0.862 NA 4.0673176 1253 19 52869312 52869312 T C exonic ZNF610 NA synonymous SNV ZNF610:NM_001161427:exon5:c.T552C:p.T184T,ZNF610:NM_001161425:exon6:c.T681C:p.T227T,ZNF610:NM_001161426:exon6:c.T681C:p.T227T,ZNF610:NM_173530:exon6:c.T681C:p.T227T exonic ENSG00000167554 NA synonymous SNV ENSG00000167554:ENST00000601151:exon5:c.T552C:p.T184T,ENSG00000167554:ENST00000321287:exon6:c.T681C:p.T227T,ENSG00000167554:ENST00000327920:exon6:c.T681C:p.T227T,ENSG00000167554:ENST00000403906:exon6:c.T681C:p.T227T NA NA 19q13.41 NA Name=ZNF274 NA NA rs162120 0.76 0.76 0.769 0.786741 0.8966 0.5268 0.7666 0.8366 0.8885 0.89 0.51 0.8 0.82 0.8302 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 -0.340186 NA NA 0.872907 0.830005 NA 0.848 NA 4.0669596 1253 3 121137976 121137976 C T UTR3 STXBP5L NM_014980:c.*32C>T NA NA UTR3 ENSG00000145087 ENST00000273666:c.*32C>T,ENST00000471454:c.*32C>T NA NA Score=670;Name=lod=705 Name=Aging (facial) 3q13.33 NA NA NA NA rs6782025 0.77 0.77 0.736 0.770567 0.7495 0.877 0.7378 0.6384 0.8845 0.74 0.89 0.73 0.68 0.7703 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 1.246819 1.246819 NA 0.746877 0.668306 NA 0.797 NA 4.0666564 1253 1 980460 980460 G A intronic AGRN NA NA NA intronic ENSG00000188157 NA NA NA NA NA 1p36.33 NA Name=CEBPB NA NA rs3128097 0.91 0.91 0.882 0.911941 0.9334 0.999 0.9323 0.7738 0.9724 0.93 1 0.94 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 0.676884 NA NA NA NA NA 0.812 NA 4.0666 1253 17 45885756 45885756 C T exonic OSBPL7 NA synonymous SNV OSBPL7:NM_145798:exon23:c.G2430A:p.T810T exonic ENSG00000006025 NA synonymous SNV ENSG00000006025:ENST00000007414:exon23:c.G2430A:p.T810T,ENSG00000006025:ENST00000392507:exon23:c.G2430A:p.T810T NA NA 17q21.32 NA NA NA NA rs9911983 0.47 0.47 0.462 0.474042 0.5298 0.1528 0.4352 0.7005 0.4693 0.53 0.14 0.5 0.72 0.5139 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33262 NA NA 0.556395 0.701997 NA 0.63 NA 4.0665716 1253 21 47786817 47786817 C G exonic PCNT NA synonymous SNV PCNT:NM_006031:exon15:c.C2928G:p.L976L exonic ENSG00000160299 NA synonymous SNV ENSG00000160299:ENST00000359568:exon15:c.C2928G:p.L976L Score=329;Name=lod=29 NA 21q22.3 NA NA NA NA rs2839228 0.85 0.85 0.844 0.838858 0.8728 0.8036 0.8156 0.8911 0.7863 0.87 0.79 0.86 0.89 0.8527 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 -0.913388 NA NA 0.874767 0.89537 ID=COSM1414625;OCCURENCE=1(large_intestine) 0.833 NA 4.0663996 1253 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 1253 15 78189653 78189653 G A intergenic LOC253044,LOC645752 dist=248072;dist=16906 NA NA ncRNA_exonic ENSG00000260139 NA NA NA Score=265;Name=lod=16 NA 15q24.3 NA NA NA NA rs4243064 0.87 0.87 0.785 0.929313 0.9344 0.999 0.9625 0.8457 0.9417 0.88 0.97 0.92 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 -1.418341 NA NA NA NA NA NA NA 4.0656 1253 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 1253 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 1254 8 144332082 144332082 T C exonic ZFP41 NA synonymous SNV ZFP41:NM_001271156:exon2:c.T69C:p.S23S,ZFP41:NM_173832:exon2:c.T69C:p.S23S exonic ENSG00000181638,ENSG00000264668 NA synonymous SNV ENSG00000181638:ENST00000330701:exon2:c.T69C:p.S23S,ENSG00000181638:ENST00000520584:exon2:c.T69C:p.S23S,ENSG00000264668:ENST00000522452:exon2:c.T69C:p.S23S NA NA 8q24.3 NA NA NA NA rs11136275 0.6 0.6 0.602 0.616214 0.5159 0.744 0.6585 0.5522 0.6442 0.49 0.76 0.64 0.56 0.567 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 0.235431 NA NA 0.518953 0.539737 NA 0.616 NA 4.0648136 1254 5 135510033 135510033 T A intronic SMAD5 NA NA NA intronic ENSG00000113658 NA NA NA NA NA 5q31.1 NA Name=Znf143_(16618-1-AP),CTCF_(SC-5916),Pol2-4H8,GATA-2,CTCF,CEBPB,SMC3_(ab9263),eGFP-GATA2,YY1_(C-20),Rad21 NA NA rs4146185 0.37 0.37 0.366 0.366813 0.329 0.3829 0.2406 0.584 0.1851 0.3 0.37 0.28 0.53 0.3063 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.708892 NA NA 0.300141 0.498296 NA 0.442 NA 4.064559 1254 20 24944447 24944447 G A UTR3 APMAP NM_020531:c.*2C>T NA NA UTR3 ENSG00000101474 ENST00000217456:c.*2C>T,ENST00000451442:c.*2C>T,ENST00000447138:c.*190C>T NA NA NA NA 20p11.21 NA NA NA NA rs1045772 0.07 0.07 0.052 0.0706869 0.0924 0.003 0.0677 0.0915 0.092 0.1 0.0017 0.06 0.1 0.0788 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 0.055604 NA NA 0.097907 0.092828 NA 0.072 NA 4.0642264 1254 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 1254 10 73115941 73115941 T C exonic SLC29A3 NA synonymous SNV SLC29A3:NM_001174098:exon5:c.T714C:p.T238T,SLC29A3:NM_018344:exon5:c.T714C:p.T238T exonic ENSG00000198246 NA synonymous SNV ENSG00000198246:ENST00000373189:exon5:c.T714C:p.T238T NA NA 10q22.1 NA NA NA NA rs2252997 0.65 0.65 0.813 0.780751 0.8847 0.6657 0.6599 0.8964 0.7219 0.7 0.55 0.65 0.71 0.8294 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 -1.174823 NA NA 0.888953 0.889242 NA 0.007 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118381.2;CLNDSDB=.;CLNDSDBID=. 4.0636136 1254 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 1254 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 1254 19 49838891 49838891 C A intronic CD37 NA NA NA ncRNA_intronic ENSG00000197813 NA NA NA NA NA 19q13.33 NA Name=YY1_(C-20),ZBTB7A_(SC-34508),Egr-1,Pol2,NFKB,TAF1 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 1254 20 61981554 61981554 C A exonic CHRNA4 NA synonymous SNV CHRNA4:NM_000744:exon5:c.G1209T:p.P403P,CHRNA4:NM_001256573:exon5:c.G681T:p.P227P exonic ENSG00000101204 NA synonymous SNV ENSG00000101204:ENST00000370263:exon5:c.G1209T:p.P403P NA NA 20q13.33 NA NA NA NA rs2229959 0.77 0.77 0.736 0.733826 0.8897 0.8988 0.8674 0.3933 0.7689 0.89 0.88 0.85 0.39 0.8354 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 -1.326933 NA NA 0.880602 0.498859 NA 0.71 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079310.3;CLNDSDB=.;CLNDSDBID=. 4.0609646 1254 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 1254 6 38913177 38913177 A G ncRNA_intronic LOC100131047 NA NA NA ncRNA_intronic ENSG00000231150 NA NA NA NA NA 6p21.2 NA NA NA NA rs522327 0.64 0.64 0.634 0.633387 0.6064 0.7212 0.6859 0.5741 0.6135 0.62 0.71 0.66 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 0.555547 NA NA NA NA ID=COSN167763;OCCURENCE=1(large_intestine) 0.63 NA 4.0602666 1254 19 52869534 52869534 G A exonic ZNF610 NA synonymous SNV ZNF610:NM_001161427:exon5:c.G774A:p.S258S,ZNF610:NM_001161425:exon6:c.G903A:p.S301S,ZNF610:NM_001161426:exon6:c.G903A:p.S301S,ZNF610:NM_173530:exon6:c.G903A:p.S301S exonic ENSG00000167554 NA synonymous SNV ENSG00000167554:ENST00000601151:exon5:c.G774A:p.S258S,ENSG00000167554:ENST00000321287:exon6:c.G903A:p.S301S,ENSG00000167554:ENST00000327920:exon6:c.G903A:p.S301S,ENSG00000167554:ENST00000403906:exon6:c.G903A:p.S301S NA NA 19q13.41 NA Name=ZNF274,KAP1,SETDB1 NA NA rs162119 0.79 0.79 0.799 0.802716 0.8966 0.6151 0.7911 0.826 0.8763 0.89 0.6 0.83 0.82 0.8381 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 -0.345488 NA NA 0.872093 0.826373 ID=COSM148719;OCCURENCE=1(stomach) 0.833 NA 4.0598736 1254 10 91178000 91178000 C T exonic IFIT5 NA synonymous SNV IFIT5:NM_012420:exon2:c.C1044T:p.Y348Y exonic ENSG00000152778 NA synonymous SNV ENSG00000152778:ENST00000371795:exon2:c.C1044T:p.Y348Y,ENSG00000152778:ENST00000416601:exon3:c.C900T:p.Y300Y NA NA 10q23.31 NA NA NA NA rs304448 0.66 0.66 0.672 0.650759 0.5358 0.8571 0.5029 0.7201 0.5675 0.54 0.85 0.48 0.74 0.5654 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 0.016579 NA NA 0.505698 0.688833 NA 0.522 NA 4.0597686 1254 19 33390796 33390796 G A exonic CEP89 NA synonymous SNV CEP89:NM_032816:exon16:c.C1842T:p.N614N exonic ENSG00000121289 NA synonymous SNV ENSG00000121289:ENST00000305768:exon16:c.C1842T:p.N614N NA NA 19q13.11 Score=860;Name=V$RFX1_01 NA NA NA rs10418340 0.92 0.92 0.907 0.930112 0.8529 0.8988 0.9308 0.9909 0.9591 0.87 0.92 0.94 0.99 0.8949 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 -1.6401 NA NA 0.859302 0.970268 NA 0.928 NA 4.0595646 1254 10 7618501 7618501 A G exonic ITIH5 NA synonymous SNV ITIH5:NM_032817:exon6:c.T1251C:p.D417D,ITIH5:NM_001001851:exon10:c.T1893C:p.D631D,ITIH5:NM_030569:exon10:c.T1893C:p.D631D exonic ENSG00000123243 NA synonymous SNV ENSG00000123243:ENST00000298441:exon6:c.T1251C:p.D417D,ENSG00000123243:ENST00000256861:exon10:c.T1893C:p.D631D,ENSG00000123243:ENST00000397145:exon10:c.T1893C:p.D631D,ENSG00000123243:ENST00000397146:exon10:c.T1893C:p.D631D,ENSG00000123243:ENST00000446830:exon10:c.T1239C:p.D413D NA NA 10p14 NA NA NA NA rs2275068 0.57 0.57 0.525 0.53115 0.5219 0.7679 0.5461 0.3646 0.5112 0.51 0.79 0.55 0.39 0.5481 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 0.160999 NA NA 0.537218 0.406945 ID=COSM1349156,COSM427934;OCCURENCE=2(breast),1(large_intestine) 0.551 NA 4.0594486 1254 9 139565150 139565150 A G intronic EGFL7 NA NA NA intronic ENSG00000172889 NA NA NA NA NA 9q34.3 NA Name=ZBTB33,Pol2(b),Pol2 Name=11 NA rs4636297 0.68 0.68 0.635 0.694289 0.6362 0.8135 0.6455 0.6346 0.7464 0.65 0.83 0.64 0.61 0.6686 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 1.046896 NA NA 0.636351 0.631579 NA 0.522 NA 4.058849 1254 1 183895435 183895435 A C UTR3 RGL1 NM_015149:c.*9A>C NA NA UTR3 ENSG00000143344 ENST00000304685:c.*9A>C,ENST00000367531:c.*9A>C,ENST00000536277:c.*9A>C,ENST00000360851:c.*9A>C,ENST00000539189:c.*9A>C NA NA NA NA 1q25.3 NA NA NA NA rs4382680 0.05 0.05 0.041 0.0385383 0.1123 0.002 0.062 0.0061 0.0276 0.11 NA 0.08 0.01 0.0693 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 1.65838 1.65838 NA 0.09314 0.015887 NA 0.043 NA 4.0585934 1254 X 153008911 153008911 C T intronic ABCD1 NA NA NA ncRNA_intronic ENSG00000232725 NA NA NA NA NA Xq28 NA Name=ZBTB7A_(SC-34508) NA NA rs4898368 0.58 0.58 0.58506 NA NA NA NA NA NA 0.62 0.56 0.65 0.5 0.6504 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474138 NA NA 0.624497 0.488889 NA 0.145 NA 4.0584363 1254 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 1254 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 1254 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 1254 19 53100377 53100377 G A ncRNA_exonic ZNF137P NA NA NA ncRNA_exonic ENSG00000123870 NA NA NA NA NA 19q13.41 NA NA NA NA rs7250969 0.16 0.16 0.166 0.16234 0.2038 0.0159 0.1455 0.2829 0.1196 0.2 0.01 0.17 0.27 0.1863 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.255494 NA 0.18 0.219173 0.237765 NA 0.203 NA 4.0573936 1254 21 44841052 44841052 T C intronic SIK1 NA NA NA intronic ENSG00000142178 NA NA NA NA NA 21q22.3 NA NA Name=6 NA rs2006112 0.37 0.37 0.356 0.416334 0.3062 0.2718 0.232 0.7481 0.3609 0.3 0.26 0.26 0.69 0.3425 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 0.808329 NA NA 0.293953 0.675749 NA 0.355 NA 4.057347 1254 11 1094690 1094690 C T exonic MUC2 NA synonymous SNV MUC2:NM_002457:exon32:c.C5766T:p.T1922T exonic ENSG00000198788 NA synonymous SNV ENSG00000198788:ENST00000333592:exon2:c.C642T:p.T214T,ENSG00000198788:ENST00000361558:exon2:c.C192T:p.T64T,ENSG00000198788:ENST00000441003:exon31:c.C5778T:p.T1926T NA NA 11p15.5 NA NA NA NA rs10794291 0.73 0.73 0.748 0.754792 0.5099 0.9325 0.7363 0.848 0.7106 0.51 0.94 0.68 0.87 0.5992 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 -0.474566 NA NA 0.500474 0.789436 NA 0.71 NA 4.0570926 1254 20 32378732 32378732 G A intronic ZNF341 NA NA NA ncRNA_intronic ENSG00000230753 NA NA NA NA NA 20q11.22 NA NA NA NA rs2747565 0.37 0.37 0.363 0.388379 0.2763 0.4812 0.2421 0.4319 0.453 0.28 0.49 0.24 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 0.332438 NA NA NA NA NA 0.362 NA 4.0570333 1254 14 105413223 105413223 A G exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.T8565C:p.D2855D exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.T8565C:p.D2855D NA NA 14q32.33 NA NA NA NA rs55797226 0.49 0.49 0.47 0.527157 0.5318 0.4296 0.5086 0.5272 0.636 0.52 0.39 0.53 0.55 0.5379 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202526 NA NA 0.540082 0.584267 ID=COSM1368618;OCCURENCE=1(large_intestine) 0.543 NA 4.0568846 1254 1 44044468 44044468 C T intronic PTPRF NA NA NA intronic ENSG00000142949 NA NA NA NA NA 1p34.2 NA NA Name=5 NA rs11210874 0.27 0.27 0.233 0.270767 0.3161 0.4196 0.2406 0.087 0.3405 0.32 0.35 0.26 0.11 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 0.42823 NA NA 0.321047 0.12483 NA 0.225 NA 4.056753 1254 1 1887019 1887019 A G exonic KIAA1751 NA stoploss KIAA1751:NM_001080484:exon18:c.T2287C:p.X763Q intronic ENSG00000142609 NA NA NA NA NA 1p36.33 NA NA NA NA rs28548017 0.81 0.81 0.781 0.797724 0.8052 0.8591 0.8127 0.7511 0.7791 0.82 0.86 0.83 0.73 0.8168 0.86 . . . . . . . . 1.000 P . . . . . . . . . -1.192 0.076 -0.588 -0.644 -0.638 5.090 -1.191928 NA 0.58 0.821812 0.77963 NA 0.841 NA 4.056188 1254 15 79231518 79231518 A G intronic CTSH NA NA NA intronic ENSG00000103811 NA NA NA NA NA 15q25.1 NA Name=NFKB,BCL11A,BATF,EBF Name=15 NA rs11638844 0.49 0.49 0.467 0.480831 0.663 0.4663 0.6052 0.1936 0.6084 0.65 0.45 0.59 0.23 0.6064 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 0.313545 NA NA 0.674703 0.271175 NA 0.442 NA 4.055897 1254 5 140188401 140188401 A G exonic PCDHA4 NA synonymous SNV PCDHA4:NM_018907:exon1:c.A1629G:p.P543P,PCDHA4:NM_031500:exon1:c.A1629G:p.P543P exonic ENSG00000204967 NA synonymous SNV ENSG00000204967:ENST00000356878:exon1:c.A1629G:p.P543P,ENSG00000204967:ENST00000512229:exon1:c.A1629G:p.P543P,ENSG00000204967:ENST00000530339:exon1:c.A1629G:p.P543P NA NA 5q31.3 NA NA NA NA rs2879086 0.58 0.58 0.521 0.591254 0.5388 0.5317 0.6052 0.7194 0.5235 0.53 0.54 0.56 0.7 0.5446 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 -0.835653 NA NA 0.527448 0.703132 NA 0.5 NA 4.0558186 1254 11 66331458 66331458 A G exonic CTSF NA synonymous SNV CTSF:NM_003793:exon13:c.T1401C:p.R467R exonic ENSG00000174080 NA synonymous SNV ENSG00000174080:ENST00000310325:exon13:c.T1401C:p.R467R NA NA 11q13.2 NA NA NA NA rs572846 0.61 0.61 0.619 0.589058 0.5497 0.5536 0.4207 0.879 0.3937 0.55 0.57 0.46 0.88 0.53 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 -0.027817 NA NA 0.531315 0.8125 NA 0.514 NA 4.0556516 1254 13 36521460 36521460 A G intronic DCLK1 NA NA NA intronic ENSG00000133083 NA NA NA Score=731;Name=lod=1241 NA 13q13.3 Score=769;Name=V$PPARA_01 NA NA NA rs1936003 0.47 0.47 0.402 0.465655 0.672 0.4157 0.67 0.1067 0.6452 0.69 0.37 0.67 0.12 0.6148 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 3.99584 3.99584 NA 0.657907 0.194507 NA 0.464 NA 4.055293 1255 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 1255 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=GATA-2,c-Fos 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 1255 8 145662113 145662113 C T intronic TONSL NA NA NA ncRNA_intronic ENSG00000232600 NA NA NA NA NA 8q24.3 NA NA NA NA rs55665465 0.06 0.06 0.054 0.0459265 0.1034 0.001 0.147 0.0045 0.0174 0.1 0.0017 0.12 0.0041 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 1.259775 1.259775 NA 0.091163 0.021788 NA 0.101 NA 4.0537703 1255 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 1255 5 140188575 140188575 G C exonic PCDHA4 NA synonymous SNV PCDHA4:NM_018907:exon1:c.G1803C:p.S601S,PCDHA4:NM_031500:exon1:c.G1803C:p.S601S exonic ENSG00000204967 NA synonymous SNV ENSG00000204967:ENST00000356878:exon1:c.G1803C:p.S601S,ENSG00000204967:ENST00000512229:exon1:c.G1803C:p.S601S,ENSG00000204967:ENST00000530339:exon1:c.G1803C:p.S601S NA NA 5q31.3 NA NA NA NA rs2879087 0.58 0.58 0.562 0.591454 0.5388 0.5317 0.6066 0.7194 0.5235 0.54 0.54 0.56 0.7 0.5453 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.92264 NA NA 0.52896 0.705856 NA 0.587 NA 4.0536066 1255 15 101041896 101041896 T C exonic CERS3 NA synonymous SNV CERS3:NM_178842:exon4:c.A159G:p.R53R exonic ENSG00000154227 NA synonymous SNV ENSG00000154227:ENST00000284382:exon4:c.A159G:p.R53R,ENSG00000154227:ENST00000538112:exon4:c.A159G:p.R53R,ENSG00000154227:ENST00000558884:exon4:c.A159G:p.R53R,ENSG00000154227:ENST00000394113:exon5:c.A159G:p.R53R Score=471;Name=lod=109 NA 15q26.3 NA NA NA NA rs1354332 0.79 0.79 0.774 0.774361 0.8897 0.9286 0.8026 0.4887 0.863 0.87 0.92 0.81 0.52 0.8459 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 1.335375 1.335375 NA 0.877791 0.554471 NA 0.746 NA 4.0532756 1255 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 1255 5 140209467 140209467 T G exonic PCDHA6 NA synonymous SNV PCDHA6:NM_018909:exon1:c.T1791G:p.V597V,PCDHA6:NM_031848:exon1:c.T1791G:p.V597V exonic ENSG00000081842 NA synonymous SNV ENSG00000081842:ENST00000529310:exon1:c.T1791G:p.V597V NA NA 5q31.3 NA NA NA NA rs7710794 0.59 0.59 0.544 0.60024 0.5378 0.5327 0.6052 0.7534 0.5235 0.53 0.55 0.56 0.73 0.5475 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 -1.557459 NA NA 0.528256 0.724467 NA 0.283 NA 4.0531106 1255 4 100257907 100257907 T C UTR3 ADH1C NM_000669:c.*2A>G NA NA UTR3 ENSG00000248144 ENST00000515683:c.*2A>G NA NA NA NA 4q23 NA NA NA NA rs2298753 0.07 0.07 0.053 0.0642971 0.0895 0.0516 0.1023 0.0068 0.1022 0.1 0.05 0.14 0.01 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 0.840017 NA NA 0.092558 0.030186 NA 0.036 NA 4.0528754 1255 10 126681688 126681688 T C intronic CTBP2 NA NA NA intronic ENSG00000175029 NA NA NA NA NA 10q26.13 NA Name=Pol2,CTCF NA NA rs7097802 0.93 0.93 0.913 0.912141 0.9473 0.9583 0.9726 0.8873 0.819 0.94 0.97 0.97 0.84 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 -0.286085 NA NA NA NA NA 0.913 NA 4.0527 1255 10 74671611 74671611 C T intronic OIT3 NA NA NA intronic ENSG00000138315 NA NA NA NA NA 10q22.1 NA Name=MafK_(ab50322),MafF_(M8194) NA NA rs3750736 0.35 0.35 0.334 0.345647 0.328 0.6002 0.4193 0.0749 0.4151 0.33 0.6 0.37 0.09 0.3375 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.110476 NA NA 0.281977 0.102133 NA 0.203 NA 4.052523 1255 2 43926943 43926943 T A exonic PLEKHH2 NA synonymous SNV PLEKHH2:NM_172069:exon8:c.T846A:p.P282P exonic ENSG00000152527 NA synonymous SNV ENSG00000152527:ENST00000282406:exon8:c.T846A:p.P282P NA NA 2p21 NA NA NA NA rs7606783 0.49 0.49 0.503 0.527157 0.5467 0.1647 0.4741 0.7935 0.5583 0.53 0.15 0.52 0.78 0.5322 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 0.323531 NA NA 0.535581 0.748071 NA 0.464 NA 4.0521856 1255 2 62729674 62729674 T C exonic TMEM17 NA synonymous SNV TMEM17:NM_198276:exon3:c.A216G:p.L72L exonic ENSG00000186889 NA synonymous SNV ENSG00000186889:ENST00000335390:exon3:c.A216G:p.L72L Score=532;Name=lod=193 NA 2p15 NA NA NA NA rs4672527 0.81 0.81 0.83 0.811302 0.8718 0.6865 0.7752 0.8638 0.8323 0.89 0.71 0.77 0.86 0.8545 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 0.116411 NA NA 0.888256 0.862687 NA 0.804 NA 4.0521106 1255 5 140201420 140201420 T C exonic PCDHA5 NA synonymous SNV PCDHA5:NM_018908:exon1:c.T60C:p.L20L,PCDHA5:NM_031501:exon1:c.T60C:p.L20L exonic ENSG00000204965 NA synonymous SNV ENSG00000204965:ENST00000378126:exon1:c.T60C:p.L20L,ENSG00000204965:ENST00000529619:exon1:c.T60C:p.L20L,ENSG00000204965:ENST00000529859:exon1:c.T60C:p.L20L NA NA 5q31.3 NA NA NA NA rs11958868 0.58 0.58 0.573 0.601038 0.5388 0.5337 0.6037 0.7557 0.5235 0.53 0.55 0.56 0.72 0.5478 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.788325 NA NA 0.528256 0.690649 NA 0.522 NA 4.0518106 1255 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 1255 14 35099099 35099099 A G intronic SNX6 NA NA NA intronic ENSG00000129515 NA NA NA NA NA 14q13.1 NA Name=PU.1,EBF,ZNF263,Sin3Ak-20,ELF1_(SC-631),TAF7_(SQ-8) Name=10 NA rs11847568 0.7 0.7 0.697 0.739217 0.6292 0.7173 0.7147 0.8661 0.7209 0.62 0.66 0.73 0.86 0.6928 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 1.219865 NA NA 0.627526 0.816845 NA 0.616 NA 4.050474 1255 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 1255 14 105414810 105414810 C G exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.G6978C:p.L2326L exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.G6978C:p.L2326L NA NA 14q32.33 NA NA NA NA rs10145032 0.51 0.51 0.529 0.532348 0.5298 0.4276 0.5288 0.5431 0.6309 0.52 0.41 0.58 0.56 0.5435 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.716332 NA NA 0.544069 0.595527 NA 0.565 NA 4.0492976 1255 15 102190382 102190382 G A intronic TM2D3 NA NA NA UTR5 ENSG00000184277 ENST00000561373:c.-44C>T NA NA NA NA 15q26.3 NA NA NA NA rs62027585 0.02 0.02 0.018 0.0209665 0.0378 0.0089 0.0202 0.0008 0.044 0.04 0.01 0.02 0.002 0.0326 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 -1.099389 NA NA 0.046977 0.007036 NA 0.036 NA 4.0492897 1255 19 3151686 3151686 A C intronic GNA15 NA NA NA ncRNA_intronic ENSG00000267551 NA NA NA NA NA 19p13.3 NA NA NA NA rs72983023 0.06 0.06 0.047 0.0449281 0.1103 NA 0.0548 0.0189 0.0521 0.11 NA 0.07 0.03 0.0755 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 2.579463 2.579463 NA 0.098605 0.02769 NA 0.029 NA 4.0489283 1255 11 45926445 45926445 T C intronic MAPK8IP1 NA NA NA intronic ENSG00000121653 NA NA NA NA NA 11p11.2 NA Name=GATA-2,Pol2,E2F6 NA NA rs2271847 0.7 0.7 0.705 0.705671 0.9513 0.4663 0.6916 0.5817 0.8773 0.96 0.43 0.73 0.6 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 -0.734308 NA NA NA NA NA 0.746 NA 4.0487 1255 12 131359298 131359298 C A intronic RAN NA NA NA intronic ENSG00000132341 NA NA NA NA NA 12q24.33 NA Name=CEBPB NA NA rs7958223 0.29 0.29 0.289 0.259984 0.332 0.1944 0.2795 0.323 0.1544 0.34 0.21 0.3 0.29 0.3009 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.813347 NA NA 0.318721 0.325465 ID=COSN164403;OCCURENCE=1(breast) 0.203 NA 4.048379 1255 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 1255 11 20112373 20112373 A G intronic NAV2 NA NA NA intronic ENSG00000166833 NA NA NA NA NA 11p15.1 NA NA Name=15 NA rs2289560 0.4 0.4 0.372 0.349042 0.3082 0.6339 0.4308 0.2504 0.1728 0.32 0.61 0.41 0.27 0.3365 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.483856 1.483856 NA 0.308023 0.233091 NA 0.384 NA 4.047277 1255 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 1255 2 99804642 99804642 T C exonic MRPL30 NA synonymous SNV MRPL30:NM_145212:exon3:c.T54C:p.T18T exonic ENSG00000185414,ENSG00000241962 NA synonymous SNV ENSG00000185414:ENST00000409841:exon2:c.T54C:p.T18T,ENSG00000185414:ENST00000338148:exon3:c.T54C:p.T18T,ENSG00000185414:ENST00000409145:exon3:c.T54C:p.T18T,ENSG00000241962:ENST00000512183:exon3:c.T54C:p.T18T,ENSG00000185414:ENST00000410042:exon4:c.T54C:p.T18T,ENSG00000241962:ENST00000424491:exon6:c.T144C:p.T48T NA NA 2q11.2 Score=808;Name=V$PAX3_01 NA NA NA rs10865030 0.87 0.87 0.851 0.825479 0.8757 0.9534 0.9308 0.6884 0.7526 0.86 0.98 0.93 0.7 0.8641 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 -1.697565 NA NA 0.880498 0.745347 NA 0.841 NA 4.0463686 1255 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 1255 14 105407031 105407031 A G exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.T14757C:p.S4919S exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.T14757C:p.S4919S NA NA 14q32.33 NA NA NA NA rs11623422 0.52 0.52 0.538 0.554912 0.5338 0.4107 0.5115 0.6437 0.636 0.53 0.39 0.55 0.66 0.546 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 0.164973 NA NA 0.541606 0.671859 ID=COSM432727;OCCURENCE=1(breast) 0.601 NA 4.0452606 1256 14 105408315 105408315 T C exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.A13473G:p.P4491P exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.A13473G:p.P4491P NA NA 14q32.33 NA NA NA NA rs28600075 0.53 0.53 0.519 0.555511 0.5338 0.4117 0.5115 0.646 0.635 0.53 0.39 0.55 0.67 0.5458 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.02259 NA NA 0.542225 0.676139 NA 0.601 NA 4.0448416 1256 14 105408030 105408030 A G exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.T13758C:p.D4586D exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.T13758C:p.D4586D NA NA 14q32.33 NA NA NA NA rs9671643 0.52 0.52 0.518 0.555511 0.5338 0.4117 0.5144 0.6437 0.636 0.53 0.39 0.55 0.65 0.5458 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 0.101112 NA NA 0.54223 0.674886 NA 0.601 NA 4.0448366 1256 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 1256 2 242176019 242176019 T C intronic HDLBP NA NA NA intronic ENSG00000115677 NA NA NA NA NA 2q37.3 NA Name=Pol2 NA NA rs2305073 0.29 0.29 0.261 0.283347 0.3231 0.2044 0.2305 0.3411 0.2832 0.33 0.22 0.23 0.36 0.3015 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776531 NA NA 0.331047 0.317295 NA 0.384 NA 4.044353 1256 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 1256 18 56149048 56149048 A G UTR3 ALPK2 NM_052947:c.*7T>C NA NA UTR3 ENSG00000198796 ENST00000361673:c.*7T>C NA NA NA NA 18q21.31 NA Name=HNF4A_(H-171),RXRA,TCF4,HDAC2_(SC-6296) NA NA rs3744867 0.4 0.4 0.391 0.36222 0.4692 0.2143 0.3343 0.4372 0.3231 0.49 0.25 0.4 0.46 0.3975 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122921 NA NA 0.423023 0.413981 NA 0.406 NA 4.0436104 1256 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 1256 14 105405942 105405942 G A exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.C15846T:p.L5282L exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000557457:exon3:c.C840T:p.L280L,ENSG00000185567:ENST00000333244:exon7:c.C15846T:p.L5282L NA NA 14q32.33 NA NA NA NA rs28454709 0.52 0.52 0.549 0.554912 0.5338 0.4107 0.5115 0.6437 0.636 0.53 0.39 0.55 0.66 0.5455 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 -0.338927 NA NA 0.54382 0.671429 NA 0.58 NA 4.0435466 1256 13 25075859 25075859 C T exonic PARP4 NA synonymous SNV PARP4:NM_006437:exon3:c.G246A:p.R82R exonic ENSG00000102699 NA synonymous SNV ENSG00000102699:ENST00000381989:exon3:c.G246A:p.R82R NA NA 13q12.12 NA NA NA NA rs1539096 0.59 0.59 0.557 0.605232 0.5119 0.6062 0.6037 0.618 0.684 0.51 0.66 0.62 0.63 0.5724 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 -0.734429 NA NA 0.538837 0.580572 NA 0.659 NA 4.0435296 1256 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 1256 14 105409959 105409959 G T exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.C11829A:p.A3943A exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.C11829A:p.A3943A NA NA 14q32.33 NA NA NA NA rs10152073 0.52 0.52 0.53 0.554313 0.5358 0.4117 0.5144 0.6369 0.637 0.53 0.39 0.55 0.65 0.5443 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 0.040267 NA NA 0.543756 0.671694 NA 0.507 NA 4.0428106 1256 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 1256 10 120919179 120919179 G A intronic SFXN4 NA NA NA intronic ENSG00000183605 NA NA NA NA NA 10q26.11 NA Name=USF-1 NA NA rs3740558 0.53 0.53 0.51 0.508187 0.4622 0.7163 0.4856 0.4463 0.4407 0.47 0.7 0.49 0.46 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 0.534468 NA NA 0.4956 0.442919 NA 0.5 NA 4.0422 1256 16 66420885 66420885 C T exonic CDH5 NA synonymous SNV CDH5:NM_001795:exon3:c.C384T:p.G128G exonic ENSG00000179776 NA synonymous SNV ENSG00000179776:ENST00000563425:exon2:c.C384T:p.G128G,ENSG00000179776:ENST00000341529:exon3:c.C384T:p.G128G,ENSG00000179776:ENST00000562048:exon3:c.C384T:p.G128G NA NA 16q21 NA NA NA NA rs1130844 0.64 0.64 0.627 0.622204 0.5119 0.8175 0.7017 0.5582 0.5644 0.53 0.84 0.63 0.58 0.5835 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 -1.298127 NA NA 0.529186 0.563351 NA 0.507 NA 4.0420806 1256 1 28733993 28733993 G T intronic PHACTR4 NA NA NA intronic ENSG00000204138 NA NA NA Score=446;Name=lod=87 NA 1p35.3 NA NA NA NA rs12091029 0.35 0.35 0.321 0.330072 0.3489 0.0704 0.3112 0.6437 0.1677 0.36 0.09 0.33 0.63 0.3102 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.074007 NA NA 0.298846 0.594875 NA 0.348 NA 4.042054 1256 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 1256 6 97339088 97339088 C T exonic NDUFAF4 NA synonymous SNV NDUFAF4:NM_014165:exon3:c.G420A:p.Q140Q exonic ENSG00000123545 NA synonymous SNV ENSG00000123545:ENST00000316149:exon3:c.G420A:p.Q140Q NA NA 6q16.1 NA NA NA NA rs11402 0.93 0.93 0.933 0.933906 0.8668 0.999 0.915 0.9682 0.9029 0.87 1 0.9 0.98 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 -0.970024 NA NA 0.863457 0.948229 NA 0.949 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117706.2;CLNDSDB=.;CLNDSDBID=. 4.0420096 1256 15 78280404 78280404 C T intergenic LOC645752,LOC91450 dist=61216;dist=5171 NA NA ncRNA_intronic ENSG00000261143 NA NA NA NA NA 15q24.3 NA Name=CTCF NA NA rs7163997 0.89 0.89 0.858 0.840256 0.9583 0.9891 0.9135 0.6778 0.7331 0.95 0.99 0.87 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 -0.710185 NA NA NA NA NA 0.819 NA 4.0417 1256 3 14551444 14551444 A G exonic GRIP2 NA unknown UNKNOWN ncRNA_exonic ENSG00000144596 NA NA NA Score=437;Name=lod=80 NA 3p25.1 NA NA NA NA rs9845816 0.66 0.66 0.639 0.710064 0.5706 0.7857 0.6945 0.6437 0.8763 0.57 0.8 0.65 0.63 0.6373 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 1.232467 NA NA 0.584469 0.638501 NA 0.659 NA 4.0409643 1256 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=HEY1,ELF1_(SC-631),HNF4A,NF-YA,HNF4G_(SC-6558),ETS1,Pol2-4H8,GABP,RFX5_(N-494),TAF1,NFKB,CTCF,p300,FOXA1_(SC-101058),CHD2_(N-1250),Pol2,FOSL2,USF-1,Pol2(phosphoS2),ZNF263,MafK_(SC-477),NF-YB,NANOG_(SC-33759),BRCA1_(C-1863),ZBTB7A_(SC-34508),PU.1,TBP,Egr-1,Sin3Ak-20,Rad21,c-Myc,IRF1,SP1,YY1_(C-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 1256 20 62236148 62236148 T C exonic GMEB2 NA synonymous SNV GMEB2:NM_012384:exon3:c.A177G:p.A59A exonic ENSG00000101216 NA synonymous SNV ENSG00000101216:ENST00000370069:exon1:c.A24G:p.A8A,ENSG00000101216:ENST00000266068:exon2:c.A177G:p.A59A,ENSG00000101216:ENST00000370077:exon3:c.A177G:p.A59A NA NA 20q13.33 Score=939;Name=V$LMO2COM_01 NA NA NA rs6090471 0.64 0.64 0.722 0.672724 0.9165 0.6171 0.6844 0.5499 0.637 0.8 0.58 0.66 0.47 0.7988 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 -0.128186 NA NA 0.911047 0.620971 NA 0.754 NA 4.0403196 1256 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 1256 2 216249587 216249587 C T exonic FN1 NA synonymous SNV FN1:NM_002026:exon28:c.G4452A:p.E1484E,FN1:NM_212474:exon28:c.G4452A:p.E1484E,FN1:NM_212476:exon28:c.G4452A:p.E1484E,FN1:NM_212478:exon28:c.G4452A:p.E1484E,FN1:NM_212482:exon29:c.G4725A:p.E1575E exonic ENSG00000115414 NA synonymous SNV ENSG00000115414:ENST00000456923:exon5:c.G873A:p.E291E,ENSG00000115414:ENST00000336916:exon28:c.G4452A:p.E1484E,ENSG00000115414:ENST00000345488:exon28:c.G4452A:p.E1484E,ENSG00000115414:ENST00000346544:exon28:c.G4452A:p.E1484E,ENSG00000115414:ENST00000356005:exon28:c.G4452A:p.E1484E,ENSG00000115414:ENST00000357009:exon28:c.G4452A:p.E1484E,ENSG00000115414:ENST00000357867:exon28:c.G4452A:p.E1484E,ENSG00000115414:ENST00000359671:exon28:c.G4452A:p.E1484E,ENSG00000115414:ENST00000421182:exon28:c.G4452A:p.E1484E,ENSG00000115414:ENST00000443816:exon28:c.G4452A:p.E1484E,ENSG00000115414:ENST00000446046:exon28:c.G4452A:p.E1484E,ENSG00000115414:ENST00000323926:exon29:c.G4725A:p.E1575E,ENSG00000115414:ENST00000354785:exon29:c.G4725A:p.E1575E,ENSG00000115414:ENST00000432072:exon29:c.G4725A:p.E1575E Score=528;Name=lod=186 NA 2q35 NA NA NA NA rs13652 0.89 0.89 0.882 0.86861 0.8787 0.999 0.8934 0.7799 0.8262 0.89 1 0.86 0.78 0.8752 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.932779 NA NA 0.872674 0.803677 NA 0.862 NA 4.0400926 1256 6 49989657 49989657 G A UTR5 DEFB110 NM_001037728:c.-9C>T,NM_001037497:c.-9C>T NA NA UTR5 ENSG00000203970 ENST00000371148:c.-9C>T NA NA NA NA 6p12.3 NA NA NA NA rs10948540 0.08 0.08 0.068 0.0660942 0.1064 0.0556 0.134 0.0159 0.0552 0.1 0.06 0.14 0.02 0.0951 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.26729 NA NA 0.091894 0.029841 NA 0.051 NA 4.0399394 1256 17 3568012 3568012 A G exonic TAX1BP3 NA synonymous SNV TAX1BP3:NM_001204698:exon2:c.T120C:p.D40D,TAX1BP3:NM_014604:exon2:c.T120C:p.D40D exonic ENSG00000213977 NA synonymous SNV ENSG00000213977:ENST00000225525:exon2:c.T120C:p.D40D Score=634;Name=lod=505 NA 17p13.2 NA NA NA NA rs8278 0.81 0.81 0.789 0.792532 0.8887 0.6746 0.8473 0.7943 0.774 0.89 0.67 0.87 0.8 0.8451 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 1.351802 1.351802 NA 0.89314 0.820699 NA 0.833 NA 4.0397266 1256 10 101645498 101645498 T C exonic DNMBP NA synonymous SNV DNMBP:NM_015221:exon14:c.A3744G:p.P1248P exonic ENSG00000107554 NA synonymous SNV ENSG00000107554:ENST00000540316:exon6:c.A552G:p.P184P,ENSG00000107554:ENST00000543621:exon11:c.A1482G:p.P494P,ENSG00000107554:ENST00000324109:exon14:c.A3744G:p.P1248P,ENSG00000107554:ENST00000342239:exon14:c.A3816G:p.P1272P NA NA 10q24.2 NA NA NA NA rs2490763 0.47 0.47 0.469 0.478634 0.5388 0.2698 0.4827 0.587 0.4826 0.51 0.29 0.53 0.55 0.5647 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.524203 NA NA 0.523488 0.583296 NA 0.543 NA 4.0396786 1256 6 133135864 133135864 T G intronic RPS12 NA NA NA intronic ENSG00000112306 NA NA NA NA NA 6q23.2 NA Name=Pol2,GATA-1,HEY1,Pol2-4H8,BCL11A,NFKB,TAF1,MEF2C_(SC-13268),YY1_(C-20),Pol2(b),PAX5-N19 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 1256 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 1256 2 101096960 101096960 C T exonic NMS NA synonymous SNV NMS:NM_001011717:exon7:c.C339T:p.G113G exonic ENSG00000204640 NA synonymous SNV ENSG00000204640:ENST00000376865:exon7:c.C339T:p.G113G NA NA 2q11.2 NA NA NA NA rs1519654 0.76 0.76 0.758 0.803714 0.5 1 0.6859 0.9183 0.8425 0.53 1 0.65 0.92 0.6384 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.364836 NA NA 0.491395 0.851339 ID=COSM1398398;OCCURENCE=1(large_intestine) 0.601 NA 4.0368716 1256 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 1256 5 41049389 41049389 T C exonic MROH2B NA synonymous SNV MROH2B:NM_173489:exon14:c.A1494G:p.T498T exonic ENSG00000171495 NA synonymous SNV ENSG00000171495:ENST00000506092:exon4:c.A159G:p.T53T,ENSG00000171495:ENST00000399564:exon14:c.A1494G:p.T498T Score=449;Name=lod=89 NA 5p13.1 NA NA NA NA rs325863 0.81 0.81 0.791 0.80631 0.8877 0.6776 0.8271 0.8011 0.8476 0.89 0.65 0.86 0.83 0.8485 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 1.13345 NA NA 0.893917 0.814404 NA 0.819 NA 4.0365496 1256 8 33370985 33370985 A G upstream TTI2 NA NA NA UTR5 ENSG00000129696 ENST00000431156:c.-854T>C NA NA NA NA 8p12 NA Name=GCN5,Max,ZBTB33,Oct-2,c-Myc,IRF1,p300_(N-15),SP1,SRF,RXRA,MEF2C_(SC-13268),NRSF,Pol2(b),TR4,Egr-1,TBP,CCNT2,EBF,NANOG_(SC-33759),RPC155,HNF4A_(H-171),ZNF263,GTF2F1_(RAP-74),JunD,FOSL2,Pol2,Pol2(phosphoS2),USF-1,USF1_(SC-8983),FOXA1_(SC-101058),p300,TAF7_(SQ-8),POU2F2,GTF2B,TAF1,c-Jun,NFKB,IRF4_(M-17),EBF1_(C-8),MEF2A,eGFP-JunB,Pol2-4H8,ELF1_(SC-631),NF-YA,HEY1,KAP1,HNF4G_(SC-6558),ETS1,GATA-1,BCLAF1_(M33-P5B11) Name=148 NA rs2581896 0.61 0.61 0.634 0.588059 0.672 0.5565 0.5029 0.6467 0.5153 0.66 0.56 0.52 0.66 0.6189 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 -1.037327 NA NA 0.673782 0.658676 NA 0.703 NA 4.035318 1256 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 1257 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 1257 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 1257 3 127983495 127983495 T C exonic EEFSEC NA synonymous SNV EEFSEC:NM_021937:exon4:c.T657C:p.D219D exonic ENSG00000132394 NA synonymous SNV ENSG00000132394:ENST00000254730:exon4:c.T657C:p.D219D Score=608;Name=lod=396 NA 3q21.3 NA NA NA NA rs2811544 0.87 0.87 0.853 0.844449 0.8847 0.9931 0.8617 0.6989 0.8344 0.89 0.99 0.87 0.68 0.8724 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 0.906098 NA NA 0.875 0.716296 NA 0.833 NA 4.0345666 1257 12 48879951 48879951 T G intronic C12orf54 NA NA NA ncRNA_intronic ENSG00000258121 NA NA NA Score=251;Name=lod=14 NA 12q13.11 NA NA NA NA rs11168599 0.28 0.28 0.277 0.234425 0.4483 0.1488 0.2767 0.0492 0.3231 0.47 0.18 0.31 0.08 0.3798 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.793287 1.793287 NA 0.47093 0.114163 NA 0.326 NA 4.0343033 1257 8 110416813 110416813 C T exonic PKHD1L1 NA synonymous SNV PKHD1L1:NM_177531:exon15:c.C1404T:p.Y468Y exonic ENSG00000205038 NA synonymous SNV ENSG00000205038:ENST00000378402:exon15:c.C1404T:p.Y468Y NA NA 8q23.1 NA NA NA NA rs1457286 0.55 0.55 0.537 0.598243 0.5239 0.3968 0.6556 0.6929 0.7137 0.51 0.42 0.63 0.69 0.5665 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 -1.771864 NA NA 0.542276 0.68599 NA 0.638 NA 4.0339906 1257 8 33416189 33416189 G A exonic RNF122 NA synonymous SNV RNF122:NM_024787:exon2:c.C126T:p.F42F exonic ENSG00000133874 NA synonymous SNV ENSG00000133874:ENST00000256257:exon2:c.C126T:p.F42F NA NA 8p12 NA NA NA NA rs3735950 0.52 0.52 0.552 0.496805 0.5606 0.381 0.4496 0.6165 0.4223 0.56 0.4 0.47 0.64 0.5097 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125941 NA NA 0.562442 0.598956 NA 0.565 NA 4.0339246 1257 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 1257 4 100268190 100268190 A C exonic ADH1C NA unknown UNKNOWN exonic ENSG00000248144 NA unknown UNKNOWN Score=439;Name=lod=81 NA 4q23 NA NA NA NA rs283413 0.93 0.93 0.996 0.992812 0.993 0.999 0.9841 1 0.9826 0.93 0.94 0.93 0.91 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 1.607835 1.607835 NA 0.988364 0.997957 NA 0.993 CLINSIG=other;CLNDBN=Parkinson_disease\x2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000019812.1;CLNDSDB=MedGen;CLNDSDBID=C2676020 4.033836 1257 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=PU.1,PAX5-C20 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 1257 17 8076916 8076916 C T UTR3 TMEM107 NM_183065:c.*605G>A,NM_032354:c.*605G>A NA NA UTR3 ENSG00000179029 ENST00000449985:c.*654G>A NA NA NA NA 17p13.1 NA Name=CCNT2,TBP,Egr-1,ELK4,Pol2(b),PU.1,YY1,BRCA1_(C-1863),CEBPB,AP-2alpha,GTF2F1_(RAP-74),ZNF263,GR,eGFP-GATA2,BHLHE40,JunD,YY1_(C-20),ZBTB33,Max,GCN5,SRF,p300_(N-15),SP1,c-Myc,Oct-2,eGFP-JunD,RXRA,FOSL1_(SC-183),Sin3Ak-20,SETDB1,PAX5-C20,STAT3,BCL3,NFKB,RFX5_(N-494),ZEB1_(SC-25388),HMGN3,TAF1,c-Jun,eGFP-JunB,Pol2-4H8,MEF2A,HNF4G_(SC-6558),HEY1,ELF1_(SC-631),STAT1,BCLAF1_(M33-P5B11),GATA-1,E2F1,Pol2(phosphoS2),USF-1,POU5F1_(SC-9081),Pol2,FOSL2,CHD2_(N-1250),FOXA1_(SC-101058),USF1_(SC-8983),TAF7_(SQ-8),TCF12,p300,HDAC2_(SC-6296),GTF2B,POU2F2 NA NA rs11650713 0.6 0.6 NA 0.586661 0.6571 0.494 0.6744 0.4561 0.7239 0.68 0.54 0.68 0.47 0.6425 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.034669 NA NA NA NA NA 0.587 NA 4.0337334 1257 6 74228049 74228049 A G intronic EEF1A1 NA NA NA intronic ENSG00000156508 NA NA NA NA NA 6q13 NA Name=Pol2-4H8,Pol2,TAF7_(SQ-8) Name=9 NA rs1874230 0.5 0.5 0.488 0.497005 0.6889 0.4177 0.3905 0.329 0.684 0.69 0.44 0.42 0.35 0.5994 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 -2.432808 NA NA 0.678305 0.388965 NA 0.616 NA 4.033395 1257 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 1257 14 60581863 60581863 G A exonic PCNXL4 NA synonymous SNV PCNXL4:NM_022495:exon3:c.G339A:p.P113P exonic ENSG00000126773 NA synonymous SNV ENSG00000126773:ENST00000317623:exon3:c.G339A:p.P113P,ENSG00000126773:ENST00000404681:exon3:c.G1041A:p.P347P,ENSG00000126773:ENST00000406949:exon3:c.G339A:p.P113P,ENSG00000126773:ENST00000406854:exon4:c.G1041A:p.P347P NA NA 14q23.1 NA NA Name=17 NA rs219314 0.76 0.76 0.743 0.692292 0.9016 0.7232 0.8775 0.4244 0.6759 0.91 0.75 0.87 0.46 0.8323 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 -1.665255 NA NA 0.899657 0.506543 NA 0.79 NA 4.0331096 1257 13 46077381 46077381 G A exonic COG3 NA synonymous SNV COG3:NM_031431:exon14:c.G1491A:p.Q497Q exonic ENSG00000136152 NA synonymous SNV ENSG00000136152:ENST00000349995:exon14:c.G1491A:p.Q497Q Score=569;Name=lod=275 NA 13q14.13 NA NA NA NA rs3014960 0.9 0.9 0.9 0.903355 0.8588 0.8899 0.9164 0.9448 0.8978 0.85 0.91 0.9 0.95 0.8893 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 2.222718 2.222718 NA 0.886279 0.939401 NA 0.862 NA 4.0322876 1257 X 149013727 149013727 A G exonic MAGEA8 NA synonymous SNV MAGEA8:NM_001166401:exon3:c.A681G:p.A227A,MAGEA8:NM_005364:exon3:c.A681G:p.A227A,MAGEA8:NM_001166400:exon4:c.A681G:p.A227A exonic ENSG00000156009 NA synonymous SNV ENSG00000156009:ENST00000286482:exon3:c.A681G:p.A227A,ENSG00000156009:ENST00000542674:exon3:c.A681G:p.A227A,ENSG00000156009:ENST00000535454:exon4:c.A681G:p.A227A NA NA Xq28 NA NA NA NA rs5983916 0.87 0.87 0.84897 NA NA NA NA NA NA 0.8 0.88 0.89 0.97 0.8401 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 0.133142 NA NA 0.794826 0.958018 NA 0.681 NA 4.0317406 1257 16 5139217 5139217 C G exonic FAM86A NA synonymous SNV FAM86A:NM_201598:exon6:c.G681C:p.G227G,FAM86A:NM_201400:exon7:c.G783C:p.G261G exonic ENSG00000118894 NA synonymous SNV ENSG00000118894:ENST00000587133:exon5:c.G600C:p.G200G,ENSG00000118894:ENST00000458008:exon6:c.G681C:p.G227G,ENSG00000118894:ENST00000427587:exon7:c.G783C:p.G261G NA NA 16p13.3 Score=721;Name=V$NRSF_01 NA NA NA rs9745857 0.84 0.84 0.801 0.808906 0.8857 0.9127 0.7939 0.6415 0.8599 0.9 0.91 0.82 0.67 0.8544 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 -0.049218 NA NA 0.895826 0.700798 NA 0.232 NA 4.0307406 1257 4 178363378 178363378 G A intronic AGA NA NA NA intronic ENSG00000038002 NA NA NA NA NA 4q34.3 NA Name=Sin3Ak-20,NRSF,IRF1,SRF,ZNF263,Pol2(b),CCNT2,TBP,TAF7_(SQ-8),Pol2,HA-E2F1,ELF1_(SC-631),HEY1,KAP1,TAF1,HMGN3,NFKB,GABP,Pol2-4H8 Name=148 NA rs11131799 0.58 0.58 0.568 0.610423 0.6531 0.6032 0.6182 0.447 0.7894 0.64 0.58 0.63 0.45 0.6553 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 1.3222 1.3222 NA 0.660926 0.500454 NA 0.616 NA 4.030674 1257 2 192711162 192711162 A C intronic SDPR NA NA NA intronic ENSG00000168497 NA NA NA Score=554;Name=lod=239 NA 2q32.3 NA Name=HEY1,GATA-2,Pol2 Name=30 NA rs4471838 0.92 0.92 0.908 0.905152 0.999 1 0.9654 0.6596 1 1 1 0.97 0.69 0.9725 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425948 NA NA 0.998372 0.703813 NA 0.891 NA 4.030128 1257 5 35700598 35700598 T C exonic SPEF2 NA synonymous SNV SPEF2:NM_024867:exon16:c.T2142C:p.N714N exonic ENSG00000152582 NA synonymous SNV ENSG00000152582:ENST00000504054:exon7:c.T660C:p.N220N,ENSG00000152582:ENST00000356031:exon16:c.T2142C:p.N714N,ENSG00000152582:ENST00000440995:exon16:c.T2127C:p.N709N,ENSG00000152582:ENST00000509059:exon16:c.T2127C:p.N709N NA NA 5p13.2 NA NA NA NA rs6451206 0.45 0.45 0.433 0.440495 0.5666 0.2599 0.4078 0.5318 0.3967 0.56 0.26 0.42 0.5 0.5095 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.405794 NA NA 0.560769 0.561988 ID=COSM449580;OCCURENCE=1(breast) 0.522 NA 4.0297976 1257 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 1257 4 1988193 1988193 T C ncRNA_exonic MIR943 NA NA NA ncRNA_exonic ENSG00000216105 NA NA NA NA NA 4p16.3 NA NA NA NA rs1077020 0.26 0.26 0.216 0.250399 0.1899 0.2639 0.2406 0.3865 0.1217 0.18 0.24 0.24 0.41 0.2356 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228402 NA NA 0.211651 0.333333 NA 0.196 NA 4.0295156 1257 21 34617213 34617213 T C intronic IFNAR2 NA NA NA intronic ENSG00000159110 NA NA NA NA NA 21q22.11 NA Name=CEBPB,PU.1 Name=12 NA rs2834158 0.62 0.62 0.649 0.608826 0.666 0.4256 0.5519 0.8313 0.4785 0.67 0.4 0.56 0.84 0.6218 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 0.113675 NA NA 0.683023 0.812528 NA 0.645 NA 4.029177 1257 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 1257 22 36907098 36907098 T C intronic EIF3D NA NA NA intronic ENSG00000100353 NA NA NA NA NA 22q12.3 NA Name=Rad21,CTCF,Pol2-4H8 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 1257 10 1088746 1088746 T G ncRNA_intronic IDI2-AS1 NA NA NA ncRNA_intronic ENSG00000232656 NA NA NA NA NA 10p15.3 NA NA NA NA rs7075188 0.16 0.16 0.159 0.150559 0.2406 0.0506 0.1801 0.1793 0.1012 0.23 0.04 0.21 0.17 0.1773 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066155 NA NA 0.220698 0.188606 NA 0.167 NA 4.0280686 1257 16 82131623 82131623 C G intronic HSD17B2 NA NA NA ncRNA_intronic ENSG00000261235 NA NA NA NA NA 16q23.3 NA NA NA NA rs8191243 0.19 0.19 0.168 0.182708 0.3062 0.0526 0.2248 0.0545 0.3333 0.32 0.06 0.26 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 0.360757 NA NA NA NA NA 0.196 NA 4.0271333 1257 22 22556270 22556270 T C intergenic TOP3B,VPREB1 dist=219123;dist=42930 NA NA exonic ENSG00000211641 NA synonymous SNV ENSG00000211641:ENST00000390286:exon2:c.T84C:p.S28S NA NA 22q11.22 NA Name=E2F6 NA NA rs5995639 0.49 0.49 0.541 0.555911 0.493 0.3641 0.4539 0.7292 0.6564 0.45 0.38 0.46 0.72 0.4911 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.137352 NA NA 0.488844 0.682299 NA 0.623 NA 4.027056 1257 2 242674959 242674959 T G intronic D2HGDH NA NA NA intronic ENSG00000180902 NA NA NA NA NA 2q37.3 NA Name=SMC3_(ab9263),ZBTB7A_(SC-34508),Sin3Ak-20,PAX5-C20,ERalpha_a,Max,TCF4,c-Myc,Rad21,HEY1,ELF1_(SC-631),CTCF_(C-20),CTCF_(SC-5916),HDAC2_(SC-6296),CTCF,Pol2(phosphoS2),Pol2,HA-E2F1 Name=128 NA rs62191977 0.73 0.73 0.657 0.742412 0.6501 0.6815 0.7695 0.9713 0.5716 0.64 0.68 0.72 0.94 0.6843 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 0.698298 NA NA 0.638687 0.910146 NA 0.71 NA 4.026913 1257 10 79579047 79579047 A G intronic DLG5 NA NA NA intronic ENSG00000151208 NA NA NA NA NA 10q22.3 Score=963;Name=V$MYOD_Q6 NA Name=3 NA rs1248635 0.71 0.71 0.679 0.720048 0.6471 0.7262 0.7767 0.7829 0.6636 0.62 0.75 0.76 0.78 0.675 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 0.223412 NA NA 0.651279 0.762823 NA 0.739 NA 4.026621 1257 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 1257 7 121081115 121081115 A C intergenic FAM3C,PTPRZ1 dist=44693;dist=432044 NA NA ncRNA_exonic ENSG00000234985 NA NA NA Score=582;Name=lod=310 NA 7q31.31 NA Name=PAX5-C20,PAX5-N19 Name=17 NA rs6466786 0.94 0.94 0.941 0.933307 0.995 1 0.9784 0.7625 1 1 1 0.97 0.77 0.981 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395078 NA NA 0.998139 0.81812 NA 0.877 NA 4.025861 1258 9 136412170 136412170 C T exonic ADAMTSL2 NA synonymous SNV ADAMTSL2:NM_001145320:exon9:c.C774T:p.D258D,ADAMTSL2:NM_014694:exon9:c.C774T:p.D258D exonic ENSG00000197859 NA synonymous SNV ENSG00000197859:ENST00000354484:exon9:c.C774T:p.D258D,ENSG00000197859:ENST00000393060:exon9:c.C774T:p.D258D,ENSG00000197859:ENST00000393061:exon9:c.C1101T:p.D367D Score=437;Name=lod=80 NA 9q34.2 NA NA NA NA rs2073874 0.75 0.75 0.761 0.724042 0.9056 0.5238 0.6859 0.761 0.7209 0.91 0.53 0.75 0.75 0.8194 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 0.808403 NA NA 0.91686 0.794371 NA 0.841 NA 4.0248066 1258 2 196866420 196866420 C T exonic DNAH7 NA synonymous SNV DNAH7:NM_018897:exon11:c.G1152A:p.T384T exonic ENSG00000118997 NA synonymous SNV ENSG00000118997:ENST00000312428:exon11:c.G1152A:p.T384T,ENSG00000118997:ENST00000410072:exon11:c.G1152A:p.T384T Score=491;Name=lod=132 NA 2q32.3 NA NA NA NA rs6434811 0.67 0.67 0.65 0.653754 0.9046 0.6498 0.7867 0.1868 0.9366 0.9 0.68 0.79 0.19 0.8282 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 0.488246 NA NA 0.909555 0.33847 NA 0.616 NA 4.0243116 1258 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 1258 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 1258 15 78337225 78337225 G A intronic TBC1D2B NA NA NA intronic ENSG00000167202 NA NA NA NA NA 15q25.1 NA NA Name=11 NA rs4886995 0.32 0.32 0.283 0.304113 0.2863 0.6101 0.4568 0.0197 0.2832 0.28 0.58 0.37 0.03 0.3779 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.58448 NA NA 0.312718 0.065346 NA 0.181 NA 4.023082 1258 4 103789810 103789810 C A intronic UBE2D3 NA NA NA intronic ENSG00000109332 NA NA NA NA NA 4q24 NA Name=Sin3Ak-20,TAL1_(SC-12984),TBP,E2F6,Pol2,HA-E2F1,GATA-1,BCLAF1_(M33-P5B11),TAF1,Pol2-4H8 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 1258 6 74229258 74229258 G T intronic EEF1A1 NA NA NA intronic ENSG00000156508 NA NA NA NA NA 6q13 NA Name=Pol2-4H8,TAF7_(SQ-8),Pol2 Name=48 NA rs2073466 0.51 0.51 0.487 0.511781 0.6889 0.4177 0.3919 0.3843 0.684 0.69 0.44 0.42 0.38 0.606 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 0.1977 NA NA 0.682225 0.426248 NA 0.623 NA 4.022875 1258 11 20099541 20099541 C T exonic NAV2 NA synonymous SNV NAV2:NM_001111019:exon14:c.C2262T:p.D754D,NAV2:NM_001111018:exon24:c.C4878T:p.D1626D,NAV2:NM_145117:exon24:c.C5070T:p.D1690D,NAV2:NM_182964:exon24:c.C5070T:p.D1690D,NAV2:NM_001244963:exon26:c.C5238T:p.D1746D exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000525322:exon12:c.C2217T:p.D739D,ENSG00000166833:ENST00000311043:exon13:c.C2262T:p.D754D,ENSG00000166833:ENST00000533917:exon14:c.C2262T:p.D754D,ENSG00000166833:ENST00000349880:exon24:c.C5070T:p.D1690D,ENSG00000166833:ENST00000360655:exon24:c.C4878T:p.D1626D,ENSG00000166833:ENST00000396085:exon24:c.C5070T:p.D1690D,ENSG00000166833:ENST00000396087:exon26:c.C5238T:p.D1746D,ENSG00000166833:ENST00000527559:exon27:c.C5025T:p.D1675D,ENSG00000166833:ENST00000540292:exon27:c.C5031T:p.D1677D Score=571;Name=lod=280 NA 11p15.1 NA NA NA NA rs6483642 0.91 0.91 0.913 0.908347 0.8887 0.9573 0.8919 0.8835 0.9233 0.89 0.96 0.88 0.91 0.8903 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 1.62613 1.62613 NA 0.864884 0.867907 NA 0.942 NA 4.0227826 1258 3 121643163 121643163 G C intronic SLC15A2 NA NA NA intronic ENSG00000163406 NA NA NA NA NA 3q13.33 NA Name=TAL1_(SC-12984) NA NA rs2293611 0.26 0.26 0.225 0.263978 0.335 0.1716 0.4049 0.1808 0.2986 0.34 0.15 0.41 0.15 0.3193 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076331 NA NA 0.323023 0.196096 NA 0.174 NA 4.022677 1258 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 1258 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 1258 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 1258 11 104839222 104839222 A G intronic CASP4 NA NA NA intronic ENSG00000196954 NA NA NA NA NA 11q22.3 NA Name=GTF2F1_(RAP-74),ELK4,Pol2(b),TBP,GATA-2,Pol2,HEY1,STAT1,Pol2-4H8,TAF1,NFKB Name=130 NA rs658560 0.71 0.71 0.741 0.733626 0.661 0.8026 0.5821 0.7988 0.7566 0.65 0.77 0.6 0.82 0.6635 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 0.084431 NA NA 0.653989 0.764532 NA 0.659 NA 4.021511 1258 9 123374639 123374639 T C intronic MEGF9 NA NA NA intronic ENSG00000106780 NA NA NA NA NA 9q33.2 NA Name=Rad21,GATA3_(SC-268),SMC3_(ab9263),FOXA1_(C-20),CTCF,CTCF_(SC-5916) Name=24 NA rs2416760 0.55 0.55 0.458 0.555711 0.6938 0.5813 0.7262 0.208 0.7362 0.69 0.55 0.71 0.2 0.665 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.420128 NA NA 0.619824 0.204608 NA 0.514 NA 4.021376 1258 16 11945231 11945231 T C intronic RSL1D1 NA NA NA intronic ENSG00000171490 NA NA NA NA NA 16p13.13 NA Name=TAF1,HMGN3,NFKB,Pol2-4H8,HEY1,Pol2,Ini1,TAF7_(SQ-8),POU2F2,Pol2(b),TBP,YY1,YY1_(C-20),Oct-2,c-Myc,Sin3Ak-20,NRSF Name=148 NA rs2075158 0.64 0.64 0.616 0.642772 0.6501 0.4385 0.7738 0.7632 0.59 0.66 0.41 0.75 0.78 0.6637 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 0.93178 NA NA 0.665 0.764224 NA 0.63 NA 4.0212 1258 20 57268994 57268994 G C ncRNA_intronic STX16-NPEPL1 NA NA NA intronic ENSG00000215440,ENSG00000254995 NA NA NA NA NA 20q13.32 NA Name=Pol2 NA NA rs6100166 0.42 0.42 0.394 0.396166 0.4175 0.38 0.3948 0.4062 0.3783 0.44 0.43 0.4 0.42 0.4603 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.675946 NA NA 0.434746 0.38044 NA 0.377 NA 4.0207873 1258 11 1253856 1253856 T C intronic MUC5B NA NA NA intronic ENSG00000117983 NA NA NA NA NA 11p15.5 NA Name=Pol2 NA NA rs1318321 0.51 0.51 0.508 0.545527 0.497 0.6548 0.6066 0.4849 0.5215 0.47 0.62 0.51 0.44 0.4824 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290815 NA NA NA NA NA 0.558 NA 4.0206 1258 17 27441077 27441077 C G exonic MYO18A NA synonymous SNV MYO18A:NM_078471:exon15:c.G2550C:p.P850P,MYO18A:NM_203318:exon15:c.G2550C:p.P850P exonic ENSG00000196535 NA synonymous SNV ENSG00000196535:ENST00000354329:exon14:c.G2550C:p.P850P,ENSG00000196535:ENST00000527372:exon15:c.G2550C:p.P850P,ENSG00000196535:ENST00000531253:exon15:c.G2550C:p.P850P,ENSG00000196535:ENST00000533112:exon15:c.G2550C:p.P850P NA NA 17q11.2 NA NA NA NA rs12601535 0.66 0.66 0.67 0.685304 0.5179 0.9127 0.4914 0.7398 0.6871 0.51 0.9 0.49 0.73 0.6174 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 -0.136325 NA NA 0.511347 0.711753 NA 0.739 NA 4.0200196 1258 15 99467934 99467934 A C intronic IGF1R NA NA NA intronic ENSG00000140443 NA NA NA NA NA 15q26.3 NA NA Name=32 NA rs1464430 0.4 0.4 0.407 0.402756 0.3241 0.2629 0.4164 0.674 0.2515 0.31 0.25 0.4 0.72 0.3443 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.310229 NA NA 0.312078 0.638143 NA 0.428 NA 4.019522 1258 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 1258 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 1258 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 1258 6 102376517 102376517 G A intronic GRIK2 NA NA NA intronic ENSG00000164418 NA NA NA NA NA 6q16.3 NA NA NA NA rs2243355 0.19 0.19 0.168 0.170527 0.3708 0.0595 0.2622 0.0091 0.2321 0.35 0.07 0.3 0.01 0.2764 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.40167 NA NA 0.334651 0.062415 NA 0.138 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117160.2;CLNDSDB=.;CLNDSDBID=. 4.018149 1258 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 1258 11 77051683 77051683 G C intronic PAK1 NA NA NA intronic ENSG00000149269 NA NA NA NA NA 11q13.5 NA NA Name=10 NA rs2725832 0.22 0.22 0.206 0.244209 0.3549 0.244 0.1888 0.0257 0.4652 0.34 0.22 0.22 0.03 0.2966 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.863336 NA NA 0.330499 0.085909 NA 0.203 NA 4.018001 1258 X 148055144 148055144 A G intronic AFF2 NA NA NA intronic ENSG00000155966 NA NA NA NA NA Xq28 Score=909;Name=V$AREB6_01 NA NA NA rs5980615 0.96 0.96 0.95151 NA NA NA NA NA NA 1 1 0.99 0.84 0.9829 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220232 NA NA 0.999257 0.822425 NA 0.717 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079971.4;CLNDSDB=.;CLNDSDBID=. 4.017843 1258 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 1258 2 128753854 128753854 T C intronic SAP130 NA NA NA intronic ENSG00000136715 NA NA NA NA NA 2q14.3 NA Name=MafK_(ab50322),MafK_(SC-477) NA NA rs1550174 0.95 0.95 0.932 0.939696 0.9831 1 0.9813 0.7973 0.9959 0.99 1 0.97 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 1.168065 NA NA NA NA NA 0.891 NA 4.0169 1258 13 90014942 90014942 T C intergenic LINC00433,LINC00353 dist=817178;dist=186106 NA NA ncRNA_exonic ENSG00000225530 NA NA NA Score=783;Name=lod=2019 NA 13q31.3 NA NA NA NA rs9560297 0.79 0.79 0.756 0.791733 0.9831 0.621 0.9092 0.6157 0.9254 0.98 0.6 0.9 0.6 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 -0.240421 NA NA NA NA ID=COSN164527;OCCURENCE=1(breast) 0.79 NA 4.0169 1258 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 1258 19 17628587 17628587 A G exonic PGLS NA synonymous SNV PGLS:NM_012088:exon4:c.A567G:p.T189T exonic ENSG00000130313 NA synonymous SNV ENSG00000130313:ENST00000252603:exon4:c.A567G:p.T189T,ENSG00000130313:ENST00000600923:exon5:c.A591G:p.T197T NA NA 19p13.11 NA NA NA NA rs6743 0.59 0.59 0.594 0.601038 0.5596 0.4573 0.6398 0.8169 0.4724 0.54 0.44 0.61 0.82 0.553 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 -0.797812 NA NA 0.537674 0.778711 NA 0.667 NA 4.0163926 1258 9 113169630 113169630 T C exonic SVEP1 NA synonymous SNV SVEP1:NM_153366:exon38:c.A8250G:p.A2750A exonic ENSG00000165124 NA synonymous SNV ENSG00000165124:ENST00000297826:exon3:c.A2028G:p.A676A,ENSG00000165124:ENST00000374469:exon38:c.A8181G:p.A2727A,ENSG00000165124:ENST00000401783:exon38:c.A8250G:p.A2750A NA NA 9q31.3 NA NA NA NA rs7046213 0.55 0.55 0.633 0.655351 0.5358 0.5179 0.4841 0.9281 0.6728 0.49 0.44 0.47 0.83 0.5695 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 -1.93235 NA NA 0.545378 0.868766 NA 0.167 NA 4.0159886 1258 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 1258 12 124848137 124848137 T C intronic NCOR2 NA NA NA intronic ENSG00000196498 NA NA NA NA NA 12q24.31 NA NA Name=14 NA rs1794956 0.94 0.94 0.938 0.922724 0.9841 0.9663 0.9712 0.8283 0.908 0.99 0.97 0.96 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 -0.784705 NA NA NA NA NA 0.913 NA 4.0159 1258 2 178682655 178682655 A G intronic PDE11A NA NA NA intronic ENSG00000128655 NA NA NA Score=585;Name=lod=318 NA 2q31.2 NA NA NA NA rs3821010 0.41 0.41 0.435 0.418131 0.3241 0.3056 0.2622 0.7315 0.318 0.31 0.36 0.3 0.71 0.3357 0.71 NA NA 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 0.324419 0.620345 NA 0.529 NA 4.015781 1258 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 1258 X 12722616 12722616 C G intronic FRMPD4 NA NA NA intronic ENSG00000169933 NA NA NA Score=712;Name=lod=1043 NA Xp22.2 NA NA NA NA rs4469660 0.99 0.99 NA NA NA NA NA NA NA 0.98 1 1 1 0.9928 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.674108 3.674108 NA 0.992122 0.999478 NA 0.739 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081647.1;CLNDSDB=.;CLNDSDBID=. 4.015078 1258 17 27009749 27009749 C T exonic SUPT6H NA synonymous SNV SUPT6H:NM_003170:exon14:c.C1602T:p.G534G exonic ENSG00000109111 NA synonymous SNV ENSG00000109111:ENST00000314616:exon14:c.C1602T:p.G534G,ENSG00000109111:ENST00000347486:exon15:c.C1602T:p.G534G NA NA 17q11.2 NA NA NA NA rs12051648 0.42 0.42 0.399 0.402955 0.5646 0.5962 0.4568 0.0318 0.501 0.57 0.51 0.44 0.05 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 0.355738 NA NA 0.577093 0.122333 NA 0.297 NA 4.0150736 1259 11 56128524 56128524 C T exonic OR8J1 NA synonymous SNV OR8J1:NM_001005205:exon1:c.C802T:p.L268L exonic ENSG00000172487 NA synonymous SNV ENSG00000172487:ENST00000303039:exon1:c.C802T:p.L268L NA NA 11q12.1 Score=929;Name=V$NFY_Q6 NA NA NA rs7928704 0.89 0.89 0.897 0.898363 0.8837 0.875 0.8991 0.9365 0.8855 0.87 0.87 0.91 0.92 0.8853 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.163478 NA NA 0.882798 0.936847 NA 0.899 NA 4.0148686 1259 11 119205830 119205830 A G UTR5 RNF26 NM_032015:c.-3A>G NA NA UTR5 ENSG00000173456 ENST00000311413:c.-3A>G NA NA NA NA 11q23.3 Score=939;Name=V$GATA3_01 NA NA NA rs12795576 0.32 0.32 0.305 0.292931 0.4294 0.1617 0.4597 0.2716 0.1984 0.41 0.2 0.46 0.23 0.4132 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.095872 NA NA 0.475902 0.277854 ID=COSN164066;OCCURENCE=1(breast) 0.312 NA 4.0148314 1259 3 149040024 149040024 G A intronic TM4SF18 NA NA NA ncRNA_intronic ENSG00000244468 NA NA NA NA NA 3q25.1 NA NA NA NA rs74464774 0.08 0.08 0.092 0.0617013 0.1093 0.0308 0.0663 0.0598 0.044 0.12 0.04 0.07 0.08 0.0914 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 3.219043 3.219043 NA 0.118256 0.068997 NA 0.051 NA 4.0143773 1259 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 1259 5 145643048 145643048 G A intronic RBM27 NA NA NA intronic ENSG00000091009 NA NA NA NA NA 5q32 Score=813;Name=V$BRN2_01 NA NA NA rs7729098 0.34 0.34 0.342 0.341454 0.3042 0.2113 0.4308 0.5182 0.2117 0.31 0.22 0.37 0.49 0.3442 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.399765 NA NA 0.337521 0.485332 NA 0.449 NA 4.014079 1259 12 117217141 117217141 T C exonic RNFT2 NA synonymous SNV RNFT2:NM_001109903:exon7:c.T870C:p.A290A,RNFT2:NM_032814:exon7:c.T870C:p.A290A exonic ENSG00000135119 NA synonymous SNV ENSG00000135119:ENST00000257575:exon7:c.T870C:p.A290A,ENSG00000135119:ENST00000392549:exon7:c.T870C:p.A290A,ENSG00000135119:ENST00000407967:exon7:c.T870C:p.A290A NA NA 12q24.22 Score=790;Name=V$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 1259 18 20965034 20965034 G A intronic TMEM241 NA NA NA intronic ENSG00000134490 NA NA NA Score=522;Name=lod=177 NA 18q11.2 NA NA NA NA rs62095860 0.22 0.22 0.198 0.227436 0.326 0.2312 0.2896 0.0726 0.2873 0.31 0.18 0.28 0.08 0.3117 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.072057 NA NA 0.348372 0.121425 NA 0.254 NA 4.013928 1259 5 108523293 108523293 A T UTR3 FER NM_005246:c.*17A>T NA NA UTR3 ENSG00000151422 ENST00000281092:c.*17A>T,ENST00000504143:c.*1957A>T,ENST00000438717:c.*17A>T NA NA NA NA 5q21.3 NA NA NA NA rs1133392 0.08 0.08 0.071 0.0688898 0.1183 0.0565 0.049 0.0348 0.091 0.11 0.07 0.05 0.04 0.0925 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 1.021063 NA NA 0.109186 0.049728 NA 0.101 NA 4.0133474 1259 10 50863147 50863147 T C exonic CHAT NA synonymous SNV CHAT:NM_001142929:exon12:c.T1287C:p.H429H,CHAT:NM_020549:exon12:c.T1641C:p.H547H,CHAT:NM_020984:exon12:c.T1287C:p.H429H,CHAT:NM_020986:exon12:c.T1287C:p.H429H,CHAT:NM_001142933:exon13:c.T1395C:p.H465H,CHAT:NM_001142934:exon13:c.T1287C:p.H429H,CHAT:NM_020985:exon13:c.T1287C:p.H429H exonic ENSG00000070748 NA synonymous SNV ENSG00000070748:ENST00000337653:exon12:c.T1641C:p.H547H,ENSG00000070748:ENST00000339797:exon12:c.T1287C:p.H429H,ENSG00000070748:ENST00000395559:exon12:c.T1287C:p.H429H,ENSG00000070748:ENST00000455728:exon12:c.T1287C:p.H429H,ENSG00000070748:ENST00000351556:exon13:c.T1287C:p.H429H,ENSG00000070748:ENST00000395562:exon13:c.T1395C:p.H465H NA NA 10q11.23 NA NA NA NA rs8178992 0.8 0.8 0.82 0.79353 0.8926 0.8244 0.7378 0.6846 0.8466 0.91 0.79 0.8 0.65 0.8491 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 -0.25394 NA NA 0.911744 0.699501 NA 0.79 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116692.1;CLNDSDB=.;CLNDSDBID=. 4.0132226 1259 10 102734778 102734778 C G ncRNA_exonic MIR608 NA NA NA ncRNA_exonic ENSG00000207551 NA NA NA NA NA 10q24.31 NA NA NA NA rs4919510 0.35 0.35 0.351 0.363818 0.1789 0.5248 0.2867 0.4402 0.3395 0.17 0.55 0.24 0.46 0.2708 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.38899 NA NA 0.203797 0.397003 NA 0.333 NA 4.0131696 1259 12 57569513 57569513 G A intronic LRP1 NA NA NA intronic ENSG00000123384 NA NA NA NA NA 12q13.3 NA NA Name=133 NA rs1800180 0.4 0.4 0.377 0.384185 0.3131 0.4325 0.4409 0.5008 0.2096 0.32 0.4 0.41 0.51 0.3614 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.746402 NA NA 0.312442 0.460281 NA 0.312 NA 4.013058 1259 16 55362542 55362542 C G intronic IRX6 NA NA NA ncRNA_intronic ENSG00000259283 NA NA NA NA NA 16q12.2 NA NA NA NA rs31086 0.31 0.31 0.273 0.307308 0.3211 0.3681 0.3314 0.1899 0.3722 0.32 0.37 0.3 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 -0.646361 NA NA NA NA NA 0.326 NA 4.0122333 1259 12 57589865 57589865 C T intronic LRP1 NA NA NA intronic ENSG00000123384 NA NA NA NA NA 12q13.3 NA Name=CTCF Name=6 NA rs1800189 0.52 0.52 0.481 0.504393 0.6859 0.501 0.5303 0.1483 0.7843 0.68 0.56 0.57 0.2 0.616 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 -1.79268 NA NA 0.686628 0.246936 NA 0.58 NA 4.011472 1259 16 4524060 4524060 C A intronic NMRAL1 NA NA NA intronic ENSG00000153406 NA NA NA NA NA 16p13.3 NA Name=ZBTB7A_(SC-34508) Name=7 NA rs3761680 0.55 0.55 0.537 0.475439 0.667 0.627 0.5735 0.1513 0.4908 0.68 0.67 0.6 0.17 0.631 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 -0.229564 NA NA 0.69093 0.251479 NA 0.449 NA 4.01107 1259 21 42622657 42622657 G C intronic BACE2 NA NA NA intronic ENSG00000182240 NA NA NA NA NA 21q22.3 NA Name=c-Jun,GATA-2,Pol2(b) Name=70 NA rs960231 0.78 0.78 0.768 0.806909 0.6243 0.9226 0.83 0.848 0.8037 0.61 0.91 0.8 0.86 0.7155 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 0.710995 NA NA 0.650581 0.828416 NA 0.841 NA 4.009619 1259 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 1259 16 8952248 8952248 A G exonic CARHSP1 NA synonymous SNV CARHSP1:NM_001042476:exon3:c.T240C:p.T80T,CARHSP1:NM_014316:exon3:c.T240C:p.T80T exonic ENSG00000153048 NA nonsynonymous SNV ENSG00000153048:ENST00000568968:exon3:c.T266C:p.L89P Score=514;Name=lod=164 NA 16p13.2 NA NA NA NA rs988065 0.98 0.98 0.975 0.96885 1 1 0.9885 0.888 1 1 1 0.99 0.92 0.991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.264535 1.264535 NA 0.999535 0.910332 NA 0.949 NA 4.009465 1259 6 32410987 32410987 A G exonic HLA-DRA NA synonymous SNV HLA-DRA:NM_019111:exon3:c.A354G:p.T118T exonic ENSG00000204287 NA synonymous SNV ENSG00000204287:ENST00000395388:exon3:c.A354G:p.T118T NA NA 6p21.32 NA Name=Pol2,Pol2-4H8 NA NA rs3135391 0.93 0.93 0.939 0.953674 0.8797 0.994 0.9481 0.9607 0.9826 0.87 0.99 0.94 0.96 0.9133 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 0.248817 NA NA 0.864341 0.939113 NA 0.928 NA 4.0093256 1259 11 64535357 64535357 T C intronic SF1 NA NA NA intronic ENSG00000168066 NA NA NA Score=420;Name=lod=68 NA 11q13.1 NA Name=CTCFL_(SC-98982),SMC3_(ab9263),Rad21,CTCF_(SC-5916),Znf143_(16618-1-AP),CTCF_(C-20),CTCF Name=131 NA rs575375 0.97 0.97 0.97 0.96865 1 1 0.9928 0.885 1 1 1 0.99 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 1.152956 NA NA 0.999418 0.911364 NA 0.986 NA 4.009282 1259 17 39680796 39680796 T A intronic KRT19 NA NA NA intronic ENSG00000171345 NA NA NA Score=391;Name=lod=52 NA 17q21.2 NA Name=GATA3_(SC-268) Name=6 NA rs1869720 0.97 0.97 0.969 0.967053 1 1 0.9942 0.8782 1 1 1 0.99 0.89 0.9909 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.522747 NA NA 1 0.908761 NA 0.957 NA 4.0091 1259 10 135085321 135085321 C T exonic ADAM8 NA synonymous SNV ADAM8:NM_001164490:exon10:c.G978A:p.A326A,ADAM8:NM_001109:exon11:c.G1095A:p.A365A,ADAM8:NM_001164489:exon11:c.G1095A:p.A365A exonic ENSG00000151651 NA synonymous SNV ENSG00000151651:ENST00000485491:exon10:c.G978A:p.A326A,ENSG00000151651:ENST00000415217:exon11:c.G1095A:p.A365A,ENSG00000151651:ENST00000445355:exon11:c.G1095A:p.A365A NA NA 10q26.3 NA NA Name=2 NA rs1131720 0.85 0.85 0.84 0.846645 0.8946 0.9167 0.8242 0.7489 0.8732 0.88 0.89 0.83 0.77 0.8761 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 -0.690368 NA NA 0.887401 0.772624 NA 0.819 NA 4.0085656 1259 9 140357848 140357848 G C intronic PNPLA7 NA NA NA intronic ENSG00000130653 NA NA NA NA NA 9q34.3 NA Name=SP1 NA NA rs2275781 0.37 0.37 0.334 0.361222 0.325 0.6121 0.3127 0.2572 0.3149 0.33 0.6 0.31 0.21 0.3743 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568547 NA NA 0.292268 0.270985 NA 0.304 NA 4.008432 1259 6 30166886 30166886 C T UTR5 TRIM26 NM_001242783:c.-6G>A,NM_003449:c.-6G>A NA NA UTR5 ENSG00000234127 ENST00000453195:c.-6G>A,ENST00000454678:c.-6G>A,ENST00000437089:c.-6G>A,ENST00000416596:c.-6G>A,ENST00000418026:c.-6G>A,ENST00000434785:c.-6G>A NA NA NA NA 6p22.1 NA NA NA NA rs2523720 0.07 0.07 0.071 0.0617013 0.1074 0.001 0.0461 0.1157 0.0153 0.11 NA 0.06 0.1 0.0899 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.239318 2.239318 NA 0.127632 0.099007 NA 0.13 NA 4.0084014 1259 11 617537 617537 C T exonic CDHR5 NA synonymous SNV CDHR5:NM_031264:exon14:c.G1770A:p.P590P,CDHR5:NM_001171968:exon15:c.G2334A:p.P778P,CDHR5:NM_021924:exon15:c.G2352A:p.P784P exonic ENSG00000099834 NA synonymous SNV ENSG00000099834:ENST00000349570:exon14:c.G1770A:p.P590P,ENSG00000099834:ENST00000397542:exon15:c.G2352A:p.P784P,ENSG00000099834:ENST00000358353:exon16:c.G2352A:p.P784P NA NA 11p15.5 NA NA NA NA rs2740380 0.5 0.5 0.527 0.484824 0.5596 0.7044 0.4625 0.1876 0.5992 0.56 0.72 0.47 0.18 0.5555 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080898 NA NA 0.543874 0.255368 NA 0.5 NA 4.0076926 1259 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 1259 2 201485572 201485572 A G intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA NA Name=2 NA rs4672865 0.31 0.31 0.272 0.280152 0.3429 0.3938 0.3343 0.1641 0.2168 0.34 0.4 0.34 0.14 0.3242 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.461625 NA NA 0.325581 0.163414 NA 0.275 NA 4.007319 1259 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 1259 3 178785549 178785549 G A UTR5 ZMAT3 NM_022470:c.-9C>T,NM_152240:c.-9C>T NA NA UTR5 ENSG00000172667 ENST00000311417:c.-9C>T,ENST00000432729:c.-9C>T,ENST00000414084:c.-9C>T NA NA Score=468;Name=lod=106 NA 3q26.32 NA NA Name=7 NA rs6772028 0.85 0.85 0.866 0.874601 0.7654 0.9405 0.8386 0.9652 0.8221 0.75 0.94 0.8 0.95 0.8085 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 1.139104 NA NA 0.752558 0.932365 NA 0.87 NA 4.0068754 1259 7 112724525 112724525 A G exonic GPR85 NA synonymous SNV GPR85:NM_001146266:exon2:c.T252C:p.G84G,GPR85:NM_001146265:exon3:c.T252C:p.G84G,GPR85:NM_001146267:exon3:c.T252C:p.G84G,GPR85:NM_018970:exon3:c.T252C:p.G84G exonic ENSG00000164604 NA synonymous SNV ENSG00000164604:ENST00000449591:exon2:c.T252C:p.G84G,ENSG00000164604:ENST00000449735:exon2:c.T252C:p.G84G,ENSG00000164604:ENST00000297146:exon3:c.T252C:p.G84G,ENSG00000164604:ENST00000424100:exon3:c.T252C:p.G84G,ENSG00000164604:ENST00000501255:exon3:c.T252C:p.G84G Score=812;Name=lod=2662 NA 7q31.1 NA NA NA NA rs1608890 0.92 0.92 0.924 0.898363 0.8847 0.9732 0.928 0.8843 0.8333 0.89 0.98 0.93 0.9 0.8877 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 -0.174229 NA NA 0.888372 0.88788 NA 0.884 NA 4.0058946 1259 12 57579727 57579727 A T intronic LRP1 NA NA NA intronic ENSG00000123384 NA NA NA NA NA 12q13.3 NA Name=Egr-1 NA NA rs1800182 0.41 0.41 0.394 0.390775 0.3161 0.4444 0.4496 0.5091 0.2106 0.32 0.42 0.41 0.52 0.3602 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.151821 NA NA 0.318023 0.466636 NA 0.319 NA 4.005677 1260 14 23242828 23242828 T C exonic SLC7A7 NA synonymous SNV SLC7A7:NM_001126105:exon11:c.A1527G:p.K509K,SLC7A7:NM_001126106:exon11:c.A1527G:p.K509K exonic ENSG00000155465 NA synonymous SNV ENSG00000155465:ENST00000554517:exon9:c.A729G:p.K243K,ENSG00000155465:ENST00000397529:exon10:c.A1527G:p.K509K,ENSG00000155465:ENST00000397532:exon10:c.A1527G:p.K509K,ENSG00000155465:ENST00000285850:exon11:c.A1527G:p.K509K,ENSG00000155465:ENST00000397528:exon11:c.A1527G:p.K509K,ENSG00000155465:ENST00000555702:exon11:c.A1527G:p.K509K Score=340;Name=lod=32 NA 14q11.2 NA NA NA NA rs1061040 0.8 0.8 0.756 0.785543 0.8976 0.9296 0.902 0.4486 0.8947 0.89 0.9 0.89 0.46 0.8651 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 0.463772 NA NA 0.899535 0.514753 NA 0.754 NA 4.0044316 1260 21 43239972 43239972 A G exonic PRDM15 NA synonymous SNV PRDM15:NM_001040424:exon18:c.T2337C:p.N779N,PRDM15:NM_022115:exon25:c.T3324C:p.N1108N exonic ENSG00000141956 NA synonymous SNV ENSG00000141956:ENST00000447207:exon17:c.T2226C:p.N742N,ENSG00000141956:ENST00000398548:exon18:c.T2337C:p.N779N,ENSG00000141956:ENST00000447016:exon18:c.T2226C:p.N742N,ENSG00000141956:ENST00000422911:exon19:c.T2397C:p.N799N,ENSG00000141956:ENST00000538201:exon19:c.T2286C:p.N762N,ENSG00000141956:ENST00000269844:exon25:c.T3324C:p.N1108N,ENSG00000141956:ENST00000433067:exon25:c.T3324C:p.N1108N Score=617;Name=lod=430 NA 21q22.3 NA NA NA NA rs28477638 0.84 0.84 0.831 0.842851 0.8907 0.7103 0.8602 0.9138 0.8221 0.91 0.69 0.86 0.9 0.8741 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 0.135071 NA NA 0.897442 0.917158 NA 0.732 NA 4.0044246 1260 16 81151122 81151122 A C exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN Score=429;Name=lod=74 NA 16q23.2 Score=787;Name=V$HTF_01 NA NA NA rs4889238 0.98 0.98 0.98 0.985423 1 1 0.9971 0.9463 1 1 1 1 0.94 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45488 NA 0.41 1 0.957463 NA 0.978 NA 4.0044 1260 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 1260 2 132384682 132384682 T C intergenic RNU6-81P,C2orf27A dist=24214;dist=95382 NA NA ncRNA_exonic ENSG00000204434 NA NA NA Score=884;Name=lod=5216 NA 2q21.1 NA NA NA NA rs12692060 0.91 0.91 0.975 0.979233 0.996 1 0.9957 0.9274 0.999 0.91 0.93 0.94 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 -0.013219 NA NA NA NA NA NA NA 4.004 1260 2 239051550 239051550 T C exonic KLHL30 NA synonymous SNV KLHL30:NM_198582:exon3:c.T885C:p.F295F exonic ENSG00000168427 NA synonymous SNV ENSG00000168427:ENST00000305959:exon3:c.T831C:p.F277F,ENSG00000168427:ENST00000409223:exon3:c.T885C:p.F295F Score=496;Name=lod=138 NA 2q37.3 NA NA NA NA rs935411 0.91 0.91 0.903 0.933706 0.8648 0.9335 0.8948 0.9841 0.9642 0.86 0.92 0.9 0.99 0.9087 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 -0.224216 NA NA 0.889513 0.972479 ID=COSM442580,COSM442581;OCCURENCE=2(breast) 0.942 NA 4.0036536 1260 16 81161578 81161578 G A exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN NA NA 16q23.2 NA NA NA NA rs7206183 0.42 0.42 0.395 0.396166 0.336 0.5417 0.3285 0.4123 0.3344 0.35 0.56 0.36 0.42 0.3524 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.305485 NA NA 0.308311 0.358115 NA 0.348 NA 4.003289 1260 10 71868763 71868763 G A intronic H2AFY2 NA NA NA intronic ENSG00000042286,ENSG00000099284 NA NA NA NA NA 10q22.1 Score=775;Name=V$MEF2_01 Name=GATA-2 NA NA rs2271698 0.47 0.47 0.443 0.419728 0.6988 0.3681 0.4971 0.1415 0.5072 0.72 0.37 0.53 0.15 0.5932 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.675067 NA NA 0.704767 0.230595 NA 0.507 NA 4.003233 1260 19 46338492 46338492 G A intronic SYMPK NA NA NA intronic ENSG00000125755 NA NA NA NA NA 19q13.32 NA NA Name=5 NA rs7256192 0.29 0.29 0.27 0.290735 0.3191 0.2917 0.2305 0.3086 0.2791 0.32 0.24 0.27 0.29 0.3168 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.827547 1.827547 NA 0.36093 0.294598 NA 0.355 NA 4.00317 1260 17 30659006 30659006 T A intronic C17orf75 NA NA NA ncRNA_intronic ENSG00000265794 NA NA NA Score=648;Name=lod=575 NA 17q11.2 Score=882;Name=V$PAX4_02 NA NA NA rs1019152 0.8 0.8 0.807 0.821286 0.7823 0.6865 0.7464 0.9871 0.8292 0.8 0.67 0.75 0.98 0.7837 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 0.910072 NA NA 0.764482 0.943553 NA 0.812 NA 4.0028513 1260 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 1260 11 20099112 20099112 A T exonic NAV2 NA synonymous SNV NAV2:NM_001111019:exon13:c.A2190T:p.A730A,NAV2:NM_001111018:exon23:c.A4806T:p.A1602A,NAV2:NM_145117:exon23:c.A4998T:p.A1666A,NAV2:NM_182964:exon23:c.A4998T:p.A1666A,NAV2:NM_001244963:exon25:c.A5166T:p.A1722A exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000525322:exon11:c.A2145T:p.A715A,ENSG00000166833:ENST00000311043:exon12:c.A2190T:p.A730A,ENSG00000166833:ENST00000533917:exon13:c.A2190T:p.A730A,ENSG00000166833:ENST00000349880:exon23:c.A4998T:p.A1666A,ENSG00000166833:ENST00000360655:exon23:c.A4806T:p.A1602A,ENSG00000166833:ENST00000396085:exon23:c.A4998T:p.A1666A,ENSG00000166833:ENST00000396087:exon25:c.A5166T:p.A1722A,ENSG00000166833:ENST00000527559:exon26:c.A4953T:p.A1651A,ENSG00000166833:ENST00000540292:exon26:c.A4959T:p.A1653A Score=599;Name=lod=364 NA 11p15.1 NA NA NA NA rs4757028 0.9 0.9 0.896 0.908546 0.8917 0.9514 0.8977 0.8782 0.9305 0.89 0.95 0.88 0.88 0.8957 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 1.665636 1.665636 NA 0.876977 0.869042 NA 0.935 NA 4.0022896 1260 19 55441995 55441995 A G exonic NLRP7 NA synonymous SNV NLRP7:NM_001127255:exon9:c.T2682C:p.Y894Y,NLRP7:NM_139176:exon9:c.T2598C:p.Y866Y,NLRP7:NM_206828:exon9:c.T2682C:p.Y894Y exonic ENSG00000167634 NA synonymous SNV ENSG00000167634:ENST00000328092:exon8:c.T2598C:p.Y866Y,ENSG00000167634:ENST00000590030:exon8:c.T2682C:p.Y894Y,ENSG00000167634:ENST00000340844:exon9:c.T2682C:p.Y894Y,ENSG00000167634:ENST00000448121:exon9:c.T2598C:p.Y866Y,ENSG00000167634:ENST00000586379:exon9:c.T2682C:p.Y894Y,ENSG00000167634:ENST00000592784:exon9:c.T2682C:p.Y894Y,ENSG00000167634:ENST00000446217:exon11:c.T2766C:p.Y922Y,ENSG00000167634:ENST00000588756:exon11:c.T2682C:p.Y894Y NA NA 19q13.42 NA NA NA NA rs269951 0.58 0.58 0.548 0.590455 0.5278 0.6994 0.6124 0.5393 0.5961 0.52 0.73 0.57 0.49 0.5815 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 -0.554677 NA NA 0.555233 0.522469 NA 0.587 NA 4.0021336 1260 3 47376095 47376095 A G intronic KLHL18 NA NA NA intronic ENSG00000114648 NA NA NA NA NA 3p21.31 NA Name=STAT1 NA NA rs295450 0.96 0.96 0.953 0.954273 0.998 1 0.9813 0.8381 1 1 1 0.98 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 0.648156 NA NA NA NA NA 0.928 NA 4.002 1260 15 55921013 55921013 T C intronic PRTG NA NA NA intronic ENSG00000166450 NA NA NA Score=513;Name=lod=162 NA 15q21.3 NA NA NA NA rs7165971 0.43 0.43 0.393 0.432109 0.3131 0.9554 0.3746 0.0257 0.6053 0.31 0.97 0.4 0.03 0.3835 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 2.112867 2.112867 NA 0.302053 0.081616 NA 0.246 NA 4.001347 1260 2 132384683 132384683 T G intergenic RNU6-81P,C2orf27A dist=24215;dist=95381 NA NA ncRNA_exonic ENSG00000204434 NA NA NA Score=884;Name=lod=5216 NA 2q21.1 NA NA NA NA rs12692061 0.9 0.9 0.978 0.980032 0.999 1 0.9957 0.9274 1 0.9 0.93 0.93 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 -0.030409 NA NA NA NA NA NA NA 4.001 1260 12 53877562 53877562 C T intronic MAP3K12 NA NA NA intronic ENSG00000139625 NA NA NA NA NA 12q13.13 NA Name=Pol2(b),ZNF263,Pol2,Pol2-4H8 NA NA rs784565 0.93 0.93 0.912 0.91893 0.999 1 0.9784 0.705 1 1 1 0.98 0.7 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 0.424421 NA NA NA NA NA 0.891 NA 4.001 1260 17 26684394 26684394 T G exonic POLDIP2 NA unknown UNKNOWN splicing ENSG00000004142 ENST00000540200:exon2:c.78+2A>C,ENST00000540200:exon3:c.79-1A>C NA NA NA NA 17q11.2 NA Name=Pol2(b),ZBTB7A_(SC-34508),Pol2-4H8,HEY1,GATA-1,Pol2,Pol2(phosphoS2),HA-E2F1 NA NA rs17856014 NA NA NA 0.998602 0.999 0.999 0.9957 0.9992 0.999 NA NA NA NA 1 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.093123 NA NA NA NA NA 0.391 NA 4.001 1260 19 2917186 2917186 T C exonic ZNF57 NA synonymous SNV ZNF57:NM_173480:exon4:c.T567C:p.T189T exonic ENSG00000171970 NA synonymous SNV ENSG00000171970:ENST00000306908:exon4:c.T567C:p.T189T,ENSG00000171970:ENST00000523428:exon4:c.T471C:p.T157T NA NA 19p13.3 NA Name=ZNF274 NA NA rs2288959 0.82 0.82 0.805 0.813698 0.8996 0.7063 0.8775 0.7602 0.863 0.9 0.74 0.89 0.74 0.8691 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 -0.322882 NA NA 0.896977 0.777122 NA 0.841 NA 4.0009896 1260 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 1260 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 1260 19 18305578 18305578 G C intronic MPV17L2 NA NA NA intronic ENSG00000254858 NA NA NA NA NA 19p13.11 NA Name=Egr-1,IRF1,STAT3 Name=84 NA rs16982263 0.52 0.52 0.514 0.465056 0.7038 0.1577 0.5634 0.5461 0.3569 0.74 0.15 0.6 0.55 0.6059 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.817606 NA NA 0.689742 0.577744 NA 0.507 NA 4.000558 1260 17 3631473 3631473 C G intronic ITGAE NA NA NA intronic ENSG00000083457 NA NA NA Score=336;Name=lod=31 NA 17p13.2 NA NA NA NA rs7219600 0.34 0.34 0.374 0.352037 0.3469 0.0486 0.2795 0.7277 0.2137 0.34 0.04 0.29 0.73 0.3119 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 -0.07152 NA NA 0.340698 0.644349 NA 0.319 NA 4.000502 1260 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 1260 3 37163039 37163039 G A intronic LRRFIP2 NA NA NA intronic ENSG00000093167 NA NA NA Score=445;Name=lod=86 NA 3p22.2 Score=902;Name=V$FOXJ2_01 NA Name=2 NA rs336595 1 1 1 0.998003 1 1 0.9986 0.9932 1 1 1 1 1 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.037613 4.037613 NA 1 0.996823 NA 0.993 NA 4.0003 1260 7 100552020 100552020 C T intergenic ACHE,MUC12 dist=58479;dist=60884 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000319509:exon1:c.C771T:p.S257S NA NA 7q22.1 NA NA NA NA rs78680358 NA NA NA 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 -0.665528 NA NA NA NA NA NA NA 4.0003 1260 10 86185654 86185654 T G intronic CCSER2 NA NA NA intronic ENSG00000107771 NA NA NA Score=435;Name=lod=78 NA 10q23.1 NA NA Name=7 NA rs1336202 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.179168 NA NA NA NA NA 1 NA 4.0003 1260 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 1260 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 1260 19 11221454 11221454 T C intronic LDLR NA NA NA intronic ENSG00000130164 NA NA NA NA NA 19p13.2 NA Name=Pol2(b),Pol2,Pol2-4H8 Name=3 NA rs2738442 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 0.651988 NA NA NA NA NA 1 NA 4.0001 1260 1 201844128 201844128 G A intronic IPO9 NA NA NA intronic ENSG00000198700 NA NA NA NA NA 1q32.1 NA Name=ZNF263 NA NA rs2678203 0.98 0.98 0.98 0.970847 1 1 0.9957 0.8918 1 1 1 1 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 0.266281 NA NA NA NA NA 0.949 NA 4 1260 1 227171739 227171739 G C intronic ADCK3 NA NA NA intronic ENSG00000163050 NA NA NA NA NA 1q42.13 NA NA NA NA rs1574185 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 -1.019316 NA NA NA NA NA 0.174 NA 4 1260 5 131719999 131719999 A G intronic SLC22A5 NA NA NA intronic ENSG00000197375 NA NA NA Score=563;Name=lod=260 NA 5q31.1 NA NA NA NA rs4551059 1 1 1 1 1 1 1 1 1 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 2.07189 2.07189 NA NA NA NA 1 CLINSIG=untested|non-pathogenic|non-pathogenic;CLNDBN=Renal_carnitine_transport_defect|not_specified|not_provided;CLNREVSTAT=not|single|single;CLNACC=RCV000022335.2|RCV000080057.1|RCV000128067.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.|.;CLNDSDBID=NBK84551:C0342788:212140:ORPHA158:21764004|.|. 4 1260 5 141016276 141016276 T C intronic HDAC3 NA NA NA intronic ENSG00000171720 NA NA NA NA NA 5q31.3 NA Name=ETS1,HEY1,Pol2-4H8,Pol2(phosphoS2),Pol2,HA-E2F1,CCNT2,AP-2gamma Name=27 NA rs32954 1 1 1 1 1 1 1 1 1 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 0.467066 NA NA NA NA NA 0.993 NA 4 1260 6 33147589 33147589 T G intronic COL11A2 NA NA NA intronic ENSG00000204248 NA NA NA Score=533;Name=lod=195 NA 6p21.32 NA NA NA NA rs3129201 1 1 1 1 1 1 1 1 1 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 1.630175 1.630175 NA NA NA NA 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039825.1;CLNDSDB=.;CLNDSDBID=. 4 1260 7 75621827 75621827 A G exonic TMEM120A NA unknown UNKNOWN exonic ENSG00000189077 NA unknown UNKNOWN Score=497;Name=lod=139 NA 7q11.23 NA NA NA NA rs4732519 1 1 1 1 1 1 1 1 1 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 0.711625 NA NA NA NA NA 1 NA 4 1260 7 80378148 80378148 T C intronic SEMA3C NA NA NA intronic ENSG00000075223 NA NA NA NA NA 7q21.11 NA NA Name=4 NA rs1405743 0.95 0.95 0.92 0.940296 1 1 0.9928 0.7776 1 1 1 1 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 0.22082 NA NA NA NA NA 0.92 NA 4 1260 7 99693337 99693337 T C intronic MCM7 NA NA NA intronic ENSG00000166508 NA NA NA NA NA 7q22.1 NA NA Name=5 NA rs7799115 1 1 0.994 0.995607 1 1 1 0.9834 1 1 1 1 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 -0.110283 NA NA NA NA NA 0.993 NA 4 1260 9 129831659 129831659 T A intronic RALGPS1 NA NA NA intronic ENSG00000136828 NA NA NA NA NA 9q33.3 NA NA NA NA rs1281158 1 1 0.999 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . . . 1.000 P . . . . -1.012 T 0.000 T 0.058 3.388 17.43 -7.46 -1.329 -0.706 0.496 3.387708 3.387708 0 1 0.999092 NA 1 NA 4 1260 10 79590685 79590685 C T intronic DLG5 NA NA NA intronic ENSG00000151208 NA NA NA NA NA 10q22.3 NA NA NA NA rs10824579 0.34 0.34 0.344 NA NA NA NA NA NA 0.35 0.47 0.31 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 -0.128392 NA NA NA NA NA 0.29 NA 4 1260 11 117306291 117306291 G T intronic DSCAML1 NA NA NA intronic ENSG00000177103 NA NA NA NA NA 11q23.3 NA NA Name=7 NA rs661789 0.99 0.99 0.996 0.992612 1 0.9802 0.9755 1 1 1 0.97 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 -0.142408 NA NA NA NA NA 0.993 NA 4 1260 11 129320957 129320957 G A intronic BARX2 NA NA NA intronic ENSG00000043039 NA NA NA NA NA 11q24.3 NA NA NA NA rs199970012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41974 NA NA NA NA NA NA NA 4 1260 14 22167296 22167296 G C intergenic OR4E2,DAD1 dist=33058;dist=866511 NA NA ncRNA_exonic ENSG00000256350 NA NA NA Score=488;Name=lod=128 NA 14q11.2 NA NA NA NA rs6572018 1 1 1 1 1 1 1 1 1 1 1 1 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 0.04335 NA NA NA NA NA 0.993 NA 4 1260 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 1260 21 42775555 42775555 A G intronic MX2 NA NA NA intronic ENSG00000183486 NA NA NA NA NA 21q22.3 NA NA NA NA rs462161 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0 D . . . . . . 1.000 P . . . . -1.053 T 0.000 T . 2.592 14.63 1.7 0.315 0.532 4.276 2.592447 2.592447 NA NA NA NA 1 NA 4 1260 X 2748292 2748292 C G intronic GYG2 NA NA NA intronic ENSG00000056998 NA NA NA NA NA Xp22.33 NA NA NA NA rs6641656 0.67 0.67 0.68521 NA NA NA NA NA NA 0.78 0.82 0.69 0.33 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 -0.874606 NA NA NA NA NA 0.486 NA 4 1260 X 74546623 74546623 G A intergenic UPRT,ZDHHC15 dist=21891;dist=41639 NA NA ncRNA_exonic ENSG00000232186 NA NA NA NA NA Xq13.3 NA NA NA NA rs7059610 0.85 0.85 0.82989 NA NA NA NA NA NA 0.97 0.98 0.95 0.45 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 -1.132601 NA NA NA NA NA 0.529 NA 4 1260 19 6697829 6697829 G C intronic C3 NA NA NA intronic ENSG00000125730 NA NA NA NA NA 19p13.3 NA NA NA NA rs366510 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001831 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.246499 NA NA NA NA NA NA NA 3.9999817 1260 22 21350211 21350211 G A intronic LZTR1 NA NA NA intronic ENSG00000099949 NA NA NA NA NA 22q11.21 NA NA NA NA rs374271940 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003328 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 -0.573495 NA NA 0 0.000227 NA NA NA 3.9999667 1260 22 37331498 37331498 T C intronic CSF2RB NA NA NA intronic ENSG00000100368 NA NA NA NA NA 22q12.3 NA NA NA NA rs371198021 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00007471 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 2.831394 2.831394 NA 0 0.000227 NA NA NA 3.9999253 1260 1 103461539 103461539 C T intronic COL11A1 NA NA NA intronic ENSG00000060718 NA NA NA NA NA 1p21.1 NA NA NA NA rs372529718 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 -0.97742 NA NA 0 0.000227 NA NA NA 3.9999 1260 22 40069134 40069134 G T intronic CACNA1I NA NA NA intronic ENSG00000100346 NA NA NA NA NA 22q13.1 NA NA NA NA rs371111103 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008756 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 0.476821 NA NA 0.000121 0 NA NA NA 3.9998702 1260 15 89430388 89430388 G A intronic HAPLN3 NA NA NA intronic ENSG00000140511 NA NA NA NA NA 15q26.1 NA NA NA NA rs373382303 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001648 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 0.286143 NA NA 0.000116 0.000227 NA NA NA 3.9998675 1260 11 67286679 67286679 C T intronic CABP2 NA NA NA intronic ENSG00000167791 NA NA NA NA NA 11q13.2 NA NA NA NA rs185575973 0.0009 0.0009 NA 0.000599042 NA NA NA 0.0023 NA NA NA NA 0.0041 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 0.302973 NA NA 0 0.002727 NA 0.007 NA 3.9998 1260 3 111639288 111639288 A G intronic PHLDB2 NA NA NA intronic ENSG00000144824 NA NA NA NA NA 3q13.2 NA NA NA NA rs201162455 NA NA NA 0.000199681 NA 0.001 NA NA NA NA NA NA NA 0.00008444 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 0.721341 NA NA 0.000116 0 NA NA NA 3.9997996 1260 2 217542984 217542984 C T intronic IGFBP5 NA NA NA intronic ENSG00000115461 NA NA NA NA NA 2q35 NA NA NA NA rs377125272 NA NA NA 0.000798722 NA NA NA 0.0023 0.001 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 0.257955 NA NA 0.000116 0 NA NA NA 3.999684 1260 14 24910974 24910974 T A exonic SDR39U1 NA synonymous SNV SDR39U1:NM_020195:exon4:c.A234T:p.V78V exonic ENSG00000100445 NA synonymous SNV ENSG00000100445:ENST00000399395:exon4:c.A234T:p.V78V Score=537;Name=lod=203 NA 14q12 NA NA NA NA rs11625820 0.67 0.67 0.754 0.765176 0.9046 0.8383 0.8516 0.4667 0.8885 0.76 0.73 0.76 0.39 0.8594 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 1.196874 NA NA 0.903033 0.521047 NA NA NA 3.9996336 1260 5 161569328 161569328 A G intronic GABRG2 NA NA NA intronic ENSG00000113327 NA NA NA NA NA 5q34 NA NA NA NA rs375294947 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 -0.870859 NA NA 0.000233 0.000227 NA NA NA 3.999567 1260 20 30737584 30737584 C T intronic TM9SF4 NA NA NA intronic ENSG00000101337 NA NA NA NA NA 20q11.21 NA NA NA NA rs199745389 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 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 -0.966258 NA NA 0.000349 0.000227 NA NA NA 3.999551 1260 2 198268501 198268501 G A intronic SF3B1 NA NA NA intronic ENSG00000115524 NA NA NA NA NA 2q33.1 NA NA NA NA rs370861771 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 0.295641 NA NA 0.000465 0 NA NA NA 3.999435 1260 X 24597618 24597618 A G intronic PCYT1B NA NA NA intronic ENSG00000102230 NA NA NA NA NA Xp22.11 NA NA NA NA rs368467392 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00007022 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 0.055238 NA NA 0.000595 0 NA NA NA 3.9993348 1260 17 76447761 76447761 G A intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA NA NA rs181747580 0.0005 0.0005 NA 0.000998403 NA NA 0.0014 0.0008 0.0031 NA NA 0.0028 NA 0.0005 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 -0.428582 NA NA 0.000233 0.000681 NA NA NA 3.999267 1260 11 102567572 102567572 T C intronic MMP27 NA NA NA intronic ENSG00000137675 NA NA NA NA NA 11q22.2 NA NA NA NA rs374951001 NA NA NA 0.000399361 NA NA NA NA 0.002 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 -0.447439 NA NA 0.000582 0 NA NA NA 3.999118 1260 18 9533265 9533265 G T intronic RALBP1 NA NA NA intronic ENSG00000017797 NA NA NA NA NA 18p11.22 NA NA NA NA rs9963842 0.02 0.02 0.021 0.0171725 0.001 NA 0.0058 0.0605 0.001 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 1.587232 1.587232 NA NA NA NA 0.022 NA 3.999 1260 19 50512437 50512437 A G intronic VRK3 NA NA NA intronic ENSG00000105053 NA NA NA NA NA 19q13.33 NA NA NA NA rs145194678 0.0009 0.0009 0.001 0.000399361 0.001 NA 0.0014 NA NA 0.0013 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 -0.370417 NA NA NA NA NA NA NA 3.999 1260 X 69243116 69243116 G T intronic EDA NA NA NA intronic ENSG00000158813 NA NA NA NA NA Xq13.1 NA NA NA NA rs371615034 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 -0.708304 NA NA 0.000596 0 NA NA NA 3.998804 1260 18 30672910 30672910 T C intronic CCDC178 NA NA NA intronic ENSG00000166960 NA NA NA NA NA 18q12.1 NA NA NA NA rs201428868 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 -0.645575 NA NA 0.000715 0 NA NA NA 3.998685 1260 1 75218142 75218142 A G intronic TYW3 NA NA NA intronic ENSG00000162623 NA NA NA NA NA 1p31.1 NA NA NA NA rs376205158 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0006 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 0.332877 NA NA 0.000931 0 NA NA NA 3.998469 1260 14 101198374 101198374 C T intronic DLK1 NA NA NA intronic ENSG00000185559 NA NA NA NA NA 14q32.2 NA NA NA NA rs199974171 0.0009 0.0009 NA 0.000599042 NA NA 0.0043 NA NA NA NA 0.01 NA 0.0005 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 0.200521 NA NA 0.001047 0.000227 NA NA NA 3.998453 1260 6 127768762 127768762 G A exonic KIAA0408 NA synonymous SNV KIAA0408:NM_014702:exon5:c.C702T:p.N234N exonic ENSG00000189367 NA synonymous SNV ENSG00000189367:ENST00000483725:exon5:c.C702T:p.N234N,ENSG00000189367:ENST00000487331:exon6:c.C738T:p.N246N NA NA 6q22.33 NA NA NA NA rs6902288 0.41 0.41 0.397 0.413538 0.5606 0.0655 0.415 0.5787 0.3967 0.57 0.07 0.43 0.53 0.5129 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.832112 NA NA 0.594767 0.578302 NA 0.514 NA 3.9983996 1260 10 3181265 3181265 G A intronic PITRM1 NA NA NA intronic ENSG00000107959 NA NA NA NA NA 10p15.2 NA NA NA NA rs184350865 0.0032 0.0032 NA 0.00199681 NA NA 0.0014 0.0068 NA NA NA 0.0028 0.01 0.0013 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 -0.468957 NA NA 0.000367 0.013844 NA NA NA 3.998333 1260 5 176518665 176518665 G A intronic FGFR4 NA NA NA intronic ENSG00000160867 NA NA NA NA NA 5q35.2 NA NA NA NA rs45581232 0.0046 0.0046 0.005 0.00638978 NA NA NA 0.0242 NA NA NA NA 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 0.713075 NA NA 0 0.017703 NA 0.007 NA 3.9983 1260 20 62163862 62163862 C T intronic PTK6 NA NA NA intronic ENSG00000101213 NA NA NA NA NA 20q13.33 NA NA NA NA rs375193401 NA NA NA NA NA 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 -0.214812 NA NA 0.001279 0.000454 NA NA NA 3.998021 1260 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 1260 15 90176432 90176432 T G exonic KIF7 NA synonymous SNV KIF7:NM_198525:exon13:c.A2658C:p.A886A exonic ENSG00000166813 NA synonymous SNV ENSG00000166813:ENST00000394412:exon13:c.A2658C:p.A886A NA NA 15q26.1 NA NA NA NA rs3803531 0.81 0.81 0.806 0.794529 0.8946 0.7312 0.7709 0.7587 0.8221 0.9 0.72 0.8 0.78 0.8618 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 -1.174686 NA NA 0.912401 0.78854 ID=COSM147979;OCCURENCE=1(stomach) 0.558 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117420.2;CLNDSDB=.;CLNDSDBID=. 3.9978656 1260 7 73800962 73800962 C T intronic CLIP2 NA NA NA intronic ENSG00000106665 NA NA NA NA NA 7q11.23 NA NA NA NA rs182918944 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 1.12902 NA NA 0.000814 0.000454 NA NA NA 3.997686 1260 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 1260 14 22409771 22409771 A G intergenic OR4E2,DAD1 dist=275533;dist=624036 NA NA exonic ENSG00000211793 NA synonymous SNV ENSG00000211793:ENST00000390441:exon2:c.A261G:p.K87K NA NA 14q11.2 NA NA NA NA rs4982531 0.13 0.13 0.124 0.138578 0.162 0.0734 0.0836 0.1785 0.1667 0.17 0.07 0.09 0.17 0.1581 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.364162 NA NA 0.182235 0.185612 NA 0.13 NA 3.997665 1260 9 131862781 131862781 G A intronic CRAT NA NA NA intronic ENSG00000095321 NA NA NA NA NA 9q34.11 NA Name=USF-1,CTCF,CTCF_(SC-5916) Name=4 NA rs10988204 0.54 0.54 0.544 0.529752 0.7078 0.5992 0.6081 0.1989 0.6667 0.7 0.58 0.59 0.23 0.629 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 0.670432 NA NA 0.665581 0.259419 NA 0.449 NA 3.997619 1260 8 144411468 144411468 C T intronic TOP1MT NA NA NA intronic ENSG00000184428 NA NA NA NA NA 8q24.3 NA NA NA NA rs369650032 NA NA NA 0.000199681 0.001 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 -0.144929 NA NA 0.001507 0 NA 0.007 NA 3.997493 1260 7 21946162 21946162 A G intronic CDCA7L NA NA NA intronic ENSG00000164649 NA NA NA NA NA 7p15.3 NA NA NA NA rs202228816 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 -0.646416 NA NA 0.001163 0.000227 NA NA NA 3.997437 1260 5 154306972 154306972 T C exonic GEMIN5 NA synonymous SNV GEMIN5:NM_001252156:exon7:c.A1050G:p.L350L,GEMIN5:NM_015465:exon7:c.A1053G:p.L351L exonic ENSG00000082516 NA synonymous SNV ENSG00000082516:ENST00000285873:exon7:c.A1053G:p.L351L Score=535;Name=lod=199 NA 5q33.2 NA NA NA NA rs2258437 0.83 0.83 0.816 0.816494 0.8867 0.8909 0.7767 0.671 0.8926 0.89 0.9 0.82 0.67 0.8718 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 0.343992 NA NA 0.910814 0.697912 NA 0.841 NA 3.9973526 1260 9 119770480 119770480 C T exonic ASTN2 NA synonymous SNV ASTN2:NM_014010:exon6:c.G1329A:p.P443P exonic ENSG00000148219 NA synonymous SNV ENSG00000148219:ENST00000373986:exon5:c.G663A:p.P221P,ENSG00000148219:ENST00000361209:exon6:c.G1329A:p.P443P,ENSG00000148219:ENST00000313400:exon7:c.G1482A:p.P494P,ENSG00000148219:ENST00000373996:exon7:c.G1482A:p.P494P NA NA 9q33.1 NA NA NA NA rs3761845 0.54 0.54 0.506 0.489816 0.5656 0.748 0.7075 0.1377 0.4673 0.56 0.78 0.65 0.15 0.5488 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 0.885728 NA NA 0.555 0.19655 NA 0.572 NA 3.9972666 1260 12 120589243 120589243 T C intronic GCN1L1 NA NA NA intronic ENSG00000089154 NA NA NA NA NA 12q24.23 NA NA NA NA rs374197178 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.001 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 -0.13731 NA NA 0.000954 0 NA NA NA 3.997046 1260 3 31494907 31494907 G C intergenic GADL1,STT3B dist=558754;dist=79584 NA NA ncRNA_exonic ENSG00000227339 NA NA NA NA NA 3p23 NA NA NA NA rs184713048 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 0.236635 NA NA NA NA NA NA NA 3.997 1260 11 494662 494662 G A UTR3 RNH1 NM_002939:c.*29C>T,NM_203386:c.*29C>T,NM_203385:c.*29C>T,NM_203384:c.*29C>T,NM_203388:c.*29C>T,NM_203387:c.*29C>T,NM_203389:c.*29C>T,NM_203383:c.*29C>T NA NA UTR3 ENSG00000023191 ENST00000534797:c.*29C>T,ENST00000397614:c.*29C>T,ENST00000397604:c.*29C>T,ENST00000397615:c.*29C>T,ENST00000525701:c.*1315C>T,ENST00000529768:c.*43C>T,ENST00000533410:c.*29C>T,ENST00000438658:c.*29C>T,ENST00000354420:c.*29C>T,ENST00000356187:c.*29C>T NA NA NA NA 11p15.5 NA NA NA NA rs10540 0.07 0.07 0.049 0.0557109 0.0974 0.002 0.2118 0.0061 0.0245 0.1 NA 0.21 0.01 0.1098 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.493015 1.493015 NA 0.129535 0.025193 NA 0.065 NA 3.9965984 1260 21 45648880 45648880 C T UTR3 ICOSLG NM_015259:c.*37G>A NA NA UTR3 ENSG00000160223 ENST00000407780:c.*37G>A,ENST00000400377:c.*37G>A,ENST00000400379:c.*533G>A NA NA NA NA 21q22.3 NA NA NA NA rs55769116 0.1 0.1 0.08 0.0948482 0.1143 0.1657 0.0922 0.0068 0.1227 0.11 0.15 0.12 0.01 0.111 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.20308 NA NA 0.111542 0.022409 NA 0.167 NA 3.9964914 1260 5 5190256 5190256 A G intronic ADAMTS16 NA NA NA intronic ENSG00000145536 NA NA NA NA NA 5p15.32 NA NA NA NA rs72647748 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0007 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 -0.281939 NA NA 0.002034 0.000492 NA NA NA 3.996266 1260 1 2520820 2520820 G A intronic FAM213B NA NA NA intronic ENSG00000157870 NA NA NA NA NA 1p36.32 NA NA NA NA rs149857424 0.0014 0.0014 0.001 0.000998403 0.001 NA 0.0014 0.0015 0.001 0.0013 NA 0.0028 0.002 0.0011 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 0.512299 NA NA 0.00186 0 NA NA NA 3.99604 1260 22 30780307 30780307 A G intronic RNF215 NA NA NA intronic ENSG00000099999 NA NA NA NA NA 22q12.2 NA NA NA NA rs200491316 0.0005 0.0005 NA 0.00139776 0.001 NA 0.0043 0.0008 0.002 NA 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 -1.165964 NA NA 0.002093 0 NA 0.007 NA 3.996007 1260 9 140034214 140034214 C T intronic GRIN1 NA NA NA intronic ENSG00000176884 NA NA NA NA NA 9q34.3 NA NA NA NA rs202160831 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0014 0.0016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.158191 NA NA 0.001628 0.000908 NA NA NA 3.995972 1260 11 117988082 117988082 T C exonic TMPRSS4 NA synonymous SNV TMPRSS4:NM_001173552:exon11:c.T1095C:p.S365S,TMPRSS4:NM_001083947:exon12:c.T1200C:p.S400S,TMPRSS4:NM_001173551:exon12:c.T1209C:p.S403S,TMPRSS4:NM_019894:exon12:c.T1215C:p.S405S exonic ENSG00000137648 NA synonymous SNV ENSG00000137648:ENST00000523251:exon11:c.T1095C:p.S365S,ENSG00000137648:ENST00000437212:exon12:c.T1215C:p.S405S,ENSG00000137648:ENST00000522307:exon12:c.T774C:p.S258S,ENSG00000137648:ENST00000522824:exon12:c.T1200C:p.S400S,ENSG00000137648:ENST00000534111:exon12:c.T1209C:p.S403S Score=489;Name=lod=130 NA 11q23.3 NA NA NA NA rs642215 0.81 0.81 0.792 0.783347 0.9095 0.5734 0.9207 0.8994 0.6155 0.91 0.55 0.9 0.89 0.8491 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 -0.073844 NA NA 0.912128 0.904318 NA 0.87 NA 3.9959386 1260 11 95825797 95825797 A G exonic MAML2 NA synonymous SNV MAML2:NM_032427:exon2:c.T1398C:p.S466S exonic ENSG00000184384 NA synonymous SNV ENSG00000184384:ENST00000524717:exon2:c.T1398C:p.S466S NA NA 11q21 NA NA NA NA rs7931870 0.49 0.49 0.523 0.505391 0.5736 0.2014 0.464 0.7224 0.4847 0.58 0.18 0.49 0.73 0.519 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 -1.093853 NA NA 0.578253 0.7053 NA 0.341 NA 3.9958136 1260 11 67234745 67234745 C T intronic TMEM134 NA NA NA intronic ENSG00000172663 NA NA NA NA NA 11q13.2 NA NA NA NA rs377492873 NA NA NA 0.00119808 0.002 NA NA NA 0.0041 NA 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 0.872032 NA NA 0.001282 0.00091 NA NA NA 3.995718 1260 1 209796069 209796069 G C intronic LAMB3 NA NA NA intronic ENSG00000196878 NA NA NA NA NA 1q32.2 NA NA NA NA rs201090159 0.0005 0.0005 NA 0.000399361 0.001 NA NA NA 0.001 0.0013 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 1.145467 NA NA 0.002326 0.000227 NA NA NA 3.995274 1260 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 1261 10 134459341 134459341 C T intronic INPP5A NA NA NA intronic ENSG00000068383 NA NA NA NA NA 10q26.3 NA NA NA NA rs141407422 0.0009 0.0009 0.003 0.000599042 0.002 NA 0.0014 NA NA 0.0026 NA NA NA 0.0007 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 -0.721948 NA NA 0.002326 0 NA NA NA 3.994974 1261 2 24974945 24974945 T G exonic NCOA1 NA synonymous SNV NCOA1:NM_003743:exon18:c.T3801G:p.L1267L,NCOA1:NM_147223:exon18:c.T3801G:p.L1267L,NCOA1:NM_147233:exon18:c.T3801G:p.L1267L exonic ENSG00000084676 NA synonymous SNV ENSG00000084676:ENST00000288599:exon18:c.T3801G:p.L1267L,ENSG00000084676:ENST00000348332:exon18:c.T3801G:p.L1267L,ENSG00000084676:ENST00000395856:exon18:c.T3801G:p.L1267L,ENSG00000084676:ENST00000407230:exon18:c.T3348G:p.L1116L,ENSG00000084676:ENST00000538539:exon19:c.T3801G:p.L1267L,ENSG00000084676:ENST00000406961:exon20:c.T3801G:p.L1267L,ENSG00000084676:ENST00000405141:exon21:c.T3801G:p.L1267L Score=629;Name=lod=481 NA 2p23.3 NA NA NA NA rs11125763 0.86 0.86 0.839 0.836062 0.8976 0.996 0.9193 0.6278 0.8303 0.89 0.99 0.91 0.63 0.8784 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 1.304399 1.304399 NA 0.896047 0.668407 NA 0.833 NA 3.9946196 1261 4 79373520 79373520 A G intronic FRAS1 NA NA NA intronic ENSG00000138759 NA NA NA NA NA 4q21.21 NA NA NA NA rs185282133 0.0009 0.0009 NA 0.000798722 0.003 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0012 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 0.008036 NA NA 0.001197 0.000252 NA NA NA 3.994603 1261 14 21875003 21875003 T A intronic CHD8 NA NA NA intronic ENSG00000100888 NA NA NA NA NA 14q11.2 NA NA NA NA rs200189975 NA NA NA 0.000998403 0.002 NA NA 0.0023 NA NA NA NA NA 0.0014 0.0021 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.362912 2.362912 NA 0.002052 0.001031 NA NA NA 3.994548 1261 20 13847325 13847325 A G intronic SEL1L2 NA NA NA intronic ENSG00000101251 NA NA NA NA NA 20p12.1 NA NA NA NA rs191156471 0.0014 0.0014 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0026 NA 0.0028 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 -0.473384 NA NA 0.001957 0 NA NA NA 3.994543 1261 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 1261 X 65824862 65824862 C G intronic EDA2R NA NA NA intronic ENSG00000131080 NA NA NA NA NA Xq12 NA NA NA NA rs148045310 0.0006 0.0006 0.0018 NA NA NA NA NA NA 0.0017 NA NA NA 0.0024 0.0034 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.4396 NA NA 0.00342 0 NA NA NA 3.99418 1261 6 32172065 32172065 T G exonic NOTCH4 NA synonymous SNV NOTCH4:NM_004557:exon19:c.A2967C:p.G989G exonic ENSG00000204301 NA synonymous SNV ENSG00000204301:ENST00000375023:exon19:c.A2967C:p.G989G Score=608;Name=lod=393 NA 6p21.32 NA NA NA NA rs1044506 0.95 0.95 0.951 0.963259 0.8907 0.9921 0.9568 0.9924 0.9734 0.88 0.99 0.96 0.99 0.9165 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 1.450376 1.450376 NA 0.865399 0.971504 NA 0.949 NA 3.9940676 1261 7 98524999 98524999 G A intronic TRRAP NA NA NA intronic ENSG00000196367 NA NA NA NA NA 7q22.1 NA NA NA NA rs111827344 0.0014 0.0014 NA 0.000599042 0.003 NA NA NA NA 0.004 NA NA NA 0.0018 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 0.48029 NA NA 0.001395 0.000681 NA NA NA 3.993805 1261 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 1261 3 40351484 40351484 C T intronic EIF1B NA NA NA intronic ENSG00000114784 NA NA NA NA NA 3p22.1 NA Name=Pol2(b),YY1_(C-20),Pol2 NA NA rs11709089 0.38 0.38 0.32 0.381789 0.3131 0.6042 0.33 0.2201 0.4785 0.31 0.58 0.38 0.25 0.3694 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.948182 NA NA 0.324186 0.268724 NA 0.348 NA 3.993314 1261 4 70078281 70078281 G C intronic UGT2B11 NA NA NA ncRNA_intronic ENSG00000250696 NA NA NA NA NA 4q13.2 NA NA NA NA rs62298955 0.16 0.16 0.156 0.167332 0.1064 0.0476 0.1801 0.3033 0.1605 0.1 0.06 0.19 0.33 0.1375 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476582 NA NA 0.096301 0.265547 NA 0.246 NA 3.9931323 1261 7 73450948 73450948 A C intronic ELN NA NA NA intronic ENSG00000049540 NA NA NA NA NA 7q11.23 NA NA NA NA rs186990808 0.0014 0.0014 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0026 NA 0.0028 NA 0.0021 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 -0.319372 NA NA 0.002791 0.001135 NA NA NA 3.993109 1261 13 113801836 113801836 C T intronic F10 NA NA NA intronic ENSG00000126218 NA NA NA NA NA 13q34 NA NA NA NA rs183118165 0.0009 0.0009 NA 0.000798722 0.002 NA 0.0014 NA 0.001 0.0013 NA 0.0028 NA 0.0024 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 -0.701066 NA NA 0.002558 0.000227 NA NA NA 3.993042 1261 3 57139972 57139972 A G exonic IL17RD NA synonymous SNV IL17RD:NM_017563:exon7:c.T660C:p.H220H exonic ENSG00000144730 NA synonymous SNV ENSG00000144730:ENST00000296318:exon7:c.T660C:p.H220H,ENSG00000144730:ENST00000427856:exon7:c.T588C:p.H196H,ENSG00000144730:ENST00000463523:exon7:c.T228C:p.H76H,ENSG00000144730:ENST00000320057:exon8:c.T228C:p.H76H NA NA 3p14.3 Score=745;Name=V$PPARG_01 NA NA NA rs1545981 0.77 0.77 0.743 0.79373 0.9036 0.5208 0.8948 0.7451 0.956 0.9 0.52 0.91 0.73 0.8697 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 -0.033353 NA NA 0.900581 0.777576 NA 0.841 NA 3.9927856 1261 1 94946205 94946205 A G intronic ABCD3 NA NA NA intronic ENSG00000117528 NA NA NA NA NA 1p21.3 NA NA NA NA rs149439656 0.0009 0.0009 0 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0017 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 0.024086 NA NA 0.003605 0.000454 NA NA NA 3.992695 1261 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 1261 11 77825275 77825275 A G ncRNA_intronic RNU6-83P NA NA NA intronic ENSG00000159063 NA NA NA NA NA 11q14.1 NA NA Name=2 NA rs10899440 0.35 0.35 0.327 0.336661 0.4553 0.3611 0.3775 0.1437 0.4213 0.45 0.36 0.38 0.15 0.4206 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463833 NA NA 0.465401 0.192045 NA 0.399 NA 3.9920323 1261 14 23882896 23882896 C T intronic MYH7 NA NA NA intronic ENSG00000092054 NA NA NA NA NA 14q11.2 NA NA NA NA rs45553533 0.0032 0.0032 0.004 0.00279553 0.008 NA 0.0058 0.0008 0.001 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 -0.284589 NA NA NA NA NA 0.007 NA 3.992 1261 6 152777202 152777202 A G intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs200303326 0.0014 0.0014 NA 0.00179712 0.004 NA 0.0058 0.0008 NA 0.0026 NA 0.0028 NA 0.0022 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 0.747444 NA NA 0.001977 0.001362 NA 0.007 NA 3.991823 1261 11 61906374 61906374 T C exonic INCENP NA synonymous SNV INCENP:NM_001040694:exon7:c.T1188C:p.N396N,INCENP:NM_020238:exon7:c.T1188C:p.N396N exonic ENSG00000149503 NA synonymous SNV ENSG00000149503:ENST00000278849:exon7:c.T1188C:p.N396N,ENSG00000149503:ENST00000394818:exon7:c.T1188C:p.N396N NA NA 11q12.3 Score=891;Name=V$SOX9_B1 NA NA NA rs1675126 0.78 0.78 0.788 0.785942 0.9135 0.4871 0.9035 0.907 0.7157 0.9 0.45 0.9 0.91 0.8436 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 -0.095937 NA NA 0.917772 0.910536 ID=COSM147259;OCCURENCE=1(stomach) 0.819 NA 3.9917946 1261 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 1261 8 133995588 133995588 T A intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA NA NA NA rs79724982 0.0005 0.0005 NA 0.000399361 0.002 NA NA NA NA 0.0013 NA NA NA 0.0028 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 0.650208 NA NA 0.003488 0.001135 NA NA NA 3.991712 1261 20 18505674 18505674 C T intronic SEC23B NA NA NA intronic ENSG00000101310 NA NA NA NA NA 20p11.23 NA NA NA NA rs200020725 0.0009 0.0009 NA 0.000998403 0.002 NA NA 0.0008 0.002 0.0026 NA NA NA 0.0025 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 -0.243486 NA NA 0.003837 0.000681 ID=COSM328460;OCCURENCE=1(pancreas) NA NA 3.991663 1261 7 83095955 83095955 A G intronic SEMA3E NA NA NA intronic ENSG00000170381 NA NA NA NA NA 7q21.11 NA Name=Pol2 NA NA rs7806439 0.32 0.32 0.329 0.357228 0.3459 0.2044 0.2882 0.4614 0.4346 0.34 0.22 0.3 0.42 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 0.802469 NA NA 0.329651 0.414435 NA 0.391 NA 3.991549 1261 4 1742779 1742779 G A intronic TACC3 NA NA NA ncRNA_exonic ENSG00000218422 NA NA NA NA NA 4p16.3 NA NA NA NA rs1530588 0.39 0.39 0.386 0.38738 0.3419 0.6925 0.3718 0.1256 0.4847 0.36 0.69 0.36 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 -0.491016 NA NA NA NA NA 0.312 NA 3.9914333 1261 8 2831959 2831959 C T intronic CSMD1 NA NA NA intronic ENSG00000183117 NA NA NA NA NA 8p23.2 NA NA NA NA rs191729544 0.0014 0.0014 NA 0.000798722 0.003 NA NA NA 0.001 0.004 NA NA NA 0.003 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 -1.387549 NA NA 0.002779 0.001036 NA NA NA 3.991221 1261 6 105563551 105563551 G A intronic BVES NA NA NA intronic ENSG00000112276 NA NA NA NA NA 6q21 NA NA NA NA rs192880685 0.0005 0.0005 NA 0.00139776 0.002 NA 0.0014 NA 0.0041 NA NA 0.0028 NA 0.0024 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 1.979401 1.979401 NA 0.004535 0.000681 NA NA NA 3.991065 1261 14 20852499 20852499 G C intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs148872333 0.0014 0.0014 0.002 0.000998403 0.004 NA 0.0014 NA NA 0.0026 NA 0.0028 NA 0.0019 0.0033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063781 NA NA 0.003256 0.000681 NA NA NA 3.990844 1261 17 29184166 29184166 T A intronic ATAD5 NA NA NA ncRNA_intronic ENSG00000265334 NA NA NA NA NA 17q11.2 NA NA NA NA rs73277967 0.12 0.12 0.104 0.140575 0.1074 0.1359 0.1844 0.0582 0.2597 0.09 0.16 0.18 0.09 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 0.631835 NA NA 0.104884 0.064911 NA 0.138 NA 3.9906493 1261 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 1261 19 54403801 54403801 T C intronic PRKCG NA NA NA intronic ENSG00000126583 NA NA NA NA NA 19q13.42 NA NA NA NA rs2242245 0.07 0.07 0.063 0.0605032 0.005 0.1081 0.0245 0.093 0.0501 0.01 0.13 0.04 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 -0.792881 NA NA 0.005028 0.081647 NA 0.08 NA 3.989972 1261 12 56086592 56086592 G A intronic ITGA7 NA NA NA intronic ENSG00000135424 NA NA NA NA NA 12q13.2 NA NA NA NA rs117488030 0.01 0.01 0.004 0.00379393 0.003 0.0099 0.0058 0.0008 0.001 0.01 0.01 0.01 0.002 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 0.136515 NA NA 0.001979 0.00091 NA NA NA 3.989721 1261 3 38051600 38051600 C T intronic PLCD1 NA NA NA intronic ENSG00000187091 NA NA NA NA NA 3p22.2 NA NA NA NA rs200788214 0.0014 0.0014 NA 0.000798722 0.004 NA NA NA NA 0.004 NA NA NA 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 -1.479322 NA NA 0.003837 0.000681 NA NA NA 3.989263 1261 3 121100125 121100125 T A intronic STXBP5L NA NA NA intronic ENSG00000145087 NA NA NA NA NA 3q13.33 NA NA NA NA rs200825043 NA NA NA 0.00179712 0.006 NA 0.0029 0.0008 NA NA NA 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 -0.135248 NA NA NA NA NA NA NA 3.989 1261 14 21543733 21543733 G A intronic ARHGEF40 NA NA NA intronic ENSG00000165801 NA NA NA NA NA 14q11.2 NA NA NA NA rs117657505 0.0023 0.0023 0.003 0.00199681 0.008 NA 0.0014 0.0008 NA 0.01 NA 0.0028 NA 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 1.574989 1.574989 NA NA NA NA 0.014 NA 3.989 1261 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 1261 12 21602437 21602437 A G intronic PYROXD1 NA NA NA intronic ENSG00000121350 NA NA NA NA NA 12p12.1 NA NA NA NA rs147619410 0.01 0.01 0.003 0.00519169 0.0119 NA 0.013 0.0008 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 0.366548 NA NA NA NA NA NA NA 3.9881 1261 8 12870186 12870186 C G UTR5 KIAA1456 NM_001099677:c.-8381C>G NA NA intronic ENSG00000250305 NA NA NA NA NA 8p22 NA NA NA NA rs12156420 0.04 0.04 0.037 0.0467252 0.0586 0.0218 0.0749 0.003 0.0992 0.06 0.03 0.06 0.0041 0.0614 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 1.15226 NA NA 0.058788 0.01347 NA 0.029 NA 3.9878787 1261 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 1261 6 119628029 119628029 C T intronic MAN1A1 NA NA NA intronic ENSG00000111885 NA NA NA NA NA 6q22.31 NA Name=TAL1_(SC-12984),CEBPB Name=2 NA rs195092 0.66 0.66 0.642 0.633986 0.6909 0.4772 0.6931 0.7625 0.5215 0.7 0.47 0.7 0.79 0.6516 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 0.635349 NA NA 0.67 0.725828 NA 0.681 NA 3.9875 1261 1 116269768 116269768 A C intronic CASQ2 NA NA NA intronic ENSG00000118729 NA NA NA NA NA 1p13.1 NA NA NA NA rs72554064 0.0032 0.0032 0.003 0.00259585 0.002 NA 0.0159 NA NA 0.0013 NA 0.02 NA 0.0043 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 0.416331 NA NA 0.006395 0.000908 NA 0.022 NA 3.987305 1261 19 56180968 56180968 C T exonic U2AF2 NA synonymous SNV U2AF2:NM_001012478:exon11:c.C1191T:p.D397D,U2AF2:NM_007279:exon11:c.C1203T:p.D401D exonic ENSG00000063244 NA synonymous SNV ENSG00000063244:ENST00000590551:exon6:c.C699T:p.D233D,ENSG00000063244:ENST00000308924:exon11:c.C1203T:p.D401D,ENSG00000063244:ENST00000450554:exon11:c.C1191T:p.D397D NA NA 19q13.42 NA NA Name=4 NA rs617073 0.8 0.8 0.803 0.777356 0.8996 0.6875 0.9222 0.6301 0.8405 0.91 0.72 0.91 0.63 0.8665 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 -0.992489 NA NA 0.913488 0.669542 ID=COSM1396639;OCCURENCE=1(large_intestine) 0.768 NA 3.9870786 1261 11 14520375 14520375 G A intronic COPB1 NA NA NA intronic ENSG00000129083,ENSG00000129084,ENSG00000256206 NA NA NA NA NA 11p15.2 NA NA NA NA rs142738460 0.0023 0.0023 0.003 0.00179712 0.005 NA 0.0058 NA NA 0.004 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 1.357198 1.357198 NA 0.004658 0.001591 NA NA NA 3.986442 1261 X 15266819 15266819 C T UTR3 ASB9 NM_001168531:c.*18G>A,NM_001168530:c.*18G>A,NM_024087:c.*18G>A NA NA UTR3 ENSG00000102048 ENST00000380485:c.*18G>A,ENST00000380483:c.*18G>A,ENST00000546332:c.*18G>A NA NA NA NA Xp22.2 NA NA NA NA rs1139868 0.32 0.32 0.33227 NA NA NA NA NA NA 0.15 0.32 0.26 0.62 0.2154 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.216574 NA NA 0.131688 0.604172 NA 0.29 NA 3.9862454 1261 4 84347111 84347111 A G intronic HELQ NA NA NA intronic ENSG00000163312 NA NA NA NA NA 4q21.23 NA NA NA NA rs140205919 0.01 0.01 0.004 0.0111821 0.002 NA 0.0764 0.0008 NA 0.0013 NA 0.06 0.002 0.0105 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 -0.791938 NA NA 0.001279 0.00227 NA 0.007 NA 3.986221 1261 14 53619463 53619463 G A exonic DDHD1 NA synonymous SNV DDHD1:NM_001160147:exon1:c.C354T:p.H118H,DDHD1:NM_001160148:exon1:c.C354T:p.H118H,DDHD1:NM_030637:exon1:c.C354T:p.H118H exonic ENSG00000100523 NA synonymous SNV ENSG00000100523:ENST00000323669:exon1:c.C354T:p.H118H,ENSG00000100523:ENST00000357758:exon1:c.C354T:p.H118H,ENSG00000100523:ENST00000395606:exon1:c.C354T:p.H118H NA NA 14q22.1 NA NA NA NA rs2358188 0.76 0.76 0.692 0.752196 0.835 0.9673 0.8501 0.379 0.8804 0.85 0.94 0.82 0.38 0.8455 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 1.008693 NA NA NA NA NA 0.188 NA 3.9861666 1261 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 1261 1 59142564 59142564 C T intronic MYSM1 NA NA NA intronic ENSG00000162601 NA NA NA NA NA 1p32.1 NA NA NA NA rs41298539 0.01 0.01 0.003 0.0061901 0.001 0.0208 0.0043 0.0015 0.0041 NA 0.02 0.0028 0.0041 0.0061 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 -0.96682 NA NA 0.00699 0.001658 NA 0.014 NA 3.98591 1261 5 146762989 146762989 A G intronic STK32A NA NA NA intronic ENSG00000169302 NA NA NA NA NA 5q32 NA NA NA NA rs140115539 0.0037 0.0037 0.001 0.00139776 0.007 NA NA NA NA 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 -1.47743 NA NA 0.000419 0 NA NA NA 3.985781 1261 6 31594628 31594628 T A exonic PRRC2A NA synonymous SNV PRRC2A:NM_004638:exon10:c.T1062A:p.G354G,PRRC2A:NM_080686:exon10:c.T1062A:p.G354G exonic ENSG00000204469 NA synonymous SNV ENSG00000204469:ENST00000376007:exon10:c.T1062A:p.G354G,ENSG00000204469:ENST00000376033:exon10:c.T1062A:p.G354G Score=609;Name=lod=399 NA 6p21.33 NA NA NA NA rs3130071 0.95 0.95 0.95 0.966254 0.8946 0.9911 0.9654 0.9962 0.9744 0.88 0.99 0.96 0.99 0.919 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 1.036223 NA NA 0.867294 0.972866 ID=COSM451207;OCCURENCE=1(breast) 0.949 NA 3.9857726 1261 12 53684619 53684619 A G intronic ESPL1 NA NA NA intronic ENSG00000135476 NA NA NA NA NA 12q13.13 NA NA Name=39 NA rs61754164 0.26 0.26 0.22 0.20607 0.3539 0.122 0.3386 0.1377 0.1391 0.37 0.17 0.33 0.15 0.3164 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184698 NA NA 0.34407 0.170222 NA 0.348 NA 3.98563 1261 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 1261 20 60908964 60908964 G A exonic LAMA5 NA synonymous SNV LAMA5:NM_005560:exon23:c.C2871T:p.C957C exonic ENSG00000130702 NA synonymous SNV ENSG00000130702:ENST00000252999:exon23:c.C2871T:p.C957C Score=445;Name=lod=86 NA 20q13.33 NA NA NA NA rs13044266 0.78 0.78 0.679 0.721446 0.9155 0.9365 0.7983 0.3109 0.8006 0.91 0.95 0.8 0.34 0.8465 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 -0.751395 NA NA 0.919347 0.40963 ID=COSM1412950;OCCURENCE=1(large_intestine) 0.478 NA 3.9853196 1261 1 230415244 230415244 T C UTR3 GALNT2 NM_004481:c.*40T>C NA NA UTR3 ENSG00000143641 ENST00000543760:c.*40T>C,ENST00000366672:c.*40T>C NA NA NA NA 1q42.13 NA NA NA NA rs2273968 0.23 0.23 0.228 0.227636 0.1064 0.4435 0.2363 0.2474 0.0971 0.11 0.42 0.16 0.25 0.1465 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076496 NA NA 0.095233 0.202224 NA 0.116 NA 3.9852004 1261 19 58083467 58083467 C T UTR3 ZNF416 NM_017879:c.*20G>A NA NA UTR3 ENSG00000083817 ENST00000196489:c.*20G>A NA NA NA NA 19q13.43 NA NA NA NA rs73060436 0.16 0.16 0.145 0.163938 0.1163 0.2222 0.1369 0.1906 0.136 0.12 0.2 0.15 0.2 0.1227 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621446 NA NA 0.109186 0.191557 NA 0.174 NA 3.9851474 1262 2 208986637 208986637 T C exonic CRYGD NA synonymous SNV CRYGD:NM_006891:exon3:c.A285G:p.R95R exonic ENSG00000118231 NA synonymous SNV ENSG00000118231:ENST00000264376:exon3:c.A285G:p.R95R Score=463;Name=lod=102 NA 2q33.3 NA NA NA NA rs2305430 0.79 0.79 0.785 0.776757 0.9165 0.6131 0.7767 0.829 0.7311 0.92 0.62 0.79 0.8 0.85 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 1.16818 NA NA 0.915233 0.847935 NA 0.833 NA 3.9849336 1262 7 71036248 71036248 C T intronic WBSCR17 NA NA NA intronic ENSG00000185274 NA NA NA NA NA 7q11.22 NA NA NA NA rs192340055 0.0023 0.0023 NA 0.00419329 0.003 NA 0.0043 NA 0.0153 0.004 NA 0.01 NA 0.0065 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 -0.728738 NA NA 0.005698 0.000681 NA 0.007 NA 3.984802 1262 5 74034290 74034290 C T intronic GFM2 NA NA NA intronic ENSG00000164347 NA NA NA NA NA 5q13.3 NA NA NA NA rs186213016 0.0014 0.0014 NA 0.00179712 0.008 NA NA NA 0.001 0.004 NA NA NA 0.0023 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 -0.741717 NA NA 0.005001 0.000681 NA NA NA 3.984699 1262 17 48625632 48625632 A C intronic SPATA20 NA NA NA intronic ENSG00000006282 NA NA NA NA NA 17q21.33 NA NA NA NA rs140613420 0.0027 0.0027 0.002 0.00159744 0.005 NA 0.0029 NA 0.001 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 1.002891 NA NA 0.006746 0.002043 NA NA NA 3.984654 1262 11 72946020 72946020 C T exonic P2RY2 NA synonymous SNV P2RY2:NM_002564:exon3:c.C816T:p.R272R,P2RY2:NM_176071:exon3:c.C816T:p.R272R,P2RY2:NM_176072:exon3:c.C816T:p.R272R exonic ENSG00000175591 NA synonymous SNV ENSG00000175591:ENST00000311131:exon3:c.C816T:p.R272R,ENSG00000175591:ENST00000393596:exon3:c.C816T:p.R272R,ENSG00000175591:ENST00000393597:exon3:c.C816T:p.R272R NA NA 11q13.4 NA NA NA NA rs1783596 0.6 0.6 0.597 0.576677 0.5636 0.619 0.6628 0.5809 0.4796 0.56 0.63 0.65 0.6 0.5612 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.775387 NA NA 0.557303 0.565455 NA 0.464 NA 3.9845636 1262 2 44010620 44010620 G A intronic DYNC2LI1 NA NA NA intronic ENSG00000138036 NA NA NA NA NA 2p21 Score=733;Name=V$PPARG_02 NA NA NA rs3815995 0.4 0.4 0.387 0.44389 0.3151 0.1657 0.4654 0.7254 0.4673 0.31 0.17 0.48 0.74 0.3836 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.340986 NA NA 0.317198 0.663261 NA 0.543 NA 3.984102 1262 20 48700601 48700601 C T intronic TMEM189-UBE2V1,UBE2V1 NA NA NA intronic ENSG00000124208,ENSG00000240849,ENSG00000244687 NA NA NA NA NA 20q13.13 NA NA NA NA rs75967413 0.01 0.01 0.005 0.00519169 0.0159 NA 0.0101 0.0015 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 0.480479 NA NA NA NA NA NA NA 3.9841 1262 22 31663927 31663927 T C intronic LIMK2 NA NA NA intronic ENSG00000182541 NA NA NA NA NA 22q12.2 NA NA NA NA rs145362557 0.0041 0.0041 0 0.00239617 0.0099 NA 0.0014 NA 0.001 0.01 NA 0.0028 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 1.136456 NA NA 0.003023 0.000454 NA NA NA 3.983777 1262 1 67852335 67852335 G A exonic IL12RB2 NA synonymous SNV IL12RB2:NM_001258215:exon12:c.G1671A:p.T557T,IL12RB2:NM_001559:exon14:c.G1929A:p.T643T,IL12RB2:NM_001258214:exon15:c.G1929A:p.T643T exonic ENSG00000081985 NA synonymous SNV ENSG00000081985:ENST00000544434:exon12:c.G1671A:p.T557T,ENSG00000081985:ENST00000262345:exon14:c.G1929A:p.T643T,ENSG00000081985:ENST00000371000:exon14:c.G1929A:p.T643T,ENSG00000081985:ENST00000541374:exon15:c.G1929A:p.T643T NA NA 1p31.3 NA NA NA NA rs2228420 0.43 0.43 0.43 0.413538 0.5845 0.3442 0.4697 0.1989 0.5593 0.59 0.35 0.49 0.24 0.5277 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142394 NA NA 0.570698 0.232183 NA 0.377 NA 3.9837686 1262 3 184026703 184026703 C T UTR3 PSMD2 NM_002808:c.*25C>T NA NA UTR3 ENSG00000175166 ENST00000310118:c.*25C>T,ENST00000439383:c.*25C>T,ENST00000435761:c.*25C>T NA NA NA NA 3q27.1 NA Name=CTCF,GATA-2,Rad21 NA NA rs6845 0.29 0.29 0.278 0.298922 0.4712 0.2778 0.255 0.1127 0.4264 0.47 0.22 0.3 0.11 0.4072 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.555517 NA NA 0.471279 0.166364 NA 0.333 NA 3.9836544 1262 1 2524205 2524205 C T intronic MMEL1 NA NA NA intronic ENSG00000142606 NA NA NA NA NA 1p36.32 NA NA Name=14 NA rs745368 0.43 0.43 0.404 0.497404 0.3101 0.5288 0.4452 0.6142 0.5368 0.31 0.47 0.42 0.58 0.3892 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.353527 NA NA 0.317093 0.5725 NA 0.442 NA 3.983607 1262 5 35857177 35857177 G C intronic IL7R NA NA NA intronic ENSG00000168685 NA NA NA NA NA 5p13.2 NA Name=JunD,EBF,BATF 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 1262 12 6619317 6619317 G A intronic NCAPD2 NA NA NA intronic ENSG00000010292 NA NA NA NA NA 12p13.31 NA NA NA NA rs61759526 0.0032 0.0032 NA 0.00579073 0.002 NA 0.0029 0.0182 0.001 NA NA NA 0.01 0.0064 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 0.308985 NA NA 0.008256 0.012256 NA NA NA 3.983344 1262 22 50898930 50898930 C T intronic SBF1 NA NA NA intronic ENSG00000100241 NA NA NA NA NA 22q13.33 NA NA NA NA rs184199324 0.0018 0.0018 NA 0.00159744 0.005 NA 0.0014 NA 0.002 0.004 NA 0.0028 NA 0.0058 0.0059 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.228512 NA NA 0.005863 0.000922 NA NA NA 3.983337 1262 4 1343405 1343405 T C exonic UVSSA NA synonymous SNV UVSSA:NM_020894:exon3:c.T192C:p.I64I exonic ENSG00000163945 NA synonymous SNV ENSG00000163945:ENST00000389851:exon3:c.T192C:p.I64I,ENSG00000163945:ENST00000507531:exon3:c.T192C:p.I64I,ENSG00000163945:ENST00000511216:exon3:c.T192C:p.I64I NA NA 4p16.3 NA NA NA NA rs2276903 0.63 0.63 0.631 0.632987 0.5447 0.5317 0.7032 0.8495 0.4857 0.56 0.53 0.67 0.83 0.5806 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 -0.842512 NA NA 0.55814 0.794825 NA 0.667 NA 3.9832266 1262 7 120776211 120776211 A G intronic CPED1 NA NA NA intronic ENSG00000106034 NA NA NA NA NA 7q31.31 NA NA NA NA rs150176680 0.01 0.01 0.003 0.00259585 0.0099 NA 0.0043 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 0.691891 NA NA 0.006931 0.000723 NA NA NA 3.983169 1262 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 1262 19 39688815 39688815 C T intronic NCCRP1 NA NA NA intronic ENSG00000188505 NA NA NA NA NA 19q13.2 NA Name=CTCF_(SC-5916),CTCF,AP-2alpha,AP-2gamma,Rad21 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 1262 1 153410625 153410625 A C intronic S100A7L2 NA NA NA intronic ENSG00000197364 NA NA NA NA NA 1q21.3 NA NA NA NA rs147282626 0.01 0.01 0.007 0.0105831 0.005 0.0079 0.0562 NA 0.001 0.01 0.01 0.04 NA 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 -0.438132 NA NA 0.004302 0.001816 NA NA NA 3.982198 1262 17 7734174 7734174 G A intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs142411344 0.0014 0.0014 0.002 0.000798722 0.004 NA NA NA NA 0.004 NA NA NA 0.0055 0.0087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.025346 2.025346 NA 0.008721 0.001589 NA NA NA 3.981779 1262 6 44361330 44361330 A C intronic CDC5L NA NA NA intronic ENSG00000096401 NA NA NA NA NA 6p21.1 NA NA NA NA rs111990866 0.0027 0.0027 0.003 0.00219649 0.008 NA 0.0014 0.0008 0.001 0.01 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 1.023616 NA NA 0.006512 0.001362 NA 0.007 NA 3.981588 1262 12 6969479 6969479 C T intronic USP5 NA NA NA intronic ENSG00000111667 NA NA NA NA NA 12p13.31 NA NA NA NA rs17788417 0.0032 0.0032 NA 0.00199681 0.007 NA 0.0029 0.0008 NA 0.01 NA 0.01 0.002 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 -0.039475 NA NA 0.006628 0.00227 NA 0.007 NA 3.981372 1262 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 1262 17 78073294 78073294 T C intronic CCDC40 NA NA NA intronic ENSG00000141519 NA NA NA NA NA 17q25.3 NA NA NA NA rs147702876 0.01 0.01 0.001 0.0119808 0.003 NA 0.0461 0.0008 0.0245 0.0026 NA 0.03 0.002 0.0123 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 -0.380948 NA NA 0.003759 0.00052 NA 0.014 NA 3.980941 1262 11 118983351 118983351 G A intronic C2CD2L NA NA NA intronic ENSG00000172375 NA NA NA NA NA 11q23.3 NA NA NA NA rs140734829 0.0032 0.0032 0.002 0.00179712 0.008 NA 0.0014 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 3.020609 3.020609 NA 0.005821 0.000909 NA NA NA 3.980879 1262 10 70531237 70531237 T G intronic CCAR1 NA NA NA intronic ENSG00000060339 NA NA NA NA NA 10q21.3 NA NA NA NA rs149003312 0.0041 0.0041 0.001 0.00299521 0.008 NA 0.0058 0.0015 0.001 0.01 NA 0.01 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 0.032738 NA NA 0.006633 0.001363 NA NA NA 3.980867 1262 19 19453528 19453528 G A intronic MAU2 NA NA NA intronic ENSG00000129933 NA NA NA NA NA 19p13.11 NA NA NA NA rs191654042 0.01 0.01 NA 0.00279553 0.0089 NA 0.0072 NA NA 0.01 NA 0.01 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 -0.82838 NA NA 0.005908 0.002029 NA NA NA 3.980192 1262 7 2632823 2632823 G A intronic IQCE NA NA NA intronic ENSG00000106012 NA NA NA NA NA 7p22.3 NA NA NA NA rs77458018 0.01 0.01 0.006 0.00858626 0.0199 NA 0.0231 0.0015 0.0051 0.02 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 -1.014804 NA NA NA NA NA 0.007 NA 3.9801 1262 7 150093701 150093701 A C exonic ZNF775 NA synonymous SNV ZNF775:NM_173680:exon3:c.A132C:p.I44I exonic ENSG00000196456 NA synonymous SNV ENSG00000196456:ENST00000329630:exon3:c.A132C:p.I44I,ENSG00000196456:ENST00000478789:exon3:c.A132C:p.I44I,ENSG00000196456:ENST00000490973:exon3:c.A132C:p.I44I Score=399;Name=lod=56 NA 7q36.1 NA NA NA NA rs940453 0.86 0.86 0.875 0.839058 0.8917 0.7847 0.8905 0.8427 0.7996 0.89 0.83 0.88 0.85 0.8742 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 0.098027 NA NA 0.920686 0.875313 ID=COSM329643;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.833 NA 3.9800806 1262 X 2635620 2635620 C G intronic CD99 NA NA NA intronic ENSG00000002586 NA NA NA NA NA Xp22.33 NA NA NA NA rs7049560 0.01 0.01 0.021 NA NA NA NA NA NA 0.01 NA 0.01 0.03 0.0131 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 -0.65068 NA NA 0.006867 0.02315 NA 0.007 NA 3.980033 1262 14 37051427 37051427 C T intronic NKX2-8 NA NA NA intronic ENSG00000136327 NA NA NA NA NA 14q13.3 NA Name=SUZ12 NA NA rs11624339 0.28 0.28 0.267 0.227236 0.3638 0.3185 0.3545 0.0242 0.1769 0.35 0.33 0.35 0.04 0.2986 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785643 NA NA 0.357575 0.07065 NA 0.348 NA 3.980025 1262 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 1262 10 135097434 135097434 A G exonic TUBGCP2 NA synonymous SNV TUBGCP2:NM_001256618:exon13:c.T1707C:p.F569F,TUBGCP2:NM_006659:exon14:c.T2097C:p.F699F,TUBGCP2:NM_001256617:exon15:c.T2181C:p.F727F exonic ENSG00000130640 NA synonymous SNV ENSG00000130640:ENST00000368562:exon6:c.T876C:p.F292F,ENSG00000130640:ENST00000252936:exon13:c.T2097C:p.F699F,ENSG00000130640:ENST00000417178:exon13:c.T1707C:p.F569F,ENSG00000130640:ENST00000368563:exon14:c.T2097C:p.F699F,ENSG00000130640:ENST00000482278:exon14:c.T2097C:p.F699F,ENSG00000130640:ENST00000543663:exon14:c.T2181C:p.F727F Score=616;Name=lod=427 NA 10q26.3 NA NA NA NA rs2995326 0.9 0.9 0.893 0.901957 0.8996 0.9286 0.8401 0.9175 0.8998 0.89 0.94 0.86 0.9 0.8962 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 1.518492 1.518492 NA 0.891163 0.903087 NA 0.913 NA 3.9797036 1262 20 62200575 62200575 T C exonic HELZ2 NA synonymous SNV HELZ2:NM_001037335:exon5:c.A1014G:p.S338S exonic ENSG00000130589 NA synonymous SNV ENSG00000130589:ENST00000467148:exon4:c.A1014G:p.S338S NA NA 20q13.33 NA NA Name=9 NA rs1741594 0.89 0.89 0.905 0.934904 0.8767 0.999 0.9078 0.907 0.9857 0.85 0.93 0.91 0.9 0.9104 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 -1.228596 NA NA 0.899884 0.897955 NA 0.688 NA 3.9796826 1262 19 15726487 15726487 G T exonic CYP4F8 NA unknown UNKNOWN ncRNA_exonic ENSG00000186526 NA NA NA Score=272;Name=lod=17 NA 19p13.12 NA NA NA NA rs4646523 0.53 0.53 0.545 0.524161 0.6272 0.4266 0.4942 0.5227 0.5419 0.61 0.42 0.55 0.52 0.5814 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319452 NA NA 0.645116 0.50318 NA 0.623 NA 3.9796173 1262 1 202092415 202092415 A G exonic GPR37L1 NA synonymous SNV GPR37L1:NM_004767:exon1:c.A324G:p.G108G exonic ENSG00000170075 NA synonymous SNV ENSG00000170075:ENST00000367282:exon1:c.A324G:p.G108G NA NA 1q32.1 Score=788;Name=V$ER_Q6 NA NA NA rs3795596 0.84 0.84 0.815 0.851637 0.9066 0.8363 0.8285 0.7814 0.9223 0.91 0.81 0.87 0.75 0.887 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 -1.133926 NA NA 0.893605 0.817295 NA 0.833 NA 3.9794616 1262 15 42128568 42128568 C G intronic JMJD7,JMJD7-PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243789 NA NA NA NA NA 15q15.1 NA NA Name=7 NA rs2303516 0.25 0.25 0.218 0.248403 0.3559 0.1806 0.415 0.0522 0.3548 0.37 0.17 0.39 0.06 0.3637 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.455738 NA NA 0.301013 0.098494 NA 0.159 NA 3.979387 1262 8 11832079 11832079 A G exonic DEFB136 NA synonymous SNV DEFB136:NM_001033018:exon1:c.T30C:p.F10F exonic ENSG00000205884 NA synonymous SNV ENSG00000205884:ENST00000382209:exon1:c.T30C:p.F10F NA NA 8p23.1 NA NA NA NA rs10108075 0.74 0.74 0.749 0.771965 0.5159 0.9851 0.6945 0.8555 0.7577 0.52 0.99 0.65 0.83 0.6442 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 0.17391 NA NA 0.527303 0.811513 NA 0.725 NA 3.9792636 1262 3 188242386 188242386 A G intronic LPP NA NA NA intronic ENSG00000145012 NA NA NA NA NA 3q28 NA NA NA NA rs147041442 0.01 0.01 0.008 0.0061901 0.0209 NA 0.0058 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 -0.244328 NA NA NA NA NA NA NA 3.9791 1262 7 135080323 135080323 T G intronic CNOT4 NA NA NA intronic ENSG00000080802 NA NA NA NA NA 7q33 NA NA NA NA rs74840326 0.01 0.01 0.016 0.00858626 0.0209 NA 0.0202 0.0008 0.0072 0.02 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 0.454158 NA NA NA NA NA 0.065 NA 3.9791 1262 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 1262 9 79862319 79862319 C A intronic VPS13A NA NA NA intronic ENSG00000197969 NA NA NA NA NA 9q21.2 NA NA NA NA rs41289961 0.0037 0.0037 NA 0.00259585 0.0089 NA 0.0014 0.0008 0.002 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 1.673835 1.673835 NA 0.007348 0.001362 NA NA NA 3.979052 1262 4 1806015 1806015 G C intronic FGFR3 NA NA NA intronic ENSG00000068078 NA NA NA NA NA 4p16.3 NA NA NA NA rs17884871 NA NA NA 0.00539137 0.005 NA 0.0043 0.0113 0.0041 NA NA NA NA 0.009 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 -1.858419 NA NA 0.007003 0.006381 NA 0.014 NA 3.978997 1262 5 35988683 35988683 A G intronic UGT3A1 NA NA NA intronic ENSG00000145626 NA NA NA NA NA 5p13.2 NA NA NA NA rs183441140 0.0027 0.0027 NA 0.00179712 0.008 NA 0.0014 NA NA 0.01 NA NA NA 0.0063 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 -0.17318 NA NA 0.006744 0.001589 NA NA NA 3.978956 1262 14 24529890 24529890 A G exonic LRRC16B NA synonymous SNV LRRC16B:NM_138360:exon25:c.A2115G:p.L705L exonic ENSG00000186648 NA synonymous SNV ENSG00000186648:ENST00000342740:exon25:c.A2115G:p.L705L Score=583;Name=lod=311 NA 14q11.2 NA NA NA NA rs1951635 0.96 0.96 0.956 0.963259 0.8956 0.997 0.9784 0.9939 0.9458 0.89 1 0.97 1 0.9141 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.84531 NA NA 0.878372 0.974126 NA 0.913 NA 3.9785946 1262 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 1262 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 1262 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 1262 17 4455321 4455321 C T intronic MYBBP1A NA NA NA intronic ENSG00000132382 NA NA NA NA NA 17p13.2 NA NA NA NA rs116880590 0.0023 0.0023 0 0.00219649 0.005 NA 0.0029 0.0008 0.0031 0.01 NA 0.0028 NA 0.0071 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 1.705605 1.705605 NA 0.010349 0.001816 NA 0.014 NA 3.977551 1262 2 101584737 101584737 C T intronic NPAS2 NA NA NA intronic ENSG00000170485 NA NA NA NA NA 2q11.2 NA NA NA NA rs115806641 0.0023 0.0023 0.002 0.00199681 0.006 NA NA NA 0.0041 0.01 NA NA NA 0.0078 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 -0.301119 NA NA 0.008721 0.003177 NA NA NA 3.977479 1262 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 1262 15 58834741 58834741 G T exonic LIPC NA synonymous SNV LIPC:NM_000236:exon4:c.G465T:p.V155V exonic ENSG00000166035 NA synonymous SNV ENSG00000166035:ENST00000433326:exon3:c.G282T:p.V94V,ENSG00000166035:ENST00000299022:exon4:c.G465T:p.V155V,ENSG00000166035:ENST00000414170:exon5:c.G465T:p.V155V,ENSG00000166035:ENST00000356113:exon6:c.G465T:p.V155V NA NA 15q21.3 NA NA NA NA rs690 0.45 0.45 0.429 0.478035 0.5606 0.2401 0.4308 0.5484 0.5767 0.56 0.23 0.46 0.52 0.5412 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038614 NA NA 0.587954 0.561131 NA 0.601 NA 3.9769126 1262 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 1262 1 20027237 20027237 C T intronic TMCO4 NA NA NA intronic ENSG00000162542 NA NA NA NA NA 1p36.13 NA NA NA NA rs79496233 0.01 0.01 0.013 0.0107827 0.006 0.0238 0.0043 NA 0.0215 0.01 0.03 0.01 NA 0.0095 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 0.235571 NA NA 0.008023 0.002724 NA 0.022 NA 3.976477 1262 3 52555957 52555957 T C exonic STAB1 NA synonymous SNV STAB1:NM_015136:exon58:c.T6261C:p.R2087R exonic ENSG00000010327 NA synonymous SNV ENSG00000010327:ENST00000321725:exon58:c.T6261C:p.R2087R NA NA 3p21.1 NA NA NA NA rs9853056 0.61 0.61 0.624 0.563698 0.5646 0.4613 0.6571 0.7534 0.3456 0.57 0.52 0.67 0.72 0.5555 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.486077 NA NA 0.570465 0.699818 ID=COSM446839;OCCURENCE=1(breast) 0.572 NA 3.9761016 1262 4 102946347 102946347 A G intronic BANK1 NA NA NA ncRNA_intronic ENSG00000251309 NA NA NA NA NA 4q24 NA NA NA NA rs2035604 0.13 0.13 0.093 0.122005 0.1272 0.1766 0.255 0.0083 0.1196 0.12 0.17 0.22 0.01 0.118 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418898 NA NA 0.112209 0.023604 NA 0.188 NA 3.9759243 1262 9 17761567 17761567 A G intronic SH3GL2 NA NA NA intronic ENSG00000107295 NA NA NA NA NA 9p22.2 NA NA NA NA rs41298169 0.0027 0.0027 0 0.00199681 0.006 NA 0.0043 NA 0.001 0.01 NA 0.01 NA 0.0066 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 0.457926 NA NA 0.011586 0.003508 NA 0.022 NA 3.975814 1262 15 42126922 42126922 T G intronic JMJD7,JMJD7-PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243789 NA NA NA NA NA 15q15.1 NA NA NA NA rs150273593 0.0046 0.0046 0.003 0.00539137 0.0129 NA 0.0115 0.0015 0.0041 0.01 NA 0.01 NA 0.0045 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 -0.422474 NA NA 0.00686 0.001816 NA 0.007 NA 3.97574 1262 1 55119289 55119289 G C exonic MROH7 NA synonymous SNV MROH7:NM_001039464:exon3:c.G690C:p.L230L exonic ENSG00000184313,ENSG00000271723 NA synonymous SNV ENSG00000184313:ENST00000438846:exon1:c.G690C:p.L230L,ENSG00000184313:ENST00000413188:exon2:c.G690C:p.L230L,ENSG00000184313:ENST00000422659:exon2:c.G690C:p.L230L,ENSG00000184313:ENST00000339553:exon3:c.G690C:p.L230L,ENSG00000184313:ENST00000395690:exon3:c.G690C:p.L230L,ENSG00000271723:ENST00000414150:exon3:c.G690C:p.L230L,ENSG00000184313:ENST00000421030:exon3:c.G690C:p.L230L,ENSG00000271723:ENST00000425300:exon3:c.G690C:p.L230L,ENSG00000184313:ENST00000440047:exon3:c.G690C:p.L230L,ENSG00000271723:ENST00000606515:exon3:c.G690C:p.L230L NA NA 1p32.3 NA NA NA NA rs9332417 0.48 0.48 0.482 0.420527 0.5944 0.5208 0.4063 0.2716 0.3497 0.59 0.54 0.43 0.27 0.507 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307974 NA NA 0.589601 0.367723 NA 0.428 NA 3.9756656 1262 19 18218473 18218473 T G intronic MAST3 NA NA NA intronic ENSG00000099308 NA NA NA NA NA 19p13.11 NA NA NA NA rs148381701 0.01 0.01 0.005 0.00339457 0.0109 NA 0.0043 0.0008 0.002 0.01 NA 0.01 0.002 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 0.359023 NA NA 0.008696 0.001794 NA NA NA 3.975504 1262 15 65667724 65667724 A G exonic IGDCC3 NA synonymous SNV IGDCC3:NM_004884:exon2:c.T120C:p.A40A exonic ENSG00000174498 NA synonymous SNV ENSG00000174498:ENST00000327987:exon2:c.T120C:p.A40A NA NA 15q22.31 Score=773;Name=V$HTF_01 NA NA NA rs666623 0.89 0.89 0.868 0.909145 0.8917 0.8333 0.9424 0.9592 0.9141 0.89 0.82 0.94 0.95 0.9049 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 -1.072795 NA NA 0.894627 0.952522 NA 0.957 NA 3.9754396 1263 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 1263 19 5041178 5041178 T C exonic KDM4B NA synonymous SNV KDM4B:NM_015015:exon5:c.T348C:p.D116D exonic ENSG00000127663 NA synonymous SNV ENSG00000127663:ENST00000536461:exon4:c.T348C:p.D116D,ENSG00000127663:ENST00000588337:exon4:c.T348C:p.D116D,ENSG00000127663:ENST00000159111:exon5:c.T348C:p.D116D,ENSG00000127663:ENST00000381759:exon5:c.T348C:p.D116D NA NA 19p13.3 Score=920;Name=V$TCF11_01 NA NA NA rs2240678 0.87 0.87 0.865 0.880192 0.9085 0.7569 0.7824 0.9917 0.8967 0.91 0.77 0.8 0.97 0.8791 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 0.38221 NA NA 0.904186 0.970041 NA 0.87 NA 3.9748806 1263 10 403746 403746 G A intronic DIP2C NA NA NA intronic ENSG00000151240 NA NA NA NA NA 10p15.3 NA NA NA NA rs117671740 0.01 0.01 0.005 0.00439297 0.0099 NA 0.0173 NA NA 0.01 NA 0.02 NA 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 -0.353266 NA NA 0.008956 0.002043 NA NA NA 3.974644 1263 17 74774239 74774239 G A intronic MFSD11 NA NA NA intronic ENSG00000092931 NA NA NA NA NA 17q25.1 NA NA NA NA rs28619519 0.06 0.06 0.065 0.0814696 0.001 NA 0.0303 0.292 NA 0.0013 NA 0.02 0.25 0.0232 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518263 NA NA 0.001163 0.231956 NA 0.058 NA 3.974637 1263 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 1263 10 82040096 82040096 C T intronic MAT1A NA NA NA intronic ENSG00000151224 NA NA NA NA NA 10q23.1 NA NA NA NA rs200582092 0.0018 0.0018 NA 0.00219649 0.008 NA NA 0.0008 0.002 0.01 NA NA NA 0.0064 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 0.4741 NA NA 0.011163 0.001816 NA NA NA 3.974437 1263 1 21092064 21092064 G A intronic HP1BP3 NA NA NA intronic ENSG00000127483 NA NA NA NA NA 1p36.12 NA NA NA NA rs41265093 0.0037 0.0037 0.004 0.00299521 0.006 NA 0.0072 NA 0.0041 0.01 NA 0.01 NA 0.0082 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 0.840747 NA NA 0.011512 0.003177 NA 0.007 NA 3.974288 1263 19 8503267 8503267 C T intronic MARCH2 NA NA NA intronic ENSG00000099785 NA NA NA NA NA 19p13.2 NA NA NA NA rs79496212 0.01 0.01 0.003 0.00678914 0.008 0.001 0.0086 0.003 0.0153 0.01 0.0017 0.01 0.002 0.0082 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 0.051117 NA NA 0.009535 0.003631 NA 0.007 NA 3.974265 1263 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 1263 14 55643773 55643773 T G intronic DLGAP5 NA NA NA intronic ENSG00000126787 NA NA NA NA NA 14q22.3 NA NA NA NA rs72718819 0.01 0.01 0.01 0.0127796 0.007 NA 0.0086 0.0265 0.0164 0.01 NA 0.01 0.03 0.009 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 0.044204 NA NA 0.010233 0.019973 NA 0.007 NA 3.973767 1263 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 1263 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 1263 3 112063765 112063765 G A intronic CD200 NA NA NA intronic ENSG00000091972 NA NA NA NA NA 3q13.2 NA NA NA NA rs115358071 0.0027 0.0027 0.002 0.00279553 0.006 NA 0.0072 NA 0.0031 0.004 NA 0.01 NA 0.0082 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 0.048141 NA NA 0.012982 0.00302 NA NA NA 3.972818 1263 11 61549025 61549025 G A intronic MYRF NA NA NA intronic ENSG00000124920 NA NA NA NA NA 11q12.2 NA NA Name=4 NA rs174533 0.33 0.33 0.244 0.304313 0.3479 0.5665 0.5893 0.025 0.1646 0.36 0.41 0.55 0.04 0.3535 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877908 NA NA 0.325849 0.092315 NA 0.283 NA 3.972751 1263 11 5566112 5566112 C T exonic OR52H1 NA synonymous SNV OR52H1:NM_001005289:exon1:c.G642A:p.T214T exonic ENSG00000181616 NA synonymous SNV ENSG00000181616:ENST00000322653:exon1:c.G642A:p.T214T NA NA 11p15.4 NA NA NA NA rs1995156 0.41 0.41 0.401 0.384185 0.5775 0.0853 0.5115 0.4614 0.2986 0.58 0.1 0.51 0.44 0.5111 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.318476 NA NA 0.605539 0.455702 NA 0.362 NA 3.9725276 1263 10 135085426 135085426 A G exonic ADAM8 NA synonymous SNV ADAM8:NM_001164490:exon10:c.T873C:p.C291C,ADAM8:NM_001109:exon11:c.T990C:p.C330C,ADAM8:NM_001164489:exon11:c.T990C:p.C330C exonic ENSG00000151651 NA synonymous SNV ENSG00000151651:ENST00000485491:exon10:c.T873C:p.C291C,ENSG00000151651:ENST00000415217:exon11:c.T990C:p.C330C,ENSG00000151651:ENST00000445355:exon11:c.T990C:p.C330C Score=530;Name=lod=190 NA 10q26.3 NA NA NA NA rs1131719 0.89 0.89 0.918 0.91893 0.8996 0.9286 0.8501 0.9932 0.8773 0.87 0.91 0.86 0.94 0.9017 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 0.878329 NA NA 0.893256 0.970949 ID=COSM427283;OCCURENCE=1(breast) 0.935 NA 3.9721106 1263 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 1263 21 43786512 43786512 C T intronic TFF1 NA NA NA intronic ENSG00000160182 NA NA NA NA NA 21q22.3 NA Name=CTCF,Pol2,c-Myc Name=4 NA rs225358 0.51 0.51 0.489 0.508786 0.6928 0.254 0.6686 0.4463 0.5532 0.68 0.23 0.67 0.46 0.6323 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 -0.807314 NA NA 0.70307 0.466182 NA 0.5 NA 3.97183 1263 14 55646435 55646435 T C intronic DLGAP5 NA NA NA intronic ENSG00000126787 NA NA NA NA NA 14q22.3 NA NA NA NA rs72718824 0.01 0.01 0.009 0.0117812 0.007 NA 0.0086 0.0227 0.0164 0.01 NA 0.01 0.03 0.011 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 0.000765 NA NA 0.010237 0.015895 NA 0.007 NA 3.971763 1263 5 128301742 128301742 A C UTR5 SLC27A6 NM_014031:c.-89A>C,NM_001017372:c.-89A>C NA NA UTR5 ENSG00000113396 ENST00000262462:c.-89A>C,ENST00000395266:c.-89A>C,ENST00000506176:c.-89A>C NA NA NA NA 5q23.3 NA NA NA NA rs2577540 0.24 0.24 0.22 0.205871 0.3618 0.0565 0.2522 0.1846 0.1953 0.36 0.06 0.31 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 0.10284 NA NA NA NA NA 0.138 NA 3.9715334 1263 17 56327999 56327999 A G intronic LPO NA NA NA intronic ENSG00000167419 NA NA NA NA NA 17q22 NA Name=HNF4A_(H-171),HNF4G_(SC-6558) NA NA rs7208924 0.33 0.33 0.334 0.348842 0.341 0.2381 0.219 0.4977 0.362 0.34 0.22 0.23 0.51 0.3465 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.211914 NA NA 0.341047 0.464594 NA 0.319 NA 3.971453 1263 19 18184317 18184317 G A intronic IL12RB1 NA NA NA intronic ENSG00000096996 NA NA NA NA NA 19p13.11 NA NA NA NA rs79972275 0.01 0.01 0.006 0.00559105 0.0129 NA 0.0086 NA 0.0092 0.02 NA 0.01 NA 0.0068 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 -0.476209 NA NA 0.009535 0.002043 NA NA NA 3.970765 1263 9 132623293 132623293 C T exonic USP20 NA synonymous SNV USP20:NM_001008563:exon7:c.C408T:p.D136D,USP20:NM_001110303:exon7:c.C408T:p.D136D,USP20:NM_006676:exon7:c.C408T:p.D136D exonic ENSG00000136878 NA synonymous SNV ENSG00000136878:ENST00000315480:exon7:c.C408T:p.D136D,ENSG00000136878:ENST00000358355:exon7:c.C408T:p.D136D,ENSG00000136878:ENST00000372429:exon7:c.C408T:p.D136D NA NA 9q34.11 NA NA Name=6 NA rs1503375 0.88 0.88 0.872 0.873403 0.9085 0.9831 0.9035 0.7337 0.8916 0.91 0.98 0.88 0.74 0.9009 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 0.495315 NA NA 0.886523 0.779489 NA 0.884 NA 3.9707436 1263 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 1263 10 113920465 113920465 G A exonic GPAM NA synonymous SNV GPAM:NM_001244949:exon16:c.C1656T:p.N552N,GPAM:NM_020918:exon16:c.C1656T:p.N552N exonic ENSG00000119927 NA synonymous SNV ENSG00000119927:ENST00000348367:exon16:c.C1656T:p.N552N,ENSG00000119927:ENST00000369425:exon16:c.C1656T:p.N552N,ENSG00000119927:ENST00000423155:exon16:c.C1656T:p.N552N NA NA 10q25.2 NA NA NA NA rs2277207 0.55 0.55 0.57 0.553514 0.5437 0.6002 0.4553 0.528 0.6196 0.54 0.58 0.46 0.57 0.566 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.137825 NA NA 0.586628 0.503404 NA 0.558 NA 3.9703386 1263 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 1263 10 91348352 91348352 T G intronic PANK1 NA NA NA intronic ENSG00000152782 NA NA NA NA NA 10q23.31 NA NA NA NA rs7913785 0.04 0.04 0.049 0.0519169 0.0298 0.004 0.0274 0.1089 0.0644 0.03 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 0.505896 NA NA NA NA NA 0.065 NA 3.9702 1263 20 62326579 62326579 G T ncRNA_intronic RTEL1-TNFRSF6B NA NA NA intronic ENSG00000026036,ENSG00000258366 NA NA NA NA NA 20q13.33 NA NA NA NA rs41309931 0.14 0.14 0.113 0.124002 0.1054 0.2232 0.2392 0.0098 0.1135 0.11 0.22 0.25 0.03 0.1403 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.828044 NA NA 0.117668 0.029899 NA 0.08 NA 3.9699653 1263 14 64494278 64494278 C T exonic SYNE2 NA synonymous SNV SYNE2:NM_015180:exon43:c.C6481T:p.L2161L,SYNE2:NM_182914:exon43:c.C6481T:p.L2161L exonic ENSG00000054654 NA synonymous SNV ENSG00000054654:ENST00000554584:exon42:c.C6481T:p.L2161L,ENSG00000054654:ENST00000344113:exon43:c.C6481T:p.L2161L,ENSG00000054654:ENST00000358025:exon43:c.C6481T:p.L2161L NA NA 14q23.2 NA NA NA NA rs10151127 0.8 0.8 0.782 0.751997 0.9056 0.8333 0.8833 0.4818 0.7822 0.9 0.87 0.89 0.5 0.8692 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 0.098173 NA NA 0.922228 0.564953 NA 0.761 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118543.1;CLNDSDB=.;CLNDSDBID=. 3.9696386 1263 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 1263 10 90983629 90983629 C T intronic LIPA NA NA NA intronic ENSG00000107798 NA NA NA NA NA 10q23.31 Score=868;Name=V$OCT1_06 NA NA NA rs1556478 0.46 0.46 0.417 0.454273 0.3201 0.752 0.4726 0.2874 0.498 0.34 0.79 0.44 0.29 0.3993 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 0.041722 NA NA 0.311279 0.285974 NA 0.391 NA 3.969321 1263 2 209315446 209315446 T C intronic PTH2R NA NA NA intronic ENSG00000144407 NA NA NA NA NA 2q34 NA NA NA NA rs114981244 NA NA NA 0.0453275 0.0308 NA 0.0274 0.1233 0.0143 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470627 NA NA NA NA NA NA NA 3.9692 1263 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 1263 X 70375023 70375023 G A intronic NLGN3 NA NA NA intronic ENSG00000196338 NA NA NA NA NA Xq13.1 NA NA NA NA rs185402974 0.01 0.01 NA NA NA NA NA NA NA 0.01 NA 0.01 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 0.318447 NA NA 0.019923 0.001565 NA 0.007 NA 3.969077 1263 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 1263 1 891620 891620 C A intronic NOC2L NA NA NA intronic ENSG00000188976 NA NA NA NA NA 1p36.33 NA NA NA NA rs192262159 0.0046 0.0046 NA 0.00279553 0.0089 NA 0.0058 0.0008 NA 0.01 NA 0.01 0.002 0.008 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 -0.088177 NA NA 0.014419 0.003177 NA NA NA 3.968681 1263 17 31352932 31352932 C T intronic ASIC2 NA NA NA intronic ENSG00000108684 NA NA NA NA NA 17q11.2 NA NA NA NA rs16967902 0.0041 0.0041 0.003 0.00459265 0.0109 NA 0.0159 0.0008 NA 0.01 NA 0.01 NA 0.0073 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 0.931229 NA NA 0.013256 0.002724 NA NA NA 3.968544 1263 6 133135886 133135886 A G UTR5 RPS12 NM_001016:c.-22A>G NA NA UTR5 ENSG00000112306 ENST00000230050:c.-22A>G NA NA NA NA 6q23.2 NA Name=Pol2,NFKB,Pol2-4H8,HEY1,Pol2(b),PAX5-N19 NA NA rs9483504 0.52 0.52 0.517 0.549321 0.4354 0.3135 0.6354 0.7791 0.5378 0.43 0.31 0.64 0.79 0.4872 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 0.530945 NA NA 0.442442 0.709033 NA 0.486 NA 3.9682914 1263 1 204507128 204507128 T C intronic MDM4 NA NA NA intronic ENSG00000198625 NA NA NA NA NA 1q32.1 NA NA NA NA rs72753803 0.0037 0.0037 NA 0.00399361 0.0109 NA 0.0043 0.0008 0.0051 0.01 NA NA NA 0.0093 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 -0.808206 NA NA 0.011803 0.000571 NA 0.007 NA 3.967997 1263 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 1263 1 981931 981931 A G exonic AGRN NA synonymous SNV AGRN:NM_198576:exon18:c.A3066G:p.S1022S exonic ENSG00000188157 NA synonymous SNV ENSG00000188157:ENST00000379370:exon18:c.A3066G:p.S1022S NA NA 1p36.33 NA NA NA NA rs2465128 0.82 0.82 0.788 0.797724 0.9125 0.9633 0.8905 0.4554 0.9059 0.91 0.96 0.9 0.45 0.8767 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 -1.055469 NA NA 0.909821 0.526843 ID=COSM1126908;OCCURENCE=1(prostate) 0.196 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116259.1;CLNDSDB=.;CLNDSDBID=. 3.9676456 1263 17 28381141 28381141 C G exonic EFCAB5 NA synonymous SNV EFCAB5:NM_001145053:exon10:c.C2001G:p.T667T,EFCAB5:NM_198529:exon10:c.C2169G:p.T723T exonic ENSG00000176927 NA synonymous SNV ENSG00000176927:ENST00000419434:exon7:c.C1587G:p.T529T,ENSG00000176927:ENST00000541045:exon9:c.C1140G:p.T380T,ENSG00000176927:ENST00000320856:exon10:c.C2169G:p.T723T,ENSG00000176927:ENST00000378738:exon10:c.C2169G:p.T723T,ENSG00000176927:ENST00000394832:exon10:c.C2169G:p.T723T,ENSG00000176927:ENST00000394835:exon10:c.C2169G:p.T723T,ENSG00000176927:ENST00000440741:exon10:c.C2169G:p.T723T,ENSG00000176927:ENST00000536908:exon10:c.C2001G:p.T667T NA NA 17q11.2 NA NA NA NA rs4074170 0.55 0.55 0.583 0.570887 0.5656 0.2917 0.4669 0.9327 0.4489 0.55 0.29 0.48 0.91 0.5915 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 -0.537717 NA NA 0.542298 0.862877 NA 0.471 NA 3.9672686 1263 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 1263 10 13693883 13693883 C T intronic FRMD4A NA NA NA intronic ENSG00000151474,ENSG00000239665 NA NA NA Score=689;Name=lod=844 NA 10p13 NA NA NA NA rs11258499 0.36 0.36 0.344 0.320487 0.3449 0.7173 0.2118 0.0257 0.362 0.36 0.72 0.21 0.05 0.3447 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.844584 NA NA 0.343256 0.077848 NA 0.333 NA 3.967144 1263 19 22157302 22157302 G A exonic ZNF208 NA synonymous SNV ZNF208:NM_007153:exon4:c.C534T:p.Y178Y exonic ENSG00000160321 NA synonymous SNV ENSG00000160321:ENST00000397126:exon4:c.C534T:p.Y178Y NA NA 19p12 NA NA NA NA rs10419899 0.63 0.63 0.636 0.572284 0.5726 0.6925 0.6326 0.6233 0.3364 0.58 0.71 0.57 0.65 0.558 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.706184 NA NA 0.569092 0.642051 NA 0.688 NA 3.9669746 1263 11 67192107 67192107 T A UTR3 CARNS1 NM_001166222:c.*35T>A,NM_020811:c.*35T>A NA NA UTR3 ENSG00000172508 ENST00000423745:c.*35T>A,ENST00000307823:c.*35T>A,ENST00000531040:c.*35T>A,ENST00000445895:c.*35T>A NA NA NA NA 11q13.2 NA NA NA NA rs1790748 0.35 0.35 0.344 0.359625 0.0835 0.2887 0.4063 0.8298 0.0481 0.09 0.3 0.32 0.81 0.2097 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 -2.730415 NA NA 0.073304 0.619482 NA 0.377 NA 3.9668294 1263 17 4638484 4638484 T C exonic CXCL16 NA synonymous SNV CXCL16:NM_001100812:exon4:c.A678G:p.P226P,CXCL16:NM_022059:exon4:c.A678G:p.P226P exonic ENSG00000161921 NA synonymous SNV ENSG00000161921:ENST00000293778:exon4:c.A678G:p.P226P,ENSG00000161921:ENST00000574412:exon4:c.A678G:p.P226P NA NA 17p13.2 NA NA NA NA rs1876444 0.53 0.53 0.515 0.530751 0.5765 0.5933 0.5764 0.3555 0.6237 0.58 0.6 0.55 0.38 0.5576 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27648 NA NA 0.565814 0.389696 ID=COSM148159;OCCURENCE=1(stomach) 0.478 NA 3.9667526 1263 19 42873169 42873169 G A intronic MEGF8 NA NA NA intronic ENSG00000105429 NA NA NA NA NA 19q13.2 NA NA NA NA rs118098511 0.0032 0.0032 0 0.00379393 0.007 NA NA 0.003 0.0082 0.01 NA NA 0.0041 0.0107 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 -1.138903 NA NA 0.015698 0.003177 NA 0.007 NA 3.966602 1263 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 1263 1 158988463 158988463 G A intronic IFI16 NA NA NA intronic ENSG00000163565 NA NA NA NA NA 1q23.1 NA NA NA NA rs41264055 0.01 0.01 0.016 0.00958466 0.0109 0.0218 0.0086 NA 0.0092 0.01 0.03 0.02 NA 0.0112 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 -0.894194 NA NA 0.011401 0.002498 NA NA NA 3.966499 1263 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 1263 3 168849156 168849156 C T intronic MECOM NA NA NA intronic ENSG00000085276 NA NA NA NA NA 3q26.2 NA NA NA NA rs17546631 0.01 0.01 0.005 0.00678914 0.0129 NA 0.0072 0.0038 0.0112 0.01 NA 0.0028 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 -0.614038 NA NA 0.020742 0.003613 NA 0.022 NA 3.966358 1263 12 57594980 57594980 C T intronic LRP1 NA NA NA intronic ENSG00000123384 NA NA NA NA NA 12q13.3 NA NA NA NA rs34949484 0.01 0.01 0.006 0.00399361 0.0139 NA 0.0058 NA 0.002 0.01 NA 0.01 NA 0.007 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 -0.524716 NA NA 0.012791 0.002497 NA 0.007 NA 3.966309 1263 11 48632385 48632385 T C intergenic OR4A47,TRIM49B dist=121111;dist=420767 NA NA ncRNA_exonic ENSG00000254674 NA NA NA NA NA 11p11.2 NA NA NA NA rs111602464 0.02 0.02 0.022 0.0241613 0.0338 0.001 0.0086 0.0575 0.0041 0.04 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 -1.163722 NA NA NA NA NA 0.022 NA 3.9662 1263 8 19816934 19816934 T C intronic LPL NA NA NA intronic ENSG00000175445 NA NA NA NA Name=Metabolic syndrome (bivariate traits) 8p21.3 NA NA NA NA rs301 0.42 0.42 0.26 0.381989 0.4592 0.4911 0.3617 0.3684 0.2229 0.43 0.46 0.41 0.39 0.2566 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.481183 NA NA 0.318488 0.385157 NA 0.174 NA 3.965712 1263 11 1161315 1161315 T C intergenic MUC2,MUC5B dist=56898;dist=82980 NA NA exonic ENSG00000215182 NA nonsynonymous SNV ENSG00000215182:ENST00000534821:exon12:c.T1490C:p.V497A,ENSG00000215182:ENST00000356191:exon17:c.T1481C:p.V494A NA NA 11p15.5 NA NA NA NA rs28403537 0.98 0.98 0.98 0.978634 0.9583 0.999 0.9654 1 0.9591 0.96 1 0.95 1 0.9479 1 0.72 T . . . . . . . . . . 2.32 T -0.954 T 0.000 T 0.09 0.728 7.868 1.24 -0.283 2.455 8.239 0.727513 NA 0.71 0.961468 0.992938 NA 0.986 NA 3.9656654 1263 3 69112092 69112092 C T intronic UBA3 NA NA NA intronic ENSG00000144744 NA NA NA NA NA 3p14.1 NA NA NA NA rs146561403 0.0041 0.0041 0.004 0.00399361 0.0119 0.001 0.0029 0.0015 0.0031 0.01 NA NA 0.002 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 -0.054686 NA NA 0.015349 0.001362 NA 0.007 NA 3.965251 1263 5 112155068 112155068 G A intronic APC NA NA NA intronic ENSG00000134982 NA NA NA NA NA 5q22.2 NA NA NA NA rs74975092 0.01 0.01 0.004 0.00399361 0.0149 NA 0.0058 NA 0.001 0.02 NA 0.0028 NA 0.0088 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 0.346101 NA NA 0.011279 0.001817 NA 0.007 NA 3.965021 1264 7 2296696 2296696 C A intronic SNX8 NA NA NA intronic ENSG00000106266 NA NA NA NA NA 7p22.3 NA Name=ZNF263 NA NA rs2302071 0.29 0.29 0.309 0.297724 0.3469 0.1905 0.232 0.4115 0.2505 0.36 0.19 0.23 0.35 0.3372 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444913 NA NA 0.351094 0.37693 NA 0.275 NA 3.964806 1264 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 1264 20 257658 257658 G A intronic C20orf96 NA NA NA intronic ENSG00000196476 NA NA NA NA NA 20p13 NA NA NA NA rs45503891 0.01 0.01 0.001 0.00439297 0.0139 NA 0.0072 NA 0.0031 0.01 NA 0.01 NA 0.0085 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 0.084481 NA NA 0.013256 0.002043 NA NA NA 3.964344 1264 8 40389760 40389760 A G intronic ZMAT4 NA NA NA intronic ENSG00000165061 NA NA NA NA NA 8p11.21 NA NA NA NA rs76382867 0.01 0.01 0.004 0.00479233 0.0169 NA 0.0058 NA 0.0031 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 0.071526 NA NA 0.009767 0.001362 NA NA NA 3.964333 1264 10 104136212 104136212 A G intronic GBF1 NA NA NA intronic ENSG00000107862 NA NA NA NA NA 10q24.32 NA NA NA NA rs150990327 0.01 0.01 0.004 0.00279553 0.0129 NA 0.0014 NA NA 0.02 NA 0.0028 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 -0.375404 NA NA 0.011047 0.000908 NA NA NA 3.964253 1264 8 136554865 136554865 A C intronic KHDRBS3 NA NA NA intronic ENSG00000131773 NA NA NA NA NA 8q24.23 NA NA NA NA rs117850131 0.0041 0.0041 0.005 0.00239617 0.0119 NA NA NA NA 0.01 NA NA NA 0.0096 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 -0.034098 NA NA 0.014535 0.003177 NA NA NA 3.963965 1264 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 1264 19 43411067 43411067 C A intronic PSG6 NA NA NA intronic ENSG00000170848 NA NA NA NA NA 19q13.31 NA NA NA NA rs143523888 0.0041 0.0041 0.005 0.00439297 0.008 NA NA 0.0015 0.0123 0.01 NA NA 0.0041 0.0112 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 0.117542 NA NA 0.017097 0.00318 NA 0.007 NA 3.963703 1264 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 1264 15 62950154 62950154 G C intronic TLN2 NA NA NA intronic ENSG00000171914 NA NA NA NA NA 15q22.2 NA NA NA NA rs74652258 0.04 0.04 0.035 0.0591054 0.0368 0.001 0.0159 0.1422 0.0603 0.03 0.0017 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 -0.629816 NA NA NA NA NA 0.022 NA 3.9632 1264 10 102248968 102248968 G A intronic SEC31B NA NA NA intronic ENSG00000075826 NA NA NA NA NA 10q24.31 NA NA NA NA rs147197387 0.01 0.01 0.004 0.00439297 0.0089 NA 0.0086 NA 0.0072 0.01 NA 0.01 NA 0.0117 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 0.753584 NA NA 0.016519 0.001589 NA NA NA 3.962881 1264 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 1264 19 6416724 6416724 A G intronic KHSRP NA NA NA intronic ENSG00000088247 NA NA NA NA NA 19p13.3 NA NA NA NA rs201923567 NA NA 0.002 0.00858626 0.0119 NA 0.0029 NA 0.0297 NA NA NA NA 0.0158 0.0095 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.107364 NA NA 0.009508 0.001223 NA NA NA 3.962792 1264 8 143746069 143746069 T C exonic JRK NA synonymous SNV JRK:NM_001077527:exon3:c.A1407G:p.P469P,JRK:NM_003724:exon3:c.A1407G:p.P469P ncRNA_exonic ENSG00000234616 NA NA NA NA NA 8q24.3 NA NA NA NA rs3735999 0.5 0.5 0.472 0.532348 0.3926 0.5188 0.3213 0.7171 0.59 0.41 0.52 0.36 0.71 0.4325 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116991 NA NA 0.379087 0.623335 NA 0.326 NA 3.9624796 1264 16 27238034 27238034 C T intronic NSMCE1 NA NA NA intronic ENSG00000169189 NA NA NA NA NA 16p12.1 NA NA Name=9 NA rs34940876 0.33 0.33 0.346 0.316094 0.3519 0.4663 0.2334 0.1747 0.3742 0.35 0.47 0.25 0.19 0.3415 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.623122 NA NA 0.34426 0.187469 NA 0.283 NA 3.96234 1264 22 36912459 36912459 G A intronic EIF3D NA NA NA intronic ENSG00000100353 NA NA NA NA NA 22q12.3 NA NA NA NA rs16996838 0.05 0.05 0.049 0.0609026 0.0378 0.002 0.0476 0.1225 0.0716 0.03 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 -0.077475 NA NA NA NA NA 0.043 NA 3.9622 1264 19 12826192 12826192 T C intronic TNPO2 NA NA NA intronic ENSG00000105576 NA NA NA NA NA 19p13.2 NA NA NA NA rs138458538 0.01 0.01 0.005 0.019369 0.0089 0.0337 0.0043 0.0008 0.0511 0.01 0.04 0.01 0.002 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 -1.773374 NA NA 0.011154 0.001796 NA 0.014 NA 3.961646 1264 19 6416725 6416725 T C intronic KHSRP NA NA NA intronic ENSG00000088247 NA NA NA NA NA 19p13.3 NA NA NA NA rs74489818 0.01 0.01 0.002 0.00858626 0.0119 NA 0.0029 NA 0.0297 0.01 NA 0.0028 NA 0.0159 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 -0.148371 NA NA 0.010578 0.001224 NA NA NA 3.961622 1264 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 1264 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 1264 11 118898324 118898324 G A intronic SLC37A4 NA NA NA intronic ENSG00000137700 NA NA NA NA NA 11q23.3 NA NA NA NA rs56394886 0.02 0.02 0.008 0.0181709 0.0109 0.0575 0.0101 0.0015 0.0133 0.01 0.05 0.01 0.0041 0.0177 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 -0.955348 NA NA 0.01026 0.003175 NA 0.029 NA 3.96114 1264 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 1264 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 1264 9 17409366 17409366 G A exonic CNTLN NA synonymous SNV CNTLN:NM_017738:exon16:c.G2691A:p.T897T exonic ENSG00000044459 NA synonymous SNV ENSG00000044459:ENST00000262360:exon16:c.G2691A:p.T897T,ENSG00000044459:ENST00000380647:exon16:c.G2691A:p.T897T,ENSG00000044459:ENST00000425824:exon16:c.G2691A:p.T897T Score=321;Name=lod=27 NA 9p22.2 NA NA NA NA rs2780211 0.83 0.83 0.821 0.838858 0.9205 0.8304 0.8545 0.7587 0.8609 0.92 0.78 0.86 0.73 0.8747 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 0.772216 NA NA 0.911498 0.776707 NA 0.848 NA 3.9599686 1264 17 3119008 3119008 T C exonic OR1A1 NA synonymous SNV OR1A1:NM_014565:exon1:c.T94C:p.L32L exonic ENSG00000172146 NA synonymous SNV ENSG00000172146:ENST00000304094:exon1:c.T94C:p.L32L Score=321;Name=lod=27 NA 17p13.3 NA NA NA NA rs4325604 0.82 0.82 0.835 0.827276 0.9125 0.7421 0.719 0.8268 0.9049 0.91 0.72 0.78 0.83 0.8665 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 0.11424 NA NA 0.928605 0.83704 NA 0.841 NA 3.9590616 1264 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 1264 16 88644005 88644005 A G exonic ZC3H18 NA synonymous SNV ZC3H18:NM_144604:exon2:c.A474G:p.K158K exonic ENSG00000158545 NA synonymous SNV ENSG00000158545:ENST00000301011:exon2:c.A474G:p.K158K,ENSG00000158545:ENST00000452588:exon2:c.A474G:p.K158K Score=325;Name=lod=28 NA 16q24.2 NA NA NA NA rs899728 0.9 0.9 0.886 0.862819 0.9105 0.9405 0.9179 0.8472 0.7157 0.91 0.94 0.91 0.85 0.8917 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 -0.914308 NA NA 0.90593 0.854868 NA 0.891 NA 3.9585366 1264 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 1264 17 8808966 8808966 C T intronic PIK3R5 NA NA NA intronic ENSG00000141506 NA NA NA NA NA 17p13.1 NA NA NA NA rs113379742 0.01 0.01 0.005 0.00399361 0.0119 0.001 0.0072 NA 0.002 0.01 NA 0.01 NA 0.0181 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 1.529962 1.529962 NA 0.011766 0.00342 NA 0.058 NA 3.958234 1264 19 40890052 40890052 G A intronic HIPK4 NA NA NA intronic ENSG00000160396 NA NA NA NA NA 19q13.2 NA NA NA NA rs56003460 0.03 0.03 0.01 0.0233626 0.0099 NA 0.1427 0.0023 0.0051 0.01 NA 0.15 0.01 0.0279 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.351357 NA NA 0.004188 0.002501 NA 0.022 NA 3.958012 1264 X 153633359 153633359 G C exonic DNASE1L1 NA synonymous SNV DNASE1L1:NM_001009934:exon3:c.C201G:p.P67P,DNASE1L1:NM_006730:exon3:c.C201G:p.P67P,DNASE1L1:NM_001009933:exon4:c.C201G:p.P67P,DNASE1L1:NM_001009932:exon5:c.C201G:p.P67P exonic ENSG00000013563 NA synonymous SNV ENSG00000013563:ENST00000369807:exon3:c.C201G:p.P67P,ENSG00000013563:ENST00000369808:exon3:c.C201G:p.P67P,ENSG00000013563:ENST00000393638:exon3:c.C201G:p.P67P,ENSG00000013563:ENST00000451865:exon3:c.C201G:p.P67P,ENSG00000013563:ENST00000014935:exon4:c.C201G:p.P67P,ENSG00000013563:ENST00000309585:exon4:c.C201G:p.P67P,ENSG00000013563:ENST00000369809:exon5:c.C201G:p.P67P,ENSG00000013563:ENST00000424626:exon5:c.C201G:p.P67P NA NA Xq28 NA NA NA NA rs1130929 0.73 0.73 0.71304 NA NA NA NA NA NA 0.91 0.9 0.78 0.24 0.8193 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 -1.201403 NA NA 0.889715 0.314211 NA 0.529 NA 3.9576516 1264 1 23885599 23885599 T C intronic ID3 NA NA NA intronic ENSG00000117318 NA NA NA NA NA 1p36.12 NA Name=Pol2,ZEB1_(SC-25388) 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 1264 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 1264 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 1264 15 76646271 76646271 C T intronic SCAPER NA NA NA intronic ENSG00000140386 NA NA NA NA NA 15q24.3 NA NA NA NA rs117738772 0.01 0.01 0.011 0.00459265 0.0179 NA 0.0058 0.0008 NA 0.02 NA 0.0028 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 0.056922 NA NA 0.013788 0.004195 NA NA NA 3.956712 1264 11 3128945 3128945 G A intronic OSBPL5 NA NA NA intronic ENSG00000021762 NA NA NA NA NA 11p15.4 NA NA NA NA rs58961916 0.07 0.07 0.091 0.109625 0.0437 0.0208 0.0259 0.2269 0.1697 0.04 0.02 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 -0.334364 NA NA NA NA NA 0.101 NA 3.9563 1264 11 34474518 34474518 T G intronic CAT NA NA NA intronic ENSG00000121691 NA NA NA NA NA 11p13 NA NA NA NA rs17268652 0.02 0.02 0.012 0.0129792 0.0437 NA 0.0245 0.0023 0.001 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 0.530264 NA NA NA NA NA 0.007 NA 3.9563 1264 16 70497466 70497466 C T intronic FUK NA NA NA intronic ENSG00000157353 NA NA NA NA NA 16q22.1 NA NA NA NA rs17880218 0.02 0.02 0.012 0.0115815 0.0437 NA 0.0086 0.0008 0.0072 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 0.155162 NA NA NA NA NA 0.007 NA 3.9563 1264 19 52627120 52627120 G A intronic ZNF616 NA NA NA intronic ENSG00000204611 NA NA NA NA NA 19q13.41 NA NA NA NA rs75173089 0.07 0.07 0.057 0.0782748 0.0437 0.0119 0.0403 0.1952 0.0511 0.04 0.01 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 -0.513266 NA NA NA NA NA 0.043 NA 3.9563 1264 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 1264 19 6420497 6420497 G A intronic KHSRP NA NA NA intronic ENSG00000088247 NA NA NA NA NA 19p13.3 NA NA NA NA rs74790427 0.01 0.01 0.002 0.00858626 0.0119 NA 0.0029 NA 0.0297 0.01 NA 0.0028 NA 0.0148 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 -0.234359 NA NA 0.017327 0.002404 NA NA NA 3.955973 1264 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 1264 19 16797270 16797270 C T intronic TMEM38A NA NA NA intronic ENSG00000072954 NA NA NA NA NA 19p13.11 NA NA NA NA rs73518943 0.08 0.08 0.086 0.102835 0.0447 0.0149 0.0375 0.2753 0.0665 0.05 0.02 0.04 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 -0.398417 NA NA NA NA NA 0.109 NA 3.9553 1264 12 69114871 69114871 A G intronic NUP107 NA NA NA intronic ENSG00000111581 NA NA NA NA NA 12q15 NA NA NA NA rs142881842 0.01 0.01 0.004 0.00738818 0.0179 NA 0.0043 NA 0.0164 0.02 NA 0.01 NA 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 1.935116 1.935116 NA 0.01518 0.002498 NA NA NA 3.95522 1264 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 1265 11 124095414 124095414 C G exonic OR8G2 NA nonsynonymous SNV OR8G2:NM_001007249:exon1:c.C17G:p.S6C upstream ENSG00000181214 NA NA NA NA NA 11q24.2 NA NA NA NA rs10893172 0.39 0.39 0.41 0.45008 0.337 0.3165 0.3429 0.6127 0.5603 0.35 0.3 0.34 0.61 0.3828 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515247 NA NA 0.325291 0.542216 NA 0.514 NA 3.954909 1265 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 1265 19 6420068 6420068 C T intronic KHSRP NA NA NA intronic ENSG00000088247 NA NA NA NA NA 19p13.3 NA NA NA NA rs117786289 0.01 0.01 0.001 0.00858626 0.0119 NA 0.0029 NA 0.0297 0.01 NA 0.0028 NA 0.0158 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 -0.814164 NA NA 0.017557 0.002425 NA NA NA 3.954743 1265 7 14775823 14775823 G C intronic DGKB NA NA NA intronic ENSG00000136267 NA NA NA NA NA 7p21.2 NA NA NA NA rs56288033 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0454 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 1.102461 NA NA NA NA NA 0.051 NA 3.9546 1265 14 94423068 94423068 G C intronic ASB2 NA NA NA intronic ENSG00000100628 NA NA NA NA NA 14q32.12 NA NA NA NA rs78195077 NA NA NA 0.00439297 0.0129 NA 0.0101 0.0008 0.001 NA NA NA NA 0.0118 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 0.040892 NA NA 0.020814 0.003858 NA 0.014 NA 3.954486 1265 2 216964565 216964565 C G intronic TMEM169 NA NA NA intronic ENSG00000163449 NA NA NA NA NA 2q35 NA NA NA NA rs114182041 0.03 0.03 0.024 0.0163738 0.0457 NA 0.0403 0.003 0.0041 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 0.23249 NA NA NA NA NA 0.022 NA 3.9543 1265 2 158157361 158157361 C T exonic GALNT5 NA synonymous SNV GALNT5:NM_014568:exon7:c.C2289T:p.H763H exonic ENSG00000136542 NA synonymous SNV ENSG00000136542:ENST00000259056:exon7:c.C2289T:p.H763H NA NA 2q24.1 NA NA Name=6 NA rs3214040 0.8 0.8 0.81 0.798922 0.9264 0.8403 0.8012 0.5734 0.9284 0.92 0.83 0.8 0.59 0.8651 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 0.48167 NA NA 0.921047 0.628461 NA 0.826 NA 3.9541196 1265 5 140553856 140553856 G A exonic PCDHB7 NA synonymous SNV PCDHB7:NM_018940:exon1:c.G1440A:p.S480S exonic ENSG00000113212 NA synonymous SNV ENSG00000113212:ENST00000231137:exon1:c.G1440A:p.S480S NA NA 5q31.3 NA NA NA NA rs2907330 0.61 0.61 0.598 0.627596 0.5487 0.6607 0.6369 0.6891 0.5849 0.55 0.66 0.58 0.68 0.5944 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.767261 NA NA 0.569535 0.665229 NA 0.558 NA 3.9540316 1265 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 1265 X 2936750 2936750 C T intronic ARSH NA NA NA intronic ENSG00000205667 NA NA NA NA NA Xp22.33 NA NA NA NA rs144599224 0.01 0.01 0.0133 NA NA NA NA NA NA 0.02 NA 0.0036 NA 0.0187 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 -1.206575 NA NA 0.027646 0.00339 NA 0.007 NA 3.953654 1265 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 1265 19 19606848 19606848 C T intronic GATAD2A NA NA NA intronic ENSG00000167491 NA NA NA NA NA 19p13.11 NA NA NA NA rs73002973 0.01 0.01 0.004 0.0123802 0.0109 0.001 0.0043 0.0015 0.046 0.01 0.0017 0.01 NA 0.0159 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 -0.681135 NA NA 0.019651 0.004085 NA 0.036 NA 3.953549 1265 17 39987130 39987130 T C exonic NT5C3B NA synonymous SNV NT5C3B:NM_052935:exon6:c.A327G:p.A109A exonic ENSG00000141698 NA synonymous SNV ENSG00000141698:ENST00000486304:exon1:c.A3G:p.A1A,ENSG00000141698:ENST00000521789:exon5:c.A228G:p.A76A,ENSG00000141698:ENST00000269534:exon6:c.A303G:p.A101A,ENSG00000141698:ENST00000435506:exon6:c.A327G:p.A109A NA NA 17q21.2 Score=814;Name=V$HNF4_01 NA NA NA rs4796712 0.9 0.9 0.897 0.917332 0.8877 1 0.9366 0.8374 0.9571 0.88 1 0.91 0.82 0.9179 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.084891 NA NA 0.907674 0.852928 NA 0.935 NA 3.9533926 1265 2 206592573 206592573 G A intronic NRP2 NA NA NA intronic ENSG00000118257 NA NA NA NA NA 2q33.3 NA NA NA NA rs147233538 0.01 0.01 0.004 0.00359425 0.0149 NA 0.0014 NA 0.002 0.02 NA 0.0028 NA 0.0173 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 -0.068724 NA NA 0.014651 0.003404 NA NA NA 3.953149 1265 14 75376232 75376232 A C intronic RPS6KL1 NA NA NA intronic ENSG00000198208 NA NA NA NA NA 14q24.3 NA NA NA NA rs148616967 0.01 0.01 0.006 0.00638978 0.0139 NA 0.0159 0.0015 0.0051 0.02 NA 0.02 0.002 0.0148 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 2.210915 2.210915 NA 0.018163 0.005731 NA NA NA 3.953137 1265 21 46924322 46924322 G A intronic COL18A1 NA NA NA intronic ENSG00000173638,ENSG00000182871 NA NA NA NA NA 21q22.3 NA NA NA NA rs116618591 0.01 0.01 0.017 0.0165735 0.0169 0.001 0.0086 0.0182 0.0358 0.01 0.0017 0.01 0.03 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 -0.623466 NA NA 0.011097 0.01779 NA 0.007 NA 3.952903 1265 12 109924385 109924385 C A intronic UBE3B NA NA NA intronic ENSG00000151148 NA NA NA NA NA 12q24.11 NA NA NA NA rs185361641 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.099092 NA NA NA NA ID=COSM1605550;OCCURENCE=1(liver) NA NA 3.9527 1265 13 32660137 32660137 T G intronic FRY NA NA NA intronic ENSG00000073910 NA NA NA NA NA 13q13.1 NA NA NA NA rs423932 0.64 0.64 0.633 0.645168 0.6789 0.4831 0.6398 0.708 0.6963 0.69 0.5 0.64 0.72 0.6709 0.72 0 D . . . . . . 1.000 P . . . . -1.000 T 0.000 T . 0.1 4.538 0.238 -0.216 0.460 1.540 0.099928 NA 0.98 0.697639 0.687215 NA 0.652 NA 3.952561 1265 2 71429725 71429725 T C UTR5 PAIP2B NM_020459:c.-6A>G NA NA UTR5 ENSG00000124374 ENST00000244221:c.-6A>G NA NA NA NA 2p13.3 NA NA NA NA rs56871884 0.1 0.1 0.092 0.0996406 0.1451 0.001 0.0533 0.1694 0.093 0.15 NA 0.07 0.14 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 1.012259 NA NA 0.123933 0.145573 NA 0.123 NA 3.9525004 1265 12 22486784 22486784 G A intronic ST8SIA1 NA NA NA intronic ENSG00000111728 NA NA NA NA NA 12p12.1 NA NA NA NA rs73089246 0.05 0.05 0.059 0.0634984 0.0099 NA 0.0231 0.2163 0.0061 0.01 NA 0.02 0.19 0.0248 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 2.595367 2.595367 NA 0.012808 0.179795 NA 0.145 NA 3.952492 1265 1 17949454 17949454 G A intronic ARHGEF10L NA NA NA intronic ENSG00000074964 NA NA NA NA NA 1p36.13 NA NA NA NA rs56127204 0.01 0.01 0.002 0.0127796 0.0159 NA 0.0216 0.003 0.0297 0.01 NA 0.02 0.0041 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 0.393331 NA NA 0.016468 0.003188 NA NA NA 3.951332 1265 3 53906334 53906334 C A intronic ACTR8 NA NA NA intronic ENSG00000113812 NA NA NA NA NA 3p21.1 NA NA NA NA rs2289204 0.12 0.12 0.097 0.147165 0.0487 0.247 0.1095 0.121 0.2076 0.05 0.22 0.07 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 0.443256 NA NA NA NA NA 0.109 NA 3.9513 1265 16 427516 427516 T C exonic TMEM8A NA synonymous SNV TMEM8A:NM_021259:exon3:c.A369G:p.V123V exonic ENSG00000129925 NA synonymous SNV ENSG00000129925:ENST00000431232:exon3:c.A369G:p.V123V NA NA 16p13.3 NA NA NA NA rs11649031 0.53 0.53 0.528 0.570887 0.5437 0.3036 0.4885 0.736 0.7096 0.54 0.29 0.52 0.78 0.6042 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 -0.748671 NA NA 0.567467 0.715691 ID=COSM435248;OCCURENCE=1(breast),1(large_intestine) 0.486 NA 3.9512996 1265 16 89294184 89294184 G A exonic ZNF778 NA synonymous SNV ZNF778:NM_182531:exon6:c.G1404A:p.A468A,ZNF778:NM_001201407:exon7:c.G1488A:p.A496A exonic ENSG00000170100 NA synonymous SNV ENSG00000170100:ENST00000306502:exon5:c.G1278A:p.A426A,ENSG00000170100:ENST00000433976:exon6:c.G1404A:p.A468A NA NA 16q24.3 NA Name=SETDB1,PAX5-C20 NA NA rs4785627 0.83 0.83 0.812 0.76877 0.9254 0.8948 0.9063 0.4962 0.7485 0.93 0.91 0.91 0.54 0.8668 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 0.575372 NA NA 0.923202 0.576853 NA 0.804 NA 3.9512646 1265 16 76509948 76509948 C T intronic CNTNAP4 NA NA NA intronic ENSG00000152910 NA NA NA NA NA 16q23.1 NA NA NA NA rs9935035 0.03 0.03 0.041 0.0579073 0.007 0.004 0.0101 0.1286 0.1043 0.01 NA 0.01 0.14 0.0323 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.115213 NA NA 0.009651 0.100318 NA 0.058 NA 3.951049 1265 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 1265 16 89294511 89294511 C T exonic ZNF778 NA synonymous SNV ZNF778:NM_182531:exon6:c.C1731T:p.T577T,ZNF778:NM_001201407:exon7:c.C1815T:p.T605T exonic ENSG00000170100 NA synonymous SNV ENSG00000170100:ENST00000306502:exon5:c.C1605T:p.T535T,ENSG00000170100:ENST00000433976:exon6:c.C1731T:p.T577T NA NA 16q24.3 NA Name=SETDB1 NA NA rs28638280 0.83 0.83 0.813 0.76857 0.9254 0.8948 0.9063 0.4955 0.7485 0.93 0.91 0.91 0.54 0.8672 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 -0.330919 NA NA 0.923435 0.577818 NA 0.804 NA 3.9506316 1265 1 220771657 220771657 C T intronic MARK1 NA NA NA intronic ENSG00000116141 NA NA NA NA NA 1q41 NA NA NA NA rs17584607 0.01 0.01 0.003 0.00658946 0.0149 NA 0.013 0.0008 0.0082 0.01 NA 0.01 0.0041 0.0169 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 2.711541 2.711541 NA 0.017866 0.002629 NA 0.036 NA 3.950334 1265 1 158813819 158813819 A G exonic MNDA NA synonymous SNV MNDA:NM_002432:exon4:c.A477G:p.P159P exonic ENSG00000163563 NA synonymous SNV ENSG00000163563:ENST00000368141:exon4:c.A477G:p.P159P NA NA 1q23.1 NA NA NA NA rs857870 0.54 0.54 0.5 0.528155 0.5825 0.6954 0.5447 0.3071 0.5869 0.59 0.69 0.52 0.29 0.5601 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 -0.317862 NA NA 0.573953 0.369496 NA 0.536 NA 3.9501136 1265 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 1265 9 17394996 17394996 T C exonic CNTLN NA synonymous SNV CNTLN:NM_017738:exon15:c.T2544C:p.H848H exonic ENSG00000044459 NA synonymous SNV ENSG00000044459:ENST00000262360:exon15:c.T2544C:p.H848H,ENSG00000044459:ENST00000380647:exon15:c.T2544C:p.H848H,ENSG00000044459:ENST00000425824:exon15:c.T2544C:p.H848H Score=885;Name=lod=5268 NA 9p22.2 NA NA NA NA rs3739489 0.83 0.83 0.816 0.841054 0.9225 0.8323 0.8501 0.7451 0.8896 0.92 0.78 0.85 0.72 0.8799 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 0.006352 NA NA 0.914901 0.787701 NA 0.855 NA 3.9493656 1265 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 1265 5 16690033 16690033 A C intronic MYO10 NA NA NA intronic ENSG00000145555 NA NA NA NA NA 5p15.1 NA NA NA NA rs2303704 0.04 0.04 0.032 0.0441294 0.0099 0.119 0.0101 0.0061 0.0777 0.01 0.11 0.01 0.01 0.0301 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 1.349893 1.349893 NA 0.010864 0.011183 NA 0.065 NA 3.949136 1265 12 7362449 7362449 A G intronic PEX5 NA NA NA intronic ENSG00000139197 NA NA NA NA NA 12p13.31 NA NA NA NA rs116873137 0.01 0.01 0.008 0.00738818 0.0219 0.001 0.0115 0.0015 0.0041 0.02 NA 0.01 0.002 0.0099 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 -0.160835 NA NA 0.019186 0.003631 NA 0.014 NA 3.949014 1265 8 30601805 30601805 C T intronic UBXN8 NA NA NA ncRNA_exonic ENSG00000104691 NA NA NA NA NA 8p12 NA Name=ELF1_(SC-631),ETS1,GABP,HA-E2F1,USF2,Pol2,USF-1,GTF2F1_(RAP-74),YY1,ELK4,TBP,Mxi1_(bHLH),PAX5-C20,Sin3Ak-20,eGFP-JunD,SIX5,c-Myc,Max,YY1_(C-20) Name=148 NA rs2278092 0.65 0.65 0.611 0.578874 0.8221 0.8036 0.7219 0.1172 0.6196 0.84 0.79 0.74 0.14 0.7414 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 1.180833 NA NA 0.820912 0.257201 NA 0.543 NA 3.9489213 1265 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 1265 22 23488775 23488775 C A intronic RAB36 NA NA NA intronic ENSG00000100228 NA NA NA NA NA 22q11.22 NA NA NA NA rs117152978 0.01 0.01 0.004 0.00419329 0.0179 NA NA 0.0008 0.002 0.02 NA NA NA 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 0.274129 NA NA 0.019302 0.004312 NA 0.007 NA 3.948798 1265 2 96944480 96944480 C G intronic SNRNP200 NA NA NA intronic ENSG00000144028 NA NA NA NA NA 2q11.2 NA NA NA NA rs78519182 0.02 0.02 0.02 0.0211661 0.0169 0.0169 0.0173 0.0303 0.0204 0.02 0.02 0.02 0.02 0.0162 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 -1.594452 NA NA 0.018372 0.0202 NA 0.007 NA 3.948528 1265 1 1262966 1262966 C T exonic GLTPD1 NA synonymous SNV GLTPD1:NM_001029885:exon3:c.C468T:p.R156R exonic ENSG00000224051 NA synonymous SNV ENSG00000224051:ENST00000343938:exon3:c.C468T:p.R156R Score=496;Name=lod=138 NA 1p36.33 NA NA NA NA rs307349 0.78 0.78 0.777 0.76258 0.9155 0.8323 0.8732 0.4834 0.8323 0.92 0.83 0.85 0.47 0.8716 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 -0.753722 NA NA 0.931251 0.581161 NA 0.768 NA 3.9483156 1265 13 19943715 19943715 G C intergenic LINC00421,TPTE2 dist=22826;dist=53304 NA NA ncRNA_exonic ENSG00000224976 NA NA NA NA NA 13q12.11 NA NA NA NA rs111388881 0.02 0.02 0.017 0.0163738 0.0517 NA 0.0346 0.0015 0.0041 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 -0.778627 NA NA NA NA NA 0.029 NA 3.9483 1265 16 89293614 89293614 A G exonic ZNF778 NA synonymous SNV ZNF778:NM_182531:exon6:c.A834G:p.E278E,ZNF778:NM_001201407:exon7:c.A918G:p.E306E exonic ENSG00000170100 NA synonymous SNV ENSG00000170100:ENST00000306502:exon5:c.A708G:p.E236E,ENSG00000170100:ENST00000433976:exon6:c.A834G:p.E278E Score=401;Name=lod=57 NA 16q24.3 NA NA NA NA rs4785626 0.83 0.83 0.812 0.770168 0.9254 0.8948 0.9107 0.4985 0.7495 0.93 0.91 0.91 0.54 0.8687 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 -0.04185 NA NA 0.924308 0.601578 NA 0.804 NA 3.9482586 1265 12 109283974 109283974 G A intronic DAO NA NA NA intronic ENSG00000110887 NA NA NA NA NA 12q24.11 NA NA NA NA rs117594747 0.01 0.01 0.006 0.00459265 0.0149 NA 0.0086 0.0008 0.001 0.01 NA 0.01 NA 0.0142 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 1.993021 1.993021 NA 0.023256 0.003404 NA NA NA 3.947644 1265 8 2005624 2005624 G A intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA Name=5 NA rs3765206 0.29 0.29 0.26 0.260982 0.3509 0.2411 0.4366 0.0953 0.2883 0.36 0.28 0.42 0.11 0.3397 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.954175 NA NA 0.36186 0.125738 NA 0.348 NA 3.94754 1265 3 123357062 123357062 G C intronic MYLK NA NA NA ncRNA_intronic ENSG00000239523 NA NA NA NA NA 3q21.1 NA NA NA NA rs820464 0.35 0.35 0.346 0.3748 0.0785 0.6399 0.3271 0.4758 0.3037 0.09 0.67 0.28 0.45 0.2173 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 1.458674 1.458674 NA 0.09 0.407853 NA 0.268 NA 3.9475333 1265 1 6704635 6704635 A G exonic DNAJC11 NA synonymous SNV DNAJC11:NM_018198:exon10:c.T1080C:p.G360G exonic ENSG00000007923 NA synonymous SNV ENSG00000007923:ENST00000377573:exon9:c.T810C:p.G270G,ENSG00000007923:ENST00000294401:exon10:c.T1080C:p.G360G,ENSG00000007923:ENST00000377577:exon10:c.T1080C:p.G360G,ENSG00000007923:ENST00000542246:exon10:c.T966C:p.G322G Score=507;Name=lod=153 NA 1p36.31 NA NA NA NA rs200458 0.82 0.82 0.817 0.833067 0.9245 0.5704 0.9625 0.8676 0.8712 0.92 0.59 0.95 0.84 0.8836 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 0.954076 NA NA 0.911744 0.876986 NA 0.862 NA 3.9468226 1265 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 1265 10 120914692 120914692 G A intronic SFXN4 NA NA NA intronic ENSG00000183605 NA NA NA Score=265;Name=lod=16 NA 10q26.11 NA NA NA NA rs17668734 0.26 0.26 0.245 0.266374 0.3827 0.1796 0.3156 0.1286 0.3875 0.39 0.18 0.3 0.13 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 1.180191 NA NA 0.345349 0.165002 NA 0.254 NA 3.945851 1265 2 37402270 37402270 C G intronic SULT6B1 NA NA NA intronic ENSG00000138068 NA NA NA Score=574;Name=lod=287 NA 2p22.2 NA NA NA NA rs11569755 0.25 0.25 0.23 0.215655 0.3777 0.1448 0.3156 0.1089 0.1953 0.37 0.18 0.31 0.1 0.3137 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.498152 1.498152 NA 0.362864 0.153794 NA 0.203 NA 3.945736 1265 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 1265 3 3081825 3081825 T C exonic CNTN4 NA synonymous SNV CNTN4:NM_001206956:exon11:c.T1281C:p.D427D,CNTN4:NM_175613:exon11:c.T1284C:p.D428D,CNTN4:NM_001206955:exon19:c.T2268C:p.D756D,CNTN4:NM_175607:exon20:c.T2268C:p.D756D exonic ENSG00000144619 NA synonymous SNV ENSG00000144619:ENST00000448906:exon10:c.T1284C:p.D428D,ENSG00000144619:ENST00000397459:exon11:c.T1284C:p.D428D,ENSG00000144619:ENST00000358480:exon14:c.T1611C:p.D537D,ENSG00000144619:ENST00000427331:exon17:c.T2268C:p.D756D,ENSG00000144619:ENST00000397461:exon19:c.T2268C:p.D756D,ENSG00000144619:ENST00000418658:exon20:c.T2268C:p.D756D NA NA 3p26.2 Score=847;Name=V$AP4_01 NA NA NA rs339285 0.92 0.92 0.927 0.896565 0.9095 0.8849 0.8804 0.972 0.8047 0.91 0.9 0.9 0.98 0.8975 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 0.487484 NA 0.6 0.914186 0.956196 NA 0.957 NA 3.9454806 1265 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 1265 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 1265 16 84494252 84494252 C T intronic ATP2C2 NA NA NA ncRNA_exonic ENSG00000261286 NA NA NA NA NA 16q24.1 NA NA NA NA rs72806651 0.07 0.07 0.066 0.0435304 0.1531 NA 0.0634 0.0015 0.0184 0.16 NA 0.08 0.002 0.0967 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415316 NA NA 0.13846 0.031434 NA 0.196 NA 3.9450733 1266 1 93089823 93089823 T C exonic EVI5 NA synonymous SNV EVI5:NM_005665:exon14:c.A1689G:p.Q563Q exonic ENSG00000067208 NA synonymous SNV ENSG00000067208:ENST00000370331:exon14:c.A1689G:p.Q563Q,ENSG00000067208:ENST00000540033:exon14:c.A1689G:p.Q563Q,ENSG00000067208:ENST00000543509:exon15:c.A1722G:p.Q574Q Score=649;Name=lod=581 NA 1p22.1 NA NA NA NA rs7514716 0.94 0.94 0.946 0.949081 0.9026 0.9752 0.9395 0.9554 0.9683 0.91 0.97 0.93 0.95 0.9216 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 1.004701 NA NA 0.897558 0.943713 NA 0.964 NA 3.9449086 1266 X 135307049 135307049 G A intronic MAP7D3 NA NA NA intronic ENSG00000129680 NA NA NA NA NA Xq26.3 Score=864;Name=V$TATA_01 NA NA NA rs5929742 0.52 0.52 0.50874 NA NA NA NA NA NA 0.56 0.7 0.5 0.27 0.5398 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 0.390855 NA NA 0.515461 0.257096 NA 0.449 NA 3.944739 1266 16 20376755 20376755 T C exonic PDILT NA synonymous SNV PDILT:NM_174924:exon9:c.A1224G:p.V408V exonic ENSG00000169340 NA synonymous SNV ENSG00000169340:ENST00000302451:exon9:c.A1224G:p.V408V NA NA 16p12.3 NA NA NA NA rs8054266 0.47 0.47 0.486 0.471446 0.5765 0.1925 0.4467 0.6331 0.4499 0.58 0.2 0.46 0.63 0.5394 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170334 NA NA 0.606279 0.591693 NA 0.464 NA 3.9444876 1266 3 14174454 14174454 G T intronic TMEM43 NA NA NA intronic ENSG00000170876 NA NA NA NA NA 3p25.1 NA NA NA NA rs114026215 0.01 0.01 0.006 0.00798722 0.0199 NA 0.0173 0.0008 0.0072 0.01 NA 0.02 0.002 0.0131 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 -0.138079 NA NA 0.022558 0.005901 NA 0.022 NA 3.944442 1266 3 111828476 111828476 A G intronic C3orf52 NA NA NA intronic ENSG00000114529 NA NA NA NA NA 3q13.2 NA Name=FOXA1_(C-20),FOXA1_(SC-101058) NA NA rs2120095 0.26 0.26 0.25 0.271765 0.3579 0.1964 0.2651 0.2617 0.2791 0.34 0.17 0.3 0.24 0.3507 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.058782 NA NA 0.34704 0.279874 NA 0.283 NA 3.94436 1266 11 48997278 48997278 G C intergenic OR4A47,TRIM49B dist=486004;dist=55874 NA NA ncRNA_exonic ENSG00000220948 NA NA NA NA NA 11p11.12 NA NA NA NA rs113897686 0.02 0.02 0.027 0.0233626 0.0318 NA 0.0086 0.0567 0.0041 0.03 NA 0.01 0.04 0.024 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 -0.672127 NA NA NA NA NA 0.022 NA 3.9442 1266 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 1266 2 37402373 37402373 A G intronic SULT6B1 NA NA NA intronic ENSG00000138068 NA NA NA Score=574;Name=lod=287 NA 2p22.2 NA NA NA NA rs11569758 0.25 0.25 0.206 0.215655 0.3787 0.1448 0.3141 0.1089 0.1953 0.37 0.18 0.31 0.1 0.3143 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.881175 NA NA 0.362937 0.151136 NA 0.217 NA 3.944063 1266 8 87155225 87155225 C T intronic ATP6V0D2 NA NA NA ncRNA_intronic ENSG00000253675 NA NA NA NA NA 8q21.3 NA NA NA NA rs75594898 0.08 0.08 0.06 0.0772764 0.1372 0.0179 0.0677 0.0499 0.1207 0.15 0.0017 0.07 0.06 0.1108 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.779407 NA NA 0.14156 0.069451 ID=COSN168361;OCCURENCE=1(large_intestine) 0.101 NA 3.9437733 1266 20 139409 139409 G A intronic DEFB127 NA NA NA intronic ENSG00000088782 NA NA NA Score=251;Name=lod=14 NA 20p13 NA NA NA NA rs12624951 0.32 0.32 0.277 0.324281 0.3419 0.5446 0.3487 0.0424 0.4427 0.34 0.5 0.37 0.04 0.3635 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.032619 NA NA 0.35093 0.089197 NA 0.145 NA 3.94367 1266 1 154437896 154437896 T C UTR3 IL6R NM_181359:c.*255T>C,NM_000565:c.*40T>C NA NA UTR3 ENSG00000160712 ENST00000368485:c.*40T>C,ENST00000344086:c.*255T>C NA NA NA Name=Coronary heart disease 1q21.3 NA Name=GATA-1 NA NA rs2229238 0.81 0.81 0.823 0.796925 0.7803 0.8065 0.8631 0.7731 0.7894 0.78 0.84 0.83 0.79 0.7975 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 -0.857272 NA NA 0.811962 0.786882 NA 0.768 NA 3.9435714 1266 8 104943439 104943439 G T intronic RIMS2 NA NA NA intronic ENSG00000176406 NA NA NA NA NA 8q22.3 NA NA NA NA rs72681378 0.01 0.01 0.007 0.00838658 0.0278 NA 0.0173 0.0008 0.001 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 -0.95122 NA NA 0.028643 0.006279 NA 0.087 NA 3.943557 1266 20 31584178 31584178 G A intronic SUN5 NA NA NA intronic ENSG00000167098 NA NA NA Score=265;Name=lod=16 NA 20q11.21 NA NA NA NA rs6141862 0.41 0.41 0.36 0.42472 0.3241 0.7758 0.4409 0.18 0.4857 0.32 0.75 0.41 0.16 0.3867 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 1.217923 NA NA 0.345814 0.197912 NA 0.312 NA 3.943386 1266 19 15198764 15198764 T C exonic OR1I1 NA synonymous SNV OR1I1:NM_001004713:exon1:c.T888C:p.D296D exonic ENSG00000094661 NA synonymous SNV ENSG00000094661:ENST00000209540:exon1:c.T888C:p.D296D Score=500;Name=lod=144 NA 19p13.12 NA NA NA NA rs12975625 0.89 0.89 0.882 0.903954 0.9036 0.8006 0.9135 0.966 0.9202 0.91 0.78 0.9 0.97 0.9116 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 -1.200338 NA NA 0.90814 0.95143 NA 0.92 NA 3.9433266 1266 19 21838272 21838272 T C intergenic ZNF429,ZNF100 dist=117193;dist=68571 NA NA ncRNA_exonic ENSG00000268278 NA NA NA NA NA 19p12 NA NA NA NA rs34069114 0.11 0.11 0.091 0.135982 0.0567 0.1756 0.0576 0.171 0.1851 0.06 0.17 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 -0.880982 NA NA NA NA NA 0.101 NA 3.9433 1266 19 21838295 21838295 A G intergenic ZNF429,ZNF100 dist=117216;dist=68548 NA NA ncRNA_exonic ENSG00000268278 NA NA NA NA NA 19p12 NA NA NA NA rs60312928 0.11 0.11 0.106 0.136382 0.0567 0.1756 0.0576 0.1725 0.1851 0.06 0.17 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 -0.879262 NA 0.26 NA NA NA 0.094 NA 3.9433 1266 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 1266 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 1266 2 127945023 127945023 C G intronic CYP27C1 NA NA NA intronic ENSG00000186684 NA NA NA NA NA 2q14.3 NA NA NA NA rs75876537 0.04 0.04 0.047 0.0367412 0.0567 0.0625 0.0231 0.0136 0.0307 0.05 0.06 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 -0.06595 NA NA NA NA ID=COSN166264;OCCURENCE=1(breast) 0.029 NA 3.9433 1266 2 27858112 27858112 G A intronic GPN1 NA NA NA intronic ENSG00000198522 NA NA NA NA NA 2p23.3 NA NA NA NA rs76683865 0.05 0.05 0.055 0.0511182 0.0189 NA 0.0245 0.1649 0.002 0.02 NA 0.02 0.17 0.0222 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.296727 NA NA 0.016163 0.120291 NA 0.072 NA 3.942737 1266 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 1266 19 5110794 5110794 A G exonic KDM4B NA synonymous SNV KDM4B:NM_015015:exon10:c.A1080G:p.A360A exonic ENSG00000127663 NA synonymous SNV ENSG00000127663:ENST00000536461:exon9:c.A1080G:p.A360A,ENSG00000127663:ENST00000159111:exon10:c.A1080G:p.A360A,ENSG00000127663:ENST00000381759:exon10:c.A1080G:p.A360A NA NA 19p13.3 NA NA NA NA rs2613739 0.62 0.62 0.602 0.634585 0.5656 0.6677 0.5706 0.6838 0.6503 0.57 0.64 0.56 0.7 0.6063 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 -0.169241 NA NA 0.552362 0.640682 NA 0.486 NA 3.9424046 1266 13 38924263 38924263 T C intronic UFM1 NA NA NA exonic ENSG00000120686 NA synonymous SNV ENSG00000120686:ENST00000379641:exon1:c.T12C:p.A4A,ENSG00000120686:ENST00000379649:exon2:c.T12C:p.A4A NA NA 13q13.3 NA Name=Pol2(b),Pol2 Name=148 NA rs2231332 0.9 0.9 0.868 0.864217 0.9771 0.9911 0.9568 0.5635 0.9581 0.98 0.99 0.95 0.62 0.9408 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 0.490359 NA NA 0.97306 0.605548 NA 0.884 NA 3.9423733 1266 2 171702585 171702585 G A intronic GAD1 NA NA NA intronic ENSG00000128683 NA NA NA NA NA 2q31.1 NA NA NA NA rs701491 0.02 0.02 0.002 0.0219649 0.0109 NA 0.1182 0.0015 0.0153 0.01 NA 0.07 0.0041 0.0277 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 -0.463344 NA NA 0.01907 0.005447 NA 0.007 NA 3.94233 1266 22 50454825 50454825 A G intergenic IL17REL,MLC1 dist=3770;dist=42995 NA NA intronic ENSG00000138892 NA NA NA NA NA 22q13.33 NA Name=USF-1 NA NA rs7292558 0.32 0.32 0.363 0.332069 0.2097 0.3204 0.2406 0.5628 0.2229 0.2 0.34 0.22 0.54 0.3213 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.422314 NA NA 0.193502 0.433271 NA 0.261 NA 3.9421647 1266 9 37429814 37429814 A G exonic GRHPR NA synonymous SNV GRHPR:NM_012203:exon6:c.A579G:p.A193A exonic ENSG00000137106 NA synonymous SNV ENSG00000137106:ENST00000494290:exon1:c.A150G:p.A50A,ENSG00000137106:ENST00000318158:exon6:c.A579G:p.A193A,ENSG00000137106:ENST00000607784:exon6:c.A579G:p.A193A NA NA 9p13.2 NA NA NA NA rs309458 0.87 0.87 0.849 0.849241 0.9205 0.9167 0.83 0.7141 0.9029 0.92 0.91 0.86 0.75 0.8925 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 1.01532 NA NA 0.911628 0.75034 NA 0.906 CLINSIG=non-pathogenic;CLNDBN=Primary_hyperoxaluria\x2c_type_II;CLNREVSTAT=single;CLNACC=RCV000020679.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK2692:C0268165:260000:ORPHA93599:40951006 3.9420386 1266 16 71768500 71768500 T C intronic AP1G1 NA NA NA intronic ENSG00000166747 NA NA NA Score=601;Name=lod=371 NA 16q22.2 NA NA NA NA rs2278031 0.44 0.44 0.427 0.422923 0.3241 0.7609 0.5274 0.267 0.3129 0.31 0.74 0.46 0.28 0.394 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.705156 1.705156 NA 0.340116 0.283439 NA 0.355 NA 3.941784 1266 19 10334663 10334663 T G exonic S1PR2 NA synonymous SNV S1PR2:NM_004230:exon2:c.A919C:p.R307R exonic ENSG00000267534 NA synonymous SNV ENSG00000267534:ENST00000590320:exon2:c.A919C:p.R307R NA NA 19p13.2 NA NA NA NA rs2116942 0.54 0.54 0.447 0.551917 0.5895 0.3095 0.4568 0.7678 0.5389 0.57 0.31 0.51 0.76 0.547 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 -0.42667 NA NA 0.588401 0.719512 NA 0.5 NA 3.9417656 1266 14 23374862 23374862 C T exonic RBM23 NA synonymous SNV RBM23:NM_018107:exon5:c.G360A:p.R120R,RBM23:NM_001077351:exon6:c.G408A:p.R136R exonic ENSG00000100461 NA synonymous SNV ENSG00000100461:ENST00000399922:exon5:c.G360A:p.R120R,ENSG00000100461:ENST00000359890:exon6:c.G408A:p.R136R NA NA 14q11.2 NA NA NA NA rs2295682 0.52 0.52 0.489 0.515575 0.5805 0.8016 0.6095 0.034 0.7382 0.59 0.78 0.6 0.05 0.5805 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 -1.534214 NA NA 0.563936 0.134989 NA 0.42 NA 3.9417306 1266 20 60485627 60485627 C T exonic CDH4 NA synonymous SNV CDH4:NM_001252338:exon8:c.C1227T:p.D409D,CDH4:NM_001252339:exon8:c.C1116T:p.D372D,CDH4:NM_001794:exon9:c.C1338T:p.D446D exonic ENSG00000179242 NA synonymous SNV ENSG00000179242:ENST00000543233:exon8:c.C1116T:p.D372D,ENSG00000179242:ENST00000360469:exon9:c.C1338T:p.D446D Score=343;Name=lod=33 NA 20q13.33 NA NA NA NA rs2427240 0.73 0.73 0.699 0.704872 0.9314 0.5367 0.8501 0.5197 0.7924 0.93 0.58 0.86 0.52 0.8515 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 -0.617278 NA NA 0.942209 0.610985 ID=COSM1685461;OCCURENCE=1(skin) 0.703 NA 3.9415576 1266 6 28546979 28546979 A C intronic SCAND3 NA NA NA intronic ENSG00000232040 NA NA NA NA NA 6p22.1 NA NA NA NA rs116248176 0.03 0.03 0.022 0.0217652 0.0586 0.003 0.0288 0.0038 0.0225 0.06 0.0035 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 0.353017 NA NA NA NA NA 0.029 NA 3.9414 1266 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 1266 6 36467791 36467791 C G intronic STK38 NA NA NA intronic ENSG00000112079 NA NA NA Score=289;Name=lod=20 NA 6p21.31 NA NA NA NA rs659726 0.51 0.51 0.503 0.507388 0.3509 0.5258 0.5245 0.7095 0.364 0.33 0.57 0.49 0.72 0.4 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.615776 3.615776 NA 0.307791 0.652065 NA 0.457 NA 3.941309 1266 7 105642086 105642086 A C intronic CDHR3 NA NA NA intronic ENSG00000128536 NA NA NA NA NA 7q22.3 NA NA NA NA rs10229260 0.04 0.04 0.042 0.0716853 0.008 0.0685 0.013 0.0613 0.1963 0.01 0.07 0.02 0.07 0.0398 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 0.662707 NA NA 0.010901 0.055918 NA 0.051 NA 3.941299 1266 3 9760114 9760114 T A intronic CPNE9 NA NA NA intronic ENSG00000144550 NA NA NA NA NA 3p25.3 NA NA NA NA rs76369335 0.02 0.02 0.027 0.0263578 0.0258 NA 0.0187 0.0598 0.0143 0.02 NA 0.02 0.06 0.0183 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 -0.861707 NA NA 0.014607 0.053739 NA 0.014 NA 3.941293 1266 3 9759922 9759922 C T intronic CPNE9 NA NA NA intronic ENSG00000144550 NA NA NA NA NA 3p25.3 NA NA NA NA rs11918935 0.02 0.02 0.025 0.0257588 0.0258 NA 0.0187 0.0575 0.0143 0.02 NA 0.02 0.05 0.0189 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 -0.335095 NA NA 0.014663 0.051899 NA 0.014 NA 3.940637 1266 14 21928397 21928397 A G UTR3 RAB2B NM_032846:c.*958T>C,NM_001163380:c.*958T>C NA NA UTR3 ENSG00000129472 ENST00000397762:c.*958T>C NA NA NA NA 14q11.2 NA NA NA NA rs28927672 0.19 0.19 0.159 0.194089 0.1421 0.0645 0.2651 0.4002 0.0521 0.15 0.06 0.25 0.37 0.1494 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147907 NA 0.83 0.101205 0.325342 NA NA NA 3.9406284 1266 6 51720872 51720872 A G intronic PKHD1 NA NA NA intronic ENSG00000170927 NA NA NA NA NA 6p12.3 NA NA NA NA rs7452724 0.52 0.52 0.493 0.539736 0.3201 0.8393 0.5634 0.4539 0.5562 0.34 0.84 0.49 0.47 0.4342 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 0.184611 NA NA 0.305233 0.423967 NA 0.428 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082572.1;CLNDSDB=.;CLNDSDBID=. 3.940467 1266 3 101484335 101484335 G A exonic CEP97 NA synonymous SNV CEP97:NM_024548:exon11:c.G2538A:p.Q846Q exonic ENSG00000182504 NA synonymous SNV ENSG00000182504:ENST00000341893:exon11:c.G2538A:p.Q846Q,ENSG00000182504:ENST00000494050:exon11:c.G2361A:p.Q787Q,ENSG00000182504:ENST00000327230:exon12:c.G2616A:p.Q872Q Score=423;Name=lod=70 NA 3q12.3 NA NA NA NA rs2625282 0.92 0.92 0.925 0.904952 0.9016 0.9901 0.9323 0.8805 0.8344 0.91 0.99 0.93 0.87 0.911 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 0.660341 NA NA 0.913605 0.878747 NA 0.899 NA 3.9404616 1266 14 70924462 70924462 A G exonic ADAM21 NA synonymous SNV ADAM21:NM_003813:exon2:c.A246G:p.L82L exonic ENSG00000139985 NA synonymous SNV ENSG00000139985:ENST00000267499:exon1:c.A246G:p.L82L,ENSG00000139985:ENST00000603540:exon2:c.A246G:p.L82L NA NA 14q24.2 NA NA NA NA rs3751523 0.72 0.72 0.679 NA NA NA NA NA NA 0.86 0.5 0.84 0.65 0.839 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 -1.933813 NA NA 0.887209 0.646391 NA 0.783 NA 3.9404576 1266 9 139405530 139405530 C T intronic NOTCH1 NA NA NA intronic ENSG00000148400 NA NA NA NA NA 9q34.3 NA NA NA NA rs11574894 0.03 0.03 0.019 0.0205671 0.0596 NA 0.0317 0.0038 0.0164 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 0.341268 NA NA NA NA NA NA NA 3.9404 1266 9 139656319 139656319 G A intronic LCN15 NA NA NA intronic ENSG00000177984 NA NA NA NA NA 9q34.3 NA NA NA NA rs113962430 0.01 0.01 0.006 0.00658946 0.0258 0.001 0.0029 NA 0.0041 0.03 0.0017 0.0028 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 -0.196499 NA NA 0.011783 0.001834 NA NA NA 3.940217 1266 3 195479256 195479256 T C exonic MUC4 NA synonymous SNV MUC4:NM_138297:exon19:c.A2709G:p.E903E,MUC4:NM_004532:exon20:c.A2862G:p.E954E,MUC4:NM_018406:exon21:c.A15570G:p.E5190E exonic ENSG00000145113 NA synonymous SNV ENSG00000145113:ENST00000349607:exon19:c.A2709G:p.E903E,ENSG00000145113:ENST00000346145:exon20:c.A2862G:p.E954E,ENSG00000145113:ENST00000475231:exon20:c.A15414G:p.E5138E,ENSG00000145113:ENST00000463781:exon21:c.A15570G:p.E5190E NA NA 3q29 Score=869;Name=V$ATF_01 NA NA NA rs2258447 0.83 0.83 0.816 0.812101 0.9264 0.8234 0.9265 0.6536 0.816 0.92 0.79 0.91 0.66 0.8813 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 0.102246 NA NA 0.919186 0.677939 NA 0.833 NA 3.9397806 1266 2 241066280 241066280 C T exonic MYEOV2 NA synonymous SNV MYEOV2:NM_138336:exon5:c.G459A:p.E153E exonic ENSG00000172428 NA synonymous SNV ENSG00000172428:ENST00000307266:exon5:c.G459A:p.E153E NA NA 2q37.3 NA NA NA NA rs4292120 0.71 0.71 0.716 0.719848 0.5696 0.7252 0.6744 0.9705 0.5624 0.55 0.74 0.66 0.96 0.6043 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 -0.457891 NA NA 0.553605 0.902179 NA 0.616 NA 3.9391616 1266 1 234563060 234563060 T C intronic TARBP1 NA NA NA intronic ENSG00000059588 NA NA NA Score=376;Name=lod=45 NA 1q42.2 NA NA NA NA rs443685 0.37 0.37 0.361 0.415136 0.335 0.4464 0.2723 0.4773 0.4826 0.33 0.41 0.27 0.45 0.3705 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.697647 NA NA 0.355747 0.450954 NA 0.319 NA 3.938753 1266 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 1266 6 33650433 33650433 G A intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs78238190 0.01 0.01 0.004 0.00638978 0.0199 NA 0.0144 0.0008 0.001 0.02 NA 0.02 NA 0.0202 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 0.672857 NA NA 0.021668 0.006812 NA NA NA 3.938232 1266 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 1266 19 51582217 51582217 C A intronic KLK14 NA NA NA intronic ENSG00000129437 NA NA NA NA NA 19q13.41 NA NA NA NA rs113235029 0.01 0.01 0.008 0.00738818 0.0199 NA 0.0058 0.0015 0.0112 0.02 NA 0.01 0.0041 0.0167 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 -0.413235 NA NA 0.025209 0.00465 NA NA NA 3.938191 1266 11 47348266 47348266 C T intronic MADD NA NA NA intronic ENSG00000110514 NA NA NA NA NA 11p11.2 NA NA NA NA rs41303843 0.01 0.01 0.005 0.00579073 0.0239 NA 0.0029 0.0008 0.002 0.02 NA 0.0028 0.002 0.0155 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 3.56168 3.56168 NA 0.022452 0.00318 NA NA NA 3.938148 1266 14 21928398 21928398 T C UTR3 RAB2B NM_032846:c.*957A>G,NM_001163380:c.*957A>G NA NA UTR3 ENSG00000129472 ENST00000397762:c.*957A>G NA NA NA NA 14q11.2 NA NA NA NA rs56310285 0.19 0.19 0.16 0.19389 0.1421 0.0645 0.2651 0.3994 0.0521 0.15 0.06 0.25 0.37 0.1494 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.139993 NA NA 0.103717 0.329909 NA NA NA 3.9381164 1266 11 68171013 68171013 T C exonic LRP5 NA synonymous SNV LRP5:NM_002335:exon8:c.T1647C:p.F549F exonic ENSG00000162337 NA synonymous SNV ENSG00000162337:ENST00000294304:exon8:c.T1647C:p.F549F Score=462;Name=lod=101 NA 11q13.2 NA NA NA NA rs545382 0.86 0.86 0.83 0.841454 0.9215 0.9851 0.9063 0.5666 0.9366 0.93 0.98 0.9 0.59 0.9001 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 1.461296 1.461296 NA 0.906963 0.636591 NA 0.87 NA 3.9381036 1266 18 74671600 74671600 C G intronic ZNF236 NA NA NA intronic ENSG00000130856 NA NA NA NA NA 18q23 NA NA NA NA rs117376363 0.02 0.02 0.021 0.0163738 0.0258 0.0218 0.0245 0.0008 0.0164 0.02 0.03 0.02 0.002 0.0183 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 0.139767 NA NA 0.017823 0.003608 NA 0.014 NA 3.938077 1266 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 1266 18 74607264 74607264 A G intronic ZNF236 NA NA NA intronic ENSG00000130856 NA NA NA NA NA 18q23 NA NA NA NA rs3752080 0.02 0.02 0.022 0.0171725 0.0258 0.0228 0.0245 0.0008 0.0194 0.02 0.03 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 -0.096737 NA NA 0.017646 0.003046 NA 0.014 NA 3.937654 1266 22 38043444 38043444 C A intronic SH3BP1 NA NA NA ncRNA_intronic ENSG00000233360 NA NA NA NA NA 22q13.1 NA Name=ZNF263 NA NA rs3213528 0.37 0.37 0.31 0.355631 0.494 0.2599 0.5677 0.1952 0.3783 0.5 0.22 0.54 0.22 0.4346 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519581 NA NA 0.467907 0.2197 NA 0.384 NA 3.9368263 1266 17 26947476 26947476 T G intronic KIAA0100 NA NA NA intronic ENSG00000007202 NA NA NA NA NA 17q11.2 NA NA NA NA rs117972846 0.01 0.01 0.012 0.00519169 0.0199 NA 0.0072 0.0008 NA 0.02 NA 0.01 0.002 0.0176 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 1.946731 1.946731 NA 0.025698 0.004993 NA NA NA 3.936802 1266 5 80631511 80631511 G A ncRNA_intronic RNU5D-1,RNU5E-1 NA NA NA intronic ENSG00000172497 NA NA NA NA NA 5q14.1 NA NA NA NA rs6452399 0.32 0.32 0.319 0.327276 0.3966 0.0625 0.3314 0.5159 0.271 0.39 0.07 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 0.867886 NA NA NA NA NA 0.428 NA 3.9367333 1266 5 169685187 169685187 A G intronic LCP2 NA NA NA intronic ENSG00000043462 NA NA NA NA NA 5q35.1 NA NA NA NA rs76219007 0.01 0.01 0.011 0.0181709 0.0189 NA 0.0187 0.0136 0.0419 0.02 NA 0.01 0.03 0.0224 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 -0.683286 NA NA 0.022203 0.013969 NA 0.022 NA 3.936497 1266 15 59094494 59094494 C G intronic FAM63B NA NA NA intronic ENSG00000128923 NA NA NA NA NA 15q21.3 NA NA NA NA rs190973169 0.01 0.01 NA 0.0123802 0.0149 NA 0.0058 NA 0.044 0.01 NA 0.01 NA 0.0323 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 0.572032 NA NA 0.016331 0.002334 NA NA NA 3.936469 1266 12 113826442 113826442 C G UTR3 PLBD2 NM_173542:c.*11C>G,NM_001159727:c.*11C>G NA NA UTR3 ENSG00000151176 ENST00000545182:c.*11C>G,ENST00000280800:c.*11C>G NA NA NA NA 12q24.13 NA NA NA NA rs78927955 0.09 0.09 0.094 0.0778754 0.1342 0.001 0.0879 0.0787 0.091 0.14 0.0017 0.1 0.09 0.1143 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.496564 NA NA 0.148372 0.090331 NA 0.065 NA 3.9364614 1266 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 1266 2 218674484 218674484 C T intronic TNS1 NA NA NA intronic ENSG00000079308 NA NA NA NA NA 2q35 NA NA NA NA rs1035671 0.17 0.17 0.158 0.166933 0.0636 0.1617 0.2248 0.2436 0.1339 0.07 0.17 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 -0.499402 NA NA NA NA NA 0.181 NA 3.9364 1266 19 52716143 52716143 G A intronic PPP2R1A NA NA NA intronic ENSG00000105568 NA NA NA NA NA 19q13.41 NA NA NA NA rs74536039 0.03 0.03 0.02 0.0199681 0.0636 0.001 0.0317 NA 0.0133 0.07 0.0017 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 0.110046 NA NA NA NA NA 0.022 NA 3.9364 1266 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 1266 10 104836940 104836940 C T UTR3 CNNM2 NM_199076:c.*3C>T,NM_017649:c.*3C>T NA NA UTR3 ENSG00000148842 ENST00000369878:c.*3C>T,ENST00000433628:c.*3C>T,ENST00000457502:c.*3C>T NA NA NA NA 10q24.32 NA NA NA NA rs2296568 0.1 0.1 0.079 0.0770767 0.1382 0.1528 0.0749 0.0106 0.0276 0.15 0.11 0.09 0.01 0.1146 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659126 NA NA 0.144993 0.033111 NA 0.058 NA 3.9355404 1266 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 1267 20 58883534 58883534 T C ncRNA_intronic LOC284757 NA NA NA ncRNA_exonic ENSG00000207802 NA NA NA NA NA 20q13.33 NA NA NA NA rs6513496 0.24 0.24 0.238 0.272764 0.2455 0.127 0.1657 0.4244 0.3221 0.23 0.15 0.16 0.39 0.2469 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106732 NA NA 0.23995 0.413584 NA 0.312 NA 3.9343166 1267 2 171243601 171243601 C G intronic MYO3B NA NA NA intronic ENSG00000071909 NA NA NA NA NA 2q31.1 NA NA NA NA rs76973106 0.01 0.01 0.006 0.00758786 0.0239 NA 0.0202 NA NA 0.03 NA 0.03 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 1.382452 1.382452 NA 0.023242 0.004202 NA 0.022 NA 3.934158 1267 6 51735261 51735261 G T intronic PKHD1 NA NA NA intronic ENSG00000170927 NA NA NA NA NA 6p12.3 NA NA Name=2 NA rs982874 0.52 0.52 0.498 0.53774 0.3191 0.8373 0.5634 0.4493 0.5552 0.34 0.84 0.49 0.47 0.4324 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 0.81235 NA NA 0.314419 0.429414 NA 0.428 NA 3.934081 1267 10 91483910 91483910 T G intronic KIF20B NA NA NA intronic ENSG00000138182 NA NA NA NA NA 10q23.31 NA NA NA NA rs7101125 0.03 0.03 0.028 0.0463259 0.0258 0.006 0.0187 0.0953 0.0624 0.02 0.0035 0.03 0.08 0.0349 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 1.160387 NA NA 0.005497 0.017345 NA NA NA 3.933803 1267 2 207011836 207011836 C T intronic NDUFS1 NA NA NA intronic ENSG00000023228 NA NA NA NA NA 2q33.3 NA NA NA NA rs77655991 0.02 0.02 0.018 0.0233626 0.0199 0.0308 0.0202 0.0038 0.0481 0.02 0.03 0.02 0.01 0.0234 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 1.457593 1.457593 NA 0.023023 0.005674 NA NA NA 3.933677 1267 15 89198560 89198560 A G intronic ISG20 NA NA NA intronic ENSG00000172183 NA NA NA NA NA 15q26.1 NA NA NA NA rs8041687 0.06 0.06 0.06 0.0644968 0.0666 NA 0.049 0.146 0.0297 0.07 NA 0.05 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 -0.162651 NA NA NA NA NA 0.094 NA 3.9334 1267 16 55762200 55762200 G A ncRNA_intronic CES1P2 NA NA NA ncRNA_intronic ENSG00000260765 NA NA NA NA NA 16q12.2 NA NA NA NA rs4784559 0.64 0.64 0.596 0.564497 0.7336 0.746 0.7709 0.2428 0.4918 0.75 0.77 0.75 0.25 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 -0.500158 NA NA NA NA NA 0.63 NA 3.9330666 1267 1 35926075 35926075 C T intronic KIAA0319L NA NA NA intronic ENSG00000142687 NA NA NA NA NA 1p34.3 NA NA NA NA rs72659616 0.01 0.01 0.009 0.0091853 0.0268 NA 0.0173 0.0015 0.0051 0.02 NA 0.02 0.0041 0.018 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 0.616016 NA NA 0.022326 0.004312 NA 0.007 NA 3.932874 1267 3 8609071 8609071 G A intronic LMCD1 NA NA NA ncRNA_intronic ENSG00000227110 NA NA NA NA NA 3p26.1 NA NA NA NA rs3774212 0.36 0.36 0.345 0.314497 0.4006 0.3899 0.4035 0.149 0.3088 0.41 0.42 0.41 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 -0.26909 NA NA NA NA NA 0.333 NA 3.9327333 1267 22 50315902 50315902 G C intronic CRELD2 NA NA NA intronic ENSG00000184164 NA NA NA NA NA 22q13.33 NA NA NA NA rs117735284 0.01 0.01 0.003 0.00579073 0.0179 NA 0.0072 0.0015 0.0041 0.02 NA 0.01 0.002 0.022 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 -0.872339 NA NA 0.02742 0.005128 NA 0.007 NA 3.93268 1267 3 123039584 123039584 C T intronic ADCY5 NA NA NA intronic ENSG00000173175 NA NA NA NA NA 3q21.1 NA NA NA NA rs112050992 0.01 0.01 0.014 0.00738818 0.0229 NA 0.013 0.0023 0.002 0.03 NA 0.01 0.01 0.0219 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 4.108157 4.108157 NA 0.022674 0.003858 NA 0.065 NA 3.932526 1267 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 1267 1 26688524 26688524 C T intronic ZNF683 NA NA NA intronic ENSG00000176083 NA NA NA NA NA 1p36.11 NA NA NA NA rs41285437 0.01 0.01 0.006 0.00519169 0.0209 NA 0.0043 NA 0.002 0.02 NA 0.01 NA 0.0186 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 -1.214402 NA NA 0.02814 0.005901 NA 0.029 NA 3.93236 1267 5 121776301 121776301 T C ncRNA_intronic MGC32805 NA NA NA ncRNA_intronic ENSG00000250328 NA NA NA NA NA 5q23.2 NA NA NA NA rs2290987 0.23 0.23 0.208 0.245407 0.2336 0.2649 0.2738 0.1551 0.3395 0.23 0.27 0.27 0.17 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 2.261583 2.261583 NA 0.242558 0.179301 NA 0.21 NA 3.9321086 1267 10 7285632 7285632 A G exonic SFMBT2 NA synonymous SNV SFMBT2:NM_001018039:exon9:c.T1008C:p.D336D,SFMBT2:NM_001029880:exon9:c.T1008C:p.D336D exonic ENSG00000198879 NA synonymous SNV ENSG00000198879:ENST00000361972:exon9:c.T1008C:p.D336D,ENSG00000198879:ENST00000397167:exon9:c.T1008C:p.D336D NA NA 10p14 Score=850;Name=V$FREAC4_01 NA NA NA rs2248474 0.92 0.92 0.92 0.902356 0.9165 0.9097 0.9582 0.8896 0.8579 0.92 0.93 0.96 0.9 0.9103 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 -0.585796 NA NA 0.90814 0.889696 NA 0.87 NA 3.9317266 1267 19 10102676 10102676 A G intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA Name=PU.1,TR4 NA NA rs7252953 0.47 0.47 0.465 0.479633 0.333 0.4435 0.3991 0.7753 0.3252 0.33 0.44 0.42 0.76 0.3865 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 -0.376155 NA NA 0.348837 0.707671 NA 0.457 NA 3.931663 1267 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 1267 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 1267 1 237957161 237957161 A G intronic RYR2 NA NA NA intronic ENSG00000198626 NA NA NA NA NA 1q43 NA NA Name=2 NA rs790901 0.75 0.75 0.72 0.757588 0.6501 0.9494 0.804 0.5688 0.8926 0.66 0.96 0.78 0.6 0.7399 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 -0.479644 NA NA 0.678501 0.590255 NA 0.674 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000036684.1|RCV000127854.1;CLNDSDB=.|.;CLNDSDBID=.|. 3.931499 1267 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 1267 17 73566393 73566393 G A intronic LLGL2 NA NA NA intronic ENSG00000073350 NA NA NA NA NA 17q25.1 NA NA NA NA rs140444060 0.01 0.01 0.008 0.0061901 0.0219 NA 0.0101 0.0008 0.001 0.02 NA 0.01 NA 0.0213 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 1.883558 1.883558 NA 0.025349 0.003869 NA 0.072 NA 3.931451 1267 1 159906156 159906156 A G intronic IGSF9 NA NA NA intronic ENSG00000085552 NA NA NA NA NA 1q23.2 NA Name=NRSF NA NA rs10908750 0.35 0.35 0.331 0.327276 0.3509 0.4613 0.3646 0.1543 0.3722 0.36 0.49 0.36 0.17 0.364 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.257645 NA NA 0.353687 0.178928 NA 0.246 NA 3.931413 1267 7 36327410 36327410 A G intronic EEPD1 NA NA NA intronic ENSG00000122547 NA NA NA NA NA 7p14.2 NA NA Name=53 NA rs196595 0.48 0.48 0.47 0.506789 0.328 0.7857 0.4179 0.4569 0.5337 0.31 0.8 0.39 0.44 0.4155 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 0.756102 NA NA 0.325233 0.44099 NA 0.457 NA 3.931267 1267 2 42990336 42990336 T G exonic OXER1 NA synonymous SNV OXER1:NM_148962:exon1:c.A984C:p.R328R exonic ENSG00000162881 NA synonymous SNV ENSG00000162881:ENST00000378661:exon1:c.A984C:p.R328R NA NA 2p21 NA NA NA NA rs1992286 0.73 0.73 0.712 0.780152 0.5408 0.8165 0.7536 0.9569 0.7689 0.52 0.8 0.74 0.94 0.6475 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 0.115976 NA NA 0.547209 0.881525 ID=COSM442907;OCCURENCE=1(breast) 0.638 NA 3.9311576 1267 4 77977391 77977391 G C intronic CCNI NA NA NA intronic ENSG00000118816 NA NA NA NA NA 4q21.1 NA NA NA NA rs4252897 0.04 0.04 0.027 0.0333466 0.0199 0.0913 0.0173 0.0182 0.0194 0.02 0.1 0.02 0.01 0.0235 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 1.039368 NA NA 0.025814 0.017476 ID=COSN167253;OCCURENCE=1(large_intestine) 0.022 NA 3.930786 1267 15 25442795 25442795 C T intergenic SNORD115-14,SNORD115-16 dist=2647;dist=1800 NA NA ncRNA_exonic ENSG00000201679 NA NA NA NA NA 15q11.2 NA NA NA NA rs12910266 0.02 0.02 0.014 0.013778 0.0258 NA 0.013 0.0204 0.0072 0.03 NA 0.02 0.03 0.0201 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 1.972931 1.972931 NA 0.023379 0.022831 NA 0.058 NA 3.930721 1267 22 44004305 44004305 C G intronic EFCAB6 NA NA NA intronic ENSG00000186976 NA NA NA NA NA 22q13.2 NA NA NA NA rs12485238 0.06 0.06 0.047 0.047524 0.0696 0.0119 0.0807 0.0651 0.0143 0.06 0.02 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 0.557732 NA NA NA NA NA 0.087 NA 3.9304 1267 13 51943057 51943057 G A intronic INTS6 NA NA NA intronic ENSG00000102786 NA NA NA NA NA 13q14.3 NA NA NA NA rs45535533 0.01 0.01 0.009 0.00958466 0.0258 NA 0.0115 NA 0.0143 0.03 NA 0.01 NA 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 -1.117283 NA NA 0.02593 0.004539 NA 0.007 NA 3.92967 1267 5 153789078 153789078 C G ncRNA_intronic FLJ38109 NA NA NA ncRNA_intronic ENSG00000245275 NA NA NA NA NA 5q33.2 NA NA NA NA rs6580077 0.34 0.34 0.318 0.374002 0.2247 0.3839 0.3977 0.4894 0.3446 0.23 0.36 0.36 0.45 0.296 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678403 NA NA 0.216395 0.442805 NA 0.246 NA 3.9295716 1267 11 86098680 86098680 T C exonic CCDC81 NA synonymous SNV CCDC81:NM_001156474:exon3:c.T264C:p.I88I,CCDC81:NM_021827:exon3:c.T264C:p.I88I exonic ENSG00000149201 NA synonymous SNV ENSG00000149201:ENST00000354755:exon3:c.T264C:p.I88I,ENSG00000149201:ENST00000445632:exon3:c.T264C:p.I88I NA NA 11q14.2 NA NA NA NA rs292109 0.65 0.65 0.661 0.662141 0.5785 0.6875 0.4597 0.7632 0.729 0.56 0.73 0.51 0.79 0.6021 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 -0.06226 NA NA 0.556525 0.733651 NA 0.688 NA 3.9295416 1267 8 124453543 124453543 T A intronic WDYHV1 NA NA NA intronic ENSG00000156795 NA NA NA Score=552;Name=lod=233 NA 8q24.13 NA NA NA NA rs4416808 0.39 0.39 0.354 0.410144 0.3121 0.5863 0.3919 0.3427 0.4335 0.31 0.57 0.38 0.28 0.4126 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.955969 1.955969 NA 0.346395 0.359219 ID=COSM150534;OCCURENCE=1(stomach) 0.283 NA 3.928905 1267 16 24834154 24834154 C T intronic TNRC6A NA NA NA intronic ENSG00000090905 NA NA NA NA NA 16p12.1 NA NA NA NA rs35143376 0.01 0.01 0.012 0.00599042 0.0249 NA 0.0014 0.0008 0.0031 0.03 NA NA 0.0041 0.0198 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 0.125995 NA NA 0.026512 0.005007 NA 0.007 NA 3.928788 1267 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 1267 17 72297119 72297119 G A intronic DNAI2 NA NA NA intronic ENSG00000171595 NA NA NA NA NA 17q25.1 NA NA NA NA rs73995218 0.06 0.06 0.05 0.0710863 0.0716 0.001 0.1138 0.1097 0.0603 0.07 0.0017 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 -0.058377 NA NA NA NA NA 0.051 NA 3.9284 1267 10 11805357 11805357 G A exonic ECHDC3 NA synonymous SNV ECHDC3:NM_024693:exon5:c.G726A:p.S242S exonic ENSG00000134463 NA synonymous SNV ENSG00000134463:ENST00000379215:exon5:c.G726A:p.S242S NA NA 10p14 NA NA NA NA rs10906011 0.51 0.51 0.484 0.515775 0.5875 0.5377 0.5072 0.385 0.6022 0.58 0.49 0.5 0.41 0.555 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.027736 NA NA 0.595814 0.444394 NA 0.558 NA 3.9283526 1267 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 1267 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 1267 2 233925166 233925166 G A UTR5 INPP5D NM_001017915:c.-23G>A,NM_005541:c.-23G>A NA NA UTR5 ENSG00000168918 ENST00000422935:c.-23G>A,ENST00000451407:c.-23G>A NA NA NA NA 2q37.1 NA Name=Oct-2,PAX5-C20,TBP,Pol2,POU2F2,CTCF,Pol2-4H8,NFKB,HEY1,ELF1_(SC-631) NA NA rs1141328 0.42 0.42 0.395 0.409145 0.4374 0.6042 0.4481 0.2201 0.407 0.44 0.58 0.43 0.23 0.5197 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.365573 1.365573 NA 0.44795 0.230769 NA 0.37 NA 3.9282834 1267 1 200534248 200534248 C T exonic KIF14 NA synonymous SNV KIF14:NM_014875:exon25:c.G4020A:p.E1340E exonic ENSG00000118193 NA synonymous SNV ENSG00000118193:ENST00000367350:exon25:c.G4020A:p.E1340E NA NA 1q32.1 NA NA NA NA rs7543730 0.57 0.57 0.546 0.563498 0.5765 0.6895 0.5461 0.4077 0.6431 0.59 0.66 0.56 0.45 0.5717 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 1.933356 1.933356 NA 0.590465 0.429414 NA 0.486 NA 3.9280016 1267 2 232378231 232378231 T C ncRNA_intronic LINC00471 NA NA NA ncRNA_intronic ENSG00000181798 NA NA NA NA Name=Height 2q37.1 NA NA NA NA rs6750795 0.58 0.58 0.553 0.599042 0.5785 0.7411 0.6225 0.4009 0.7249 0.56 0.72 0.61 0.41 0.5916 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.35097 NA NA 0.568605 0.403541 NA 0.522 NA 3.9279616 1267 16 57771126 57771126 G T UTR5 KATNB1 NM_005886:c.-30G>T NA NA UTR5 ENSG00000140854 ENST00000379661:c.-30G>T,ENST00000566785:c.-30G>T,ENST00000569627:c.-30G>T NA NA NA NA 16q21 NA NA NA NA rs1061546 0.1 0.1 0.102 0.105831 0.1342 0.001 0.0865 0.1808 0.0971 0.13 NA 0.09 0.16 0.1227 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 1.785307 1.785307 NA 0.148605 0.187898 NA 0.152 NA 3.9278284 1267 10 11805354 11805354 A G exonic ECHDC3 NA synonymous SNV ECHDC3:NM_024693:exon5:c.A723G:p.A241A exonic ENSG00000134463 NA synonymous SNV ENSG00000134463:ENST00000379215:exon5:c.A723G:p.A241A NA NA 10p14 NA NA NA NA rs12258196 0.51 0.51 0.485 0.515176 0.5875 0.5377 0.5072 0.3828 0.6022 0.58 0.49 0.5 0.41 0.5551 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.844277 NA NA 0.596279 0.444394 NA 0.558 NA 3.9277876 1267 9 131784523 131784523 G A intronic SH3GLB2 NA NA NA intronic ENSG00000148341 NA NA NA NA NA 9q34.11 NA NA NA NA rs117054692 0.02 0.02 0.016 0.00998403 0.0328 0.003 0.0115 0.0023 0.0031 0.03 0.0035 0.01 0.0041 0.017 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 -0.82187 NA NA 0.022442 0.003631 NA 0.072 NA 3.927758 1267 21 46923874 46923874 G A intronic COL18A1 NA NA NA intronic ENSG00000173638,ENSG00000182871 NA NA NA NA NA 21q22.3 NA NA NA NA rs79785371 0.01 0.01 0.011 0.00878594 0.0308 0.001 0.013 0.0023 NA 0.02 NA 0.02 0.01 0.0194 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 -0.49048 NA NA 0.022141 0.00442 NA 0.007 NA 3.927659 1267 17 43344073 43344073 G A ncRNA_intronic MAP3K14-AS1 NA NA NA ncRNA_intronic ENSG00000006062,ENSG00000267278 NA NA NA Score=259;Name=lod=15 NA 17q21.31 NA NA NA NA rs2074293 0.57 0.57 0.565 0.538938 0.5636 0.619 0.6095 0.4327 0.5245 0.57 0.64 0.59 0.48 0.5835 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.01202 NA NA 0.59207 0.489042 NA 0.514 NA 3.9274966 1267 13 95899354 95899354 A G intronic ABCC4 NA NA NA intronic ENSG00000125257 NA NA NA NA NA 13q32.1 NA NA Name=2 NA rs4148437 0.24 0.24 0.205 0.214657 0.4026 0.1895 0.3314 0.0265 0.2188 0.41 0.13 0.34 0.03 0.3047 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.737046 NA NA 0.365233 0.09192 NA 0.341 NA 3.927467 1267 X 19058279 19058279 T C intronic GPR64 NA NA NA intronic ENSG00000173698 NA NA NA NA NA Xp22.13 NA NA NA NA rs41308443 0.01 0.01 0.0217 NA NA NA NA NA NA 0.02 0.0023 0.01 0.0027 0.0293 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 -0.829803 NA NA 0.043259 0.00678 NA NA NA 3.927441 1267 17 40048613 40048613 A G exonic ACLY NA synonymous SNV ACLY:NM_198830:exon15:c.T1659C:p.H553H,ACLY:NM_001096:exon16:c.T1689C:p.H563H exonic ENSG00000131473 NA synonymous SNV ENSG00000131473:ENST00000537919:exon8:c.T876C:p.H292H,ENSG00000131473:ENST00000353196:exon15:c.T1659C:p.H553H,ENSG00000131473:ENST00000393896:exon15:c.T1659C:p.H553H,ENSG00000131473:ENST00000352035:exon16:c.T1689C:p.H563H,ENSG00000131473:ENST00000590151:exon16:c.T1689C:p.H563H Score=509;Name=lod=156 NA 17q21.2 NA NA NA NA rs8065502 0.9 0.9 0.878 0.904353 0.8986 1 0.9337 0.7678 0.9755 0.89 1 0.91 0.77 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 -0.428808 NA NA 0.919186 0.789378 NA 0.942 NA 3.9272806 1267 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 1267 9 446352 446352 G C intronic DOCK8 NA NA NA intronic ENSG00000107099 NA NA NA NA NA 9p24.3 NA Name=GR Name=6 NA rs10814952 0.68 0.68 0.662 0.632987 0.6918 0.9841 0.755 0.2239 0.6769 0.7 0.99 0.76 0.26 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 -0.010409 NA NA 0.693023 0.295279 NA 0.587 NA 3.926477 1267 22 22569448 22569448 T A intergenic TOP3B,VPREB1 dist=232301;dist=29752 NA NA exonic ENSG00000211642 NA nonsynonymous SNV ENSG00000211642:ENST00000390287:exon2:c.T140A:p.I47N NA NA 22q11.22 NA Name=eGFP-FOS,FOSL2 NA NA rs5750741 0.63 0.63 0.599 0.653355 0.6412 0.6786 0.5375 0.612 0.7781 0.64 0.67 0.58 0.61 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 -1.697804 NA 1 0.625526 0.615634 NA 0.616 NA 3.9256074 1267 9 132620364 132620364 T C exonic USP20 NA synonymous SNV USP20:NM_001008563:exon5:c.T171C:p.F57F,USP20:NM_001110303:exon5:c.T171C:p.F57F,USP20:NM_006676:exon5:c.T171C:p.F57F exonic ENSG00000136878 NA synonymous SNV ENSG00000136878:ENST00000315480:exon5:c.T171C:p.F57F,ENSG00000136878:ENST00000358355:exon5:c.T171C:p.F57F,ENSG00000136878:ENST00000372429:exon5:c.T171C:p.F57F Score=573;Name=lod=283 NA 9q34.11 NA NA NA NA rs10819568 0.9 0.9 0.876 0.884385 0.9215 0.997 0.9164 0.7337 0.911 0.92 0.99 0.9 0.74 0.9154 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 0.278417 NA NA 0.904202 0.785543 NA 0.884 NA 3.9255646 1267 1 112020453 112020453 C G intronic C1orf162 NA NA NA intronic ENSG00000143110 NA NA NA NA NA 1p13.2 NA NA NA NA rs17027773 0.12 0.12 0.112 0.130791 0.0746 0.1002 0.1225 0.1732 0.1687 0.08 0.12 0.12 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 0.255536 NA NA NA NA NA 0.123 NA 3.9254 1267 19 4297968 4297968 C T intronic TMIGD2 NA NA NA intronic ENSG00000167664 NA NA NA NA NA 19p13.3 NA Name=CTCF,CTCF_(SC-5916),Rad21 NA NA rs6510801 0.48 0.48 0.465 0.466054 0.3439 0.5585 0.3674 0.6853 0.2699 0.35 0.55 0.36 0.7 0.3796 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 -0.622402 NA NA 0.351163 0.59419 NA 0.507 NA 3.925337 1267 8 24256579 24256579 G T intronic ADAMDEC1 NA NA NA ncRNA_intronic ENSG00000253535 NA NA NA NA NA 8p21.2 NA NA NA NA rs2291578 0.17 0.17 0.166 0.16274 0.1322 0.3879 0.1225 0.0242 0.1779 0.13 0.39 0.1 0.04 0.1525 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679671 NA NA 0.123605 0.04108 NA 0.109 NA 3.9250283 1268 11 68201007 68201007 C T intronic LRP5 NA NA NA intronic ENSG00000162337 NA NA NA NA NA 11q13.2 NA NA NA NA rs12417014 0.09 0.09 0.098 0.0874601 0.0755 0.0516 0.0562 0.1838 0.0286 0.07 0.04 0.07 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 -0.727074 NA NA NA NA NA 0.116 NA 3.9245 1268 17 66992027 66992027 A T intronic ABCA9 NA NA NA intronic ENSG00000154258 NA NA NA NA NA 17q24.2 NA NA NA NA rs117807867 0.01 0.01 0.011 0.00858626 0.0288 NA 0.0159 0.0008 0.002 0.02 NA 0.02 0.002 0.0179 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 0.319674 NA NA 0.02907 0.004539 NA 0.022 NA 3.92423 1268 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 1268 9 132631680 132631680 T C exonic USP20 NA synonymous SNV USP20:NM_001008563:exon13:c.T1368C:p.L456L,USP20:NM_001110303:exon13:c.T1368C:p.L456L,USP20:NM_006676:exon13:c.T1368C:p.L456L exonic ENSG00000136878 NA synonymous SNV ENSG00000136878:ENST00000315480:exon13:c.T1368C:p.L456L,ENSG00000136878:ENST00000358355:exon13:c.T1368C:p.L456L,ENSG00000136878:ENST00000372429:exon13:c.T1368C:p.L456L Score=594;Name=lod=347 NA 9q34.11 NA NA NA NA rs6478920 0.9 0.9 0.874 0.888978 0.9215 0.997 0.9207 0.7496 0.91 0.92 0.99 0.9 0.75 0.9168 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 1.251619 1.251619 NA 0.904525 0.798091 ID=COSM455466,COSM455467,COSM1489729;OCCURENCE=1(breast) 0.891 NA 3.9238416 1268 10 135160950 135160950 C T intronic PRAP1 NA NA NA ncRNA_intronic ENSG00000226699 NA NA NA NA NA 10q26.3 NA Name=TCF4,SP1,TAF1,HEY1 Name=15 NA rs4838721 0.76 0.76 0.737 0.720647 0.8101 0.9246 0.7493 0.4236 0.7996 0.82 0.92 0.75 0.47 0.7919 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 0.475364 NA NA 0.807558 0.47685 NA 0.725 NA 3.9237753 1268 1 117603188 117603188 G T intronic TTF2 NA NA NA intronic ENSG00000116830 NA NA NA NA NA 1p13.1 NA Name=Pol2,E2F6_(H-50),E2F6,NFKB,Pol2-4H8,Max,c-Myc,Mxi1_(bHLH) Name=2 NA rs2244406 0.72 0.72 0.688 0.716254 0.6938 0.9415 0.7723 0.5061 0.7515 0.68 0.94 0.78 0.5 0.7013 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 0.190707 NA NA 0.681163 0.542215 NA 0.732 NA 3.923737 1268 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 1268 17 57322954 57322954 G A intronic GDPD1 NA NA NA intronic ENSG00000153982 NA NA NA NA NA 17q22 NA NA NA NA rs9912727 0.09 0.09 0.101 0.110423 0.0119 0.0645 0.1614 0.2436 0.0429 0.01 0.08 0.11 0.22 0.0534 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.886271 NA NA 0.012453 0.211984 NA 0.094 NA 3.922247 1268 11 22272473 22272473 A T intronic ANO5 NA NA NA intronic ENSG00000171714 NA NA NA NA NA 11p14.3 NA NA NA NA rs11026476 0.01 0.01 0.008 0.00798722 0.0278 NA 0.0101 0.003 0.001 0.03 NA 0.01 0.01 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 -0.41655 NA NA 0.030116 0.006809 NA NA NA 3.921884 1268 1 151867560 151867560 G A exonic THEM4 NA synonymous SNV THEM4:NM_053055:exon2:c.C210T:p.D70D exonic ENSG00000159445 NA synonymous SNV ENSG00000159445:ENST00000368814:exon2:c.C210T:p.D70D,ENSG00000159445:ENST00000471464:exon2:c.C210T:p.D70D,ENSG00000159445:ENST00000489410:exon2:c.C210T:p.D70D NA NA 1q21.3 Score=806;Name=V$IRF7_01 NA NA NA rs3762427 0.93 0.93 0.94 0.923123 0.9175 0.9504 0.9092 0.9047 0.9356 0.93 0.95 0.89 0.92 0.9148 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 -0.003342 NA NA 0.912634 0.909215 NA 0.935 NA 3.9217326 1268 15 73884282 73884282 C T intronic NPTN NA NA NA intronic ENSG00000156642 NA NA NA NA NA 15q24.1 NA NA NA NA rs117241608 0.02 0.02 0.013 0.0109824 0.0268 NA 0.0259 0.0008 0.0092 0.03 NA 0.04 0.002 0.0232 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 1.052381 NA NA 0.028392 0.005232 NA 0.029 NA 3.921608 1268 22 50499967 50499967 T C UTR3 MLC1 NM_139202:c.*45A>G,NM_015166:c.*45A>G NA NA UTR3 ENSG00000100427 ENST00000311597:c.*45A>G,ENST00000395876:c.*45A>G,ENST00000538737:c.*45A>G,ENST00000431262:c.*45A>G,ENST00000535444:c.*45A>G,ENST00000450140:c.*45A>G NA NA NA NA 22q13.33 NA NA NA NA rs2072873 0.15 0.15 0.14 0.150359 0.1282 0.1677 0.1383 0.1717 0.135 0.13 0.21 0.12 0.13 0.146 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.314205 NA NA 0.137823 0.167953 NA 0.181 NA 3.9213104 1268 2 73928366 73928366 G C exonic NAT8B NA unknown UNKNOWN ncRNA_exonic ENSG00000204872 NA NA NA NA NA 2p13.1 NA NA Name=13 NA rs2012574 0.56 0.56 0.51 0.545128 0.668 0.6448 0.5793 0.2428 0.7004 0.66 0.64 0.6 0.26 0.6072 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 0.101842 NA NA 0.637072 0.324361 NA 0.543 NA 3.9210613 1268 6 70981794 70981794 A G intronic COL9A1 NA NA NA intronic ENSG00000112280 NA NA NA NA NA 6q13 NA NA NA NA rs16868869 0.06 0.06 0.05 0.0559105 0.0199 0.1349 0.0533 0.0522 0.0184 0.02 0.12 0.06 0.05 0.0371 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 1.51799 1.51799 NA 0.022098 0.047684 NA 0.072 NA 3.920902 1268 1 158736215 158736215 G A exonic OR6N1 NA synonymous SNV OR6N1:NM_001005185:exon1:c.C258T:p.L86L exonic ENSG00000197403 NA synonymous SNV ENSG00000197403:ENST00000335094:exon1:c.C258T:p.L86L Score=500;Name=lod=143 NA 1q23.1 NA NA NA NA rs6666753 0.87 0.87 0.858 0.8125 0.9473 0.9087 0.9308 0.73 0.6022 0.94 0.91 0.93 0.68 0.8701 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 0.721969 NA NA 0.928372 0.739446 NA 0.855 NA 3.9208946 1268 1 214638172 214638172 C T UTR5 PTPN14 NM_005401:c.-26G>A NA NA UTR5 ENSG00000152104 ENST00000366956:c.-26G>A NA NA NA NA 1q41 Score=751;Name=V$TAXCREB_02 Name=CTCF NA NA rs10864100 0.82 0.82 0.827 0.826078 0.7992 0.7847 0.8141 0.9206 0.7771 0.79 0.77 0.82 0.91 0.8081 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 2.847748 2.847748 NA 0.805187 0.891462 NA 0.877 NA 3.9208464 1268 7 2265020 2265020 C A intronic MAD1L1 NA NA NA intronic ENSG00000002822 NA NA NA NA NA 7p22.3 NA NA NA NA rs74431414 0.01 0.01 0.015 0.0111821 0.0298 NA 0.0231 NA 0.0102 0.03 NA 0.02 NA 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 -0.74698 NA NA 0.029856 0.003953 NA NA NA 3.920844 1268 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 1268 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 1268 6 33652542 33652542 C T intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs77322067 0.01 0.01 0.014 0.00898562 0.0258 NA 0.0101 0.0091 NA 0.02 NA 0.01 0.0041 0.0211 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 0.887814 NA NA 0.032674 0.023831 NA 0.007 NA 3.920426 1268 10 70696713 70696713 C T exonic DDX50 NA synonymous SNV DDX50:NM_024045:exon12:c.C1617T:p.Y539Y exonic ENSG00000107625 NA synonymous SNV ENSG00000107625:ENST00000373585:exon12:c.C1617T:p.Y539Y Score=672;Name=lod=715 NA 10q22.1 NA NA NA NA rs5030895 0.95 0.95 0.952 0.953674 0.9066 0.9871 0.9568 0.9834 0.9254 0.9 1 0.95 0.98 0.9321 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.785807 NA NA 0.907907 0.970722 NA 0.949 NA 3.9200596 1268 16 30390314 30390314 T C intronic SEPT1,ZNF48 NA NA NA intronic ENSG00000180035,ENSG00000180096,ENSG00000270466 NA NA NA NA NA 16p11.2 NA Name=Egr-1,ZBTB7A_(SC-34508),HMGN3,Pol2-4H8,HEY1,Pol2,USF1_(SC-8983) 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 1268 9 130341253 130341253 A G UTR5 FAM129B NM_001035534:c.-37T>C NA NA UTR5 ENSG00000136830 ENST00000373314:c.-37T>C NA NA NA NA 9q34.11 NA Name=Mxi1_(bHLH),SP1,BAF155,GR,AP-2alpha,PU.1,ELK4,CTCF,Ini1,Pol2,TAF1 Name=140 NA rs4240420 0.84 0.84 0.841 0.832468 0.8062 0.7133 0.8631 0.9705 0.774 0.82 0.74 0.85 0.97 0.8177 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 0.650366 NA NA 0.789767 0.939855 NA 0.768 NA 3.9196664 1268 14 35240664 35240664 C G intronic BAZ1A NA NA NA intronic ENSG00000198604 NA NA NA NA NA 14q13.1 NA NA NA NA rs41309244 0.04 0.04 0.041 0.0385383 0.0805 NA 0.049 0.0023 0.0767 0.08 NA 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 -0.588867 NA NA NA NA NA 0.014 NA 3.9195 1268 11 63767249 63767249 C T intronic MACROD1 NA NA NA intronic ENSG00000133315,ENSG00000167770 NA NA NA NA NA 11q13.1 NA Name=ZNF263,Pol2,Pol2-4H8 NA NA rs11600062 0.19 0.19 0.196 0.170927 0.3976 0.0456 0.1527 0.0189 0.2853 0.4 0.04 0.19 0.02 0.3199 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5596 NA NA 0.363216 0.072732 NA 0.123 NA 3.919284 1268 11 404468 404468 G A intronic PKP3 NA NA NA exonic ENSG00000184363 NA unknown UNKNOWN NA NA 11p15.5 NA NA NA NA rs11246148 0.35 0.35 0.34 0.360823 0.1769 0.5823 0.2565 0.3517 0.408 0.18 0.62 0.26 0.36 0.2394 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059807 NA NA 0.164669 0.325615 NA 0.304 NA 3.919031 1268 20 5988095 5988095 A G intronic CRLS1 NA NA NA intronic ENSG00000088766 NA NA NA Score=548;Name=lod=224 NA 20p12.3 NA NA Name=45 NA rs4813786 0.72 0.72 0.755 0.738618 0.7068 0.5774 0.6095 0.9682 0.7188 0.72 0.59 0.59 0.97 0.6946 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 0.829702 NA NA 0.679648 0.909439 NA 0.688 NA 3.918952 1268 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 1268 3 45637253 45637253 C T exonic LIMD1 NA synonymous SNV LIMD1:NM_014240:exon1:c.C882T:p.T294T exonic ENSG00000144791 NA synonymous SNV ENSG00000144791:ENST00000273317:exon1:c.C882T:p.T294T,ENSG00000144791:ENST00000440097:exon1:c.C882T:p.T294T NA NA 3p21.31 NA NA NA NA rs267237 0.68 0.68 0.669 0.685104 0.5497 0.9345 0.6542 0.5915 0.7157 0.56 0.92 0.64 0.62 0.6245 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 -1.115717 NA NA 0.573721 0.596913 ID=COSM446566;OCCURENCE=1(breast) 0.558 NA 3.9187456 1268 19 16040292 16040292 A G exonic CYP4F11 NA synonymous SNV CYP4F11:NM_021187:exon2:c.T318C:p.I106I,CYP4F11:NM_001128932:exon3:c.T318C:p.I106I exonic ENSG00000171903 NA synonymous SNV ENSG00000171903:ENST00000326742:exon2:c.T318C:p.I106I,ENSG00000171903:ENST00000402119:exon2:c.T318C:p.I106I,ENSG00000171903:ENST00000248041:exon3:c.T318C:p.I106I NA NA 19p13.12 NA NA NA NA rs3765070 0.51 0.51 0.485 0.492212 0.5865 0.379 0.5216 0.447 0.5521 0.61 0.37 0.51 0.52 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 -0.057801 NA NA 0.597326 0.446437 NA 0.522 NA 3.9186406 1268 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 1268 5 86627138 86627138 G A intronic RASA1 NA NA NA intronic ENSG00000145715 NA NA NA NA NA 5q14.3 NA NA NA NA rs13157168 0.01 0.01 0.007 0.0091853 0.0258 NA 0.013 0.0015 0.0092 0.03 NA 0.02 0.002 0.0223 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 0.052279 NA NA 0.033488 0.004993 NA NA NA 3.918412 1268 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 1268 9 123156761 123156761 G C intronic CDK5RAP2 NA NA NA intronic ENSG00000136861 NA NA NA NA NA 9q33.2 NA Name=CEBPB,STAT3,TCF4,p300,CTCF Name=100 NA rs4410972 0.71 0.71 0.666 0.6875 0.7048 0.8145 0.7493 0.5643 0.6616 0.71 0.81 0.75 0.57 0.6951 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 -0.382143 NA NA 0.68186 0.564004 NA 0.703 NA 3.91824 1268 19 18547305 18547305 T A intronic ISYNA1 NA NA NA intronic ENSG00000105655 NA NA NA NA NA 19p13.11 NA NA Name=14 NA rs4595905 0.43 0.43 0.421 0.473442 0.3479 0.2153 0.3732 0.8343 0.4519 0.35 0.24 0.41 0.8 0.3916 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 -0.033357 NA NA 0.342442 0.756015 NA 0.384 NA 3.918058 1268 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 1268 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 1268 19 6825032 6825032 T C intronic VAV1 NA NA NA intronic ENSG00000141968 NA NA NA NA NA 19p13.3 NA NA Name=2 NA rs12979659 0.29 0.29 0.247 0.294129 0.3539 0.3948 0.3559 0.0234 0.4509 0.35 0.38 0.34 0.04 0.3621 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228641 NA NA 0.366279 0.086246 NA 0.174 NA 3.917721 1268 19 20150175 20150175 G C UTR5 ZNF682 NM_033196:c.-21C>G NA NA UTR5 ENSG00000197124 ENST00000596019:c.-21C>G,ENST00000397165:c.-21C>G,ENST00000595736:c.-32093C>G,ENST00000593468:c.-21C>G,ENST00000595534:c.-21C>G NA NA NA NA 19p12 NA Name=GABP,Pol2-4H8,TAF1,c-Jun,NFKB,ELF1_(SC-631),HEY1,HA-E2F1,Pol2,TAF7_(SQ-8),TBP,YY1_(C-20) Name=26 NA rs2286922 0.73 0.73 0.711 0.763778 0.8161 0.5466 0.8055 0.7678 0.8988 0.81 0.52 0.84 0.76 0.7963 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 0.419015 NA NA 0.803405 0.779567 NA 0.79 NA 3.9175284 1268 1 19403221 19403221 C T intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs76098105 0.01 0.01 0.015 0.0105831 0.0318 NA 0.0159 0.0015 0.0082 0.03 NA 0.01 0.002 0.0223 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 1.651977 1.651977 NA 0.028372 0.005447 NA NA NA 3.917528 1268 16 25944754 25944754 T G intronic HS3ST4 NA NA NA intronic ENSG00000182601 NA NA NA NA NA 16p12.1 NA NA NA NA rs11647484 0.04 0.04 0.034 0.0521166 0.0825 0.0198 0.0303 0.0038 0.135 0.08 0.02 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 1.398858 1.398858 NA NA NA NA 0.036 NA 3.9175 1268 18 22029928 22029928 C G intronic IMPACT NA NA NA intronic ENSG00000154059 NA NA NA NA NA 18q11.2 NA NA NA NA rs2739104 0.05 0.05 0.06 0.0628994 0.0199 0.0099 0.0231 0.1921 0.0153 0.02 0.01 0.03 0.19 0.0318 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 -0.415736 NA NA 0.031047 0.144349 NA 0.087 NA 3.917253 1268 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 1268 9 115095743 115095743 T C ncRNA_intronic MIR3134 NA NA NA intronic ENSG00000119314 NA NA NA NA NA 9q32 NA Name=TBP,Pol2(b),PAX5-C20,Sin3Ak-20,ETS1,ELF1_(SC-631),HEY1,Pol2-4H8,TAF1,TAF7_(SQ-8),Pol2(phosphoS2),Pol2 Name=148 NA rs7040447 0.82 0.82 0.823 0.856629 0.7932 0.7341 0.8501 0.9486 0.9284 0.8 0.73 0.85 0.93 0.8302 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 1.088267 NA NA 0.792697 0.918488 NA 0.029 NA 3.9172363 1268 9 115567184 115567184 T C exonic SNX30 NA synonymous SNV SNX30:NM_001012994:exon2:c.T285C:p.V95V exonic ENSG00000148158 NA synonymous SNV ENSG00000148158:ENST00000374232:exon2:c.T285C:p.V95V Score=519;Name=lod=171 NA 9q32 NA NA NA NA rs1891402 0.95 0.95 0.95 0.958866 0.9095 0.999 0.9654 0.9796 0.9356 0.9 1 0.97 0.98 0.9279 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.193628 NA NA 0.912146 0.971007 NA 0.928 NA 3.9171206 1268 2 209104740 209104740 G C intronic IDH1 NA NA NA intronic ENSG00000138413 NA NA NA NA NA 2q34 NA NA NA NA rs16840789 0.01 0.01 0.015 0.0131789 0.0308 NA 0.0115 0.0015 0.0256 0.03 NA 0.01 0.002 0.0232 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 0.659244 NA NA 0.028953 0.006809 NA NA NA 3.917047 1268 1 7870048 7870048 T C exonic PER3 NA synonymous SNV PER3:NM_016831:exon11:c.T1335C:p.S445S exonic ENSG00000049246 NA synonymous SNV ENSG00000049246:ENST00000361923:exon11:c.T1335C:p.S445S,ENSG00000049246:ENST00000377532:exon11:c.T1338C:p.S446S Score=376;Name=lod=45 NA 1p36.23 NA NA NA NA rs228669 0.86 0.86 0.882 0.878994 0.9324 0.7232 0.7608 0.972 0.9427 0.93 0.74 0.8 0.96 0.8916 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 0.719554 NA NA 0.925698 0.960281 NA 0.884 NA 3.9169686 1268 20 40944658 40944658 C T intronic PTPRT NA NA NA intronic ENSG00000196090 NA NA NA NA NA 20q12 NA NA NA NA rs41279244 0.01 0.01 0.01 0.00798722 0.0258 NA 0.0086 NA 0.0082 0.03 NA 0.01 NA 0.0217 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 0.504212 NA NA 0.035568 0.007143 NA 0.007 NA 3.916932 1268 14 21928338 21928338 C T UTR3 RAB2B NM_032846:c.*1017G>A,NM_001163380:c.*1017G>A NA NA UTR3 ENSG00000129472 ENST00000397762:c.*1017G>A NA NA NA NA 14q11.2 NA NA NA NA rs1045812 0.2 0.2 0.176 0.19389 0.1421 0.0645 0.2651 0.3994 0.0521 0.16 0.06 0.27 0.38 0.1496 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.065739 NA NA 0.124812 0.368721 NA 0.21 NA 3.9168214 1268 14 21928383 21928383 T C UTR3 RAB2B NM_032846:c.*972A>G,NM_001163380:c.*972A>G NA NA UTR3 ENSG00000129472 ENST00000397762:c.*972A>G NA NA NA NA 14q11.2 NA NA NA NA rs1045811 0.2 0.2 0.171 0.194289 0.1421 0.0655 0.2651 0.3994 0.0532 0.16 0.06 0.27 0.38 0.1496 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.04822 NA NA 0.124812 0.368721 NA 0.21 NA 3.9168214 1268 1 24507213 24507213 C T intronic IFNLR1 NA NA NA intronic ENSG00000185436 NA NA NA NA NA 1p36.11 NA NA NA NA rs12751091 0.03 0.03 0.043 0.0535144 0.0229 0.0079 0.0202 0.1029 0.089 0.02 0.01 0.02 0.09 0.0358 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 0.467284 NA NA 0.024535 0.101906 NA 0.007 NA 3.916765 1268 19 55816678 55816678 C T intronic BRSK1 NA NA NA intronic ENSG00000160469 NA NA NA NA NA 19q13.42 NA Name=ZNF263 NA NA rs1172821 0.3 0.3 0.242 0.359026 0.3559 0.0982 0.4049 0.4357 0.4949 0.36 0.07 0.41 0.41 0.363 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.007196 2.007196 NA 0.365581 0.337267 NA 0.297 NA 3.915519 1268 9 2191189 2191189 G T intronic SMARCA2 NA NA NA intronic ENSG00000080503 NA NA NA NA NA 9p24.3 NA NA NA NA rs10965149 0.18 0.18 0.147 0.217851 0.0845 0.2143 0.2032 0.3011 0.2566 0.08 0.2 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 -0.049277 NA NA NA NA NA 0.094 NA 3.9155 1268 4 187534363 187534363 G A exonic FAT1 NA synonymous SNV FAT1:NM_005245:exon13:c.C9363T:p.N3121N exonic ENSG00000083857 NA synonymous SNV ENSG00000083857:ENST00000441802:exon13:c.C9363T:p.N3121N NA NA 4q35.2 NA NA NA NA rs2249916 0.65 0.65 0.644 0.611422 0.5805 0.6657 0.6571 0.7398 0.3814 0.57 0.71 0.66 0.71 0.5913 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.182488 NA NA 0.579638 0.709701 NA 0.667 NA 3.9152286 1268 2 86281222 86281222 G A intronic POLR1A NA NA NA intronic ENSG00000068654 NA NA NA NA NA 2p11.2 NA NA NA NA rs141919466 0.01 0.01 0.009 0.0127796 0.0348 NA 0.013 0.0008 0.0194 0.04 NA 0.01 NA 0.021 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 0.386701 NA NA 0.02903 0.005278 NA 0.007 NA 3.91517 1268 2 238261112 238261112 G A intronic COL6A3 NA NA NA intronic ENSG00000163359 NA NA NA NA NA 2q37.3 NA NA Name=22 NA rs4663726 0.5 0.5 0.558 0.555711 0.5915 0.6647 0.5504 0.5234 0.454 0.49 0.6 0.47 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 0.32719 NA NA 0.4934 0.421243 NA NA NA 3.9151 1269 11 4159466 4159466 G A exonic RRM1 NA synonymous SNV RRM1:NM_001033:exon19:c.G2232A:p.A744A exonic ENSG00000167325 NA synonymous SNV ENSG00000167325:ENST00000534285:exon13:c.G1566A:p.A522A,ENSG00000167325:ENST00000537197:exon13:c.G1218A:p.A406A,ENSG00000167325:ENST00000423050:exon18:c.G1941A:p.A647A,ENSG00000167325:ENST00000300738:exon19:c.G2232A:p.A744A Score=639;Name=lod=525 NA 11p15.4 NA NA NA NA rs1042858 0.84 0.84 0.843 0.845647 0.9294 0.7619 0.8256 0.7965 0.9264 0.93 0.78 0.84 0.78 0.8924 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 1.840017 1.840017 NA 0.929967 0.821672 NA 0.616 NA 3.9148996 1269 16 2331430 2331430 A G exonic ABCA3 NA synonymous SNV ABCA3:NM_001089:exon27:c.T4116C:p.S1372S exonic ENSG00000167972 NA synonymous SNV ENSG00000167972:ENST00000382381:exon26:c.T3942C:p.S1314S,ENSG00000167972:ENST00000301732:exon27:c.T4116C:p.S1372S NA NA 16p13.3 NA Name=Sin3Ak-20,NRSF NA NA rs149532 0.9 0.9 0.888 0.900958 0.9175 1 0.9179 0.7595 0.9611 0.92 1 0.88 0.74 0.9192 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871626 NA NA 0.915233 0.7798 NA 0.884 NA 3.9147336 1269 20 62126128 62126128 G C intronic EEF1A2 NA NA NA intronic ENSG00000101210 NA NA NA NA NA 20q13.33 NA NA NA NA rs149125493 0.02 0.02 0.011 0.0105831 0.0328 NA 0.0274 0.0008 NA 0.03 NA 0.03 0.002 0.0244 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 -0.540206 NA NA 0.028413 0.004163 NA 0.014 NA 3.914387 1269 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 1269 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 1269 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 1269 5 149602608 149602608 A G exonic CAMK2A NA synonymous SNV CAMK2A:NM_171825:exon17:c.T1377C:p.D459D,CAMK2A:NM_015981:exon18:c.T1410C:p.D470D exonic ENSG00000070808 NA synonymous SNV ENSG00000070808:ENST00000348628:exon17:c.T1377C:p.D459D,ENSG00000070808:ENST00000398376:exon18:c.T1410C:p.D470D Score=626;Name=lod=466 NA 5q32 NA NA NA NA rs2241694 0.92 0.92 0.922 0.910743 0.9165 0.8423 0.9697 0.9977 0.816 0.91 0.82 0.98 0.99 0.9185 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 1.56525 1.56525 NA 0.918336 0.983516 NA 0.906 NA 3.9133306 1269 19 50735340 50735340 C T intronic MYH14 NA NA NA intronic ENSG00000105357 NA NA NA NA NA 19q13.33 NA NA NA NA rs11666328 0.32 0.32 0.289 0.321486 0.3598 0.3462 0.3228 0.2194 0.3937 0.35 0.36 0.35 0.22 0.3588 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.737585 NA NA 0.368153 0.23097 NA 0.355 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037019.1;CLNDSDB=.;CLNDSDBID=. 3.913247 1269 12 79685913 79685913 C A intronic SYT1 NA NA NA intronic ENSG00000067715 NA NA NA Score=636;Name=lod=514 NA 12q21.2 NA NA NA NA rs2272500 0.39 0.39 0.396 0.41234 0.3509 0.5615 0.3055 0.3351 0.502 0.35 0.56 0.33 0.31 0.3742 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.38305 1.38305 NA 0.36186 0.332501 NA 0.457 NA 3.91304 1269 X 30261158 30261158 G C exonic MAGEB4 NA synonymous SNV MAGEB4:NM_002367:exon1:c.G906C:p.L302L exonic ENSG00000120289 NA synonymous SNV ENSG00000120289:ENST00000378982:exon1:c.G906C:p.L302L NA NA Xp21.2 NA NA NA NA rs2856733 0.81 0.81 0.78776 NA NA NA NA NA NA 0.89 0.57 0.89 0.9 0.8567 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 -0.608383 NA NA 0.896998 0.895121 NA 0.681 NA 3.9129686 1269 12 53085262 53085262 C A intronic KRT77 NA NA NA intronic ENSG00000189182 NA NA NA NA NA 12q13.13 NA NA Name=5 NA rs2684339 0.41 0.41 0.411 0.377196 0.3738 0.5923 0.2795 0.2958 0.3384 0.38 0.61 0.31 0.31 0.3741 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.56159 NA NA 0.339316 0.314753 NA 0.435 NA 3.912784 1269 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 1269 19 12875807 12875807 A C intronic HOOK2 NA NA NA intronic ENSG00000095066 NA NA NA NA NA 19p13.2 NA NA NA NA rs115585485 0.06 0.06 0.057 0.0603035 0.0179 0.0238 0.0764 0.1498 0.0092 0.02 0.03 0.06 0.16 0.0431 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.684953 NA NA 0.026254 0.148489 NA 0.029 NA 3.912746 1269 X 229425 229425 G A intronic GTPBP6 NA NA NA intronic ENSG00000178605 NA NA NA NA NA Xp22.33 NA NA NA NA rs35593800 0.06 0.06 0.05485 NA NA NA NA NA NA 0.04 0.08 0.01 0.1 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 -0.605528 NA NA 0.040645 0.080262 NA 0.058 NA 3.912655 1269 13 98829176 98829176 T C exonic RNF113B NA synonymous SNV RNF113B:NM_178861:exon1:c.A315G:p.P105P exonic ENSG00000139797 NA synonymous SNV ENSG00000139797:ENST00000267291:exon1:c.A315G:p.P105P Score=702;Name=lod=953 NA 13q32.2 NA NA NA NA rs628778 0.79 0.79 0.764 0.75 0.9274 0.9345 0.8372 0.3192 0.8978 0.93 0.93 0.84 0.38 0.8858 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 0.649281 NA NA 0.940814 0.430776 NA 0.71 NA 3.9126526 1269 20 10389218 10389218 T C intronic MKKS NA NA NA intronic ENSG00000125863 NA NA NA NA NA 20p12.2 NA NA NA NA rs6133909 0.17 0.17 0.171 0.194089 0.0875 0.2569 0.1153 0.2148 0.2669 0.09 0.24 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 2.005175 2.005175 NA NA NA NA 0.152 NA 3.9125 1269 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 1269 1 16558975 16558975 C T intronic RSG1 NA NA NA intronic ENSG00000132881 NA NA NA NA NA 1p36.13 NA NA NA NA rs116630059 0.01 0.01 0.006 0.0107827 0.0348 NA 0.0101 0.0038 0.0072 0.04 NA 0.01 0.01 0.0217 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 -0.987943 NA NA 0.031279 0.006128 NA 0.022 NA 3.912221 1269 12 1909243 1909243 G A intronic CACNA2D4 NA NA NA intronic ENSG00000151062 NA NA NA NA NA 12p13.33 NA NA NA NA rs151123177 0.02 0.02 0.012 0.0103834 0.0308 NA 0.0187 0.0015 0.0061 0.03 NA 0.03 0.002 0.0302 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 0.27512 NA NA 0.026801 0.005497 NA 0.014 NA 3.912199 1269 X 30261002 30261002 A G exonic MAGEB4 NA synonymous SNV MAGEB4:NM_002367:exon1:c.A750G:p.V250V exonic ENSG00000120289 NA synonymous SNV ENSG00000120289:ENST00000378982:exon1:c.A750G:p.V250V NA NA Xp21.2 NA NA NA NA rs2071311 0.81 0.81 0.78617 NA NA NA NA NA NA 0.89 0.57 0.89 0.9 0.8576 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 0.292765 NA NA 0.896998 0.895121 ID=COSM1132336;OCCURENCE=1(prostate),1(large_intestine) 0.681 NA 3.9120686 1269 6 133138600 133138600 G A intronic RPS12 NA NA NA intronic ENSG00000112306 NA NA NA NA NA 6q23.2 NA NA NA NA rs117573035 0.02 0.02 0.017 0.0111821 0.0328 NA 0.013 NA 0.0143 0.03 NA 0.02 NA 0.0208 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 -1.042592 NA NA 0.034419 0.004312 NA 0.007 NA 3.911981 1269 2 73928098 73928098 C G exonic NAT8B NA unknown UNKNOWN ncRNA_exonic ENSG00000204872 NA NA NA Score=445;Name=lod=86 NA 2p13.1 NA NA NA NA rs2001490 0.58 0.58 0.532 0.577276 0.668 0.6448 0.5908 0.3631 0.6943 0.66 0.64 0.61 0.36 0.6147 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 0.336039 NA NA 0.638721 0.409669 NA 0.587 NA 3.9119123 1269 22 24837301 24837301 T C exonic ADORA2A NA synonymous SNV ADORA2A:NM_000675:exon3:c.T1083C:p.Y361Y exonic ENSG00000128271 NA synonymous SNV ENSG00000128271:ENST00000337539:exon3:c.T1083C:p.Y361Y,ENSG00000128271:ENST00000444262:exon3:c.T1083C:p.Y361Y NA NA 22q11.23 NA NA NA NA rs5751876 0.52 0.52 0.47 0.442292 0.6093 0.4722 0.5418 0.3185 0.3364 0.61 0.51 0.57 0.34 0.5453 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.943786 NA NA 0.600372 0.357467 NA 0.514 NA 3.9116946 1269 4 142640538 142640538 T C UTR5 IL15 NM_172175:c.-1764T>C,NM_000585:c.-80T>C NA NA UTR5 ENSG00000164136 ENST00000320650:c.-80T>C,ENST00000296545:c.-80T>C,ENST00000514653:c.-1764T>C,ENST00000529613:c.-80T>C,ENST00000477265:c.-1764T>C NA NA NA NA 4q31.21 Score=821;Name=V$PBX1_02 NA NA NA rs2254514 0.83 0.83 0.821 0.834465 0.7048 0.9931 0.83 0.826 0.819 0.71 1 0.81 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 -0.438908 NA NA 0.716845 0.825867 NA 0.855 NA 3.9116884 1269 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 1269 7 6505901 6505901 T C exonic KDELR2 NA synonymous SNV KDELR2:NM_006854:exon4:c.A405G:p.L135L exonic ENSG00000136240 NA synonymous SNV ENSG00000136240:ENST00000258739:exon4:c.A405G:p.L135L Score=516;Name=lod=166 NA 7p22.1 NA NA NA NA rs2230263 0.85 0.85 0.854 0.814497 0.9463 0.5853 0.8602 0.9811 0.6575 0.94 0.58 0.9 0.98 0.8752 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 3.072569 3.072569 NA 0.933953 0.976169 NA 0.899 NA 3.9112136 1269 2 71417065 71417065 G T exonic PAIP2B NA synonymous SNV PAIP2B:NM_020459:exon3:c.C225A:p.P75P exonic ENSG00000124374 NA synonymous SNV ENSG00000124374:ENST00000244221:exon3:c.C225A:p.P75P Score=677;Name=lod=754 NA 2p13.3 NA NA NA NA rs357777 0.95 0.95 0.95 0.957668 0.9076 0.997 0.9438 0.9622 0.9724 0.91 1 0.93 0.96 0.9346 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.268812 1.268812 NA 0.913528 0.945372 NA 0.978 NA 3.9109386 1269 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 1269 19 6374155 6374155 T G intronic ALKBH7 NA NA NA intronic ENSG00000125652 NA NA NA NA NA 19p13.3 NA NA NA NA rs74998035 0.04 0.04 0.027 0.0273562 0.0895 0.001 0.0274 0.0038 0.0225 0.08 0.0017 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 0.570579 NA NA NA NA NA 0.036 NA 3.9105 1269 19 6381313 6381313 T C intronic GTF2F1 NA NA NA intronic ENSG00000125651 NA NA NA NA NA 19p13.3 NA NA NA NA rs45464894 0.04 0.04 0.026 0.0297524 0.0895 0.001 0.0274 0.0129 0.0225 0.08 0.0017 0.03 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 -0.313617 NA NA NA NA NA 0.029 NA 3.9105 1269 21 46021607 46021607 A G exonic KRTAP10-7 NA synonymous SNV KRTAP10-7:NM_198689:exon2:c.A1071G:p.P357P exonic ENSG00000205441 NA synonymous SNV ENSG00000205441:ENST00000380102:exon1:c.A1086G:p.P362P NA NA 21q22.3 NA NA Name=3 NA rs370092 0.82 0.82 0.793 0.777157 0.9364 0.8254 0.915 0.5431 0.7822 0.94 0.81 0.91 0.58 0.8818 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 -1.660407 NA NA 0.938119 0.606778 NA 0.428 NA 3.9103476 1269 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 1269 12 6926363 6926363 T C exonic CD4 NA synonymous SNV CD4:NM_001195014:exon5:c.T486C:p.S162S,CD4:NM_001195015:exon5:c.T204C:p.S68S,CD4:NM_001195016:exon5:c.T204C:p.S68S,CD4:NM_001195017:exon5:c.T204C:p.S68S,CD4:NM_000616:exon7:c.T1023C:p.S341S exonic ENSG00000010610 NA synonymous SNV ENSG00000010610:ENST00000011653:exon7:c.T1023C:p.S341S NA NA 12p13.31 NA NA NA NA rs1055141 0.72 0.72 0.723 0.746805 0.5696 0.9137 0.6686 0.792 0.7515 0.57 0.93 0.66 0.77 0.6439 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 0.417186 NA NA 0.542907 0.743305 NA 0.71 NA 3.9102596 1269 1 3755675 3755675 T C exonic CEP104 NA synonymous SNV CEP104:NM_014704:exon8:c.A744G:p.E248E exonic ENSG00000116198 NA synonymous SNV ENSG00000116198:ENST00000428079:exon7:c.A570G:p.E190E,ENSG00000116198:ENST00000378230:exon8:c.A744G:p.E248E Score=346;Name=lod=34 NA 1p36.32 NA NA NA NA rs1891941 0.8 0.8 0.812 0.789537 0.9443 0.4792 0.8689 0.9198 0.7178 0.94 0.49 0.85 0.91 0.8584 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 -0.745208 NA NA 0.953837 0.911711 NA 0.877 NA 3.9101296 1269 X 35820265 35820265 C T UTR5 MAGEB16 NM_001099921:c.-49C>T NA NA exonic ENSG00000189023 NA synonymous SNV ENSG00000189023:ENST00000399992:exon3:c.C48T:p.C16C NA NA Xp21.1 NA NA NA NA rs5928990 0.53 0.53 0.53895 NA NA NA NA NA NA 0.54 0.74 0.54 0.28 0.5694 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.554138 NA NA 0.520596 0.300603 NA 0.355 NA 3.910004 1269 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 1269 5 150946966 150946966 G A exonic FAT2 NA synonymous SNV FAT2:NM_001447:exon1:c.C1527T:p.P509P exonic ENSG00000086570 NA synonymous SNV ENSG00000086570:ENST00000261800:exon1:c.C1527T:p.P509P Score=542;Name=lod=212 NA 5q33.1 NA NA NA NA rs1465690 0.86 0.86 0.869 0.86881 0.9384 0.7837 0.7738 0.8979 0.9131 0.93 0.78 0.8 0.9 0.8864 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 -1.650044 NA NA 0.932209 0.899001 NA 0.87 NA 3.9096576 1269 4 17841620 17841620 A G intronic NCAPG NA NA NA intronic ENSG00000109805 NA NA NA NA NA 4p15.31 NA NA NA NA rs2286536 0.11 0.11 0.095 0.145966 0.0905 0.1617 0.1225 0.1029 0.2618 0.09 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 1.82788 1.82788 NA NA NA NA 0.138 NA 3.9095 1269 8 144406579 144406579 G A intronic TOP1MT NA NA NA intronic ENSG00000184428 NA NA NA NA NA 8q24.3 NA NA NA NA rs3812435 0.12 0.12 0.108 0.11861 0.0905 0.0883 0.0807 0.2307 0.0542 0.08 0.1 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 -0.790447 NA NA NA NA NA 0.13 NA 3.9095 1269 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 1269 2 100209627 100209627 C T intronic AFF3 NA NA NA intronic ENSG00000144218 NA NA NA NA NA 2q11.2 NA NA NA NA rs62154469 0.05 0.05 NA 0.034345 0.0467 0.0397 0.0274 0.0393 0.0143 0.04 0.05 0.02 0.05 0.0439 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 -0.995731 NA NA NA NA NA 0.014 NA 3.9094 1269 8 19690669 19690669 A G intronic INTS10 NA NA NA intronic ENSG00000104613 NA NA NA NA NA 8p21.3 NA NA NA NA rs76546478 0.01 0.01 0.004 0.00958466 0.0308 NA 0.0144 0.0038 0.002 0.03 NA 0.01 0.0041 0.0256 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 -0.518781 NA NA 0.034252 0.005636 NA NA NA 3.909348 1269 12 6928075 6928075 T C exonic CD4 NA synonymous SNV CD4:NM_001195014:exon7:c.T804C:p.C268C,CD4:NM_001195015:exon7:c.T522C:p.C174C,CD4:NM_001195016:exon7:c.T522C:p.C174C,CD4:NM_001195017:exon7:c.T522C:p.C174C,CD4:NM_000616:exon9:c.T1341C:p.C447C exonic ENSG00000010610 NA synonymous SNV ENSG00000010610:ENST00000011653:exon9:c.T1341C:p.C447C NA NA 12p13.31 NA NA NA NA rs12821756 0.73 0.73 0.71 0.75619 0.5686 0.9117 0.6758 0.8245 0.7536 0.57 0.92 0.66 0.81 0.6465 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 -0.862676 NA NA 0.542229 0.7725 NA 0.71 NA 3.9093376 1269 11 124120821 124120821 T C exonic OR8G1 NA unknown UNKNOWN ncRNA_exonic ENSG00000197849 NA NA NA NA NA 11q24.2 NA NA NA NA rs12099154 0.28 0.28 0.257 0.287939 0.3201 0.2639 0.2839 0.1959 0.407 0.33 0.24 0.31 0.21 0.3088 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.979761 NA NA 0.295154 0.198466 NA 0.362 NA 3.9092793 1269 19 7606970 7606970 C A intronic PNPLA6 NA NA NA intronic ENSG00000032444 NA NA NA NA NA 19p13.2 NA NA NA NA rs117630756 0.01 0.01 0.011 0.0103834 0.0358 NA 0.0101 0.0015 0.0072 0.04 NA 0.01 NA 0.0238 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 0.596671 NA NA 0.031395 0.006355 NA 0.014 NA 3.909005 1269 6 30122154 30122154 T C exonic TRIM10 NA synonymous SNV TRIM10:NM_006778:exon7:c.A1038G:p.Q346Q,TRIM10:NM_052828:exon7:c.A1038G:p.Q346Q exonic ENSG00000204613 NA synonymous SNV ENSG00000204613:ENST00000376704:exon7:c.A1038G:p.Q346Q,ENSG00000204613:ENST00000449742:exon7:c.A1038G:p.Q346Q Score=449;Name=lod=89 NA 6p22.1 NA NA NA NA rs3094134 0.95 0.95 0.95 0.970647 0.9105 0.997 0.951 0.9977 0.9826 0.9 0.99 0.94 0.99 0.9425 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 -0.454022 NA NA 0.904876 0.978448 NA 0.957 NA 3.9087906 1269 1 2520527 2520527 T C intronic FAM213B NA NA NA intronic ENSG00000157870 NA NA NA NA NA 1p36.32 NA Name=ZNF263 NA NA rs6670198 0.49 0.49 0.48 0.559305 0.333 0.5427 0.4885 0.8003 0.5337 0.33 0.48 0.45 0.78 0.4243 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 0.27608 NA NA 0.333993 0.743409 NA 0.543 NA 3.908707 1269 13 77834735 77834735 A G intronic MYCBP2 NA NA NA intronic ENSG00000005810 NA NA NA NA NA 13q22.3 NA NA NA NA rs73223428 0.03 0.03 0.019 0.0215655 0.0398 0.0377 0.0101 0.0129 0.0061 0.04 0.04 0.02 0.01 0.0305 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 -0.103767 NA NA 0.021187 0.01317 NA 0.094 NA 3.908513 1269 7 48089542 48089542 T C exonic C7orf57 NA synonymous SNV C7orf57:NM_001267865:exon5:c.T207C:p.N69N,C7orf57:NM_001267866:exon5:c.T207C:p.N69N,C7orf57:NM_001100159:exon6:c.T573C:p.N191N exonic ENSG00000164746 NA synonymous SNV ENSG00000164746:ENST00000435376:exon5:c.T207C:p.N69N,ENSG00000164746:ENST00000348904:exon6:c.T573C:p.N191N,ENSG00000164746:ENST00000420324:exon6:c.T708C:p.N236N,ENSG00000164746:ENST00000430738:exon6:c.T708C:p.N236N,ENSG00000164746:ENST00000539619:exon6:c.T573C:p.N191N NA NA 7p12.3 NA NA Name=7 NA rs2686788 0.85 0.85 0.838 0.82508 0.9543 0.746 0.8602 0.789 0.7975 0.95 0.75 0.86 0.78 0.8729 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 -0.987505 NA NA 0.931092 0.782445 NA 0.855 NA 3.9083746 1269 7 2587122 2587122 T C intronic BRAT1 NA NA NA intronic ENSG00000106009 NA NA NA NA NA 7p22.3 NA Name=NRSF NA NA rs2164688 0.45 0.45 0.441 0.463658 0.3559 0.3661 0.4164 0.7368 0.3395 0.35 0.39 0.39 0.71 0.3911 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.497584 NA NA 0.344651 0.657966 NA 0.37 NA 3.908349 1269 12 94976084 94976084 T C exonic TMCC3 NA synonymous SNV TMCC3:NM_020698:exon2:c.A309G:p.A103A exonic ENSG00000057704 NA synonymous SNV ENSG00000057704:ENST00000261226:exon2:c.A309G:p.A103A,ENSG00000057704:ENST00000548918:exon2:c.A216G:p.A72A,ENSG00000057704:ENST00000551457:exon2:c.A216G:p.A72A NA NA 12q22 NA NA NA NA rs3747552 0.67 0.67 0.68 0.699281 0.5775 0.6002 0.6095 0.9266 0.683 0.57 0.61 0.63 0.92 0.6166 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 0.704961 NA NA 0.564535 0.861325 NA 0.638 NA 3.9080316 1269 13 77745583 77745583 A C intronic MYCBP2 NA NA NA intronic ENSG00000005810 NA NA NA NA NA 13q22.3 NA NA NA NA rs73241423 0.03 0.03 0.026 0.0211661 0.0398 0.0357 0.0101 0.0129 0.0061 0.04 0.04 0.02 0.01 0.0298 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 0.82668 NA NA 0.022442 0.013618 NA 0.094 NA 3.907958 1269 12 10165469 10165469 A G exonic CLEC12B NA synonymous SNV CLEC12B:NM_001129998:exon2:c.A177G:p.T59T,CLEC12B:NM_205852:exon2:c.A177G:p.T59T exonic ENSG00000256660 NA synonymous SNV ENSG00000256660:ENST00000338896:exon2:c.A177G:p.T59T,ENSG00000256660:ENST00000396502:exon2:c.A177G:p.T59T,ENSG00000256660:ENST00000539155:exon2:c.A177G:p.T59T,ENSG00000256660:ENST00000544853:exon2:c.A177G:p.T59T Score=399;Name=lod=56 NA 12p13.2 NA NA NA NA rs476474 0.94 0.94 0.937 0.939497 0.9225 0.9792 0.9582 0.9191 0.9305 0.91 0.98 0.95 0.92 0.9208 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 -0.945323 NA NA 0.915465 0.894235 NA 0.848 NA 3.9079016 1269 17 7720835 7720835 G A intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs76261975 0.02 0.02 0.018 0.0113818 0.0408 NA 0.013 0.0008 0.0061 0.04 NA 0.02 NA 0.0213 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 1.208378 NA NA 0.030233 0.004539 NA 0.007 NA 3.907667 1269 1 24201919 24201919 T C exonic CNR2 NA synonymous SNV CNR2:NM_001841:exon2:c.A189G:p.Q63Q exonic ENSG00000188822 NA synonymous SNV ENSG00000188822:ENST00000374472:exon2:c.A189G:p.Q63Q,ENSG00000188822:ENST00000536471:exon3:c.A189G:p.Q63Q NA NA 1p36.11 NA NA NA NA rs2502992 0.51 0.51 0.603 0.653954 0.5875 0.503 0.6383 0.7958 0.6973 0.46 0.47 0.56 0.6 0.6183 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 -1.173344 NA NA 0.553256 0.72946 ID=COSM146447;OCCURENCE=1(stomach) NA NA 3.9076106 1269 20 24952037 24952037 C T intronic APMAP NA NA NA intronic ENSG00000101474 NA NA NA NA NA 20p11.21 NA NA NA NA rs6050225 0.07 0.07 0.058 0.0706869 0.0924 0.003 0.0677 0.0915 0.092 0.1 0.0017 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 -0.407833 NA NA NA NA NA 0.072 NA 3.9076 1269 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 1269 1 212970439 212970439 G C intronic TATDN3 NA NA NA intronic ENSG00000203705 NA NA NA NA NA 1q32.3 NA NA NA NA rs75063374 0.02 0.02 0.021 0.0151757 0.0358 0.0119 0.0202 0.0008 0.0133 0.03 0.02 0.02 0.0041 0.0238 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 -0.311745 NA NA 0.032907 0.006355 NA 0.014 NA 3.907493 1269 9 138518101 138518101 G C intronic GLT6D1 NA NA NA intronic ENSG00000204007 NA NA NA NA NA 9q34.3 NA NA NA NA rs7033170 0.04 0.04 0.03 0.048722 0.0328 NA 0.0346 0.1316 0.0133 0.03 NA 0.03 0.1 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 -0.787381 NA NA 0.027004 0.112435 NA 0.029 NA 3.907396 1269 3 119886548 119886548 G C exonic GPR156 NA synonymous SNV GPR156:NM_001168271:exon9:c.C1764G:p.L588L,GPR156:NM_153002:exon9:c.C1776G:p.L592L exonic ENSG00000175697 NA synonymous SNV ENSG00000175697:ENST00000315843:exon9:c.C1776G:p.L592L,ENSG00000175697:ENST00000461057:exon9:c.C1764G:p.L588L,ENSG00000175697:ENST00000464295:exon10:c.C1776G:p.L592L Score=389;Name=lod=51 NA 3q13.33 NA NA NA NA rs9858566 0.92 0.92 0.917 0.902356 0.9284 0.9306 0.9265 0.8812 0.8579 0.92 0.94 0.91 0.88 0.9138 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 0.767391 NA NA 0.917093 0.877157 NA 0.92 NA 3.9073736 1269 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 1269 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 1269 11 58602318 58602318 G T intronic GLYATL2 NA NA NA intronic ENSG00000156689 NA NA NA NA NA 11q12.1 NA NA NA NA rs75096485 0.06 0.06 0.052 0.0750799 0.0239 0.1925 0.0432 0.0076 0.1207 0.03 0.17 0.02 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 -1.245843 NA NA 0.0172 0.010904 ID=COSM147252;OCCURENCE=1(stomach) 0.022 NA 3.9069 1269 13 77633642 77633642 G A intronic MYCBP2 NA NA NA intronic ENSG00000005810 NA NA NA NA NA 13q22.3 NA NA NA NA rs41287040 0.03 0.03 0.02 0.0215655 0.0408 0.0357 0.0115 0.0129 0.0061 0.04 0.04 0.02 0.01 0.0297 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 -1.238577 NA NA 0.022674 0.013845 NA 0.094 NA 3.906826 1269 2 202575821 202575821 G A exonic ALS2 NA synonymous SNV ALS2:NM_020919:exon26:c.C4015T:p.L1339L exonic ENSG00000003393 NA synonymous SNV ENSG00000003393:ENST00000264276:exon26:c.C4015T:p.L1339L NA NA 2q33.1 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs3219168 0.91 0.91 0.909 0.905351 0.9165 0.9742 0.8919 0.8056 0.9673 0.92 0.99 0.89 0.83 0.9232 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 0.371533 NA NA 0.920524 0.822607 NA 0.906 NA 3.9064426 1269 17 7681412 7681412 C G exonic DNAH2 NA synonymous SNV DNAH2:NM_020877:exon33:c.C5265G:p.V1755V exonic ENSG00000183914 NA synonymous SNV ENSG00000183914:ENST00000389173:exon33:c.C5265G:p.V1755V,ENSG00000183914:ENST00000572933:exon34:c.C5265G:p.V1755V Score=515;Name=lod=165 NA 17p13.1 NA NA NA NA rs7359662 0.79 0.79 0.739 0.761382 0.9503 0.7976 0.8862 0.4327 0.8855 0.95 0.8 0.89 0.45 0.8742 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 -0.593308 NA NA 0.935814 0.511802 NA 0.739 NA 3.9063526 1269 17 76491211 76491211 G A ncRNA_intronic LOC100996295 NA NA NA ncRNA_intronic ENSG00000267432 NA NA NA NA NA 17q25.3 NA NA NA NA rs11077376 0.21 0.21 0.196 0.240415 0.2217 0.251 0.3156 0.1369 0.3354 0.21 0.27 0.28 0.09 0.2947 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632506 NA NA 0.244511 0.148085 NA 0.246 NA 3.9057556 1269 1 2520500 2520500 G A intronic FAM213B NA NA NA intronic ENSG00000157870 NA NA NA NA NA 1p36.32 NA Name=ZNF263 NA NA rs6701238 0.49 0.49 0.503 0.558906 0.333 0.5427 0.4885 0.7995 0.5327 0.33 0.48 0.45 0.78 0.4226 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 0.589565 NA NA 0.338725 0.744777 NA 0.543 NA 3.905675 1269 17 7721196 7721196 T C intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs12953179 0.03 0.03 NA 0.0261581 0.0517 NA 0.0403 0.0113 0.0368 0.06 NA 0.04 0.02 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 -1.341059 NA NA NA NA NA 0.051 NA 3.9056 1269 11 28083890 28083890 G T intronic KIF18A NA NA NA intronic ENSG00000121621 NA NA NA NA NA 11p14.1 NA NA NA NA rs11030202 0.16 0.16 0.163 0.163339 0.0487 0.3978 0.036 0.1649 0.1278 0.05 0.37 0.03 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 0.23342 NA NA 0.04598 0.150286 NA 0.145 NA 3.90532 1269 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 1269 19 48800791 48800791 A G intronic CCDC114 NA NA NA intronic ENSG00000105479 NA NA NA NA NA 19q13.33 NA Name=CTCF_(SC-5916) NA NA rs2292113 0.33 0.33 0.36 0.321486 0.3738 0.127 0.2305 0.5015 0.2894 0.37 0.15 0.25 0.55 0.3595 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038566 NA 0 0.361623 0.479015 NA 0.399 NA 3.905077 1270 1 76198785 76198785 G A intronic ACADM NA NA NA exonic ENSG00000117054 NA synonymous SNV ENSG00000117054:ENST00000370834:exon5:c.G336A:p.A112A NA NA 1p31.1 NA NA NA NA rs3818855 0.24 0.24 0.228 0.23103 0.3231 0.0228 0.3256 0.2874 0.2076 0.3 0.02 0.34 0.33 0.273 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.08141 NA NA 0.332245 0.289954 NA 0.232 NA 3.9049883 1270 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 1270 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 1270 8 17570698 17570698 C T intronic MTUS1 NA NA NA intronic ENSG00000129422 NA NA NA NA NA 8p22 NA NA NA NA rs117652362 0.02 0.02 0.015 0.0139776 0.0328 NA 0.0101 0.0008 0.0297 0.04 NA 0.02 NA 0.0258 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 0.227251 NA NA 0.03672 0.005753 NA 0.007 NA 3.90468 1270 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 1270 1 94471075 94471075 A G exonic ABCA4 NA synonymous SNV ABCA4:NM_000350:exon44:c.T6069C:p.I2023I exonic ENSG00000198691 NA synonymous SNV ENSG00000198691:ENST00000535881:exon7:c.T426C:p.I142I,ENSG00000198691:ENST00000536513:exon9:c.T879C:p.I293I,ENSG00000198691:ENST00000370225:exon44:c.T6069C:p.I2023I NA NA 1p22.1 Score=890;Name=V$CDPCR1_01 NA NA NA rs1762114 0.8 0.8 0.759 0.769968 0.9394 0.8968 0.9006 0.3744 0.907 0.94 0.9 0.9 0.39 0.8894 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 0.505528 NA NA 0.933256 0.468225 NA 0.768 NA 3.9046106 1270 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 1270 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 1270 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 1270 10 26310597 26310597 G A intronic MYO3A NA NA NA UTR3 ENSG00000095777 ENST00000376302:c.*7G>A NA NA NA NA 10p12.1 NA NA NA NA rs56210104 0.05 0.05 0.045 0.0351438 0.0954 0.001 0.0504 0.0151 0.0245 0.09 NA 0.05 0.02 0.0678 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 1.125186 NA NA 0.099535 0.029959 NA 0.08 NA 3.9039317 1270 8 120581643 120581643 G A intronic ENPP2 NA NA NA intronic ENSG00000136960 NA NA NA NA NA 8q24.12 NA NA Name=58 NA rs12544233 0.39 0.39 0.361 0.393171 0.3698 0.4296 0.4553 0.2852 0.4816 0.38 0.45 0.41 0.31 0.3869 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.270079 NA NA 0.339535 0.294144 ID=COSN168403;OCCURENCE=1(large_intestine) 0.333 NA 3.903765 1270 5 167687440 167687440 G T intronic TENM2 NA NA NA intronic ENSG00000145934 NA NA NA NA NA 5q34 NA NA NA NA rs114607564 0.02 0.02 0.023 0.0223642 0.0358 0.0198 0.0086 0.0061 0.0429 0.03 0.02 NA 0.01 0.0293 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 -0.626169 NA NA 0.031265 0.009014 NA 0.029 NA 3.903635 1270 11 17429872 17429872 G A intronic ABCC8 NA NA NA intronic ENSG00000006071 NA NA NA NA NA 11p15.1 NA NA NA NA rs4148634 0.1 0.1 0.108 0.114217 0.0964 0.0198 0.0591 0.2685 0.0603 0.09 0.02 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 3.067536 3.067536 NA NA NA NA 0.123 NA 3.9036 1270 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 1270 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 1270 17 79658412 79658412 T G intronic HGS NA NA NA intronic ENSG00000185359 NA NA NA NA NA 17q25.3 NA NA NA NA rs34784238 0.12 0.12 0.125 0.114018 0.0974 0.2262 0.0605 0.0764 0.1043 0.1 0.22 0.05 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 0.507167 NA NA NA NA NA 0.159 NA 3.9026 1270 7 5267724 5267724 A G intronic WIPI2 NA NA NA intronic ENSG00000157954 NA NA NA NA NA 7p22.1 NA NA NA NA rs11763996 0.02 0.02 0.015 0.0175719 0.0308 NA 0.0303 0.0174 0.0133 0.02 NA 0.03 0.02 0.0265 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 -0.500831 NA NA 0.040465 0.01793 NA 0.072 NA 3.902235 1270 14 21829129 21829129 C G exonic SUPT16H NA synonymous SNV SUPT16H:NM_007192:exon17:c.G1932C:p.G644G exonic ENSG00000092201 NA synonymous SNV ENSG00000092201:ENST00000216297:exon17:c.G1932C:p.G644G Score=620;Name=lod=441 NA 14q11.2 NA NA NA NA rs3762158 0.88 0.88 0.887 0.874201 0.9304 0.8938 0.8213 0.8079 0.9233 0.92 0.9 0.84 0.81 0.8979 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 0.893492 NA NA 0.936163 0.820245 NA 0.826 NA 3.9022036 1270 20 36500313 36500313 C A intronic CTNNBL1 NA NA NA intronic ENSG00000132792 NA NA NA Score=444;Name=lod=85 NA 20q11.23 NA NA NA NA rs717599 0.31 0.31 0.286 0.314097 0.3549 0.3899 0.2882 0.1498 0.4346 0.35 0.38 0.3 0.17 0.3519 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.778873 NA NA 0.391163 0.178393 ID=COSN166522;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.167 NA 3.902037 1270 15 71125204 71125204 A G exonic LARP6 NA synonymous SNV LARP6:NM_018357:exon3:c.T663C:p.F221F exonic ENSG00000166173 NA synonymous SNV ENSG00000166173:ENST00000299213:exon3:c.T663C:p.F221F NA NA 15q23 NA NA NA NA rs1549317 0.54 0.54 0.5 0.533347 0.5885 0.502 0.7695 0.4191 0.4959 0.59 0.48 0.73 0.39 0.577 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 -0.788688 NA NA 0.599139 0.447704 NA 0.5 NA 3.9020276 1270 19 52528944 52528944 C T intronic ZNF614 NA NA NA intronic ENSG00000142556 NA NA NA NA NA 19q13.41 NA NA NA NA rs7343140 0.05 0.05 0.039 0.0483227 0.0408 0.005 0.0317 0.1225 0.0123 0.04 0.0017 0.05 0.13 0.032 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428826 NA NA 0.025233 0.090785 NA 0.014 NA 3.901967 1270 17 73569386 73569386 C T intronic LLGL2 NA NA NA intronic ENSG00000073350 NA NA NA NA NA 17q25.1 NA NA NA NA rs75998331 0.04 0.04 0.036 0.0405351 0.0467 NA 0.0216 0.1006 0.0082 0.04 NA 0.02 0.09 0.0262 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 -0.728954 NA NA 0.025193 0.074897 NA 0.022 NA 3.901907 1270 7 127714523 127714523 C G intronic SND1 NA NA NA intronic ENSG00000197157 NA NA NA NA NA 7q32.1 NA NA NA NA rs55998540 0.02 0.02 0.01 0.0135783 0.0358 NA 0.0144 0.0015 0.0204 0.04 NA 0.01 0.01 0.0262 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 1.390997 1.390997 NA 0.036163 0.006128 NA NA NA 3.901837 1270 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 1270 2 218672848 218672848 G A intronic TNS1 NA NA NA intronic ENSG00000079308 NA NA NA NA NA 2q35 NA NA NA NA rs72945946 0.02 0.02 0.012 0.0145767 0.0338 NA 0.0231 0.003 0.0194 0.03 NA 0.04 0.01 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 -0.230889 NA NA 0.037326 0.005674 NA 0.058 NA 3.901274 1270 7 87525777 87525777 A G intronic DBF4 NA NA NA intronic ENSG00000006634 NA NA NA NA NA 7q21.12 NA NA NA NA rs80175733 0.06 0.06 0.06 0.0650958 0.0209 0.0863 0.0749 0.1029 0.0307 0.02 0.08 0.06 0.1 0.0505 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 -1.388004 NA NA 0.027558 0.074932 NA 0.058 NA 3.901042 1270 17 76113872 76113872 G A intronic TMC6 NA NA NA intronic ENSG00000141524 NA NA NA NA NA 17q25.3 NA NA NA NA rs143140501 0.02 0.02 0.019 0.014976 0.0358 NA 0.0274 0.0121 0.0041 0.03 NA 0.04 0.02 0.0315 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 1.604171 1.604171 NA 0.031665 0.013446 NA 0.065 NA 3.901035 1270 12 121175610 121175610 G A intronic ACADS NA NA NA intronic ENSG00000122971 NA NA NA NA NA 12q24.31 NA NA NA NA rs117000908 0.02 0.02 0.013 0.0269569 0.0398 0.001 0.0245 0.0038 0.0736 0.04 NA 0.04 0.01 0.0292 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 -0.500528 NA NA 0.03 0.007036 NA 0.08 NA 3.901 1270 19 46811435 46811435 G A intronic HIF3A NA NA NA intronic ENSG00000124440 NA NA NA NA NA 19q13.32 NA NA NA NA rs117916105 0.01 0.01 0.007 0.00998403 0.0308 NA 0.0101 0.0015 0.0102 0.03 NA 0.01 0.002 0.0263 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 -0.64176 NA NA 0.042326 0.006128 NA NA NA 3.900574 1270 1 21551718 21551718 C T intronic ECE1 NA NA NA intronic ENSG00000117298 NA NA NA NA NA 1p36.12 NA NA NA NA rs71636966 0.03 0.03 0.016 0.0147764 0.0408 NA 0.0173 0.0076 0.0112 0.05 NA 0.03 0.02 0.0276 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 0.359793 NA NA 0.031163 0.014072 NA 0.007 NA 3.900437 1270 X 53584418 53584418 G A intronic HUWE1 NA NA NA intronic ENSG00000086758 NA NA NA NA NA Xp11.22 NA NA NA NA rs17276588 0.12 0.12 0.10731 NA NA NA NA NA NA 0.02 0.32 0.18 0.01 0.0767 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285942 NA NA 0.022889 0.011473 NA 0.029 NA 3.900411 1270 15 91432707 91432707 G T intronic FES NA NA NA intronic ENSG00000182511 NA NA NA NA NA 15q26.1 NA NA NA NA rs111693762 0.02 0.02 0.013 0.0113818 0.0378 NA 0.0101 0.0015 0.0102 0.04 NA 0.01 0.0041 0.0252 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 -1.141304 NA NA 0.03711 0.005005 NA 0.014 NA 3.89989 1270 22 36116593 36116593 C T intronic APOL5 NA NA NA intronic ENSG00000128313 NA NA NA NA NA 22q12.3 NA NA NA NA rs76678345 0.03 0.03 0.037 0.0393371 0.0328 0.001 0.0231 0.0787 0.044 0.03 NA 0.02 0.09 0.0357 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 -0.657209 NA NA 0.031628 0.057195 NA 0.029 NA 3.899872 1270 1 55165942 55165942 G A ncRNA_intronic HEATR8-TTC4 NA NA NA intronic ENSG00000184313,ENSG00000271723 NA NA NA NA NA 1p32.3 NA NA NA NA rs2304310 0.16 0.16 0.16 0.165935 0.2078 0.0784 0.1412 0.1649 0.2321 0.2 0.08 0.16 0.17 0.2257 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333786 NA NA NA NA NA 0.225 NA 3.8998333 1270 12 56647911 56647911 G C exonic ANKRD52 NA synonymous SNV ANKRD52:NM_173595:exon8:c.C846G:p.S282S exonic ENSG00000139645 NA synonymous SNV ENSG00000139645:ENST00000267116:exon8:c.C846G:p.S282S Score=696;Name=lod=896 NA 12q13.3 NA NA NA NA rs808919 0.82 0.82 0.792 0.804712 0.9284 0.9643 0.8847 0.4168 0.9806 0.92 0.96 0.89 0.45 0.905 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 1.236957 1.236957 NA 0.933571 0.514493 NA 0.79 NA 3.8996956 1270 16 57775537 57775537 C T intronic KATNB1 NA NA NA intronic ENSG00000140854 NA NA NA NA NA 16q21 NA NA NA NA rs61620199 0.1 0.1 0.106 0.115016 0.1004 0.001 0.085 0.2632 0.0685 0.1 NA 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 0.48465 NA NA NA NA NA 0.043 NA 3.8996 1270 21 47809976 47809976 C T intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs55696640 0.14 0.14 0.133 0.116414 0.1004 0.2867 0.0519 0.0303 0.1196 0.1 0.32 0.07 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 -0.057556 NA NA NA NA NA 0.196 NA 3.8996 1270 4 77033721 77033721 G A UTR3 ART3 NM_001130017:c.*49G>A,NM_001179:c.*49G>A,NM_001130016:c.*49G>A NA NA UTR3 ENSG00000156219 ENST00000341029:c.*49G>A,ENST00000349321:c.*49G>A,ENST00000355810:c.*49G>A NA NA NA NA 4q21.1 NA NA NA NA rs62318929 0.17 0.17 0.16 0.154952 0.1312 0.3512 0.1282 0.0567 0.1288 0.13 0.35 0.13 0.06 0.1521 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.312762 NA NA 0.150465 0.069678 ID=COSN167246;OCCURENCE=1(large_intestine) 0.123 NA 3.8995684 1270 19 47763573 47763573 C T intronic CCDC9 NA NA NA intronic ENSG00000105321 NA NA NA Score=374;Name=lod=44 NA 19q13.32 NA NA NA NA rs45591932 0.42 0.42 0.406 0.397165 0.33 0.5903 0.3862 0.3139 0.3875 0.36 0.57 0.37 0.35 0.4608 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.775215 NA NA 0.309707 0.272665 NA 0.283 NA 3.899493 1270 3 119892121 119892121 C G intronic GPR156 NA NA NA intronic ENSG00000175697 NA NA NA NA NA 3q13.33 NA NA Name=7 NA rs13064815 0.24 0.24 0.212 0.230431 0.3966 0.0208 0.3718 0.1762 0.2485 0.4 0.02 0.35 0.18 0.324 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.336538 NA NA 0.38 0.202678 NA 0.21 NA 3.8994 1270 11 65402966 65402966 G A intronic PCNXL3 NA NA NA intronic ENSG00000197136 NA NA NA NA NA 11q13.1 NA NA NA NA rs117032417 0.02 0.02 0.017 0.0155751 0.0338 0.001 0.0101 NA 0.0368 0.04 0.0017 0.01 NA 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 -2.210521 NA NA 0.035278 0.009279 NA 0.014 NA 3.898922 1270 14 24877064 24877064 A G intronic NYNRIN NA NA NA intronic ENSG00000205978 NA NA NA NA NA 14q12 NA NA NA NA rs77367832 0.07 0.07 0.057 0.0634984 0.0278 0.2381 0.0187 0.0015 0.0358 0.03 0.23 0.02 NA 0.0454 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468322 NA NA 0.028169 0.008719 NA 0.036 NA 3.898631 1270 17 73559363 73559363 C T intronic LLGL2 NA NA NA intronic ENSG00000073350 NA NA NA NA NA 17q25.1 NA NA NA NA rs77340657 0.04 0.04 0.048 0.038139 0.0477 NA 0.0173 0.093 0.0082 0.04 NA 0.02 0.11 0.0267 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 -0.46566 NA NA 0.027674 0.096232 NA 0.014 NA 3.897926 1270 8 71041229 71041229 C A intronic NCOA2 NA NA NA intronic ENSG00000140396 NA NA NA NA NA 8q13.3 NA NA NA NA rs111631661 0.02 0.02 0.017 0.0127796 0.0338 NA 0.0216 NA 0.0153 0.03 NA 0.02 NA 0.0361 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 3.102317 3.102317 NA 0.032773 0.003991 NA 0.022 NA 3.897327 1270 10 7747155 7747155 G C intronic ITIH2 NA NA NA intronic ENSG00000151655 NA NA NA NA NA 10p14 NA NA NA NA rs76983422 0.03 0.03 0.023 0.0279553 0.0348 0.0397 0.0259 0.0068 0.0389 0.04 0.04 0.03 0.01 0.0335 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 -1.044794 NA NA 0.034419 0.014072 NA 0.022 NA 3.897281 1270 1 22183476 22183476 A G intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs200354565 NA NA NA 0.0461262 0.0487 NA 0.0317 0.0386 0.1115 NA NA NA NA 0.0543 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.079545 NA NA NA NA NA NA NA 3.897 1270 16 66886559 66886559 G A intronic CA7 NA NA NA ncRNA_intronic ENSG00000258122 NA NA NA NA NA 16q22.1 NA NA NA NA rs152168 0.42 0.42 0.385 0.399561 0.4364 0.6101 0.4467 0.1074 0.5061 0.43 0.62 0.46 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 1.003746 NA NA NA NA NA 0.362 NA 3.8969333 1270 13 43462352 43462352 T C UTR3 EPSTI1 NM_001002264:c.*34A>G,NM_033255:c.*278A>G NA NA UTR3 ENSG00000133106 ENST00000313624:c.*278A>G,ENST00000313640:c.*34A>G NA NA NA NA 13q14.11 NA NA NA NA rs45505295 0.17 0.17 0.145 0.163538 0.1252 0.2986 0.2666 0.0197 0.1851 0.12 0.3 0.27 0.03 0.1606 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.647567 NA NA 0.150965 0.036314 NA 0.116 NA 3.8965684 1270 5 96133034 96133034 T C intronic ERAP1 NA NA NA intronic ENSG00000164307 NA NA NA NA NA 5q15 NA NA NA NA rs3822680 NA NA NA 0.0720847 0.0408 0.1726 0.085 0.0287 0.0501 NA NA NA NA 0.0627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.966293 NA NA NA NA NA NA NA 3.8965 1270 19 12921120 12921120 T C intronic RNASEH2A NA NA NA intronic ENSG00000104889 NA NA NA NA NA 19p13.2 NA NA NA NA rs7247253 0.06 0.06 0.049 0.0626997 0.0249 0.0119 0.0778 0.1573 0.0153 0.03 0.02 0.06 0.16 0.0466 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.574114 NA NA 0.032558 0.139809 NA 0.043 NA 3.895942 1270 4 166910665 166910665 A G intronic TLL1 NA NA NA intronic ENSG00000038295 NA NA NA NA NA 4q32.3 NA NA NA NA rs80130536 0.02 0.02 0.019 0.0181709 0.0447 0.002 0.0144 0.0015 0.0327 0.05 0.0035 0.01 0.002 0.0262 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 0.708829 NA NA 0.033256 0.003858 NA 0.022 NA 3.895844 1270 21 47856106 47856106 C A intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA Name=CTCF NA NA rs2236616 0.35 0.35 0.339 0.3127 0.3966 0.4167 0.2305 0.2057 0.3221 0.4 0.45 0.28 0.2 0.3595 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.513904 NA NA 0.348151 0.200048 NA 0.391 NA 3.895749 1270 2 85894308 85894308 G T intronic SFTPB NA NA NA intronic ENSG00000168878 NA NA NA Score=435;Name=lod=78 NA 2p11.2 NA NA NA NA rs3024798 0.3 0.3 0.268 0.296925 0.3738 0.37 0.4078 0.0522 0.3947 0.39 0.35 0.41 0.04 0.3553 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.1807 NA NA 0.375233 0.102587 NA 0.304 NA 3.895667 1270 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 1270 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 1270 6 33694691 33694691 G A intronic IP6K3 NA NA NA intronic ENSG00000161896 NA NA NA NA NA 6p21.31 NA NA NA NA rs78847102 0.07 0.07 0.074 0.0790735 0.0268 NA 0.0375 0.2579 0.002 0.02 NA 0.03 0.24 0.0434 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.099025 NA NA 0.034535 0.225374 NA 0.065 NA 3.895265 1270 22 22569640 22569640 T G intergenic TOP3B,VPREB1 dist=232493;dist=29560 NA NA exonic ENSG00000211642 NA nonsynonymous SNV ENSG00000211642:ENST00000390287:exon2:c.T332G:p.L111W NA NA 22q11.22 NA Name=PU.1 NA NA rs6001415 0.69 0.69 0.691 0.709465 0.6441 0.6835 0.5692 0.8018 0.7781 0.64 0.68 0.61 0.83 0.6618 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 -1.902096 NA 1 0.632206 0.774098 NA 0.696 NA 3.8952274 1271 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=USF-1,USF2 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 1271 19 11113651 11113651 T C intronic SMARCA4 NA NA NA intronic ENSG00000127616 NA NA NA NA NA 19p13.2 NA NA NA NA rs17001078 0.08 0.08 0.087 0.0826677 0.1054 0.0437 0.0476 0.1006 0.1002 0.11 0.03 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 0.078348 NA NA NA NA NA 0.058 NA 3.8946 1271 14 67940668 67940668 G A intronic TMEM229B NA NA NA intronic ENSG00000198133 NA NA NA NA NA 14q24.1 NA NA NA NA rs72719181 0.02 0.02 0.022 0.023762 0.0348 NA 0.0216 0.0393 0.0174 0.03 NA 0.02 0.04 0.0393 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 0.868962 NA NA 0.031355 0.041083 NA 0.029 NA 3.894545 1271 1 117618067 117618067 C T exonic TTF2 NA synonymous SNV TTF2:NM_003594:exon5:c.C861T:p.N287N exonic ENSG00000116830 NA synonymous SNV ENSG00000116830:ENST00000369466:exon5:c.C861T:p.N287N NA NA 1p13.1 NA NA NA NA rs1289673 0.54 0.54 0.484 0.513778 0.5934 0.7679 0.6686 0.112 0.6033 0.58 0.76 0.67 0.11 0.5747 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 -0.003406 NA NA 0.60407 0.20404 NA 0.5 NA 3.8944966 1271 3 139173565 139173565 A G intronic RBP2 NA NA NA ncRNA_intronic ENSG00000248932 NA NA NA NA NA 3q23 NA NA NA NA rs2233817 0.22 0.22 0.259 0.26238 0.1322 0.0565 0.1412 0.649 0.1718 0.12 0.05 0.17 0.62 0.1661 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.617497 1.617497 NA 0.140698 0.571039 NA 0.283 NA 3.8943353 1271 6 106992464 106992464 A G exonic AIM1 NA synonymous SNV AIM1:NM_001624:exon10:c.A3834G:p.K1278K exonic ENSG00000112297 NA synonymous SNV ENSG00000112297:ENST00000457437:exon4:c.A291G:p.K97K,ENSG00000112297:ENST00000535438:exon4:c.A291G:p.K97K,ENSG00000112297:ENST00000369066:exon10:c.A3834G:p.K1278K Score=488;Name=lod=128 NA 6q21 NA NA NA NA rs1799693 0.96 0.96 0.951 0.96885 0.9016 1 0.9467 0.997 0.9836 0.9 1 0.95 1 0.9469 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065413 NA NA 0.923953 0.985928 NA 0.986 NA 3.8942136 1271 11 66272142 66272142 A G exonic DPP3 NA synonymous SNV DPP3:NM_001256670:exon16:c.A1848G:p.T616T,DPP3:NM_005700:exon17:c.A1938G:p.T646T,DPP3:NM_130443:exon17:c.A1938G:p.T646T exonic ENSG00000254986 NA synonymous SNV ENSG00000254986:ENST00000530165:exon16:c.A1848G:p.T616T,ENSG00000254986:ENST00000360510:exon17:c.A1938G:p.T646T,ENSG00000254986:ENST00000453114:exon17:c.A1938G:p.T646T,ENSG00000254986:ENST00000531863:exon17:c.A1998G:p.T666T,ENSG00000254986:ENST00000532677:exon17:c.A1995G:p.T665T,ENSG00000254986:ENST00000541961:exon17:c.A1938G:p.T646T NA NA 11q13.2 NA NA NA NA rs1671063 0.65 0.65 0.675 0.615016 0.6113 0.5486 0.4496 0.916 0.3978 0.61 0.57 0.5 0.92 0.5705 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 -1.012503 NA NA 0.590803 0.848864 NA 0.601 NA 3.8940636 1271 19 11095896 11095896 T C intronic SMARCA4 NA NA NA intronic ENSG00000127616 NA NA NA NA NA 19p13.2 NA NA NA NA rs78732262 0.08 0.08 0.101 0.0798722 0.1064 0.0437 0.0476 0.0893 0.1002 0.11 0.03 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 -0.641237 NA NA NA NA NA 0.058 NA 3.8936 1271 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 1271 17 18874720 18874720 C G exonic FAM83G NA synonymous SNV FAM83G:NM_001039999:exon6:c.G2424C:p.S808S exonic ENSG00000188522 NA synonymous SNV ENSG00000188522:ENST00000585154:exon5:c.G2424C:p.S808S,ENSG00000188522:ENST00000345041:exon6:c.G2424C:p.S808S,ENSG00000188522:ENST00000388995:exon6:c.G2424C:p.S808S NA NA 17p11.2 NA NA NA NA rs916823 0.66 0.66 0.644 0.674321 0.5855 0.6329 0.6844 0.7587 0.6871 0.56 0.65 0.69 0.79 0.6139 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 -1.24249 NA NA 0.573964 0.73095 NA 0.63 NA 3.8933026 1271 9 131772154 131772154 C T intronic SH3GLB2 NA NA NA intronic ENSG00000148341 NA NA NA NA NA 9q34.11 NA NA NA NA rs80099352 0.07 0.07 0.054 0.0589058 0.0368 0.1558 0.0533 0.0023 0.0624 0.04 0.16 0.06 0.01 0.0454 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.63423 1.63423 NA 0.024657 0.00522 NA 0.08 NA 3.893143 1271 9 80851527 80851527 G A intronic CEP78 NA NA NA intronic ENSG00000148019 NA NA NA NA NA 9q21.2 NA Name=HA-E2F1 NA NA rs13292584 0.27 0.27 0.249 0.283946 0.3559 0.2748 0.3199 0.1558 0.3671 0.33 0.28 0.31 0.14 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 1.424984 1.424984 NA 0.379445 0.164259 NA 0.312 NA 3.893055 1271 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 1271 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 1271 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 1271 4 57906986 57906986 A T intronic IGFBP7 NA NA NA intronic ENSG00000163453 NA NA NA NA NA 4q12 NA NA Name=14 NA rs3755906 0.3 0.3 0.305 0.305511 0.3797 0.2232 0.2507 0.2958 0.3661 0.36 0.21 0.28 0.31 0.3515 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.484818 NA NA 0.376047 0.320926 NA 0.399 NA 3.892753 1271 12 56649601 56649601 A G exonic ANKRD52 NA synonymous SNV ANKRD52:NM_173595:exon5:c.T429C:p.A143A exonic ENSG00000139645 NA synonymous SNV ENSG00000139645:ENST00000267116:exon5:c.T429C:p.A143A Score=710;Name=lod=1025 NA 12q13.3 NA NA NA NA rs1274490 0.82 0.82 0.783 0.80631 0.9304 0.9643 0.8862 0.4206 0.9806 0.93 0.96 0.89 0.45 0.9105 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 1.501755 1.501755 NA 0.93378 0.50814 ID=COSM431508;OCCURENCE=1(breast) 0.783 NA 3.8919866 1271 1 21097584 21097584 A T intronic HP1BP3 NA NA NA intronic ENSG00000127483 NA NA NA NA NA 1p36.12 NA NA NA NA rs17408249 0.02 0.02 0.012 0.0133786 0.0417 NA 0.0202 0.0023 0.0082 0.05 NA 0.03 0.0041 0.0296 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 0.907934 NA NA 0.036744 0.009759 NA 0.022 NA 3.891956 1271 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 1271 4 20620683 20620683 G A UTR3 SLIT2 NM_004787:c.*51G>A NA NA UTR3 ENSG00000145147 ENST00000503823:c.*51G>A,ENST00000504154:c.*51G>A,ENST00000273739:c.*51G>A,ENST00000503837:c.*51G>A NA NA Score=435;Name=lod=78 Name=Echocardiographic traits 4p15.31 NA NA NA NA rs1379659 0.86 0.86 0.87 0.882987 0.7962 0.8323 0.8963 0.9924 0.8671 0.79 0.86 0.87 0.99 0.8448 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 -0.695703 NA NA 0.800581 0.959828 NA 0.841 NA 3.8917524 1271 20 42814890 42814890 G A intronic JPH2 NA NA NA intronic ENSG00000149596 NA NA NA NA NA 20q13.12 NA NA NA NA rs75804573 0.06 0.06 0.071 0.0672923 0.1083 0.0109 0.098 0.0303 0.1115 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 -0.498051 NA NA NA NA NA 0.058 NA 3.8917 1271 13 41902939 41902939 T C exonic NAA16 NA synonymous SNV NAA16:NM_001110798:exon7:c.T771C:p.N257N,NAA16:NM_018527:exon7:c.T771C:p.N257N,NAA16:NM_024561:exon7:c.T771C:p.N257N exonic ENSG00000172766 NA synonymous SNV ENSG00000172766:ENST00000379367:exon7:c.T771C:p.N257N,ENSG00000172766:ENST00000379406:exon7:c.T771C:p.N257N,ENSG00000172766:ENST00000403412:exon7:c.T771C:p.N257N,ENSG00000172766:ENST00000464857:exon7:c.T771C:p.N257N Score=642;Name=lod=543 NA 13q14.11 NA NA NA NA rs3812896 0.95 0.95 0.94 0.964657 0.9076 0.9712 0.9683 0.9841 0.9877 0.91 0.96 0.98 0.99 0.9473 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 1.129823 NA NA 0.920195 0.977985 NA 0.993 NA 3.8915716 1271 1 17371221 17371221 C T intronic SDHB NA NA NA intronic ENSG00000117118 NA NA NA NA NA 1p36.13 NA NA NA NA rs61769190 0.02 0.02 0.016 0.0123802 0.0447 NA 0.0187 0.0008 0.0031 0.04 NA 0.02 0.002 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 0.464003 NA NA 0.037442 0.006582 NA NA NA 3.891558 1271 17 38991032 38991032 T A exonic TMEM99 NA synonymous SNV TMEM99:NM_001195386:exon3:c.T264A:p.G88G,TMEM99:NM_001195387:exon3:c.T264A:p.G88G,TMEM99:NM_145274:exon3:c.T264A:p.G88G exonic ENSG00000167920 NA synonymous SNV ENSG00000167920:ENST00000301665:exon3:c.T264A:p.G88G,ENSG00000167920:ENST00000436612:exon3:c.T264A:p.G88G NA NA 17q21.2 NA NA NA NA rs6694 0.55 0.55 0.54 0.583067 0.6064 0.4494 0.4539 0.6846 0.6513 0.6 0.43 0.51 0.66 0.5719 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.540123 NA NA 0.596864 0.678089 NA 0.63 NA 3.8915026 1271 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 1271 2 202619175 202619175 G C intronic ALS2 NA NA NA intronic ENSG00000003393 NA NA NA NA NA 2q33.1 NA NA NA NA rs41308820 0.02 0.02 0.024 0.0161741 0.0467 0.001 0.0072 0.0023 0.0256 0.06 0.0017 0.0028 0.01 0.0275 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 0.297373 NA NA 0.034731 0.005325 NA 0.014 NA 3.891069 1271 4 103514658 103514658 T C exonic NFKB1 NA synonymous SNV NFKB1:NM_001165412:exon12:c.T1140C:p.A380A,NFKB1:NM_003998:exon12:c.T1143C:p.A381A exonic ENSG00000109320 NA synonymous SNV ENSG00000109320:ENST00000600343:exon5:c.T600C:p.A200A,ENSG00000109320:ENST00000508584:exon6:c.T522C:p.A174A,ENSG00000109320:ENST00000226574:exon12:c.T1143C:p.A381A,ENSG00000109320:ENST00000394820:exon12:c.T1140C:p.A380A,ENSG00000109320:ENST00000505458:exon12:c.T1140C:p.A380A NA NA 4q24 Score=880;Name=V$ZID_01 NA NA NA rs1609993 0.96 0.96 0.957 0.969848 0.9165 0.999 0.9294 0.9977 0.9857 0.91 1 0.94 1 0.9401 1 NA NA 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 0.919186 0.986609 NA 0.841 NA 3.8908806 1271 6 107006347 107006347 T C intronic AIM1 NA NA NA intronic ENSG00000112297 NA NA NA NA NA 6q21 NA Name=FOXA1_(SC-101058),TCF4 Name=2 NA rs4946763 0.61 0.61 0.571 0.597644 0.6829 0.6438 0.6254 0.3752 0.7434 0.69 0.67 0.64 0.38 0.6973 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 1.096186 NA NA 0.728953 0.431003 NA 0.645 NA 3.890847 1271 14 22946959 22946959 G C intergenic OR4E2,DAD1 dist=812721;dist=86848 NA NA ncRNA_intronic ENSG00000251002 NA NA NA NA NA 14q11.2 NA NA NA NA rs8012946 0.09 0.09 0.083 0.0808706 0.1093 0.001 0.0965 0.1377 0.046 0.1 0.0017 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 0.333198 NA NA NA NA NA 0.043 NA 3.8907 1271 2 131800943 131800943 G C intronic ARHGEF4 NA NA NA intronic ENSG00000136002 NA NA NA NA NA 2q21.1 NA NA NA NA rs2288189 0.2 0.2 0.197 0.241014 0.1093 0.1339 0.1427 0.475 0.2403 0.11 0.14 0.14 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 -0.783152 NA NA NA NA NA 0.174 NA 3.8907 1271 20 62372706 62372706 G A intronic SLC2A4RG NA NA NA intronic ENSG00000125520 NA NA NA NA NA 20q13.33 NA Name=BHLHE40,Sin3Ak-20,Mxi1_(bHLH),Max,c-Myc,E2F6_(H-50),E2F6,USF-1,USF1_(SC-8983) Name=136 NA rs4809221 0.62 0.62 0.646 0.651757 0.7207 0.372 0.6686 0.7073 0.7822 0.71 0.37 0.73 0.71 0.6928 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 1.019636 NA NA 0.695814 0.695593 NA 0.761 NA 3.890686 1271 5 180056863 180056863 C T intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA rs56361806 0.03 0.03 0.028 0.0323482 0.0378 NA 0.0216 0.0734 0.0123 0.04 NA 0.03 0.06 0.0337 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 -2.372195 NA NA 0.037925 0.063607 NA 0.101 NA 3.890575 1271 8 145980057 145980057 G A intronic ZNF251 NA NA NA intronic ENSG00000198169 NA NA NA NA NA 8q24.3 NA NA NA NA rs112461908 0.02 0.02 0.009 0.0121805 0.0358 NA 0.0259 0.0015 0.0051 0.03 NA 0.04 NA 0.0347 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 -0.215728 NA NA 0.039046 0.006683 NA 0.007 NA 3.890454 1271 9 130475011 130475011 T C exonic C9orf117 NA synonymous SNV C9orf117:NM_001012502:exon7:c.T1161C:p.S387S exonic ENSG00000160401 NA synonymous SNV ENSG00000160401:ENST00000373293:exon1:c.T108C:p.S36S,ENSG00000160401:ENST00000373295:exon7:c.T1161C:p.S387S NA NA 9q34.11 NA NA NA NA rs522328 0.62 0.62 0.611 0.63738 0.6054 0.3651 0.6066 0.9039 0.6125 0.61 0.38 0.61 0.9 0.6011 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 0.132116 NA NA 0.569727 0.846381 NA 0.703 NA 3.8904396 1271 16 4674954 4674954 C G UTR5 MGRN1 NM_001142291:c.-8C>G,NM_001142289:c.-8C>G,NM_001142290:c.-8C>G,NM_015246:c.-8C>G NA NA UTR5 ENSG00000102858 ENST00000262370:c.-8C>G,ENST00000415496:c.-8C>G,ENST00000536343:c.-8C>G,ENST00000587747:c.-8C>G,ENST00000399577:c.-8C>G NA NA NA NA 16p13.3 NA Name=HMGN3,TAF1,Pol2-4H8,HEY1,Pol2,Pol2(phosphoS2),HA-E2F1,POU2F2,CCNT2,Egr-1,YY1,GR,YY1_(C-20),c-Myc,Oct-2,Sin3Ak-20 Name=35 NA rs3747587 0.7 0.7 0.722 0.652556 0.8211 0.8641 0.8343 0.205 0.7372 0.82 0.89 0.81 0.22 0.8047 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 2.458991 2.458991 NA 0.817458 0.344891 NA NA NA 3.8900754 1271 10 96353201 96353201 G A intronic HELLS NA NA NA ncRNA_intronic ENSG00000244332 NA NA NA NA NA 10q23.33 NA NA NA NA rs3781262 0.52 0.52 0.547 0.551118 0.4433 0.7927 0.3285 0.5151 0.6196 0.43 0.78 0.36 0.5 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 -0.788797 NA NA NA NA NA 0.558 NA 3.8900333 1271 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 1271 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 1271 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 1271 14 105417102 105417102 T C exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.A4686G:p.P1562P exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.A4686G:p.P1562P NA NA 14q32.33 NA NA NA NA rs2248966 0.45 0.45 0.517 0.55611 0.5984 0.374 0.487 0.6172 0.6667 0.44 0.31 0.48 0.59 0.5793 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.346023 NA NA 0.599409 0.63099 NA 0.167 NA 3.8895576 1271 19 8953801 8953801 T C exonic MBD3L1 NA synonymous SNV MBD3L1:NM_145208:exon1:c.T447C:p.V149V exonic ENSG00000170948 NA synonymous SNV ENSG00000170948:ENST00000305625:exon1:c.T447C:p.V149V,ENSG00000170948:ENST00000595891:exon3:c.T447C:p.V149V NA NA 19p13.2 Score=765;Name=V$STAT5A_02 NA NA NA rs2969292 0.91 0.91 0.917 0.911741 0.9254 0.9107 0.8602 0.9092 0.9387 0.91 0.92 0.9 0.9 0.9224 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 -1.049983 NA NA 0.929767 0.911257 NA 0.906 NA 3.8890996 1271 11 66100693 66100693 C T intronic RIN1 NA NA NA intronic ENSG00000174791 NA NA NA NA NA 11q13.2 NA NA NA NA rs75904234 0.01 0.01 0.008 0.0127796 0.0348 0.001 0.0086 0.0023 0.0194 0.03 NA 0.0028 NA 0.0312 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 -0.327248 NA NA 0.045179 0.011591 NA 0.007 NA 3.888821 1271 11 117329415 117329415 G A intronic DSCAML1 NA NA NA intronic ENSG00000177103 NA NA NA NA NA 11q23.3 NA NA NA NA rs520328 0.11 0.11 0.09 0.121406 0.1113 0.121 0.219 0.0363 0.1779 0.11 0.11 0.17 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 -0.006165 NA NA NA NA NA 0.123 NA 3.8887 1271 11 71155153 71155153 A G exonic DHCR7 NA synonymous SNV DHCR7:NM_001163817:exon4:c.T207C:p.T69T,DHCR7:NM_001360:exon4:c.T207C:p.T69T exonic ENSG00000172893 NA synonymous SNV ENSG00000172893:ENST00000526780:exon3:c.T207C:p.T69T,ENSG00000172893:ENST00000355527:exon4:c.T207C:p.T69T,ENSG00000172893:ENST00000407721:exon4:c.T207C:p.T69T,ENSG00000172893:ENST00000525346:exon4:c.T207C:p.T69T,ENSG00000172893:ENST00000527316:exon4:c.T111C:p.T37T,ENSG00000172893:ENST00000527452:exon4:c.T207C:p.T69T,ENSG00000172893:ENST00000529990:exon4:c.T147C:p.T49T,ENSG00000172893:ENST00000531364:exon4:c.T207C:p.T69T NA NA 11q13.4 NA NA NA NA rs1790334 0.87 0.87 0.889 0.810104 0.9553 0.8274 0.8069 0.8215 0.6299 0.95 0.87 0.81 0.79 0.8755 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 0.309443 NA NA 0.947601 0.845227 NA 0.819 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079649.1;CLNDSDB=.;CLNDSDBID=. 3.8882656 1271 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 1271 15 89734396 89734396 G A intronic ABHD2 NA NA NA intronic ENSG00000140526 NA NA NA NA NA 15q26.1 NA NA NA NA rs78702289 0.02 0.02 0.018 0.0199681 0.0408 NA 0.0245 0.0008 0.0419 0.03 0.0017 0.02 0.002 0.033 0.038 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124631 NA NA 0.038265 0.009091 NA NA NA 3.887935 1271 3 138329862 138329862 G A exonic FAIM NA synonymous SNV FAIM:NM_001033030:exon2:c.G63A:p.P21P exonic ENSG00000158234 NA synonymous SNV ENSG00000158234:ENST00000338446:exon2:c.G63A:p.P21P NA NA 3q22.3 NA NA NA NA rs811322 0.69 0.69 0.669 0.70647 0.5567 0.9802 0.7262 0.5492 0.7771 0.57 0.99 0.68 0.55 0.6504 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 -0.446423 NA NA 0.572326 0.567635 NA 0.536 NA 3.8872406 1271 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 1271 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 1271 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 1271 11 103123999 103123999 G T intronic DYNC2H1 NA NA NA intronic ENSG00000187240 NA NA NA NA NA 11q22.3 NA NA NA NA rs648387 0.42 0.42 0.379 0.429313 0.3787 0.4474 0.3271 0.5023 0.4366 0.38 0.47 0.34 0.49 0.3764 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.168707 NA NA 0.358266 0.453663 NA 0.37 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079442.1;CLNDSDB=.;CLNDSDBID=. 3.886634 1271 3 192125768 192125768 A G intronic FGF12 NA NA NA intronic ENSG00000114279 NA NA NA NA NA 3q28 NA NA Name=38 NA rs2249551 0.49 0.49 0.494 0.509585 0.338 0.6409 0.4524 0.615 0.4489 0.35 0.64 0.44 0.58 0.4218 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.07628 NA NA 0.353659 0.5145 NA 0.37 NA 3.886541 1271 1 24201094 24201094 G C exonic CNR2 NA synonymous SNV CNR2:NM_001841:exon2:c.C1014G:p.T338T exonic ENSG00000188822 NA synonymous SNV ENSG00000188822:ENST00000374472:exon2:c.C1014G:p.T338T,ENSG00000188822:ENST00000536471:exon3:c.C1014G:p.T338T NA NA 1p36.11 NA NA NA NA rs2229581 0.64 0.64 0.693 0.653355 0.5875 0.502 0.6383 0.7943 0.6973 0.59 0.55 0.64 0.81 0.619 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 -1.095793 NA NA 0.573837 0.751929 ID=COSM146443;OCCURENCE=1(stomach) 0.754 NA 3.8863296 1271 1 24201109 24201109 C T exonic CNR2 NA synonymous SNV CNR2:NM_001841:exon2:c.G999A:p.P333P exonic ENSG00000188822 NA synonymous SNV ENSG00000188822:ENST00000374472:exon2:c.G999A:p.P333P,ENSG00000188822:ENST00000536471:exon3:c.G999A:p.P333P NA NA 1p36.11 NA NA NA NA rs2229580 0.64 0.64 0.7 0.653355 0.5875 0.502 0.6383 0.7943 0.6973 0.59 0.55 0.64 0.81 0.619 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 -1.322894 NA NA 0.573837 0.751475 ID=COSM146444;OCCURENCE=1(stomach) 0.754 NA 3.8863296 1271 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 1271 1 24201448 24201448 C T exonic CNR2 NA synonymous SNV CNR2:NM_001841:exon2:c.G660A:p.V220V exonic ENSG00000188822 NA synonymous SNV ENSG00000188822:ENST00000374472:exon2:c.G660A:p.V220V,ENSG00000188822:ENST00000536471:exon3:c.G660A:p.V220V NA NA 1p36.11 NA NA NA NA rs3003336 0.64 0.64 0.694 0.653355 0.5875 0.502 0.6383 0.7943 0.6973 0.59 0.55 0.64 0.81 0.6191 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 -0.764113 NA NA 0.574419 0.751929 ID=COSM146446;OCCURENCE=1(stomach) 0.746 NA 3.8856476 1271 1 176118219 176118219 G A intronic RFWD2 NA NA NA intronic ENSG00000143207 NA NA NA Score=634;Name=lod=505 NA 1q25.2 NA NA NA NA rs3748618 0.31 0.31 0.249 0.27496 0.3986 0.3542 0.3876 0.0378 0.3067 0.4 0.36 0.4 0.05 0.3504 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.882243 2.882243 NA 0.365899 0.071363 NA 0.355 NA 3.885101 1271 10 105204453 105204453 C G intronic PDCD11 NA NA NA intronic ENSG00000148843 NA NA NA NA NA 10q24.33 NA NA NA NA rs34354196 0.02 0.02 NA 0.0205671 0.0676 NA 0.0259 0.0045 0.0112 0.05 NA 0.03 0.002 0.0468 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 0.293364 NA NA 0.000581 0 NA NA NA 3.885019 1272 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 1272 7 144098992 144098992 G A exonic NOBOX NA synonymous SNV NOBOX:NM_001080413:exon3:c.C262T:p.L88L exonic ENSG00000106410 NA synonymous SNV ENSG00000106410:ENST00000467773:exon3:c.C262T:p.L88L,ENSG00000106410:ENST00000483238:exon3:c.C262T:p.L88L NA NA 7q35 NA NA NA NA rs727714 0.66 0.66 0.653 0.70627 0.5795 0.8343 0.6282 0.6498 0.8364 0.57 0.84 0.61 0.65 0.6312 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 -0.283718 NA NA 0.571776 0.662963 NA 0.601 NA 3.8841906 1272 11 48145247 48145247 T C exonic PTPRJ NA synonymous SNV PTPRJ:NM_001098503:exon5:c.T699C:p.T233T,PTPRJ:NM_002843:exon5:c.T699C:p.T233T exonic ENSG00000149177 NA synonymous SNV ENSG00000149177:ENST00000527952:exon4:c.T435C:p.T145T,ENSG00000149177:ENST00000418331:exon5:c.T699C:p.T233T,ENSG00000149177:ENST00000440289:exon5:c.T699C:p.T233T NA NA 11p11.2 NA NA NA NA rs2270992 0.49 0.49 0.432 0.452276 0.6074 0.4812 0.6614 0.1157 0.5695 0.62 0.55 0.65 0.13 0.5721 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.548362 NA NA 0.603188 0.205816 NA 0.457 NA 3.8839786 1272 16 50100253 50100253 T A intronic HEATR3 NA NA NA intronic ENSG00000155393 NA NA NA NA NA 16q12.1 NA Name=Pol2,E2F6_(H-50),Max,Nrf1,Mxi1_(bHLH) Name=138 NA rs4389139 0.6 0.6 0.571 0.598642 0.7097 0.6429 0.7118 0.3298 0.7219 0.72 0.62 0.7 0.33 0.6948 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.77988 1.77988 NA 0.711891 0.404119 NA 0.007 NA 3.883609 1272 17 76491194 76491194 G A ncRNA_intronic LOC100996295 NA NA NA ncRNA_intronic ENSG00000267432 NA NA NA NA NA 17q25.3 NA NA NA NA rs11077375 0.21 0.21 0.195 0.237819 0.2217 0.251 0.3084 0.1369 0.3272 0.21 0.27 0.27 0.09 0.317 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.912728 NA NA 0.244694 0.147116 NA 0.232 NA 3.8832726 1272 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 1272 22 44696721 44696721 C T intronic KIAA1644 NA NA NA intronic ENSG00000138944 NA NA NA NA NA 22q13.31 NA NA NA NA rs113050020 0.02 0.02 0.02 0.0141773 0.0447 NA 0.0274 0.0045 0.001 0.05 NA 0.03 0.01 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 0.770518 NA NA 0.043868 0.008598 NA NA NA 3.882932 1272 20 62372813 62372813 G A exonic SLC2A4RG NA synonymous SNV SLC2A4RG:NM_020062:exon3:c.G372A:p.P124P exonic ENSG00000125520 NA synonymous SNV ENSG00000125520:ENST00000266077:exon3:c.G372A:p.P124P NA NA 20q13.33 NA Name=YY1_(C-20) NA NA rs2427536 0.96 0.96 0.959 0.973642 0.9155 0.995 0.9597 0.9962 0.9908 0.92 0.99 0.94 0.99 0.9456 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 -0.772665 NA 0.23 0.922656 0.983182 NA 0.978 NA 3.8829106 1272 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 1272 4 68777054 68777054 C T UTR3 TMPRSS11A NM_182606:c.*6G>A,NM_001114387:c.*6G>A NA NA ncRNA_UTR3 ENSG00000187054 NA NA NA NA NA 4q13.2 NA NA NA NA rs12646286 0.26 0.26 0.264 0.241214 0.2028 0.5327 0.17 0.053 0.2853 0.21 0.55 0.18 0.07 0.2272 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075824 NA NA 0.187791 0.080345 NA 0.203 NA 3.882209 1272 4 187122304 187122304 C T intronic CYP4V2 NA NA NA intronic ENSG00000145476 NA NA NA NA NA 4q35.2 Score=783;Name=V$XBP1_01 NA NA NA rs3817184 0.33 0.33 0.333 0.292332 0.3837 0.3413 0.2781 0.3064 0.1391 0.39 0.3 0.29 0.3 0.3377 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.054865 NA NA 0.396628 0.310713 ID=COSM149772;OCCURENCE=1(stomach) 0.297 NA 3.881972 1272 17 38950272 38950272 T C exonic KRT28 NA synonymous SNV KRT28:NM_181535:exon6:c.A1005G:p.T335T exonic ENSG00000173908 NA synonymous SNV ENSG00000173908:ENST00000306658:exon6:c.A1005G:p.T335T NA NA 17q21.2 NA NA NA NA rs2250671 0.59 0.59 0.563 0.618411 0.6213 0.4196 0.5259 0.8116 0.6247 0.61 0.43 0.55 0.77 0.5807 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 0.023959 NA NA 0.582791 0.770086 NA 0.746 NA 3.8818756 1272 7 135307489 135307489 T C intronic NUP205 NA NA NA intronic ENSG00000155561 NA NA NA NA NA 7q33 NA NA NA NA rs73725199 0.03 0.03 0.029 0.0355431 0.0457 0.003 0.049 0.0356 0.0491 0.04 0.0035 0.05 0.03 0.0335 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 0.610706 NA NA 0.03907 0.033137 NA 0.065 NA 3.88173 1272 1 16376319 16376319 T C exonic CLCNKB NA synonymous SNV CLCNKB:NM_001165945:exon3:c.T369C:p.C123C,CLCNKB:NM_000085:exon10:c.T876C:p.C292C exonic ENSG00000184908 NA synonymous SNV ENSG00000184908:ENST00000375667:exon3:c.T369C:p.C123C,ENSG00000184908:ENST00000375679:exon10:c.T876C:p.C292C Score=391;Name=lod=52 NA 1p36.13 NA NA NA NA rs7368151 0.86 0.86 0.846 0.830072 0.9384 0.999 0.9107 0.4939 0.9417 0.95 1 0.9 0.56 0.9114 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.841574 NA NA 0.935349 0.580345 NA 0.783 NA 3.8815176 1272 11 1279527 1279527 A T intronic MUC5B NA NA NA intronic ENSG00000117983 NA NA NA NA NA 11p15.5 NA NA NA NA rs55954116 0.05 0.05 0.053 0.0692891 0.0388 0.002 0.0476 0.1505 0.0757 0.04 0.0017 0.06 0.14 0.0464 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207117 NA NA 0.033982 0.152334 NA 0.036 NA 3.880818 1272 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 1272 1 6158562 6158562 A G exonic KCNAB2 NA synonymous SNV KCNAB2:NM_001199863:exon14:c.A831G:p.S277S,KCNAB2:NM_172130:exon15:c.A990G:p.S330S,KCNAB2:NM_001199860:exon16:c.A1032G:p.S344S,KCNAB2:NM_001199861:exon16:c.A1032G:p.S344S,KCNAB2:NM_001199862:exon16:c.A1176G:p.S392S,KCNAB2:NM_003636:exon16:c.A1032G:p.S344S exonic ENSG00000069424 NA synonymous SNV ENSG00000069424:ENST00000458166:exon14:c.A831G:p.S277S,ENSG00000069424:ENST00000352527:exon15:c.A990G:p.S330S,ENSG00000069424:ENST00000378092:exon15:c.A990G:p.S330S,ENSG00000069424:ENST00000164247:exon16:c.A1032G:p.S344S,ENSG00000069424:ENST00000341524:exon16:c.A1032G:p.S344S,ENSG00000069424:ENST00000378083:exon16:c.A1176G:p.S392S,ENSG00000069424:ENST00000378097:exon16:c.A1032G:p.S344S NA NA 1p36.31 NA NA NA NA rs2229002 0.56 0.56 0.527 0.54393 0.6093 0.4018 0.6095 0.6415 0.4448 0.62 0.37 0.62 0.63 0.575 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.779667 NA NA 0.60186 0.639419 NA 0.652 NA 3.8805066 1272 3 126747015 126747015 C T intronic PLXNA1 NA NA NA intronic ENSG00000114554 NA NA NA NA NA 3q21.3 NA NA NA NA rs114317796 0.02 0.02 0.022 0.0161741 0.0497 NA 0.0231 0.0023 0.0123 0.05 NA 0.02 0.01 0.0276 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 -0.664089 NA NA 0.042209 0.007947 NA 0.014 NA 3.880491 1272 1 24460797 24460797 T G exonic IL22RA1 NA synonymous SNV IL22RA1:NM_021258:exon4:c.A435C:p.P145P exonic ENSG00000142677 NA synonymous SNV ENSG00000142677:ENST00000270800:exon4:c.A435C:p.P145P NA NA 1p36.11 NA NA NA NA rs17852649 0.54 0.54 0.529 0.523562 0.6123 0.2956 0.4625 0.6989 0.4734 0.62 0.3 0.5 0.73 0.5715 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 -1.010872 NA NA 0.602442 0.693373 NA 0.623 NA 3.8804246 1272 12 24985637 24985637 T C intronic BCAT1 NA NA NA ncRNA_intronic ENSG00000256482 NA NA NA NA NA 12p12.1 NA NA NA NA rs3736211 0.14 0.14 0.147 0.147564 0.1461 0.1815 0.1095 0.1377 0.1544 0.15 0.15 0.1 0.15 0.1703 0.15 NA NA 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 0.13675 0.131398 NA 0.058 NA 3.8801833 1272 21 38439504 38439504 A G intronic PIGP NA NA NA intronic ENSG00000185808 NA NA NA NA NA 21q22.13 NA NA NA NA rs2835570 0.14 0.14 0.132 0.120607 0.1203 0.0466 0.1671 0.2269 0.0204 0.12 0.04 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 3.142683 3.142683 NA NA NA NA 0.188 NA 3.8797 1272 1 10338204 10338204 C T intronic KIF1B NA NA NA intronic ENSG00000054523 NA NA NA NA NA 1p36.22 NA NA NA NA rs41274456 0.02 0.02 0.022 0.0145767 0.0447 0.001 0.0216 0.0023 0.0092 0.05 0.0017 0.03 0.0041 0.0327 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 0.487585 NA NA 0.043023 0.007036 NA 0.087 NA 3.879577 1272 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 1272 1 151508061 151508061 A C intronic CGN NA NA NA intronic ENSG00000143375 NA NA NA NA NA 1q21.3 NA NA Name=30 NA rs11204842 0.25 0.25 0.255 0.263578 0.3638 0.0952 0.2536 0.2458 0.365 0.36 0.07 0.28 0.25 0.3424 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.5345 1.5345 NA 0.414535 0.279846 NA 0.217 NA 3.879265 1272 2 29293446 29293446 A G intronic C2orf71 NA NA NA intronic ENSG00000179270 NA NA NA NA NA 2p23.2 NA NA NA NA rs72861052 0.05 0.05 0.052 0.0567093 0.0417 0.003 0.0447 0.1399 0.0235 0.04 NA 0.04 0.14 0.0403 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.028499 NA NA 0.038796 0.135363 NA 0.13 NA 3.879204 1272 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 1272 12 133208979 133208979 T C exonic POLE NA synonymous SNV POLE:NM_006231:exon45:c.A6252G:p.S2084S exonic ENSG00000177084 NA synonymous SNV ENSG00000177084:ENST00000535270:exon44:c.A6171G:p.S2057S,ENSG00000177084:ENST00000320574:exon45:c.A6252G:p.S2084S NA NA 12q24.33 NA NA NA NA rs5745022 0.69 0.69 0.688 0.699081 0.5656 0.7788 0.7464 0.7844 0.6053 0.56 0.79 0.72 0.76 0.6381 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 -0.130569 NA NA 0.584302 0.756695 NA 0.725 NA 3.8786646 1272 20 58381269 58381269 C T intronic PHACTR3 NA NA NA intronic ENSG00000087495 NA NA NA NA NA 20q13.32 NA NA NA NA rs2275389 0.14 0.14 0.138 0.170327 0.0179 0.4038 0.0476 0.0885 0.2843 0.02 0.41 0.05 0.07 0.0868 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076492 NA NA 0.01686 0.055833 NA 0.094 NA 3.87844 1272 15 78211164 78211164 G A ncRNA_exonic LOC645752 NA NA NA ncRNA_exonic ENSG00000260776 NA NA NA Score=521;Name=lod=174 NA 15q24.3 NA NA NA NA rs12592306 0.8 0.8 0.79 0.764177 0.9314 0.8671 0.7334 0.6399 0.6759 0.9 0.8 0.76 0.66 0.857 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 0.286583 NA NA NA NA NA 0.225 NA 3.8782666 1272 8 67998470 67998470 A G intronic CSPP1 NA NA NA intronic ENSG00000104218 NA NA NA NA NA 8q13.1 NA NA NA NA rs77083068 0.02 0.02 0.016 0.0217652 0.0368 0.0169 0.0331 0.003 0.0286 0.04 0.01 0.03 0.002 0.0393 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 -0.534347 NA NA 0.045752 0.009725 NA NA NA 3.878148 1272 16 48292513 48292513 A G ncRNA_intronic MIR548AE2 NA NA NA intronic ENSG00000102910 NA NA NA NA NA 16q12.1 NA NA NA NA rs16946038 0.13 0.13 0.123 0.132188 0.163 0.0208 0.1383 0.2443 0.0593 0.16 0.01 0.17 0.21 0.1412 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.857565 2.857565 NA 0.151163 0.229545 NA 0.188 NA 3.8779703 1272 19 40739513 40739513 A G UTR3 AKT2 NM_001626:c.*266T>C,NM_001243027:c.*266T>C,NM_001243028:c.*266T>C NA NA UTR3 ENSG00000105221 ENST00000392038:c.*266T>C NA NA NA NA 19q13.2 NA NA NA NA rs33933140 0.41 0.41 0.374 0.42492 0.4891 0.502 0.5418 0.1278 0.5982 0.48 0.47 0.51 0.14 0.4851 0.51 0.24 T . . . . . . 1.000 P . . . . -0.898 T 0.000 T . 1.036 9.232 1.87 0.222 -0.598 9.078 1.036118 NA 0 0.481165 0.194064 NA 0.254 NA 3.8779684 1272 1 248039713 248039713 A G exonic TRIM58 NA synonymous SNV TRIM58:NM_015431:exon6:c.A1383G:p.T461T exonic ENSG00000162722 NA synonymous SNV ENSG00000162722:ENST00000366481:exon6:c.A1383G:p.T461T NA NA 1q44 NA NA NA NA rs3811445 0.58 0.58 0.552 0.584065 0.5865 0.5417 0.7075 0.534 0.6053 0.59 0.56 0.68 0.53 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 -0.081706 NA NA 0.593837 0.570813 NA 0.623 NA 3.8777296 1272 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 1272 19 45389224 45389224 A G exonic PVRL2 NA synonymous SNV PVRL2:NM_001042724:exon7:c.A1227G:p.P409P exonic ENSG00000130202 NA synonymous SNV ENSG00000130202:ENST00000252483:exon7:c.A1227G:p.P409P NA NA 19q13.32 NA Name=GR,STAT1 NA NA rs283814 0.96 0.96 0.956 0.970847 0.9145 1 0.9467 0.997 0.9806 0.92 1 0.95 0.99 0.9503 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.959073 NA NA 0.925082 0.984807 NA 0.935 NA 3.8767846 1272 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 1272 9 140331548 140331548 G A intronic ENTPD8 NA NA NA intronic ENSG00000188833 NA NA NA NA NA 9q34.3 NA NA NA NA rs28606499 0.07 0.07 0.055 0.0597045 0.1233 0.005 0.0504 0.0545 0.0644 0.13 0.01 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 -0.852617 NA NA NA NA NA 0.029 NA 3.8767 1272 9 90342476 90342476 C G intronic CTSL1 NA NA NA intronic ENSG00000135047 NA NA NA NA NA 9q21.33 NA NA NA NA rs10123692 0.04 0.04 0.033 0.0315495 0.0427 NA 0.0331 0.0613 0.0112 0.04 NA 0.06 0.07 0.0369 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 -0.67643 NA NA 0.04407 0.065819 NA 0.022 NA 3.87633 1272 3 45527218 45527218 T C exonic LARS2 NA synonymous SNV LARS2:NM_015340:exon11:c.T1053C:p.L351L exonic ENSG00000011376 NA synonymous SNV ENSG00000011376:ENST00000414984:exon9:c.T924C:p.L308L,ENSG00000011376:ENST00000415258:exon10:c.T1053C:p.L351L,ENSG00000011376:ENST00000265537:exon11:c.T1053C:p.L351L Score=481;Name=lod=120 NA 3p21.31 NA NA NA NA rs7610357 0.82 0.82 0.787 0.782947 0.9423 0.9782 0.9092 0.3404 0.9264 0.94 0.98 0.92 0.39 0.9026 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 1.033249 NA NA 0.945581 0.439628 NA 0.775 NA 3.8761856 1272 21 44448763 44448763 G C intronic PKNOX1 NA NA NA intronic ENSG00000160199 NA NA NA NA NA 21q22.3 NA NA Name=2 NA rs170916 0.26 0.26 0.242 0.238618 0.3728 0.0933 0.2363 0.1815 0.3292 0.4 0.1 0.27 0.23 0.346 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.98304 NA NA 0.405465 0.223332 NA 0.275 NA 3.875735 1272 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 1272 1 54683925 54683925 G A UTR3 MRPL37 NM_016491:c.*3G>A NA NA UTR3 ENSG00000116221 ENST00000360840:c.*3G>A,ENST00000336230:c.*3G>A NA NA NA NA 1p32.3 NA NA NA NA rs6621 0.22 0.22 0.203 0.229832 0.1282 0.4683 0.2176 0.1165 0.2505 0.13 0.44 0.18 0.13 0.1921 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.158521 NA NA 0.137558 0.122787 NA 0.167 NA 3.8754754 1272 1 32660473 32660473 C T intronic TXLNA NA NA NA intronic ENSG00000084652 NA NA NA NA NA 1p35.1 NA NA NA NA rs41311211 0.02 0.02 0.015 0.0183706 0.0447 NA 0.0202 0.0008 0.0327 0.04 NA 0.03 0.002 0.0326 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 1.0914 NA NA 0.047442 0.011575 NA 0.014 NA 3.875258 1272 10 123503187 123503187 T C UTR3 ATE1 NM_007041:c.*8A>G,NM_001001976:c.*8A>G NA NA UTR3 ENSG00000107669 ENST00000369043:c.*8A>G,ENST00000535655:c.*8A>G,ENST00000224652:c.*8A>G,ENST00000369040:c.*8A>G,ENST00000423243:c.*8A>G,ENST00000540606:c.*8A>G,ENST00000543447:c.*8A>G NA NA NA NA 10q26.13 NA NA NA NA rs10886973 0.22 0.22 0.227 0.260583 0.1382 0.0873 0.3401 0.4902 0.1984 0.15 0.08 0.27 0.46 0.1986 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.773389 NA NA 0.121279 0.442124 NA 0.239 NA 3.8752544 1273 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 1273 10 45938677 45938677 G A intronic ALOX5 NA NA NA intronic ENSG00000012779 NA NA NA NA NA 10q11.21 NA NA NA NA rs28395868 0.02 0.02 0.016 0.0123802 0.0517 0.001 0.0086 0.0008 0.002 0.05 0.0017 0.01 NA 0.0316 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 -0.512563 NA NA 0.04188 0.008174 NA 0.014 NA 3.87482 1273 22 32841760 32841760 C T intronic BPIFC NA NA NA intronic ENSG00000184459 NA NA NA NA NA 22q12.3 NA NA NA NA rs17691853 0.05 0.05 0.031 0.0403355 0.1252 0.001 0.0476 0.0061 0.0348 0.12 0.0017 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 0.48804 NA NA NA NA NA 0.029 NA 3.8748 1273 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 1273 3 160146522 160146522 C A intronic SMC4 NA NA NA intronic ENSG00000113810,ENSG00000248710 NA NA NA NA NA 3q25.33 NA NA NA NA rs62272243 0.02 0.02 0.02 0.0181709 0.0567 NA 0.0187 0.0008 0.0204 0.05 NA 0.03 0.002 0.0347 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 -1.157116 NA NA 0.034784 0.006369 NA 0.109 NA 3.873816 1273 13 51825548 51825548 T C intronic FAM124A NA NA NA intronic ENSG00000150510 NA NA NA NA NA 13q14.3 NA NA NA NA rs3825409 0.16 0.16 0.175 0.147963 0.1262 0.2867 0.1167 0.0946 0.1217 0.12 0.3 0.12 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 -0.650287 NA NA NA NA NA 0.196 NA 3.8738 1273 22 32843145 32843145 G A intronic BPIFC NA NA NA intronic ENSG00000184459 NA NA NA NA NA 22q12.3 NA NA NA NA rs45606632 0.06 0.06 0.043 0.0405351 0.1262 0.001 0.0476 0.0061 0.0348 0.12 0.0017 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 0.626714 NA NA NA NA NA 0.029 NA 3.8738 1273 13 111091024 111091024 C T intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA NA NA rs7983979 0.09 0.09 0.082 0.0982428 0.0358 0.0456 0.0749 0.2042 0.09 0.04 0.05 0.06 0.22 0.0586 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.146837 NA NA 0.032297 0.173138 NA 0.072 NA 3.873303 1273 2 99779131 99779131 T C exonic LIPT1 NA synonymous SNV LIPT1:NM_145199:exon2:c.T711C:p.A237A,LIPT1:NM_001204830:exon3:c.T711C:p.A237A,LIPT1:NM_015929:exon3:c.T711C:p.A237A,LIPT1:NM_145197:exon4:c.T711C:p.A237A,LIPT1:NM_145198:exon4:c.T711C:p.A237A exonic ENSG00000144182 NA synonymous SNV ENSG00000144182:ENST00000393471:exon2:c.T711C:p.A237A,ENSG00000144182:ENST00000340066:exon3:c.T711C:p.A237A,ENSG00000144182:ENST00000393473:exon3:c.T711C:p.A237A,ENSG00000144182:ENST00000434566:exon3:c.T711C:p.A237A,ENSG00000144182:ENST00000393474:exon4:c.T711C:p.A237A,ENSG00000144182:ENST00000393477:exon4:c.T711C:p.A237A NA NA 2q11.2 NA NA NA NA rs2516835 0.52 0.52 0.499 0.496805 0.6103 0.6617 0.5159 0.2065 0.589 0.59 0.66 0.54 0.22 0.5611 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 -0.05621 NA NA 0.621977 0.276441 NA 0.58 NA 3.8732896 1273 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 1273 17 7708402 7708402 G T intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs55676726 0.06 0.06 0.052 0.0654952 0.0417 0.0704 0.0303 0.1104 0.0491 0.04 0.06 0.04 0.12 0.047 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 0.888763 NA NA 0.038023 0.085377 NA 0.029 NA 3.873277 1273 19 56544177 56544177 C T intronic NLRP5 NA NA NA intronic ENSG00000171487 NA NA NA NA NA 19q13.43 NA NA NA NA rs73619264 0.05 0.05 0.049 0.0469249 0.0507 NA 0.0418 0.1142 0.0041 0.05 NA 0.04 0.11 0.0395 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 -0.005294 NA NA 0.036591 0.10894 NA 0.072 NA 3.873209 1273 7 83037751 83037751 C A exonic SEMA3E NA synonymous SNV SEMA3E:NM_001178129:exon6:c.G423T:p.A141A,SEMA3E:NM_012431:exon6:c.G603T:p.A201A exonic ENSG00000170381 NA synonymous SNV ENSG00000170381:ENST00000307792:exon6:c.G603T:p.A201A,ENSG00000170381:ENST00000427262:exon6:c.G423T:p.A141A,ENSG00000170381:ENST00000442159:exon6:c.G423T:p.A141A NA NA 7q21.11 NA NA NA NA rs2722985 0.56 0.56 0.523 0.55631 0.5984 0.8413 0.6801 0.1339 0.7025 0.6 0.84 0.64 0.12 0.6078 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 -0.78823 NA NA 0.587674 0.215615 NA 0.471 NA 3.8727926 1273 11 3128448 3128448 C T intronic OSBPL5 NA NA NA intronic ENSG00000021762 NA NA NA NA NA 11p15.4 NA NA NA NA rs3741354 0.06 0.06 0.077 0.102436 0.0408 0.0218 0.0202 0.2065 0.1667 0.04 0.02 0.03 0.17 0.0575 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.927761 NA NA 0.029231 0.151152 NA 0.087 NA 3.872469 1273 10 135087521 135087521 G A exonic ADAM8 NA nonsynonymous SNV ADAM8:NM_001164490:exon3:c.C136T:p.L46F exonic ENSG00000151651 NA nonsynonymous SNV ENSG00000151651:ENST00000485491:exon3:c.C136T:p.L46F,ENSG00000151651:ENST00000560135:exon3:c.C136T:p.L46F NA NA 10q26.3 NA NA NA NA rs3008326 0.75 0.75 0.735 0.724241 0.827 0.9167 0.7579 0.4228 0.8037 0.84 0.92 0.76 0.43 0.815 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 0.927099 NA 0.22 0.818933 0.495879 NA 0.725 NA 3.8724004 1273 4 46042945 46042945 C T UTR3 GABRG1 NM_173536:c.*60G>A NA NA UTR3 ENSG00000163285 ENST00000295452:c.*60G>A NA NA NA NA 4p12 NA NA NA NA rs6447493 0.49 0.49 0.463 0.461462 0.4612 0.3264 0.4856 0.649 0.3303 0.48 0.34 0.5 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 0.358917 NA NA NA NA NA 0.601 NA 3.8721334 1273 6 51586772 51586772 C T UTR3 PKHD1 NM_170724:c.*12G>A NA NA UTR3 ENSG00000170927 ENST00000340994:c.*12G>A NA NA NA NA 6p12.3 NA NA NA NA rs45451196 0.16 0.16 0.212 0.219449 0.1421 0.125 0.1585 0.4274 0.1585 0.11 0.1 0.16 0.32 0.1691 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196349 NA NA 0.150233 0.36768 ID=COSN167788;OCCURENCE=1(large_intestine) NA NA 3.8719004 1273 2 135214259 135214259 G A UTR3 TMEM163 NM_030923:c.*28C>T NA NA UTR3 ENSG00000152128 ENST00000281924:c.*28C>T NA NA NA NA 2q21.3 NA NA NA NA rs2289470 0.15 0.15 0.177 0.194888 0.1491 0.0675 0.1945 0.3132 0.2137 0.14 0.06 0.17 0.27 0.1578 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.934167 NA NA 0.154535 0.283704 ID=COSN166276;OCCURENCE=1(breast) 0.196 NA 3.8718984 1273 10 29834003 29834003 G A ncRNA_exonic MIR604 NA NA NA ncRNA_exonic ENSG00000207612 NA NA NA NA NA 10p11.23 NA NA NA NA rs2368392 0.3 0.3 0.281 0.323083 0.2425 0.3462 0.2666 0.3676 0.362 0.25 0.33 0.27 0.36 0.2868 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227267 NA NA 0.265773 0.368941 NA 0.355 NA 3.8715936 1273 11 59575156 59575156 G A intronic MRPL16 NA NA NA intronic ENSG00000166902 NA NA NA NA NA 11q12.1 NA NA NA NA rs78416481 0.04 0.04 0.037 0.0377396 0.0457 0.0278 0.0159 0.0658 0.0174 0.05 0.01 0.01 0.06 0.0399 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 3.767006 3.767006 NA 0.042841 0.067697 NA 0.036 NA 3.871559 1273 14 76175594 76175594 G A intronic TTLL5 NA NA NA UTR3 ENSG00000119685 ENST00000286650:c.*3G>A NA NA NA NA 14q24.3 NA Name=CTCF NA NA rs1981899 0.52 0.52 0.486 0.497404 0.675 0.37 0.6138 0.354 0.5573 0.68 0.38 0.64 0.36 0.6205 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051731 NA NA NA NA NA 0.493 NA 3.8711667 1273 2 233244586 233244586 C G exonic ALPP NA synonymous SNV ALPP:NM_001632:exon5:c.C597G:p.S199S exonic ENSG00000163283 NA synonymous SNV ENSG00000163283:ENST00000392027:exon5:c.C597G:p.S199S NA NA 2q37.1 NA Name=Egr-1 NA NA rs2853374 0.92 0.92 0.954 0.948083 0.9433 0.9345 0.8703 0.9924 0.9622 0.91 0.92 0.86 0.99 0.9234 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 -1.226747 NA NA 0.92902 0.979791 NA 0.971 NA 3.8709466 1273 19 33137337 33137337 G T intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs74776662 0.08 0.08 0.082 0.0660942 0.0417 0.1855 0.0893 0.003 0.0368 0.05 0.21 0.06 0.01 0.0513 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466831 NA NA 0.036279 0.011575 ID=COSN165782;OCCURENCE=1(breast) 0.022 NA 3.870721 1273 9 94518328 94518328 C T intronic ROR2 NA NA NA intronic ENSG00000169071 NA NA NA NA NA 9q22.31 NA Name=Max Name=26 NA rs12683181 0.61 0.61 0.616 0.623003 0.7247 0.4931 0.5634 0.6135 0.7076 0.73 0.48 0.56 0.64 0.6752 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 0.447917 NA NA 0.729419 0.644349 NA 0.652 NA 3.870681 1273 7 75617223 75617223 G A intronic TMEM120A NA NA NA intronic ENSG00000189077 NA NA NA NA NA 7q11.23 NA NA NA NA rs147613710 0.02 0.02 0.019 0.0159744 0.0517 NA 0.0259 0.0015 0.0082 0.04 NA 0.02 0.002 0.0385 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 -1.032145 NA NA 0.039161 0.008069 NA NA NA 3.870639 1273 4 1741663 1741663 G A intronic TACC3 NA NA NA ncRNA_exonic ENSG00000218422 NA NA NA NA NA 4p16.3 NA NA NA NA rs111894970 0.08 0.08 0.083 0.0700879 0.1561 0.001 0.0937 0.0348 0.0838 0.16 0.0017 0.1 0.04 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 -0.208179 NA NA 0.182209 0.065592 NA 0.022 NA 3.8703243 1273 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 1273 1 11574366 11574366 C G intronic PTCHD2 NA NA NA intronic ENSG00000204624 NA NA NA NA NA 1p36.22 NA NA NA NA rs10864515 0.25 0.25 0.257 0.259984 0.1302 0.4484 0.1801 0.2602 0.2556 0.13 0.44 0.18 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 -0.001463 NA NA NA NA NA 0.203 NA 3.8698 1273 10 29833998 29833998 A G ncRNA_exonic MIR604 NA NA NA ncRNA_exonic ENSG00000207612 NA NA NA NA NA 10p11.23 NA NA NA NA rs2368393 0.3 0.3 0.287 0.329473 0.2425 0.3462 0.2709 0.3896 0.362 0.25 0.33 0.27 0.38 0.2887 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.522643 NA NA 0.265773 0.389987 NA 0.37 NA 3.8696936 1273 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 1273 X 10085674 10085674 T C exonic WWC3 NA synonymous SNV WWC3:NM_015691:exon11:c.T1575C:p.D525D exonic ENSG00000047644 NA synonymous SNV ENSG00000047644:ENST00000454666:exon10:c.T1575C:p.D525D,ENSG00000047644:ENST00000380861:exon11:c.T1575C:p.D525D NA NA Xp22.2 NA NA NA NA rs6530368 0.94 0.94 0.93641 NA NA NA NA NA NA 0.87 1 0.94 0.99 0.9301 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.762533 NA NA 0.867077 0.979209 NA 0.703 NA 3.8694896 1273 14 105416010 105416010 T C exonic AHNAK2 NA synonymous SNV AHNAK2:NM_138420:exon7:c.A5778G:p.T1926T exonic ENSG00000185567 NA synonymous SNV ENSG00000185567:ENST00000333244:exon7:c.A5778G:p.T1926T NA NA 14q32.33 NA NA NA NA rs2582511 0.55 0.55 0.573 0.583466 0.6014 0.3998 0.4755 0.7057 0.6656 0.59 0.37 0.52 0.73 0.589 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 -1.462357 NA NA 0.6068 0.719851 NA 0.478 NA 3.8694666 1273 1 1687791 1687791 C T intronic NADK NA NA NA intronic ENSG00000008130 NA NA NA NA NA 1p36.33 NA NA NA NA rs72634840 0.02 0.02 0.018 0.014976 0.0507 NA 0.0245 0.0023 0.0041 0.05 NA 0.02 0.01 0.035 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 0.177545 NA NA 0.044884 0.012029 NA 0.138 NA 3.869416 1273 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 1273 6 32627958 32627958 T C UTR3 HLA-DQB1 NM_002123:c.*55A>G,NM_001243961:c.*55A>G NA NA ncRNA_UTR3 ENSG00000179344 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8,Pol2 NA NA rs7656 NA NA 0.765 0.888578 0.8638 0.9415 0.9236 0.7852 0.9744 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 0.02716 NA NA 0.767191 0.680617 NA 0.087 NA 3.869009 1273 17 7533717 7533717 T C intronic SHBG NA NA NA UTR3 ENSG00000129214 ENST00000570527:c.*53T>C NA NA NA NA 17p13.1 NA NA NA NA rs6257 0.05 0.05 0.046 0.071885 0.0974 0.001 0.0504 0.0469 0.1677 0.09 NA 0.06 0.04 0.0983 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 0.456184 NA NA 0.102093 0.053336 NA 0.181 NA 3.8688737 1273 17 3592740 3592740 T C ncRNA_intronic P2RX5-TAX1BP3 NA NA NA intronic ENSG00000083454,ENSG00000257950 NA NA NA NA NA 17p13.2 NA NA NA NA rs220487 0.18 0.18 0.186 0.200479 0.1372 0.2897 0.0836 0.1929 0.2669 0.13 0.29 0.1 0.2 0.1759 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.871626 NA NA 0.151431 0.220127 NA 0.203 NA 3.8688023 1273 4 77039174 77039174 G C intronic NUP54 NA NA NA intronic ENSG00000138750 NA NA NA NA NA 4q21.1 NA NA NA NA rs6813732 0.17 0.17 0.169 0.157548 0.1312 0.3641 0.1282 0.0567 0.1288 0.13 0.35 0.13 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 -0.8215 NA 0 NA NA ID=COSN167248;OCCURENCE=1(large_intestine) 0.123 NA 3.8688 1273 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 1273 12 2064733 2064733 T C intronic DCP1B NA NA NA intronic ENSG00000151065 NA NA NA NA NA 12p13.33 NA NA NA NA rs139886104 0.02 0.02 0.012 0.0121805 0.0338 NA 0.0259 0.0008 0.0082 0.04 NA 0.02 0.002 0.039 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 0.105344 NA NA 0.058605 0.010213 NA NA NA 3.868595 1273 20 61943113 61943113 A T intronic COL20A1 NA NA NA intronic ENSG00000101203 NA NA NA NA NA 20q13.33 NA NA NA NA rs34976669 0.02 0.02 0.024 0.0139776 0.0388 NA 0.0245 0.0045 0.0082 0.04 NA 0.02 0.01 0.046 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 -0.285064 NA NA 0.046618 0.011011 NA 0.007 NA 3.868582 1273 6 33623509 33623509 T C intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs78064999 0.04 0.04 0.039 0.0375399 0.0447 0.0109 0.036 0.0703 0.0143 0.04 0.02 0.04 0.06 0.0386 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 1.18825 NA NA 0.048721 0.073115 NA 0.051 NA 3.867979 1273 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 1273 12 126068417 126068417 T C exonic TMEM132B NA synonymous SNV TMEM132B:NM_052907:exon5:c.T1299C:p.T433T exonic ENSG00000139364 NA synonymous SNV ENSG00000139364:ENST00000299308:exon5:c.T1299C:p.T433T Score=502;Name=lod=146 NA 12q24.32 NA NA NA NA rs6489006 0.95 0.95 0.932 0.921725 0.9324 0.9563 0.9611 0.9395 0.8231 0.94 0.95 0.96 0.95 0.9258 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 -0.640949 NA NA 0.940885 0.933787 NA 0.855 NA 3.8675816 1273 15 62989848 62989848 C G intronic TLN2 NA NA NA intronic ENSG00000171914 NA NA NA NA NA 15q22.2 NA NA NA NA rs28415011 0.07 0.07 0.073 0.105631 0.0368 0.001 0.0216 0.2708 0.1207 0.03 0.0017 0.02 0.23 0.0592 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.364142 NA NA 0.036744 0.244666 NA 0.101 NA 3.867256 1273 2 223423362 223423362 A G exonic SGPP2 NA synonymous SNV SGPP2:NM_152386:exon5:c.A945G:p.P315P exonic ENSG00000163082 NA synonymous SNV ENSG00000163082:ENST00000321276:exon5:c.A945G:p.P315P NA NA 2q36.1 Score=901;Name=V$CEBP_01 NA NA NA rs4674664 0.9 0.9 0.877 0.877796 0.9364 1 0.9193 0.6346 0.9908 0.95 1 0.9 0.7 0.9305 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.174115 NA NA 0.93314 0.707898 NA 0.92 NA 3.8666266 1273 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 1273 12 8386857 8386857 G C ncRNA_intronic FAM86FP NA NA NA ncRNA_intronic ENSG00000164845 NA NA NA NA NA 12p13.31 NA NA NA NA rs2968741 0.71 0.71 0.639 0.662939 0.8002 0.8571 0.6844 0.3434 0.7382 0.8 0.88 0.73 0.34 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 -0.567698 NA NA NA NA NA 0.043 NA 3.8664666 1273 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 1273 17 39661689 39661689 G A exonic KRT13 NA synonymous SNV KRT13:NM_002274:exon1:c.C114T:p.S38S,KRT13:NM_153490:exon1:c.C114T:p.S38S exonic ENSG00000171401 NA synonymous SNV ENSG00000171401:ENST00000246635:exon1:c.C114T:p.S38S,ENSG00000171401:ENST00000336861:exon1:c.C114T:p.S38S,ENSG00000171401:ENST00000587435:exon1:c.C114T:p.S38S,ENSG00000171401:ENST00000587544:exon1:c.C114T:p.S38S Score=251;Name=lod=14 NA 17q21.2 NA NA NA NA rs8182306 0.87 0.87 0.873 0.855032 0.9324 0.9712 0.9135 0.6263 0.9233 0.94 0.97 0.91 0.6 0.9248 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 -0.188105 NA NA 0.943837 0.718566 NA 0.797 NA 3.8656296 1273 2 214727367 214727367 C G intronic SPAG16 NA NA NA intronic ENSG00000144451 NA NA NA NA NA 2q34 NA Name=ERalpha_a NA NA rs2042792 0.38 0.38 0.344 0.383786 0.3688 0.5 0.402 0.2088 0.5031 0.38 0.51 0.37 0.22 0.389 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.115632 NA NA 0.37686 0.229233 ID=COSN166400;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.333 NA 3.86534 1273 16 19873107 19873107 G A intronic GPRC5B NA NA NA intronic ENSG00000167191 NA NA NA NA NA 16p12.3 NA NA NA NA rs2074427 0.11 0.11 0.078 0.126797 0.0626 0.2351 0.2104 0.0038 0.1881 0.06 0.23 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 1.996491 1.996491 NA 0.072074 0.015411 NA 0.094 NA 3.865326 1273 12 72314660 72314660 C T intronic TBC1D15 NA NA NA intronic ENSG00000121749 NA NA NA NA NA 12q21.1 NA NA NA NA rs80351599 0.02 0.02 0.017 0.0147764 0.0437 NA 0.0202 0.0008 0.0153 0.04 NA 0.02 NA 0.0375 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 -1.489925 NA NA 0.053617 0.011353 NA 0.007 NA 3.865183 1274 3 189706661 189706661 C T intronic LEPREL1 NA NA NA intronic ENSG00000090530 NA NA NA NA NA 3q28 NA NA NA NA rs75374438 0.02 0.02 0.018 0.0175719 0.0388 0.001 0.0245 0.0008 0.0307 0.04 0.0017 0.04 NA 0.045 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 0.533156 NA NA 0.051279 0.010213 NA NA NA 3.864921 1274 5 82940506 82940506 G A intronic HAPLN1 NA NA NA intronic ENSG00000145681 NA NA NA NA NA 5q14.3 NA NA NA NA rs41271133 0.02 0.02 0.022 0.0179712 0.0507 0.002 0.0288 0.0008 0.0164 0.05 0.0017 0.02 0.002 0.0354 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 0.6826 NA NA 0.04907 0.009991 NA 0.022 NA 3.86483 1274 9 27290933 27290933 A G intronic EQTN NA NA NA intronic ENSG00000120160 NA NA NA NA NA 9p21.2 NA NA NA NA rs4878394 0.08 0.08 0.068 0.086861 0.1352 0.002 0.1974 0.0348 0.1166 0.13 NA 0.17 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 0.152714 NA NA NA NA NA 0.109 NA 3.8648 1274 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 1274 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 1274 8 6690276 6690276 T C exonic XKR5 NA nonsynonymous SNV XKR5:NM_207411:exon2:c.A205G:p.M69V ncRNA_exonic ENSG00000186530 NA NA NA NA NA 8p23.1 NA NA NA NA rs2741098 0.61 0.61 0.635 0.669329 0.5368 0.5516 0.513 0.9123 0.7096 0.54 0.53 0.53 0.87 0.5717 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 -0.625816 NA 0.83 0.527527 0.844976 NA 0.696 NA 3.863973 1274 15 89182596 89182596 A G UTR5 ISG20 NM_002201:c.-2A>G NA NA UTR5 ENSG00000172183 ENST00000560741:c.-2A>G,ENST00000306072:c.-2A>G,ENST00000379224:c.-2A>G,ENST00000559876:c.-2A>G NA NA NA NA 15q26.1 NA Name=Pol2-4H8,CTCF_(C-20),CTCF,Ini1,BAF155 NA NA rs3200942 0.39 0.39 0.418 0.352037 0.5109 0.2034 0.3732 0.3442 0.3374 0.51 0.24 0.43 0.35 0.4631 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.291566 1.291566 NA 0.495463 0.355909 NA 0.522 NA 3.8638704 1274 1 24394424 24394424 G A intronic MYOM3 NA NA NA ncRNA_intronic ENSG00000225315,ENSG00000230703 NA NA NA NA NA 1p36.11 NA NA NA NA rs7542151 0.21 0.21 0.245 0.278954 0.1421 0.1964 0.1599 0.4818 0.3149 0.14 0.19 0.17 0.4 0.1897 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.901504 NA NA 0.138156 0.359464 NA 0.261 NA 3.8633773 1274 14 22392639 22392639 A C intergenic OR4E2,DAD1 dist=258401;dist=641168 NA NA exonic ENSG00000211792 NA synonymous SNV ENSG00000211792:ENST00000390440:exon2:c.A162C:p.L54L NA NA 14q11.2 NA NA NA NA rs17197613 0.19 0.19 0.166 0.185703 0.2256 0.0228 0.2478 0.2859 0.1329 0.22 0.03 0.25 0.28 0.2078 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.219187 NA NA 0.203326 0.255857 NA 0.13 NA 3.863274 1274 21 33074050 33074050 A C intronic SCAF4 NA NA NA intronic ENSG00000156304 NA NA NA NA NA 21q22.11 NA NA NA NA rs73201525 0.02 0.02 0.016 0.0161741 0.0577 0.003 0.0187 0.0008 0.0061 0.06 0.0017 0.01 NA 0.0355 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 0.610849 NA NA 0.043605 0.009305 NA 0.014 NA 3.863195 1274 4 186209273 186209273 A G intronic SNX25 NA NA NA intronic ENSG00000109762 NA NA NA NA NA 4q35.1 NA NA NA NA rs11725533 0.04 0.04 0.041 0.0419329 0.0487 0.005 0.0317 0.0802 0.0286 0.05 0.0035 0.04 0.06 0.0444 0.075 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.109739 NA NA 0.043721 0.075352 NA 0.065 NA 3.863179 1274 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 1274 11 64591972 64591972 T C exonic CDC42BPG NA synonymous SNV CDC42BPG:NM_017525:exon37:c.A4629G:p.L1543L exonic ENSG00000171219 NA synonymous SNV ENSG00000171219:ENST00000342711:exon37:c.A4629G:p.L1543L NA NA 11q13.1 NA NA NA NA rs10792447 0.42 0.42 0.42 0.411542 0.6213 0.0526 0.4092 0.503 0.4438 0.63 0.06 0.46 0.47 0.526 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 -0.489524 NA NA 0.656737 0.524761 ID=COSM1355815;OCCURENCE=1(large_intestine) 0.58 NA 3.8626296 1274 12 8386863 8386863 T G ncRNA_intronic FAM86FP NA NA NA ncRNA_intronic ENSG00000164845 NA NA NA NA NA 12p13.31 NA NA NA NA rs2965690 0.76 0.76 0.707 0.72524 0.8042 0.8591 0.6945 0.556 0.7566 0.81 0.89 0.74 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 -0.361718 NA NA NA NA NA 0.051 NA 3.8624666 1274 11 95621301 95621301 T A intronic MTMR2 NA NA NA intronic ENSG00000087053 NA NA NA NA NA 11q21 NA NA NA NA rs12385798 0.09 0.09 0.086 0.116414 0.0318 0.0486 0.1499 0.2118 0.1207 0.03 0.05 0.14 0.19 0.0739 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 0.39936 NA NA 0.031875 0.172649 NA 0.08 NA 3.862425 1274 1 949654 949654 A G exonic ISG15 NA synonymous SNV ISG15:NM_005101:exon2:c.A294G:p.V98V exonic ENSG00000187608 NA synonymous SNV ENSG00000187608:ENST00000379389:exon2:c.A294G:p.V98V NA NA 1p36.33 NA Name=Pol2,SETDB1,ZNF263 NA NA rs8997 0.82 0.82 0.793 0.825679 0.9453 0.9266 0.9179 0.5083 0.9622 0.94 0.92 0.9 0.45 0.9122 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 -1.009806 NA NA 0.946964 0.573309 NA 0.761 NA 3.8622026 1274 5 1225703 1225703 A G exonic SLC6A18 NA synonymous SNV SLC6A18:NM_182632:exon1:c.A111G:p.G37G exonic ENSG00000164363 NA synonymous SNV ENSG00000164363:ENST00000296821:exon1:c.A111G:p.G37G,ENSG00000164363:ENST00000324642:exon1:c.A111G:p.G37G Score=569;Name=lod=275 NA 5p15.33 NA NA NA NA rs7724858 0.85 0.85 0.842 0.822883 0.9553 0.5972 0.8573 0.879 0.819 0.95 0.65 0.88 0.89 0.8993 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 -0.398167 NA NA 0.95 0.891285 ID=COSM149784;OCCURENCE=1(stomach) 0.928 NA 3.8620666 1274 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 1274 5 37307389 37307389 T C intronic NUP155 NA NA NA intronic ENSG00000113569 NA NA NA NA NA 5p13.2 NA NA NA NA rs74646699 0.05 0.05 0.044 0.0589058 0.0477 0.0298 0.0274 0.0802 0.0941 0.05 0.03 0.02 0.07 0.0499 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 -0.106449 NA NA 0.040581 0.0665 NA 0.036 NA 3.861819 1274 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 1274 6 33144466 33144466 C A intronic COL11A2 NA NA NA intronic ENSG00000204248 NA NA NA NA NA 6p21.32 NA NA NA NA rs41317098 0.1 0.1 0.108 0.102436 0.0388 NA 0.0346 0.3404 NA 0.04 NA 0.03 0.34 0.0569 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240655 NA NA 0.042791 0.274626 NA 0.109 NA 3.861509 1274 7 102616469 102616469 G A intronic FBXL13 NA NA NA ncRNA_intronic ENSG00000230257 NA NA NA NA NA 7q22.1 NA Name=HEY1,E2F6_(H-50) 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 1274 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 1274 19 45490428 45490428 G A intronic CLPTM1 NA NA NA intronic ENSG00000104853 NA NA NA NA NA 19q13.32 NA NA NA NA rs7257610 0.06 0.06 0.058 0.0648962 0.0398 0.0268 0.0303 0.121 0.0787 0.05 0.02 0.04 0.13 0.0529 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.286449 NA NA 0.046163 0.111212 NA 0.065 NA 3.861137 1274 20 60900579 60900579 C A exonic LAMA5 NA synonymous SNV LAMA5:NM_005560:exon41:c.G5322T:p.T1774T exonic ENSG00000130702 NA synonymous SNV ENSG00000130702:ENST00000252999:exon41:c.G5322T:p.T1774T NA NA 20q13.33 NA Name=Pol2 NA NA rs2427285 0.92 0.92 0.914 0.89397 0.9364 0.9802 0.9568 0.8169 0.8211 0.93 0.98 0.95 0.82 0.9186 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 0.194177 NA NA 0.950558 0.847027 NA 0.833 NA 3.8611086 1274 1 16374533 16374533 G C exonic CLCNKB NA synonymous SNV CLCNKB:NM_000085:exon5:c.G492C:p.G164G exonic ENSG00000184908 NA synonymous SNV ENSG00000184908:ENST00000375679:exon5:c.G492C:p.G164G Score=489;Name=lod=129 NA 1p36.13 NA NA NA NA rs2014562 0.91 0.91 0.918 0.89397 0.9394 0.999 0.9337 0.7231 0.9417 0.95 1 0.93 0.76 0.9298 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581981 NA NA 0.936395 0.76532 NA 0.819 NA 3.8610716 1274 9 126137676 126137676 G A intronic CRB2 NA NA NA intronic ENSG00000148204 NA NA NA NA NA 9q33.3 NA NA NA NA rs4838053 0.23 0.23 0.219 0.252596 0.1392 0.4127 0.2147 0.1604 0.3558 0.13 0.43 0.22 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 0.127076 NA NA NA NA NA 0.21 NA 3.8608 1274 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 1274 7 150767184 150767184 G A intronic SLC4A2 NA NA NA intronic ENSG00000164889 NA NA NA NA NA 7q36.1 NA NA NA NA rs35859353 0.05 0.05 0.075 0.0583067 0.0467 NA 0.0346 0.1399 0.0368 0.05 NA 0.04 0.13 0.045 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057857 NA NA 0.047558 0.100545 NA 0.072 NA 3.860742 1274 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 1274 11 66833327 66833327 G A intronic RHOD NA NA NA intronic ENSG00000173156 NA NA NA NA NA 11q13.2 NA NA Name=3 NA rs12287978 0.38 0.38 0.35 0.4373 0.3638 0.4534 0.5303 0.3555 0.5409 0.35 0.44 0.46 0.29 0.4111 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114862 NA NA 0.365308 0.333182 NA 0.42 NA 3.859792 1274 11 104869582 104869582 A C intronic CASP5 NA NA NA intronic ENSG00000137757 NA NA NA NA NA 11q22.3 NA NA NA NA rs45504692 0.02 0.02 0.023 0.0429313 0.0447 0.0069 0.0245 0.0106 0.135 0.04 0.01 0.03 0.01 0.0469 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 -1.027681 NA NA 0.048616 0.014532 NA 0.029 NA 3.859784 1274 1 39812822 39812822 C A intronic MACF1 NA NA NA exonic ENSG00000127603 NA synonymous SNV ENSG00000127603:ENST00000289893:exon5:c.C6075A:p.A2025A,ENSG00000127603:ENST00000372915:exon40:c.C10770A:p.A3590A,ENSG00000127603:ENST00000564288:exon41:c.C10755A:p.A3585A,ENSG00000127603:ENST00000567887:exon41:c.C10866A:p.A3622A NA NA 1p34.3 Score=833;Name=V$GR_Q6 NA Name=5 NA rs2761764 0.96 0.96 0.953 0.954273 0.996 0.9405 0.9827 0.888 0.9949 1 0.95 0.98 0.88 0.9836 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.113309 NA NA 0.993953 0.903768 NA 0.942 NA 3.8597803 1274 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 1274 2 219296545 219296545 G A intronic VIL1 NA NA NA intronic ENSG00000127831 NA NA NA NA NA 2q35 Score=931;Name=V$TGIF_01 NA NA NA rs17572485 0.28 0.28 0.28 0.267971 0.3767 0.0962 0.3501 0.2776 0.2618 0.37 0.1 0.33 0.3 0.3802 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.104346 NA NA 0.383953 0.300726 NA 0.399 NA 3.859147 1274 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 1274 6 76405700 76405700 A G intronic SENP6 NA NA NA intronic ENSG00000112701 NA NA NA NA NA 6q14.1 NA NA NA NA rs7755068 0.2 0.2 0.209 0.242412 0.1412 0.2391 0.1282 0.3548 0.2791 0.15 0.2 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 -0.009429 NA NA NA NA NA 0.225 NA 3.8588 1274 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 1274 4 156787340 156787340 G A exonic ASIC5 NA synonymous SNV ASIC5:NM_017419:exon1:c.C39T:p.N13N exonic ENSG00000256394 NA synonymous SNV ENSG00000256394:ENST00000537611:exon1:c.C39T:p.N13N Score=321;Name=lod=27 NA 4q32.1 NA NA NA NA rs6848883 0.86 0.86 0.842 0.848442 0.9473 0.9643 0.915 0.5726 0.953 0.96 0.95 0.93 0.58 0.9165 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 -0.051969 NA NA 0.944522 0.626192 ID=COSM1131206;OCCURENCE=1(prostate) 0.797 NA 3.8583446 1274 2 69053115 69053115 G T intronic ARHGAP25 NA NA NA intronic ENSG00000163219 NA NA NA NA NA 2p13.3 NA NA NA NA rs41285953 0.05 0.05 0.05 0.0658946 0.0437 0.0188 0.0331 0.1316 0.0716 0.04 0.03 0.05 0.1 0.0535 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 0.704611 NA NA 0.044767 0.112801 NA 0.051 NA 3.858033 1274 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 1274 18 55317591 55317591 C A intronic ATP8B1,LOC100505549 NA NA NA ncRNA_intronic ENSG00000267040,ENSG00000267787 NA NA NA NA NA 18q21.31 NA NA NA NA rs34027711 0.08 0.08 0.061 0.0854633 0.161 0.0089 0.1599 0.0113 0.1339 0.15 0.01 0.12 0.02 0.1404 0.17 NA NA 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 0.174535 0.037449 NA 0.08 NA 3.8573983 1274 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 1274 2 242793273 242793273 A G exonic PDCD1 NA synonymous SNV PDCD1:NM_005018:exon5:c.T804C:p.A268A exonic ENSG00000188389 NA synonymous SNV ENSG00000188389:ENST00000334409:exon5:c.T804C:p.A268A NA NA 2q37.3 NA NA NA NA rs2227981 0.62 0.62 0.588 0.647963 0.5984 0.7321 0.6282 0.5499 0.7587 0.6 0.72 0.62 0.54 0.6284 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.154702 NA NA 0.583159 0.592601 NA 0.58 NA 3.8567076 1274 11 86111700 86111700 A T intronic CCDC81 NA NA NA intronic ENSG00000149201 NA NA NA NA NA 11q14.2 NA NA Name=2 NA rs12272824 0.31 0.31 0.303 0.330871 0.3897 0.2718 0.4035 0.2534 0.3845 0.37 0.23 0.4 0.26 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 -0.884431 NA NA 0.392649 0.266576 ID=COSN164015;OCCURENCE=1(breast) 0.428 NA 3.856651 1274 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 1274 1 36927733 36927733 G A exonic MRPS15 NA synonymous SNV MRPS15:NM_031280:exon3:c.C207T:p.P69P exonic ENSG00000116898 NA synonymous SNV ENSG00000116898:ENST00000373116:exon3:c.C207T:p.P69P Score=381;Name=lod=47 NA 1p34.3 NA NA NA NA rs7065 0.97 0.97 0.966 0.978634 0.9334 1 0.9784 0.9932 0.9836 0.92 1 0.99 0.99 0.9479 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.71866 NA NA 0.928953 0.983432 NA 0.804 NA 3.8564136 1274 3 132235344 132235344 A T intronic DNAJC13 NA NA NA intronic ENSG00000138246 NA NA NA NA NA 3q22.1 NA NA NA NA rs80120242 0.02 0.02 0.026 0.0249601 0.0507 0.002 0.0202 0.0038 0.0542 0.05 0.0017 0.02 0.0041 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 2.370703 2.370703 NA 0.048605 0.010667 NA 0.022 NA 3.856295 1274 16 313202 313202 C A intronic ITFG3 NA NA NA intronic ENSG00000167930,ENSG00000269881 NA NA NA NA NA 16p13.3 NA NA NA NA rs2239738 0.29 0.29 0.307 0.290136 0.1441 0.3214 0.2709 0.4849 0.1585 0.14 0.35 0.24 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 -0.107694 NA NA NA NA NA 0.261 NA 3.8559 1274 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 1274 9 130489558 130489558 A G exonic TTC16 NA synonymous SNV TTC16:NM_144965:exon12:c.A1578G:p.K526K exonic ENSG00000167094 NA synonymous SNV ENSG00000167094:ENST00000373289:exon12:c.A1578G:p.K526K NA NA 9q34.11 NA NA NA NA rs472144 0.59 0.59 0.578 0.61861 0.6173 0.3661 0.6037 0.7844 0.6667 0.63 0.38 0.6 0.78 0.6114 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 -0.191329 NA NA 0.582228 0.739673 ID=COSM455375;OCCURENCE=1(breast) 0.696 NA 3.8557386 1274 2 238261113 238261113 C A intronic COL6A3 NA NA NA intronic ENSG00000163359 NA NA NA NA NA 2q37.3 NA NA Name=22 NA rs4663727 0.5 0.5 0.555 0.555711 0.5915 0.6647 0.5504 0.5234 0.454 0.49 0.6 0.48 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 0.077726 NA NA 0.553462 0.480867 NA NA NA 3.855038 1275 3 14526538 14526538 G A UTR3 SLC6A6 NM_003043:c.*23G>A,NM_001134367:c.*23G>A NA NA UTR3 ENSG00000131389 ENST00000458124:c.*681G>A,ENST00000454876:c.*23G>A,ENST00000360861:c.*23G>A NA NA Score=601;Name=lod=371 NA 3p25.1 NA NA NA NA rs1062540 0.31 0.31 0.255 0.242212 0.5567 0.129 0.389 0.0545 0.1851 0.54 0.14 0.4 0.07 0.4199 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.769513 1.769513 NA 0.501977 0.125511 NA 0.355 NA 3.8547564 1275 7 14216442 14216442 A G UTR3 DGKB NM_145695:c.*7T>C NA NA UTR3 ENSG00000136267 ENST00000406247:c.*7T>C NA NA NA NA 7p21.2 NA NA NA NA rs17167945 0.19 0.19 0.185 0.197684 0.173 0.002 0.134 0.4864 0.0798 0.18 0.0017 0.16 0.43 0.1528 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.401182 NA NA 0.153029 0.419271 NA 0.138 NA 3.8545044 1275 3 58095466 58095466 G T intronic FLNB NA NA NA intronic ENSG00000136068 NA NA NA NA NA 3p14.3 NA NA Name=5 NA rs2708318 0.65 0.65 0.643 0.698482 0.3439 0.9742 0.5821 0.8495 0.6575 0.35 0.97 0.52 0.83 0.4743 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 0.903022 NA NA 0.327326 0.76759 NA 0.587 NA 3.854474 1275 9 130493513 130493513 A G exonic TTC16 NA synonymous SNV TTC16:NM_144965:exon14:c.A2451G:p.K817K exonic ENSG00000167094 NA synonymous SNV ENSG00000167094:ENST00000373289:exon14:c.A2451G:p.K817K NA NA 9q34.11 NA NA NA NA rs482095 0.59 0.59 0.583 0.620208 0.6173 0.369 0.6081 0.7859 0.6667 0.63 0.38 0.61 0.78 0.6119 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 0.068213 NA NA 0.58314 0.741826 NA 0.696 NA 3.8543266 1275 3 42735274 42735274 A G exonic HHATL NA synonymous SNV HHATL:NM_020707:exon10:c.T1083C:p.A361A exonic ENSG00000010282 NA synonymous SNV ENSG00000010282:ENST00000441594:exon10:c.T1083C:p.A361A,ENSG00000010282:ENST00000310417:exon11:c.T1083C:p.A361A NA NA 3p22.1 NA NA NA NA rs339697 0.68 0.68 0.661 0.700479 0.5954 0.7133 0.6888 0.8525 0.5982 0.59 0.69 0.66 0.84 0.6251 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 -1.296751 NA NA 0.592442 0.796641 NA 0.674 NA 3.8537246 1275 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 1275 14 51289874 51289874 G T intronic NIN NA NA NA ncRNA_intronic ENSG00000258843 NA NA NA NA NA 14q22.1 NA Name=YY1_(C-20),YY1,EBF 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 1275 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 1275 19 8999101 8999101 G A intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs77609006 0.03 0.03 0.027 0.0171725 0.0626 0.001 0.0231 0.0038 0.001 0.08 0.0017 0.02 0.01 0.0359 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 -0.916324 NA NA 0.048636 0.008205 NA 0.022 NA 3.852864 1275 15 69732736 69732736 C T exonic KIF23 NA synonymous SNV KIF23:NM_004856:exon17:c.C1977T:p.T659T,KIF23:NM_138555:exon17:c.C1977T:p.T659T exonic ENSG00000137807 NA synonymous SNV ENSG00000137807:ENST00000537891:exon12:c.C1428T:p.T476T,ENSG00000137807:ENST00000558585:exon13:c.C1428T:p.T476T,ENSG00000137807:ENST00000260363:exon17:c.C1977T:p.T659T,ENSG00000137807:ENST00000352331:exon17:c.C1977T:p.T659T,ENSG00000137807:ENST00000395392:exon17:c.C1977T:p.T659T,ENSG00000137807:ENST00000559279:exon17:c.C1977T:p.T659T Score=636;Name=lod=512 NA 15q23 NA NA NA NA rs937724 0.78 0.78 0.771 0.766773 0.9553 0.6786 0.8127 0.5371 0.9417 0.95 0.69 0.84 0.59 0.8905 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 0.232707 NA NA 0.968125 0.613688 NA 0.797 NA 3.8527416 1275 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 1275 8 17612456 17612456 C T exonic MTUS1 NA synonymous SNV MTUS1:NM_001001924:exon2:c.G861A:p.K287K,MTUS1:NM_001001925:exon2:c.G861A:p.K287K exonic ENSG00000129422 NA synonymous SNV ENSG00000129422:ENST00000519263:exon1:c.G861A:p.K287K,ENSG00000129422:ENST00000262102:exon2:c.G861A:p.K287K,ENSG00000129422:ENST00000381862:exon2:c.G861A:p.K287K,ENSG00000129422:ENST00000381869:exon2:c.G861A:p.K287K Score=349;Name=lod=35 NA 8p22 NA NA NA NA rs11203910 0.86 0.86 0.82 0.858227 0.9523 0.8075 0.9395 0.7421 0.9131 0.96 0.8 0.95 0.72 0.9224 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 -0.884943 NA NA 0.939595 0.775267 NA 0.884 NA 3.8523716 1275 12 101683929 101683929 C T exonic UTP20 NA synonymous SNV UTP20:NM_014503:exon7:c.C612T:p.N204N exonic ENSG00000120800 NA synonymous SNV ENSG00000120800:ENST00000261637:exon7:c.C612T:p.N204N NA NA 12q23.2 NA NA NA NA rs703715 0.65 0.65 0.658 0.666733 0.6074 0.5982 0.5836 0.8533 0.6053 0.61 0.58 0.59 0.81 0.6079 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 -0.272449 NA NA 0.59907 0.824478 NA 0.717 NA 3.8522966 1275 X 154774707 154774707 C T intronic TMLHE NA NA NA ncRNA_intronic ENSG00000224533 NA NA NA NA NA Xq28 NA NA Name=23 NA rs2305518 0.67 0.67 0.67568 NA NA NA NA NA NA 0.79 0.76 0.62 0.41 0.7163 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 -1.115208 NA NA 0.764995 0.435837 NA 0.493 NA 3.8520383 1275 11 63278621 63278621 C G ncRNA_intronic MIR3680-1,MIR3680-2 NA NA NA intronic ENSG00000133317 NA NA NA NA NA 11q12.3 NA NA Name=37 NA rs2239679 0.33 0.33 0.29 0.302316 0.5139 0.1825 0.4337 0.0719 0.4264 0.54 0.21 0.44 0.08 0.4595 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184106 NA NA 0.507911 0.154248 NA 0.341 NA 3.8520223 1275 5 156766273 156766273 G A intronic CYFIP2 NA NA NA intronic ENSG00000055163 NA NA NA NA NA 5q33.3 Score=912;Name=V$NFKAPPAB50_01 NA NA NA rs3734028 0.43 0.43 0.47 0.466254 0.3757 0.3065 0.3069 0.7958 0.3916 0.38 0.28 0.29 0.77 0.3976 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 0.669241 NA NA 0.37497 0.688406 NA 0.449 NA 3.85173 1275 12 71531889 71531889 T C intronic TSPAN8 NA NA NA intronic ENSG00000127324 NA NA NA NA NA 12q21.1 NA Name=Rad21,CTCF 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 1275 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 1275 1 179012947 179012947 C G UTR5 FAM20B NM_014864:c.-36C>G NA NA UTR5 ENSG00000116199 ENST00000440702:c.-36C>G,ENST00000263733:c.-36C>G NA NA NA NA 1q25.2 NA NA NA NA rs72707294 0.17 0.17 0.16 0.13758 0.17 0.3036 0.0764 0.0575 0.0849 0.17 0.32 0.1 0.05 0.1538 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.24346 NA NA 0.158256 0.083296 NA 0.138 NA 3.8512774 1275 6 170169819 170169819 A G intronic C6orf70 NA NA NA intronic ENSG00000130023 NA NA NA NA NA 6q27 NA NA NA NA rs17860640 0.1 0.1 0.082 0.115815 0.0378 0.1726 0.1268 0.1067 0.1421 0.04 0.16 0.11 0.09 0.0806 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.001474 NA NA 0.030349 0.112801 NA 0.094 NA 3.851251 1275 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 1275 15 58471368 58471368 C T exonic AQP9 NA synonymous SNV AQP9:NM_020980:exon5:c.C537T:p.I179I exonic ENSG00000103569 NA synonymous SNV ENSG00000103569:ENST00000219919:exon5:c.C537T:p.I179I,ENSG00000103569:ENST00000536493:exon5:c.C537T:p.I179I,ENSG00000103569:ENST00000558772:exon5:c.C342T:p.I114I Score=489;Name=lod=129 NA 15q21.3 NA NA NA NA rs2249783 0.87 0.87 0.847 0.836462 0.9463 0.8075 0.9207 0.708 0.8671 0.95 0.83 0.94 0.73 0.9121 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 0.288933 NA NA 0.957479 0.789005 NA 0.746 NA 3.8507876 1275 6 130152479 130152479 T C exonic TMEM244 NA synonymous SNV TMEM244:NM_001010876:exon5:c.A372G:p.S124S exonic ENSG00000203756 NA synonymous SNV ENSG00000203756:ENST00000368143:exon5:c.A372G:p.S124S,ENSG00000203756:ENST00000438392:exon6:c.A372G:p.S124S NA NA 6q22.33 NA NA NA NA rs7758540 0.46 0.46 0.482 0.459465 0.6193 0.1399 0.3934 0.6074 0.4714 0.61 0.13 0.44 0.62 0.5499 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632698 NA NA 0.64686 0.614616 NA 0.594 NA 3.8506066 1275 12 93251311 93251311 C T intronic EEA1 NA NA NA intronic ENSG00000102189 NA NA NA NA NA 12q22 NA NA NA NA rs114169104 0.04 0.04 0.038 0.0369409 0.0467 NA 0.0346 0.0575 0.0389 0.04 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 -0.400136 NA NA 0.060913 0.061308 NA 0.043 NA 3.850387 1275 10 70253350 70253350 G A intronic SLC25A16 NA NA NA intronic ENSG00000122912 NA NA NA NA NA 10q21.3 NA NA NA NA rs41278516 0.07 0.07 0.062 0.0864617 0.0447 0.0179 0.0764 0.1611 0.1063 0.05 0.01 0.07 0.16 0.0589 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059758 NA NA 0.046163 0.134362 NA 0.08 NA 3.850237 1275 11 61543499 61543499 T C intronic MYRF NA NA NA intronic ENSG00000124920 NA NA NA NA NA 11q12.2 NA Name=CTCF NA NA rs174528 0.45 0.45 0.375 0.433906 0.3877 0.5724 0.6354 0.4516 0.1718 0.39 0.42 0.6 0.46 0.4017 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.279174 1.279174 NA 0.360782 0.466394 NA 0.442 NA 3.849818 1275 1 247921352 247921352 C T exonic OR1C1 NA synonymous SNV OR1C1:NM_012353:exon1:c.G357A:p.A119A exonic ENSG00000221888 NA synonymous SNV ENSG00000221888:ENST00000408896:exon1:c.G357A:p.A119A Score=508;Name=lod=155 NA 1q44 NA NA NA NA rs1552813 0.87 0.87 0.858 0.84405 0.9573 0.9851 0.9236 0.5825 0.8793 0.96 0.98 0.92 0.58 0.9195 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 0.280932 NA NA 0.940485 0.634817 NA 0.833 NA 3.8493816 1275 4 146042445 146042445 G C intronic ABCE1 NA NA NA intronic ENSG00000164163 NA NA NA NA NA 4q31.21 NA NA NA NA rs10519725 0.03 0.03 0.019 0.0191693 0.0497 0.001 0.0519 0.0008 0.0082 0.05 0.0017 0.05 NA 0.041 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 -0.499316 NA NA 0.06 0.012483 NA 0.007 NA 3.8493 1275 22 47274638 47274638 C T intronic TBC1D22A NA NA NA intronic ENSG00000054611 NA NA NA NA NA 22q13.31 NA Name=CTCF Name=24 NA rs131869 0.57 0.57 0.555 0.509385 0.7654 0.5675 0.6369 0.2005 0.5133 0.76 0.59 0.65 0.22 0.6479 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 1.25595 1.25595 NA 0.737608 0.296229 NA 0.529 NA 3.849092 1275 1 12250979 12250979 C T intronic TNFRSF1B NA NA NA intronic ENSG00000028137 NA NA NA NA NA 1p36.22 NA NA NA NA rs5746016 0.03 0.03 0.023 0.0277556 0.0557 0.001 0.0288 0.0189 0.0378 0.06 0.0017 0.04 0.02 0.045 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 -0.131795 NA NA 0.050233 0.026555 NA 0.022 NA 3.849067 1275 9 134387488 134387488 T C exonic POMT1 NA synonymous SNV POMT1:NM_001136114:exon9:c.T696C:p.D232D,POMT1:NM_001077366:exon10:c.T885C:p.D295D,POMT1:NM_001077365:exon11:c.T1047C:p.D349D,POMT1:NM_001136113:exon11:c.T1047C:p.D349D,POMT1:NM_007171:exon11:c.T1113C:p.D371D exonic ENSG00000130714 NA synonymous SNV ENSG00000130714:ENST00000541219:exon5:c.T381C:p.D127D,ENSG00000130714:ENST00000415075:exon8:c.T444C:p.D148D,ENSG00000130714:ENST00000419118:exon8:c.T591C:p.D197D,ENSG00000130714:ENST00000404875:exon9:c.T696C:p.D232D,ENSG00000130714:ENST00000441334:exon9:c.T762C:p.D254D,ENSG00000130714:ENST00000341012:exon10:c.T885C:p.D295D,ENSG00000130714:ENST00000354713:exon10:c.T957C:p.D319D,ENSG00000130714:ENST00000372228:exon11:c.T1113C:p.D371D,ENSG00000130714:ENST00000402686:exon11:c.T1047C:p.D349D,ENSG00000130714:ENST00000423007:exon11:c.T1047C:p.D349D Score=612;Name=lod=409 NA 9q34.13 NA NA NA NA rs3739494 0.87 0.87 0.856 0.870807 0.9423 0.9246 0.8343 0.7179 0.9744 0.94 0.92 0.86 0.71 0.9232 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 1.075752 NA NA 0.952209 0.740581 NA 0.928 NA 3.8489576 1275 6 33647936 33647936 C T intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs111990331 0.1 0.1 0.13 0.114018 0.0447 0.003 0.0447 0.3631 0.0123 0.03 0.0017 0.04 0.38 0.0594 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.64136 NA NA 0.047104 0.305266 NA 0.109 NA 3.848796 1275 1 205689807 205689807 T G intronic NUCKS1 NA NA NA intronic ENSG00000069275 NA NA NA NA Name=Pubertal anthropometrics 1q32.1 NA NA NA NA rs823094 0.25 0.25 0.226 0.194888 0.4095 0.004 0.2594 0.1959 0.1237 0.42 0.0035 0.33 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 0.697435 NA NA 0.416279 0.245347 NA 0.348 NA 3.848421 1275 12 55820121 55820121 C T exonic OR6C76 NA synonymous SNV OR6C76:NM_001005183:exon1:c.C84T:p.F28F exonic ENSG00000185821 NA synonymous SNV ENSG00000185821:ENST00000328314:exon1:c.C84T:p.F28F NA NA 12q13.2 NA NA NA NA rs6581046 0.71 0.71 0.688 0.712859 0.5915 0.8919 0.6744 0.7443 0.638 0.58 0.91 0.66 0.72 0.636 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 -0.223134 NA NA 0.59093 0.72197 NA 0.688 NA 3.8482366 1275 10 72358577 72358577 G A exonic PRF1 NA synonymous SNV PRF1:NM_001083116:exon3:c.C900T:p.H300H,PRF1:NM_005041:exon3:c.C900T:p.H300H exonic ENSG00000180644 NA synonymous SNV ENSG00000180644:ENST00000373209:exon3:c.C900T:p.H300H,ENSG00000180644:ENST00000441259:exon3:c.C900T:p.H300H NA NA 10q22.1 NA NA NA NA rs885822 0.69 0.69 0.669 0.695887 0.5885 0.7341 0.6427 0.8381 0.6125 0.6 0.73 0.63 0.83 0.6357 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 -1.26988 NA NA 0.594302 0.795279 NA 0.739 NA 3.8481646 1275 1 92174260 92174260 A G exonic TGFBR3 NA synonymous SNV TGFBR3:NM_001195683:exon14:c.T2244C:p.T748T,TGFBR3:NM_003243:exon14:c.T2247C:p.T749T,TGFBR3:NM_001195684:exon15:c.T2244C:p.T748T exonic ENSG00000069702 NA synonymous SNV ENSG00000069702:ENST00000525962:exon13:c.T2247C:p.T749T,ENSG00000069702:ENST00000212355:exon14:c.T2247C:p.T749T,ENSG00000069702:ENST00000465892:exon14:c.T2244C:p.T748T,ENSG00000069702:ENST00000370399:exon15:c.T2244C:p.T748T Score=435;Name=lod=78 NA 1p22.1 NA NA NA NA rs284878 0.91 0.91 0.906 0.906749 0.9433 0.7351 0.9712 0.9418 0.953 0.95 0.78 0.96 0.95 0.9337 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 1.541839 1.541839 NA 0.941512 0.935315 NA 0.964 NA 3.8481546 1275 19 2223275 2223275 C T intronic DOT1L NA NA NA intronic ENSG00000104885 NA NA NA NA NA 19p13.3 NA NA NA NA rs75613123 0.06 0.06 0.035 0.0605032 0.0517 0.127 0.0706 0.0106 0.0613 0.05 0.13 0.06 0.01 0.0572 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.494536 1.494536 NA 0.042994 0.022806 NA 0.014 NA 3.848106 1275 11 66458676 66458676 T C intronic SPTBN2 NA NA NA intronic ENSG00000173898 NA NA NA NA NA 11q13.2 NA NA NA NA rs76228630 0.07 0.07 0.063 0.0788738 0.1521 0.0208 0.0793 0.0106 0.1554 0.15 0.01 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 -0.046813 NA NA NA NA NA 0.051 NA 3.8479 1275 6 90583380 90583380 T A intronic CASP8AP2 NA NA NA ncRNA_intronic ENSG00000118412 NA NA NA NA NA 6q15 NA NA NA NA rs10944458 0.12 0.12 0.094 0.107428 0.165 0.002 0.0951 0.1513 0.1063 0.16 0.0017 0.11 0.2 0.1476 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33258 NA NA 0.172878 0.139911 NA 0.094 NA 3.8478553 1275 3 25502851 25502851 G A intronic RARB NA NA NA intronic ENSG00000077092 NA NA NA NA NA 3p24.2 NA NA NA NA rs77748152 0.06 0.06 0.034 0.0642971 0.0507 0.0615 0.1311 0.0038 0.1155 0.05 0.06 0.13 0.0041 0.0649 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.432913 NA NA 0.036744 0.012256 NA 0.007 NA 3.847656 1275 21 47557118 47557118 G A intronic FTCD NA NA NA intronic ENSG00000160282 NA NA NA NA NA 21q22.3 NA NA NA NA rs78520472 0.02 0.02 0.025 0.0173722 0.0596 NA 0.0259 0.0015 0.0072 0.05 NA 0.03 0.002 0.0358 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 -0.723044 NA NA 0.057209 0.01044 NA 0.007 NA 3.847391 1275 2 15770061 15770061 G A intronic DDX1 NA NA NA intronic ENSG00000079785 NA NA NA NA NA 2p24.3 NA NA NA NA rs2302937 0.25 0.25 0.252 0.290535 0.1531 0.1915 0.219 0.503 0.2975 0.15 0.2 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 -0.047815 NA NA NA NA NA 0.283 NA 3.8469 1275 X 14868806 14868806 A G intronic FANCB NA NA NA intronic ENSG00000181544 NA NA NA NA NA Xp22.2 NA NA NA NA rs2905223 0.45 0.45 0.44277 NA NA NA NA NA NA 0.63 0.18 0.5 0.45 0.5638 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.000458 NA NA 0.589323 0.491756 NA 0.355 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079364.1;CLNDSDB=.;CLNDSDBID=. 3.846877 1275 7 149528392 149528392 C T intronic SSPO NA NA NA ncRNA_intronic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs10262226 0.17 0.17 0.155 0.176717 0.1511 0.1736 0.1945 0.1573 0.2198 0.15 0.19 0.21 0.15 0.1722 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856945 NA NA 0.163238 0.155035 NA 0.138 NA 3.8467953 1275 14 96953412 96953412 A T intronic AK7 NA NA NA intronic ENSG00000140057 NA NA NA NA NA 14q32.2 NA NA NA NA rs80304258 0.06 0.06 0.032 0.0555112 0.0586 0.0575 0.0793 0.0348 0.0613 0.06 0.07 0.09 0.03 0.0559 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 0.048885 NA NA 0.038953 0.029959 NA 0.036 NA 3.846547 1275 1 7737651 7737651 G A intronic CAMTA1 NA NA NA intronic ENSG00000171735 NA NA NA NA NA 1p36.23 NA NA NA NA rs41278946 0.03 0.03 0.026 0.0231629 0.0527 NA 0.0216 0.0174 0.0256 0.05 NA 0.03 0.02 0.0434 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 1.051876 NA NA 0.057558 0.023604 NA 0.007 NA 3.846342 1275 9 18928039 18928039 A G UTR3 FAM154A NM_153707:c.*11T>C NA NA UTR3 ENSG00000155875 ENST00000380534:c.*11T>C,ENST00000542071:c.*11T>C,ENST00000380530:c.*1011T>C NA NA NA NA 9p22.1 NA NA NA NA rs1052448 0.14 0.14 0.123 0.123003 0.164 0.2292 0.1369 0.0083 0.1166 0.16 0.23 0.13 0.01 0.1608 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980537 NA NA 0.162209 0.036541 NA 0.138 NA 3.8463244 1275 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 1275 14 78177115 78177115 T C intronic SLIRP NA NA NA intronic ENSG00000119705 NA NA NA NA NA 14q24.3 NA NA NA NA rs76566741 0.04 0.04 0.041 0.0277556 0.0855 NA 0.0519 0.0038 0.0123 0.08 NA 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 -0.764174 NA NA 0.06851 0.011561 NA 0.022 NA 3.84599 1275 3 124692689 124692689 C T exonic HEG1 NA synonymous SNV HEG1:NM_020733:exon16:c.G3882A:p.P1294P exonic ENSG00000173706 NA synonymous SNV ENSG00000173706:ENST00000482699:exon1:c.G63A:p.P21P,ENSG00000173706:ENST00000487661:exon6:c.G534A:p.P178P,ENSG00000173706:ENST00000311127:exon16:c.G3882A:p.P1294P NA NA 3q21.2 NA NA NA NA rs2270778 0.7 0.7 0.725 0.704473 0.6034 0.7827 0.5994 0.8759 0.5706 0.59 0.77 0.6 0.88 0.6209 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 0.737824 NA NA 0.596778 0.831063 NA 0.826 NA 3.8455886 1275 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 1275 12 48132889 48132889 G A intronic RAPGEF3 NA NA NA ncRNA_intronic ENSG00000257433 NA NA NA NA NA 12q13.11 NA NA NA NA rs2074535 0.19 0.19 0.179 0.189297 0.1521 0.3869 0.1009 0.1036 0.2025 0.16 0.34 0.1 0.11 0.1796 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.336012 NA NA 0.156395 0.125511 NA 0.116 NA 3.8452383 1275 14 31077080 31077080 A G intronic G2E3 NA NA NA intronic ENSG00000092140 NA NA NA NA NA 14q12 NA NA NA NA rs229229 0.08 0.08 0.079 0.0940495 0.0398 0.0714 0.0807 0.1664 0.0849 0.04 0.09 0.06 0.15 0.0813 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.386933 2.386933 NA 0.033737 0.127103 NA 0.043 NA 3.845163 1275 14 92559678 92559678 G C intronic ATXN3 NA NA NA intronic ENSG00000066427 NA NA NA NA NA 14q32.12 NA Name=CTCF NA NA rs4904834 0.45 0.45 0.513 0.495008 0.338 0.5298 0.2421 0.708 0.5123 0.33 0.53 0.23 0.71 0.4426 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.509664 NA NA 0.374241 0.619091 NA 0.428 NA 3.845159 1275 17 10415840 10415840 A G exonic MYH1 NA synonymous SNV MYH1:NM_005963:exon12:c.T1032C:p.F344F exonic ENSG00000109061 NA synonymous SNV ENSG00000109061:ENST00000226207:exon12:c.T1032C:p.F344F Score=460;Name=lod=99 NA 17p13.1 NA NA NA NA rs2007027 0.9 0.9 0.875 0.88139 0.9453 0.998 0.9352 0.6815 0.9274 0.95 1 0.93 0.68 0.9288 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.16665 NA NA 0.947558 0.736042 NA 0.92 NA 3.8450086 1276 20 3176072 3176072 C T intronic DDRGK1 NA NA NA intronic ENSG00000198171 NA NA NA NA NA 20p13 NA NA NA NA rs7263489 0.21 0.21 0.217 0.216454 0.1551 0.2212 0.0821 0.382 0.1462 0.16 0.2 0.11 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 0.572578 NA NA NA NA NA 0.29 NA 3.8449 1276 7 45688233 45688233 G A intronic ADCY1 NA NA NA intronic ENSG00000164742 NA NA NA NA NA 7p12.3 NA NA NA NA rs3735672 0.11 0.11 0.099 0.111022 0.0487 0.1558 0.0634 0.1626 0.093 0.05 0.17 0.06 0.15 0.0681 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822866 NA NA 0.038605 0.138901 NA 0.116 NA 3.844595 1276 7 142247134 142247134 T C intergenic LOC730441,MTRNR2L6 dist=275066;dist=126997 NA NA exonic ENSG00000211714 NA nonsynonymous SNV ENSG00000211714:ENST00000390361:exon2:c.A322G:p.M108V NA NA 7q34 NA Name=STAT3,Pol2 Name=87 NA rs361363 0.96 0.96 0.965 0.969449 1 0.9315 0.9957 0.9418 0.9959 0.99 0.92 1 0.92 0.9891 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.571984 NA 1 0.999642 0.955067 NA 0.797 NA 3.8445914 1276 19 10087886 10087886 A G intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs114827216 0.04 0.04 0.047 0.0295527 0.0616 NA 0.0245 0.0454 0.0092 0.06 NA 0.04 0.07 0.0392 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 -1.031879 NA NA 0.055233 0.046981 NA 0.022 NA 3.843967 1276 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 1276 1 22173990 22173990 A G intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs35917892 0.02 0.02 0.015 0.0347444 0.0487 NA 0.0245 0.0015 0.1084 0.05 NA 0.03 0.0041 0.0505 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 -0.548297 NA NA 0.057093 0.009305 NA 0.022 NA 3.843707 1276 11 63064823 63064823 T C exonic SLC22A10 NA synonymous SNV SLC22A10:NM_001039752:exon3:c.T555C:p.I185I exonic ENSG00000184999 NA synonymous SNV ENSG00000184999:ENST00000332793:exon3:c.T555C:p.I185I,ENSG00000184999:ENST00000533483:exon4:c.T399C:p.I133I,ENSG00000184999:ENST00000544661:exon4:c.T90C:p.I30I NA NA 11q12.3 NA NA NA NA rs576641 0.59 0.59 0.567 0.559305 0.6064 0.4692 0.5677 0.6551 0.4683 0.63 0.42 0.64 0.67 0.5853 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 0.133697 NA NA 0.631548 0.651975 NA 0.565 NA 3.8434186 1276 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 1276 13 33703656 33703656 T C exonic STARD13 NA synonymous SNV STARD13:NM_001243466:exon5:c.A1134G:p.E378E,STARD13:NM_001243474:exon5:c.A804G:p.E268E,STARD13:NM_052851:exon5:c.A804G:p.E268E,STARD13:NM_178006:exon5:c.A1158G:p.E386E,STARD13:NM_178007:exon5:c.A1134G:p.E378E,STARD13:NM_001243476:exon9:c.A1053G:p.E351E exonic ENSG00000133121 NA synonymous SNV ENSG00000133121:ENST00000255486:exon5:c.A1134G:p.E378E,ENSG00000133121:ENST00000336934:exon5:c.A1158G:p.E386E,ENSG00000133121:ENST00000399365:exon5:c.A804G:p.E268E,ENSG00000133121:ENST00000567873:exon5:c.A1113G:p.E371E NA NA 13q13.1 NA NA NA NA rs495680 0.54 0.54 0.526 0.515575 0.6103 0.5407 0.621 0.3275 0.5716 0.61 0.55 0.59 0.38 0.5858 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.922573 NA NA 0.627326 0.383114 NA 0.478 NA 3.8432406 1276 1 22175096 22175096 T C intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs34726153 0.02 0.02 0.017 0.0349441 0.0487 NA 0.0245 0.0023 0.1084 0.05 NA 0.03 0.01 0.0508 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 -0.310162 NA NA 0.057442 0.009079 NA 0.022 NA 3.843058 1276 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 1276 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 1276 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 1276 18 34205415 34205415 T C intronic FHOD3 NA NA NA intronic ENSG00000134775 NA NA NA NA NA 18q12.2 NA NA NA NA rs59051454 0.14 0.14 0.142 0.128195 0.1581 0.002 0.1153 0.2806 0.0307 0.15 0.0017 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 0.202953 NA NA NA NA NA 0.167 NA 3.8419 1276 8 56711449 56711449 C T intronic TGS1 NA NA NA intronic ENSG00000137574 NA NA NA NA NA 8q12.1 NA NA NA NA rs78872630 0.06 0.06 0.057 0.058107 0.0527 0.0665 0.0288 0.0696 0.0603 0.05 0.06 0.03 0.07 0.0586 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 0.757672 NA NA 0.04686 0.067181 NA 0.043 NA 3.84184 1276 6 130152440 130152440 C T UTR3 TMEM244 NM_001010876:c.*24G>A NA NA UTR3 ENSG00000203756 ENST00000368143:c.*24G>A NA NA NA NA 6q22.33 NA NA NA NA rs9372948 0.15 0.15 0.133 0.155152 0.1561 0.2212 0.1153 0.0628 0.2393 0.15 0.22 0.14 0.06 0.1667 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.248604 NA NA 0.168799 0.076714 NA 0.072 NA 3.8417344 1276 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=MafK_(SC-477),MafF_(M8194),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 1276 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 1276 1 22181322 22181322 A G intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs36080251 0.02 0.02 0.018 0.0345447 0.0487 NA 0.0245 0.0015 0.1074 0.05 NA 0.03 0.0041 0.0529 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 -1.170159 NA NA 0.056874 0.00931 NA 0.022 NA 3.841526 1276 12 96180692 96180692 T C intronic NTN4 NA NA NA intronic ENSG00000074527 NA NA NA NA NA 12q22 NA NA NA NA rs59294014 0.17 0.17 0.128 0.16873 0.0368 0.4117 0.317 0.0696 0.0828 0.03 0.42 0.24 0.06 0.1002 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.521292 1.521292 NA 0.021744 0.052429 NA 0.101 NA 3.841256 1276 5 149456811 149456811 G A intronic CSF1R NA NA NA intronic ENSG00000182578 NA NA NA NA NA 5q32 NA NA NA NA rs3829987 0.18 0.18 0.187 0.196885 0.0308 0.2222 0.2147 0.4024 0.0511 0.03 0.22 0.21 0.36 0.097 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94269 NA NA 0.031047 0.335225 NA 0.21 NA 3.841153 1276 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 1276 17 72209858 72209858 A G intronic TTYH2 NA NA NA intronic ENSG00000141540 NA NA NA Score=446;Name=lod=87 NA 17q25.1 NA Name=c-Myc,CTCF_(C-20),TAF1,Pol2-4H8,CTCF,Pol2 NA NA rs7206926 0.78 0.78 0.798 0.797125 0.7107 0.7262 0.6945 0.9834 0.7802 0.71 0.75 0.71 0.98 0.7422 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 0.561848 NA NA 0.706142 0.940509 NA 0.268 NA 3.840958 1276 12 101687043 101687043 C T intronic UTP20 NA NA NA intronic ENSG00000120800 NA NA NA NA Name=Brain structure (hippocampal volume) 12q23.2 NA NA NA NA rs2290720 0.34 0.34 0.304 0.321086 0.3907 0.4028 0.3862 0.118 0.3937 0.38 0.42 0.37 0.15 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 0.122031 NA NA 0.397674 0.156222 ID=COSN164344;OCCURENCE=1(NS) 0.275 NA 3.840726 1276 13 92101213 92101213 C T intronic GPC5 NA NA NA intronic ENSG00000179399 NA NA NA NA NA 13q31.3 NA NA NA NA rs75621401 0.03 0.03 0.025 0.0269569 0.0646 0.002 0.0245 0.0038 0.047 0.06 0.0017 0.03 0.01 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 0.392581 NA NA 0.050814 0.01271 NA 0.022 NA 3.840686 1276 14 75601737 75601737 A G intronic TMED10 NA NA NA ncRNA_intronic ENSG00000259138 NA NA NA NA NA 14q24.3 NA NA Name=8 NA rs12435391 0.52 0.52 0.48 0.496805 0.503 0.8393 0.611 0.1899 0.4714 0.49 0.82 0.55 0.21 0.5048 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 -1.002791 NA NA 0.485116 0.235134 NA 0.471 NA 3.8404173 1276 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 1276 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 1276 16 9030444 9030444 C G intronic USP7 NA NA NA exonic ENSG00000187555 NA synonymous SNV ENSG00000187555:ENST00000381886:exon1:c.G27C:p.L9L,ENSG00000187555:ENST00000565455:exon1:c.G27C:p.L9L NA NA 16p13.2 NA Name=CTCF_(C-20),ZEB1_(SC-25388),Znf143_(16618-1-AP),POU2F2,CTCF,SMC3_(ab9263),Oct-2,Rad21,YY1_(C-20) Name=117 NA rs1382390 0.99 0.99 0.981 0.977436 1 0.9901 0.9914 0.9266 1 1 1 0.99 0.95 0.9936 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.627943 NA NA 1 0.944 NA 0.935 NA 3.8397333 1276 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 1276 6 130152452 130152452 G A UTR3 TMEM244 NM_001010876:c.*12C>T NA NA UTR3 ENSG00000203756 ENST00000368143:c.*12C>T NA NA NA NA 6q22.33 NA NA NA NA rs9375666 0.15 0.15 0.133 0.155152 0.1561 0.2212 0.1153 0.0628 0.2393 0.15 0.22 0.14 0.06 0.1667 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067541 NA NA 0.170854 0.078302 NA 0.072 NA 3.8396794 1276 15 69325581 69325581 C T exonic NOX5 NA synonymous SNV NOX5:NM_001184779:exon5:c.C735T:p.C245C,NOX5:NM_001184780:exon5:c.C714T:p.C238C,NOX5:NM_024505:exon5:c.C819T:p.C273C exonic ENSG00000255346 NA synonymous SNV ENSG00000255346:ENST00000525143:exon2:c.C219T:p.C73C,ENSG00000255346:ENST00000388866:exon5:c.C819T:p.C273C,ENSG00000255346:ENST00000455873:exon5:c.C714T:p.C238C,ENSG00000255346:ENST00000530406:exon5:c.C735T:p.C245C,ENSG00000255346:ENST00000260364:exon6:c.C765T:p.C255C,ENSG00000255346:ENST00000448182:exon6:c.C681T:p.C227C Score=569;Name=lod=275 NA 15q23 NA NA NA NA rs311893 0.82 0.82 0.791 0.806709 0.9573 0.7381 0.9395 0.6157 0.8865 0.96 0.75 0.95 0.61 0.9117 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 1.123399 NA NA 0.95812 0.67228 NA 0.768 NA 3.8395466 1276 19 58153577 58153577 T C UTR3 ZNF211 NM_198855:c.*28T>C,NM_006385:c.*28T>C,NM_001265598:c.*28T>C,NM_001265597:c.*28T>C,NM_001265600:c.*28T>C,NM_001265599:c.*28T>C NA NA UTR3 ENSG00000121417 ENST00000407202:c.*28T>C,ENST00000347302:c.*28T>C,ENST00000540556:c.*1921T>C,ENST00000254182:c.*28T>C,ENST00000541801:c.*28T>C,ENST00000391703:c.*28T>C,ENST00000544273:c.*28T>C,ENST00000535785:c.*1817T>C,ENST00000299871:c.*28T>C,ENST00000240731:c.*28T>C NA NA NA NA 19q13.43 NA NA NA NA rs3746216 0.22 0.22 0.217 0.214058 0.159 0.3214 0.1297 0.2352 0.1912 0.16 0.31 0.14 0.27 0.1801 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.881445 NA NA 0.155305 0.22197 NA 0.196 NA 3.8389284 1276 14 91211121 91211121 G A intronic TTC7B NA NA NA intronic ENSG00000165914 NA NA NA NA NA 14q32.11 NA NA NA NA rs76723365 0.03 0.03 0.035 0.0275559 0.0636 0.004 0.0346 0.0265 0.0112 0.07 0.01 0.02 0.01 0.0435 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 -1.161804 NA NA 0.054186 0.025193 NA 0.014 NA 3.838714 1276 21 46207886 46207886 G A intronic UBE2G2 NA NA NA intronic ENSG00000184787 NA NA NA NA NA 21q22.3 NA NA NA NA rs74778563 0.03 0.03 0.02 0.0229633 0.0557 0.001 0.0259 0.0045 0.0348 0.06 0.0017 0.04 0.01 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 -0.012436 NA NA 0.056047 0.010667 NA 0.007 NA 3.838353 1276 19 6444148 6444148 C T intronic SLC25A23 NA NA NA intronic ENSG00000125648 NA NA NA NA NA 19p13.3 NA NA NA NA rs60774093 0.04 0.04 0.045 0.0595048 0.0298 NA 0.0288 0.1392 0.0654 0.03 NA 0.03 0.13 0.0923 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.554028 2.554028 NA 0.039599 0.134213 NA 0.051 NA 3.838301 1276 4 187630989 187630989 C A UTR5 FAT1 NM_005245:c.-8G>T NA NA UTR5 ENSG00000083857 ENST00000441802:c.-8G>T,ENST00000509647:c.-8G>T NA NA NA NA 4q35.2 NA NA NA NA rs17077740 0.22 0.22 0.236 0.261382 0.1302 0.2758 0.1254 0.3994 0.2914 0.12 0.28 0.15 0.37 0.2267 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956748 NA NA 0.138318 0.341225 NA 0.333 NA 3.8381154 1276 11 134244426 134244426 G A intronic GLB1L2 NA NA NA intronic ENSG00000149328 NA NA NA NA NA 11q25 NA NA NA NA rs876543 0.08 0.08 0.07 0.0555112 0.162 NA 0.0965 0.0136 0.0307 0.18 NA 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 0.028523 NA NA NA NA NA 0.109 NA 3.838 1276 2 223917812 223917812 T C exonic KCNE4 NA synonymous SNV KCNE4:NM_080671:exon2:c.T417C:p.P139P exonic ENSG00000152049 NA synonymous SNV ENSG00000152049:ENST00000281830:exon2:c.T417C:p.P139P,ENSG00000152049:ENST00000604125:exon2:c.T264C:p.P88P NA NA 2q36.1 NA NA Name=30 NA rs10201907 0.97 0.97 0.951 0.966653 0.9364 0.9931 0.9669 0.9811 0.9509 0.94 0.99 0.96 0.98 0.9478 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 0.249011 NA NA 0.944884 0.982524 NA 0.971 NA 3.8375826 1276 14 75018086 75018086 A G intronic LTBP2 NA NA NA intronic ENSG00000119681 NA NA NA NA NA 14q24.3 NA NA NA NA rs55971017 0.06 0.06 0.054 0.0766773 0.0487 NA 0.0403 0.1876 0.0603 0.06 NA 0.04 0.16 0.0718 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.64125 3.64125 NA 0.042181 0.147126 NA 0.109 NA 3.837319 1276 1 22178469 22178469 A G intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs34346159 0.02 0.02 0.022 0.0347444 0.0487 NA 0.0245 0.0015 0.1084 0.05 NA 0.03 0.0041 0.0606 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 -0.30288 NA NA 0.053796 0.009087 NA 0.022 NA 3.836904 1276 12 107083059 107083059 C T ncRNA_intronic LOC100287944 NA NA NA intronic ENSG00000111783,ENSG00000257545 NA NA NA NA NA 12q23.3 NA NA NA NA rs7961392 0.27 0.27 0.272 0.267772 0.1481 0.381 0.2752 0.326 0.1902 0.16 0.4 0.21 0.32 0.1976 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.043696 NA NA 0.150814 0.288016 NA 0.174 NA 3.8368193 1276 6 160523709 160523709 C T intronic IGF2R NA NA NA intronic ENSG00000197081 NA NA NA NA NA 6q25.3 NA NA NA NA rs2297367 0.06 0.06 0.047 0.0708866 0.0487 0.0357 0.0677 0.1044 0.0869 0.05 0.03 0.06 0.13 0.0701 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.020281 NA NA 0.044556 0.099046 NA 0.065 NA 3.836644 1276 2 20823816 20823816 G T intronic HS1BP3 NA NA NA intronic ENSG00000118960 NA NA NA NA NA 2p24.1 NA NA Name=3 NA rs2305460 0.47 0.47 0.428 0.46845 0.3469 0.7222 0.5086 0.2489 0.6002 0.37 0.78 0.48 0.26 0.4414 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 0.843802 NA NA 0.375204 0.269982 NA 0.348 NA 3.836496 1276 4 141590043 141590043 G A intronic TBC1D9 NA NA NA intronic ENSG00000109436 NA NA NA NA NA 4q31.21 NA NA NA NA rs111636015 0.03 0.03 0.022 0.024361 0.0596 NA 0.0504 0.0121 0.0112 0.06 NA 0.06 0.01 0.041 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 -0.874102 NA NA 0.062969 0.016009 NA 0.022 NA 3.836431 1276 19 45476504 45476504 T G intronic CLPTM1 NA NA NA intronic ENSG00000104853 NA NA NA NA NA 19q13.32 NA NA NA NA rs73558179 0.12 0.12 0.139 0.124201 0.0408 0.1696 0.0447 0.2269 0.0808 0.05 0.15 0.05 0.23 0.0759 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.90943 NA NA 0.046988 0.21153 NA 0.116 NA 3.836312 1276 6 38670837 38670837 G A UTR5 GLO1 NM_006708:c.-7C>T NA NA UTR5 ENSG00000124767 ENST00000373365:c.-7C>T NA NA NA NA 6p21.2 NA Name=ELF1_(SC-631),HEY1,NELFe,E2F1,TAF1,HMGN3,NFKB,eGFP-JunB,Pol2-4H8,TAF7_(SQ-8),E2F6,POU2F2,GTF2B,E2F6_(H-50),Pol2,Pol2(phosphoS2),USF1_(SC-8983),HA-E2F1,CHD2_(N-1250),ZNF263,GTF2F1_(RAP-74),SREBP2,Pol2(b),TBP,CCNT2,WHIP,YY1,NF-YB,c-Fos,SETDB1,Sin3Ak-20,E2F4,SREBP1,NRSF,Max,YY1_(C-20),Oct-2,c-Myc,TAL1_(SC-12984) NA NA rs1049346 0.55 0.55 0.545 0.564696 0.4911 0.5833 0.4769 0.6974 0.5041 0.49 0.55 0.49 0.69 0.5234 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 1.180278 NA NA 0.482783 0.671435 NA 0.529 NA 3.8360504 1276 7 29605975 29605975 C G exonic PRR15 NA synonymous SNV PRR15:NM_175887:exon2:c.C30G:p.S10S exonic ENSG00000176532 NA synonymous SNV ENSG00000176532:ENST00000319694:exon2:c.C30G:p.S10S,ENSG00000176532:ENST00000450427:exon2:c.C30G:p.S10S NA NA 7p14.3 NA NA Name=18 NA rs2302618 0.83 0.83 0.803 0.827476 0.9652 0.7292 0.8631 0.7511 0.865 0.96 0.73 0.88 0.73 0.9028 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 0.205668 NA NA 0.962668 0.809021 NA 0.855 NA 3.8359986 1276 2 112765973 112765973 A G exonic MERTK NA synonymous SNV MERTK:NM_006343:exon14:c.A1881G:p.S627S exonic ENSG00000153208 NA synonymous SNV ENSG00000153208:ENST00000409780:exon13:c.A1353G:p.S451S,ENSG00000153208:ENST00000295408:exon14:c.A1881G:p.S627S,ENSG00000153208:ENST00000421804:exon14:c.A1881G:p.S627S NA NA 2q13 NA NA NA NA rs1131244 0.48 0.48 0.464 0.515176 0.6243 0.2738 0.5951 0.4992 0.6166 0.62 0.21 0.6 0.47 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 -0.074281 NA NA 0.624186 0.516795 NA 0.594 NA 3.8356806 1276 17 73816026 73816026 A G exonic UNK NA synonymous SNV UNK:NM_001080419:exon13:c.A1674G:p.A558A exonic ENSG00000132478 NA synonymous SNV ENSG00000132478:ENST00000589666:exon13:c.A1674G:p.A558A,ENSG00000132478:ENST00000293218:exon14:c.A1902G:p.A634A NA NA 17q25.1 NA NA Name=2 NA rs11868471 0.84 0.84 0.826 0.864816 0.9602 0.6954 0.9193 0.8442 0.9305 0.96 0.63 0.92 0.84 0.9151 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 1.070332 NA NA 0.95572 0.861968 NA 0.899 NA 3.8356466 1276 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 1276 6 25420344 25420344 C G exonic LRRC16A NA synonymous SNV LRRC16A:NM_001173977:exon3:c.C141G:p.V47V,LRRC16A:NM_017640:exon3:c.C141G:p.V47V exonic ENSG00000079691 NA synonymous SNV ENSG00000079691:ENST00000329474:exon3:c.C141G:p.V47V Score=409;Name=lod=61 NA 6p22.2 NA NA NA NA rs913455 0.93 0.93 0.925 0.947484 0.9443 1 0.9625 0.8631 1 0.94 1 0.96 0.84 0.9525 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.004545 2.004545 NA 0.93433 0.882762 NA 0.949 NA 3.8355366 1276 11 65713207 65713207 T C exonic TSGA10IP NA unknown UNKNOWN ncRNA_exonic ENSG00000175513 NA NA NA NA NA 11q13.1 NA Name=Pol2,Pol2-4H8,TAF1,SP1,NANOG_(SC-33759),TBP Name=4 NA rs9795469 1 1 1 0.999401 1 1 1 0.9977 1 1 1 1 1 0.9984 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.906008 NA NA 0.999881 0.998082 NA 1 NA 3.8350523 1277 8 42037924 42037924 T A intronic PLAT NA NA NA intronic ENSG00000104368 NA NA NA NA NA 8p11.21 NA Name=NFKB,MEF2A,MEF2C_(SC-13268) Name=12 NA rs2020922 0.77 0.77 0.794 0.809305 0.7197 0.7331 0.696 0.9849 0.8231 0.73 0.72 0.67 0.98 0.7424 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 0.273107 NA NA 0.702907 0.937131 NA 0.768 NA 3.834993 1277 1 21889635 21889635 T C exonic ALPL NA synonymous SNV ALPL:NM_001177520:exon3:c.T99C:p.S33S,ALPL:NM_001127501:exon4:c.T165C:p.S55S,ALPL:NM_000478:exon5:c.T330C:p.S110S exonic ENSG00000162551 NA synonymous SNV ENSG00000162551:ENST00000539907:exon3:c.T99C:p.S33S,ENSG00000162551:ENST00000425315:exon4:c.T330C:p.S110S,ENSG00000162551:ENST00000540617:exon4:c.T165C:p.S55S,ENSG00000162551:ENST00000374832:exon5:c.T330C:p.S110S,ENSG00000162551:ENST00000374840:exon5:c.T330C:p.S110S Score=403;Name=lod=58 NA 1p36.12 NA NA NA NA rs1780316 0.94 0.94 0.94 0.929513 0.9374 0.9821 0.9539 0.8495 0.9581 0.94 0.99 0.95 0.85 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 0.056337 NA NA 0.949302 0.867907 NA 0.92 NA 3.8349646 1277 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 1277 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 1277 1 114092306 114092306 A G intronic MAGI3 NA NA NA intronic ENSG00000081026 NA NA NA NA NA 1p13.2 NA NA NA NA rs10858004 0.15 0.15 0.151 0.16254 0.166 0.0228 0.1628 0.2277 0.2147 0.18 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 1.929955 1.929955 NA NA NA NA 0.159 NA 3.834 1277 2 44004099 44004099 T G intronic DYNC2LI1 NA NA NA intronic ENSG00000138036 NA NA NA NA NA 2p21 NA NA NA NA rs17031494 0.16 0.16 0.145 0.180112 0.166 0.0208 0.1628 0.2988 0.2106 0.16 0.02 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 0.266106 NA NA NA NA NA 0.21 NA 3.834 1277 6 35704831 35704831 C G upstream ARMC12,LOC285847 NA NA NA UTR5 ENSG00000157343 ENST00000373869:c.-55C>G NA NA NA NA 6p21.31 NA NA NA NA rs56354119 0.1 0.1 0.084 0.0836661 0.166 0.0446 0.0807 0.0121 0.138 0.18 0.05 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 -0.581812 NA NA NA NA NA 0.109 NA 3.834 1277 20 62198236 62198236 G A exonic HELZ2 NA synonymous SNV HELZ2:NM_033405:exon1:c.C768T:p.R256R,HELZ2:NM_001037335:exon7:c.C2475T:p.R825R exonic ENSG00000130589 NA synonymous SNV ENSG00000130589:ENST00000427522:exon1:c.C768T:p.R256R,ENSG00000130589:ENST00000467148:exon6:c.C2475T:p.R825R NA NA 20q13.33 NA NA NA NA rs415304 0.5 0.5 0.486 0.501198 0.6143 0.4177 0.6686 0.382 0.5133 0.6 0.38 0.66 0.39 0.5874 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 -0.825605 NA NA 0.630991 0.417273 NA 0.348 NA 3.8339756 1277 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 1277 1 116569530 116569530 G C exonic SLC22A15 NA synonymous SNV SLC22A15:NM_018420:exon5:c.G615C:p.L205L exonic ENSG00000163393 NA synonymous SNV ENSG00000163393:ENST00000369502:exon5:c.G615C:p.L205L,ENSG00000163393:ENST00000369503:exon5:c.G615C:p.L205L Score=419;Name=lod=67 NA 1p13.1 NA NA NA NA rs2488429 0.91 0.91 0.913 0.903355 0.9543 0.874 0.8674 0.8495 0.9796 0.95 0.9 0.91 0.86 0.9283 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 0.577831 NA NA 0.950399 0.877755 NA 0.87 NA 3.8336676 1277 2 125192068 125192068 T C exonic CNTNAP5 NA synonymous SNV CNTNAP5:NM_130773:exon5:c.T537C:p.D179D exonic ENSG00000155052 NA synonymous SNV ENSG00000155052:ENST00000431078:exon5:c.T537C:p.D179D Score=603;Name=lod=376 NA 2q14.3 NA NA NA NA rs1425745 0.85 0.85 0.854 0.824281 0.9642 0.8611 0.8545 0.6755 0.8221 0.95 0.86 0.83 0.71 0.9018 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 0.662664 NA NA 0.967112 0.718635 NA 0.848 NA 3.8335546 1277 17 73490955 73490955 C G intronic KIAA0195 NA NA NA intronic ENSG00000177728 NA NA NA NA NA 17q25.1 NA NA NA NA rs78234400 0.03 0.03 0.026 0.0269569 0.0765 0.001 0.0331 0.0106 0.0204 0.07 0.0017 0.03 0.01 0.0344 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 0.673864 NA NA 0.055581 0.018838 NA 0.007 NA 3.833519 1277 4 87277 87277 G C exonic ZNF595 NA unknown UNKNOWN ncRNA_exonic ENSG00000255436 NA NA NA NA NA 4p16.3 NA Name=SETDB1,ZNF274 NA NA rs2006764 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 -0.282962 NA NA NA NA NA 1 NA 3.8334333 1277 1 64100478 64100478 A T intronic PGM1 NA NA NA intronic ENSG00000079739 NA NA NA NA NA 1p31.3 Score=796;Name=V$POU3F2_01 NA NA NA rs6588052 0.52 0.52 0.497 0.5002 0.3897 0.6488 0.428 0.5908 0.3896 0.38 0.69 0.44 0.59 0.4141 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 0.37654 NA NA 0.362791 0.541988 NA 0.478 NA 3.833409 1277 19 41700493 41700493 G C exonic CYP2S1 NA synonymous SNV CYP2S1:NM_030622:exon2:c.G222C:p.P74P exonic ENSG00000167600 NA synonymous SNV ENSG00000167600:ENST00000310054:exon2:c.G222C:p.P74P,ENSG00000167600:ENST00000593545:exon2:c.G222C:p.P74P,ENSG00000167600:ENST00000600561:exon2:c.G222C:p.P74P Score=499;Name=lod=142 NA 19q13.2 NA NA NA NA rs338599 0.88 0.88 0.88 0.877796 0.9453 0.7897 0.9323 0.8623 0.8814 0.94 0.79 0.93 0.86 0.9261 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 -0.616154 NA NA 0.96186 0.881298 NA 0.92 NA 3.8334066 1277 15 56657581 56657581 A C upstream TEX9 NA NA NA intronic ENSG00000151575 NA NA NA NA NA 15q21.3 NA Name=Egr-1,TBP,CCNT2,CEBPB,YY1,BRCA1_(C-1863),GTF2F1_(RAP-74),SMC3_(ab9263),Max,YY1_(C-20),ZBTB33,Sin3Ak-20,E2F4,NRSF,Mxi1_(bHLH),PAX5-C20,TAF1,HMGN3,NFKB,MEF2A,Pol2-4H8,ELF1_(SC-631),STAT1,HEY1,E2F1,Pol2,Pol2(phosphoS2),HA-E2F1,CHD2_(N-1250),Ini1,E2F6,E2F6_(H-50) Name=147 NA rs2682033 1 1 1 0.999201 1 1 0.9986 0.9977 1 1 1 1 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 1.592086 1.592086 NA 1 0.996334 NA 1 NA 3.8333333 1277 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 1277 19 1271529 1271529 C T intronic CIRBP NA NA NA exonic ENSG00000099622 NA nonsynonymous SNV ENSG00000099622:ENST00000591659:exon4:c.C412T:p.H138Y NA NA 19p13.3 NA Name=EBF1_(C-8) NA NA rs4807050 0.8 0.8 0.783 0.778754 0.7853 0.9762 0.8228 0.6014 0.7771 0.79 0.99 0.79 0.61 0.789 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 0.380626 NA NA 0.7596 0.638965 NA 0.732 NA 3.8327667 1277 14 73718879 73718879 A G intronic PAPLN NA NA NA intronic ENSG00000100767 NA NA NA NA NA 14q24.2 NA Name=ZNF263 NA NA rs2242610 0.51 0.51 0.484 0.522364 0.3449 0.7192 0.5533 0.5234 0.4785 0.36 0.7 0.51 0.52 0.4764 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 -0.303541 NA NA 0.345955 0.494521 NA 0.471 NA 3.832745 1277 7 30538399 30538399 C G intronic GGCT NA NA NA intronic ENSG00000006625 NA NA NA NA NA 7p14.3 NA NA NA NA rs71532977 0.03 0.03 0.026 0.0229633 0.0606 0.0228 0.0202 0.0008 0.0164 0.06 0.03 0.02 0.0041 0.046 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 -0.020647 NA NA 0.060698 0.01271 NA 0.007 NA 3.832702 1277 7 65842545 65842545 T C ncRNA_exonic LINC00174 NA NA NA ncRNA_exonic ENSG00000179406 NA NA NA NA NA 7q11.21 NA NA NA NA rs3815685 0.35 0.35 NA 0.418331 0.3877 0.5744 0.3948 0.2769 0.4969 0.33 0.5 0.35 0.22 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 -0.777407 NA NA NA NA NA NA NA 3.8323666 1277 1 9027899 9027899 G T intronic CA6 NA NA NA intronic ENSG00000131686 NA NA NA NA NA 1p36.23 NA NA NA NA rs2274334 0.04 0.04 0.026 0.0349441 0.0577 0.0079 0.0937 0.0061 0.0368 0.05 0.01 0.09 0.01 0.0564 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 -0.938017 NA NA 0.053605 0.010213 NA 0.007 NA 3.832295 1277 X 1506318 1506318 C G intronic SLC25A6 NA NA NA intronic ENSG00000169100 NA NA NA NA NA Xp22.33 NA Name=Pol2-4H8 NA NA rs6644951 0.6 0.6 NA NA NA NA NA NA NA 0.57 0.47 0.64 0.78 0.6091 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 -0.261163 NA NA 0.558892 0.750113 NA 0.63 NA 3.832008 1277 1 247021138 247021138 A T intronic AHCTF1 NA NA NA intronic ENSG00000153207 NA NA NA NA NA 1q44 NA NA NA NA rs41310593 0.03 0.03 0.026 0.0227636 0.0606 0.001 0.049 0.0061 0.0102 0.06 NA 0.06 0.01 0.0518 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 -0.158343 NA NA 0.055724 0.012937 NA 0.072 NA 3.831876 1277 5 94901655 94901655 C G intronic ARSK NA NA NA intronic ENSG00000164291 NA NA NA NA NA 5q15 NA NA NA NA rs80012555 0.07 0.07 0.081 0.0720847 0.0557 0.1091 0.0576 0.0333 0.1135 0.05 0.12 0.05 0.04 0.0712 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 1.413629 1.413629 NA 0.041268 0.027285 NA 0.029 NA 3.831832 1277 2 85925667 85925667 G A intronic GNLY NA NA NA intronic ENSG00000115523 NA NA NA NA NA 2p11.2 NA NA Name=8 NA rs4240201 0.37 0.37 0.335 0.343051 0.4046 0.5923 0.4006 0.0628 0.3609 0.41 0.58 0.4 0.05 0.3824 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037976 NA NA 0.381628 0.111439 NA 0.355 NA 3.831372 1277 13 20356941 20356941 T A intronic PSPC1 NA NA NA UTR5 ENSG00000121390 ENST00000471658:c.-44A>T,ENST00000492741:c.-44A>T,ENST00000338910:c.-44A>T NA NA NA NA 13q12.11 NA Name=c-Myc,Oct-2,HEY1,NFKB,TAF1,Pol2-4H8,TAF7_(SQ-8),POU2F2,Pol2(phosphoS2),Pol2,HA-E2F1 Name=148 NA rs9508887 0.72 0.72 0.691 0.67492 0.7604 0.874 0.7522 0.3268 0.7975 0.8 0.92 0.73 0.38 0.7691 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 0.349335 NA NA 0.805819 0.484733 NA 0.558 NA 3.8313477 1277 4 68384008 68384008 C T exonic CENPC1 NA synonymous SNV CENPC1:NM_001812:exon7:c.G696A:p.S232S exonic ENSG00000145241 NA synonymous SNV ENSG00000145241:ENST00000513216:exon3:c.G417A:p.S139S,ENSG00000145241:ENST00000273853:exon7:c.G696A:p.S232S,ENSG00000145241:ENST00000506882:exon7:c.G696A:p.S232S NA NA 4q13.2 NA NA NA NA rs355510 0.65 0.65 0.668 0.704273 0.6252 0.8274 0.7565 0.6316 0.7198 0.57 0.8 0.72 0.57 0.6176 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 -1.15023 NA NA 0.593 0.634454 NA 0.783 NA 3.8308666 1277 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 1277 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 1277 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 1277 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 1277 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 1277 X 47663200 47663200 G A intergenic CXXC1P1,ZNF81 dist=67173;dist=33101 NA NA ncRNA_exonic ENSG00000188459 NA NA NA Score=635;Name=lod=509 NA Xp11.23 NA NA NA NA rs1207505 0.66 0.66 0.65421 NA NA NA NA NA NA 0.59 0.84 0.69 0.56 0.6049 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 -0.198758 NA NA 0.564952 0.61043 NA 0.457 NA 3.830148 1277 8 86389403 86389403 T C exonic CA2 NA synonymous SNV CA2:NM_000067:exon6:c.T562C:p.L188L exonic ENSG00000104267 NA synonymous SNV ENSG00000104267:ENST00000285379:exon6:c.T562C:p.L188L NA NA 8q21.2 NA NA NA NA rs703 0.6 0.6 0.609 0.577676 0.6322 0.498 0.5476 0.7375 0.409 0.62 0.49 0.56 0.72 0.5893 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12692 NA NA 0.615116 0.697685 NA 0.522 NA 3.8300506 1277 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 1277 7 2303986 2303986 T C exonic SNX8 NA synonymous SNV SNX8:NM_013321:exon6:c.A729G:p.A243A exonic ENSG00000106266 NA synonymous SNV ENSG00000106266:ENST00000222990:exon6:c.A729G:p.A243A NA NA 7p22.3 Score=875;Name=V$CHOP_01 NA NA NA rs2286206 0.86 0.86 0.871 0.843251 0.9652 0.7996 0.8775 0.7428 0.8742 0.97 0.8 0.87 0.77 0.9117 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 -0.455327 NA NA 0.960233 0.781207 NA 0.841 NA 3.8295336 1277 20 61981536 61981536 A G exonic CHRNA4 NA synonymous SNV CHRNA4:NM_000744:exon5:c.T1227C:p.C409C,CHRNA4:NM_001256573:exon5:c.T699C:p.C233C exonic ENSG00000101204 NA synonymous SNV ENSG00000101204:ENST00000370263:exon5:c.T1227C:p.C409C NA NA 20q13.33 NA NA NA NA rs2229960 0.88 0.88 0.855 0.870807 0.9533 1 0.9337 0.6074 0.9642 0.95 1 0.93 0.59 0.9357 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.255502 NA NA 0.948739 0.677722 NA 0.819 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079311.3;CLNDSDB=.;CLNDSDBID=. 3.8289276 1277 5 145890028 145890028 A G exonic TCERG1 NA synonymous SNV TCERG1:NM_001040006:exon21:c.A3057G:p.S1019S,TCERG1:NM_006706:exon22:c.A3120G:p.S1040S exonic ENSG00000113649 NA synonymous SNV ENSG00000113649:ENST00000394421:exon21:c.A3057G:p.S1019S,ENSG00000113649:ENST00000296702:exon22:c.A3120G:p.S1040S Score=685;Name=lod=813 NA 5q32 NA NA NA NA rs4705103 0.97 0.97 0.966 0.980431 0.9344 1 0.9726 0.9962 0.9918 0.93 1 0.96 1 0.9622 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443029 NA NA 0.941512 0.985928 NA 0.978 NA 3.8285546 1277 2 234200999 234200999 T A intronic ATG16L1 NA NA NA intronic ENSG00000085978 NA NA NA NA NA 2q37.1 NA NA NA NA rs56242862 0.05 0.05 0.051 0.0720847 0.0557 0.0278 0.049 0.0779 0.1431 0.05 0.03 0.06 0.08 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 0.06133 NA NA 0.053256 0.064685 NA 0.203 NA 3.828544 1277 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 1277 3 183683124 183683124 G A intronic ABCC5 NA NA NA intronic ENSG00000114770 NA NA NA NA NA 3q27.1 NA NA NA NA rs28365027 0.02 0.02 0.017 0.0321486 0.0596 0.001 0.0403 0.0015 0.0716 0.05 NA 0.03 NA 0.0493 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 -0.277917 NA NA 0.062676 0.011116 NA 0.022 NA 3.828424 1277 19 17691938 17691938 G C intronic COLGALT1 NA NA NA intronic ENSG00000130309 NA NA NA NA NA 19p13.11 NA NA NA NA rs73524018 0.11 0.11 0.124 0.134385 0.0437 0.0317 0.0648 0.351 0.09 0.04 0.03 0.07 0.35 0.076 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.706999 NA NA 0.051977 0.290967 ID=COSN165757;OCCURENCE=1(breast) 0.087 NA 3.828323 1277 3 160144022 160144022 A G intronic SMC4 NA NA NA intronic ENSG00000113810,ENSG00000248710 NA NA NA NA NA 3q25.33 NA NA NA NA rs41272959 0.05 0.05 0.034 0.0401358 0.0746 0.0437 0.0245 0.0159 0.045 0.08 0.04 0.04 0.02 0.0511 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 -0.394736 NA NA 0.04626 0.017857 NA 0.159 NA 3.82804 1277 X 47662972 47662972 T G intergenic CXXC1P1,ZNF81 dist=66945;dist=33329 NA NA ncRNA_exonic ENSG00000188459 NA NA NA Score=521;Name=lod=175 NA Xp11.23 NA NA NA NA rs909713 0.67 0.67 0.6566 NA NA NA NA NA NA 0.59 0.84 0.69 0.57 0.6063 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 0.043008 NA NA 0.565696 0.626597 NA 0.464 NA 3.828004 1277 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 1277 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 1277 1 92459613 92459613 G A intronic BRDT NA NA NA intronic ENSG00000137948 NA NA NA NA NA 1p22.1 NA NA NA NA rs74101067 0.05 0.05 0.047 0.0547125 0.0507 0.003 0.049 0.1104 0.0409 0.06 0.0017 0.06 0.09 0.0558 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 0.638434 NA NA 0.066279 0.098956 NA 0.051 NA 3.827221 1277 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 1277 1 226555348 226555348 G A intronic PARP1 NA NA NA intronic ENSG00000143799 NA NA NA NA NA 1q42.12 NA NA NA NA rs3219123 0.03 0.03 0.034 0.0265575 0.0666 NA 0.0389 0.0023 0.0368 0.07 NA 0.05 0.002 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 -0.037708 NA NA 0.060465 0.012256 NA 0.014 NA 3.827035 1277 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 1277 22 31532608 31532608 G A intronic PLA2G3 NA NA NA intronic ENSG00000100078 NA NA NA NA NA 22q12.2 NA NA NA NA rs2232184 0.16 0.16 0.125 0.134585 0.173 0.1657 0.0908 0.1278 0.1033 0.18 0.17 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 -0.562352 NA NA NA NA NA 0.181 NA 3.827 1277 16 68713823 68713823 C A exonic CDH3 NA synonymous SNV CDH3:NM_001793:exon7:c.C813A:p.T271T exonic ENSG00000062038 NA synonymous SNV ENSG00000062038:ENST00000581171:exon6:c.C648A:p.T216T,ENSG00000062038:ENST00000264012:exon7:c.C813A:p.T271T,ENSG00000062038:ENST00000429102:exon7:c.C813A:p.T271T NA NA 16q22.1 NA NA NA NA rs2296408 0.63 0.63 0.617 0.607827 0.6223 0.6141 0.5476 0.6679 0.5481 0.62 0.61 0.57 0.69 0.594 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 -0.96606 NA NA 0.623721 0.672657 NA 0.703 NA 3.8266456 1277 9 8454566 8454566 T C intronic PTPRD NA NA NA intronic ENSG00000153707 NA NA NA NA NA 9p24.1 Score=974;Name=V$PAX2_02 NA NA NA rs7031287 0.46 0.46 0.471 0.502995 0.3748 0.3671 0.4798 0.6831 0.5481 0.36 0.38 0.49 0.66 0.4198 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 1.046488 NA NA 0.378769 0.635864 NA 0.471 NA 3.826631 1277 8 114111197 114111197 T A intronic CSMD3 NA NA NA intronic ENSG00000164796 NA NA NA NA NA 8q23.3 NA NA NA NA rs61753741 0.11 0.11 0.108 0.146965 0.0457 0.1954 0.0389 0.2292 0.1667 0.04 0.17 0.03 0.21 0.08 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.291121 NA NA 0.047686 0.18089 NA 0.174 NA 3.826614 1277 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 1277 7 135261689 135261689 G A intronic NUP205 NA NA NA intronic ENSG00000155561 NA NA NA NA NA 7q33 NA NA NA NA rs73725137 0.06 0.06 0.064 0.086262 0.0557 0.0546 0.0562 0.0893 0.1677 0.05 0.06 0.06 0.08 0.0642 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 -0.530776 NA NA 0.053837 0.094644 NA 0.08 NA 3.826263 1277 1 165649715 165649715 T C intronic ALDH9A1 NA NA NA intronic ENSG00000143149 NA NA NA NA NA 1q24.1 NA NA NA NA rs16849374 0.12 0.12 0.133 0.161542 0.0537 0.0129 0.1023 0.3865 0.1636 0.05 0.02 0.08 0.39 0.0846 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717857 NA NA 0.035814 0.323423 NA 0.181 NA 3.825886 1277 19 1065197 1065197 G C intronic ABCA7 NA NA NA intronic ENSG00000064687 NA NA NA NA NA 19p13.3 NA Name=ZNF263,Max,Rad21,ERalpha_a,ELF1_(SC-631),HA-E2F1,E2F6,CTCF Name=123 NA rs4147936 0.64 0.64 0.621 0.605831 0.7127 0.4355 0.7867 0.5968 0.5552 0.72 0.49 0.76 0.59 0.722 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 0.847375 NA NA 0.73945 0.639232 NA 0.681 NA 3.82585 1277 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 1277 3 190338265 190338265 A G intronic IL1RAP NA NA NA intronic ENSG00000196083 NA NA NA NA NA 3q28 NA NA NA NA rs41500851 0.1 0.1 0.096 0.10603 0.0487 0.1478 0.1455 0.0628 0.1524 0.05 0.18 0.1 0.07 0.079 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040204 NA NA 0.046628 0.044031 NA 0.058 NA 3.825672 1277 6 52850408 52850408 G A intronic GSTA4 NA NA NA intronic ENSG00000170899 NA NA NA NA NA 6p12.2 NA NA NA NA rs41273862 0.02 0.02 0.028 0.0227636 0.0557 NA 0.0187 0.0023 0.0429 0.06 NA 0.02 NA 0.0503 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 0.515886 NA NA 0.068372 0.014526 NA 0.029 NA 3.825628 1277 11 119216231 119216231 A G exonic MFRP NA synonymous SNV MFRP:NM_031433:exon5:c.T540C:p.H180H exonic ENSG00000235718,ENSG00000259159 NA synonymous SNV ENSG00000235718:ENST00000360167:exon5:c.T540C:p.H180H,ENSG00000235718:ENST00000449574:exon5:c.T540C:p.H180H,ENSG00000259159:ENST00000530681:exon5:c.T540C:p.H180H,ENSG00000235718:ENST00000555262:exon5:c.T540C:p.H180H NA NA 11q23.3 Score=741;Name=V$MYOGNF1_01 NA NA NA rs2510143 0.89 0.89 0.893 0.901957 0.9493 0.875 0.8732 0.8449 0.9785 0.95 0.86 0.89 0.84 0.9364 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 -0.809758 NA NA 0.955646 0.873124 NA 0.899 NA 3.8253206 1277 8 71037131 71037131 A G intronic NCOA2 NA NA NA intronic ENSG00000140396 NA NA NA NA NA 8q13.3 NA NA NA NA rs3736661 0.06 0.06 0.051 0.0722843 0.0557 0.1687 0.062 0.0015 0.093 0.05 0.12 0.04 0.002 0.063 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 0.550223 NA NA 0.056264 0.010193 NA 0.051 NA 3.825036 1277 16 55731735 55731735 G A intronic SLC6A2 NA NA NA intronic ENSG00000103546 NA NA NA NA NA 16q12.2 NA NA NA NA rs8047672 0.15 0.15 0.133 0.164337 0.175 0.0228 0.098 0.2746 0.1973 0.17 0.02 0.11 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 -0.057331 NA NA NA NA NA 0.123 NA 3.825 1278 3 98489686 98489686 A G intronic ST3GAL6 NA NA NA intronic ENSG00000064225 NA NA NA NA NA 3q12.1 NA Name=EBF1_(C-8) NA NA rs1440153 0.33 0.33 0.339 0.34365 0.3738 0.248 0.3343 0.4191 0.316 0.39 0.2 0.32 0.4 0.3882 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.903771 NA NA 0.41314 0.424875 ID=COSN166945;OCCURENCE=1(large_intestine) 0.304 NA 3.82486 1278 13 21732094 21732094 C T exonic SKA3 NA synonymous SNV SKA3:NM_001166017:exon7:c.G1086A:p.P362P,SKA3:NM_145061:exon7:c.G1086A:p.P362P exonic ENSG00000165480 NA synonymous SNV ENSG00000165480:ENST00000314759:exon7:c.G1086A:p.P362P,ENSG00000165480:ENST00000400018:exon7:c.G1086A:p.P362P Score=349;Name=lod=35 NA 13q12.11 NA NA NA NA rs4770121 0.93 0.93 0.92 0.923722 0.9473 1 0.938 0.792 0.9888 0.95 1 0.92 0.81 0.9502 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262251 NA NA 0.944406 0.828643 NA 0.942 NA 3.8247606 1278 1 234603205 234603205 C T intronic TARBP1 NA NA NA intronic ENSG00000059588 NA NA NA NA NA 1q42.2 NA NA NA NA rs16843273 0.14 0.14 0.121 0.167931 0.0358 0.2609 0.2147 0.0983 0.2689 0.04 0.27 0.21 0.1 0.1013 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.359129 NA NA 0.03814 0.090331 NA 0.152 NA 3.82476 1278 14 57088433 57088433 A T intronic TMEM260 NA NA NA intronic ENSG00000070269 NA NA NA NA NA 14q22.3 NA NA NA NA rs12589087 0.16 0.16 0.115 0.128794 0.0408 0.1835 0.0591 0.2466 0.0532 0.09 0.18 0.09 0.29 0.0813 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.308634 1.308634 NA 0.053256 0.232183 NA 0.145 NA 3.824644 1278 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 1278 10 98380277 98380277 C T exonic PIK3AP1 NA synonymous SNV PIK3AP1:NM_152309:exon12:c.G1773A:p.S591S exonic ENSG00000155629 NA synonymous SNV ENSG00000155629:ENST00000371109:exon5:c.G570A:p.S190S,ENSG00000155629:ENST00000371110:exon11:c.G1239A:p.S413S,ENSG00000155629:ENST00000339364:exon12:c.G1773A:p.S591S NA NA 10q24.1 NA NA NA NA rs3748234 0.6 0.6 0.567 0.573283 0.5994 0.8234 0.5058 0.3177 0.682 0.61 0.85 0.54 0.32 0.6205 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 0.556002 NA NA 0.623023 0.347481 NA 0.536 NA 3.8237436 1278 15 53230662 53230662 C T intergenic ONECUT1,WDR72 dist=148453;dist=575276 NA NA ncRNA_exonic ENSG00000259612 NA NA NA Score=851;Name=lod=3838 NA 15q21.3 NA NA NA NA rs12050508 0.3 0.3 0.283 0.270767 0.4274 0.3651 0.3055 0.0431 0.2955 0.42 0.37 0.31 0.04 0.3581 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146054 NA NA 0.390758 0.102169 NA 0.297 NA 3.823742 1278 1 237711797 237711797 A G exonic RYR2 NA synonymous SNV RYR2:NM_001035:exon26:c.A2973G:p.S991S exonic ENSG00000198626 NA synonymous SNV ENSG00000198626:ENST00000542537:exon25:c.A2925G:p.S975S,ENSG00000198626:ENST00000366574:exon26:c.A2973G:p.S991S,ENSG00000198626:ENST00000360064:exon27:c.A2967G:p.S989S NA NA 1q43 NA NA NA NA rs2253273 0.83 0.83 0.816 0.830272 0.9583 0.872 0.951 0.5378 0.9652 0.96 0.85 0.94 0.54 0.9262 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 -0.019216 NA NA 0.958454 0.620313 NA 0.79 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036722.1;CLNDSDB=.;CLNDSDBID=. 3.8237126 1278 5 94833109 94833109 C T intronic TTC37 NA NA NA intronic ENSG00000198677 NA NA NA NA NA 5q15 NA NA NA NA rs10055673 0.08 0.08 0.094 0.0846645 0.0557 0.1091 0.062 0.0787 0.1135 0.05 0.12 0.05 0.09 0.078 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 -0.366855 NA NA 0.042674 0.069451 NA 0.036 NA 3.823626 1278 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 1278 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 1278 6 28501714 28501714 C T intronic GPX5 NA NA NA intronic ENSG00000224586 NA NA NA NA NA 6p22.1 NA NA NA NA rs28382609 0.05 0.05 0.048 0.0497204 0.0586 0.005 0.0461 0.0991 0.0225 0.06 0.01 0.04 0.1 0.0552 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 0.426157 NA NA 0.062791 0.085111 NA 0.058 NA 3.823409 1278 5 176523597 176523597 A G intronic FGFR4 NA NA NA intronic ENSG00000160867 NA NA NA NA NA 5q35.2 Score=856;Name=V$TAL1BETAE47_01 Name=ZNF263 NA NA rs31776 0.77 0.77 0.743 0.785343 0.6918 0.9762 0.8112 0.6089 0.9049 0.69 0.98 0.8 0.63 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 -0.371042 NA NA 0.720814 0.626645 NA 0.833 NA 3.823086 1278 3 178978078 178978078 T G intronic KCNMB3 NA NA NA ncRNA_exonic ENSG00000240429 NA NA NA NA NA 3q26.32 NA NA NA NA rs62410370 0.56 0.56 0.517 0.555312 0.5109 0.8889 0.6311 0.2262 0.6483 0.52 0.88 0.56 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 1.043991 NA NA NA NA NA 0.428 NA 3.8224333 1278 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 1278 3 126747001 126747001 C G intronic PLXNA1 NA NA NA intronic ENSG00000114554 NA NA NA NA NA 3q21.3 NA NA NA NA rs75736787 0.07 0.07 0.057 0.0752796 0.0636 0.0645 0.0317 0.1029 0.092 0.06 0.06 0.03 0.12 0.0601 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 -1.883883 NA NA 0.054419 0.093324 NA 0.036 NA 3.821881 1278 12 49422795 49422795 G A intronic MLL2 NA NA NA intronic ENSG00000167548 NA NA NA NA NA 12q13.12 NA NA NA NA rs11168828 0.03 0.03 0.03 0.0227636 0.0656 NA 0.0447 0.0038 0.0123 0.06 NA 0.03 0.01 0.0457 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 -0.74646 NA NA 0.067226 0.01333 NA 0.007 NA 3.821474 1278 3 160018642 160018642 G C intronic IFT80 NA NA NA intronic ENSG00000068885,ENSG00000248710 NA NA NA NA NA 3q25.33 NA NA NA NA rs9637414 0.05 0.05 0.04 0.0399361 0.0746 0.0427 0.0245 0.0159 0.045 0.08 0.04 0.04 0.02 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 -0.338648 NA NA 0.049669 0.018527 NA 0.159 NA 3.821331 1278 1 12251765 12251765 T G ncRNA_exonic MIR4632 NA NA NA intronic ENSG00000028137 NA NA NA NA NA 1p36.22 NA NA NA NA rs498906 0.19 0.19 0.175 0.19389 0.2147 0.1528 0.1268 0.1762 0.2863 0.23 0.17 0.15 0.18 0.2976 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.6505 1.6505 NA NA NA NA 0.312 NA 3.8210333 1278 11 35218445 35218445 A G intronic CD44 NA NA NA intronic ENSG00000026508 NA NA NA NA NA 11p13 NA NA NA NA rs61882760 0.04 0.04 0.035 0.024361 0.0686 NA 0.0476 0.0053 0.0133 0.08 NA 0.05 0.01 0.052 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 -0.92333 NA NA 0.058529 0.015895 NA 0.007 NA 3.820871 1278 2 1643208 1643208 A G intronic PXDN NA NA NA intronic ENSG00000130508 NA NA NA NA NA 2p25.3 NA NA NA NA rs7578605 0.08 0.08 0.071 0.0736821 0.0547 0.0069 0.0865 0.1793 0.0102 0.05 0.0017 0.09 0.19 0.062 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 0.739084 NA NA 0.062485 0.141472 NA 0.087 NA 3.820815 1278 11 26563652 26563652 T G intronic ANO3 NA NA NA intronic ENSG00000134343 NA NA NA NA NA 11p14.2 NA Name=p300 Name=2 NA rs420143 0.73 0.73 0.709 0.711661 0.7028 0.8284 0.7939 0.59 0.7065 0.7 0.82 0.78 0.62 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 -0.203752 NA NA 0.732729 0.628461 NA 0.645 NA 3.820271 1278 7 157023721 157023721 T C intronic UBE3C NA NA NA intronic ENSG00000009335 NA NA NA NA NA 7q36.3 NA NA NA NA rs2301947 0.24 0.24 0.225 0.231629 0.1799 0.3909 0.2104 0.1513 0.2444 0.16 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 -0.341875 NA NA NA NA NA 0.225 NA 3.8201 1278 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 1278 17 73487731 73487731 G A intronic KIAA0195 NA NA NA intronic ENSG00000177728 NA NA NA NA NA 17q25.1 NA NA NA NA rs76509117 0.05 0.05 0.041 0.0670927 0.0765 0.0873 0.0432 0.0719 0.047 0.07 0.04 0.04 0.05 0.0475 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 0.667272 NA NA 0.056163 0.071947 NA 0.022 NA 3.819837 1278 15 89844688 89844688 A C intronic FANCI NA NA NA intronic ENSG00000140525 NA NA NA NA NA 15q26.1 NA Name=CEBPB NA NA rs2159081 0.38 0.38 0.376 0.36262 0.3946 0.3641 0.3703 0.3442 0.3476 0.41 0.36 0.36 0.37 0.3944 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287546 NA NA 0.392184 0.318409 NA 0.362 NA 3.818816 1278 17 80280890 80280890 G A intronic SECTM1 NA NA NA intronic ENSG00000141574 NA NA NA NA NA 17q25.3 NA NA NA NA rs62079492 0.03 0.03 0.032 0.0213658 0.0666 NA 0.036 0.0023 0.0123 0.06 NA 0.04 0.0041 0.0534 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 -0.643041 NA NA 0.06141 0.010677 NA 0.007 NA 3.81859 1278 2 55762832 55762832 T C intronic CCDC104 NA NA NA intronic ENSG00000163001 NA NA NA NA NA 2p16.1 NA NA NA NA rs72803515 0.03 0.03 0.019 0.0309505 0.0557 NA 0.0389 NA 0.0736 0.05 NA 0.04 NA 0.0762 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 2.289238 2.289238 NA 0.04986 0.013236 NA 0.051 NA 3.81824 1278 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 1278 4 149358014 149358014 G C UTR5 NR3C2 NM_000901:c.-2C>G,NM_001166104:c.-2C>G NA NA UTR5 ENSG00000151623 ENST00000344721:c.-2C>G,ENST00000355292:c.-2C>G,ENST00000358102:c.-2C>G,ENST00000512865:c.-2C>G,ENST00000342437:c.-2C>G NA NA Score=623;Name=lod=452 NA 4q31.23 NA NA NA NA rs2070951 0.49 0.49 0.441 0.500799 0.4901 0.7569 0.5461 0.1551 0.683 0.5 0.72 0.56 0.17 0.551 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.697108 NA NA 0.474419 0.247163 NA 0.304 NA 3.8178144 1278 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 1278 11 1094753 1094753 A C exonic MUC2 NA synonymous SNV MUC2:NM_002457:exon32:c.A5829C:p.P1943P exonic ENSG00000198788 NA synonymous SNV ENSG00000198788:ENST00000333592:exon2:c.A705C:p.P235P,ENSG00000198788:ENST00000361558:exon2:c.A255C:p.P85P,ENSG00000198788:ENST00000441003:exon31:c.A5841C:p.P1947P NA NA 11p15.5 NA NA NA NA rs10794292 0.8 0.8 0.788 0.825679 0.5954 0.9901 0.7795 0.9357 0.7771 0.59 0.99 0.72 0.93 0.6707 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 -0.102894 NA NA 0.583156 0.873216 NA 0.746 NA 3.8174106 1278 22 26777951 26777951 T G UTR3 SEZ6L NM_001184774:c.*1690T>G,NM_001184777:c.*1690T>G,NM_001184775:c.*1690T>G,NM_001184776:c.*1690T>G,NM_001184773:c.*1690T>G,NM_021115:c.*1690T>G NA NA UTR3 ENSG00000100095 ENST00000529632:c.*1690T>G,ENST00000360929:c.*1690T>G NA NA NA NA 22q12.1 NA NA NA NA rs601548 0.11 0.11 0.087 0.0872604 0.1839 0.0605 0.1167 0.0219 0.0828 0.18 0.05 0.15 0.03 0.145 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 0.327202 NA NA 0.187092 0.042808 NA 0.08 NA 3.8173414 1278 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 1278 5 53751988 53751988 T C exonic HSPB3 NA synonymous SNV HSPB3:NM_006308:exon1:c.T369C:p.G123G exonic ENSG00000169271 NA synonymous SNV ENSG00000169271:ENST00000302005:exon1:c.T369C:p.G123G NA NA 5q11.2 NA NA NA NA rs7823 0.58 0.58 0.607 0.577875 0.6352 0.376 0.4899 0.7564 0.5481 0.64 0.39 0.54 0.75 0.5918 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 -1.131838 NA NA 0.622442 0.734226 ID=COSM1132147;OCCURENCE=1(prostate) 0.543 NA 3.8172246 1278 11 8111121 8111121 C T intronic TUB NA NA NA intronic ENSG00000166402 NA NA NA NA NA 11p15.4 NA NA NA NA rs1317500 0.03 0.03 0.023 0.0371406 0.0527 NA 0.036 0.0371 0.0603 0.04 NA 0.04 0.04 0.0566 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 -0.890939 NA NA 0.073557 0.037937 NA 0.014 NA 3.817143 1278 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 1278 11 129727148 129727148 G A intronic TMEM45B NA NA NA intronic ENSG00000151715 NA NA NA NA NA 11q24.3 NA NA NA NA rs55962420 0.12 0.12 0.142 0.163339 0.1829 0.0506 0.1081 0.1717 0.2873 0.17 0.04 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 -0.181247 NA NA NA NA NA 0.196 NA 3.8171 1278 6 32183175 32183175 G A intronic NOTCH4 NA NA NA intronic ENSG00000204301 NA NA NA NA NA 6p21.32 Score=769;Name=V$TAXCREB_02 NA NA NA rs3131290 0.28 0.28 0.271 0.277556 0.3777 0.1964 0.2925 0.2005 0.3517 0.37 0.22 0.31 0.18 0.4138 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.498208 NA NA 0.391433 0.213245 NA 0.435 NA 3.817067 1278 10 103920172 103920172 T G intronic NOLC1 NA NA NA intronic ENSG00000166197 NA NA NA NA NA 10q24.32 NA NA NA NA rs17114409 0.07 0.07 0.069 0.063099 0.0646 NA 0.0576 0.149 0.0143 0.08 NA 0.07 0.13 0.0586 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.329624 NA NA 0.059884 0.124149 NA 0.094 NA 3.816916 1278 11 44096238 44096238 G A intronic ACCS NA NA NA intronic ENSG00000110455 NA NA NA NA NA 11p11.2 NA Name=PU.1 Name=5 NA rs178521 0.8 0.8 0.79 0.771166 0.7425 0.9077 0.8314 0.649 0.7822 0.76 0.94 0.79 0.7 0.7391 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 1.004565 NA NA 0.701977 0.672719 NA 0.732 NA 3.816423 1278 14 21623053 21623053 G T downstream OR5AU1 NA NA NA UTR3 ENSG00000169327 ENST00000304418:c.*43C>A NA NA NA NA 14q11.2 NA NA NA NA rs45468597 0.07 0.07 0.062 0.0623003 0.0696 0.0446 0.0692 0.0787 0.046 0.07 0.06 0.04 0.08 0.0617 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 0.104207 NA NA 0.052355 0.07276 NA 0.043 NA 3.816345 1278 1 46818502 46818502 A G intronic NSUN4 NA NA NA intronic ENSG00000117481 NA NA NA NA NA 1p33 NA NA NA NA rs41294480 0.04 0.04 0.033 0.048123 0.0616 0.0238 0.0432 0.0023 0.1247 0.06 0.03 0.04 0.01 0.0626 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 -0.665867 NA NA 0.059651 0.012937 NA 0.029 NA 3.816149 1278 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 1278 5 147856333 147856333 G A intronic HTR4 NA NA NA intronic ENSG00000164270 NA NA NA NA Name=Airflow obstruction 5q32 NA NA NA NA rs7733088 0.45 0.45 0.45 0.433906 0.3668 0.6359 0.5533 0.289 0.4059 0.38 0.61 0.53 0.3 0.4278 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.885512 NA NA 0.38931 0.317933 NA 0.312 NA 3.81609 1278 15 85438117 85438117 G A intronic SLC28A1 NA NA NA intronic ENSG00000156222 NA NA NA NA NA 15q25.3 NA NA NA NA rs61602610 0.14 0.14 NA 0.118411 0.1849 0.122 0.17 0.0651 0.0818 0.17 0.13 0.16 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 0.365698 NA NA NA NA NA NA NA 3.8151 1279 5 176963333 176963333 G C intronic FAM193B NA NA NA intronic ENSG00000146067 NA NA NA NA NA 5q35.3 NA NA NA NA rs74292777 0.1 0.1 0.097 0.0952476 0.0507 0.1667 0.0764 0.0651 0.1217 0.06 0.2 0.07 0.06 0.0848 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121911 NA NA 0.049854 0.052014 NA 0.043 NA 3.814646 1279 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 1279 16 18902172 18902172 A G intronic SMG1 NA NA NA intronic ENSG00000157106 NA NA NA NA NA 16p12.3 NA NA NA NA rs9932903 0.07 0.07 0.055 0.0750799 0.0517 NA 0.072 0.1929 0.0194 0.05 NA 0.1 0.15 0.0638 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.094103 NA NA 0.07016 0.155345 NA 0.036 NA 3.81434 1279 7 106508978 106508978 A G exonic PIK3CG NA synonymous SNV PIK3CG:NM_002649:exon2:c.A972G:p.P324P exonic ENSG00000105851 NA synonymous SNV ENSG00000105851:ENST00000359195:exon2:c.A972G:p.P324P,ENSG00000105851:ENST00000440650:exon2:c.A972G:p.P324P,ENSG00000105851:ENST00000496166:exon2:c.A972G:p.P324P NA NA 7q22.3 NA Name=SETDB1 NA NA rs849389 0.94 0.94 0.938 0.939497 0.9553 0.995 0.9582 0.8608 0.9591 0.96 1 0.94 0.86 0.949 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.988472 NA NA 0.948256 0.85724 NA 0.913 NA 3.8141106 1279 12 50484013 50484013 G A intronic SMARCD1 NA NA NA intronic ENSG00000066117 NA NA NA NA NA 12q13.12 NA NA NA NA rs73121544 0.03 0.03 0.026 0.0247604 0.0755 0.001 0.0432 0.0038 0.0123 0.06 NA 0.06 0.01 0.0478 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 1.094489 NA NA 0.062791 0.012256 NA 0.101 NA 3.813909 1279 2 56098272 56098272 G A intronic EFEMP1 NA NA NA intronic ENSG00000115380 NA NA NA NA NA 2p16.1 NA NA NA NA rs45535043 0.05 0.05 0.039 0.0377396 0.0706 NA 0.0634 0.0393 0.0225 0.08 0.0017 0.06 0.04 0.0534 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 2.423966 2.423966 NA 0.062093 0.037222 NA 0.022 NA 3.813907 1279 6 155577823 155577823 C T exonic TIAM2 NA synonymous SNV TIAM2:NM_001010927:exon13:c.C1449T:p.A483A,TIAM2:NM_012454:exon26:c.C4674T:p.A1558A exonic ENSG00000146426 NA synonymous SNV ENSG00000146426:ENST00000275246:exon13:c.C1449T:p.A483A,ENSG00000146426:ENST00000456877:exon21:c.C2610T:p.A870A,ENSG00000146426:ENST00000528391:exon22:c.C2706T:p.A902A,ENSG00000146426:ENST00000360366:exon25:c.C4746T:p.A1582A,ENSG00000146426:ENST00000529824:exon25:c.C4761T:p.A1587A,ENSG00000146426:ENST00000318981:exon26:c.C4674T:p.A1558A,ENSG00000146426:ENST00000367174:exon27:c.C2802T:p.A934A,ENSG00000146426:ENST00000456144:exon27:c.C4761T:p.A1587A,ENSG00000146426:ENST00000461783:exon29:c.C4674T:p.A1558A NA NA 6q25.3 NA NA NA NA rs1571766 0.75 0.75 0.752 0.748403 0.5954 0.9851 0.7522 0.7179 0.7004 0.6 0.98 0.73 0.71 0.6627 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 -1.787743 NA NA 0.594884 0.709714 NA 0.674 NA 3.8136826 1279 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 1279 10 119014929 119014929 C T intronic SLC18A2 NA NA NA intronic ENSG00000165646 NA NA NA NA NA 10q25.3 NA NA NA NA rs363419 0.07 0.07 0.059 0.057508 0.0596 0.1597 0.036 0.0038 0.0378 0.07 0.14 0.04 0.01 0.0613 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.366704 NA NA 0.065613 0.019216 ID=COSN163774;OCCURENCE=1(breast) 0.007 NA 3.813487 1279 8 20028895 20028895 G T intronic SLC18A1 NA NA NA intronic ENSG00000036565 NA NA NA NA NA 8p21.3 NA NA NA NA rs17222141 0.05 0.05 0.049 0.0389377 0.0676 0.0556 0.0447 0.0182 0.0164 0.07 0.05 0.05 0.02 0.0492 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 0.538179 NA NA 0.069884 0.024512 NA 0.043 NA 3.813316 1279 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 1279 4 185552135 185552135 C T intronic CASP3 NA NA NA intronic ENSG00000164305 NA NA NA NA NA 4q35.1 NA NA NA NA rs4647688 0.09 0.09 0.081 0.0792732 0.1869 NA 0.1254 0.0136 0.1063 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 0.203715 NA NA NA NA NA 0.116 NA 3.8131 1279 9 101056009 101056009 T G intronic GABBR2 NA NA NA intronic ENSG00000136928 NA NA NA NA NA 9q22.33 NA NA NA NA rs10818743 0.23 0.23 0.242 0.235024 0.1869 0.1587 0.2219 0.3843 0.1708 0.19 0.17 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 -0.895194 NA NA NA NA NA 0.29 NA 3.8131 1279 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 1279 11 26694903 26694903 C T intronic SLC5A12 NA NA NA intronic ENSG00000148942 NA NA NA NA NA 11p14.2 NA NA NA NA rs4347341 0.03 0.03 0.028 0.0231629 0.0606 NA 0.0519 0.0053 0.0123 0.06 NA 0.06 0.01 0.0567 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 0.337705 NA NA 0.07056 0.015726 NA 0.007 NA 3.81214 1279 3 128356852 128356852 C T exonic RPN1 NA synonymous SNV RPN1:NM_002950:exon3:c.G423A:p.P141P exonic ENSG00000163902 NA synonymous SNV ENSG00000163902:ENST00000296255:exon3:c.G423A:p.P141P NA NA 3q21.3 NA NA NA NA rs1697 0.65 0.65 0.649 0.634185 0.6312 0.752 0.5893 0.615 0.5736 0.63 0.77 0.59 0.6 0.6094 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 0.767767 NA NA 0.613953 0.583296 NA 0.63 NA 3.8121136 1279 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 1279 4 102942761 102942761 C T intronic BANK1 NA NA NA ncRNA_intronic ENSG00000251309 NA NA NA NA NA 4q24 NA NA NA NA rs2631261 0.35 0.35 NA 0.384185 0.2217 0.3333 0.4207 0.6694 0.1922 0.21 0.29 0.4 0.62 0.2999 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448216 NA NA NA NA NA 0.08 NA 3.8117333 1279 16 66947363 66947363 G A intronic CDH16 NA NA NA intronic ENSG00000166589 NA NA NA NA NA 16q22.1 NA NA NA NA rs8048423 0.1 0.1 0.113 0.114617 0.0656 NA 0.0605 0.3404 0.0164 0.06 NA 0.06 0.32 0.0679 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125602 NA NA 0.054767 0.2725 NA 0.138 NA 3.811733 1279 X 12628036 12628036 A C intronic FRMPD4 NA NA NA intronic ENSG00000169933 NA NA NA NA NA Xp22.2 NA NA NA NA rs2304605 0.2 0.2 0.16932 NA NA NA NA NA NA 0.05 0.27 0.23 0.32 0.1231 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419185 NA NA 0.06525 0.257888 NA 0.116 NA 3.81165 1279 9 96051521 96051521 A G exonic WNK2 NA synonymous SNV WNK2:NM_006648:exon19:c.A4485G:p.Q1495Q exonic ENSG00000165238 NA synonymous SNV ENSG00000165238:ENST00000395477:exon19:c.A4485G:p.Q1495Q,ENSG00000165238:ENST00000427277:exon19:c.A3321G:p.Q1107Q,ENSG00000165238:ENST00000297954:exon20:c.A4596G:p.Q1532Q,ENSG00000165238:ENST00000349097:exon20:c.A3432G:p.Q1144Q NA NA 9q22.31 NA NA NA NA rs2169756 0.94 0.94 0.921 0.920527 0.9573 0.999 0.9669 0.7753 0.9652 0.96 1 0.96 0.81 0.95 1 . . . . . . . . 0.999 P . . . . -1.030 T 0.000 T . 0.071 4.385 0.663 -0.120 -0.177 1.935 0.07098 NA NA 0.947965 0.822831 NA 0.913 NA 3.8114016 1279 12 56528118 56528118 A G intronic ESYT1 NA NA NA intronic ENSG00000139641 NA NA NA NA NA 12q13.2 NA NA NA NA rs2292237 0.04 0.04 0.046 0.0932508 0.0507 0.0556 0.0288 0.0121 0.3313 0.05 0.06 0.03 0.01 0.0811 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 0.381779 NA NA 0.05686 0.012937 NA 0.029 NA 3.81134 1279 12 94694872 94694872 T G intronic PLXNC1 NA NA NA intronic ENSG00000136040 NA NA NA NA NA 12q22 NA NA NA NA rs55787485 0.03 0.03 0.027 0.0233626 0.0666 NA 0.0331 0.0045 0.0215 0.07 NA 0.03 0.01 0.0502 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 1.10249 NA NA 0.07186 0.015887 NA 0.08 NA 3.81134 1279 1 247587531 247587531 A G exonic NLRP3 NA synonymous SNV NLRP3:NM_001127462:exon3:c.A786G:p.R262R,NLRP3:NM_001243133:exon3:c.A780G:p.R260R,NLRP3:NM_004895:exon3:c.A786G:p.R262R,NLRP3:NM_183395:exon3:c.A786G:p.R262R,NLRP3:NM_001127461:exon4:c.A786G:p.R262R,NLRP3:NM_001079821:exon5:c.A786G:p.R262R exonic ENSG00000162711 NA synonymous SNV ENSG00000162711:ENST00000336119:exon3:c.A786G:p.R262R,ENSG00000162711:ENST00000348069:exon3:c.A786G:p.R262R,ENSG00000162711:ENST00000366496:exon3:c.A786G:p.R262R,ENSG00000162711:ENST00000391827:exon3:c.A786G:p.R262R,ENSG00000162711:ENST00000366497:exon4:c.A786G:p.R262R,ENSG00000162711:ENST00000391828:exon5:c.A786G:p.R262R Score=439;Name=lod=81 NA 1q44 NA NA NA NA rs4925543 0.95 0.95 0.938 0.919928 0.9592 0.998 0.951 0.8434 0.8804 0.96 1 0.94 0.88 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 -0.626455 NA NA 0.953605 0.850885 NA 0.942 NA 3.8112616 1279 14 25288212 25288212 A C intronic STXBP6 NA NA NA intronic ENSG00000168952 NA NA NA NA NA 14q12 NA NA NA NA rs71405872 0.06 0.06 0.064 0.053115 0.0716 0.001 0.0461 0.1112 0.0143 0.06 0.0017 0.06 0.14 0.0523 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.444419 1.444419 NA 0.064884 0.109396 NA 0.051 NA 3.811216 1279 22 36587952 36587952 C T exonic APOL4 NA unknown UNKNOWN exonic ENSG00000100336 NA synonymous SNV ENSG00000100336:ENST00000352371:exon5:c.G225A:p.E75E,ENSG00000100336:ENST00000404685:exon5:c.G225A:p.E75E,ENSG00000100336:ENST00000429038:exon5:c.G216A:p.E72E,ENSG00000100336:ENST00000332987:exon6:c.G216A:p.E72E,ENSG00000100336:ENST00000405511:exon6:c.G216A:p.E72E,ENSG00000100336:ENST00000457630:exon6:c.G216A:p.E72E NA NA 22q12.3 NA NA NA NA rs2227169 0.61 0.61 0.623 0.642572 0.4851 0.8244 0.5231 0.7277 0.5869 0.45 0.81 0.56 0.69 0.5394 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 -0.641114 NA NA 0.497618 0.669129 NA 0.558 NA 3.8112153 1279 8 2033579 2033579 A G intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs59220531 0.3 0.3 0.281 0.357029 0.1889 0.377 0.3285 0.4017 0.4693 0.19 0.39 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 -0.804999 NA NA NA NA NA 0.101 NA 3.8111 1279 11 116693353 116693353 C T intronic APOA4 NA NA NA intronic ENSG00000110244 NA NA NA NA NA 11q23.3 NA NA NA NA rs2239013 0.06 0.06 0.061 0.063099 0.0656 0.0437 0.0447 0.0431 0.1207 0.06 0.06 0.06 0.05 0.0621 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 -0.586545 NA NA 0.061569 0.045888 NA 0.058 NA 3.810731 1279 10 72490053 72490053 C T intronic ADAMTS14 NA NA NA intronic ENSG00000138316 NA NA NA NA NA 10q22.1 NA NA NA NA rs41313842 0.04 0.04 0.046 0.0423323 0.0765 0.001 0.0259 0.0272 0.0818 0.08 NA 0.02 0.03 0.0559 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 0.547114 NA NA 0.057791 0.021562 NA 0.145 NA 3.809809 1279 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 1279 14 93173010 93173010 C T intronic LGMN NA NA NA intronic ENSG00000100600 NA NA NA NA NA 14q32.12 NA NA NA NA rs17128502 0.08 0.08 0.085 0.0806709 0.0527 0.1052 0.049 0.0613 0.1329 0.06 0.11 0.06 0.08 0.075 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 0.198114 NA NA 0.062558 0.080118 NA 0.058 NA 3.809742 1279 1 248129689 248129689 G T intronic OR2L13 NA NA NA intronic ENSG00000196071 NA NA NA NA NA 1q44 NA NA NA NA rs78182622 0.04 0.04 0.027 0.0479233 0.0537 NA 0.1412 0.0015 0.0879 0.06 NA 0.1 NA 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 -0.675358 NA NA 0.072359 0.013649 NA 0.007 NA 3.809441 1279 11 117053433 117053433 C A intronic SIDT2 NA NA NA intronic ENSG00000149577 NA NA NA NA NA 11q23.3 NA NA NA NA rs2046150 0.08 0.08 0.095 0.0980431 0.0596 0.0823 0.0504 0.1536 0.1125 0.06 0.1 0.04 0.13 0.0765 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53615 NA NA 0.054586 0.148114 NA 0.08 NA 3.809314 1279 22 50876526 50876526 C G intronic PPP6R2 NA NA NA intronic ENSG00000100239 NA NA NA NA NA 22q13.33 NA NA NA NA rs11091018 0.15 0.15 0.137 0.13758 0.1909 0.1419 0.2089 0.0287 0.1748 0.19 0.14 0.21 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 -0.125016 NA NA NA NA NA 0.145 NA 3.8091 1279 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 1279 11 119056681 119056681 G C intronic PDZD3 NA NA NA intronic ENSG00000172367 NA NA NA NA NA 11q23.3 NA NA NA NA rs45612531 0.05 0.05 0.031 0.0439297 0.0656 0.001 0.17 0.0068 0.0266 0.07 0.0017 0.14 0.01 0.0634 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.92706 NA NA 0.062515 0.015909 NA 0.007 NA 3.808485 1279 10 99019177 99019177 A G exonic ARHGAP19 NA synonymous SNV ARHGAP19:NM_001204300:exon5:c.T822C:p.H274H,ARHGAP19:NM_001256423:exon5:c.T795C:p.H265H,ARHGAP19:NM_032900:exon5:c.T822C:p.H274H exonic ENSG00000213390,ENSG00000269891 NA synonymous SNV ENSG00000269891:ENST00000316676:exon5:c.T822C:p.H274H,ENSG00000213390:ENST00000355366:exon5:c.T795C:p.H265H,ENSG00000269891:ENST00000358308:exon5:c.T822C:p.H274H,ENSG00000213390:ENST00000358531:exon5:c.T822C:p.H274H,ENSG00000213390:ENST00000371027:exon5:c.T795C:p.H265H,ENSG00000269891:ENST00000453547:exon5:c.T822C:p.H274H,ENSG00000269891:ENST00000479633:exon5:c.T822C:p.H274H Score=681;Name=lod=782 NA 10q24.1 NA NA NA NA rs2253301 0.88 0.88 0.878 0.844449 0.9692 0.8095 0.9337 0.7368 0.8344 0.97 0.83 0.94 0.75 0.9203 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 0.812197 NA NA 0.968721 0.764412 NA 0.819 NA 3.8084456 1279 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 1279 1 1425816 1425816 G A intronic ATAD3B NA NA NA intronic ENSG00000160072 NA NA NA NA NA 1p36.33 NA NA NA NA rs149187984 0.08 0.08 0.078 0.0788738 0.0577 0.128 0.0908 0.0371 0.0982 0.06 0.13 0.11 0.04 0.0781 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.094495 NA NA 0.05584 0.032683 NA 0.058 NA 3.80836 1279 6 167550042 167550042 C T exonic CCR6 NA synonymous SNV CCR6:NM_004367:exon3:c.C324T:p.T108T,CCR6:NM_031409:exon3:c.C324T:p.T108T exonic ENSG00000112486 NA synonymous SNV ENSG00000112486:ENST00000341935:exon3:c.C324T:p.T108T,ENSG00000112486:ENST00000400926:exon3:c.C324T:p.T108T,ENSG00000112486:ENST00000349984:exon4:c.C324T:p.T108T NA NA 6q27 NA NA NA NA rs2071171 0.55 0.55 0.534 0.557907 0.6203 0.5437 0.7075 0.4092 0.6033 0.6 0.52 0.68 0.43 0.6117 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.277895 NA NA 0.626512 0.435315 NA 0.659 NA 3.8081546 1279 1 204438334 204438334 C T exonic PIK3C2B NA synonymous SNV PIK3C2B:NM_002646:exon3:c.G597A:p.P199P exonic ENSG00000133056 NA synonymous SNV ENSG00000133056:ENST00000367187:exon3:c.G597A:p.P199P,ENSG00000133056:ENST00000424712:exon3:c.G597A:p.P199P NA NA 1q32.1 NA Name=CEBPB NA NA rs1124777 0.77 0.77 0.726 0.728035 0.9841 0.8194 0.8948 0.2413 0.91 0.99 0.81 0.89 0.28 0.8916 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 -1.502937 NA NA 0.982907 0.374262 NA 0.71 NA 3.8080596 1279 17 7406049 7406049 C T intronic POLR2A NA NA NA intronic ENSG00000181222 NA NA NA NA NA 17p13.1 NA NA NA NA rs9910214 0.04 0.04 0.037 0.0311502 0.0765 NA 0.0605 0.0023 0.0348 0.07 NA 0.06 0.01 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 -0.289908 NA NA 0.062209 0.01271 NA NA NA 3.807491 1279 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 1279 16 77228866 77228866 T C exonic MON1B NA synonymous SNV MON1B:NM_014940:exon4:c.T1110C:p.V370V exonic ENSG00000103111 NA synonymous SNV ENSG00000103111:ENST00000545553:exon2:c.T672C:p.V224V,ENSG00000103111:ENST00000439557:exon3:c.T783C:p.V261V,ENSG00000103111:ENST00000248248:exon4:c.T1110C:p.V370V NA NA 16q23.1 NA NA NA NA rs2232504 0.75 0.75 0.736 0.778754 0.5835 0.8651 0.755 0.9107 0.729 0.58 0.84 0.74 0.9 0.6785 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 0.546984 NA NA 0.597442 0.865105 NA 0.739 NA 3.8072246 1279 10 102275780 102275780 A G intronic SEC31B NA NA NA intronic ENSG00000075826,ENSG00000166136,ENSG00000255339 NA NA NA NA NA 10q24.31 NA NA NA NA rs3750630 0.2 0.2 0.2 0.200879 0.1928 0.131 0.1902 0.2542 0.2168 0.21 0.16 0.2 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 0.460435 NA NA NA NA NA 0.123 NA 3.8072 1279 20 17622385 17622385 G A intronic RRBP1 NA NA NA intronic ENSG00000125844 NA NA NA NA NA 20p12.1 NA NA NA NA rs35748180 0.09 0.09 0.069 0.067492 0.1928 0.001 0.0879 0.0083 0.0726 0.19 NA 0.09 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 0.078521 NA NA NA NA NA 0.145 NA 3.8072 1279 2 196791276 196791276 T G exonic DNAH7 NA synonymous SNV DNAH7:NM_018897:exon22:c.A3486C:p.A1162A exonic ENSG00000118997 NA synonymous SNV ENSG00000118997:ENST00000312428:exon22:c.A3486C:p.A1162A NA NA 2q32.3 NA NA NA NA rs1489802 0.5 0.5 0.484 0.480032 0.6471 0.5635 0.5764 0.093 0.6769 0.66 0.59 0.54 0.11 0.5893 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 0.334743 NA NA 0.623069 0.182745 NA 0.457 NA 3.8071976 1279 2 174231184 174231184 C T intronic CDCA7 NA NA NA intronic ENSG00000144354 NA NA NA NA NA 2q31.1 NA NA NA NA rs62175733 0.06 0.06 0.044 0.0692891 0.0547 0.1121 0.0403 0.031 0.1125 0.06 0.1 0.03 0.03 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 3.124692 3.124692 NA 0.063256 0.036541 NA 0.022 NA 3.807044 1279 3 17131421 17131421 C T UTR3 PLCL2 NM_001144382:c.*17C>T,NM_015184:c.*17C>T NA NA UTR3 ENSG00000154822 ENST00000418129:c.*17C>T,ENST00000432376:c.*17C>T NA NA NA NA 3p24.3 NA NA NA NA rs35185988 0.09 0.09 0.085 0.0688898 0.2038 0.0119 0.072 0.0121 0.0634 0.21 0.0035 0.08 0.02 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 -0.609197 NA NA 0.177791 0.041761 NA 0.196 NA 3.8069424 1279 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 1279 20 30460869 30460869 T C intronic TTLL9 NA NA NA intronic ENSG00000131044 NA NA NA NA NA 20q11.21 NA NA NA NA rs6058475 0.12 0.12 0.124 0.128195 0.0507 0.001 0.1412 0.3457 0.0358 0.05 0.0017 0.14 0.33 0.082 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.805045 2.805045 NA 0.060522 0.299087 NA 0.123 NA 3.806778 1279 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 1279 18 59814268 59814268 G A exonic PIGN NA synonymous SNV PIGN:NM_012327:exon8:c.C741T:p.H247H,PIGN:NM_176787:exon9:c.C741T:p.H247H exonic ENSG00000197563 NA synonymous SNV ENSG00000197563:ENST00000589414:exon2:c.C192T:p.H64H,ENSG00000197563:ENST00000588748:exon6:c.C510T:p.H170H,ENSG00000197563:ENST00000400334:exon8:c.C741T:p.H247H,ENSG00000197563:ENST00000357637:exon9:c.C741T:p.H247H NA NA 18q21.33 NA NA NA NA rs9320000 0.6 0.6 0.55 0.590655 0.6252 0.6974 0.683 0.3835 0.6595 0.62 0.69 0.68 0.41 0.6135 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 -0.039019 NA NA 0.621572 0.453653 NA 0.652 NA 3.8063946 1279 4 7714640 7714640 C G intronic SORCS2 NA NA NA intronic ENSG00000184985 NA NA NA NA NA 4p16.1 NA NA NA NA rs2285783 0.26 0.26 0.256 0.299321 0.1938 0.5208 0.1888 0.1377 0.4765 0.18 0.49 0.2 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 -0.231995 NA NA NA NA NA 0.217 NA 3.8062 1279 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 1279 22 36922205 36922205 C T intronic EIF3D NA NA NA intronic ENSG00000100353 NA NA NA NA NA 22q12.3 NA NA NA NA rs7364189 0.04 0.04 0.037 0.058107 0.0577 0.002 0.049 0.0825 0.09 0.05 NA 0.07 0.07 0.0633 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 -0.022964 NA NA 0.072907 0.085111 NA 0.043 NA 3.806093 1279 16 347257 347257 G T intronic AXIN1 NA NA NA intronic ENSG00000103126 NA NA NA NA NA 16p13.3 NA NA NA NA rs117820439 0.03 0.03 0.019 0.0253594 0.0646 NA 0.049 0.0023 0.0256 0.07 NA 0.05 0.0041 0.0514 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 -0.007467 NA NA 0.078256 0.012483 NA 0.014 NA 3.805744 1279 3 164059123 164059123 G A intergenic CT64,SI dist=1038034;dist=637563 NA NA upstream ENSG00000221755 NA NA NA NA NA 3q26.1 NA NA Name=2 NA rs76722974 0.23 0.23 0.196 0.233826 0.1968 0.4335 0.281 0.034 0.3027 0.19 0.44 0.26 0.03 0.3003 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351611 NA NA 0.197265 0.066987 NA 0.297 NA 3.805635 1279 1 230903234 230903234 A G intronic CAPN9 NA NA NA ncRNA_intronic ENSG00000244137 NA NA NA NA NA 1q42.2 NA NA NA NA rs11122590 0.56 0.56 0.557 0.555112 0.5278 0.5506 0.5259 0.6331 0.5031 0.54 0.55 0.52 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 0.140338 NA NA NA NA NA 0.5 NA 3.8055333 1279 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 1279 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 1280 15 40556953 40556953 G A intronic PAK6 NA NA NA intronic ENSG00000137843,ENSG00000259288 NA NA NA NA NA 15q15.1 NA NA NA NA rs2277564 0.13 0.13 NA 0.173522 0.0865 0.1409 0.0764 0.298 0.1973 0.07 0.14 0.09 0.24 0.1087 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.893224 NA NA NA NA NA NA NA 3.8048 1280 16 1866873 1866873 C T intronic HAGH NA NA NA intronic ENSG00000063854 NA NA NA NA NA 16p13.3 NA NA NA NA rs11862755 0.06 0.06 0.071 0.0654952 0.0646 0.1171 0.0259 0.028 0.092 0.06 0.11 0.03 0.03 0.0664 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 0.097973 NA NA 0.064302 0.035016 NA 0.043 NA 3.804698 1280 15 40556952 40556952 A C intronic PAK6 NA NA NA intronic ENSG00000137843,ENSG00000259288 NA NA NA NA NA 15q15.1 NA NA NA NA rs2277563 0.13 0.13 NA 0.17472 0.0865 0.1458 0.0764 0.298 0.1984 0.07 0.14 0.09 0.23 0.1089 0.23 NA NA 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 NA NA NA NA NA 3.8046 1280 X 122528803 122528803 T C intronic GRIA3 NA NA NA intronic ENSG00000125675 NA NA NA NA NA Xq25 NA NA Name=6 NA rs550640 0.59 0.59 0.5779 NA NA NA NA NA NA 0.63 0.7 0.59 0.41 0.5844 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 2.375488 2.375488 NA 0.611177 0.414342 NA 0.42 NA 3.804423 1280 17 1578032 1578032 A G intronic PRPF8 NA NA NA intronic ENSG00000174231 NA NA NA NA NA 17p13.3 NA NA NA NA rs8070091 0.24 0.24 0.262 0.261981 0.1958 0.0903 0.1441 0.5893 0.1483 0.19 0.07 0.14 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 -0.220236 NA NA NA NA NA 0.283 NA 3.8042 1280 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 1280 17 72952017 72952017 A G exonic HID1 NA synonymous SNV HID1:NM_030630:exon13:c.T1506C:p.T502T exonic ENSG00000167861 NA synonymous SNV ENSG00000167861:ENST00000425042:exon13:c.T1506C:p.T502T NA NA 17q25.1 Score=918;Name=V$AP1FJ_Q2 NA NA NA rs9906160 0.94 0.94 0.918 0.920727 0.9642 1 0.9683 0.7874 0.9407 0.96 1 0.97 0.81 0.9453 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.946311 NA NA 0.953488 0.814798 NA 0.884 NA 3.8036786 1280 17 76557862 76557862 T C exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon12:c.A1770G:p.K590K exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon12:c.A1770G:p.K590K,ENSG00000187775:ENST00000585328:exon12:c.A1770G:p.K590K Score=533;Name=lod=195 NA 17q25.3 NA NA NA NA rs894966 0.94 0.94 0.936 0.940096 0.9573 0.9236 0.9582 0.9357 0.9325 0.96 0.91 0.97 0.93 0.9462 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 1.438655 1.438655 NA 0.959535 0.934862 NA 0.971 NA 3.8036316 1280 2 85662017 85662017 G A UTR5 SH2D6 NM_198482:c.-62G>A NA NA UTR5 ENSG00000152292 ENST00000340326:c.-62G>A NA NA NA NA 2p11.2 NA NA NA NA rs2271628 0.5 0.5 0.523 0.464657 0.5298 0.3512 0.3386 0.6611 0.3384 0.53 0.37 0.39 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 0.536768 NA NA NA NA NA 0.486 NA 3.8035334 1280 21 43557494 43557494 A G intronic UMODL1 NA NA NA intronic ENSG00000177398 NA NA NA NA NA 21q22.3 NA NA NA NA rs3819140 0.15 0.15 0.137 0.114417 0.1968 0.1567 0.1268 0.0272 0.0951 0.19 0.18 0.17 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 -0.209749 NA NA NA NA ID=COSN166661;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.087 NA 3.8032 1280 17 73500288 73500288 G T intronic CASKIN2 NA NA NA intronic ENSG00000177303 NA NA NA NA NA 17q25.1 NA NA NA NA rs112890467 0.07 0.07 0.067 0.0694888 0.0944 NA 0.0605 0.0961 0.0859 0.09 NA 0.09 0.11 0.0049 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 1.394046 1.394046 NA 0.097524 0.107848 NA 0.072 NA 3.803176 1280 20 36959436 36959436 T G intronic BPI NA NA NA intronic ENSG00000101425 NA NA NA NA NA 20q11.23 NA NA NA NA rs5743535 0.05 0.05 0.047 0.0623003 0.0626 0.1081 0.0216 NA 0.1278 0.07 0.08 0.02 NA 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 0.380398 NA NA 0.065 0.01498 NA 0.014 NA 3.8029 1280 10 104164488 104164488 G A intronic PSD NA NA NA intronic ENSG00000059915 NA NA NA NA NA 10q24.32 NA NA NA NA rs41287460 0.08 0.08 0.075 0.071885 0.0616 NA 0.0764 0.1747 0.0143 0.07 NA 0.09 0.17 0.0659 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39443 NA NA 0.069651 0.150477 NA 0.123 NA 3.802849 1280 11 125482650 125482650 G A intronic STT3A NA NA NA intronic ENSG00000134910 NA NA NA NA NA 11q24.2 NA NA NA NA rs80101840 0.06 0.06 0.058 0.057508 0.0706 0.002 0.0461 0.1104 0.0378 0.07 NA 0.05 0.13 0.0598 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.575383 NA NA 0.06676 0.093139 NA 0.08 NA 3.80284 1280 11 68133035 68133035 T C intronic LRP5 NA NA NA intronic ENSG00000162337 NA NA NA NA NA 11q13.2 NA NA Name=5 NA rs314776 0.39 0.39 0.36 0.403155 0.4125 0.1161 0.4841 0.7496 0.1636 0.38 0.11 0.44 0.69 0.3765 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 -0.765835 NA NA 0.408223 0.679545 NA 0.572 NA 3.802777 1280 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 1280 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 1280 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 1280 8 61193588 61193588 C T intronic CA8 NA NA NA intronic ENSG00000178538 NA NA NA NA NA 8q12.1 NA Name=ZBTB7A_(SC-34508) NA NA rs10086200 0.39 0.39 0.359 0.408147 0.4056 0.2688 0.3516 0.5303 0.4294 0.41 0.28 0.36 0.5 0.3969 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.79387 NA NA 0.395349 0.483842 NA 0.058 NA 3.802151 1280 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 1280 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 1280 2 44036913 44036913 T C UTR3 DYNC2LI1 NM_001193464:c.*7T>C,NM_016008:c.*7T>C NA NA UTR3 ENSG00000138036 ENST00000260605:c.*7T>C,ENST00000443170:c.*7T>C,ENST00000605786:c.*7T>C NA NA NA NA 2p21 NA NA NA NA rs8302 0.16 0.16 0.158 0.179513 0.167 0.0238 0.1513 0.2973 0.2137 0.16 0.03 0.19 0.3 0.1895 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.289635 3.289635 NA 0.175518 0.263062 NA 0.225 NA 3.8013154 1280 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 1280 11 125546413 125546413 A T intronic ACRV1 NA NA NA intronic ENSG00000134940 NA NA NA NA NA 11q24.2 NA NA NA NA rs76133534 0.06 0.06 0.064 0.0623003 0.0706 0.002 0.0476 0.1286 0.0368 0.07 NA 0.05 0.14 0.0615 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.355718 NA NA 0.066643 0.11313 NA 0.08 NA 3.801257 1280 12 10959031 10959031 C T exonic TAS2R8 NA synonymous SNV TAS2R8:NM_023918:exon1:c.G549A:p.L183L exonic ENSG00000121314 NA synonymous SNV ENSG00000121314:ENST00000240615:exon1:c.G549A:p.L183L NA NA 12p13.2 NA NA NA NA rs1548803 0.54 0.54 0.505 0.503994 0.6789 0.6448 0.5692 0.1641 0.592 0.68 0.65 0.59 0.19 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 -0.225752 NA NA 0.603488 0.232864 NA 0.435 NA 3.8008786 1280 15 51675625 51675625 C T intronic GLDN NA NA NA intronic ENSG00000186417 NA NA NA Score=463;Name=lod=102 NA 15q21.2 NA NA NA NA rs2445738 0.54 0.54 0.567 0.57508 0.3966 0.4583 0.5476 0.9236 0.4274 0.39 0.48 0.46 0.92 0.4299 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 0.959019 NA NA 0.3727 0.823543 NA 0.536 NA 3.8008 1280 2 27599132 27599132 G A intronic SNX17 NA NA NA intronic ENSG00000115234 NA NA NA NA NA 2p23.3 NA NA Name=6 NA rs12475426 0.41 0.41 0.421 0.463658 0.3847 0.1657 0.4856 0.7587 0.4376 0.4 0.14 0.43 0.75 0.4262 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 -1.814424 NA NA 0.388372 0.690195 NA 0.623 NA 3.800728 1280 9 14804943 14804943 A G intronic FREM1 NA NA NA intronic ENSG00000164946 NA NA NA NA NA 9p22.3 NA NA NA NA rs72614223 0.11 0.11 0.083 0.0922524 0.0606 0.2312 0.1239 0.0348 0.0368 0.06 0.24 0.1 0.04 0.0798 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600638 NA NA 0.05909 0.036354 NA 0.029 NA 3.80051 1280 2 120125689 120125689 A T intronic DBI NA NA NA intronic ENSG00000155368 NA NA NA NA NA 2q14.2 NA NA NA NA rs8192503 0.18 0.18 0.179 0.160343 0.1998 0.2173 0.1527 0.121 0.1196 0.19 0.23 0.15 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 0.010475 NA NA NA NA NA 0.145 NA 3.8002 1280 14 60616914 60616914 C A intronic DHRS7 NA NA NA intronic ENSG00000100612,ENSG00000126773 NA NA NA NA NA 14q23.1 NA NA NA NA rs201920626 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.2002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.414699 NA NA NA NA NA NA NA 3.7998 1280 11 125465905 125465905 G T intronic STT3A NA NA NA intronic ENSG00000134910 NA NA NA NA NA 11q24.2 NA NA NA NA rs79017058 0.06 0.06 0.06 0.0583067 0.0736 0.002 0.0476 0.1104 0.0378 0.07 NA 0.05 0.13 0.0599 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.195808 NA NA 0.066992 0.092004 NA 0.087 NA 3.799508 1280 9 130486384 130486384 C T intronic TTC16 NA NA NA intronic ENSG00000167094,ENSG00000187024 NA NA NA NA NA 9q34.11 NA NA Name=8 NA rs836333 0.52 0.52 NA 0.542532 0.5944 0.2927 0.5821 0.6051 0.6339 0.6 0.3 0.57 0.62 0.6064 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157456 NA NA NA NA NA 0.087 NA 3.7992 1280 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 1280 17 72948369 72948369 A G exonic HID1 NA synonymous SNV HID1:NM_030630:exon17:c.T2139C:p.I713I exonic ENSG00000167861 NA synonymous SNV ENSG00000167861:ENST00000425042:exon17:c.T2139C:p.I713I Score=561;Name=lod=253 NA 17q25.1 NA NA NA NA rs17853024 0.97 0.97 0.964 0.954872 0.9622 1 0.9827 0.9107 0.9407 0.96 1 0.99 0.92 0.9533 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.888279 NA NA 0.952547 0.917839 NA 0.964 NA 3.7986196 1280 19 11113997 11113997 G T intronic SMARCA4 NA NA NA intronic ENSG00000127616 NA NA NA NA NA 19p13.2 NA NA NA NA rs74942410 0.05 0.05 0.058 0.0609026 0.0676 0.0427 0.0346 0.0552 0.0992 0.07 0.03 0.05 0.07 0.0675 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 -0.602151 NA NA 0.066395 0.04857 NA 0.051 NA 3.798505 1280 1 103381129 103381129 C T intronic COL11A1 NA NA NA intronic ENSG00000060718 NA NA NA NA NA 1p21.1 NA NA NA NA rs4908273 0.13 0.13 0.135 0.151957 0.0964 0.2123 0.0821 0.1316 0.2239 0.1 0.2 0.09 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 0.222806 NA NA 0.10528 0.141618 NA 0.116 NA 3.79832 1280 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 1280 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 1280 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 1280 1 161559327 161559327 A G intronic FCGR2C NA NA NA intronic ENSG00000072694,ENSG00000203747,ENSG00000244682 NA NA NA NA NA 1q23.3 NA Name=ZNF263 Name=3 NA rs3933769 0.72 0.72 0.7 0.702476 0.7376 0.7341 0.7896 0.5779 0.7403 0.72 0.79 0.79 0.61 0.7391 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 -0.168625 NA NA 0.725904 0.599675 NA 0.71 NA 3.797396 1280 9 38395940 38395940 T C exonic ALDH1B1 NA synonymous SNV ALDH1B1:NM_000692:exon2:c.T195C:p.I65I exonic ENSG00000137124 NA synonymous SNV ENSG00000137124:ENST00000377698:exon2:c.T195C:p.I65I NA NA 9p13.2 Score=846;Name=V$MYCMAX_01 NA NA NA rs2228094 0.93 0.93 0.928 0.936701 0.9612 1 0.9553 0.82 0.9908 0.96 1 0.94 0.8 0.9542 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203556 NA NA 0.95407 0.855878 NA 0.92 NA 3.7971966 1280 10 5140980 5140980 T C intronic AKR1C3 NA NA NA intronic ENSG00000196139 NA NA NA NA NA 10p15.1 NA NA NA NA rs34140485 0.05 0.05 0.047 0.0461262 0.0845 0.001 0.0663 0.0628 0.0164 0.08 0.0017 0.07 0.06 0.0545 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 1.788712 1.788712 NA 0.063953 0.057195 NA 0.138 NA 3.797047 1280 11 103057048 103057048 A G exonic DYNC2H1 NA synonymous SNV DYNC2H1:NM_001080463:exon42:c.A6711G:p.R2237R,DYNC2H1:NM_001377:exon42:c.A6711G:p.R2237R exonic ENSG00000187240 NA synonymous SNV ENSG00000187240:ENST00000375735:exon42:c.A6711G:p.R2237R,ENSG00000187240:ENST00000398093:exon42:c.A6711G:p.R2237R NA NA 11q22.3 NA NA NA NA rs658804 0.58 0.58 0.551 0.571486 0.6223 0.5526 0.67 0.4985 0.5675 0.62 0.53 0.66 0.52 0.6204 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 -1.209374 NA NA 0.626922 0.532994 NA 0.536 NA 3.7970446 1280 10 128830381 128830381 C T intronic DOCK1 NA NA NA intronic ENSG00000150760 NA NA NA NA NA 10q26.2 NA NA NA NA rs61873978 0.04 0.04 0.036 0.0277556 0.0656 NA 0.0346 0.028 0.0123 0.07 NA 0.04 0.04 0.0718 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 -1.421177 NA NA 0.065564 0.033513 NA 0.029 NA 3.797036 1280 19 17440871 17440871 G T intronic ANO8 NA NA NA intronic ENSG00000074855 NA NA NA NA NA 19p13.11 NA NA NA NA rs75728808 0.03 0.03 0.024 0.0219649 0.0696 NA 0.036 0.003 0.0112 0.07 NA 0.05 0.01 0.059 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 0.432792 NA NA 0.074436 0.015887 NA 0.014 NA 3.796964 1280 20 6100241 6100241 A G intronic FERMT1 NA NA NA intronic ENSG00000101311 NA NA NA NA NA 20p12.3 NA NA NA NA rs2273422 0.17 0.17 0.161 0.168331 0.0467 0.4683 0.1844 0.0424 0.1431 0.04 0.49 0.14 0.03 0.1059 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.548156 NA NA 0.050581 0.045847 NA 0.109 NA 3.796819 1280 X 9859098 9859098 A G exonic SHROOM2 NA synonymous SNV SHROOM2:NM_001649:exon3:c.A399G:p.P133P exonic ENSG00000146950 NA synonymous SNV ENSG00000146950:ENST00000380913:exon3:c.A399G:p.P133P NA NA Xp22.2 NA NA NA NA rs6640543 0.89 0.89 0.88235 NA NA NA NA NA NA 0.93 1 0.91 0.67 0.9304 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385244 NA NA 0.939489 0.670404 NA 0.601 NA 3.7967776 1280 17 79653321 79653321 T C intronic HGS NA NA NA intronic ENSG00000185359 NA NA NA NA NA 17q25.3 NA NA NA NA rs72858893 0.11 0.11 0.116 0.0990415 0.0696 0.2272 0.0476 0.0613 0.0849 0.07 0.22 0.04 0.07 0.0736 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.328756 NA NA 0.060116 0.05548 NA 0.13 NA 3.796684 1280 11 126081336 126081336 T C intronic RPUSD4 NA NA NA UTR5 ENSG00000197798 ENST00000533050:c.-23561T>C NA NA NA NA 11q24.2 NA Name=EBF,FOXA2_(SC-6554),EBF1_(C-8),NFKB,TAF1,Pol2,FOXA1_(C-20),TAF7_(SQ-8) Name=59 NA rs587891 0.87 0.87 0.869 0.885583 0.7753 0.998 0.853 0.8684 0.9294 0.78 1 0.83 0.87 0.8237 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729303 NA NA 0.77111 0.854612 NA 0.841 NA 3.7965567 1280 22 36919343 36919343 A G intronic EIF3D NA NA NA intronic ENSG00000100353 NA NA NA NA NA 22q12.3 NA NA NA NA rs8140240 0.06 0.06 0.055 0.0746805 0.0596 0.002 0.0562 0.1399 0.09 0.05 NA 0.08 0.13 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 0.938683 NA NA 0.074651 0.135951 NA 0.058 NA 3.796249 1280 4 121961031 121961031 A G intronic NDNF NA NA NA intronic ENSG00000173376 NA NA NA NA NA 4q27 NA NA NA NA rs3775914 0.2 0.2 0.169 0.227636 0.2038 0.2351 0.3372 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 0.320733 NA NA NA NA NA 0.174 NA 3.7962 1280 8 70964399 70964399 A G exonic PRDM14 NA synonymous SNV PRDM14:NM_024504:exon8:c.T1629C:p.D543D exonic ENSG00000147596 NA synonymous SNV ENSG00000147596:ENST00000276594:exon8:c.T1629C:p.D543D NA NA 8q13.3 NA NA NA NA rs10089937 0.64 0.64 0.617 0.645767 0.6143 0.7302 0.6037 0.5847 0.7035 0.61 0.72 0.6 0.62 0.6288 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49044 NA NA 0.627791 0.613028 NA 0.616 NA 3.7957756 1280 5 145522926 145522926 A C intronic LARS NA NA NA intronic ENSG00000133706 NA NA NA NA NA 5q32 NA NA NA NA rs17104276 0.04 0.04 0.045 0.0413339 0.0726 NA 0.0317 0.0537 0.0419 0.08 NA 0.04 0.04 0.0576 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 -0.013565 NA NA 0.074535 0.053109 NA 0.051 NA 3.795265 1280 1 24122986 24122986 C T intronic GALE NA NA NA intronic ENSG00000117308 NA NA NA NA NA 1p36.11 NA NA NA NA rs760941 0.56 0.56 0.565 NA NA NA NA NA NA 0.6 0.59 0.61 0.43 0.6309 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23315 NA NA 0.573854 0.458901 NA 0.616 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078694.1;CLNDSDB=.;CLNDSDBID=. 3.795246 1281 15 90248819 90248819 A T exonic WDR93 NA synonymous SNV WDR93:NM_020212:exon4:c.A531T:p.G177G exonic ENSG00000140527 NA synonymous SNV ENSG00000140527:ENST00000268130:exon4:c.A531T:p.G177G,ENSG00000140527:ENST00000560294:exon4:c.A531T:p.G177G NA NA 15q26.1 NA NA NA NA rs17238056 0.51 0.51 0.512 0.535942 0.6183 0.2073 0.5058 0.6815 0.6145 0.61 0.22 0.56 0.64 0.5892 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.204837 NA NA 0.664224 0.681136 NA 0.761 NA 3.7949426 1281 5 145547839 145547839 T C intronic LARS NA NA NA intronic ENSG00000133706 NA NA NA NA NA 5q32 NA NA NA NA rs72822293 0.04 0.04 0.047 0.0425319 0.0726 NA 0.0317 0.0582 0.0419 0.08 NA 0.04 0.04 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 1.66148 1.66148 NA 0.074651 0.055379 NA 0.051 NA 3.794649 1281 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 1281 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 1281 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 1281 5 147027930 147027930 A G ncRNA_intronic JAKMIP2-AS1 NA NA NA intronic ENSG00000176049 NA NA NA NA NA 5q32 NA NA NA NA rs7735403 0.34 0.34 0.315 0.345847 0.168 0.4871 0.2709 0.5144 0.2086 0.17 0.47 0.26 0.5 0.2222 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.995997 1.995997 NA 0.149139 0.436904 NA 0.37 NA 3.7939943 1281 9 131028226 131028226 G A intronic GOLGA2 NA NA NA intronic ENSG00000167110 NA NA NA NA NA 9q34.11 NA NA NA NA rs12345218 0.11 0.11 0.099 0.117412 0.0577 0.25 0.1225 0.0348 0.1503 0.06 0.25 0.1 0.05 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 0.530134 NA NA 0.055116 0.04562 NA 0.043 NA 3.793984 1281 2 85925680 85925680 T G intronic GNLY NA NA NA intronic ENSG00000115523 NA NA NA NA NA 2p11.2 NA NA Name=8 NA rs4240202 0.47 0.47 0.455 0.457069 0.4046 0.5923 0.4337 0.4773 0.3609 0.41 0.58 0.43 0.46 0.4182 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483954 NA NA 0.383256 0.498865 NA 0.522 NA 3.793944 1281 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 1281 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 1281 6 131902329 131902329 G A intronic ARG1,MED23 NA NA NA intronic ENSG00000112282,ENSG00000118520 NA NA NA NA NA 6q23.2 NA NA NA NA rs41285336 0.03 0.03 0.021 0.0227636 0.0736 NA 0.0274 0.0008 0.0204 0.07 NA 0.03 NA 0.0524 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 1.019914 NA NA 0.080233 0.01566 NA 0.029 NA 3.793767 1281 11 67068859 67068859 T C exonic ANKRD13D NA synonymous SNV ANKRD13D:NM_207354:exon12:c.T1338C:p.V446V exonic ENSG00000172932 NA synonymous SNV ENSG00000172932:ENST00000515828:exon2:c.T288C:p.V96V,ENSG00000172932:ENST00000514166:exon11:c.T1077C:p.V359V,ENSG00000172932:ENST00000447274:exon12:c.T1077C:p.V359V,ENSG00000172932:ENST00000511455:exon12:c.T1338C:p.V446V,ENSG00000172932:ENST00000308440:exon13:c.T1077C:p.V359V NA NA 11q13.2 Score=765;Name=V$PAX6_01 NA NA NA rs2298815 0.89 0.89 0.884 0.894768 0.9642 0.8859 0.9467 0.761 0.9765 0.96 0.88 0.95 0.75 0.9426 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 -1.485254 NA NA 0.966356 0.794091 NA 0.819 NA 3.7935106 1281 11 68748003 68748003 T C exonic MRGPRD NA synonymous SNV MRGPRD:NM_198923:exon1:c.A453G:p.T151T exonic ENSG00000172938 NA synonymous SNV ENSG00000172938:ENST00000309106:exon1:c.A453G:p.T151T NA NA 11q13.3 NA NA NA NA rs34847539 0.65 0.65 0.63 0.629193 0.6412 0.4871 0.7983 0.8154 0.3916 0.64 0.49 0.75 0.8 0.608 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 0.070803 NA NA 0.624127 0.809091 NA 0.746 NA 3.7933396 1281 6 44143906 44143906 C T intronic CAPN11 NA NA NA intronic ENSG00000137225 NA NA NA NA NA 6p21.1 NA NA NA NA rs79080242 0.05 0.05 0.046 0.0415335 0.0646 0.002 0.0533 0.0643 0.0194 0.07 0.0017 0.05 0.07 0.0639 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 -0.832668 NA NA 0.078239 0.058865 NA 0.029 NA 3.793261 1281 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 1281 6 151917427 151917427 T C intronic CCDC170 NA NA NA intronic ENSG00000120262 NA NA NA NA NA 6q25.1 NA NA NA NA rs3757320 0.07 0.07 0.069 0.0824681 0.0507 0.0833 0.0346 0.1112 0.1094 0.05 0.07 0.03 0.11 0.0882 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 -0.089755 NA NA 0.068076 0.10628 NA 0.043 NA 3.793024 1281 10 135053413 135053413 T C intronic VENTX NA NA NA intronic ENSG00000151650 NA NA NA NA NA 10q26.3 NA NA NA NA rs9418951 0.09 0.09 0.086 0.102636 0.0586 0.0823 0.134 0.1165 0.1278 0.05 0.08 0.13 0.13 0.0836 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207789 NA NA 0.065 0.117113 NA 0.101 NA 3.7928 1281 14 57713422 57713422 C T intronic EXOC5 NA NA NA intronic ENSG00000070367 NA NA NA NA NA 14q22.3 NA NA NA NA rs2038860 0.24 0.24 0.268 0.273163 0.0477 0.0863 0.0951 0.8404 0.0573 0.05 0.08 0.11 0.81 0.1087 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 0.946499 NA NA 0.05098 0.6867 NA 0.312 NA 3.79262 1281 21 38081562 38081562 T G intronic SIM2 NA NA NA intronic ENSG00000159263 NA NA NA NA NA 21q22.13 NA Name=SUZ12 Name=2 NA rs2070647 0.75 0.75 0.733 0.775759 0.7326 0.6716 0.7161 0.9508 0.7331 0.73 0.65 0.69 0.94 0.7501 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 0.535001 NA NA 0.725314 0.92088 NA 0.725 NA 3.791986 1281 10 26310403 26310403 C T intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs56077277 0.04 0.04 0.029 0.0349441 0.0954 0.001 0.0504 0.0144 0.0245 0.08 NA 0.05 0.01 0.0676 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 0.204212 NA NA 0.045116 0.01566 NA NA NA 3.791884 1281 19 7703605 7703605 C T intronic STXBP2 NA NA NA intronic ENSG00000076944,ENSG00000268400 NA NA NA Score=397;Name=lod=55 NA 19p13.2 NA NA NA NA rs8104339 0.49 0.49 0.496 0.482428 0.4165 0.6835 0.3357 0.5212 0.3947 0.42 0.71 0.32 0.46 0.4044 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.174882 NA NA 0.387442 0.502951 NA 0.594 NA 3.791658 1281 3 45152343 45152343 G A intronic CDCP1 NA NA NA intronic ENSG00000163814 NA NA NA NA NA 3p21.31 NA NA NA NA rs78586406 0.04 0.04 0.031 0.0277556 0.0815 NA 0.0274 0.0045 0.0327 0.08 NA 0.03 0.01 0.0573 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 1.993214 1.993214 NA 0.069664 0.013397 NA 0.014 NA 3.791536 1281 11 68177614 68177614 T C intronic LRP5 NA NA NA intronic ENSG00000162337 NA NA NA NA NA 11q13.2 NA NA NA NA rs4988322 0.06 0.06 0.048 0.0559105 0.0716 0.0575 0.0504 0.0651 0.0297 0.06 0.04 0.06 0.05 0.0667 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 -0.48392 NA NA 0.070214 0.070259 NA 0.087 NA 3.791486 1281 10 7785087 7785087 G A intronic ITIH2 NA NA NA intronic ENSG00000151655 NA NA NA NA NA 10p14 NA NA NA NA rs3736966 0.09 0.09 0.093 0.0930511 0.0626 0.2411 0.0375 0.0212 0.1084 0.07 0.23 0.04 0.02 0.0816 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.228655 NA NA 0.064464 0.030654 NA 0.058 NA 3.791336 1281 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 1281 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 1281 17 80397484 80397484 A G intronic HEXDC NA NA NA intronic ENSG00000169660 NA NA NA Score=251;Name=lod=14 NA 17q25.3 NA NA NA NA rs28561791 0.59 0.59 0.577 0.598243 0.3907 0.9048 0.6427 0.6014 0.4601 0.36 0.9 0.62 0.55 0.4634 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 1.131396 NA NA 0.354924 0.551358 NA 0.326 NA 3.790976 1281 2 73899613 73899613 T G ncRNA_exonic ALMS1P NA NA NA ncRNA_exonic ENSG00000163016 NA NA NA NA NA 2p13.1 NA NA NA NA rs2421585 0.84 0.84 0.82 0.840256 0.8757 0.7996 0.9308 0.7935 0.8446 0.87 0.78 0.91 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 0.134271 NA NA NA NA NA 0.804 NA 3.7909666 1281 17 80008392 80008392 G T exonic RFNG NA synonymous SNV RFNG:NM_002917:exon4:c.C459A:p.A153A exonic ENSG00000169733 NA synonymous SNV ENSG00000169733:ENST00000429557:exon3:c.C81A:p.A27A,ENSG00000169733:ENST00000310496:exon4:c.C459A:p.A153A,ENSG00000169733:ENST00000578356:exon4:c.C81A:p.A27A NA NA 17q25.3 NA NA NA NA rs9916764 0.57 0.57 0.571 0.541334 0.6203 0.3085 0.6254 0.6626 0.4765 0.63 0.32 0.63 0.7 0.6036 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 -0.690436 NA NA 0.651896 0.659555 ID=COSM329592;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.616 NA 3.7908706 1281 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 1281 1 101203827 101203827 G A exonic VCAM1 NA synonymous SNV VCAM1:NM_080682:exon8:c.G1932A:p.K644K,VCAM1:NM_001078:exon9:c.G2208A:p.K736K,VCAM1:NM_001199834:exon9:c.G2022A:p.K674K exonic ENSG00000162692 NA synonymous SNV ENSG00000162692:ENST00000370115:exon7:c.G1611A:p.K537K,ENSG00000162692:ENST00000347652:exon8:c.G1932A:p.K644K,ENSG00000162692:ENST00000294728:exon9:c.G2208A:p.K736K,ENSG00000162692:ENST00000370119:exon9:c.G2022A:p.K674K Score=443;Name=lod=84 NA 1p21.2 NA NA NA NA rs3176879 0.87 0.87 0.846 0.871206 0.9702 0.8512 0.9625 0.6929 0.9663 0.97 0.85 0.97 0.66 0.9374 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 -0.399149 NA NA 0.968714 0.720381 NA 0.812 NA 3.7903526 1281 1 109794252 109794252 T C exonic CELSR2 NA synonymous SNV CELSR2:NM_001408:exon1:c.T1551C:p.S517S exonic ENSG00000143126 NA synonymous SNV ENSG00000143126:ENST00000271332:exon1:c.T1551C:p.S517S Score=514;Name=lod=164 NA 1p13.3 NA NA NA NA rs454107 0.92 0.92 0.9 0.901957 0.9672 0.997 0.9625 0.7186 0.9417 0.97 1 0.96 0.71 0.9466 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276165 NA NA 0.962674 0.778257 NA 0.906 NA 3.7901926 1281 1 109795026 109795026 T C exonic CELSR2 NA synonymous SNV CELSR2:NM_001408:exon1:c.T2325C:p.Y775Y exonic ENSG00000143126 NA synonymous SNV ENSG00000143126:ENST00000271332:exon1:c.T2325C:p.Y775Y Score=584;Name=lod=314 NA 1p13.3 NA NA NA NA rs413380 0.92 0.92 0.899 0.901957 0.9672 0.997 0.9611 0.7194 0.9417 0.97 1 0.96 0.72 0.9466 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011258 NA NA 0.962674 0.77803 NA 0.906 NA 3.7901926 1281 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 1281 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 1281 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 1281 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 1281 19 39303434 39303434 C T intronic LGALS4 NA NA NA UTR5 ENSG00000171747 ENST00000594209:c.-320G>A NA NA NA NA 19q13.2 NA NA NA NA rs73933062 0.06 0.06 0.061 0.0822684 0.1243 0.003 0.0879 0.0091 0.2157 0.12 0.0017 0.08 0.01 0.1196 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.865547 NA NA 0.133372 0.028824 NA 0.101 NA 3.7893947 1281 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 1281 10 122618148 122618148 G C ncRNA_intronic MIR5694 NA NA NA intronic ENSG00000120008 NA NA NA NA NA 10q26.12 NA NA NA NA rs2241846 0.19 0.19 0.158 0.184305 0.1571 0.3472 0.2925 0.0257 0.182 0.16 0.33 0.24 0.04 0.197 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.248683 1.248683 NA 0.19 0.05084 ID=COSM147065;OCCURENCE=1(stomach) 0.167 NA 3.7892333 1281 10 26310404 26310404 A G intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs41314631 0.04 0.04 0.031 0.0351438 0.0954 0.001 0.0504 0.0151 0.0245 0.08 NA 0.05 0.02 0.0677 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 -0.678064 NA NA 0.047791 0.016568 NA NA NA 3.789109 1281 6 70990765 70990765 G C intronic COL9A1 NA NA NA intronic ENSG00000112280 NA NA NA NA NA 6q13 NA NA NA NA rs6928611 0.07 0.07 0.07 0.067492 0.0656 0.0377 0.0749 0.0862 0.0695 0.06 0.05 0.08 0.09 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 0.567431 NA NA 0.075972 0.073473 NA 0.065 NA 3.788928 1281 2 128878014 128878014 G A exonic UGGT1 NA synonymous SNV UGGT1:NM_020120:exon9:c.G957A:p.K319K exonic ENSG00000136731 NA synonymous SNV ENSG00000136731:ENST00000259253:exon9:c.G957A:p.K319K,ENSG00000136731:ENST00000375990:exon9:c.G885A:p.K295K Score=580;Name=lod=303 NA 2q14.3 NA NA NA NA rs4662594 0.87 0.87 0.854 0.834864 0.9801 0.8522 0.9063 0.6959 0.8047 0.98 0.82 0.93 0.73 0.9237 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 0.751406 NA NA 0.97407 0.753972 NA 0.819 NA 3.7887966 1281 17 8050979 8050979 A G intronic PER1 NA NA NA intronic ENSG00000179094 NA NA NA NA NA 17p13.1 NA NA NA NA rs2304911 0.15 0.15 0.111 0.165136 0.0507 0.253 0.3156 0.118 0.1493 0.05 0.28 0.24 0.1 0.1109 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.566628 NA NA 0.049884 0.125511 NA 0.159 NA 3.788516 1281 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 1281 6 38851585 38851585 T A intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs72852780 0.11 0.11 0.104 0.0960463 0.2117 0.003 0.1196 0.0582 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 0.670693 NA NA NA NA NA 0.058 NA 3.7883 1281 6 84764982 84764982 C T intronic MRAP2 NA NA NA intronic ENSG00000135324 NA NA NA NA NA 6q14.2 NA NA NA NA rs45563336 0.16 0.16 0.164 0.159145 0.2117 0.1567 0.1527 0.0915 0.2035 0.2 0.16 0.16 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 -0.316593 NA NA NA NA NA 0.138 NA 3.7883 1281 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 1281 17 7404991 7404991 T C exonic POLR2A NA synonymous SNV POLR2A:NM_000937:exon14:c.T2292C:p.N764N exonic ENSG00000181222 NA synonymous SNV ENSG00000181222:ENST00000322644:exon14:c.T2292C:p.N764N Score=597;Name=lod=356 NA 17p13.1 NA NA NA NA rs2228130 0.91 0.91 0.886 0.913738 0.9583 0.9464 0.9712 0.7716 0.9857 0.96 0.94 0.97 0.75 0.9561 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 0.905122 NA NA 0.964186 0.808443 NA 0.913 NA 3.7880806 1281 20 6077501 6077501 T G intronic FERMT1 NA NA NA intronic ENSG00000101311 NA NA NA NA NA 20p12.3 NA NA NA NA rs16991840 0.17 0.17 0.173 0.170527 0.0507 0.4702 0.1816 0.0424 0.1503 0.05 0.5 0.14 0.02 0.1048 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090573 NA NA 0.056512 0.04335 NA 0.152 NA 3.787988 1281 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 1281 19 14020573 14020573 T C intronic CC2D1A NA NA NA intronic ENSG00000132024 NA NA NA NA NA 19p13.12 NA NA NA NA rs12971500 0.38 0.38 0.354 0.373203 0.2127 0.3115 0.2507 0.6755 0.2802 0.25 0.37 0.29 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 0.628874 NA NA NA NA NA 0.355 NA 3.7873 1281 3 49929025 49929025 C A intronic MST1R NA NA NA intronic ENSG00000164078 NA NA NA NA NA 3p21.31 NA NA NA NA rs55643042 0.05 0.05 0.059 0.0543131 0.0746 0.0198 0.0418 0.0787 0.045 0.07 0.03 0.04 0.07 0.0624 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 -0.537886 NA NA 0.075814 0.080799 NA 0.058 NA 3.787186 1281 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 1281 17 32908064 32908064 T C UTR5 TMEM132E NM_207313:c.-32T>C NA NA UTR5 ENSG00000181291 ENST00000321639:c.-32T>C NA NA Score=284;Name=lod=19 NA 17q12 NA Name=Egr-1 NA NA rs4795938 0.88 0.88 0.887 0.865415 0.8439 0.8562 0.8098 0.9962 0.7597 0.84 0.89 0.81 0.99 0.8465 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 1.312847 1.312847 NA 0.855795 0.972358 NA 0.877 NA 3.7871384 1281 22 36587279 36587279 A G exonic APOL4 NA unknown UNKNOWN exonic ENSG00000100336 NA synonymous SNV ENSG00000100336:ENST00000352371:exon6:c.T897C:p.L299L,ENSG00000100336:ENST00000332987:exon7:c.T888C:p.L296L NA NA 22q12.3 NA NA NA NA rs6000174 0.62 0.62 0.613 0.646965 0.496 0.8234 0.5317 0.7307 0.589 0.46 0.81 0.56 0.7 0.546 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 -0.431214 NA NA 0.504345 0.675089 NA 0.616 NA 3.7869883 1281 2 27290525 27290525 A G intronic AGBL5 NA NA NA exonic ENSG00000084693 NA synonymous SNV ENSG00000084693:ENST00000441931:exon2:c.A303G:p.P101P Score=455;Name=lod=94 NA 2p23.3 NA NA NA NA rs11681145 0.67 0.67 0.668 0.641773 0.6889 0.9345 0.5778 0.357 0.7219 0.7 0.94 0.59 0.38 0.6676 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 -0.789769 NA NA 0.689884 0.394235 NA 0.652 NA 3.7869493 1281 2 55214618 55214618 A C intronic RTN4 NA NA NA intronic ENSG00000115310 NA NA NA Score=673;Name=lod=726 NA 2p16.1 Score=684;Name=V$BRACH_01 NA NA NA rs2580769 0.67 0.67 0.656 0.60603 0.7555 0.7579 0.6671 0.4486 0.4652 0.74 0.77 0.7 0.44 0.6978 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 3.401246 3.401246 NA 0.760116 0.494553 NA 0.601 NA 3.786584 1281 1 207850717 207850717 G A intronic CR1L NA NA NA intronic ENSG00000197721 NA NA NA NA NA 1q32.2 NA NA NA NA rs74231794 0.13 0.13 0.121 0.121206 0.0616 0.3462 0.0519 0.0159 0.1421 0.07 0.35 0.05 0.02 0.0895 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.458684 NA NA 0.062408 0.02508 NA 0.08 NA 3.786492 1281 19 53117809 53117809 C A exonic ZNF83 NA synonymous SNV ZNF83:NM_001105554:exon3:c.G9T:p.G3G,ZNF83:NM_001277951:exon3:c.G9T:p.G3G,ZNF83:NM_018300:exon3:c.G9T:p.G3G,ZNF83:NM_001105552:exon4:c.G9T:p.G3G,ZNF83:NM_001242538:exon4:c.G9T:p.G3G,ZNF83:NM_001277946:exon4:c.G9T:p.G3G,ZNF83:NM_001105550:exon5:c.G9T:p.G3G,ZNF83:NM_001105551:exon5:c.G9T:p.G3G,ZNF83:NM_001277948:exon5:c.G9T:p.G3G,ZNF83:NM_001277949:exon5:c.G9T:p.G3G,ZNF83:NM_001277952:exon5:c.G9T:p.G3G,ZNF83:NM_001105549:exon6:c.G9T:p.G3G,ZNF83:NM_001105553:exon6:c.G9T:p.G3G,ZNF83:NM_001242531:exon6:c.G9T:p.G3G,ZNF83:NM_001277945:exon6:c.G9T:p.G3G,ZNF83:NM_001277947:exon6:c.G9T:p.G3G exonic ENSG00000167766 NA synonymous SNV ENSG00000167766:ENST00000391789:exon1:c.G9T:p.G3G,ENSG00000167766:ENST00000541777:exon2:c.G9T:p.G3G,ENSG00000167766:ENST00000597597:exon2:c.G9T:p.G3G,ENSG00000167766:ENST00000301096:exon3:c.G9T:p.G3G,ENSG00000167766:ENST00000545872:exon3:c.G9T:p.G3G,ENSG00000167766:ENST00000536937:exon5:c.G9T:p.G3G,ENSG00000167766:ENST00000544146:exon6:c.G9T:p.G3G NA NA 19q13.41 NA NA NA NA rs10406458 0.72 0.72 0.723 0.71266 0.6392 0.7044 0.7435 0.8888 0.5368 0.65 0.72 0.71 0.86 0.646 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 -0.24102 NA NA 0.595 0.81389 NA 0.674 NA 3.7864666 1281 22 18021505 18021505 T C intronic CECR2 NA NA NA intronic ENSG00000099954 NA NA NA NA NA 22q11.21 NA NA NA NA rs2268776 0.09 0.09 0.065 0.091853 0.0636 0.1389 0.196 0.0212 0.0941 0.06 0.13 0.18 0.03 0.0856 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.052591 NA NA 0.064817 0.016121 NA 0.051 NA 3.785983 1281 21 19642285 19642285 G T UTR3 TMPRSS15 NM_002772:c.*1C>A NA NA UTR3 ENSG00000154646 ENST00000284885:c.*1C>A NA NA NA NA 21q21.1 NA NA NA NA rs7276699 0.16 0.16 0.165 0.160343 0.1829 0.0615 0.0908 0.2753 0.1329 0.18 0.05 0.1 0.28 0.1717 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.101171 NA NA 0.192907 0.237857 NA 0.188 NA 3.7858264 1281 15 89860786 89860786 A C intronic POLG NA NA NA intronic ENSG00000140521 NA NA NA NA NA 15q26.1 NA NA Name=22 NA rs2307438 0.43 0.43 0.438 0.419928 0.3966 0.3353 0.4467 0.5424 0.3466 0.42 0.34 0.47 0.55 0.4209 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.340386 1.340386 NA 0.396836 0.510909 NA 0.457 NA 3.785664 1281 3 122642590 122642590 G A exonic SEMA5B NA synonymous SNV SEMA5B:NM_001256348:exon9:c.C972T:p.I324I,SEMA5B:NM_001031702:exon10:c.C1146T:p.I382I,SEMA5B:NM_001256346:exon10:c.C1146T:p.I382I,SEMA5B:NM_001256347:exon10:c.C1308T:p.I436I exonic ENSG00000082684 NA synonymous SNV ENSG00000082684:ENST00000195173:exon10:c.C1146T:p.I382I,ENSG00000082684:ENST00000357599:exon10:c.C1146T:p.I382I,ENSG00000082684:ENST00000393583:exon10:c.C1146T:p.I382I,ENSG00000082684:ENST00000451055:exon10:c.C1308T:p.I436I,ENSG00000082684:ENST00000475244:exon10:c.C1146T:p.I382I NA NA 3q21.1 NA NA NA NA rs2276778 0.43 0.43 0.414 0.416334 0.6511 0.3006 0.4366 0.1861 0.591 0.66 0.29 0.49 0.2 0.5612 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 -0.397889 NA NA 0.668721 0.266001 NA 0.529 NA 3.7856456 1281 21 44486271 44486271 G T intronic CBS NA NA NA intronic ENSG00000160200 NA NA NA NA NA 21q22.3 NA NA NA NA rs234707 0.14 0.14 0.142 0.13119 0.2147 0.0268 0.085 0.1407 0.1728 0.23 0.03 0.1 0.18 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 -0.383463 NA NA NA NA NA 0.174 NA 3.7853 1281 15 45400358 45400358 C G exonic DUOX2 NA synonymous SNV DUOX2:NM_014080:exon13:c.G1461C:p.G487G exonic ENSG00000140279 NA synonymous SNV ENSG00000140279:ENST00000389039:exon13:c.G1461C:p.G487G,ENSG00000140279:ENST00000603300:exon13:c.G1461C:p.G487G Score=455;Name=lod=94 NA 15q21.1 NA NA NA NA rs269860 0.88 0.88 0.857 0.861422 0.9692 0.9901 0.9308 0.5499 0.9898 0.98 0.99 0.95 0.57 0.941 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 1.178768 NA NA 0.971382 0.632393 NA 0.855 NA 3.7850846 1281 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 1282 3 49927503 49927503 G T intronic MST1R NA NA NA intronic ENSG00000164078 NA NA NA NA NA 3p21.31 NA NA NA NA rs12489386 0.06 0.06 0.059 0.0573083 0.0746 0.0198 0.0418 0.09 0.045 0.07 0.03 0.04 0.08 0.0648 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 0.760756 NA NA 0.076047 0.093736 NA 0.058 NA 3.784553 1282 17 3558700 3558700 G A intronic CTNS NA NA NA intronic ENSG00000040531 NA NA NA NA NA 17p13.2 NA NA NA NA rs12938401 0.18 0.18 0.152 0.163538 0.2157 0.2421 0.2147 0.0151 0.1933 0.21 0.26 0.21 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 -0.213894 NA NA NA NA NA NA NA 3.7843 1282 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 1282 5 156753284 156753284 T C intronic CYFIP2 NA NA NA intronic ENSG00000055163 NA NA NA NA NA 5q33.3 NA NA NA NA rs2289850 0.15 0.15 0.161 0.177316 0.0616 0.2679 0.0562 0.2655 0.1697 0.07 0.24 0.04 0.26 0.1 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.942078 NA NA 0.054279 0.215926 NA 0.152 NA 3.784121 1282 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 1282 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 1282 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 1282 7 83590852 83590852 T C exonic SEMA3A NA synonymous SNV SEMA3A:NM_006080:exon17:c.A2151G:p.T717T exonic ENSG00000075213 NA synonymous SNV ENSG00000075213:ENST00000265362:exon17:c.A2151G:p.T717T,ENSG00000075213:ENST00000436949:exon18:c.A2151G:p.T717T NA NA 7q21.11 NA NA NA NA rs797821 0.62 0.62 0.599 0.612021 0.6412 0.6915 0.6902 0.475 0.6299 0.62 0.7 0.7 0.47 0.6132 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 0.070156 NA NA 0.629186 0.494553 NA 0.63 NA 3.7830806 1282 19 10477072 10477072 C T intronic TYK2 NA NA NA intronic ENSG00000105397 NA NA NA NA NA 19p13.2 NA NA NA NA rs79337061 0.04 0.04 0.032 0.0433307 0.0746 0.0298 0.0403 0.0038 0.0808 0.07 0.03 0.06 0.01 0.0641 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 1.013263 NA NA 0.078372 0.017249 NA 0.014 NA 3.782928 1282 1 156563852 156563852 C T exonic APOA1BP NA synonymous SNV APOA1BP:NM_144772:exon6:c.C843T:p.T281T exonic ENSG00000163382 NA synonymous SNV ENSG00000163382:ENST00000368235:exon6:c.C843T:p.T281T NA NA 1q23.1 NA Name=Pol2(phosphoS2) NA NA rs942963 0.94 0.94 0.935 0.928514 0.9592 0.9722 0.9568 0.8638 0.9192 0.96 0.97 0.96 0.88 0.9551 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 0.596292 NA NA 0.969767 0.857694 NA 0.862 NA 3.7825996 1282 12 18443955 18443955 C A intronic PIK3C2G NA NA NA intronic ENSG00000139144 NA NA NA NA NA 12p12.3 NA NA NA NA rs7133903 0.04 0.04 0.024 0.0269569 0.0676 NA 0.072 0.0038 0.0123 0.07 NA 0.09 0.0041 0.0647 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 -0.621113 NA NA 0.085211 0.01477 NA 0.065 NA 3.782489 1282 11 1082533 1082533 G A intronic MUC2 NA NA NA intronic ENSG00000198788 NA NA NA NA NA 11p15.5 NA NA NA NA rs41343848 0.31 0.31 0.275 0.367612 0.2177 0.3919 0.3646 0.4289 0.4162 0.21 0.4 0.3 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 -0.622814 NA NA NA NA NA 0.261 NA 3.7823 1282 14 24771256 24771256 T C exonic NOP9 NA synonymous SNV NOP9:NM_174913:exon4:c.T894C:p.H298H exonic ENSG00000196943 NA synonymous SNV ENSG00000196943:ENST00000267425:exon4:c.T894C:p.H298H,ENSG00000196943:ENST00000396802:exon4:c.T894C:p.H298H Score=371;Name=lod=43 NA 14q12 NA NA NA NA rs4247001 0.91 0.91 0.914 0.910543 0.9742 0.8552 0.9294 0.8631 0.953 0.98 0.82 0.92 0.88 0.9454 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 -0.11636 NA NA 0.964767 0.899455 NA 0.891 NA 3.7822996 1282 16 396264 396264 A G exonic AXIN1 NA synonymous SNV AXIN1:NM_003502:exon2:c.T762C:p.D254D,AXIN1:NM_181050:exon2:c.T762C:p.D254D exonic ENSG00000103126 NA synonymous SNV ENSG00000103126:ENST00000262320:exon2:c.T762C:p.D254D,ENSG00000103126:ENST00000354866:exon2:c.T762C:p.D254D NA NA 16p13.3 NA NA NA NA rs1805105 0.58 0.58 0.592 0.638978 0.6173 0.2897 0.5375 0.9024 0.7372 0.61 0.31 0.54 0.9 0.6218 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 -1.617666 NA NA 0.645349 0.848389 NA 0.616 NA 3.7822176 1282 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 1282 11 61897359 61897359 C T exonic INCENP NA synonymous SNV INCENP:NM_001040694:exon4:c.C360T:p.V120V,INCENP:NM_020238:exon4:c.C360T:p.V120V exonic ENSG00000149503 NA synonymous SNV ENSG00000149503:ENST00000278849:exon4:c.C360T:p.V120V,ENSG00000149503:ENST00000394818:exon4:c.C360T:p.V120V,ENSG00000149503:ENST00000533896:exon4:c.C360T:p.V120V NA NA 11q12.3 NA NA NA NA rs1675133 0.4 0.4 0.415 0.345647 0.6859 0.1181 0.379 0.32 0.2413 0.67 0.09 0.42 0.32 0.5153 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.166576 NA NA 0.683298 0.359609 ID=COSM429423;OCCURENCE=2(breast),1(large_intestine) 0.391 NA 3.7821686 1282 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 1282 1 202287813 202287813 T C exonic LGR6 NA synonymous SNV LGR6:NM_001017404:exon16:c.T1965C:p.F655F,LGR6:NM_001017403:exon18:c.T2382C:p.F794F,LGR6:NM_021636:exon18:c.T2226C:p.F742F exonic ENSG00000133067 NA synonymous SNV ENSG00000133067:ENST00000439764:exon16:c.T1965C:p.F655F,ENSG00000133067:ENST00000255432:exon18:c.T2226C:p.F742F,ENSG00000133067:ENST00000367278:exon18:c.T2382C:p.F794F NA NA 1q32.1 NA NA NA NA rs788793 0.62 0.62 0.589 0.610423 0.6392 0.7679 0.7233 0.3389 0.7055 0.64 0.75 0.69 0.36 0.634 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 0.4969 NA NA 0.611628 0.373128 NA 0.565 NA 3.7818386 1282 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 1282 4 186997767 186997767 C A UTR5 TLR3 NM_003265:c.-7C>A NA NA UTR5 ENSG00000164342 ENST00000296795:c.-7C>A,ENST00000513189:c.-7C>A NA NA NA NA 4q35.1 NA NA NA NA rs3775296 0.18 0.18 0.177 0.181709 0.174 0.244 0.1585 0.1528 0.181 0.18 0.23 0.15 0.14 0.1824 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.925335 NA NA 0.195116 0.159555 NA 0.138 NA 3.7818174 1282 3 113322006 113322006 T G intronic SIDT1 NA NA NA intronic ENSG00000072858 NA NA NA NA NA 3q13.2 NA NA NA NA rs17325765 0.03 0.03 0.026 0.0319489 0.0716 NA 0.0663 0.003 0.0389 0.06 NA 0.07 0.0041 0.0615 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 -0.326382 NA NA 0.085349 0.019065 NA 0.043 NA 3.781551 1282 15 91430436 91430436 T C exonic FES NA synonymous SNV FES:NM_001143783:exon3:c.T330C:p.A110A,FES:NM_001143784:exon4:c.T504C:p.A168A,FES:NM_001143785:exon4:c.T330C:p.A110A,FES:NM_002005:exon5:c.T504C:p.A168A exonic ENSG00000182511 NA synonymous SNV ENSG00000182511:ENST00000394300:exon3:c.T330C:p.A110A,ENSG00000182511:ENST00000450438:exon3:c.T330C:p.A110A,ENSG00000182511:ENST00000394302:exon4:c.T330C:p.A110A,ENSG00000182511:ENST00000414248:exon4:c.T330C:p.A110A,ENSG00000182511:ENST00000444422:exon4:c.T504C:p.A168A,ENSG00000182511:ENST00000328850:exon5:c.T504C:p.A168A,ENSG00000182511:ENST00000464684:exon5:c.T504C:p.A168A,ENSG00000182511:ENST00000559355:exon5:c.T504C:p.A168A Score=585;Name=lod=318 NA 15q26.1 NA NA NA NA rs2071383 0.93 0.93 0.922 0.9377 0.9563 0.8909 0.9841 0.9259 0.9499 0.96 0.9 0.98 0.9 0.9608 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 1.31453 1.31453 NA 0.968125 0.929936 NA 0.935 NA 3.7814416 1282 2 215711848 215711848 A G intergenic BARD1,ABCA12 dist=37420;dist=84418 NA NA ncRNA_intronic ENSG00000229267 NA NA NA NA NA 2q35 NA NA NA NA rs35044385 0.2 0.2 0.176 0.219449 0.2187 0.2054 0.1628 0.171 0.3405 0.23 0.18 0.16 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 -0.773925 NA NA NA NA NA 0.225 NA 3.7813 1282 1 201687451 201687451 A G intronic NAV1 NA NA NA ncRNA_intronic ENSG00000231871 NA NA NA NA NA 1q32.1 NA NA NA NA rs11576721 0.57 0.57 0.559 0.572085 0.5527 0.5952 0.7133 0.5174 0.5419 0.54 0.6 0.68 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 -0.237788 NA NA NA NA NA 0.659 NA 3.7806333 1282 9 80932515 80932515 C A intronic PSAT1 NA NA NA intronic ENSG00000135069 NA NA NA NA NA 9q21.2 NA NA NA NA rs3780193 0.22 0.22 0.226 0.233427 0.2197 0.3185 0.2075 0.174 0.2587 0.22 0.31 0.17 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 -0.328917 NA NA NA NA NA 0.196 NA 3.7803 1282 9 140358556 140358556 C T intronic PNPLA7 NA NA NA intronic ENSG00000130653 NA NA NA NA NA 9q34.3 NA NA NA NA rs4962238 0.04 0.04 0.024 0.0321486 0.0785 0.004 0.0245 0.0182 0.0378 0.08 0.01 0.03 0.01 0.0668 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 0.061259 NA NA 0.074785 0.029078 NA NA NA 3.779915 1282 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 1282 6 160229867 160229867 C T intronic PNLDC1 NA NA NA intronic ENSG00000146453 NA NA NA NA NA 6q25.3 NA NA NA NA rs41267787 0.08 0.08 0.078 0.0866613 0.0785 0.006 0.0591 0.1906 0.0573 0.08 NA 0.07 0.2 0.0707 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.51696 NA NA 0.071163 0.166818 NA 0.101 NA 3.779637 1282 7 6038722 6038722 T C intronic PMS2 NA NA NA intronic ENSG00000122512 NA NA NA NA NA 7p22.1 NA NA NA NA rs62456182 0.36 0.36 0.348 0.325679 0.4364 0.3591 0.3746 0.1778 0.3425 0.44 0.38 0.37 0.21 0.3678 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77064 NA NA 0.416279 0.202678 NA 0.232 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_specified|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=exp|single|single;CLNACC=RCV000030371.2|RCV000079110.1|RCV000130741.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|.|MedGen;CLNDSDBID=NBK1211:C0009405:315058005|.|C0027672 3.779521 1282 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 1282 6 36269603 36269603 G A intronic PNPLA1 NA NA NA intronic ENSG00000180316 NA NA NA NA NA 6p21.31 NA NA Name=20 NA rs10947600 0.33 0.33 0.277 0.261382 0.4076 0.255 0.5159 0.034 0.2444 0.43 0.32 0.52 0.05 0.3872 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.437402 NA NA 0.42584 0.109467 NA 0.275 NA 3.77936 1282 2 109103108 109103108 C T intronic GCC2 NA NA NA intronic ENSG00000135968 NA NA NA NA NA 2q12.3 NA NA Name=2 NA rs3754925 0.49 0.49 0.429 0.44369 0.3728 0.8899 0.5793 0.1263 0.3896 0.39 0.88 0.55 0.16 0.445 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 -0.083249 NA NA 0.402907 0.184975 NA 0.29 NA 3.779293 1282 2 230312261 230312261 G A intronic DNER NA NA NA intronic ENSG00000187957 NA NA NA NA NA 2q36.3 NA NA NA NA rs10490182 0.03 0.03 0.029 0.0195687 0.0716 0.001 0.0259 0.0023 0.0041 0.08 NA 0.03 0.0041 0.0662 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 -0.785259 NA NA 0.083372 0.016568 NA 0.029 NA 3.778828 1282 8 97847358 97847358 G T exonic CPQ NA synonymous SNV CPQ:NM_016134:exon3:c.G591T:p.V197V exonic ENSG00000104324 NA synonymous SNV ENSG00000104324:ENST00000220763:exon3:c.G591T:p.V197V NA NA 8q22.1 NA NA NA NA rs1864384 0.62 0.62 0.581 0.609225 0.6093 0.8829 0.6556 0.3177 0.6881 0.61 0.87 0.64 0.34 0.6295 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 -1.741577 NA NA 0.649186 0.397186 NA 0.623 NA 3.7786806 1282 9 5968416 5968416 A G exonic KIAA2026 NA synonymous SNV KIAA2026:NM_001017969:exon3:c.T1815C:p.L605L exonic ENSG00000183354 NA synonymous SNV ENSG00000183354:ENST00000513355:exon2:c.T1614C:p.L538L,ENSG00000183354:ENST00000381461:exon3:c.T1815C:p.L605L,ENSG00000183354:ENST00000399933:exon3:c.T1815C:p.L605L Score=592;Name=lod=340 NA 9p24.1 NA NA NA NA rs3739649 0.85 0.85 0.837 0.820887 0.9751 0.6845 0.8847 0.7148 0.9008 0.98 0.73 0.91 0.76 0.9231 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 -0.136248 NA NA 0.989801 0.760906 NA 0.87 NA 3.7786656 1282 3 194118874 194118874 T C exonic GP5 NA synonymous SNV GP5:NM_004488:exon2:c.A138G:p.L46L exonic ENSG00000178732 NA synonymous SNV ENSG00000178732:ENST00000401815:exon1:c.A138G:p.L46L,ENSG00000178732:ENST00000323007:exon2:c.A138G:p.L46L NA NA 3q29 NA NA Name=38 NA rs1223989 0.99 0.99 0.988 0.989816 0.9642 1 0.9942 0.9947 0.9959 0.97 1 1 0.99 0.9704 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471768 NA NA 0.953559 0.989754 NA 0.92 NA 3.7785076 1282 19 14815804 14815804 C T intronic ZNF333 NA NA NA intronic ENSG00000160961 NA NA NA NA NA 19p13.12 NA NA NA NA rs35325242 0.13 0.13 0.12 0.113818 0.2217 0.0585 0.1095 0.0666 0.1268 0.23 0.05 0.13 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 -0.781358 NA NA NA NA NA 0.138 NA 3.7783 1282 13 111144412 111144412 C G intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA NA NA rs2296849 0.1 0.1 0.088 0.117212 0.0616 0.1974 0.0677 0.0416 0.229 0.07 0.21 0.06 0.07 0.1188 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518669 NA NA 0.041794 0.0232 NA 0.13 NA 3.777806 1282 2 25065274 25065274 T G intronic ADCY3 NA NA NA intronic ENSG00000138031 NA NA NA NA NA 2p23.3 NA NA NA NA rs41281519 0.06 0.06 0.04 0.0483227 0.0845 0.1022 0.0519 0.0038 0.0133 0.08 0.07 0.07 0.01 0.0591 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 -0.321235 NA NA 0.078837 0.019973 NA 0.101 NA 3.777563 1282 2 1642790 1642790 T C intronic PXDN NA NA NA intronic ENSG00000130508 NA NA NA NA NA 2p25.3 NA NA NA NA rs66753271 0.08 0.08 0.064 0.0722843 0.0736 0.004 0.0865 0.1604 0.0123 0.07 0.0017 0.09 0.16 0.0701 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.435233 NA NA 0.078797 0.121699 NA 0.138 NA 3.777503 1282 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 1282 17 3976075 3976075 C G intronic ZZEF1 NA NA NA intronic ENSG00000074755 NA NA NA Score=243;Name=lod=13 NA 17p13.2 NA NA NA NA rs781820 0.47 0.47 0.495 0.477037 0.4085 0.248 0.4135 0.8139 0.3732 0.41 0.27 0.44 0.82 0.4164 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 0.853025 NA NA 0.398697 0.757149 NA 0.493 NA 3.776403 1282 19 41081295 41081295 T A intronic SPTBN4 NA NA NA intronic ENSG00000160460 NA NA NA NA NA 19q13.2 NA NA NA NA rs62107872 0.03 0.03 0.032 0.0197684 0.0755 NA 0.0173 0.0008 0.0102 0.09 NA 0.02 NA 0.065 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 -1.160419 NA NA 0.08314 0.016114 NA 0.022 NA 3.77636 1282 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 1282 5 96322419 96322419 C T intronic LNPEP NA NA NA intronic ENSG00000113441 NA NA NA NA NA 5q15 NA Name=MafK_(ab50322) NA NA rs38034 0.4 0.4 0.409 0.394169 0.4165 0.3929 0.3228 0.4039 0.41 0.42 0.35 0.33 0.46 0.3901 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.780161 NA NA 0.417791 0.406945 NA 0.283 NA 3.775609 1282 12 48596118 48596118 C T downstream OR10AD1 NA NA NA UTR3 ENSG00000172640 ENST00000310248:c.*4G>A NA NA NA NA 12q13.11 NA NA NA NA rs78137938 0.03 0.03 0.029 0.0261581 0.0815 NA 0.0317 0.0129 0.0102 0.08 NA 0.02 0.02 0.0604 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 3.004739 3.004739 NA 0.082791 0.023604 NA 0.029 NA 3.775309 1282 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 1282 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 1282 15 42459558 42459558 G A intronic VPS39 NA NA NA intronic ENSG00000166887 NA NA NA NA NA 15q15.1 NA NA NA NA rs112523150 0.03 0.03 0.03 0.0507188 0.0736 0.001 0.0504 0.0068 0.138 0.07 0.0017 0.05 0.002 0.0755 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 -0.677387 NA NA 0.075832 0.020654 NA 0.014 NA 3.775068 1283 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 1283 15 42632147 42632147 C A intronic GANC NA NA NA intronic ENSG00000214013 NA NA NA NA NA 15q15.1 NA NA NA NA rs112976093 0.04 0.04 0.035 0.0541134 0.0746 0.002 0.0504 0.0189 0.137 0.07 0.0035 0.06 0.02 0.0772 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 1.805292 1.805292 NA 0.073854 0.03291 NA 0.014 NA 3.774346 1283 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 1283 8 99054796 99054796 C T intronic RPL30 NA NA NA ncRNA_exonic ENSG00000245970 NA NA NA NA NA 8q22.2 NA NA NA NA rs56137923 0.3 0.3 0.28 0.250998 0.5596 0.0794 0.3228 0.1271 0.227 0.56 0.06 0.38 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 0.284852 NA NA NA NA NA 0.319 NA 3.7737333 1283 11 1009307 1009307 C T intronic AP2A2 NA NA NA intronic ENSG00000183020 NA NA NA NA NA 11p15.5 NA NA NA NA rs11246379 0.06 0.06 0.064 0.0543131 0.0865 0.001 0.0591 0.0953 0.0174 0.09 0.0017 0.06 0.09 0.0657 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 -1.035965 NA NA 0.074341 0.087848 NA 0.094 NA 3.773459 1283 2 25059745 25059745 T G intronic ADCY3 NA NA NA intronic ENSG00000138031 NA NA NA NA NA 2p23.3 NA NA NA NA rs77760734 0.06 0.06 0.047 0.0547125 0.0845 0.0427 0.0533 0.0719 0.0143 0.08 0.03 0.08 0.05 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 0.026627 NA NA 0.079651 0.073082 NA 0.109 NA 3.773349 1283 18 8826083 8826083 G C exonic SOGA2 NA synonymous SNV SOGA2:NM_015210:exon15:c.G4575C:p.T1525T exonic ENSG00000168502 NA synonymous SNV ENSG00000168502:ENST00000518815:exon9:c.G2550C:p.T850T,ENSG00000168502:ENST00000306329:exon13:c.G5532C:p.T1844T,ENSG00000168502:ENST00000517570:exon13:c.G4452C:p.T1484T,ENSG00000168502:ENST00000400050:exon14:c.G4452C:p.T1484T,ENSG00000168502:ENST00000359865:exon15:c.G4575C:p.T1525T,ENSG00000168502:ENST00000306285:exon16:c.G2550C:p.T850T NA NA 18p11.22 Score=748;Name=V$STAT5A_02 NA NA NA rs3744977 0.9 0.9 0.923 0.892173 0.9771 0.8899 0.8818 0.7867 0.9571 0.98 0.89 0.9 0.82 0.9439 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 -1.301417 NA NA 0.972326 0.820391 NA 0.906 NA 3.7733406 1283 6 132859609 132859609 T A exonic TAAR9 NA unknown UNKNOWN exonic ENSG00000237110 NA unknown UNKNOWN Score=455;Name=lod=94 NA 6q23.2 NA NA NA NA rs2842899 0.81 0.81 0.81 0.805711 0.7435 0.8849 0.7032 0.8472 0.8047 0.74 0.89 0.73 0.88 0.7533 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 0.35169 NA NA 0.729869 0.824451 NA 0.783 NA 3.773331 1283 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 1283 21 46875564 46875564 T C exonic COL18A1 NA synonymous SNV COL18A1:NM_030582:exon1:c.T120C:p.H40H exonic ENSG00000182871 NA synonymous SNV ENSG00000182871:ENST00000355480:exon1:c.T120C:p.H40H,ENSG00000182871:ENST00000359759:exon1:c.T120C:p.H40H NA NA 21q22.3 NA Name=CTCF,Pol2,c-Myc NA NA rs914230 0.98 0.98 0.988 0.988419 0.9662 1 0.9827 0.9985 0.9898 0.96 1 0.98 1 0.9705 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.241898 NA NA 0.956866 0.994315 NA 0.986 NA 3.7731006 1283 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 1283 15 42302437 42302437 G C intronic PLA2G4E NA NA NA exonic ENSG00000188089 NA synonymous SNV ENSG00000188089:ENST00000413860:exon1:c.C9G:p.A3A NA NA 15q15.1 NA NA NA NA rs9920824 0.38 0.38 0.295 0.417931 0.3618 0.3919 0.2421 0.4539 0.5787 0.37 0.38 0.25 0.49 0.377 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.216972 NA NA 0.322011 0.414058 NA 0.304 NA 3.7725223 1283 19 1422299 1422299 T C intronic DAZAP1 NA NA NA intronic ENSG00000071626 NA NA NA NA NA 19p13.3 NA Name=GR NA NA rs2271055 0.49 0.49 0.506 0.499601 0.4155 0.3661 0.4063 0.8192 0.3579 0.39 0.35 0.46 0.81 0.4155 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 -0.034645 NA NA 0.396512 0.742624 NA 0.514 NA 3.772488 1283 19 4493708 4493708 A G exonic HDGFRP2 NA synonymous SNV HDGFRP2:NM_001001520:exon7:c.A687G:p.P229P,HDGFRP2:NM_032631:exon7:c.A687G:p.P229P exonic ENSG00000167674 NA synonymous SNV ENSG00000167674:ENST00000301284:exon7:c.A687G:p.P229P,ENSG00000167674:ENST00000586684:exon7:c.A687G:p.P229P,ENSG00000167674:ENST00000589486:exon7:c.A312G:p.P104P NA NA 19p13.3 NA NA NA NA rs892161 0.57 0.57 0.56 0.582069 0.6243 0.4236 0.6484 0.6702 0.5358 0.62 0.41 0.6 0.67 0.6431 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.62799 NA NA 0.626911 0.680233 ID=COSM439749;OCCURENCE=1(breast) 0.601 NA 3.7723556 1283 14 96797724 96797724 G A exonic ATG2B NA synonymous SNV ATG2B:NM_018036:exon11:c.C1719T:p.H573H exonic ENSG00000066739 NA synonymous SNV ENSG00000066739:ENST00000359933:exon11:c.C1719T:p.H573H Score=557;Name=lod=244 NA 14q32.2 NA NA NA NA rs1822372 0.85 0.85 0.855 0.84405 0.9841 0.5546 0.8847 0.9523 0.8231 0.98 0.56 0.89 0.95 0.9206 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 0.863706 NA NA 0.989662 0.955448 NA 0.899 NA 3.7723046 1283 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 1283 2 98525107 98525107 T C intronic TMEM131 NA NA NA intronic ENSG00000075568 NA NA NA NA NA 2q11.2 NA Name=MEF2A,NFKB,PU.1 Name=7 NA rs1317178 0.65 0.65 0.691 0.594848 0.7803 0.2907 0.5591 0.9198 0.3037 0.78 0.3 0.59 0.91 0.6678 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 0.176465 NA NA 0.78026 0.887637 NA 0.746 NA 3.77164 1283 14 50074893 50074893 C T intronic LRR1 NA NA NA intronic ENSG00000165501 NA NA NA NA NA 14q21.3 NA NA NA NA rs12435674 0.2 0.2 0.187 0.188099 0.2286 0.0268 0.317 0.323 0.0389 0.22 0.05 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 -1.135049 NA NA NA NA NA 0.196 NA 3.7714 1283 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 1283 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 1283 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 1283 18 74680259 74680259 C T exonic ZNF236 NA synonymous SNV ZNF236:NM_007345:exon31:c.C5502T:p.A1834A exonic ENSG00000130856 NA synonymous SNV ENSG00000130856:ENST00000253159:exon31:c.C5502T:p.A1834A,ENSG00000130856:ENST00000320610:exon31:c.C5508T:p.A1836A NA NA 18q23 NA NA Name=3 NA rs657066 0.91 0.91 0.878 0.892173 0.9672 0.9772 0.9424 0.6778 0.9816 0.97 0.97 0.96 0.7 0.9531 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 -0.718053 NA NA 0.97506 0.728457 NA 0.855 NA 3.7713066 1283 19 49164952 49164952 A G exonic NTN5 NA synonymous SNV NTN5:NM_145807:exon7:c.T1452C:p.S484S exonic ENSG00000142233 NA synonymous SNV ENSG00000142233:ENST00000270235:exon7:c.T1452C:p.S484S NA NA 19q13.33 NA NA NA NA rs281392 0.53 0.53 0.533 0.532947 0.6421 0.5625 0.4669 0.351 0.683 0.63 0.53 0.53 0.36 0.6013 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.413688 NA NA 0.651962 0.414506 NA 0.522 NA 3.7713046 1283 1 18808465 18808465 T A exonic KLHDC7A NA synonymous SNV KLHDC7A:NM_152375:exon1:c.T990A:p.A330A exonic ENSG00000179023 NA synonymous SNV ENSG00000179023:ENST00000400664:exon1:c.T990A:p.A330A NA NA 1p36.13 NA NA NA NA rs3007718 0.72 0.72 0.701 0.672724 0.6113 0.8948 0.7277 0.6611 0.4836 0.62 0.91 0.7 0.67 0.6557 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 2.027137 2.027137 NA 0.628558 0.663326 NA 0.587 NA 3.7711086 1283 11 71946333 71946333 T C intronic INPPL1 NA NA NA intronic ENSG00000165458 NA NA NA NA NA 11q13.4 NA NA NA NA rs2276046 0.13 0.13 0.121 0.136581 0.0746 0.1498 0.1153 0.2247 0.0828 0.07 0.12 0.14 0.23 0.0935 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014889 NA NA 0.060797 0.206136 NA 0.152 NA 3.771103 1283 22 45821887 45821887 G A exonic RIBC2 NA unknown UNKNOWN exonic ENSG00000128408 NA synonymous SNV ENSG00000128408:ENST00000342894:exon5:c.G516A:p.L172L,ENSG00000128408:ENST00000538017:exon5:c.G720A:p.L240L NA NA 22q13.31 NA NA NA NA rs1022477 0.65 0.65 0.673 0.705671 0.508 0.6925 0.5403 0.9327 0.7331 0.49 0.66 0.58 0.92 0.5709 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 -1.235967 NA NA 0.483488 0.864957 NA 0.79 NA 3.7709453 1283 12 100041942 100041942 T A UTR5 FAM71C NM_153364:c.-11T>A NA NA UTR5 ENSG00000180219 ENST00000324341:c.-11T>A NA NA NA NA 12q23.1 NA NA NA NA rs79915291 0.25 0.25 NA 0.234425 0.2903 0.0992 0.1888 0.3616 0.1769 0.31 0.1 0.21 0.37 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 -0.478345 NA NA NA NA NA NA NA 3.7709334 1283 11 17124388 17124388 A C intronic PIK3C2A NA NA NA intronic ENSG00000011405 NA NA NA NA NA 11p15.1 NA NA NA NA rs36120454 0.04 0.04 0.023 0.024361 0.0954 NA 0.0259 0.0015 0.0061 0.11 NA 0.03 0.002 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 0.760471 NA NA 0.070946 0.015227 ID=COSM1579047;OCCURENCE=1(breast) 0.022 NA 3.770854 1283 7 73012051 73012051 G T intronic MLXIPL NA NA NA intronic ENSG00000009950 NA NA NA NA NA 7q11.23 NA NA NA NA rs73702541 0.08 0.08 0.061 0.0770767 0.0696 NA 0.062 0.1558 0.0685 0.08 NA 0.07 0.17 0.0802 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.145746 2.145746 NA 0.079856 0.139253 NA 0.072 NA 3.770344 1283 X 150889857 150889857 C T intronic FATE1 NA NA NA intronic ENSG00000147378 NA NA NA NA NA Xq28 NA NA NA NA rs72612761 0.15 0.15 NA NA NA NA NA NA NA 0.14 0.23 0.08 0.14 0.113 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.773749 NA NA 0.116825 0.135593 NA 0.138 NA 3.770175 1283 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 1283 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 1283 15 89450546 89450546 C T exonic MFGE8 NA synonymous SNV MFGE8:NM_001114614:exon3:c.G267A:p.S89S,MFGE8:NM_005928:exon3:c.G267A:p.S89S exonic ENSG00000140545 NA synonymous SNV ENSG00000140545:ENST00000542878:exon2:c.G135A:p.S45S,ENSG00000140545:ENST00000268150:exon3:c.G267A:p.S89S,ENSG00000140545:ENST00000268151:exon3:c.G267A:p.S89S,ENSG00000140545:ENST00000558029:exon3:c.G267A:p.S89S,ENSG00000140545:ENST00000566497:exon3:c.G267A:p.S89S,ENSG00000140545:ENST00000539437:exon4:c.G243A:p.S81S NA NA 15q26.1 NA NA NA NA rs1878327 0.61 0.61 0.621 0.628994 0.6322 0.4623 0.6138 0.8011 0.5757 0.63 0.46 0.6 0.76 0.615 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 -0.881579 NA NA 0.649453 0.784091 ID=COSM147973;OCCURENCE=1(stomach) 0.739 NA 3.7700136 1283 15 101445900 101445900 G A intronic ALDH1A3 NA NA NA ncRNA_intronic ENSG00000259583 NA NA NA NA NA 15q26.3 NA NA NA NA rs3825924 0.25 0.25 0.229 0.213458 0.175 0.5089 0.2507 0.0545 0.137 0.18 0.49 0.26 0.08 0.2046 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106144 NA NA 0.183721 0.075579 NA 0.159 NA 3.7700123 1283 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 1283 17 56385145 56385145 C T intronic BZRAP1 NA NA NA intronic ENSG00000005379 NA NA NA NA NA 17q22 NA NA NA NA rs72839988 0.1 0.1 0.109 0.105032 0.0855 0.121 0.0677 0.1135 0.1237 0.08 0.12 0.06 0.11 0.0786 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636504 NA NA 0.06593 0.102587 NA 0.159 NA 3.76997 1283 12 125271090 125271090 G C intronic SCARB1 NA NA NA intronic ENSG00000073060 NA NA NA NA NA 12q24.31 NA NA NA NA rs838897 0.24 0.24 0.236 0.253594 0.0517 0.4613 0.1916 0.3964 0.0982 0.05 0.42 0.19 0.38 0.1324 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.466178 NA NA 0.046047 0.355651 NA 0.217 NA 3.769853 1283 2 187455278 187455278 C T intronic ITGAV NA NA NA intronic ENSG00000138448 NA NA NA NA NA 2q32.1 NA Name=HA-E2F1 Name=22 NA rs9333287 0.72 0.72 0.73 0.70607 0.7346 0.8413 0.7248 0.562 0.7188 0.73 0.85 0.72 0.57 0.7416 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 2.24034 2.24034 NA 0.754255 0.614168 NA 0.681 NA 3.769545 1283 2 173333840 173333840 C A intronic ITGA6 NA NA NA intronic ENSG00000091409 NA NA NA NA NA 2q31.1 NA NA NA NA rs1574028 0.04 0.04 0.027 0.0413339 0.0656 0.0119 0.0937 0.0061 0.0573 0.06 0.01 0.11 0.01 0.0762 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 1.652824 1.652824 NA 0.088721 0.020881 NA 0.022 NA 3.769479 1283 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 1283 3 172351917 172351917 T A intronic NCEH1 NA NA NA intronic ENSG00000144959 NA NA NA NA NA 3q26.31 NA NA NA NA rs66931377 0.07 0.07 0.075 0.0742812 0.0815 NA 0.0447 0.1755 0.0276 0.08 NA 0.05 0.18 0.073 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11212 NA NA 0.076413 0.160982 NA 0.072 NA 3.769087 1283 7 129916515 129916515 T C exonic CPA2 NA synonymous SNV CPA2:NM_001869:exon7:c.T633C:p.D211D exonic ENSG00000158516 NA synonymous SNV ENSG00000158516:ENST00000222481:exon7:c.T633C:p.D211D NA NA 7q32.2 NA NA NA NA rs17590 0.68 0.68 0.655 0.692292 0.6511 0.7887 0.67 0.6551 0.7014 0.65 0.76 0.64 0.66 0.6353 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 -1.122062 NA NA 0.611512 0.666818 NA 0.696 NA 3.7687546 1283 7 107799683 107799683 A G intronic NRCAM NA NA NA intronic ENSG00000091129 NA NA NA NA NA 7q31.1 NA NA NA NA rs62469173 0.07 0.07 0.073 0.0638978 0.0785 NA 0.0317 0.1415 0.0327 0.08 NA 0.04 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 0.836585 NA NA 0.083877 0.135429 NA 0.051 NA 3.768723 1283 2 54839276 54839276 A G intronic SPTBN1 NA NA NA intronic ENSG00000115306 NA NA NA NA NA 2p16.2 NA Name=FOXA1_(C-20),USF-1 Name=3 NA rs3796014 0.75 0.75 0.759 0.7502 0.7495 0.5179 0.7435 0.9728 0.6943 0.75 0.55 0.75 0.98 0.7465 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 -0.160032 NA NA 0.735349 0.92828 NA 0.819 NA 3.768651 1283 15 75144543 75144543 G A intronic SCAMP2 NA NA NA intronic ENSG00000140497 NA NA NA NA NA 15q24.1 NA NA NA NA rs2305667 0.15 0.15 0.152 0.208466 0.0557 0.1905 0.1354 0.2231 0.4162 0.06 0.2 0.14 0.22 0.1284 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.461783 NA NA 0.047497 0.193218 NA 0.116 NA 3.768403 1283 19 55672569 55672569 G A intronic DNAAF3 NA NA NA ncRNA_exonic ENSG00000267577 NA NA NA NA NA 19q13.42 NA NA NA NA rs7260371 0.21 0.21 0.225 0.227236 0.1421 0.0913 0.1455 0.5227 0.1135 0.13 0.08 0.15 0.53 0.2767 0.53 NA NA 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 0.146327 0.441339 NA 0.232 NA 3.7682063 1283 9 37740637 37740637 T C exonic FRMPD1 NA synonymous SNV FRMPD1:NM_014907:exon15:c.T2112C:p.A704A exonic ENSG00000070601 NA synonymous SNV ENSG00000070601:ENST00000541302:exon11:c.T1719C:p.A573A,ENSG00000070601:ENST00000536622:exon12:c.T1578C:p.A526A,ENSG00000070601:ENST00000377765:exon15:c.T2112C:p.A704A,ENSG00000070601:ENST00000539465:exon15:c.T2112C:p.A704A NA NA 9p13.2 NA NA NA NA rs2281872 0.6 0.6 0.597 0.621206 0.6074 0.5437 0.6484 0.6316 0.682 0.61 0.54 0.63 0.64 0.6468 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.905106 NA NA 0.644419 0.626419 NA 0.522 NA 3.7680476 1283 5 13714740 13714740 G A intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA Name=FOXA1_(C-20),GATA3_(SC-268) NA NA rs30175 0.4 0.4 0.427 0.410144 0.3946 0.4415 0.4063 0.3548 0.4714 0.41 0.4 0.4 0.38 0.4149 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122655 NA NA 0.422674 0.360645 NA 0.406 NA 3.767826 1283 11 125298890 125298890 C G intronic PKNOX2 NA NA NA intronic ENSG00000165495 NA NA NA NA NA 11q24.2 NA NA NA NA rs11220070 0.06 0.06 0.071 0.0636981 0.0875 0.004 0.0461 0.1127 0.047 0.09 0.0017 0.05 0.1 0.0681 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 2.074139 2.074139 NA 0.076722 0.096302 NA 0.051 NA 3.767678 1283 5 149006842 149006842 A G intronic ARHGEF37 NA NA NA intronic ENSG00000183111 NA NA NA NA NA 5q32 NA NA NA NA rs7732874 0.12 0.12 0.12 0.128594 0.0626 0.0843 0.049 0.2723 0.1043 0.07 0.1 0.06 0.27 0.0969 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.018102 NA NA 0.072861 0.22399 NA 0.109 NA 3.767639 1283 7 42018391 42018391 C T intronic GLI3 NA NA NA intronic ENSG00000106571 NA NA NA NA NA 7p14.1 NA NA NA NA rs17707162 0.06 0.06 0.059 0.0684904 0.0716 0.0069 0.0461 0.1271 0.0654 0.08 0.0035 0.06 0.1 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 1.673808 1.673808 NA 0.088488 0.114389 NA 0.072 NA 3.767512 1283 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 1283 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 1283 19 58115803 58115803 C A intronic ZNF530 NA NA NA intronic ENSG00000183647 NA NA NA NA NA 19q13.43 NA NA NA NA rs11881999 0.12 0.12 0.101 0.105431 0.0765 0.1617 0.098 0.1271 0.0532 0.09 0.15 0.1 0.14 0.0822 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598412 NA NA 0.074186 0.127326 NA 0.138 NA 3.767114 1283 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 1283 9 133963101 133963101 A G intronic LAMC3 NA NA NA intronic ENSG00000050555 NA NA NA NA NA 9q34.12 NA NA NA NA rs4740413 0.37 0.37 0.359 0.371206 0.4235 0.3224 0.3689 0.3026 0.4622 0.42 0.35 0.39 0.3 0.408 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018823 NA NA 0.402558 0.327281 NA 0.449 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117474.2;CLNDSDB=.;CLNDSDBID=. 3.765942 1283 20 47770461 47770461 A C intronic STAU1 NA NA NA intronic ENSG00000124214 NA NA NA NA NA 20q13.13 NA NA NA NA rs2273652 0.12 0.12 NA 0.120008 0.1501 0.1379 0.111 0.0371 0.1892 0.13 0.15 0.11 0.07 0.0754 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.504455 NA NA 0.008721 0.001589 NA 0.065 NA 3.765779 1283 15 68118194 68118194 A C intronic SKOR1 NA NA NA intronic ENSG00000188779 NA NA NA NA NA 15q23 NA NA NA NA rs4776984 0.4 0.4 0.325 0.411741 0.2346 0.5982 0.464 0.4077 0.3701 0.23 0.6 0.43 0.41 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 -0.459888 NA NA NA NA NA 0.094 NA 3.7654 1283 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 1284 17 64731813 64731813 C T intronic PRKCA NA NA NA intronic ENSG00000154229 NA NA NA NA NA 17q24.2 NA NA NA NA rs3889874 0.04 0.04 0.041 0.0379393 0.0865 NA 0.0259 0.0038 0.0818 0.09 NA 0.03 NA 0.0659 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 0.243831 NA NA 0.082674 0.017249 NA 0.08 NA 3.764926 1284 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 1284 12 122991478 122991478 C G intronic RSRC2 NA NA NA intronic ENSG00000111011 NA NA NA Score=304;Name=lod=23 NA 12q24.31 Score=800;Name=V$FREAC3_01 NA NA NA rs9988963 0.79 0.79 0.825 0.817692 0.7386 0.8552 0.6542 0.91 0.8517 0.75 0.85 0.65 0.9 0.7622 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 2.093792 2.093792 NA 0.734651 0.887653 NA 0.739 NA 3.764549 1284 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 1284 9 138454646 138454646 C G intronic PAEP NA NA NA intronic ENSG00000122133 NA NA NA NA NA 9q34.3 NA NA NA NA rs3748208 0.25 0.25 0.234 0.261382 0.0497 0.504 0.2507 0.2821 0.2086 0.05 0.5 0.25 0.27 0.1515 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.160384 NA NA 0.034767 0.228098 ID=COSN168706;OCCURENCE=1(large_intestine) 0.203 NA 3.764033 1284 17 33513591 33513591 A C UTR3 UNC45B NM_001267052:c.*13A>C,NM_001033576:c.*13A>C,NM_173167:c.*13A>C NA NA UTR3 ENSG00000141161 ENST00000378449:c.*13A>C,ENST00000433649:c.*13A>C,ENST00000268876:c.*13A>C,ENST00000394570:c.*13A>C NA NA NA NA 17q12 NA NA NA NA rs3744365 0.15 0.15 0.12 0.170727 0.173 0.1141 0.3055 0.1006 0.226 0.17 0.09 0.28 0.09 0.1944 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.05328 NA NA 0.202093 0.127553 NA 0.138 NA 3.7638404 1284 8 124138936 124138936 C T intronic WDR67 NA NA NA intronic ENSG00000156787 NA NA NA NA NA 8q24.13 NA NA NA NA rs73339621 0.05 0.05 0.026 0.0327476 0.0835 NA 0.062 0.0204 0.0102 0.08 NA 0.1 0.01 0.0657 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 0.608199 NA NA 0.087093 0.033364 NA 0.029 NA 3.763707 1284 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 1284 2 18112473 18112473 G A exonic KCNS3 NA synonymous SNV KCNS3:NM_002252:exon3:c.G198A:p.E66E exonic ENSG00000170745 NA synonymous SNV ENSG00000170745:ENST00000304101:exon3:c.G198A:p.E66E,ENSG00000170745:ENST00000403915:exon3:c.G198A:p.E66E,ENSG00000170745:ENST00000419802:exon3:c.G198A:p.E66E Score=540;Name=lod=209 NA 2p24.2 NA NA NA NA rs4240213 0.95 0.95 0.937 0.941094 0.9722 1 0.9784 0.8147 0.9928 0.97 1 0.98 0.82 0.9629 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.030647 NA NA 0.968256 0.84975 NA 0.964 NA 3.7633106 1284 11 61112802 61112802 C T exonic DAK NA synonymous SNV DAK:NM_015533:exon14:c.C1311T:p.V437V exonic ENSG00000149476 NA synonymous SNV ENSG00000149476:ENST00000534084:exon3:c.C264T:p.V88V,ENSG00000149476:ENST00000529479:exon12:c.C1308T:p.V436V,ENSG00000149476:ENST00000394900:exon14:c.C1311T:p.V437V NA NA 11q12.2 NA NA Name=28 NA rs2305465 0.83 0.83 0.798 0.790735 0.9861 0.9712 0.938 0.3956 0.8333 0.98 0.97 0.93 0.38 0.9259 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 1.035446 NA NA 0.991393 0.487517 NA 0.761 NA 3.7632736 1284 1 147131710 147131710 A C intronic ACP6 NA NA NA intronic ENSG00000162836 NA NA NA NA NA 1q21.2 NA NA NA NA rs3818888 0.15 0.15 0.144 0.132987 0.1243 0.2927 0.1124 0.0151 0.1513 0.14 0.31 0.1 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 1.028241 NA NA 0.112506 0.041667 NA 0.094 NA 3.763194 1284 21 31692377 31692377 A C UTR5 KRTAP26-1 NM_203405:c.-24T>G NA NA UTR5 ENSG00000197683 ENST00000360542:c.-24T>G NA NA NA NA 21q22.11 NA NA NA NA rs3804008 0.21 0.21 0.236 0.236621 0.175 0.0833 0.183 0.4425 0.2178 0.16 0.07 0.18 0.45 0.2285 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.589825 NA NA 0.166667 0.413133 NA 0.225 NA 3.7631664 1284 19 759864 759864 G A intronic C19orf21 NA NA NA intronic ENSG00000099812 NA NA NA NA NA 19p13.3 NA NA NA NA rs75424782 0.05 0.05 0.041 0.053115 0.0915 NA 0.0461 0.0825 0.0337 0.08 NA 0.05 0.07 0.0643 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 0.493593 NA NA 0.081047 0.096232 NA 0.043 NA 3.763153 1284 8 125575013 125575013 G A intronic MTSS1 NA NA NA intronic ENSG00000147684,ENSG00000170873 NA NA NA NA NA 8q24.13 NA NA NA NA rs4007921 0.09 0.09 0.083 0.0776757 0.0875 0.1667 0.0288 0.0257 0.0808 0.08 0.19 0.03 0.03 0.0758 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 0.558933 NA NA 0.073837 0.033818 NA 0.072 NA 3.762863 1284 4 183815561 183815561 T C intronic DCTD NA NA NA intronic ENSG00000129187 NA NA NA NA NA 4q35.1 NA NA NA NA rs17331744 0.18 0.18 0.155 0.166933 0.2376 0.2133 0.1369 0.09 0.1718 0.23 0.18 0.18 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 -0.939082 NA NA NA NA NA 0.203 NA 3.7624 1284 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 1284 18 8784370 8784370 A G exonic SOGA2 NA synonymous SNV SOGA2:NM_015210:exon6:c.A1260G:p.E420E exonic ENSG00000168502 NA synonymous SNV ENSG00000168502:ENST00000520495:exon2:c.A786G:p.E262E,ENSG00000168502:ENST00000306329:exon5:c.A2340G:p.E780E,ENSG00000168502:ENST00000517570:exon5:c.A1260G:p.E420E,ENSG00000168502:ENST00000359865:exon6:c.A1260G:p.E420E,ENSG00000168502:ENST00000400050:exon6:c.A1260G:p.E420E NA NA 18p11.22 Score=764;Name=V$PAX4_04 NA NA NA rs918272 0.94 0.94 0.928 0.915935 0.9742 0.9623 0.9539 0.7882 0.954 0.98 0.95 0.96 0.84 0.9574 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 -1.814464 NA NA 0.972668 0.873524 NA 0.884 NA 3.7623986 1284 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 1284 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 1284 15 100331282 100331282 C T ncRNA_exonic DNM1P46 NA NA NA ncRNA_exonic ENSG00000182397 NA NA NA NA NA 15q26.3 NA NA NA NA rs1060456 0.36 0.36 0.297 0.370008 0.2913 0.499 0.2983 0.3245 0.4305 0.28 0.47 0.35 0.36 0.3264 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442803 NA NA 0.286791 0.313927 NA 0.384 NA 3.7621756 1284 8 90926472 90926472 T A intronic OSGIN2 NA NA NA intronic ENSG00000164823 NA NA NA NA NA 8q21.3 NA NA NA NA rs28507172 0.24 0.24 0.209 0.273163 0.0577 0.2371 0.2032 0.5726 0.1769 0.05 0.25 0.22 0.53 0.1438 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.222508 NA NA 0.036332 0.371317 NA 0.188 NA 3.762168 1284 14 56107051 56107051 G A intronic KTN1 NA NA NA intronic ENSG00000126777 NA NA NA NA NA 14q22.3 NA NA NA NA rs2296181 0.05 0.05 0.05 0.0621006 0.0626 0.0159 0.0749 0.0514 0.1145 0.07 0.01 0.07 0.06 0.0813 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 -0.415064 NA NA 0.094079 0.058973 NA 0.022 NA 3.762021 1284 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 1284 20 10639385 10639385 A G intronic JAG1 NA NA NA intronic ENSG00000101384 NA NA NA NA NA 20p12.2 NA NA Name=11 NA rs2273060 0.46 0.46 0.434 0.457668 0.3976 0.4563 0.4798 0.4554 0.5082 0.41 0.43 0.54 0.49 0.4375 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.680105 NA NA 0.40314 0.464821 NA 0.377 NA 3.76176 1284 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 1284 7 131864591 131864591 T C exonic PLXNA4 NA synonymous SNV PLXNA4:NM_020911:exon20:c.A3729G:p.A1243A exonic ENSG00000221866 NA synonymous SNV ENSG00000221866:ENST00000321063:exon20:c.A3729G:p.A1243A,ENSG00000221866:ENST00000359827:exon20:c.A3729G:p.A1243A NA NA 7q32.3 NA NA NA NA rs3734989 0.72 0.72 0.74 0.782348 0.6133 0.6329 0.7305 0.9803 0.8793 0.61 0.65 0.72 0.97 0.677 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 0.725949 NA NA 0.614963 0.91979 ID=COSM1568624,COSM1568623;OCCURENCE=1(large_intestine) 0.638 NA 3.7614036 1284 6 52843429 52843429 A G intronic GSTA4 NA NA NA intronic ENSG00000170899 NA NA NA NA NA 6p12.2 NA NA NA NA rs3734431 0.09 0.09 0.076 0.0764776 0.1054 0.0605 0.0879 0.0658 0.0695 0.11 0.06 0.12 0.06 0.0802 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 0.259374 NA NA 0.053256 0.052202 NA 0.058 NA 3.761144 1284 7 148506363 148506363 T G intronic EZH2 NA NA NA intronic ENSG00000106462 NA NA NA NA NA 7q36.1 NA NA NA NA rs10268879 0.11 0.11 0.12 0.113618 0.0706 0.002 0.0764 0.2927 0.0573 0.07 NA 0.09 0.31 0.0846 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369626 NA NA 0.083953 0.285066 NA 0.138 NA 3.760847 1284 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 1284 20 4776445 4776445 G A intronic RASSF2 NA NA NA intronic ENSG00000101265 NA NA NA NA NA 20p13 NA Name=ZNF263 NA NA rs2423004 0.45 0.45 0.444 0.424521 0.4304 0.4821 0.4496 0.4644 0.2873 0.42 0.51 0.41 0.48 0.4103 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525068 NA NA 0.398488 0.465275 NA 0.594 NA 3.760812 1284 7 148700849 148700849 C T UTR3 PDIA4 NM_004911:c.*37G>A NA NA UTR3 ENSG00000155660 ENST00000286091:c.*37G>A NA NA NA NA 7q36.1 NA NA NA NA rs9065 0.16 0.16 0.168 0.154952 0.2147 0.005 0.1354 0.2383 0.1493 0.22 0.0035 0.14 0.25 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 0.211879 NA NA 0.190465 0.227644 NA 0.123 NA 3.7607684 1284 19 6309687 6309687 G A intronic ACER1 NA NA NA intronic ENSG00000167769 NA NA NA NA NA 19p13.3 NA NA NA NA rs28666483 0.1 0.1 0.1 0.105232 0.0696 0.1022 0.1225 0.1309 0.0982 0.08 0.1 0.09 0.13 0.0906 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.803218 NA NA 0.079419 0.118248 NA 0.181 NA 3.760381 1284 10 17747053 17747053 G C intronic STAM NA NA NA intronic ENSG00000136738 NA NA NA NA NA 10p12.33 NA NA NA NA rs4748405 0.08 0.08 0.063 0.063099 0.0885 0.0546 0.0908 0.0575 0.0337 0.09 0.05 0.12 0.06 0.0756 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 0.16803 NA NA 0.075698 0.0665 NA 0.043 NA 3.760202 1284 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 1284 19 6380733 6380733 A G intronic GTF2F1 NA NA NA intronic ENSG00000125651 NA NA NA NA NA 19p13.3 NA NA NA NA rs45580335 0.04 0.04 0.029 0.0273562 0.0895 0.001 0.0274 0.0038 0.0225 0.08 0.0017 0.03 0.01 0.0608 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 -0.15775 NA NA 0.09 0.018157 NA 0.036 NA 3.7597 1284 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 1284 7 44561635 44561635 C T intronic NPC1L1 NA NA NA intronic ENSG00000015520 NA NA NA NA NA 7p13 NA NA NA NA rs35349497 0.04 0.04 0.036 0.0271565 0.0915 0.001 0.0476 0.0015 0.0082 0.09 NA 0.06 NA 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 -1.360397 NA NA 0.089535 0.019519 NA 0.065 NA 3.759165 1284 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 1284 15 55497691 55497691 G A UTR3 RAB27A NM_004580:c.*14C>T,NM_183236:c.*14C>T,NM_183235:c.*14C>T,NM_183234:c.*14C>T NA NA UTR3 ENSG00000069974 ENST00000396307:c.*14C>T,ENST00000336787:c.*14C>T,ENST00000564609:c.*14C>T,ENST00000569493:c.*14C>T NA NA NA NA 15q21.3 NA NA NA NA rs1050931 0.23 0.23 0.259 0.264776 0.1879 0.129 0.1311 0.5393 0.2076 0.18 0.14 0.13 0.5 0.2007 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.737912 1.737912 NA 0.185811 0.47834 ID=COSN164951;OCCURENCE=1(breast) 0.225 NA 3.7589224 1284 2 219941063 219941063 G A UTR3 NHEJ1 NM_024782:c.*40C>T NA NA exonic ENSG00000187736 NA synonymous SNV ENSG00000187736:ENST00000409720:exon7:c.C930T:p.N310N NA NA 2q35 NA NA Name=4 NA rs897477 0.65 0.65 0.635 0.638379 0.7644 0.4375 0.6484 0.702 0.6227 0.78 0.45 0.64 0.66 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 0.982682 NA NA 0.76593 0.689968 NA 0.703 NA 3.75877 1284 11 60785352 60785352 A G exonic CD6 NA synonymous SNV CD6:NM_001254750:exon10:c.A1608G:p.S536S,CD6:NM_001254751:exon10:c.A1581G:p.S527S,CD6:NM_006725:exon11:c.A1704G:p.S568S exonic ENSG00000013725 NA synonymous SNV ENSG00000013725:ENST00000346437:exon9:c.A1485G:p.S495S,ENSG00000013725:ENST00000344028:exon10:c.A1608G:p.S536S,ENSG00000013725:ENST00000352009:exon10:c.A1608G:p.S536S,ENSG00000013725:ENST00000452451:exon10:c.A1581G:p.S527S,ENSG00000013725:ENST00000313421:exon11:c.A1704G:p.S568S NA NA 11q12.2 NA NA NA NA rs1050922 0.49 0.49 0.467 0.466853 0.6849 0.1736 0.4236 0.6407 0.3405 0.67 0.15 0.49 0.6 0.5549 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 -1.10787 NA NA 0.668179 0.649115 NA 0.529 NA 3.7586876 1284 17 3994002 3994002 C T intronic ZZEF1 NA NA NA intronic ENSG00000074755 NA NA NA NA NA 17p13.2 NA NA NA NA rs76563627 0.07 0.07 0.059 0.0758786 0.0845 0.0615 0.121 0.0061 0.1442 0.09 0.06 0.11 0.01 0.0863 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 2.871256 2.871256 NA 0.070581 0.01498 NA 0.08 NA 3.758619 1284 19 1095336 1095336 C T UTR5 POLR2E NM_002695:c.-22G>A NA NA UTR5 ENSG00000099817 ENST00000586746:c.-22G>A,ENST00000215587:c.-22G>A,ENST00000589737:c.-22G>A NA NA NA NA 19p13.3 NA Name=HEY1,ETS1,Pol2-4H8,TAF1,HMGN3,NFKB,Pol2,Pol2(phosphoS2),YY1,ELK4,CCNT2,TBP,Mxi1_(bHLH),Sin3Ak-20,E2F4,SP1,Nrf1,IRF1,Max,YY1_(C-20) NA NA rs1046041 0.61 0.61 0.626 0.642572 0.5149 0.622 0.6095 0.8427 0.5481 0.5 0.63 0.55 0.82 0.5505 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 1.305464 1.305464 NA 0.509405 0.774622 NA 0.377 NA 3.7585284 1284 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 1284 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 1284 3 193361917 193361917 G A intronic OPA1 NA NA NA intronic ENSG00000198836 NA NA NA NA NA 3q29 NA NA NA NA rs77303706 0.04 0.04 0.047 0.0315495 0.0885 NA 0.0259 0.0219 0.0225 0.09 NA 0.02 0.03 0.0661 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 -0.130188 NA NA 0.087093 0.023831 NA 0.014 NA 3.758307 1284 8 124152970 124152970 A C intronic WDR67 NA NA NA intronic ENSG00000156787 NA NA NA NA NA 8q24.13 NA NA NA NA rs62521803 0.05 0.05 0.028 0.0327476 0.0835 NA 0.062 0.0204 0.0102 0.08 NA 0.1 0.01 0.0707 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 -0.777566 NA NA 0.087599 0.033045 NA 0.029 NA 3.758201 1284 12 133683261 133683261 T C UTR3 ZNF140 NM_003440:c.*24T>C NA NA UTR3 ENSG00000196387 ENST00000355557:c.*24T>C,ENST00000544426:c.*24T>C,ENST00000440550:c.*977T>C,ENST00000536790:c.*1225T>C NA NA NA NA 12q24.33 NA Name=SETDB1,KAP1,ZNF274 NA NA rs905226 0.39 0.39 0.379 0.408946 0.5417 0.2331 0.3876 0.3759 0.5133 0.55 0.2 0.41 0.36 0.4952 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.454279 NA NA 0.53848 0.391566 NA 0.319 NA 3.7579534 1284 19 6381700 6381700 G A intronic GTF2F1 NA NA NA intronic ENSG00000125651 NA NA NA NA NA 19p13.3 NA NA NA NA rs78149805 0.04 0.04 0.027 0.0275559 0.0905 0.001 0.0274 0.0038 0.0225 0.08 0.0017 0.03 0.01 0.0605 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 -1.652047 NA NA 0.091047 0.018611 NA 0.036 NA 3.757953 1284 17 56383690 56383690 G A intronic BZRAP1 NA NA NA intronic ENSG00000005379 NA NA NA NA NA 17q22 NA NA NA NA rs72839985 0.08 0.08 0.067 0.0806709 0.0895 0.1161 0.062 0.0303 0.1166 0.09 0.11 0.06 0.03 0.0905 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 1.269992 1.269992 NA 0.062203 0.031509 NA 0.13 NA 3.757797 1284 9 137677921 137677921 C T intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs13301426 0.05 0.05 0.049 0.0609026 0.0805 0.0298 0.0519 0.087 0.044 0.08 0.02 0.04 0.07 0.0864 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 -0.491779 NA NA 0.075634 0.07 NA 0.087 NA 3.757466 1284 17 4076615 4076615 C T intronic ANKFY1 NA NA NA intronic ENSG00000167740,ENSG00000185722 NA NA NA NA NA 17p13.2 NA NA NA NA rs3816480 0.07 0.07 0.053 0.0808706 0.0865 0.0427 0.1297 0.0189 0.1636 0.09 0.04 0.12 0.03 0.0889 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 -0.377443 NA NA 0.067417 0.022384 NA 0.08 NA 3.757183 1284 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 1284 17 73570915 73570915 C T intronic LLGL2 NA NA NA intronic ENSG00000073350 NA NA NA NA NA 17q25.1 NA NA NA NA rs75909267 0.06 0.06 0.058 0.0553115 0.0895 0.1111 0.0519 0.0053 0.0327 0.09 0.08 0.06 0.01 0.0657 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 0.219351 NA NA 0.088488 0.018611 NA 0.094 NA 3.756312 1284 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 1284 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 1284 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 1284 19 55177929 55177929 G A intronic LILRB4 NA NA NA intronic ENSG00000186818 NA NA NA NA NA 19q13.42 NA NA NA NA rs760186 0.23 0.23 0.243 0.241214 0.0616 0.4425 0.0634 0.3139 0.2464 0.06 0.45 0.08 0.36 0.1276 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.48137 NA NA 0.055 0.269178 ID=COSN165953;OCCURENCE=1(breast) 0.203 NA 3.7558 1284 2 62066927 62066927 A G exonic FAM161A NA synonymous SNV FAM161A:NM_001201543:exon3:c.T1212C:p.C404C,FAM161A:NM_032180:exon3:c.T1212C:p.C404C exonic ENSG00000170264 NA synonymous SNV ENSG00000170264:ENST00000404929:exon3:c.T1212C:p.C404C,ENSG00000170264:ENST00000405894:exon3:c.T1212C:p.C404C NA NA 2p15 NA NA NA NA rs4672457 0.98 0.98 0.984 0.979633 0.9632 0.999 0.9438 0.9962 0.9796 0.97 1 0.96 0.99 0.9759 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.088482 NA NA 0.971941 0.996449 NA 0.993 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082296.1;CLNDSDB=.;CLNDSDBID=. 3.7556256 1284 6 33172905 33172905 T C intronic HSD17B8 NA NA NA intronic ENSG00000204228 NA NA NA NA NA 6p21.32 NA Name=Sin3Ak-20 Name=94 NA rs365339 0.84 0.84 0.842 0.878395 0.7286 0.9772 0.7983 0.9175 0.9346 0.72 0.98 0.79 0.91 0.7866 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 1.185279 NA NA 0.729221 0.863817 NA 0.804 NA 3.755579 1284 14 64681193 64681193 C T intronic SYNE2 NA NA NA intronic ENSG00000054654,ENSG00000140009 NA NA NA NA NA 14q23.2 NA NA NA NA rs1152590 0.56 0.56 0.575 0.583267 0.3917 0.7093 0.4193 0.8185 0.4489 0.38 0.67 0.41 0.84 0.4702 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 -0.874078 NA NA 0.382791 0.753745 NA 0.507 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118529.1;CLNDSDB=.;CLNDSDBID=. 3.755309 1284 1 99225627 99225627 G A exonic SNX7 NA synonymous SNV SNX7:NM_152238:exon8:c.G1131A:p.E377E,SNX7:NM_015976:exon9:c.G1296A:p.E432E exonic ENSG00000162627 NA synonymous SNV ENSG00000162627:ENST00000529992:exon8:c.G1131A:p.E377E,ENSG00000162627:ENST00000306121:exon9:c.G1296A:p.E432E,ENSG00000162627:ENST00000370189:exon9:c.G951A:p.E317E Score=489;Name=lod=130 NA 1p21.3 NA NA NA NA rs2019213 0.86 0.86 0.863 0.875399 0.9871 0.6657 0.9078 0.8661 0.9663 0.99 0.65 0.91 0.87 0.9378 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 0.525219 NA NA 0.986628 0.901498 NA 0.891 NA 3.7551386 1285 5 154065496 154065496 G C intergenic MIR3141,LARP1 dist=89864;dist=26966 NA NA downstream ENSG00000221552 NA NA NA NA NA 5q33.2 NA NA Name=4 NA rs4958759 0.75 0.75 0.774 0.760982 0.7455 0.6855 0.6311 0.9221 0.729 0.73 0.67 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 -0.205176 NA NA NA NA NA 0.435 NA 3.7545 1285 11 66333643 66333643 G A intronic CTSF NA NA NA intronic ENSG00000174080 NA NA NA NA NA 11q13.2 NA NA NA NA rs78871927 0.08 0.08 0.055 0.0706869 0.0835 0.128 0.0591 0.003 0.0982 0.1 0.14 0.07 0.0041 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 0.355358 NA NA 0.074971 0.017273 ID=COSM147276;OCCURENCE=1(stomach) 0.101 NA 3.754229 1285 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 1285 18 19427096 19427096 A G intronic MIB1 NA NA NA intronic ENSG00000101752 NA NA NA NA NA 18q11.2 NA NA NA NA rs11877131 0.08 0.08 0.078 0.0878594 0.0755 0.0298 0.0778 0.1566 0.0746 0.07 0.02 0.11 0.15 0.0857 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.527356 1.527356 NA 0.084767 0.129823 NA 0.109 NA 3.754033 1285 1 245772529 245772529 A G intronic KIF26B NA NA NA intronic ENSG00000162849 NA NA NA NA NA 1q44 NA NA NA NA rs7555351 0.13 0.13 0.116 0.126198 0.0815 0.2024 0.2248 0.087 0.0767 0.08 0.2 0.2 0.08 0.0997 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.51997 NA NA 0.064974 0.07838 NA 0.065 NA 3.753826 1285 10 97607165 97607165 G A ncRNA_exonic ENTPD1-AS1 NA NA NA ncRNA_exonic ENSG00000226688 NA NA NA NA NA 10q24.1 NA NA NA NA rs3181122 0.18 0.18 0.158 0.167732 0.2903 0.0317 0.415 0.0144 0.2137 0.29 0.04 0.38 0.02 0.2802 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.575237 NA NA 0.342558 0.064911 NA 0.196 NA 3.7536086 1285 15 22963733 22963733 C T intronic CYFIP1 NA NA NA intronic ENSG00000068793 NA NA NA NA NA 15q11.2 NA NA NA NA rs72698056 0.08 0.08 0.057 0.0804712 0.0736 0.121 0.1427 0.0098 0.0971 0.07 0.14 0.12 0.01 0.0837 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.262856 NA NA 0.089186 0.023831 NA 0.072 NA 3.753514 1285 11 126201238 126201238 G T intronic DCPS NA NA NA intronic ENSG00000110063 NA NA NA NA NA 11q24.2 NA NA NA NA rs651983 0.23 0.23 0.211 0.230831 0.2465 0.2054 0.2695 0.2163 0.2331 0.27 0.18 0.28 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 0.497195 NA NA NA NA ID=COSN164090;OCCURENCE=1(breast) 0.21 NA 3.7535 1285 19 4297925 4297925 G C intronic TMIGD2 NA NA NA intronic ENSG00000167664 NA NA NA NA NA 19p13.3 NA NA NA NA rs12459030 0.21 0.21 0.189 0.207468 0.2465 0.2817 0.2896 0.0734 0.2137 0.23 0.27 0.29 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 -0.165647 NA NA NA NA NA 0.261 NA 3.7535 1285 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 1285 11 5510626 5510626 T C exonic OR52D1 NA synonymous SNV OR52D1:NM_001005163:exon1:c.T690C:p.H230H exonic ENSG00000181609 NA synonymous SNV ENSG00000181609:ENST00000322641:exon1:c.T690C:p.H230H NA NA 11p15.4 NA Name=Pol2(b) NA NA rs444878 0.94 0.94 0.929 0.948482 0.9742 0.9246 0.9712 0.9107 0.9816 0.97 0.91 0.97 0.88 0.9689 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 -1.680394 NA NA 0.970328 0.93821 NA 0.913 NA 3.7532386 1285 11 5510284 5510284 A G exonic OR52D1 NA synonymous SNV OR52D1:NM_001005163:exon1:c.A348G:p.S116S exonic ENSG00000181609 NA synonymous SNV ENSG00000181609:ENST00000322641:exon1:c.A348G:p.S116S NA NA 11p15.4 NA Name=Pol2-4H8 NA NA rs417425 0.94 0.94 0.937 0.950479 0.9742 0.9246 0.9726 0.9175 0.9816 0.97 0.91 0.97 0.9 0.9694 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 -1.492026 NA NA 0.970444 0.94298 NA 0.913 NA 3.7526226 1285 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 1285 22 36691607 36691607 A C exonic MYH9 NA synonymous SNV MYH9:NM_002473:exon26:c.T3429G:p.A1143A exonic ENSG00000100345 NA synonymous SNV ENSG00000100345:ENST00000216181:exon26:c.T3429G:p.A1143A NA NA 22q12.3 NA NA NA NA rs710181 0.98 0.98 0.975 0.982628 0.9682 0.999 0.987 0.9705 0.9939 0.97 1 0.98 0.98 0.9766 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155881 NA NA 0.970233 0.973218 NA 0.986 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037556.1;CLNDSDB=.;CLNDSDBID=. 3.7516336 1285 2 48898798 48898798 T A exonic GTF2A1L,STON1-GTF2A1L NA synonymous SNV GTF2A1L:NM_001193487:exon7:c.T1206A:p.V402V,STON1-GTF2A1L:NM_001198594:exon7:c.T3279A:p.V1093V,GTF2A1L:NM_006872:exon8:c.T1308A:p.V436V,STON1-GTF2A1L:NM_001198593:exon10:c.T3420A:p.V1140V,STON1-GTF2A1L:NM_172311:exon10:c.T3420A:p.V1140V exonic ENSG00000068781,ENSG00000242441 NA synonymous SNV ENSG00000242441:ENST00000508440:exon2:c.T255A:p.V85V,ENSG00000068781:ENST00000394751:exon7:c.T3279A:p.V1093V,ENSG00000242441:ENST00000430487:exon7:c.T1206A:p.V402V,ENSG00000242441:ENST00000403751:exon8:c.T1308A:p.V436V,ENSG00000068781:ENST00000309827:exon9:c.T3420A:p.V1140V,ENSG00000068781:ENST00000394754:exon10:c.T3420A:p.V1140V,ENSG00000068781:ENST00000402114:exon10:c.T3420A:p.V1140V,ENSG00000068781:ENST00000405008:exon10:c.T3420A:p.V1140V Score=540;Name=lod=209 NA 2p16.3 NA NA NA NA rs3920390 0.99 0.99 0.989 0.985024 0.9712 1 0.9957 0.9985 0.9581 0.97 1 0.99 1 0.9739 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.276283 1.276283 NA 0.970233 0.995007 NA 0.993 NA 3.7513336 1285 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 1285 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 1285 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 1285 15 66170080 66170080 A G intronic RAB11A NA NA NA intronic ENSG00000103769 NA NA NA NA NA 15q22.31 NA NA NA NA rs74845010 0.04 0.04 0.034 0.0317492 0.0974 0.001 0.0447 0.0038 0.0245 0.1 0.0017 0.06 0.0041 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 -1.012723 NA NA 0.088393 0.023409 NA 0.029 NA 3.750407 1285 15 25307562 25307562 A G ncRNA_exonic SNORD116-5,SNORD116-7 NA NA NA ncRNA_exonic ENSG00000207191 NA NA NA NA NA 15q11.2 NA Name=ZNF274 NA NA rs7402542 0.97 0.97 0.97 0.969649 0.9543 0.9931 0.9712 0.9788 0.9479 0.95 0.99 0.97 0.98 0.962 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 -0.758062 NA NA NA NA NA 0.986 NA 3.7503666 1285 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 1285 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 1285 17 3966243 3966243 G A intronic ZZEF1 NA NA NA intronic ENSG00000074755 NA NA NA NA NA 17p13.2 NA NA NA NA rs781824 0.12 0.12 0.114 0.132788 0.0815 0.0615 0.1398 0.2171 0.1401 0.09 0.06 0.13 0.22 0.1052 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.86087 NA NA 0.063372 0.224694 NA 0.138 NA 3.749928 1285 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 1285 10 294953 294953 A G exonic ZMYND11 NA synonymous SNV ZMYND11:NM_001202465:exon12:c.A1356G:p.E452E,ZMYND11:NM_001202467:exon12:c.A1449G:p.E483E,ZMYND11:NM_001202464:exon13:c.A1449G:p.E483E,ZMYND11:NM_001202466:exon13:c.A1446G:p.E482E,ZMYND11:NM_001202468:exon13:c.A1611G:p.E537E,ZMYND11:NM_006624:exon14:c.A1611G:p.E537E,ZMYND11:NM_212479:exon14:c.A1608G:p.E536E exonic ENSG00000015171 NA synonymous SNV ENSG00000015171:ENST00000535374:exon9:c.A996G:p.E332E,ENSG00000015171:ENST00000545619:exon10:c.A1251G:p.E417E,ENSG00000015171:ENST00000602682:exon11:c.A1356G:p.E452E,ENSG00000015171:ENST00000397959:exon12:c.A1356G:p.E452E,ENSG00000015171:ENST00000403354:exon12:c.A1371G:p.E457E,ENSG00000015171:ENST00000381607:exon13:c.A1329G:p.E443E,ENSG00000015171:ENST00000402736:exon13:c.A1518G:p.E506E,ENSG00000015171:ENST00000558098:exon13:c.A1611G:p.E537E,ENSG00000015171:ENST00000309776:exon14:c.A1491G:p.E497E,ENSG00000015171:ENST00000381584:exon14:c.A1560G:p.E520E,ENSG00000015171:ENST00000381591:exon14:c.A1611G:p.E537E,ENSG00000015171:ENST00000381602:exon14:c.A1491G:p.E497E,ENSG00000015171:ENST00000381604:exon14:c.A1491G:p.E497E,ENSG00000015171:ENST00000397962:exon14:c.A1611G:p.E537E,ENSG00000015171:ENST00000509513:exon14:c.A1608G:p.E536E Score=709;Name=lod=1016 NA 10p15.3 NA NA NA NA rs1017361 0.94 0.94 0.94 0.935903 0.9781 0.9454 0.9164 0.8805 0.9714 0.98 0.96 0.92 0.89 0.9615 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 -0.100233 NA NA 0.978372 0.898547 NA 0.957 NA 3.7486946 1285 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 1285 1 168165888 168165888 T G intronic TIPRL NA NA NA intronic ENSG00000143155 NA NA NA NA NA 1q24.2 NA NA NA NA rs16860183 0.08 0.08 0.077 0.0626997 0.0974 NA 0.0764 0.112 0.0153 0.09 NA 0.1 0.13 0.0727 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.92849 NA NA 0.081279 0.101906 NA 0.051 NA 3.748621 1285 7 80374438 80374438 T C exonic SEMA3C NA synonymous SNV SEMA3C:NM_006379:exon18:c.A2028G:p.P676P exonic ENSG00000075223 NA synonymous SNV ENSG00000075223:ENST00000265361:exon18:c.A2028G:p.P676P,ENSG00000075223:ENST00000419255:exon18:c.A2028G:p.P676P,ENSG00000075223:ENST00000544525:exon18:c.A2082G:p.P694P NA NA 7q21.11 Score=796;Name=V$OLF1_01 NA NA NA rs1949972 0.85 0.85 0.817 0.84405 0.9891 0.7698 0.8991 0.6921 0.9376 0.99 0.78 0.91 0.66 0.9386 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 1.075696 NA NA 0.990465 0.736496 NA 0.877 NA 3.7485016 1285 6 32975720 32975720 G A intronic HLA-DOA NA NA NA intronic ENSG00000204252 NA NA NA NA NA 6p21.32 NA NA NA NA rs369150 0.22 0.22 0.218 0.188898 0.2515 0.3542 0.1239 0.0658 0.1667 0.25 0.32 0.14 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 0.485811 NA NA NA NA NA 0.188 NA 3.7485 1285 10 133951707 133951707 G A intronic JAKMIP3 NA NA NA intronic ENSG00000188385 NA NA NA NA NA 10q26.3 NA NA NA NA rs2814179 0.07 0.07 0.066 0.0555112 0.0885 NA 0.098 0.0719 0.0266 0.09 NA 0.12 0.09 0.0751 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 0.382088 NA NA 0.088033 0.05962 NA 0.13 NA 3.748367 1285 6 76369054 76369054 A G exonic SENP6 NA synonymous SNV SENP6:NM_001100409:exon7:c.A606G:p.R202R,SENP6:NM_015571:exon8:c.A627G:p.R209R exonic ENSG00000112701 NA synonymous SNV ENSG00000112701:ENST00000424947:exon5:c.A297G:p.R99R,ENSG00000112701:ENST00000327284:exon7:c.A606G:p.R202R,ENSG00000112701:ENST00000370010:exon7:c.A606G:p.R202R,ENSG00000112701:ENST00000370014:exon8:c.A627G:p.R209R,ENSG00000112701:ENST00000447266:exon8:c.A627G:p.R209R,ENSG00000112701:ENST00000483859:exon8:c.A297G:p.R99R Score=381;Name=lod=47 NA 6q14.1 NA NA NA NA rs507662 0.88 0.88 0.872 0.895767 0.9781 0.877 0.9798 0.7337 0.9898 0.97 0.86 0.97 0.68 0.9594 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 1.055902 NA NA 0.980854 0.795246 NA 0.862 NA 3.7483126 1285 11 66328852 66328852 G C intronic ACTN3 NA NA NA intronic ENSG00000248746 NA NA NA NA NA 11q13.2 NA NA NA NA rs2290463 0.08 0.08 0.06 0.0706869 0.0835 0.129 0.0591 0.003 0.0971 0.1 0.14 0.07 0.0041 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 -1.223254 NA NA 0.072706 0.01564 NA 0.101 NA 3.748194 1285 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 1285 12 71960208 71960208 G A exonic LGR5 NA synonymous SNV LGR5:NM_001277226:exon8:c.G810A:p.Q270Q,LGR5:NM_001277227:exon8:c.G666A:p.Q222Q,LGR5:NM_003667:exon9:c.G882A:p.Q294Q exonic ENSG00000139292 NA synonymous SNV ENSG00000139292:ENST00000536515:exon8:c.G666A:p.Q222Q,ENSG00000139292:ENST00000540815:exon8:c.G810A:p.Q270Q,ENSG00000139292:ENST00000266674:exon9:c.G882A:p.Q294Q Score=596;Name=lod=353 NA 12q21.1 NA NA NA NA rs1797372 0.91 0.91 0.893 0.872005 0.9841 0.995 0.9611 0.5915 0.9458 0.99 1 0.96 0.63 0.9504 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.786888 NA NA 0.984182 0.633515 NA 0.833 NA 3.7479846 1285 17 73564968 73564968 G A intronic LLGL2 NA NA NA intronic ENSG00000073350 NA NA NA NA NA 17q25.1 NA NA NA NA rs77637305 0.09 0.09 0.079 0.0858626 0.0895 0.1131 0.0648 0.1127 0.0327 0.09 0.08 0.08 0.11 0.0759 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 2.02678 2.02678 NA 0.086901 0.100817 NA 0.13 NA 3.747699 1285 16 68395094 68395094 G A UTR3 SMPD3 NM_018667:c.*15C>T NA NA UTR3 ENSG00000103056 ENST00000219334:c.*15C>T,ENST00000574662:c.*480C>T,ENST00000568373:c.*15C>T,ENST00000563226:c.*15C>T NA NA NA NA 16q22.1 NA NA Name=3 NA rs2279539 0.59 0.59 0.552 0.55631 0.495 0.7698 0.6095 0.4448 0.5123 0.5 0.79 0.59 0.48 0.5594 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 -0.771465 NA NA 0.531286 0.471767 NA 0.457 NA 3.7476474 1285 12 10206925 10206925 A G exonic CLEC9A NA synonymous SNV CLEC9A:NM_207345:exon5:c.A147G:p.T49T exonic ENSG00000197992 NA synonymous SNV ENSG00000197992:ENST00000355819:exon5:c.A147G:p.T49T NA NA 12p13.2 NA NA NA NA rs7315231 0.43 0.43 0.404 0.373802 0.6759 0.2123 0.5231 0.2216 0.3292 0.67 0.2 0.54 0.27 0.5561 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 -0.812651 NA NA 0.687093 0.288924 NA 0.391 NA 3.7475736 1285 1 65311116 65311116 G C intronic JAK1 NA NA NA intronic ENSG00000162434 NA NA NA NA NA 1p31.3 NA NA NA NA rs2780821 0.3 0.3 NA 0.370807 0.2525 0.2996 0.3199 0.6536 0.2198 0.2 0.22 0.28 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 -0.435008 NA NA NA NA NA NA NA 3.7475 1285 1 65311117 65311117 C T intronic JAK1 NA NA NA intronic ENSG00000162434 NA NA NA NA NA 1p31.3 NA NA NA NA rs2780896 0.3 0.3 NA 0.372404 0.2525 0.2996 0.3199 0.6596 0.2198 0.2 0.22 0.28 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 0.816789 NA NA NA NA NA NA NA 3.7475 1285 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 1285 12 14794062 14794062 G A exonic GUCY2C NA synonymous SNV GUCY2C:NM_004963:exon18:c.C2022T:p.I674I exonic ENSG00000070019 NA synonymous SNV ENSG00000070019:ENST00000261170:exon18:c.C2022T:p.I674I Score=445;Name=lod=86 NA 12p13.1 NA NA NA NA rs10772800 0.86 0.86 0.846 0.823482 0.992 0.9911 0.951 0.3896 0.9734 0.99 0.99 0.95 0.45 0.9411 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 1.316042 1.316042 NA 0.986163 0.494553 NA 0.783 NA 3.7474036 1285 2 220085845 220085845 A G exonic ATG9A NA synonymous SNV ATG9A:NM_024085:exon13:c.T2325C:p.T775T,ATG9A:NM_001077198:exon14:c.T2325C:p.T775T exonic ENSG00000198925 NA synonymous SNV ENSG00000198925:ENST00000409422:exon12:c.T2142C:p.T714T,ENSG00000198925:ENST00000396761:exon13:c.T2325C:p.T775T,ENSG00000198925:ENST00000361242:exon14:c.T2325C:p.T775T,ENSG00000198925:ENST00000409618:exon14:c.T2325C:p.T775T NA NA 2q35 Score=811;Name=V$HEN1_01 NA NA NA rs2276633 0.87 0.87 0.864 0.869409 0.9821 0.9077 0.9625 0.6195 0.9857 0.98 0.89 0.96 0.62 0.9505 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.44249 NA NA 0.987073 0.690312 NA 0.877 NA 3.7469936 1285 12 124267703 124267703 T C exonic DNAH10 NA synonymous SNV DNAH10:NM_207437:exon7:c.T708C:p.S236S exonic ENSG00000197653 NA synonymous SNV ENSG00000197653:ENST00000409039:exon7:c.T708C:p.S236S NA NA 12q24.31 NA NA NA NA rs11057355 0.79 0.79 0.781 0.801318 0.6451 0.996 0.7262 0.8321 0.773 0.64 1 0.73 0.83 0.6702 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.47632 1.47632 NA 0.604651 0.788016 NA 0.667 NA 3.7467156 1285 9 115600848 115600848 T C exonic SNX30 NA synonymous SNV SNX30:NM_001012994:exon6:c.T885C:p.A295A exonic ENSG00000148158 NA synonymous SNV ENSG00000148158:ENST00000374232:exon6:c.T885C:p.A295A NA NA 9q32 Score=806;Name=V$OLF1_01 NA NA NA rs7023478 0.99 0.99 0.986 0.991813 0.9682 1 0.9957 1 0.9939 0.96 1 1 1 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 0.333855 NA NA 0.971184 0.996377 NA 1 NA 3.7466826 1285 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 1285 1 24200969 24200969 T C UTR3 CNR2 NM_001841:c.*56A>G NA NA UTR3 ENSG00000188822 ENST00000374472:c.*56A>G,ENST00000536471:c.*56A>G NA NA NA NA 1p36.11 NA NA NA NA rs2229584 0.64 0.64 0.675 0.653355 0.5875 0.502 0.6383 0.7943 0.6973 0.59 0.55 0.64 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 0.375171 NA NA NA NA NA 0.754 NA 3.7458334 1285 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 1285 22 38823136 38823136 T C exonic KCNJ4 NA synonymous SNV KCNJ4:NM_004981:exon2:c.A1002G:p.S334S,KCNJ4:NM_152868:exon2:c.A1002G:p.S334S exonic ENSG00000168135 NA synonymous SNV ENSG00000168135:ENST00000303592:exon2:c.A1002G:p.S334S NA NA 22q13.1 NA NA NA NA rs196059 0.74 0.74 0.758 0.809505 0.6004 0.9444 0.6758 0.8744 0.8926 0.59 0.93 0.63 0.85 0.703 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 -0.199714 NA NA 0.617818 0.840672 NA 0.725 NA 3.7454486 1285 5 10239278 10239278 C T exonic FAM173B NA synonymous SNV FAM173B:NM_001258388:exon2:c.G207A:p.P69P,FAM173B:NM_001258389:exon2:c.G207A:p.P69P,FAM173B:NM_199133:exon2:c.G207A:p.P69P exonic ENSG00000150756 NA synonymous SNV ENSG00000150756:ENST00000504390:exon2:c.G207A:p.P69P,ENSG00000150756:ENST00000506108:exon2:c.G207A:p.P69P,ENSG00000150756:ENST00000510047:exon2:c.G207A:p.P69P,ENSG00000150756:ENST00000511437:exon2:c.G207A:p.P69P NA NA 5p15.2 NA NA NA NA rs2252505 0.62 0.62 0.579 0.616014 0.6362 0.8383 0.7219 0.292 0.729 0.63 0.86 0.69 0.28 0.6524 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 -0.311542 NA NA 0.632839 0.367698 NA 0.529 NA 3.7452276 1285 18 12978733 12978733 C G intronic SEH1L NA NA NA intronic ENSG00000085415 NA NA NA NA NA 18p11.21 NA NA NA NA rs8182426 0.15 0.15 0.159 0.187899 0.0716 0.2054 0.062 0.3162 0.2055 0.08 0.16 0.08 0.3 0.1139 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.252461 NA NA 0.069302 0.277576 NA 0.217 NA 3.745198 1285 2 241066395 241066395 G A intronic MYEOV2 NA NA NA intronic ENSG00000172428 NA NA NA NA NA 2q37.3 NA NA NA NA rs76780618 0.04 0.04 0.046 0.0439297 0.0895 0.001 0.0346 0.0061 0.0992 0.09 0.0017 0.03 0.02 0.0737 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 -0.334324 NA NA 0.091748 0.018493 NA 0.029 NA 3.745052 1286 14 74567952 74567952 C T intronic LIN52 NA NA NA intronic ENSG00000205659 NA NA NA NA NA 14q24.3 NA NA NA NA rs17096314 0.09 0.09 0.082 0.124401 0.0855 0.1815 0.0908 0.0008 0.2965 0.08 0.19 0.1 NA 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 -0.066189 NA NA 0.067558 0.014072 NA 0.101 NA 3.744742 1286 6 125232333 125232333 T C ncRNA_exonic STL NA NA NA ncRNA_exonic ENSG00000236548 NA NA NA NA NA 6q22.31 NA NA NA NA rs781739 0.25 0.25 0.218 0.234824 0.2942 0.4077 0.2839 0.0113 0.2628 0.29 0.4 0.24 0.02 0.3396 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.111355 NA NA 0.288191 0.070857 NA 0.268 NA 3.7446756 1286 22 36591380 36591380 A G exonic APOL4 NA unknown UNKNOWN exonic ENSG00000100336 NA synonymous SNV ENSG00000100336:ENST00000493203:exon3:c.T186C:p.F62F,ENSG00000100336:ENST00000352371:exon4:c.T195C:p.F65F,ENSG00000100336:ENST00000404685:exon4:c.T195C:p.F65F,ENSG00000100336:ENST00000429038:exon4:c.T186C:p.F62F,ENSG00000100336:ENST00000332987:exon5:c.T186C:p.F62F,ENSG00000100336:ENST00000405511:exon5:c.T186C:p.F62F,ENSG00000100336:ENST00000419360:exon5:c.T186C:p.F62F,ENSG00000100336:ENST00000457630:exon5:c.T186C:p.F62F NA NA 22q12.3 NA NA NA NA rs2007468 0.67 0.67 0.688 0.700679 0.504 0.8502 0.5605 0.8707 0.6186 0.47 0.84 0.59 0.86 0.5704 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 -0.386148 NA NA 0.514312 0.805644 NA 0.681 NA 3.7446213 1286 9 123731408 123731408 G A intronic C5 NA NA NA intronic ENSG00000106804 NA NA NA NA NA 9q33.2 NA NA NA NA rs10985112 0.16 0.16 0.164 0.190296 0.0686 0.0317 0.0965 0.5257 0.092 0.07 0.03 0.11 0.48 0.1059 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166426 NA NA 0.08093 0.454607 NA 0.268 NA 3.74457 1286 5 54557146 54557146 C T intronic DHX29 NA NA NA ncRNA_intronic ENSG00000251307 NA NA NA NA NA 5q11.2 NA NA NA NA rs231365 0.18 0.18 0.151 0.171526 0.2207 0.1597 0.1873 0.1188 0.1933 0.23 0.13 0.2 0.12 0.1921 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.07973 NA NA 0.176361 0.144025 NA 0.072 NA 3.7441723 1286 11 20676417 20676417 C T UTR3 SLC6A5 NM_004211:c.*3C>T NA NA UTR3 ENSG00000165970 ENST00000525748:c.*3C>T,ENST00000298923:c.*1694C>T NA NA NA NA 11p15.1 NA NA NA NA rs1401793 0.15 0.15 0.139 0.140775 0.1938 0.002 0.1772 0.2489 0.0573 0.2 0.0017 0.19 0.22 0.1833 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.759968 NA NA 0.212093 0.264185 NA 0.109 NA 3.7441404 1286 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 1286 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 1286 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 1286 7 80378319 80378319 G C exonic SEMA3C NA synonymous SNV SEMA3C:NM_006379:exon17:c.C1737G:p.V579V exonic ENSG00000075223 NA synonymous SNV ENSG00000075223:ENST00000265361:exon17:c.C1737G:p.V579V,ENSG00000075223:ENST00000419255:exon17:c.C1737G:p.V579V,ENSG00000075223:ENST00000544525:exon17:c.C1791G:p.V597V Score=598;Name=lod=360 NA 7q21.11 NA NA NA NA rs2272351 0.86 0.86 0.838 0.852236 0.9901 0.7679 0.9049 0.7209 0.9376 0.99 0.78 0.92 0.69 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 1.072455 NA NA 0.99151 0.767817 NA 0.862 NA 3.7436566 1286 7 139754451 139754451 T C intronic PARP12 NA NA NA intronic ENSG00000059378 NA NA NA NA NA 7q34 NA Name=ZNF263 NA NA rs2362460 0.54 0.54 0.568 0.554912 0.3857 0.5278 0.5331 0.8638 0.3548 0.37 0.52 0.51 0.86 0.4638 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 1.697187 1.697187 NA 0.406977 0.805493 NA 0.486 NA 3.743523 1286 11 115049311 115049311 A G intronic CADM1 NA NA NA intronic ENSG00000182985 NA NA NA NA NA 11q23.3 NA NA NA NA rs11215399 0.19 0.19 0.156 0.198682 0.2565 0.1369 0.3213 0.034 0.3384 0.26 0.16 0.31 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 -0.233225 NA NA NA NA NA 0.13 NA 3.7435 1286 9 123753600 123753600 G T intronic C5 NA NA NA intronic ENSG00000106804 NA NA NA NA NA 9q33.2 NA NA NA NA rs41311867 0.05 0.05 0.051 0.0648962 0.0855 0.0357 0.0403 0.0545 0.1053 0.08 0.02 0.04 0.06 0.0808 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 0.137407 NA NA 0.090233 0.080572 NA 0.08 NA 3.743467 1286 19 7810006 7810006 G A intronic CD209 NA NA NA intronic ENSG00000090659 NA NA NA NA NA 19p13.2 NA NA NA NA rs11465384 0.04 0.04 0.041 0.0319489 0.1034 NA 0.0403 0.0038 0.0235 0.1 NA 0.04 0.01 0.0635 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 -0.111167 NA NA 0.089651 0.01498 NA 0.087 NA 3.743449 1286 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 1286 11 125281795 125281795 G A intronic PKNOX2 NA NA NA intronic ENSG00000165495 NA NA NA NA NA 11q24.2 NA NA NA NA rs7130081 0.06 0.06 0.047 0.0479233 0.0905 0.003 0.0562 0.0514 0.0399 0.08 0.0017 0.07 0.08 0.0714 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 0.637706 NA NA 0.094969 0.053499 NA 0.065 NA 3.743131 1286 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 1286 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 1286 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 1286 3 186442833 186442833 G C intronic KNG1 NA NA NA ncRNA_intronic ENSG00000197099 NA NA NA NA NA 3q27.3 NA NA Name=3 NA rs1656921 0.5 0.5 0.478 0.523562 0.5368 0.3562 0.6095 0.6142 0.499 0.53 0.33 0.61 0.58 0.5351 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.861458 NA NA 0.519302 0.596005 ID=COSN167115;OCCURENCE=1(large_intestine) 0.623 NA 3.7421313 1286 1 62232031 62232031 C T exonic INADL NA synonymous SNV INADL:NM_176877:exon4:c.C270T:p.I90I exonic ENSG00000132849 NA synonymous SNV ENSG00000132849:ENST00000316485:exon4:c.C270T:p.I90I,ENSG00000132849:ENST00000371158:exon4:c.C270T:p.I90I NA NA 1p31.3 Score=973;Name=V$EN1_01 NA NA NA rs1286835 0.93 0.93 0.921 0.910144 0.9791 1 0.9654 0.6989 0.9928 0.98 1 0.98 0.73 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 -1.206975 NA NA 0.981977 0.750567 NA 0.87 NA 3.7419896 1286 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 1286 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 1286 1 166974420 166974420 T C intronic MAEL NA NA NA intronic ENSG00000143194 NA NA NA NA NA 1q24.1 NA NA NA NA rs1041238 0.17 0.17 0.18 0.175519 0.1203 0.246 0.1066 0.2186 0.1503 0.11 0.27 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 -0.299034 NA NA 0.138592 0.217486 NA 0.159 NA 3.741108 1286 11 4824628 4824628 G A downstream OR52R1 NA NA NA intronic ENSG00000167346 NA NA NA NA NA 11p15.4 NA NA NA NA rs61880854 0.01 0.01 0.007 0.00938498 0.0348 NA 0.0058 0.0008 0.0072 0.03 NA 0.01 NA 0.0251 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 0.040624 NA NA 0.032341 0.006588 NA NA NA 3.7410923 1286 11 95519243 95519243 T C intronic FAM76B NA NA NA intronic ENSG00000077458 NA NA NA NA NA 11q21 NA NA NA NA rs1255150 0.22 0.22 0.231 0.282748 0.0636 0.0446 0.2118 0.7141 0.2209 0.06 0.04 0.2 0.7 0.1396 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 4.956964 4.956964 NA 0.056096 0.582438 NA 0.275 NA 3.740704 1286 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 1286 10 71880791 71880791 C G intronic AIFM2 NA NA NA intronic ENSG00000042286 NA NA NA NA NA 10q22.1 NA NA NA NA rs73273531 0.28 0.28 0.277 0.322684 0.2594 0.1905 0.1657 0.4697 0.4366 0.27 0.18 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 -0.561122 NA NA NA NA NA 0.174 NA 3.7406 1286 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 1286 17 62157004 62157004 G A intronic ERN1 NA NA NA intronic ENSG00000178607 NA NA NA NA NA 17q23.3 NA NA NA NA rs78213244 0.07 0.07 0.062 0.0634984 0.0994 0.003 0.0677 0.0998 0.0368 0.1 0.0017 0.07 0.09 0.0772 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 1.024713 NA NA 0.083333 0.094391 NA 0.072 NA 3.740067 1286 7 44612454 44612454 C A intronic DDX56 NA NA NA intronic ENSG00000136271 NA NA NA NA NA 7p13 NA Name=TR4 NA NA rs217373 0.32 0.32 0.329 0.302516 0.4334 0.0228 0.317 0.4281 0.2761 0.43 0.02 0.38 0.46 0.3676 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.200868 NA NA 0.45907 0.42374 NA 0.297 NA 3.73993 1286 11 17172133 17172133 T C exonic PIK3C2A NA synonymous SNV PIK3C2A:NM_002645:exon3:c.A1239G:p.A413A exonic ENSG00000011405 NA synonymous SNV ENSG00000011405:ENST00000265970:exon3:c.A1239G:p.A413A,ENSG00000011405:ENST00000540361:exon3:c.A99G:p.A33A,ENSG00000011405:ENST00000533645:exon4:c.A1239G:p.A413A Score=428;Name=lod=73 NA 11p15.1 NA NA NA NA rs2302511 0.85 0.85 0.848 0.848642 0.998 0.5923 0.9438 0.8714 0.8609 1 0.62 0.94 0.84 0.9333 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.122164 NA NA 0.995691 0.888409 NA 0.906 NA 3.7396756 1286 22 20102090 20102090 T C intronic TRMT2A NA NA NA intronic ENSG00000099899 NA NA NA NA NA 22q11.21 NA Name=ZNF263 NA NA rs885980 0.48 0.48 0.431 0.499601 0.3986 0.6915 0.5432 0.3782 0.5389 0.4 0.66 0.48 0.39 0.4664 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 3.751303 3.751303 NA 0.395349 0.395143 NA 0.348 NA 3.739651 1286 19 40328327 40328327 C A intronic FBL NA NA NA intronic ENSG00000105202 NA NA NA NA NA 19q13.2 NA NA NA NA rs649908 0.05 0.05 0.047 0.0355431 0.1034 0.001 0.0562 0.0038 0.0297 0.1 NA 0.06 0.01 0.0687 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 3.76811 3.76811 NA 0.088256 0.014526 NA 0.022 NA 3.739644 1286 19 33117666 33117666 T C exonic ANKRD27 NA synonymous SNV ANKRD27:NM_032139:exon16:c.A1488G:p.G496G exonic ENSG00000105186 NA synonymous SNV ENSG00000105186:ENST00000306065:exon16:c.A1488G:p.G496G NA NA 19q13.11 NA NA NA NA rs6510271 0.66 0.66 0.681 0.651957 0.6451 0.6528 0.536 0.7179 0.6513 0.65 0.69 0.57 0.7 0.6438 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 -0.667773 NA NA 0.638256 0.699955 NA 0.732 NA 3.7395106 1286 16 19838319 19838319 G C intronic IQCK NA NA NA intronic ENSG00000174628 NA NA NA NA NA 16p12.3 NA NA NA NA rs79851136 0.14 0.14 0.116 0.159145 0.0636 0.245 0.2262 0.112 0.1851 0.06 0.25 0.17 0.13 0.1223 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.587761 NA NA 0.074767 0.091716 NA 0.109 NA 3.739333 1286 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 1286 9 100201664 100201664 G A intronic TDRD7 NA NA NA intronic ENSG00000196116 NA NA NA NA NA 9q22.33 NA NA NA NA rs3214070 0.07 0.07 0.063 0.0537141 0.1302 0.0377 0.049 0.0144 0.0481 0.14 0.03 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 0.31804 NA NA 0.13105 0.022399 NA 0.072 NA 3.73875 1286 9 111979191 111979191 C A intronic EPB41L4B NA NA NA intronic ENSG00000095203 NA NA NA NA NA 9q31.3 NA NA NA NA rs13293508 0.06 0.06 0.046 0.063099 0.0795 0.0724 0.1369 0.0076 0.0593 0.07 0.06 0.12 0.01 0.0853 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 0.257887 NA NA 0.096712 0.01806 NA 0.087 NA 3.738488 1286 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 1286 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 1286 2 220500426 220500426 A G exonic SLC4A3 NA synonymous SNV SLC4A3:NM_005070:exon14:c.A2004G:p.A668A,SLC4A3:NM_201574:exon14:c.A2085G:p.A695A exonic ENSG00000114923 NA synonymous SNV ENSG00000114923:ENST00000273063:exon14:c.A2085G:p.A695A,ENSG00000114923:ENST00000317151:exon14:c.A2004G:p.A668A,ENSG00000114923:ENST00000358055:exon14:c.A2004G:p.A668A,ENSG00000114923:ENST00000373760:exon14:c.A2004G:p.A668A,ENSG00000114923:ENST00000373762:exon14:c.A2085G:p.A695A NA NA 2q35 Score=847;Name=V$RFX1_02 NA NA NA rs639214 0.92 0.92 0.9 0.90635 0.9811 0.9921 0.9697 0.6944 0.9826 0.98 1 0.96 0.68 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 0.523575 NA NA 0.984419 0.722424 NA 0.833 NA 3.7375476 1286 17 48165064 48165064 T C intronic ITGA3 NA NA NA intronic ENSG00000005884 NA NA NA NA NA 17q21.33 NA Name=Rad21,YY1_(C-20),SMC3_(ab9263),ZNF263,CTCF,TCF12,Pol2,ELF1_(SC-631),CTCF_(SC-5916),Pol2-4H8,GABP,CTCF_(C-20),Znf143_(16618-1-AP) 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 1286 2 55771050 55771050 C G intronic CCDC104 NA NA NA intronic ENSG00000163001 NA NA NA Score=300;Name=lod=22 NA 2p16.1 Score=855;Name=V$NKX61_01 NA NA NA rs3816489 0.65 0.65 0.616 0.605831 0.7813 0.4315 0.7522 0.5711 0.5481 0.79 0.47 0.76 0.54 0.711 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 -0.479387 NA NA 0.770421 0.591549 NA 0.732 NA 3.737279 1286 1 220373857 220373857 C A intronic RAB3GAP2 NA NA NA intronic ENSG00000118873 NA NA NA NA NA 1q41 NA NA NA NA rs74948809 0.06 0.06 0.045 0.0609026 0.0845 0.0615 0.0461 0.0076 0.1186 0.08 0.07 0.06 0.01 0.0902 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 -0.203825 NA NA 0.088408 0.020434 NA 0.058 NA 3.736892 1286 5 38950776 38950776 G A exonic RICTOR NA synonymous SNV RICTOR:NM_152756:exon31:c.C3174T:p.S1058S exonic ENSG00000164327 NA synonymous SNV ENSG00000164327:ENST00000296782:exon31:c.C3174T:p.S1058S,ENSG00000164327:ENST00000357387:exon31:c.C3174T:p.S1058S Score=594;Name=lod=345 NA 5p13.1 NA NA NA NA rs2115949 0.98 0.98 0.979 0.949481 0.9861 0.9881 0.9741 0.9085 0.91 0.98 0.99 0.96 0.96 0.9658 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 0.003058 NA NA 0.97859 0.900318 NA 0.935 NA 3.7361766 1286 7 7646651 7646651 G T exonic MIOS NA synonymous SNV MIOS:NM_019005:exon13:c.G2556T:p.S852S exonic ENSG00000164654 NA synonymous SNV ENSG00000164654:ENST00000405785:exon12:c.G2556T:p.S852S,ENSG00000164654:ENST00000340080:exon13:c.G2556T:p.S852S Score=532;Name=lod=193 NA 7p21.3 NA NA NA NA rs7806046 0.99 0.99 0.995 0.989417 0.9702 1 0.987 1 0.9857 0.97 1 0.98 1 0.982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.019335 NA NA 0.978726 0.994406 NA 0.964 NA 3.7357406 1286 17 39619219 39619219 G A exonic KRT32 NA synonymous SNV KRT32:NM_002278:exon6:c.C1080T:p.N360N exonic ENSG00000108759 NA synonymous SNV ENSG00000108759:ENST00000225899:exon6:c.C1080T:p.N360N NA NA 17q21.2 NA NA NA NA rs2857257 0.66 0.66 0.669 0.615216 0.673 0.6815 0.5706 0.6309 0.498 0.68 0.71 0.54 0.64 0.6163 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.122173 NA NA 0.641628 0.625511 ID=COSM1383174;OCCURENCE=1(large_intestine) 0.638 NA 3.7357386 1286 6 169637456 169637456 G A intronic THBS2 NA NA NA ncRNA_intronic ENSG00000226445 NA NA NA NA NA 6q27 NA NA Name=2 NA rs9283850 0.69 0.69 0.699 0.672724 0.5199 0.8998 0.6643 0.7534 0.4928 0.53 0.9 0.64 0.76 0.5644 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 0.167407 NA NA 0.513837 0.720708 NA 0.667 NA 3.7351963 1287 1 7880469 7880469 A G intronic PER3 NA NA NA ncRNA_intronic ENSG00000236266 NA NA NA NA NA 1p36.23 NA NA NA NA rs228691 0.55 0.55 0.526 0.552915 0.5984 0.4722 0.7075 0.4425 0.6288 0.6 0.49 0.66 0.46 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 0.09076 NA NA NA NA NA 0.551 NA 3.7349333 1287 1 242020804 242020804 A G intronic EXO1 NA NA NA intronic ENSG00000174371 NA NA NA NA NA 1q43 NA NA NA NA rs4149896 0.09 0.09 0.071 0.0854633 0.0855 0.0893 0.2075 0.0076 0.1002 0.09 0.09 0.19 0.02 0.1026 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 -1.267754 NA NA 0.076977 0.019519 ID=COSN163499;OCCURENCE=1(NS) 0.152 NA 3.734923 1287 8 20008155 20008155 C T intronic SLC18A1 NA NA NA intronic ENSG00000036565 NA NA NA NA NA 8p21.3 NA NA NA NA rs17092107 0.06 0.06 0.042 0.04373 0.0954 0.0526 0.0576 0.0098 0.0174 0.1 0.04 0.06 0.01 0.0692 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 0.450296 NA NA 0.10093 0.026782 NA 0.029 NA 3.73447 1287 2 242139491 242139491 C T intronic ANO7 NA NA NA intronic ENSG00000146205 NA NA NA NA NA 2q37.3 NA Name=CEBPB Name=6 NA rs2013250 0.55 0.55 0.556 0.535743 0.7992 0.1429 0.5749 0.6067 0.546 0.8 0.13 0.62 0.6 0.6656 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 -1.049238 NA NA 0.801117 0.64798 NA 0.536 NA 3.734083 1287 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 1287 13 30091714 30091714 G A exonic SLC7A1 NA synonymous SNV SLC7A1:NM_003045:exon10:c.C1506T:p.L502L exonic ENSG00000139514 NA synonymous SNV ENSG00000139514:ENST00000380752:exon10:c.C1506T:p.L502L Score=459;Name=lod=98 NA 13q12.3 NA NA NA NA rs2482089 0.94 0.94 0.932 0.911342 0.9881 0.9593 0.9467 0.789 0.9233 0.99 0.98 0.96 0.8 0.9598 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 1.087584 NA NA 0.984767 0.819337 NA 0.928 NA 3.7339996 1287 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,Pol2,BCL3,NFKB,RFX5_(N-494),IRF3,TAF1,SP1,Oct-2,TBP,ZBTB7A_(SC-34508),PU.1 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 1287 2 206608039 206608039 T C exonic NRP2 NA synonymous SNV NRP2:NM_003872:exon9:c.T1404C:p.V468V,NRP2:NM_018534:exon9:c.T1404C:p.V468V,NRP2:NM_201264:exon9:c.T1404C:p.V468V,NRP2:NM_201266:exon9:c.T1404C:p.V468V,NRP2:NM_201267:exon9:c.T1404C:p.V468V,NRP2:NM_201279:exon9:c.T1404C:p.V468V exonic ENSG00000118257 NA synonymous SNV ENSG00000118257:ENST00000272849:exon9:c.T1404C:p.V468V,ENSG00000118257:ENST00000355117:exon9:c.T1404C:p.V468V,ENSG00000118257:ENST00000357118:exon9:c.T1404C:p.V468V,ENSG00000118257:ENST00000357785:exon9:c.T1404C:p.V468V,ENSG00000118257:ENST00000360409:exon9:c.T1404C:p.V468V,ENSG00000118257:ENST00000412873:exon9:c.T1404C:p.V468V,ENSG00000118257:ENST00000540178:exon9:c.T1404C:p.V468V,ENSG00000118257:ENST00000540841:exon9:c.T1404C:p.V468V,ENSG00000118257:ENST00000417189:exon10:c.T1404C:p.V468V Score=522;Name=lod=177 NA 2q33.3 NA NA NA NA rs849568 0.97 0.97 0.97 0.964657 0.9751 1 0.9784 0.8986 0.9969 0.97 1 0.99 0.92 0.9805 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.466063 1.466063 NA 0.977326 0.912165 NA 0.986 NA 3.7337406 1287 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 1287 10 127789598 127789598 A G intronic ADAM12 NA NA NA intronic ENSG00000148848 NA NA NA NA NA 10q26.2 NA NA NA NA rs2290845 0.21 0.21 NA 0.206669 0.0716 0.1746 0.1398 0.3956 0.1708 0.09 0.24 0.14 0.39 0.1313 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.677807 NA NA 0.063488 0.338856 NA 0.167 NA 3.733612 1287 11 113078756 113078756 T C intronic NCAM1 NA NA NA intronic ENSG00000149294 NA NA NA NA NA 11q23.2 NA NA NA NA rs12574998 0.08 0.08 0.069 0.0794728 0.0855 0.1954 0.0303 0.0076 0.0859 0.09 0.18 0.03 0.01 0.0995 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.373191 1.373191 NA 0.081584 0.029185 NA 0.029 NA 3.733416 1287 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 1287 1 29581937 29581937 G A intronic PTPRU NA NA NA intronic ENSG00000060656 NA NA NA NA NA 1p35.3 NA NA NA NA rs16838065 0.16 0.16 0.147 0.163738 0.0736 0.3393 0.1398 0.0968 0.183 0.08 0.33 0.15 0.11 0.1266 0.33 NA NA 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 0.06686 0.093963 NA 0.13 NA 3.73294 1287 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 1287 4 77021915 77021915 G A intronic ART3 NA NA NA intronic ENSG00000156219 NA NA NA NA NA 4q21.1 NA NA NA NA rs72655511 0.1 0.1 0.11 0.0998403 0.0984 NA 0.0778 0.2511 0.0153 0.09 NA 0.09 0.23 0.0809 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.196236 NA NA 0.088023 0.216167 NA 0.101 NA 3.732677 1287 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 1287 14 74454813 74454813 C A UTR5 ENTPD5 NM_001249:c.-8G>T NA NA UTR5 ENSG00000187097 ENST00000557325:c.-8G>T,ENST00000334696:c.-8G>T,ENST00000553284:c.-8G>T,ENST00000556242:c.-8G>T NA NA NA NA 14q24.3 NA NA NA NA rs2302117 0.19 0.19 0.186 0.170527 0.2087 0.3671 0.1124 0.034 0.1544 0.22 0.32 0.11 0.04 0.1958 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.509272 1.509272 NA 0.196279 0.064458 ID=COSN164734;OCCURENCE=1(NS),1(kidney),1(large_intestine),1(central_nervous_system) 0.145 NA 3.7325544 1287 11 124947112 124947112 C A intronic SLC37A2 NA NA NA intronic ENSG00000134955 NA NA NA NA NA 11q24.2 NA NA NA NA rs61912693 0.09 0.09 0.085 0.081869 0.0835 0.1627 0.0533 0.0098 0.1145 0.08 0.18 0.07 0.02 0.09 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.419601 3.419601 NA 0.094208 0.024989 NA 0.043 NA 3.732292 1287 1 222761771 222761771 A G intronic TAF1A NA NA NA intronic ENSG00000143498 NA NA NA NA NA 1q41 NA NA NA NA rs2270705 0.08 0.08 0.068 0.0728834 0.1123 0.0635 0.0677 0.0582 0.0654 0.1 0.07 0.07 0.04 0.0707 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 -0.524936 NA NA 0.085349 0.058783 NA 0.08 NA 3.731651 1287 7 99780282 99780282 C G intronic STAG3 NA NA NA intronic ENSG00000066923 NA NA NA NA NA 7q22.1 NA NA NA NA rs4729579 0.39 0.39 0.359 0.394169 0.2684 0.622 0.5173 0.3359 0.2802 0.27 0.59 0.45 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 -0.147643 NA NA NA NA NA 0.442 NA 3.7316 1287 17 18141705 18141705 C T intronic LLGL1 NA NA NA intronic ENSG00000131899 NA NA NA NA NA 17p11.2 NA NA NA NA rs2245430 0.26 0.26 0.254 0.288938 0.2684 0.3641 0.2277 0.1422 0.4744 0.26 0.35 0.25 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 -0.845328 NA NA NA NA NA 0.304 NA 3.7316 1287 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 1287 14 100607595 100607595 C T intronic EVL NA NA NA intronic ENSG00000196405 NA NA NA NA NA 14q32.2 NA NA NA NA rs56051501 0.13 0.13 0.129 0.129992 0.0805 0.38 0.0807 0.0098 0.1207 0.07 0.34 0.07 0.01 0.1068 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.357104 NA NA 0.081395 0.024512 NA 0.13 NA 3.731305 1287 10 26534937 26534937 C T intronic GAD2 NA NA NA intronic ENSG00000136750 NA NA NA NA NA 10p12.1 NA NA NA NA rs2839677 0.06 0.06 0.053 0.0441294 0.1024 0.0446 0.0548 0.0083 0.0245 0.1 0.04 0.06 0.01 0.071 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 -0.613728 NA NA 0.095465 0.021108 NA 0.087 NA 3.731135 1287 5 154271948 154271948 G A exonic GEMIN5 NA synonymous SNV GEMIN5:NM_001252156:exon25:c.C3756T:p.D1252D,GEMIN5:NM_015465:exon25:c.C3759T:p.D1253D exonic ENSG00000082516 NA synonymous SNV ENSG00000082516:ENST00000285873:exon25:c.C3759T:p.D1253D NA NA 5q33.2 NA NA Name=15 NA rs816736 0.95 0.95 0.944 0.951478 0.9781 0.9782 0.9769 0.8729 0.9847 0.97 0.97 0.98 0.88 0.9713 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 -0.991115 NA NA 0.986163 0.886291 NA 0.935 NA 3.7311036 1287 11 104972190 104972190 C T upstream CARD17 NA NA NA upstream ENSG00000137752,ENSG00000204397,ENSG00000255221 NA NA NA NA NA 11q22.3 NA Name=Pol2 Name=10 NA rs1792773 0.6 0.6 0.609 0.563698 0.674 0.3958 0.6124 0.6906 0.4172 0.67 0.43 0.62 0.69 0.6107 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 -0.024056 NA NA 0.650965 0.670981 NA 0.486 NA 3.7310016 1287 2 209214770 209214770 A G exonic PIKFYVE NA synonymous SNV PIKFYVE:NM_015040:exon36:c.A5397G:p.T1799T exonic ENSG00000115020 NA synonymous SNV ENSG00000115020:ENST00000264380:exon36:c.A5397G:p.T1799T Score=572;Name=lod=282 NA 2q34 NA NA NA NA rs2118297 0.94 0.94 0.925 0.911142 0.995 0.9395 0.9769 0.7874 0.9162 1 0.94 0.97 0.81 0.9596 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.131 NA NA 0.981624 0.805039 NA 0.899 NA 3.7304426 1287 19 19449686 19449686 G T exonic MAU2 NA synonymous SNV MAU2:NM_015329:exon5:c.G489T:p.S163S exonic ENSG00000129933 NA synonymous SNV ENSG00000129933:ENST00000262815:exon5:c.G489T:p.S163S,ENSG00000129933:ENST00000392313:exon5:c.G489T:p.S163S NA NA 19p13.11 NA NA NA NA rs2074090 0.58 0.58 0.578 0.524161 0.674 0.6677 0.5418 0.348 0.4479 0.68 0.66 0.56 0.33 0.6041 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.214967 NA NA 0.658211 0.395582 NA 0.5 NA 3.7303556 1287 3 45559519 45559519 T C exonic LARS2 NA synonymous SNV LARS2:NM_015340:exon18:c.T2169C:p.A723A exonic ENSG00000011376 NA synonymous SNV ENSG00000011376:ENST00000414984:exon16:c.T2040C:p.A680A,ENSG00000011376:ENST00000415258:exon17:c.T2169C:p.A723A,ENSG00000011376:ENST00000265537:exon18:c.T2169C:p.A723A Score=499;Name=lod=142 NA 3p21.31 NA NA NA NA rs2170549 0.89 0.89 0.858 0.849441 0.992 1 0.9452 0.4894 0.9663 1 1 0.95 0.54 0.9515 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.79807 NA NA 0.992907 0.575352 NA 0.804 NA 3.7302596 1287 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 1287 10 85993836 85993836 A G exonic LRIT1 NA synonymous SNV LRIT1:NM_015613:exon3:c.T888C:p.N296N exonic ENSG00000148602 NA synonymous SNV ENSG00000148602:ENST00000372105:exon3:c.T888C:p.N296N Score=439;Name=lod=81 NA 10q23.1 NA NA NA NA rs4933986 0.99 0.99 0.995 0.994609 0.9781 1 0.9986 0.9992 0.9969 0.98 1 1 1 0.9796 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.090525 NA NA 0.979302 0.994326 NA 0.993 NA 3.7296646 1287 19 46294136 46294136 G A intronic DMWD NA NA NA exonic ENSG00000185800 NA unknown UNKNOWN NA NA 19q13.32 NA NA NA NA rs72626215 0.2 0.2 0.169 0.190895 0.2614 0.2857 0.1484 0.0605 0.227 0.28 0.24 0.19 0.05 0.2398 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026717 NA NA 0.269186 0.092828 ID=COSN165853;OCCURENCE=1(NS) 0.188 NA 3.729614 1287 18 6870524 6870524 T C intronic ARHGAP28 NA NA NA intronic ENSG00000088756 NA NA NA NA NA 18p11.31 NA NA NA NA rs62082833 0.24 0.24 0.219 0.236621 0.2704 0.2113 0.2507 0.2141 0.2485 0.25 0.24 0.23 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 -0.560762 NA NA NA NA NA 0.232 NA 3.7296 1287 2 219920412 219920412 A G exonic IHH NA synonymous SNV IHH:NM_002181:exon3:c.T753C:p.P251P exonic ENSG00000163501 NA synonymous SNV ENSG00000163501:ENST00000295731:exon3:c.T753C:p.P251P NA NA 2q35 NA NA NA NA rs3731881 0.51 0.51 0.499 0.484824 0.672 0.2788 0.5331 0.4395 0.5317 0.69 0.29 0.54 0.45 0.599 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 0.417303 NA NA 0.666512 0.4537 NA 0.58 NA 3.7291546 1287 9 136330428 136330428 G A intronic CACFD1 NA NA NA intronic ENSG00000160325 NA NA NA NA NA 9q34.2 NA NA NA NA rs41302667 0.05 0.05 0.048 0.0363419 0.0964 NA 0.0605 0.003 0.0399 0.1 NA 0.06 0.0041 0.0792 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 -0.479219 NA NA 0.095349 0.014753 NA 0.036 NA 3.729051 1287 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 1287 15 48063076 48063076 T C exonic SEMA6D NA synonymous SNV SEMA6D:NM_020858:exon17:c.T2130C:p.P710P,SEMA6D:NM_153616:exon17:c.T2091C:p.P697P,SEMA6D:NM_153617:exon18:c.T2148C:p.P716P,SEMA6D:NM_153618:exon19:c.T2316C:p.P772P,SEMA6D:NM_001198999:exon20:c.T2130C:p.P710P exonic ENSG00000137872 NA synonymous SNV ENSG00000137872:ENST00000358066:exon17:c.T2130C:p.P710P,ENSG00000137872:ENST00000389428:exon17:c.T2091C:p.P697P,ENSG00000137872:ENST00000354744:exon18:c.T2148C:p.P716P,ENSG00000137872:ENST00000389432:exon18:c.T2187C:p.P729P,ENSG00000137872:ENST00000389433:exon18:c.T2259C:p.P753P,ENSG00000137872:ENST00000316364:exon19:c.T2316C:p.P772P,ENSG00000137872:ENST00000536845:exon19:c.T2316C:p.P772P,ENSG00000137872:ENST00000537942:exon19:c.T2130C:p.P710P,ENSG00000137872:ENST00000558014:exon20:c.T2130C:p.P710P NA NA 15q21.1 NA NA NA NA rs568215 0.77 0.77 0.776 0.795727 0.6352 0.8442 0.6527 0.9811 0.7618 0.65 0.85 0.67 0.97 0.6948 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 -0.626062 NA NA 0.60775 0.918753 NA 0.812 NA 3.7289166 1287 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 1287 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 1287 11 1025987 1025987 A G intronic MUC6 NA NA NA intronic ENSG00000184956 NA NA NA NA NA 11p15.5 NA NA NA NA rs12805673 0.12 0.12 0.141 0.125799 0.0885 0.001 0.0865 0.3487 0.0194 0.09 0.0017 0.09 0.34 0.1092 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076057 NA NA 0.073853 0.281204 NA 0.181 NA 3.728447 1287 5 141325249 141325249 T C exonic PCDH12 NA synonymous SNV PCDH12:NM_016580:exon4:c.A3252G:p.P1084P exonic ENSG00000113555 NA synonymous SNV ENSG00000113555:ENST00000231484:exon4:c.A3252G:p.P1084P NA NA 5q31.3 NA NA Name=15 NA rs105633 0.99 0.99 0.991 0.991813 0.9732 1 0.9885 0.9992 0.9949 0.97 1 0.99 1 0.984 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.760679 NA NA 0.981047 0.996142 NA 1 NA 3.7284196 1287 1 38188697 38188697 T C intronic EPHA10 NA NA NA intronic ENSG00000183317 NA NA NA NA NA 1p34.3 NA NA NA NA rs16824420 0.07 0.07 0.06 0.0565096 0.1083 0.0278 0.049 0.0598 0.0337 0.1 0.03 0.06 0.07 0.0697 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 -0.836482 NA NA 0.09369 0.060872 NA 0.123 NA 3.72831 1287 20 24938121 24938121 A G intronic CST7 NA NA NA intronic ENSG00000077984 NA NA NA NA NA 20p11.21 NA NA NA NA rs6050206 0.07 0.07 0.065 0.0766773 0.0924 0.004 0.0677 0.1135 0.092 0.1 0.0035 0.06 0.11 0.0813 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 -0.238322 NA NA 0.098023 0.116432 NA 0.072 NA 3.728277 1287 10 135082346 135082346 A G exonic ADAM8 NA nonsynonymous SNV ADAM8:NM_001164490:exon17:c.T1774C:p.F592L,ADAM8:NM_001109:exon19:c.T1969C:p.F657L exonic ENSG00000151651 NA nonsynonymous SNV ENSG00000151651:ENST00000485491:exon17:c.T1774C:p.F592L,ENSG00000151651:ENST00000445355:exon19:c.T1969C:p.F657L NA NA 10q26.3 NA NA NA NA rs2275720 0.84 0.84 0.805 0.824281 0.8787 0.9286 0.8026 0.6921 0.8548 0.88 0.94 0.81 0.68 0.8605 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 -0.367017 NA 0.7 0.866132 0.673785 NA 0.732 NA 3.7280014 1287 16 4786456 4786456 A G intronic C16orf71 NA NA NA ncRNA_intronic ENSG00000266994 NA NA NA NA NA 16p13.3 NA NA NA NA rs859314 0.6 0.6 0.62 0.553914 0.6054 0.6796 0.5562 0.4682 0.4857 0.61 0.71 0.55 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 0.778086 NA NA NA NA NA 0.558 NA 3.7279333 1287 16 18804737 18804737 C T intronic ARL6IP1 NA NA NA intronic ENSG00000170540,ENSG00000260342 NA NA NA NA NA 16p12.3 NA Name=c-Fos NA NA rs2650628 0.3 0.3 0.275 0.311302 0.4324 0.122 0.3646 0.3222 0.3292 0.43 0.11 0.37 0.27 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 0.417449 NA NA 0.450105 0.326651 NA 0.384 NA 3.727895 1287 2 158626980 158626980 C T exonic ACVR1 NA synonymous SNV ACVR1:NM_001105:exon7:c.G690A:p.E230E,ACVR1:NM_001111067:exon7:c.G690A:p.E230E exonic ENSG00000115170 NA synonymous SNV ENSG00000115170:ENST00000409283:exon6:c.G690A:p.E230E,ENSG00000115170:ENST00000263640:exon7:c.G690A:p.E230E,ENSG00000115170:ENST00000434821:exon7:c.G690A:p.E230E,ENSG00000115170:ENST00000410057:exon8:c.G690A:p.E230E Score=488;Name=lod=128 NA 2q24.1 NA NA NA NA rs1146031 0.92 0.92 0.913 0.913938 0.9861 0.9712 0.9582 0.7421 0.9816 0.99 0.98 0.95 0.73 0.9642 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 1.059137 NA NA 0.988721 0.760781 NA 0.928 NA 3.7276456 1287 3 129251263 129251263 C T intronic RHO NA NA NA intronic ENSG00000163914 NA NA NA NA NA 3q22.1 NA NA NA NA rs56340615 0.08 0.08 0.077 0.0856629 0.1014 0.0694 0.0764 0.0666 0.1186 0.09 0.07 0.09 0.07 0.0824 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 -1.232724 NA NA 0.088605 0.068997 NA 0.246 NA 3.727595 1287 3 129247551 129247551 A G UTR5 RHO NM_000539:c.-26A>G NA NA UTR5 ENSG00000163914 ENST00000296271:c.-26A>G NA NA NA NA 3q22.1 NA NA NA NA rs7984 0.47 0.47 0.469 0.528355 0.159 0.6319 0.2997 0.9433 0.4029 0.14 0.63 0.31 0.92 0.2869 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 -0.097193 NA NA 0.159884 0.807535 NA 0.638 NA 3.7275494 1287 1 113657092 113657092 A C exonic LRIG2 NA synonymous SNV LRIG2:NM_014813:exon15:c.A2124C:p.T708T exonic ENSG00000198799 NA synonymous SNV ENSG00000198799:ENST00000361127:exon15:c.A2124C:p.T708T Score=508;Name=lod=155 NA 1p13.2 NA NA NA NA rs1216793 0.91 0.91 0.902 0.901757 0.9891 0.9504 0.9669 0.7027 0.9847 0.99 0.98 0.97 0.67 0.9633 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 0.800158 NA NA 0.986744 0.7399 NA 0.913 NA 3.7275226 1287 19 47823038 47823038 G A splicing C5AR1 NM_001736:exon2:c.4-1G>A NA NA exonic ENSG00000197405 NA nonsynonymous SNV ENSG00000197405:ENST00000355085:exon2:c.G4A:p.D2N NA NA 19q13.32 NA NA NA NA rs4467185 0.97 0.97 0.978 0.969449 0.9742 1 0.9741 0.9357 0.9755 0.98 1 0.97 0.94 0.9817 1 . . 0.005 B 0.003 B 0.000 U 1.000 P 0 N 1.22 T -0.970 T 0.000 T 0.107 1.984 12.59 1.67 0.395 0.166 5.982 1.984001 1.984001 0.7 0.983256 0.93645 NA 1 NA 3.7275107 1287 19 1037932 1037932 G C UTR3 CNN2 NM_004368:c.*33G>C,NM_201277:c.*33G>C NA NA UTR3 ENSG00000064666 ENST00000263097:c.*33G>C,ENST00000348419:c.*33G>C,ENST00000565096:c.*33G>C,ENST00000562958:c.*33G>C,ENST00000568865:c.*299G>C NA NA NA NA 19p13.3 NA Name=CTCF,EBF1_(C-8) Name=74 NA rs3848639 0.85 0.85 0.817 0.833666 0.8628 0.8512 0.8948 0.7595 0.8425 0.87 0.87 0.9 0.76 0.852 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 0.027321 NA NA 0.89131 0.803938 NA 0.92 NA 3.7272234 1287 13 47261970 47261970 T C intronic LRCH1 NA NA NA intronic ENSG00000136141 NA NA NA NA NA 13q14.13 NA Name=c-Myc,TCF4,Max,eGFP-JunD,Pol2-4H8,c-Jun,GATA-1,GATA2_(CG2-96),USF-1 Name=102 NA rs842375 0.81 0.81 0.792 0.808107 0.7684 0.8462 0.7824 0.8162 0.817 0.76 0.84 0.77 0.86 0.7608 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 1.550742 1.550742 NA 0.743605 0.797322 NA 0.761 NA 3.727195 1287 19 48800218 48800218 T C UTR3 CCDC114 NM_144577:c.*15A>G NA NA UTR3 ENSG00000105479 ENST00000315396:c.*15A>G NA NA NA NA 19q13.33 NA NA NA NA rs10415825 0.2 0.2 0.199 0.203075 0.2028 0.124 0.1167 0.3056 0.2076 0.21 0.14 0.14 0.31 0.216 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017147 NA NA 0.187485 0.279773 NA 0.246 NA 3.7270484 1287 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 1287 X 100383840 100383840 A C intronic CENPI NA NA NA intronic ENSG00000102384 NA NA NA NA NA Xq22.1 NA NA NA NA rs7884828 0.14 0.14 0.1558 NA NA NA NA NA NA 0.15 0.1 0.13 0.19 0.1326 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 0.42958 NA NA 0.140606 0.155932 NA 0.13 NA 3.726794 1287 19 4357555 4357555 A G exonic MPND NA synonymous SNV MPND:NM_001159846:exon8:c.A1059G:p.S353S,MPND:NM_032868:exon10:c.A1209G:p.S403S exonic ENSG00000008382 NA synonymous SNV ENSG00000008382:ENST00000359935:exon8:c.A1059G:p.S353S,ENSG00000008382:ENST00000596722:exon9:c.A1305G:p.S435S,ENSG00000008382:ENST00000262966:exon10:c.A1209G:p.S403S,ENSG00000008382:ENST00000594716:exon10:c.A1209G:p.S403S,ENSG00000008382:ENST00000599840:exon10:c.A1209G:p.S403S Score=415;Name=lod=65 NA 19p13.3 NA NA NA NA rs4807583 0.99 0.99 0.989 0.989816 0.9781 1 0.9856 0.9977 0.9836 0.98 1 0.98 1 0.9827 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.571743 NA NA 0.979095 0.994868 NA 0.993 NA 3.7267716 1287 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 1287 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 1287 20 60885142 60885142 C A intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA Name=Pol2 NA NA rs2379129 0.38 0.38 0.362 0.354633 0.4274 0.503 0.4409 0.0492 0.4785 0.42 0.52 0.47 0.08 0.4128 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714967 NA NA 0.433481 0.110526 NA 0.275 NA 3.726319 1287 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 1287 5 142416741 142416741 T C intronic ARHGAP26 NA NA NA intronic ENSG00000145819 NA NA NA NA NA 5q31.3 NA Name=NRSF,NANOG_(SC-33759) 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 1287 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 1287 17 80012769 80012769 G A intronic GPS1 NA NA NA intronic ENSG00000169727 NA NA NA NA NA 17q25.3 NA NA NA NA rs11655185 0.1 0.1 0.105 0.10004 0.0994 0.0823 0.0879 0.1445 0.0675 0.1 0.09 0.1 0.14 0.0925 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439469 NA NA 0.082558 0.128065 NA 0.101 NA 3.725542 1288 13 30091819 30091819 G C exonic SLC7A1 NA synonymous SNV SLC7A1:NM_003045:exon10:c.C1401G:p.G467G exonic ENSG00000139514 NA synonymous SNV ENSG00000139514:ENST00000380752:exon10:c.C1401G:p.G467G Score=361;Name=lod=39 NA 13q12.3 NA NA NA NA rs2482090 0.97 0.97 0.959 0.939896 0.9891 0.9593 0.9496 0.8941 0.9243 0.99 0.98 0.96 0.92 0.9677 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 -0.902364 NA NA 0.984884 0.897867 NA 0.971 NA 3.7249826 1288 9 126132329 126132329 T C intronic CRB2 NA NA NA intronic ENSG00000148204 NA NA NA NA NA 9q33.3 NA NA NA NA rs7034379 0.22 0.22 0.202 0.214457 0.2753 0.256 0.1844 0.09 0.2986 0.27 0.27 0.2 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 1.138385 NA NA NA NA NA 0.283 NA 3.7247 1288 17 62130129 62130129 C T intronic ERN1 NA NA NA intronic ENSG00000178607 NA NA NA NA NA 17q23.3 NA NA NA NA rs74407634 0.09 0.09 0.096 0.0932508 0.1044 0.003 0.072 0.2057 0.0378 0.11 0.0017 0.07 0.19 0.0856 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 3.35905 3.35905 NA 0.085558 0.154108 NA 0.101 NA 3.724442 1288 20 60572663 60572663 C A exonic TAF4 NA synonymous SNV TAF4:NM_003185:exon14:c.G3033T:p.A1011A exonic ENSG00000130699 NA synonymous SNV ENSG00000130699:ENST00000252996:exon14:c.G3033T:p.A1011A,ENSG00000130699:ENST00000436129:exon16:c.G2625T:p.A875A NA NA 20q13.33 NA NA NA NA rs2296081 0.62 0.62 0.601 0.587061 0.672 0.6528 0.5879 0.4849 0.5695 0.66 0.65 0.6 0.53 0.6131 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 0.308612 NA NA 0.657442 0.511802 ID=COSM1412879;OCCURENCE=1(large_intestine) 0.565 NA 3.7241246 1288 8 27361311 27361311 C T intronic EPHX2 NA NA NA intronic ENSG00000120915 NA NA NA NA NA 8p21.2 NA NA NA NA rs17057262 0.08 0.08 0.09 0.0876597 0.0865 0.001 0.0836 0.171 0.0685 0.09 0.0017 0.08 0.17 0.0856 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.506853 NA NA 0.103953 0.160009 NA 0.123 NA 3.723947 1288 12 113754487 113754487 G A intronic SLC24A6 NA NA NA intronic ENSG00000089060 NA NA NA NA NA 12q24.13 NA NA NA NA rs78925531 0.04 0.04 0.052 0.0341454 0.0815 0.002 0.0432 0.003 0.0542 0.1 0.0035 0.06 0.0041 0.082 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 -0.182535 NA NA 0.113023 0.022696 NA 0.036 NA 3.723477 1288 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 1288 18 9549149 9549149 C G intronic PPP4R1 NA NA NA intronic ENSG00000154845 NA NA NA NA NA 18p11.22 NA NA NA NA rs58982927 0.09 0.09 0.091 0.0824681 0.0885 0.0397 0.0793 0.1127 0.0818 0.09 0.05 0.1 0.14 0.0903 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.415088 NA NA 0.098145 0.114541 NA 0.072 NA 3.723055 1288 19 21688602 21688602 C G intronic ZNF429 NA NA NA intronic ENSG00000197013 NA NA NA NA NA 19p12 NA Name=Pol2(b),NFKB,ETS1,CHD2_(N-1250),Pol2,CTCF Name=140 NA rs10420016 0.8 0.8 0.804 0.815695 0.7515 0.7262 0.7378 0.9818 0.8047 0.75 0.74 0.77 0.98 0.7691 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 -0.056587 NA NA 0.756744 0.940963 NA 0.804 NA 3.722656 1288 19 56424689 56424689 G T intronic NLRP13 NA NA NA intronic ENSG00000173572 NA NA NA NA NA 19q13.43 NA NA NA NA rs1865956 0.09 0.09 0.08 0.0878594 0.0984 0.0288 0.2579 0.0847 0.0215 0.1 0.03 0.2 0.08 0.0948 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.712921 NA NA 0.084516 0.098796 NA 0.072 NA 3.722284 1288 2 98164184 98164184 C G exonic ANKRD36B NA nonsynonymous SNV ANKRD36B:NM_025190:exon21:c.G1488C:p.E496D ncRNA_exonic ENSG00000196912 NA NA NA NA NA 2q11.2 NA NA NA NA rs13001728 0.38 0.38 0.325 0.287141 0.6402 0.1796 0.4164 0.1036 0.1912 0.63 0.22 0.46 0.11 0.51 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.400512 NA 0.02 0.627801 0.185519 NA 0.312 NA 3.721999 1288 6 17629616 17629616 G A exonic NUP153 NA synonymous SNV NUP153:NM_005124:exon18:c.C2814T:p.S938S exonic ENSG00000124789 NA synonymous SNV ENSG00000124789:ENST00000262077:exon18:c.C2814T:p.S938S,ENSG00000124789:ENST00000537253:exon19:c.C2907T:p.S969S Score=519;Name=lod=171 NA 6p22.3 NA NA NA NA rs942467 0.89 0.89 0.876 0.891973 0.993 0.7143 0.987 0.8623 0.9438 0.99 0.7 0.98 0.87 0.9561 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.623614 NA NA 0.995581 0.867166 NA 0.92 NA 3.7219856 1288 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 1288 20 4163302 4163302 A G exonic SMOX NA synonymous SNV SMOX:NM_001270691:exon5:c.A1176G:p.A392A,SMOX:NM_175839:exon5:c.A1176G:p.A392A,SMOX:NM_175840:exon6:c.A1017G:p.A339A,SMOX:NM_175842:exon6:c.A1017G:p.A339A exonic ENSG00000088826 NA synonymous SNV ENSG00000088826:ENST00000457205:exon3:c.A747G:p.A249A,ENSG00000088826:ENST00000305958:exon5:c.A1176G:p.A392A,ENSG00000088826:ENST00000379460:exon5:c.A1176G:p.A392A,ENSG00000088826:ENST00000278795:exon6:c.A1017G:p.A339A,ENSG00000088826:ENST00000339123:exon6:c.A1017G:p.A339A NA NA 20p13 NA NA NA NA rs1051904 0.54 0.54 0.534 0.509385 0.67 0.4345 0.6023 0.4448 0.4427 0.68 0.38 0.64 0.47 0.6058 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.584777 NA NA 0.668953 0.49251 NA 0.42 NA 3.7219136 1288 19 45028169 45028169 C T exonic CEACAM20 NA nonsynonymous SNV CEACAM20:NM_001102597:exon3:c.G322A:p.V108I,CEACAM20:NM_001102598:exon3:c.G322A:p.V108I,CEACAM20:NM_001102599:exon3:c.G322A:p.V108I,CEACAM20:NM_001102600:exon3:c.G322A:p.V108I ncRNA_exonic ENSG00000176395 NA NA NA NA NA 19q13.31 NA NA NA NA rs7260180 0.39 0.39 0.358 0.369609 0.6342 0.2579 0.4265 0.1377 0.4857 0.63 0.25 0.44 0.13 0.534 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.363786 NA 0.14 0.610009 0.2245 NA 0.428 NA 3.721791 1288 14 95581961 95581961 G A intronic DICER1 NA NA NA intronic ENSG00000100697 NA NA NA NA NA 14q32.13 NA NA NA NA rs11624081 0.05 0.05 0.036 0.028754 0.1054 NA 0.0403 0.0015 0.0082 0.11 NA 0.03 0.0041 0.0695 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 0.162625 NA NA 0.103488 0.026328 NA 0.072 NA 3.721612 1288 11 122650172 122650172 C G intronic UBASH3B NA NA NA intronic ENSG00000154127 NA NA NA NA NA 11q24.1 NA Name=p300 Name=38 NA rs4935813 0.73 0.73 0.721 0.733227 0.7714 0.7609 0.7637 0.6687 0.7311 0.78 0.73 0.75 0.66 0.7602 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 0.850065 NA NA 0.746802 0.685286 NA 0.558 NA 3.721598 1288 11 20124914 20124914 A C exonic NAV2 NA synonymous SNV NAV2:NM_001111019:exon23:c.A3723C:p.G1241G,NAV2:NM_001111018:exon33:c.A6339C:p.G2113G,NAV2:NM_145117:exon33:c.A6531C:p.G2177G,NAV2:NM_182964:exon33:c.A6540C:p.G2180G,NAV2:NM_001244963:exon35:c.A6708C:p.G2236G exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000311043:exon22:c.A3723C:p.G1241G,ENSG00000166833:ENST00000533917:exon23:c.A3723C:p.G1241G,ENSG00000166833:ENST00000349880:exon33:c.A6531C:p.G2177G,ENSG00000166833:ENST00000360655:exon33:c.A6339C:p.G2113G,ENSG00000166833:ENST00000396085:exon34:c.A6540C:p.G2180G,ENSG00000166833:ENST00000396087:exon36:c.A6708C:p.G2236G,ENSG00000166833:ENST00000527559:exon37:c.A6495C:p.G2165G,ENSG00000166833:ENST00000540292:exon37:c.A6501C:p.G2167G Score=599;Name=lod=363 NA 11p15.1 NA NA NA NA rs2243411 0.93 0.93 0.907 0.917332 0.9881 0.9573 0.9669 0.7814 0.9519 0.99 0.95 0.96 0.78 0.9679 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 1.461092 1.461092 NA 0.989186 0.824103 NA 0.928 NA 3.7214806 1288 17 29206433 29206433 G A intronic ATAD5 NA NA NA intronic ENSG00000176208 NA NA NA NA NA 17q11.2 NA NA NA NA rs9903862 0.12 0.12 0.1 0.133187 0.0785 0.1329 0.1542 0.0741 0.2546 0.08 0.16 0.16 0.09 0.1162 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.062628 NA NA 0.083953 0.070132 NA 0.138 NA 3.721347 1288 19 41354712 41354712 A G intronic CYP2A6 NA NA NA intronic ENSG00000255974,ENSG00000268797 NA NA NA NA NA 19q13.2 NA Name=CTCF,Rad21 Name=24 NA rs8192725 0.8 0.8 0.762 0.769968 0.7753 0.7867 0.8184 0.8011 0.6708 0.78 0.8 0.8 0.83 0.7469 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 0.071525 NA NA 0.756596 0.807139 NA 0.507 NA 3.721204 1288 9 27197282 27197282 T G intronic TEK NA NA NA intronic ENSG00000120156 NA NA NA NA NA 9p21.2 NA NA NA NA rs10812532 0.08 0.08 0.073 0.0950479 0.0924 0.0367 0.0677 0.1157 0.1493 0.09 0.04 0.08 0.11 0.0909 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 0.45638 NA NA 0.095576 0.102827 NA 0.087 NA 3.721124 1288 9 138391517 138391517 A C intronic C9orf116 NA NA NA intronic ENSG00000160345 NA NA NA NA NA 9q34.3 NA Name=ZNF263,ZBTB7A_(SC-34508),TAF1,ZEB1_(SC-25388),CTCF,p300,HA-E2F1 NA NA rs2274651 0.53 0.53 0.475 0.515375 0.4314 0.8333 0.5043 0.3684 0.4806 0.44 0.84 0.47 0.38 0.4424 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 0.301423 NA NA 0.405118 0.398034 NA 0.442 NA 3.721082 1288 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 1288 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 1288 X 52825546 52825546 C G exonic SPANXN5 NA synonymous SNV SPANXN5:NM_001009616:exon2:c.G201C:p.L67L exonic ENSG00000204363 NA synonymous SNV ENSG00000204363:ENST00000375511:exon2:c.G201C:p.L67L NA NA Xp11.22 NA NA NA NA rs2806838 0.98 0.98 0.97933 NA NA NA NA NA NA 0.97 1 0.96 0.97 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 -0.538064 NA NA 0.970422 0.978357 NA 0.725 NA 3.7204446 1288 15 85383839 85383839 G A exonic ALPK3 NA synonymous SNV ALPK3:NM_020778:exon5:c.G1935A:p.G645G exonic ENSG00000136383 NA synonymous SNV ENSG00000136383:ENST00000258888:exon5:c.G1935A:p.G645G NA NA 15q25.3 NA NA NA NA rs3803406 0.74 0.74 0.766 0.74361 0.6272 0.9355 0.6571 0.761 0.7035 0.63 0.93 0.67 0.75 0.6789 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 -0.125326 NA NA 0.640181 0.743299 NA 0.804 NA 3.7203856 1288 2 97166204 97166204 A G ncRNA_exonic NEURL3 NA NA NA ncRNA_exonic ENSG00000163121 NA NA NA Score=568;Name=lod=272 NA 2q11.2 NA NA NA NA rs3731938 0.69 0.69 0.658 0.729034 0.6123 0.8333 0.7651 0.5983 0.8926 0.63 0.84 0.72 0.58 0.7025 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 2.952785 2.952785 NA 0.631693 0.612245 NA 0.529 NA 3.7201736 1288 17 73502645 73502645 G A intronic CASKIN2 NA NA NA intronic ENSG00000177303 NA NA NA NA NA 17q25.1 NA NA NA NA rs72851936 0.07 0.07 0.064 0.0690895 0.0944 NA 0.062 0.093 0.0869 0.09 NA 0.09 0.11 0.0856 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 -1.386375 NA NA 0.099884 0.101453 NA 0.116 NA 3.720116 1288 4 53729429 53729429 G A intronic RASL11B NA NA NA intronic ENSG00000128045 NA NA NA NA NA 4q12 NA NA NA NA rs62336792 0.17 0.17 0.145 0.15615 0.0825 0.2599 0.0706 0.2186 0.1012 0.09 0.25 0.09 0.24 0.1092 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.540101 3.540101 NA 0.088721 0.177485 ID=COSM149671;OCCURENCE=1(stomach) 0.13 NA 3.719579 1288 11 85435730 85435730 C T exonic SYTL2 NA synonymous SNV SYTL2:NM_206927:exon1:c.G1770A:p.P590P,SYTL2:NM_206928:exon1:c.G1770A:p.P590P exonic ENSG00000137501 NA synonymous SNV ENSG00000137501:ENST00000354566:exon1:c.G1770A:p.P590P,ENSG00000137501:ENST00000359152:exon1:c.G3342A:p.P1114P,ENSG00000137501:ENST00000389959:exon1:c.G1770A:p.P590P,ENSG00000137501:ENST00000525423:exon1:c.G1770A:p.P590P,ENSG00000137501:ENST00000530351:exon1:c.G27A:p.P9P NA NA 11q14.1 NA NA NA NA rs550404 0.63 0.63 0.626 0.601637 0.6541 0.6042 0.5461 0.6483 0.5215 0.66 0.58 0.59 0.67 0.6369 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 -0.359848 NA NA 0.656432 0.648207 NA 0.413 NA 3.7192346 1288 5 68728544 68728544 G A intronic MARVELD2 NA NA NA intronic ENSG00000152939 NA NA NA NA NA 5q13.2 NA Name=NFKB,IRF4_(M-17),BCL11A,SP1,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 1288 3 155652860 155652860 C T intronic GMPS NA NA NA intronic ENSG00000163655 NA NA NA NA NA 3q25.31 NA NA NA NA rs75672038 0.04 0.04 0.035 0.0549121 0.0954 0.002 0.0447 0.0242 0.1166 0.09 0.0017 0.04 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 0.589775 NA NA 0.100439 0.038108 NA 0.036 NA 3.718961 1288 12 122817507 122817507 A G intronic CLIP1 NA NA NA intronic ENSG00000130779 NA NA NA NA NA 12q24.31 NA Name=MafK_(ab50322),eGFP-GATA2 Name=3 NA rs7956480 0.8 0.8 0.816 0.820687 0.7604 0.8552 0.6916 0.8752 0.865 0.76 0.86 0.69 0.87 0.7756 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 0.536008 NA NA 0.745057 0.848842 NA 0.783 NA 3.718943 1288 20 25271286 25271286 A G intronic PYGB NA NA NA intronic ENSG00000100994 NA NA NA NA NA 20p11.21 NA NA NA NA rs6115130 0.07 0.07 0.066 0.0664936 0.0865 0.001 0.0375 0.0968 0.093 0.09 NA 0.05 0.11 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 -0.54693 NA NA 0.102907 0.096686 NA 0.159 NA 3.718593 1288 1 175375683 175375683 T C exonic TNR NA synonymous SNV TNR:NM_003285:exon3:c.A168G:p.T56T exonic ENSG00000116147 NA synonymous SNV ENSG00000116147:ENST00000367674:exon3:c.A168G:p.T56T,ENSG00000116147:ENST00000263525:exon4:c.A168G:p.T56T NA NA 1q25.1 NA NA NA NA rs859399 0.72 0.72 0.719 0.726837 0.6302 0.8194 0.7781 0.7625 0.6462 0.62 0.82 0.73 0.75 0.6758 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 -1.17837 NA NA 0.642209 0.756695 NA 0.768 NA 3.7184576 1288 1 220319007 220319007 A G intronic IARS2 NA NA NA intronic ENSG00000067704 NA NA NA NA NA 1q41 NA NA NA NA rs75519000 0.07 0.07 0.048 0.0690895 0.0855 0.0496 0.0576 0.028 0.136 0.08 0.06 0.07 0.04 0.1023 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 -0.204681 NA NA 0.094186 0.046074 NA 0.058 NA 3.718014 1288 3 121659197 121659197 G A intronic SLC15A2 NA NA NA intronic ENSG00000163406 NA NA NA NA NA 3q13.33 NA Name=FOXA1_(SC-101058),FOXA1_(C-20) Name=6 NA rs3817599 0.76 0.76 0.753 0.724441 0.7584 0.87 0.7003 0.6952 0.5961 0.76 0.89 0.69 0.67 0.7466 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 0.348424 NA NA 0.777093 0.709714 NA 0.739 NA 3.717907 1288 1 24388417 24388417 A G intronic MYOM3 NA NA NA ncRNA_intronic ENSG00000225315 NA NA NA NA NA 1p36.11 NA NA NA NA rs11811060 0.25 0.25 0.258 0.269369 0.2038 0.4058 0.1282 0.2027 0.3865 0.2 0.41 0.13 0.21 0.2277 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134327 NA NA 0.183938 0.200356 NA 0.283 NA 3.7178953 1288 16 48258381 48258381 T A intronic ABCC11 NA NA NA intronic ENSG00000121270 NA NA NA NA NA 16q12.1 NA NA NA NA rs73546424 0.11 0.11 0.104 0.114018 0.1014 0.0427 0.0908 0.2421 0.044 0.1 0.02 0.1 0.23 0.0946 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032051 NA NA 0.086279 0.206364 NA 0.152 NA 3.717721 1288 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 1288 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 1288 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 1288 1 212560327 212560327 A G exonic TMEM206 NA synonymous SNV TMEM206:NM_018252:exon3:c.T249C:p.F83F,TMEM206:NM_001198862:exon4:c.T432C:p.F144F exonic ENSG00000065600 NA synonymous SNV ENSG00000065600:ENST00000261455:exon3:c.T249C:p.F83F,ENSG00000065600:ENST00000535273:exon4:c.T432C:p.F144F Score=547;Name=lod=222 NA 1q32.3 NA NA NA NA rs792449 0.99 0.99 NA 0.99381 0.9811 1 0.9899 0.997 0.999 0.98 1 1 1 0.9871 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.517673 1.517673 NA 0.981047 0.997049 NA 1 NA 3.7174196 1288 2 101911385 101911385 A G intronic RNF149 NA NA NA intronic ENSG00000163162 NA NA NA NA NA 2q11.2 NA Name=GATA-2 NA NA rs3828194 0.43 0.43 0.385 0.404553 0.4374 0.5278 0.464 0.2557 0.4029 0.44 0.54 0.47 0.26 0.4265 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.025283 2.025283 NA 0.418837 0.297549 NA 0.319 NA 3.717263 1288 19 8201250 8201250 C G intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs74793033 0.05 0.05 0.047 0.0599042 0.0924 0.0387 0.0432 0.0151 0.1207 0.09 0.03 0.05 0.02 0.084 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 -0.793962 NA NA 0.106653 0.026782 NA 0.022 NA 3.716947 1288 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 1288 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 1288 20 16496362 16496362 T A intronic KIF16B NA NA NA intronic ENSG00000089177 NA NA NA NA NA 20p12.1 NA NA NA NA rs6044046 0.25 0.25 0.232 0.241014 0.2833 0.38 0.2839 0.0582 0.271 0.28 0.36 0.28 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 3.78945 3.78945 NA NA NA NA 0.188 NA 3.7167 1288 3 45565554 45565554 A G exonic LARS2 NA synonymous SNV LARS2:NM_015340:exon20:c.A2358G:p.V786V exonic ENSG00000011376 NA synonymous SNV ENSG00000011376:ENST00000414984:exon18:c.A2229G:p.V743V,ENSG00000011376:ENST00000415258:exon19:c.A2358G:p.V786V,ENSG00000011376:ENST00000265537:exon20:c.A2358G:p.V786V Score=395;Name=lod=54 NA 3p21.31 NA NA NA NA rs267220 0.9 0.9 0.879 0.860823 0.996 1 0.9481 0.528 0.9663 1 1 0.95 0.59 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 1.341666 1.341666 NA 0.99686 0.618475 NA 0.812 NA 3.7163066 1288 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 1288 8 145665516 145665516 T C exonic TONSL NA synonymous SNV TONSL:NM_013432:exon11:c.A1368G:p.L456L exonic ENSG00000160949 NA synonymous SNV ENSG00000160949:ENST00000409379:exon11:c.A1368G:p.L456L Score=391;Name=lod=52 NA 8q24.3 NA NA NA NA rs2306383 0.91 0.91 0.905 0.914537 0.994 0.8065 0.9107 0.8759 0.999 1 0.79 0.92 0.89 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 -0.585528 NA NA 0.99581 0.899183 NA 0.928 NA 3.7156566 1288 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 1288 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 1288 13 42703682 42703682 T C intronic DGKH NA NA NA intronic ENSG00000102780 NA NA NA Score=664;Name=lod=664 NA 13q14.11 NA NA NA NA rs3742261 0.31 0.31 0.289 0.315096 0.4125 0.1855 0.4337 0.18 0.4468 0.42 0.18 0.46 0.19 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 1.618779 1.618779 NA 0.43593 0.20926 ID=COSM147678;OCCURENCE=1(stomach) 0.333 NA 3.71507 1289 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 1289 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 1289 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 1289 2 9491017 9491017 C T exonic ASAP2 NA synonymous SNV ASAP2:NM_001135191:exon12:c.C1104T:p.L368L,ASAP2:NM_003887:exon12:c.C1104T:p.L368L exonic ENSG00000151693 NA synonymous SNV ENSG00000151693:ENST00000281419:exon12:c.C1104T:p.L368L,ENSG00000151693:ENST00000315273:exon12:c.C1104T:p.L368L Score=546;Name=lod=221 NA 2p25.1 NA NA NA NA rs4669385 0.9 0.9 0.89 0.88099 0.998 0.9196 0.9611 0.677 0.9397 1 0.91 0.96 0.71 0.9571 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.462114 1.462114 NA 0.997326 0.735815 NA 0.877 NA 3.7142406 1289 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 1289 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 1289 16 4944518 4944518 C G exonic PPL NA synonymous SNV PPL:NM_002705:exon12:c.G1344C:p.V448V exonic ENSG00000118898 NA synonymous SNV ENSG00000118898:ENST00000345988:exon12:c.G1344C:p.V448V,ENSG00000118898:ENST00000590782:exon12:c.G1338C:p.V446V Score=472;Name=lod=111 NA 16p13.3 NA NA NA NA rs1876363 0.89 0.89 0.862 0.865615 0.996 1 0.9597 0.5151 1 1 1 0.95 0.56 0.9589 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.765873 NA NA 0.99814 0.565772 NA 0.833 NA 3.7136266 1289 1 9801341 9801341 G A intronic CLSTN1 NA NA NA intronic ENSG00000171603 NA NA NA NA NA 1p36.22 NA NA NA NA rs10864436 0.15 0.15 0.155 0.189097 0.0706 0.1508 0.1758 0.2103 0.3313 0.07 0.18 0.15 0.23 0.1355 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.817388 NA NA 0.080349 0.179074 NA 0.174 NA 3.713551 1289 X 135310765 135310765 G A intronic MAP7D3 NA NA NA intronic ENSG00000129680 NA NA NA NA NA Xq26.3 NA NA NA NA rs2273220 0.23 0.23 0.20032 NA NA NA NA NA NA 0.12 0.62 0.18 0.01 0.1707 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.392101 NA NA 0.115922 0.022595 NA 0.087 NA 3.713378 1289 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 1289 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 1289 16 69458779 69458779 G A intronic CYB5B NA NA NA intronic ENSG00000103018 NA NA NA NA NA 16q22.1 NA Name=ELK4,Pol2,ETS1,IRF4_(M-17) 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 1289 19 1978271 1978271 C T intronic CSNK1G2 NA NA NA intronic ENSG00000133275 NA NA NA NA NA 19p13.3 NA NA NA NA rs740423 0.17 0.17 0.176 0.179513 0.0865 0.0843 0.0605 0.4206 0.1319 0.1 0.09 0.07 0.44 0.1152 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732756 NA NA 0.085233 0.376986 NA 0.138 NA 3.713067 1289 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 1289 12 6085447 6085447 G A intronic VWF NA NA NA intronic ENSG00000110799 NA NA NA NA NA 12p13.31 NA NA NA NA rs3819539 0.12 0.12 0.09 0.110823 0.1123 0.244 0.0504 0.0189 0.1391 0.11 0.24 0.07 0.02 0.0914 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.601027 1.601027 NA 0.083256 0.024739 NA NA NA 3.713044 1289 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 1289 10 72504956 72504956 G T intronic ADAMTS14 NA NA NA intronic ENSG00000138316 NA NA NA NA NA 10q22.1 NA NA NA NA rs11599374 0.06 0.06 0.062 0.0607029 0.1093 NA 0.0432 0.053 0.0961 0.11 NA 0.05 0.07 0.085 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 -0.293937 NA NA 0.093023 0.070359 NA 0.116 NA 3.712677 1289 9 95219597 95219597 G A exonic ASPN NA synonymous SNV ASPN:NM_017680:exon8:c.C1116T:p.S372S exonic ENSG00000106819 NA synonymous SNV ENSG00000106819:ENST00000375544:exon8:c.C1116T:p.S372S Score=589;Name=lod=331 NA 9q22.31 NA NA NA NA rs4744132 0.99 0.99 0.994 0.991014 0.9871 1 0.9942 1 0.9714 0.99 1 0.99 1 0.9841 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.674909 NA NA 0.982791 0.996369 NA 0.993 NA 3.7126756 1289 7 80374342 80374342 A G exonic SEMA3C NA synonymous SNV SEMA3C:NM_006379:exon18:c.T2124C:p.Y708Y exonic ENSG00000075223 NA synonymous SNV ENSG00000075223:ENST00000265361:exon18:c.T2124C:p.Y708Y,ENSG00000075223:ENST00000419255:exon18:c.T2124C:p.Y708Y,ENSG00000075223:ENST00000544525:exon18:c.T2178C:p.Y726Y Score=500;Name=lod=143 NA 7q21.11 NA NA NA NA rs1949971 0.93 0.93 0.906 0.916334 0.994 1 0.9885 0.7292 0.9519 0.99 1 0.99 0.7 0.9687 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.679209 NA NA 0.991628 0.783704 NA 0.891 NA 3.7123386 1289 5 174868840 174868840 T C exonic DRD1 NA synonymous SNV DRD1:NM_000794:exon2:c.A1263G:p.S421S exonic ENSG00000184845 NA synonymous SNV ENSG00000184845:ENST00000393752:exon2:c.A1263G:p.S421S NA NA 5q35.2 Score=985;Name=V$GATA6_01 NA NA NA rs155417 0.99 0.99 0.991 0.993011 0.9841 1 0.9813 0.997 0.998 0.99 1 0.99 0.99 0.9877 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824719 NA NA 0.982674 0.995688 NA 1 NA 3.7121926 1289 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 1289 16 48250218 48250218 T C intronic ABCC11 NA NA NA intronic ENSG00000121270 NA NA NA NA NA 16q12.1 NA NA NA NA rs28654935 0.12 0.12 0.107 0.128994 0.1014 0.0446 0.0893 0.298 0.044 0.1 0.02 0.1 0.27 0.0989 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.483009 NA NA 0.08814 0.252158 NA 0.145 NA 3.71156 1289 16 48250221 48250221 G A intronic ABCC11 NA NA NA intronic ENSG00000121270 NA NA NA NA NA 16q12.1 NA NA NA NA rs28376623 0.12 0.12 0.11 0.128994 0.1014 0.0446 0.0893 0.298 0.044 0.1 0.02 0.1 0.27 0.0989 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.344731 NA NA 0.08814 0.252158 NA 0.145 NA 3.71156 1289 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 1289 19 44501116 44501116 A G exonic ZNF155 NA synonymous SNV ZNF155:NM_001260486:exon5:c.A1107G:p.E369E,ZNF155:NM_001260487:exon5:c.A1107G:p.E369E,ZNF155:NM_003445:exon5:c.A1107G:p.E369E,ZNF155:NM_198089:exon5:c.A1107G:p.E369E,ZNF155:NM_001260488:exon6:c.A1140G:p.E380E exonic ENSG00000204920 NA synonymous SNV ENSG00000204920:ENST00000270014:exon5:c.A1107G:p.E369E,ENSG00000204920:ENST00000590615:exon5:c.A1107G:p.E369E,ENSG00000204920:ENST00000407951:exon6:c.A1140G:p.E380E Score=378;Name=lod=46 NA 19q13.31 NA NA NA NA rs388812 0.92 0.92 0.908 0.90655 0.993 1 0.9712 0.6694 0.9959 0.99 1 0.97 0.67 0.969 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.719099 1.719099 NA 0.993372 0.720608 NA 0.92 NA 3.7112946 1289 2 242189231 242189231 T C intronic HDLBP NA NA NA intronic ENSG00000115677 NA NA NA NA NA 2q37.3 NA NA NA NA rs12475607 0.07 0.07 0.069 0.0585064 0.1024 0.0347 0.072 0.0204 0.0798 0.11 0.05 0.05 0.03 0.0864 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 -0.201308 NA NA 0.1 0.027463 NA 0.058 NA 3.7112 1289 16 48250011 48250011 G A intronic ABCC11 NA NA NA intronic ENSG00000121270 NA NA NA NA NA 16q12.1 NA NA NA NA rs11863233 0.12 0.12 0.12 0.128994 0.1014 0.0446 0.0893 0.298 0.044 0.1 0.02 0.1 0.27 0.0993 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.59922 NA NA 0.08814 0.251249 NA 0.145 NA 3.71116 1289 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 1289 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 1289 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 1289 17 34935878 34935878 C A intronic GGNBP2 NA NA NA intronic ENSG00000005955 NA NA NA NA NA 17q12 NA NA Name=7 NA rs2074103 0.37 0.37 0.387 0.340455 0.4453 0.372 0.3372 0.2451 0.3313 0.44 0.4 0.35 0.25 0.3919 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.107966 NA NA 0.452442 0.275533 NA 0.304 NA 3.710358 1289 17 38179667 38179667 A G intronic MED24 NA NA NA intronic ENSG00000008838 NA NA NA NA NA 17q21.1 NA Name=AP-2alpha,ERalpha_a,c-Myc Name=7 NA rs2302778 0.74 0.74 0.718 0.735623 0.7525 0.8562 0.7738 0.6293 0.7106 0.74 0.83 0.8 0.6 0.7663 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 0.95088 NA NA 0.771066 0.642045 NA 0.732 NA 3.710134 1289 15 42579948 42579948 T C exonic GANC NA synonymous SNV GANC:NM_198141:exon4:c.T261C:p.N87N exonic ENSG00000214013 NA synonymous SNV ENSG00000214013:ENST00000318010:exon4:c.T261C:p.N87N,ENSG00000214013:ENST00000562859:exon5:c.T261C:p.N87N,ENSG00000214013:ENST00000566442:exon5:c.T261C:p.N87N Score=514;Name=lod=164 NA 15q15.1 NA NA NA NA rs8037627 0.91 0.91 0.898 0.872404 0.996 0.9415 0.9755 0.6316 0.9264 1 0.94 0.98 0.68 0.9625 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.058635 NA NA 0.998372 0.716977 NA 0.891 NA 3.7097946 1289 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 1289 12 6085445 6085445 G A intronic VWF NA NA NA intronic ENSG00000110799 NA NA NA NA NA 12p13.31 NA NA NA NA rs3819540 0.12 0.12 0.102 0.119609 0.1123 0.244 0.0533 0.0507 0.1391 0.11 0.24 0.07 0.05 0.0947 0.24 NA NA 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 0.083372 0.060599 NA 0.007 NA 3.709628 1289 2 44152995 44152995 C G intronic LRPPRC NA NA NA intronic ENSG00000138095 NA NA NA NA NA 2p21 NA NA NA NA rs62138281 0.06 0.06 0.064 0.0710863 0.0974 0.001 0.0447 0.0756 0.1288 0.1 0.0017 0.04 0.08 0.0927 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 0.720162 NA NA 0.100349 0.081707 NA 0.072 NA 3.709551 1289 17 1377884 1377884 C T intronic MYO1C NA NA NA intronic ENSG00000197879 NA NA NA NA NA 17p13.3 NA Name=PAX5-C20 NA NA rs2286872 0.33 0.33 0.312 0.321885 0.4264 0.3115 0.3343 0.2042 0.3753 0.42 0.3 0.37 0.2 0.4057 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121848 NA NA 0.458488 0.240808 NA 0.384 NA 3.709412 1289 14 23855478 23855478 C G intronic MYH6 NA NA NA intronic ENSG00000197616 NA NA NA NA NA 14q11.2 NA NA NA NA rs396024 0.05 0.05 0.049 0.0365415 0.1014 0.001 0.0389 0.0212 0.0256 0.11 NA 0.04 0.04 0.0746 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 -0.414395 NA NA 0.114884 0.032456 NA 0.051 NA 3.709116 1289 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 1289 19 58573083 58573083 A G intronic ZNF135 NA NA NA intronic ENSG00000176293 NA NA NA NA NA 19q13.43 NA NA NA NA rs1469086 0.05 0.05 0.038 0.0529153 0.0984 0.001 0.1311 0.0068 0.0665 0.09 NA 0.12 0.01 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 -0.346909 NA NA 0.100581 0.017703 NA 0.087 NA 3.709019 1289 4 156632391 156632391 A G exonic GUCY1A3 NA synonymous SNV GUCY1A3:NM_001130684:exon5:c.A1074G:p.K358K,GUCY1A3:NM_001130682:exon6:c.A1074G:p.K358K,GUCY1A3:NM_001130683:exon6:c.A1074G:p.K358K,GUCY1A3:NM_001130685:exon6:c.A369G:p.K123K,GUCY1A3:NM_001130687:exon6:c.A1074G:p.K358K,GUCY1A3:NM_001256449:exon6:c.A1074G:p.K358K,GUCY1A3:NM_000856:exon7:c.A1074G:p.K358K exonic ENSG00000164116 NA synonymous SNV ENSG00000164116:ENST00000513574:exon5:c.A1074G:p.K358K,ENSG00000164116:ENST00000296518:exon6:c.A1074G:p.K358K,ENSG00000164116:ENST00000393832:exon6:c.A300G:p.K100K,ENSG00000164116:ENST00000455639:exon6:c.A1074G:p.K358K,ENSG00000164116:ENST00000506455:exon6:c.A1074G:p.K358K,ENSG00000164116:ENST00000511507:exon6:c.A1074G:p.K358K,ENSG00000164116:ENST00000511108:exon7:c.A1074G:p.K358K Score=467;Name=lod=105 NA 4q32.1 NA NA NA NA rs11944673 0.98 0.98 0.981 0.979433 0.9861 1 0.9885 0.9395 0.999 0.99 1 0.98 0.94 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 0.851976 NA NA 0.985263 0.950893 NA 0.942 NA 3.7090036 1289 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 1289 20 41306445 41306445 A G intronic PTPRT NA NA NA intronic ENSG00000196090 NA NA NA NA NA 20q12 NA NA NA NA rs2425515 0.3 0.3 0.281 0.266374 0.2913 0.2252 0.2997 0.348 0.1493 0.31 0.24 0.33 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 0.41794 NA NA NA NA NA 0.181 NA 3.7087 1289 16 23224106 23224106 T C intronic SCNN1G NA NA NA ncRNA_intronic ENSG00000260741 NA NA NA NA NA 16p12.2 NA NA NA NA rs12708649 0.18 0.18 0.164 0.154952 0.2227 0.0585 0.1441 0.2542 0.0583 0.22 0.07 0.16 0.28 0.1782 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.109333 NA NA 0.223953 0.251024 NA 0.123 NA 3.7084803 1289 21 32526758 32526758 G T intronic TIAM1 NA NA NA intronic ENSG00000156299 NA NA NA NA NA 21q22.11 NA NA NA NA rs78007898 0.1 0.1 0.077 0.095647 0.0924 0.2361 0.0375 0.0045 0.1186 0.1 0.23 0.04 0.002 0.0996 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.490443 1.490443 NA 0.099535 0.022696 NA 0.022 NA 3.708465 1289 8 103309862 103309862 T C intronic UBR5 NA NA NA intronic ENSG00000104517 NA NA NA NA NA 8q22.3 NA NA NA NA rs7003460 0.05 0.05 0.053 0.0519169 0.1193 0.0119 0.0418 0.0136 0.0828 0.12 0.01 0.04 0.01 0.0815 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 0.272697 NA NA 0.091395 0.022015 NA 0.051 NA 3.707805 1289 20 24993220 24993220 A G intronic ACSS1 NA NA NA intronic ENSG00000154930 NA NA NA NA NA 20p11.21 NA NA NA NA rs56222810 0.08 0.08 0.075 0.0954473 0.0994 0.003 0.0749 0.1762 0.092 0.1 0.0017 0.07 0.16 0.0907 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.29543 NA NA 0.102209 0.168634 NA 0.109 NA 3.707691 1289 9 134514011 134514011 T C intronic RAPGEF1 NA NA NA intronic ENSG00000107263 NA NA NA NA NA 9q34.13 NA NA NA NA rs41317002 0.07 0.07 0.069 0.0748802 0.0994 NA 0.0764 0.093 0.1012 0.1 NA 0.06 0.12 0.0956 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 -0.466955 NA NA 0.097344 0.092495 NA 0.058 NA 3.707656 1289 16 23224416 23224416 G A intronic SCNN1G NA NA NA ncRNA_exonic ENSG00000260741 NA NA NA NA NA 16p12.2 NA NA NA NA rs13306653 0.18 0.18 0.181 0.155351 0.2237 0.0595 0.1441 0.2542 0.0583 0.22 0.07 0.16 0.28 0.1782 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.731963 NA NA 0.223953 0.251252 NA 0.13 NA 3.7074803 1289 22 21800444 21800444 T C exonic HIC2 NA synonymous SNV HIC2:NM_015094:exon3:c.T1260C:p.H420H exonic ENSG00000169635 NA synonymous SNV ENSG00000169635:ENST00000443632:exon2:c.T1260C:p.H420H,ENSG00000169635:ENST00000407464:exon3:c.T1260C:p.H420H,ENSG00000169635:ENST00000407598:exon3:c.T1260C:p.H420H NA NA 22q11.21 NA Name=HMGN3 NA NA rs128477 0.98 0.98 0.992 0.94349 0.994 0.9345 0.9928 1 0.7894 0.99 0.95 0.99 1 0.971 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.652304 NA NA 0.994288 0.998176 NA 0.986 NA 3.7073786 1289 10 104650251 104650251 T C ncRNA_intronic C10orf32-AS3MT NA NA NA intronic ENSG00000214435,ENSG00000270316 NA NA NA NA NA 10q24.32 NA NA NA NA rs7085854 0.19 0.19 0.175 0.195887 0.2127 0.2093 0.1239 0.2194 0.184 0.22 0.17 0.15 0.21 0.1982 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.531905 1.531905 NA 0.215303 0.200054 NA 0.174 NA 3.7071303 1289 16 419923 419923 G C intronic MRPL28 NA NA NA intronic ENSG00000086504 NA NA NA NA NA 16p13.3 NA NA NA NA rs73492331 0.11 0.11 0.074 0.104832 0.0885 0.005 0.0836 0.2458 0.0491 0.1 0.01 0.11 0.27 0.0987 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1694 NA NA 0.105747 0.23 NA 0.087 NA 3.707053 1289 4 47322190 47322190 T C exonic GABRB1 NA synonymous SNV GABRB1:NM_000812:exon5:c.T508C:p.L170L exonic ENSG00000163288 NA synonymous SNV ENSG00000163288:ENST00000538619:exon4:c.T298C:p.L100L,ENSG00000163288:ENST00000295454:exon5:c.T508C:p.L170L Score=615;Name=lod=420 NA 4p12 NA NA NA NA rs4482737 0.98 0.98 0.973 0.969649 0.9901 1 0.9784 0.9047 0.999 0.99 1 0.99 0.93 0.9841 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.300389 1.300389 NA 0.985814 0.914208 NA 0.964 NA 3.7066526 1289 17 8108339 8108339 G A exonic AURKB NA synonymous SNV AURKB:NM_001256834:exon8:c.C762T:p.S254S,AURKB:NM_004217:exon9:c.C885T:p.S295S exonic ENSG00000178999 NA synonymous SNV ENSG00000178999:ENST00000534871:exon8:c.C762T:p.S254S,ENSG00000178999:ENST00000578549:exon8:c.C789T:p.S263S,ENSG00000178999:ENST00000316199:exon9:c.C888T:p.S296S,ENSG00000178999:ENST00000585124:exon9:c.C885T:p.S295S NA NA 17p13.1 NA NA NA NA rs2241909 0.62 0.62 0.577 0.620807 0.66 0.5179 0.696 0.5545 0.7229 0.68 0.59 0.68 0.51 0.6547 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.810351 NA NA 0.645465 0.565365 NA 0.623 NA 3.7065016 1289 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 1289 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 1289 19 56490778 56490778 C T exonic NLRP8 NA synonymous SNV NLRP8:NM_176811:exon9:c.C2895T:p.F965F exonic ENSG00000179709 NA synonymous SNV ENSG00000179709:ENST00000291971:exon9:c.C2895T:p.F965F,ENSG00000179709:ENST00000590542:exon9:c.C2838T:p.F946F NA NA 19q13.43 NA NA NA NA rs306475 0.61 0.61 0.61 0.615815 0.665 0.3403 0.6614 0.7738 0.6033 0.69 0.35 0.67 0.76 0.6346 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 -0.618738 NA NA 0.660814 0.779619 NA 0.572 NA 3.7062526 1289 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 1289 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 1289 2 220414016 220414016 C T exonic TMEM198 NA synonymous SNV TMEM198:NM_001005209:exon4:c.C885T:p.D295D exonic ENSG00000188760 NA synonymous SNV ENSG00000188760:ENST00000373883:exon4:c.C885T:p.D295D,ENSG00000188760:ENST00000344458:exon5:c.C885T:p.D295D Score=581;Name=lod=307 NA 2q35 NA NA NA NA rs6436156 0.9 0.9 0.921 0.934505 0.994 0.997 0.9712 0.7746 0.999 0.94 0.97 0.93 0.75 0.9779 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 1.353042 1.353042 NA 0.988835 0.747844 NA 0.899 NA 3.7059316 1289 8 141684170 141684170 T C intronic PTK2 NA NA NA intronic ENSG00000169398 NA NA NA NA NA 8q24.3 NA NA NA NA rs3639 0.23 0.23 0.2 0.233227 0.2942 0.0893 0.3573 0.1997 0.2761 0.3 0.08 0.34 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 0.258239 NA NA NA NA NA 0.174 NA 3.7058 1289 8 121530190 121530190 A G exonic MTBP NA synonymous SNV MTBP:NM_022045:exon19:c.A2346G:p.E782E exonic ENSG00000172167 NA synonymous SNV ENSG00000172167:ENST00000305949:exon19:c.A2346G:p.E782E NA NA 8q24.12 NA NA NA NA rs13258848 0.52 0.52 0.47 0.478634 0.6869 0.5774 0.6066 0.1483 0.5184 0.68 0.56 0.62 0.15 0.6014 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.268197 NA NA 0.672674 0.232864 NA 0.464 NA 3.7056926 1289 15 89392745 89392745 T C exonic ACAN NA synonymous SNV ACAN:NM_001135:exon10:c.T1809C:p.A603A,ACAN:NM_013227:exon10:c.T1809C:p.A603A exonic ENSG00000157766 NA synonymous SNV ENSG00000157766:ENST00000561243:exon9:c.T1809C:p.A603A,ENSG00000157766:ENST00000352105:exon10:c.T1809C:p.A603A,ENSG00000157766:ENST00000439576:exon10:c.T1809C:p.A603A,ENSG00000157766:ENST00000558207:exon10:c.T1809C:p.A603A,ENSG00000157766:ENST00000559004:exon10:c.T1809C:p.A603A Score=272;Name=lod=17 NA 15q26.1 NA NA NA NA rs1568116 0.99 0.99 0.992 0.995607 0.9841 1 0.9986 1 0.9949 0.99 1 1 1 0.991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.594151 NA NA 0.985922 0.998764 NA 1 NA 3.7056446 1289 10 120933324 120933324 G A exonic PRDX3 NA synonymous SNV PRDX3:NM_006793:exon4:c.C372T:p.D124D,PRDX3:NM_014098:exon4:c.C318T:p.D106D exonic ENSG00000165672 NA synonymous SNV ENSG00000165672:ENST00000298510:exon4:c.C372T:p.D124D,ENSG00000165672:ENST00000356951:exon4:c.C318T:p.D106D Score=461;Name=lod=100 NA 10q26.11 NA NA NA NA rs3758609 0.95 0.95 0.964 0.953275 0.997 0.9127 0.9337 0.938 0.9847 1 0.91 0.92 0.96 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 0.83301 NA NA 0.991047 0.944167 NA 0.949 NA 3.7054196 1289 15 42458347 42458347 T C intronic VPS39 NA NA NA intronic ENSG00000166887 NA NA NA NA NA 15q15.1 NA NA NA NA rs663454 0.13 0.13 0.132 0.160942 0.0845 0.0843 0.1801 0.211 0.2372 0.08 0.09 0.19 0.22 0.1286 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.437936 1.437936 NA 0.081531 0.189514 NA 0.094 NA 3.705369 1289 3 30769931 30769931 G A intronic GADL1 NA NA NA intronic ENSG00000144644 NA NA NA NA NA 3p24.1 NA NA NA NA rs12054099 0.13 0.13 0.14 0.148962 0.0825 0.2232 0.049 0.1278 0.2403 0.09 0.22 0.05 0.14 0.124 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15461 NA NA 0.08814 0.127099 NA 0.116 NA 3.70536 1289 1 226016633 226016633 G A intronic EPHX1 NA NA NA intronic ENSG00000143819 NA NA NA NA NA 1q42.12 NA NA NA NA rs3738047 0.11 0.11 0.103 0.120607 0.0765 0.2639 0.1124 0.003 0.183 0.08 0.23 0.14 0.0041 0.1361 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.679896 NA NA 0.082158 0.02046 NA 0.167 NA 3.705242 1289 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 1290 13 47308109 47308109 A G exonic LRCH1 NA synonymous SNV LRCH1:NM_001164213:exon18:c.A1956G:p.A652A,LRCH1:NM_015116:exon18:c.A1956G:p.A652A,LRCH1:NM_001164211:exon19:c.A2061G:p.A687A exonic ENSG00000136141 NA synonymous SNV ENSG00000136141:ENST00000311191:exon18:c.A1956G:p.A652A,ENSG00000136141:ENST00000389798:exon18:c.A1956G:p.A652A,ENSG00000136141:ENST00000389797:exon19:c.A2061G:p.A687A NA NA 13q14.2 Score=840;Name=V$AHRARNT_01 NA NA NA rs2298086 0.94 0.94 0.92 0.911941 0.997 0.8849 0.9755 0.823 0.9274 1 0.9 0.96 0.87 0.9674 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.206599 NA NA 0.997324 0.846573 NA 0.942 NA 3.7049426 1290 3 9975247 9975247 C G exonic IL17RC NA synonymous SNV IL17RC:NM_001203264:exon17:c.C2043G:p.G681G,IL17RC:NM_001203265:exon17:c.C2037G:p.G679G,IL17RC:NM_001203263:exon18:c.C2094G:p.G698G,IL17RC:NM_032732:exon18:c.C2088G:p.G696G,IL17RC:NM_153460:exon19:c.C2133G:p.G711G,IL17RC:NM_153461:exon19:c.C2346G:p.G782G exonic ENSG00000163702 NA synonymous SNV ENSG00000163702:ENST00000416074:exon15:c.C1611G:p.G537G,ENSG00000163702:ENST00000455057:exon17:c.C2037G:p.G679G,ENSG00000163702:ENST00000383812:exon18:c.C2088G:p.G696G,ENSG00000163702:ENST00000413608:exon18:c.C2094G:p.G698G,ENSG00000163702:ENST00000295981:exon19:c.C2346G:p.G782G,ENSG00000163702:ENST00000403601:exon19:c.C2133G:p.G711G NA NA 3p25.3 NA Name=c-Myc,Max,Mxi1_(bHLH),NRSF,Sin3Ak-20,ZBTB7A_(SC-34508),TBP,Egr-1,AP-2gamma,Pol2,Pol2(phosphoS2),E2F6,E2F6_(H-50),Pol2-4H8,TAF1,ETS1 NA NA rs183956 0.99 0.99 0.986 0.98722 0.9831 0.999 0.9942 0.9728 0.9939 0.98 1 0.99 0.97 0.9896 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224094 NA NA 0.989125 0.985397 NA 0.986 NA 3.7048416 1290 3 128624880 128624880 T G intronic ACAD9 NA NA NA intronic ENSG00000177646 NA NA NA NA NA 3q21.3 NA NA NA NA rs1683777 0.51 0.51 0.483 0.527157 0.2952 0.626 0.4251 0.7882 0.3834 0.28 0.62 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 0.186976 NA NA NA NA NA 0.536 NA 3.7048 1290 3 128627753 128627753 T C intronic ACAD9 NA NA NA intronic ENSG00000177646 NA NA NA NA NA 3q21.3 NA NA NA NA rs876754 0.5 0.5 0.495 0.517372 0.2952 0.6181 0.3703 0.7859 0.3834 0.28 0.61 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 -0.301253 NA NA NA NA NA 0.551 NA 3.7048 1290 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 1290 19 51528832 51528832 C T intronic KLK11 NA NA NA intronic ENSG00000167757 NA NA NA NA NA 19q13.41 NA NA NA NA rs62117661 0.06 0.06 0.053 0.0517173 0.0984 0.0813 0.072 0.0045 0.0225 0.1 0.06 0.07 0.01 0.102 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 0.064229 NA NA 0.095022 0.021562 NA 0.051 NA 3.704578 1290 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 1290 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 1290 6 39033602 39033602 A G exonic GLP1R NA synonymous SNV GLP1R:NM_002062:exon4:c.A399G:p.E133E exonic ENSG00000112164 NA synonymous SNV ENSG00000112164:ENST00000373256:exon4:c.A399G:p.E133E Score=512;Name=lod=160 NA 6p21.2 NA NA NA NA rs6918287 0.99 0.99 0.993 0.991214 0.9871 1 0.9928 1 0.9734 0.99 1 0.99 1 0.9885 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.776741 NA NA 0.987558 0.99773 NA 1 NA 3.7035086 1290 7 143016995 143016995 T A intronic CLCN1 NA NA NA intronic ENSG00000188037 NA NA NA NA NA 7q34 NA NA NA NA rs6948526 0.13 0.13 0.135 0.147564 0.0944 0.0288 0.0965 0.3298 0.1145 0.09 0.03 0.12 0.32 0.1067 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.148962 2.148962 NA 0.095465 0.302088 NA 0.145 NA 3.703435 1290 22 46685274 46685274 T C intronic TTC38 NA NA NA intronic ENSG00000075234 NA NA NA NA NA 22q13.31 NA NA NA NA rs11704586 0.06 0.06 0.047 0.0409345 0.1193 0.001 0.0576 0.0083 0.0337 0.12 NA 0.07 0.01 0.0756 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 1.530527 1.530527 NA 0.101709 0.017754 NA 0.022 NA 3.703391 1290 19 40368499 40368499 A C exonic FCGBP NA synonymous SNV FCGBP:NM_003890:exon28:c.T12849G:p.L4283L exonic ENSG00000090920 NA synonymous SNV ENSG00000090920:ENST00000221347:exon28:c.T12849G:p.L4283L NA NA 19q13.2 NA NA NA NA rs11083540 0.83 0.83 1 0.995208 0.998 0.998 0.9942 0.9939 0.9918 0.82 0.86 0.88 0.78 0.9655 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 -1.32513 NA NA NA NA NA NA NA 3.7031666 1290 1 11854457 11854457 G A exonic MTHFR NA synonymous SNV MTHFR:NM_005957:exon8:c.C1305T:p.F435F exonic ENSG00000177000 NA synonymous SNV ENSG00000177000:ENST00000376592:exon7:c.C1305T:p.F435F,ENSG00000177000:ENST00000376583:exon8:c.C1428T:p.F476F,ENSG00000177000:ENST00000376590:exon8:c.C1305T:p.F435F,ENSG00000177000:ENST00000376585:exon9:c.C1428T:p.F476F Score=575;Name=lod=289 NA 1p36.22 NA NA NA NA rs4846051 0.93 0.93 0.902 0.902955 0.997 0.996 0.9683 0.6558 0.998 1 1 0.98 0.69 0.9697 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.678082 NA NA 0.996977 0.682705 NA 0.87 NA 3.7029896 1290 17 78187954 78187954 A G intronic SGSH NA NA NA intronic ENSG00000181523 NA NA NA NA NA 17q25.3 NA NA NA NA rs6565647 0.47 0.47 0.448 0.514177 0.3827 0.4137 0.5778 0.6626 0.5072 0.39 0.39 0.54 0.63 0.5193 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369209 NA NA 0.395019 0.603417 NA 0.478 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078355.1;CLNDSDB=.;CLNDSDBID=. 3.702981 1290 1 236716959 236716959 C T exonic HEATR1 NA synonymous SNV HEATR1:NM_018072:exon43:c.G6159A:p.S2053S exonic ENSG00000119285 NA synonymous SNV ENSG00000119285:ENST00000366581:exon42:c.G5916A:p.S1972S,ENSG00000119285:ENST00000366582:exon43:c.G6159A:p.S2053S NA NA 1q43 NA NA NA NA rs2275685 0.55 0.55 0.519 0.484625 0.6759 0.4772 0.5072 0.3865 0.4121 0.68 0.49 0.54 0.41 0.6055 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.115744 NA NA 0.682442 0.442805 ID=COSM146832;OCCURENCE=1(stomach) 0.601 NA 3.7028246 1290 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 1290 12 131466562 131466562 T C exonic GPR133 NA synonymous SNV GPR133:NM_198827:exon5:c.T444C:p.Y148Y exonic ENSG00000111452 NA synonymous SNV ENSG00000111452:ENST00000261654:exon5:c.T444C:p.Y148Y,ENSG00000111452:ENST00000535015:exon6:c.T540C:p.Y180Y Score=432;Name=lod=76 NA 12q24.33 NA NA NA NA rs4759534 0.95 0.95 0.929 0.930112 0.994 0.995 0.9856 0.7557 0.9939 0.99 1 0.99 0.78 0.9746 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347777 NA NA 0.995349 0.781207 NA 0.949 NA 3.7027176 1290 5 462465 462465 C A intronic EXOC3 NA NA NA exonic ENSG00000180104 NA nonsynonymous SNV ENSG00000180104:ENST00000515601:exon6:c.C1351A:p.P451T NA NA 5p15.33 NA NA NA NA rs890972 0.55 0.55 0.577 0.579673 0.4533 0.5327 0.4928 0.8086 0.5102 0.44 0.51 0.48 0.8 0.5223 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 -0.356748 NA NA 0.488367 0.760644 NA 0.623 NA 3.7026997 1290 16 89663072 89663072 G A UTR3 CPNE7 NM_014427:c.*43G>A,NM_153636:c.*43G>A NA NA UTR3 ENSG00000178773 ENST00000268720:c.*43G>A,ENST00000319518:c.*43G>A,ENST00000568977:c.*233G>A,ENST00000526232:c.*26G>A NA NA NA NA 16q24.3 NA NA NA NA rs659974 0.28 0.28 0.237 0.296526 0.1899 0.3671 0.3646 0.2821 0.3047 0.2 0.37 0.31 0.28 0.2611 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.012795 NA NA 0.179678 0.234568 NA 0.37 NA 3.7026554 1290 7 5541657 5541657 G A exonic FBXL18 NA synonymous SNV FBXL18:NM_024963:exon3:c.C243T:p.S81S exonic ENSG00000155034 NA synonymous SNV ENSG00000155034:ENST00000382368:exon3:c.C243T:p.S81S,ENSG00000155034:ENST00000415009:exon3:c.C243T:p.S81S,ENSG00000155034:ENST00000453700:exon3:c.C243T:p.S81S NA NA 7p22.1 NA NA NA NA rs4724704 0.7 0.7 0.717 0.706869 0.6501 0.7351 0.5951 0.8268 0.6534 0.66 0.74 0.57 0.83 0.6854 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 0.094459 NA NA 0.628622 0.821704 NA 0.696 NA 3.7025446 1290 5 74011541 74011541 T A intronic HEXB NA NA NA intronic ENSG00000049860 NA NA NA NA NA 5q13.3 NA NA NA NA rs72764638 0.16 0.16 0.086 0.202676 0.1044 0.1766 0.2061 0.329 0.1575 0.1 0.15 0.18 0.27 0.1527 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317867 NA NA 0.040364 0.129098 NA 0.138 NA 3.702536 1290 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 1290 2 31567632 31567632 T G intronic XDH NA NA NA intronic ENSG00000158125 NA NA NA NA NA 2p23.1 NA NA NA NA rs207454 0.17 0.17 0.18 0.196685 0.0825 0.1806 0.0937 0.3714 0.1677 0.08 0.17 0.1 0.38 0.1226 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.250805 1.250805 NA 0.092442 0.320245 NA 0.188 NA 3.702458 1290 19 50926264 50926264 T C exonic SPIB NA nonsynonymous SNV SPIB:NM_001244000:exon4:c.T251C:p.L84P exonic ENSG00000142539,ENSG00000269404 NA nonsynonymous SNV ENSG00000269404:ENST00000594685:exon4:c.T362C:p.L121P NA NA 19q13.33 NA NA NA NA rs1673030 0.77 0.77 0.729 0.784145 0.8946 0.4246 0.8545 0.8994 0.8354 0.9 0.43 0.85 0.92 0.851 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 -1.358825 NA NA 0.885307 0.886229 NA 0.355 NA 3.7024264 1290 7 21628237 21628237 C T exonic DNAH11 NA synonymous SNV DNAH11:NM_001277115:exon11:c.C1956T:p.F652F exonic ENSG00000105877 NA synonymous SNV ENSG00000105877:ENST00000328843:exon11:c.C1956T:p.F652F,ENSG00000105877:ENST00000409508:exon11:c.C1956T:p.F652F Score=374;Name=lod=44 NA 7p15.3 NA NA NA NA rs6963535 0.99 0.99 0.99 0.990615 0.9871 1 0.9928 0.9947 0.9775 0.99 1 0.99 0.99 0.9904 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.999155 NA NA 0.986861 0.997323 NA 0.993 NA 3.7023056 1290 1 172356437 172356437 A G exonic DNM3 NA synonymous SNV DNM3:NM_001136127:exon18:c.A2211G:p.T737T,DNM3:NM_015569:exon19:c.A2223G:p.T741T exonic ENSG00000197959 NA synonymous SNV ENSG00000197959:ENST00000485254:exon2:c.A330G:p.T110T,ENSG00000197959:ENST00000367731:exon18:c.A2211G:p.T737T,ENSG00000197959:ENST00000355305:exon19:c.A2241G:p.T747T,ENSG00000197959:ENST00000358155:exon19:c.A2223G:p.T741T NA NA 1q24.3 Score=773;Name=V$PAX4_04 NA NA NA rs6688654 0.99 0.99 0.995 0.996605 0.9871 1 0.9942 1 1 0.98 1 0.99 1 0.9919 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197268 NA NA 0.985578 0.997087 NA 0.993 NA 3.7020886 1290 2 44123758 44123758 G A intronic LRPPRC NA NA NA intronic ENSG00000138095 NA NA NA NA NA 2p21 NA NA NA NA rs76850904 0.06 0.06 0.072 0.0858626 0.0984 0.0099 0.0476 0.1165 0.137 0.1 0.02 0.04 0.07 0.0985 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 -1.507229 NA NA 0.101047 0.107354 NA 0.08 NA 3.702053 1290 10 26534809 26534809 G T intronic GAD2 NA NA NA intronic ENSG00000136750 NA NA NA NA NA 10p12.1 NA NA NA NA rs1805398 0.15 0.15 0.156 0.150759 0.1044 0.0446 0.0908 0.3918 0.0245 0.1 0.04 0.1 0.4 0.0984 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.420141 NA NA 0.095371 0.323168 NA 0.203 NA 3.701829 1290 8 144406627 144406627 G A intronic TOP1MT NA NA NA intronic ENSG00000184428 NA NA NA NA NA 8q24.3 NA NA NA NA rs3829018 0.12 0.12 0.114 0.120008 0.0905 0.0883 0.0807 0.236 0.0542 0.08 0.1 0.1 0.21 0.0979 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.074022 NA NA 0.110233 0.190649 NA 0.13 NA 3.701367 1290 1 85560264 85560264 G A intronic WDR63 NA NA NA intronic ENSG00000162643 NA NA NA NA NA 1p22.3 NA NA NA NA rs709764 0.15 0.15 0.155 0.138978 0.1163 NA 0.121 0.3593 0.0204 0.11 NA 0.15 0.39 0.092 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.843776 NA NA 0.090349 0.315706 NA 0.225 NA 3.701351 1290 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 1290 22 37533795 37533795 G C intronic IL2RB NA NA NA intronic ENSG00000100385 NA NA NA NA NA 22q12.3 NA Name=PAX5-C20 NA NA rs228958 0.5 0.5 0.46 0.480431 0.4215 0.5655 0.438 0.4856 0.4765 0.42 0.62 0.44 0.52 0.4491 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.043921 NA NA 0.42814 0.516576 NA 0.341 NA 3.70126 1290 16 1836710 1836710 G A intronic NUBP2 NA NA NA intronic ENSG00000095906,ENSG00000162032 NA NA NA NA NA 16p13.3 NA NA NA NA rs79769512 0.12 0.12 0.092 0.154353 0.0885 0.1419 0.0735 0.1664 0.2761 0.09 0.14 0.08 0.16 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 0.055036 NA NA 0.094157 0.14628 NA NA NA 3.701243 1290 7 108142919 108142919 A G intronic PNPLA8 NA NA NA intronic ENSG00000135241 NA NA NA NA NA 7q31.1 NA NA NA NA rs11971386 0.08 0.08 0.067 0.0826677 0.0954 0.0575 0.072 0.0946 0.0869 0.09 0.07 0.07 0.09 0.1019 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 1.478887 1.478887 NA 0.101512 0.089918 NA 0.072 NA 3.701188 1290 4 95585225 95585225 A G UTR3 PDLIM5 NM_001256428:c.*7A>G,NM_001256426:c.*7A>G,NM_001256425:c.*7A>G,NM_001011513:c.*7A>G,NM_006457:c.*7A>G NA NA UTR3 ENSG00000163110 ENST00000437932:c.*7A>G,ENST00000317968:c.*7A>G,ENST00000542407:c.*7A>G,ENST00000514743:c.*7A>G NA NA NA NA 4q22.3 NA NA NA NA rs1056772 0.21 0.21 0.213 0.192891 0.2127 0.1091 0.1873 0.3071 0.1084 0.23 0.1 0.18 0.33 0.1949 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.296543 NA NA 0.224767 0.312982 NA 0.239 NA 3.7009664 1290 1 89525820 89525820 C T intronic GBP1 NA NA NA intronic ENSG00000117228 NA NA NA NA NA 1p22.2 NA NA NA NA rs61798936 0.27 0.27 0.272 0.259984 0.2992 0.122 0.2853 0.289 0.3047 0.32 0.13 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 -0.655393 NA NA NA NA NA 0.326 NA 3.7008 1290 21 46906960 46906960 A G intronic COL18A1 NA NA NA intronic ENSG00000182871 NA NA NA NA NA 21q22.3 NA NA NA NA rs3818662 0.31 0.31 0.297 0.319489 0.2992 0.2589 0.3372 0.3828 0.3047 0.28 0.28 0.33 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 -0.481155 NA NA NA NA NA 0.355 NA 3.7008 1290 22 44285428 44285428 G A intronic PNPLA5 NA NA NA intronic ENSG00000100341 NA NA NA NA NA 22q13.31 NA NA NA NA rs62226145 0.08 0.08 0.066 0.0666933 0.1034 0.0109 0.1052 0.0764 0.046 0.1 0.01 0.13 0.08 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 -0.470999 NA NA 0.102209 0.08148 NA 0.13 NA 3.700791 1290 19 2073466 2073466 T C intronic MOB3A NA NA NA intronic ENSG00000172081 NA NA NA NA NA 19p13.3 NA Name=Pol2-4H8 NA NA rs758145 0.47 0.47 0.474 0.50619 0.4334 0.4137 0.3833 0.671 0.5409 0.42 0.39 0.41 0.68 0.4414 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540043 NA NA 0.424419 0.655243 NA 0.435 NA 3.700781 1290 9 123778688 123778688 A C intronic C5 NA NA NA intronic ENSG00000106804 NA NA NA NA NA 9q33.2 NA NA NA NA rs41309850 0.07 0.07 0.063 0.0890575 0.0984 0.0367 0.0533 0.1286 0.1053 0.09 0.02 0.06 0.1 0.0948 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.439795 NA NA 0.106163 0.144122 NA 0.109 NA 3.700637 1290 3 15287199 15287199 A G intronic CAPN7 NA NA NA intronic ENSG00000131375 NA NA NA NA NA 3p25.1 NA NA NA NA rs41276507 0.05 0.05 0.045 0.0505192 0.1024 NA 0.0908 0.0076 0.0787 0.1 NA 0.11 0.01 0.0888 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 -0.420895 NA NA 0.108372 0.028597 NA 0.007 NA 3.700428 1290 6 4133766 4133766 C G intronic ECI2 NA NA NA intronic ENSG00000198721 NA NA NA NA NA 6p25.2 NA NA NA NA rs853421 0.14 0.14 0.144 0.146565 0.0895 0.0734 0.196 0.2791 0.0665 0.09 0.08 0.17 0.26 0.118 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.103234 NA NA 0.092093 0.241943 NA 0.203 NA 3.700407 1290 9 134136677 134136677 A G exonic FAM78A NA synonymous SNV FAM78A:NM_033387:exon2:c.T384C:p.D128D exonic ENSG00000126882 NA synonymous SNV ENSG00000126882:ENST00000372271:exon2:c.T384C:p.D128D,ENSG00000126882:ENST00000372269:exon4:c.T375C:p.D125D,ENSG00000126882:ENST00000464831:exon4:c.T291C:p.D97D Score=556;Name=lod=242 NA 9q34.13 NA NA NA NA rs352951 0.94 0.94 0.925 0.919728 0.996 0.9742 0.9625 0.7534 0.9796 1 0.97 0.96 0.8 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 -0.554617 NA NA 0.997326 0.804131 NA 0.899 NA 3.7001406 1290 2 241533512 241533512 T A intronic CAPN10 NA NA NA intronic ENSG00000142330 NA NA NA NA NA 2q37.3 NA NA NA NA rs17846970 0.08 0.08 0.069 0.0766773 0.1074 0.0724 0.0908 0.0144 0.1237 0.13 0.07 0.1 0.01 0.0969 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347819 NA NA 0.095705 0.027867 NA 0.065 NA 3.699995 1290 12 129566270 129566270 A C intronic TMEM132D NA NA NA intronic ENSG00000151952 NA NA NA NA NA 12q24.33 NA NA NA NA rs12578725 0.11 0.11 NA 0.105232 0.1133 0.1806 0.0807 0.0477 0.1145 0.11 0.17 0.07 0.04 0.0984 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.095748 NA NA 0.088451 0.052936 NA 0.043 NA 3.699849 1290 8 8655023 8655023 C T intronic MFHAS1 NA NA NA intronic ENSG00000147324 NA NA NA NA NA 8p23.1 NA Name=Pol2,MafK_(ab50322),GABP,ELF1_(SC-631),c-Myc,Max Name=40 NA rs3748144 0.81 0.81 0.807 0.826478 0.7386 0.9187 0.8127 0.8109 0.8528 0.74 0.92 0.78 0.8 0.8013 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 1.01972 NA NA 0.760349 0.802769 NA 0.891 NA 3.699751 1290 3 101370551 101370551 T C intronic ZBTB11 NA NA NA intronic ENSG00000066422 NA NA NA NA NA 3q12.3 NA NA NA NA rs78127229 0.08 0.08 0.058 0.0732827 0.0984 0.1339 0.0663 0.0045 0.0828 0.1 0.12 0.09 0.01 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 -0.796004 NA NA 0.106502 0.017297 NA 0.094 NA 3.699698 1290 18 54339818 54339818 C G exonic WDR7 NA synonymous SNV WDR7:NM_015285:exon2:c.C72G:p.A24A,WDR7:NM_052834:exon2:c.C72G:p.A24A exonic ENSG00000091157 NA synonymous SNV ENSG00000091157:ENST00000254442:exon2:c.C72G:p.A24A,ENSG00000091157:ENST00000357574:exon2:c.C72G:p.A24A,ENSG00000091157:ENST00000593058:exon2:c.C72G:p.A24A NA NA 18q21.31 NA NA Name=18 NA rs568078 0.91 0.91 0.901 0.90016 0.998 1 0.9654 0.6415 1 1 1 0.96 0.65 0.9728 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.571045 NA NA 0.996628 0.73468 NA 0.87 NA 3.6992386 1290 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 1290 1 89525812 89525812 C G intronic GBP1 NA NA NA intronic ENSG00000117228 NA NA NA NA NA 1p22.2 NA NA NA NA rs6701673 0.36 0.36 0.372 0.341454 0.3012 0.2014 0.3026 0.5227 0.3098 0.33 0.22 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 -0.886481 NA NA NA NA NA 0.399 NA 3.6988 1290 19 45801018 45801018 T C exonic MARK4 NA synonymous SNV MARK4:NM_001199867:exon15:c.T1683C:p.R561R,MARK4:NM_031417:exon15:c.T1683C:p.R561R exonic ENSG00000007047 NA synonymous SNV ENSG00000007047:ENST00000262891:exon15:c.T1683C:p.R561R,ENSG00000007047:ENST00000300843:exon15:c.T1683C:p.R561R Score=593;Name=lod=343 NA 19q13.32 NA NA NA NA rs173179 1 1 0.999 0.996605 0.9911 1 0.9942 1 0.9959 0.99 1 1 1 0.9904 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.955579 NA NA 0.986611 0.996163 NA 0.986 NA 3.6985556 1290 16 29811319 29811319 C T exonic KIF22 NA synonymous SNV KIF22:NM_001256270:exon8:c.C1026T:p.I342I,KIF22:NM_007317:exon8:c.C1230T:p.I410I,KIF22:NM_001256269:exon9:c.C1026T:p.I342I exonic ENSG00000079616 NA synonymous SNV ENSG00000079616:ENST00000569382:exon7:c.C1026T:p.I342I,ENSG00000079616:ENST00000160827:exon8:c.C1230T:p.I410I,ENSG00000079616:ENST00000400751:exon8:c.C1026T:p.I342I,ENSG00000079616:ENST00000561482:exon8:c.C1026T:p.I342I NA NA 16p11.2 NA NA NA NA rs235648 0.92 0.92 0.916 NA NA NA NA NA NA 1 0.95 0.98 0.72 0.9696 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.913685 NA NA 0.998721 0.733728 NA 0.906 NA 3.6983456 1290 15 42483779 42483779 C T intronic VPS39 NA NA NA intronic ENSG00000166887 NA NA NA NA NA 15q15.1 NA NA NA NA rs660033 0.15 0.15 0.129 0.183706 0.0855 0.0843 0.1873 0.2927 0.2372 0.08 0.09 0.19 0.29 0.1342 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.190069 NA NA 0.082112 0.256358 NA 0.109 NA 3.698188 1290 19 15061216 15061216 G A intronic SLC1A6 NA NA NA intronic ENSG00000105143 NA NA NA NA NA 19p13.12 NA NA NA NA rs12461006 0.15 0.15 0.136 0.14976 0.1123 0.1349 0.1167 0.289 0.0389 0.11 0.11 0.12 0.27 0.1065 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331072 NA NA 0.08314 0.261008 NA 0.138 NA 3.69806 1290 16 56924160 56924160 C T intronic SLC12A3 NA NA NA intronic ENSG00000070915 NA NA NA NA NA 16q13 NA NA NA NA rs3764264 0.14 0.14 0.12 0.137979 0.0875 0.2222 0.2003 0.0567 0.1687 0.09 0.24 0.18 0.06 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 1.584803 1.584803 NA 0.095581 0.070746 NA 0.065 NA 3.697919 1290 10 104851301 104851301 G T intronic NT5C2 NA NA NA intronic ENSG00000076685 NA NA NA NA NA 10q24.32 NA NA NA NA rs17094683 0.14 0.14 0.129 0.15655 0.0885 0.2887 0.1945 0.0408 0.2198 0.09 0.28 0.15 0.04 0.1268 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.376703 1.376703 NA 0.087209 0.057221 NA 0.043 NA 3.697491 1290 14 20854734 20854734 A G exonic TEP1 NA synonymous SNV TEP1:NM_007110:exon19:c.T2733C:p.H911H exonic ENSG00000129566 NA synonymous SNV ENSG00000129566:ENST00000555008:exon7:c.T783C:p.H261H,ENSG00000129566:ENST00000556935:exon17:c.T2409C:p.H803H,ENSG00000129566:ENST00000262715:exon19:c.T2733C:p.H911H,ENSG00000129566:ENST00000555727:exon19:c.T2733C:p.H911H NA NA 14q11.2 Score=750;Name=V$STAT3_01 NA NA NA rs945011 1 1 0.992 0.995807 0.9881 1 0.9928 0.9992 0.9969 0.99 1 0.99 1 0.9918 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827864 NA NA 0.989302 0.99773 NA 0.971 NA 3.6974646 1290 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 1290 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 1290 7 147600604 147600604 C A ncRNA_intronic MIR548F3 NA NA NA intronic ENSG00000174469 NA NA NA NA NA 7q35 NA NA NA NA rs2538962 0.63 0.63 0.634 0.624601 0.6362 0.6399 0.6527 0.6157 0.589 0.63 0.63 0.68 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 -0.214658 NA NA NA NA NA 0.696 NA 3.6971333 1290 11 60073597 60073597 C T exonic MS4A4A NA synonymous SNV MS4A4A:NM_001243266:exon5:c.C412T:p.L138L,MS4A4A:NM_148975:exon6:c.C571T:p.L191L,MS4A4A:NM_024021:exon7:c.C514T:p.L172L exonic ENSG00000110079 NA synonymous SNV ENSG00000110079:ENST00000532114:exon5:c.C412T:p.L138L,ENSG00000110079:ENST00000337908:exon6:c.C571T:p.L191L,ENSG00000110079:ENST00000395016:exon6:c.C514T:p.L172L,ENSG00000110079:ENST00000355131:exon7:c.C514T:p.L172L NA NA 11q12.2 NA NA Name=31 NA rs4644658 0.93 0.93 0.939 0.926318 0.999 0.8403 0.9899 0.8858 0.9499 1 0.84 0.99 0.9 0.9713 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.395992 NA NA 0.999419 0.884249 NA 0.906 NA 3.6969476 1290 3 137850003 137850003 A G exonic A4GNT NA synonymous SNV A4GNT:NM_016161:exon2:c.T96C:p.C32C exonic ENSG00000118017 NA synonymous SNV ENSG00000118017:ENST00000236709:exon2:c.T96C:p.C32C NA NA 3q22.3 NA NA NA NA rs2724691 0.63 0.63 0.583 0.614018 0.662 0.5476 0.719 0.5946 0.5849 0.66 0.56 0.7 0.64 0.6387 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 -0.957003 NA NA 0.66907 0.600999 NA 0.645 NA 3.6968966 1290 8 145737636 145737636 A G exonic RECQL4 NA synonymous SNV RECQL4:NM_004260:exon19:c.T3127C:p.L1043L exonic ENSG00000160957 NA synonymous SNV ENSG00000160957:ENST00000428558:exon19:c.T3127C:p.L1043L Score=378;Name=lod=46 NA 8q24.3 NA NA NA NA rs4925828 0.93 0.93 0.926 0.946086 0.998 0.7966 0.928 0.9924 0.9969 1 0.79 0.94 0.99 0.9728 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.614577 NA NA 0.999049 0.997096 NA 0.935 NA 3.6968176 1290 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 1290 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 1290 15 22332751 22332751 T C ncRNA_exonic LOC727924 NA NA NA ncRNA_exonic ENSG00000259176 NA NA NA NA NA 15q11.2 NA NA NA NA rs930109 NA NA 0.895 0.865615 0.9702 0.8105 0.9337 0.7088 0.9785 NA NA NA NA 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 1.639366 1.639366 NA NA NA NA 0.761 NA 3.6964666 1290 18 56202418 56202418 T C exonic ALPK2 NA synonymous SNV ALPK2:NM_052947:exon5:c.A5001G:p.K1667K exonic ENSG00000198796 NA synonymous SNV ENSG00000198796:ENST00000361673:exon5:c.A5001G:p.K1667K NA NA 18q21.32 NA Name=YY1_(C-20),YY1,Pol2-4H8,NFKB NA NA rs10469212 0.94 0.94 0.927 0.930511 0.996 1 0.9611 0.764 0.9949 1 1 0.97 0.75 0.9777 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.075299 NA NA 0.996512 0.803904 NA 0.92 NA 3.6964546 1290 12 57995089 57995089 T C exonic PIP4K2C NA synonymous SNV PIP4K2C:NM_001146260:exon8:c.T999C:p.A333A,PIP4K2C:NM_001146258:exon9:c.T1143C:p.A381A,PIP4K2C:NM_001146259:exon9:c.T1089C:p.A363A,PIP4K2C:NM_024779:exon9:c.T1143C:p.A381A exonic ENSG00000166908 NA synonymous SNV ENSG00000166908:ENST00000422156:exon8:c.T999C:p.A333A,ENSG00000166908:ENST00000354947:exon9:c.T1143C:p.A381A,ENSG00000166908:ENST00000540759:exon9:c.T1143C:p.A381A,ENSG00000166908:ENST00000550465:exon9:c.T1089C:p.A363A Score=656;Name=lod=617 NA 12q13.3 NA NA NA NA rs812873 0.93 0.93 0.906 0.910144 0.999 1 0.9726 0.6755 0.999 1 1 0.97 0.7 0.9731 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.748879 NA NA 0.998256 0.726509 NA 0.906 NA 3.6963106 1290 14 55643752 55643752 A G intronic DLGAP5 NA NA NA intronic ENSG00000126787 NA NA NA NA NA 14q22.3 NA NA NA NA rs8009244 0.33 0.33 NA 0.376398 0.1103 0.2411 0.2089 0.8858 0.2198 0.09 0.26 0.25 0.85 0.1936 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 0.450477 NA NA NA NA NA 0.304 NA 3.6961 1290 X 34962909 34962909 A C UTR3 FAM47B NM_152631:c.*23A>C NA NA UTR3 ENSG00000189132 ENST00000329357:c.*23A>C NA NA NA NA Xp21.1 NA NA NA NA rs6632131 0.45 0.45 0.43879 NA NA NA NA NA NA 0.26 0.73 0.43 0.42 0.3592 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 -0.450947 NA NA 0.278125 0.354216 NA 0.254 NA 3.6960084 1290 17 72233419 72233419 C T intronic TTYH2 NA NA NA intronic ENSG00000141540 NA NA NA NA NA 17q25.1 NA NA NA NA rs74718342 0.06 0.06 0.061 0.071885 0.1064 0.0129 0.0562 0.0386 0.1534 0.12 0.01 0.05 0.02 0.0927 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 -0.221402 NA NA 0.105 0.039038 NA 0.043 NA 3.6959 1290 21 46900546 46900546 C T intronic COL18A1 NA NA NA intronic ENSG00000182871 NA NA NA NA NA 21q22.3 NA NA NA NA rs28608951 0.32 0.32 0.3 0.326677 0.3042 0.254 0.3271 0.388 0.3415 0.29 0.28 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 -0.619961 NA NA NA NA NA 0.399 NA 3.6958 1290 6 88321997 88321997 G A intronic ORC3 NA NA NA intronic ENSG00000135336 NA NA NA NA NA 6q15 NA NA NA NA rs7752473 0.13 0.13 0.116 0.121006 0.0994 0.1458 0.1354 0.1271 0.0992 0.1 0.14 0.14 0.14 0.1133 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473623 NA NA 0.091628 0.142598 NA 0.152 NA 3.695672 1290 8 145745182 145745182 T C exonic LRRC14 NA synonymous SNV LRRC14:NM_014665:exon2:c.T73C:p.L25L,LRRC14:NM_001272036:exon3:c.T73C:p.L25L exonic ENSG00000160959 NA synonymous SNV ENSG00000160959:ENST00000292524:exon2:c.T73C:p.L25L,ENSG00000160959:ENST00000525766:exon2:c.T73C:p.L25L,ENSG00000160959:ENST00000527730:exon2:c.T73C:p.L25L,ENSG00000160959:ENST00000530854:exon2:c.T73C:p.L25L,ENSG00000160959:ENST00000529022:exon3:c.T73C:p.L25L Score=376;Name=lod=45 NA 8q24.3 NA NA NA NA rs2721172 0.93 0.93 0.935 0.947684 0.998 0.8036 0.9251 0.9955 0.9959 1 0.8 0.93 0.99 0.974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.631678 NA NA 0.99907 0.998865 NA 0.819 NA 3.6955966 1290 7 48046714 48046714 G A intronic SUN3 NA NA NA intronic ENSG00000164744 NA NA NA NA NA 7p12.3 NA NA Name=4 NA rs1574242 0.44 0.44 0.436 0.465655 0.4473 0.2877 0.3833 0.6687 0.4519 0.43 0.32 0.39 0.63 0.4259 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178471 NA NA 0.431395 0.606446 NA 0.377 NA 3.695405 1291 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 1291 22 50512617 50512617 C T intronic MLC1 NA NA NA intronic ENSG00000100427 NA NA NA NA NA 22q13.33 NA NA Name=5 NA rs2038048 0.31 0.31 0.293 0.28774 0.4165 0.1905 0.4467 0.1558 0.3211 0.43 0.23 0.4 0.17 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 -0.203061 NA NA 0.463687 0.212761 NA 0.326 NA 3.694913 1291 3 140282861 140282861 C T exonic CLSTN2 NA synonymous SNV CLSTN2:NM_022131:exon16:c.C2541T:p.V847V exonic ENSG00000158258 NA synonymous SNV ENSG00000158258:ENST00000458420:exon16:c.C2541T:p.V847V NA NA 3q23 NA NA NA NA rs10804675 0.39 0.39 0.393 0.373403 0.6769 0.1032 0.5101 0.1982 0.4796 0.67 0.09 0.52 0.19 0.5843 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.176426 NA NA 0.711047 0.277122 NA 0.435 NA 3.6944196 1291 7 127721507 127721507 T C exonic SND1 NA synonymous SNV SND1:NM_014390:exon18:c.T2064C:p.T688T exonic ENSG00000197157 NA synonymous SNV ENSG00000197157:ENST00000486037:exon5:c.T522C:p.T174T,ENSG00000197157:ENST00000354725:exon18:c.T2064C:p.T688T NA NA 7q32.1 NA NA NA NA rs322825 0.65 0.65 0.653 0.672524 0.663 0.3294 0.7089 0.9622 0.6186 0.65 0.36 0.69 0.96 0.6422 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 0.611855 NA NA 0.667326 0.913527 NA 0.746 NA 3.6941406 1291 1 67861520 67861520 C A exonic IL12RB2 NA synonymous SNV IL12RB2:NM_001258215:exon14:c.C2079A:p.P693P,IL12RB2:NM_001559:exon16:c.C2337A:p.P779P exonic ENSG00000081985 NA synonymous SNV ENSG00000081985:ENST00000544434:exon14:c.C2079A:p.P693P,ENSG00000081985:ENST00000262345:exon16:c.C2337A:p.P779P NA NA 1p31.3 NA NA NA NA rs2229546 0.55 0.55 0.557 0.555112 0.675 0.3829 0.5879 0.5106 0.6462 0.68 0.38 0.58 0.54 0.6307 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07015 NA NA 0.667093 0.507263 NA 0.587 NA 3.6938736 1291 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 1291 1 153743234 153743234 T C intronic INTS3 NA NA NA intronic ENSG00000143624 NA NA NA NA NA 1q21.3 NA NA Name=26 NA rs6675978 0.45 0.45 0.416 0.442292 0.4264 0.7004 0.3573 0.2995 0.4458 0.42 0.71 0.35 0.29 0.4467 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.324282 NA NA 0.43314 0.314798 NA 0.42 NA 3.69376 1291 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 1291 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 1291 3 129281866 129281866 G C intronic PLXND1 NA NA NA intronic ENSG00000004399 NA NA NA NA NA 3q22.1 NA NA NA NA rs2713626 0.2 0.2 0.201 0.196286 0.3072 0.003 0.1945 0.2867 0.1605 0.3 0.0017 0.24 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 -0.898996 NA NA NA NA NA 0.355 NA 3.6928 1291 19 55278630 55278630 G C intergenic KIR2DL3,KIR2DL1 dist=14126;dist=2635 NA NA ncRNA_intronic ENSG00000215765,ENSG00000242473 NA NA NA NA NA 19q13.42 NA NA NA NA rs2915996 0.15 0.15 0.141 0.146166 0.3072 0.128 0.1354 0.0408 0.1493 0.25 0.11 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 -0.529905 NA NA NA NA NA NA NA 3.6928 1291 8 68995468 68995468 C T intronic PREX2 NA NA NA ncRNA_intronic ENSG00000255206 NA NA NA NA NA 8q13.2 Score=679;Name=V$BRACH_01 NA NA NA rs1030752 0.52 0.52 0.498 0.522165 0.5716 0.4732 0.4539 0.5219 0.5706 0.58 0.47 0.48 0.53 0.5254 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.574504 NA NA 0.543721 0.536331 NA 0.471 NA 3.6926123 1291 16 81150938 81150938 G C intronic PKD1L2 NA NA NA intronic ENSG00000166473 NA NA NA NA NA 16q23.2 NA NA NA NA rs6564824 0.19 0.19 0.197 0.217053 0.0835 0.2917 0.1628 0.2352 0.2914 0.08 0.31 0.14 0.24 0.141 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303996 NA NA 0.082892 0.2231 NA 0.116 NA 3.692608 1291 1 32193647 32193647 T C exonic BAI2 NA synonymous SNV BAI2:NM_001703:exon32:c.A4551G:p.A1517A exonic ENSG00000121753 NA synonymous SNV ENSG00000121753:ENST00000398556:exon28:c.A4296G:p.A1432A,ENSG00000121753:ENST00000527361:exon29:c.A4449G:p.A1483A,ENSG00000121753:ENST00000257070:exon31:c.A4449G:p.A1483A,ENSG00000121753:ENST00000373655:exon32:c.A4548G:p.A1516A,ENSG00000121753:ENST00000373658:exon32:c.A4551G:p.A1517A NA NA 1p35.2 NA NA NA NA rs1127100 0.58 0.58 0.614 0.604034 0.6531 0.3492 0.5159 0.8321 0.5706 0.65 0.29 0.56 0.83 0.6758 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 2.155943 2.155943 NA 0.645361 0.794977 NA 0.638 NA 3.6924056 1291 5 75960865 75960865 T C exonic IQGAP2 NA synonymous SNV IQGAP2:NM_006633:exon22:c.T2544C:p.H848H exonic ENSG00000145703 NA synonymous SNV ENSG00000145703:ENST00000396234:exon10:c.T1032C:p.H344H,ENSG00000145703:ENST00000502745:exon10:c.T1032C:p.H344H,ENSG00000145703:ENST00000514001:exon11:c.T1203C:p.H401H,ENSG00000145703:ENST00000379730:exon21:c.T1050C:p.H350H,ENSG00000145703:ENST00000505766:exon21:c.T2394C:p.H798H,ENSG00000145703:ENST00000274364:exon22:c.T2544C:p.H848H,ENSG00000145703:ENST00000514350:exon22:c.T2463C:p.H821H Score=538;Name=lod=204 NA 5q13.3 NA NA NA NA rs253093 0.97 0.97 0.968 0.963259 0.994 0.9236 0.9625 0.9531 0.9867 0.99 0.92 0.98 0.97 0.9842 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.769203 NA NA 0.996163 0.962324 NA 0.913 NA 3.6923036 1291 14 81574959 81574959 A G exonic TSHR NA synonymous SNV TSHR:NM_001018036:exon9:c.A696G:p.L232L,TSHR:NM_001142626:exon9:c.A759G:p.L253L exonic ENSG00000165409 NA synonymous SNV ENSG00000165409:ENST00000342443:exon9:c.A696G:p.L232L,ENSG00000165409:ENST00000554435:exon9:c.A759G:p.L253L NA NA 14q31.1 NA NA NA NA rs3783942 0.58 0.58 0.548 0.611222 0.671 0.3889 0.6268 0.6369 0.7331 0.68 0.39 0.63 0.61 0.6468 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.242676 NA NA 0.656628 0.618702 NA 0.623 NA 3.6922386 1291 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 1291 3 123418913 123418913 G A exonic MYLK NA synonymous SNV MYLK:NM_053026:exon17:c.C3195T:p.N1065N,MYLK:NM_053028:exon17:c.C3195T:p.N1065N,MYLK:NM_053025:exon18:c.C3402T:p.N1134N,MYLK:NM_053027:exon18:c.C3402T:p.N1134N exonic ENSG00000065534 NA synonymous SNV ENSG00000065534:ENST00000475616:exon15:c.C3402T:p.N1134N,ENSG00000065534:ENST00000346322:exon17:c.C3195T:p.N1065N,ENSG00000065534:ENST00000359169:exon18:c.C3402T:p.N1134N,ENSG00000065534:ENST00000360304:exon18:c.C3402T:p.N1134N,ENSG00000065534:ENST00000360772:exon19:c.C3402T:p.N1134N Score=581;Name=lod=305 NA 3q21.1 NA NA NA NA rs865358 0.95 0.95 0.94 0.947883 0.996 1 0.9769 0.8177 1 1 1 0.98 0.8 0.9824 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.640808 NA NA 0.996395 0.834771 NA 0.942 NA 3.6918716 1291 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 1291 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 1291 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 1291 14 68264867 68264867 A G exonic ZFYVE26 NA synonymous SNV ZFYVE26:NM_015346:exon11:c.T2112C:p.P704P exonic ENSG00000072121 NA synonymous SNV ENSG00000072121:ENST00000347230:exon11:c.T2112C:p.P704P,ENSG00000072121:ENST00000555452:exon11:c.T2112C:p.P704P NA NA 14q24.1 NA NA NA NA rs12891164 0.76 0.76 0.746 0.771166 0.6223 0.9722 0.7695 0.7186 0.7894 0.62 0.97 0.75 0.72 0.7112 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 -1.332697 NA NA 0.641512 0.682478 NA 0.768 NA 3.6916546 1291 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 1291 X 1419571 1419571 C G intronic CSF2RA NA NA NA intronic ENSG00000198223 NA NA NA NA NA Xp22.33 NA Name=TBP,NANOG_(SC-33759),USF-1 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 1291 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 1291 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 1291 5 150174959 150174959 G A intronic SMIM3 NA NA NA intronic ENSG00000256235,ENSG00000269636 NA NA NA NA NA 5q33.1 NA NA NA NA rs73282209 0.19 0.19 0.182 0.181709 0.1034 0.4266 0.1225 0.1301 0.1217 0.09 0.41 0.13 0.12 0.1211 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425287 NA NA 0.084687 0.102646 NA 0.152 NA 3.690813 1291 1 109839433 109839433 A G exonic MYBPHL NA synonymous SNV MYBPHL:NM_001010985:exon5:c.T702C:p.T234T,MYBPHL:NM_001265613:exon5:c.T633C:p.T211T exonic ENSG00000221986 NA synonymous SNV ENSG00000221986:ENST00000357155:exon5:c.T702C:p.T234T NA NA 1p13.3 Score=844;Name=V$GATA1_02 NA NA NA rs1278285 0.95 0.95 0.945 0.925319 1 1 0.9697 0.733 1 1 1 0.97 0.78 0.978 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172167 NA NA 0.998605 0.778938 NA 0.957 NA 3.6900616 1291 8 51571172 51571172 G A exonic SNTG1 NA synonymous SNV SNTG1:NM_018967:exon15:c.G987A:p.T329T exonic ENSG00000147481 NA synonymous SNV ENSG00000147481:ENST00000276467:exon13:c.G987A:p.T329T,ENSG00000147481:ENST00000517473:exon14:c.G987A:p.T329T,ENSG00000147481:ENST00000520825:exon14:c.G987A:p.T329T,ENSG00000147481:ENST00000522124:exon15:c.G987A:p.T329T,ENSG00000147481:ENST00000518864:exon16:c.G987A:p.T329T NA NA 8q11.21 NA NA NA NA rs1911830 0.58 0.58 0.547 0.506989 0.6909 0.6786 0.6153 0.2262 0.4438 0.69 0.68 0.65 0.25 0.6076 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 0.397804 NA NA 0.678256 0.307081 NA 0.399 NA 3.6899106 1291 14 88654235 88654235 A G intronic KCNK10 NA NA NA intronic ENSG00000100433 NA NA NA NA NA 14q31.3 NA NA NA NA rs424752 0.31 0.31 0.302 0.294928 0.3101 0.5149 0.1686 0.1528 0.3344 0.31 0.52 0.17 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 0.744464 NA NA NA NA ID=COSN164756;OCCURENCE=1(breast) 0.304 NA 3.6899 1291 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 1291 2 37306343 37306343 G A exonic HEATR5B NA synonymous SNV HEATR5B:NM_019024:exon3:c.C258T:p.F86F exonic ENSG00000008869 NA synonymous SNV ENSG00000008869:ENST00000233099:exon3:c.C258T:p.F86F,ENSG00000008869:ENST00000354531:exon3:c.C258T:p.F86F Score=617;Name=lod=428 NA 2p22.2 NA NA NA NA rs6743906 0.94 0.94 0.923 0.929313 0.999 1 0.9697 0.7489 1 1 1 0.98 0.75 0.9795 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045955 NA NA 0.99872 0.77692 NA 0.949 NA 3.6894466 1291 10 90674251 90674251 A C intronic STAMBPL1 NA NA NA intronic ENSG00000138134 NA NA NA NA NA 10q23.31 NA NA NA NA rs11202889 0.15 0.15 0.129 0.193291 0.0905 0.255 0.2003 0.0817 0.3814 0.09 0.28 0.18 0.1 0.1387 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63327 NA NA 0.082093 0.078529 NA 0.181 NA 3.688707 1291 10 11797436 11797436 T C exonic ECHDC3 NA synonymous SNV ECHDC3:NM_024693:exon4:c.T420C:p.V140V exonic ENSG00000134463 NA synonymous SNV ENSG00000134463:ENST00000422887:exon3:c.T201C:p.V67V,ENSG00000134463:ENST00000379215:exon4:c.T420C:p.V140V,ENSG00000134463:ENST00000420401:exon4:c.T579C:p.V193V Score=340;Name=lod=32 NA 10p14 NA NA NA NA rs7899215 0.95 0.95 0.932 0.93131 0.998 1 0.9813 0.7519 0.999 1 1 0.98 0.78 0.9813 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129259 NA NA 0.998953 0.814117 NA 0.928 NA 3.6884136 1291 8 26510792 26510792 T C exonic DPYSL2 NA synonymous SNV DPYSL2:NM_001197293:exon13:c.T1821C:p.P607P,DPYSL2:NM_001244604:exon13:c.T1398C:p.P466P,DPYSL2:NM_001386:exon13:c.T1506C:p.P502P exonic ENSG00000092964 NA synonymous SNV ENSG00000092964:ENST00000311151:exon13:c.T1506C:p.P502P,ENSG00000092964:ENST00000521913:exon13:c.T1398C:p.P466P,ENSG00000092964:ENST00000523027:exon13:c.T1398C:p.P466P NA NA 8p21.2 NA NA NA NA rs708621 0.6 0.6 0.587 0.592252 0.673 0.4018 0.4597 0.7837 0.5409 0.68 0.4 0.51 0.76 0.6278 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 0.88472 NA NA 0.677907 0.773718 NA 0.543 NA 3.6879596 1291 1 43305753 43305753 G A intronic ERMAP NA NA NA ncRNA_intronic ENSG00000241784,ENSG00000243153 NA NA NA NA NA 1p34.2 NA NA NA NA rs12034000 0.23 0.23 0.239 0.260383 0.2028 0.3393 0.1643 0.2579 0.3098 0.19 0.3 0.17 0.24 0.237 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.937089 NA NA 0.205581 0.266228 NA 0.246 NA 3.6879523 1291 2 142012036 142012036 T G intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA NA NA 2q22.1 NA NA NA NA rs9973397 0.35 0.35 0.333 0.309305 0.3121 0.5655 0.4726 0.0711 0.2485 0.32 0.58 0.43 0.08 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 1.332151 1.332151 NA NA NA NA 0.254 NA 3.6879 1291 12 57578288 57578288 C T intronic LRP1 NA NA NA intronic ENSG00000123384 NA NA NA NA NA 12q13.3 NA NA NA NA rs1800181 0.4 0.4 0.388 0.388578 0.3121 0.4395 0.4481 0.5083 0.2106 0.32 0.41 0.41 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 0.118964 NA NA NA NA NA 0.319 NA 3.6879 1291 3 52848207 52848207 C T intronic ITIH4 NA NA NA intronic ENSG00000055955,ENSG00000243696 NA NA NA NA NA 3p21.1 NA NA NA NA rs77347777 0.09 0.09 0.1 0.0800719 0.1024 0.0159 0.0519 0.1483 0.0511 0.12 0.02 0.06 0.14 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 -1.258346 NA NA 0.113605 0.157059 NA 0.116 NA 3.687895 1291 2 189948651 189948651 G T intronic COL5A2 NA NA NA intronic ENSG00000204262 NA NA NA NA NA 2q32.2 NA NA NA NA rs55963648 0.13 0.13 0.128 0.140176 0.167 0.1062 0.1326 0.1203 0.18 0.15 0.11 0.13 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 -0.950263 NA NA 0.145506 0.139451 NA 0.123 NA 3.687494 1291 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 1291 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 1291 11 60891421 60891421 C T intronic CD5 NA NA NA intronic ENSG00000110448 NA NA NA NA NA 11q12.2 NA NA NA NA rs12364279 0.08 0.08 0.073 0.100839 0.1014 0.003 0.1138 0.1679 0.1012 0.09 0.0017 0.12 0.13 0.1002 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152475 NA NA 0.111421 0.140036 NA 0.167 NA 3.686979 1291 5 122012270 122012270 C T intergenic MGC32805,SNX2 dist=197488;dist=98480 NA NA ncRNA_exonic ENSG00000240058 NA NA NA NA NA 5q23.2 NA NA NA NA rs17132683 0.49 0.49 0.467 0.522963 0.3131 0.8006 0.4395 0.4334 0.6329 0.31 0.82 0.38 0.45 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 -0.345504 NA NA NA NA NA 0.514 NA 3.6869 1291 11 57155288 57155288 T C exonic PRG2 NA synonymous SNV PRG2:NM_001243245:exon5:c.A516G:p.A172A,PRG2:NM_002728:exon5:c.A549G:p.A183A exonic ENSG00000186652 NA synonymous SNV ENSG00000186652:ENST00000311862:exon5:c.A549G:p.A183A,ENSG00000186652:ENST00000525955:exon5:c.A549G:p.A183A,ENSG00000186652:ENST00000533605:exon5:c.A516G:p.A172A NA NA 11q12.1 Score=861;Name=V$OCT1_07 NA NA NA rs630396 0.95 0.95 0.953 0.941094 0.999 0.996 0.9784 0.7973 0.9928 1 1 0.98 0.82 0.9823 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.617347 NA NA 0.9986 0.839627 NA 0.848 NA 3.6867666 1291 3 148930218 148930218 G A intronic CP NA NA NA intronic ENSG00000047457 NA NA NA NA NA 3q25.1 NA NA NA NA rs17847023 0.15 0.15 0.132 0.139377 0.0984 0.3373 0.1455 0.0076 0.1513 0.1 0.33 0.13 0.02 0.1275 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.814116 2.814116 NA 0.087791 0.020654 NA 0.116 NA 3.686309 1291 7 95024046 95024046 A G intronic PON3 NA NA NA exonic ENSG00000105852 NA nonsynonymous SNV ENSG00000105852:ENST00000418617:exon2:c.T77C:p.V26A,ENSG00000105852:ENST00000442770:exon2:c.T77C:p.V26A NA NA 7q21.3 NA NA NA NA rs11970910 0.6 0.6 0.588 0.620807 0.4901 0.7589 0.634 0.5756 0.6646 0.48 0.76 0.61 0.61 0.5439 0.76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.495151 NA NA 0.446395 0.514753 ID=COSN168149;OCCURENCE=1(large_intestine),2(endometrium) 0.565 NA 3.6862717 1291 16 4815608 4815608 A G exonic ZNF500 NA synonymous SNV ZNF500:NM_021646:exon2:c.T372C:p.L124L exonic ENSG00000103199 NA synonymous SNV ENSG00000103199:ENST00000589422:exon1:c.T372C:p.L124L,ENSG00000103199:ENST00000219478:exon2:c.T372C:p.L124L,ENSG00000103199:ENST00000545009:exon2:c.T372C:p.L124L Score=527;Name=lod=185 NA 16p13.3 NA NA NA NA rs4786549 0.94 0.94 0.926 0.934505 1 0.999 0.9726 0.767 1 1 1 0.98 0.76 0.9818 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.39031 1.39031 NA 0.998605 0.820437 NA 0.891 NA 3.6862616 1291 5 16478120 16478120 A G intronic FAM134B NA NA NA intronic ENSG00000154153 NA NA NA NA NA 5p15.1 Score=791;Name=V$CDPCR3_01 NA NA NA rs162849 0.36 0.36 0.373 0.335463 0.4642 0.2302 0.3098 0.3949 0.2495 0.45 0.22 0.37 0.38 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 1.651864 1.651864 NA 0.438096 0.42101 NA 0.464 NA 3.686104 1291 2 209204319 209204319 A G intronic PIKFYVE NA NA NA intronic ENSG00000115020 NA NA NA NA NA 2q34 NA NA NA NA rs17699838 0.07 0.07 0.061 0.0716853 0.1004 0.0089 0.0937 0.087 0.0706 0.1 0.0035 0.09 0.08 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 -0.513067 NA NA 0.113837 0.091012 NA 0.058 NA 3.685763 1291 9 74975136 74975136 T C exonic ZFAND5 NA synonymous SNV ZFAND5:NM_001102421:exon3:c.A153G:p.G51G,ZFAND5:NM_006007:exon3:c.A153G:p.G51G,ZFAND5:NM_001102420:exon4:c.A153G:p.G51G exonic ENSG00000107372 NA synonymous SNV ENSG00000107372:ENST00000237937:exon3:c.A153G:p.G51G,ENSG00000107372:ENST00000376956:exon3:c.A309G:p.G103G,ENSG00000107372:ENST00000376960:exon3:c.A153G:p.G51G,ENSG00000107372:ENST00000343431:exon4:c.A153G:p.G51G,ENSG00000107372:ENST00000376962:exon4:c.A153G:p.G51G Score=610;Name=lod=403 NA 9q21.13 NA NA NA NA rs2809270 0.95 0.95 0.937 0.940895 0.999 0.999 0.9885 0.7859 0.9969 1 1 0.99 0.8 0.9823 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.975433 NA NA 0.999651 0.822969 NA 0.949 NA 3.6857156 1291 12 86270500 86270500 A G intronic NTS NA NA NA intronic ENSG00000133636 NA NA NA NA NA 12q21.31 NA NA NA NA rs55644633 0.05 0.05 0.066 0.0447284 0.1243 NA 0.072 0.0061 0.0419 0.12 NA 0.06 0.01 0.0831 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 -0.407186 NA NA 0.106908 0.019336 NA 0.116 NA 3.685692 1291 3 58484521 58484521 T C intronic KCTD6 NA NA NA intronic ENSG00000168301 NA NA NA NA NA 3p14.3 NA NA NA NA rs9853873 0.13 0.13 0.126 0.133786 0.0924 0.2183 0.111 0.1195 0.1247 0.09 0.2 0.12 0.13 0.1214 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358537 NA NA 0.100814 0.131412 NA 0.087 NA 3.685386 1292 8 145160646 145160646 T C exonic MAF1 NA synonymous SNV MAF1:NM_032272:exon2:c.T60C:p.T20T exonic ENSG00000179632 NA synonymous SNV ENSG00000179632:ENST00000322428:exon2:c.T60C:p.T20T,ENSG00000179632:ENST00000527058:exon2:c.T60C:p.T20T,ENSG00000179632:ENST00000527572:exon2:c.T60C:p.T20T,ENSG00000179632:ENST00000532522:exon2:c.T60C:p.T20T,ENSG00000179632:ENST00000534585:exon2:c.T60C:p.T20T Score=515;Name=lod=165 NA 8q24.3 NA NA NA NA rs11136256 0.96 0.96 0.965 0.953275 0.998 1 0.9899 0.8298 1 1 1 0.99 0.85 0.9849 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042793 NA NA 0.998837 0.850431 NA 0.978 NA 3.6849296 1292 21 19647472 19647472 G A intronic TMPRSS15 NA NA NA intronic ENSG00000154646 NA NA NA NA NA 21q21.1 NA NA NA NA rs2824713 0.11 0.11 0.12 0.116613 0.1074 0.0446 0.0677 0.2231 0.091 0.1 0.04 0.08 0.22 0.1014 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059061 NA NA 0.106279 0.188379 NA 0.13 NA 3.684921 1292 5 56543078 56543078 A C intronic GPBP1 NA NA NA intronic ENSG00000062194 NA NA NA NA NA 5q11.2 NA NA NA NA rs79762564 0.08 0.08 0.085 0.0930511 0.1044 0.0129 0.0562 0.1377 0.1299 0.1 0.02 0.07 0.12 0.1098 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.839633 NA NA 0.101001 0.127896 NA 0.051 NA 3.684799 1292 11 7063755 7063755 C T exonic NLRP14 NA synonymous SNV NLRP14:NM_176822:exon4:c.C498T:p.F166F exonic ENSG00000158077 NA synonymous SNV ENSG00000158077:ENST00000299481:exon4:c.C498T:p.F166F Score=346;Name=lod=34 NA 11p15.4 NA NA NA NA rs7123944 0.96 0.96 0.95 0.959265 0.998 1 0.9885 0.8533 1 1 1 0.99 0.85 0.9864 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092923 NA NA 0.997672 0.871876 NA 0.971 NA 3.6845946 1292 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 1292 7 112130009 112130009 A C UTR3 LSMEM1 NM_001134468:c.*5A>C,NM_182597:c.*5A>C NA NA UTR3 ENSG00000181016 ENST00000439068:c.*5A>C,ENST00000455302:c.*309A>C,ENST00000312849:c.*5A>C NA NA NA NA 7q31.1 NA Name=PU.1 NA NA rs11767398 0.35 0.35 0.336 0.303514 0.6014 0.1617 0.3487 0.1808 0.2771 0.6 0.12 0.4 0.2 0.465 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487845 NA NA 0.582442 0.252383 NA 0.225 NA 3.6844914 1292 10 135180430 135180430 A G exonic ECHS1 NA synonymous SNV ECHS1:NM_004092:exon5:c.T582C:p.T194T exonic ENSG00000127884 NA synonymous SNV ENSG00000127884:ENST00000368547:exon5:c.T582C:p.T194T NA NA 10q26.3 Score=791;Name=V$PAX2_01 NA NA NA rs2230261 0.95 0.95 0.959 0.947883 0.999 1 0.9741 0.8169 1 1 1 0.96 0.81 0.9841 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.063743 NA NA 0.999186 0.830005 NA 0.928 NA 3.6843806 1292 5 132098242 132098242 A G exonic SEPT8 NA synonymous SNV SEPT8:NM_001098811:exon5:c.T630C:p.N210N,SEPT8:NM_001098812:exon5:c.T630C:p.N210N,SEPT8:NM_001098813:exon5:c.T450C:p.N150N,SEPT8:NM_015146:exon5:c.T630C:p.N210N exonic ENSG00000164402 NA synonymous SNV ENSG00000164402:ENST00000296873:exon5:c.T630C:p.N210N,ENSG00000164402:ENST00000378701:exon5:c.T624C:p.N208N,ENSG00000164402:ENST00000378706:exon5:c.T630C:p.N210N,ENSG00000164402:ENST00000378719:exon5:c.T630C:p.N210N,ENSG00000164402:ENST00000378721:exon5:c.T624C:p.N208N,ENSG00000164402:ENST00000448933:exon5:c.T450C:p.N150N,ENSG00000164402:ENST00000458488:exon5:c.T630C:p.N210N,ENSG00000164402:ENST00000378699:exon6:c.T450C:p.N150N Score=574;Name=lod=287 NA 5q31.1 NA NA NA NA rs30510 1 1 0.998 0.998403 0.996 0.999 0.9971 1 0.999 1 1 1 1 0.995 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.468038 1.468038 NA 0.991404 0.998102 NA 1 NA 3.6842626 1292 3 53224002 53224002 T C exonic PRKCD NA synonymous SNV PRKCD:NM_212539:exon17:c.T1857C:p.P619P,PRKCD:NM_006254:exon18:c.T1857C:p.P619P exonic ENSG00000163932 NA synonymous SNV ENSG00000163932:ENST00000394729:exon17:c.T1857C:p.P619P,ENSG00000163932:ENST00000330452:exon18:c.T1857C:p.P619P Score=513;Name=lod=162 NA 3p21.1 NA NA NA NA rs900495 0.94 0.94 0.923 0.940495 1 1 0.9712 0.7897 1 1 1 0.98 0.75 0.9835 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42866 NA NA 0.99907 0.822515 NA 0.957 NA 3.6840966 1292 22 37533786 37533786 C G intronic IL2RB NA NA NA intronic ENSG00000100385 NA NA NA NA NA 22q12.3 NA Name=PAX5-C20 NA NA rs228957 0.5 0.5 0.491 0.492212 0.4254 0.5655 0.4452 0.5234 0.4765 0.43 0.62 0.44 0.52 0.4552 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180528 NA NA 0.435349 0.536768 NA 0.355 NA 3.684051 1292 10 50227785 50227785 T C exonic VSTM4 NA synonymous SNV VSTM4:NM_001031746:exon8:c.A873G:p.E291E exonic ENSG00000165633 NA synonymous SNV ENSG00000165633:ENST00000332853:exon8:c.A873G:p.E291E Score=459;Name=lod=98 NA 10q11.23 NA NA NA NA rs1913525 0.94 0.94 0.928 0.935304 1 1 0.9741 0.7685 1 1 1 0.97 0.77 0.9831 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333286 NA NA 0.999535 0.825238 NA 0.92 NA 3.6840316 1292 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 1292 10 135076523 135076523 C A UTR3 ADAM8 NM_001164489:c.*216G>T,NM_001109:c.*137G>T,NM_001164490:c.*137G>T NA NA UTR3 ENSG00000151651 ENST00000445355:c.*137G>T,ENST00000415217:c.*216G>T,ENST00000485491:c.*137G>T NA NA NA NA 10q26.3 NA Name=USF-1 Name=12 NA rs2995300 0.85 0.85 0.83 0.828874 0.8926 0.9167 0.8141 0.6936 0.8661 0.89 0.92 0.82 0.71 0.8702 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 1.145832 NA NA 0.886512 0.723105 NA 0.833 NA 3.6840214 1292 3 47449058 47449058 T C exonic PTPN23 NA synonymous SNV PTPN23:NM_015466:exon12:c.T987C:p.T329T exonic ENSG00000076201 NA synonymous SNV ENSG00000076201:ENST00000431726:exon11:c.T609C:p.T203T,ENSG00000076201:ENST00000265562:exon12:c.T987C:p.T329T Score=461;Name=lod=100 NA 3p21.31 NA NA NA NA rs900688 0.96 0.96 0.95 0.953874 0.998 1 0.9798 0.8374 1 1 1 0.98 0.83 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 0.037067 NA NA 0.998372 0.853382 NA 0.891 NA 3.6839946 1292 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 1292 17 463843 463843 A G intronic VPS53 NA NA NA intronic ENSG00000141252 NA NA NA NA NA 17p13.3 NA Name=GATA-2 NA NA rs741677 0.46 0.46 0.491 0.511981 0.4274 0.2808 0.5418 0.7587 0.4826 0.43 0.26 0.51 0.73 0.4587 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 -0.324505 NA NA 0.430465 0.708352 NA 0.486 NA 3.683435 1292 1 23219493 23219493 T C exonic EPHB2 NA synonymous SNV EPHB2:NM_004442:exon7:c.T1545C:p.G515G,EPHB2:NM_017449:exon7:c.T1545C:p.G515G exonic ENSG00000133216 NA synonymous SNV ENSG00000133216:ENST00000374627:exon7:c.T1530C:p.G510G,ENSG00000133216:ENST00000374630:exon7:c.T1545C:p.G515G,ENSG00000133216:ENST00000374632:exon7:c.T1545C:p.G515G,ENSG00000133216:ENST00000400191:exon7:c.T1545C:p.G515G Score=576;Name=lod=293 NA 1p36.12 NA NA NA NA rs309472 1 1 0.997 0.998203 0.995 1 0.9957 0.9992 1 0.99 1 0.99 1 0.9963 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.519984 1.519984 NA 0.992326 0.99773 NA 1 NA 3.6830406 1292 22 50877166 50877166 G C exonic PPP6R2 NA synonymous SNV PPP6R2:NM_001242899:exon18:c.G2025C:p.A675A,PPP6R2:NM_001242900:exon18:c.G2022C:p.A674A,PPP6R2:NM_014678:exon18:c.G2022C:p.A674A,PPP6R2:NM_001242898:exon19:c.G2103C:p.A701A exonic ENSG00000100239 NA synonymous SNV ENSG00000100239:ENST00000359139:exon18:c.G2022C:p.A674A,ENSG00000100239:ENST00000395741:exon18:c.G2025C:p.A675A,ENSG00000100239:ENST00000395744:exon18:c.G2022C:p.A674A,ENSG00000100239:ENST00000216061:exon20:c.G2103C:p.A701A NA NA 22q13.33 NA NA NA NA rs4824131 0.7 0.7 0.645 0.669129 0.661 0.9345 0.7478 0.4697 0.6176 0.67 0.93 0.73 0.47 0.6821 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 0.271771 NA NA 0.64053 0.493628 NA 0.681 NA 3.6830366 1292 22 46682955 46682955 C T intronic TTC38 NA NA NA intronic ENSG00000075234 NA NA NA NA NA 22q13.31 NA NA NA NA rs55926596 0.06 0.06 0.057 0.0405351 0.1153 0.001 0.0576 0.0106 0.0327 0.12 NA 0.07 0.01 0.0997 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 -0.640221 NA NA 0.102104 0.024512 NA 0.029 NA 3.682896 1292 8 25323777 25323777 T C exonic CDCA2 NA synonymous SNV CDCA2:NM_152562:exon5:c.T474C:p.N158N exonic ENSG00000184661 NA synonymous SNV ENSG00000184661:ENST00000380665:exon4:c.T429C:p.N143N,ENSG00000184661:ENST00000330560:exon5:c.T474C:p.N158N Score=476;Name=lod=115 NA 8p21.2 NA NA NA NA rs10108752 0.96 0.96 0.952 0.955471 0.999 1 0.9957 0.8419 0.9898 1 1 0.99 0.85 0.986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.952762 NA NA 0.998837 0.866546 NA 0.935 NA 3.6828296 1292 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 1292 6 36715921 36715921 C T intronic CPNE5 NA NA NA intronic ENSG00000124772 NA NA NA NA NA 6p21.2 NA NA NA NA rs3213537 0.17 0.17 0.177 0.189696 0.1431 0.2133 0.0965 0.236 0.2168 0.15 0.2 0.13 0.21 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 2.356205 2.356205 NA 0.174104 0.223266 NA 0.246 NA 3.682796 1292 8 27680576 27680576 G T intronic PBK NA NA NA intronic ENSG00000168078 NA NA NA Score=467;Name=lod=105 NA 8p21.1 NA NA NA NA rs727813 0.42 0.42 0.419 0.416933 0.4553 0.38 0.415 0.4281 0.4018 0.44 0.38 0.43 0.41 0.425 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.641544 1.641544 NA 0.436918 0.422152 NA 0.551 NA 3.682782 1292 9 17342383 17342383 C T exonic CNTLN NA synonymous SNV CNTLN:NM_017738:exon12:c.C1827T:p.D609D exonic ENSG00000044459 NA synonymous SNV ENSG00000044459:ENST00000262360:exon12:c.C1827T:p.D609D,ENSG00000044459:ENST00000380647:exon12:c.C1827T:p.D609D,ENSG00000044459:ENST00000425824:exon12:c.C1827T:p.D609D Score=614;Name=lod=416 NA 9p22.2 NA NA NA NA rs1442527 0.95 0.95 0.932 0.949481 0.998 1 0.9885 0.8169 0.999 1 1 0.99 0.79 0.9865 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.32997 NA NA 0.999388 0.844705 NA 0.942 NA 3.6827786 1292 15 90328551 90328551 G C UTR3 ANPEP NM_001150:c.*29C>G NA NA UTR3 ENSG00000166825 ENST00000300060:c.*29C>G NA NA NA NA 15q26.1 NA Name=AP-2gamma NA NA rs10584 0.51 0.51 0.54 0.566693 0.5437 0.2351 0.4395 0.8601 0.6258 0.53 0.26 0.46 0.83 0.5334 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 0.119612 NA NA 0.573505 0.811818 NA 0.623 NA 3.6827284 1292 3 129695954 129695954 T C exonic TRH NA synonymous SNV TRH:NM_007117:exon3:c.T624C:p.L208L exonic ENSG00000170893 NA synonymous SNV ENSG00000170893:ENST00000302649:exon3:c.T624C:p.L208L,ENSG00000170893:ENST00000507066:exon3:c.T612C:p.L204L Score=309;Name=lod=24 NA 3q22.1 NA NA NA NA rs5662 0.96 0.96 0.939 0.958067 0.999 1 0.9741 0.8555 1 1 1 0.97 0.83 0.987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.066414 NA NA 0.998021 0.864668 NA 0.935 NA 3.6826456 1292 2 141816621 141816621 A G exonic LRP1B NA synonymous SNV LRP1B:NM_018557:exon9:c.T1239C:p.V413V exonic ENSG00000168702 NA synonymous SNV ENSG00000168702:ENST00000389484:exon9:c.T1239C:p.V413V Score=592;Name=lod=338 NA 2q22.1 NA NA NA NA rs1525579 0.95 0.95 0.947 0.945288 1 1 0.9841 0.8011 1 1 1 0.99 0.8 0.9843 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.93048 NA NA 0.999767 0.824932 NA 0.986 NA 3.6825996 1292 8 97258719 97258719 C T intronic MTERFD1 NA NA NA intronic ENSG00000156469 NA NA NA NA NA 8q22.1 NA NA Name=25 NA rs1878638 0.38 0.38 0.374 0.376997 0.4284 0.1815 0.3487 0.5378 0.3282 0.45 0.2 0.33 0.52 0.4275 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.881026 NA NA 0.461512 0.53612 NA 0.464 NA 3.682588 1292 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 1292 16 18823379 18823379 T C exonic SMG1 NA synonymous SNV SMG1:NM_015092:exon61:c.A10692G:p.Q3564Q exonic ENSG00000157106 NA synonymous SNV ENSG00000157106:ENST00000565324:exon59:c.A10362G:p.Q3454Q,ENSG00000157106:ENST00000389467:exon61:c.A10695G:p.Q3565Q,ENSG00000157106:ENST00000446231:exon61:c.A10692G:p.Q3564Q Score=664;Name=lod=663 NA 16p12.3 NA NA NA NA rs2606556 0.99 0.99 0.995 0.990815 1 1 0.9352 0.9992 1 1 1 0.94 1 0.9844 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.029129 3.029129 NA 0.999879 0.996641 NA 1 NA 3.6823876 1292 7 12727826 12727826 G C UTR5 ARL4A NM_212460:c.-54G>C,NM_001037164:c.-54G>C,NM_001195396:c.-54G>C,NM_005738:c.-54G>C NA NA UTR5 ENSG00000122644 ENST00000396662:c.-54G>C,ENST00000396664:c.-54G>C,ENST00000356797:c.-54G>C,ENST00000439721:c.-54G>C,ENST00000396663:c.-54G>C,ENST00000404894:c.-54G>C NA NA NA NA 7p21.3 NA NA NA NA rs2280633 0.62 0.62 0.641 0.64377 0.6511 0.3631 0.4841 0.9251 0.6585 0.65 0.35 0.56 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 -1.547037 NA NA NA NA NA 0.601 NA 3.6822334 1292 19 42713835 42713835 A G intronic DEDD2 NA NA NA intronic ENSG00000160570 NA NA NA NA NA 19q13.2 NA NA NA NA rs3745231 0.11 0.11 0.094 0.123602 0.0924 0.0873 0.1138 0.1377 0.181 0.09 0.08 0.13 0.16 0.1247 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.881575 NA NA 0.100721 0.145095 NA 0.072 NA 3.682179 1292 17 6929924 6929924 T C exonic BCL6B NA synonymous SNV BCL6B:NM_181844:exon6:c.T1038C:p.H346H exonic ENSG00000161940 NA synonymous SNV ENSG00000161940:ENST00000537931:exon1:c.T105C:p.H35H,ENSG00000161940:ENST00000293805:exon6:c.T1038C:p.H346H Score=552;Name=lod=233 NA 17p13.1 NA NA NA NA rs379478 0.97 0.97 0.951 0.959864 0.998 0.996 0.987 0.8638 0.9939 1 1 0.99 0.86 0.9877 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.84337 NA NA 0.998817 0.889338 NA 0.971 NA 3.6821496 1292 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 1292 10 98808866 98808866 C G exonic SLIT1 NA synonymous SNV SLIT1:NM_003061:exon14:c.G1311C:p.A437A exonic ENSG00000187122 NA synonymous SNV ENSG00000187122:ENST00000266058:exon14:c.G1311C:p.A437A,ENSG00000187122:ENST00000314867:exon14:c.G1290C:p.A430A,ENSG00000187122:ENST00000371070:exon14:c.G1311C:p.A437A Score=508;Name=lod=155 NA 10q24.1 NA NA NA NA rs2805588 0.96 0.96 0.969 0.958067 0.998 1 0.987 0.8495 1 1 1 0.98 0.86 0.988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.172281 NA NA 0.998605 0.881979 NA 0.964 NA 3.6820616 1292 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 1292 1 147096794 147096794 A G UTR3 BCL9 NM_004326:c.*34A>G NA NA UTR3 ENSG00000116128 ENST00000234739:c.*34A>G NA NA Score=672;Name=lod=718 NA 1q21.2 Score=881;Name=V$OCT1_06 NA NA NA rs867270 0.82 0.82 0.824 0.838259 0.8847 0.7093 0.8862 0.8585 0.862 0.87 0.68 0.9 0.86 0.8661 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 1.172817 NA NA 0.901071 0.856786 NA 0.906 NA 3.6814624 1292 10 47000188 47000188 A G exonic GPRIN2 NA synonymous SNV GPRIN2:NM_014696:exon3:c.A1308G:p.P436P exonic ENSG00000204175 NA synonymous SNV ENSG00000204175:ENST00000374314:exon1:c.A1308G:p.P436P,ENSG00000204175:ENST00000374317:exon3:c.A1308G:p.P436P NA NA 10q11.22 NA NA Name=2 NA rs3127824 0.96 0.96 0.968 0.951278 0.999 1 0.9784 0.8275 1 1 1 0.98 0.85 0.9877 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601475 NA NA 0.998595 0.882393 NA 0.957 NA 3.6813716 1292 1 150771703 150771703 T C exonic CTSK NA synonymous SNV CTSK:NM_000396:exon7:c.A831G:p.A277A exonic ENSG00000143387 NA synonymous SNV ENSG00000143387:ENST00000271651:exon7:c.A831G:p.A277A NA NA 1q21.3 NA NA Name=11 NA rs10788796 0.98 0.98 0.975 0.963259 0.998 0.9931 0.987 0.8986 0.9673 1 0.99 0.98 0.92 0.9887 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.962955 NA NA 0.998605 0.937358 NA 0.964 NA 3.6813616 1292 1 42049032 42049032 G A exonic HIVEP3 NA synonymous SNV HIVEP3:NM_001127714:exon3:c.C1437T:p.S479S,HIVEP3:NM_024503:exon4:c.C1437T:p.S479S exonic ENSG00000127124 NA synonymous SNV ENSG00000127124:ENST00000247584:exon3:c.C1437T:p.S479S,ENSG00000127124:ENST00000372584:exon3:c.C1437T:p.S479S,ENSG00000127124:ENST00000429157:exon3:c.C1437T:p.S479S,ENSG00000127124:ENST00000372583:exon4:c.C1437T:p.S479S Score=591;Name=lod=337 NA 1p34.2 NA NA NA NA rs2984694 0.96 0.96 0.954 0.949281 0.999 1 0.9899 0.8139 1 1 1 0.99 0.83 0.9868 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082388 NA NA 0.999535 0.867907 NA 0.942 NA 3.6813316 1292 1 42049140 42049140 C G exonic HIVEP3 NA synonymous SNV HIVEP3:NM_001127714:exon3:c.G1329C:p.L443L,HIVEP3:NM_024503:exon4:c.G1329C:p.L443L exonic ENSG00000127124 NA synonymous SNV ENSG00000127124:ENST00000247584:exon3:c.G1329C:p.L443L,ENSG00000127124:ENST00000372584:exon3:c.G1329C:p.L443L,ENSG00000127124:ENST00000429157:exon3:c.G1329C:p.L443L,ENSG00000127124:ENST00000372583:exon4:c.G1329C:p.L443L Score=472;Name=lod=111 NA 1p34.2 NA NA NA NA rs2475842 0.96 0.96 0.953 0.949281 0.999 1 0.9899 0.8139 1 1 1 0.99 0.83 0.9868 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.148942 NA NA 0.999535 0.868134 NA 0.949 NA 3.6813316 1292 3 38401839 38401839 T C exonic XYLB NA synonymous SNV XYLB:NM_005108:exon3:c.T150C:p.G50G exonic ENSG00000093217 NA synonymous SNV ENSG00000093217:ENST00000207870:exon3:c.T150C:p.G50G Score=412;Name=lod=63 NA 3p22.2 NA NA NA NA rs818850 0.97 0.97 0.97 0.963259 0.997 1 0.9827 0.8729 0.999 1 1 0.98 0.89 0.9895 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.071724 NA NA 0.998837 0.897186 NA 0.978 NA 3.6813296 1292 4 55141055 55141055 A G exonic PDGFRA NA synonymous SNV PDGFRA:NM_006206:exon12:c.A1701G:p.P567P exonic ENSG00000134853 NA synonymous SNV ENSG00000134853:ENST00000257290:exon12:c.A1701G:p.P567P,ENSG00000134853:ENST00000509490:exon12:c.A1701G:p.P567P NA NA 4q12 NA NA Name=19 NA rs1873778 0.96 0.96 0.96 0.957668 0.999 1 0.9928 0.8442 1 1 1 0.99 0.85 0.988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.928955 NA NA 0.998488 0.881525 ID=COSM1430082;OCCURENCE=1(large_intestine) 0.942 NA 3.6811786 1292 6 51732598 51732598 G A intronic PKHD1 NA NA NA intronic ENSG00000170927 NA NA NA NA NA 6p12.3 NA NA NA NA rs9382043 0.52 0.52 0.503 0.537939 0.3191 0.8383 0.5634 0.4493 0.5552 0.34 0.84 0.49 0.47 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 -0.812942 NA NA NA NA NA 0.428 NA 3.6809 1292 18 252559 252559 G A exonic THOC1 NA synonymous SNV THOC1:NM_005131:exon9:c.C657T:p.D219D exonic ENSG00000079134 NA synonymous SNV ENSG00000079134:ENST00000261600:exon9:c.C657T:p.D219D,ENSG00000079134:ENST00000580038:exon9:c.C657T:p.D219D Score=617;Name=lod=431 NA 18p11.32 NA NA NA NA rs657138 0.96 0.96 0.947 0.954673 1 1 0.9841 0.8366 1 1 1 0.98 0.82 0.9862 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.140844 NA NA 0.999634 0.847178 NA 0.949 NA 3.6808326 1292 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 1292 2 160035207 160035207 T C exonic TANC1 NA synonymous SNV TANC1:NM_001145909:exon14:c.T2019C:p.N673N,TANC1:NM_033394:exon14:c.T2043C:p.N681N exonic ENSG00000115183 NA synonymous SNV ENSG00000115183:ENST00000454300:exon12:c.T1725C:p.N575N,ENSG00000115183:ENST00000263635:exon14:c.T2043C:p.N681N Score=596;Name=lod=352 NA 2q24.2 NA NA NA NA rs6748288 0.98 0.98 0.98 0.979034 0.998 1 0.9942 0.9478 0.9693 1 1 0.99 0.94 0.9904 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.349558 NA NA 0.997643 0.96298 NA 0.957 NA 3.6806236 1292 11 72293602 72293602 A G exonic PDE2A NA synonymous SNV PDE2A:NM_001143839:exon20:c.T1716C:p.D572D,PDE2A:NM_001243784:exon21:c.T1674C:p.D558D,PDE2A:NM_002599:exon21:c.T1737C:p.D579D,PDE2A:NM_001146209:exon22:c.T1710C:p.D570D exonic ENSG00000186642 NA synonymous SNV ENSG00000186642:ENST00000542223:exon2:c.T30C:p.D10D,ENSG00000186642:ENST00000441209:exon3:c.T360C:p.D120D,ENSG00000186642:ENST00000376450:exon11:c.T969C:p.D323D,ENSG00000186642:ENST00000418754:exon17:c.T1392C:p.D464D,ENSG00000186642:ENST00000544570:exon20:c.T1716C:p.D572D,ENSG00000186642:ENST00000334456:exon21:c.T1737C:p.D579D,ENSG00000186642:ENST00000444035:exon21:c.T1710C:p.D570D,ENSG00000186642:ENST00000540345:exon22:c.T1710C:p.D570D Score=457;Name=lod=96 NA 11q13.4 NA NA NA NA rs4944557 0.96 0.96 0.951 0.954872 1 1 0.9885 0.8351 1 1 1 0.99 0.82 0.987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.942451 NA NA 0.999068 0.858182 NA 0.935 NA 3.6805986 1292 1 201285759 201285759 A G exonic PKP1 NA synonymous SNV PKP1:NM_000299:exon4:c.A780G:p.K260K,PKP1:NM_001005337:exon4:c.A780G:p.K260K exonic ENSG00000081277 NA synonymous SNV ENSG00000081277:ENST00000263946:exon4:c.A780G:p.K260K,ENSG00000081277:ENST00000352845:exon4:c.A780G:p.K260K,ENSG00000081277:ENST00000367324:exon4:c.A780G:p.K260K Score=633;Name=lod=496 NA 1q32.1 NA NA NA NA rs1779297 0.98 0.98 0.972 0.969449 1 1 0.9885 0.8926 0.9969 1 1 0.99 0.91 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 0.934925 NA NA 0.996977 0.907172 NA 0.957 NA 3.6804896 1292 5 149677851 149677851 A G exonic ARSI NA synonymous SNV ARSI:NM_001012301:exon2:c.T636C:p.Y212Y exonic ENSG00000183876 NA synonymous SNV ENSG00000183876:ENST00000328668:exon2:c.T636C:p.Y212Y,ENSG00000183876:ENST00000509146:exon2:c.T207C:p.Y69Y,ENSG00000183876:ENST00000515301:exon2:c.T207C:p.Y69Y Score=433;Name=lod=77 NA 5q32 NA NA NA NA rs6579784 1 1 0.997 0.998802 0.998 0.999 0.9957 1 1 1 1 0.99 1 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 -0.615704 NA NA 0.991977 0.998411 NA 0.993 NA 3.6804896 1292 11 64022459 64022459 A G exonic PLCB3 NA synonymous SNV PLCB3:NM_001184883:exon2:c.A135G:p.P45P,PLCB3:NM_000932:exon4:c.A336G:p.P112P exonic ENSG00000149782 NA synonymous SNV ENSG00000149782:ENST00000325234:exon2:c.A135G:p.P45P,ENSG00000149782:ENST00000279230:exon4:c.A336G:p.P112P,ENSG00000149782:ENST00000540288:exon4:c.A336G:p.P112P Score=529;Name=lod=188 NA 11q13.1 NA NA NA NA rs632439 0.94 0.94 0.961 0.953874 1 1 0.9885 0.8313 1 0.96 0.97 0.98 0.84 0.9871 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.65412 NA NA 0.999302 0.864834 NA 0.986 NA 3.6802646 1292 4 1807894 1807894 G A exonic FGFR3 NA synonymous SNV FGFR3:NM_022965:exon12:c.G1617A:p.T539T,FGFR3:NM_000142:exon14:c.G1953A:p.T651T,FGFR3:NM_001163213:exon14:c.G1959A:p.T653T exonic ENSG00000068078 NA synonymous SNV ENSG00000068078:ENST00000352904:exon11:c.G1617A:p.T539T,ENSG00000068078:ENST00000412135:exon12:c.G1617A:p.T539T,ENSG00000068078:ENST00000260795:exon13:c.G1953A:p.T651T,ENSG00000068078:ENST00000340107:exon14:c.G1959A:p.T653T,ENSG00000068078:ENST00000440486:exon14:c.G1953A:p.T651T,ENSG00000068078:ENST00000481110:exon14:c.G1956A:p.T652T Score=536;Name=lod=202 NA 4p16.3 NA NA NA NA rs7688609 0.96 0.96 0.951 0.95607 1 1 0.9914 0.8381 1 1 1 0.99 0.82 0.9873 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032942 NA NA 0.999186 0.868983 NA 0.978 NA 3.6801806 1292 4 76955914 76955914 T C UTR3 CXCL11 NM_005409:c.*32A>G NA NA UTR3 ENSG00000169248 ENST00000306621:c.*32A>G,ENST00000503860:c.*32A>G NA NA Score=284;Name=lod=19 NA 4q21.1 NA NA NA NA rs6532111 0.7 0.7 0.703 0.690495 0.508 0.9375 0.7493 0.7322 0.5256 0.49 0.94 0.71 0.75 0.6092 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 2.328653 2.328653 NA 0.535955 0.709244 NA 0.58 NA 3.6801784 1292 20 50408482 50408482 A G exonic SALL4 NA synonymous SNV SALL4:NM_020436:exon2:c.T540C:p.N180N exonic ENSG00000101115 NA synonymous SNV ENSG00000101115:ENST00000217086:exon2:c.T540C:p.N180N,ENSG00000101115:ENST00000395997:exon2:c.T540C:p.N180N Score=500;Name=lod=143 NA 20q13.2 NA NA NA NA rs6013281 1 1 0.997 0.997404 0.996 1 1 0.9985 0.9928 1 1 1 1 0.9965 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.132521 NA NA 0.99407 0.998638 NA 0.993 NA 3.6800966 1292 5 54635810 54635810 G T intronic SKIV2L2 NA NA NA intronic ENSG00000039123 NA NA NA NA NA 5q11.2 NA NA NA NA rs13436420 0.18 0.18 0.159 0.178514 0.0974 0.2867 0.0937 0.2761 0.0787 0.11 0.27 0.1 0.25 0.1253 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.593853 NA NA 0.097209 0.204721 NA 0.174 NA 3.680091 1292 5 19721490 19721490 T C exonic CDH18 NA synonymous SNV CDH18:NM_001167667:exon5:c.A609G:p.Q203Q,CDH18:NM_004934:exon5:c.A609G:p.Q203Q exonic ENSG00000145526 NA synonymous SNV ENSG00000145526:ENST00000515257:exon3:c.A447G:p.Q149Q,ENSG00000145526:ENST00000511273:exon4:c.A609G:p.Q203Q,ENSG00000145526:ENST00000274170:exon5:c.A609G:p.Q203Q,ENSG00000145526:ENST00000382275:exon5:c.A609G:p.Q203Q,ENSG00000145526:ENST00000502796:exon5:c.A609G:p.Q203Q,ENSG00000145526:ENST00000506372:exon5:c.A609G:p.Q203Q,ENSG00000145526:ENST00000507958:exon7:c.A609G:p.Q203Q Score=508;Name=lod=155 NA 5p14.3 NA NA NA NA rs12187552 0.97 0.97 0.967 0.963658 0.998 1 0.9856 0.8714 1 1 1 0.99 0.89 0.9887 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.360426 1.360426 NA 0.999884 0.876078 NA 0.957 NA 3.6800826 1292 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 1292 19 55708557 55708557 A G exonic PTPRH NA synonymous SNV PTPRH:NM_001161440:exon7:c.T1384C:p.L462L,PTPRH:NM_002842:exon9:c.T1918C:p.L640L exonic ENSG00000080031 NA synonymous SNV ENSG00000080031:ENST00000263434:exon7:c.T1384C:p.L462L,ENSG00000080031:ENST00000376350:exon9:c.T1918C:p.L640L NA NA 19q13.42 NA NA NA NA rs2288521 0.64 0.64 0.676 0.678914 0.66 0.4127 0.7176 0.8631 0.6963 0.66 0.41 0.69 0.85 0.6652 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 -1.152856 NA NA 0.661512 0.827508 NA 0.688 NA 3.6799546 1292 1 161143312 161143312 T C intronic B4GALT3 NA NA NA intronic ENSG00000143224,ENSG00000158850 NA NA NA NA NA 1q23.3 NA NA NA NA rs11579514 0.3 0.3 0.28 0.253794 0.3201 0.3839 0.3098 0.1097 0.2065 0.32 0.41 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 -0.169414 NA NA NA NA NA 0.297 NA 3.6799 1292 12 109644447 109644447 G A intronic ACACB NA NA NA intronic ENSG00000076555 NA NA NA NA NA 12q24.11 NA NA NA NA rs12818490 0.29 0.29 0.26 0.267772 0.3201 0.3244 0.2406 0.2042 0.2607 0.32 0.33 0.29 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 -0.788305 NA NA NA NA NA 0.304 NA 3.6799 1292 16 89783187 89783187 C T exonic VPS9D1 NA synonymous SNV VPS9D1:NM_004913:exon3:c.G219A:p.K73K exonic ENSG00000075399 NA synonymous SNV ENSG00000075399:ENST00000561976:exon2:c.G9A:p.K3K,ENSG00000075399:ENST00000389386:exon3:c.G219A:p.K73K Score=452;Name=lod=92 NA 16q24.3 NA NA NA NA rs4785706 0.98 0.98 0.982 0.97504 0.998 0.999 0.9856 0.9168 0.998 1 1 0.98 0.91 0.9906 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.02297 NA NA 0.998302 0.924987 NA 0.942 NA 3.6797646 1292 2 207988613 207988613 C T exonic KLF7 NA synonymous SNV KLF7:NM_001270943:exon2:c.G519A:p.L173L,KLF7:NM_001270944:exon2:c.G534A:p.L178L,KLF7:NM_003709:exon2:c.G618A:p.L206L exonic ENSG00000118263 NA synonymous SNV ENSG00000118263:ENST00000309446:exon2:c.G618A:p.L206L,ENSG00000118263:ENST00000412414:exon2:c.G534A:p.L178L,ENSG00000118263:ENST00000421199:exon2:c.G519A:p.L173L NA NA 2q33.3 Score=884;Name=V$MZF1_02 NA NA NA rs2700166 0.97 0.97 0.963 0.957468 0.999 1 0.9914 0.8442 1 1 1 0.98 0.86 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 0.406288 NA NA 0.999884 0.877894 NA 0.949 NA 3.6795826 1292 3 105260596 105260596 T C exonic ALCAM NA synonymous SNV ALCAM:NM_001243280:exon8:c.T978C:p.A326A,ALCAM:NM_001243281:exon8:c.T978C:p.A326A,ALCAM:NM_001627:exon8:c.T978C:p.A326A exonic ENSG00000170017 NA synonymous SNV ENSG00000170017:ENST00000306107:exon8:c.T978C:p.A326A,ENSG00000170017:ENST00000472644:exon8:c.T978C:p.A326A,ENSG00000170017:ENST00000486979:exon8:c.T825C:p.A275A Score=600;Name=lod=367 NA 3q13.11 NA NA NA NA rs599278 0.97 0.97 0.958 0.960863 0.999 1 0.987 0.8593 1 1 1 0.99 0.87 0.989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.188756 NA NA 0.999186 0.889015 NA 0.942 NA 3.6794806 1292 15 73023937 73023937 T C exonic BBS4 NA synonymous SNV BBS4:NM_001252678:exon11:c.T390C:p.F130F,BBS4:NM_033028:exon12:c.T906C:p.F302F exonic ENSG00000140463 NA synonymous SNV ENSG00000140463:ENST00000542334:exon11:c.T390C:p.F130F,ENSG00000140463:ENST00000569338:exon11:c.T828C:p.F276F,ENSG00000140463:ENST00000268057:exon12:c.T906C:p.F302F,ENSG00000140463:ENST00000395205:exon12:c.T930C:p.F310F,ENSG00000140463:ENST00000539603:exon13:c.T870C:p.F290F Score=494;Name=lod=136 NA 15q24.1 NA NA NA NA rs12914333 0.97 0.97 0.968 0.960463 1 1 0.987 0.857 1 1 1 0.98 0.88 0.9875 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624602 NA NA 0.999884 0.870337 NA 0.993 NA 3.6792826 1292 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 1292 12 57593101 57593101 G A exonic LRP1 NA synonymous SNV LRP1:NM_002332:exon61:c.G9783A:p.T3261T exonic ENSG00000123384 NA synonymous SNV ENSG00000123384:ENST00000243077:exon61:c.G9783A:p.T3261T NA NA 12q13.3 NA NA NA NA rs1140648 0.54 0.54 0.518 0.533347 0.6839 0.5 0.536 0.2557 0.7863 0.68 0.56 0.57 0.29 0.6219 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159733 NA NA 0.681628 0.329324 NA 0.623 NA 3.6792386 1292 1 156532977 156532977 T C exonic IQGAP3 NA synonymous SNV IQGAP3:NM_178229:exon8:c.A747G:p.Q249Q exonic ENSG00000183856 NA synonymous SNV ENSG00000183856:ENST00000491900:exon7:c.A618G:p.Q206Q,ENSG00000183856:ENST00000361170:exon8:c.A747G:p.Q249Q Score=556;Name=lod=243 NA 1q23.1 NA NA NA NA rs1171547 0.97 0.97 0.964 0.959864 1 1 0.9885 0.854 1 1 1 0.99 0.88 0.9878 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.146021 NA NA 0.999651 0.87517 NA 0.971 NA 3.6792156 1292 1 156536221 156536221 G C exonic IQGAP3 NA synonymous SNV IQGAP3:NM_178229:exon3:c.C243G:p.P81P exonic ENSG00000183856 NA synonymous SNV ENSG00000183856:ENST00000491900:exon2:c.C114G:p.P38P,ENSG00000183856:ENST00000361170:exon3:c.C243G:p.P81P Score=491;Name=lod=132 NA 1q23.1 NA NA NA NA rs2066377 0.97 0.97 0.967 0.959864 1 1 0.9885 0.854 1 1 1 0.99 0.88 0.9878 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.192964 NA NA 0.999651 0.87517 NA 0.971 NA 3.6792156 1292 15 73067234 73067234 T C exonic ADPGK NA synonymous SNV ADPGK:NM_031284:exon2:c.A438G:p.A146A exonic ENSG00000159322 NA synonymous SNV ENSG00000159322:ENST00000311669:exon2:c.A438G:p.A146A,ENSG00000159322:ENST00000565814:exon2:c.A72G:p.A24A NA NA 15q24.1 NA Name=CEBPB NA NA rs11634630 0.97 0.97 0.969 0.960064 1 0.999 0.987 0.8563 1 1 1 0.98 0.88 0.9881 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.397395 NA NA 0.999638 0.876674 NA 0.993 NA 3.6789286 1292 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 1292 13 101288992 101288992 C T intronic TMTC4 NA NA NA intronic ENSG00000125247 NA NA NA Score=713;Name=lod=1049 NA 13q32.3 NA NA NA NA rs3803256 0.46 0.46 0.451 0.466254 0.4324 0.6369 0.3372 0.3956 0.5123 0.43 0.6 0.32 0.42 0.4604 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.94162 1.94162 NA 0.428372 0.39537 NA 0.457 NA 3.678828 1292 1 237890437 237890437 C T exonic RYR2 NA synonymous SNV RYR2:NM_001035:exon76:c.C10776T:p.S3592S exonic ENSG00000198626 NA synonymous SNV ENSG00000198626:ENST00000542537:exon75:c.C10728T:p.S3576S,ENSG00000198626:ENST00000366574:exon76:c.C10776T:p.S3592S,ENSG00000198626:ENST00000360064:exon77:c.C10770T:p.S3590S NA NA 1q43 NA NA NA NA rs2685301 0.97 0.97 0.959 0.960264 1 1 0.9899 0.8548 1 1 1 0.98 0.87 0.9885 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.857684 NA NA 0.99951 0.875405 NA 0.978 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036653.1;CLNDSDB=.;CLNDSDBID=. 3.6786566 1292 8 98289986 98289986 C T exonic TSPYL5 NA synonymous SNV TSPYL5:NM_033512:exon1:c.G87A:p.P29P exonic ENSG00000180543 NA synonymous SNV ENSG00000180543:ENST00000322128:exon1:c.G87A:p.P29P NA NA 8q22.1 NA NA NA NA rs28669903 0.59 0.59 0.548 0.583866 0.6312 0.6339 0.6599 0.385 0.6984 0.64 0.66 0.67 0.39 0.6848 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 0.600724 NA NA 0.672048 0.433193 NA 0.507 NA 3.6786186 1292 10 95552653 95552653 T C exonic LGI1 NA synonymous SNV LGI1:NM_005097:exon6:c.T657C:p.F219F exonic ENSG00000108231 NA synonymous SNV ENSG00000108231:ENST00000542308:exon4:c.T513C:p.F171F,ENSG00000108231:ENST00000371413:exon6:c.T657C:p.F219F,ENSG00000108231:ENST00000371418:exon6:c.T657C:p.F219F Score=524;Name=lod=180 NA 10q23.33 NA NA NA NA rs1111820 0.98 0.98 0.974 0.977436 0.997 1 0.9856 0.9244 1 1 1 0.98 0.92 0.9928 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473994 NA NA 0.998256 0.935315 NA 0.978 NA 3.6786106 1292 1 16726036 16726036 A G intronic SPATA21 NA NA NA intronic ENSG00000187144 NA NA NA NA NA 1p36.13 NA NA NA NA rs61769432 0.05 0.05 0.049 0.0395367 0.1074 0.001 0.0634 0.0091 0.0337 0.1 0.0017 0.08 0.01 0.089 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 2.339601 2.339601 NA 0.125 0.031094 NA 0.109 NA 3.6786 1292 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 1292 9 131764014 131764014 A C intronic NUP188 NA NA NA intronic ENSG00000095319 NA NA NA NA NA 9q34.11 NA NA NA NA rs12336276 0.21 0.21 0.191 0.244409 0.0835 0.3244 0.1023 0.3812 0.2434 0.07 0.33 0.12 0.33 0.15 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.941098 1.941098 NA 0.08814 0.332728 NA 0.203 NA 3.67836 1292 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 1292 5 150415098 150415098 C G intronic TNIP1 NA NA NA intronic ENSG00000145901 NA NA NA NA NA 5q33.1 NA NA NA NA rs2233302 0.09 0.09 0.086 0.0986422 0.0944 0.1726 0.0634 0.0363 0.136 0.1 0.15 0.06 0.04 0.1149 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.750077 NA NA 0.112558 0.052655 NA 0.145 NA 3.678142 1292 2 73447736 73447736 G A intronic SMYD5 NA NA NA intronic ENSG00000135632 NA NA NA NA NA 2p13.2 NA NA NA NA rs2303905 0.29 0.29 0.28 0.25619 0.3221 0.377 0.3026 0.1104 0.228 0.3 0.4 0.34 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 0.401783 NA NA NA NA NA 0.355 NA 3.6779 1292 7 99621579 99621579 T A intronic ZKSCAN1 NA NA NA intronic ENSG00000106261 NA NA NA NA NA 7q22.1 NA NA NA NA rs34766893 0.06 0.06 0.052 0.0419329 0.1153 0.001 0.0735 0.003 0.0389 0.12 NA 0.09 0.0041 0.0885 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 0.330704 NA NA 0.118488 0.021562 NA 0.058 NA 3.677712 1292 2 100176775 100176775 A G intronic AFF3 NA NA NA intronic ENSG00000144218 NA NA NA NA NA 2q11.2 NA NA NA NA rs13008878 0.14 0.14 0.146 0.172125 0.1481 0.2302 0.1167 0.0968 0.2781 0.14 0.22 0.12 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 -0.59499 NA NA 0.174344 0.08514 ID=COSN166221;OCCURENCE=1(breast) 0.21 NA 3.677556 1292 7 103007949 103007949 A C exonic PSMC2 NA synonymous SNV PSMC2:NM_002803:exon10:c.A934C:p.R312R exonic ENSG00000161057 NA synonymous SNV ENSG00000161057:ENST00000544811:exon9:c.A523C:p.R175R,ENSG00000161057:ENST00000292644:exon10:c.A934C:p.R312R,ENSG00000161057:ENST00000435765:exon11:c.A934C:p.R312R Score=674;Name=lod=729 NA 7q22.1 NA NA NA NA rs4520097 0.96 0.96 0.96 0.966254 0.999 1 0.9841 0.8812 1 1 1 0.98 0.85 0.9907 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.013517 NA NA 0.999418 0.916478 NA 0.978 NA 3.6775486 1292 4 8229326 8229326 T C exonic SH3TC1 NA synonymous SNV SH3TC1:NM_018986:exon12:c.T1905C:p.P635P exonic ENSG00000125089 NA synonymous SNV ENSG00000125089:ENST00000245105:exon12:c.T1905C:p.P635P,ENSG00000125089:ENST00000539824:exon12:c.T1677C:p.P559P NA NA 4p16.1 NA NA Name=4 NA rs1281147 0.97 0.97 0.955 0.964457 0.999 1 0.9856 0.8737 1 1 1 0.99 0.88 0.9904 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.926066 NA NA 0.999748 0.912512 NA 0.957 NA 3.6775186 1292 12 56295734 56295734 A G exonic WIBG NA synonymous SNV WIBG:NM_001143853:exon3:c.T534C:p.P178P,WIBG:NM_032345:exon3:c.T537C:p.P179P exonic ENSG00000170473 NA synonymous SNV ENSG00000170473:ENST00000398213:exon3:c.T534C:p.P178P,ENSG00000170473:ENST00000408946:exon3:c.T537C:p.P179P Score=655;Name=lod=612 NA 12q13.2 NA NA NA NA rs7302270 0.97 0.97 0.962 0.961861 1 1 0.9899 0.8608 1 1 1 0.99 0.87 0.9893 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.99089 NA NA 0.99988 0.884283 NA 0.942 NA 3.6774866 1292 14 50251369 50251369 A G exonic NEMF NA synonymous SNV NEMF:NM_004713:exon33:c.T3216C:p.N1072N exonic ENSG00000165525 NA synonymous SNV ENSG00000165525:ENST00000382135:exon9:c.T816C:p.N272N,ENSG00000165525:ENST00000545773:exon32:c.T3090C:p.N1030N,ENSG00000165525:ENST00000546046:exon32:c.T3153C:p.N1051N,ENSG00000165525:ENST00000298310:exon33:c.T3216C:p.N1072N Score=624;Name=lod=456 NA 14q21.3 NA NA NA NA rs10143621 0.97 0.97 0.968 0.958866 1 1 0.9899 0.8495 1 1 1 0.99 0.87 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 0.712008 NA NA 0.999535 0.891058 NA 0.971 NA 3.6774316 1292 12 133433173 133433173 T C exonic CHFR NA synonymous SNV CHFR:NM_001161347:exon8:c.A870G:p.R290R,CHFR:NM_001161344:exon10:c.A1146G:p.R382R,CHFR:NM_001161345:exon10:c.A1146G:p.R382R,CHFR:NM_001161346:exon10:c.A1110G:p.R370R,CHFR:NM_018223:exon10:c.A1023G:p.R341R exonic ENSG00000072609 NA synonymous SNV ENSG00000072609:ENST00000537522:exon2:c.A12G:p.R4R,ENSG00000072609:ENST00000443047:exon8:c.A870G:p.R290R,ENSG00000072609:ENST00000315585:exon10:c.A1023G:p.R341R,ENSG00000072609:ENST00000432561:exon10:c.A1146G:p.R382R,ENSG00000072609:ENST00000450056:exon10:c.A1110G:p.R370R,ENSG00000072609:ENST00000266880:exon11:c.A1146G:p.R382R Score=589;Name=lod=331 NA 12q24.33 NA NA NA NA rs2062163 0.98 0.98 0.979 0.970248 0.999 0.999 0.9986 0.8896 1 1 1 1 0.92 0.9907 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.550274 1.550274 NA 0.999651 0.903541 NA 0.993 NA 3.6773156 1292 19 40327312 40327312 A G intronic FBL NA NA NA intronic ENSG00000105202 NA NA NA NA NA 19q13.2 NA NA NA NA rs3760924 0.08 0.08 0.062 0.0682907 0.1262 0.0992 0.0764 0.0068 0.0542 0.13 0.07 0.08 0.01 0.0923 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.656723 NA NA 0.104419 0.020881 NA 0.022 NA 3.677081 1292 3 64133350 64133350 A G exonic PRICKLE2 NA synonymous SNV PRICKLE2:NM_198859:exon7:c.T816C:p.D272D exonic ENSG00000163637 NA synonymous SNV ENSG00000163637:ENST00000295902:exon7:c.T816C:p.D272D,ENSG00000163637:ENST00000564377:exon8:c.T984C:p.D328D NA NA 3p14.1 NA NA NA NA rs27673 0.99 0.99 0.988 0.983826 0.998 1 0.9971 0.9418 1 1 1 1 0.95 0.9945 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.679082 NA NA 0.997093 0.959809 NA 0.978 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118166.2;CLNDSDB=.;CLNDSDBID=. 3.6770736 1292 2 171355198 171355198 A G exonic MYO3B NA synonymous SNV MYO3B:NM_001083615:exon26:c.A3111G:p.V1037V,MYO3B:NM_138995:exon26:c.A3111G:p.V1037V exonic ENSG00000071909 NA synonymous SNV ENSG00000071909:ENST00000317935:exon26:c.A3111G:p.V1037V,ENSG00000071909:ENST00000334231:exon26:c.A3138G:p.V1046V,ENSG00000071909:ENST00000408978:exon26:c.A3111G:p.V1037V,ENSG00000071909:ENST00000409044:exon26:c.A3111G:p.V1037V,ENSG00000071909:ENST00000484338:exon26:c.A3138G:p.V1046V NA NA 2q31.1 Score=776;Name=V$ER_Q6 NA NA NA rs6761297 0.98 0.98 0.985 0.979233 0.999 0.9911 0.9755 0.947 0.9928 1 0.99 0.99 0.95 0.9911 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.737113 NA NA 0.999513 0.947793 NA 0.978 NA 3.6770536 1292 14 105063298 105063298 G C intronic TMEM179 NA NA NA intronic ENSG00000258986 NA NA NA NA NA 14q32.33 NA NA NA NA rs8022340 0.12 0.12 0.101 0.126398 0.1024 0.0288 0.0735 0.2761 0.0869 0.11 0.03 0.09 0.27 0.1172 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585905 NA NA 0.103412 0.266393 NA 0.138 NA 3.676988 1292 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 1292 11 19970558 19970558 T C exonic NAV2 NA synonymous SNV NAV2:NM_001111018:exon10:c.T2385C:p.D795D,NAV2:NM_145117:exon10:c.T2577C:p.D859D,NAV2:NM_182964:exon10:c.T2577C:p.D859D,NAV2:NM_001244963:exon11:c.T2646C:p.D882D exonic ENSG00000166833 NA synonymous SNV ENSG00000166833:ENST00000349880:exon10:c.T2577C:p.D859D,ENSG00000166833:ENST00000360655:exon10:c.T2385C:p.D795D,ENSG00000166833:ENST00000396085:exon10:c.T2577C:p.D859D,ENSG00000166833:ENST00000396087:exon11:c.T2646C:p.D882D,ENSG00000166833:ENST00000527559:exon12:c.T2433C:p.D811D,ENSG00000166833:ENST00000540292:exon12:c.T2439C:p.D813D Score=486;Name=lod=126 NA 11p15.1 NA NA NA NA rs2585773 0.97 0.97 0.972 0.963059 1 1 0.9885 0.8661 1 1 1 0.99 0.89 0.9906 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.692984 NA NA 0.999301 0.899955 NA 0.971 NA 3.6767656 1292 11 113670052 113670052 T A exonic USP28 NA synonymous SNV USP28:NM_020886:exon25:c.A3144T:p.T1048T exonic ENSG00000048028 NA synonymous SNV ENSG00000048028:ENST00000544967:exon15:c.A2172T:p.T724T,ENSG00000048028:ENST00000545540:exon22:c.A2673T:p.T891T,ENSG00000048028:ENST00000260188:exon24:c.A3048T:p.T1016T,ENSG00000048028:ENST00000003302:exon25:c.A3144T:p.T1048T Score=626;Name=lod=465 NA 11q23.2 NA NA NA NA rs2459971 0.97 0.97 0.968 0.970248 1 1 0.9885 0.8933 1 1 1 0.99 0.89 0.9903 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.398648 1.398648 NA 0.999651 0.899364 NA 0.971 NA 3.6767156 1292 16 16272670 16272670 T C exonic ABCC6 NA synonymous SNV ABCC6:NM_001171:exon18:c.A2400G:p.G800G exonic ENSG00000091262 NA synonymous SNV ENSG00000091262:ENST00000205557:exon18:c.A2400G:p.G800G,ENSG00000091262:ENST00000456970:exon18:c.A2400G:p.G800G Score=417;Name=lod=66 NA 16p13.11 NA NA NA NA rs7500834 0.98 0.98 0.978 0.964457 1 1 0.987 0.8722 1 1 1 0.99 0.92 0.9905 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.788999 NA NA 0.999535 0.895995 NA 0.971 NA 3.6766316 1292 10 13337588 13337588 G A exonic PHYH NA synonymous SNV PHYH:NM_006214:exon3:c.C153T:p.N51N exonic ENSG00000107537 NA synonymous SNV ENSG00000107537:ENST00000263038:exon3:c.C153T:p.N51N,ENSG00000107537:ENST00000396920:exon3:c.C96T:p.N32N,ENSG00000107537:ENST00000479604:exon3:c.C153T:p.N51N NA NA 10p13 NA NA NA NA rs1747682 0.98 0.98 0.971 0.972444 1 1 0.9885 0.9017 1 1 1 0.99 0.9 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 0.367877 NA NA 0.999302 0.900772 NA 0.964 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117910.2;CLNDSDB=.;CLNDSDBID=. 3.6765646 1292 2 220412256 220412256 T C exonic TMEM198 NA synonymous SNV TMEM198:NM_001005209:exon3:c.T195C:p.F65F exonic ENSG00000188760 NA synonymous SNV ENSG00000188760:ENST00000373883:exon3:c.T195C:p.F65F,ENSG00000188760:ENST00000421791:exon3:c.T195C:p.F65F,ENSG00000188760:ENST00000451952:exon3:c.T453C:p.F151F,ENSG00000188760:ENST00000344458:exon4:c.T195C:p.F65F Score=556;Name=lod=243 NA 2q35 NA NA NA NA rs8179770 0.98 0.98 0.972 0.969249 1 1 0.9885 0.8896 1 1 1 0.99 0.9 0.9905 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.217625 NA NA 0.999651 0.916478 NA 0.978 NA 3.6765156 1292 11 64360274 64360274 T C exonic SLC22A12 NA synonymous SNV SLC22A12:NM_001276326:exon2:c.T426C:p.H142H,SLC22A12:NM_001276327:exon2:c.T426C:p.H142H,SLC22A12:NM_144585:exon2:c.T426C:p.H142H exonic ENSG00000197891 NA synonymous SNV ENSG00000197891:ENST00000336464:exon2:c.T426C:p.H142H,ENSG00000197891:ENST00000377572:exon2:c.T426C:p.H142H,ENSG00000197891:ENST00000377574:exon2:c.T426C:p.H142H,ENSG00000197891:ENST00000377567:exon3:c.T426C:p.H142H NA NA 11q13.1 NA NA NA NA rs11231825 0.41 0.41 0.391 0.385982 0.7058 0.2212 0.4323 0.0953 0.5869 0.7 0.23 0.49 0.13 0.5751 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159335 NA NA 0.709332 0.198092 NA 0.5 NA 3.6764346 1292 15 99816860 99816860 A G intronic LRRC28 NA NA NA intronic ENSG00000168904 NA NA NA NA NA 15q26.3 NA NA NA NA rs12914665 0.15 0.15 0.13 0.147963 0.1034 0.3056 0.1297 0.0356 0.1963 0.1 0.31 0.14 0.03 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 -0.021145 NA NA 0.084177 0.034362 NA 0.094 NA 3.676423 1292 12 113445768 113445768 G A intronic OAS2 NA NA NA ncRNA_intronic ENSG00000257452 NA NA NA NA NA 12q24.13 NA NA NA NA rs1293746 0.26 0.26 0.253 0.253594 0.2058 0.5317 0.2104 0.0946 0.2618 0.22 0.47 0.2 0.11 0.2453 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.01824 NA NA 0.205814 0.121198 NA 0.196 NA 3.6764193 1292 16 30724070 30724070 G T exonic SRCAP NA synonymous SNV SRCAP:NM_006662:exon14:c.G2064T:p.R688R exonic ENSG00000080603 NA synonymous SNV ENSG00000080603:ENST00000380361:exon11:c.G2007T:p.R669R,ENSG00000080603:ENST00000262518:exon14:c.G2064T:p.R688R,ENSG00000080603:ENST00000344771:exon14:c.G2064T:p.R688R,ENSG00000080603:ENST00000395059:exon14:c.G2064T:p.R688R Score=692;Name=lod=864 NA 16p11.2 NA NA NA NA rs4889500 0.97 0.97 0.969 0.972644 1 1 0.9928 0.9002 1 1 1 0.99 0.89 0.9906 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.031227 NA NA 0.999651 0.890988 NA 0.942 NA 3.6764156 1292 9 429719 429719 T C exonic DOCK8 NA synonymous SNV DOCK8:NM_001190458:exon34:c.T4191C:p.F1397F,DOCK8:NM_001193536:exon35:c.T4287C:p.F1429F,DOCK8:NM_203447:exon36:c.T4491C:p.F1497F exonic ENSG00000107099 NA synonymous SNV ENSG00000107099:ENST00000382329:exon23:c.T2892C:p.F964F,ENSG00000107099:ENST00000469391:exon34:c.T4191C:p.F1397F,ENSG00000107099:ENST00000432829:exon36:c.T4287C:p.F1429F,ENSG00000107099:ENST00000453981:exon36:c.T4491C:p.F1497F Score=576;Name=lod=292 NA 9p24.3 NA NA NA NA rs7854035 1 1 1 0.999401 0.997 1 1 1 1 0.99 1 1 0.99 0.9978 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.013771 NA NA 0.995581 0.999092 NA 1 NA 3.6762856 1292 22 22869538 22869538 A G exonic ZNF280A NA synonymous SNV ZNF280A:NM_080740:exon2:c.T417C:p.D139D exonic ENSG00000169548 NA synonymous SNV ENSG00000169548:ENST00000302097:exon2:c.T417C:p.D139D NA NA 22q11.22 NA NA NA NA rs361611 0.53 0.53 0.456 0.473842 0.7038 0.4147 0.7334 0.239 0.4315 0.7 0.43 0.7 0.26 0.6091 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 -0.000581 NA NA 0.677907 0.306854 NA 0.406 NA 3.6758596 1292 2 231405572 231405572 T G intronic SP100 NA NA NA ncRNA_intronic ENSG00000235419 NA NA NA NA NA 2q37.1 NA NA NA NA rs4973329 0.17 0.17 0.165 0.160343 0.2396 0.2163 0.1527 0.0408 0.1881 0.25 0.21 0.14 0.04 0.1974 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.744701 NA NA 0.220599 0.054251 NA 0.167 NA 3.6757343 1292 9 131346218 131346218 A C exonic SPTAN1 NA synonymous SNV SPTAN1:NM_001130438:exon16:c.A2163C:p.A721A,SPTAN1:NM_001195532:exon16:c.A2163C:p.A721A,SPTAN1:NM_003127:exon16:c.A2163C:p.A721A exonic ENSG00000197694 NA synonymous SNV ENSG00000197694:ENST00000358161:exon16:c.A2163C:p.A721A,ENSG00000197694:ENST00000372731:exon16:c.A2163C:p.A721A,ENSG00000197694:ENST00000372739:exon16:c.A2163C:p.A721A Score=556;Name=lod=242 NA 9q34.11 NA NA NA NA rs10760566 0.98 0.98 0.971 0.969848 1 1 0.9899 0.8918 0.999 1 1 0.99 0.91 0.9914 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.916628 NA NA 0.999651 0.912392 NA 0.957 NA 3.6756156 1292 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 1292 13 109793474 109793474 T C exonic MYO16 NA synonymous SNV MYO16:NM_001198950:exon32:c.T4914C:p.V1638V,MYO16:NM_015011:exon32:c.T4848C:p.V1616V exonic ENSG00000041515 NA synonymous SNV ENSG00000041515:ENST00000357550:exon31:c.T4848C:p.V1616V,ENSG00000041515:ENST00000356711:exon32:c.T4848C:p.V1616V NA NA 13q33.3 NA NA Name=3 NA rs28705148 0.97 0.97 0.973 0.968051 1 1 0.9914 0.8835 1 1 1 0.99 0.89 0.9917 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.373099 NA NA 0.999418 0.912756 NA 0.768 NA 3.6755486 1292 1 237863718 237863718 T G exonic RYR2 NA synonymous SNV RYR2:NM_001035:exon65:c.T9318G:p.S3106S exonic ENSG00000198626 NA synonymous SNV ENSG00000198626:ENST00000542537:exon64:c.T9270G:p.S3090S,ENSG00000198626:ENST00000366574:exon65:c.T9318G:p.S3106S,ENSG00000198626:ENST00000360064:exon66:c.T9312G:p.S3104S NA NA 1q43 NA NA NA NA rs2797436 0.97 0.97 0.971 0.969249 1 1 0.9914 0.888 1 1 1 0.98 0.9 0.9917 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669271 NA NA 0.999514 0.911312 NA 0.964 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036803.1;CLNDSDB=.;CLNDSDBID=. 3.6754526 1292 17 8424270 8424270 G A exonic MYH10 NA synonymous SNV MYH10:NM_005964:exon17:c.C2106T:p.N702N,MYH10:NM_001256095:exon18:c.C2133T:p.N711N,MYH10:NM_001256012:exon19:c.C2199T:p.N733N exonic ENSG00000133026 NA synonymous SNV ENSG00000133026:ENST00000269243:exon17:c.C2106T:p.N702N,ENSG00000133026:ENST00000379980:exon18:c.C2154T:p.N718N,ENSG00000133026:ENST00000396239:exon18:c.C2169T:p.N723N,ENSG00000133026:ENST00000360416:exon19:c.C2199T:p.N733N NA NA 17p13.1 Score=763;Name=V$STAT5A_02 NA NA NA rs8067456 0.98 0.98 0.983 0.979433 0.999 1 0.9957 0.9251 1 1 1 0.99 0.93 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 0.623416 NA NA 1 0.911484 NA 0.993 NA 3.6753666 1292 15 79606137 79606137 G A exonic TMED3 NA synonymous SNV TMED3:NM_007364:exon2:c.G207A:p.V69V exonic ENSG00000166557 NA synonymous SNV ENSG00000166557:ENST00000299705:exon2:c.G207A:p.V69V,ENSG00000166557:ENST00000424155:exon2:c.G207A:p.V69V,ENSG00000166557:ENST00000536821:exon2:c.G207A:p.V69V,ENSG00000166557:ENST00000543455:exon2:c.G207A:p.V69V Score=403;Name=lod=58 NA 15q25.1 NA NA NA NA rs3825933 0.98 0.98 0.981 0.980232 1 0.9821 0.9856 0.947 0.999 1 0.98 0.99 0.94 0.9916 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.394187 1.394187 NA 0.999767 0.953324 NA 0.978 NA 3.6752996 1292 5 113829121 113829121 A G exonic KCNN2 NA synonymous SNV KCNN2:NM_170775:exon5:c.A360G:p.E120E,KCNN2:NM_021614:exon7:c.A1404G:p.E468E exonic ENSG00000080709 NA synonymous SNV ENSG00000080709:ENST00000503706:exon5:c.A360G:p.E120E,ENSG00000080709:ENST00000264773:exon7:c.A1404G:p.E468E,ENSG00000080709:ENST00000512097:exon8:c.A1404G:p.E468E Score=612;Name=lod=410 NA 5q22.3 NA NA NA NA rs1841251 0.98 0.98 0.975 0.972444 1 1 0.9942 0.8986 1 1 1 1 0.92 0.9917 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.841078 NA NA 0.999767 0.911444 NA 0.964 NA 3.6751996 1293 3 440028 440028 T C exonic CHL1 NA synonymous SNV CHL1:NM_001253387:exon24:c.T3165C:p.N1055N,CHL1:NM_006614:exon25:c.T3213C:p.N1071N exonic ENSG00000134121 NA synonymous SNV ENSG00000134121:ENST00000397491:exon24:c.T3165C:p.N1055N,ENSG00000134121:ENST00000256509:exon25:c.T3213C:p.N1071N Score=638;Name=lod=521 NA 3p26.3 NA NA NA NA rs6771714 0.97 0.97 0.961 0.96885 1 1 0.9899 0.8873 1 1 1 0.99 0.88 0.9917 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.002966 NA NA 1 0.917839 NA 0.906 NA 3.6749666 1293 14 60063472 60063472 A G exonic RTN1 NA synonymous SNV RTN1:NM_206852:exon7:c.T618C:p.H206H,RTN1:NM_021136:exon9:c.T2322C:p.H774H exonic ENSG00000139970 NA synonymous SNV ENSG00000139970:ENST00000342503:exon7:c.T618C:p.H206H,ENSG00000139970:ENST00000395090:exon8:c.T573C:p.H191H,ENSG00000139970:ENST00000267484:exon9:c.T2322C:p.H774H Score=419;Name=lod=67 NA 14q23.1 NA NA NA NA rs6573275 0.99 0.99 0.978 0.979433 0.999 1 0.9971 0.9244 1 1 1 1 0.94 0.9937 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473046 NA NA 0.99907 0.934635 NA 0.957 NA 3.6748966 1293 2 179614952 179614952 A G exonic TTN NA synonymous SNV TTN:NM_133379:exon46:c.T12175C:p.L4059L exonic ENSG00000155657 NA synonymous SNV ENSG00000155657:ENST00000360870:exon46:c.T12175C:p.L4059L NA NA 2q31.2 NA NA NA NA rs10803917 0.98 0.98 0.973 0.97504 1 1 0.9971 0.907 1 1 1 1 0.91 0.9926 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.745763 NA NA 0.999186 0.920563 NA 0.964 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041012.1|RCV000126063.1;CLNDSDB=.|.;CLNDSDBID=.|. 3.6748806 1293 2 179615994 179615994 T C exonic TTN NA synonymous SNV TTN:NM_133379:exon46:c.A11133G:p.T3711T exonic ENSG00000155657 NA synonymous SNV ENSG00000155657:ENST00000360870:exon46:c.A11133G:p.T3711T NA NA 2q31.2 NA NA NA NA rs922986 0.98 0.98 0.967 0.97504 1 1 0.9971 0.907 1 1 1 1 0.91 0.9926 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.454334 NA NA 0.999186 0.920336 NA 0.964 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041002.1|RCV000126057.1;CLNDSDB=.|.;CLNDSDBID=.|. 3.6748806 1293 1 205275421 205275421 A G exonic NUAK2 NA synonymous SNV NUAK2:NM_030952:exon5:c.T585C:p.G195G exonic ENSG00000163545 NA synonymous SNV ENSG00000163545:ENST00000367157:exon5:c.T585C:p.G195G Score=581;Name=lod=305 NA 1q32.1 NA NA NA NA rs4951197 0.98 0.98 0.987 0.979233 0.999 1 0.9928 0.9259 1 1 1 0.99 0.94 0.9938 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.294498 1.294498 NA 0.99907 0.941217 NA 0.986 NA 3.6747966 1293 X 130420415 130420415 T C exonic IGSF1 NA synonymous SNV IGSF1:NM_001170961:exon3:c.A93G:p.S31S,IGSF1:NM_001170963:exon3:c.A93G:p.S31S,IGSF1:NM_001555:exon3:c.A93G:p.S31S,IGSF1:NM_205833:exon3:c.A93G:p.S31S exonic ENSG00000147255 NA synonymous SNV ENSG00000147255:ENST00000361420:exon3:c.A93G:p.S31S,ENSG00000147255:ENST00000370900:exon3:c.A93G:p.S31S,ENSG00000147255:ENST00000370901:exon3:c.A93G:p.S31S,ENSG00000147255:ENST00000370903:exon3:c.A93G:p.S31S NA NA Xq26.2 NA NA NA NA rs4495600 0.98 0.98 0.97615 NA NA NA NA NA NA 1 1 0.99 0.91 0.9921 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147563 NA NA 0.999851 0.921773 NA 0.732 NA 3.6747156 1293 2 202260049 202260049 G A exonic TRAK2 NA synonymous SNV TRAK2:NM_015049:exon8:c.C888T:p.H296H exonic ENSG00000115993 NA synonymous SNV ENSG00000115993:ENST00000332624:exon8:c.C888T:p.H296H,ENSG00000115993:ENST00000430254:exon8:c.C888T:p.H296H Score=668;Name=lod=692 NA 2q33.1 NA NA NA NA rs2256584 0.99 0.99 0.98 0.974641 1 1 0.9928 0.9077 1 1 1 0.99 0.95 0.9924 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.722711 NA NA 0.999651 0.922606 NA 0.986 NA 3.6746156 1293 14 105916420 105916420 C T exonic MTA1 NA synonymous SNV MTA1:NM_001203258:exon5:c.C267T:p.N89N,MTA1:NM_004689:exon5:c.C267T:p.N89N exonic ENSG00000182979 NA synonymous SNV ENSG00000182979:ENST00000498644:exon2:c.C9T:p.N3N,ENSG00000182979:ENST00000405646:exon4:c.C216T:p.N72N,ENSG00000182979:ENST00000331320:exon5:c.C267T:p.N89N,ENSG00000182979:ENST00000406191:exon5:c.C267T:p.N89N,ENSG00000182979:ENST00000438610:exon5:c.C267T:p.N89N Score=509;Name=lod=156 NA 14q32.33 NA NA NA NA rs4983409 0.97 0.97 0.968 0.977236 1 1 0.9971 0.916 0.999 1 1 1 0.87 0.9924 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876108 NA NA 0.999651 0.921471 NA 0.957 NA 3.6746156 1293 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 1293 17 42254011 42254011 C G ncRNA_exonic ASB16-AS1 NA NA NA ncRNA_exonic ENSG00000267080 NA NA NA NA NA 17q21.31 NA NA NA NA rs7220138 0.53 0.53 0.546 0.520168 0.2972 0.752 0.4452 0.7057 0.3129 0.31 0.73 0.39 0.71 0.3854 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 0.242435 NA NA 0.309535 0.624603 NA 0.63 NA 3.6745316 1293 11 64572557 64572557 A G exonic MEN1 NA synonymous SNV MEN1:NM_000244:exon9:c.T1314C:p.H438H,MEN1:NM_130799:exon9:c.T1299C:p.H433H,MEN1:NM_130800:exon9:c.T1314C:p.H438H,MEN1:NM_130801:exon9:c.T1314C:p.H438H,MEN1:NM_130802:exon9:c.T1314C:p.H438H,MEN1:NM_130803:exon9:c.T1314C:p.H438H,MEN1:NM_130804:exon10:c.T1314C:p.H438H exonic ENSG00000133895 NA synonymous SNV ENSG00000133895:ENST00000377313:exon8:c.T1314C:p.H438H,ENSG00000133895:ENST00000377326:exon8:c.T1299C:p.H433H,ENSG00000133895:ENST00000312049:exon9:c.T1299C:p.H433H,ENSG00000133895:ENST00000315422:exon9:c.T1299C:p.H433H,ENSG00000133895:ENST00000337652:exon9:c.T1314C:p.H438H,ENSG00000133895:ENST00000377321:exon9:c.T1194C:p.H398H,ENSG00000133895:ENST00000394374:exon9:c.T1314C:p.H438H,ENSG00000133895:ENST00000443283:exon9:c.T1314C:p.H438H,ENSG00000133895:ENST00000394376:exon10:c.T1314C:p.H438H Score=583;Name=lod=312 NA 11q13.1 NA NA NA NA rs540012 0.98 0.98 0.97 0.976038 1 1 0.9957 0.9115 1 1 1 0.99 0.91 0.9927 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.902764 NA 0 0.999651 0.930259 NA 0.949 NA 3.6743156 1293 1 201970562 201970562 T C exonic RNPEP NA synonymous SNV RNPEP:NM_020216:exon7:c.T1263C:p.V421V exonic ENSG00000176393 NA synonymous SNV ENSG00000176393:ENST00000449524:exon3:c.T387C:p.V129V,ENSG00000176393:ENST00000367286:exon6:c.T1146C:p.V382V,ENSG00000176393:ENST00000295640:exon7:c.T1263C:p.V421V,ENSG00000176393:ENST00000447312:exon7:c.T870C:p.V290V Score=529;Name=lod=188 NA 1q32.1 NA NA NA NA rs4332408 0.98 0.98 0.982 0.978634 0.999 1 0.9942 0.9228 1 1 1 1 0.92 0.9938 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879049 NA NA 0.999651 0.939401 NA 0.978 NA 3.6742156 1293 17 7404107 7404107 T C exonic POLR2A NA synonymous SNV POLR2A:NM_000937:exon11:c.T1821C:p.S607S exonic ENSG00000181222 NA synonymous SNV ENSG00000181222:ENST00000322644:exon11:c.T1821C:p.S607S Score=554;Name=lod=239 NA 17p13.1 NA NA NA NA rs7217707 0.98 0.98 0.969 0.973243 1 1 0.9899 0.9039 1 1 1 0.99 0.9 0.993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.711012 NA NA 0.999651 0.926691 NA 0.971 NA 3.6740156 1293 8 39872866 39872866 A C exonic IDO2 NA synonymous SNV IDO2:NM_194294:exon11:c.A1008C:p.S336S exonic ENSG00000188676 NA synonymous SNV ENSG00000188676:ENST00000389060:exon10:c.A969C:p.S323S,ENSG00000188676:ENST00000502986:exon11:c.A1008C:p.S336S Score=243;Name=lod=13 NA 8p11.21 NA NA NA NA rs2981161 0.98 0.98 0.971 0.97484 1 1 0.9957 0.907 1 1 1 1 0.91 0.9935 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.915868 NA NA 0.999165 0.933741 NA 0.964 NA 3.6740016 1293 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 1293 4 89415396 89415396 T C exonic HERC5 NA synonymous SNV HERC5:NM_016323:exon18:c.T2358C:p.L786L exonic ENSG00000138646 NA synonymous SNV ENSG00000138646:ENST00000508159:exon12:c.T1272C:p.L424L,ENSG00000138646:ENST00000264350:exon18:c.T2358C:p.L786L Score=509;Name=lod=156 NA 4q22.1 NA NA NA NA rs6857425 1 1 1 0.999201 0.996 1 1 1 1 1 1 1 1 0.9988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.88518 NA NA 0.998023 0.999773 NA 1 NA 3.6738436 1293 1 109816176 109816176 A C exonic CELSR2 NA synonymous SNV CELSR2:NM_001408:exon33:c.A8628C:p.G2876G exonic ENSG00000143126 NA synonymous SNV ENSG00000143126:ENST00000271332:exon33:c.A8628C:p.G2876G NA NA 1p13.3 NA Name=AP-2alpha,AP-2gamma NA NA rs441853 0.98 0.98 0.983 0.969848 1 1 0.987 0.8926 1 1 1 0.99 0.9 0.9935 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041128 NA NA 0.9994 0.9264 NA 0.957 NA 3.6737666 1293 16 30734963 30734963 C A exonic SRCAP NA synonymous SNV SRCAP:NM_006662:exon25:c.C4218A:p.S1406S exonic ENSG00000080603 NA synonymous SNV ENSG00000080603:ENST00000380361:exon20:c.C3687A:p.S1229S,ENSG00000080603:ENST00000344771:exon23:c.C3744A:p.S1248S,ENSG00000080603:ENST00000395059:exon24:c.C4032A:p.S1344S,ENSG00000080603:ENST00000262518:exon25:c.C4218A:p.S1406S Score=516;Name=lod=166 NA 16p11.2 NA NA NA NA rs4889502 0.98 0.98 0.977 0.98123 0.999 1 0.9942 0.9327 1 1 1 1 0.93 0.9939 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.049682 NA NA 1 0.929222 NA 0.964 NA 3.6737666 1293 2 220404381 220404381 A G exonic CHPF NA synonymous SNV CHPF:NM_001195731:exon4:c.T1566C:p.Y522Y,CHPF:NM_024536:exon4:c.T2052C:p.Y684Y exonic ENSG00000123989 NA synonymous SNV ENSG00000123989:ENST00000243776:exon4:c.T2052C:p.Y684Y,ENSG00000123989:ENST00000535926:exon4:c.T1566C:p.Y522Y Score=436;Name=lod=79 NA 2q35 NA NA NA NA rs1976616 0.98 0.98 0.987 0.977037 1 1 0.9885 0.9191 1 1 1 0.99 0.92 0.9934 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.929086 NA NA 0.999651 0.936904 NA 0.884 NA 3.6736156 1293 12 70091432 70091432 T C exonic BEST3 NA synonymous SNV BEST3:NM_032735:exon2:c.A147G:p.V49V exonic ENSG00000127325 NA synonymous SNV ENSG00000127325:ENST00000330891:exon2:c.A147G:p.V49V,ENSG00000127325:ENST00000331471:exon2:c.A147G:p.V49V,ENSG00000127325:ENST00000548658:exon2:c.A147G:p.V49V Score=707;Name=lod=992 NA 12q15 NA NA NA NA rs775429 0.98 0.98 0.97 0.973243 1 1 0.9928 0.9024 1 1 1 0.99 0.9 0.9933 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.117718 NA NA 0.999756 0.924676 NA 0.949 NA 3.6736106 1293 12 13221606 13221606 T C exonic KIAA1467 NA synonymous SNV KIAA1467:NM_020853:exon9:c.T1329C:p.D443D exonic ENSG00000084444 NA synonymous SNV ENSG00000084444:ENST00000537625:exon6:c.T657C:p.D219D,ENSG00000084444:ENST00000197268:exon9:c.T1329C:p.D443D,ENSG00000084444:ENST00000416494:exon9:c.T1329C:p.D443D Score=389;Name=lod=51 NA 12p13.1 NA NA NA NA rs1386005 0.99 0.99 0.99 0.984425 0.999 0.999 0.9928 0.9463 1 1 1 1 0.96 0.9948 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.715014 NA NA 0.999302 0.945529 NA 1 NA 3.6735646 1293 3 167159980 167159980 A G intronic SERPINI2 NA NA NA intronic ENSG00000114204 NA NA NA NA NA 3q26.1 NA NA NA NA rs9810473 0.24 0.24 0.2 0.212859 0.0915 0.254 0.219 0.3729 0.0746 0.1 0.31 0.2 0.41 0.1954 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.33957 NA NA 0.039553 0.241136 NA 0.167 NA 3.673547 1293 1 206647742 206647742 A G exonic IKBKE NA synonymous SNV IKBKE:NM_001193322:exon4:c.A156G:p.Q52Q,IKBKE:NM_014002:exon4:c.A156G:p.Q52Q exonic ENSG00000143466 NA synonymous SNV ENSG00000143466:ENST00000367120:exon4:c.A156G:p.Q52Q Score=607;Name=lod=391 NA 1q32.1 NA NA NA NA rs1539242 1 1 1 0.999401 0.997 1 1 1 1 1 1 1 1 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.194633 NA NA 0.997558 1 NA 1 NA 3.6735086 1293 1 151288391 151288391 A G exonic PI4KB NA synonymous SNV PI4KB:NM_001198774:exon2:c.T567C:p.D189D,PI4KB:NM_002651:exon3:c.T603C:p.D201D,PI4KB:NM_001198773:exon4:c.T567C:p.D189D exonic ENSG00000143393 NA synonymous SNV ENSG00000143393:ENST00000271657:exon2:c.T603C:p.D201D,ENSG00000143393:ENST00000368873:exon2:c.T567C:p.D189D,ENSG00000143393:ENST00000368874:exon2:c.T567C:p.D189D,ENSG00000143393:ENST00000368875:exon3:c.T603C:p.D201D,ENSG00000143393:ENST00000438243:exon3:c.T567C:p.D189D,ENSG00000143393:ENST00000368872:exon4:c.T567C:p.D189D Score=720;Name=lod=1129 NA 1q21.3 NA NA NA NA rs1752379 0.98 0.98 0.973 0.978235 1 1 0.9957 0.9198 1 1 1 0.99 0.9 0.9934 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512108 NA NA 0.999767 0.928053 NA 0.993 NA 3.6734996 1293 1 151316161 151316161 G A exonic RFX5 NA synonymous SNV RFX5:NM_000449:exon9:c.C753T:p.L251L,RFX5:NM_001025603:exon9:c.C753T:p.L251L exonic ENSG00000143390 NA synonymous SNV ENSG00000143390:ENST00000436637:exon4:c.C429T:p.L143L,ENSG00000143390:ENST00000452513:exon8:c.C633T:p.L211L,ENSG00000143390:ENST00000290524:exon9:c.C753T:p.L251L,ENSG00000143390:ENST00000368870:exon9:c.C753T:p.L251L,ENSG00000143390:ENST00000392746:exon9:c.C753T:p.L251L,ENSG00000143390:ENST00000452671:exon9:c.C753T:p.L251L NA NA 1q21.3 Score=776;Name=V$PPARG_03 NA NA NA rs1752386 0.98 0.98 0.977 0.978035 1 1 0.9957 0.9191 1 1 1 0.99 0.9 0.9934 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.127762 NA NA 0.999767 0.927372 NA 0.993 NA 3.6734996 1293 9 35107858 35107858 C T exonic FAM214B NA synonymous SNV FAM214B:NM_025182:exon3:c.G414A:p.S138S exonic ENSG00000005238 NA synonymous SNV ENSG00000005238:ENST00000378561:exon2:c.G414A:p.S138S,ENSG00000005238:ENST00000322813:exon3:c.G414A:p.S138S,ENSG00000005238:ENST00000378554:exon3:c.G414A:p.S138S,ENSG00000005238:ENST00000378557:exon3:c.G414A:p.S138S,ENSG00000005238:ENST00000488109:exon3:c.G414A:p.S138S,ENSG00000005238:ENST00000603301:exon3:c.G414A:p.S138S,ENSG00000005238:ENST00000605244:exon3:c.G414A:p.S138S Score=409;Name=lod=61 NA 9p13.3 NA NA NA NA rs7039828 0.99 0.99 0.987 0.983826 0.999 1 0.9971 0.941 1 1 1 1 0.96 0.9948 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.069658 NA NA 0.999419 0.946437 NA 0.993 NA 3.6734476 1293 3 176750734 176750734 G C intronic TBL1XR1 NA NA NA intronic ENSG00000177565 NA NA NA NA NA 3q26.32 NA NA NA NA rs16827730 0.08 0.08 0.073 0.0880591 0.1044 0.001 0.0879 0.1203 0.1176 0.11 0.0017 0.11 0.1 0.1101 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 -0.004701 NA NA 0.112178 0.119351 NA 0.116 NA 3.673322 1293 4 158065038 158065038 T C exonic GLRB NA synonymous SNV GLRB:NM_000824:exon8:c.T831C:p.T277T,GLRB:NM_001166060:exon8:c.T831C:p.T277T,GLRB:NM_001166061:exon8:c.T831C:p.T277T exonic ENSG00000109738 NA synonymous SNV ENSG00000109738:ENST00000264428:exon8:c.T831C:p.T277T,ENSG00000109738:ENST00000509282:exon8:c.T831C:p.T277T,ENSG00000109738:ENST00000541722:exon8:c.T831C:p.T277T Score=433;Name=lod=77 NA 4q32.1 NA NA NA NA rs12507409 0.98 0.98 0.968 0.979633 1 1 0.9942 0.9259 1 1 1 0.99 0.91 0.9937 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.167472 NA NA 0.999651 0.935996 NA 0.978 NA 3.6733156 1293 2 190602513 190602513 T C exonic ANKAR NA synonymous SNV ANKAR:NM_144708:exon18:c.T3528C:p.F1176F exonic ENSG00000151687 NA synonymous SNV ENSG00000151687:ENST00000313581:exon17:c.T3528C:p.F1176F,ENSG00000151687:ENST00000431575:exon17:c.T3315C:p.F1105F,ENSG00000151687:ENST00000520309:exon18:c.T3528C:p.F1176F Score=448;Name=lod=88 NA 2q32.2 NA NA NA NA rs1225099 0.99 0.99 0.986 0.983027 1 0.998 0.9942 0.9402 1 1 1 0.99 0.95 0.9938 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486262 NA NA 0.999651 0.937131 NA 0.986 NA 3.6732156 1293 6 43270097 43270097 T C exonic SLC22A7 NA synonymous SNV SLC22A7:NM_006672:exon7:c.T1215C:p.A405A,SLC22A7:NM_153320:exon7:c.T1221C:p.A407A exonic ENSG00000137204 NA synonymous SNV ENSG00000137204:ENST00000436107:exon2:c.T300C:p.A100A,ENSG00000137204:ENST00000372574:exon7:c.T1215C:p.A405A,ENSG00000137204:ENST00000372589:exon7:c.T1215C:p.A405A,ENSG00000137204:ENST00000372585:exon8:c.T1221C:p.A407A NA NA 6p21.1 Score=746;Name=V$LUN1_01 NA NA NA rs2651184 0.98 0.98 0.971 0.976038 1 1 0.9957 0.9115 1 1 1 1 0.91 0.9938 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.551467 NA NA 0.999651 0.935769 NA 0.949 NA 3.6732156 1293 1 236902594 236902594 C G intronic ACTN2 NA NA NA intronic ENSG00000077522 NA NA NA Score=574;Name=lod=287 NA 1q43 NA NA NA NA rs2288601 0.76 0.76 0.746 0.767572 0.7753 0.7837 0.7853 0.764 0.7352 0.78 0.76 0.75 0.74 0.7753 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 1.851456 1.851456 NA 0.776279 0.779846 NA 0.775 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000036923.1|RCV000123510.1;CLNDSDB=.|.;CLNDSDBID=.|. 3.673121 1293 6 117121894 117121894 G A exonic GPRC6A NA synonymous SNV GPRC6A:NM_148963:exon4:c.C1401T:p.H467H exonic ENSG00000173612 NA synonymous SNV ENSG00000173612:ENST00000310357:exon4:c.C1401T:p.H467H,ENSG00000173612:ENST00000530250:exon4:c.C876T:p.H292H NA NA 6q22.1 Score=867;Name=V$TATA_01 NA NA NA rs6917467 0.98 0.98 0.987 0.980831 1 1 0.9928 0.9312 1 1 1 0.99 0.94 0.9944 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.079208 NA NA 0.999186 0.940536 NA 0.978 NA 3.6730806 1293 4 88295786 88295786 A G intronic HSD17B11 NA NA NA intronic ENSG00000198189 NA NA NA NA NA 4q22.1 NA NA NA NA rs62319101 0.3 0.3 0.301 0.285343 0.327 0.005 0.2882 0.5764 0.136 0.32 0.01 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 0.725732 NA NA NA NA NA 0.442 NA 3.673 1293 22 18910257 18910257 C T intronic PRODH NA NA NA intronic ENSG00000100033 NA NA NA NA NA 22q11.21 NA NA NA NA rs2008912 0.45 0.45 0.438 0.49361 0.327 0.756 0.3415 0.4175 0.6053 0.32 0.74 0.34 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 0.518992 NA NA NA NA NA 0.355 NA 3.673 1293 11 7324475 7324475 T C exonic SYT9 NA synonymous SNV SYT9:NM_175733:exon2:c.T351C:p.D117D exonic ENSG00000170743 NA synonymous SNV ENSG00000170743:ENST00000318881:exon2:c.T351C:p.D117D,ENSG00000170743:ENST00000396716:exon2:c.T255C:p.D85D,ENSG00000170743:ENST00000524820:exon2:c.T255C:p.D85D,ENSG00000170743:ENST00000532592:exon2:c.T351C:p.D117D Score=626;Name=lod=467 NA 11p15.4 NA NA NA NA rs4412741 0.98 0.98 0.975 0.977835 1 1 0.9986 0.9168 1 1 1 1 0.92 0.994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.003923 NA NA 0.999767 0.941617 NA 0.964 NA 3.6728996 1293 16 30780828 30780828 A G exonic RNF40 NA synonymous SNV RNF40:NM_001207034:exon15:c.A2193G:p.L731L,RNF40:NM_001207033:exon17:c.A2493G:p.L831L,RNF40:NM_014771:exon17:c.A2493G:p.L831L exonic ENSG00000103549 NA synonymous SNV ENSG00000103549:ENST00000402121:exon11:c.A1569G:p.L523L,ENSG00000103549:ENST00000357890:exon15:c.A2193G:p.L731L,ENSG00000103549:ENST00000563683:exon16:c.A2373G:p.L791L,ENSG00000103549:ENST00000324685:exon17:c.A2493G:p.L831L Score=612;Name=lod=411 NA 16p11.2 NA NA NA NA rs4889506 0.98 0.98 0.978 0.98143 1 1 0.9942 0.9327 1 1 1 1 0.93 0.9939 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.787865 NA NA 1 0.929222 NA 0.964 NA 3.6727666 1293 17 41132578 41132578 T C upstream PTGES3L,PTGES3L-AARSD1,RUNDC1 NA NA NA upstream ENSG00000108825,ENSG00000198863,ENSG00000267060 NA NA NA NA NA 17q21.31 Score=889;Name=V$CREL_01 Name=YY1_(C-20),Sin3Ak-20,THAP1_(SC-98174),Mxi1_(bHLH),PAX5-C20,SREBP1,Egr-1,AP-2gamma,EBF,TBP,PAX5-N19,ZBTB7A_(SC-34508),YY1,Pol2,TAF1,HMGN3,GABP,Pol2-4H8,EBF1_(C-8),ETS1,STAT1,ELF1_(SC-631),HEY1 Name=148 NA rs692074 0.99 0.99 0.986 0.977436 1 1 0.9841 0.9228 1 1 1 0.98 0.95 0.9944 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.402126 NA NA 0.999502 0.944336 NA 0.188 NA 3.6727646 1293 19 17321669 17321669 A G intronic MYO9B NA NA NA intronic ENSG00000099331 NA NA NA NA NA 19p13.11 Score=780;Name=V$MYCMAX_03 NA NA NA rs12463169 0.6 0.6 0.58 0.630591 0.3926 0.744 0.6772 0.7065 0.6227 0.4 0.78 0.64 0.67 0.5409 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 -0.413732 NA NA 0.393753 0.628633 NA 0.667 NA 3.672747 1293 9 138838140 138838140 T C exonic UBAC1 NA synonymous SNV UBAC1:NM_016172:exon5:c.A519G:p.A173A exonic ENSG00000130560 NA synonymous SNV ENSG00000130560:ENST00000371756:exon5:c.A519G:p.A173A NA NA 9q34.3 NA NA Name=8 NA rs7028495 0.98 0.98 0.975 0.982029 1 1 0.9986 0.9327 1 1 1 1 0.92 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 -0.517859 NA NA 0.999767 0.940309 NA 0.978 NA 3.6726996 1293 17 80195582 80195582 T C exonic SLC16A3 NA synonymous SNV SLC16A3:NM_001042422:exon4:c.T936C:p.G312G,SLC16A3:NM_001042423:exon4:c.T936C:p.G312G,SLC16A3:NM_001206950:exon4:c.T936C:p.G312G,SLC16A3:NM_001206951:exon4:c.T936C:p.G312G,SLC16A3:NM_001206952:exon4:c.T936C:p.G312G,SLC16A3:NM_004207:exon4:c.T936C:p.G312G exonic ENSG00000141526 NA synonymous SNV ENSG00000141526:ENST00000583025:exon1:c.T537C:p.G179G,ENSG00000141526:ENST00000581287:exon3:c.T936C:p.G312G,ENSG00000141526:ENST00000392339:exon4:c.T936C:p.G312G,ENSG00000141526:ENST00000392341:exon4:c.T936C:p.G312G,ENSG00000141526:ENST00000582743:exon4:c.T936C:p.G312G Score=425;Name=lod=71 NA 17q25.3 NA NA NA NA rs9303026 1 1 1 0.999201 0.996 1 1 1 1 0.99 1 1 1 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.090567 NA NA 0.999302 0.999773 NA 0.812 NA 3.6726646 1293 4 17517099 17517099 A G exonic CLRN2 NA synonymous SNV CLRN2:NM_001079827:exon1:c.A210G:p.K70K exonic ENSG00000249581 NA synonymous SNV ENSG00000249581:ENST00000511148:exon1:c.A210G:p.K70K Score=598;Name=lod=358 NA 4p15.32 NA NA NA NA rs1551091 0.99 0.99 0.987 0.982029 1 1 0.9928 0.9357 1 1 1 1 0.95 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 1.290672 1.290672 NA 0.999879 0.935374 NA 0.986 NA 3.6725876 1293 20 57572675 57572675 A G exonic CTSZ NA synonymous SNV CTSZ:NM_001336:exon4:c.T621C:p.Y207Y exonic ENSG00000101160 NA synonymous SNV ENSG00000101160:ENST00000217131:exon4:c.T621C:p.Y207Y NA NA 20q13.32 NA Name=Pol2-4H8 NA NA rs163785 1 1 1 0.999401 0.999 1 1 0.9985 1 1 1 1 1 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 -0.861754 NA NA 0.997209 0.999546 NA 0.978 NA 3.6725576 1293 1 36645811 36645811 T G intronic MAP7D1 NA NA NA intronic ENSG00000116871 NA NA NA NA NA 1p34.3 NA NA NA NA rs41267273 0.06 0.06 0.053 0.0541134 0.1173 0.001 0.0634 0.0144 0.091 0.13 0.0017 0.07 0.01 0.0933 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.49467 NA NA 0.11686 0.030186 NA 0.036 NA 3.67254 1293 2 120438696 120438696 A G exonic TMEM177 NA synonymous SNV TMEM177:NM_001105198:exon2:c.A267G:p.Q89Q,TMEM177:NM_001105199:exon2:c.A267G:p.Q89Q,TMEM177:NM_030577:exon2:c.A267G:p.Q89Q exonic ENSG00000144120 NA synonymous SNV ENSG00000144120:ENST00000272521:exon2:c.A267G:p.Q89Q,ENSG00000144120:ENST00000401466:exon2:c.A267G:p.Q89Q,ENSG00000144120:ENST00000409951:exon2:c.A267G:p.Q89Q,ENSG00000144120:ENST00000424086:exon2:c.A267G:p.Q89Q,ENSG00000144120:ENST00000445518:exon2:c.A267G:p.Q89Q Score=506;Name=lod=152 NA 2q14.2 NA NA NA NA rs939777 0.99 0.99 0.983 0.980431 1 1 0.9928 0.9297 1 1 1 1 0.94 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 0.824584 NA NA 1 0.936223 NA 0.971 NA 3.6724666 1293 20 57599016 57599016 T G exonic TUBB1 NA synonymous SNV TUBB1:NM_030773:exon4:c.T534G:p.T178T exonic ENSG00000101162 NA synonymous SNV ENSG00000101162:ENST00000217133:exon4:c.T534G:p.T178T Score=524;Name=lod=179 NA 20q13.32 NA NA NA NA rs163777 1 1 0.999 0.999002 0.999 1 1 0.997 1 1 1 1 1 0.9977 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.975968 NA NA 0.997558 0.999546 NA 0.993 NA 3.6724086 1293 12 53433089 53433089 C A exonic EIF4B NA synonymous SNV EIF4B:NM_001417:exon13:c.C1644A:p.G548G exonic ENSG00000063046 NA synonymous SNV ENSG00000063046:ENST00000416762:exon12:c.C1527A:p.G509G,ENSG00000063046:ENST00000262056:exon13:c.C1644A:p.G548G,ENSG00000063046:ENST00000420463:exon13:c.C1659A:p.G553G Score=583;Name=lod=313 NA 12q13.13 NA NA NA NA rs1548204 0.99 0.99 0.983 0.982228 0.999 1 0.9928 0.9372 1 1 1 0.99 0.96 0.9955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.769891 NA NA 0.999759 0.958398 NA 0.986 NA 3.6724076 1293 4 110603784 110603784 T C exonic CCDC109B NA synonymous SNV CCDC109B:NM_017918:exon5:c.T498C:p.S166S exonic ENSG00000005059 NA synonymous SNV ENSG00000005059:ENST00000394650:exon5:c.T498C:p.S166S NA NA 4q25 NA NA NA NA rs3733611 0.66 0.66 0.681 0.694289 0.6551 0.5179 0.6153 0.8585 0.7505 0.66 0.53 0.62 0.83 0.6753 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 -1.012933 NA NA 0.663953 0.817522 NA 0.797 NA 3.6723136 1293 1 85624864 85624864 G A exonic SYDE2 NA synonymous SNV SYDE2:NM_032184:exon7:c.C3154T:p.L1052L exonic ENSG00000097096 NA synonymous SNV ENSG00000097096:ENST00000341460:exon7:c.C3154T:p.L1052L Score=529;Name=lod=189 NA 1p22.3 NA NA NA NA rs817412 0.98 0.98 0.981 0.98103 0.999 1 0.9942 0.9319 1 1 1 1 0.92 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066092 NA NA 0.999755 0.953099 NA 0.993 NA 3.6723116 1293 20 43264927 43264927 C T exonic ADA NA synonymous SNV ADA:NM_000022:exon2:c.G36A:p.V12V exonic ENSG00000196839 NA synonymous SNV ENSG00000196839:ENST00000372874:exon2:c.G36A:p.V12V,ENSG00000196839:ENST00000536532:exon2:c.G36A:p.V12V,ENSG00000196839:ENST00000537820:exon2:c.G36A:p.V12V,ENSG00000196839:ENST00000539235:exon2:c.G36A:p.V12V NA NA 20q13.12 NA NA NA NA rs394105 0.99 0.99 0.98 0.982228 0.999 1 0.9986 0.9342 1 1 1 1 0.96 0.9955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.890812 NA NA 0.999884 0.954834 NA 0.986 CLINSIG=non-pathogenic;CLNDBN=Severe_combined_immunodeficiency_disease;CLNREVSTAT=single;CLNACC=RCV000029300.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0085110:31323000 3.6722826 1293 3 58416538 58416538 T C exonic PDHB NA synonymous SNV PDHB:NM_000925:exon6:c.A435G:p.R145R exonic ENSG00000168291 NA synonymous SNV ENSG00000168291:ENST00000383714:exon5:c.A381G:p.R127R,ENSG00000168291:ENST00000474765:exon5:c.A381G:p.R127R,ENSG00000168291:ENST00000302746:exon6:c.A435G:p.R145R,ENSG00000168291:ENST00000469364:exon6:c.A435G:p.R145R Score=490;Name=lod=131 NA 3p14.3 NA NA NA NA rs4264746 0.99 0.99 0.985 0.984824 1 1 0.9914 0.947 1 1 1 0.99 0.96 0.9948 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.299503 1.299503 NA 0.999651 0.940763 NA 0.964 NA 3.6722156 1293 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 1293 2 109389463 109389463 G A exonic RANBP2 NA synonymous SNV RANBP2:NM_006267:exon23:c.G8253A:p.E2751E exonic ENSG00000153201 NA synonymous SNV ENSG00000153201:ENST00000283195:exon23:c.G8253A:p.E2751E Score=554;Name=lod=237 NA 2q12.3 NA NA NA NA rs826580 0.99 0.99 0.996 0.98722 0.999 1 0.9986 0.9531 1 1 1 1 0.97 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 0.666991 NA NA 0.999651 0.953926 NA 0.986 NA 3.6721156 1293 1 175365663 175365663 G A intronic TNR NA NA NA intronic ENSG00000116147 NA NA NA NA NA 1q25.1 Score=927;Name=V$CEBPB_01 NA NA NA rs859446 0.53 0.53 0.52 0.504193 0.4274 0.6032 0.513 0.5492 0.4141 0.43 0.63 0.49 0.59 0.4679 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.560585 2.560585 NA 0.432674 0.529505 NA 0.529 NA 3.672026 1293 12 64472803 64472803 A T exonic SRGAP1 NA synonymous SNV SRGAP1:NM_020762:exon9:c.A1230T:p.S410S exonic ENSG00000196935 NA synonymous SNV ENSG00000196935:ENST00000543397:exon8:c.A1110T:p.S370S,ENSG00000196935:ENST00000355086:exon9:c.A1230T:p.S410S,ENSG00000196935:ENST00000357825:exon9:c.A1230T:p.S410S Score=598;Name=lod=358 NA 12q14.2 NA NA NA NA rs789710 0.99 0.99 0.983 0.979832 1 1 0.9928 0.9274 1 1 1 0.99 0.95 0.9947 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.451618 1.451618 NA 1 0.944394 NA 0.971 NA 3.6719666 1293 19 8654106 8654106 G A intronic ADAMTS10 NA NA NA intronic ENSG00000142303 NA NA NA NA NA 19p13.2 NA NA NA NA rs73501572 0.08 0.08 0.064 0.0704872 0.1034 0.0397 0.1138 0.0325 0.089 0.11 0.04 0.14 0.03 0.0998 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.330968 3.330968 NA 0.125029 0.043804 NA 0.087 NA 3.671771 1293 7 135047703 135047703 T C exonic CNOT4 NA synonymous SNV CNOT4:NM_001190847:exon11:c.A1863G:p.T621T,CNOT4:NM_013316:exon11:c.A1854G:p.T618T,CNOT4:NM_001190849:exon12:c.A2067G:p.T689T,CNOT4:NM_001190850:exon12:c.A2076G:p.T692T exonic ENSG00000080802 NA synonymous SNV ENSG00000080802:ENST00000361528:exon11:c.A1854G:p.T618T,ENSG00000080802:ENST00000423368:exon11:c.A1863G:p.T621T,ENSG00000080802:ENST00000451834:exon12:c.A2067G:p.T689T,ENSG00000080802:ENST00000541284:exon12:c.A2076G:p.T692T NA NA 7q33 NA Name=CTCF,Rad21 NA NA rs6969632 0.99 0.99 0.985 0.980431 0.999 1 0.9942 0.9297 1 1 1 0.99 0.95 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 0.006945 NA NA 1 0.962943 NA 0.971 NA 3.6717666 1293 2 55252214 55252214 T G intronic RTN4 NA NA NA intronic ENSG00000115310 NA NA NA NA NA 2p16.1 NA NA NA NA rs13401937 0.1 0.1 0.097 0.148562 0.1064 0.002 0.1052 0.2428 0.2464 0.1 0.0035 0.1 0.22 0.117 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.781311 NA NA 0.104884 0.238765 NA 0.109 NA 3.671716 1293 X 107418906 107418906 A G exonic COL4A6 NA synonymous SNV COL4A6:NM_001847:exon29:c.T2811C:p.R937R,COL4A6:NM_033641:exon29:c.T2808C:p.R936R exonic ENSG00000197565 NA synonymous SNV ENSG00000197565:ENST00000334504:exon29:c.T2808C:p.R936R,ENSG00000197565:ENST00000372216:exon29:c.T2811C:p.R937R,ENSG00000197565:ENST00000394872:exon29:c.T2811C:p.R937R,ENSG00000197565:ENST00000538570:exon29:c.T2808C:p.R936R,ENSG00000197565:ENST00000545689:exon29:c.T2808C:p.R936R NA NA Xq22.3 NA NA NA NA rs4623610 0.99 0.99 0.99285 NA NA NA NA NA NA 1 1 0.99 0.97 0.9951 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027693 NA NA 0.999851 0.953585 NA 0.681 NA 3.6717156 1293 2 86707504 86707504 T C intronic KDM3A NA NA NA intronic ENSG00000115548 NA NA NA NA NA 2p11.2 NA Name=FOXA1_(C-20) Name=12 NA rs4832290 0.84 0.84 0.828 0.795128 0.7753 0.9444 0.7637 0.8585 0.5982 0.8 0.96 0.73 0.85 0.7822 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 0.357927 NA NA 0.770814 0.8468 NA 0.848 NA 3.671686 1293 17 79891147 79891147 T C exonic PYCR1 NA synonymous SNV PYCR1:NM_006907:exon7:c.A903G:p.S301S exonic ENSG00000183010 NA synonymous SNV ENSG00000183010:ENST00000329875:exon7:c.A903G:p.S301S,ENSG00000183010:ENST00000403172:exon7:c.A810G:p.S270S,ENSG00000183010:ENST00000402252:exon8:c.A984G:p.S328S NA NA 17q25.3 NA Name=Pol2 NA NA rs61747618 0.99 0.99 0.985 0.986022 1 1 0.9971 0.9493 0.999 1 1 0.99 0.95 0.9951 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.056134 NA NA 0.999884 0.945529 NA 0.978 NA 3.6716826 1293 17 79872241 79872241 A G exonic SIRT7 NA synonymous SNV SIRT7:NM_016538:exon7:c.T745C:p.L249L exonic ENSG00000187531 NA synonymous SNV ENSG00000187531:ENST00000328666:exon7:c.T745C:p.L249L,ENSG00000187531:ENST00000572902:exon7:c.T298C:p.L100L Score=501;Name=lod=145 NA 17q25.3 NA NA NA NA rs1879569 0.99 0.99 0.984 0.986222 1 1 0.9971 0.9493 1 1 1 0.99 0.95 0.995 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.007978 NA NA 1 0.944621 NA 0.978 NA 3.6716666 1293 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 1293 20 31981849 31981849 T C exonic CDK5RAP1 NA synonymous SNV CDK5RAP1:NM_016082:exon4:c.A162G:p.T54T,CDK5RAP1:NM_016408:exon4:c.A432G:p.T144T exonic ENSG00000101391 NA synonymous SNV ENSG00000101391:ENST00000339269:exon4:c.A432G:p.T144T,ENSG00000101391:ENST00000346416:exon4:c.A432G:p.T144T,ENSG00000101391:ENST00000357886:exon4:c.A432G:p.T144T,ENSG00000101391:ENST00000452723:exon4:c.A162G:p.T54T,ENSG00000101391:ENST00000544843:exon4:c.A432G:p.T144T NA NA 20q11.21 NA NA NA NA rs291700 0.58 0.58 0.585 0.595647 0.659 0.5744 0.5764 0.4894 0.7096 0.63 0.58 0.57 0.52 0.6479 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 -0.303516 NA NA 0.688256 0.529505 NA 0.645 NA 3.6715106 1293 14 21109170 21109170 T A exonic OR6S1 NA synonymous SNV OR6S1:NM_001001968:exon1:c.A681T:p.A227A exonic ENSG00000181803 NA synonymous SNV ENSG00000181803:ENST00000320704:exon1:c.A681T:p.A227A Score=340;Name=lod=32 NA 14q11.2 NA NA NA NA rs11628297 0.99 0.99 0.985 0.984026 1 1 1 0.9395 1 1 1 1 0.94 0.9954 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419688 NA NA 0.999767 0.948933 NA 0.986 NA 3.6714996 1293 19 16008434 16008434 A G intronic CYP4F2 NA NA NA UTR5 ENSG00000186115 ENST00000586927:c.-13T>C NA NA NA NA 19p13.12 NA NA NA NA rs3093103 0.12 0.12 0.116 0.121805 0.1759 0.0556 0.1239 0.1135 0.1442 0.16 0.07 0.17 0.1 0.15 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.185491 NA NA 0.169342 0.132773 NA 0.167 NA 3.6714247 1293 14 73404680 73404680 A C UTR5 DCAF4 NM_001163508:c.-7A>C,NM_001163509:c.-41A>C,NM_015604:c.-7A>C,NM_181341:c.-7A>C NA NA UTR5 ENSG00000119599 ENST00000358377:c.-7A>C,ENST00000353777:c.-7A>C,ENST00000509320:c.-7A>C,ENST00000509153:c.-7A>C,ENST00000555042:c.-7A>C NA NA NA NA 14q24.2 NA NA NA NA rs3815500 0.26 0.26 0.219 0.238019 0.2078 0.4226 0.4164 0.0378 0.2229 0.21 0.41 0.4 0.05 0.2519 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.046002 NA NA 0.202209 0.065819 NA 0.167 NA 3.6714244 1293 12 10572982 10572982 A G exonic KLRC3 NA synonymous SNV KLRC3:NM_002261:exon1:c.T168C:p.D56D,KLRC3:NM_007333:exon1:c.T168C:p.D56D exonic ENSG00000205810 NA synonymous SNV ENSG00000205810:ENST00000381903:exon1:c.T168C:p.D56D,ENSG00000205810:ENST00000381904:exon1:c.T168C:p.D56D,ENSG00000205810:ENST00000396439:exon1:c.T168C:p.D56D NA NA 12p13.2 NA NA Name=20 NA rs2741881 0.99 0.99 0.99 0.986821 1 1 0.9928 0.9539 1 1 1 0.99 0.96 0.9955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776561 NA NA 0.999767 0.955742 NA 0.623 NA 3.6713996 1293 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 1293 4 154709856 154709856 A C exonic SFRP2 NA synonymous SNV SFRP2:NM_003013:exon1:c.T132G:p.P44P exonic ENSG00000145423 NA synonymous SNV ENSG00000145423:ENST00000274063:exon1:c.T132G:p.P44P NA NA 4q31.3 NA Name=TAF7_(SQ-8) NA NA rs6535952 0.98 0.98 0.977 0.982628 1 1 0.9942 0.9372 1 1 1 0.99 0.93 0.9954 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675848 NA NA 0.999884 0.953246 NA 0.819 NA 3.6713826 1293 14 103996396 103996396 G A exonic TRMT61A NA synonymous SNV TRMT61A:NM_152307:exon2:c.G81A:p.A27A exonic ENSG00000166166 NA synonymous SNV ENSG00000166166:ENST00000389749:exon2:c.G81A:p.A27A NA NA 14q32.32 Score=858;Name=V$AHRARNT_01 NA NA NA rs2765037 0.99 0.99 0.99 0.986222 1 1 0.9986 0.9486 1 1 1 1 0.96 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.78763 1.78763 NA 0.999767 0.95277 NA 0.986 NA 3.6712996 1293 1 77634948 77634948 G A exonic PIGK NA synonymous SNV PIGK:NM_005482:exon4:c.C372T:p.Y124Y exonic ENSG00000142892 NA synonymous SNV ENSG00000142892:ENST00000487906:exon1:c.C57T:p.Y19Y,ENSG00000142892:ENST00000359130:exon4:c.C372T:p.Y124Y,ENSG00000142892:ENST00000370812:exon4:c.C372T:p.Y124Y Score=688;Name=lod=833 NA 1p31.1 NA NA NA NA rs1779199 0.99 0.99 0.985 0.986621 1 1 0.9971 0.9508 1 1 1 1 0.95 0.9955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.551756 NA NA 0.999884 0.950522 NA 0.971 NA 3.6712826 1293 1 77763542 77763542 G A exonic AK5 NA synonymous SNV AK5:NM_012093:exon5:c.G531A:p.K177K,AK5:NM_174858:exon5:c.G609A:p.K203K exonic ENSG00000154027 NA synonymous SNV ENSG00000154027:ENST00000344720:exon5:c.G531A:p.K177K,ENSG00000154027:ENST00000354567:exon5:c.G609A:p.K203K Score=634;Name=lod=503 NA 1p31.1 NA NA NA NA rs1167206 0.99 0.99 0.98 0.978834 1 1 0.9899 0.9251 1 1 1 0.99 0.94 0.9955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.195641 NA NA 0.999884 0.952792 NA 0.986 NA 3.6712826 1293 16 31141826 31141826 A G exonic KAT8 NA synonymous SNV KAT8:NM_032188:exon9:c.A1056G:p.P352P,KAT8:NM_182958:exon9:c.A1056G:p.P352P exonic ENSG00000103510 NA synonymous SNV ENSG00000103510:ENST00000219797:exon9:c.A1056G:p.P352P,ENSG00000103510:ENST00000448516:exon9:c.A1056G:p.P352P,ENSG00000103510:ENST00000543774:exon10:c.A1056G:p.P352P NA NA 16p11.2 Score=846;Name=V$OLF1_01 NA NA NA rs1549295 0.99 0.99 0.979 0.986022 1 0.999 0.9971 0.9493 1 1 1 1 0.94 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.439598 NA NA 0.999884 0.953118 NA 0.913 NA 3.6711826 1293 16 30964940 30964940 A G exonic ORAI3 NA synonymous SNV ORAI3:NM_152288:exon2:c.A663G:p.Q221Q exonic ENSG00000175938 NA synonymous SNV ENSG00000175938:ENST00000318663:exon2:c.A663G:p.Q221Q,ENSG00000175938:ENST00000566237:exon2:c.A663G:p.Q221Q NA NA 16p11.2 NA NA Name=144 NA rs9926903 0.99 0.99 0.986 0.988219 0.999 1 0.9986 0.9569 1 1 1 1 0.95 0.9965 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.552986 NA NA 1 0.963814 NA 0.942 NA 3.6711666 1293 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 1293 15 22940670 22940670 C T intronic CYFIP1 NA NA NA intronic ENSG00000068793 NA NA NA NA NA 15q11.2 NA NA NA NA rs3751566 0.23 0.23 0.21 0.189896 0.329 0.1121 0.3516 0.0908 0.1462 0.35 0.12 0.34 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 0.061492 NA NA NA NA NA 0.174 NA 3.671 1293 9 131375701 131375701 A G exonic SPTAN1 NA synonymous SNV SPTAN1:NM_001195532:exon38:c.A5010G:p.L1670L,SPTAN1:NM_003127:exon39:c.A5070G:p.L1690L,SPTAN1:NM_001130438:exon40:c.A5085G:p.L1695L exonic ENSG00000197694 NA synonymous SNV ENSG00000197694:ENST00000372731:exon39:c.A5070G:p.L1690L,ENSG00000197694:ENST00000358161:exon40:c.A5085G:p.L1695L,ENSG00000197694:ENST00000372739:exon40:c.A5085G:p.L1695L Score=567;Name=lod=268 NA 9q34.11 NA NA NA NA rs1415568 0.99 0.99 0.989 0.984824 1 1 0.9942 0.9455 1 1 1 0.99 0.96 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 1.217936 NA NA 0.999767 0.957331 NA 0.971 NA 3.6709996 1293 10 104160434 104160434 A G exonic NFKB2 NA synonymous SNV NFKB2:NM_001261403:exon16:c.A1821G:p.A607A,NFKB2:NM_001077494:exon17:c.A1821G:p.A607A,NFKB2:NM_002502:exon17:c.A1821G:p.A607A exonic ENSG00000077150 NA synonymous SNV ENSG00000077150:ENST00000189444:exon17:c.A1821G:p.A607A,ENSG00000077150:ENST00000369966:exon17:c.A1821G:p.A607A,ENSG00000077150:ENST00000428099:exon17:c.A1821G:p.A607A NA NA 10q24.32 Score=920;Name=V$LMO2COM_01 NA NA NA rs4919634 0.99 0.99 0.995 0.986821 0.999 1 0.9942 0.9539 1 1 1 0.99 0.98 0.9968 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.199054 NA NA 0.999881 0.968312 NA 0.71 NA 3.6709856 1293 6 69758072 69758072 A T intronic BAI3 NA NA NA intronic ENSG00000135298 NA NA NA NA NA 6q12 NA NA NA NA rs3757049 0.21 0.21 0.17 0.216054 0.0984 0.6022 0.2421 0.0136 0.1943 0.1 0.56 0.19 0.02 0.1533 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.100615 NA NA 0.077327 0.024374 NA 0.174 NA 3.670973 1293 19 40224986 40224986 A G exonic CLC NA synonymous SNV CLC:NM_001828:exon3:c.T240C:p.N80N exonic ENSG00000105205 NA synonymous SNV ENSG00000105205:ENST00000221804:exon3:c.T240C:p.N80N NA NA 19q13.2 NA NA NA NA rs384138 0.59 0.59 0.617 0.609225 0.6988 0.3373 0.513 0.7481 0.6779 0.68 0.35 0.53 0.77 0.6303 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 -0.668026 NA NA 0.666744 0.762823 ID=COSM1129862;OCCURENCE=1(prostate) 0.616 NA 3.6708226 1293 1 196227526 196227526 A G exonic KCNT2 NA synonymous SNV KCNT2:NM_198503:exon26:c.T3009C:p.D1003D exonic ENSG00000162687 NA synonymous SNV ENSG00000162687:ENST00000367431:exon25:c.T2811C:p.D937D,ENSG00000162687:ENST00000367433:exon25:c.T2937C:p.D979D,ENSG00000162687:ENST00000294725:exon26:c.T3009C:p.D1003D Score=414;Name=lod=64 NA 1q31.3 NA NA NA NA rs977157 0.99 0.99 0.99 0.98722 1 1 0.9914 0.9561 1 1 1 0.99 0.94 0.9961 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.242501 NA NA 0.999767 0.960508 NA 0.978 NA 3.6707996 1293 11 60620590 60620590 C G exonic PTGDR2 NA synonymous SNV PTGDR2:NM_004778:exon2:c.G606C:p.R202R exonic ENSG00000183134 NA synonymous SNV ENSG00000183134:ENST00000332539:exon2:c.G606C:p.R202R Score=259;Name=lod=15 NA 11q12.2 NA NA NA NA rs2428461 0.98 0.98 0.989 0.984625 1 1 0.9942 0.9448 1 0.99 1 0.99 0.94 0.996 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.481382 NA NA 1 0.956176 NA 0.406 NA 3.6706666 1293 16 8736028 8736028 T C exonic METTL22 NA synonymous SNV METTL22:NM_024109:exon8:c.T871C:p.L291L exonic ENSG00000067365 NA synonymous SNV ENSG00000067365:ENST00000572956:exon4:c.T259C:p.L87L,ENSG00000067365:ENST00000381920:exon8:c.T871C:p.L291L,ENSG00000067365:ENST00000561758:exon9:c.T703C:p.L235L Score=343;Name=lod=33 NA 16p13.2 NA NA NA NA rs1614616 0.99 0.99 0.993 0.985823 1 1 0.9928 0.9501 1 1 1 0.99 0.97 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 -0.672231 NA NA 0.99988 0.958824 NA 1 NA 3.6705866 1293 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 1293 1 94578548 94578548 T C exonic ABCA4 NA synonymous SNV ABCA4:NM_000350:exon2:c.A141G:p.P47P exonic ENSG00000198691 NA synonymous SNV ENSG00000198691:ENST00000370225:exon2:c.A141G:p.P47P,ENSG00000198691:ENST00000535735:exon2:c.A141G:p.P47P NA NA 1p22.1 NA NA NA NA rs4847281 0.99 0.99 0.986 0.987021 1 1 0.9957 0.9531 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 -0.582107 NA NA 0.999884 0.963913 NA 1 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000085396.1;CLNDSDB=.;CLNDSDBID=. 3.6703826 1293 3 137843106 137843106 T C exonic A4GNT NA synonymous SNV A4GNT:NM_016161:exon3:c.A1023G:p.X341X exonic ENSG00000118017 NA synonymous SNV ENSG00000118017:ENST00000236709:exon3:c.A1023G:p.X341X NA NA 3q22.3 NA NA NA NA rs2170309 0.67 0.67 0.636 0.654153 0.672 0.6389 0.7233 0.6384 0.6237 0.67 0.65 0.69 0.68 0.6549 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 0.028446 NA NA 0.669419 0.643668 NA 0.659 NA 3.6703476 1293 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 1293 11 5529865 5529865 G A exonic UBQLN3 NA synonymous SNV UBQLN3:NM_017481:exon2:c.C924T:p.S308S exonic ENSG00000175520 NA synonymous SNV ENSG00000175520:ENST00000311659:exon2:c.C924T:p.S308S Score=542;Name=lod=212 NA 11p15.4 NA NA NA NA rs186434 0.99 0.99 0.983 0.986222 1 1 1 0.9478 1 1 1 1 0.95 0.997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.506304 NA NA 0.999535 0.969105 NA 0.978 NA 3.6701316 1293 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 1293 9 95018903 95018903 A G intronic IARS NA NA NA intronic ENSG00000196305 NA NA NA NA NA 9q22.31 NA NA NA NA rs9299403 0.34 0.34 0.337 0.345248 0.33 0.0992 0.2435 0.7141 0.1881 0.3 0.12 0.27 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 0.864353 NA NA NA NA NA 0.362 NA 3.67 1293 1 145532549 145532549 T C exonic ITGA10 NA synonymous SNV ITGA10:NM_003637:exon9:c.T1002C:p.F334F exonic ENSG00000143127 NA synonymous SNV ENSG00000143127:ENST00000539363:exon5:c.T573C:p.F191F,ENSG00000143127:ENST00000538811:exon6:c.T609C:p.F203F,ENSG00000143127:ENST00000369304:exon9:c.T1002C:p.F334F Score=541;Name=lod=210 NA 1q21.1 NA NA NA NA rs1328584 0.99 0.99 0.983 0.988019 1 1 0.9986 0.9554 1 1 1 1 0.95 0.9967 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.972271 NA NA 1 0.965048 NA 0.978 NA 3.6699666 1293 12 132271113 132271113 T C exonic SFSWAP NA synonymous SNV SFSWAP:NM_004592:exon15:c.T2514C:p.S838S,SFSWAP:NM_001261411:exon16:c.T2670C:p.S890S exonic ENSG00000061936 NA synonymous SNV ENSG00000061936:ENST00000261674:exon15:c.T2514C:p.S838S,ENSG00000061936:ENST00000541286:exon16:c.T2670C:p.S890S Score=433;Name=lod=77 NA 12q24.33 NA NA NA NA rs7136643 0.99 0.99 0.997 0.99381 0.999 1 0.9957 0.9796 1 1 1 0.99 0.98 0.9981 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.404269 1.404269 NA 0.999651 0.986086 NA 0.935 NA 3.6699156 1293 10 34688287 34688287 G A exonic PARD3 NA synonymous SNV PARD3:NM_001184790:exon6:c.C729T:p.H243H,PARD3:NM_001184791:exon6:c.C729T:p.H243H,PARD3:NM_001184785:exon7:c.C861T:p.H287H,PARD3:NM_001184786:exon7:c.C861T:p.H287H,PARD3:NM_001184787:exon7:c.C861T:p.H287H,PARD3:NM_001184788:exon7:c.C861T:p.H287H,PARD3:NM_001184789:exon7:c.C861T:p.H287H,PARD3:NM_001184792:exon7:c.C861T:p.H287H,PARD3:NM_001184793:exon7:c.C861T:p.H287H,PARD3:NM_001184794:exon7:c.C861T:p.H287H,PARD3:NM_019619:exon7:c.C861T:p.H287H exonic ENSG00000148498 NA synonymous SNV ENSG00000148498:ENST00000544292:exon3:c.C51T:p.H17H,ENSG00000148498:ENST00000374790:exon6:c.C729T:p.H243H,ENSG00000148498:ENST00000374794:exon6:c.C729T:p.H243H,ENSG00000148498:ENST00000545260:exon6:c.C729T:p.H243H,ENSG00000148498:ENST00000340077:exon7:c.C861T:p.H287H,ENSG00000148498:ENST00000346874:exon7:c.C861T:p.H287H,ENSG00000148498:ENST00000350537:exon7:c.C861T:p.H287H,ENSG00000148498:ENST00000374773:exon7:c.C861T:p.H287H,ENSG00000148498:ENST00000374776:exon7:c.C861T:p.H287H,ENSG00000148498:ENST00000374788:exon7:c.C861T:p.H287H,ENSG00000148498:ENST00000374789:exon7:c.C861T:p.H287H,ENSG00000148498:ENST00000545693:exon7:c.C861T:p.H287H Score=696;Name=lod=901 NA 10p11.21 NA NA NA NA rs2796011 1 1 0.999 0.9998 1 1 1 0.9992 1 1 1 1 1 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 1.150824 NA NA 0.997791 0.999773 NA 1 NA 3.6698756 1293 5 137347498 137347498 G A exonic FAM13B NA synonymous SNV FAM13B:NM_001101801:exon4:c.C153T:p.S51S,FAM13B:NM_001101800:exon5:c.C507T:p.S169S,FAM13B:NM_016603:exon5:c.C507T:p.S169S exonic ENSG00000031003 NA synonymous SNV ENSG00000031003:ENST00000425075:exon4:c.C153T:p.S51S,ENSG00000031003:ENST00000033079:exon5:c.C507T:p.S169S,ENSG00000031003:ENST00000420893:exon5:c.C507T:p.S169S Score=734;Name=lod=1280 NA 5q31.2 NA NA NA NA rs10064910 1 1 0.995 0.98722 1 1 0.9957 0.9539 1 1 1 1 0.98 0.9968 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791015 NA NA 1 0.968679 NA 0.986 NA 3.6698666 1293 7 133868507 133868507 C T exonic LRGUK NA synonymous SNV LRGUK:NM_144648:exon11:c.C1236T:p.A412A exonic ENSG00000155530 NA synonymous SNV ENSG00000155530:ENST00000285928:exon11:c.C1236T:p.A412A Score=431;Name=lod=75 NA 7q33 NA NA NA NA rs1222419 0.99 0.99 0.995 0.993211 1 1 0.9986 0.975 1 1 1 1 0.98 0.9973 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011334 NA NA 0.999535 0.97685 NA 0.971 NA 3.6698316 1293 2 179702268 179702268 A G exonic CCDC141 NA synonymous SNV CCDC141:NM_173648:exon23:c.T3678C:p.P1226P exonic ENSG00000163492 NA synonymous SNV ENSG00000163492:ENST00000295723:exon13:c.T1953C:p.P651P,ENSG00000163492:ENST00000343876:exon13:c.T2010C:p.P670P,ENSG00000163492:ENST00000420890:exon23:c.T3678C:p.P1226P Score=511;Name=lod=159 NA 2q31.2 NA NA NA NA rs1032283 0.99 0.99 0.984 0.988019 1 1 0.9971 0.9561 1 1 1 0.99 0.96 0.997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.315718 NA NA 0.999884 0.966182 NA 0.978 NA 3.6697826 1293 16 77228629 77228629 A G exonic MON1B NA synonymous SNV MON1B:NM_014940:exon4:c.A873G:p.R291R exonic ENSG00000103111 NA synonymous SNV ENSG00000103111:ENST00000545553:exon2:c.A435G:p.R145R,ENSG00000103111:ENST00000439557:exon3:c.A546G:p.R182R,ENSG00000103111:ENST00000248248:exon4:c.A873G:p.R291R Score=551;Name=lod=232 NA 16q23.1 NA NA NA NA rs2232503 0.99 0.99 0.99 0.98722 1 0.999 0.9986 0.9531 1 1 1 1 0.95 0.9972 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.419262 1.419262 NA 0.999767 0.968153 NA 0.92 NA 3.6696996 1293 2 170218847 170218847 C G exonic LRP2 NA synonymous SNV LRP2:NM_004525:exon1:c.G63C:p.A21A exonic ENSG00000081479 NA synonymous SNV ENSG00000081479:ENST00000263816:exon1:c.G63C:p.A21A,ENSG00000081479:ENST00000443831:exon1:c.G63C:p.A21A NA NA 2q31.1 NA NA NA NA rs1559014 0.98 0.98 0.988 0.984625 1 1 0.9914 0.9463 1 1 1 0.99 0.94 0.9971 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.543961 NA NA 0.999878 0.968162 NA 0.913 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117542.2;CLNDSDB=.;CLNDSDBID=. 3.6696886 1293 18 25565082 25565082 A G exonic CDH2 NA synonymous SNV CDH2:NM_001792:exon13:c.T2091C:p.R697R exonic ENSG00000170558 NA synonymous SNV ENSG00000170558:ENST00000399380:exon12:c.T1998C:p.R666R,ENSG00000170558:ENST00000269141:exon13:c.T2091C:p.R697R NA NA 18q12.1 Score=770;Name=V$AHR_01 NA NA NA rs1220144 0.99 0.99 0.984 0.990016 1 1 0.9986 0.9629 1 1 1 1 0.96 0.9971 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264637 NA NA 0.999884 0.970722 NA 0.978 NA 3.6696826 1293 2 132359063 132359063 A G ncRNA_intronic RNU6-81P NA NA NA ncRNA_exonic ENSG00000204434 NA NA NA NA NA 2q21.1 NA NA NA NA rs7580167 0.96 0.96 0.962 0.954673 0.997 1 0.9813 0.8404 1 1 0.99 0.99 0.85 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 -0.951778 NA NA NA NA NA 0.377 NA 3.6696666 1293 3 48476431 48476431 C G exonic CCDC51 NA synonymous SNV CCDC51:NM_001256964:exon2:c.G108C:p.L36L,CCDC51:NM_024661:exon2:c.G108C:p.L36L exonic ENSG00000164051 NA synonymous SNV ENSG00000164051:ENST00000395694:exon2:c.G108C:p.L36L,ENSG00000164051:ENST00000395696:exon2:c.G108C:p.L36L,ENSG00000164051:ENST00000438370:exon2:c.G108C:p.L36L,ENSG00000164051:ENST00000446140:exon2:c.G108C:p.L36L Score=374;Name=lod=44 NA 3p21.31 NA NA NA NA rs13062723 0.99 0.99 0.991 0.98722 1 1 0.9928 0.9554 1 1 1 0.99 0.96 0.9972 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.58494 1.58494 NA 0.999879 0.97033 NA 0.986 NA 3.6695876 1293 18 55362532 55362532 T G exonic ATP8B1 NA synonymous SNV ATP8B1:NM_005603:exon10:c.A811C:p.R271R exonic ENSG00000081923 NA synonymous SNV ENSG00000081923:ENST00000283684:exon9:c.A811C:p.R271R,ENSG00000081923:ENST00000536015:exon10:c.A811C:p.R271R Score=563;Name=lod=259 NA 18q21.31 NA NA NA NA rs319443 1 1 0.994 0.992612 1 1 0.9986 0.9728 1 1 1 1 0.98 0.9972 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.260367 1.260367 NA 0.999884 0.969814 NA 0.993 NA 3.6695826 1293 18 724612 724612 A G exonic YES1 NA synonymous SNV YES1:NM_005433:exon12:c.T1444C:p.L482L exonic ENSG00000176105 NA synonymous SNV ENSG00000176105:ENST00000314574:exon12:c.T1444C:p.L482L,ENSG00000176105:ENST00000577961:exon12:c.T1459C:p.L487L,ENSG00000176105:ENST00000584307:exon12:c.T1444C:p.L482L Score=729;Name=lod=1228 NA 18p11.32 NA NA NA NA rs537141 0.99 0.99 0.996 0.989816 1 1 0.9971 0.9637 0.999 1 1 0.99 0.97 0.9973 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.096852 NA NA 0.999884 0.97458 NA 0.993 NA 3.6694826 1293 20 32379263 32379263 T C exonic ZNF341 NA synonymous SNV ZNF341:NM_032819:exon15:c.T2484C:p.A828A exonic ENSG00000131061 NA synonymous SNV ENSG00000131061:ENST00000342427:exon15:c.T2484C:p.A828A,ENSG00000131061:ENST00000375200:exon15:c.T2505C:p.A835A NA NA 20q11.22 NA NA NA NA rs2626551 0.8 0.8 0.782 0.813498 0.6282 0.9355 0.7493 0.9743 0.7065 0.62 0.93 0.72 0.96 0.7239 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 0.340606 NA NA 0.645101 0.908451 ID=COSM1565833;OCCURENCE=1(large_intestine) 0.783 NA 3.6694656 1293 6 7563983 7563983 T G exonic DSP NA synonymous SNV DSP:NM_001008844:exon6:c.T741G:p.A247A,DSP:NM_004415:exon6:c.T741G:p.A247A exonic ENSG00000096696 NA synonymous SNV ENSG00000096696:ENST00000379802:exon6:c.T741G:p.A247A,ENSG00000096696:ENST00000418664:exon6:c.T741G:p.A247A NA NA 6p24.3 NA NA NA NA rs2806234 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.005582 NA NA 0.99814 0.999319 NA 0.957 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided,not_specified;CLNREVSTAT=single|single,single;CLNACC=RCV000038087.1|RCV000124814.1,RCV000038088.1;CLNDSDB=.|.,.;CLNDSDBID=.|.,. 3.6694266 1293 4 76793228 76793228 A G exonic PPEF2 NA synonymous SNV PPEF2:NM_006239:exon13:c.T1599C:p.I533I exonic ENSG00000156194 NA synonymous SNV ENSG00000156194:ENST00000286719:exon13:c.T1599C:p.I533I Score=631;Name=lod=488 NA 4q21.1 NA NA NA NA rs1394916 0.99 0.99 0.993 0.990815 1 1 0.9971 0.9675 0.999 1 1 1 0.97 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 1.071353 NA NA 0.999767 0.973445 NA 0.986 NA 3.6693996 1293 11 10822350 10822350 C T exonic EIF4G2 NA synonymous SNV EIF4G2:NM_001042559:exon15:c.G1458A:p.P486P,EIF4G2:NM_001172705:exon16:c.G1572A:p.P524P,EIF4G2:NM_001418:exon16:c.G1572A:p.P524P exonic ENSG00000110321 NA synonymous SNV ENSG00000110321:ENST00000531180:exon2:c.G87A:p.P29P,ENSG00000110321:ENST00000396525:exon15:c.G1458A:p.P486P,ENSG00000110321:ENST00000525681:exon15:c.G1572A:p.P524P,ENSG00000110321:ENST00000339995:exon16:c.G1572A:p.P524P,ENSG00000110321:ENST00000526148:exon16:c.G1572A:p.P524P Score=671;Name=lod=708 NA 11p15.3 NA NA NA NA rs7951708 0.99 0.99 0.991 0.988818 1 1 1 0.9576 1 1 1 1 0.97 0.9973 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484609 NA NA 1 0.967515 NA 1 NA 3.6693666 1293 4 10502937 10502937 T G exonic CLNK NA synonymous SNV CLNK:NM_052964:exon18:c.A1083C:p.I361I exonic ENSG00000109684 NA synonymous SNV ENSG00000109684:ENST00000515667:exon4:c.A297C:p.I99I,ENSG00000109684:ENST00000226951:exon18:c.A1083C:p.I361I Score=573;Name=lod=283 NA 4p16.1 NA NA NA NA rs2903960 0.99 0.99 0.983 0.990016 1 1 0.9986 0.9629 1 1 1 1 0.96 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 1.227761 NA NA 0.999757 0.973181 NA 0.978 NA 3.6693096 1293 11 26702664 26702664 C T exonic SLC5A12 NA synonymous SNV SLC5A12:NM_178498:exon12:c.G1413A:p.L471L exonic ENSG00000148942 NA synonymous SNV ENSG00000148942:ENST00000396005:exon12:c.G1413A:p.L471L Score=361;Name=lod=39 NA 11p14.2 NA NA NA NA rs10734383 0.99 0.99 0.993 0.991214 1 1 0.9971 0.9682 1 1 1 1 0.97 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 0.776267 NA NA 0.999879 0.972164 NA 1 NA 3.6692876 1293 12 56236531 56236531 A G exonic MMP19 NA synonymous SNV MMP19:NM_001272101:exon1:c.T84C:p.P28P,MMP19:NM_002429:exon1:c.T84C:p.P28P exonic ENSG00000123342 NA synonymous SNV ENSG00000123342:ENST00000322569:exon1:c.T84C:p.P28P,ENSG00000123342:ENST00000409200:exon1:c.T84C:p.P28P,ENSG00000123342:ENST00000548629:exon1:c.T84C:p.P28P,ENSG00000123342:ENST00000548882:exon1:c.T84C:p.P28P,ENSG00000123342:ENST00000552763:exon1:c.T84C:p.P28P,ENSG00000123342:ENST00000552872:exon1:c.T84C:p.P28P NA NA 12q13.2 NA Name=Pol2,CTCF NA NA rs7294345 1 1 0.996 0.992412 1 1 0.9971 0.9728 1 1 1 1 0.99 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 -0.665587 NA NA 0.999884 0.973445 NA 1 NA 3.6692826 1293 18 21710321 21710321 C T exonic TTC39C NA synonymous SNV TTC39C:NM_001135993:exon12:c.C1563T:p.N521N,TTC39C:NM_153211:exon12:c.C1380T:p.N460N exonic ENSG00000168234 NA synonymous SNV ENSG00000168234:ENST00000540918:exon7:c.C642T:p.N214N,ENSG00000168234:ENST00000304621:exon12:c.C1380T:p.N460N,ENSG00000168234:ENST00000317571:exon12:c.C1563T:p.N521N Score=433;Name=lod=77 NA 18q11.2 NA NA NA NA rs12970083 0.99 0.99 0.996 0.991613 1 1 0.9957 0.9705 1 1 1 0.99 0.98 0.9974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.558665 NA NA 1 0.976158 NA 0.891 NA 3.6692666 1293 10 98078127 98078127 C T exonic DNTT NA synonymous SNV DNTT:NM_001017520:exon2:c.C222T:p.I74I,DNTT:NM_004088:exon2:c.C222T:p.I74I exonic ENSG00000107447 NA synonymous SNV ENSG00000107447:ENST00000371174:exon2:c.C222T:p.I74I,ENSG00000107447:ENST00000419175:exon2:c.C222T:p.I74I Score=493;Name=lod=134 NA 10q24.1 NA NA NA NA rs7081385 0.99 0.99 0.989 0.992812 1 1 0.9986 0.9735 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 0.98263 NA NA 0.999884 0.972764 NA 1 NA 3.6691826 1293 11 862652 862652 T C exonic TSPAN4 NA synonymous SNV TSPAN4:NM_001025238:exon3:c.T166C:p.L56L,TSPAN4:NM_001025234:exon4:c.T166C:p.L56L,TSPAN4:NM_001025235:exon4:c.T166C:p.L56L,TSPAN4:NM_001025236:exon4:c.T166C:p.L56L,TSPAN4:NM_001025237:exon4:c.T166C:p.L56L,TSPAN4:NM_003271:exon4:c.T166C:p.L56L exonic ENSG00000214063 NA synonymous SNV ENSG00000214063:ENST00000527644:exon2:c.T166C:p.L56L,ENSG00000214063:ENST00000346501:exon3:c.T166C:p.L56L,ENSG00000214063:ENST00000397411:exon3:c.T166C:p.L56L,ENSG00000214063:ENST00000409531:exon3:c.T223C:p.L75L,ENSG00000214063:ENST00000409543:exon3:c.T166C:p.L56L,ENSG00000214063:ENST00000397397:exon4:c.T166C:p.L56L,ENSG00000214063:ENST00000397404:exon4:c.T166C:p.L56L,ENSG00000214063:ENST00000397406:exon4:c.T166C:p.L56L,ENSG00000214063:ENST00000397408:exon4:c.T166C:p.L56L,ENSG00000214063:ENST00000530404:exon4:c.T166C:p.L56L Score=503;Name=lod=147 NA 11p15.5 NA NA NA NA rs28505621 0.99 0.99 0.989 0.991613 1 1 0.9971 0.9697 1 1 1 0.99 0.98 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 1.363721 1.363721 NA 0.999884 0.978212 NA 0.993 NA 3.6691826 1293 18 33785185 33785185 A G exonic MOCOS NA synonymous SNV MOCOS:NM_017947:exon6:c.A1164G:p.P388P exonic ENSG00000075643 NA synonymous SNV ENSG00000075643:ENST00000261326:exon6:c.A1164G:p.P388P NA NA 18q12.2 Score=884;Name=V$CDP_01 NA NA NA rs667667 0.99 0.99 0.989 0.992812 1 1 0.9986 0.9743 0.999 1 1 1 0.98 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 -0.860509 NA NA 0.999884 0.974126 NA 0.768 NA 3.6691826 1293 17 58824567 58824567 T C exonic BCAS3 NA synonymous SNV BCAS3:NM_001099432:exon6:c.T330C:p.G110G,BCAS3:NM_017679:exon6:c.T330C:p.G110G exonic ENSG00000141376 NA synonymous SNV ENSG00000141376:ENST00000408905:exon5:c.T330C:p.G110G,ENSG00000141376:ENST00000588462:exon5:c.T330C:p.G110G,ENSG00000141376:ENST00000390652:exon6:c.T330C:p.G110G,ENSG00000141376:ENST00000407086:exon6:c.T330C:p.G110G,ENSG00000141376:ENST00000588168:exon6:c.T330C:p.G110G,ENSG00000141376:ENST00000589222:exon6:c.T330C:p.G110G Score=584;Name=lod=315 NA 17q23.2 NA NA NA NA rs7501675 0.99 0.99 0.994 0.993411 1 1 0.9971 0.9766 1 1 1 0.99 0.98 0.998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.164079 NA NA 0.999511 0.982442 NA 1 NA 3.6691556 1293 7 135095270 135095270 A G exonic CNOT4 NA synonymous SNV CNOT4:NM_001190847:exon7:c.T816C:p.Y272Y,CNOT4:NM_001190848:exon7:c.T816C:p.Y272Y,CNOT4:NM_001190850:exon7:c.T816C:p.Y272Y exonic ENSG00000080802 NA synonymous SNV ENSG00000080802:ENST00000414802:exon6:c.T816C:p.Y272Y,ENSG00000080802:ENST00000315544:exon7:c.T816C:p.Y272Y,ENSG00000080802:ENST00000356162:exon7:c.T816C:p.Y272Y,ENSG00000080802:ENST00000423368:exon7:c.T816C:p.Y272Y,ENSG00000080802:ENST00000541284:exon7:c.T816C:p.Y272Y Score=504;Name=lod=149 NA 7q33 NA NA NA NA rs2696877 1 1 1 0.9998 0.999 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 1.855473 1.855473 NA 0.999023 1 NA 0.891 NA 3.6691436 1293 1 103354115 103354115 T C intronic COL11A1 NA NA NA intronic ENSG00000060718 NA NA NA NA NA 1p21.1 NA NA NA NA rs17127203 0.14 0.14 0.155 0.173522 0.0885 0.245 0.0807 0.1649 0.2648 0.09 0.23 0.09 0.16 0.1354 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301087 NA NA 0.106977 0.170222 NA 0.123 NA 3.669123 1293 4 69203551 69203551 A T exonic YTHDC1 NA synonymous SNV YTHDC1:NM_001031732:exon3:c.T198A:p.S66S,YTHDC1:NM_133370:exon3:c.T198A:p.S66S exonic ENSG00000083896 NA synonymous SNV ENSG00000083896:ENST00000505251:exon2:c.T45A:p.S15S,ENSG00000083896:ENST00000344157:exon3:c.T198A:p.S66S,ENSG00000083896:ENST00000355665:exon3:c.T198A:p.S66S,ENSG00000083896:ENST00000579690:exon3:c.T198A:p.S66S Score=623;Name=lod=453 NA 4q13.2 NA NA NA NA rs10213623 0.99 0.99 0.996 0.99401 1 1 0.9957 0.9796 1 1 1 1 0.98 0.9978 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.852438 NA NA 0.999767 0.977531 NA 0.986 NA 3.6690996 1293 6 158924088 158924088 T C exonic TULP4 NA synonymous SNV TULP4:NM_020245:exon13:c.T3393C:p.D1131D exonic ENSG00000130338 NA synonymous SNV ENSG00000130338:ENST00000367097:exon13:c.T3393C:p.D1131D NA NA 6q25.3 Score=770;Name=V$PAX2_01 NA NA NA rs914690 1 1 1 0.9998 0.999 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 -0.18653 NA NA 0.99907 1 NA 1 NA 3.6690966 1293 2 170605981 170605981 C T exonic KLHL23,PHOSPHO2-KLHL23 NA synonymous SNV KLHL23:NM_144711:exon4:c.C1416T:p.G472G,PHOSPHO2-KLHL23:NM_001199290:exon6:c.C1416T:p.G472G exonic ENSG00000213160 NA synonymous SNV ENSG00000213160:ENST00000392647:exon4:c.C1416T:p.G472G,ENSG00000213160:ENST00000272797:exon6:c.C1416T:p.G472G Score=670;Name=lod=706 NA 2q31.1 NA NA NA NA rs4667607 0.99 0.99 0.994 0.992412 1 1 0.9986 0.972 1 1 1 1 0.98 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 1.097975 NA NA 1 0.973672 NA 0.986 NA 3.6690666 1293 19 30097268 30097268 C G intronic POP4 NA NA NA UTR5 ENSG00000105171 ENST00000590688:c.-35C>G NA NA NA NA 19q12 NA Name=Sin3Ak-20,eGFP-JunD,E2F4,SRF,SP1,YY1_(C-20),JunD,ZNF263,GTF2F1_(RAP-74),YY1,CCNT2,TBP,TCF12,HA-E2F1,CHD2_(N-1250),USF2,Pol2,USF-1,GRp20,HEY1,ELF1_(SC-631),Pol2-4H8,GABP,RFX5_(N-494),TAF1,c-Jun,NFKB NA NA rs2303754 0.57 0.57 0.555 0.563099 0.4732 0.7341 0.5375 0.4932 0.592 0.48 0.78 0.52 0.49 0.5415 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 0.267353 NA NA 0.482907 0.480463 NA 0.457 NA 3.6690597 1293 1 236746443 236746443 C T exonic HEATR1 NA synonymous SNV HEATR1:NM_018072:exon18:c.G2295A:p.V765V exonic ENSG00000119285 NA synonymous SNV ENSG00000119285:ENST00000366581:exon18:c.G2295A:p.V765V,ENSG00000119285:ENST00000366582:exon18:c.G2295A:p.V765V NA NA 1q43 NA NA NA NA rs2794768 0.58 0.58 0.544 0.51857 0.6849 0.6518 0.5922 0.3003 0.453 0.68 0.65 0.59 0.32 0.6237 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 -1.115219 NA NA 0.68907 0.367907 NA 0.609 NA 3.6689966 1293 10 71657272 71657272 A G exonic COL13A1 NA synonymous SNV COL13A1:NM_080805:exon11:c.A612G:p.Q204Q,COL13A1:NM_001130103:exon13:c.A699G:p.Q233Q,COL13A1:NM_080801:exon13:c.A699G:p.Q233Q,COL13A1:NM_080802:exon13:c.A699G:p.Q233Q exonic ENSG00000197467 NA synonymous SNV ENSG00000197467:ENST00000398964:exon10:c.A612G:p.Q204Q,ENSG00000197467:ENST00000398974:exon11:c.A663G:p.Q221Q,ENSG00000197467:ENST00000520133:exon11:c.A612G:p.Q204Q,ENSG00000197467:ENST00000356340:exon12:c.A699G:p.Q233Q,ENSG00000197467:ENST00000398966:exon12:c.A699G:p.Q233Q,ENSG00000197467:ENST00000398971:exon12:c.A699G:p.Q233Q,ENSG00000197467:ENST00000354547:exon13:c.A699G:p.Q233Q,ENSG00000197467:ENST00000357811:exon13:c.A699G:p.Q233Q,ENSG00000197467:ENST00000398972:exon13:c.A699G:p.Q233Q,ENSG00000197467:ENST00000398973:exon13:c.A699G:p.Q233Q,ENSG00000197467:ENST00000398978:exon13:c.A699G:p.Q233Q,ENSG00000197467:ENST00000517713:exon13:c.A699G:p.Q233Q,ENSG00000197467:ENST00000479733:exon14:c.A726G:p.Q242Q Score=523;Name=lod=178 NA 10q22.1 NA NA NA NA rs1227746 1 1 0.999 0.995407 0.999 1 0.9971 0.9849 1 1 1 0.99 0.98 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.899621 NA NA 1 0.988189 NA 0.971 NA 3.6689666 1293 14 21238318 21238318 G A exonic EDDM3B NA synonymous SNV EDDM3B:NM_022360:exon2:c.G9A:p.S3S exonic ENSG00000181552 NA synonymous SNV ENSG00000181552:ENST00000326783:exon2:c.G9A:p.S3S NA NA 14q11.2 NA NA NA NA rs3827905 0.57 0.57 0.539 0.552117 0.6948 0.7262 0.5461 0.1929 0.7157 0.7 0.7 0.59 0.22 0.6426 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 -0.863017 NA NA 0.660349 0.287562 NA 0.543 NA 3.6689176 1293 10 12940455 12940455 A G exonic CCDC3 NA synonymous SNV CCDC3:NM_031455:exon3:c.T774C:p.N258N exonic ENSG00000151468 NA synonymous SNV ENSG00000151468:ENST00000378825:exon3:c.T774C:p.N258N,ENSG00000151468:ENST00000378839:exon7:c.T399C:p.N133N Score=289;Name=lod=20 NA 10p13 NA NA NA NA rs10906249 0.99 0.99 0.991 0.991414 1 1 0.9971 0.969 1 1 1 1 0.97 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 -0.60072 NA NA 0.999883 0.974106 NA 0.978 NA 3.6688836 1293 1 160141196 160141196 C T exonic ATP1A4 NA synonymous SNV ATP1A4:NM_144699:exon11:c.C1647T:p.Y549Y exonic ENSG00000132681 NA synonymous SNV ENSG00000132681:ENST00000368081:exon11:c.C1647T:p.Y549Y Score=449;Name=lod=89 NA 1q23.2 NA NA NA NA rs625549 0.99 0.99 0.994 0.993011 1 1 0.9957 0.9758 1 1 1 1 0.98 0.9978 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.274685 NA NA 1 0.976169 NA 0.993 NA 3.6688666 1293 18 55364852 55364852 A G exonic ATP8B1 NA synonymous SNV ATP8B1:NM_005603:exon8:c.T696C:p.D232D exonic ENSG00000081923 NA synonymous SNV ENSG00000081923:ENST00000283684:exon7:c.T696C:p.D232D,ENSG00000081923:ENST00000536015:exon8:c.T696C:p.D232D Score=440;Name=lod=82 NA 18q21.31 NA NA NA NA rs319438 1 1 0.994 0.994609 1 1 0.9986 0.9803 1 1 1 1 0.98 0.998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.890466 1.890466 NA 0.999884 0.9798 NA 0.942 NA 3.6687826 1293 3 129218944 129218944 G T intronic IFT122 NA NA NA intronic ENSG00000163913 NA NA NA NA NA 3q22.1 NA NA NA NA rs6799876 0.12 0.12 0.115 0.166733 0.1103 0.0903 0.0879 0.2352 0.2669 0.09 0.08 0.1 0.22 0.1215 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.079616 NA NA 0.099419 0.203586 NA 0.319 NA 3.668781 1293 1 16725818 16725818 A G intronic SPATA21 NA NA NA intronic ENSG00000187144 NA NA NA NA NA 1p36.13 NA NA NA NA rs41310375 0.09 0.09 0.09 0.0788738 0.1074 0.001 0.0764 0.1513 0.0337 0.1 0.0017 0.1 0.18 0.1006 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894187 NA NA 0.123256 0.143895 NA 0.203 NA 3.668744 1293 4 104000922 104000922 T C intronic BDH2 NA NA NA intronic ENSG00000164038,ENSG00000164039 NA NA NA NA NA 4q24 NA NA NA NA rs12508269 0.1 0.1 0.093 0.11881 0.1074 0.1567 0.1354 0.0061 0.2321 0.11 0.13 0.13 0.002 0.1168 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.430903 2.430903 NA 0.107093 0.022923 NA 0.065 NA 3.668707 1293 10 51820695 51820695 A G ncRNA_intronic FLJ31813 NA NA NA ncRNA_intronic ENSG00000235618 NA NA NA NA NA 10q11.23 NA NA NA NA rs28545419 0.91 0.91 0.896 0.905551 0.998 0.9752 0.9683 0.6831 0.9949 1 0.98 0.96 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 -0.21793 NA NA NA NA NA 0.036 NA 3.6686666 1293 10 51820704 51820704 T C ncRNA_intronic FLJ31813 NA NA NA ncRNA_intronic ENSG00000235618 NA NA NA NA NA 10q11.23 NA NA NA NA rs3964871 0.91 0.91 0.889 0.905551 0.998 0.9742 0.9683 0.6838 0.9949 1 0.98 0.96 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 -0.729275 NA NA NA NA NA 0.036 NA 3.6686666 1293 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 1293 4 144467104 144467104 T C exonic SMARCA5 NA synonymous SNV SMARCA5:NM_003601:exon19:c.T2424C:p.N808N exonic ENSG00000153147 NA synonymous SNV ENSG00000153147:ENST00000283131:exon19:c.T2424C:p.N808N Score=669;Name=lod=699 NA 4q31.21 NA NA NA NA rs13139128 1 1 0.995 0.990415 1 1 0.9986 0.9644 1 1 1 1 0.98 0.9982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.715426 NA NA 1 0.983432 NA 0.957 NA 3.6684666 1293 17 1384066 1384066 A G exonic MYO1C NA synonymous SNV MYO1C:NM_001080779:exon6:c.T741C:p.G247G,MYO1C:NM_001080950:exon6:c.T684C:p.G228G,MYO1C:NM_033375:exon6:c.T636C:p.G212G exonic ENSG00000197879 NA synonymous SNV ENSG00000197879:ENST00000359786:exon6:c.T741C:p.G247G,ENSG00000197879:ENST00000361007:exon6:c.T636C:p.G212G,ENSG00000197879:ENST00000438665:exon6:c.T684C:p.G228G,ENSG00000197879:ENST00000545534:exon6:c.T669C:p.G223G,ENSG00000197879:ENST00000570984:exon6:c.T636C:p.G212G,ENSG00000197879:ENST00000575158:exon6:c.T636C:p.G212G NA NA 17p13.3 Score=875;Name=V$MZF1_02 NA NA NA rs4790518 1 1 1 0.994409 1 0.9732 1 1 0.999 1 0.98 1 1 0.9982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.208981 NA NA 1 0.999773 NA 1 NA 3.6684666 1293 5 72419410 72419410 A G exonic TMEM171 NA synonymous SNV TMEM171:NM_001161342:exon2:c.A210G:p.G70G,TMEM171:NM_173490:exon2:c.A210G:p.G70G exonic ENSG00000157111 NA synonymous SNV ENSG00000157111:ENST00000287773:exon2:c.A210G:p.G70G,ENSG00000157111:ENST00000454765:exon2:c.A210G:p.G70G NA NA 5q13.2 NA NA Name=4 NA rs7731777 1 1 1 0.9998 0.999 1 1 1 1 1 1 1 1 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.6203 NA NA 0.999535 1 NA 1 NA 3.6684316 1293 9 91656963 91656963 T C exonic SHC3 NA synonymous SNV SHC3:NM_016848:exon10:c.A1338G:p.P446P exonic ENSG00000148082 NA synonymous SNV ENSG00000148082:ENST00000375835:exon10:c.A1338G:p.P446P NA NA 9q22.1 NA NA NA NA rs3750399 0.78 0.78 0.78 0.791534 0.6312 0.9881 0.768 0.7958 0.7648 0.64 0.99 0.73 0.78 0.7082 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 0.248591 NA NA 0.658837 0.770767 NA 0.746 NA 3.6684296 1293 4 76809386 76809386 A G exonic PPEF2 NA synonymous SNV PPEF2:NM_006239:exon6:c.T513C:p.S171S exonic ENSG00000156194 NA synonymous SNV ENSG00000156194:ENST00000286719:exon6:c.T513C:p.S171S Score=500;Name=lod=144 NA 4q21.1 NA NA NA NA rs7691755 1 1 0.996 0.995008 1 1 0.9986 0.9826 0.999 1 1 1 0.98 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 0.54586 NA NA 0.999767 0.986382 NA 0.986 NA 3.6683996 1293 6 43154091 43154091 C G exonic CUL9 NA synonymous SNV CUL9:NM_015089:exon4:c.C1149G:p.L383L exonic ENSG00000112659 NA synonymous SNV ENSG00000112659:ENST00000252050:exon4:c.C1149G:p.L383L,ENSG00000112659:ENST00000354495:exon4:c.C1149G:p.L383L,ENSG00000112659:ENST00000372647:exon4:c.C1149G:p.L383L Score=428;Name=lod=73 NA 6p21.1 NA NA NA NA rs941849 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.390972 NA NA 0.999186 0.999773 NA 1 NA 3.6683806 1293 22 23055539 23055539 G T intergenic GGTLC2,MIR650 dist=65171;dist=109731 NA NA exonic ENSG00000211662 NA nonsynonymous SNV ENSG00000211662:ENST00000390308:exon3:c.G202T:p.D68Y NA NA 22q11.22 NA NA NA NA rs1985791 0.49 0.49 0.485 0.446685 0.3966 0.7391 0.3775 0.3298 0.4039 0.42 0.77 0.4 0.36 0.4021 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 -0.925616 NA 0.12 0.366407 0.330486 NA 0.145 NA 3.6682264 1293 12 54799450 54799450 A G exonic ITGA5 NA synonymous SNV ITGA5:NM_002205:exon11:c.T1014C:p.D338D exonic ENSG00000161638 NA synonymous SNV ENSG00000161638:ENST00000293379:exon11:c.T1014C:p.D338D NA NA 12q13.13 Score=940;Name=V$GATA1_01 NA NA NA rs1249378 1 1 0.999 0.995607 1 1 0.9986 0.9841 1 1 1 1 0.99 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.152638 NA NA 0.999767 0.985247 NA 0.986 NA 3.6681996 1293 17 1640640 1640640 C G intronic WDR81 NA NA NA ncRNA_intronic ENSG00000262791 NA NA NA NA NA 17p13.3 NA NA NA NA rs62090051 0.2 0.2 0.193 0.244808 0.1998 0.1865 0.2075 0.2413 0.3824 0.19 0.19 0.2 0.23 0.2567 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.919775 NA NA 0.208663 0.235441 NA 0.21 NA 3.6681703 1293 1 236748505 236748505 T C exonic HEATR1 NA synonymous SNV HEATR1:NM_018072:exon17:c.A2061G:p.L687L exonic ENSG00000119285 NA synonymous SNV ENSG00000119285:ENST00000366581:exon17:c.A2061G:p.L687L,ENSG00000119285:ENST00000366582:exon17:c.A2061G:p.L687L NA NA 1q43 NA NA NA NA rs1006456 0.58 0.58 0.544 0.51857 0.6849 0.6518 0.5922 0.3003 0.453 0.68 0.65 0.59 0.32 0.6248 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 -0.328731 NA NA 0.688837 0.368134 NA 0.609 NA 3.6681296 1293 6 49409737 49409737 T C intronic MUT NA NA NA intronic ENSG00000146085 NA NA NA NA NA 6p12.3 NA NA NA NA rs9473557 0.31 0.31 0.302 0.328874 0.332 0.2083 0.2277 0.4024 0.4223 0.37 0.2 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 -0.996743 NA NA NA NA NA 0.246 NA 3.668 1293 8 141572498 141572498 G A intronic AGO2 NA NA NA intronic ENSG00000123908 NA NA NA NA NA 8q24.3 NA NA NA NA rs2292773 0.43 0.43 0.423 0.488219 0.332 0.6815 0.572 0.4062 0.501 0.31 0.61 0.47 0.37 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 -0.593008 NA NA NA NA NA NA NA 3.668 1293 2 219144815 219144815 T C exonic TMBIM1 NA synonymous SNV TMBIM1:NM_022152:exon3:c.A237G:p.A79A exonic ENSG00000135926 NA synonymous SNV ENSG00000135926:ENST00000425694:exon2:c.A237G:p.A79A,ENSG00000135926:ENST00000439306:exon2:c.A237G:p.A79A,ENSG00000135926:ENST00000258412:exon3:c.A237G:p.A79A,ENSG00000135926:ENST00000396809:exon3:c.A237G:p.A79A,ENSG00000135926:ENST00000418569:exon3:c.A237G:p.A79A,ENSG00000135926:ENST00000429501:exon3:c.A237G:p.A79A,ENSG00000135926:ENST00000437694:exon3:c.A237G:p.A79A,ENSG00000135926:ENST00000453776:exon3:c.A237G:p.A79A,ENSG00000135926:ENST00000440422:exon4:c.A237G:p.A79A,ENSG00000135926:ENST00000444000:exon4:c.A237G:p.A79A,ENSG00000135926:ENST00000444183:exon4:c.A237G:p.A79A,ENSG00000135926:ENST00000444881:exon4:c.A237G:p.A79A,ENSG00000135926:ENST00000453281:exon4:c.A237G:p.A79A Score=381;Name=lod=47 NA 2q35 NA NA NA NA rs2045435 0.99 0.99 0.986 0.993411 1 1 1 0.975 1 1 1 1 0.95 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.335046 1.335046 NA 1 0.989106 NA 1 NA 3.6679666 1293 11 47331116 47331116 T C exonic MADD NA synonymous SNV MADD:NM_001135943:exon25:c.T3802C:p.L1268L,MADD:NM_001135944:exon25:c.T3793C:p.L1265L,MADD:NM_130470:exon25:c.T3934C:p.L1312L,MADD:NM_130472:exon25:c.T3805C:p.L1269L,MADD:NM_130474:exon25:c.T3805C:p.L1269L,MADD:NM_130476:exon25:c.T3931C:p.L1311L,MADD:NM_130471:exon26:c.T3865C:p.L1289L,MADD:NM_130473:exon26:c.T3994C:p.L1332L,MADD:NM_003682:exon28:c.T4111C:p.L1371L,MADD:NM_130475:exon28:c.T4111C:p.L1371L exonic ENSG00000110514 NA synonymous SNV ENSG00000110514:ENST00000405573:exon8:c.T541C:p.L181L,ENSG00000110514:ENST00000342922:exon25:c.T3934C:p.L1312L,ENSG00000110514:ENST00000395344:exon25:c.T3793C:p.L1265L,ENSG00000110514:ENST00000402192:exon25:c.T3931C:p.L1311L,ENSG00000110514:ENST00000402799:exon25:c.T3805C:p.L1269L,ENSG00000110514:ENST00000406482:exon25:c.T3805C:p.L1269L,ENSG00000110514:ENST00000349238:exon26:c.T3994C:p.L1332L,ENSG00000110514:ENST00000407859:exon26:c.T3865C:p.L1289L,ENSG00000110514:ENST00000311027:exon28:c.T4111C:p.L1371L,ENSG00000110514:ENST00000395336:exon28:c.T4111C:p.L1371L Score=596;Name=lod=354 NA 11p11.2 NA NA NA NA rs1017594 1 1 0.996 0.99381 1 1 0.9986 0.9773 1 1 1 1 0.99 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.619349 NA NA 1 0.985461 NA 0.993 NA 3.6679666 1293 16 11940390 11940390 T C exonic RSL1D1 NA synonymous SNV RSL1D1:NM_015659:exon5:c.A603G:p.T201T exonic ENSG00000171490 NA synonymous SNV ENSG00000171490:ENST00000355674:exon5:c.A603G:p.T201T,ENSG00000171490:ENST00000571133:exon5:c.A603G:p.T201T NA NA 16p13.13 NA NA NA NA rs8052900 0.68 0.68 0.684 0.703474 0.6551 0.4355 0.7983 0.9788 0.59 0.66 0.4 0.77 0.97 0.6791 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 0.511099 NA NA 0.664535 0.929449 ID=COSM148023;OCCURENCE=1(stomach) 0.688 NA 3.6679316 1293 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 1293 11 20639400 20639400 A G exonic SLC6A5 NA synonymous SNV SLC6A5:NM_004211:exon7:c.A1230G:p.S410S exonic ENSG00000165970 NA synonymous SNV ENSG00000165970:ENST00000525748:exon7:c.A1230G:p.S410S Score=571;Name=lod=279 NA 11p15.1 NA NA NA NA rs7925597 1 1 0.997 0.997404 1 1 1 0.9902 1 1 1 1 0.99 0.9989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.527437 NA NA 0.999884 0.985474 NA 1 NA 3.6678826 1293 20 13029764 13029764 A C exonic SPTLC3 NA synonymous SNV SPTLC3:NM_018327:exon2:c.A289C:p.R97R exonic ENSG00000172296 NA synonymous SNV ENSG00000172296:ENST00000378194:exon2:c.A289C:p.R97R,ENSG00000172296:ENST00000399002:exon2:c.A289C:p.R97R,ENSG00000172296:ENST00000450297:exon2:c.A208C:p.R70R,ENSG00000172296:ENST00000434210:exon3:c.A289C:p.R97R Score=467;Name=lod=105 NA 20p12.1 NA NA NA NA rs1431433 1 1 0.995 0.995607 1 1 0.9986 0.9841 1 1 1 1 0.99 0.9989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726811 NA NA 0.999884 0.986382 NA 0.993 NA 3.6678826 1293 9 37441808 37441808 A G exonic ZBTB5 NA synonymous SNV ZBTB5:NM_014872:exon2:c.T741C:p.D247D exonic ENSG00000168795 NA synonymous SNV ENSG00000168795:ENST00000307750:exon2:c.T741C:p.D247D NA NA 9p13.2 Score=756;Name=V$LUN1_01 NA NA NA rs309450 1 1 0.995 0.998203 1 1 0.9986 0.9939 1 1 1 1 0.99 0.9988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.219013 NA NA 1 0.985474 NA 1 NA 3.6678666 1293 10 104136469 104136469 T C exonic GBF1 NA synonymous SNV GBF1:NM_001199378:exon32:c.T4200C:p.I1400I,GBF1:NM_001199379:exon32:c.T4197C:p.I1399I,GBF1:NM_004193:exon32:c.T4197C:p.I1399I exonic ENSG00000107862 NA synonymous SNV ENSG00000107862:ENST00000369983:exon32:c.T4197C:p.I1399I NA NA 10q24.32 Score=859;Name=V$SOX9_B1 NA NA NA rs2180707 1 1 1 0.995807 1 1 0.9971 0.9856 1 1 1 1 0.99 0.9988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.381127 NA NA 1 0.986836 NA 0.993 NA 3.6678666 1293 17 47888852 47888852 A G exonic KAT7 NA synonymous SNV KAT7:NM_001199158:exon4:c.A261G:p.R87R,KAT7:NM_001199156:exon5:c.A351G:p.R117R,KAT7:NM_001199157:exon5:c.A438G:p.R146R,KAT7:NM_001199155:exon6:c.A678G:p.R226R,KAT7:NM_007067:exon7:c.A768G:p.R256R exonic ENSG00000136504 NA synonymous SNV ENSG00000136504:ENST00000510819:exon4:c.A261G:p.R87R,ENSG00000136504:ENST00000454930:exon5:c.A351G:p.R117R,ENSG00000136504:ENST00000509773:exon5:c.A438G:p.R146R,ENSG00000136504:ENST00000424009:exon6:c.A678G:p.R226R,ENSG00000136504:ENST00000435742:exon6:c.A210G:p.R70R,ENSG00000136504:ENST00000259021:exon7:c.A768G:p.R256R,ENSG00000136504:ENST00000503935:exon7:c.A300G:p.R100R Score=541;Name=lod=211 NA 17q21.33 NA NA NA NA rs4462645 1 1 0.997 0.997204 1 0.999 0.9986 0.9909 1 1 1 1 0.99 0.9988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.094616 NA NA 1 0.986382 NA 1 NA 3.6678666 1293 4 83788344 83788344 A T exonic SEC31A NA synonymous SNV SEC31A:NM_001191049:exon8:c.T993A:p.G331G,SEC31A:NM_001077206:exon9:c.T1008A:p.G336G,SEC31A:NM_001077207:exon9:c.T1008A:p.G336G,SEC31A:NM_001077208:exon9:c.T1008A:p.G336G,SEC31A:NM_014933:exon9:c.T1008A:p.G336G,SEC31A:NM_016211:exon9:c.T1008A:p.G336G exonic ENSG00000138674 NA synonymous SNV ENSG00000138674:ENST00000264405:exon3:c.T324A:p.G108G,ENSG00000138674:ENST00000443462:exon8:c.T993A:p.G331G,ENSG00000138674:ENST00000500777:exon8:c.T1008A:p.G336G,ENSG00000138674:ENST00000505472:exon8:c.T1008A:p.G336G,ENSG00000138674:ENST00000311785:exon9:c.T1008A:p.G336G,ENSG00000138674:ENST00000326950:exon9:c.T1008A:p.G336G,ENSG00000138674:ENST00000348405:exon9:c.T1008A:p.G336G,ENSG00000138674:ENST00000395310:exon9:c.T1008A:p.G336G,ENSG00000138674:ENST00000432794:exon9:c.T1008A:p.G336G,ENSG00000138674:ENST00000448323:exon9:c.T1008A:p.G336G,ENSG00000138674:ENST00000505984:exon9:c.T1008A:p.G336G,ENSG00000138674:ENST00000508479:exon9:c.T1008A:p.G336G,ENSG00000138674:ENST00000508502:exon9:c.T1008A:p.G336G,ENSG00000138674:ENST00000509142:exon9:c.T1008A:p.G336G,ENSG00000138674:ENST00000513858:exon9:c.T1008A:p.G336G,ENSG00000138674:ENST00000355196:exon11:c.T1008A:p.G336G Score=544;Name=lod=217 NA 4q21.22 NA NA NA NA rs2045478 1 1 0.999 0.996805 1 1 1 0.9879 1 1 1 1 1 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 0.978021 NA NA 0.999884 0.990468 NA 1 NA 3.6677826 1293 4 83900043 83900043 A G exonic LIN54 NA synonymous SNV LIN54:NM_001115007:exon3:c.T138C:p.V46V,LIN54:NM_001115008:exon3:c.T138C:p.V46V,LIN54:NM_194282:exon3:c.T801C:p.V267V exonic ENSG00000189308 NA synonymous SNV ENSG00000189308:ENST00000340417:exon3:c.T801C:p.V267V,ENSG00000189308:ENST00000442461:exon3:c.T138C:p.V46V,ENSG00000189308:ENST00000446851:exon3:c.T138C:p.V46V,ENSG00000189308:ENST00000505397:exon3:c.T801C:p.V267V,ENSG00000189308:ENST00000510557:exon3:c.T138C:p.V46V,ENSG00000189308:ENST00000510877:exon3:c.T138C:p.V46V Score=677;Name=lod=755 NA 4q21.22 NA NA NA NA rs6535422 1 1 0.999 0.996805 1 1 1 0.9879 1 1 1 1 1 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 -0.517416 NA NA 0.999884 0.990468 NA 1 NA 3.6677826 1293 3 134323156 134323156 A G exonic KY NA synonymous SNV KY:NM_178554:exon11:c.T1251C:p.F417F exonic ENSG00000174611 NA synonymous SNV ENSG00000174611:ENST00000508956:exon10:c.T1188C:p.F396F,ENSG00000174611:ENST00000423778:exon11:c.T1251C:p.F417F NA NA 3q22.2 Score=742;Name=V$PPARA_01 NA NA NA rs4955535 1 1 0.998 0.996006 1 1 0.9986 0.9856 1 1 1 1 0.99 0.9989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034255 NA NA 1 0.988931 NA 1 NA 3.6677666 1293 11 27679662 27679662 T C exonic BDNF NA synonymous SNV BDNF:NM_170735:exon1:c.A450G:p.A150A,BDNF:NM_001143805:exon2:c.A450G:p.A150A,BDNF:NM_001143806:exon2:c.A450G:p.A150A,BDNF:NM_001143807:exon2:c.A450G:p.A150A,BDNF:NM_001143808:exon2:c.A450G:p.A150A,BDNF:NM_001143809:exon2:c.A537G:p.A179A,BDNF:NM_001143812:exon2:c.A450G:p.A150A,BDNF:NM_001143813:exon2:c.A450G:p.A150A,BDNF:NM_001143816:exon2:c.A450G:p.A150A,BDNF:NM_001709:exon2:c.A450G:p.A150A,BDNF:NM_170731:exon2:c.A474G:p.A158A,BDNF:NM_170732:exon2:c.A450G:p.A150A,BDNF:NM_170733:exon2:c.A450G:p.A150A,BDNF:NM_170734:exon2:c.A495G:p.A165A,BDNF:NM_001143810:exon3:c.A696G:p.A232A,BDNF:NM_001143814:exon3:c.A450G:p.A150A,BDNF:NM_001143811:exon4:c.A450G:p.A150A exonic ENSG00000176697 NA synonymous SNV ENSG00000176697:ENST00000525528:exon1:c.A450G:p.A150A,ENSG00000176697:ENST00000314915:exon2:c.A474G:p.A158A,ENSG00000176697:ENST00000356660:exon2:c.A450G:p.A150A,ENSG00000176697:ENST00000395978:exon2:c.A450G:p.A150A,ENSG00000176697:ENST00000395980:exon2:c.A450G:p.A150A,ENSG00000176697:ENST00000395981:exon2:c.A450G:p.A150A,ENSG00000176697:ENST00000395983:exon2:c.A450G:p.A150A,ENSG00000176697:ENST00000395986:exon2:c.A495G:p.A165A,ENSG00000176697:ENST00000439476:exon2:c.A450G:p.A150A,ENSG00000176697:ENST00000525950:exon2:c.A450G:p.A150A,ENSG00000176697:ENST00000530861:exon2:c.A450G:p.A150A,ENSG00000176697:ENST00000532997:exon2:c.A450G:p.A150A,ENSG00000176697:ENST00000533131:exon2:c.A450G:p.A150A,ENSG00000176697:ENST00000533246:exon2:c.A450G:p.A150A,ENSG00000176697:ENST00000418212:exon3:c.A450G:p.A150A,ENSG00000176697:ENST00000438929:exon3:c.A696G:p.A232A,ENSG00000176697:ENST00000420794:exon4:c.A450G:p.A150A Score=582;Name=lod=309 NA 11p14.1 NA NA NA NA rs2353512 1 1 0.996 0.995208 1 1 0.9986 0.9826 1 1 1 1 0.98 0.9989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.827729 NA NA 1 0.98842 NA 0.986 NA 3.6677666 1293 3 129202316 129202316 C T intronic IFT122 NA NA NA intronic ENSG00000163913 NA NA NA NA NA 3q22.1 NA NA NA NA rs112066509 0.12 0.12 0.109 0.166534 0.1103 0.0893 0.0879 0.2352 0.2669 0.09 0.08 0.1 0.22 0.1216 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.229305 NA NA 0.100349 0.208352 NA 0.319 NA 3.667751 1293 11 43911365 43911365 T C exonic ALKBH3 NA synonymous SNV ALKBH3:NM_139178:exon6:c.T357C:p.T119T exonic ENSG00000166199 NA synonymous SNV ENSG00000166199:ENST00000529366:exon5:c.T354C:p.T118T,ENSG00000166199:ENST00000302708:exon6:c.T357C:p.T119T,ENSG00000166199:ENST00000378840:exon6:c.T354C:p.T118T,ENSG00000166199:ENST00000530803:exon6:c.T354C:p.T118T,ENSG00000166199:ENST00000532962:exon6:c.T357C:p.T119T Score=441;Name=lod=83 NA 11p11.2 NA NA NA NA rs2434478 1 1 0.998 0.997604 1 1 1 0.9909 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 1.189841 NA NA 1 0.990468 NA 1 NA 3.6676666 1293 19 15198263 15198263 A G exonic OR1I1 NA synonymous SNV OR1I1:NM_001004713:exon1:c.A387G:p.P129P exonic ENSG00000094661 NA synonymous SNV ENSG00000094661:ENST00000209540:exon1:c.A387G:p.P129P NA NA 19p13.12 NA Name=NRSF NA NA rs8105277 1 1 1 0.9998 1 0.999 1 1 1 1 1 1 1 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.226769 NA NA 0.999302 0.999773 NA 0.993 NA 3.6676646 1293 3 137880743 137880743 G A exonic DBR1 NA synonymous SNV DBR1:NM_016216:exon8:c.C1623T:p.D541D exonic ENSG00000138231 NA synonymous SNV ENSG00000138231:ENST00000260803:exon8:c.C1623T:p.D541D,ENSG00000138231:ENST00000505015:exon9:c.C921T:p.D307D NA NA 3q22.3 NA NA NA NA rs2622736 0.61 0.61 0.566 0.583267 0.6809 0.5526 0.7017 0.4584 0.5992 0.68 0.56 0.69 0.5 0.63 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 -0.553205 NA NA 0.68814 0.490014 NA 0.601 NA 3.6676266 1293 4 46334702 46334702 A G intronic GABRA2 NA NA NA intronic ENSG00000151834 NA NA NA Score=567;Name=lod=270 NA 4p12 NA NA NA NA rs279827 0.44 0.44 0.413 0.412939 0.4453 0.5665 0.487 0.292 0.3323 0.46 0.52 0.51 0.28 0.4294 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.587214 1.587214 NA 0.457674 0.324784 NA 0.413 NA 3.667626 1293 14 58917454 58917454 G A exonic KIAA0586 NA synonymous SNV KIAA0586:NM_001244193:exon5:c.G699A:p.S233S,KIAA0586:NM_001244191:exon8:c.G864A:p.S288S,KIAA0586:NM_014749:exon8:c.G1119A:p.S373S,KIAA0586:NM_001244190:exon9:c.G1074A:p.S358S,KIAA0586:NM_001244192:exon9:c.G987A:p.S329S,KIAA0586:NM_001244189:exon10:c.G1278A:p.S426S exonic ENSG00000100578 NA synonymous SNV ENSG00000100578:ENST00000261244:exon8:c.G1119A:p.S373S,ENSG00000100578:ENST00000423743:exon9:c.G987A:p.S329S,ENSG00000100578:ENST00000556134:exon9:c.G1074A:p.S358S,ENSG00000100578:ENST00000354386:exon10:c.G1278A:p.S426S NA NA 14q23.1 Score=810;Name=V$OCT1_01 NA NA NA rs1748971 1 1 0.999 0.997404 1 1 0.9986 0.9909 1 1 1 1 0.99 0.9991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.438444 NA NA 1 0.991209 NA 1 NA 3.6675666 1293 1 54607051 54607051 A G exonic CDCP2 NA synonymous SNV CDCP2:NM_201546:exon3:c.T483C:p.Y161Y exonic ENSG00000157211 NA synonymous SNV ENSG00000157211:ENST00000371330:exon3:c.T483C:p.Y161Y Score=501;Name=lod=145 NA 1p32.3 NA NA NA NA rs671103 1 1 1 0.996605 1 1 1 0.9871 1 1 1 1 1 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 2.548459 2.548459 NA 1 0.991148 NA 1 NA 3.6674666 1293 13 75936519 75936519 C G exonic TBC1D4 NA synonymous SNV TBC1D4:NM_014832:exon2:c.G723C:p.G241G exonic ENSG00000136111 NA synonymous SNV ENSG00000136111:ENST00000377625:exon2:c.G723C:p.G241G,ENSG00000136111:ENST00000377636:exon2:c.G723C:p.G241G,ENSG00000136111:ENST00000431480:exon2:c.G723C:p.G241G NA NA 13q22.2 NA NA NA NA rs7983969 1 1 0.995 0.995208 1 1 1 0.9818 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 0.074348 NA NA 1 0.992958 NA 0.986 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118596.2;CLNDSDB=.;CLNDSDBID=. 3.6674666 1293 1 55251689 55251689 T C exonic TTC22 NA synonymous SNV TTC22:NM_001114108:exon5:c.A987G:p.E329E,TTC22:NM_017904:exon5:c.A987G:p.E329E exonic ENSG00000006555 NA synonymous SNV ENSG00000006555:ENST00000448308:exon3:c.A330G:p.E110E,ENSG00000006555:ENST00000371274:exon5:c.A987G:p.E329E,ENSG00000006555:ENST00000371276:exon5:c.A987G:p.E329E Score=559;Name=lod=250 NA 1p32.3 NA NA NA NA rs586462 0.99 0.99 0.999 0.999002 1 1 0.9986 0.997 1 0.99 0.99 0.98 0.98 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.874937 NA NA 1 0.991602 NA 1 NA 3.6673666 1293 16 84485573 84485573 C A exonic ATP2C2 NA synonymous SNV ATP2C2:NM_014861:exon18:c.C1707A:p.L569L exonic ENSG00000064270 NA synonymous SNV ENSG00000064270:ENST00000262429:exon18:c.C1707A:p.L569L,ENSG00000064270:ENST00000416219:exon18:c.C1707A:p.L569L Score=363;Name=lod=40 NA 16q24.1 NA NA NA NA rs247885 1 1 1 0.998203 1 1 0.9986 0.9939 1 1 1 1 0.99 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784411 NA NA 1 0.994405 NA 0.986 NA 3.6673666 1293 16 28842311 28842311 A G exonic ATXN2L NA synonymous SNV ATXN2L:NM_007245:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_017492:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_145714:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148414:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148415:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148416:exon10:c.A1239G:p.Q413Q exonic ENSG00000168488 NA synonymous SNV ENSG00000168488:ENST00000325215:exon10:c.A1239G:p.Q413Q,ENSG00000168488:ENST00000336783:exon10:c.A1239G:p.Q413Q,ENSG00000168488:ENST00000340394:exon10:c.A1239G:p.Q413Q,ENSG00000168488:ENST00000382686:exon10:c.A1239G:p.Q413Q,ENSG00000168488:ENST00000395547:exon10:c.A1239G:p.Q413Q,ENSG00000168488:ENST00000564304:exon10:c.A1239G:p.Q413Q,ENSG00000168488:ENST00000570200:exon10:c.A1239G:p.Q413Q Score=606;Name=lod=387 NA 16p11.2 NA NA NA NA rs4344749 1 1 0.999 0.997804 1 1 1 0.9917 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 1.207026 NA NA 0.999884 0.993173 NA 1 NA 3.6672826 1293 11 55761738 55761738 T G exonic OR5F1 NA synonymous SNV OR5F1:NM_003697:exon1:c.A364C:p.R122R exonic ENSG00000149133 NA synonymous SNV ENSG00000149133:ENST00000278409:exon1:c.A364C:p.R122R Score=426;Name=lod=72 NA 11q12.1 NA NA NA NA rs2128152 1 1 1 0.998403 1 1 1 0.9939 1 1 1 1 1 0.9994 1 NA NA 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 1 0.993412 NA 1 NA 3.6672666 1293 10 71647169 71647169 C T intronic COL13A1 NA NA NA intronic ENSG00000197467 NA NA NA NA NA 10q22.1 NA NA NA NA rs11813062 0.09 0.09 0.103 0.0882588 0.1213 0.0784 0.0692 0.0946 0.0695 0.12 0.07 0.07 0.1 0.1028 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 0.557534 NA NA 0.108717 0.094226 NA 0.058 NA 3.667183 1293 5 40852451 40852451 C G exonic CARD6 NA synonymous SNV CARD6:NM_032587:exon3:c.C1017G:p.T339T exonic ENSG00000132357 NA synonymous SNV ENSG00000132357:ENST00000254691:exon3:c.C1017G:p.T339T NA NA 5p13.1 NA NA NA NA rs188934 1 1 1 0.998602 1 0.9931 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 -1.741933 NA NA NA NA NA 1 NA 3.6671666 1293 10 3143643 3143643 A C exonic PFKP NA synonymous SNV PFKP:NM_002627:exon4:c.A351C:p.R117R,PFKP:NM_001242339:exon6:c.A327C:p.R109R exonic ENSG00000067057 NA synonymous SNV ENSG00000067057:ENST00000381125:exon4:c.A351C:p.R117R,ENSG00000067057:ENST00000407806:exon4:c.A237C:p.R79R,ENSG00000067057:ENST00000421751:exon4:c.A237C:p.R79R,ENSG00000067057:ENST00000381075:exon6:c.A327C:p.R109R NA NA 10p15.2 NA Name=Pol2 NA NA rs4881080 1 1 1 0.998602 1 0.998 1 0.9962 1 1 1 1 1 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.513212 NA NA 0.999884 0.999092 NA 0.841 NA 3.6670826 1293 2 27428295 27428295 A G exonic SLC5A6 NA synonymous SNV SLC5A6:NM_021095:exon7:c.T657C:p.I219I exonic ENSG00000138074 NA synonymous SNV ENSG00000138074:ENST00000310574:exon7:c.T657C:p.I219I,ENSG00000138074:ENST00000408041:exon8:c.T657C:p.I219I Score=417;Name=lod=66 NA 2p23.3 NA NA NA NA rs1275524 1 1 0.998 0.998602 1 1 1 0.9947 1 1 1 1 1 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.621847 NA NA 1 0.996369 NA 1 NA 3.6669666 1293 1 32148571 32148571 A G exonic COL16A1 NA synonymous SNV COL16A1:NM_001856:exon37:c.T2502C:p.P834P exonic ENSG00000084636 NA synonymous SNV ENSG00000084636:ENST00000458715:exon4:c.T165C:p.P55P,ENSG00000084636:ENST00000373668:exon37:c.T2502C:p.P834P,ENSG00000084636:ENST00000373672:exon37:c.T2502C:p.P834P,ENSG00000084636:ENST00000271069:exon38:c.T2499C:p.P833P NA NA 1p35.2 Score=822;Name=V$GRE_C NA NA NA rs10737358 1 1 1 0.999401 1 1 0.9986 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 -0.239332 NA NA 1 0.99769 NA 1 NA 3.6668666 1293 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 1293 13 114312354 114312354 T G exonic ATP4B NA synonymous SNV ATP4B:NM_000705:exon1:c.A106C:p.R36R exonic ENSG00000186009 NA synonymous SNV ENSG00000186009:ENST00000335288:exon1:c.A106C:p.R36R Score=366;Name=lod=41 NA 13q34 NA NA NA NA rs9285616 1 1 1 1 1 1 1 1 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 0.526505 NA NA 1 0.999772 NA 0.964 NA 3.6668666 1293 1 206773659 206773659 A G exonic EIF2D NA synonymous SNV EIF2D:NM_001201478:exon6:c.T534C:p.P178P,EIF2D:NM_006893:exon8:c.T906C:p.P302P exonic ENSG00000143486 NA synonymous SNV ENSG00000143486:ENST00000367114:exon6:c.T534C:p.P178P,ENSG00000143486:ENST00000271764:exon8:c.T906C:p.P302P Score=564;Name=lod=262 NA 1q32.1 NA NA NA NA rs6662929 1 1 1 0.9998 1 1 1 0.9992 1 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 1.080318 NA NA 0.999884 0.999092 NA 1 NA 3.6667826 1293 4 70355211 70355211 T C exonic UGT2B4 NA synonymous SNV UGT2B4:NM_021139:exon3:c.A948G:p.T316T exonic ENSG00000156096 NA synonymous SNV ENSG00000156096:ENST00000305107:exon3:c.A948G:p.T316T,ENSG00000156096:ENST00000512583:exon3:c.A948G:p.T316T,ENSG00000156096:ENST00000381096:exon4:c.A540G:p.T180T NA NA 4q13.2 NA NA NA NA rs1845555 1 1 1 0.9998 1 1 1 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 -1.802855 NA NA NA NA NA 1 NA 3.6667666 1293 16 24902194 24902194 T C exonic SLC5A11 NA synonymous SNV SLC5A11:NM_001258412:exon8:c.T459C:p.F153F,SLC5A11:NM_001258411:exon9:c.T564C:p.F188F,SLC5A11:NM_001258413:exon9:c.T477C:p.F159F,SLC5A11:NM_052944:exon9:c.T669C:p.F223F exonic ENSG00000158865 NA synonymous SNV ENSG00000158865:ENST00000568579:exon7:c.T459C:p.F153F,ENSG00000158865:ENST00000539472:exon8:c.T477C:p.F159F,ENSG00000158865:ENST00000545376:exon8:c.T459C:p.F153F,ENSG00000158865:ENST00000567758:exon8:c.T564C:p.F188F,ENSG00000158865:ENST00000347898:exon9:c.T669C:p.F223F,ENSG00000158865:ENST00000424767:exon9:c.T564C:p.F188F,ENSG00000158865:ENST00000565769:exon9:c.T477C:p.F159F NA NA 16p12.1 NA NA NA NA rs274081 1 1 1 0.9998 1 0.999 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 -0.936113 NA NA NA NA NA 1 NA 3.6667666 1293 19 58982384 58982384 A G exonic ZNF324 NA synonymous SNV ZNF324:NM_014347:exon4:c.A525G:p.R175R exonic ENSG00000083812 NA synonymous SNV ENSG00000083812:ENST00000196482:exon4:c.A525G:p.R175R,ENSG00000083812:ENST00000536459:exon4:c.A525G:p.R175R NA NA 19q13.43 NA NA NA NA rs10418774 1 1 1 0.999601 1 0.998 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 0.345602 NA NA NA NA NA 1 NA 3.6667666 1293 1 246720798 246720798 G A exonic TFB2M NA synonymous SNV TFB2M:NM_022366:exon3:c.C441T:p.I147I exonic ENSG00000162851 NA synonymous SNV ENSG00000162851:ENST00000366514:exon3:c.C441T:p.I147I NA NA 1q44 Score=744;Name=V$PPARG_02 NA NA NA rs3124071 1 1 1 1 1 1 1 1 1 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 -1.141627 NA NA 1 0.999773 NA 1 NA 3.6666666 1293 5 162890953 162890953 G A exonic HMMR NA synonymous SNV HMMR:NM_001142556:exon2:c.G138A:p.Q46Q,HMMR:NM_012484:exon2:c.G138A:p.Q46Q,HMMR:NM_012485:exon2:c.G138A:p.Q46Q exonic ENSG00000072571 NA synonymous SNV ENSG00000072571:ENST00000353866:exon2:c.G138A:p.Q46Q,ENSG00000072571:ENST00000358715:exon2:c.G138A:p.Q46Q,ENSG00000072571:ENST00000393915:exon2:c.G138A:p.Q46Q NA NA 5q34 NA NA NA NA rs380101 1 1 1 1 1 1 1 1 1 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 -1.400235 NA NA NA NA NA 1 NA 3.6666666 1293 11 27077118 27077118 C T exonic BBOX1 NA synonymous SNV BBOX1:NM_003986:exon3:c.C141T:p.S47S exonic ENSG00000129151 NA synonymous SNV ENSG00000129151:ENST00000525090:exon1:c.C141T:p.S47S,ENSG00000129151:ENST00000528583:exon2:c.C141T:p.S47S,ENSG00000129151:ENST00000529202:exon2:c.C141T:p.S47S,ENSG00000129151:ENST00000263182:exon3:c.C141T:p.S47S,ENSG00000129151:ENST00000533566:exon3:c.C141T:p.S47S Score=449;Name=lod=89 NA 11p14.2 NA NA NA NA rs10767598 1 1 1 1 1 1 1 1 1 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 1.344457 1.344457 NA 1 0.999773 NA 1 NA 3.6666666 1293 11 76370792 76370792 A G exonic LRRC32 NA synonymous SNV LRRC32:NM_001128922:exon3:c.T1845C:p.P615P,LRRC32:NM_005512:exon3:c.T1845C:p.P615P exonic ENSG00000137507 NA synonymous SNV ENSG00000137507:ENST00000260061:exon3:c.T1845C:p.P615P,ENSG00000137507:ENST00000404995:exon3:c.T1845C:p.P615P,ENSG00000137507:ENST00000407242:exon3:c.T1845C:p.P615P NA NA 11q13.5 NA NA NA NA rs4304809 1 1 1 1 1 1 1 1 1 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 -1.531622 NA NA NA NA NA 0.964 NA 3.6666666 1293 12 9571547 9571547 C G ncRNA_intronic DDX12P NA NA NA ncRNA_intronic ENSG00000214826 NA NA NA NA NA 12p13.31 NA NA NA NA rs61916776 0.95 0.95 0.952 0.954073 1 1 0.9856 0.8336 1 0.99 0.99 0.97 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 -0.218969 NA NA NA NA NA 0.406 NA 3.6666666 1293 13 39262057 39262057 G A exonic FREM2 NA synonymous SNV FREM2:NM_207361:exon1:c.G576A:p.E192E exonic ENSG00000150893 NA synonymous SNV ENSG00000150893:ENST00000280481:exon1:c.G576A:p.E192E Score=454;Name=lod=93 NA 13q13.3 NA NA NA NA rs1868464 1 1 1 1 1 1 1 1 1 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 0.275346 NA NA 1 0.999317 NA 0.942 NA 3.6666666 1293 19 56241265 56241265 A G exonic NLRP9 NA synonymous SNV NLRP9:NM_176820:exon3:c.T1926C:p.L642L exonic ENSG00000185792 NA synonymous SNV ENSG00000185792:ENST00000332836:exon3:c.T1926C:p.L642L,ENSG00000185792:ENST00000590200:exon3:c.T1926C:p.L642L NA NA 19q13.42 NA NA NA NA rs193384 1 1 1 0.9998 1 0.999 1 1 1 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 -0.250917 NA NA NA NA NA 1 NA 3.6666666 1293 21 31655212 31655212 A C exonic KRTAP24-1 NA synonymous SNV KRTAP24-1:NM_001085455:exon1:c.T39G:p.G13G exonic ENSG00000188694 NA synonymous SNV ENSG00000188694:ENST00000340345:exon1:c.T39G:p.G13G NA NA 21q22.11 NA NA NA NA rs1557291 1 1 1 1 1 1 1 1 1 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 -1.258901 NA NA NA NA NA 1 NA 3.6666666 1293 22 21331043 21331043 A T exonic AIFM3 NA synonymous SNV AIFM3:NM_001018060:exon12:c.A1134T:p.R378R,AIFM3:NM_001146288:exon12:c.A1152T:p.R384R,AIFM3:NM_144704:exon12:c.A1134T:p.R378R exonic ENSG00000183773 NA synonymous SNV ENSG00000183773:ENST00000333607:exon11:c.A1134T:p.R378R,ENSG00000183773:ENST00000335375:exon11:c.A1098T:p.R366R,ENSG00000183773:ENST00000440238:exon11:c.A1134T:p.R378R,ENSG00000183773:ENST00000399163:exon12:c.A1134T:p.R378R,ENSG00000183773:ENST00000399167:exon12:c.A1134T:p.R378R,ENSG00000183773:ENST00000405089:exon12:c.A1152T:p.R384R NA NA 22q11.21 NA NA NA NA rs178269 1 1 1 1 1 1 1 1 1 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 0.56046 NA NA NA NA NA 1 NA 3.6666666 1293 3 148939393 148939393 C T intronic CP NA NA NA intronic ENSG00000047457 NA NA NA NA NA 3q25.1 NA NA NA NA rs3736282 0.14 0.14 0.11 0.138179 0.1083 0.2669 0.1585 0.0204 0.181 0.11 0.26 0.15 0.03 0.1316 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.077086 NA NA 0.09383 0.028982 NA 0.094 NA 3.66627 1293 8 141572497 141572497 G A intronic AGO2 NA NA NA intronic ENSG00000123908 NA NA NA NA NA 8q24.3 NA NA NA NA rs2292774 0.43 0.43 0.421 0.489417 0.334 0.6815 0.5764 0.407 0.501 0.31 0.61 0.48 0.37 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 -0.610126 NA NA NA NA NA NA NA 3.666 1293 10 102750783 102750783 C A UTR3 C10orf2 NM_001163812:c.*1C>A,NM_001163814:c.*1C>A NA NA UTR3 ENSG00000107815 ENST00000370228:c.*1C>A NA NA NA NA 10q24.31 NA NA NA NA rs3740487 0.36 0.36 0.356 0.375799 0.1839 0.5288 0.2954 0.4758 0.3374 0.18 0.55 0.26 0.5 0.2755 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.690483 NA NA 0.20814 0.435315 NA 0.348 NA 3.6657934 1293 11 44080284 44080284 G A intronic ACCSL NA NA NA intronic ENSG00000205126 NA NA NA NA NA 11p11.2 NA NA NA NA rs17795924 0.1 0.1 0.092 0.0808706 0.1243 0.0605 0.0893 0.0961 0.0307 0.13 0.07 0.09 0.11 0.1011 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295241 NA NA 0.108902 0.082306 NA 0.058 NA 3.665698 1293 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 1293 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 1293 4 153897770 153897770 G A exonic FHDC1 NA synonymous SNV FHDC1:NM_033393:exon11:c.G3327A:p.T1109T exonic ENSG00000137460 NA synonymous SNV ENSG00000137460:ENST00000260008:exon11:c.G3327A:p.T1109T,ENSG00000137460:ENST00000511601:exon12:c.G3327A:p.T1109T NA NA 4q31.3 NA NA NA NA rs3811832 0.51 0.51 0.481 0.462061 0.6859 0.5476 0.5749 0.1392 0.5 0.68 0.55 0.59 0.17 0.6203 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 0.087778 NA NA 0.695349 0.222551 NA 0.478 NA 3.6651176 1293 4 129924852 129924852 T C intronic SCLT1 NA NA NA intronic ENSG00000151466 NA NA NA NA NA 4q28.2 NA NA NA NA rs3099900 0.06 0.06 0.054 0.0377396 0.1223 NA 0.0576 0.0068 0.0174 0.13 NA 0.07 0.01 0.0925 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.251101 NA NA 0.120084 0.021581 NA 0.08 NA 3.665116 1294 5 178553185 178553185 G A intronic ADAMTS2 NA NA NA intronic ENSG00000087116 NA NA NA NA NA 5q35.3 NA NA NA NA rs2303643 0.51 0.51 0.489 0.507388 0.335 0.5377 0.3487 0.8018 0.3681 0.34 0.54 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 -0.15642 NA NA NA NA NA 0.449 NA 3.665 1294 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 1294 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 1294 7 107834624 107834624 T C intronic NRCAM NA NA NA intronic ENSG00000091129 NA NA NA NA NA 7q31.1 NA Name=MafK_(SC-477),GR,ERalpha_a,MafF_(M8194),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 1294 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 1294 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 1294 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 1294 11 61505696 61505696 G T intronic DAGLA NA NA NA intronic ENSG00000134780 NA NA NA NA NA 11q12.2 NA Name=CTCF NA NA rs198443 0.54 0.54 0.524 0.495008 0.4314 0.8046 0.5014 0.3654 0.4121 0.45 0.83 0.47 0.39 0.4622 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 1.813489 1.813489 NA 0.442196 0.360127 NA 0.514 NA 3.664204 1294 12 658871 658871 A G intronic B4GALNT3 NA NA NA intronic ENSG00000139044 NA NA NA NA NA 12p13.33 NA NA NA NA rs4980939 0.35 0.35 0.319 0.345847 0.336 0.377 0.4121 0.2254 0.4397 0.34 0.4 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 0.510739 NA NA NA NA NA 0.261 NA 3.664 1294 19 8148314 8148314 A C intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs17160149 0.35 0.35 0.335 0.320687 0.336 0.252 0.4712 0.3979 0.1646 0.34 0.27 0.45 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 0.161382 NA NA NA NA NA 0.29 NA 3.664 1294 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 1294 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 1294 11 3111782 3111782 G A intronic OSBPL5 NA NA NA intronic ENSG00000021762 NA NA NA NA NA 11p15.4 NA NA NA NA rs2412134 0.1 0.1 0.096 0.102436 0.1163 0.0159 0.1816 0.1626 0.0399 0.12 0.01 0.15 0.14 0.1078 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165724 NA NA 0.112378 0.151976 NA 0.167 NA 3.663522 1294 9 117819389 117819389 A T intronic TNC NA NA NA intronic ENSG00000041982 NA NA NA NA NA 9q33.1 NA NA NA NA rs12348090 0.1 0.1 0.105 0.0980431 0.1143 0.123 0.1124 0.0605 0.0961 0.1 0.14 0.09 0.07 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 1.120978 NA NA 0.11093 0.056741 NA 0.072 NA 3.66337 1294 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 1294 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 1294 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 1294 11 44079831 44079831 A G intronic ACCSL NA NA NA intronic ENSG00000205126 NA NA NA NA NA 11p11.2 NA NA NA NA rs12275640 0.12 0.12 0.103 0.0940495 0.1252 0.0605 0.0922 0.1437 0.0307 0.13 0.08 0.09 0.16 0.1035 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.653297 NA NA 0.108717 0.125736 NA 0.065 NA 3.662583 1294 13 52293509 52293509 C T intronic WDFY2 NA NA NA intronic ENSG00000139668 NA NA NA NA NA 13q14.3 NA NA NA NA rs3803201 0.16 0.16 0.142 0.140176 0.1252 0.2808 0.2089 0.0068 0.1421 0.14 0.31 0.16 0.01 0.1255 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.064892 2.064892 NA 0.086744 0.024512 ID=COSN164502;OCCURENCE=1(NS) 0.123 NA 3.662556 1294 6 133055610 133055610 G T ncRNA_intronic VNN3 NA NA NA exonic ENSG00000093134 NA synonymous SNV ENSG00000093134:ENST00000417437:exon1:c.C222A:p.P74P NA NA 6q23.2 NA NA NA NA rs764262 0.52 0.52 0.527 0.564696 0.4801 0.256 0.6628 0.8517 0.5123 0.46 0.25 0.65 0.82 0.5241 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 0.637994 NA NA 0.500116 0.801634 NA 0.333 NA 3.6623506 1294 7 31016018 31016018 G A intronic GHRHR NA NA NA intronic ENSG00000106128 NA NA NA NA NA 7p14.3 NA NA NA NA rs4988504 0.13 0.13 0.116 0.131789 0.1183 0.1726 0.1427 0.0794 0.1667 0.11 0.18 0.14 0.07 0.1142 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.389818 1.389818 NA 0.105349 0.081026 ID=COSN168004;OCCURENCE=1(large_intestine) 0.138 NA 3.662151 1294 3 129185924 129185924 G A intronic IFT122 NA NA NA intronic ENSG00000163913 NA NA NA NA NA 3q21.3 NA NA NA NA rs56379561 0.12 0.12 0.119 0.16893 0.1093 0.0903 0.0937 0.2413 0.2669 0.09 0.08 0.11 0.22 0.1281 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25725 NA NA 0.100581 0.220154 NA 0.326 NA 3.662019 1294 1 13933855 13933855 A G intronic PDPN NA NA NA intronic ENSG00000162493 NA NA NA NA NA 1p36.21 NA NA NA NA rs35870640 0.27 0.27 0.241 0.222444 0.338 0.1339 0.4597 0.1324 0.1483 0.36 0.16 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 -0.52169 NA NA NA NA NA 0.232 NA 3.662 1294 18 21343354 21343354 A G intronic LAMA3 NA NA NA intronic ENSG00000053747 NA NA NA NA NA 18q11.2 NA NA NA NA rs7232856 0.28 0.28 0.294 0.266374 0.0944 0.5486 0.1398 0.2859 0.2157 0.08 0.58 0.14 0.34 0.1618 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.40123 NA NA 0.081924 0.2579 NA 0.232 NA 3.661876 1294 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 1294 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 1294 20 62659937 62659937 C T intronic PRPF6 NA NA NA intronic ENSG00000101161,ENSG00000196700 NA NA NA NA NA 20q13.33 NA NA NA NA rs41278240 0.11 0.11 0.086 0.158546 0.1004 0.0427 0.1037 0.2383 0.2689 0.09 0.04 0.09 0.24 0.1318 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.819029 NA NA 0.106279 0.228779 NA 0.116 NA 3.661521 1294 14 56146228 56146228 T G intronic KTN1 NA NA NA intronic ENSG00000126777 NA NA NA NA NA 14q22.3 NA NA NA NA rs12587735 0.37 0.37 0.37 0.383786 0.339 0.369 0.3127 0.4304 0.4325 0.34 0.35 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 0.803575 NA NA NA NA NA 0.319 NA 3.661 1294 9 136298729 136298729 G C intronic ADAMTS13 NA NA NA intronic ENSG00000160323 NA NA NA NA NA 9q34.2 NA Name=CTCF,CTCF_(SC-5916) NA NA rs739469 0.53 0.53 0.534 0.517971 0.4215 0.8125 0.4769 0.3691 0.544 0.41 0.81 0.49 0.39 0.4736 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 -0.68945 NA NA 0.444651 0.356786 NA 0.428 NA 3.660249 1294 14 104639644 104639644 C T intronic KIF26A NA NA NA intronic ENSG00000066735 NA NA NA NA NA 14q32.33 NA NA NA NA rs11622217 0.09 0.09 0.096 0.0930511 0.1233 0.006 0.0735 0.1392 0.1033 0.13 0.01 0.07 0.12 0.108 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.245401 NA NA 0.108669 0.115195 NA 0.181 NA 3.660031 1294 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 1294 6 148664404 148664404 G A intronic SASH1 NA NA NA intronic ENSG00000111961 NA NA NA NA NA 6q24.3 NA NA NA NA rs55914407 0.05 0.05 0.048 0.0491214 0.1233 0.001 0.0461 0.0083 0.0798 0.12 NA 0.05 0.01 0.0941 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 0.766239 NA NA 0.123195 0.023995 NA 0.036 NA 3.659405 1294 2 73927931 73927931 A G exonic NAT8B NA unknown UNKNOWN ncRNA_exonic ENSG00000204872 NA NA NA Score=454;Name=lod=93 NA 2p13.1 NA NA NA NA rs4852974 0.74 0.74 0.71 0.766573 0.7376 0.7103 0.7651 0.8608 0.728 0.72 0.69 0.77 0.82 0.7274 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 0.632224 NA NA 0.708953 0.827962 NA 0.71 NA 3.6593803 1294 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 1294 8 133048619 133048619 T C intronic OC90 NA NA NA exonic ENSG00000258417 NA synonymous SNV ENSG00000258417:ENST00000443356:exon10:c.A726G:p.K242K,ENSG00000258417:ENST00000262283:exon13:c.A1314G:p.K438K Score=300;Name=lod=22 NA 8q24.22 NA NA NA NA rs7461611 0.74 0.74 0.727 0.732228 0.7247 0.7728 0.7709 0.6936 0.7229 0.72 0.8 0.72 0.71 0.7289 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 -0.455284 NA NA 0.720738 0.714936 NA 0.659 NA 3.6589953 1294 1 109771063 109771063 T C intronic SARS NA NA NA intronic ENSG00000031698 NA NA NA NA NA 1p13.3 NA Name=STAT1 Name=36 NA rs683182 0.73 0.73 0.672 0.679912 0.7883 0.8879 0.8098 0.3911 0.6524 0.78 0.87 0.81 0.41 0.7571 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 0.227453 NA NA 0.795698 0.488879 NA 0.645 NA 3.658902 1294 19 51217550 51217550 G A intronic SHANK1 NA NA NA intronic ENSG00000161681 NA NA NA Score=540;Name=lod=209 NA 19q13.33 NA NA NA NA rs3745530 0.39 0.39 0.382 0.403554 0.4602 0.2331 0.4107 0.4191 0.4949 0.46 0.22 0.42 0.45 0.4398 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.575033 1.575033 NA 0.441279 0.380844 NA 0.486 NA 3.658721 1294 11 487101 487101 C T intronic PTDSS2 NA NA NA intronic ENSG00000174915 NA NA NA NA NA 11p15.5 NA NA NA NA rs61876332 0.07 0.07 0.057 0.0555112 0.0974 0.002 0.2118 0.0061 0.0235 0.1 NA 0.21 0.01 0.113 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321958 NA NA 0.13093 0.025193 NA 0.065 NA 3.65867 1294 2 55815997 55815997 T C intronic SMEK2 NA NA NA intronic ENSG00000138041 NA NA NA NA NA 2p16.1 NA NA NA NA rs6545508 0.14 0.14 0.15 0.176717 0.0954 0.0387 0.1037 0.3949 0.1595 0.09 0.03 0.09 0.4 0.1454 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.364645 1.364645 NA 0.100721 0.368074 NA 0.181 NA 3.658479 1294 17 4448853 4448853 C T intronic MYBBP1A NA NA NA intronic ENSG00000132382 NA NA NA NA NA 17p13.2 NA Name=Pol2 NA NA rs2306267 0.39 0.39 0.366 0.35004 0.663 0.2004 0.5403 0.0393 0.4673 0.66 0.23 0.57 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 -0.513809 NA NA 0.678553 0.148509 NA 0.478 NA 3.658447 1294 20 10393162 10393162 A C intronic MKKS NA NA NA intronic ENSG00000125863 NA NA NA NA NA 20p12.2 NA NA NA NA rs6133917 0.17 0.17 0.162 0.192891 0.0875 0.2569 0.1153 0.2103 0.2669 0.09 0.23 0.13 0.25 0.1443 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.017831 4.017831 NA 0.110116 0.167272 NA 0.152 NA 3.658084 1294 19 17186136 17186136 C A intronic HAUS8 NA NA NA intronic ENSG00000131351 NA NA NA NA NA 19p13.11 NA Name=NFKB,TAF1,Pol2-4H8,HEY1,KAP1,Pol2,HA-E2F1,TAF7_(SQ-8),E2F6_(H-50),POU2F2,E2F6,TBP,Pol2(b),ZBTB7A_(SC-34508),YY1,YY1_(C-20),TCF4,Nrf1,Oct-2,E2F4,NRSF 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 1294 10 82034842 82034842 A G exonic MAT1A NA synonymous SNV MAT1A:NM_000429:exon7:c.T882C:p.A294A exonic ENSG00000151224 NA synonymous SNV ENSG00000151224:ENST00000372213:exon7:c.T882C:p.A294A NA NA 10q23.1 NA NA NA NA rs10887711 0.8 0.8 0.791 0.840455 0.6412 0.9712 0.7781 0.9266 0.8384 0.64 0.97 0.75 0.9 0.7441 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 -0.765378 NA NA 0.623575 0.869891 ID=COSM428025;OCCURENCE=1(breast) 0.775 NA 3.6577916 1294 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 1294 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 1294 19 34859457 34859457 G A intronic GPI NA NA NA intronic ENSG00000105220 NA NA NA NA NA 19q13.11 NA Name=Pol2,c-Myc NA NA rs2099099 0.66 0.66 0.68 0.685903 0.4274 0.8165 0.5504 0.9357 0.5757 0.44 0.82 0.54 0.93 0.5124 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 -0.665055 NA NA 0.402907 0.837721 NA 0.536 NA 3.657293 1294 3 52557038 52557038 C T intronic STAB1 NA NA NA intronic ENSG00000010327 NA NA NA Score=321;Name=lod=27 NA 3p21.1 NA NA NA NA rs4234633 0.41 0.41 0.421 0.334864 0.4592 0.4375 0.4942 0.152 0.2352 0.46 0.5 0.5 0.17 0.4246 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.95835 NA NA 0.458953 0.184067 NA 0.232 NA 3.657247 1294 6 142487469 142487469 C A intronic VTA1 NA NA NA intronic ENSG00000009844 NA NA NA Score=645;Name=lod=558 NA 6q24.1 NA NA NA NA rs225656 0.35 0.35 0.351 0.372804 0.4414 0.1845 0.2839 0.4342 0.4765 0.45 0.18 0.33 0.42 0.4252 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312042 NA NA 0.476163 0.428734 ID=COSM150187;OCCURENCE=1(stomach) 0.362 NA 3.657237 1294 17 29221763 29221763 C T intronic ATAD5 NA NA NA intronic ENSG00000176208 NA NA NA NA NA 17q11.2 NA NA NA NA rs61348930 0.13 0.13 0.109 0.144369 0.1074 0.1359 0.1859 0.0719 0.2597 0.09 0.16 0.18 0.09 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 -1.77099 NA NA 0.1024 0.070419 NA 0.138 NA 3.6568 1294 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 1294 8 144590112 144590112 C T intronic ZC3H3 NA NA NA intronic ENSG00000014164 NA NA NA NA NA 8q24.3 NA NA NA NA rs11774714 0.06 0.06 0.048 0.0455272 0.1233 NA 0.0807 0.0045 0.0429 0.11 NA 0.1 0.0041 0.0894 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.365891 NA NA 0.131279 0.023604 NA 0.101 NA 3.656021 1294 1 52279650 52279650 T G intronic NRD1 NA NA NA intronic ENSG00000078618 NA NA NA NA NA 1p32.3 Score=885;Name=V$SOX9_B1 NA NA NA rs2982846 0.83 0.83 0.834 0.834465 0.6889 0.9831 0.8271 0.9115 0.7321 0.68 0.98 0.8 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 -0.69897 NA NA 0.655248 0.874277 NA 0.87 NA 3.655852 1294 21 45534032 45534032 C T intronic PWP2 NA NA NA intronic ENSG00000241945 NA NA NA NA NA 21q22.3 NA Name=Rad21,CTCFL_(SC-98982),SMC3_(ab9263),CTCF,ELF1_(SC-631),CTCF_(SC-5916),GABP,CTCF_(C-20) Name=35 NA rs2243999 0.64 0.64 0.603 0.573882 0.8201 0.6984 0.6744 0.2519 0.5562 0.81 0.7 0.7 0.26 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 1.400517 1.400517 NA 0.807442 0.330232 NA 0.623 NA 3.655758 1294 8 125568175 125568175 T C intronic MTSS1 NA NA NA intronic ENSG00000147684,ENSG00000170873 NA NA NA NA NA 8q24.13 NA NA NA NA rs3793395 0.18 0.18 0.181 0.192692 0.0954 0.2202 0.0677 0.357 0.1309 0.1 0.21 0.07 0.36 0.1549 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.286201 NA NA 0.09407 0.310259 NA 0.246 NA 3.65563 1294 10 73044580 73044580 G A exonic UNC5B NA synonymous SNV UNC5B:NM_001244889:exon3:c.G408A:p.A136A,UNC5B:NM_170744:exon3:c.G408A:p.A136A exonic ENSG00000107731 NA synonymous SNV ENSG00000107731:ENST00000335350:exon3:c.G408A:p.A136A,ENSG00000107731:ENST00000373192:exon3:c.G408A:p.A136A NA NA 10q22.1 NA NA NA NA rs12770025 0.54 0.54 0.522 0.498003 0.6948 0.3879 0.4611 0.4289 0.5286 0.68 0.41 0.53 0.47 0.6225 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 1.203502 NA NA 0.693953 0.46936 NA 0.645 NA 3.6554136 1294 1 109377537 109377537 G A intronic AKNAD1 NA NA NA intronic ENSG00000162641 NA NA NA NA NA 1p13.3 NA NA NA NA rs12057309 0.13 0.13 0.13 0.127995 0.1113 0.1181 0.0922 0.1967 0.0879 0.11 0.11 0.1 0.22 0.1205 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.300187 NA NA 0.112791 0.176804 NA 0.152 NA 3.655409 1295 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 1295 5 177483184 177483184 A G intergenic FAM153C,N4BP3 dist=7096;dist=57372 NA NA ncRNA_exonic ENSG00000218227 NA NA NA Score=782;Name=lod=2001 NA 5q35.3 NA NA NA NA rs11953029 0.46 0.46 0.409 0.467252 0.4483 0.5308 0.4986 0.3956 0.4959 0.45 0.52 0.5 0.37 0.4669 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414691 NA 0.2 0.430101 0.355586 NA 0.384 NA 3.654699 1295 12 104146964 104146964 C A intronic STAB2 NA NA NA ncRNA_intronic ENSG00000257681 NA NA NA NA NA 12q23.3 NA NA NA NA rs35756765 0.18 0.18 0.178 0.136781 0.2406 0.1161 0.1571 0.1407 0.0317 0.24 0.13 0.2 0.14 0.1927 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.217379 NA NA 0.245465 0.152973 NA 0.217 NA 3.6545683 1295 11 6638174 6638174 A G intronic TPP1 NA NA NA intronic ENSG00000166340 NA NA NA NA NA 11p15.4 NA NA NA NA rs1800710 0.05 0.05 0.058 0.0760783 0.1153 0.002 0.0793 0.0091 0.2004 0.11 0.0017 0.08 0.01 0.1078 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 -0.915655 NA NA 0.122556 0.019991 NA 0.036 NA 3.654344 1295 5 5460569 5460569 C T exonic KIAA0947 NA synonymous SNV KIAA0947:NM_015325:exon13:c.C1122T:p.Y374Y exonic ENSG00000164151 NA synonymous SNV ENSG00000164151:ENST00000296564:exon13:c.C1122T:p.Y374Y NA NA 5p15.32 NA NA NA NA rs2578565 0.7 0.7 0.697 0.719249 0.6491 0.6944 0.8213 0.7073 0.7607 0.64 0.73 0.77 0.69 0.6973 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 -1.635453 NA NA 0.66634 0.726171 NA 0.739 NA 3.6539266 1295 12 104147171 104147171 G A intronic STAB2 NA NA NA ncRNA_intronic ENSG00000257681 NA NA NA NA NA 12q23.3 NA NA NA NA rs3751200 0.19 0.19 0.192 0.136382 0.2406 0.1171 0.1556 0.1392 0.0317 0.24 0.14 0.2 0.14 0.1928 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.985684 NA NA 0.246047 0.153654 NA 0.21 NA 3.6538863 1295 7 140043373 140043373 T C intronic SLC37A3 NA NA NA intronic ENSG00000157800 NA NA NA NA NA 7q34 NA NA NA NA rs11772729 0.08 0.08 0.081 0.0686901 0.1143 0.001 0.0677 0.0893 0.0644 0.12 NA 0.1 0.09 0.1018 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.611744 1.611744 NA 0.130465 0.077621 NA 0.109 NA 3.653435 1295 8 131921956 131921956 A G exonic ADCY8 NA synonymous SNV ADCY8:NM_001115:exon6:c.T1638C:p.P546P exonic ENSG00000155897 NA synonymous SNV ENSG00000155897:ENST00000286355:exon6:c.T1638C:p.P546P,ENSG00000155897:ENST00000377928:exon6:c.T1638C:p.P546P,ENSG00000155897:ENST00000522949:exon6:c.T483C:p.P161P NA NA 8q24.22 NA NA NA NA rs12547243 0.61 0.61 0.573 0.544728 0.6958 0.6815 0.6297 0.3343 0.4724 0.69 0.68 0.68 0.36 0.6348 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 -1.205782 NA NA 0.683605 0.358829 NA 0.616 NA 3.6524616 1295 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 1295 12 309753 309753 C T intronic SLC6A12 NA NA NA intronic ENSG00000111181 NA NA NA NA NA 12p13.33 NA NA NA NA rs7967868 0.26 0.26 0.243 0.229433 0.3479 0.2292 0.2363 0.1377 0.227 0.37 0.21 0.27 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 0.351185 NA NA NA NA NA 0.196 NA 3.6521 1295 11 498442 498442 G A intronic RNH1 NA NA NA intronic ENSG00000023191 NA NA NA NA NA 11p15.5 NA NA NA NA rs35811812 0.09 0.09 0.078 0.0866613 0.0974 0.002 0.2233 0.118 0.0235 0.1 NA 0.22 0.11 0.1202 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.923353 NA NA 0.130465 0.114616 NA 0.072 NA 3.651935 1295 19 37399412 37399412 C T intronic ZNF829 NA NA NA intronic ENSG00000185869 NA NA NA NA NA 19q13.12 NA NA NA NA rs10418144 0.18 0.18 0.193 0.198882 0.1143 0.1528 0.134 0.3374 0.1922 0.11 0.17 0.17 0.33 0.1353 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38753 NA NA 0.098687 0.271636 NA 0.217 NA 3.651713 1295 6 139487836 139487836 T C exonic HECA NA synonymous SNV HECA:NM_016217:exon2:c.T687C:p.N229N exonic ENSG00000112406 NA synonymous SNV ENSG00000112406:ENST00000367658:exon2:c.T687C:p.N229N NA NA 6q24.1 NA NA NA NA rs3173082 0.6 0.6 0.62 0.628395 0.6948 0.2183 0.7248 0.8661 0.593 0.68 0.22 0.72 0.85 0.653 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 0.351352 NA NA 0.667248 0.853249 NA 0.717 NA 3.6516186 1295 2 234372985 234372985 A C intronic DGKD NA NA NA intronic ENSG00000077044 NA NA NA NA NA 2q37.1 NA NA NA NA rs2242098 0.35 0.35 0.374 0.392971 0.3489 0.1845 0.2695 0.7421 0.2689 0.33 0.15 0.26 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 0.338518 NA NA NA NA NA 0.478 NA 3.6511 1295 8 20036018 20036018 G T intronic SLC18A1 NA NA NA intronic ENSG00000036565 NA NA NA NA NA 8p21.3 NA NA NA NA rs28491510 NA NA NA 0.114417 0.1799 0.1101 0.1427 0.0658 0.0971 NA NA NA NA 0.1694 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.135984 NA NA NA NA NA NA NA 3.6507 1295 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 1295 1 177250670 177250670 G A UTR3 FAM5B NM_021165:c.*6G>A NA NA UTR3 ENSG00000198797 ENST00000361539:c.*6G>A NA NA NA NA 1q25.2 NA NA NA NA rs1045736 0.12 0.12 0.115 0.105631 0.2376 0.001 0.1542 0.0598 0.1053 0.23 NA 0.17 0.06 0.1937 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.229352 NA NA 0.252209 0.09714 NA 0.087 NA 3.6498244 1295 20 62836382 62836382 C T intronic MYT1 NA NA NA intronic ENSG00000196132 NA NA NA NA NA 20q13.33 NA NA NA NA rs2273443 0.08 0.08 0.088 0.0826677 0.1193 0.0774 0.0821 0.031 0.1207 0.13 0.08 0.07 0.04 0.1078 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.099318 3.099318 NA 0.123488 0.046981 NA 0.094 NA 3.649412 1295 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 1295 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 1295 10 18439926 18439926 T C intronic CACNB2 NA NA NA intronic ENSG00000165995 NA NA NA NA NA 10p12.33 NA NA NA NA rs79819217 0.06 0.06 0.059 0.0632987 0.1342 0.0169 0.0706 0.0091 0.1063 0.13 0.01 0.08 0.01 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 0.545145 NA NA 0.121279 0.030186 NA 0.036 NA 3.648921 1295 1 144859720 144859720 G C intronic NBPF9,PDE4DIP NA NA NA ncRNA_intronic ENSG00000255148 NA NA NA NA NA 1q21.1 NA Name=CTCF NA NA rs678786 0.92 0.92 0.947 0.923922 0.829 0.996 0.9078 0.9939 0.864 0.82 0.99 0.88 1 0.8557 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.398191 NA NA NA NA NA 0.877 NA 3.6486333 1295 20 62830290 62830290 C A intronic MYT1 NA NA NA intronic ENSG00000196132 NA NA NA NA NA 20q13.33 NA NA NA NA rs2295450 0.09 0.09 0.091 0.0832668 0.1193 0.0764 0.0865 0.0325 0.1196 0.13 0.08 0.07 0.05 0.1085 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.604814 NA NA 0.12407 0.057649 NA 0.101 NA 3.64813 1295 7 76885769 76885769 A G exonic CCDC146 NA synonymous SNV CCDC146:NM_020879:exon6:c.A627G:p.Q209Q exonic ENSG00000135205 NA synonymous SNV ENSG00000135205:ENST00000285871:exon6:c.A627G:p.Q209Q NA NA 7q11.23 NA NA NA NA rs3108428 0.5 0.5 0.456 0.496805 0.6918 0.4554 0.5735 0.205 0.6789 0.7 0.43 0.58 0.24 0.6255 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 -0.660265 NA NA 0.701559 0.305946 NA 0.413 NA 3.6478076 1295 1 160720074 160720074 C T intronic SLAMF7 NA NA NA intronic ENSG00000026751 NA NA NA NA NA 1q23.3 NA NA NA NA rs11581248 0.05 0.05 0.052 0.0403355 0.1272 NA 0.0562 0.003 0.0317 0.12 NA 0.07 0.002 0.0887 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.646463 NA NA 0.136628 0.029959 NA 0.058 NA 3.647472 1295 10 5203748 5203748 A G ncRNA_intronic AKR1CL1 NA NA NA intronic ENSG00000196326 NA NA NA NA NA 10p15.1 NA NA NA NA rs3750573 0.2 0.2 0.19 0.214457 0.2316 0.1399 0.2709 0.2511 0.184 0.24 0.13 0.23 0.2 0.222 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.690891 NA NA 0.232442 0.239219 NA 0.341 NA 3.6472913 1295 2 48809756 48809756 T C intronic STON1,STON1-GTF2A1L NA NA NA intronic ENSG00000068781,ENSG00000243244 NA NA NA NA NA 2p16.3 NA NA NA NA rs3792235 0.36 0.36 0.363 0.366414 0.3529 0.3919 0.3357 0.3147 0.4458 0.37 0.42 0.29 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 -0.010585 NA NA NA NA NA 0.304 NA 3.6471 1295 19 11332505 11332505 C T intronic DOCK6 NA NA NA intronic ENSG00000130158 NA NA NA NA NA 19p13.2 NA NA NA NA rs3826815 0.18 0.18 0.17 0.173522 0.0885 0.2312 0.1888 0.2103 0.1411 0.09 0.24 0.19 0.22 0.1551 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.56433 NA NA 0.109356 0.187561 NA 0.239 NA 3.647044 1295 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 1295 11 113570405 113570405 T C exonic TMPRSS5 NA synonymous SNV TMPRSS5:NM_030770:exon3:c.A117G:p.A39A exonic ENSG00000166682 NA synonymous SNV ENSG00000166682:ENST00000299882:exon3:c.A117G:p.A39A,ENSG00000166682:ENST00000544634:exon3:c.A117G:p.A39A,ENSG00000166682:ENST00000545579:exon3:c.A90G:p.A30A NA NA 11q23.2 NA NA NA NA rs4936280 0.76 0.76 0.774 0.770767 0.6352 0.749 0.7565 0.9675 0.6769 0.63 0.76 0.76 0.96 0.7316 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 0.143637 NA NA 0.652909 0.919408 NA 0.804 NA 3.6469576 1295 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 1295 12 11000934 11000934 A G ncRNA_intronic PRH1-PRR4 NA NA NA intronic ENSG00000111215 NA NA NA NA NA 12p13.2 NA NA NA NA rs2227296 0.23 0.23 0.225 0.210663 0.2167 0.2093 0.2248 0.2231 0.1789 0.24 0.23 0.21 0.24 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 0.058759 NA NA 0.238322 0.221227 NA 0.29 NA 3.6465113 1295 14 22616547 22616547 A G intergenic OR4E2,DAD1 dist=482309;dist=417260 NA NA exonic ENSG00000211809 NA synonymous SNV ENSG00000211809:ENST00000390457:exon2:c.A288G:p.A96A NA NA 14q11.2 NA NA NA NA rs2293730 0.38 0.38 0.358 0.390176 0.2644 0.626 0.3271 0.3359 0.3947 0.27 0.6 0.36 0.32 0.3267 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.163074 NA NA 0.262811 0.291417 NA 0.203 NA 3.646089 1295 4 47408665 47408665 A G intronic GABRB1 NA NA NA intronic ENSG00000163288 NA NA NA NA NA 4p12 NA NA NA NA rs6287 0.08 0.08 0.07 0.0860623 0.1252 0.004 0.0965 0.1059 0.0961 0.12 0.0017 0.09 0.09 0.1076 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.656626 NA NA 0.121512 0.129369 NA 0.13 NA 3.645688 1295 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 1295 5 178293406 178293406 A C intronic ZNF354B NA NA NA intronic ENSG00000178338 NA NA NA NA NA 5q35.3 NA NA NA NA rs111964566 0.13 0.13 0.125 0.118011 0.1213 NA 0.1066 0.2655 0.045 0.12 NA 0.1 0.32 0.1091 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.685875 NA NA 0.124419 0.253291 NA 0.109 NA 3.645181 1295 19 23869823 23869823 T G intronic ZNF675 NA NA NA intronic ENSG00000197372 NA NA NA NA NA 19p12 NA Name=Pol2-4H8,TAF1,GATA-1,ELF1_(SC-631),KAP1,HA-E2F1,Pol2,AP-2alpha,AP-2gamma,TBP,Pol2(b),TCF4,Sin3Ak-20 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 1296 6 130166871 130166871 G T intronic TMEM244 NA NA NA intronic ENSG00000203756 NA NA NA NA NA 6q22.33 NA NA NA NA rs17475221 0.07 0.07 0.052 0.0672923 0.1223 0.0149 0.0807 0.0159 0.1247 0.12 0.02 0.1 0.02 0.1013 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.036407 NA NA 0.131512 0.031775 NA 0.036 NA 3.644888 1296 X 26213219 26213219 T C UTR3 MAGEB6 NM_173523:c.*32T>C NA NA UTR3 ENSG00000176746 ENST00000379034:c.*32T>C NA NA NA NA Xp21.3 NA NA NA NA rs5986312 0.4 0.4 0.39666 NA NA NA NA NA NA 0.36 0.52 0.29 0.4 0.3565 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345989 NA NA 0.332491 0.376207 NA 0.341 NA 3.6443424 1296 12 52307308 52307308 A G intronic ACVRL1 NA NA NA intronic ENSG00000139567 NA NA NA NA NA 12q13.13 NA NA Name=13 NA rs2071219 0.4 0.4 0.419 0.436701 0.4533 0.2708 0.2709 0.593 0.4969 0.45 0.27 0.29 0.56 0.4577 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477954 NA NA 0.444859 0.54326 NA 0.507 NA 3.644141 1296 13 24869062 24869062 A G intronic SPATA13 NA NA NA intronic ENSG00000182957 NA NA NA NA NA 13q12.12 NA NA NA NA rs9553234 0.36 0.36 0.355 0.341054 0.3559 0.3631 0.3343 0.2685 0.4059 0.35 0.41 0.35 0.3 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 0.292289 NA NA NA NA NA 0.362 NA 3.6441 1296 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 1296 1 146643555 146643555 A G intronic PRKAB2 NA NA NA intronic ENSG00000131791 NA NA NA NA NA 1q21.1 NA Name=Pol2,HA-E2F1,YY1_(C-20),c-Myc,ZNF263,BAF155,YY1 NA NA rs1348316 0.64 0.64 0.63 0.669529 0.4384 0.8542 0.5793 0.7489 0.6738 0.43 0.89 0.56 0.75 0.5236 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 0.584828 NA NA 0.39451 0.6775 NA 0.58 NA 3.64349 1296 7 100486035 100486035 C A intronic SRRT NA NA NA intronic ENSG00000087087 NA NA NA NA NA 7q22.1 NA Name=Pol2,Pol2-4H8,HEY1 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 1296 18 55226383 55226383 G C exonic FECH NA synonymous SNV FECH:NM_000140:exon7:c.C798G:p.P266P,FECH:NM_001012515:exon7:c.C816G:p.P272P exonic ENSG00000066926 NA synonymous SNV ENSG00000066926:ENST00000262093:exon7:c.C798G:p.P266P,ENSG00000066926:ENST00000382873:exon7:c.C816G:p.P272P NA NA 18q21.31 NA NA NA NA rs536765 0.72 0.72 0.742 0.749601 0.6421 0.6081 0.6902 0.9758 0.7423 0.66 0.64 0.67 0.97 0.6973 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 0.029439 NA NA 0.683837 0.919428 NA 0.79 NA 3.6434296 1296 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 1296 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 1296 11 34678433 34678433 C T intronic EHF NA NA NA intronic ENSG00000135373 NA NA NA NA NA 11p13 NA NA NA NA rs447228 0.09 0.09 0.078 0.129992 0.1203 0.1329 0.0648 0.0582 0.2802 0.11 0.11 0.08 0.05 0.1379 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 -0.018269 NA NA 0.099 0.057448 NA NA NA 3.6428 1296 1 58996427 58996427 C T intronic OMA1 NA NA NA intronic ENSG00000162600 NA NA NA NA NA 1p32.2 NA NA NA NA rs2271005 0.14 0.14 0.152 0.146965 0.1193 0.1399 0.1023 0.2307 0.1012 0.11 0.14 0.12 0.21 0.1179 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.71284 NA NA 0.120028 0.178847 NA 0.138 NA 3.642772 1296 17 8076911 8076911 A G UTR3 TMEM107 NM_183065:c.*610T>C,NM_032354:c.*610T>C NA NA UTR3 ENSG00000179029 ENST00000449985:c.*659T>C NA NA NA NA 17p13.1 NA Name=PU.1,AP-2alpha,CEBPB,BRCA1_(C-1863),YY1,Egr-1,CCNT2,TBP,Pol2(b),ELK4,BHLHE40,eGFP-GATA2,JunD,GTF2F1_(RAP-74),GR,ZNF263,SP1,p300_(N-15),SRF,Oct-2,c-Myc,ZBTB33,YY1_(C-20),GCN5,Max,NRSF,PAX5-C20,STAT3,RXRA,eGFP-JunD,SETDB1,Sin3Ak-20,FOSL1_(SC-183),MEF2A,Pol2-4H8,eGFP-JunB,NFKB,BCL3,TAF1,c-Jun,RFX5_(N-494),ZEB1_(SC-25388),HMGN3,E2F1,GATA-1,BCLAF1_(M33-P5B11),HNF4G_(SC-6558),STAT1,ELF1_(SC-631),KAP1,HEY1,CHD2_(N-1250),USF1_(SC-8983),FOXA1_(SC-101058),POU5F1_(SC-9081),Pol2(phosphoS2),USF-1,FOSL2,Pol2,GTF2B,POU2F2,TAF7_(SQ-8),HDAC2_(SC-6296),p300,TCF12 NA NA rs11655582 0.69 0.69 NA 0.66853 0.8797 0.5238 0.7925 0.444 0.816 0.89 0.56 0.81 0.45 0.8109 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 -0.242268 NA NA NA NA NA 0.645 NA 3.6427334 1296 21 15755349 15755349 T C intronic HSPA13 NA NA NA intronic ENSG00000155304 NA NA NA NA NA 21q11.2 NA Name=Pol2,GATA-2,HA-E2F1,Ini1,CTCF,TAF1,NFKB,Pol2-4H8,HEY1,GATA3_(SC-268),eGFP-JunD,BAF170,TBP,c-Fos,ZBTB7A_(SC-34508),JunD NA NA rs7281846 0.54 0.54 0.515 0.537939 0.6869 0.5516 0.4726 0.4274 0.5665 0.68 0.51 0.47 0.41 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 0.286174 NA NA 0.670647 0.456647 ID=COSN166619;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.42 NA 3.642453 1296 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 1296 15 78423479 78423479 T C intronic CIB2 NA NA NA intronic ENSG00000136425 NA NA NA NA NA 15q25.1 NA NA Name=3 NA rs8040395 0.41 0.41 0.418 0.41254 0.4622 0.2589 0.3401 0.4909 0.4652 0.46 0.29 0.42 0.48 0.4642 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.892302 NA NA 0.431414 0.467532 NA 0.283 NA 3.642186 1296 17 16336828 16336828 G A intronic TRPV2 NA NA NA intronic ENSG00000187688 NA NA NA NA NA 17p11.2 NA NA NA NA rs7213055 0.32 0.32 0.302 0.277556 0.3579 0.2222 0.3343 0.2761 0.2137 0.35 0.25 0.38 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 0.320294 NA NA NA NA NA 0.304 NA 3.6421 1296 5 177688772 177688772 G A intronic COL23A1 NA NA NA intronic ENSG00000050767 NA NA NA Score=349;Name=lod=35 NA 5q35.3 NA NA NA NA rs2973745 0.32 0.32 0.278 0.315296 0.4463 0.1806 0.4986 0.211 0.3303 0.44 0.15 0.5 0.21 0.4267 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.476922 2.476922 NA 0.484914 0.25849 NA 0.348 NA 3.642086 1296 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 1296 10 124402944 124402944 G A UTR3 DMBT1 NM_004406:c.*30G>A,NM_007329:c.*30G>A,NM_017579:c.*30G>A NA NA UTR3 ENSG00000187908 ENST00000368956:c.*30G>A,ENST00000368955:c.*30G>A,ENST00000368909:c.*30G>A,ENST00000330163:c.*30G>A,ENST00000344338:c.*30G>A,ENST00000338354:c.*30G>A,ENST00000359586:c.*30G>A NA NA NA NA 10q26.13 NA NA NA NA rs8441 0.23 0.23 0.234 0.236821 0.2227 0.1419 0.2003 0.4168 0.1319 0.22 0.16 0.19 0.37 0.2533 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003253 NA NA 0.215682 0.363821 NA 0.326 NA 3.6416514 1296 6 32630055 32630055 T C intronic HLA-DQB1 NA NA NA ncRNA_intronic ENSG00000241287 NA NA NA NA NA 6p21.32 NA NA NA NA rs9274045 NA NA NA 0.316893 0.3101 0.3601 0.2435 0.3253 0.32 NA NA NA NA 0.3816 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.880736 NA NA NA NA NA 0.152 NA 3.6416333 1296 14 22631678 22631678 C T intergenic OR4E2,DAD1 dist=497440;dist=402129 NA NA exonic ENSG00000211810 NA synonymous SNV ENSG00000211810:ENST00000390458:exon2:c.C270T:p.V90V NA NA 14q11.2 NA NA NA NA rs2075493 0.35 0.35 0.332 0.363219 0.2495 0.6141 0.3156 0.2693 0.3824 0.24 0.59 0.35 0.26 0.3318 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.116216 NA NA 0.277187 0.258783 NA 0.283 NA 3.641513 1296 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 1296 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 1296 17 42930859 42930859 G A intronic EFTUD2 NA NA NA intronic ENSG00000108883 NA NA NA NA NA 17q21.31 NA NA NA NA rs78620114 0.09 0.09 0.09 0.0976438 0.1262 0.1339 0.0807 0.0242 0.1421 0.12 0.12 0.09 0.02 0.109 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 -0.048241 NA NA 0.124186 0.038811 NA 0.138 NA 3.640614 1296 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 1296 10 7866576 7866576 A T intronic TAF3 NA NA NA intronic ENSG00000165632 NA NA NA NA NA 10p14 NA NA NA NA rs1244472 0.33 0.33 0.347 0.367212 0.3598 0.2748 0.3703 0.3434 0.5 0.36 0.25 0.33 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 -1.020128 NA NA NA NA ID=COSN163553;OCCURENCE=1(breast) 0.377 NA 3.6402 1296 17 42932244 42932244 C T intronic EFTUD2 NA NA NA intronic ENSG00000108883 NA NA NA NA NA 17q21.31 NA NA NA NA rs2289672 0.15 0.15 0.143 0.13738 0.1223 0.1369 0.0937 0.2156 0.0787 0.12 0.13 0.09 0.25 0.1165 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287742 NA NA 0.121163 0.212211 ID=COSN165439;OCCURENCE=1(breast) 0.196 NA 3.640037 1296 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 1296 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 1296 3 46000870 46000870 G A intronic FYCO1 NA NA NA intronic ENSG00000163820 NA NA NA NA NA 3p21.31 NA NA NA NA rs13069079 0.06 0.06 0.054 0.106829 0.1213 0.004 0.0576 0.0045 0.3712 0.14 NA 0.05 0.01 0.129 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.117536 NA NA 0.11 0.022469 NA 0.043 NA 3.6397 1296 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 1296 X 100532985 100532985 T C intronic TAF7L NA NA NA intronic ENSG00000102387 NA NA NA NA NA Xq22.1 NA NA NA NA rs3788764 0.35 0.35 0.38076 NA NA NA NA NA NA 0.36 0.29 0.27 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 -1.071259 NA NA 0.360858 0.403121 NA 0.246 NA 3.639142 1296 17 29130880 29130880 G C intronic CRLF3 NA NA NA intronic ENSG00000176390 NA NA NA NA NA 17q11.2 NA NA NA NA rs3794796 0.13 0.13 0.122 0.147564 0.1074 0.1359 0.1873 0.0825 0.2607 0.1 0.16 0.18 0.11 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 -1.113846 NA NA 0.115465 0.09192 NA 0.152 NA 3.638535 1296 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 1296 6 34741174 34741174 C T intronic SNRPC NA NA NA intronic ENSG00000124562 NA NA NA NA NA 6p21.31 NA NA NA NA rs11968954 0.14 0.14 0.141 0.14377 0.1352 0.1329 0.1081 0.2141 0.0941 0.12 0.13 0.12 0.21 0.1149 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.657994 NA NA 0.111512 0.196591 NA 0.174 NA 3.638388 1296 20 138125 138125 G T UTR5 DEFB127 NM_139074:c.-61G>T NA NA UTR5 ENSG00000088782 ENST00000382388:c.-61G>T NA NA NA NA 20p13 NA NA NA NA rs2298108 0.33 0.33 0.313 0.330471 0.3419 0.5407 0.3473 0.0688 0.4438 0.34 0.49 0.37 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 -1.678071 NA NA 0.353551 0.126445 NA 0.167 NA 3.6378824 1296 5 138861146 138861146 C G exonic TMEM173 NA synonymous SNV TMEM173:NM_198282:exon3:c.G144C:p.V48V exonic ENSG00000184584 NA synonymous SNV ENSG00000184584:ENST00000510817:exon2:c.G144C:p.V48V,ENSG00000184584:ENST00000330794:exon3:c.G144C:p.V48V NA NA 5q31.2 NA NA NA NA rs7447927 0.45 0.45 0.441 0.428514 0.6859 0.375 0.5058 0.0787 0.637 0.69 0.38 0.52 0.11 0.622 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.040952 NA NA 0.721163 0.184294 NA 0.514 NA 3.6376036 1296 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 1296 5 43173567 43173567 A G intronic ZNF131 NA NA NA intronic ENSG00000172262 NA NA NA NA NA 5p12 NA NA NA NA rs3752831 0.11 0.11 0.105 0.117412 0.1243 0.2113 0.0821 0.0461 0.135 0.11 0.17 0.1 0.02 0.1152 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31485 NA NA 0.123461 0.045525 NA 0.072 NA 3.637039 1296 1 238053524 238053524 T C ncRNA_intronic LOC100130331 NA NA NA ncRNA_intronic ENSG00000237250 NA NA NA NA NA 1q43 NA NA NA NA rs538499 0.41 0.41 0.398 0.439097 0.333 0.631 0.3458 0.3275 0.5675 0.32 0.61 0.34 0.38 0.3729 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.387675 NA NA 0.324186 0.338175 NA 0.275 NA 3.6365806 1296 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 1296 2 217069876 217069876 T G intronic XRCC5 NA NA NA intronic ENSG00000079246 NA NA NA NA NA 2q35 NA NA NA NA rs2287561 0.12 0.12 0.129 0.140775 0.1113 0.0685 0.1009 0.2186 0.1687 0.1 0.06 0.12 0.22 0.1324 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.493971 1.493971 NA 0.12093 0.206537 NA 0.138 NA 3.63537 1296 22 44285658 44285658 G A intronic PNPLA5 NA NA NA intronic ENSG00000100341 NA NA NA NA NA 22q13.31 NA NA NA NA rs743934 0.23 0.23 0.233 0.229832 0.1004 0.4643 0.2435 0.1747 0.1861 0.11 0.48 0.19 0.16 0.1652 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.612152 NA NA 0.099186 0.152292 NA 0.123 NA 3.635214 1297 9 140128858 140128858 T A intronic SLC34A3 NA NA NA intronic ENSG00000198569 NA NA NA NA NA 9q34.3 NA NA NA NA rs35535797 0.14 0.14 0.12 0.148762 0.1213 0.2153 0.0605 0.1225 0.2065 0.12 0.21 0.06 0.13 0.1343 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.682507 NA NA 0.110096 0.098624 NA 0.08 NA 3.634304 1297 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 1297 19 55831589 55831589 A G intronic TMEM150B NA NA NA intronic ENSG00000180061 NA NA NA NA NA 19q13.42 NA NA NA NA rs897796 0.31 0.31 0.257 0.354233 0.3658 0.1032 0.415 0.4168 0.4734 0.37 0.07 0.43 0.4 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 -0.206396 NA NA NA NA NA 0.362 NA 3.6342 1297 12 58127967 58127967 G A intronic AGAP2 NA NA NA intronic ENSG00000135439 NA NA NA NA NA 12q14.1 NA NA NA NA rs12422249 0.11 0.11 0.093 0.101837 0.1243 0.0992 0.2522 0.0136 0.0941 0.13 0.12 0.21 0.02 0.1249 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.874439 2.874439 NA 0.117093 0.033364 ID=COSM147557;OCCURENCE=1(stomach) 0.123 NA 3.633707 1297 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 1297 2 36739553 36739553 T C intronic CRIM1 NA NA NA intronic ENSG00000150938 NA NA NA NA NA 2p22.2 NA Name=CCNT2,TAL1_(SC-12984),Pol2-4H8,GATA-2 Name=4 NA rs848526 0.8 0.8 0.812 0.833866 0.7972 0.9881 0.853 0.7602 0.7986 0.74 0.94 0.83 0.7 0.8058 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 0.45058 NA NA 0.763488 0.760781 NA 0.819 NA 3.633512 1297 18 55221648 55221648 T C exonic FECH NA synonymous SNV FECH:NM_000140:exon9:c.A921G:p.P307P,FECH:NM_001012515:exon9:c.A939G:p.P313P exonic ENSG00000066926 NA synonymous SNV ENSG00000066926:ENST00000592699:exon8:c.A822G:p.P274P,ENSG00000066926:ENST00000262093:exon9:c.A921G:p.P307P,ENSG00000066926:ENST00000382873:exon9:c.A939G:p.P313P NA NA 18q21.31 NA NA NA NA rs536560 0.73 0.73 0.754 0.757588 0.6441 0.628 0.6945 0.9735 0.7607 0.66 0.67 0.68 0.97 0.703 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 -0.550744 NA NA 0.686163 0.917839 ID=COSM1130055;OCCURENCE=1(prostate) 0.797 NA 3.6334036 1297 X 229627 229627 C T intronic GTPBP6 NA NA NA intronic ENSG00000178605 NA NA NA NA NA Xp22.33 NA NA NA NA rs7498293 0.19 0.19 0.1566 NA NA NA NA NA NA 0.21 0.16 0.27 0.13 0.1937 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719333 NA NA 0.17291 0.137399 NA 0.181 NA 3.63339 1297 16 72142072 72142072 C T intronic DHX38 NA NA NA intronic ENSG00000140829 NA NA NA NA NA 16q22.2 NA NA NA NA rs8051882 0.44 0.44 0.465 0.478235 0.3668 0.3085 0.3199 0.7852 0.4652 0.36 0.33 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 1.732821 1.732821 NA NA NA NA 0.493 NA 3.6332 1297 13 95714942 95714942 G T intronic ABCC4 NA NA NA intronic ENSG00000125257 NA NA NA NA NA 13q32.1 NA NA NA NA rs11568656 0.07 0.07 0.05 0.0599042 0.1282 0.001 0.1873 0.0023 0.0378 0.12 NA 0.15 0.0041 0.1072 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.488224 NA NA 0.131628 0.028143 NA 0.029 NA 3.632972 1297 13 113681243 113681243 C A intronic MCF2L NA NA NA exonic ENSG00000126217 NA synonymous SNV ENSG00000126217:ENST00000397024:exon4:c.C333A:p.R111R NA NA 13q34 NA NA NA NA rs9549343 0.34 0.34 0.339 0.353035 0.3897 0.2827 0.2795 0.3003 0.5112 0.41 0.28 0.27 0.33 0.439 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.53175 NA NA 0.372046 0.31621 NA 0.471 NA 3.6325873 1297 12 58125438 58125438 T C intronic AGAP2 NA NA NA intronic ENSG00000135439 NA NA NA NA NA 12q14.1 NA NA NA NA rs12307841 0.11 0.11 0.089 0.104633 0.1243 0.0992 0.2536 0.0204 0.0982 0.13 0.11 0.21 0.02 0.1257 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.836953 NA NA 0.117674 0.034725 ID=COSN164291;OCCURENCE=1(breast) 0.123 NA 3.632326 1297 8 22385077 22385077 C G intronic PPP3CC NA NA NA intronic ENSG00000120910 NA NA NA NA NA 8p21.3 NA NA NA NA rs17671456 0.08 0.08 0.054 0.0870607 0.1233 0.002 0.2118 0.0076 0.1564 0.13 0.0017 0.19 0.01 0.1217 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 -0.432547 NA NA 0.12314 0.026555 NA 0.036 NA 3.63186 1297 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 1297 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 1297 X 103268241 103268241 G A ncRNA_UTR5 H2BFWT NA NA NA UTR5 ENSG00000123569 ENST00000217926:c.-9C>T NA NA NA NA Xq22.2 NA NA NA NA rs7885967 0.33 0.33 0.32512 NA NA NA NA NA NA 0.44 0.43 0.32 0.06 0.4388 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.320803 NA NA 0.430271 0.07859 NA 0.138 NA 3.630929 1297 9 139564474 139564474 C G intronic EGFL7 NA NA NA intronic ENSG00000172889 NA NA NA NA NA 9q34.3 NA Name=Pol2,Egr-1 NA NA rs2297537 0.28 0.28 0.238 0.264976 0.4632 0.1736 0.3948 0.0318 0.3783 0.47 0.17 0.39 0.04 0.4264 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.619253 1.619253 NA 0.47957 0.100962 NA 0.181 NA 3.63083 1297 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 1297 10 127753361 127753361 T C intronic ADAM12 NA NA NA intronic ENSG00000148848 NA NA NA NA NA 10q26.2 NA NA NA NA rs2279090 0.15 0.15 0.118 0.170128 0.0984 0.1339 0.2896 0.1815 0.181 0.09 0.14 0.24 0.17 0.1829 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.867823 NA NA 0.08814 0.164548 NA 0.116 NA 3.63056 1297 8 37686749 37686749 A G intronic GPR124 NA NA NA intronic ENSG00000020181 NA NA NA NA Name=Menopause (age at onset) 8p11.23 NA Name=E2F6_(H-50) NA NA rs6468442 0.85 0.85 0.851 0.855232 0.7744 0.871 0.7882 0.9728 0.8108 0.78 0.88 0.78 0.97 0.8134 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 0.031499 NA NA 0.78186 0.942578 NA 0.754 NA 3.63034 1297 8 27729406 27729406 G C UTR3 SCARA5 NM_173833:c.*45C>G NA NA UTR3 ENSG00000168079 ENST00000354914:c.*45C>G,ENST00000380385:c.*45C>G NA NA NA NA 8p21.1 NA NA NA NA rs71519658 0.17 0.17 0.161 0.166733 0.2515 0.0208 0.1859 0.1967 0.1759 0.25 0.03 0.21 0.17 0.2109 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.662882 1.662882 NA 0.24093 0.206764 NA 0.174 NA 3.6300034 1297 19 15739597 15739597 A C exonic CYP4F8 NA unknown UNKNOWN ncRNA_exonic ENSG00000186526 NA NA NA Score=352;Name=lod=36 NA 19p13.12 NA NA NA NA rs2056822 0.74 0.74 0.711 0.71246 0.7296 0.7173 0.755 0.7602 0.5951 0.73 0.71 0.75 0.8 0.7341 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 -0.446928 NA NA 0.739746 0.737913 NA 0.688 NA 3.6298873 1297 21 30354610 30354610 T C intronic LTN1 NA NA NA intronic ENSG00000198862 NA NA NA NA NA 21q21.3 NA NA NA NA rs2832150 0.2 0.2 0.156 0.153355 0.1233 0.3829 0.2233 0.0424 0.0481 0.13 0.41 0.2 0.04 0.1332 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.582817 2.582817 NA 0.113837 0.063096 NA 0.094 NA 3.629663 1297 19 44947050 44947050 T C UTR5 ZNF229 NM_014518:c.-19A>G NA NA ncRNA_exonic ENSG00000267188 NA NA NA NA NA 19q13.31 NA NA NA NA rs204548 0.16 0.16 0.147 0.140974 0.326 0.002 0.1657 0.0832 0.1544 0.33 0.0017 0.17 0.09 0.2364 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.612273 NA NA 0.308234 0.132642 NA 0.239 NA 3.629366 1297 19 20150125 20150125 T C intronic ZNF682 NA NA NA intronic ENSG00000197124 NA NA NA NA NA 19p12 NA Name=TBP,YY1_(C-20),HEY1,ELF1_(SC-631),GABP,NFKB,TAF1,c-Jun,TAF7_(SQ-8),Pol2 Name=26 NA rs2286921 0.72 0.72 0.706 0.752995 0.8012 0.5466 0.7939 0.7617 0.8753 0.79 0.52 0.82 0.75 0.7809 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 1.904597 1.904597 NA 0.788538 0.765726 NA 0.797 NA 3.629362 1297 17 45890898 45890898 A G intronic OSBPL7 NA NA NA intronic ENSG00000006025 NA NA NA NA NA 17q21.32 NA NA NA NA rs55928544 0.24 0.24 0.212 0.207268 0.3708 0.0308 0.2536 0.1974 0.2014 0.38 0.02 0.31 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 0.564585 NA NA NA NA NA 0.254 NA 3.6292 1297 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 1297 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 1297 2 179341953 179341953 G A ncRNA_intronic MIR548N NA NA NA intronic ENSG00000079150 NA NA NA NA NA 2q31.2 NA NA NA NA rs6704545 0.4 0.4 0.394 0.433906 0.2147 0.6736 0.2392 0.5628 0.3763 0.22 0.64 0.22 0.55 0.292 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.964288 2.964288 NA 0.197674 0.535633 NA 0.37 NA 3.6289593 1297 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 1297 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 1297 20 13753124 13753124 A C intronic ESF1 NA NA NA intronic ENSG00000089048 NA NA NA NA NA 20p12.1 NA NA NA NA rs2274674 0.23 0.23 0.228 0.244409 0.1064 0.4504 0.1787 0.2095 0.2679 0.12 0.42 0.17 0.23 0.1665 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.211615 NA NA 0.099325 0.205856 NA 0.138 NA 3.627775 1297 1 112031278 112031278 G T intronic ADORA3 NA NA NA intronic ENSG00000121933 NA NA NA NA NA 1p13.2 NA NA NA NA rs41282516 0.08 0.08 0.073 0.0583067 0.1392 0.001 0.0836 0.059 0.0153 0.15 0.0017 0.09 0.05 0.0977 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169293 NA NA 0.135349 0.057422 NA 0.036 NA 3.627751 1297 17 48270098 48270098 G A intronic COL1A1 NA NA NA intronic ENSG00000108821 NA NA NA NA NA 17q21.33 NA NA NA NA rs1800695 0.08 0.08 0.088 0.067492 0.1382 NA 0.1009 0.0628 0.047 0.14 NA 0.09 0.09 0.1031 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440095 NA NA 0.131163 0.075579 NA 0.072 NA 3.627537 1297 2 63170905 63170905 A G intronic EHBP1 NA NA NA intronic ENSG00000115504 NA NA NA NA NA 2p15 NA NA NA NA rs75746135 0.07 0.07 0.062 0.0650958 0.1153 0.0357 0.0807 0.0227 0.09 0.12 0.03 0.07 0.02 0.1153 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.512064 2.512064 NA 0.14201 0.041988 NA 0.152 NA 3.62739 1297 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 1297 22 27019128 27019128 C T intronic CRYBA4 NA NA NA intronic ENSG00000196431 NA NA NA NA NA 22q12.1 NA NA NA NA rs2071860 0.36 0.36 0.329 0.35004 0.3728 0.378 0.5029 0.1589 0.4479 0.38 0.38 0.5 0.21 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 -0.065895 NA NA NA NA NA 0.319 NA 3.6272 1297 7 150708089 150708089 A G intronic NOS3 NA NA NA intronic ENSG00000164867 NA NA NA NA NA 7q36.1 NA Name=YY1,ZBTB7A_(SC-34508),USF-1,E2F6_(H-50) Name=4 NA rs891512 0.88 0.88 0.881 0.888379 0.7505 0.9454 0.8602 0.9894 0.8548 0.77 0.95 0.83 0.99 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 0.327293 NA NA 0.778488 0.957785 NA 0.826 NA 3.626912 1297 12 94769758 94769758 A G exonic CCDC41 NA synonymous SNV CCDC41:NM_001042399:exon7:c.T837C:p.R279R,CCDC41:NM_016122:exon8:c.T837C:p.R279R exonic ENSG00000173588 NA synonymous SNV ENSG00000173588:ENST00000339839:exon7:c.T837C:p.R279R,ENSG00000173588:ENST00000397807:exon7:c.T738C:p.R246R,ENSG00000173588:ENST00000397809:exon8:c.T837C:p.R279R,ENSG00000173588:ENST00000547232:exon8:c.T738C:p.R246R,ENSG00000173588:ENST00000547575:exon8:c.T837C:p.R279R NA NA 12q22 NA NA NA NA rs4761611 0.83 0.83 0.844 0.833666 0.667 0.9633 0.7767 0.9864 0.7055 0.68 0.98 0.74 0.98 0.7261 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 -0.175218 NA NA 0.646857 0.932208 NA 0.717 NA 3.6267096 1297 17 54450038 54450038 C A exonic ANKFN1 NA synonymous SNV ANKFN1:NM_153228:exon6:c.C642A:p.L214L exonic ENSG00000153930 NA synonymous SNV ENSG00000153930:ENST00000318698:exon6:c.C642A:p.L214L,ENSG00000153930:ENST00000566473:exon6:c.C642A:p.L214L NA NA 17q22 NA NA NA NA rs957724 0.67 0.67 0.628 0.615615 0.7038 0.9573 0.755 0.2005 0.635 0.7 0.95 0.73 0.24 0.6653 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 0.543348 NA NA 0.67093 0.271675 NA 0.674 NA 3.6266366 1297 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 1297 X 100514986 100514986 G A intronic DRP2 NA NA NA intronic ENSG00000102385 NA NA NA NA NA Xq22.1 NA NA NA NA rs5967281 0.44 0.44 0.47297 NA NA NA NA NA NA 0.37 0.29 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 0.578818 NA NA 0.373672 0.732017 NA 0.319 NA 3.626328 1297 16 68381516 68381516 G A intronic PRMT7 NA NA NA intronic ENSG00000132600 NA NA NA NA NA 16q22.1 NA NA NA NA rs7190134 0.12 0.12 0.125 0.131589 0.1292 0.0734 0.0893 0.1815 0.1564 0.13 0.08 0.1 0.14 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 0.856266 NA NA 0.11907 0.171065 NA 0.138 NA 3.62613 1297 22 23055533 23055533 G A intergenic GGTLC2,MIR650 dist=65165;dist=109737 NA NA exonic ENSG00000211662 NA nonsynonymous SNV ENSG00000211662:ENST00000390308:exon3:c.G196A:p.V66I NA NA 22q11.22 NA NA NA NA rs4446155 0.52 0.52 0.516 0.484824 0.4155 0.7411 0.3948 0.4455 0.409 0.43 0.77 0.41 0.45 0.4161 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 -0.771589 NA 1 0.37564 0.439005 NA 0.159 NA 3.6260934 1297 7 48682996 48682996 C G intronic ABCA13 NA NA NA intronic ENSG00000179869 NA NA NA NA NA 7p12.3 NA NA NA NA rs28610321 0.16 0.16 0.138 0.169129 0.1302 0.2113 0.1297 0.1551 0.2127 0.14 0.25 0.13 0.11 0.1364 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.752187 NA NA 0.107406 0.132852 NA 0.138 NA 3.625994 1297 2 61180288 61180288 C T intronic PUS10 NA NA NA intronic ENSG00000162927 NA NA NA NA NA 2p16.1 NA NA NA NA rs76770165 0.09 0.09 0.081 0.0676917 0.1213 0.0139 0.0836 0.0817 0.0378 0.13 0.04 0.1 0.08 0.1042 0.15 NA NA 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 0.148523 0.102634 NA 0.058 NA 3.625977 1297 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 1297 3 195937629 195937629 G A intronic ZDHHC19 NA NA NA intronic ENSG00000163958 NA NA NA NA NA 3q29 NA NA NA NA rs115997786 0.09 0.09 0.098 0.0850639 0.1372 0.0565 0.0807 0.0946 0.0511 0.13 0.07 0.07 0.07 0.1115 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.458468 NA NA 0.12588 0.097077 NA 0.101 NA 3.62542 1297 4 39510175 39510175 G A intronic UGDH NA NA NA intronic ENSG00000109814 NA NA NA NA NA 4p14 NA NA NA NA rs6815780 0.27 0.27 0.284 0.296526 0.1044 0.4067 0.1657 0.5212 0.1697 0.11 0.37 0.15 0.51 0.1717 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.052178 2.052178 NA 0.098837 0.461416 NA 0.254 NA 3.625063 1298 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 1298 7 116140524 116140524 G T intronic CAV2 NA NA NA UTR3 ENSG00000105971 ENST00000393480:c.*19G>T NA NA NA NA 7q31.2 NA NA Name=120 NA rs2270188 0.54 0.54 0.498 0.546126 0.5189 0.7778 0.5692 0.3585 0.5726 0.52 0.75 0.54 0.33 0.5352 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 1.67651 1.67651 NA 0.48814 0.391966 NA 0.377 NA 3.6244267 1298 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 1298 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 1298 9 84235798 84235798 G A intronic TLE1 NA NA NA intronic ENSG00000196781 NA NA NA NA NA 9q21.32 NA NA NA NA rs11139343 0.15 0.15 0.136 0.147764 0.1839 0.2659 0.1095 0.031 0.1738 0.19 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 2.220471 2.220471 NA 0.192366 0.053653 NA 0.116 NA 3.623734 1298 1 120285546 120285546 G A exonic PHGDH NA synonymous SNV PHGDH:NM_006623:exon11:c.G1326A:p.T442T exonic ENSG00000092621 NA synonymous SNV ENSG00000092621:ENST00000369407:exon10:c.G1224A:p.T408T,ENSG00000092621:ENST00000369409:exon11:c.G1326A:p.T442T NA NA 1p12 NA NA NA NA rs543703 0.7 0.7 0.7 0.722244 0.668 0.622 0.7478 0.7716 0.7965 0.64 0.63 0.76 0.84 0.6924 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 -0.661504 NA NA 0.682558 0.751929 NA 0.797 NA 3.6237086 1298 4 39511359 39511359 T C intronic UGDH NA NA NA intronic ENSG00000109814 NA NA NA NA NA 4p14 NA NA NA NA rs6531722 0.27 0.27 0.304 0.296526 0.1044 0.4067 0.1657 0.5212 0.1697 0.11 0.37 0.15 0.51 0.1732 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434561 NA NA 0.098767 0.461416 NA 0.261 NA 3.623633 1298 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 1298 19 4288184 4288184 C T intronic SHD NA NA NA intronic ENSG00000105251 NA NA NA NA NA 19p13.3 NA NA NA NA rs2380178 0.46 0.46 0.467 0.482827 0.3767 0.3383 0.5548 0.6203 0.5041 0.38 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 -0.098446 NA NA NA NA NA 0.594 NA 3.6233 1298 15 76632907 76632907 A G intronic ISL2 NA NA NA ncRNA_intronic ENSG00000259514 NA NA NA NA NA 15q24.3 NA Name=SUZ12 Name=78 NA rs7180257 0.86 0.86 0.828 0.860423 0.8976 0.9187 0.9395 0.702 0.9202 0.89 0.91 0.94 0.7 0.8941 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 0.518401 NA NA 0.918355 0.772167 NA 0.551 NA 3.6232783 1298 9 137622039 137622039 G A intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA Name=4 NA rs3128598 0.44 0.44 0.379 0.408746 0.4632 0.4762 0.6297 0.1785 0.4376 0.46 0.49 0.6 0.22 0.459 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274243 NA NA 0.454767 0.207444 NA 0.355 NA 3.623033 1298 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 1298 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 1298 19 36577579 36577579 C T intronic WDR62 NA NA NA intronic ENSG00000075702 NA NA NA NA NA 19q13.12 NA NA NA NA rs4806263 0.11 0.11 0.117 0.120807 0.1342 NA 0.072 0.2549 0.0849 0.13 NA 0.09 0.23 0.1417 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.755961 NA NA 0.10186 0.220708 NA 0.152 NA 3.62224 1298 15 92988165 92988165 C T intronic ST8SIA2 NA NA NA intronic ENSG00000140557 NA NA NA NA NA 15q26.1 NA NA NA NA rs11637874 0.17 0.17 0.172 0.190495 0.1044 0.0258 0.111 0.4834 0.1094 0.11 0.02 0.1 0.49 0.142 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.565378 NA NA 0.131554 0.408177 NA 0.167 NA 3.622046 1298 12 53165862 53165862 C T intronic KRT76 NA NA NA intronic ENSG00000185069 NA NA NA NA NA 12q13.13 NA NA NA NA rs12296490 0.16 0.16 0.161 0.198482 0.1024 0.0972 0.1167 0.3003 0.3221 0.09 0.11 0.13 0.34 0.1536 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.262948 NA NA 0.122326 0.312528 NA 0.13 NA 3.621674 1298 14 65507654 65507654 C T intronic CHURC1-FNTB,FNTB,MAX NA NA NA intronic ENSG00000125952,ENSG00000125954,ENSG00000257365 NA NA NA NA NA 14q23.3 NA NA NA NA rs45563031 0.08 0.08 0.061 0.0648962 0.1312 0.006 0.196 0.0068 0.0429 0.13 0.0035 0.17 0.01 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 0.909314 NA NA 0.130233 0.024512 NA 0.196 NA 3.621367 1298 2 219609995 219609995 G C intronic TTLL4 NA NA NA intronic ENSG00000135912 NA NA NA NA NA 2q35 NA Name=c-Myc,Max,eGFP-JunD,Pol2 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 1298 14 20872740 20872740 G A intronic TEP1 NA NA NA intronic ENSG00000129566 NA NA NA NA NA 14q11.2 NA NA NA NA rs2275009 0.19 0.19 0.175 0.213858 0.1203 0.3194 0.1715 0.2163 0.228 0.12 0.28 0.18 0.21 0.1604 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.280746 NA NA 0.098488 0.209033 NA 0.159 NA 3.620812 1298 5 41000343 41000343 G A exonic MROH2B NA synonymous SNV MROH2B:NM_173489:exon39:c.C4461T:p.Y1487Y exonic ENSG00000171495 NA synonymous SNV ENSG00000171495:ENST00000506092:exon29:c.C3126T:p.Y1042Y,ENSG00000171495:ENST00000399564:exon39:c.C4461T:p.Y1487Y NA NA 5p13.1 NA NA NA NA rs1001420 0.67 0.67 0.672 0.636781 0.6809 0.7143 0.6254 0.6036 0.5644 0.69 0.68 0.63 0.63 0.662 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 -1.206704 NA NA 0.703049 0.63172 ID=COSM149821;OCCURENCE=1(stomach) 0.609 NA 3.6207176 1298 18 12353178 12353178 A T intronic AFG3L2 NA NA NA intronic ENSG00000141385 NA NA NA NA NA 18p11.21 NA NA NA NA rs9966470 0.13 0.13 0.135 0.123003 0.1402 0.1478 0.1744 0.0545 0.136 0.14 0.18 0.15 0.05 0.1233 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.236421 1.236421 NA 0.116047 0.05379 NA 0.181 NA 3.620453 1298 9 32408496 32408496 C G intronic ACO1 NA NA NA intronic ENSG00000122729 NA NA NA NA NA 9p21.1 NA NA NA NA rs10123372 0.11 0.11 0.102 0.0930511 0.1272 0.0466 0.0994 0.1392 0.0389 0.14 0.04 0.1 0.13 0.117 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.228189 NA NA 0.135349 0.12778 NA 0.174 NA 3.620451 1298 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 1298 20 43043095 43043095 G A intronic HNF4A NA NA NA intronic ENSG00000101076 NA NA NA NA NA 20q13.12 NA NA NA NA rs3212195 0.15 0.15 0.129 0.142772 0.1829 0.0099 0.1974 0.2088 0.1104 0.17 0.01 0.2 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 0.51894 NA NA 0.196886 0.208904 NA 0.246 NA 3.620214 1298 9 131298590 131298590 A G intronic GLE1 NA NA NA ncRNA_intronic ENSG00000228395 NA NA NA NA NA 9q34.11 NA NA NA NA rs3763600 0.32 0.32 0.253 0.347045 0.2465 0.4782 0.2378 0.3759 0.3538 0.25 0.44 0.22 0.37 0.268 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.543007 NA NA 0.19907 0.386064 NA 0.326 NA 3.6197633 1298 9 137622033 137622033 A G intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA Name=4 NA rs3124308 0.43 0.43 0.376 0.408147 0.4652 0.4762 0.6297 0.1747 0.4376 0.46 0.49 0.6 0.21 0.4593 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020212 NA NA 0.45592 0.206537 NA 0.355 NA 3.61958 1298 19 11333596 11333596 T C intronic DOCK6 NA NA NA intronic ENSG00000130158 NA NA NA NA NA 19p13.2 NA NA NA NA rs3810308 0.18 0.18 0.157 0.176118 0.0885 0.2341 0.1974 0.2126 0.1421 0.09 0.24 0.19 0.23 0.18 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.018062 NA NA 0.111923 0.192682 NA 0.246 NA 3.619577 1298 3 69113153 69113153 T C intronic UBA3 NA NA NA intronic ENSG00000144744 NA NA NA NA NA 3p14.1 NA NA NA NA rs13090606 0.23 0.23 0.228 0.226238 0.1958 0.3353 0.1354 0.1952 0.2515 0.2 0.35 0.14 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 -0.488893 NA NA 0.184741 0.182803 NA 0.239 NA 3.619459 1298 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 1298 11 56043702 56043702 G C exonic OR5T1 NA synonymous SNV OR5T1:NM_001004745:exon1:c.G588C:p.L196L exonic ENSG00000181698 NA synonymous SNV ENSG00000181698:ENST00000313033:exon1:c.G588C:p.L196L NA NA 11q12.1 NA NA NA NA rs7125697 0.74 0.74 0.696 0.765775 0.6779 0.8343 0.7233 0.7587 0.8252 0.67 0.81 0.74 0.76 0.7123 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 -0.524068 NA NA 0.657821 0.722399 NA 0.804 NA 3.6186456 1298 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 1298 2 71429750 71429750 A T intronic PAIP2B NA NA NA intronic ENSG00000124374 NA NA NA NA NA 2p13.3 NA NA NA NA rs35398551 0.1 0.1 0.092 0.0996406 0.1451 0.001 0.0533 0.1694 0.093 0.15 NA 0.07 0.14 0.1121 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.835082 2.835082 NA 0.124234 0.145913 NA 0.123 NA 3.618566 1298 2 161797513 161797513 A G intergenic RBMS1,TANK dist=447195;dist=195953 NA NA intergenic ENSG00000244372,ENSG00000232337 dist=63154;dist=107604 NA NA NA NA 2q24.2 NA Name=NFKB,CEBPB Name=56 NA rs1524625 0.55 0.55 0.537 0.569688 0.5676 0.4673 0.7017 0.562 0.5941 0.56 0.48 0.66 0.55 0.592 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 -0.349507 NA NA 0.555249 0.544521 NA 0.551 NA 3.6184844 1298 12 121757660 121757660 G A intronic ANAPC5 NA NA NA intronic ENSG00000089053 NA NA NA NA NA 12q24.31 NA NA NA NA rs2942064 0.28 0.28 0.294 0.335663 0.0865 0.1756 0.1873 0.7602 0.2883 0.08 0.18 0.17 0.77 0.1885 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 0.087696 NA NA 0.106868 0.659763 NA 0.261 NA 3.618132 1298 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 1298 3 195479226 195479226 G A intronic MUC4 NA NA NA intronic ENSG00000145113 NA NA NA NA NA 3q29 NA NA NA NA rs6792437 0.09 0.09 0.087 0.0878594 0.1451 0.001 0.0764 0.1392 0.0573 0.13 NA 0.09 0.14 0.1044 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506028 NA NA 0.133023 0.130504 NA 0.203 NA 3.617477 1298 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 1298 5 177483118 177483118 T C intergenic FAM153C,N4BP3 dist=7030;dist=57438 NA NA ncRNA_exonic ENSG00000218227 NA NA NA Score=782;Name=lod=2001 NA 5q35.3 NA NA NA NA rs11953798 0.49 0.49 0.473 0.505391 0.4592 0.5308 0.5144 0.5242 0.4949 0.47 0.52 0.5 0.5 0.4826 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.779956 NA 1 0.441457 0.458444 NA 0.377 NA 3.616743 1298 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 1298 19 50338453 50338453 C T intronic MED25 NA NA NA intronic ENSG00000104973 NA NA NA NA NA 19q13.33 NA NA NA NA rs752522 0.11 0.11 0.105 0.0896565 0.1252 0.1369 0.0836 0.0393 0.0767 0.13 0.13 0.09 0.05 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 1.313733 1.313733 NA 0.144186 0.072401 NA 0.058 NA 3.616314 1298 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 1298 3 194369579 194369579 C A intronic LSG1 NA NA NA intronic ENSG00000041802 NA NA NA NA NA 3q29 NA NA NA NA rs3821402 0.12 0.12 0.06 0.155351 0.163 0.1875 0.1686 0.0378 0.2638 0.12 0.17 0.15 0.03 0.1682 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.028518 NA NA 0.052558 0.021788 NA NA NA 3.616242 1299 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 1299 3 194369580 194369580 C A intronic LSG1 NA NA NA intronic ENSG00000041802 NA NA NA NA NA 3q29 NA NA NA NA rs3821403 0.12 0.12 0.059 0.155351 0.163 0.1875 0.1686 0.0378 0.2638 0.12 0.17 0.15 0.03 0.1682 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312454 NA NA 0.054535 0.022015 NA NA NA 3.614265 1299 7 7480382 7480382 A G intronic COL28A1 NA NA NA intronic ENSG00000215018 NA NA NA NA NA 7p21.3 NA NA NA NA rs16878052 0.18 0.18 0.181 0.20607 0.1203 0.1696 0.1614 0.3601 0.1554 0.11 0.15 0.18 0.32 0.1474 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.14766 NA NA 0.118305 0.293603 NA 0.159 NA 3.613995 1299 16 24895361 24895361 C T intronic SLC5A11 NA NA NA intronic ENSG00000158865 NA NA NA NA NA 16p12.1 NA NA NA NA rs72770465 0.08 0.08 0.057 0.0840655 0.1491 NA 0.0692 0.0416 0.1718 0.15 NA 0.07 0.05 0.1117 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.398416 1.398416 NA 0.125233 0.047792 NA 0.094 NA 3.613967 1299 16 2871555 2871555 G A exonic PRSS21 NA synonymous SNV PRSS21:NM_006799:exon6:c.G894A:p.P298P,PRSS21:NM_144956:exon6:c.G888A:p.P296P,PRSS21:NM_144957:exon6:c.G852A:p.P284P exonic ENSG00000007038 NA synonymous SNV ENSG00000007038:ENST00000005995:exon6:c.G894A:p.P298P,ENSG00000007038:ENST00000450020:exon6:c.G852A:p.P284P,ENSG00000007038:ENST00000455114:exon6:c.G888A:p.P296P NA NA 16p13.3 NA NA NA NA rs10641 0.66 0.66 0.686 0.667931 0.6829 0.6706 0.6254 0.6952 0.6431 0.68 0.65 0.64 0.68 0.6767 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.266063 NA NA 0.69314 0.707689 NA 0.522 NA 3.6139266 1299 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 1299 9 125777927 125777927 T C intronic RABGAP1 NA NA NA intronic ENSG00000011454 NA NA NA NA NA 9q33.2 NA NA NA NA rs673977 0.07 0.07 0.048 0.0421326 0.1312 NA 0.0677 0.0113 0.0174 0.13 NA 0.1 0.02 0.1089 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.116153 NA NA 0.146047 0.024285 NA 0.094 NA 3.613853 1299 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 1299 19 52627349 52627349 C T intronic ZNF616 NA NA NA intronic ENSG00000204611 NA NA NA NA NA 19q13.41 NA NA NA NA rs8100114 0.28 0.28 0.276 0.358027 0.0954 0.1835 0.2536 0.733 0.3753 0.08 0.2 0.27 0.68 0.1925 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.292701 NA NA 0.098511 0.617099 NA 0.348 NA 3.613589 1299 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 1299 X 132549013 132549013 G A UTR5 GPC4 NM_001448:c.-20C>T NA NA UTR5 ENSG00000076716 ENST00000370828:c.-20C>T NA NA NA NA Xq26.2 NA NA NA NA rs2073288 0.44 0.44 0.47854 NA NA NA NA NA NA 0.3 0.47 0.3 0.71 0.403 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.568776 NA NA 0.316863 0.663097 NA 0.246 NA 3.6134704 1299 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 1299 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 1299 4 9998605 9998605 T C intronic SLC2A9 NA NA NA intronic ENSG00000109667 NA NA NA NA NA 4p16.1 NA Name=GR,FOXA1_(SC-101058),FOXA1_(C-20),FOSL2 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 1299 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 1299 9 86909082 86909082 A G intronic SLC28A3 NA NA NA intronic ENSG00000197506 NA NA NA NA NA 9q21.33 NA NA NA NA rs10868137 0.13 0.13 0.139 0.134185 0.1312 0.1637 0.2032 0.1006 0.1033 0.13 0.13 0.15 0.12 0.1249 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.693189 NA NA 0.131395 0.095778 NA 0.167 NA 3.612505 1299 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 1299 13 113656216 113656216 C T UTR5 MCF2L NM_024979:c.-9C>T NA NA UTR5 ENSG00000126217 ENST00000423482:c.-9C>T,ENST00000375597:c.-9C>T,ENST00000397024:c.-9C>T NA NA NA NA 13q34 NA Name=Pol2 NA NA rs7986677 0.48 0.48 0.497 0.494409 0.5785 0.3938 0.5216 0.4947 0.4918 0.57 0.38 0.48 0.46 0.5755 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.9775 NA NA 0.567157 0.534208 NA 0.442 NA 3.6121764 1299 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 1299 2 197890001 197890001 C T intronic ANKRD44 NA NA NA intronic ENSG00000065413 NA NA NA NA NA 2q33.1 NA NA NA NA rs62185248 0.12 0.12 0.09 0.103235 0.1312 0.1538 0.1542 0.0136 0.1074 0.13 0.17 0.14 0.03 0.1262 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.839409 2.839409 NA 0.130581 0.028824 NA 0.072 NA 3.612019 1299 16 337017 337017 G A intronic PDIA2 NA NA NA intronic ENSG00000185615 NA NA NA NA NA 16p13.3 NA NA NA NA rs449401 0.17 0.17 0.147 0.148363 0.1899 0.0327 0.1225 0.295 0.045 0.18 0.04 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 -0.14338 NA NA 0.19849 0.261022 NA 0.188 NA 3.61161 1299 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 1299 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 1299 20 49458484 49458484 G C intronic BCAS4 NA NA NA intronic ENSG00000124243 NA NA NA NA NA 20q13.13 NA NA NA NA rs2145694 0.11 0.11 0.117 0.131989 0.1332 0.1508 0.0778 0.0855 0.2127 0.12 0.15 0.08 0.1 0.1232 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.690086 NA NA 0.132798 0.108538 NA 0.094 NA 3.610802 1299 6 35216296 35216296 C T intronic SCUBE3 NA NA NA intronic ENSG00000146197 NA NA NA NA NA 6p21.31 NA Name=Pol2,MafK_(ab50322),Egr-1 Name=22 NA rs2071920 0.65 0.65 0.611 0.634984 0.8141 0.6379 0.732 0.2995 0.8323 0.82 0.66 0.74 0.3 0.7656 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 0.585181 NA NA 0.809535 0.385611 NA 0.638 NA 3.610765 1299 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 1299 1 55272643 55272643 C G intronic C1orf177 NA NA NA intronic ENSG00000162398 NA NA NA NA NA 1p32.3 NA NA NA NA rs6666034 0.14 0.14 0.121 0.146965 0.1213 0.1954 0.1628 0.1271 0.1391 0.14 0.17 0.15 0.1 0.1369 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.01338 NA NA 0.131977 0.143441 NA 0.109 NA 3.609823 1299 16 68395675 68395675 G A intronic SMPD3 NA NA NA intronic ENSG00000103056 NA NA NA NA NA 16q22.1 NA NA NA NA rs56899435 0.12 0.12 0.114 0.13738 0.1362 0.0823 0.0994 0.1846 0.1585 0.14 0.09 0.11 0.13 0.1327 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.073162 NA NA 0.121279 0.16879 NA 0.123 NA 3.609821 1299 19 35757469 35757469 A C intronic LSR NA NA NA intronic ENSG00000105699 NA NA NA NA NA 19q13.12 NA NA NA NA rs12459658 0.15 0.15 0.14 0.158746 0.1252 0.1647 0.2147 0.152 0.1564 0.13 0.18 0.22 0.12 0.1489 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.184743 NA NA 0.116163 0.152746 NA 0.174 NA 3.609737 1299 12 49167683 49167683 C A intronic ADCY6 NA NA NA intronic ENSG00000174233 NA NA NA NA NA 12q13.12 NA NA NA NA rs3730074 0.11 0.11 0.126 0.108427 0.1252 0.0248 0.0908 0.1846 0.0869 0.13 0.01 0.1 0.18 0.1234 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 2.454057 2.454057 NA 0.141694 0.190909 NA 0.217 NA 3.609706 1299 2 103120179 103120179 C T intronic SLC9A4 NA NA NA intronic ENSG00000180251 NA NA NA NA NA 2q12.1 NA NA NA NA rs7575867 0.12 0.12 0.118 0.139377 0.1292 0.0258 0.0965 0.2542 0.1421 0.13 0.02 0.09 0.22 0.1253 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248565 NA NA 0.136163 0.251021 NA 0.174 NA 3.609337 1299 17 72297104 72297104 C T intronic DNAI2 NA NA NA intronic ENSG00000171595 NA NA NA NA NA 17q25.1 NA NA NA NA rs34880269 0.26 0.26 0.24 0.252196 0.3907 0.1895 0.2709 0.1293 0.3272 0.41 0.17 0.27 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 -0.365024 NA NA NA NA NA 0.225 NA 3.6093 1299 9 137674391 137674391 A G intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs34489567 0.14 0.14 0.143 0.153155 0.1252 0.1329 0.0821 0.2806 0.0808 0.13 0.1 0.07 0.25 0.1368 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.55204 NA NA 0.129081 0.255137 NA 0.21 NA 3.608919 1299 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 1299 8 131793157 131793157 G C intronic ADCY8 NA NA NA intronic ENSG00000155897 NA NA NA NA NA 8q24.22 NA NA NA NA rs7824494 0.16 0.16 0.138 0.155351 0.1262 0.3036 0.2176 0.028 0.1605 0.13 0.31 0.17 0.02 0.1597 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708173 NA NA 0.105581 0.036995 NA 0.21 NA 3.608519 1299 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 1299 2 127811042 127811042 G A intronic BIN1 NA NA NA intronic ENSG00000136717 NA NA NA NA NA 2q14.3 NA NA NA NA rs76414720 0.11 0.11 0.106 0.132388 0.1362 0.0149 0.0865 0.1868 0.2086 0.13 0.01 0.11 0.19 0.1277 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 -0.512587 NA NA 0.12814 0.179301 NA 0.087 NA 3.60796 1299 9 32466277 32466277 C T intronic DDX58 NA NA NA intronic ENSG00000107201 NA NA NA NA NA 9p21.1 NA NA NA NA rs45589431 0.08 0.08 0.071 0.057508 0.1342 0.0129 0.1009 0.0061 0.0634 0.14 0.02 0.13 0.01 0.1109 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.03979 NA NA 0.146977 0.02769 NA 0.138 NA 3.607923 1299 11 44089161 44089161 G A intronic ACCS NA NA NA intronic ENSG00000110455 NA NA NA NA NA 11p11.2 NA Name=ELF1_(SC-631) Name=8 NA rs178514 0.83 0.83 0.872 0.831869 0.8171 0.8671 0.5951 0.9856 0.771 0.8 0.87 0.64 0.97 0.783 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 0.262581 NA NA 0.792093 0.954834 NA 0.877 NA 3.607807 1299 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 1299 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 1299 4 20611818 20611818 C T intronic SLIT2 NA NA NA intronic ENSG00000145147 NA NA NA NA NA 4p15.31 NA NA NA NA rs35891001 0.18 0.18 0.155 0.161941 0.1292 0.3591 0.2262 0.0257 0.1309 0.13 0.35 0.21 0.04 0.1499 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040389 NA NA 0.113488 0.038357 NA 0.094 NA 3.607412 1299 3 16249998 16249998 A T intronic GALNT15 NA NA NA intronic ENSG00000131386 NA NA NA NA NA 3p25.1 NA NA NA NA rs1505609 0.21 0.21 0.211 0.232628 0.1163 0.1905 0.1873 0.3442 0.2771 0.12 0.2 0.2 0.36 0.1665 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.618093 NA NA 0.109884 0.296187 NA 0.232 NA 3.607316 1299 14 76238203 76238203 G C intronic TTLL5 NA NA NA intronic ENSG00000119685 NA NA NA NA NA 14q24.3 NA NA NA NA rs45480992 0.09 0.09 0.072 0.0830671 0.1441 0.0685 0.1311 0.0386 0.0613 0.14 0.07 0.11 0.04 0.112 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.992718 NA NA 0.137093 0.054017 NA 0.065 NA 3.606807 1299 11 57957960 57957960 T C UTR5 OR9Q2 NM_001005283:c.-3T>C NA NA UTR5 ENSG00000186513 ENST00000311591:c.-3T>C NA NA NA NA 11q12.1 NA NA NA NA rs61902821 0.16 0.16 0.124 0.146166 0.2396 0.0744 0.2637 0.0779 0.1329 0.24 0.09 0.25 0.07 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 0.116805 NA NA 0.25966 0.110404 NA 0.138 NA 3.6067734 1299 8 11167233 11167233 G A intronic MTMR9 NA NA NA intronic ENSG00000104643 NA NA NA NA NA 8p23.1 NA NA NA NA rs7009857 0.07 0.07 0.067 0.0561102 0.1451 NA 0.072 0.0038 0.0818 0.15 NA 0.09 0.01 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 -0.16278 NA NA 0.149186 0.033818 NA 0.029 NA 3.606314 1299 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 1299 X 91456467 91456467 C A intronic PCDH11X NA NA NA intronic ENSG00000102290 NA NA NA NA NA Xq21.31 NA NA NA NA rs4252207 0.2 0.2 0.17568 NA NA NA NA NA NA 0.22 0.19 0.36 0.04 0.2036 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.339011 NA NA 0.190547 0.035202 NA 0.283 NA 3.605853 1299 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 1299 10 1232500 1232500 G A intronic ADARB2 NA NA NA intronic ENSG00000185736 NA NA NA NA NA 10p15.3 NA NA NA NA rs7924253 0.22 0.22 0.199 0.241613 0.1054 0.2857 0.3199 0.261 0.2546 0.11 0.29 0.25 0.27 0.1776 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864958 NA NA 0.111502 0.243721 NA 0.239 NA 3.605498 1299 2 175677022 175677022 C T intronic CHN1 NA NA NA intronic ENSG00000128656 NA NA NA NA NA 2q31.1 NA Name=CEBPB NA NA rs12613075 0.35 0.35 0.311 0.336861 0.4791 0.4633 0.2651 0.0318 0.5235 0.49 0.45 0.31 0.04 0.4335 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.158633 NA NA 0.482087 0.109131 NA 0.29 NA 3.605313 1300 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 1300 17 80869706 80869706 C G intronic TBCD NA NA NA intronic ENSG00000141556 NA NA NA NA NA 17q25.3 NA NA NA NA rs12601746 0.08 0.08 0.074 0.127796 0.1262 0.0913 0.0879 0.003 0.364 0.13 0.08 0.1 0.0041 0.1418 0.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.619968 NA NA 0.127385 0.021004 ID=COSN165555;OCCURENCE=1(NS) 0.058 NA 3.604615 1300 1 145021089 145021089 G A intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs1613515 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3955 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689712 NA NA NA NA NA 0.377 NA 3.6045 1300 1 6196493 6196493 A G intronic CHD5 NA NA NA intronic ENSG00000116254 NA NA NA NA NA 1p36.31 NA NA NA NA rs7526887 0.51 0.51 0.49 0.516973 0.3956 0.7986 0.4683 0.3359 0.6309 0.39 0.81 0.47 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 -0.043836 NA NA NA NA NA 0.413 NA 3.6044 1300 1 6196517 6196517 G A intronic CHD5 NA NA NA intronic ENSG00000116254 NA NA NA NA NA 1p36.31 NA NA NA NA rs7513548 0.51 0.51 0.478 0.516773 0.3956 0.7986 0.4683 0.3351 0.6309 0.39 0.81 0.47 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 0.530605 NA NA NA NA NA 0.413 NA 3.6044 1300 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 1300 7 149317062 149317062 C T ncRNA_exonic ZNF767 NA NA NA ncRNA_exonic ENSG00000133624 NA NA NA NA NA 7q36.1 NA NA NA NA rs1808231 0.27 0.27 0.239 0.239816 0.3738 0.1617 0.2738 0.1467 0.2843 0.39 0.17 0.33 0.17 0.33 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597826 NA 0 0.358953 0.180436 NA 0.341 NA 3.6039136 1300 7 43982482 43982482 A C ncRNA_exonic POLR2J4 NA NA NA ncRNA_exonic ENSG00000214783 NA NA NA NA NA 7p13 NA NA NA NA rs2074727 0.39 0.39 0.401 0.454872 0.3151 0.501 0.3646 0.4697 0.5951 0.32 0.46 0.39 0.43 0.3993 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.722224 NA NA 0.348953 0.429641 NA 0.457 NA 3.6033136 1300 6 29796306 29796306 G A intronic HLA-G NA NA NA intronic ENSG00000204632 NA NA NA NA NA 6p22.1 NA NA Name=2 NA rs1624337 0.5 0.5 0.492 0.543131 0.4324 0.6032 0.4654 0.5038 0.7035 0.42 0.64 0.46 0.5 0.501 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02901 NA NA 0.463333 0.506972 NA 0.572 NA 3.603267 1300 2 113955233 113955233 C T intronic PSD4 NA NA NA intronic ENSG00000125637 NA NA NA NA NA 2q13 NA NA NA NA rs45449699 0.11 0.11 0.099 0.0938498 0.1421 0.0139 0.0778 0.1702 0.0348 0.15 0.01 0.09 0.2 0.1121 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240779 NA NA 0.142791 0.180663 NA 0.123 NA 3.603009 1300 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 1300 2 180810180 180810180 C T exonic CWC22 NA synonymous SNV CWC22:NM_020943:exon20:c.G2403A:p.A801A exonic ENSG00000163510 NA synonymous SNV ENSG00000163510:ENST00000295749:exon20:c.G2403A:p.A801A,ENSG00000163510:ENST00000410053:exon20:c.G2403A:p.A801A NA NA 2q31.3 NA NA NA NA rs6433817 0.62 0.62 0.648 0.606629 0.7117 0.5317 0.4193 0.6142 0.6984 0.71 0.55 0.48 0.66 0.6478 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406683 NA NA 0.70454 0.622982 NA 0.623 NA 3.6026266 1300 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 1300 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 1300 19 49421966 49421966 T C intronic NUCB1 NA NA NA exonic ENSG00000104805 NA synonymous SNV ENSG00000104805:ENST00000452087:exon8:c.T768C:p.A256A NA NA 19q13.33 NA Name=BAF170 NA NA rs2287836 0.59 0.59 0.563 0.611422 0.7535 0.4544 0.7046 0.3903 0.8599 0.76 0.46 0.7 0.41 0.7198 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 0.883212 NA NA 0.75814 0.432365 NA 0.478 NA 3.6018933 1300 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 1300 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 1300 3 19947296 19947296 T C intronic EFHB NA NA NA intronic ENSG00000163576 NA NA NA NA NA 3p24.3 NA NA NA NA rs2929377 0.32 0.32 0.324 0.340855 0.3986 0.1319 0.33 0.4584 0.3456 0.4 0.13 0.29 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 0.836074 NA NA NA NA NA 0.486 NA 3.6014 1300 10 105349816 105349816 G A intronic NEURL NA NA NA intronic ENSG00000107954,ENSG00000107957 NA NA NA NA NA 10q24.33 NA NA NA NA rs2236211 0.35 0.35 0.363 0.40016 0.3986 0.3621 0.428 0.3003 0.5562 0.37 0.3 0.41 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 -0.134034 NA NA NA NA NA 0.304 NA 3.6014 1300 12 31562177 31562177 G A intronic DENND5B NA NA NA intronic ENSG00000170456 NA NA NA NA NA 12p11.21 NA NA NA NA rs16918627 0.13 0.13 0.119 0.125 0.1233 0.248 0.0908 0.0371 0.1431 0.12 0.24 0.1 0.03 0.1739 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1408 NA NA 0.102561 0.03842 NA 0.072 NA 3.600239 1300 19 16601168 16601168 G A intronic CALR3 NA NA NA intronic ENSG00000141979,ENSG00000269058 NA NA NA NA NA 19p13.11 NA NA NA NA rs3810197 0.12 0.12 0.118 0.114018 0.1362 0.1042 0.0937 0.1036 0.1299 0.14 0.09 0.11 0.14 0.1221 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.348057 NA NA 0.141512 0.106219 NA 0.145 NA 3.600188 1300 10 69954290 69954290 G A intronic MYPN NA NA NA intronic ENSG00000138347 NA NA NA NA NA 10q21.3 NA Name=CTCF,YY1,YY1_(C-20) NA NA rs7081213 0.38 0.38 0.366 0.35603 0.4821 0.2401 0.4078 0.2738 0.4202 0.48 0.26 0.44 0.3 0.4404 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.924033 2.924033 NA 0.477442 0.311167 NA 0.348 NA 3.600058 1300 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 1300 7 43917274 43917274 A G exonic URGCP NA synonymous SNV URGCP:NM_017920:exon5:c.T1761C:p.H587H,URGCP:NM_001077663:exon6:c.T1788C:p.H596H,URGCP:NM_001077664:exon6:c.T1659C:p.H553H exonic ENSG00000106608 NA synonymous SNV ENSG00000106608:ENST00000336086:exon4:c.T1659C:p.H553H,ENSG00000106608:ENST00000223341:exon5:c.T1659C:p.H553H,ENSG00000106608:ENST00000402306:exon5:c.T1761C:p.H587H,ENSG00000106608:ENST00000443736:exon6:c.T1659C:p.H553H,ENSG00000106608:ENST00000453200:exon6:c.T1788C:p.H596H,ENSG00000106608:ENST00000447717:exon7:c.T1659C:p.H553H NA NA 7p13 NA NA NA NA rs2232103 0.73 0.73 0.742 0.744609 0.675 0.7282 0.7104 0.7995 0.7832 0.68 0.71 0.74 0.83 0.7098 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 -1.894112 NA NA 0.681928 0.809512 NA 0.754 NA 3.5999386 1300 2 98274527 98274527 G C exonic ACTR1B NA synonymous SNV ACTR1B:NM_005735:exon8:c.C804G:p.V268V exonic ENSG00000115073 NA synonymous SNV ENSG00000115073:ENST00000289228:exon8:c.C804G:p.V268V NA NA 2q11.2 NA NA NA NA rs1042705 0.61 0.61 0.615 0.532348 0.7366 0.371 0.5375 0.7133 0.2403 0.73 0.37 0.58 0.72 0.6071 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 -1.289445 NA NA 0.723256 0.688833 NA 0.717 NA 3.5997106 1300 19 50779988 50779988 A T intronic MYH14 NA NA NA intronic ENSG00000105357 NA NA NA NA NA 19q13.33 NA Name=CTCF NA NA rs788337 0.41 0.41 0.452 0.440096 0.4761 0.2103 0.3256 0.6445 0.4448 0.48 0.19 0.37 0.6 0.446 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 0.248326 NA NA 0.478225 0.660039 NA 0.406 NA 3.599675 1300 16 4496973 4496973 T A exonic DNAJA3 NA synonymous SNV DNAJA3:NM_001135110:exon8:c.T1083A:p.G361G,DNAJA3:NM_005147:exon8:c.T1083A:p.G361G exonic ENSG00000103423 NA synonymous SNV ENSG00000103423:ENST00000431375:exon6:c.T624A:p.G208G,ENSG00000103423:ENST00000262375:exon8:c.T1083A:p.G361G,ENSG00000103423:ENST00000355296:exon8:c.T1083A:p.G361G NA NA 16p13.3 NA NA NA NA rs2304633 0.69 0.69 0.697 0.627796 0.6859 0.6964 0.6052 0.6498 0.4836 0.69 0.74 0.65 0.64 0.6717 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742193 NA NA 0.709535 0.668184 NA 0.659 NA 3.5995316 1300 1 24387822 24387822 T A intronic MYOM3 NA NA NA ncRNA_intronic ENSG00000225315 NA NA NA NA NA 1p36.11 NA NA NA NA rs7553075 0.34 0.34 0.388 0.385583 0.2286 0.4058 0.17 0.5424 0.4673 0.23 0.41 0.19 0.53 0.2885 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.029245 NA NA 0.217018 0.451738 NA 0.413 NA 3.5992153 1300 3 196674973 196674973 T C exonic PIGZ NA synonymous SNV PIGZ:NM_025163:exon3:c.A795G:p.A265A exonic ENSG00000119227 NA synonymous SNV ENSG00000119227:ENST00000412723:exon3:c.A795G:p.A265A NA NA 3q29 NA NA NA NA rs573708 0.71 0.71 0.598 0.817492 0.7694 0.8899 0.8256 0.9402 0.6207 0.63 0.76 0.7 0.76 0.7716 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 -1.332666 NA NA 0.526977 0.799818 NA 0.029 NA 3.5986896 1300 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 1300 9 131380225 131380225 A C intronic SPTAN1 NA NA NA intronic ENSG00000197694 NA NA NA NA NA 9q34.11 NA NA NA NA rs7864187 0.29 0.29 0.299 0.309305 0.1173 0.4315 0.1988 0.4697 0.2423 0.12 0.46 0.17 0.46 0.1866 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.770714 NA NA 0.097558 0.431457 NA 0.275 NA 3.598542 1300 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 1300 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 1300 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 1300 7 116140275 116140275 T C UTR5 CAV2 NM_001206748:c.-138T>C NA NA intronic ENSG00000105971 NA NA NA NA NA 7q31.2 NA Name=Pol2 Name=120 NA rs11767363 0.87 0.87 0.859 0.874601 0.8618 0.9345 0.8963 0.829 0.8722 0.86 0.93 0.86 0.8 0.8586 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 1.238638 1.238638 NA 0.848721 0.846119 NA 0.812 NA 3.5975457 1300 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 1300 1 171077198 171077198 G A intronic FMO3 NA NA NA intronic ENSG00000007933 NA NA NA NA NA 1q24.3 NA Name=CTCF NA NA rs1920149 0.52 0.52 0.499 0.538538 0.4304 0.3849 0.5648 0.7405 0.5164 0.45 0.42 0.5 0.73 0.5049 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 -0.822966 NA NA 0.467907 0.699728 ID=COSN163334;OCCURENCE=1(breast) 0.565 NA 3.596793 1300 7 81346685 81346685 T C intronic HGF NA NA NA intronic ENSG00000019991 NA NA NA NA NA 7q21.11 NA NA Name=7 NA rs1800793 0.8 0.8 0.793 0.798323 0.8012 0.8839 0.8429 0.6657 0.8548 0.79 0.91 0.82 0.65 0.8053 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 -0.792615 NA NA 0.797558 0.666137 NA 0.775 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036551.1;CLNDSDB=.;CLNDSDBID=. 3.595942 1300 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 1300 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 1300 12 96617304 96617304 C T intronic ELK3 NA NA NA ncRNA_intronic ENSG00000258177 NA NA NA NA NA 12q23.1 NA NA NA NA rs2302902 0.34 0.34 0.344 0.320288 0.2346 0.5982 0.3372 0.2186 0.2474 0.24 0.58 0.32 0.22 0.2645 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278278 NA NA 0.238605 0.218339 NA 0.348 NA 3.5956283 1300 7 158531692 158531692 C T intronic ESYT2 NA NA NA intronic ENSG00000117868 NA NA NA NA NA 7q36.3 NA NA NA NA rs7804970 0.32 0.32 0.319 NA NA NA NA NA NA 0.17 0.56 0.17 0.38 0.2317 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.70054 NA NA 0.172791 0.341807 NA 0.181 NA 3.595509 1300 19 1990825 1990825 G A intronic BTBD2 NA NA NA intronic ENSG00000133243 NA NA NA NA NA 19p13.3 NA NA NA NA rs8102506 0.23 0.23 0.266 0.240415 0.1034 0.1716 0.1268 0.5325 0.138 0.11 0.19 0.13 0.55 0.2005 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.362671 NA NA 0.100678 0.480055 ID=COSM148453;OCCURENCE=1(stomach) 0.232 NA 3.595422 1300 16 68387373 68387373 C T intronic PRMT7 NA NA NA exonic ENSG00000132600 NA nonsynonymous SNV ENSG00000132600:ENST00000568975:exon14:c.C1651T:p.R551W NA NA 16q22.1 NA NA NA NA rs1562479 0.59 0.59 0.56 0.555911 0.496 0.7698 0.6095 0.4448 0.5092 0.5 0.79 0.59 0.48 0.5444 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 3.803557 3.803557 NA 0.530937 0.470187 NA 0.457 NA 3.5953297 1301 16 7726757 7726757 A G intronic RBFOX1 NA NA NA intronic ENSG00000078328 NA NA NA NA NA 16p13.3 NA NA NA NA rs2302213 0.1 0.1 0.093 0.100839 0.1382 0.0853 0.1398 0.0227 0.1564 0.14 0.1 0.12 0.02 0.1277 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.201705 NA NA 0.139186 0.042103 NA 0.065 NA 3.594914 1301 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 1301 2 160032843 160032843 A T intronic TANC1 NA NA NA intronic ENSG00000115183 NA NA NA NA NA 2q24.2 NA NA NA NA rs72951482 0.09 0.09 0.089 0.103634 0.1481 0.129 0.0706 0.0151 0.1748 0.15 0.1 0.09 0.01 0.1308 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.447497 2.447497 NA 0.126945 0.034955 NA 0.123 NA 3.594155 1301 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 1301 6 107096853 107096853 A C intronic QRSL1 NA NA NA intronic ENSG00000130348 NA NA NA NA NA 6q21 NA NA Name=4 NA rs9486434 0.35 0.35 0.31 0.333666 0.4632 0.1607 0.4006 0.3109 0.362 0.48 0.13 0.42 0.33 0.4452 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.578682 1.578682 NA 0.497558 0.362687 ID=COSN167859;OCCURENCE=1(large_intestine) 0.442 NA 3.594042 1301 3 15115270 15115270 G T UTR3 ZFYVE20 NM_022340:c.*19C>A NA NA UTR3 ENSG00000131381 ENST00000253699:c.*19C>A,ENST00000476527:c.*19C>A NA NA NA NA 3p25.1 NA NA NA NA rs3831 0.18 0.18 0.174 0.161741 0.2624 0.12 0.1787 0.1044 0.1667 0.26 0.1 0.2 0.12 0.2066 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162229 NA NA 0.270349 0.110531 NA 0.167 NA 3.5939844 1301 9 32492352 32492352 T C intronic DDX58 NA NA NA intronic ENSG00000107201 NA NA NA NA NA 9p21.1 NA NA NA NA rs17289927 0.09 0.09 0.084 0.0760783 0.1402 0.0129 0.1153 0.0643 0.0634 0.14 0.02 0.15 0.07 0.1177 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.568713 NA NA 0.14814 0.074217 NA 0.152 NA 3.59396 1301 9 32466462 32466462 G T intronic DDX58 NA NA NA intronic ENSG00000107201 NA NA NA NA NA 9p21.1 NA NA NA NA rs45460592 0.08 0.08 0.069 0.0577077 0.1352 0.0129 0.1009 0.0061 0.0634 0.14 0.02 0.13 0.01 0.13 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.395465 2.395465 NA 0.140996 0.026603 NA 0.101 NA 3.593804 1301 17 7794202 7794202 C G intronic CHD3 NA NA NA intronic ENSG00000170004 NA NA NA NA NA 17p13.1 NA NA NA NA rs12450454 0.68 0.68 0.67 0.720248 0.4066 0.9732 0.6902 0.8215 0.6667 0.4 0.98 0.62 0.8 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 -1.097802 NA NA NA NA NA 0.565 NA 3.5934 1301 22 25151890 25151890 C A intronic PIWIL3 NA NA NA intronic ENSG00000184571 NA NA NA NA NA 22q11.23 NA NA NA NA rs5760623 NA NA NA NA NA NA NA NA NA NA NA NA NA 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 -1.54916 NA NA NA NA NA NA NA 3.593 1301 8 142458053 142458053 A G exonic MROH5 NA unknown UNKNOWN exonic ENSG00000226807 NA unknown UNKNOWN NA NA 8q24.3 NA NA NA NA rs6578185 0.35 0.35 0.324 0.346446 0.4742 0.2996 0.2997 0.2421 0.4376 0.48 0.29 0.33 0.24 0.45 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178873 NA NA 0.482965 0.252006 ID=COSM1489061,COSM454109;OCCURENCE=1(breast) 0.413 NA 3.592835 1301 3 122001099 122001099 T C intronic CASR NA NA NA intronic ENSG00000036828 NA NA NA NA NA 3q21.1 NA NA NA NA rs2270916 0.18 0.18 0.164 0.143171 0.1402 0.3948 0.085 0.0454 0.0603 0.14 0.41 0.08 0.05 0.13 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.541391 NA NA 0.137326 0.064911 NA 0.13 NA 3.592474 1301 19 10468668 10468668 C G intronic TYK2 NA NA NA intronic ENSG00000105397 NA NA NA NA NA 19p13.2 NA NA NA NA rs12720299 0.09 0.09 0.089 0.0964457 0.1441 0.0377 0.0692 0.0817 0.1472 0.13 0.03 0.09 0.09 0.122 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.778275 NA NA 0.141545 0.087154 NA 0.058 NA 3.592355 1301 7 32209376 32209376 T C intronic PDE1C NA NA NA intronic ENSG00000154678 NA NA NA NA NA 7p14.3 NA NA NA NA rs2072312 0.15 0.15 0.129 0.136581 0.1233 0.2391 0.0908 0.0401 0.2076 0.13 0.27 0.13 0.08 0.1502 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.451505 NA NA 0.134355 0.057648 NA 0.094 NA 3.592145 1301 3 121265522 121265522 A C upstream POLQ NA NA NA upstream ENSG00000051341 NA NA NA NA NA 3q13.33 NA Name=CTCF Name=4 NA rs11714774 0.71 0.71 0.718 0.744409 0.67 0.876 0.6945 0.6278 0.8783 0.66 0.89 0.69 0.61 0.721 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 0.005174 NA NA 0.683576 0.643265 NA 0.674 NA 3.5920906 1301 1 31206637 31206637 C T UTR3 LAPTM5 NM_006762:c.*38G>A NA NA UTR3 ENSG00000162511 ENST00000294507:c.*38G>A NA NA NA NA 1p35.2 NA NA NA NA rs3795438 0.13 0.13 0.116 0.106629 0.2724 0.0754 0.1037 0.0083 0.1033 0.26 0.06 0.12 0.02 0.222 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.960396 1.960396 NA 0.247263 0.051685 NA 0.094 NA 3.5916704 1301 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 1301 10 5149703 5149703 G A UTR3 AKR1C3 NM_001253908:c.*8G>A,NM_003739:c.*8G>A NA NA UTR3 ENSG00000196139 ENST00000605149:c.*8G>A,ENST00000439082:c.*8G>A,ENST00000380554:c.*8G>A NA NA NA NA 10p15.1 NA Name=Pol2 NA NA rs3209896 0.49 0.49 0.494 0.457867 0.6262 0.2163 0.4121 0.6248 0.3405 0.61 0.21 0.47 0.66 0.5224 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 -0.48646 NA NA 0.59314 0.64049 NA 0.428 NA 3.5915934 1301 2 68794528 68794528 G T intronic APLF NA NA NA intronic ENSG00000169621 NA NA NA NA NA 2p13.3 NA NA NA NA rs6751531 0.2 0.2 0.22 0.229832 0.1223 0.0367 0.1182 0.5991 0.1196 0.12 0.04 0.12 0.59 0.156 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.288336 NA NA 0.130263 0.529572 NA 0.225 NA 3.591437 1301 2 160116281 160116281 A G intronic WDSUB1 NA NA NA intronic ENSG00000196151 NA NA NA NA NA 2q24.2 NA NA Name=11 NA rs4665052 0.25 0.25 0.233 0.192492 0.503 0.0476 0.2867 0.0242 0.183 0.5 0.05 0.32 0.04 0.389 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.605963 1.605963 NA 0.516604 0.104716 NA 0.29 NA 3.591396 1301 14 77713036 77713036 C G intronic TMEM63C NA NA NA intronic ENSG00000165548 NA NA NA NA NA 14q24.3 NA NA NA NA rs2287383 0.15 0.15 0.146 0.163339 0.1352 0.1022 0.072 0.2859 0.1544 0.15 0.08 0.07 0.28 0.1489 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605493 NA NA 0.12476 0.268131 NA 0.297 NA 3.59114 1301 5 13721378 13721378 A G intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA NA NA NA rs17203442 0.08 0.08 0.062 0.0567093 0.165 0.006 0.0937 0.0182 0.0235 0.16 0.01 0.12 0.03 0.1057 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.494561 1.494561 NA 0.138256 0.030186 NA 0.065 NA 3.591044 1301 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 1301 17 74077497 74077497 G C UTR3 EXOC7 NM_001145299:c.*2232C>G,NM_001013839:c.*2232C>G,NM_001145298:c.*2232C>G,NM_001145297:c.*2232C>G,NM_015219:c.*2232C>G NA NA UTR3 ENSG00000182473 ENST00000607838:c.*2232C>G,ENST00000332065:c.*2232C>G,ENST00000589210:c.*2232C>G NA NA NA NA 17q25.1 NA NA Name=15 NA rs8836 0.42 0.42 0.403 0.433107 0.6083 0.5159 0.4179 0.0431 0.7055 0.61 0.47 0.42 0.06 0.5418 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.092658 NA NA 0.592791 0.135724 NA 0.203 NA 3.5904424 1301 15 100331819 100331819 A G ncRNA_exonic DNM1P46 NA NA NA ncRNA_exonic ENSG00000182397,ENSG00000259655 NA NA NA Score=391;Name=lod=52 NA 15q26.3 NA NA NA NA rs2958994 0.7 0.7 0.663 0.704872 0.6759 0.7183 0.6239 0.7648 0.6973 0.67 0.71 0.63 0.78 0.6913 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 -0.526267 NA NA 0.709191 0.740297 NA 0.804 NA 3.5902756 1301 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 1301 2 136552188 136552188 G A intronic LCT NA NA NA UTR3 ENSG00000115850 ENST00000452974:c.*215C>T NA NA NA NA 2q21.3 NA NA NA NA rs3213890 0.21 0.21 0.219 0.219449 0.2127 0.1935 0.2089 0.2398 0.2331 0.21 0.18 0.23 0.25 0.1906 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.034933 NA NA 0.173488 0.199501 NA 0.196 NA 3.5898787 1301 1 12157288 12157288 T C intronic TNFRSF8 NA NA NA intronic ENSG00000120949 NA NA NA NA NA 1p36.22 NA NA NA NA rs11569835 0.08 0.08 0.076 0.0760783 0.1471 0.0486 0.0778 0.0333 0.0879 0.14 0.04 0.07 0.03 0.1143 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.572858 NA NA 0.14907 0.058103 NA 0.174 NA 3.58953 1301 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 1301 19 33096718 33096718 T C intronic ANKRD27 NA NA NA intronic ENSG00000105186 NA NA NA NA NA 19q13.11 NA NA NA NA rs7248845 0.23 0.23 0.209 0.240415 0.1153 0.3393 0.1455 0.3638 0.1677 0.1 0.32 0.15 0.37 0.1715 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.441086 NA NA 0.124302 0.321834 NA 0.232 NA 3.588898 1301 12 55688267 55688267 G A exonic OR6C6 NA synonymous SNV OR6C6:NM_001005493:exon1:c.C750T:p.Y250Y exonic ENSG00000188324 NA synonymous SNV ENSG00000188324:ENST00000358433:exon1:c.C750T:p.Y250Y NA NA 12q13.2 NA NA NA NA rs7308594 0.82 0.82 0.813 0.814696 0.664 0.9206 0.83 0.9448 0.6738 0.66 0.92 0.81 0.94 0.7315 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 -0.298564 NA NA 0.682368 0.893781 NA 0.812 NA 3.5887986 1301 14 51062357 51062357 G A intronic ATL1 NA NA NA intronic ENSG00000198513 NA NA NA NA NA 14q22.1 NA NA NA NA rs3759588 0.17 0.17 0.166 0.149361 0.1322 0.0645 0.1196 0.3056 0.0644 0.13 0.08 0.15 0.33 0.1331 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.821426 NA NA 0.146163 0.275533 NA 0.254 NA 3.588537 1301 14 94245452 94245452 A G intronic PRIMA1 NA NA NA intronic ENSG00000175785 NA NA NA NA NA 14q32.12 NA NA NA NA rs34914817 0.26 0.26 0.262 0.25619 0.4115 0.0516 0.2954 0.2436 0.2965 0.41 0.06 0.33 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 -0.865733 NA NA NA NA NA 0.261 NA 3.5885 1301 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 1301 1 12251808 12251808 T G ncRNA_exonic MIR4632 NA NA NA ncRNA_exonic ENSG00000263676 NA NA NA NA NA 1p36.22 NA NA NA NA rs653667 0.31 0.31 0.286 0.303714 0.3499 0.3581 0.2089 0.2247 0.3742 0.36 0.35 0.25 0.25 0.3616 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.122917 NA NA 0.367209 0.248071 NA 0.348 NA 3.5879576 1301 1 86529390 86529390 G A intronic COL24A1 NA NA NA intronic ENSG00000171502 NA NA NA NA NA 1p22.3 NA NA NA NA rs12742014 0.1 0.1 0.08 0.0884585 0.162 NA 0.1081 0.1316 0.0317 0.15 NA 0.12 0.13 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 0.885879 NA NA 0.145757 0.134026 NA 0.065 NA 3.587743 1301 13 103346659 103346659 G A intronic METTL21C NA NA NA intronic ENSG00000139780 NA NA NA NA NA 13q33.1 NA NA NA NA rs7981120 0.52 0.52 0.524 0.525958 0.4125 0.7946 0.4784 0.4191 0.544 0.43 0.78 0.42 0.42 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 0.15342 NA NA NA NA NA 0.558 NA 3.5875 1301 9 139358059 139358059 G A intronic SEC16A NA NA NA intronic ENSG00000148396 NA NA NA NA NA 9q34.3 NA NA NA NA rs11145753 0.14 0.14 0.108 0.138978 0.1233 0.1567 0.2997 0.0386 0.1585 0.13 0.14 0.25 0.07 0.1497 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331151 NA NA 0.139524 0.055698 NA 0.094 NA 3.587476 1301 12 113538415 113538415 A T intronic RASAL1 NA NA NA intronic ENSG00000111344 NA NA NA NA NA 12q24.13 NA NA NA NA rs73207006 0.07 0.07 0.078 0.0621006 0.1521 NA 0.0865 0.031 0.0583 0.16 NA 0.08 0.03 0.1119 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065967 NA NA 0.14907 0.052882 NA 0.051 NA 3.58693 1301 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 1301 20 4164283 4164283 A G exonic SMOX NA synonymous SNV SMOX:NM_001270691:exon6:c.A1512G:p.T504T,SMOX:NM_175839:exon6:c.A1512G:p.T504T,SMOX:NM_175840:exon7:c.A1353G:p.T451T,SMOX:NM_175842:exon7:c.A1353G:p.T451T exonic ENSG00000088826 NA synonymous SNV ENSG00000088826:ENST00000457205:exon4:c.A1083G:p.T361T,ENSG00000088826:ENST00000305958:exon6:c.A1512G:p.T504T,ENSG00000088826:ENST00000379460:exon6:c.A1512G:p.T504T,ENSG00000088826:ENST00000278795:exon7:c.A1353G:p.T451T,ENSG00000088826:ENST00000339123:exon7:c.A1353G:p.T451T NA NA 20p13 NA NA NA NA rs1741327 0.72 0.72 0.701 0.694489 0.6889 0.7192 0.7219 0.798 0.5153 0.7 0.66 0.74 0.79 0.7011 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 -0.999928 NA NA 0.690088 0.794412 NA 0.609 NA 3.5865786 1301 5 68464234 68464234 A G intronic CCNB1 NA NA NA intronic ENSG00000134057 NA NA NA NA NA 5q13.2 NA NA NA NA rs163443 0.45 0.45 0.452 0.482428 0.4135 0.4613 0.4611 0.4909 0.5787 0.41 0.5 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 0.13621 NA NA NA NA NA 0.457 NA 3.5865 1301 11 5510928 5510928 G A UTR3 OR52D1 NM_001005163:c.*35G>A NA NA ncRNA_UTR3 ENSG00000181609 NA NA NA NA NA 11p15.4 NA Name=c-Fos Name=12 NA rs392296 0.94 0.94 0.934 0.948482 0.9742 0.9246 0.9712 0.9107 0.9816 0.97 0.91 0.97 0.88 0.9687 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 0.017 NA NA 0.97065 0.938412 NA 0.913 NA 3.58645 1301 15 68492028 68492028 G A intronic CALML4 NA NA NA UTR5 ENSG00000129007 ENST00000354678:c.-74C>T NA NA NA NA 15q23 NA NA Name=5 NA rs11071986 0.4 0.4 0.402 0.384984 0.5646 0.1567 0.3919 0.4357 0.362 0.56 0.14 0.42 0.45 0.4615 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.28015 NA NA 0.554418 0.471036 NA 0.37 NA 3.5861487 1301 7 20698077 20698077 C G intronic ABCB5 NA NA NA intronic ENSG00000004846 NA NA NA NA NA 7p21.1 NA NA NA NA rs7807360 0.13 0.13 0.121 0.138179 0.2087 0.0377 0.1081 0.1596 0.1616 0.21 0.03 0.11 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 0.756204 NA NA 0.205173 0.173516 NA 0.116 NA 3.586127 1301 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 1301 12 113539829 113539829 C T intronic RASAL1 NA NA NA intronic ENSG00000111344 NA NA NA NA NA 12q24.13 NA NA NA NA rs73207007 0.08 0.08 0.078 0.061901 0.1521 NA 0.0865 0.031 0.0573 0.16 NA 0.08 0.03 0.1136 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.290667 2.290667 NA 0.148605 0.053109 NA 0.051 NA 3.585695 1302 2 42990010 42990010 C A UTR3 OXER1 NM_148962:c.*38G>T NA NA UTR3 ENSG00000162881 ENST00000378661:c.*38G>T NA NA NA NA 2p21 NA NA NA NA rs12617777 0.39 0.39 0.369 0.400958 0.2416 0.5893 0.2608 0.4455 0.41 0.23 0.62 0.25 0.48 0.296 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.537938 NA NA 0.21093 0.423479 NA 0.391 NA 3.5848034 1302 22 50894849 50894849 G A intronic SBF1 NA NA NA intronic ENSG00000100241 NA NA NA NA NA 22q13.33 NA NA NA NA rs2076713 0.17 0.17 0.147 0.138778 0.1461 0.2728 0.1945 0.0741 0.0409 0.15 0.29 0.17 0.07 0.1465 0.29 NA NA 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 0.123274 0.078756 NA 0.087 NA 3.584126 1302 8 21927460 21927460 C G intronic EPB49 NA NA NA intronic ENSG00000158856 NA NA NA NA NA 8p21.3 NA Name=USF-1 Name=4 NA rs7386762 0.74 0.74 0.718 0.710064 0.8151 0.9762 0.7608 0.32 0.819 0.81 0.98 0.76 0.34 0.7792 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 1.506342 1.506342 NA 0.821744 0.383341 NA 0.601 NA 3.583956 1302 1 55517883 55517883 C G intronic PCSK9 NA NA NA intronic ENSG00000169174 NA NA NA NA NA 1p32.3 NA NA NA NA rs624612 0.44 0.44 0.373 0.421326 0.4165 0.751 0.6282 0.0469 0.4458 0.41 0.72 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 -0.635905 NA NA NA NA NA 0.283 NA 3.5835 1302 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 1302 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 1302 19 7692083 7692083 G A intronic XAB2 NA NA NA intronic ENSG00000076924 NA NA NA NA NA 19p13.2 NA NA NA NA rs4134825 0.1 0.1 0.118 0.0754792 0.166 0.002 0.0965 0.087 0.0276 0.16 NA 0.09 0.11 0.1053 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.604042 NA NA 0.145383 0.083976 NA 0.188 NA 3.583317 1302 3 129151927 129151927 G A intronic MBD4 NA NA NA intronic ENSG00000129071 NA NA NA NA NA 3q21.3 NA NA NA NA rs140697 0.31 0.31 0.313 0.361621 0.1143 0.5099 0.2378 0.5484 0.2986 0.1 0.48 0.25 0.49 0.1959 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183558 NA NA 0.106512 0.465048 NA 0.464 NA 3.583288 1302 7 5643479 5643479 C T intronic FSCN1 NA NA NA intronic ENSG00000075618 NA NA NA NA NA 7p22.1 NA NA NA NA rs1725183 0.18 0.18 0.191 0.213858 0.1292 0.1716 0.2075 0.3154 0.2117 0.13 0.15 0.2 0.28 0.1589 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.264206 2.264206 NA 0.128953 0.27054 NA 0.152 NA 3.582947 1302 12 49167202 49167202 A C intronic ADCY6 NA NA NA intronic ENSG00000174233 NA NA NA NA NA 12q13.12 NA NA NA NA rs3729980 0.2 0.2 0.229 0.208067 0.1272 0.0248 0.1153 0.5461 0.089 0.13 0.01 0.12 0.56 0.1458 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.003438 2.003438 NA 0.144302 0.484567 NA 0.377 NA 3.582698 1302 2 201485830 201485830 G A intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA NA NA NA rs6761375 0.15 0.15 0.134 0.182109 0.1252 0.0903 0.2161 0.1823 0.3108 0.13 0.09 0.23 0.19 0.1536 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.944646 NA NA 0.138721 0.173854 NA 0.087 NA 3.582479 1302 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 1302 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 1302 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 1302 16 354493 354493 C T intronic AXIN1 NA NA NA intronic ENSG00000103126 NA NA NA NA NA 16p13.3 NA NA NA NA rs62032882 0.09 0.09 0.088 0.113019 0.1471 0.0942 0.0893 0.0136 0.2485 0.14 0.1 0.1 0.01 0.1368 0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687076 NA NA 0.135212 0.030752 NA 0.109 NA 3.580888 1302 18 264012 264012 G A intronic THOC1 NA NA NA intronic ENSG00000079134 NA NA NA NA NA 18p11.32 NA NA NA NA rs652504 0.15 0.15 0.171 NA NA NA NA NA NA 0.21 0.0017 0.15 0.23 0.1978 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.552719 NA NA 0.221639 0.23247 NA 0.087 NA 3.580561 1302 20 48260203 48260203 G A intronic B4GALT5 NA NA NA intronic ENSG00000158470 NA NA NA NA NA 20q13.13 NA NA NA NA rs6122802 0.13 0.13 0.1 0.107428 0.1521 0.2083 0.0951 0.0174 0.0879 0.16 0.21 0.1 0.02 0.1319 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.220229 NA NA 0.135465 0.041307 NA 0.058 NA 3.580535 1302 16 136888 136888 T C intronic NPRL3 NA NA NA intronic ENSG00000103148 NA NA NA NA NA 16p13.3 Score=806;Name=V$ER_Q6 NA Name=4 NA rs743725 0.73 0.73 0.692 0.726238 0.7932 0.7093 0.8098 0.5809 0.8119 0.8 0.69 0.82 0.58 0.8027 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 0.011375 NA NA 0.823649 0.621011 NA 0.674 NA 3.580451 1302 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 1302 X 118699320 118699320 A G UTR5 CXorf56 NM_001170570:c.-2T>C,NM_022101:c.-2T>C,NM_001170569:c.-4995T>C NA NA UTR5 ENSG00000018610 ENST00000536133:c.-2T>C,ENST00000371594:c.-2T>C,ENST00000320339:c.-4995T>C,ENST00000486230:c.-2T>C,ENST00000476164:c.-2T>C NA NA NA NA Xq24 NA Name=TBP,JunD,YY1_(C-20),Max,SRF,c-Myc,Sin3Ak-20,RFX5_(N-494),c-Jun,TAF1,Pol2-4H8,GABP,HEY1,ELF1_(SC-631),ATF3,USF-1,USF2,Pol2,USF1_(SC-8983),E2F6_(H-50) NA NA rs5910616 0.94 0.94 0.93164 NA NA NA NA NA NA 0.86 1 0.96 0.99 0.8955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.125363 NA NA 0.857907 0.976793 NA 0.725 NA 3.5799264 1302 7 94897801 94897801 T C intronic PPP1R9A NA NA NA intronic ENSG00000158528 NA NA NA NA NA 7q21.3 NA NA NA NA rs854522 0.35 0.35 0.333 0.323083 0.4205 0.3849 0.3487 0.2042 0.3016 0.41 0.37 0.4 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 0.479536 NA NA NA NA NA 0.384 NA 3.5795 1302 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 1302 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 1302 11 134244631 134244631 T C intronic GLB1L2 NA NA NA intronic ENSG00000149328 NA NA NA NA NA 11q25 NA NA NA NA rs876542 0.08 0.08 0.063 0.0583067 0.171 NA 0.0965 0.0136 0.0358 0.19 NA 0.09 0.01 0.1063 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 0.045158 NA NA 0.143356 0.033621 NA 0.116 NA 3.579344 1302 12 29598373 29598373 T C ncRNA_intronic LOC101055625 NA NA NA intronic ENSG00000187950,ENSG00000257599 NA NA NA NA NA 12p11.22 NA NA NA NA rs7133304 0.26 0.26 0.227 0.222045 0.2505 0.2351 0.438 0.1339 0.1452 0.24 0.24 0.46 0.15 0.2603 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.447004 NA NA 0.24336 0.140177 NA 0.275 NA 3.5791733 1302 6 46832813 46832813 G A exonic GPR116 NA synonymous SNV GPR116:NM_001098518:exon14:c.C1956T:p.V652V,GPR116:NM_015234:exon14:c.C1956T:p.V652V exonic ENSG00000069122 NA synonymous SNV ENSG00000069122:ENST00000545669:exon4:c.C243T:p.V81V,ENSG00000069122:ENST00000456426:exon12:c.C1530T:p.V510V,ENSG00000069122:ENST00000265417:exon14:c.C1956T:p.V652V,ENSG00000069122:ENST00000283296:exon14:c.C1956T:p.V652V,ENSG00000069122:ENST00000362015:exon14:c.C1956T:p.V652V NA NA 6p12.3 NA NA NA NA rs614826 0.54 0.54 0.474 0.5 0.7237 0.628 0.6182 0.118 0.5706 0.72 0.6 0.61 0.14 0.64 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.467974 NA NA 0.724419 0.205402 NA 0.493 NA 3.5785476 1302 1 43904316 43904316 A G intronic SZT2 NA NA NA intronic ENSG00000198198 NA NA NA NA NA 1p34.2 NA NA NA NA rs2842184 0.3 0.3 0.267 0.242812 0.4215 0.1062 0.3905 0.2375 0.1022 0.42 0.11 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 0.981773 NA NA NA NA NA 0.384 NA 3.5785 1302 1 94544276 94544276 G A intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA NA NA rs4147830 0.52 0.52 0.521 0.514776 0.4801 0.5992 0.4914 0.5 0.5 0.47 0.62 0.49 0.52 0.4814 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.967082 2.967082 NA 0.46 0.476169 NA 0.478 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000085380.2;CLNDSDB=.;CLNDSDBID=. 3.5785 1302 6 42025058 42025058 G A intronic TAF8 NA NA NA intronic ENSG00000137413 NA NA NA NA NA 6p21.1 NA NA NA NA rs6917299 0.39 0.39 0.383 0.367812 0.4215 0.3284 0.3804 0.4425 0.2434 0.42 0.35 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 1.185091 NA NA NA NA NA 0.312 NA 3.5785 1302 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 1302 2 101096903 101096903 T C intronic NMS NA NA NA intronic ENSG00000204640 NA NA NA NA NA 2q11.2 NA NA NA NA rs13393776 0.27 0.27 0.285 0.278754 0.2097 0.3492 0.2118 0.2995 0.2965 0.22 0.34 0.23 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 -0.371323 NA NA 0.212131 0.289017 NA 0.203 NA 3.578169 1302 19 2111661 2111661 G A intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs55759847 0.07 0.07 0.063 0.0770767 0.1153 NA 0.0677 0.0749 0.1268 0.11 NA 0.09 0.08 0.161 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.150064 2.150064 NA 0.145883 0.076832 NA 0.065 NA 3.577817 1302 7 144703163 144703163 T G intergenic TPK1,CNTNAP2 dist=170017;dist=1110290 NA NA ncRNA_exonic ENSG00000236343 NA NA NA Score=741;Name=lod=1364 NA 7q35 NA NA NA NA rs35986454 0.48 0.48 0.46 0.46865 0.4682 0.6161 0.513 0.3434 0.455 0.47 0.61 0.48 0.36 0.4849 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.327997 NA NA 0.469358 0.363208 NA 0.522 NA 3.577542 1302 1 111778187 111778187 A G intronic CHI3L2 NA NA NA intronic ENSG00000064886 NA NA NA NA NA 1p13.3 NA NA NA NA rs2251715 0.37 0.37 0.321 0.341454 0.4225 0.5585 0.2997 0.0772 0.4213 0.44 0.53 0.35 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 1.681066 1.681066 NA NA NA NA 0.304 NA 3.5775 1302 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 1302 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 1302 11 32622213 32622213 G C intronic EIF3M NA NA NA intronic ENSG00000149100 NA NA NA NA NA 11p13 NA NA NA NA rs11031888 0.08 0.08 0.073 0.0654952 0.161 0.006 0.1081 0.0091 0.0746 0.16 0.01 0.13 0.02 0.1129 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.798975 2.798975 NA 0.149686 0.028383 NA 0.051 NA 3.576414 1302 12 56956213 56956213 T C exonic RBMS2 NA synonymous SNV RBMS2:NM_002898:exon2:c.T79C:p.L27L exonic ENSG00000076067 NA nonsynonymous SNV ENSG00000076067:ENST00000551369:exon3:c.T158C:p.I53T NA NA 12q13.3 NA NA NA NA rs3759091 0.72 0.72 0.686 0.685703 0.8072 0.8393 0.7565 0.3495 0.8067 0.82 0.85 0.77 0.38 0.7914 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 0.863984 NA NA 0.825 0.430095 NA 0.565 NA 3.5764 1302 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 1302 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 1302 6 149285719 149285719 A G ncRNA_exonic LOC100128176 NA NA NA ncRNA_exonic ENSG00000227660 NA NA NA NA NA 6q25.1 NA NA NA NA rs3734377 0.34 0.34 0.313 0.333466 0.3598 0.3363 0.268 0.3427 0.3374 0.35 0.35 0.3 0.33 0.3563 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.648982 NA NA 0.374419 0.347027 NA 0.304 NA 3.5761476 1302 8 124749610 124749610 C T UTR5 ANXA13 NM_004306:c.-36G>A,NM_001003954:c.-36G>A NA NA UTR5 ENSG00000104537 ENST00000262219:c.-36G>A,ENST00000419625:c.-36G>A NA NA Score=243;Name=lod=13 NA 8q24.13 NA NA Name=29 NA rs6470179 0.93 0.93 0.925 0.944489 0.9006 0.996 0.9395 0.9402 0.9458 0.9 1 0.93 0.92 0.9338 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.881726 NA NA 0.922791 0.935089 NA 0.935 NA 3.5761424 1302 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 1302 5 108521893 108521893 T C intronic FER NA NA NA intronic ENSG00000151422 NA NA NA NA NA 5q21.3 NA NA NA NA rs78007324 0.16 0.16 0.146 0.163938 0.1431 0.1567 0.0908 0.2103 0.182 0.14 0.18 0.09 0.22 0.1418 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.064883 NA NA 0.139186 0.203906 NA 0.203 NA 3.575914 1302 12 113559447 113559447 A G intronic RASAL1 NA NA NA intronic ENSG00000111344 NA NA NA NA NA 12q24.13 NA NA NA NA rs73207027 0.09 0.09 0.098 0.086262 0.1541 NA 0.0965 0.1082 0.0685 0.16 NA 0.1 0.09 0.1206 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167913 NA NA 0.149651 0.119837 NA 0.08 NA 3.575649 1303 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 1303 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 1303 5 178579119 178579119 C G intronic ADAMTS2 NA NA NA intronic ENSG00000087116 NA NA NA NA NA 5q35.3 NA NA NA NA rs2303637 0.22 0.22 0.241 0.244209 0.1203 0.1419 0.1657 0.5106 0.1728 0.12 0.15 0.16 0.51 0.1698 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.155292 NA NA 0.135349 0.456196 NA 0.377 NA 3.574551 1303 13 25363477 25363477 A T intronic RNF17 NA NA NA intronic ENSG00000132972 NA NA NA NA NA 13q12.12 NA NA NA NA rs11616245 0.14 0.14 0.126 0.151158 0.161 0.001 0.121 0.32 0.089 0.16 NA 0.11 0.29 0.1393 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.746758 NA NA 0.125728 0.248638 NA 0.101 NA 3.573972 1303 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 1303 6 55113411 55113411 C A intronic HCRTR2 NA NA NA intronic ENSG00000137252 NA NA NA NA NA 6p12.1 Score=824;Name=V$FREAC3_01 Name=CTCF NA NA rs3122169 0.74 0.74 0.746 0.763778 0.831 0.5139 0.5692 0.9622 0.8221 0.82 0.51 0.63 0.95 0.783 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.155055 NA NA 0.812442 0.938039 NA 0.826 NA 3.573558 1303 12 31285214 31285214 A G intergenic DDX11,FAM60A dist=27489;dist=148306 NA NA ncRNA_exonic ENSG00000177359 NA NA NA NA NA 12p11.21 NA NA NA NA rs2287450 0.21 0.21 0.209 0.216653 0.1014 0.371 0.17 0.2262 0.1963 0.1 0.38 0.14 0.23 0.2185 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605771 NA 0.01 0.106722 0.214482 NA 0.109 NA 3.573378 1303 1 92711067 92711067 A T intronic C1orf146 NA NA NA intronic ENSG00000203910 NA NA NA NA NA 1p22.1 Score=981;Name=V$TBP_01 NA NA NA rs3131827 0.6 0.6 0.615 0.620807 0.4553 0.9732 0.4885 0.4766 0.7168 0.46 0.97 0.48 0.47 0.5246 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 1.62993 1.62993 NA 0.446823 0.464578 NA 0.478 NA 3.573277 1303 16 1842209 1842209 A G exonic IGFALS NA synonymous SNV IGFALS:NM_001146006:exon2:c.T324C:p.D108D,IGFALS:NM_004970:exon2:c.T210C:p.D70D exonic ENSG00000099769 NA nonsynonymous SNV ENSG00000099769:ENST00000568221:exon2:c.T242C:p.M81T NA NA 16p13.3 NA NA NA NA rs3751893 0.78 0.78 0.79 0.784145 0.8032 0.7272 0.7781 0.8192 0.7802 0.8 0.72 0.82 0.82 0.8018 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 -1.522646 NA NA 0.821894 0.815861 ID=COSM434736;OCCURENCE=1(breast) 0.703 NA 3.573106 1303 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 1303 19 40318086 40318086 A G intronic DYRK1B NA NA NA intronic ENSG00000105204 NA NA NA Score=259;Name=lod=15 NA 19q13.2 NA NA NA NA rs12977762 0.46 0.46 0.379 0.503994 0.5636 0.2222 0.4827 0.7549 0.409 0.52 0.17 0.44 0.73 0.5037 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 0.642522 NA NA 0.360581 0.646391 NA 0.246 NA 3.572119 1303 11 373427 373427 C T intronic B4GALNT4 NA NA NA intronic ENSG00000182272 NA NA NA NA NA 11p15.5 NA NA NA NA rs7395781 0.4 0.4 0.252 0.40016 0.2972 0.3988 0.3228 0.5424 0.3701 0.31 0.45 0.35 0.53 0.1308 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.310902 NA NA NA NA NA 0.348 NA 3.572 1303 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 1303 22 46722560 46722560 C T intronic GTSE1 NA NA NA intronic ENSG00000075218 NA NA NA NA NA 22q13.31 NA NA NA NA rs6008700 0.2 0.2 0.241 0.217252 0.1471 0.001 0.1196 0.6059 0.0562 0.14 NA 0.14 0.56 0.1476 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.526181 NA NA 0.133488 0.534044 NA 0.21 NA 3.571812 1303 9 139905819 139905819 C T intronic ABCA2 NA NA NA intronic ENSG00000107331 NA NA NA NA NA 9q34.3 NA NA NA NA rs2292920 0.11 0.11 0.087 0.109625 0.162 0.0387 0.1254 0.1036 0.1258 0.15 0.03 0.13 0.1 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 -0.10046 NA NA 0.137333 0.102911 NA 0.167 NA 3.571667 1303 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 1303 11 86098732 86098732 G A intronic CCDC81 NA NA NA intronic ENSG00000149201 NA NA NA NA NA 11q14.2 NA NA NA NA rs11234627 0.15 0.15 0.146 0.149361 0.1332 0.2371 0.1052 0.0908 0.1861 0.13 0.23 0.13 0.1 0.1502 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066417 NA NA 0.145266 0.101545 ID=COSN164013;OCCURENCE=1(breast) 0.087 NA 3.571334 1303 2 242287487 242287487 T G intronic SEPT2 NA NA NA intronic ENSG00000168385 NA NA NA NA NA 2q37.3 NA NA NA NA rs12619647 0.4 0.4 0.309 0.397764 0.3231 0.6657 0.5259 0.1619 0.4264 0.32 0.65 0.48 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 -0.296242 NA NA 0.105594 0.027457 NA 0.42 NA 3.571306 1303 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 1303 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 1303 10 3208557 3208557 A G exonic PITRM1 NA synonymous SNV PITRM1:NM_001242309:exon3:c.T186C:p.T62T,PITRM1:NM_001242307:exon4:c.T282C:p.T94T,PITRM1:NM_014889:exon4:c.T282C:p.T94T exonic ENSG00000107959 NA synonymous SNV ENSG00000107959:ENST00000451104:exon3:c.T186C:p.T62T,ENSG00000107959:ENST00000224949:exon4:c.T282C:p.T94T,ENSG00000107959:ENST00000380989:exon4:c.T282C:p.T94T NA NA 10p15.2 NA NA NA NA rs12359035 NA NA 0.598 0.639577 0.7018 0.6042 0.5807 0.5915 0.7188 NA NA NA NA 0.6713 0.72 NA NA 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 0.723193 0.654336 NA 0.674 NA 3.5703736 1303 10 127734716 127734716 A G intronic ADAM12 NA NA NA intronic ENSG00000148848 NA NA NA NA NA 10q26.2 NA NA NA NA rs11244787 0.12 0.12 0.124 0.123003 0.161 0.0278 0.1513 0.1248 0.1595 0.15 0.02 0.14 0.16 0.1341 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.850938 NA NA 0.134535 0.127326 NA 0.051 NA 3.570365 1303 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 1303 9 139273402 139273402 C T exonic SNAPC4 NA synonymous SNV SNAPC4:NM_003086:exon21:c.G2877A:p.A959A exonic ENSG00000165684 NA synonymous SNV ENSG00000165684:ENST00000298532:exon21:c.G2877A:p.A959A NA NA 9q34.3 NA NA NA NA rs3812567 0.79 0.79 0.805 0.780751 0.6909 0.8452 0.6455 0.9856 0.6258 0.67 0.85 0.69 0.98 0.719 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 0.034436 NA NA 0.68648 0.941378 NA 0.529 NA 3.5702866 1303 19 19014248 19014248 C T intronic COPE NA NA NA intronic ENSG00000105669 NA NA NA NA NA 19p13.11 NA NA NA NA rs55988241 0.22 0.22 0.231 0.249401 0.1402 0.0754 0.1455 0.553 0.2045 0.14 0.1 0.17 0.52 0.1623 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635679 NA NA 0.127326 0.473672 NA 0.254 NA 3.570174 1303 14 52494072 52494072 G A intronic NID2 NA NA NA intronic ENSG00000087303 NA NA NA NA NA 14q22.1 NA NA NA NA rs2273429 0.28 0.28 0.246 0.289936 0.1074 0.5516 0.3343 0.2284 0.2597 0.11 0.55 0.31 0.21 0.2049 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.358744 2.358744 NA 0.117907 0.201089 NA 0.261 NA 3.569793 1303 12 133225446 133225446 G T intronic POLE NA NA NA intronic ENSG00000177084 NA NA NA NA NA 12q24.33 NA NA NA NA rs4883538 0.57 0.57 0.559 0.588858 0.4304 0.6736 0.5288 0.7005 0.5562 0.43 0.69 0.52 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 -1.197607 NA NA NA NA NA 0.543 NA 3.5696 1303 2 86385668 86385668 T C intronic IMMT NA NA NA intronic ENSG00000132305 NA NA NA NA NA 2p11.2 Score=817;Name=V$CDP_02 NA NA NA rs1057893 0.36 0.36 0.341 0.375399 0.4781 0.1488 0.4049 0.441 0.3937 0.47 0.16 0.43 0.38 0.4539 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.267137 NA NA 0.498423 0.408661 NA 0.413 NA 3.569577 1303 11 124135481 124135481 C T exonic OR8G5 NA synonymous SNV OR8G5:NM_001005198:exon1:c.C759T:p.Y253Y ncRNA_exonic ENSG00000255298 NA NA NA NA NA 11q24.2 NA NA NA NA rs2466701 0.5 0.5 0.463 0.438498 0.5527 0.5833 0.5591 0.292 0.2843 0.54 0.59 0.54 0.3 0.4975 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.347662 NA NA 0.54728 0.335028 NA 0.304 NA 3.5691866 1303 20 61460338 61460338 C T intronic COL9A3 NA NA NA intronic ENSG00000092758 NA NA NA NA NA 20q13.33 Score=784;Name=V$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 1303 6 160494521 160494521 C T intronic IGF2R NA NA NA intronic ENSG00000197081 NA NA NA NA NA 6q25.3 NA NA NA NA rs2282140 0.17 0.17 0.169 0.172724 0.1581 0.2589 0.1225 0.1407 0.1779 0.16 0.25 0.12 0.14 0.1425 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.959299 NA NA 0.130581 0.14049 NA 0.101 NA 3.568819 1303 15 91034559 91034559 C G intronic IQGAP1 NA NA NA intronic ENSG00000140575 NA NA NA NA NA 15q26.1 NA NA NA NA rs6496679 0.18 0.18 0.184 0.170727 0.1491 0.0446 0.1369 0.3949 0.044 0.16 0.06 0.13 0.38 0.1407 0.38 NA NA 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 0.14181 0.369882 ID=COSM147983;OCCURENCE=1(stomach) 0.261 NA 3.56839 1303 9 101785633 101785633 T C intronic COL15A1 NA NA NA intronic ENSG00000204291 NA NA NA NA NA 9q22.33 NA NA NA NA rs7851787 0.22 0.22 0.212 0.214058 0.1402 0.3155 0.1628 0.2398 0.1871 0.14 0.34 0.14 0.26 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 0.733443 NA NA 0.126512 0.219473 NA 0.217 NA 3.568088 1303 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 1303 7 48237824 48237824 C T intronic ABCA13 NA NA NA intronic ENSG00000179869 NA NA NA NA NA 7p12.3 NA NA NA NA rs17060 0.23 0.23 0.207 0.220248 0.1123 0.2877 0.219 0.2738 0.1902 0.11 0.3 0.22 0.32 0.1832 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001504 NA NA 0.136776 0.240448 ID=COSM150287;OCCURENCE=1(stomach) 0.196 NA 3.567724 1303 11 116701535 116701535 T C exonic APOC3 NA synonymous SNV APOC3:NM_000040:exon3:c.T102C:p.G34G exonic ENSG00000110245 NA synonymous SNV ENSG00000110245:ENST00000227667:exon3:c.T102C:p.G34G,ENSG00000110245:ENST00000375345:exon3:c.T156C:p.G52G,ENSG00000110245:ENST00000433777:exon3:c.T102C:p.G34G NA NA 11q23.3 NA NA NA NA rs4520 0.62 0.62 0.641 0.597045 0.7048 0.3958 0.5706 0.7201 0.546 0.71 0.4 0.64 0.73 0.6542 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082665 NA NA 0.74034 0.741254 NA 0.746 NA 3.5673266 1303 3 122277160 122277160 G T intronic PARP9 NA NA NA intronic ENSG00000138496 NA NA NA NA NA 3q21.1 NA NA NA NA rs9289198 0.16 0.16 0.162 0.139976 0.1451 0.3274 0.0793 0.0582 0.0951 0.14 0.33 0.1 0.05 0.1402 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.109673 NA NA 0.147674 0.066046 NA 0.138 NA 3.567026 1303 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 1303 4 77039193 77039193 A T intronic NUP54 NA NA NA intronic ENSG00000138750 NA NA NA NA NA 4q21.1 NA NA NA NA rs6840007 0.17 0.17 0.166 0.154952 0.1312 0.3512 0.1282 0.0567 0.1288 0.13 0.35 0.13 0.06 0.1517 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.411202 1.411202 0.17 0.150814 0.069905 ID=COSN167249;OCCURENCE=2(large_intestine) 0.123 NA 3.566286 1303 X 2326782 2326782 G C intronic DHRSX NA NA NA intronic ENSG00000169084 NA NA NA NA NA Xp22.33 NA NA NA NA rs5939175 0.28 0.28 0.28696 NA NA NA NA NA NA 0.19 0.2 0.19 0.57 0.2378 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.00777 NA NA 0.196695 0.522944 NA 0.268 NA 3.565505 1303 19 10108861 10108861 A G intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs3745595 0.2 0.2 0.182 0.209265 0.1372 0.1815 0.2406 0.3434 0.1084 0.13 0.15 0.24 0.34 0.1671 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.851791 NA NA 0.130233 0.310259 NA 0.217 NA 3.565467 1303 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 1304 9 119202879 119202879 C A intronic ASTN2 NA NA NA intronic ENSG00000148219 NA NA NA NA NA 9q33.1 NA NA NA NA rs74790727 0.09 0.09 0.084 0.0742812 0.1551 NA 0.1124 0.0567 0.0644 0.16 NA 0.13 0.05 0.1234 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.5791 NA NA 0.156744 0.073082 NA 0.101 NA 3.564756 1304 20 62904542 62904542 A G intronic PCMTD2 NA NA NA intronic ENSG00000203880 NA NA NA NA NA 20q13.33 NA NA Name=8 NA rs6062361 0.43 0.43 0.473 0.500799 0.4791 0.2113 0.3674 0.7632 0.5613 0.47 0.16 0.36 0.74 0.4675 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11356 NA NA 0.488721 0.698366 NA 0.623 NA 3.564679 1304 8 12960281 12960281 T C intronic DLC1 NA NA NA intronic ENSG00000164741 NA NA NA NA NA 8p22 NA Name=CEBPB NA NA rs2280335 0.33 0.33 0.292 0.304712 0.502 0.2718 0.3271 0.0454 0.4703 0.49 0.29 0.4 0.06 0.4335 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.53323 NA NA 0.499884 0.111439 NA 0.319 NA 3.564616 1304 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 1304 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 1304 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 1304 16 84014482 84014482 C G intronic NECAB2 NA NA NA intronic ENSG00000103154 NA NA NA NA NA 16q23.3 NA NA NA NA rs16962369 0.28 0.28 0.309 0.323682 0.1123 0.1151 0.2378 0.7867 0.1912 0.1 0.13 0.22 0.77 0.2197 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 -0.215583 NA NA 0.10407 0.682273 NA 0.406 NA 3.56393 1304 7 87229501 87229501 T C UTR5 ABCB1 NM_000927:c.-1A>G NA NA UTR5 ENSG00000085563 ENST00000265724:c.-1A>G,ENST00000416177:c.-1A>G NA NA NA NA 7q21.12 NA Name=ZNF263,TBP Name=20 NA rs2214102 0.96 0.96 0.972 0.97524 0.9066 1 0.9798 0.997 0.9877 0.9 1 0.97 1 0.9445 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606422 NA NA 0.918605 0.983659 NA 0.913 NA 3.5636284 1304 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 1304 19 35610245 35610245 A G intronic FXYD3 NA NA NA intronic ENSG00000089356 NA NA NA NA NA 19q13.12 NA Name=GATA-1 NA NA rs2278994 0.65 0.65 0.619 NA NA NA NA NA NA 0.72 0.67 0.67 0.5 0.7149 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.025905 NA NA 0.721512 0.515887 NA 0.659 NA 3.563588 1304 3 38354839 38354839 G T intronic SLC22A14 NA NA NA intronic ENSG00000144671 NA NA NA NA NA 3p22.2 NA NA NA NA rs72867262 0.13 0.13 0.093 0.120407 0.1402 0.1171 0.1354 0.1263 0.0849 0.14 0.11 0.14 0.13 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 -0.14167 NA NA 0.160233 0.135043 NA 0.152 NA 3.563567 1304 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 1304 7 107564366 107564366 T G UTR3 LAMB1 NM_002291:c.*30A>C NA NA UTR3 ENSG00000091136 ENST00000393561:c.*30A>C,ENST00000222399:c.*30A>C NA NA Score=304;Name=lod=23 NA 7q31.1 NA NA NA NA rs7561 0.72 0.72 0.739 0.71266 0.5795 0.8611 0.6398 0.8389 0.5777 0.58 0.86 0.61 0.84 0.6142 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 -0.024432 NA NA 0.576163 0.777803 NA 0.768 NA 3.5634704 1304 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 1304 1 94480037 94480037 C T intronic ABCA4 NA NA NA intronic ENSG00000198691 NA NA NA NA NA 1p22.1 NA NA NA NA rs2275033 0.32 0.32 0.338 0.327077 0.4374 0.1399 0.2738 0.4039 0.3405 0.42 0.16 0.3 0.38 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 0.04164 NA NA NA NA NA 0.42 NA 3.5626 1304 13 28647573 28647573 C T intronic FLT3 NA NA NA intronic ENSG00000122025 NA NA NA NA NA 13q12.2 NA NA NA NA rs9581971 0.17 0.17 0.165 0.176318 0.1938 0.1806 0.1138 0.1475 0.2372 0.19 0.19 0.11 0.15 0.2436 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 -0.403708 NA NA NA NA NA 0.181 NA 3.5626 1304 6 151859314 151859314 A G exonic CCDC170 NA synonymous SNV CCDC170:NM_025059:exon3:c.A321G:p.E107E exonic ENSG00000120262 NA synonymous SNV ENSG00000120262:ENST00000239374:exon3:c.A321G:p.E107E,ENSG00000120262:ENST00000367290:exon3:c.A321G:p.E107E NA NA 6q25.1 NA NA NA NA rs4870034 0.62 0.62 0.583 0.60024 0.7237 0.7143 0.7493 0.2806 0.682 0.73 0.72 0.72 0.27 0.6865 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 -1.285453 NA NA 0.694228 0.352626 NA 0.688 NA 3.5622386 1304 7 76870998 76870998 T C intronic CCDC146 NA NA NA intronic ENSG00000135205 NA NA NA NA NA 7q11.23 NA NA NA NA rs17230010 0.08 0.08 0.074 0.0708866 0.162 0.0506 0.0706 0.0068 0.0849 0.15 0.06 0.08 0.01 0.1169 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457311 NA NA 0.15907 0.031775 ID=COSM150317;OCCURENCE=1(stomach) 0.21 NA 3.56203 1304 11 65389890 65389890 G C intronic PCNXL3 NA NA NA intronic ENSG00000197136 NA NA NA NA NA 11q13.1 NA NA NA NA rs11227241 0.33 0.33 0.308 0.378794 0.4384 0.3264 0.3012 0.2057 0.6605 0.43 0.3 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 0.285387 NA NA NA NA NA 0.377 NA 3.5616 1304 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 1304 7 20668277 20668277 C A intronic ABCB5 NA NA NA intronic ENSG00000004846 NA NA NA NA NA 7p21.1 NA NA NA NA rs78414512 0.07 0.07 0.057 0.047524 0.161 NA 0.0591 0.0023 0.0327 0.16 NA 0.06 0.01 0.1286 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.958977 NA NA 0.148939 0.027423 NA 0.029 NA 3.561461 1304 15 40062825 40062825 C A intronic FSIP1 NA NA NA ncRNA_intronic ENSG00000259580 NA NA NA NA NA 15q14 NA NA NA NA rs1565560 NA NA NA 0.246206 0.3797 0.2173 0.4481 0.0613 0.2454 NA NA NA NA 0.3923 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387189 NA NA NA NA NA 0.145 NA 3.5613333 1304 14 88448525 88448525 A G intronic GALC NA NA NA intronic ENSG00000054983 NA NA NA NA NA 14q31.3 NA NA NA NA rs45568734 0.09 0.09 0.061 0.0794728 0.159 0.005 0.1657 0.0174 0.0971 0.17 0.0035 0.15 0.02 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 -0.201621 NA NA 0.15026 0.044085 NA 0.065 NA 3.56124 1304 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 1304 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 1304 4 154641489 154641489 T C intronic RNF175 NA NA NA ncRNA_exonic ENSG00000249309 NA NA NA NA NA 4q31.3 NA NA Name=12 NA rs1439166 0.45 0.45 0.462 0.402756 0.6352 0.3085 0.389 0.4002 0.274 0.64 0.26 0.45 0.39 0.5212 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.424418 NA NA 0.61665 0.453744 NA 0.493 NA 3.5602833 1304 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 1304 14 88450928 88450928 C T intronic GALC NA NA NA intronic ENSG00000054983 NA NA NA NA NA 14q31.3 NA NA NA NA rs77468347 0.09 0.09 0.073 0.0794728 0.159 0.005 0.1657 0.0174 0.0971 0.17 0.0035 0.15 0.02 0.1274 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.433853 NA NA 0.153406 0.045119 NA 0.065 NA 3.560194 1304 19 19033387 19033387 G A intronic DDX49 NA NA NA intronic ENSG00000105671,ENSG00000268193 NA NA NA NA NA 19p13.11 NA NA NA NA rs2106660 0.19 0.19 0.196 0.21845 0.1531 0.0278 0.1326 0.4766 0.1943 0.15 0.04 0.15 0.45 0.1536 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.245461 NA NA 0.133605 0.402406 NA 0.275 NA 3.559695 1304 22 17589152 17589152 T G intronic IL17RA NA NA NA intronic ENSG00000177663 NA NA NA NA NA 22q11.1 NA NA NA NA rs41372049 0.09 0.09 0.069 0.08127 0.161 0.003 0.1369 0.0416 0.0941 0.18 0.0017 0.13 0.03 0.1328 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486619 NA NA 0.14686 0.063323 NA 0.022 NA 3.55934 1304 9 140242726 140242726 C T intronic EXD3 NA NA NA intronic ENSG00000187609 NA NA NA NA NA 9q34.3 NA NA NA NA rs58941960 0.13 0.13 0.07 0.11262 0.1541 0.0427 0.3256 0.0507 0.0746 0.16 0.05 0.31 0.05 0.1564 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.31379 NA NA 0.131059 0.057276 NA 0.014 NA 3.558441 1304 11 68157299 68157299 G A intronic LRP5 NA NA NA intronic ENSG00000162337 NA NA NA NA NA 11q13.2 NA NA NA NA rs4988320 0.11 0.11 0.095 0.0916534 0.1372 0.0149 0.2997 0.0454 0.0389 0.13 0.02 0.27 0.06 0.1399 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.061351 NA NA 0.164998 0.065682 NA 0.094 NA 3.557902 1304 14 55847466 55847466 A G intronic ATG14 NA NA NA intronic ENSG00000126775 NA NA NA NA NA 14q22.3 NA NA NA NA rs946059 0.53 0.53 0.55 0.560903 0.4423 0.3681 0.3919 0.9455 0.4816 0.44 0.37 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 0.342597 NA NA NA NA NA 0.58 NA 3.5577 1304 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 1304 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 1304 5 140567608 140567608 C T exonic PCDHB9 NA unknown UNKNOWN ncRNA_exonic ENSG00000177839 NA NA NA NA NA 5q31.3 NA NA NA NA rs11167743 0.38 0.38 0.372 0.371006 0.4483 0.3393 0.3617 0.3086 0.4151 0.45 0.34 0.42 0.31 0.4033 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.828826 1.828826 NA 0.424884 0.330912 NA 0.362 NA 3.5568493 1304 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 1304 1 19202917 19202917 T C exonic ALDH4A1 NA synonymous SNV ALDH4A1:NM_001161504:exon12:c.A1050G:p.S350S,ALDH4A1:NM_003748:exon12:c.A1230G:p.S410S,ALDH4A1:NM_170726:exon12:c.A1230G:p.S410S exonic ENSG00000159423 NA synonymous SNV ENSG00000159423:ENST00000290597:exon12:c.A1230G:p.S410S,ENSG00000159423:ENST00000375341:exon12:c.A1230G:p.S410S,ENSG00000159423:ENST00000538309:exon12:c.A1050G:p.S350S NA NA 1p36.13 NA NA NA NA rs7550938 0.66 0.66 0.59 0.660942 0.7137 0.7063 0.768 0.4728 0.7382 0.7 0.71 0.73 0.48 0.7024 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 1.574985 1.574985 NA 0.693837 0.484793 ID=COSM1337325,COSM1337326;OCCURENCE=1(large_intestine) 0.652 NA 3.5567296 1304 5 1225688 1225688 T C exonic SLC6A18 NA synonymous SNV SLC6A18:NM_182632:exon1:c.T96C:p.T32T exonic ENSG00000164363 NA synonymous SNV ENSG00000164363:ENST00000296821:exon1:c.T96C:p.T32T,ENSG00000164363:ENST00000324642:exon1:c.T96C:p.T32T NA NA 5p15.33 NA NA NA NA rs7728814 0.59 0.59 0.235 0.683506 0.7873 0.5575 0.7435 0.6762 0.6738 0.63 0.5 0.66 0.58 0.7428 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 -0.953618 NA NA 0.58 0.595098 ID=COSM149783;OCCURENCE=1(stomach) NA NA 3.5565666 1304 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 1304 1 209779805 209779805 G A intronic CAMK1G NA NA NA intronic ENSG00000008118 NA NA NA NA NA 1q32.2 NA NA NA NA rs880783 0.12 0.12 0.113 0.125998 0.159 0.0387 0.1427 0.1263 0.1697 0.16 0.04 0.17 0.13 0.1334 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.430362 NA NA 0.151628 0.136859 NA 0.188 NA 3.555972 1304 6 117842669 117842669 T A intronic DCBLD1 NA NA NA intronic ENSG00000164465 NA NA NA NA NA 6q22.1 NA NA NA NA rs72963484 0.09 0.09 0.073 0.077476 0.163 0.0337 0.0764 0.0469 0.0767 0.16 0.02 0.1 0.05 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 1.530359 1.530359 NA 0.163061 0.082615 NA 0.167 NA 3.555839 1304 1 77558057 77558057 G C UTR3 PIGK NM_005482:c.*2C>G NA NA UTR3 ENSG00000142892 ENST00000445065:c.*2C>G,ENST00000370812:c.*2C>G,ENST00000370813:c.*2C>G,ENST00000487906:c.*679C>G NA NA NA NA 1p31.1 NA NA NA NA rs1048575 0.35 0.35 0.352 0.357628 0.2455 0.4325 0.389 0.4228 0.2853 0.23 0.42 0.36 0.45 0.2936 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.282629 NA NA 0.238837 0.413981 ID=COSN163136;OCCURENCE=1(breast) 0.362 NA 3.5553964 1304 16 2011126 2011126 A G intronic NDUFB10 NA NA NA intronic ENSG00000140990 NA NA NA NA NA 16p13.3 NA Name=ZNF263,TAF7_(SQ-8),Pol2(phosphoS2),Pol2,HEY1,Pol2-4H8 Name=135 NA rs758335 0.86 0.86 0.866 0.867612 0.8111 0.8909 0.7709 0.9932 0.8006 0.81 0.87 0.77 0.99 0.8263 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 -0.363716 NA NA 0.807209 0.959982 NA 0.812 NA 3.555391 1304 12 113386950 113386950 T C exonic OAS3 NA synonymous SNV OAS3:NM_006187:exon6:c.T1314C:p.I438I exonic ENSG00000111331 NA synonymous SNV ENSG00000111331:ENST00000228928:exon6:c.T1314C:p.I438I NA NA 12q24.13 NA NA NA NA rs2285932 0.83 0.83 0.797 0.842452 0.672 0.9117 0.8012 0.9902 0.7761 0.68 0.9 0.78 0.99 0.758 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 0.366936 NA NA 0.681614 0.941316 NA 0.797 NA 3.5550526 1305 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 1305 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 1305 16 66947383 66947383 C G intronic CDH16 NA NA NA intronic ENSG00000166589 NA NA NA NA NA 16q22.1 NA NA NA NA rs3848284 0.32 0.32 0.326 0.363419 0.1342 0.249 0.183 0.8177 0.2311 0.13 0.22 0.18 0.82 0.2023 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 -4.612251 NA NA 0.108953 0.685 NA 0.428 NA 3.554547 1305 1 63912546 63912546 G T intronic ITGB3BP NA NA NA intronic ENSG00000142856 NA NA NA NA NA 1p31.3 NA NA NA NA rs12760364 0.18 0.18 0.138 0.182109 0.1372 0.1657 0.1585 0.2564 0.1616 0.13 0.17 0.17 0.26 0.1851 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.624465 NA NA 0.123313 0.153654 NA 0.087 NA 3.554387 1305 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=ZNF263,Pol2 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 1305 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 1305 20 4778754 4778754 A G intronic RASSF2 NA NA NA intronic ENSG00000101265 NA NA NA NA NA 20p13 NA NA NA NA rs2281639 0.17 0.17 0.155 0.155551 0.167 0.1954 0.1542 0.1952 0.0501 0.16 0.2 0.12 0.19 0.1442 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.187964 NA NA 0.134767 0.185429 NA 0.225 NA 3.554033 1305 8 28635303 28635303 G C intronic INTS9 NA NA NA intronic ENSG00000104299 NA NA NA NA NA 8p21.1 NA NA NA NA rs11785319 0.1 0.1 0.097 0.0974441 0.1799 NA 0.1009 0.1407 0.0521 0.18 NA 0.1 0.11 0.1207 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.154864 NA NA 0.145465 0.132773 NA 0.087 NA 3.553935 1305 6 51618170 51618170 T G intronic PKHD1 NA NA NA intronic ENSG00000170927 NA NA NA NA NA 6p12.3 NA NA NA NA rs1326605 0.84 0.84 NA 0.859425 0.7048 0.9772 0.8271 0.9085 0.8538 0.72 0.98 0.78 0.9 0.7416 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 -3.04612 NA NA NA NA NA 0.732 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082588.1;CLNDSDB=.;CLNDSDBID=. 3.5536 1305 X 11200260 11200260 G C intronic ARHGAP6 NA NA NA intronic ENSG00000047648 NA NA NA NA NA Xp22.2 NA NA NA NA rs7060317 0.19 0.19 0.19952 NA NA NA NA NA NA 0.22 0.03 0.17 0.35 0.2101 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.981741 2.981741 NA 0.236326 0.356193 NA 0.203 NA 3.553574 1305 18 32650341 32650341 A G intronic MAPRE2 NA NA NA intronic ENSG00000166974 NA NA NA NA NA 18q12.1 NA NA NA NA rs3744923 0.33 0.33 0.328 0.297524 0.4473 0.2907 0.3631 0.1225 0.3405 0.45 0.32 0.36 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 1.902539 1.902539 NA NA NA NA 0.297 NA 3.5527 1305 9 71686181 71686181 T C intronic FXN NA NA NA intronic ENSG00000165060 NA NA NA NA NA 9q21.11 NA NA Name=15 NA rs9314854 0.57 0.57 0.544 0.602436 0.4871 0.6429 0.5821 0.708 0.5511 0.48 0.63 0.55 0.66 0.5049 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 0.178734 NA NA 0.455801 0.673516 NA 0.58 NA 3.552199 1305 16 24741686 24741686 T C intronic TNRC6A NA NA NA intronic ENSG00000090905 NA NA NA NA NA 16p12.1 NA NA Name=72 NA rs7202252 0.79 0.79 0.77 0.773363 0.7336 0.872 0.8156 0.7239 0.7495 0.75 0.9 0.79 0.74 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 1.583151 1.583151 NA 0.714331 0.726156 NA 0.688 NA 3.552069 1305 1 62740449 62740449 T C exonic KANK4 NA synonymous SNV KANK4:NM_181712:exon3:c.A327G:p.S109S exonic ENSG00000132854 NA synonymous SNV ENSG00000132854:ENST00000371153:exon3:c.A327G:p.S109S NA NA 1p31.3 NA NA NA NA rs2666507 0.77 0.77 0.733 0.78095 0.7038 0.8522 0.7795 0.798 0.7648 0.71 0.81 0.77 0.82 0.7374 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 0.033235 NA NA 0.673412 0.772955 NA 0.848 NA 3.5520546 1305 10 20357050 20357050 G T intronic PLXDC2 NA NA NA intronic ENSG00000120594 NA NA NA NA NA 10p12.31 NA NA NA NA rs7911756 0.34 0.34 0.355 0.333466 0.1292 0.6032 0.196 0.5061 0.1299 0.14 0.59 0.16 0.5 0.2 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177399 NA NA 0.118837 0.433046 NA 0.232 NA 3.551963 1305 3 141917810 141917810 T C intronic GK5 NA NA NA intronic ENSG00000175066 NA NA NA NA NA 3q23 NA NA NA NA rs74836705 0.12 0.12 0.105 0.104034 0.1223 0.0754 0.1729 0.0938 0.0798 0.12 0.07 0.18 0.11 0.1782 0.18 NA NA 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 0.148014 0.097465 NA 0.152 NA 3.551486 1305 1 24200983 24200983 C T UTR3 CNR2 NM_001841:c.*42G>A NA NA UTR3 ENSG00000188822 ENST00000374472:c.*42G>A,ENST00000536471:c.*42G>A NA NA NA NA 1p36.11 Score=843;Name=V$P300_01 NA NA NA rs2229583 0.64 0.64 0.683 0.661342 0.5885 0.502 0.6398 0.823 0.6973 0.59 0.55 0.65 0.84 0.6201 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 -0.02882 NA NA 0.573256 0.773203 NA 0.768 NA 3.5514774 1305 3 150285664 150285664 A G intronic EIF2A NA NA NA intronic ENSG00000120742,ENSG00000144895 NA NA NA NA NA 3q25.1 NA NA NA NA rs2293150 0.11 0.11 0.118 0.10643 0.1571 0.0208 0.134 0.1195 0.1053 0.14 0.02 0.16 0.12 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 2.034034 2.034034 NA 0.15721 0.119559 NA 0.058 NA 3.55109 1305 2 192820898 192820898 T G intronic TMEFF2 NA NA NA ncRNA_intronic ENSG00000233766 NA NA NA NA NA 2q32.3 NA NA NA NA rs7606017 0.82 0.82 0.821 0.827476 0.7823 0.9385 0.7738 0.7806 0.8609 0.78 0.95 0.77 0.76 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 -0.282089 NA NA NA NA NA 0.79 NA 3.5510333 1305 16 354287 354287 C T intronic AXIN1 NA NA NA intronic ENSG00000103126 NA NA NA NA NA 16p13.3 NA NA NA NA rs62032881 0.1 0.1 0.109 0.125799 0.1491 0.0942 0.0951 0.0575 0.2485 0.14 0.1 0.11 0.04 0.1426 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.869573 NA NA 0.157423 0.067137 NA 0.116 NA 3.550877 1305 8 107751849 107751849 G A intronic OXR1 NA NA NA intronic ENSG00000164830 NA NA NA NA NA 8q23.1 NA NA NA NA rs3016494 0.1 0.1 0.103 0.0886581 0.164 0.0427 0.0908 0.0703 0.0818 0.17 0.05 0.1 0.07 0.1315 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.822893 NA NA 0.154222 0.076941 NA 0.167 NA 3.550278 1305 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 1305 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 1305 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 1305 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 1305 12 58022074 58022074 G A intronic B4GALNT1 NA NA NA UTR3 ENSG00000135454 ENST00000549391:c.*372C>T NA NA NA NA 12q13.3 NA NA NA NA rs12322482 0.19 0.19 0.164 0.169529 0.2058 0.1657 0.2723 0.09 0.1708 0.21 0.19 0.25 0.11 0.2012 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.941496 NA NA 0.210581 0.104403 NA 0.145 NA 3.5490857 1305 16 75573884 75573884 T C UTR3 TMEM231 NM_001077418:c.*8A>G,NM_001077416:c.*8A>G NA NA UTR3 ENSG00000205084 ENST00000258173:c.*8A>G,ENST00000398114:c.*8A>G,ENST00000562410:c.*761A>G,ENST00000565067:c.*8A>G NA NA NA NA 16q23.1 NA NA NA NA rs2242407 0.24 0.24 0.198 0.241414 0.2773 0.244 0.1729 0.2595 0.226 0.28 0.2 0.2 0.26 0.2562 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.768713 NA NA 0.250907 0.234821 NA 0.174 NA 3.5489264 1305 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 1305 5 115323489 115323489 T C intronic AQPEP NA NA NA intronic ENSG00000172901 NA NA NA NA NA 5q23.1 NA NA NA NA rs10519436 0.21 0.21 0.186 0.227436 0.1223 0.4177 0.1729 0.1641 0.2638 0.13 0.4 0.18 0.16 0.1872 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.148301 NA NA 0.141977 0.140781 NA 0.109 NA 3.548523 1305 1 48701567 48701567 C T intronic SLC5A9 NA NA NA intronic ENSG00000117834 NA NA NA NA NA 1p33 NA NA NA NA rs6694372 0.09 0.09 0.087 0.0940495 0.1581 0.0109 0.0965 0.0416 0.183 0.16 0.01 0.11 0.06 0.1385 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.931715 NA NA 0.154884 0.054244 NA 0.072 NA 3.548516 1305 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 1305 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 1305 19 7687626 7687626 C G intronic XAB2 NA NA NA intronic ENSG00000076924 NA NA NA NA NA 19p13.2 NA NA NA NA rs4134851 0.14 0.14 0.146 0.122005 0.169 0.0337 0.2464 0.1558 0.0307 0.16 0.02 0.21 0.19 0.1362 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026157 NA NA 0.147093 0.147072 NA 0.21 NA 3.547707 1305 10 113917085 113917085 T A exonic GPAM NA synonymous SNV GPAM:NM_001244949:exon19:c.A2043T:p.P681P,GPAM:NM_020918:exon19:c.A2043T:p.P681P exonic ENSG00000119927 NA synonymous SNV ENSG00000119927:ENST00000348367:exon19:c.A2043T:p.P681P,ENSG00000119927:ENST00000369425:exon19:c.A2043T:p.P681P,ENSG00000119927:ENST00000423155:exon19:c.A2043T:p.P681P NA NA 10q25.2 NA NA NA NA rs2254537 0.71 0.71 0.712 0.757588 0.6879 0.7589 0.6499 0.7837 0.8691 0.67 0.73 0.66 0.78 0.7256 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 1.163892 NA NA 0.705465 0.751929 NA 0.667 NA 3.5477016 1305 3 122354052 122354052 A G intronic PARP15 NA NA NA intronic ENSG00000173200 NA NA NA NA NA 3q21.1 NA NA NA NA rs1106345 0.25 0.25 0.232 0.240216 0.1322 0.4911 0.2493 0.1619 0.1922 0.13 0.49 0.23 0.15 0.1874 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691796 NA NA 0.132907 0.166591 NA 0.159 NA 3.547493 1305 12 133198021 133198021 C T intronic P2RX2 NA NA NA intronic ENSG00000187848 NA NA NA NA NA 12q24.33 NA Name=Pol2 NA NA rs4883632 0.59 0.59 0.572 0.583466 0.4622 0.754 0.5187 0.6316 0.5133 0.46 0.75 0.54 0.61 0.5225 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 -1.938459 NA NA 0.468023 0.605538 NA 0.587 NA 3.547277 1305 19 6821625 6821625 C T intronic VAV1 NA NA NA intronic ENSG00000141968 NA NA NA NA NA 19p13.3 NA NA NA NA rs28617395 0.11 0.11 0.118 0.0928514 0.164 0.0417 0.0922 0.0893 0.0777 0.16 0.04 0.1 0.11 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 -0.78021 NA NA 0.162326 0.113028 NA 0.123 NA 3.546674 1305 13 113742595 113742595 C T intronic MCF2L NA NA NA intronic ENSG00000126217 NA NA NA NA NA 13q34 NA NA NA NA rs9324220 0.13 0.13 0.141 0.160343 0.1531 0.004 0.1182 0.2511 0.2362 0.13 0.01 0.13 0.27 0.1476 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.010367 NA NA 0.152907 0.213799 NA 0.174 NA 3.546393 1305 19 48571026 48571026 G A intronic PLA2G4C NA NA NA intronic ENSG00000105499 NA NA NA NA NA 19q13.33 NA NA NA NA rs2307278 0.2 0.2 0.097 0.0998403 0.1571 0.0208 0.1427 0.0938 0.1002 0.26 0.11 0.2 0.22 0.1398 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.562188 NA NA 0.156744 0.115978 NA 0.101 NA 3.546356 1305 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 1305 1 16525056 16525056 G T UTR3 ARHGEF19 NM_153213:c.*26C>A NA NA UTR3 ENSG00000142632 ENST00000421561:c.*26C>A,ENST00000270747:c.*26C>A NA NA NA NA 1p36.13 NA NA NA NA rs451260 0.21 0.21 0.175 0.256789 0.2624 0.1498 0.4035 0.1316 0.4264 0.27 0.13 0.34 0.13 0.2683 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.757011 NA NA 0.256395 0.149569 NA 0.232 NA 3.5462384 1305 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 1305 8 30999122 30999122 C T intronic WRN NA NA NA intronic ENSG00000165392 NA NA NA NA NA 8p12 NA NA NA NA rs3024239 0.36 0.36 0.354 0.375 0.502 0.3343 0.379 0.149 0.589 0.52 0.35 0.35 0.16 0.4704 0.52 NA NA 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 0.481628 0.201089 NA 0.333 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118872.2;CLNDSDB=.;CLNDSDBID=. 3.545972 1305 19 7691001 7691001 G C intronic XAB2 NA NA NA intronic ENSG00000076924 NA NA NA NA NA 19p13.2 NA NA NA NA rs4134838 0.14 0.14 0.137 0.119609 0.171 0.0337 0.245 0.146 0.0307 0.16 0.02 0.2 0.18 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 -0.112266 NA NA 0.146744 0.111439 NA 0.21 NA 3.545856 1305 7 6077269 6077269 G T intronic EIF2AK1 NA NA NA intronic ENSG00000086232 NA NA NA NA NA 7p22.1 NA NA NA NA rs2302333 0.37 0.37 0.377 0.325679 0.4543 0.3611 0.3977 0.1611 0.3282 0.46 0.4 0.4 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 3.875202 3.875202 NA NA NA NA 0.246 NA 3.5457 1305 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 1305 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 1305 9 327996 327996 T C intronic DOCK8 NA NA NA intronic ENSG00000107099 NA NA NA NA NA 9p24.3 NA NA NA NA rs2296827 0.12 0.12 0.107 0.0826677 0.1581 0.0843 0.1671 0.0159 0.0337 0.17 0.09 0.16 0.03 0.1351 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.439107 1.439107 NA 0.161628 0.038357 NA 0.116 NA 3.545172 1306 17 76395634 76395634 C T intronic PGS1 NA NA NA intronic ENSG00000087157 NA NA NA NA NA 17q25.3 NA NA NA NA rs2292641 0.16 0.16 0.159 0.145966 0.1501 0.2609 0.1787 0.0212 0.1687 0.15 0.27 0.18 0.02 0.1575 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.620011 NA NA 0.147496 0.044139 NA 0.145 NA 3.544904 1306 12 48134634 48134634 C T intronic RAPGEF3 NA NA NA ncRNA_exonic ENSG00000257433 NA NA NA NA NA 12q13.11 NA NA NA NA rs11168219 0.24 0.24 0.248 0.252196 0.2694 0.1776 0.2147 0.3116 0.2577 0.25 0.16 0.25 0.3 0.2537 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.117156 NA NA 0.265349 0.288016 NA 0.203 NA 3.5448843 1306 1 62738904 62738904 T C exonic KANK4 NA synonymous SNV KANK4:NM_181712:exon3:c.A1872G:p.P624P exonic ENSG00000132854 NA synonymous SNV ENSG00000132854:ENST00000371153:exon3:c.A1872G:p.P624P NA NA 1p31.3 NA NA NA NA rs7516290 0.78 0.78 0.763 0.800519 0.7018 0.8403 0.7911 0.8782 0.7628 0.71 0.81 0.78 0.88 0.747 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 0.539666 NA NA 0.673296 0.854318 NA 0.848 NA 3.5445706 1306 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 1306 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 1306 2 189964891 189964891 A G intronic COL5A2 NA NA NA intronic ENSG00000204262 NA NA NA NA NA 2q32.2 NA NA NA NA rs56380683 0.12 0.12 0.111 0.13099 0.166 0.1062 0.1268 0.0885 0.181 0.15 0.11 0.12 0.07 0.1421 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.220923 NA NA 0.147859 0.100545 NA 0.109 NA 3.544041 1306 1 62740446 62740446 T C exonic KANK4 NA synonymous SNV KANK4:NM_181712:exon3:c.A330G:p.P110P exonic ENSG00000132854 NA synonymous SNV ENSG00000132854:ENST00000371153:exon3:c.A330G:p.P110P NA NA 1p31.3 NA NA NA NA rs2666506 0.79 0.79 0.758 0.804513 0.7038 0.8522 0.7911 0.8812 0.7648 0.71 0.81 0.78 0.89 0.7448 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 0.016686 NA NA 0.674227 0.854545 NA 0.87 NA 3.5438396 1306 6 35765068 35765068 T C UTR5 CLPS NM_001252597:c.-441A>G,NM_001832:c.-3A>G,NM_001252598:c.-3A>G NA NA UTR5 ENSG00000137392 ENST00000259938:c.-3A>G NA NA NA NA 6p21.31 NA NA NA NA rs3748050 0.21 0.21 0.192 0.213858 0.2684 0.0794 0.2147 0.2632 0.229 0.27 0.06 0.24 0.27 0.2501 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67557 NA NA 0.271744 0.254653 NA 0.188 NA 3.5430894 1306 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 1306 4 77091006 77091006 A T intronic SCARB2 NA NA NA intronic ENSG00000138760 NA NA NA NA NA 4q21.1 NA NA NA NA rs35369082 0.25 0.25 0.257 0.253395 0.1262 0.3552 0.1614 0.3585 0.2025 0.13 0.35 0.15 0.36 0.1817 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.519197 3.519197 NA 0.149186 0.31616 NA 0.181 NA 3.542914 1306 14 36789795 36789795 G A UTR5 MBIP NM_001144891:c.-1C>T,NM_016586:c.-1C>T NA NA UTR5 ENSG00000151332 ENST00000416007:c.-1C>T,ENST00000318473:c.-1C>T,ENST00000359527:c.-1C>T,ENST00000604336:c.-1C>T,ENST00000603139:c.-1C>T NA NA Score=391;Name=lod=52 NA 14q13.3 NA Name=TBP,Egr-1,YY1,BRCA1_(C-1863),CEBPB,JunD,YY1_(C-20),TCF4,SRF,c-Myc,GATA3_(SC-268),RFX5_(N-494),c-Jun,TAF1,Pol2-4H8,HEY1,ELF1_(SC-631),ATF3,Pol2,FOSL2,CHD2_(N-1250),HDAC2_(SC-6296) NA NA rs11558802 0.82 0.82 0.769 0.786342 0.9364 0.9554 0.8905 0.3941 0.9141 0.94 0.95 0.86 0.46 0.9089 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 0.92933 NA NA 0.94513 0.490005 NA 0.746 NA 3.5429034 1306 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 1306 17 55058417 55058417 A G intronic SCPEP1 NA NA NA intronic ENSG00000121064 NA NA NA NA NA 17q22 NA NA NA NA rs3095500 0.17 0.17 0.193 0.179513 0.1521 0.2192 0.0994 0.2421 0.1391 0.15 0.2 0.12 0.21 0.1525 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.505361 NA NA 0.152558 0.234907 NA 0.159 NA 3.542842 1306 6 39847279 39847279 G A intronic DAAM2 NA NA NA intronic ENSG00000146122 NA NA NA NA NA 6p21.2 NA NA NA NA rs2504797 0.09 0.09 0.073 0.126398 0.1421 0.0347 0.1297 0.0121 0.3569 0.14 0.04 0.15 0.02 0.1622 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278933 NA NA 0.153395 0.036485 NA 0.13 NA 3.542305 1306 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 1306 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 1306 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 1306 17 40052842 40052842 G A intronic ACLY NA NA NA intronic ENSG00000131473 NA NA NA NA NA 17q21.2 NA NA NA NA rs67473931 0.15 0.15 0.142 0.153554 0.16 0.1687 0.0778 0.1626 0.1728 0.16 0.17 0.08 0.15 0.1499 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.757796 1.757796 NA 0.148837 0.154108 NA 0.188 NA 3.541263 1306 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 1306 16 2836027 2836027 T G intronic PRSS33 NA NA NA intronic ENSG00000103355 NA NA NA NA NA 16p13.3 NA Name=CTCF NA NA rs7195287 0.61 0.61 0.639 0.616214 0.7465 0.3968 0.6009 0.7239 0.5736 0.75 0.35 0.6 0.71 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 -0.378023 NA NA 0.713074 0.66474 NA 0.572 NA 3.540426 1306 2 189948696 189948696 G A intronic COL5A2 NA NA NA intronic ENSG00000204262 NA NA NA NA NA 2q32.2 NA NA NA NA rs56310996 0.13 0.13 0.128 0.140176 0.167 0.1062 0.1326 0.1203 0.18 0.15 0.11 0.13 0.11 0.1446 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.025578 NA NA 0.148605 0.136405 NA 0.123 NA 3.539795 1306 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 1306 11 2990985 2990985 G A intronic NAP1L4 NA NA NA intronic ENSG00000205531 NA NA NA NA NA 11p15.4 NA NA NA NA rs61871241 0.11 0.11 0.103 0.101438 0.166 0.0218 0.1282 0.1233 0.0685 0.17 0.01 0.14 0.12 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 -0.700063 NA NA 0.165207 0.102809 NA 0.101 NA 3.539193 1306 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 1306 12 3782779 3782779 A G intronic EFCAB4B NA NA NA intronic ENSG00000130038 NA NA NA NA NA 12p13.32 NA NA NA NA rs61907258 0.15 0.15 0.136 0.171326 0.1471 0.127 0.2363 0.1172 0.2689 0.14 0.15 0.24 0.12 0.1714 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.739466 NA NA 0.142558 0.126419 NA 0.188 NA 3.538942 1306 19 7688614 7688614 T C intronic XAB2 NA NA NA intronic ENSG00000076924 NA NA NA NA NA 19p13.2 NA NA NA NA rs2335521 0.14 0.14 0.14 0.123602 0.17 0.0407 0.2464 0.1558 0.0307 0.16 0.02 0.21 0.19 0.1437 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.555553 NA NA 0.147442 0.147072 NA 0.203 NA 3.538858 1306 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 1306 19 56307583 56307583 A G exonic NLRP11 NA synonymous SNV NLRP11:NM_145007:exon8:c.T2205C:p.C735C exonic ENSG00000179873 NA synonymous SNV ENSG00000179873:ENST00000589824:exon4:c.T2043C:p.C681C,ENSG00000179873:ENST00000592953:exon5:c.T1908C:p.C636C,ENSG00000179873:ENST00000589093:exon6:c.T2205C:p.C735C,ENSG00000179873:ENST00000360133:exon7:c.T2043C:p.C681C,ENSG00000179873:ENST00000443188:exon8:c.T2205C:p.C735C NA NA 19q13.43 NA NA NA NA rs2616940 0.7 0.7 0.662 0.672125 0.7237 0.6677 0.7579 0.7186 0.5 0.71 0.64 0.76 0.72 0.6938 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 -0.290414 NA NA 0.710581 0.72719 ID=COSM148756;OCCURENCE=1(stomach) 0.688 NA 3.5385856 1306 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 1306 10 26462557 26462557 G A intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs11014983 0.17 0.17 0.162 0.152356 0.162 0.2778 0.2334 0.0098 0.1483 0.16 0.3 0.22 0.01 0.1684 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.360503 NA NA 0.131616 0.032265 NA 0.123 NA 3.537984 1306 1 160797514 160797514 C G intronic LY9 NA NA NA intronic ENSG00000122224 NA NA NA NA NA 1q23.3 NA NA Name=28 NA rs576334 0.61 0.61 0.607 0.629393 0.4672 0.6954 0.6628 0.6641 0.6575 0.47 0.72 0.64 0.69 0.5477 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035097 NA NA 0.447326 0.616659 NA 0.645 NA 3.537774 1306 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 1306 1 198703306 198703306 C T intronic PTPRC NA NA NA intronic ENSG00000081237 NA NA NA NA NA 1q32.1 NA NA NA NA rs6683595 0.25 0.25 0.251 0.278754 0.1292 0.2351 0.3084 0.4508 0.2239 0.13 0.24 0.25 0.43 0.1938 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.403002 NA NA 0.139865 0.380055 NA 0.217 NA 3.537135 1306 5 26886200 26886200 C A intronic CDH9 NA NA NA intronic ENSG00000113100 NA NA NA NA NA 5p14.1 NA NA NA NA rs41271091 0.11 0.11 0.108 0.095647 0.172 0.0972 0.098 0.0348 0.0961 0.16 0.1 0.1 0.02 0.1398 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.537513 NA NA 0.151179 0.050023 NA 0.145 NA 3.537021 1306 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 1306 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 1306 4 77095271 77095271 A G intronic SCARB2 NA NA NA intronic ENSG00000138760 NA NA NA NA NA 4q21.1 NA NA NA NA rs3821981 0.27 0.27 0.279 0.276158 0.1262 0.3552 0.1657 0.4425 0.2025 0.13 0.35 0.16 0.45 0.1878 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.954942 NA NA 0.150116 0.378065 ID=COSN167250;OCCURENCE=1(large_intestine) 0.203 NA 3.535884 1306 4 185623312 185623312 C T intronic MLF1IP NA NA NA intronic ENSG00000151725 NA NA NA NA NA 4q35.1 NA NA NA NA rs28660669 0.14 0.14 0.131 0.144569 0.1481 0.001 0.1354 0.295 0.092 0.14 NA 0.15 0.29 0.153 0.29 NA NA 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 0.163023 0.267516 NA 0.21 NA 3.535877 1306 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 1306 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 1306 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 1306 4 185637523 185637523 C T intronic MLF1IP NA NA NA intronic ENSG00000151725 NA NA NA NA NA 4q35.1 NA NA NA NA rs745656 0.14 0.14 0.153 0.144569 0.1481 0.001 0.1354 0.295 0.092 0.14 NA 0.15 0.29 0.153 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159263 NA NA 0.163294 0.268653 NA 0.21 NA 3.535606 1306 22 21372374 21372374 G A intronic P2RX6 NA NA NA intronic ENSG00000099957 NA NA NA NA NA 22q11.21 NA NA NA NA rs55763104 0.23 0.23 0.241 0.240016 0.1451 0.256 0.1383 0.4213 0.1483 0.16 0.26 0.14 0.38 0.1929 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601433 NA NA 0.126395 0.371085 NA 0.232 NA 3.535605 1307 14 101439916 101439916 T G upstream;downstream SNORD114-16;SNORD114-15 NA NA NA ncRNA_intronic ENSG00000271417 NA NA NA NA NA 14q32.31 NA NA Name=5 NA rs1956726 0.48 0.48 0.483 0.493411 0.5547 0.1161 0.5605 0.6989 0.4939 0.55 0.13 0.56 0.72 0.5116 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.396296 NA NA 0.565545 0.676941 NA 0.63 NA 3.5348216 1307 5 75427935 75427935 G A exonic SV2C NA synonymous SNV SV2C:NM_014979:exon2:c.G360A:p.R120R exonic ENSG00000122012 NA synonymous SNV ENSG00000122012:ENST00000322285:exon2:c.G360A:p.R120R,ENSG00000122012:ENST00000502798:exon2:c.G360A:p.R120R NA NA 5q13.3 NA NA NA NA rs10070440 0.49 0.49 0.477 0.472644 0.7396 0.3224 0.4467 0.2625 0.6554 0.74 0.34 0.49 0.26 0.6329 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 -0.140922 NA NA 0.759572 0.351582 ID=COSM1438609;OCCURENCE=1(large_intestine) 0.471 NA 3.5345946 1307 4 5812778 5812778 G A UTR3 EVC NM_153717:c.*14G>A NA NA UTR3 ENSG00000072840 ENST00000382674:c.*14G>A,ENST00000264956:c.*14G>A NA NA NA NA 4p16.2 NA Name=MafF_(M8194),MafK_(SC-477),MafK_(ab50322) NA NA rs2291151 0.51 0.51 0.519 0.533746 0.5835 0.3353 0.4697 0.6331 0.5982 0.59 0.31 0.5 0.63 0.6099 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.795377 NA NA 0.605349 0.627326 ID=COSN167150;OCCURENCE=1(large_intestine) 0.572 NA 3.5345844 1307 22 32795751 32795751 A G intronic C22orf28 NA NA NA intronic ENSG00000100220 NA NA NA NA NA 22q12.3 NA NA NA NA rs9609527 0.07 0.07 0.063 0.0553115 0.1471 NA 0.0908 0.0098 0.0542 0.15 NA 0.09 0.02 0.1301 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 0.054967 NA NA 0.188488 0.036314 NA 0.043 NA 3.534312 1307 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 1307 11 112099410 112099410 T C intronic PTS NA NA NA intronic ENSG00000150787 NA NA NA NA NA 11q23.1 NA NA NA NA rs3819331 0.14 0.14 0.121 0.175319 0.1451 0.247 0.1383 0.0106 0.3814 0.15 0.23 0.15 0.01 0.1723 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.885852 NA NA 0.148825 0.034075 NA 0.167 NA 3.533775 1307 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 1307 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 1307 6 29795809 29795809 C T intronic HLA-G NA NA NA ncRNA_exonic ENSG00000229142 NA NA NA NA NA 6p22.1 NA NA NA NA rs1628628 0.42 0.42 0.4 0.45627 0.3728 0.4067 0.428 0.5068 0.545 0.36 0.47 0.42 0.45 0.4272 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.291505 NA NA NA NA NA 0.471 NA 3.5333333 1307 6 32943345 32943345 C T intronic BRD2 NA NA NA intronic ENSG00000204256 NA NA NA NA NA 6p21.32 NA NA Name=6 NA rs485502 0.47 0.47 0.484 0.455871 0.4901 0.376 0.4006 0.5499 0.4151 0.5 0.38 0.4 0.58 0.4746 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.034658 NA NA 0.502769 0.544371 NA 0.572 NA 3.532531 1307 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 1307 12 101685691 101685691 G A intronic UTP20 NA NA NA intronic ENSG00000120800 NA NA NA NA NA 12q23.2 NA NA NA NA rs4764641 0.09 0.09 0.094 0.0872604 0.164 0.0278 0.111 0.0197 0.1442 0.17 0.03 0.13 0.02 0.1385 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.100456 NA NA 0.165233 0.042442 NA 0.145 NA 3.532267 1307 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 1307 18 3075712 3075712 C A intronic MYOM1 NA NA NA intronic ENSG00000101605 NA NA NA NA NA 18p11.31 NA NA Name=12 NA rs2298539 0.59 0.59 0.629 0.622804 0.4652 0.5149 0.4308 0.9599 0.5767 0.48 0.53 0.43 0.95 0.5399 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 -0.200049 NA NA 0.463157 0.870849 NA 0.543 NA 3.531743 1307 19 58549366 58549366 C G exonic ZSCAN1 NA synonymous SNV ZSCAN1:NM_182572:exon3:c.C162G:p.L54L exonic ENSG00000152467 NA synonymous SNV ENSG00000152467:ENST00000282326:exon3:c.C162G:p.L54L,ENSG00000152467:ENST00000601162:exon3:c.C162G:p.L54L,ENSG00000152467:ENST00000391700:exon4:c.C162G:p.L54L NA NA 19q13.43 NA NA NA NA rs159870 0.65 0.65 0.664 0.642372 0.7346 0.4345 0.7305 0.6725 0.6585 0.73 0.48 0.71 0.68 0.6874 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 0.115524 NA NA 0.713235 0.658497 NA 0.63 NA 3.5314316 1307 12 968400 968400 C A intronic WNK1 NA NA NA intronic ENSG00000060237 NA NA NA NA NA 12p13.33 NA NA NA NA rs11064573 0.09 0.09 0.078 0.0934505 0.171 0.0675 0.0692 0.0378 0.1329 0.17 0.05 0.07 0.02 0.1492 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742694 NA NA 0.14851 0.045537 NA 0.145 NA 3.53129 1307 9 112625187 112625187 A T intronic PALM2,PALM2-AKAP2 NA NA NA intronic ENSG00000157654,ENSG00000241978,ENSG00000243444 NA NA NA NA NA 9q31.3 NA NA NA NA rs10816901 0.16 0.16 0.153 0.148562 0.1521 0.2302 0.1398 0.0877 0.1493 0.16 0.22 0.14 0.08 0.171 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.59025 NA NA 0.145655 0.089041 NA 0.246 NA 3.531245 1307 1 64038107 64038107 G T intronic EFCAB7 NA NA NA intronic ENSG00000203965 NA NA NA NA NA 1p31.3 NA NA NA NA rs6588050 0.19 0.19 0.196 0.196685 0.1441 0.1865 0.1715 0.2746 0.1738 0.14 0.19 0.18 0.29 0.1736 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.690598 NA NA 0.151261 0.221084 NA 0.13 NA 3.531039 1307 5 132220748 132220748 C T intronic AFF4 NA NA NA intronic ENSG00000072364 NA NA NA NA NA 5q31.1 NA NA NA NA rs45441396 0.11 0.11 0.091 0.0930511 0.173 0.0129 0.121 0.1014 0.0624 0.17 0.02 0.15 0.1 0.1261 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.576453 NA NA 0.169895 0.084871 NA 0.007 NA 3.531005 1307 9 101804416 101804416 A G intronic COL15A1 NA NA NA intronic ENSG00000204291 NA NA NA NA NA 9q22.33 NA NA NA NA rs7851079 0.22 0.22 0.234 0.259385 0.1491 0.3026 0.2219 0.2867 0.318 0.15 0.3 0.18 0.29 0.1832 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.892654 NA NA 0.136744 0.25261 NA 0.145 NA 3.530956 1307 13 73343039 73343039 C T exonic DIS3 NA synonymous SNV DIS3:NM_001128226:exon14:c.G1677A:p.T559T,DIS3:NM_014953:exon14:c.G1767A:p.T589T exonic ENSG00000083520 NA synonymous SNV ENSG00000083520:ENST00000377767:exon14:c.G1767A:p.T589T,ENSG00000083520:ENST00000377780:exon14:c.G1677A:p.T559T,ENSG00000083520:ENST00000545453:exon15:c.G1281A:p.T427T NA NA 13q22.1 NA NA NA NA rs2196979 0.76 0.76 0.757 0.770168 0.6859 0.748 0.7637 0.8185 0.819 0.68 0.8 0.75 0.84 0.7373 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 -0.356306 NA NA 0.712523 0.816076 NA 0.674 NA 3.5309436 1307 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 1307 4 54257131 54257131 A T intronic FIP1L1 NA NA NA intronic ENSG00000145216 NA NA NA NA NA 4q12 NA NA NA NA rs10517296 0.17 0.17 0.134 0.189297 0.1521 0.2212 0.1988 0.1558 0.2331 0.15 0.22 0.21 0.14 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 -1.44538 NA NA 0.136692 0.166132 NA 0.13 NA 3.530308 1307 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 1307 6 155606460 155606460 T A intronic TFB1M NA NA NA intronic ENSG00000029639 NA NA NA NA NA 6q25.3 NA NA NA NA rs3734320 0.12 0.12 0.104 0.10603 0.1491 0.1518 0.0908 0.0204 0.1411 0.16 0.15 0.11 0.02 0.1459 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.36816 NA NA 0.175 0.047889 NA 0.072 NA 3.53 1307 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 1307 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 1307 7 117825681 117825681 A G intronic NAA38 NA NA NA UTR5 ENSG00000128534 ENST00000422760:c.-59A>G NA NA NA NA 7q31.31 NA NA Name=65 NA rs45604739 0.38 0.38 0.34 0.373403 0.5676 0.2937 0.4078 0.1203 0.5736 0.58 0.3 0.44 0.12 0.5175 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.287947 2.287947 NA 0.551977 0.186791 NA 0.341 NA 3.5295897 1307 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 1307 1 202531741 202531741 C T intronic PPP1R12B NA NA NA intronic ENSG00000077157 NA NA NA NA NA 1q32.1 NA NA Name=29 NA rs2249811 0.49 0.49 0.429 0.495407 0.4881 0.7242 0.6052 0.1861 0.6074 0.51 0.7 0.54 0.17 0.5105 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 1.036904 NA NA 0.471873 0.260845 NA 0.449 NA 3.529527 1307 22 19048413 19048413 A G intronic DGCR2 NA NA NA exonic ENSG00000070413 NA synonymous SNV ENSG00000070413:ENST00000545799:exon6:c.T672C:p.G224G NA NA 22q11.21 NA NA NA NA rs2238739 0.48 0.48 0.504 0.538738 0.4006 0.4147 0.5029 0.7345 0.5695 0.4 0.4 0.49 0.69 0.4774 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 -0.034908 NA NA 0.426419 0.640982 NA 0.514 NA 3.5289143 1307 14 22934918 22934918 C A intergenic OR4E2,DAD1 dist=800680;dist=98889 NA NA ncRNA_intronic ENSG00000251002 NA NA NA NA NA 14q11.2 NA NA NA NA rs11627907 0.1 0.1 0.099 0.0978435 0.1541 0.005 0.1167 0.1059 0.1115 0.14 0.01 0.14 0.11 0.1405 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.877148 NA NA 0.176571 0.117968 NA 0.065 NA 3.528829 1307 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 1307 9 138703476 138703476 G C intronic CAMSAP1 NA NA NA intronic ENSG00000130559 NA NA NA NA NA 9q34.3 NA NA NA NA rs7042455 0.09 0.09 0.093 0.101837 0.1292 NA 0.0807 0.1377 0.1452 0.13 NA 0.1 0.14 0.172 0.17 NA NA 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 0.170391 0.137665 NA 0.138 NA 3.528409 1307 21 47860764 47860764 T C intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839260 0.11 0.11 0.121 0.105831 0.175 0.0139 0.0951 0.1543 0.0716 0.17 0.02 0.12 0.13 0.1277 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.095427 NA NA 0.168953 0.139582 NA 0.145 NA 3.528347 1307 17 10235360 10235360 G C intronic MYH13 NA NA NA ncRNA_intronic ENSG00000264067 NA NA NA NA NA 17p13.1 NA NA NA NA rs8064714 0.8 0.8 0.798 0.773163 0.8052 0.9623 0.8228 0.6437 0.6851 0.81 0.96 0.8 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 0.76971 NA NA NA NA NA 0.732 NA 3.5281333 1307 5 139745154 139745154 T C exonic SLC4A9 NA synonymous SNV SLC4A9:NM_001258426:exon12:c.T1668C:p.I556I,SLC4A9:NM_001258427:exon12:c.T1701C:p.I567I,SLC4A9:NM_001258428:exon12:c.T1773C:p.I591I,SLC4A9:NM_031467:exon12:c.T1701C:p.I567I exonic ENSG00000113073 NA synonymous SNV ENSG00000113073:ENST00000230993:exon12:c.T1773C:p.I591I,ENSG00000113073:ENST00000432095:exon12:c.T1668C:p.I556I,ENSG00000113073:ENST00000506545:exon12:c.T1701C:p.I567I,ENSG00000113073:ENST00000506757:exon12:c.T1701C:p.I567I,ENSG00000113073:ENST00000507527:exon12:c.T1773C:p.I591I NA NA 5q31.3 NA NA NA NA rs6860077 0.72 0.72 0.723 0.709465 0.7177 0.8353 0.7493 0.5651 0.7382 0.72 0.84 0.75 0.58 0.7155 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 0.795975 NA NA 0.705769 0.615832 NA 0.79 NA 3.5276976 1307 5 177482694 177482694 T C intergenic FAM153C,N4BP3 dist=6606;dist=57862 NA NA ncRNA_exonic ENSG00000218227 NA NA NA Score=782;Name=lod=2001 NA 5q35.3 NA NA NA NA rs11953084 0.49 0.49 0.452 0.477835 0.4861 0.5665 0.5533 0.4009 0.4284 0.49 0.55 0.55 0.37 0.4989 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.513552 NA NA 0.487539 0.395132 NA 0.42 NA 3.527461 1307 10 5446794 5446794 C T upstream TUBAL3 NA NA NA upstream ENSG00000178462 NA NA NA NA NA 10p15.1 NA Name=TAF1,Pol2-4H8,HEY1,ELF1_(SC-631),USF-1,GATA-2,ELK4,TBP,c-Fos,Sin3Ak-20,eGFP-JunD,STAT3 Name=31 NA rs7477466 0.75 0.75 0.729 0.760184 0.7167 0.8284 0.8026 0.7307 0.7444 0.71 0.83 0.78 0.7 0.7312 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 -0.201078 NA NA 0.691395 0.726963 NA 0.688 NA 3.5273716 1307 2 166170127 166170127 T C intronic SCN2A NA NA NA intronic ENSG00000136531 NA NA NA Score=545;Name=lod=218 NA 2q24.3 NA NA NA NA rs2121371 0.77 0.77 0.74 0.772364 0.83 0.7431 0.7939 0.792 0.7014 0.82 0.71 0.81 0.74 0.8016 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 0.959081 NA NA 0.841047 0.804585 NA 0.797 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118252.1;CLNDSDB=.;CLNDSDBID=. 3.527353 1307 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 1307 6 35056443 35056443 A G UTR3 ANKS1A NM_015245:c.*57A>G NA NA UTR3 ENSG00000064999 ENST00000360359:c.*57A>G NA NA NA Name=Obesity-related traits 6p21.31 NA NA NA NA rs2005 0.84 0.84 0.849 0.844449 0.8956 0.6835 0.9179 0.8759 0.863 0.9 0.67 0.93 0.9 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 -0.941877 NA NA 0.910748 0.890896 NA 0.891 NA 3.5269854 1307 21 15893567 15893567 A T intronic SAMSN1 NA NA NA intronic ENSG00000155307 NA NA NA NA NA 21q11.2 NA NA NA NA rs760344 0.19 0.19 0.188 0.200879 0.162 0.2341 0.0951 0.3079 0.137 0.15 0.23 0.1 0.26 0.1711 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.426535 1.426535 NA 0.140054 0.288301 NA 0.152 NA 3.526846 1307 10 115985784 115985784 C T intronic TDRD1 NA NA NA intronic ENSG00000095627 NA NA NA NA NA 10q25.3 NA NA NA NA rs34291959 0.13 0.13 0.124 0.130192 0.172 0.002 0.1326 0.2262 0.0879 0.17 0.0017 0.14 0.2 0.1356 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.751614 1.751614 NA 0.16593 0.200635 NA 0.109 NA 3.52647 1307 7 158711584 158711584 A G intronic WDR60 NA NA NA intronic ENSG00000126870 NA NA NA NA NA 7q36.3 NA NA NA NA rs10279428 0.15 0.15 0.157 0.144768 0.17 0.0397 0.1239 0.2723 0.0695 0.16 0.05 0.14 0.26 0.1441 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.138628 NA NA 0.160181 0.231714 NA 0.159 NA 3.525719 1307 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 1307 1 109351501 109351501 A G UTR3 STXBP3 NM_007269:c.*2A>G NA NA UTR3 ENSG00000116266 ENST00000370008:c.*2A>G NA NA NA NA 1p13.3 NA NA NA NA rs1149154 0.42 0.42 0.401 0.407348 0.2575 0.7768 0.4741 0.2315 0.3712 0.26 0.77 0.42 0.26 0.3191 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 -1.153328 NA NA 0.231512 0.247844 NA 0.261 NA 3.5252214 1308 12 54805753 54805753 G T intronic ITGA5 NA NA NA ncRNA_intronic ENSG00000258086,ENSG00000258137 NA NA NA NA NA 12q13.13 Score=873;Name=V$MZF1_02 NA NA NA rs1922254 0.9 0.9 0.887 0.863618 0.9205 0.9345 0.853 0.8154 0.8047 0.92 0.95 0.87 0.82 0.888 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 -0.992003 NA NA NA NA NA 0.848 NA 3.5248333 1308 17 4349508 4349508 G A intronic SPNS3 NA NA NA intronic ENSG00000182557 NA NA NA NA NA 17p13.2 NA NA NA NA rs56005249 0.12 0.12 0.096 0.128794 0.166 0.0308 0.1527 0.1165 0.1912 0.16 0.02 0.19 0.11 0.1485 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 0.491212 NA NA 0.160698 0.139355 NA 0.116 NA 3.524802 1308 4 71389669 71389669 T C intronic AMTN NA NA NA intronic ENSG00000187689 NA NA NA NA NA 4q13.3 NA NA NA NA rs3912755 0.22 0.22 0.211 0.258786 0.1262 0.2073 0.1744 0.4614 0.2342 0.13 0.18 0.19 0.43 0.1912 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300302 NA NA 0.157907 0.409896 NA 0.181 NA 3.524693 1308 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 1308 17 78201554 78201554 T C intronic SLC26A11 NA NA NA intronic ENSG00000181045 NA NA NA NA NA 17q25.3 NA NA NA NA rs6565652 0.7 0.7 0.69 0.727835 0.4761 0.9752 0.7248 0.7322 0.728 0.5 0.97 0.7 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 -0.746654 NA NA NA NA NA 0.391 NA 3.5239 1308 1 63044464 63044464 C T intronic DOCK7 NA NA NA intronic ENSG00000116641 NA NA NA NA NA 1p31.3 NA NA NA NA rs11207993 0.09 0.09 0.069 0.0858626 0.166 NA 0.1671 0.0416 0.0941 0.17 NA 0.14 0.02 0.143 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170491 NA NA 0.167132 0.055152 NA 0.087 NA 3.523868 1308 17 38142978 38142978 C T intronic PSMD3 NA NA NA intronic ENSG00000108344 NA NA NA NA NA 17q21.1 NA NA NA NA rs3859188 0.18 0.18 0.204 0.170727 0.165 0.0069 0.1412 0.3888 0.0716 0.17 0.01 0.15 0.42 0.1476 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440963 NA NA 0.164302 0.343849 NA 0.239 NA 3.523098 1308 5 148725199 148725199 A G intronic GRPEL2 NA NA NA intronic ENSG00000164284 NA NA NA NA NA 5q32 NA Name=E2F1,HEY1,Pol2-4H8,MEF2A,HMGN3,TAF1,POU2F2,E2F6,Ini1,HA-E2F1,Pol2,ZNF263,YY1,Egr-1,Pol2(b),E2F4,Sin3Ak-20,c-Myc,Oct-2,YY1_(C-20),Max NA NA rs352347 0.51 0.51 0.527 0.490815 0.494 0.3115 0.4438 0.7617 0.3395 0.49 0.34 0.46 0.75 0.5045 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 2.026312 2.026312 NA 0.478438 0.709817 NA 0.428 NA 3.523062 1308 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 1308 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 1308 2 141459964 141459964 C T intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA NA NA 2q22.1 NA NA NA NA rs16844555 0.16 0.16 0.153 0.182308 0.1382 0.0883 0.1686 0.2383 0.2587 0.14 0.07 0.18 0.26 0.1792 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.943302 NA NA 0.160233 0.232183 NA 0.174 NA 3.522367 1308 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 1308 2 190444630 190444630 C G intronic SLC40A1 NA NA NA intronic ENSG00000138449 NA NA NA NA NA 2q32.2 NA Name=GATA-1,Pol2,CEBPB Name=66 NA rs1439816 0.71 0.71 0.68 0.659545 0.839 0.8194 0.7752 0.2716 0.7526 0.86 0.83 0.77 0.28 0.7872 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 -0.113331 NA NA 0.851512 0.375397 NA 0.623 NA 3.522288 1308 19 55396900 55396900 A G exonic FCAR NA synonymous SNV FCAR:NM_133272:exon2:c.A288G:p.R96R,FCAR:NM_133273:exon2:c.A288G:p.R96R,FCAR:NM_133274:exon2:c.A288G:p.R96R,FCAR:NM_133278:exon2:c.A288G:p.R96R,FCAR:NM_002000:exon3:c.A324G:p.R108R,FCAR:NM_133269:exon3:c.A324G:p.R108R,FCAR:NM_133271:exon3:c.A324G:p.R108R,FCAR:NM_133279:exon3:c.A324G:p.R108R exonic ENSG00000186431 NA synonymous SNV ENSG00000186431:ENST00000359272:exon2:c.A288G:p.R96R,ENSG00000186431:ENST00000391723:exon2:c.A288G:p.R96R,ENSG00000186431:ENST00000391724:exon2:c.A288G:p.R96R,ENSG00000186431:ENST00000391726:exon2:c.A288G:p.R96R,ENSG00000186431:ENST00000488066:exon2:c.A288G:p.R96R,ENSG00000186431:ENST00000345937:exon3:c.A324G:p.R108R,ENSG00000186431:ENST00000355524:exon3:c.A324G:p.R108R,ENSG00000186431:ENST00000391725:exon3:c.A324G:p.R108R,ENSG00000186431:ENST00000469767:exon3:c.A324G:p.R108R NA NA 19q13.42 NA NA NA NA rs1865096 0.75 0.75 0.763 0.739417 0.7157 0.7341 0.6167 0.8933 0.6483 0.72 0.76 0.63 0.88 0.6949 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 0.030629 NA NA 0.733837 0.85497 ID=COSM1396396,COSM1396395;OCCURENCE=1(large_intestine) 0.703 NA 3.5222296 1308 5 55155402 55155402 C T exonic IL31RA NA synonymous SNV IL31RA:NM_001242636:exon2:c.C72T:p.P24P,IL31RA:NM_001242637:exon2:c.C129T:p.P43P,IL31RA:NM_139017:exon2:c.C129T:p.P43P,IL31RA:NM_001242638:exon4:c.C72T:p.P24P exonic ENSG00000164509 NA synonymous SNV ENSG00000164509:ENST00000354961:exon2:c.C72T:p.P24P,ENSG00000164509:ENST00000359040:exon2:c.C129T:p.P43P,ENSG00000164509:ENST00000396836:exon2:c.C129T:p.P43P,ENSG00000164509:ENST00000447346:exon2:c.C129T:p.P43P,ENSG00000164509:ENST00000396834:exon4:c.C72T:p.P24P NA NA 5q11.2 NA NA NA NA rs1009639 0.61 0.61 0.62 0.628395 0.7276 0.4544 0.4942 0.6543 0.7658 0.73 0.45 0.59 0.64 0.6877 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 -1.02409 NA NA 0.729302 0.662279 NA 0.71 NA 3.5220646 1308 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 1308 6 31609272 31609272 T C intronic BAG6 NA NA NA intronic ENSG00000204463 NA NA NA NA NA 6p21.33 NA NA NA NA rs3130628 0.14 0.14 0.13 0.142173 0.1461 0.0714 0.0836 0.2436 0.1155 0.15 0.06 0.09 0.25 0.1528 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.314206 NA NA 0.179302 0.222878 NA 0.21 NA 3.521798 1308 12 27175494 27175494 T C UTR5 MED21 NM_004264:c.-19T>C,NM_001271811:c.-19T>C NA NA UTR5 ENSG00000152944 ENST00000546323:c.-19T>C,ENST00000282892:c.-19T>C NA NA NA NA 12p11.23 NA Name=Pol2(phosphoS2),Pol2,HA-E2F1,USF1_(SC-8983),TAF7_(SQ-8),TCF12,Ini1,E2F6_(H-50),POU2F2,TAF1,RFX5_(N-494),Pol2-4H8,ELF1_(SC-631),NF-YA,HEY1,KAP1,YY1_(C-20),Max,IRF1,TAL1_(SC-12984),SP1,Oct-2,c-Myc,Sin3Ak-20,TBP,Pol2(b),NF-YB,YY1,GTF2F1_(RAP-74) Name=148 NA rs3963548 0.94 0.94 0.942 0.932308 0.9404 0.999 0.9553 0.8578 0.9397 0.95 1 0.95 0.86 0.9388 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.006048 NA NA 0.932674 0.857921 NA 0.928 NA 3.5214594 1308 X 150789950 150789950 C T intronic PASD1 NA NA NA ncRNA_intronic ENSG00000239429 NA NA NA NA NA Xq28 NA Name=eGFP-JunD NA NA rs945815 0.8 0.8 0.77027 NA NA NA NA NA NA 0.95 0.97 0.88 0.3 0.8883 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 -1.253223 NA NA 0.923695 0.33916 NA 0.543 NA 3.5213383 1308 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 1308 15 22483277 22483277 A G intergenic OR4N3P,REREP3 dist=68882;dist=63288 NA NA upstream ENSG00000270356 NA NA NA NA NA 15q11.2 NA Name=CTCF NA NA rs753259 NA NA 0.446 NA NA NA NA NA NA NA NA NA NA 0.4687 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.44221 NA NA 0.510033 0.50892 NA 0.428 NA 3.521267 1308 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 1308 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 1308 4 1377615 1377615 A G exonic UVSSA NA synonymous SNV UVSSA:NM_020894:exon13:c.A1923G:p.S641S exonic ENSG00000163945 NA synonymous SNV ENSG00000163945:ENST00000511563:exon6:c.A576G:p.S192S,ENSG00000163945:ENST00000512728:exon6:c.A576G:p.S192S,ENSG00000163945:ENST00000389851:exon13:c.A1923G:p.S641S,ENSG00000163945:ENST00000507531:exon13:c.A1923G:p.S641S,ENSG00000163945:ENST00000511216:exon13:c.A1923G:p.S641S NA NA 4p16.3 NA NA NA NA rs9996817 0.73 0.73 0.69 0.717252 0.7058 0.7113 0.7939 0.7163 0.682 0.71 0.72 0.77 0.72 0.7195 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 -0.932873 NA NA 0.720814 0.719927 ID=COSM447388;OCCURENCE=1(breast) 0.667 NA 3.5205526 1308 17 76496492 76496492 A G exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon36:c.T5535C:p.P1845P exonic ENSG00000187775,ENSG00000268470 NA nonsynonymous SNV ENSG00000268470:ENST00000598378:exon1:c.A424G:p.R142G NA NA 17q25.3 NA NA NA NA rs2028734 0.9 0.9 0.897 0.929712 0.8121 0.9702 0.8963 0.9924 0.9479 0.82 0.97 0.86 0.98 0.8625 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 -0.525828 NA NA 0.80486 0.968717 NA 0.935 NA 3.52054 1308 6 32713867 32713867 C T intronic HLA-DQA2 NA NA NA intronic ENSG00000237541 NA NA NA NA NA 6p21.32 NA NA NA NA rs9276435 0.09 0.09 0.085 0.0778754 0.169 0.0268 0.0706 0.0363 0.0982 0.17 0.02 0.09 0.06 0.135 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.897801 1.897801 NA 0.175526 0.060596 NA 0.101 NA 3.520474 1308 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 1308 3 196749798 196749798 T G intronic MFI2 NA NA NA intronic ENSG00000163975 NA NA NA NA NA 3q29 NA Name=EBF1_(C-8),ELF1_(SC-631),EBF,PU.1 Name=7 NA rs2288766 0.81 0.81 0.772 0.802117 0.837 0.8472 0.7752 0.8109 0.727 0.83 0.83 0.8 0.78 0.8069 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 -0.353002 NA NA 0.83593 0.825692 NA 0.877 NA 3.52017 1308 10 96535124 96535124 A G intronic CYP2C19 NA NA NA intronic ENSG00000165841 NA NA NA NA NA 10q23.33 NA NA NA NA rs12769205 0.21 0.21 0.181 0.228435 0.1451 0.3125 0.1052 0.1967 0.3579 0.15 0.33 0.13 0.2 0.1863 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.673703 NA NA 0.148605 0.187926 NA 0.196 NA 3.519995 1308 15 42170506 42170506 C T intronic SPTBN5 NA NA NA intronic ENSG00000137877 NA NA NA NA NA 15q15.1 NA Name=GATA3_(SC-268) NA NA rs747780 0.51 0.51 0.46 0.448882 0.504 0.6974 0.5461 0.2088 0.3916 0.5 0.72 0.56 0.23 0.4859 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207208 NA NA 0.490539 0.242907 NA 0.413 NA 3.519561 1308 10 26443625 26443625 A C intronic MYO3A NA NA NA intronic ENSG00000095777 NA NA NA NA NA 10p12.1 NA NA NA NA rs3818957 0.19 0.19 0.185 0.180511 0.163 0.2808 0.2478 0.1067 0.1472 0.16 0.3 0.24 0.08 0.1754 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.96516 NA NA 0.142209 0.105765 NA 0.152 NA 3.519391 1308 12 113435450 113435450 A T exonic OAS2 NA synonymous SNV OAS2:NM_002535:exon4:c.A753T:p.V251V,OAS2:NM_016817:exon4:c.A753T:p.V251V exonic ENSG00000111335 NA synonymous SNV ENSG00000111335:ENST00000342315:exon4:c.A753T:p.V251V,ENSG00000111335:ENST00000392583:exon4:c.A753T:p.V251V,ENSG00000111335:ENST00000552756:exon4:c.A528T:p.V176V NA NA 12q24.13 NA NA NA NA rs1293755 0.85 0.85 0.843 0.877596 0.6819 1 0.7997 0.9887 0.8579 0.69 1 0.78 0.98 0.7789 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244907 NA NA 0.686628 0.940309 NA 0.79 NA 3.5192386 1308 11 124763647 124763647 A G intronic ROBO4 NA NA NA intronic ENSG00000154133 NA NA NA NA NA 11q24.2 NA NA NA NA rs7927528 0.23 0.23 0.248 0.260583 0.163 0.0883 0.1282 0.5772 0.2045 0.16 0.11 0.14 0.54 0.1806 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.829196 3.829196 NA 0.13759 0.475239 NA 0.333 NA 3.51881 1308 4 6325018 6325018 A T UTR3 PPP2R2C NM_001206994:c.*11T>A,NM_001206996:c.*11T>A,NM_001206995:c.*11T>A,NM_181876:c.*11T>A NA NA UTR3 ENSG00000074211 ENST00000335585:c.*11T>A,ENST00000506140:c.*11T>A,ENST00000515571:c.*11T>A,ENST00000382599:c.*11T>A,ENST00000507294:c.*11T>A NA NA NA NA 4p16.1 NA Name=TCF4 NA NA rs3796402 0.66 0.66 0.655 0.677716 0.5825 0.9395 0.6686 0.4924 0.7628 0.56 0.93 0.67 0.49 0.6398 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 0.202063 NA NA 0.592674 0.513618 NA 0.536 NA 3.5183594 1308 11 4976086 4976086 C T exonic OR51A2 NA synonymous SNV OR51A2:NM_001004748:exon1:c.G858A:p.P286P exonic ENSG00000205496 NA synonymous SNV ENSG00000205496:ENST00000380371:exon1:c.G858A:p.P286P NA NA 11p15.4 NA NA NA NA rs2570572 0.77 0.77 0.754 0.786542 0.7535 0.876 0.8458 0.7322 0.7597 0.71 0.87 0.83 0.69 0.6858 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 -0.454459 NA NA 0.709122 0.682327 NA 0.652 NA 3.5182446 1308 2 141625410 141625410 A C intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA NA NA 2q22.1 NA NA NA NA rs12987572 0.11 0.11 0.086 0.103834 0.167 0.0675 0.196 0.053 0.0798 0.17 0.06 0.15 0.05 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 0.020235 NA NA 0.169225 0.0604 NA 0.123 NA 3.518175 1308 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 1308 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 1308 11 67815086 67815086 G A intronic TCIRG1 NA NA NA intronic ENSG00000110719 NA NA NA NA NA 11q13.2 NA NA NA NA rs12418239 0.11 0.11 0.108 0.0942492 0.1839 0.0387 0.1023 0.0666 0.091 0.18 0.03 0.12 0.09 0.1373 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.984462 NA NA 0.161854 0.0875 NA 0.029 NA 3.516946 1308 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 1308 12 125603152 125603152 C T intronic AACS NA NA NA UTR5 ENSG00000081760 ENST00000538851:c.-44C>T NA NA NA NA 12q24.31 NA NA NA NA rs35814268 0.14 0.14 0.138 0.169529 0.2137 0.1181 0.2089 0.0219 0.3487 0.2 0.14 0.21 0.02 0.2041 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079589 NA NA 0.232093 0.04857 NA 0.159 NA 3.5167737 1308 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 1308 19 3740771 3740771 G A intronic TJP3 NA NA NA intronic ENSG00000105289 NA NA NA NA NA 19p13.3 NA NA NA NA rs112931167 0.16 0.16 0.134 0.176917 0.16 0.1786 0.2767 0.0182 0.3364 0.16 0.2 0.26 0.03 0.184 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.047762 NA NA 0.140144 0.044606 NA 0.109 NA 3.515856 1308 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 1308 3 131188528 131188528 T G intronic MRPL3 NA NA NA intronic ENSG00000114686 NA NA NA NA NA 3q22.1 NA NA NA NA rs2291382 0.1 0.1 0.091 0.105032 0.16 0.0645 0.0692 0.0151 0.2372 0.16 0.07 0.1 0.03 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 0.741751 NA NA 0.174808 0.037676 NA 0.145 NA 3.515692 1308 1 86173298 86173298 C T intronic ZNHIT6 NA NA NA intronic ENSG00000117174 NA NA NA NA NA 1p22.3 NA Name=SRF NA NA rs1539444 0.48 0.48 0.468 0.444289 0.5159 0.5119 0.5274 0.3578 0.3589 0.51 0.49 0.52 0.39 0.4768 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.523413 NA NA 0.492093 0.389923 NA 0.471 NA 3.515207 1308 7 156981672 156981672 A G intronic UBE3C NA NA NA UTR3 ENSG00000009335 ENST00000389103:c.*17A>G NA NA NA NA 7q36.3 NA NA NA NA rs7802642 0.26 0.26 0.255 0.259185 0.1799 0.3859 0.2219 0.2534 0.2444 0.15 0.42 0.25 0.26 0.2979 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180462 NA NA 0.173782 0.224 NA 0.254 NA 3.5150847 1308 3 63645575 63645575 T C intronic SNTN NA NA NA intronic ENSG00000188817 NA NA NA NA NA 3p14.2 NA NA NA NA rs34568643 0.17 0.17 0.185 0.184904 0.162 0.1508 0.1383 0.2262 0.2209 0.17 0.15 0.13 0.23 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 0.258592 NA NA 0.153175 0.192011 NA 0.123 NA 3.515025 1309 10 104184189 104184189 T C intronic CUEDC2 NA NA NA intronic ENSG00000107874 NA NA NA NA NA 10q24.32 NA NA NA NA rs12778231 0.14 0.14 0.112 0.10623 0.1789 0.1796 0.1297 0.0227 0.0521 0.18 0.16 0.14 0.04 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 -1.748215 NA NA 0.168109 0.041963 NA 0.065 NA 3.514991 1309 17 78446932 78446932 C A intronic NPTX1 NA NA NA intronic ENSG00000171246 NA NA NA NA NA 17q25.3 NA NA NA NA rs11657630 0.44 0.44 0.384 0.428115 0.4851 0.4444 0.5994 0.2269 0.5031 0.48 0.44 0.6 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 -0.683088 NA NA NA NA NA 0.464 NA 3.5149 1309 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 1309 8 135612595 135612595 A G ncRNA_exonic ZFAT-AS1 NA NA NA ncRNA_exonic ENSG00000248492 NA NA NA NA NA 8q24.22 NA Name=EBF1_(C-8),Pol2-4H8,TAF1,NFKB,IRF4_(M-17),Pol2,POU2F2,TCF12,EBF,Oct-2,PAX5-C20,RXRA 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 1309 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 1309 10 5436260 5436260 A G exonic TUBAL3 NA synonymous SNV TUBAL3:NM_001171864:exon4:c.T441C:p.A147A,TUBAL3:NM_024803:exon4:c.T561C:p.A187A exonic ENSG00000178462 NA synonymous SNV ENSG00000178462:ENST00000380419:exon4:c.T561C:p.A187A,ENSG00000178462:ENST00000479328:exon4:c.T441C:p.A147A NA NA 10p15.1 NA NA NA NA rs7910290 0.77 0.77 0.748 0.779153 0.7197 0.8294 0.7997 0.789 0.7607 0.72 0.82 0.78 0.79 0.7381 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 -1.212712 NA NA 0.695116 0.770086 NA 0.746 NA 3.5137506 1309 5 171583610 171583610 A G intronic STK10 NA NA NA intronic ENSG00000072786 NA NA NA NA NA 5q35.1 NA NA NA NA rs41275267 0.22 0.22 0.19 0.208866 0.1431 0.247 0.2522 0.2322 0.1748 0.16 0.27 0.22 0.25 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 0.265001 NA NA 0.155465 0.187245 ID=COSN167644;OCCURENCE=1(large_intestine) 0.167 NA 3.513735 1309 13 110813532 110813532 G A intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs2275843 0.19 0.19 0.17 0.192891 0.161 0.3333 0.1772 0.115 0.1973 0.15 0.33 0.16 0.11 0.1643 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.017759 NA NA 0.161395 0.118248 ID=COSM147715;OCCURENCE=1(stomach) 0.196 NA 3.513305 1309 13 110813523 110813523 C T intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs2275842 0.19 0.19 0.164 0.192492 0.161 0.3323 0.1772 0.115 0.1963 0.15 0.33 0.16 0.11 0.1643 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.111723 NA NA 0.161512 0.118248 ID=COSN164551;OCCURENCE=1(breast) 0.196 NA 3.513188 1309 8 22105502 22105502 T C exonic POLR3D NA synonymous SNV POLR3D:NM_001722:exon4:c.T342C:p.A114A exonic ENSG00000168495 NA synonymous SNV ENSG00000168495:ENST00000397802:exon3:c.T342C:p.A114A,ENSG00000168495:ENST00000518039:exon3:c.T342C:p.A114A,ENSG00000168495:ENST00000306433:exon4:c.T342C:p.A114A,ENSG00000168495:ENST00000519237:exon4:c.T342C:p.A114A NA NA 8p21.3 NA NA NA NA rs1126677 0.7 0.7 0.648 0.707867 0.7237 0.8264 0.7565 0.4501 0.8834 0.74 0.83 0.75 0.44 0.7356 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 0.965561 NA NA 0.694302 0.481389 NA 0.529 NA 3.5130646 1309 7 150703915 150703915 G T intronic NOS3 NA NA NA intronic ENSG00000164867 NA NA NA NA NA 7q36.1 NA NA NA NA rs2853796 0.55 0.55 0.519 0.524561 0.4871 0.5913 0.6513 0.4319 0.5297 0.52 0.62 0.63 0.45 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 -0.654957 NA NA NA NA NA 0.449 NA 3.5129 1309 20 43929473 43929473 A G intronic MATN4 NA NA NA intronic ENSG00000124159 NA NA NA NA NA 20q13.12 NA NA NA NA rs2072789 0.44 0.44 0.42 0.402556 0.4871 0.128 0.5 0.6006 0.2618 0.5 0.16 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 0.863536 NA NA NA NA ID=COSN166536;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.529 NA 3.5129 1309 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_(SC-5916),CTCF 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 1309 16 87446053 87446053 G A exonic ZCCHC14 NA synonymous SNV ZCCHC14:NM_015144:exon12:c.C1863T:p.A621A exonic ENSG00000140948 NA synonymous SNV ENSG00000140948:ENST00000268616:exon12:c.C1863T:p.A621A,ENSG00000140948:ENST00000568020:exon12:c.C1863T:p.A621A NA NA 16q24.2 NA NA NA NA rs2042395 0.46 0.46 0.434 0.459864 0.7565 0.3095 0.5231 0.1127 0.7342 0.75 0.29 0.56 0.13 0.6429 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 -1.245655 NA NA 0.755525 0.241238 ID=COSM329616;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.384 NA 3.5117416 1309 19 32927311 32927311 G A intronic DPY19L3 NA NA NA intronic ENSG00000178904 NA NA NA NA NA 19q13.11 NA NA NA NA rs2302773 0.13 0.13 0.119 0.147165 0.162 0.119 0.183 0.1309 0.1575 0.15 0.12 0.15 0.11 0.1683 0.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.542394 NA NA 0.157993 0.129003 NA 0.138 NA 3.511707 1309 3 53910122 53910122 G A intronic ACTR8 NA NA NA intronic ENSG00000113812 NA NA NA NA NA 3p21.1 NA NA NA NA rs62752960 0.54 0.54 NA 0.307308 0.1243 0.381 0.3213 0.3616 0.3364 0.24 0.89 0.49 0.65 0.3641 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 -0.504026 NA NA NA NA NA 0.159 NA 3.5116 1309 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 1309 2 234967539 234967539 T A exonic SPP2 NA synonymous SNV SPP2:NM_006944:exon3:c.T270A:p.T90T exonic ENSG00000072080 NA synonymous SNV ENSG00000072080:ENST00000425558:exon2:c.T30A:p.T10T,ENSG00000072080:ENST00000168148:exon3:c.T270A:p.T90T,ENSG00000072080:ENST00000373368:exon3:c.T270A:p.T90T NA NA 2q37.1 NA NA NA NA rs593668 0.66 0.66 0.621 0.690495 0.7187 0.629 0.6772 0.6097 0.8436 0.72 0.61 0.69 0.58 0.7153 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.897426 NA NA 0.721163 0.617794 NA 0.543 NA 3.5115036 1309 3 189590825 189590825 G A intronic TP63 NA NA NA intronic ENSG00000073282 NA NA NA NA NA 3q28 NA NA NA NA rs9840360 0.19 0.19 0.211 0.249201 0.1968 0.1567 0.1427 0.4418 0.2137 0.17 0.13 0.15 0.32 0.2105 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.331565 NA NA 0.081744 0.215615 NA NA NA 3.510956 1309 19 7735089 7735089 G C intronic RETN NA NA NA intronic ENSG00000104918 NA NA NA NA NA 19p13.2 NA Name=c-Myc,Max,Pol2 Name=12 NA rs10402265 0.76 0.76 0.756 0.758586 0.84 0.6736 0.8876 0.6331 0.8405 0.85 0.67 0.89 0.63 0.8149 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 0.573254 NA NA 0.834168 0.680243 NA 0.428 NA 3.510932 1309 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 1309 11 85593529 85593529 G A intronic CCDC83 NA NA NA intronic ENSG00000150676 NA NA NA NA NA 11q14.1 NA NA NA NA rs17817308 0.1 0.1 0.09 0.0806709 0.1789 0.0169 0.1153 0.056 0.0542 0.18 0.02 0.14 0.04 0.1389 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.371669 NA NA 0.172715 0.077621 NA 0.072 NA 3.509485 1309 4 122681373 122681373 T C UTR3 TMEM155 NM_152399:c.*76A>G NA NA UTR3 ENSG00000164112 ENST00000337677:c.*76A>G,ENST00000394396:c.*76A>G,ENST00000394394:c.*76A>G NA NA NA NA 4q27 NA NA NA NA rs4342205 0.89 0.89 0.89 0.900958 0.8241 0.8938 0.8991 0.9766 0.8865 0.83 0.9 0.88 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 0.884728 NA NA NA NA NA 0.913 NA 3.5092334 1309 16 5110271 5110271 C T intronic C16orf89 NA NA NA intronic ENSG00000033011,ENSG00000153446 NA NA NA NA NA 16p13.3 NA NA NA NA rs2270834 0.19 0.19 0.194 0.17492 0.172 0.2946 0.1167 0.1218 0.1677 0.18 0.33 0.12 0.12 0.1655 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211179 NA NA 0.153295 0.113837 NA 0.181 NA 3.509205 1309 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 1309 2 214182100 214182100 A T UTR3 SPAG16 NM_001025436:c.*4A>T NA NA UTR3 ENSG00000144451 ENST00000432529:c.*4A>T NA NA NA NA 2q34 NA NA NA NA rs10183630 0.15 0.15 0.13 0.120008 0.2724 0.006 0.1844 0.0643 0.1104 0.27 0.01 0.22 0.09 0.2354 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.70263 NA NA 0.316593 0.086739 NA 0.268 NA 3.5089404 1309 1 202718202 202718202 G A exonic KDM5B NA synonymous SNV KDM5B:NM_006618:exon14:c.C1887T:p.H629H exonic ENSG00000117139 NA synonymous SNV ENSG00000117139:ENST00000235790:exon14:c.C1413T:p.H471H,ENSG00000117139:ENST00000367265:exon14:c.C1887T:p.H629H,ENSG00000117139:ENST00000367264:exon15:c.C1995T:p.H665H NA NA 1q32.1 NA NA NA NA rs1892164 0.57 0.57 0.561 0.520168 0.7425 0.5208 0.6715 0.2352 0.5685 0.75 0.54 0.67 0.25 0.6691 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 0.810666 NA NA 0.746744 0.308897 NA 0.551 NA 3.5083226 1309 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=CHD2_(N-1250),E2F6,E2F6_(H-50),NF-YA,SP1,IRF1,ZBTB33,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 1309 12 4383158 4383158 T C UTR5 CCND2 NM_001759:c.-49T>C NA NA ncRNA_UTR5 ENSG00000118971 NA NA NA Score=251;Name=lod=14 NA 12p13.32 NA Name=Sin3Ak-20,Pol2(b),ZNF263,Pol2,NFKB,Pol2-4H8 NA NA rs3217786 0.97 0.97 0.981 0.970647 1 1 0.9914 0.8933 1 0.99 1 0.98 0.9 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 -0.276657 NA NA 0.99953 0.930216 NA 0.957 NA 3.50797 1309 6 31323409 31323409 T C intronic HLA-B NA NA NA intronic ENSG00000234745 NA NA NA NA NA 6p21.33 NA Name=Pol2,USF-1,Pol2-4H8 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 1309 8 25230267 25230267 T C intronic DOCK5 NA NA NA intronic ENSG00000147459 NA NA NA NA NA 8p21.2 NA Name=Pol2 NA NA rs2271106 0.44 0.44 0.404 0.438099 0.508 0.3968 0.464 0.382 0.4663 0.51 0.39 0.49 0.37 0.4944 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473179 NA NA 0.489884 0.378802 NA 0.428 NA 3.507716 1309 17 65574283 65574283 A G intronic PITPNC1 NA NA NA intronic ENSG00000154217 NA NA NA NA NA 17q24.2 NA Name=IRF4_(M-17),TBP,BATF Name=22 NA rs2570035 0.86 0.86 0.858 0.845847 0.8201 0.873 0.9164 0.8911 0.7331 0.82 0.85 0.9 0.91 0.8444 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 0.171644 NA NA 0.827958 0.891099 NA 0.833 NA 3.507542 1309 9 137630587 137630587 T C intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA Score=444;Name=lod=85 NA 9q34.3 NA NA NA NA rs3128612 0.54 0.54 0.568 0.569289 0.503 0.5139 0.3242 0.8381 0.5051 0.51 0.5 0.34 0.79 0.4997 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 1.338675 1.338675 NA 0.490116 0.788924 NA 0.623 NA 3.507184 1309 18 2920288 2920288 G A UTR3 LPIN2 NM_014646:c.*3C>T NA NA UTR3 ENSG00000101577 ENST00000261596:c.*3C>T NA NA NA NA 18p11.31 NA NA NA NA rs3745012 0.35 0.35 0.342 0.36222 0.2594 0.5635 0.389 0.2216 0.4315 0.26 0.58 0.36 0.24 0.3131 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.786754 NA NA 0.25407 0.234453 NA 0.312 NA 3.5067634 1309 1 224517842 224517842 C T UTR5 NVL NM_206840:c.-18317G>A,NM_001243146:c.-25007G>A,NM_001243147:c.-13G>A,NM_002533:c.-13G>A NA NA UTR5 ENSG00000143748 ENST00000281701:c.-13G>A,ENST00000391875:c.-18317G>A,ENST00000361463:c.-18317G>A,ENST00000470989:c.-13G>A,ENST00000461546:c.-13G>A NA NA NA NA 1q42.11 NA Name=Pol2,Pol2(phosphoS2),Pol2-4H8,TAF1,HEY1,TBP Name=148 NA rs2896990 0.85 0.85 0.823 0.829872 0.9672 0.8899 0.9337 0.5605 0.9172 0.97 0.9 0.93 0.57 0.9164 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 0.688326 NA NA 0.943372 0.618475 NA 0.848 NA 3.5063614 1309 13 114784435 114784435 C T intronic RASA3 NA NA NA intronic ENSG00000185989 NA NA NA NA NA 13q34 NA NA NA NA rs12875472 0.17 0.17 0.172 0.182109 0.171 0.1984 0.098 0.1982 0.2147 0.17 0.19 0.11 0.18 0.1608 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 0.05062 NA NA 0.161977 0.171811 NA 0.087 NA 3.506223 1309 1 150938616 150938616 G A UTR3 CERS2 NM_181746:c.*8C>T,NM_022075:c.*8C>T NA NA ncRNA_exonic ENSG00000259357 NA NA NA NA NA 1q21.3 NA Name=Pol2 Name=3 NA rs267739 0.98 0.98 0.989 0.979233 1 1 0.9928 0.9251 1 1 1 0.99 0.93 0.994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.25356 NA NA 1 0.940082 NA 0.978 NA 3.506 1309 5 132334252 132334252 A G UTR3 ZCCHC10 NM_017665:c.*23T>C NA NA UTR3 ENSG00000155329 ENST00000324170:c.*23T>C,ENST00000355372:c.*23T>C,ENST00000509437:c.*23T>C,ENST00000513848:c.*23T>C,ENST00000513541:c.*285T>C,ENST00000509008:c.*285T>C NA NA NA NA 5q31.1 NA NA NA NA rs3087646 0.37 0.37 0.373 0.357428 0.2644 0.3968 0.2363 0.6104 0.1564 0.25 0.41 0.25 0.57 0.2841 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.291263 NA NA 0.279045 0.548975 NA 0.355 NA 3.5057884 1309 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 1309 4 120423729 120423729 T C intronic PDE5A NA NA NA ncRNA_intronic ENSG00000245958 NA NA NA NA NA 4q26 NA NA NA NA rs3733524 0.27 0.27 0.261 0.238219 0.2843 0.3929 0.2752 0.1135 0.1738 0.29 0.4 0.24 0.1 0.256 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.946289 1.946289 NA 0.287392 0.125284 NA 0.203 NA 3.5056413 1309 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 1309 9 33465928 33465928 T C intronic NOL6 NA NA NA intronic ENSG00000165271 NA NA NA NA NA 9p13.3 NA NA NA NA rs3739680 0.12 0.12 0.117 0.126797 0.172 0.1399 0.098 0.0189 0.2331 0.16 0.14 0.13 0.02 0.1496 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.457548 NA NA 0.173023 0.042215 NA 0.123 NA 3.505377 1309 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 1309 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 1309 7 56049990 56049990 A G intronic GBAS NA NA NA intronic ENSG00000146729 NA NA NA NA NA 7p11.2 NA NA NA NA rs66485869 0.1 0.1 0.085 0.0976438 0.1471 0.0139 0.1412 0.1059 0.091 0.16 0.01 0.14 0.09 0.1695 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.061696 NA NA 0.178372 0.129596 NA 0.101 NA 3.505028 1310 16 15973654 15973654 G T intronic FOPNL NA NA NA intronic ENSG00000133393 NA NA NA NA NA 16p13.11 NA Name=CEBPB,p300_(N-15),STAT3,Ini1 Name=115 NA rs8045082 0.82 0.82 0.752 0.797125 0.8569 0.7728 0.8963 0.7844 0.7076 0.86 0.75 0.9 0.76 0.8145 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 -0.398711 NA NA 0.823913 0.776286 NA 0.572 NA 3.504687 1310 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 1310 5 131312327 131312327 G T intronic ACSL6 NA NA NA intronic ENSG00000164398 NA NA NA NA NA 5q31.1 NA Name=EBF1_(C-8),EBF Name=3 NA rs370652 0.9 0.9 0.905 0.897564 0.8141 0.9187 0.9135 0.9924 0.8221 0.82 0.93 0.9 0.98 0.8521 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 0.682436 NA NA 0.829884 0.968679 NA 0.964 NA 3.503916 1310 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 1310 1 21934667 21934667 G A intronic RAP1GAP NA NA NA intronic ENSG00000076864 NA NA NA NA NA 1p36.12 NA Name=GTF2F1_(RAP-74),HEY1,Pol2-4H8,YY1,TBP,HMGN3,TAF1 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 1310 19 58152033 58152033 A G intronic ZNF211 NA NA NA intronic ENSG00000121417 NA NA NA NA NA 19q13.43 NA NA NA NA rs3746220 0.22 0.22 0.219 0.214058 0.159 0.3214 0.1297 0.2352 0.1912 0.16 0.31 0.14 0.27 0.1816 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.456526 1.456526 NA 0.15593 0.220809 NA 0.196 NA 3.50347 1310 10 1142208 1142208 T C intronic WDR37 NA NA NA exonic ENSG00000047056 NA stoploss ENSG00000047056:ENST00000381329:exon9:c.T748C:p.X250R NA NA 10p15.3 NA NA NA NA rs10794716 0.99 0.99 0.994 0.98762 1 1 0.9942 0.9561 1 1 1 1 0.98 0.9971 1 . . . . . . . . 1.000 P . . . . . . . . . 0.455 6.472 -1.13 -0.518 0.022 0.942 0.455271 NA 0.62 0.999535 0.975034 NA 0.986 NA 3.503365 1310 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 1310 17 59924612 59924612 G C intronic BRIP1 NA NA NA intronic ENSG00000136492 NA NA NA NA NA 17q23.2 NA NA NA NA rs4988344 0.25 0.25 0.222 0.215655 0.1501 0.5625 0.1902 0.0703 0.1401 0.15 0.56 0.19 0.09 0.1899 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.159879 NA NA 0.157558 0.07399 ID=COSN165485;OCCURENCE=1(breast) 0.13 NA 3.502442 1310 12 130923089 130923089 C G intronic RIMBP2 NA NA NA intronic ENSG00000060709 NA NA NA NA NA 12q24.33 NA NA NA NA rs2292666 0.19 0.19 0.158 0.206869 0.1511 0.2252 0.2608 0.171 0.2556 0.14 0.21 0.27 0.19 0.2066 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.077127 NA NA 0.140014 0.18733 NA 0.152 NA 3.502286 1310 3 48658467 48658467 C A intronic TMEM89 NA NA NA intronic ENSG00000183396 NA NA NA NA NA 3p21.31 NA NA NA NA rs3895736 0.14 0.14 0.135 0.155351 0.171 0.0605 0.1311 0.1929 0.2035 0.17 0.08 0.12 0.19 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 -1.214933 NA NA 0.168953 0.197004 ID=COSM149383;OCCURENCE=1(stomach) 0.239 NA 3.502247 1310 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 1310 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=Pol2,TAF1,c-Myc,ZNF263 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 1310 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 1310 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 1310 5 10262740 10262740 C A intronic CCT5 NA NA NA intronic ENSG00000150753 NA NA NA NA NA 5p15.2 NA Name=Pol2(b),Pol2-4H8 Name=15 NA rs2578642 0.75 0.75 0.732 0.685903 0.8539 0.879 0.7752 0.388 0.6534 0.85 0.88 0.8 0.4 0.7894 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 -0.694593 NA NA 0.854884 0.452792 NA 0.681 NA 3.501816 1310 19 582253 582253 T C intronic BSG NA NA NA intronic ENSG00000172270 NA NA NA NA NA 19p13.3 NA Name=ZNF263 NA NA rs4919862 0.82 0.82 0.81 0.857029 0.7485 0.7808 0.7925 0.9841 0.9213 0.77 0.76 0.79 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 -0.071847 NA NA 0.750473 0.944284 NA 0.87 NA 3.501027 1310 16 57949251 57949251 G A intronic CNGB1 NA NA NA intronic ENSG00000070729 NA NA NA NA NA 16q21 NA NA NA NA rs483053 0.49 0.49 0.48 0.49401 0.4881 0.5635 0.4625 0.4501 0.5102 0.5 0.54 0.44 0.45 0.508 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.461912 NA NA 0.503019 0.440652 NA 0.326 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079629.1;CLNDSDB=.;CLNDSDBID=. 3.500881 1310 14 106805440 106805440 A G intergenic LINC00226,LINC00221 dist=60474;dist=133015 NA NA exonic ENSG00000231475 NA synonymous SNV ENSG00000231475:ENST00000438142:exon2:c.T123C:p.C41C NA NA 14q32.33 NA Name=KAP1 NA NA rs6576153 0.99 0.99 1 0.999401 1 0.999 1 0.9985 1 0.99 1 1 0.98 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.042785 NA NA NA NA NA 0.312 NA 3.5003 1310 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 1310 10 3155285 3155285 G A intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs3816698 0.15 0.15 0.134 0.123003 0.162 0.0536 0.1888 0.152 0.0685 0.17 0.06 0.2 0.17 0.1728 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23246 NA NA 0.165 0.152816 NA 0.087 NA 3.5002 1310 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 1310 6 30679628 30679628 T A intronic MDC1 NA NA NA ncRNA_intronic ENSG00000224328 NA NA NA NA Name=IgG glycosylation 6p21.33 NA NA Name=3 NA rs3094093 0.97 0.97 0.975 0.981629 0.9404 1 0.9553 0.9992 1 0.94 1 0.95 1 0.9584 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017053 NA NA 0.934453 0.983113 NA 0.978 NA 3.5000803 1310 1 100376456 100376456 T A intronic AGL NA NA NA intronic ENSG00000162688 NA NA NA NA NA 1p21.2 NA NA NA NA rs1541041 0.52 0.52 0.486 0.459864 0.5 0.5694 0.5663 0.3487 0.3804 0.51 0.59 0.56 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 0.032339 NA NA NA NA NA 0.493 NA 3.5 1310 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 1310 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 1310 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 1310 1 152759678 152759678 C T intronic LCE1E NA NA NA intronic ENSG00000186226 NA NA NA NA NA 1q21.3 NA NA NA NA rs1034109 0.54 0.54 0.547 0.536542 0.5 0.4087 0.5058 0.7648 0.4192 0.49 0.42 0.55 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 -0.027568 NA NA NA NA NA 0.572 NA 3.5 1310 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 1310 17 21205406 21205406 A G intronic MAP2K3 NA NA NA intronic ENSG00000034152 NA NA NA NA NA 17p11.2 NA NA NA NA rs72831582 0.5 0.5 0.38 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 0.004354 NA NA NA NA NA 0.435 NA 3.5 1310 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 1310 18 6873354 6873354 G A intronic ARHGAP28 NA NA NA intronic ENSG00000088756 NA NA NA NA NA 18p11.31 NA NA NA NA rs2282522 0.36 0.36 0.351 0.297923 0.5 0.249 0.2983 0.2042 0.2669 0.52 0.27 0.35 0.23 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 -0.134827 NA NA NA NA NA 0.246 NA 3.5 1310 19 7533767 7533767 T G exonic ARHGEF18 NA synonymous SNV ARHGEF18:NM_001130955:exon17:c.T2973G:p.R991R,ARHGEF18:NM_015318:exon18:c.T2499G:p.R833R exonic ENSG00000104880,ENSG00000268861 NA synonymous SNV ENSG00000104880:ENST00000359920:exon17:c.T2973G:p.R991R,ENSG00000104880:ENST00000319670:exon18:c.T2499G:p.R833R NA NA 19p13.2 NA NA NA NA rs10405143 0.78 0.78 0.778 0.790535 0.7256 0.8115 0.7435 0.8896 0.7352 0.72 0.81 0.7 0.9 0.7236 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 0.596217 NA NA 0.717508 0.873508 NA 0.804 NA 3.4999586 1310 17 54921494 54921494 A C exonic DGKE NA synonymous SNV DGKE:NM_003647:exon3:c.A579C:p.T193T exonic ENSG00000153933 NA synonymous SNV ENSG00000153933:ENST00000284061:exon3:c.A579C:p.T193T NA NA 17q22 NA NA NA NA rs3760158 0.74 0.74 0.719 0.698283 0.7087 0.9157 0.8012 0.5711 0.5624 0.7 0.92 0.75 0.62 0.7223 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 0.961417 NA NA 0.735801 0.621026 NA 0.717 NA 3.4998656 1310 12 51393116 51393116 C T intronic SLC11A2 NA NA NA intronic ENSG00000110911 NA NA NA NA NA 12q13.12 NA NA NA NA rs224454 0.19 0.19 0.186 0.21226 0.163 0.4573 0.1383 0.0484 0.2843 0.15 0.42 0.14 0.04 0.1824 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.01477 NA NA 0.154767 0.0665 NA 0.167 NA 3.499833 1310 17 60129875 60129875 C T intronic MED13 NA NA NA intronic ENSG00000108510 NA NA NA NA NA 17q23.2 NA NA NA NA rs4968467 0.25 0.25 0.218 0.217252 0.1501 0.5248 0.1988 0.1021 0.138 0.15 0.52 0.19 0.11 0.198 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000154 NA NA 0.152078 0.090584 ID=COSN165487;OCCURENCE=1(breast) 0.123 NA 3.499822 1310 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 1310 7 100802316 100802316 C T intronic AP1S1 NA NA NA intronic ENSG00000106367 NA NA NA NA NA 7q22.1 NA NA NA NA rs6954408 0.15 0.15 0.157 0.155751 0.172 0.1121 0.1484 0.1558 0.1892 0.17 0.11 0.16 0.15 0.1582 0.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02709 NA NA 0.170251 0.141892 NA 0.174 NA 3.499549 1310 12 12483275 12483275 G A exonic MANSC1 NA synonymous SNV MANSC1:NM_018050:exon4:c.C982T:p.L328L exonic ENSG00000111261 NA synonymous SNV ENSG00000111261:ENST00000545735:exon2:c.C739T:p.L247L,ENSG00000111261:ENST00000535902:exon4:c.C982T:p.L328L,ENSG00000111261:ENST00000396349:exon5:c.C880T:p.L294L NA NA 12p13.2 NA NA NA NA rs1861676 0.58 0.58 0.592 0.597244 0.7266 0.38 0.6628 0.5454 0.7117 0.73 0.36 0.67 0.53 0.6867 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 -0.171302 NA NA 0.754186 0.581026 ID=COSM147444;OCCURENCE=1(stomach) 0.71 NA 3.4991806 1310 11 18305333 18305333 T C intronic HPS5 NA NA NA intronic ENSG00000110756 NA NA NA NA NA 11p15.1 NA NA NA NA rs2049129 0.14 0.14 0.147 0.132188 0.173 0.002 0.1138 0.2716 0.0491 0.17 NA 0.14 0.26 0.1506 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.958846 2.958846 NA 0.177265 0.27899 ID=COSM1627903;OCCURENCE=1(liver) 0.188 NA 3.499135 1310 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 1310 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 1310 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 1310 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 1310 14 78197283 78197283 T C intronic SNW1 NA NA NA intronic ENSG00000100603,ENSG00000119705 NA NA NA NA NA 14q24.3 NA NA NA NA rs2111829 0.11 0.11 0.102 0.0916534 0.1988 0.0169 0.1009 0.0598 0.0951 0.2 0.02 0.11 0.07 0.1381 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.483956 NA NA 0.164651 0.084015 NA 0.174 NA 3.498449 1310 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 1310 1 172425529 172425529 C G intronic C1orf105 NA NA NA intronic ENSG00000180999 NA NA NA NA NA 1q24.3 NA Name=Pol2,GATA-1,Pol2(b) NA NA rs2285170 0.45 0.45 0.428 0.419129 0.5149 0.6567 0.4914 0.0363 0.5419 0.52 0.66 0.52 0.06 0.4924 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 0.591364 NA NA 0.494535 0.118248 NA 0.384 NA 3.498165 1310 5 179227286 179227286 G T intronic MGAT4B NA NA NA intronic ENSG00000161013 NA NA NA NA NA 5q35.3 NA NA NA NA rs166624 0.24 0.24 0.241 0.23742 0.159 0.2331 0.1787 0.4123 0.1278 0.15 0.28 0.17 0.41 0.1803 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.365145 NA NA 0.162791 0.372901 ID=COSN167668;OCCURENCE=2(large_intestine) 0.225 NA 3.497909 1310 12 12483713 12483713 A G exonic MANSC1 NA synonymous SNV MANSC1:NM_018050:exon4:c.T544C:p.L182L exonic ENSG00000111261 NA synonymous SNV ENSG00000111261:ENST00000545735:exon2:c.T301C:p.L101L,ENSG00000111261:ENST00000535902:exon4:c.T544C:p.L182L,ENSG00000111261:ENST00000396349:exon5:c.T442C:p.L148L NA NA 12p13.2 NA NA NA NA rs4763282 0.57 0.57 0.569 0.581869 0.7306 0.375 0.6614 0.4894 0.7106 0.74 0.36 0.67 0.47 0.6833 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 1.573947 1.573947 NA 0.755 0.524966 ID=COSM147446;OCCURENCE=1(stomach) 0.674 NA 3.4977666 1310 17 40318296 40318296 A G intronic KCNH4 NA NA NA intronic ENSG00000089558 NA NA NA NA NA 17q21.2 NA NA NA NA rs28459794 0.25 0.25 0.221 0.267173 0.1113 0.4038 0.1671 0.3419 0.2566 0.12 0.42 0.16 0.32 0.2681 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356702 NA NA 0.123546 0.312244 NA 0.232 NA 3.497054 1310 14 50600995 50600995 A T intronic SOS2 NA NA NA intronic ENSG00000100485 NA NA NA NA NA 14q21.3 NA NA NA NA rs28565912 0.23 0.23 0.214 0.248602 0.1451 0.4335 0.2435 0.2201 0.2065 0.14 0.42 0.2 0.19 0.2026 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.967493 NA NA 0.155333 0.198178 NA 0.13 NA 3.496967 1310 18 74692336 74692336 A G UTR3 MBP NM_001025092:c.*47T>C,NM_001025081:c.*47T>C,NM_001025090:c.*47T>C,NM_001025101:c.*47T>C,NM_002385:c.*47T>C NA NA ncRNA_UTR3 ENSG00000197971 NA NA NA NA NA 18q23 NA NA NA NA rs9199 0.31 0.31 0.281 0.306909 0.3509 0.3294 0.3372 0.1899 0.3753 0.35 0.34 0.34 0.19 0.3287 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.643899 1.643899 NA 0.323605 0.223786 NA 0.464 NA 3.496795 1310 16 2152651 2152651 T C intronic PKD1 NA NA NA intronic ENSG00000008710 NA NA NA NA NA 16p13.3 NA NA NA NA rs9928278 0.21 0.21 0.195 0.220647 0.164 NA 0.1758 0.5688 0.0675 0.16 NA 0.2 0.53 0.1646 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248449 NA NA 0.174655 0.481473 NA 0.138 NA 3.496745 1310 4 120423719 120423719 C T intronic PDE5A NA NA NA ncRNA_intronic ENSG00000245958 NA NA NA NA NA 4q26 NA NA NA NA rs3733523 0.3 0.3 0.29 0.269369 0.2843 0.3929 0.2824 0.2277 0.1738 0.29 0.4 0.25 0.23 0.2653 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.001141 3.001141 NA 0.287043 0.225601 NA 0.217 NA 3.4966903 1310 11 284538 284538 T C exonic NLRP6 NA synonymous SNV NLRP6:NM_001276700:exon7:c.T2433C:p.P811P,NLRP6:NM_138329:exon7:c.T2436C:p.P812P exonic ENSG00000174885 NA synonymous SNV ENSG00000174885:ENST00000312165:exon7:c.T2436C:p.P812P,ENSG00000174885:ENST00000534750:exon7:c.T2433C:p.P811P NA NA 11p15.5 NA NA NA NA rs6598047 0.59 0.59 0.571 0.547125 0.7674 0.3274 0.6239 0.5908 0.4335 0.77 0.32 0.66 0.58 0.6595 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 0.507729 NA NA 0.743256 0.651384 NA 0.623 NA 3.4965106 1310 12 51386548 51386548 A G intronic SLC11A2 NA NA NA intronic ENSG00000110911 NA NA NA NA NA 12q13.12 NA NA NA NA rs224568 0.2 0.2 0.192 0.219249 0.164 0.4563 0.1427 0.0726 0.2843 0.15 0.42 0.14 0.06 0.1848 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479107 NA NA 0.155 0.080799 NA 0.174 NA 3.4962 1310 6 131926334 131926334 C T intronic MED23 NA NA NA intronic ENSG00000112282 NA NA NA NA NA 6q23.2 NA NA NA NA rs2608953 0.18 0.18 0.144 0.178315 0.166 0.2956 0.2392 0.0363 0.2188 0.17 0.32 0.19 0.02 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 0.054688 NA NA 0.14814 0.060372 NA 0.087 NA 3.49616 1310 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 1310 1 15789176 15789176 C T intronic CELA2A NA NA NA intronic ENSG00000142615 NA NA NA NA NA 1p36.21 NA NA NA NA rs3815786 0.28 0.28 0.232 0.285942 0.2555 0.2391 0.2522 0.3631 0.2853 0.25 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 1.017237 NA NA 0.248368 0.325913 NA 0.232 NA 3.496132 1310 14 107170398 107170398 C T intergenic LINC00221,NONE dist=218869;dist=NONE NA NA UTR5 ENSG00000211973 ENST00000390633:c.-31G>A NA NA NA NA 14q32.33 NA Name=EBF1_(C-8),MEF2A,ZEB1_(SC-25388),NFKB,POU2F2,Pol2,Oct-2 Name=10 NA rs4448834 0.84 0.84 0.828 0.84405 0.7833 0.998 0.8458 0.7231 0.91 0.78 1 0.83 0.74 0.7973 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.387481 NA NA 0.756983 0.720997 NA 0.833 NA 3.4957504 1311 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 1311 3 155241740 155241740 A G exonic PLCH1 NA synonymous SNV PLCH1:NM_001130960:exon10:c.T1380C:p.S460S,PLCH1:NM_001130961:exon10:c.T1380C:p.S460S,PLCH1:NM_014996:exon10:c.T1326C:p.S442S exonic ENSG00000114805 NA synonymous SNV ENSG00000114805:ENST00000334686:exon10:c.T1326C:p.S442S,ENSG00000114805:ENST00000340059:exon10:c.T1380C:p.S460S,ENSG00000114805:ENST00000414191:exon10:c.T1326C:p.S442S,ENSG00000114805:ENST00000447496:exon10:c.T1380C:p.S460S,ENSG00000114805:ENST00000494598:exon10:c.T1380C:p.S460S,ENSG00000114805:ENST00000460012:exon11:c.T1326C:p.S442S NA NA 3q25.31 NA NA NA NA rs9840234 0.77 0.77 0.763 0.769768 0.6968 0.9256 0.7752 0.6899 0.7883 0.7 0.94 0.76 0.71 0.7457 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 1.081524 NA NA 0.729651 0.713118 NA 0.761 NA 3.4945156 1311 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 1311 11 71714528 71714528 T G UTR3 NUMA1 NM_006185:c.*45A>C NA NA UTR3 ENSG00000137496,ENSG00000137497 ENST00000497194:c.*1837T>G;ENST00000393695:c.*45A>C,ENST00000358965:c.*45A>C,ENST00000351960:c.*45A>C,ENST00000541584:c.*45A>C NA NA NA NA 11q13.4 Score=727;Name=V$SRF_01 Name=Pol2-4H8,USF-1,Pol2 NA NA rs949323 0.88 0.88 0.625 0.871006 0.9751 0.8601 0.8458 0.8162 0.8671 0.97 0.84 0.85 0.8 0.9297 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 0.790067 NA NA 0.934545 0.691364 NA NA NA 3.4939884 1311 2 48713729 48713729 T C intronic PPP1R21 NA NA NA intronic ENSG00000162869 NA NA NA NA NA 2p16.3 NA NA NA NA rs72822226 0.21 0.21 0.216 0.17492 0.1551 0.4643 0.0749 0.0666 0.1145 0.16 0.46 0.09 0.09 0.174 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.487395 NA NA 0.177066 0.079032 NA 0.159 NA 3.493834 1311 5 176517461 176517461 T G exonic FGFR4 NA synonymous SNV FGFR4:NM_022963:exon2:c.T162G:p.R54R,FGFR4:NM_002011:exon3:c.T162G:p.R54R,FGFR4:NM_213647:exon3:c.T162G:p.R54R exonic ENSG00000160867 NA synonymous SNV ENSG00000160867:ENST00000393637:exon2:c.T162G:p.R54R,ENSG00000160867:ENST00000292408:exon3:c.T162G:p.R54R,ENSG00000160867:ENST00000292410:exon3:c.T162G:p.R54R,ENSG00000160867:ENST00000393648:exon3:c.T162G:p.R54R,ENSG00000160867:ENST00000502906:exon3:c.T162G:p.R54R,ENSG00000160867:ENST00000503708:exon3:c.T162G:p.R54R,ENSG00000160867:ENST00000513166:exon3:c.T162G:p.R54R,ENSG00000160867:ENST00000514472:exon3:c.T162G:p.R54R,ENSG00000160867:ENST00000510911:exon4:c.T162G:p.R54R NA NA 5q35.2 NA NA NA NA rs446382 0.77 0.77 0.712 0.775958 0.6899 0.9772 0.8084 0.5756 0.9049 0.68 0.98 0.8 0.62 0.7647 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 -0.582373 NA NA 0.718408 0.614616 NA 0.826 NA 3.4936586 1311 6 28503705 28503705 G A downstream GPX5 NA NA NA downstream ENSG00000224586 NA NA NA NA NA 6p22.1 NA NA NA NA rs72850077 0.05 0.05 0.053 0.0501198 0.0596 0.005 0.0461 0.0998 0.0225 0.06 0.01 0.04 0.1 0.0521 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 -0.929383 NA NA 0.061778 0.082763 NA 0.058 NA 3.4931886 1311 1 19981451 19981451 A G intronic C1orf151-NBL1,NBL1 NA NA NA intronic ENSG00000158747,ENSG00000270136 NA NA NA NA NA 1p36.13 NA NA NA NA rs3828101 0.44 0.44 0.426 0.432907 0.507 0.1677 0.4741 0.6172 0.3517 0.53 0.15 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 1.057854 NA NA NA NA NA 0.457 NA 3.493 1311 20 4202802 4202802 A G intronic ADRA1D NA NA NA intronic ENSG00000171873 NA NA NA NA NA 20p13 NA Name=ZBTB7A_(SC-34508) Name=2 NA rs835873 0.84 0.84 0.867 0.834265 0.833 0.9921 0.755 0.7315 0.8681 0.83 0.99 0.76 0.76 0.8255 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 0.693632 NA NA 0.848528 0.767192 NA 0.819 NA 3.492972 1311 9 115968862 115968862 T C intronic FKBP15 NA NA NA intronic ENSG00000119321 NA NA NA NA NA 9q32 NA NA NA NA rs45623732 0.1 0.1 0.093 0.086861 0.1779 0.0546 0.085 0.0212 0.1166 0.19 0.07 0.11 0.02 0.1532 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 0.315902 NA NA 0.176034 0.037756 NA 0.13 NA 3.492866 1311 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 1311 10 123600590 123600590 A G intronic ATE1 NA NA NA intronic ENSG00000107669 NA NA NA NA NA 10q26.13 NA NA NA NA rs10886994 0.13 0.13 0.119 0.116014 0.167 0.1815 0.1369 0.0401 0.0838 0.16 0.18 0.14 0.03 0.1648 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.826589 NA NA 0.175814 0.051748 NA 0.029 NA 3.492386 1311 17 27244473 27244473 G A intronic PHF12 NA NA NA intronic ENSG00000109118 NA NA NA NA NA 17q11.2 NA NA NA NA rs8066347 0.12 0.12 0.11 0.157548 0.167 0.0714 0.2046 0.0832 0.3037 0.17 0.07 0.18 0.07 0.1712 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.085018 3.085018 NA 0.169884 0.115978 NA 0.196 NA 3.491916 1311 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 1311 8 27373923 27373923 T C intronic EPHX2 NA NA NA intronic ENSG00000120915 NA NA NA NA NA 8p21.2 NA NA NA NA rs4149243 0.27 0.27 0.28 0.299321 0.1501 0.1567 0.1585 0.6581 0.2147 0.15 0.15 0.16 0.66 0.1916 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 -0.098065 NA NA 0.167093 0.565365 NA 0.435 NA 3.491207 1311 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 1311 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 1311 22 19906306 19906306 C G intronic TXNRD2 NA NA NA intronic ENSG00000184470 NA NA NA NA NA 22q11.21 NA NA NA NA rs3747067 0.69 0.69 0.692 0.697484 0.5089 0.8968 0.6643 0.7405 0.6513 0.51 0.91 0.62 0.76 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 -0.601651 NA NA NA NA NA 0.623 NA 3.4911 1311 17 1582205 1582205 G A intronic PRPF8 NA NA NA intronic ENSG00000174231 NA NA NA NA NA 17p13.3 NA NA NA NA rs9902534 0.23 0.23 0.256 0.248802 0.1501 0.0962 0.1254 0.593 0.1299 0.16 0.07 0.12 0.59 0.1854 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.900765 NA NA 0.173488 0.499319 NA 0.254 NA 3.491012 1311 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 1311 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 1311 13 48523567 48523567 T C intronic SUCLA2 NA NA NA intronic ENSG00000136143 NA NA NA NA NA 13q14.2 NA NA NA NA rs17425881 0.2 0.2 0.21 0.189097 0.167 0.2312 0.1138 0.261 0.1247 0.16 0.22 0.13 0.27 0.1647 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.110397 NA NA 0.177558 0.236496 NA 0.312 NA 3.490742 1311 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 1311 2 219103580 219103580 A G intronic ARPC2 NA NA NA intronic ENSG00000163466 NA NA NA Score=734;Name=lod=1278 NA 2q35 NA NA NA NA rs10169718 0.44 0.44 0.428 0.426717 0.5199 0.5754 0.4654 0.0953 0.5982 0.53 0.6 0.47 0.11 0.4969 0.6 NA NA 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 0.492791 0.168634 NA 0.37 NA 3.490409 1311 1 151144057 151144057 C T intronic TMOD4 NA NA NA intronic ENSG00000163157 NA NA NA NA NA 1q21.3 NA NA NA NA rs28730723 0.11 0.11 0.11 0.109625 0.1849 0.1081 0.085 0.0023 0.1963 0.2 0.09 0.09 0.002 0.1507 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08572 NA NA 0.17407 0.034725 ID=COSN163233;OCCURENCE=1(breast) 0.138 NA 3.49033 1311 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 1311 2 160688351 160688351 C T intronic LY75,LY75-CD302 NA NA NA intronic ENSG00000054219,ENSG00000248672 NA NA NA NA NA 2q24.2 NA NA NA NA rs6755783 0.39 0.39 0.367 0.347644 0.5099 0.494 0.3055 0.1331 0.3497 0.5 0.47 0.33 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 0.251485 NA NA NA NA NA 0.428 NA 3.4901 1311 16 4245693 4245693 A G exonic SRL NA synonymous SNV SRL:NM_001098814:exon5:c.T471C:p.R157R exonic ENSG00000185739 NA synonymous SNV ENSG00000185739:ENST00000399609:exon5:c.T471C:p.R157R,ENSG00000185739:ENST00000537996:exon5:c.T345C:p.R115R NA NA 16p13.3 NA NA NA NA rs10852643 0.77 0.77 0.803 0.813299 0.7286 0.755 0.7147 0.9652 0.8252 0.73 0.72 0.7 0.94 0.7392 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 0.834481 NA NA 0.709375 0.923038 NA 0.63 NA 3.4894916 1311 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 1311 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 1311 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 1311 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 1311 19 7743975 7743975 C A intronic C19orf59 NA NA NA intronic ENSG00000183019,ENSG00000269711 NA NA NA NA NA 19p13.2 NA NA NA NA rs11882592 0.15 0.15 0.12 0.142173 0.171 0.1012 0.317 0.1112 0.0726 0.15 0.1 0.28 0.11 0.1798 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.688279 NA NA 0.161163 0.118929 NA 0.123 NA 3.488037 1311 17 4391201 4391201 A G UTR3 SPNS3 NM_182538:c.*12A>G NA NA UTR3 ENSG00000182557 ENST00000355530:c.*12A>G,ENST00000333476:c.*12A>G,ENST00000575194:c.*805A>G NA NA NA NA 17p13.2 NA NA NA NA rs2291742 0.17 0.17 0.151 0.154752 0.3171 0.0437 0.17 0.0567 0.2239 0.32 0.03 0.21 0.06 0.2346 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.791617 NA NA 0.293605 0.087835 NA 0.21 NA 3.4880284 1311 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 1311 12 9885526 9885526 C T intronic CLECL1 NA NA NA intronic ENSG00000184293 NA NA NA NA NA 12p13.31 NA Name=NFKB,Pol2 NA NA rs12304510 0.5 0.5 0.514 0.528954 0.496 0.38 0.4452 0.6899 0.5583 0.5 0.35 0.51 0.65 0.5063 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.054554 NA NA 0.510233 0.644803 NA 0.594 NA 3.487467 1311 15 27184482 27184482 C T intronic GABRA5 NA NA NA exonic ENSG00000166206 NA synonymous SNV ENSG00000166206:ENST00000541819:exon1:c.G102A:p.A34A NA NA 15q12 NA NA NA NA rs34560927 0.35 0.35 0.359 0.33726 0.4573 0.3442 0.4683 0.1362 0.3855 0.46 0.33 0.42 0.13 0.4241 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.671298 NA 0.02 0.465093 0.17637 NA 0.304 NA 3.4868403 1311 22 50599111 50599111 T C intronic MOV10L1 NA NA NA intronic ENSG00000073146 NA NA NA NA NA 22q13.33 NA NA NA NA rs2272841 0.16 0.16 0.129 0.148762 0.1849 0.2431 0.1153 0.0227 0.2086 0.19 0.22 0.17 0.03 0.1613 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142633 NA NA 0.167442 0.042669 NA 0.159 NA 3.486358 1311 17 45822092 45822092 C T intronic TBX21 NA NA NA intronic ENSG00000073861 NA NA NA NA NA 17q21.32 NA NA NA NA rs11650354 0.12 0.12 0.106 0.130591 0.1789 0.0446 0.1427 0.0976 0.2055 0.18 0.05 0.15 0.11 0.1591 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.106451 NA NA 0.175814 0.114389 NA 0.138 NA 3.486186 1311 22 23503008 23503008 T C intronic RAB36 NA NA NA intronic ENSG00000100228 NA NA NA NA NA 22q11.23 NA NA NA NA rs9612253 0.54 0.54 0.562 0.555711 0.5139 0.6429 0.4669 0.5272 0.6104 0.51 0.63 0.5 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 -0.115655 NA NA NA NA NA 0.623 NA 3.4861 1311 19 3157887 3157887 A G intronic GNA15 NA NA NA intronic ENSG00000060558 NA NA NA NA NA 19p13.3 NA NA NA NA rs72983041 0.14 0.14 0.134 0.136382 0.1899 0.0079 0.1009 0.2337 0.1074 0.19 0.01 0.11 0.25 0.1508 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.522888 NA NA 0.174186 0.198139 NA NA NA 3.485114 1312 3 121100414 121100414 A G intronic STXBP5L NA NA NA intronic ENSG00000145087 NA NA NA NA NA 3q13.33 NA NA NA NA rs17740072 0.11 0.11 0.095 0.0966454 0.1928 0.004 0.1254 0.1029 0.0644 0.18 0.0017 0.15 0.09 0.1411 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.717063 NA NA 0.181239 0.110685 NA 0.167 NA 3.484861 1312 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 1312 11 71714526 71714526 G C UTR3 NUMA1 NM_006185:c.*47C>G NA NA UTR3 ENSG00000137496,ENSG00000137497 ENST00000497194:c.*1835G>C;ENST00000393695:c.*47C>G,ENST00000358965:c.*47C>G,ENST00000351960:c.*47C>G,ENST00000541584:c.*47C>G NA NA NA NA 11q13.4 Score=727;Name=V$SRF_01 Name=Pol2,USF-1,Pol2-4H8 NA NA rs949324 0.8 0.8 0.623 0.871206 0.9751 0.8611 0.8458 0.8162 0.8671 0.86 0.77 0.8 0.73 0.9296 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 1.12912 NA NA 0.943979 0.698182 NA NA NA 3.4846544 1312 19 3157916 3157916 C T intronic GNA15 NA NA NA intronic ENSG00000060558 NA NA NA NA NA 19p13.3 NA NA NA NA rs66509881 0.14 0.14 0.138 0.134784 0.1899 0.0079 0.1009 0.2277 0.1074 0.19 0.01 0.11 0.24 0.151 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.739568 NA NA 0.174884 0.193373 NA 0.109 NA 3.484216 1312 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 1312 16 2903081 2903081 G A UTR3 PRSS22 NM_022119:c.*13C>T NA NA UTR3 ENSG00000005001 ENST00000161006:c.*13C>T,ENST00000571228:c.*13C>T NA NA NA NA 16p13.3 NA NA Name=3 NA rs3743944 0.53 0.53 0.533 0.517971 0.5915 0.504 0.4438 0.5174 0.5102 0.59 0.49 0.43 0.55 0.603 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 0.40024 NA NA 0.655305 0.587011 NA 0.051 NA 3.4835284 1312 16 68288983 68288983 T G intronic PLA2G15 NA NA NA intronic ENSG00000103066 NA NA NA NA NA 16q22.1 NA NA NA NA rs2290700 0.2 0.2 0.177 0.207468 0.162 0.1022 0.2003 0.3298 0.2025 0.16 0.12 0.2 0.32 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 0.812422 NA NA 0.163953 0.279117 NA 0.304 NA 3.483347 1312 6 52144081 52144081 T C intronic MCM3 NA NA NA intronic ENSG00000112118 NA NA NA NA NA 6p12.2 NA NA NA NA rs2073036 0.32 0.32 0.317 0.314297 0.5169 0.2421 0.3012 0.09 0.4928 0.53 0.24 0.35 0.07 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 -0.894499 NA NA NA NA NA 0.319 NA 3.4831 1312 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 1312 11 129753945 129753945 G A intronic NFRKB NA NA NA intronic ENSG00000170322 NA NA NA NA NA 11q24.3 NA NA NA NA rs56112470 0.13 0.13 0.133 0.170327 0.1859 0.0565 0.1124 0.1778 0.3027 0.18 0.05 0.14 0.14 0.1708 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473446 NA NA 0.16081 0.177419 NA 0.21 NA 3.48249 1312 2 202580370 202580370 G A intronic ALS2 NA NA NA intronic ENSG00000003393 NA NA NA NA NA 2q33.1 NA Name=CTCF,c-Myc,Rad21 Name=11 NA rs3219167 0.81 0.81 0.804 0.804113 0.8509 0.7361 0.8516 0.7723 0.8354 0.85 0.76 0.83 0.8 0.8305 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 -0.013011 NA NA 0.836163 0.786653 NA 0.87 NA 3.482437 1312 19 54876324 54876324 T C intronic LAIR1 NA NA NA intronic ENSG00000167613 NA NA NA NA NA 19q13.42 NA NA NA NA rs3745441 0.47 0.47 0.413 0.458866 0.5179 0.505 0.4092 0.4584 0.3865 0.51 0.47 0.43 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 0.044425 NA NA NA NA NA 0.543 NA 3.4821 1312 13 111134858 111134858 T C intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA NA NA rs3803228 0.18 0.18 0.155 0.190895 0.164 0.1845 0.1398 0.2352 0.2014 0.17 0.19 0.16 0.21 0.1752 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.499055 1.499055 NA 0.178746 0.221382 NA 0.196 NA 3.482054 1312 4 178274694 178274694 T G exonic NEIL3 NA synonymous SNV NEIL3:NM_018248:exon8:c.T1272G:p.V424V exonic ENSG00000109674 NA synonymous SNV ENSG00000109674:ENST00000264596:exon8:c.T1272G:p.V424V NA NA 4q34.3 NA NA NA NA rs10007075 0.57 0.57 0.542 0.542532 0.7644 0.376 0.6138 0.4395 0.5746 0.76 0.38 0.69 0.4 0.6661 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 -1.495925 NA NA 0.754186 0.501362 NA 0.594 NA 3.4819806 1312 2 108863767 108863767 A C exonic SULT1C3 NA synonymous SNV SULT1C3:NM_001008743:exon1:c.A117C:p.V39V exonic ENSG00000196228 NA synonymous SNV ENSG00000196228:ENST00000329106:exon1:c.A117C:p.V39V,ENSG00000196228:ENST00000376700:exon1:c.A117C:p.V39V NA NA 2q12.3 NA NA NA NA rs9308806 0.84 0.84 0.842 0.846645 0.7137 0.8998 0.7882 0.9909 0.7751 0.72 0.91 0.78 0.99 0.7716 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 -1.309131 NA NA 0.699419 0.94394 NA 0.79 NA 3.4819476 1312 5 54439513 54439513 A C intronic CDC20B NA NA NA intronic ENSG00000164287 NA NA NA NA NA 5q11.2 NA NA NA NA rs191396 0.14 0.14 0.111 0.154153 0.1869 0.1865 0.1311 0.0371 0.2618 0.19 0.16 0.14 0.04 0.1752 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 -0.364572 NA NA 0.156083 0.054066 ID=COSN167469;OCCURENCE=1(large_intestine) 0.087 NA 3.481817 1312 3 108557820 108557820 T C intronic TRAT1 NA NA NA intronic ENSG00000163519 NA NA NA Score=349;Name=lod=35 NA 3q13.13 NA NA NA NA rs7651205 0.51 0.51 0.457 0.490615 0.5 0.8839 0.513 0.09 0.6012 0.51 0.88 0.49 0.11 0.5256 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 1.330701 1.330701 NA 0.492907 0.16069 NA 0.42 NA 3.481493 1312 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 1312 5 137664241 137664241 A G intronic CDC25C NA NA NA intronic ENSG00000158402 NA NA NA NA NA 5q31.2 NA NA NA NA rs11567968 0.11 0.11 0.107 0.13099 0.1759 0.0169 0.1066 0.0817 0.2863 0.19 0.01 0.11 0.1 0.162 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 1.007699 NA NA 0.181047 0.092828 NA 0.203 NA 3.481053 1312 22 50572406 50572406 A G intronic MOV10L1 NA NA NA intronic ENSG00000073146 NA NA NA NA NA 22q13.33 NA NA NA NA rs3736686 0.16 0.16 0.15 0.153355 0.1859 0.2371 0.1182 0.0386 0.2137 0.19 0.22 0.17 0.05 0.1648 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.013225 NA NA 0.168488 0.051521 NA 0.152 NA 3.480812 1312 22 41660645 41660645 G A intronic RANGAP1 NA NA NA intronic ENSG00000100401 NA NA NA NA NA 22q13.2 NA NA NA NA rs2235851 0.13 0.13 0.116 0.126398 0.174 0.1746 0.0922 0.0272 0.1861 0.17 0.19 0.09 0.03 0.1695 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 -1.122144 NA NA 0.175698 0.057876 NA 0.043 NA 3.480802 1312 6 167717659 167717659 C T intronic UNC93A NA NA NA intronic ENSG00000112494 NA NA NA NA NA 6q27 NA NA NA NA rs2072765 0.16 0.16 0.132 0.16254 0.159 0.2351 0.2104 0.0197 0.2505 0.16 0.24 0.22 0.02 0.178 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.863898 NA NA 0.182674 0.049024 NA 0.21 NA 3.480326 1312 3 133343047 133343047 T C intronic TOPBP1 NA NA NA intronic ENSG00000163781 NA NA NA NA NA 3q22.1 NA NA NA NA rs11719585 0.11 0.11 0.092 0.0816693 0.1829 0.001 0.1225 0.0681 0.0501 0.18 0.0017 0.15 0.07 0.1408 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311585 NA NA 0.196258 0.074439 NA 0.08 NA 3.480042 1312 11 6646108 6646108 T C intronic DCHS1 NA NA NA intronic ENSG00000166341 NA NA NA NA NA 11p15.4 NA NA NA NA rs10458926 0.21 0.21 0.192 0.197883 0.162 0.3522 0.1916 0.1135 0.1943 0.16 0.36 0.19 0.11 0.1891 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.392082 NA NA 0.168878 0.128805 NA 0.246 NA 3.480022 1312 8 139819949 139819949 T C intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs58366541 0.22 0.22 0.228 0.238818 0.2614 0.0873 0.2478 0.2602 0.3364 0.26 0.11 0.24 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 -0.953427 NA NA 0.258642 0.268064 NA 0.232 NA 3.479958 1312 1 1120307 1120307 G A intronic TTLL10 NA NA NA intronic ENSG00000162571 NA NA NA NA NA 1p36.33 NA NA NA NA rs7539911 0.3 0.3 NA 0.316294 0.1809 0.5645 0.4049 0.1112 0.4141 0.19 0.61 0.3 0.12 0.3392 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.12246 NA NA NA NA NA 0.043 NA 3.4799 1312 17 48267291 48267291 G C intronic COL1A1 NA NA NA intronic ENSG00000108821 NA NA NA NA NA 17q21.33 NA Name=Pol2 NA NA rs2075559 0.53 0.53 0.509 0.541334 0.4811 0.495 0.6124 0.5605 0.5746 0.48 0.51 0.65 0.56 0.5261 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.904069 1.904069 NA 0.51291 0.548343 NA 0.457 NA 3.47989 1312 2 15758293 15758293 T C intronic DDX1 NA NA NA intronic ENSG00000079785 NA NA NA NA NA 2p24.3 NA NA NA NA rs3770466 0.25 0.25 0.259 0.293331 0.1541 0.1944 0.2219 0.5068 0.3006 0.15 0.2 0.19 0.52 0.2079 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538345 NA NA 0.158134 0.405356 NA 0.275 NA 3.479866 1312 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 1312 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=PAX5-C20,Sin3Ak-20,c-Myc,Oct-2,SP1,YY1_(C-20),ZNF263,c-Fos,YY1,PU.1,Pol2(b),TBP,POU2F2,TAF7_(SQ-8),CHD2_(N-1250),Pol2,HEY1,NF-YA,Pol2-4H8,GABP,RFX5_(N-494),TAF1,NFKB 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 1312 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 1312 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 1312 19 10449665 10449665 C T intronic ICAM3 NA NA NA UTR5 ENSG00000076662 ENST00000589261:c.-196G>A,ENST00000589580:c.-196G>A NA NA NA NA 19p13.2 NA NA NA NA rs3176768 0.17 0.17 0.15 0.179313 0.2356 0.1141 0.1744 0.1392 0.2464 0.24 0.12 0.19 0.12 0.2233 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.788718 NA NA 0.228425 0.167953 NA 0.326 NA 3.4793417 1312 2 101541798 101541798 C T intronic NPAS2 NA NA NA intronic ENSG00000170485 NA NA NA NA NA 2q11.2 NA Name=Max,Pol2(b),GATA-2 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 1312 8 11400680 11400680 G A intronic BLK NA NA NA intronic ENSG00000136573 NA NA NA NA NA 8p23.1 NA NA NA NA rs2245250 0.32 0.32 0.321 0.299321 0.5209 0.004 0.3545 0.3389 0.2832 0.51 0.0035 0.4 0.32 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 0.268996 NA NA NA NA NA 0.391 NA 3.4791 1312 X 30715827 30715827 C T intronic GK NA NA NA intronic ENSG00000198814 NA NA NA NA NA Xp21.2 Score=734;Name=V$NRSF_01 NA NA NA rs2035432 0.77 0.77 0.78458 NA NA NA NA NA NA 0.77 0.78 0.72 0.79 0.769 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 -0.615612 NA NA 0.751932 0.762066 NA 0.587 NA 3.479068 1312 2 160691978 160691978 G A intronic LY75,LY75-CD302 NA NA NA intronic ENSG00000054219,ENSG00000248672 NA NA NA NA NA 2q24.2 NA NA NA NA rs2303548 0.15 0.15 0.13 0.138379 0.165 0.2718 0.1383 0.0076 0.1503 0.16 0.27 0.1 0.01 0.1876 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.321117 1.321117 NA 0.168372 0.034952 NA 0.072 NA 3.479028 1312 19 10472933 10472933 A G intronic TYK2 NA NA NA intronic ENSG00000105397 NA NA NA NA Name=Psoriasis 19p13.2 NA NA NA NA rs280519 0.53 0.53 0.509 0.533147 0.505 0.6062 0.3415 0.5749 0.5665 0.5 0.56 0.41 0.62 0.5082 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.603805 NA NA 0.508023 0.562415 NA 0.37 NA 3.478777 1312 4 41640878 41640878 C T intronic LIMCH1 NA NA NA intronic ENSG00000064042 NA NA NA NA NA 4p13 NA NA NA NA rs6836918 0.21 0.21 0.225 0.230831 0.2644 0.0298 0.1614 0.3101 0.3456 0.28 0.03 0.16 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 0.489968 NA NA 0.257385 0.299133 NA 0.159 NA 3.478215 1312 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=SP1,IRF1,Pol2-4H8,Oct-2,AP-2alpha,c-Myc,EBF1_(C-8),AP-2gamma,CCNT2,Pol2(phosphoS2),TBP,Pol2(b),TAF1,RFX5_(N-494),HMGN3,Pol2,E2F6_(H-50),POU2F2,MEF2C_(SC-13268),STAT2,GTF2F1_(RAP-74),STAT1,ELF1_(SC-631),Sin3Ak-20,HEY1 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 1312 9 124088768 124088768 T C intronic GSN NA NA NA intronic ENSG00000148180 NA NA NA NA NA 9q33.2 NA Name=AP-2gamma,AP-2alpha,Pol2,STAT1 Name=103 NA rs306769 0.89 0.89 0.894 0.905351 0.833 0.994 0.8732 0.8933 0.9274 0.83 1 0.87 0.89 0.8689 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.484653 NA NA 0.820116 0.867453 NA 0.855 NA 3.477984 1312 15 42115426 42115426 A G intronic MAPKBP1 NA NA NA intronic ENSG00000137802 NA NA NA Score=352;Name=lod=36 NA 15q15.1 NA Name=c-Myc,CTCF NA NA rs1197688 0.73 0.73 0.747 0.771166 0.8698 0.3224 0.8127 0.9531 0.8569 0.86 0.31 0.81 0.96 0.8045 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 0.219475 NA NA 0.847791 0.931684 NA 0.797 NA 3.477909 1312 16 84035919 84035919 T C intronic NECAB2 NA NA NA intronic ENSG00000103154 NA NA NA NA NA 16q23.3 NA NA NA NA rs5012585 0.3 0.3 0.323 0.350439 0.1412 0.1964 0.2478 0.7428 0.2669 0.14 0.19 0.25 0.7 0.2208 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 -0.734342 NA NA 0.160233 0.674773 ID=COSM148126;OCCURENCE=1(stomach) 0.464 NA 3.477767 1312 11 46396479 46396479 T C intronic DGKZ NA NA NA intronic ENSG00000149091 NA NA NA NA NA 11p11.2 NA NA NA NA rs2046768 0.2 0.2 0.208 0.211262 0.172 0.0585 0.1066 0.4607 0.1462 0.17 0.07 0.12 0.48 0.1723 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.276205 NA NA 0.177948 0.390554 NA 0.196 NA 3.477752 1312 10 29839864 29839864 A C exonic SVIL NA synonymous SNV SVIL:NM_021738:exon6:c.T489G:p.A163A,SVIL:NM_003174:exon8:c.T489G:p.A163A exonic ENSG00000197321 NA synonymous SNV ENSG00000197321:ENST00000355867:exon6:c.T489G:p.A163A,ENSG00000197321:ENST00000375398:exon8:c.T489G:p.A163A,ENSG00000197321:ENST00000375400:exon8:c.T489G:p.A163A NA NA 10p11.23 NA NA NA NA rs1270874 0.74 0.74 0.729 0.727835 0.7286 0.8224 0.7075 0.6324 0.773 0.74 0.83 0.72 0.64 0.736 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 -0.605872 NA NA 0.724419 0.663414 NA 0.717 NA 3.4776476 1312 17 17045861 17045861 C T intronic MPRIP NA NA NA intronic ENSG00000133030 NA NA NA NA NA 17p11.2 NA NA NA NA rs3744138 0.47 0.47 0.445 0.444688 0.5229 0.7113 0.4986 0.0749 0.5511 0.55 0.69 0.48 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 -0.605984 NA NA NA NA NA 0.29 NA 3.4771 1312 3 133368199 133368199 C T intronic TOPBP1 NA NA NA intronic ENSG00000163781 NA NA NA NA NA 3q22.1 NA NA NA NA rs10512909 0.1 0.1 0.092 0.0810703 0.1829 0.001 0.121 0.0681 0.0481 0.18 0.0017 0.14 0.07 0.1452 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.378939 NA NA 0.195333 0.075524 NA 0.08 NA 3.476567 1312 11 107197606 107197606 G C UTR3 CWF19L2 NM_152434:c.*30C>G NA NA UTR3 ENSG00000152404 ENST00000282251:c.*30C>G,ENST00000431778:c.*563C>G,ENST00000532251:c.*638C>G NA NA NA NA 11q22.3 NA NA NA NA rs630693 0.32 0.32 0.335 0.280351 0.2982 0.2937 0.2666 0.3926 0.1063 0.29 0.31 0.27 0.42 0.2752 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600206 NA NA 0.283388 0.375284 NA 0.312 NA 3.4765454 1312 19 54240088 54240088 G A upstream MIR516B1 NA NA NA upstream ENSG00000207946 NA NA NA NA NA 19q13.42 NA NA NA NA rs77959394 0.09 0.09 0.088 0.0874601 0.0716 0.125 0.0432 0.1059 0.0716 0.07 0.12 0.05 0.09 0.0622 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 -0.880474 NA NA 0.056393 0.102679 NA 0.022 NA 3.4764736 1312 17 39593620 39593620 T C UTR3 KRT38 NM_006771:c.*44A>G NA NA UTR3 ENSG00000171360 ENST00000246646:c.*44A>G NA NA NA NA 17q21.2 NA NA NA NA rs9894044 0.2 0.2 0.176 0.21905 0.2833 0.0843 0.2161 0.1498 0.3875 0.27 0.09 0.27 0.16 0.27 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332366 NA NA 0.303837 0.166137 NA 0.239 NA 3.4761964 1312 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 1312 3 133335977 133335977 G C intronic TOPBP1 NA NA NA intronic ENSG00000163781 NA NA NA NA NA 3q22.1 NA NA NA NA rs11707750 0.1 0.1 0.079 0.076877 0.1839 0.001 0.121 0.0499 0.0501 0.18 0.0017 0.14 0.06 0.1446 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.253672 NA NA 0.195419 0.061695 NA 0.08 NA 3.476081 1312 13 101944752 101944752 C T intronic NALCN NA NA NA intronic ENSG00000102452 NA NA NA NA NA 13q33.1 NA NA Name=12 NA rs570252 0.57 0.57 0.586 0.585863 0.502 0.619 0.5548 0.6324 0.5971 0.51 0.64 0.54 0.62 0.5257 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321745 NA NA 0.496628 0.605084 NA 0.623 NA 3.475672 1312 4 9909850 9909850 T G intronic SLC2A9 NA NA NA intronic ENSG00000109667 NA NA NA NA NA 4p16.1 NA NA NA NA rs2280204 0.21 0.21 0.203 0.215056 0.1998 0.1458 0.1974 0.3843 0.0859 0.19 0.13 0.18 0.36 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 -0.386631 NA NA 0.150349 0.348842 NA 0.21 NA 3.475651 1312 14 55218161 55218161 A C intronic SAMD4A NA NA NA intronic ENSG00000020577 NA NA NA NA NA 14q22.2 Score=854;Name=V$E4BP4_01 NA NA NA rs2295820 0.36 0.36 0.335 0.334065 0.5437 0.3075 0.3631 0.1467 0.3783 0.55 0.3 0.36 0.15 0.4352 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.442857 NA NA 0.545465 0.222424 NA 0.225 NA 3.475635 1312 9 136213521 136213521 T C UTR5 MED22 NM_181491:c.-4A>G,NM_133640:c.-4A>G NA NA UTR5 ENSG00000148297 ENST00000491289:c.-4A>G,ENST00000344469:c.-4A>G,ENST00000343730:c.-4A>G,ENST00000486395:c.-4A>G,ENST00000476080:c.-4A>G,ENST00000371999:c.-4A>G,ENST00000446777:c.-4A>G,ENST00000494177:c.-4A>G,ENST00000457204:c.-4A>G NA NA NA NA 9q34.2 Score=755;Name=V$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 1312 2 176844644 176844644 C T intronic KIAA1715 NA NA NA intronic ENSG00000144320 NA NA NA NA NA 2q31.1 NA NA NA NA rs12373766 0.09 0.09 0.095 0.0640974 0.1889 NA 0.0951 0.0265 0.0307 0.19 NA 0.12 0.03 0.1357 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.479094 NA NA 0.200047 0.051086 NA 0.109 NA 3.475353 1312 17 39646021 39646021 A G exonic KRT36 NA synonymous SNV KRT36:NM_003771:exon1:c.T96C:p.R32R exonic ENSG00000126337 NA synonymous SNV ENSG00000126337:ENST00000328119:exon1:c.T96C:p.R32R NA NA 17q21.2 NA NA NA NA rs1003842 0.73 0.73 0.717 0.767572 0.7127 0.7361 0.7248 0.7693 0.8845 0.72 0.72 0.77 0.75 0.7519 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 -1.060965 NA NA 0.72686 0.739446 NA 0.725 NA 3.4752066 1312 1 66732386 66732386 G A intronic PDE4B NA NA NA intronic ENSG00000184588 NA NA NA NA NA 1p31.3 NA NA Name=79 NA rs6588194 0.33 0.33 0.312 0.274361 0.5437 0.1637 0.2767 0.1407 0.2904 0.55 0.15 0.32 0.18 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 0.357706 NA NA 0.521346 0.188927 NA 0.348 NA 3.475054 1312 16 55883618 55883618 T C exonic CES5A NA synonymous SNV CES5A:NM_001143685:exon11:c.A1341G:p.P447P,CES5A:NM_001190158:exon12:c.A1428G:p.P476P exonic ENSG00000159398 NA synonymous SNV ENSG00000159398:ENST00000290567:exon11:c.A1341G:p.P447P,ENSG00000159398:ENST00000518005:exon11:c.A1023G:p.P341P,ENSG00000159398:ENST00000520435:exon11:c.A1251G:p.P417P,ENSG00000159398:ENST00000521992:exon12:c.A1428G:p.P476P NA NA 16q12.2 NA NA NA NA rs2160276 0.74 0.74 0.71 0.688698 0.7455 0.7768 0.7839 0.5968 0.5961 0.74 0.78 0.77 0.66 0.7193 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 0.108964 NA NA 0.726829 0.629783 NA 0.688 NA 3.4750376 1313 5 31511106 31511106 G T intronic DROSHA NA NA NA intronic ENSG00000113360 NA NA NA NA NA 5p13.3 NA NA NA NA rs13183642 0.25 0.25 0.24 NA NA NA NA NA NA 0.28 0.35 0.25 0.09 0.2671 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.318638 NA NA 0.257972 0.120984 NA 0.268 NA 3.474928 1313 9 2645109 2645109 G A intronic VLDLR NA NA NA intronic ENSG00000147852 NA NA NA NA NA 9p24.2 NA NA NA NA rs11793899 0.1 0.1 0.109 0.0792732 0.1958 0.002 0.0807 0.0575 0.0675 0.2 0.0035 0.1 0.06 0.1451 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.909394 NA NA 0.184419 0.084884 NA 0.065 NA 3.474681 1313 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 1313 11 26587133 26587133 T C exonic MUC15 NA synonymous SNV MUC15:NM_145650:exon2:c.A273G:p.S91S,MUC15:NM_001135091:exon3:c.A354G:p.S118S,MUC15:NM_001135092:exon3:c.A354G:p.S118S exonic ENSG00000169550 NA synonymous SNV ENSG00000169550:ENST00000281268:exon2:c.A354G:p.S118S,ENSG00000169550:ENST00000436318:exon2:c.A354G:p.S118S,ENSG00000169550:ENST00000455601:exon2:c.A273G:p.S91S,ENSG00000169550:ENST00000527569:exon3:c.A354G:p.S118S,ENSG00000169550:ENST00000529533:exon3:c.A354G:p.S118S NA NA 11p14.2 NA NA NA NA rs293980 0.65 0.65 0.636 0.667732 0.7256 0.4772 0.7954 0.7073 0.6605 0.72 0.45 0.77 0.7 0.7267 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 0.176115 NA NA 0.740349 0.728552 NA 0.623 NA 3.4740176 1313 3 10370486 10370486 G C UTR3 ATP2B2 NM_001683:c.*12C>G,NM_001001331:c.*12C>G NA NA UTR3 ENSG00000157087 ENST00000343816:c.*12C>G,ENST00000360273:c.*12C>G,ENST00000397077:c.*12C>G,ENST00000460129:c.*443C>G,ENST00000383800:c.*12C>G,ENST00000352432:c.*12C>G,ENST00000452124:c.*12C>G NA NA NA NA 3p25.3 NA NA NA NA rs4327369 0.42 0.42 0.396 0.46226 0.2634 0.6071 0.3458 0.5038 0.544 0.27 0.62 0.34 0.48 0.3496 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.258255 1.258255 NA 0.246628 0.437358 NA 0.37 NA 3.4737054 1313 3 44854563 44854563 A G intronic KIF15 NA NA NA intronic ENSG00000163808 NA NA NA Score=493;Name=lod=134 NA 3p21.31 NA NA NA NA rs3762636 0.55 0.55 0.51 0.540935 0.5169 0.8512 0.5346 0.2027 0.7076 0.51 0.88 0.56 0.22 0.5247 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 -0.088007 NA NA 0.484767 0.252156 NA 0.42 NA 3.473633 1313 3 48416756 48416756 A G intronic FBXW12 NA NA NA intronic ENSG00000164049 NA NA NA NA NA 3p21.31 NA NA NA NA rs4858817 0.58 0.58 0.547 0.578275 0.5268 0.6587 0.6052 0.4599 0.6892 0.54 0.67 0.6 0.52 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 0.856855 NA NA NA NA NA 0.493 NA 3.4732 1313 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 1313 6 31113052 31113052 G A exonic CCHCR1 NA synonymous SNV CCHCR1:NM_001105563:exon13:c.C1659T:p.D553D,CCHCR1:NM_001105564:exon13:c.C1767T:p.D589D,CCHCR1:NM_019052:exon13:c.C1500T:p.D500D exonic ENSG00000204536 NA synonymous SNV ENSG00000204536:ENST00000396263:exon11:c.C1341T:p.D447D,ENSG00000204536:ENST00000376266:exon13:c.C1500T:p.D500D,ENSG00000204536:ENST00000396268:exon13:c.C1767T:p.D589D,ENSG00000204536:ENST00000451521:exon13:c.C1659T:p.D553D NA NA 6p21.33 NA NA NA NA rs3094225 0.66 0.66 0.652 0.659145 0.7465 0.5258 0.7896 0.5802 0.7209 0.74 0.5 0.8 0.6 0.7123 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 0.345793 NA NA 0.734773 0.625745 NA 0.681 NA 3.4730936 1313 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 1313 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 1313 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 1313 10 28233931 28233931 G A intronic ARMC4 NA NA NA intronic ENSG00000169126 NA NA NA NA NA 10p12.1 Score=800;Name=V$HNF1_01 NA NA NA rs34717952 0.48 0.48 0.452 0.483227 0.5477 0.5 0.562 0.2874 0.6084 0.54 0.51 0.54 0.33 0.5203 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166917 NA NA 0.460233 0.240581 NA NA NA 3.471767 1313 17 61805747 61805747 G A UTR5 STRADA NM_001003786:c.-18C>T,NM_001003788:c.-14330C>T,NM_001165969:c.-18C>T,NM_001165970:c.-18C>T,NM_001003787:c.-18C>T,NM_153335:c.-18C>T NA NA UTR5;UTR3 ENSG00000266173;ENSG00000125695 ENST00000375840:c.-14330C>T,ENST00000245865:c.-14330C>T,ENST00000392950:c.-18C>T,ENST00000336174:c.-18C>T,ENST00000447001:c.-18C>T,ENST00000582137:c.-18C>T,ENST00000579340:c.-14330C>T,ENST00000581243:c.-18C>T,ENST00000580338:c.-14330C>T,ENST00000579549:c.-18C>T,ENST00000582030:c.-14330C>T,ENST00000584110:c.-14330C>T,ENST00000580288:c.-18C>T;ENST00000580553:c.*21C>T NA NA Score=605;Name=lod=385 NA 17q23.3 NA NA NA NA rs4968597 0.68 0.68 0.7 0.725839 0.5974 0.5585 0.6787 0.9561 0.7526 0.6 0.59 0.63 0.96 0.6583 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 0.862564 NA NA 0.60593 0.893327 NA 0.681 NA 3.4717034 1313 22 22055394 22055394 A G UTR3 YPEL1 NM_013313:c.*24T>C NA NA UTR3 ENSG00000100027 ENST00000339468:c.*24T>C NA NA NA NA 22q11.21 NA Name=Nrf1 NA NA rs1860 0.67 0.67 0.641 0.669529 0.6183 0.7411 0.6297 0.6861 0.6544 0.62 0.73 0.65 0.71 0.64 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.920457 NA NA 0.603372 0.66818 NA 0.725 NA 3.4716614 1313 12 6618871 6618871 C T intronic NCAPD2 NA NA NA intronic ENSG00000010292 NA NA NA NA NA 12p13.31 NA NA NA NA rs7309414 0.2 0.2 0.151 0.173323 0.1789 0.3313 0.2003 0.0635 0.1339 0.18 0.33 0.2 0.06 0.174 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.162823 NA NA 0.175465 0.070813 NA 0.152 NA 3.471635 1313 5 171533629 171533629 A G exonic STK10 NA synonymous SNV STK10:NM_005990:exon6:c.T783C:p.S261S exonic ENSG00000072786 NA synonymous SNV ENSG00000072786:ENST00000176763:exon6:c.T783C:p.S261S NA NA 5q35.1 NA NA NA NA rs2306963 0.76 0.76 0.751 0.758986 0.7435 0.8542 0.768 0.677 0.7812 0.75 0.84 0.75 0.68 0.7403 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 -0.406563 NA NA 0.712093 0.685202 NA 0.732 NA 3.4707736 1313 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 1313 2 101635538 101635538 C T UTR3 RPL31 NM_001098577:c.*38C>T NA NA UTR3 ENSG00000071082 ENST00000409028:c.*38C>T NA NA NA NA 2q11.2 NA NA NA NA rs13007048 0.22 0.22 0.194 0.230032 0.2913 0.1677 0.2968 0.0567 0.4182 0.29 0.18 0.33 0.06 0.2745 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.008965 NA NA 0.296916 0.089195 ID=COSN166225;OCCURENCE=1(breast) 0.145 NA 3.4706174 1313 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 1313 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 1313 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 1313 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 1313 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 1313 17 66550887 66550887 G A intronic FAM20A NA NA NA intronic ENSG00000108950 NA NA NA NA NA 17q24.2 NA NA NA NA rs35495396 0.14 0.14 0.136 0.144768 0.2048 0.1131 0.1066 0.1248 0.1697 0.19 0.12 0.11 0.11 0.16 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 0.576309 NA NA 0.16593 0.133227 NA 0.101 NA 3.46927 1313 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 1313 20 18022171 18022171 C T intronic OVOL2 NA NA NA intronic ENSG00000125850 NA NA NA NA NA 20p11.23 Score=942;Name=V$AREB6_01 NA NA NA rs1571431 0.54 0.54 0.569 0.558307 0.495 0.4077 0.5432 0.8192 0.4366 0.49 0.38 0.53 0.8 0.5196 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 0.188887 NA NA 0.516163 0.766228 NA 0.696 NA 3.469237 1313 13 86369120 86369120 C T exonic SLITRK6 NA synonymous SNV SLITRK6:NM_032229:exon2:c.G1524A:p.L508L exonic ENSG00000184564 NA synonymous SNV ENSG00000184564:ENST00000400286:exon2:c.G1524A:p.L508L NA NA 13q31.1 NA NA NA NA rs3825413 0.76 0.76 0.777 0.75 0.7555 0.6964 0.6542 0.8843 0.6861 0.75 0.73 0.65 0.89 0.721 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 -0.590441 NA NA 0.720953 0.863232 ID=COSM1367972;OCCURENCE=1(large_intestine) 0.87 NA 3.4692136 1313 1 234593403 234593403 T C intronic TARBP1 NA NA NA intronic ENSG00000059588 NA NA NA NA NA 1q42.2 NA NA NA NA rs6693478 0.11 0.11 0.094 0.0916534 0.1958 0.001 0.1182 0.0825 0.0716 0.19 NA 0.12 0.1 0.1553 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 0.32093 NA NA 0.180116 0.101726 NA 0.13 NA 3.468784 1313 10 132944958 132944958 C G intronic TCERG1L NA NA NA intronic ENSG00000176769 NA NA NA NA NA 10q26.3 NA NA NA NA rs41282898 0.09 0.09 0.081 0.0784744 0.1909 0.005 0.1095 0.0325 0.0787 0.18 0.01 0.12 0.04 0.1392 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032374 NA NA 0.201395 0.049705 NA 0.072 NA 3.468505 1313 12 56182846 56182846 G C intronic SARNP NA NA NA intronic ENSG00000205323,ENSG00000257390 NA NA NA NA NA 12q13.2 NA NA NA NA rs3741504 0.11 0.11 0.1 0.0880591 0.1988 0.0724 0.1182 0.0121 0.0716 0.19 0.05 0.17 0.01 0.1439 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 -0.270246 NA NA 0.188837 0.044712 ID=COSN164278;OCCURENCE=1(breast),1(large_intestine) 0.072 NA 3.468463 1313 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 1313 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 1313 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 1313 16 71418291 71418291 T C intronic CALB2 NA NA NA intronic ENSG00000172137 NA NA NA NA NA 16q22.2 NA NA NA NA rs41280904 0.1 0.1 0.078 0.0904553 0.1809 0.0427 0.0922 0.0144 0.1483 0.19 0.05 0.11 0.02 0.1524 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011624 NA NA 0.198883 0.038672 NA 0.065 NA 3.467817 1313 18 34289364 34289364 G A intronic FHOD3 NA NA NA intronic ENSG00000134775 NA NA NA NA NA 18q12.2 NA NA NA NA rs11661275 0.1 0.1 0.08 0.0760783 0.2177 0.001 0.1138 0.0136 0.0654 0.22 0.0017 0.14 0.02 0.1364 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.694777 2.694777 NA 0.178222 0.044505 NA 0.21 NA 3.467678 1313 17 11835321 11835321 C T intronic DNAH9 NA NA NA intronic ENSG00000007174 NA NA NA NA NA 17p12 NA NA NA NA rs2286305 0.18 0.18 0.187 0.163738 0.1809 0.1875 0.2363 0.1263 0.1207 0.2 0.18 0.23 0.13 0.1801 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.5222 NA NA 0.171628 0.139128 NA 0.167 NA 3.467372 1313 6 30893728 30893728 C T exonic VARS2 NA synonymous SNV VARS2:NM_001167733:exon28:c.C2613T:p.D871D,VARS2:NM_001167734:exon29:c.C3123T:p.D1041D,VARS2:NM_020442:exon29:c.C3033T:p.D1011D exonic ENSG00000137411 NA synonymous SNV ENSG00000137411:ENST00000321897:exon28:c.C3033T:p.D1011D,ENSG00000137411:ENST00000542001:exon28:c.C2613T:p.D871D,ENSG00000137411:ENST00000416670:exon29:c.C3033T:p.D1011D,ENSG00000137411:ENST00000541562:exon29:c.C3123T:p.D1041D NA NA 6p21.33 NA NA NA NA rs1043483 0.69 0.69 0.67 0.707867 0.7137 0.8671 0.696 0.4622 0.8783 0.74 0.84 0.67 0.45 0.753 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 0.733933 NA NA 0.732927 0.509609 NA 0.761 NA 3.4670396 1313 18 8387219 8387219 G C exonic PTPRM NA synonymous SNV PTPRM:NM_002845:exon29:c.G4155C:p.T1385T,PTPRM:NM_001105244:exon31:c.G4194C:p.T1398T exonic ENSG00000173482 NA synonymous SNV ENSG00000173482:ENST00000444013:exon25:c.G3516C:p.T1172T,ENSG00000173482:ENST00000332175:exon29:c.G4155C:p.T1385T,ENSG00000173482:ENST00000400053:exon29:c.G3969C:p.T1323T,ENSG00000173482:ENST00000400060:exon31:c.G4197C:p.T1399T,ENSG00000173482:ENST00000580170:exon31:c.G4194C:p.T1398T NA NA 18p11.23 NA NA NA NA rs593950 0.74 0.74 0.723 0.737819 0.7266 0.7917 0.8228 0.708 0.6738 0.73 0.77 0.8 0.67 0.7416 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 -1.333962 NA NA 0.731512 0.722651 NA 0.812 NA 3.4669546 1313 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 1313 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 1313 1 175053098 175053098 T C intronic TNN NA NA NA intronic ENSG00000120332 NA NA NA NA NA 1q25.1 NA NA NA NA rs11577778 0.14 0.14 0.138 0.128994 0.1899 0.0585 0.1037 0.146 0.1339 0.19 0.06 0.12 0.18 0.1578 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 0.237846 NA NA 0.186047 0.150477 NA 0.261 NA 3.466253 1313 3 160130110 160130110 G A intronic SMC4 NA NA NA intronic ENSG00000113810,ENSG00000248710 NA NA NA Score=644;Name=lod=553 NA 3q25.33 NA NA NA NA rs2305407 0.45 0.45 0.448 0.435304 0.5159 0.244 0.4467 0.5666 0.364 0.53 0.24 0.46 0.57 0.4878 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.554342 1.554342 NA 0.530077 0.531804 NA 0.536 NA 3.466223 1313 2 31467079 31467079 G A intronic EHD3 NA NA NA intronic ENSG00000013016 NA NA NA NA NA 2p23.1 NA NA NA NA rs2295471 0.54 0.54 0.481 0.534944 0.5338 0.7183 0.6945 0.1641 0.7352 0.55 0.74 0.67 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 0.069608 NA NA NA NA NA 0.391 NA 3.4662 1313 19 15763775 15763775 G A intronic CYP4F3 NA NA NA intronic ENSG00000186529 NA NA NA NA NA 19p13.12 NA NA NA NA rs4646511 0.12 0.12 0.11 0.0920527 0.2038 0.0417 0.1254 0.0401 0.0757 0.21 0.04 0.16 0.04 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 0.250524 NA NA 0.185233 0.066046 NA 0.159 NA 3.466167 1313 9 123783993 123783993 A G intronic C5 NA NA NA intronic ENSG00000106804 NA NA NA NA NA 9q33.2 NA NA NA NA rs10985127 0.23 0.23 0.233 0.240415 0.167 0.244 0.1037 0.441 0.138 0.16 0.21 0.11 0.42 0.1869 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.357849 NA NA 0.18 0.380163 NA 0.261 NA 3.4661 1313 1 12251191 12251191 T A intronic TNFRSF1B NA NA NA intronic ENSG00000028137 NA NA NA NA NA 1p36.22 NA NA NA NA rs472093 0.14 0.14 0.135 0.136182 0.174 0.1349 0.0937 0.0575 0.2352 0.19 0.16 0.12 0.08 0.1713 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 -0.397877 NA NA 0.188721 0.088516 NA 0.254 NA 3.465979 1313 22 23503205 23503205 G C intronic RAB36 NA NA NA intronic ENSG00000100228 NA NA NA NA NA 22q11.23 Score=923;Name=V$CP2_01 NA NA NA rs5759613 0.54 0.54 0.538 0.555312 0.5139 0.6429 0.4654 0.5265 0.6104 0.51 0.63 0.49 0.53 0.5218 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.185938 NA NA 0.498372 0.545166 NA 0.623 NA 3.465928 1313 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 1313 19 51890741 51890741 T C intronic LIM2 NA NA NA intronic ENSG00000105370 NA NA NA NA NA 19q13.41 NA NA NA NA rs2547309 0.33 0.33 0.333 0.357428 0.162 0.3304 0.2911 0.6573 0.228 0.16 0.34 0.28 0.63 0.2312 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.903545 NA NA 0.14093 0.54562 NA 0.268 NA 3.46587 1313 2 54877146 54877146 A G intronic SPTBN1 NA NA NA intronic ENSG00000115306 NA NA NA NA NA 2p16.2 NA NA NA NA rs3739109 0.14 0.14 0.119 0.143371 0.1819 0.1012 0.1052 0.1445 0.1728 0.17 0.12 0.12 0.13 0.1691 0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.992394 NA NA 0.183953 0.123978 NA 0.261 NA 3.465047 1314 20 61460340 61460340 G C intronic COL9A3 NA NA NA intronic ENSG00000092758 NA NA NA NA NA 20q13.33 NA NA NA NA rs114458036 0.2 0.2 0.174 0.202875 0.1412 0.0833 0.1556 0.3797 0.184 0.15 0.1 0.18 0.39 0.2503 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729105 NA NA 0.1435 0.250582 NA NA NA 3.465 1314 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 1314 1 75716925 75716925 C T exonic SLC44A5 NA synonymous SNV SLC44A5:NM_001130058:exon7:c.G315A:p.V105V,SLC44A5:NM_152697:exon7:c.G315A:p.V105V exonic ENSG00000137968 NA synonymous SNV ENSG00000137968:ENST00000370855:exon7:c.G315A:p.V105V,ENSG00000137968:ENST00000370859:exon7:c.G315A:p.V105V NA NA 1p31.1 NA NA NA NA rs588098 0.76 0.76 0.748 0.744609 0.7316 0.9494 0.7637 0.5424 0.8067 0.72 0.95 0.77 0.57 0.7398 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 -0.759124 NA NA 0.731279 0.574671 NA 0.725 NA 3.4639876 1314 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 1314 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 1314 12 48884535 48884535 G C intronic C12orf54 NA NA NA ncRNA_intronic ENSG00000258121 NA NA NA NA NA 12q13.11 NA NA NA NA rs2731102 0.54 0.54 0.532 0.597244 0.4364 0.8194 0.6297 0.531 0.6002 0.41 0.73 0.55 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 -0.321008 NA NA 0.433375 0.513006 NA 0.319 NA 3.4635583 1314 1 167734793 167734793 C T intronic MPZL1 NA NA NA intronic ENSG00000197965 NA NA NA NA NA 1q24.2 NA NA NA NA rs763283 0.25 0.25 0.208 0.222644 0.164 0.371 0.3718 0.1225 0.1595 0.17 0.38 0.35 0.13 0.223 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.21944 NA NA 0.149535 0.123241 NA 0.188 NA 3.463465 1314 19 57060317 57060317 C T intronic ZFP28 NA NA NA ncRNA_intronic ENSG00000269696 NA NA NA NA NA 19q13.43 NA NA NA NA rs2074940 0.45 0.45 0.456 0.461462 0.2714 0.621 0.3689 0.6036 0.3661 0.26 0.63 0.36 0.59 0.3461 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.383834 NA NA 0.253837 0.54335 NA 0.413 NA 3.4619963 1314 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 1314 3 193355074 193355074 T C intronic OPA1 NA NA NA intronic ENSG00000198836 NA NA NA Score=480;Name=lod=119 NA 3q29 NA NA NA NA rs166850 0.91 0.91 0.913 0.922923 0.84 0.9534 0.9063 0.9871 0.9018 0.83 0.96 0.9 0.98 0.8718 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 -0.379448 NA NA 0.826279 0.959374 NA 0.616 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000081773.1|RCV000127276.1;CLNDSDB=.|.;CLNDSDBID=.|. 3.461921 1314 4 185556618 185556618 C T intronic CASP3 NA NA NA intronic ENSG00000164305 NA NA NA NA NA 4q35.1 NA NA NA NA rs1405938 0.09 0.09 0.084 0.0870607 0.1859 NA 0.1268 0.0431 0.1063 0.18 NA 0.14 0.05 0.152 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357558 NA NA 0.200838 0.062188 NA 0.13 NA 3.461262 1314 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 1314 7 34698210 34698210 A G ncRNA_intronic NPSR1-AS1 NA NA NA ncRNA_intronic ENSG00000197085 NA NA NA NA NA 7p14.3 NA NA NA NA rs2530548 0.33 0.33 0.324 0.375998 0.3966 0.1071 0.3919 0.4818 0.4775 0.39 0.11 0.41 0.41 0.3921 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.071886 NA NA 0.417093 0.465729 NA 0.399 NA 3.4608736 1314 5 35807070 35807070 T C intronic SPEF2 NA NA NA ncRNA_intronic ENSG00000248969 NA NA NA NA NA 5p13.2 NA NA NA NA rs36093359 0.31 0.31 0.31 0.29972 0.3091 0.2103 0.2262 0.5008 0.1626 0.31 0.19 0.24 0.49 0.2761 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.54344 NA NA 0.287525 0.431167 NA 0.341 NA 3.4606083 1314 11 117303242 117303242 C T intronic DSCAML1 NA NA NA intronic ENSG00000177103 NA NA NA NA NA 11q23.3 NA NA NA NA rs60580523 0.18 0.18 0.168 0.203874 0.173 0.249 0.1902 0.0817 0.364 0.17 0.27 0.16 0.09 0.1934 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.56235 NA NA 0.173068 0.088596 NA 0.13 NA 3.460532 1314 5 13701327 13701327 A G intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA NA NA NA rs3734112 0.44 0.44 0.434 0.419329 0.5398 0.4435 0.4841 0.2421 0.4642 0.54 0.4 0.51 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 4.026418 4.026418 NA NA NA NA 0.391 NA 3.4602 1314 16 4938280 4938280 T C intronic PPL NA NA NA intronic ENSG00000118898 NA NA NA NA NA 16p13.3 NA NA NA NA rs2075637 0.51 0.51 0.502 0.492612 0.5398 0.6498 0.4856 0.3684 0.455 0.54 0.66 0.48 0.32 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 0.84549 NA NA NA NA NA 0.652 NA 3.4602 1314 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 1314 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 1314 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 1314 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 1314 11 125893275 125893275 C T intronic CDON NA NA NA intronic ENSG00000064309 NA NA NA NA NA 11q24.2 NA NA NA NA rs1939890 0.16 0.16 0.168 0.158546 0.171 0.1677 0.1628 0.1097 0.1994 0.18 0.15 0.15 0.15 0.1804 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 -0.549404 NA NA 0.188881 0.124943 NA 0.08 NA 3.459719 1314 15 100331961 100331961 A G ncRNA_exonic DNM1P46 NA NA NA ncRNA_exonic ENSG00000182397 NA NA NA NA NA 15q26.3 NA NA NA NA rs1809156 0.46 0.46 0.411 0.48742 0.3787 0.5476 0.4697 0.4879 0.5491 0.37 0.52 0.46 0.52 0.4341 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.127217 NA NA 0.394274 0.474315 NA 0.478 NA 3.4595926 1314 1 109814880 109814880 C T intronic CELSR2 NA NA NA intronic ENSG00000143126 NA NA NA NA NA 1p13.3 NA NA NA NA rs4970834 0.17 0.17 0.176 0.171725 0.1859 0.0367 0.1124 0.3003 0.1646 0.19 0.04 0.14 0.3 0.175 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.786356 1.786356 NA 0.18 0.305719 NA 0.21 NA 3.4591 1314 20 6064635 6064635 G A intronic FERMT1 NA NA NA intronic ENSG00000101311 NA NA NA NA NA 20p12.3 NA NA NA NA rs753928 0.39 0.39 0.381 0.357029 0.2654 0.6161 0.3804 0.2882 0.2607 0.26 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 0.843742 NA NA 0.276243 0.313356 NA 0.348 NA 3.458357 1314 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 1314 14 22975700 22975700 T G intergenic OR4E2,DAD1 dist=841462;dist=58107 NA NA upstream;downstream ENSG00000211855;ENSG00000211854 NA NA NA NA NA 14q11.2 NA Name=Pol2-4H8 Name=3 NA rs969914 0.57 0.57 0.511 0.598243 0.672 0.5308 0.7752 0.4039 0.729 0.68 0.49 0.76 0.38 0.6749 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 1.323526 1.323526 NA 0.694907 0.466753 NA 0.659 NA 3.458193 1314 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 1314 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 1314 13 32936646 32936646 T C intronic BRCA2 NA NA NA intronic ENSG00000139618 NA NA NA NA NA 13q13.1 NA NA NA NA rs9534262 0.55 0.55 0.527 0.53155 0.5179 0.5337 0.5389 0.584 0.4673 0.54 0.55 0.54 0.56 0.5208 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.117821 2.117821 NA 0.503721 0.552249 NA 0.558 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_2|not_provided|Neoplastic_Syndromes\x2c_Hereditary;CLNREVSTAT=single|single|single;CLNACC=RCV000113823.2|RCV000124004.1|RCV000132168.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|.|MedGen;CLNDSDBID=NBK1247:C2675520:612555:ORPHA145|.|C0027672 3.457579 1314 17 62121480 62121480 T C exonic ERN1 NA synonymous SNV ERN1:NM_001433:exon22:c.A2802G:p.T934T exonic ENSG00000178607 NA synonymous SNV ENSG00000178607:ENST00000433197:exon22:c.A2802G:p.T934T NA NA 17q23.3 NA NA NA NA rs196912 0.59 0.59 0.566 0.581869 0.7515 0.6806 0.6009 0.2194 0.7822 0.75 0.68 0.61 0.22 0.6968 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 0.54914 NA NA 0.760957 0.318711 NA 0.522 NA 3.4574096 1314 19 21492062 21492062 G A exonic ZNF708 NA nonsynonymous SNV ZNF708:NM_021269:exon3:c.C212T:p.A71V exonic ENSG00000182141 NA nonsynonymous SNV ENSG00000182141:ENST00000601295:exon2:c.C20T:p.A7V,ENSG00000182141:ENST00000356929:exon3:c.C212T:p.A71V NA NA 19p12 NA NA NA NA rs547516 0.9 0.9 0.907 0.898962 0.9692 0.744 0.8473 0.9758 0.9192 0.96 0.77 0.9 0.97 0.9313 0.98 1 T 0.0 B 0.0 B . . 1.000 P -0.55 N 3.29 T -1.002 T 0.000 T 0.023 -2.211 0.005 0.225 -0.861 -0.374 . -2.21064 NA 1 0.975803 0.972084 NA 0.942 NA 3.4570304 1314 3 19992588 19992588 G A intronic RAB5A NA NA NA intronic ENSG00000144566 NA NA NA NA NA 3p24.3 NA NA NA NA rs10510496 0.1 0.1 0.095 0.0822684 0.1889 NA 0.1052 0.0787 0.046 0.18 NA 0.11 0.09 0.1486 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.395686 NA NA 0.205581 0.104857 NA 0.036 NA 3.456919 1314 13 111290880 111290880 G A UTR3 CARKD NM_001242883:c.*5G>A,NM_001242882:c.*5G>A,NM_018210:c.*12G>A,NM_001242881:c.*5G>A NA NA UTR3 ENSG00000213995 ENST00000458711:c.*5G>A,ENST00000424185:c.*5G>A,ENST00000309957:c.*12G>A NA NA NA NA 13q34 NA NA NA NA rs330563 0.36 0.36 0.344 0.378195 0.2803 0.3224 0.4207 0.5136 0.3231 0.27 0.33 0.41 0.49 0.3306 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181839 NA NA 0.265891 0.467742 NA 0.319 NA 3.4565424 1314 6 170892848 170892848 A G intronic PDCD2 NA NA NA intronic ENSG00000071994 NA NA NA NA NA 6q27 NA Name=CTCF NA NA rs4140615 0.63 0.63 0.636 0.612819 0.5109 0.7907 0.4899 0.708 0.4928 0.5 0.8 0.54 0.67 0.5343 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 -0.163015 NA NA 0.498372 0.656903 NA 0.652 NA 3.456428 1314 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 1314 22 50897868 50897868 G A intronic SBF1 NA NA NA intronic ENSG00000100241 NA NA NA NA NA 22q13.33 NA NA NA NA rs2281439 0.2 0.2 0.202 0.186502 0.1849 0.2629 0.2046 0.1989 0.0798 0.18 0.27 0.19 0.18 0.1904 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183624 NA NA 0.168509 0.192361 NA 0.123 NA 3.456191 1314 19 40405847 40405847 C T intronic FCGBP NA NA NA intronic ENSG00000090920 NA NA NA NA NA 19q13.2 NA NA NA NA rs2011817 0.38 0.38 0.33 0.359824 0.5447 0.255 0.6052 0.1241 0.4223 0.56 0.25 0.54 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 -0.246944 NA NA NA NA NA 0.428 NA 3.4553 1314 19 49445679 49445679 C T intronic DHDH NA NA NA intronic ENSG00000104808 NA NA NA NA NA 19q13.33 NA NA NA NA rs11669022 0.25 0.25 0.23 0.258786 0.1759 0.5446 0.2334 0.0681 0.3252 0.2 0.52 0.18 0.08 0.2216 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.388431 NA NA 0.147326 0.094914 NA 0.152 NA 3.455174 1315 14 93429060 93429060 G A intronic ITPK1 NA NA NA intronic ENSG00000100605 NA NA NA NA NA 14q32.12 NA NA NA NA rs2295392 0.24 0.24 0.249 0.225639 0.173 0.3323 0.0865 0.2844 0.1892 0.19 0.35 0.1 0.3 0.1944 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.681529 NA NA 0.178256 0.274399 NA 0.29 NA 3.454344 1315 3 47453216 47453216 G A intronic PTPN23 NA NA NA intronic ENSG00000076201 NA NA NA NA NA 3p21.31 NA NA NA NA rs11707038 0.12 0.12 0.14 0.117612 0.1899 0.001 0.1095 0.1808 0.0838 0.2 0.0017 0.1 0.17 0.1593 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.34467 NA NA 0.196744 0.178847 NA 0.138 NA 3.454056 1315 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 1315 8 132002814 132002814 C T intronic ADCY8 NA NA NA intronic ENSG00000155897 NA NA NA NA NA 8q24.22 NA NA NA NA rs11991124 0.26 0.26 0.276 0.311102 0.168 0.0794 0.2291 0.6921 0.2403 0.16 0.07 0.23 0.66 0.2158 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 3.695462 3.695462 NA 0.162442 0.628007 NA 0.348 NA 3.453758 1315 14 88792816 88792816 T G UTR5 KCNK10 NM_021161:c.-17A>C NA NA UTR5 ENSG00000100433 ENST00000340700:c.-17A>C NA NA NA NA 14q31.3 NA Name=SUZ12 Name=4 NA rs3742690 0.89 0.89 0.882 0.875998 0.9702 0.7867 0.9063 0.8222 0.9223 0.97 0.79 0.91 0.87 0.9357 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 1.788332 1.788332 NA 0.973721 0.858602 NA 0.877 NA 3.4537124 1315 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 1315 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 1315 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 1315 9 2645557 2645557 A T intronic VLDLR NA NA NA intronic ENSG00000147852 NA NA NA NA NA 9p24.2 NA NA NA NA rs6144 0.14 0.14 0.159 0.13119 0.2008 0.003 0.1023 0.2368 0.0695 0.2 0.0035 0.13 0.22 0.1604 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.492424 1.492424 NA 0.186047 0.243532 NA 0.145 NA 3.452753 1315 17 73746146 73746146 T C intronic ITGB4 NA NA NA intronic ENSG00000132470 NA NA NA NA NA 17q25.1 NA Name=Znf143_(16618-1-AP),CTCF_(C-20),GABP,SP2_(SC-643),CTCF_(SC-5916),CTCF,Egr-1,EBF,SMC3_(ab9263),CTCFL_(SC-98982),Rad21,c-Myc Name=140 NA rs820387 0.77 0.77 0.767 0.740615 0.8688 0.7927 0.7334 0.5772 0.7812 0.86 0.79 0.77 0.61 0.807 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 0.311944 NA NA 0.87186 0.620971 NA 0.812 NA 3.45234 1315 7 55220177 55220177 A G intronic EGFR NA NA NA intronic ENSG00000146648 NA NA NA NA NA 7p11.2 NA NA NA NA rs11506105 0.53 0.53 0.554 0.550919 0.5477 0.3502 0.5504 0.68 0.5869 0.55 0.38 0.53 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 -0.368217 NA NA NA NA NA 0.667 NA 3.4523 1315 19 45868478 45868478 T A intronic ERCC2 NA NA NA intronic ENSG00000104884 NA NA NA NA NA 19q13.32 NA NA NA NA rs238407 0.62 0.62 0.658 0.634984 0.5477 0.4901 0.4841 0.9342 0.5767 0.57 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 -0.256145 NA NA NA NA NA 0.739 NA 3.4523 1315 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 1315 14 50133033 50133033 T C intronic POLE2 NA NA NA intronic ENSG00000100479 NA NA NA NA NA 14q21.3 NA NA NA NA rs3218797 0.15 0.15 0.153 0.14377 0.2038 0.005 0.1369 0.2912 0.0307 0.19 0.01 0.17 0.24 0.1531 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.002683 NA NA 0.190975 0.257603 NA 0.087 NA 3.452125 1315 1 206648147 206648147 T G intronic IKBKE NA NA NA intronic ENSG00000143466 NA NA NA NA NA 1q32.1 NA NA NA NA rs1953090 0.21 0.21 0.192 0.228035 0.2594 0.126 0.183 0.261 0.2883 0.25 0.14 0.2 0.23 0.2885 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.477148 NA NA NA NA NA 0.232 NA 3.4521 1315 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 1315 11 2929552 2929552 A G exonic SLC22A18 NA synonymous SNV SLC22A18:NM_002555:exon3:c.A234G:p.V78V,SLC22A18:NM_183233:exon3:c.A234G:p.V78V exonic ENSG00000110628 NA synonymous SNV ENSG00000110628:ENST00000485423:exon2:c.A234G:p.V78V,ENSG00000110628:ENST00000312221:exon3:c.A234G:p.V78V,ENSG00000110628:ENST00000347936:exon3:c.A234G:p.V78V,ENSG00000110628:ENST00000380574:exon3:c.A234G:p.V78V,ENSG00000110628:ENST00000449793:exon3:c.A234G:p.V78V NA NA 11p15.4 NA NA NA NA rs429886 0.73 0.73 0.723 0.750599 0.7416 0.8006 0.6902 0.7179 0.7955 0.74 0.77 0.74 0.66 0.7485 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 -0.717904 NA NA 0.725285 0.747502 NA 0.688 NA 3.4512816 1315 10 89463480 89463480 G A intronic PAPSS2 NA NA NA intronic ENSG00000198682 NA NA NA NA NA 10q23.2 NA NA NA NA rs7923162 0.25 0.25 0.253 0.258786 0.1819 0.2321 0.2911 0.4191 0.1258 0.18 0.22 0.24 0.41 0.1897 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.492708 NA NA 0.177549 0.376142 NA 0.29 NA 3.450851 1315 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 1315 2 11312224 11312224 C T intronic PQLC3 NA NA NA intronic ENSG00000162976 NA NA NA NA NA 2p25.1 NA NA NA NA rs3732103 0.48 0.48 0.449 0.469848 0.5497 0.4415 0.5115 0.3812 0.5072 0.53 0.46 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 0.373465 NA NA NA NA NA 0.565 NA 3.4503 1315 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 1315 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 1315 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 1315 14 101526181 101526181 G A upstream;downstream MIR496;MIR154 NA NA NA upstream;downstream ENSG00000207961;ENSG00000207978 NA NA NA NA NA 14q32.31 NA NA NA NA rs41286572 0.05 0.05 0.045 0.0415335 0.0795 0.0337 0.0447 0.0113 0.0491 0.09 0.04 0.04 0.02 0.062 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 2.485448 2.485448 NA 0.076075 0.032207 NA 0.043 NA 3.4490916 1315 9 116945381 116945381 A G intronic COL27A1 NA NA NA intronic ENSG00000196739 NA NA NA NA NA 9q32 NA NA NA NA rs41306500 0.15 0.15 0.143 0.159545 0.1859 0.1548 0.1441 0.1203 0.2014 0.19 0.14 0.18 0.1 0.1796 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 -0.570386 NA NA 0.185465 0.115751 NA 0.159 NA 3.449035 1315 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 1315 3 47043386 47043386 C T intronic NBEAL2 NA NA NA intronic ENSG00000160796 NA NA NA NA NA 3p21.31 NA NA NA NA rs73075647 0.11 0.11 0.129 0.106829 0.1928 0.001 0.1066 0.1392 0.0838 0.2 0.0017 0.09 0.12 0.158 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.052838 NA NA 0.200307 0.145489 NA 0.145 NA 3.448893 1315 21 45215055 45215055 C G intronic RRP1 NA NA NA intronic ENSG00000160214 NA NA NA NA NA 21q22.3 NA NA NA NA rs2838373 0.23 0.23 0.235 0.260583 0.1581 0.2321 0.2997 0.3328 0.2699 0.16 0.23 0.24 0.33 0.2155 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.388203 NA NA 0.177613 0.305009 ID=COSN166673;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.239 NA 3.448787 1315 14 22356551 22356551 T C intergenic OR4E2,DAD1 dist=222313;dist=677256 NA NA exonic ENSG00000211789 NA nonsynonymous SNV ENSG00000211789:ENST00000390437:exon2:c.T209C:p.F70S NA NA 14q11.2 NA NA NA NA rs10483261 0.56 0.56 0.567 0.602037 0.4264 0.624 0.4841 0.7428 0.6534 0.43 0.64 0.5 0.73 0.5103 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 -1.609995 NA 1 0.44823 0.696229 NA 0.58 NA 3.4484034 1315 1 62380270 62380270 C T exonic INADL NA synonymous SNV INADL:NM_176877:exon26:c.C3504T:p.N1168N exonic ENSG00000132849 NA synonymous SNV ENSG00000132849:ENST00000484937:exon14:c.C1881T:p.N627N,ENSG00000132849:ENST00000316485:exon26:c.C3504T:p.N1168N,ENSG00000132849:ENST00000371158:exon26:c.C3504T:p.N1168N NA NA 1p31.3 NA NA NA NA rs1134766 0.79 0.79 0.799 0.776957 0.7247 0.7431 0.8357 0.888 0.6738 0.72 0.8 0.81 0.89 0.748 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 -0.354043 NA NA 0.746163 0.881979 NA 0.732 NA 3.4478036 1315 1 110294577 110294577 A G intronic EPS8L3 NA NA NA ncRNA_intronic ENSG00000241720 NA NA NA NA NA 1p13.3 NA NA NA NA rs2274536 0.33 0.33 0.315 0.354433 0.2714 0.127 0.2795 0.6657 0.3067 0.3 0.13 0.31 0.63 0.3095 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.105448 NA NA 0.304651 0.600318 NA 0.413 NA 3.4477823 1315 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 1315 8 99057526 99057526 G A intronic RPL30 NA NA NA intronic ENSG00000156482 NA NA NA NA NA 8q22.2 NA Name=Pol2,BCLAF1_(M33-P5B11),Sin3Ak-20,c-Myc,Max,Pol2(b) 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 1315 20 60886611 60886611 C T intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA Name=Pol2 NA NA rs2297590 0.42 0.42 0.414 0.386781 0.5249 0.4087 0.4942 0.1664 0.4438 0.52 0.43 0.53 0.2 0.4982 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.065393 NA NA 0.529872 0.230717 NA 0.348 NA 3.447028 1315 13 99038087 99038087 C T intronic FARP1 NA NA NA intronic ENSG00000152767 NA NA NA NA NA 13q32.2 NA NA NA NA rs584800 0.24 0.24 0.243 0.249201 0.163 0.2163 0.2176 0.3623 0.2413 0.17 0.23 0.22 0.39 0.2093 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.917809 NA NA 0.180814 0.335679 NA 0.254 NA 3.446886 1315 16 28846866 28846866 G A intronic ATXN2L NA NA NA splicing ENSG00000168488 ENST00000566946:exon6:c.661-1G>A NA NA NA NA 16p11.2 NA NA NA NA rs55719896 0.27 0.27 0.21 0.261382 0.329 0.126 0.487 0.2277 0.2168 0.34 0.13 0.41 0.21 0.3446 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.515341 NA NA 0.380642 0.270141 NA 0.116 NA 3.445758 1315 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 1316 7 111541692 111541692 T C intronic DOCK4 NA NA NA intronic ENSG00000128512 NA NA NA NA NA 7q31.1 NA NA NA NA rs12154775 0.21 0.21 0.218 0.197284 0.2048 0.0992 0.1686 0.348 0.1074 0.23 0.1 0.16 0.36 0.1763 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183979 NA NA 0.174555 0.336132 NA 0.304 NA 3.444345 1316 3 46007702 46007702 T C intronic FYCO1 NA NA NA intronic ENSG00000163820 NA NA NA NA NA 3p21.31 NA NA NA NA rs1994490 0.52 0.52 0.467 0.532947 0.5557 0.6667 0.6427 0.2095 0.7311 0.58 0.64 0.62 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 0.637478 NA NA NA NA NA 0.449 NA 3.4443 1316 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 1316 19 53958126 53958126 T G exonic ZNF761 NA nonsynonymous SNV ZNF761:NM_001008401:exon7:c.T365G:p.I122S ncRNA_exonic ENSG00000160336 NA NA NA NA NA 19q13.42 NA NA NA NA rs2708743 0.66 0.66 0.617 0.64377 0.6899 0.5278 0.7666 0.6846 0.5736 0.7 0.52 0.76 0.67 0.6849 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 -0.280277 NA 1 0.68186 0.698139 ID=COSM1564249;OCCURENCE=1(large_intestine) 0.601 NA 3.44334 1316 2 210010228 210010228 C G intergenic PTH2R,MAP2 dist=650997;dist=278543 NA NA ncRNA_exonic ENSG00000232799 NA NA NA NA NA 2q34 NA NA NA NA rs5017674 0.46 0.46 0.463 0.495208 0.5567 0.2619 0.5346 0.649 0.4366 0.52 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 -1.599683 NA NA NA NA NA 0.543 NA 3.4433 1316 3 56647799 56647799 T C intronic CCDC66 NA NA NA intronic ENSG00000180376 NA NA NA NA NA 3p14.3 NA NA NA NA rs17216685 0.29 0.29 0.284 0.329673 0.16 0.4077 0.2017 0.3722 0.4571 0.15 0.39 0.2 0.45 0.2341 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.178859 NA NA 0.162674 0.347254 NA 0.326 NA 3.443226 1316 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 1316 17 79637349 79637349 T C exonic CCDC137 NA synonymous SNV CCDC137:NM_199287:exon3:c.T363C:p.S121S exonic ENSG00000185298 NA stoploss ENSG00000185298:ENST00000571916:exon2:c.T184C:p.X62R NA NA 17q25.3 NA NA NA NA rs10438817 0.98 0.98 0.978 0.98722 0.9583 1 0.9784 0.997 0.9969 0.96 1 0.98 1 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 -2.185359 NA NA 0.958967 0.992772 NA 0.993 NA 3.4428663 1316 20 62309554 62309554 C T ncRNA_intronic RTEL1-TNFRSF6B NA NA NA exonic ENSG00000026036 NA nonsynonymous SNV ENSG00000026036:ENST00000492259:exon10:c.C976T:p.R326C NA NA 20q13.33 NA NA NA NA rs41309367 0.59 0.59 0.596 0.611621 0.7058 0.2877 0.6427 0.7224 0.6769 0.69 0.27 0.7 0.75 0.6648 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 0.734034 NA NA 0.686628 0.709941 NA 0.746 NA 3.442772 1316 5 640728 640728 G A intronic CEP72 NA NA NA intronic ENSG00000112877 NA NA NA NA NA 5p15.33 NA NA NA NA rs56325086 0.1 0.1 0.084 0.0920527 0.1899 0.0109 0.1138 0.0045 0.1779 0.2 0.01 0.14 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 -0.833841 NA NA 0.197417 0.03813 NA 0.094 NA 3.442483 1316 16 1557268 1557268 C T intronic TELO2 NA NA NA intronic ENSG00000100726 NA NA NA NA NA 16p13.3 NA NA NA NA rs3736721 0.23 0.23 0.239 0.254393 0.172 0.255 0.1542 0.3593 0.2679 0.18 0.24 0.17 0.36 0.2078 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.613703 NA NA 0.177791 0.314916 NA 0.203 NA 3.442409 1316 17 74161533 74161533 C T intronic RNF157 NA NA NA intronic ENSG00000141576 NA NA NA NA NA 17q25.1 NA NA NA NA rs16968642 0.17 0.17 0.17 0.196885 0.1819 0.1389 0.2334 0.1997 0.2423 0.18 0.14 0.22 0.16 0.1885 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.717744 NA NA 0.187209 0.201543 NA 0.261 NA 3.442391 1316 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 1316 19 15784319 15784319 G T intronic CYP4F12 NA NA NA UTR5 ENSG00000186204 ENST00000324632:c.-21G>T NA NA NA NA 19p13.12 NA Name=GR,RXRA,Rad21,FOXA2_(SC-6554),TCF4,HNF4G_(SC-6558),HEY1,HNF4A,TAF1,CTCF,CHD2_(N-1250),FOXA1_(SC-101058),FOXA1_(C-20) Name=7 NA rs56124328 0.93 0.93 0.917 0.848243 0.8628 0.999 0.9179 0.7103 0.8149 0.92 1 0.96 0.82 0.9312 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.267899 NA NA 0.930484 0.84482 NA 0.739 NA 3.4421827 1316 8 132997353 132997353 T C intronic EFR3A NA NA NA intronic ENSG00000132294 NA NA NA NA NA 8q24.22 NA NA NA NA rs10085968 0.19 0.19 0.195 0.169928 0.1928 0.3313 0.1614 0.031 0.1738 0.2 0.33 0.16 0.03 0.1863 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.072367 NA NA 0.178879 0.051067 NA 0.101 NA 3.442021 1316 18 43523312 43523312 G A intronic EPG5 NA NA NA intronic ENSG00000152223 NA NA NA NA NA 18q21.1 NA NA NA NA rs3745000 0.32 0.32 0.326 0.377196 0.16 0.3333 0.353 0.6513 0.2924 0.15 0.33 0.31 0.59 0.2482 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.038687 NA NA 0.149939 0.565217 NA 0.297 NA 3.441861 1316 21 45494183 45494183 G A intronic TRAPPC10 NA NA NA intronic ENSG00000160218 NA NA NA NA NA 21q22.3 NA NA NA NA rs2277805 0.21 0.21 0.219 0.247005 0.165 0.1925 0.2017 0.3306 0.3067 0.17 0.19 0.22 0.29 0.2114 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.010641 NA NA 0.182093 0.316614 NA 0.174 NA 3.441507 1316 14 77900165 77900165 C T intronic VIPAS39 NA NA NA intronic ENSG00000151445 NA NA NA NA NA 14q24.3 NA NA NA NA rs34835605 0.13 0.13 0.093 0.138578 0.1928 0.0159 0.2608 0.059 0.2301 0.18 0.01 0.29 0.06 0.1826 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525684 NA NA 0.18314 0.08897 NA 0.174 NA 3.44146 1316 10 17210822 17210822 A C intronic TRDMT1 NA NA NA intronic ENSG00000107614 NA NA NA NA NA 10p13 NA NA Name=2 NA rs17464824 0.42 0.42 0.408 0.439696 0.499 0.4504 0.3732 0.3185 0.5787 0.51 0.42 0.4 0.29 0.5181 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.363956 2.363956 NA 0.541628 0.356105 NA 0.406 NA 3.441272 1316 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 1316 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 1316 19 21203552 21203552 C T UTR5 ZNF430 NM_001172671:c.-55C>T,NM_025189:c.-55C>T NA NA UTR5 ENSG00000118620 ENST00000261560:c.-55C>T,ENST00000599548:c.-55C>T,ENST00000594110:c.-55C>T,ENST00000595401:c.-55C>T NA NA NA NA 19p12 NA Name=TAF7_(SQ-8),Pol2(phosphoS2),Pol2,CHD2_(N-1250),HEY1,ELF1_(SC-631),NFKB,TAF1,Pol2-4H8,GABP,E2F4,Sin3Ak-20,TCF4,TBP,Pol2(b),NF-YB NA NA rs2081054 0.93 0.93 0.934 0.91893 0.9543 0.8581 0.9121 0.9516 0.9059 0.95 0.87 0.91 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 0.09798 NA NA 0.938404 0.96026 NA 0.957 NA 3.4406294 1316 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 1316 3 167764820 167764820 A G intronic GOLIM4 NA NA NA intronic ENSG00000173905 NA NA NA NA NA 3q26.2 NA NA NA NA rs77249029 0.13 0.13 0.11 0.120807 0.2018 0.0218 0.1427 0.1127 0.135 0.19 0.02 0.18 0.12 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 0.316669 NA NA 0.190096 0.105517 NA 0.13 NA 3.440304 1316 2 219903723 219903723 C T exonic CCDC108 NA synonymous SNV CCDC108:NM_194302:exon3:c.G48A:p.V16V exonic ENSG00000181378 NA synonymous SNV ENSG00000181378:ENST00000453220:exon1:c.G48A:p.V16V,ENSG00000181378:ENST00000441968:exon2:c.G48A:p.V16V,ENSG00000181378:ENST00000341552:exon3:c.G48A:p.V16V NA NA 2q35 NA NA NA NA rs4674354 0.61 0.61 0.603 0.585463 0.7634 0.4266 0.6182 0.531 0.6166 0.78 0.44 0.62 0.53 0.6978 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 -0.373991 NA NA 0.765233 0.549932 ID=COSM149070;OCCURENCE=1(stomach) 0.638 NA 3.4402336 1316 14 31359024 31359024 A T UTR3 COCH NM_004086:c.*27A>T,NM_001135058:c.*27A>T NA NA UTR3 ENSG00000100473 ENST00000216361:c.*27A>T,ENST00000396618:c.*27A>T,ENST00000460581:c.*27A>T,ENST00000382493:c.*27A>T,ENST00000468826:c.*27A>T NA NA NA NA 14q12 NA NA NA NA rs13122 0.17 0.17 0.145 0.169529 0.3221 0.0268 0.196 0.1089 0.2229 0.32 0.01 0.23 0.1 0.2537 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.588524 2.588524 NA 0.317326 0.141171 NA 0.268 NA 3.4402074 1316 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 1316 1 158618223 158618223 C T intronic SPTA1 NA NA NA intronic ENSG00000163554 NA NA NA NA NA 1q23.1 NA NA NA NA rs857677 0.57 0.57 0.55 0.544129 0.5606 0.5883 0.5403 0.5946 0.4162 0.58 0.57 0.54 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 1.047474 NA NA NA NA NA 0.558 NA 3.4394 1316 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 1316 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 1316 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 1316 4 22820504 22820504 A T exonic GBA3 NA unknown UNKNOWN exonic ENSG00000249948 NA unknown UNKNOWN Score=428;Name=lod=73 NA 4p15.2 NA NA NA NA rs358231 0.88 0.88 0.877 0.891573 0.8469 0.7996 0.8919 0.9713 0.9243 0.86 0.8 0.91 0.97 0.8653 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 0.313508 NA NA 0.849178 0.958312 NA 0.92 NA 3.438622 1316 19 18675612 18675612 T G intronic KXD1 NA NA NA intronic ENSG00000105700 NA NA NA NA NA 19p13.11 NA NA NA NA rs62137086 0.5 0.5 0.48 0.459065 0.5616 0.6895 0.5504 0.1339 0.4908 0.58 0.68 0.52 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 -0.68252 NA NA NA NA NA 0.399 NA 3.4384 1316 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 1316 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 1316 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 1316 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 1316 2 234354245 234354245 G A intronic DGKD NA NA NA intronic ENSG00000077044 NA NA NA NA NA 2q37.1 NA NA NA NA rs2305542 0.27 0.27 0.314 0.323083 0.1819 0.1617 0.1758 0.6747 0.2638 0.17 0.15 0.16 0.64 0.2143 0.64 NA NA 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 0.167326 0.581026 NA 0.457 NA 3.436474 1316 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 1316 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 1316 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 1316 21 33839992 33839992 T G intronic EVA1C NA NA NA intronic ENSG00000166979 NA NA NA NA NA 21q22.11 NA NA NA NA rs111977143 0.19 0.19 0.175 0.170327 0.1948 0.2252 0.2565 0.059 0.1779 0.2 0.23 0.25 0.07 0.1888 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.496208 1.496208 NA 0.18093 0.060145 NA 0.21 NA 3.43547 1317 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 1317 8 21905772 21905772 G C UTR3 FGF17 NM_003867:c.*12G>C NA NA UTR3 ENSG00000158815 ENST00000518533:c.*12G>C,ENST00000359441:c.*12G>C NA NA NA NA 8p21.3 NA NA NA NA rs3176304 0.23 0.23 0.165 0.2498 0.2932 0.2054 0.3588 0.1006 0.3753 0.29 0.24 0.33 0.07 0.3588 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.350049 3.350049 NA 0.246629 0.105128 NA 0.152 NA 3.4347044 1317 19 47287405 47287405 T C intronic SLC1A5 NA NA NA intronic ENSG00000105281 NA NA NA NA NA 19q13.32 NA NA NA NA rs3027958 0.1 0.1 0.098 0.102636 0.1938 0.001 0.1052 0.0575 0.1728 0.2 0.0035 0.13 0.04 0.1646 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.296903 NA NA 0.207093 0.071493 NA 0.087 NA 3.434507 1317 8 17491730 17491730 T C intronic PDGFRL NA NA NA intronic ENSG00000104213 NA NA NA NA NA 8p22 NA NA NA NA rs7006613 0.35 0.35 0.351 0.428514 0.1441 0.3452 0.3934 0.7526 0.3937 0.15 0.31 0.36 0.71 0.2714 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.736777 NA NA 0.15 0.650477 NA 0.5 NA 3.4345 1317 12 78334053 78334053 G C intronic NAV3 NA NA NA intronic ENSG00000067798 NA NA NA NA NA 12q21.2 NA Name=c-Fos,Pol2(b),JunD,p300_(N-15),TCF4,STAT3,c-Jun,GATA-2 Name=120 NA rs1731740 0.9 0.9 0.902 0.892772 0.8588 0.9792 0.8314 0.9175 0.8487 0.86 0.98 0.85 0.9 0.8592 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 0.270401 NA NA 0.847589 0.900586 NA 0.891 NA 3.434411 1317 2 51125707 51125707 C G intronic NRXN1 NA NA NA intronic ENSG00000179915 NA NA NA NA NA 2p16.3 NA NA NA NA rs62140645 0.15 0.15 0.131 0.140375 0.1948 0.1994 0.1138 0.0303 0.1912 0.2 0.21 0.11 0.04 0.2071 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129782 NA NA 0.163815 0.073968 NA 0.152 NA 3.434285 1317 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 1317 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 1317 1 1387726 1387726 A G intronic ATAD3C NA NA NA intronic ENSG00000215915 NA NA NA NA NA 1p36.33 NA NA NA NA rs9793066 0.27 0.27 0.236 0.290535 0.159 0.3919 0.3847 0.2005 0.3763 0.16 0.39 0.35 0.25 0.2432 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.881031 NA NA 0.163734 0.174855 NA 0.239 NA 3.434066 1317 10 129245628 129245628 G A intronic DOCK1 NA NA NA intronic ENSG00000150760 NA NA NA NA NA 10q26.2 NA NA NA NA rs869800 0.16 0.16 0.158 0.155551 0.175 0.121 0.183 0.1452 0.1656 0.17 0.12 0.21 0.17 0.2106 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.129202 NA NA 0.180939 0.137056 NA 0.13 NA 3.433461 1317 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 1317 19 48801414 48801414 G T intronic CCDC114 NA NA NA intronic ENSG00000105479 NA NA NA NA NA 19q13.33 NA NA NA NA rs8111297 0.17 0.17 0.181 0.152157 0.1988 0.124 0.0965 0.1331 0.1984 0.21 0.14 0.12 0.17 0.1828 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.967103 NA NA 0.185698 0.164775 NA 0.188 NA 3.432702 1317 13 99447005 99447005 T C intronic DOCK9 NA NA NA intronic ENSG00000088387 NA NA NA NA NA 13q32.3 NA Name=CTCF,CTCF_(SC-5916) Name=10 NA rs812808 0.8 0.8 0.824 0.755591 0.8757 0.7808 0.7161 0.7489 0.6431 0.88 0.77 0.73 0.76 0.8124 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 -2.163899 NA NA 0.879458 0.764592 NA 0.746 NA 3.432442 1317 10 46215431 46215431 A G intergenic ZFAND4,FAM21C dist=47180;dist=7217 NA NA ncRNA_intronic ENSG00000237840 NA NA NA NA NA 10q11.22 NA NA NA NA rs2442927 0.57 0.57 0.552 0.590655 0.5676 0.6875 0.5879 0.4569 0.6973 0.55 0.69 0.56 0.48 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 0.174163 NA NA NA NA NA 0.333 NA 3.4324 1317 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 1317 7 157984992 157984992 G A intronic PTPRN2 NA NA NA intronic ENSG00000155093 NA NA NA NA NA 7q36.3 NA NA NA NA rs3800856 0.25 0.25 0.278 0.266573 0.1769 0.245 0.2147 0.3805 0.2638 0.18 0.27 0.2 0.39 0.2293 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.478541 NA NA 0.161583 0.350957 NA 0.239 NA 3.432217 1317 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 1317 19 14037768 14037768 C T intronic CC2D1A NA NA NA intronic ENSG00000132024 NA NA NA NA NA 19p13.12 NA NA NA NA rs750580 0.25 0.25 0.218 0.263578 0.1759 0.3006 0.268 0.2799 0.2904 0.18 0.3 0.27 0.3 0.2166 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.269391 1.269391 NA 0.175478 0.266125 NA 0.232 NA 3.432022 1317 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 1317 15 102215765 102215765 G A intronic TARSL2 NA NA NA intronic ENSG00000185418 NA NA NA NA NA 15q26.3 NA NA NA NA rs8024223 0.12 0.12 0.098 0.100839 0.1998 0.0099 0.1484 0.053 0.1237 0.2 0.01 0.16 0.08 0.1611 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.611517 NA NA 0.207674 0.067635 NA 0.239 NA 3.431426 1317 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 1317 14 67147816 67147816 T C intronic GPHN NA NA NA intronic ENSG00000171723 NA NA NA NA NA 14q23.3 NA NA NA NA rs3759753 0.39 0.39 0.387 0.45028 0.1581 0.4782 0.415 0.73 0.3691 0.13 0.48 0.4 0.67 0.2661 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 -0.498086 NA NA 0.144801 0.644576 ID=COSM147798;OCCURENCE=1(stomach) 0.362 NA 3.430999 1317 9 131193605 131193605 T C intronic CERCAM NA NA NA intronic ENSG00000167123 NA NA NA NA NA 9q34.11 NA NA NA NA rs1009851 0.32 0.32 0.336 0.326478 0.1889 0.3919 0.2032 0.531 0.2117 0.19 0.4 0.17 0.52 0.2254 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.201231 NA NA 0.154884 0.504766 NA 0.29 NA 3.430816 1317 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 1317 8 20036019 20036019 A G intronic SLC18A1 NA NA NA intronic ENSG00000036565 NA NA NA NA NA 8p21.3 NA NA NA NA rs28633772 NA NA NA 0.114417 0.1799 0.1101 0.1427 0.0658 0.0971 NA NA NA NA 0.3897 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.014331 NA NA NA NA NA NA NA 3.4304 1317 2 228128540 228128540 C T exonic COL4A3 NA synonymous SNV COL4A3:NM_000091:exon21:c.C1195T:p.L399L exonic ENSG00000169031 NA synonymous SNV ENSG00000169031:ENST00000396578:exon21:c.C1195T:p.L399L NA NA 2q36.3 NA NA NA NA rs10205042 0.76 0.76 0.731 0.767572 0.7356 0.8621 0.7853 0.6725 0.819 0.72 0.87 0.77 0.67 0.7667 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 0.636303 NA NA 0.734142 0.682263 NA 0.696 NA 3.4302246 1317 2 26607992 26607992 T C exonic EPT1 NA unknown UNKNOWN exonic ENSG00000138018 NA synonymous SNV ENSG00000138018:ENST00000447170:exon6:c.T525C:p.A175A Score=586;Name=lod=320 NA 2p23.3 NA NA NA NA rs934280 0.93 0.93 0.914 0.939097 0.9702 0.8899 0.9755 0.9009 0.9836 0.97 0.9 0.98 0.87 0.9629 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 1.076596 NA NA 0.970155 0.912852 NA 0.942 NA 3.4300783 1317 7 100552251 100552251 T C intergenic ACHE,MUC12 dist=58710;dist=60653 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000319509:exon1:c.T1002C:p.S334S NA NA 7q22.1 NA NA NA NA rs9691900 NA NA 0.651 0.426917 0.4632 0.5208 0.2939 0.447 0.3599 NA NA NA NA 0.6068 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.158947 NA NA NA NA NA 0.572 NA 3.43 1317 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 1317 11 117299039 117299039 G C UTR3 DSCAML1 NM_020693:c.*5C>G NA NA UTR3 ENSG00000177103 ENST00000321322:c.*5C>G,ENST00000527706:c.*5C>G NA NA NA NA 11q23.3 NA NA NA NA rs3741283 0.3 0.3 0.295 0.354832 0.328 0.0446 0.268 0.6104 0.4182 0.31 0.03 0.32 0.57 0.3009 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.317493 NA NA 0.275291 0.535941 NA 0.326 NA 3.4291424 1317 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 1317 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 1317 18 32822382 32822382 G T UTR5 ZNF397 NM_001135178:c.-53G>T,NM_032347:c.-53G>T NA NA UTR5 ENSG00000186812 ENST00000601719:c.-53G>T,ENST00000330501:c.-53G>T,ENST00000591206:c.-53G>T,ENST00000355632:c.-53G>T,ENST00000261333:c.-53G>T,ENST00000585800:c.-53G>T,ENST00000592264:c.-53G>T NA NA NA NA 18q12.2 NA NA NA NA rs4799374 0.81 0.81 0.803 0.792931 0.9046 0.5804 0.8689 0.8495 0.7669 0.89 0.61 0.87 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 -0.384202 NA NA NA NA NA 0.848 NA 3.4287334 1317 20 60573983 60573983 A G intronic TAF4 NA NA NA intronic ENSG00000130699 NA NA NA NA NA 20q13.33 NA NA NA NA rs2296082 0.44 0.44 0.443 0.409145 0.5716 0.1974 0.4755 0.4554 0.3507 0.56 0.2 0.5 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 -0.513187 NA NA NA NA NA 0.486 NA 3.4284 1317 4 87968798 87968798 A T intronic AFF1 NA NA NA intronic ENSG00000172493 NA NA NA NA NA 4q21.3 NA NA NA NA rs6854749 0.23 0.23 0.2 0.220647 0.1889 0.3264 0.2406 0.2489 0.092 0.19 0.31 0.23 0.2 0.2074 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.990989 NA NA 0.175314 0.227139 NA 0.152 NA 3.428386 1317 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 1317 7 158529704 158529704 G A intronic ESYT2 NA NA NA intronic ENSG00000117868 NA NA NA NA NA 7q36.3 NA NA NA NA rs6960873 0.32 0.32 0.327 0.336062 0.17 0.5843 0.1801 0.3994 0.2761 0.17 0.56 0.17 0.38 0.2309 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.620903 NA NA 0.171395 0.341807 NA 0.232 NA 3.427705 1317 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 1317 4 71468396 71468396 A G intronic AMBN NA NA NA intronic ENSG00000178522 NA NA NA NA NA 4q13.3 NA NA NA NA rs35859385 0.11 0.11 0.096 0.0760783 0.1938 0.003 0.1225 0.0363 0.0511 0.22 0.0035 0.14 0.04 0.1562 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.229507 NA NA 0.223427 0.065615 NA 0.051 NA 3.426573 1317 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 1317 3 108285518 108285518 T A intronic KIAA1524 NA NA NA intronic ENSG00000163507 NA NA NA NA NA 3q13.13 NA NA NA NA rs2603121 0.11 0.11 0.081 0.0802716 0.2097 NA 0.147 0.0182 0.0665 0.21 NA 0.17 0.04 0.1648 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.674706 2.674706 NA 0.19958 0.043617 NA 0.123 NA 3.42592 1317 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 1317 19 56180732 56180732 T C intronic U2AF2 NA NA NA ncRNA_intronic ENSG00000267523 NA NA NA NA NA 19q13.42 NA NA NA NA rs681804 0.8 0.8 0.787 0.78115 0.9076 0.6905 0.9294 0.6324 0.8405 0.92 0.72 0.93 0.64 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 -0.292027 NA NA NA NA NA 0.754 NA 3.4257333 1317 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 1317 14 24806229 24806229 G A intronic RIPK3 NA NA NA intronic ENSG00000129465,ENSG00000258973 NA NA NA NA NA 14q12 NA NA NA NA rs724165 0.33 0.33 0.3 0.289537 0.5746 0.1448 0.3862 0.1112 0.318 0.58 0.16 0.4 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 0.461177 NA NA NA NA NA 0.406 NA 3.4254 1317 19 48801218 48801218 G A intronic CCDC114 NA NA NA intronic ENSG00000105479 NA NA NA NA NA 19q13.33 NA NA NA NA rs12104393 0.17 0.17 0.176 0.154153 0.1988 0.124 0.0994 0.1392 0.1984 0.21 0.14 0.12 0.18 0.1905 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.145144 NA NA 0.185465 0.168861 NA 0.196 NA 3.425235 1318 13 46641481 46641481 T C exonic CPB2 NA synonymous SNV CPB2:NM_001872:exon7:c.A663G:p.P221P exonic ENSG00000080618 NA synonymous SNV ENSG00000080618:ENST00000181383:exon7:c.A663G:p.P221P NA NA 13q14.13 NA NA NA NA rs7337140 0.82 0.82 0.836 0.806709 0.7416 0.8234 0.7911 0.9138 0.7229 0.75 0.85 0.8 0.91 0.7649 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 -0.684679 NA NA 0.735233 0.881298 NA 0.804 NA 3.4249336 1318 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 1318 10 81065774 81065774 G T intronic ZMIZ1 NA NA NA intronic ENSG00000108175 NA NA NA NA NA 10q22.3 NA NA NA NA rs1250557 0.59 0.59 0.56 0.613019 0.5755 0.5655 0.7003 0.5938 0.6646 0.57 0.62 0.64 0.55 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 -0.627556 NA NA NA NA NA 0.63 NA 3.4245 1318 17 80043349 80043349 C T intronic FASN NA NA NA intronic ENSG00000169710 NA NA NA NA NA 17q25.3 NA NA Name=3 NA rs17848939 0.44 0.44 0.461 0.422125 0.495 0.3462 0.3415 0.5045 0.3712 0.49 0.36 0.37 0.49 0.5105 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.020774 NA NA 0.570201 0.570741 NA 0.355 NA 3.424299 1318 11 73611478 73611478 C G intronic PAAF1 NA NA NA intronic ENSG00000175575 NA NA NA NA NA 11q13.4 NA NA NA NA rs2067913 0.29 0.29 0.295 0.315096 0.1859 0.1865 0.1974 0.6278 0.2413 0.19 0.2 0.25 0.59 0.22 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.482031 NA NA 0.169928 0.524773 NA 0.362 NA 3.424172 1318 5 174870150 174870150 C T UTR5 DRD1 NM_000794:c.-48G>A NA NA UTR5 ENSG00000184845 ENST00000393752:c.-48G>A NA NA NA NA 5q35.2 NA Name=ZNF263 NA NA rs4532 0.75 0.75 0.738 0.755391 0.5994 0.8462 0.7205 0.9365 0.6022 0.58 0.85 0.71 0.91 0.6801 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 0.119928 NA NA 0.629746 0.872611 NA 0.696 NA 3.4240874 1318 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 1318 12 53421507 53421507 G A intronic EIF4B NA NA NA ncRNA_intronic ENSG00000257337 NA NA NA NA NA 12q13.13 NA NA NA NA rs4919697 0.79 0.79 0.758 0.753794 0.9095 0.7946 0.9121 0.4539 0.8446 0.9 0.82 0.9 0.49 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 -0.955595 NA NA NA NA NA 0.775 NA 3.4238333 1318 8 22785047 22785047 C T intronic PEBP4 NA NA NA intronic ENSG00000134020 NA NA NA NA NA 8p21.3 NA NA NA NA rs73218763 0.17 0.17 0.138 0.171326 0.1899 0.1984 0.1484 0.0847 0.2577 0.19 0.17 0.19 0.11 0.192 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 -0.374362 NA NA 0.194293 0.091651 NA 0.181 NA 3.423807 1318 17 30502955 30502955 G A intronic RHOT1 NA NA NA intronic ENSG00000126858 NA NA NA NA NA 17q11.2 NA NA NA NA rs8076276 0.2 0.2 0.211 0.220847 0.1909 0.2222 0.2133 0.2042 0.2781 0.18 0.22 0.19 0.21 0.2097 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.101629 NA NA 0.175704 0.176658 NA 0.203 NA 3.423696 1318 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 1318 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 1318 2 61304002 61304002 A G intronic KIAA1841 NA NA NA intronic ENSG00000162929 NA NA NA NA NA 2p15 NA NA NA NA rs1729657 0.65 0.65 0.645 0.617212 0.5765 0.505 0.6455 0.9576 0.2945 0.57 0.51 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 0.303283 NA NA NA NA ID=COSN166102;OCCURENCE=1(breast) 0.71 NA 3.4235 1318 7 157208617 157208617 C T intronic DNAJB6 NA NA NA intronic ENSG00000105993 NA NA NA NA NA 7q36.3 NA NA NA NA rs1009135 0.61 0.61 0.541 0.627796 0.5765 0.7024 0.732 0.5242 0.6697 0.56 0.72 0.68 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 -0.063706 NA NA NA NA ID=COSN168249;OCCURENCE=1(large_intestine) 0.493 NA 3.4235 1318 16 81398520 81398520 G A intronic GAN NA NA NA intronic ENSG00000127688 NA NA NA NA NA 16q23.2 NA NA NA NA rs4889313 0.72 0.72 0.713 0.739617 0.5765 0.9167 0.7046 0.7481 0.7382 0.57 0.91 0.7 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 -0.617883 NA NA NA NA NA 0.71 NA 3.4235 1318 11 18503159 18503159 C T intronic TSG101 NA NA NA intronic ENSG00000074319 NA NA NA NA NA 11p15.1 NA NA NA NA rs2279900 0.24 0.24 0.236 0.25639 0.1978 0.4385 0.2363 0.0651 0.4018 0.19 0.47 0.21 0.08 0.2209 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062129 NA NA 0.158514 0.085948 NA 0.326 NA 3.422786 1318 19 6535080 6535080 T C UTR3 TNFSF9 NM_003811:c.*3T>C NA NA UTR3 ENSG00000125657 ENST00000245817:c.*3T>C NA NA NA NA 19p13.3 NA Name=Pol2-4H8 NA NA rs2234182 0.65 0.65 0.646 0.645367 0.6362 0.7619 0.5865 0.5628 0.6881 0.62 0.76 0.61 0.58 0.6622 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 0.301439 NA NA 0.612779 0.56873 NA 0.464 NA 3.4221544 1318 13 99042390 99042390 T C intronic FARP1 NA NA NA intronic ENSG00000152767 NA NA NA NA NA 13q32.2 NA NA NA NA rs2256823 0.3 0.3 0.3 0.325479 0.169 0.2391 0.2464 0.6067 0.2515 0.17 0.25 0.24 0.62 0.2327 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.03198 NA NA 0.176395 0.54108 NA 0.341 NA 3.421905 1318 17 4885982 4885982 G A intronic CAMTA2 NA NA NA intronic ENSG00000108509 NA NA NA NA NA 17p13.2 NA NA NA NA rs238233 0.57 0.57 0.558 0.542133 0.5785 0.4067 0.6571 0.6702 0.3896 0.58 0.39 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 -1.859657 NA NA NA NA NA 0.594 NA 3.4215 1318 19 4292898 4292898 C G intronic TMIGD2 NA NA NA intronic ENSG00000167664 NA NA NA NA NA 19p13.3 NA NA NA NA rs55767880 0.17 0.17 0.14 0.164936 0.1998 0.1944 0.2522 0.034 0.2137 0.21 0.18 0.25 0.05 0.1929 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.849567 NA NA 0.18609 0.067666 NA 0.246 NA 3.42121 1318 3 108541761 108541761 T C UTR5 TRAT1 NM_016388:c.-14T>C NA NA UTR5 ENSG00000163519 ENST00000295756:c.-14T>C,ENST00000426646:c.-14T>C NA NA NA NA 3q13.13 NA NA NA NA rs9879812 0.19 0.19 0.183 0.190296 0.3151 0.0397 0.268 0.0923 0.2945 0.32 0.04 0.26 0.12 0.2717 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.046254 NA NA 0.32546 0.128747 NA 0.319 NA 3.4210734 1318 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 1318 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 1318 2 113343488 113343488 A T intronic CHCHD5 NA NA NA intronic ENSG00000125611 NA NA NA NA NA 2q13 NA NA NA NA rs3789722 0.35 0.35 0.332 0.353834 0.5795 0.2688 0.4092 0.0605 0.5665 0.57 0.23 0.44 0.08 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 -0.648551 NA NA NA NA NA 0.442 NA 3.4205 1318 15 86278395 86278395 A C intronic AKAP13 NA NA NA intronic ENSG00000170776 NA NA NA NA NA 15q25.3 NA NA NA NA rs17638180 0.09 0.09 0.09 0.076877 0.1958 0.001 0.0994 0.0098 0.1074 0.2 0.0017 0.11 0.02 0.1604 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.117597 NA NA 0.223308 0.050409 NA 0.072 NA 3.420492 1318 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 1318 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 1318 3 183535763 183535763 A G intronic MAP6D1 NA NA NA intronic ENSG00000180834 NA NA NA NA NA 3q27.1 NA Name=CTCF NA NA rs897604 0.52 0.52 0.51 0.509185 0.5308 0.6181 0.5187 0.3782 0.545 0.52 0.64 0.54 0.34 0.5166 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044802 NA NA 0.533256 0.413981 NA 0.594 NA 3.419344 1318 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 1318 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 1318 X 22239720 22239720 C T intronic PHEX NA NA NA intronic ENSG00000102174 NA NA NA NA NA Xp22.11 NA NA NA NA rs3752433 0.29 0.29 0.30127 NA NA NA NA NA NA 0.3 0.16 0.23 0.47 0.2737 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.319306 1.319306 NA 0.307372 0.460997 NA 0.333 NA 3.418928 1318 11 18536215 18536215 G T intronic TSG101 NA NA NA intronic ENSG00000074319 NA NA NA NA NA 11p15.1 NA NA NA NA rs12574333 0.24 0.24 0.226 0.258586 0.1978 0.4385 0.2363 0.0741 0.4008 0.18 0.47 0.21 0.09 0.225 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221686 NA NA 0.158778 0.100045 NA 0.312 NA 3.418422 1318 21 47420726 47420726 C G intronic COL6A1 NA NA NA intronic ENSG00000142156 NA NA NA NA NA 21q22.3 NA NA Name=22 NA rs7276098 0.89 0.89 0.884 0.830272 0.8738 0.8562 0.9193 0.7882 0.7526 0.87 0.87 0.93 0.91 0.8511 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 -0.695015 NA NA 0.856977 0.885611 NA 0.333 CLINSIG=non-pathogenic;CLNDBN=not_specified,not_provided;CLNREVSTAT=single,single;CLNACC=RCV000079769.1,RCV000079770.1;CLNDSDB=.,.;CLNDSDBID=.,. 3.418123 1318 16 56913419 56913419 C T intronic SLC12A3 NA NA NA intronic ENSG00000070915 NA NA NA NA NA 16q13 NA NA NA NA rs3816119 0.2 0.2 0.174 0.192692 0.1988 0.2589 0.2695 0.084 0.2106 0.19 0.27 0.26 0.1 0.1981 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.761872 NA NA 0.185465 0.117834 NA 0.116 NA 3.417635 1318 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 1318 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 1318 16 339415 339415 G T intronic AXIN1 NA NA NA intronic ENSG00000103126 NA NA NA NA NA 16p13.3 NA NA NA NA rs387467 0.19 0.19 0.199 0.18111 0.1948 0.0437 0.1527 0.3805 0.0593 0.19 0.06 0.15 0.4 0.1791 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.138189 NA NA 0.208721 0.329246 NA 0.232 NA 3.417379 1318 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 1318 12 2058245 2058245 T C intronic DCP1B NA NA NA intronic ENSG00000151065 NA NA NA NA NA 12p13.33 NA Name=CTCF NA NA rs2240612 0.57 0.57 0.58 0.524361 0.5477 0.7292 0.4366 0.5257 0.3497 0.54 0.74 0.47 0.52 0.516 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076116 NA NA 0.519419 0.54108 NA 0.703 NA 3.416881 1318 12 6495275 6495275 C A exonic LTBR NA synonymous SNV LTBR:NM_001270987:exon5:c.C459A:p.A153A,LTBR:NM_002342:exon5:c.C516A:p.A172A exonic ENSG00000111321 NA synonymous SNV ENSG00000111321:ENST00000541102:exon3:c.C195A:p.A65A,ENSG00000111321:ENST00000544454:exon3:c.C195A:p.A65A,ENSG00000111321:ENST00000228918:exon5:c.C516A:p.A172A,ENSG00000111321:ENST00000536876:exon5:c.C501A:p.A167A,ENSG00000111321:ENST00000539925:exon5:c.C459A:p.A153A NA NA 12p13.31 NA NA NA NA rs2364480 0.82 0.82 0.813 0.848243 0.7346 0.873 0.7954 0.9713 0.8108 0.72 0.84 0.77 0.98 0.7774 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 0.989863 NA NA 0.737791 0.933727 NA 0.746 NA 3.4168756 1318 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 1318 1 243777066 243777066 G A intronic AKT3 NA NA NA intronic ENSG00000117020 NA NA NA NA NA 1q44 NA NA NA NA rs2168812 0.24 0.24 0.229 0.2498 0.1948 0.2232 0.255 0.323 0.2311 0.18 0.22 0.24 0.33 0.2132 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.239884 3.239884 NA 0.17531 0.254113 NA 0.225 NA 3.41669 1318 16 5040717 5040717 C T intronic SEC14L5 NA NA NA intronic ENSG00000103184 NA NA NA NA NA 16p13.3 NA NA NA NA rs3743845 0.22 0.22 0.179 0.197684 0.3032 0.1954 0.2997 0.062 0.2025 0.31 0.17 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 0.471289 NA NA 0.28087 0.091393 NA 0.275 NA 3.41593 1318 12 105556485 105556485 T G intronic KIAA1033 NA NA NA intronic ENSG00000136051 NA NA NA NA NA 12q23.3 NA NA NA NA rs1373552 0.17 0.17 0.158 0.166733 0.1889 0.2589 0.2378 0.0303 0.183 0.18 0.26 0.22 0.03 0.1977 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.881361 1.881361 NA 0.197752 0.053803 NA 0.203 NA 3.415648 1318 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 1319 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 1319 1 183909934 183909934 G A intronic COLGALT2 NA NA NA intronic ENSG00000198756 NA NA NA NA NA 1q25.3 NA NA NA NA rs1887278 0.19 0.19 0.174 0.172324 0.1978 0.1776 0.245 0.0726 0.2239 0.2 0.2 0.27 0.09 0.1984 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.258022 NA NA 0.189651 0.093963 NA 0.152 NA 3.414149 1319 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 1319 17 7720858 7720858 A T intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs872345 0.21 0.21 0.216 0.240615 0.1839 0.251 0.1873 0.2194 0.3548 0.17 0.27 0.2 0.2 0.218 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.180504 NA NA 0.184186 0.217204 NA 0.159 NA 3.413914 1319 16 30718873 30718873 C T intronic SRCAP NA NA NA intronic ENSG00000080603 NA NA NA NA NA 16p11.2 NA NA NA NA rs72793372 0.1 0.1 0.092 0.0832668 0.2187 0.001 0.1427 0.0219 0.0695 0.21 NA 0.16 0.03 0.1544 0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.189871 NA NA 0.213256 0.043468 NA 0.239 NA 3.413644 1319 19 16035517 16035517 G A intronic CYP4F11 NA NA NA intronic ENSG00000171903 NA NA NA NA NA 19p13.12 NA NA NA NA rs3746156 0.53 0.53 0.499 0.528554 0.5865 0.38 0.5389 0.5734 0.5542 0.61 0.37 0.52 0.6 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 -0.170978 NA NA NA NA NA 0.536 NA 3.4135 1319 14 105350799 105350799 C T exonic CEP170B NA synonymous SNV CEP170B:NM_015005:exon8:c.C1473T:p.D491D,CEP170B:NM_001112726:exon9:c.C1683T:p.D561D exonic ENSG00000099814 NA synonymous SNV ENSG00000099814:ENST00000418279:exon8:c.C1473T:p.D491D,ENSG00000099814:ENST00000556508:exon8:c.C1473T:p.D491D,ENSG00000099814:ENST00000414716:exon9:c.C1683T:p.D561D,ENSG00000099814:ENST00000453495:exon9:c.C1686T:p.D562D NA NA 14q32.33 NA NA NA NA rs9788593 0.48 0.48 0.508 0.48722 0.7734 0.2183 0.6412 0.27 0.6544 0.76 0.2 0.65 0.27 0.6962 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 0.163483 NA NA 0.783849 0.414671 NA NA NA 3.4132176 1319 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 1319 17 7720091 7720091 G C intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs11078708 0.18 0.18 0.161 0.187899 0.1928 0.2113 0.2637 0.0552 0.2843 0.18 0.24 0.23 0.07 0.2043 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.124325 NA NA 0.19 0.07921 ID=COSN165322;OCCURENCE=1(breast) 0.145 NA 3.4129 1319 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 1319 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 1319 21 46907479 46907479 G A intronic COL18A1 NA NA NA intronic ENSG00000182871 NA NA NA NA NA 21q22.3 NA NA NA NA rs9976784 0.19 0.19 0.172 0.185703 0.1978 0.1488 0.2522 0.1974 0.1483 0.19 0.17 0.24 0.16 0.1918 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.481968 NA NA 0.198827 0.199617 NA 0.203 NA 3.411573 1319 6 32336517 32336517 A G intronic C6orf10 NA NA NA intronic ENSG00000204296 NA NA NA NA NA 6p21.32 NA NA NA NA rs6903816 0.34 0.34 NA 0.347244 0.2545 0.4157 0.2161 0.441 0.3384 0.25 0.4 0.25 0.46 0.334 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459401 NA NA NA NA NA 0.319 NA 3.4115 1319 15 42129176 42129176 T C intronic JMJD7,JMJD7-PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243789 NA NA NA NA NA 15q15.1 Score=783;Name=V$COMP1_01 NA NA NA rs890504 0.48 0.48 0.47 0.493411 0.5388 0.3026 0.5922 0.4773 0.5951 0.55 0.3 0.58 0.52 0.5218 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227569 NA NA 0.528615 0.494898 NA 0.464 NA 3.410785 1319 3 123634046 123634046 G A exonic CCDC14 NA synonymous SNV CCDC14:NM_022757:exon12:c.C2319T:p.S773S exonic ENSG00000175455 NA synonymous SNV ENSG00000175455:ENST00000419247:exon8:c.C936T:p.S312S,ENSG00000175455:ENST00000310351:exon9:c.C1962T:p.S654S,ENSG00000175455:ENST00000485727:exon9:c.C1842T:p.S614S,ENSG00000175455:ENST00000489746:exon9:c.C1842T:p.S614S,ENSG00000175455:ENST00000433542:exon12:c.C2319T:p.S773S,ENSG00000175455:ENST00000409697:exon13:c.C2385T:p.S795S,ENSG00000175455:ENST00000488653:exon13:c.C2442T:p.S814S NA NA 3q21.1 NA NA NA NA rs2700373 0.84 0.84 0.86 0.842452 0.7137 0.8859 0.8689 0.9539 0.7607 0.7 0.91 0.87 0.95 0.7938 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 -1.727451 NA NA 0.748605 0.924875 NA 0.826 NA 3.4105616 1319 5 96237413 96237413 C T intronic ERAP2 NA NA NA intronic ENSG00000164308 NA NA NA NA NA 5q15 NA Name=CTCF,NFKB NA NA rs171647 0.55 0.55 0.532 0.552915 0.5199 0.5278 0.5793 0.6021 0.5276 0.52 0.58 0.59 0.55 0.5489 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.398955 NA NA 0.520814 0.578302 NA 0.659 NA 3.410386 1319 19 46815705 46815705 A C intronic HIF3A NA NA NA intronic ENSG00000124440 NA NA NA NA NA 19q13.32 NA NA NA NA rs3752207 NA NA 0.873 0.854832 0.9284 0.8175 0.8314 0.8374 0.8579 NA NA NA NA 0.7501 0.91 0.57 T 0.0 B 0.0 B . . 1.000 P . . . . -1.008 T 0.000 T . -0.543 1.535 2.55 0.659 0.273 6.751 -0.543221 NA NA 0.911196 0.852299 NA 0.645 NA 3.410304 1319 16 14026007 14026007 G A intronic ERCC4 NA NA NA ncRNA_exonic ENSG00000262732 NA NA NA NA NA 16p13.12 NA Name=USF-1,USF1_(SC-8983) Name=5 NA rs254942 0.93 0.93 0.929 0.946486 0.9781 0.7847 0.9899 0.997 0.9816 0.97 0.78 0.99 1 0.9661 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.291005 NA NA 0.978953 0.995676 NA 0.884 NA 3.4101803 1319 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 1319 2 136622543 136622543 T G intronic MCM6 NA NA NA intronic ENSG00000076003 NA NA NA NA NA 2q21.3 NA NA NA NA rs3087343 0.2 0.2 0.196 0.217851 0.2217 0.2123 0.2104 0.174 0.2843 0.22 0.17 0.23 0.19 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 1.870881 1.870881 NA 0.18 0.142533 NA 0.174 NA 3.41 1319 14 22891883 22891883 G C intergenic OR4E2,DAD1 dist=757645;dist=141924 NA NA exonic ENSG00000211821 NA nonsynonymous SNV ENSG00000211821:ENST00000390469:exon2:c.G195C:p.M65I NA NA 14q11.2 NA NA NA NA rs2072616 0.45 0.45 0.436 0.467252 0.4493 0.6885 0.3314 0.2489 0.6493 0.45 0.68 0.38 0.26 0.4857 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.117119 NA 0.4 0.488592 0.291514 NA 0.42 NA 3.4097414 1319 5 135178081 135178081 T C intronic SLC25A48 NA NA NA intronic ENSG00000145832 NA NA NA NA NA 5q31.1 NA NA NA NA rs6596269 0.15 0.15 0.15 0.137979 0.2117 0.0099 0.1225 0.208 0.1104 0.21 0.01 0.14 0.22 0.1714 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.792203 NA NA 0.207349 0.170269 NA 0.13 NA 3.409551 1319 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 1319 17 28890203 28890203 T C intronic TBC1D29 NA NA NA intronic ENSG00000266733 NA NA NA Score=374;Name=lod=44 NA 17q11.2 NA NA NA NA rs216455 0.57 0.57 0.535 0.561901 0.5089 0.7629 0.5029 0.4811 0.5603 0.52 0.76 0.49 0.48 0.5761 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 -0.67787 NA NA 0.505699 0.446842 NA 0.565 NA 3.409301 1319 20 43058096 43058096 C G intronic HNF4A NA NA NA intronic ENSG00000101076 NA NA NA NA NA 20q13.12 NA NA NA NA rs3746575 0.51 0.51 0.467 0.498802 0.5915 0.3413 0.4683 0.5061 0.5777 0.61 0.38 0.49 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 0.521481 NA NA NA NA NA 0.587 NA 3.4085 1319 7 95709666 95709666 C A intronic DYNC1I1 NA NA NA intronic ENSG00000158560 NA NA NA NA NA 7q21.3 Score=873;Name=V$NF1_Q6 NA NA NA rs42082 0.48 0.48 0.448 0.436502 0.5636 0.5466 0.4625 0.27 0.3988 0.57 0.53 0.47 0.31 0.4897 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.922527 NA NA 0.538256 0.314571 NA 0.449 NA 3.408444 1319 17 3935370 3935370 G C intronic ZZEF1 NA NA NA intronic ENSG00000074755 NA NA NA NA NA 17p13.2 NA NA NA NA rs968114 0.17 0.17 0.179 0.164337 0.2038 0.0714 0.1988 0.174 0.182 0.22 0.06 0.21 0.19 0.1887 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220397 NA NA 0.19907 0.170449 NA 0.203 NA 3.40843 1319 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 1319 6 33037690 33037690 C T intronic HLA-DPA1 NA NA NA intronic ENSG00000231389 NA NA NA NA NA 6p21.32 NA NA NA NA rs66799959 0.39 0.39 0.384 0.429912 0.1879 0.6508 0.2752 0.5772 0.362 0.17 0.62 0.23 0.56 0.2305 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.935212 NA NA 0.173496 0.441976 NA 0.355 NA 3.408104 1319 14 74420127 74420127 C T intronic COQ6 NA NA NA intronic ENSG00000119723 NA NA NA NA NA 14q24.3 NA NA NA NA rs3213692 0.27 0.27 0.244 0.289337 0.167 0.3929 0.2968 0.3154 0.2679 0.16 0.39 0.25 0.29 0.2371 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.016921 NA NA 0.188023 0.282796 NA 0.167 NA 3.407877 1319 13 103468958 103468958 G A intronic BIVM,BIVM-ERCC5 NA NA NA intronic ENSG00000134897,ENSG00000270181 NA NA NA NA NA 13q33.1 NA NA NA NA rs7320687 0.29 0.29 0.273 0.311502 0.2734 0.3353 0.389 0.239 0.3691 0.29 0.31 0.35 0.24 0.3188 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018704 NA NA NA NA NA 0.283 NA 3.4078 1319 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 1319 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 1319 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 1319 6 70962039 70962039 C T intronic COL9A1 NA NA NA intronic ENSG00000112280 NA NA NA NA NA 6q13 NA NA NA NA rs2274584 0.17 0.17 0.176 0.173323 0.2147 0.1518 0.0994 0.1815 0.1943 0.2 0.15 0.12 0.19 0.1864 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.823048 NA NA 0.192326 0.181571 NA 0.174 NA 3.406574 1319 16 4253131 4253131 G A intronic SRL NA NA NA intronic ENSG00000185739 NA NA NA NA NA 16p13.3 NA NA NA NA rs35383355 0.16 0.16 0.183 0.188898 0.2157 0.001 0.2061 0.3986 0.0593 0.17 NA 0.18 0.31 0.18 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474257 NA NA 0.197947 0.334223 NA NA NA 3.406353 1319 19 54783521 54783521 C T intronic LILRB2 NA NA NA intronic ENSG00000131042 NA NA NA NA NA 19q13.42 NA NA NA NA rs383925 0.34 0.34 0.267 0.251398 0.174 0.6032 0.2392 0.1233 0.1503 0.18 0.75 0.26 0.14 0.2386 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 0.497205 NA NA 0.181279 0.152292 NA 0.21 NA 3.406121 1319 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 1319 1 202266607 202266607 C T intronic LGR6 NA NA NA intronic ENSG00000133067 NA NA NA NA NA 1q32.1 NA NA Name=4 NA rs788826 0.55 0.55 0.511 0.545927 0.5457 0.7222 0.6455 0.3018 0.6237 0.56 0.7 0.61 0.31 0.5466 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 -1.197068 NA NA 0.501977 0.341807 NA 0.543 NA 3.405723 1319 19 17367585 17367585 G C intronic USHBP1 NA NA NA intronic ENSG00000130307 NA NA NA NA NA 19p13.11 NA NA NA NA rs4464206 0.77 0.77 0.778 0.784944 0.5944 0.8641 0.7795 0.9297 0.7076 0.59 0.87 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 -0.223136 NA NA NA NA NA 0.826 NA 3.4056 1319 6 36990184 36990184 T C intronic FGD2 NA NA NA intronic ENSG00000146192 NA NA NA NA NA 6p21.2 NA NA NA NA rs62406537 0.12 0.12 0.112 0.0922524 0.2296 0.004 0.1513 0.0446 0.0644 0.23 0.0035 0.16 0.05 0.1581 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.006499 NA NA 0.207025 0.078529 NA 0.181 NA 3.405275 1319 6 144086394 144086394 G A intronic PHACTR2 NA NA NA intronic ENSG00000112419 NA NA NA Score=440;Name=lod=82 NA 6q24.2 NA NA NA NA rs9496767 0.5 0.5 0.46 0.485623 0.5497 0.4633 0.5504 0.3888 0.5276 0.55 0.46 0.54 0.42 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 1.822614 1.822614 NA 0.526688 0.404364 NA 0.493 NA 3.405212 1319 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 1320 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 1320 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 1320 11 7670752 7670752 T G intronic PPFIBP2 NA NA NA intronic ENSG00000166387 NA NA NA NA NA 11p15.4 NA NA NA NA rs11607941 0.21 0.21 0.217 0.241214 0.1968 0.1369 0.147 0.4266 0.2106 0.17 0.14 0.15 0.42 0.2047 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.107372 3.107372 NA 0.19425 0.397319 NA 0.145 NA 3.40425 1320 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 1320 2 182347072 182347072 T C intronic ITGA4 NA NA NA intronic ENSG00000115232 NA NA NA NA NA 2q31.3 NA NA NA NA rs2305588 0.14 0.14 0.124 0.134185 0.2028 0.1369 0.1383 0.0681 0.1472 0.2 0.12 0.15 0.07 0.1908 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.927906 1.927906 NA 0.202363 0.097315 NA 0.087 NA 3.404037 1320 3 20161043 20161043 G T intronic KAT2B NA NA NA intronic ENSG00000114166 NA NA NA NA NA 3p24.3 NA NA NA NA rs17006623 0.13 0.13 0.145 0.117212 0.2107 0.002 0.1167 0.1505 0.0951 0.21 0.0035 0.12 0.16 0.1655 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.910813 NA NA 0.219884 0.152973 NA 0.159 NA 3.403916 1320 3 126751478 126751478 C T intronic PLXNA1 NA NA NA intronic ENSG00000114554 NA NA NA NA NA 3q21.3 NA NA NA NA rs9840115 0.19 0.19 0.17 0.193291 0.2167 0.0665 0.1311 0.3563 0.1237 0.22 0.06 0.12 0.36 0.1801 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.058123 NA NA 0.199511 0.316076 NA 0.246 NA 3.403689 1320 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 1320 17 27437134 27437134 A G intronic MYO18A NA NA NA intronic ENSG00000196535 NA NA NA NA NA 17q11.2 NA NA Name=5 NA rs2279958 0.66 0.66 0.659 0.684305 0.5169 0.9127 0.487 0.7398 0.6861 0.51 0.9 0.48 0.73 0.5693 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 0.824314 NA NA 0.510495 0.716839 NA 0.746 NA 3.403305 1320 12 111317904 111317904 T C intronic CCDC63 NA NA NA intronic ENSG00000173093 NA NA NA NA NA 12q24.11 NA NA NA NA rs35762292 0.17 0.17 0.151 0.159145 0.2147 0.002 0.2939 0.2474 0.0491 0.2 NA 0.25 0.25 0.1737 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085036 NA NA 0.208372 0.236269 NA 0.217 NA 3.403228 1320 19 6374813 6374813 T C intronic ALKBH7 NA NA NA intronic ENSG00000125652 NA NA NA NA NA 19p13.3 NA NA NA NA rs10421175 0.4 0.4 0.41 0.440895 0.1789 0.3929 0.2032 0.8744 0.3425 0.16 0.42 0.19 0.89 0.256 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 1.018663 NA NA 0.162093 0.757149 NA 0.399 NA 3.403007 1320 1 12639018 12639018 C T intronic DHRS3 NA NA NA intronic ENSG00000162496 NA NA NA NA NA 1p36.22 NA Name=Pol2 NA NA rs2275874 0.38 0.38 0.369 0.391374 0.5239 0.3591 0.4856 0.1036 0.6104 0.5 0.37 0.49 0.12 0.5308 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213579 NA NA 0.542907 0.174762 NA 0.312 NA 3.402393 1320 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 1320 8 22438859 22438859 C G intronic PDLIM2 NA NA NA intronic ENSG00000120913 NA NA NA NA NA 8p21.3 NA NA NA NA rs34457441 0.11 0.11 0.088 0.104034 0.1879 0.0317 0.134 0.062 0.1278 0.2 0.03 0.12 0.06 0.2415 0.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.406062 NA NA 0.168457 0.077116 NA 0.101 NA 3.402143 1320 5 176316344 176316344 G A intronic HK3 NA NA NA intronic ENSG00000160883 NA NA NA NA NA 5q35.2 NA NA NA NA rs691044 0.1 0.1 0.096 0.0746805 0.2276 NA 0.1124 0.0098 0.0552 0.22 0.01 0.13 0.02 0.1573 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.056833 NA NA 0.213372 0.037449 NA 0.051 NA 3.401728 1320 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 1320 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 1320 1 22922546 22922546 G A intronic EPHA8 NA NA NA intronic ENSG00000070886 NA NA NA NA NA 1p36.12 NA NA NA NA rs209692 0.35 0.35 0.346 0.36881 0.3082 0.2411 0.4337 0.4713 0.3783 0.31 0.25 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 0.480339 NA NA 0.291012 0.455202 NA 0.362 NA 3.400788 1320 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 1320 16 23713395 23713395 C T intronic ERN2 NA NA NA intronic ENSG00000134398 NA NA NA NA NA 16p12.2 NA NA NA NA rs8058610 0.57 0.57 0.568 0.53734 0.5994 0.6974 0.5778 0.2496 0.6687 0.61 0.74 0.61 0.28 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 0.198059 NA NA NA NA NA 0.507 NA 3.4006 1320 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 1320 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 1320 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 1320 3 39180099 39180099 T C exonic TTC21A NA synonymous SNV TTC21A:NM_001105513:exon27:c.T3726C:p.I1242I,TTC21A:NM_145755:exon28:c.T3870C:p.I1290I exonic ENSG00000168026 NA synonymous SNV ENSG00000168026:ENST00000440121:exon27:c.T3726C:p.I1242I,ENSG00000168026:ENST00000301819:exon28:c.T3873C:p.I1291I,ENSG00000168026:ENST00000431162:exon28:c.T3870C:p.I1290I NA NA 3p22.2 NA NA NA NA rs784498 0.7 0.7 0.669 0.706869 0.7654 0.7669 0.7435 0.5189 0.8129 0.77 0.76 0.73 0.51 0.7502 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 -0.459846 NA NA 0.751261 0.606627 NA 0.688 NA 3.3998056 1320 2 98392302 98392302 G A intronic TMEM131 NA NA NA intronic ENSG00000075568 NA NA NA NA NA 2q11.2 NA NA NA NA rs17489259 0.11 0.11 0.112 0.081869 0.2227 NA 0.1686 0.0098 0.0573 0.21 NA 0.2 0.01 0.1535 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.478867 NA NA 0.224055 0.045613 NA 0.239 NA 3.399745 1320 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 1320 6 31236998 31236998 C T intronic HLA-C NA NA NA intronic ENSG00000204525 NA NA NA NA NA 6p21.33 NA Name=Pol2-4H8 Name=3 NA rs2001181 0.87 0.87 0.84 0.889177 0.8787 0.8294 0.9035 0.9501 0.8691 0.87 0.81 0.88 0.95 0.864 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 -0.623871 NA NA 0.85825 0.929517 NA 0.826 NA 3.39905 1320 9 123737040 123737040 G C intronic C5 NA NA NA intronic ENSG00000106804 NA NA NA NA NA 9q33.2 NA NA NA NA rs2269067 0.28 0.28 0.291 0.305711 0.1899 0.2431 0.1383 0.649 0.1442 0.18 0.21 0.14 0.61 0.2164 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.028338 NA NA 0.194884 0.573763 NA 0.377 NA 3.398816 1320 8 62556590 62556590 C T intronic ASPH NA NA NA intronic ENSG00000198363 NA NA NA NA NA 8q12.3 NA NA NA NA rs7825861 0.18 0.18 0.174 0.223043 0.1869 0.2093 0.1758 0.1679 0.3824 0.18 0.23 0.18 0.15 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 -0.198192 NA NA 0.183892 0.161144 NA 0.268 NA 3.398508 1320 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 1320 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 1320 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 1320 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 1320 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 1320 16 4253130 4253130 C T intronic SRL NA NA NA intronic ENSG00000185739 NA NA NA NA NA 16p13.3 NA NA NA NA rs56280975 0.15 0.15 0.181 0.190695 0.2207 0.001 0.2118 0.3986 0.0593 0.17 NA 0.17 0.27 0.1822 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645708 NA NA 0.200095 0.333333 NA NA NA 3.397005 1320 12 104149022 104149022 G A intronic STAB2 NA NA NA ncRNA_intronic ENSG00000257681 NA NA NA NA NA 12q23.3 NA NA NA NA rs11111748 0.97 0.97 0.969 0.974042 0.9364 1 0.9798 0.9864 0.9652 0.93 1 0.99 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 1.282441 1.282441 NA NA NA NA 0.971 NA 3.3969333 1320 1 200558363 200558363 T C exonic KIF14 NA synonymous SNV KIF14:NM_014875:exon18:c.A3096G:p.E1032E exonic ENSG00000118193 NA synonymous SNV ENSG00000118193:ENST00000367350:exon18:c.A3096G:p.E1032E NA NA 1q32.1 NA NA NA NA rs6665951 0.76 0.76 0.752 0.766573 0.7475 0.6875 0.67 0.9032 0.7515 0.76 0.66 0.7 0.91 0.7515 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 -0.909794 NA NA 0.770814 0.876703 NA 0.703 NA 3.3968526 1320 20 23065342 23065342 A G exonic CD93 NA synonymous SNV CD93:NM_012072:exon1:c.T1488C:p.R496R exonic ENSG00000125810 NA synonymous SNV ENSG00000125810:ENST00000246006:exon1:c.T1488C:p.R496R NA NA 20p11.21 NA NA NA NA rs3746732 0.77 0.77 0.738 0.779752 0.7435 0.8036 0.8156 0.7731 0.7761 0.73 0.83 0.81 0.74 0.7716 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 0.398036 NA NA 0.755059 0.750682 NA 0.761 NA 3.3965076 1320 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 1320 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 1320 4 88732531 88732531 T C exonic IBSP NA synonymous SNV IBSP:NM_004967:exon7:c.T423C:p.N141N exonic ENSG00000029559 NA synonymous SNV ENSG00000029559:ENST00000226284:exon7:c.T423C:p.N141N NA NA 4q22.1 NA NA NA NA rs4693878 0.74 0.74 0.774 0.742212 0.7604 0.5942 0.7305 0.913 0.6534 0.74 0.59 0.76 0.91 0.7438 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 -0.39008 NA NA 0.766395 0.891285 ID=COSM1431635;OCCURENCE=1(large_intestine) 0.855 NA 3.3960716 1320 10 70266523 70266523 C T intronic SLC25A16 NA NA NA intronic ENSG00000122912 NA NA NA NA NA 10q21.3 NA NA NA NA rs2275715 0.23 0.23 0.209 0.289337 0.1809 0.1458 0.3948 0.3487 0.3937 0.18 0.16 0.32 0.34 0.2465 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.242898 NA NA 0.176751 0.338871 NA 0.203 NA 3.395849 1320 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 1320 19 45024581 45024581 C G exonic CEACAM20 NA synonymous SNV CEACAM20:NM_001102597:exon5:c.G957C:p.T319T,CEACAM20:NM_001102598:exon5:c.G957C:p.T319T,CEACAM20:NM_001102599:exon5:c.G957C:p.T319T,CEACAM20:NM_001102600:exon5:c.G957C:p.T319T ncRNA_exonic ENSG00000176395 NA NA NA NA NA 19q13.31 NA NA NA NA rs12982449 0.39 0.39 0.354 0.373403 0.6392 0.2698 0.4265 0.1392 0.4857 0.64 0.26 0.45 0.13 0.5163 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224111 NA NA 0.616024 0.22655 NA 0.428 NA 3.3951426 1320 16 69970329 69970329 A G exonic WWP2 NA synonymous SNV WWP2:NM_199424:exon9:c.A774G:p.T258T,WWP2:NM_001270453:exon16:c.A1743G:p.T581T,WWP2:NM_001270454:exon19:c.A2091G:p.T697T,WWP2:NM_007014:exon20:c.A2091G:p.T697T exonic ENSG00000198373 NA synonymous SNV ENSG00000198373:ENST00000568684:exon9:c.A774G:p.T258T,ENSG00000198373:ENST00000542271:exon16:c.A1743G:p.T581T,ENSG00000198373:ENST00000356003:exon18:c.A2091G:p.T697T,ENSG00000198373:ENST00000359154:exon19:c.A2091G:p.T697T,ENSG00000198373:ENST00000448661:exon19:c.A2091G:p.T697T NA NA 16q22.1 NA NA NA NA rs1983016 0.84 0.84 0.841 0.845447 0.7515 0.9663 0.7565 0.907 0.7975 0.73 0.96 0.79 0.89 0.7753 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 0.130034 NA NA 0.744767 0.863057 ID=COSM435643;OCCURENCE=2(breast) 0.833 NA 3.3950996 1321 6 31118565 31118565 C G exonic CCHCR1 NA synonymous SNV CCHCR1:NM_001105563:exon6:c.G930C:p.V310V,CCHCR1:NM_001105564:exon6:c.G1038C:p.V346V,CCHCR1:NM_019052:exon6:c.G771C:p.V257V exonic ENSG00000204536 NA synonymous SNV ENSG00000204536:ENST00000376266:exon6:c.G771C:p.V257V,ENSG00000204536:ENST00000396263:exon6:c.G771C:p.V257V,ENSG00000204536:ENST00000396268:exon6:c.G1038C:p.V346V,ENSG00000204536:ENST00000451521:exon6:c.G930C:p.V310V NA NA 6p21.33 NA NA NA NA rs130078 0.74 0.74 0.732 0.730032 0.7813 0.6756 0.804 0.7292 0.682 0.77 0.63 0.82 0.75 0.7423 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 -0.859713 NA NA 0.748247 0.752151 NA 0.754 NA 3.3948196 1321 18 28968371 28968371 G A exonic DSG4 NA synonymous SNV DSG4:NM_001134453:exon4:c.G258A:p.R86R,DSG4:NM_177986:exon4:c.G258A:p.R86R exonic ENSG00000175065 NA synonymous SNV ENSG00000175065:ENST00000308128:exon4:c.G258A:p.R86R,ENSG00000175065:ENST00000359747:exon4:c.G258A:p.R86R NA NA 18q12.1 NA NA NA NA rs16959856 0.77 0.77 0.747 0.720647 0.7644 0.8839 0.8617 0.5257 0.6708 0.76 0.92 0.86 0.55 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 -0.847235 NA NA 0.762619 0.561053 NA 0.768 NA 3.3943476 1321 8 133985019 133985019 G A intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA NA NA NA rs1403488 0.11 0.11 0.101 0.0944489 0.2167 NA 0.1542 0.0401 0.0971 0.21 NA 0.19 0.04 0.1645 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.051949 NA NA 0.225116 0.068997 NA 0.145 NA 3.393684 1321 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 1321 11 8946950 8946950 G T intronic C11orf16 NA NA NA intronic ENSG00000176029 NA NA NA NA NA 11p15.4 NA NA NA NA rs3751068 0.6 0.6 0.568 0.561901 0.6064 0.7093 0.6945 0.4009 0.4877 0.6 0.75 0.64 0.39 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 0.704401 NA NA NA NA NA 0.529 NA 3.3936 1321 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 1321 1 71331498 71331498 A G intronic PTGER3 NA NA NA exonic ENSG00000050628 NA nonsynonymous SNV ENSG00000050628:ENST00000497146:exon4:c.T1123C:p.S375P NA NA 1p31.1 NA NA NA NA rs1409986 0.96 0.96 0.962 0.973442 0.9155 1 0.9654 0.9932 0.9847 0.91 1 0.95 0.99 0.9413 1 0.34 T . . . . . . 1.000 P . . . . -1.007 T 0.026 T 0.013 0.063 4.342 0.326 -0.197 -0.108 2.217 0.062947 NA 0.37 0.91686 0.98434 NA 0.978 NA 3.3930067 1321 6 33037675 33037675 C A intronic HLA-DPA1 NA NA NA intronic ENSG00000231389 NA NA NA NA NA 6p21.32 NA NA NA NA rs10214910 0.43 0.43 0.43 0.480032 0.1869 0.6796 0.2954 0.7307 0.3681 0.17 0.65 0.26 0.73 0.2487 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 1.22649 NA NA 0.171465 0.543075 NA 0.406 NA 3.392935 1321 3 36484823 36484823 C T intronic STAC NA NA NA intronic ENSG00000144681 NA NA NA NA NA 3p22.3 NA NA NA NA rs3749279 0.2 0.2 0.178 0.171126 0.2018 0.1806 0.2622 0.0968 0.1656 0.22 0.2 0.25 0.12 0.2018 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.309222 NA NA 0.203721 0.133908 NA 0.116 NA 3.392679 1321 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 1321 11 212408 212408 C T intronic RIC8A NA NA NA intronic ENSG00000177963 NA NA NA NA NA 11p15.5 NA NA NA NA rs72878032 0.12 0.12 0.091 0.0922524 0.2137 0.002 0.2089 0.0318 0.0593 0.23 0.0017 0.21 0.02 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 -1.141081 NA NA 0.206512 0.065622 NA 0.138 NA 3.391888 1321 19 41356281 41356281 T C exonic CYP2A6 NA synonymous SNV CYP2A6:NM_000762:exon1:c.A51G:p.V17V exonic ENSG00000255974 NA synonymous SNV ENSG00000255974:ENST00000301141:exon1:c.A51G:p.V17V,ENSG00000255974:ENST00000600495:exon1:c.A51G:p.V17V NA NA 19q13.2 NA NA NA NA rs1137115 0.79 0.79 0.764 0.760583 0.7724 0.7867 0.8127 0.7769 0.6626 0.77 0.8 0.79 0.8 0.7537 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 0.031277 NA NA 0.748837 0.776441 NA 0.797 NA 3.3917296 1321 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 1321 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 1321 2 179642425 179642425 G A intronic TTN NA NA NA ncRNA_exonic ENSG00000266413 NA NA NA NA NA 2q31.2 NA NA Name=8 NA rs719201 0.91 0.91 0.898 0.911542 0.992 0.8829 0.9467 0.8185 0.9591 0.99 0.87 0.94 0.83 0.9588 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 -0.050217 NA NA 0.991395 0.858829 NA 0.913 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040333.3|RCV000126016.1;CLNDSDB=.|.;CLNDSDBID=.|. 3.3911383 1321 2 234368821 234368821 T C intronic DGKD NA NA NA intronic ENSG00000077044 NA NA NA NA NA 2q37.1 NA NA NA NA rs2290464 0.29 0.29 0.3 0.356829 0.1968 0.1885 0.196 0.7481 0.2802 0.19 0.16 0.18 0.7 0.2324 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 -1.304175 NA NA 0.180233 0.631866 NA 0.464 NA 3.390567 1321 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 1321 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 1321 11 36103381 36103381 A G intronic LDLRAD3 NA NA NA intronic ENSG00000179241 NA NA NA NA NA 11p13 NA NA NA NA rs3740962 0.51 0.51 0.463 0.484425 0.6103 0.6339 0.5187 0.1732 0.5971 0.62 0.64 0.54 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 -0.954612 NA NA NA NA NA 0.478 NA 3.3897 1321 17 64881075 64881075 A G intronic CACNG5 NA NA NA exonic ENSG00000075429 NA synonymous SNV ENSG00000075429:ENST00000169565:exon4:c.A867G:p.P289P NA NA 17q24.2 NA NA NA NA rs2286678 0.51 0.51 0.514 0.52516 0.4821 0.4474 0.3473 0.8003 0.4039 0.47 0.41 0.4 0.78 0.477 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 -0.124182 NA NA 0.484535 0.748752 NA 0.529 NA 3.3896983 1321 4 154633734 154633734 G C intronic RNF175 NA NA NA intronic ENSG00000145428 NA NA NA NA NA 4q31.3 NA NA NA NA rs2289318 0.21 0.21 0.2 0.213059 0.1829 0.2381 0.2118 0.2315 0.1943 0.19 0.24 0.21 0.2 0.2325 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.770307 NA NA 0.195239 0.205403 NA 0.283 NA 3.389361 1321 1 240656797 240656797 G A intronic GREM2 NA NA NA intronic ENSG00000180875 NA NA NA NA NA 1q43 NA NA NA NA rs11806449 0.2 0.2 0.17 0.203075 0.1819 0.3214 0.1599 0.053 0.3364 0.18 0.4 0.14 0.05 0.238 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.083711 NA NA 0.19111 0.057512 NA 0.203 NA 3.38899 1321 17 77043574 77043574 T C intronic C1QTNF1 NA NA NA intronic ENSG00000173918 NA NA NA NA NA 17q25.3 NA NA NA NA rs11077410 0.33 0.33 0.292 0.361022 0.174 0.5724 0.3934 0.3419 0.3384 0.17 0.56 0.34 0.29 0.2665 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234846 NA NA 0.170664 0.295304 NA 0.275 NA 3.388836 1321 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 1321 1 20304857 20304857 G A intronic PLA2G2A NA NA NA intronic ENSG00000188257 NA NA NA NA NA 1p36.13 NA NA NA NA rs2307246 0.13 0.13 0.116 0.105831 0.2087 0.0278 0.1052 0.0953 0.0951 0.21 0.03 0.12 0.12 0.186 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329575 NA NA 0.216628 0.103949 NA 0.101 NA 3.388672 1321 7 135322853 135322853 T C intronic NUP205 NA NA NA intronic ENSG00000155561 NA NA NA NA NA 7q33 NA NA NA NA rs7799891 0.24 0.24 0.23 0.254193 0.1978 0.2579 0.196 0.2496 0.3558 0.2 0.26 0.21 0.27 0.2265 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514668 NA NA 0.187442 0.248071 NA 0.217 NA 3.388258 1321 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 1321 7 45010371 45010371 C G intronic MYO1G NA NA NA intronic ENSG00000136286 NA NA NA NA NA 7p13 NA NA NA NA rs62461372 0.15 0.15 0.112 0.114617 0.2266 0.0952 0.1715 0.0499 0.0665 0.24 0.09 0.19 0.04 0.1751 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.767033 NA NA 0.210581 0.071947 NA 0.087 NA 3.387719 1321 11 68566650 68566650 A C intronic CPT1A NA NA NA intronic ENSG00000110090 NA NA NA NA NA 11q13.3 NA NA NA NA rs61887063 NA NA NA 0.563099 0.6123 0.5992 0.5937 0.5061 0.5307 NA NA NA NA 0.00005266 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.329097 NA NA NA NA NA NA NA 3.3876473 1321 21 40590624 40590624 A C intronic BRWD1 NA NA NA ncRNA_intronic ENSG00000237373 NA NA NA NA NA 21q22.2 NA NA NA NA rs35571600 0.22 0.22 0.201 0.212859 0.3141 0.0367 0.219 0.2943 0.1759 0.31 0.03 0.25 0.28 0.304 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.175538 NA NA 0.327743 0.28347 NA 0.275 NA 3.3874903 1321 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 1321 15 42276176 42276176 T C intronic PLA2G4E NA NA NA ncRNA_intronic ENSG00000246740 NA NA NA NA NA 15q15.1 NA NA NA NA rs1704348 0.38 0.38 0.386 0.451478 0.2833 0.2927 0.255 0.7549 0.5174 0.29 0.28 0.25 0.73 0.395 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 0.62391 NA NA 0.267785 0.631063 NA 0.413 NA 3.3872483 1321 2 61450454 61450454 A G intronic USP34 NA NA NA intronic ENSG00000115464 NA NA NA Score=607;Name=lod=392 NA 2p15 NA NA NA NA rs2123111 0.54 0.54 0.529 0.579073 0.5219 0.6141 0.5865 0.4781 0.7331 0.51 0.63 0.54 0.48 0.5656 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.707175 3.707175 NA 0.52544 0.484658 NA 0.543 NA 3.38706 1321 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 1321 3 121186543 121186543 A G intronic POLQ NA NA NA intronic ENSG00000051341 NA NA NA NA NA 3q13.33 NA NA NA NA rs1381058 0.65 0.65 0.641 0.679113 0.6133 0.876 0.6225 0.4834 0.8487 0.61 0.89 0.61 0.46 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 1.490579 1.490579 NA NA NA NA 0.594 NA 3.3867 1321 11 68566649 68566649 A G intronic CPT1A NA NA NA intronic ENSG00000110090 NA NA NA NA NA 11q13.3 NA NA NA NA rs61887062 NA NA NA 0.563099 0.6123 0.5992 0.5937 0.5061 0.5307 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 0.463343 NA NA NA NA NA NA NA 3.3867 1321 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 1321 1 55074922 55074922 G A UTR3 ACOT11,FAM151A NM_147161:c.*137G>A;NM_176782:c.*19C>T NA NA UTR3 ENSG00000162390,ENSG00000162391 ENST00000343744:c.*137G>A;ENST00000371304:c.*19C>T,ENST00000302250:c.*19C>T NA NA NA NA 1p32.3 NA NA NA NA rs2289016 0.27 0.27 0.234 0.243211 0.3062 0.3512 0.2983 0.0613 0.274 0.31 0.36 0.28 0.1 0.3065 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.705926 NA NA 0.334186 0.107581 NA 0.21 NA 3.3864474 1321 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 1321 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 1321 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 1321 19 41206208 41206208 A G intronic ADCK4 NA NA NA intronic ENSG00000123815 NA NA NA NA NA 19q13.2 NA Name=Pol2 NA NA rs2246095 0.55 0.55 0.541 0.53754 0.5417 0.5188 0.3833 0.6725 0.4796 0.53 0.52 0.43 0.7 0.526 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 -0.355093 NA NA 0.546395 0.642987 NA 0.514 NA 3.385905 1321 2 239040187 239040187 T C exonic ESPNL NA synonymous SNV ESPNL:NM_194312:exon9:c.T2832C:p.G944G exonic ENSG00000144488 NA synonymous SNV ENSG00000144488:ENST00000409506:exon4:c.T1728C:p.G576G,ENSG00000144488:ENST00000409169:exon8:c.T2700C:p.G900G,ENSG00000144488:ENST00000343063:exon9:c.T2832C:p.G944G NA NA 2q37.3 NA NA NA NA rs12692215 0.85 0.85 0.822 0.865016 0.7326 0.9286 0.7997 0.9788 0.8282 0.72 0.92 0.81 0.97 0.7989 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 -1.191478 NA NA 0.749417 0.947129 NA 0.565 NA 3.3857496 1321 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 1321 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 1321 3 129120743 129120743 A G intronic EFCAB12 NA NA NA intronic ENSG00000172771 NA NA NA NA NA 3q21.3 NA NA NA NA rs6764765 0.39 0.39 0.398 0.442292 0.174 0.6052 0.2767 0.621 0.4264 0.16 0.59 0.27 0.59 0.2677 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.578445 NA NA 0.172785 0.525641 NA 0.536 NA 3.385515 1321 3 107937544 107937544 C T intronic IFT57 NA NA NA intronic ENSG00000114446 NA NA NA NA NA 3q13.13 NA NA NA NA rs2305447 0.13 0.13 0.1 0.125 0.2177 0.0357 0.2478 0.0098 0.1902 0.23 0.05 0.19 0.02 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 0.017578 NA NA 0.204895 0.038073 NA 0.094 NA 3.385505 1322 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 1322 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 1322 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 1322 9 136289374 136289374 T C intronic ADAMTS13 NA NA NA intronic ENSG00000160323 NA NA NA NA NA 9q34.2 NA NA NA NA rs2285489 0.73 0.73 0.737 0.708067 0.6163 0.8552 0.6369 0.8086 0.5654 0.61 0.87 0.65 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 -0.483198 NA NA NA NA NA 0.681 NA 3.3837 1322 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 1322 2 71211417 71211417 C G intronic ANKRD53 NA NA NA intronic ENSG00000144031,ENSG00000258881 NA NA NA NA NA 2p13.3 NA NA NA NA rs72832792 0.17 0.17 0.165 0.146765 0.2276 0.1607 0.1268 0.1278 0.089 0.22 0.18 0.13 0.11 0.1736 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059717 NA NA 0.215116 0.144803 NA 0.203 NA 3.383684 1322 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 1322 10 102296461 102296461 C T intronic HIF1AN NA NA NA intronic ENSG00000166135 NA NA NA NA NA 10q24.31 NA NA NA NA rs10883509 0.18 0.18 0.172 0.180911 0.1899 0.131 0.1787 0.1861 0.2178 0.21 0.16 0.19 0.14 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 -0.050024 NA NA 0.218008 0.189968 NA 0.101 NA 3.382992 1322 10 50953830 50953830 G A intronic OGDHL NA NA NA intronic ENSG00000197444 NA NA NA NA NA 10q11.23 NA NA NA NA rs7910114 0.22 0.22 0.235 0.246805 0.2087 0.0278 0.2839 0.4289 0.2393 0.21 0.04 0.26 0.43 0.2168 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23596 NA NA 0.191512 0.398774 NA 0.246 NA 3.382988 1322 1 985266 985266 C T intronic AGRN NA NA NA intronic ENSG00000188157 NA NA NA NA NA 1p36.33 NA Name=CTCF NA NA rs2275813 0.53 0.53 0.467 0.495208 0.5457 0.8155 0.6398 0.1021 0.5419 0.55 0.8 0.61 0.1 0.5436 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 -2.37315 NA NA 0.527791 0.158436 NA 0.442 NA 3.382909 1322 20 3721456 3721456 C T intronic HSPA12B NA NA NA intronic ENSG00000132622 NA NA NA NA NA 20p13 NA NA NA NA rs3827077 0.24 0.24 0.242 0.246406 0.2137 0.1528 0.2334 0.3654 0.2249 0.2 0.16 0.26 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 1.098783 NA NA 0.19407 0.349296 NA 0.261 NA 3.38273 1322 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 1322 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 1322 19 53100585 53100585 G T ncRNA_exonic ZNF137P NA NA NA ncRNA_exonic ENSG00000123870 NA NA NA NA NA 19q13.41 NA NA NA NA rs1802617 0.4 0.4 0.398 0.416933 0.4175 0.2679 0.4784 0.4773 0.4448 0.41 0.27 0.48 0.48 0.438 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.099092 NA 0.01 0.429153 0.461801 NA 0.442 NA 3.3820136 1322 5 108373106 108373106 C A intronic FER NA NA NA intronic ENSG00000151422 NA NA NA NA NA 5q21.3 NA NA NA NA rs3822684 0.15 0.15 0.148 0.150559 0.2187 0.0893 0.1124 0.1301 0.1984 0.22 0.08 0.12 0.16 0.1806 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.204733 2.204733 NA 0.218837 0.140554 NA 0.167 NA 3.381863 1322 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 1322 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 1322 8 22021388 22021388 C G intronic SFTPC NA NA NA UTR3 ENSG00000168484 ENST00000437090:c.*55C>G,ENST00000522109:c.*311C>G NA NA NA NA 8p21.3 NA NA NA NA rs2070687 0.32 0.32 0.327 0.295327 0.2823 0.3105 0.3761 0.3222 0.1994 0.28 0.35 0.37 0.32 0.2678 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.343865 NA NA 0.235668 0.298959 NA 0.261 NA 3.3808987 1322 9 27290984 27290984 T C intronic EQTN NA NA NA intronic ENSG00000120160 NA NA NA Score=397;Name=lod=55 NA 9p21.2 Score=892;Name=V$CEBPB_01 NA NA NA rs2383724 0.87 0.87 0.859 0.878195 0.8728 0.8938 0.9049 0.8601 0.8732 0.89 0.88 0.88 0.82 0.8779 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 0.240386 NA NA 0.868488 0.84975 NA 0.913 NA 3.380812 1322 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 1322 12 121004590 121004590 C A intronic RNF10 NA NA NA intronic ENSG00000022840 NA NA NA NA NA 12q24.31 NA NA NA NA rs546417 0.29 0.29 0.275 NA NA NA NA NA NA 0.28 0.48 0.24 0.11 0.302 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.184884 NA NA 0.317209 0.117567 ID=COSN164385;OCCURENCE=1(NS) 0.225 NA 3.380791 1322 1 31744168 31744168 G A intronic SNRNP40 NA NA NA intronic ENSG00000060688 NA NA NA NA NA 1p35.2 NA NA NA NA rs3737755 0.36 0.36 0.322 0.303115 0.6193 0.1766 0.4726 0.056 0.3221 0.61 0.18 0.5 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 0.4571 NA NA NA NA NA 0.326 NA 3.3807 1322 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 1322 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 1322 17 26101237 26101237 G A intronic NOS2 NA NA NA intronic ENSG00000007171 NA NA NA NA NA 17q11.2 NA NA NA NA rs3729966 0.21 0.21 0.213 0.21266 0.1918 0.2649 0.2695 0.1104 0.2781 0.19 0.3 0.23 0.12 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 -0.118004 NA NA 0.205233 0.134362 NA 0.268 NA 3.380467 1322 9 113171262 113171262 G A intronic SVEP1 NA NA NA intronic ENSG00000165124 NA NA NA NA NA 9q31.3 NA NA NA NA rs16914997 0.16 0.16 0.174 0.193291 0.2068 0.0804 0.1499 0.2284 0.2791 0.21 0.06 0.15 0.2 0.1932 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.14152 NA NA 0.219545 0.21623 NA 0.145 NA 3.380455 1322 19 17273753 17273753 C T intronic MYO9B NA NA NA ncRNA_intronic ENSG00000268056 NA NA NA NA NA 19p13.11 NA NA NA NA rs12980061 0.31 0.31 0.286 0.297324 0.3141 0.374 0.3271 0.2511 0.2423 0.32 0.36 0.33 0.23 0.3286 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.844339 NA NA 0.31042 0.239498 NA 0.348 NA 3.3802133 1322 11 1944202 1944202 A G intronic TNNT3 NA NA NA intronic ENSG00000130595 NA NA NA NA NA 11p15.5 NA NA NA NA rs965912 0.79 0.79 0.761 0.779752 0.8161 0.9206 0.8487 0.5068 0.9172 0.82 0.94 0.8 0.55 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 -0.034154 NA NA 0.803897 0.538295 NA 0.775 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000024564.1;CLNDSDB=.;CLNDSDBID=. 3.380003 1322 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 1322 1 209905734 209905734 G C intronic HSD11B1 NA NA NA intronic ENSG00000117594 NA NA NA NA NA 1q32.2 NA NA NA NA rs932335 0.2 0.2 0.189 0.210863 0.2078 0.2212 0.2118 0.2352 0.1697 0.21 0.2 0.16 0.22 0.2124 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300979 NA NA 0.2 0.215842 NA 0.246 NA 3.3798 1322 6 36710269 36710269 A G intronic CPNE5 NA NA NA intronic ENSG00000124772 NA NA NA NA NA 6p21.2 NA NA NA NA rs3752480 0.19 0.19 0.167 0.178914 0.2217 0.2837 0.1945 0.025 0.2239 0.2 0.29 0.19 0.04 0.1937 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265981 NA NA 0.204884 0.069678 NA 0.174 NA 3.379716 1322 17 1577690 1577690 C T intronic PRPF8 NA NA NA intronic ENSG00000174231 NA NA NA NA NA 17p13.3 NA NA NA NA rs28715427 0.24 0.24 0.264 0.261981 0.1958 0.0903 0.1441 0.5893 0.1483 0.19 0.07 0.14 0.59 0.213 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214382 NA NA 0.211628 0.505901 NA 0.283 NA 3.379572 1322 6 36711562 36711562 G C intronic CPNE5 NA NA NA intronic ENSG00000124772 NA NA NA NA NA 6p21.2 NA NA NA NA rs9380594 0.19 0.19 0.158 0.180112 0.2217 0.2778 0.196 0.0325 0.2249 0.2 0.28 0.19 0.05 0.1935 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.388001 NA NA 0.205233 0.071266 NA 0.181 NA 3.379567 1322 2 32927863 32927863 G A intronic TTC27 NA NA NA intronic ENSG00000018699 NA NA NA NA NA 2p22.3 NA NA NA NA rs2273659 0.18 0.18 0.151 0.207268 0.1938 0.2887 0.1455 0.0424 0.4039 0.18 0.28 0.16 0.06 0.2166 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597001 NA NA 0.210349 0.071493 NA 0.072 NA 3.379251 1322 17 73494963 73494963 G A intronic KIAA0195 NA NA NA intronic ENSG00000177728 NA NA NA NA NA 17q25.1 NA Name=Pol2 Name=23 NA rs9894026 0.77 0.77 0.819 0.779553 0.8926 0.5784 0.6383 0.8563 0.8671 0.9 0.54 0.71 0.88 0.8243 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 -0.658023 NA NA 0.903953 0.878575 NA 0.884 NA 3.379147 1322 12 52965761 52965761 C T exonic KRT74 NA synonymous SNV KRT74:NM_175053:exon3:c.G714A:p.T238T exonic ENSG00000170484 NA synonymous SNV ENSG00000170484:ENST00000305620:exon3:c.G714A:p.T238T,ENSG00000170484:ENST00000549343:exon3:c.G714A:p.T238T NA NA 12q13.13 NA NA NA NA rs673449 0.88 0.88 0.895 0.891573 0.7346 0.995 0.8674 0.9894 0.8313 0.74 1 0.86 0.98 0.8006 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.846779 NA NA 0.752326 0.956196 NA 0.826 NA 3.3791406 1322 5 33595996 33595996 C T intronic ADAMTS12 NA NA NA intronic ENSG00000151388 NA NA NA NA NA 5p13.3 NA NA Name=6 NA rs10461924 0.47 0.47 0.439 0.464257 0.5497 0.5605 0.4654 0.2254 0.5992 0.52 0.56 0.49 0.26 0.5257 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.879246 2.879246 NA 0.545465 0.285293 NA 0.42 NA 3.379135 1322 3 129210977 129210977 G C intronic IFT122 NA NA NA intronic ENSG00000163913 NA NA NA NA NA 3q22.1 NA NA NA NA rs2285354 0.48 0.48 0.518 0.536542 0.164 0.6746 0.2983 0.947 0.3916 0.15 0.67 0.31 0.91 0.292 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 0.719242 NA NA 0.165 0.810259 NA 0.645 NA 3.379 1322 12 97136239 97136239 G A intergenic CDK17,NEDD1 dist=341873;dist=164762 NA NA exonic ENSG00000270032 NA nonsynonymous SNV ENSG00000270032:ENST00000524981:exon19:c.G2447A:p.S816N NA NA 12q23.1 NA NA NA NA rs1990828 0.89 0.89 0.896 0.91234 0.8091 0.9474 0.866 0.9841 0.9182 0.82 0.94 0.83 0.98 0.8537 0.98 0.85 T 0.0 B 0.0 B 0.949 N 1.000 P -0.49 N . . -0.983 T 0.000 T 0.014 -0.243 2.829 -1.83 -0.250 -0.558 1.040 -0.243018 NA 0.68 0.791647 0.960945 NA 0.848 NA 3.3788864 1322 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 1322 12 57606386 57606386 A G UTR3 LRP1 NM_002332:c.*48A>G NA NA UTR3 ENSG00000123384 ENST00000243077:c.*48A>G NA NA Score=333;Name=lod=30 NA 12q13.3 NA Name=CTCFL_(SC-98982),CTCF NA NA rs7304504 0.92 0.92 0.881 0.899361 0.995 0.8661 0.9813 0.7504 0.9785 0.99 0.88 0.98 0.81 0.9673 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 2.247246 2.247246 NA 0.992604 0.818641 NA 0.92 NA 3.3784294 1322 1 202705455 202705455 G C exonic KDM5B NA synonymous SNV KDM5B:NM_006618:exon21:c.C3150G:p.P1050P exonic ENSG00000117139 NA synonymous SNV ENSG00000117139:ENST00000235790:exon21:c.C2676G:p.P892P,ENSG00000117139:ENST00000367265:exon21:c.C3150G:p.P1050P,ENSG00000117139:ENST00000367264:exon22:c.C3258G:p.P1086P NA NA 1q32.1 NA NA NA NA rs1141109 0.68 0.68 0.645 0.639577 0.7714 0.7837 0.8343 0.323 0.6452 0.79 0.78 0.82 0.31 0.7394 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 0.897115 NA NA 0.777442 0.376532 NA 0.594 NA 3.3784246 1322 17 66872802 66872802 G C exonic ABCA8 NA synonymous SNV ABCA8:NM_007168:exon32:c.C4122G:p.P1374P exonic ENSG00000141338 NA synonymous SNV ENSG00000141338:ENST00000269080:exon32:c.C4122G:p.P1374P,ENSG00000141338:ENST00000430352:exon32:c.C4242G:p.P1414P,ENSG00000141338:ENST00000586539:exon34:c.C4242G:p.P1414P NA NA 17q24.2 NA NA NA NA rs1481 0.79 0.79 0.76 0.813498 0.7445 0.9871 0.8559 0.6596 0.8834 0.73 0.99 0.86 0.6 0.789 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 -0.385753 NA NA 0.754767 0.682251 NA 0.645 NA 3.3783996 1322 1 87101245 87101245 A G ncRNA_intronic CLCA3P NA NA NA ncRNA_intronic ENSG00000153923,ENSG00000236915 NA NA NA NA NA 1p22.3 NA NA NA NA rs2292831 0.48 0.48 0.494 0.477835 0.4225 0.4077 0.4582 0.7322 0.2771 0.43 0.4 0.46 0.68 0.4331 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395874 NA NA 0.432744 0.682705 NA 0.413 NA 3.3783226 1322 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 1322 14 88658559 88658559 G T intronic KCNK10 NA NA NA intronic ENSG00000100433 NA NA NA NA NA 14q31.3 NA NA NA NA rs2277525 0.23 0.23 0.228 0.225439 0.2008 0.3919 0.1138 0.1271 0.2914 0.2 0.42 0.12 0.14 0.2176 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.982465 NA NA 0.20407 0.152065 NA 0.268 NA 3.37753 1322 11 19853992 19853992 A T intronic NAV2 NA NA NA intronic ENSG00000166833 NA NA NA NA NA 11p15.1 NA NA NA NA rs12364204 0.19 0.19 0.172 0.175519 0.2316 0.1319 0.1556 0.2179 0.1196 0.23 0.15 0.16 0.19 0.1873 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.675101 NA NA 0.204286 0.224193 NA 0.138 NA 3.376814 1322 12 57858835 57858835 G A intronic GLI1 NA NA NA intronic ENSG00000111087 NA NA NA NA NA 12q13.3 NA NA NA NA rs3817474 0.42 0.42 0.418 0.363019 0.6233 0.3046 0.3934 0.1611 0.407 0.62 0.33 0.44 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 0.711758 NA NA NA NA NA 0.435 NA 3.3767 1322 18 47088655 47088655 T G UTR5 LIPG NM_006033:c.-24T>G NA NA UTR5 ENSG00000101670 ENST00000261292:c.-24T>G,ENST00000427224:c.-24T>G,ENST00000580036:c.-24T>G NA NA NA NA 18q21.1 NA NA NA NA rs34474737 0.27 0.27 0.231 0.27496 0.334 0.3323 0.2594 0.1513 0.3333 0.32 0.32 0.31 0.11 0.2982 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.963858 NA NA 0.324651 0.182251 NA 0.203 NA 3.3764824 1322 15 91825123 91825123 A T intronic SV2B NA NA NA intronic ENSG00000185518 NA NA NA NA NA 15q26.1 NA NA NA NA rs1117387 0.29 0.29 0.324 0.300919 0.2117 0.1399 0.1657 0.6467 0.1871 0.21 0.13 0.18 0.65 0.2162 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234041 NA NA 0.195789 0.569154 NA 0.355 NA 3.376311 1322 7 11630298 11630298 C A intronic THSD7A NA NA NA intronic ENSG00000005108 NA NA NA NA NA 7p21.3 NA NA NA NA rs2074602 0.13 0.13 0.095 0.116613 0.2008 0.0823 0.1556 0.0295 0.1554 0.2 0.08 0.18 0.04 0.1964 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065728 NA NA 0.226663 0.058087 NA 0.094 NA 3.376137 1322 6 31851234 31851234 A G intronic EHMT2 NA NA NA intronic ENSG00000204371 NA NA NA NA NA 6p21.33 NA NA NA NA rs652888 0.2 0.2 0.197 0.214257 0.2008 0.253 0.1052 0.2443 0.2249 0.21 0.19 0.1 0.27 0.2107 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.698654 NA NA 0.21244 0.22896 NA 0.246 NA 3.37606 1322 3 12838293 12838293 G C intronic CAND2 NA NA NA intronic ENSG00000144712 NA NA NA NA NA 3p25.2 NA Name=YY1,CCNT2,YY1_(C-20),Pol2-4H8,TAF1 NA NA rs12631514 0.46 0.46 0.505 0.429912 0.5805 0.3224 0.4207 0.534 0.2515 0.58 0.28 0.41 0.54 0.5079 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.213413 NA NA 0.535609 0.550586 NA 0.435 NA 3.375991 1322 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 1322 9 131186401 131186401 C T intronic CERCAM NA NA NA intronic ENSG00000167123 NA NA NA NA NA 9q34.11 NA NA NA NA rs7038316 0.31 0.31 0.354 0.324281 0.2048 0.371 0.1988 0.503 0.2464 0.21 0.36 0.18 0.52 0.2436 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.150372 NA NA 0.175698 0.50227 NA 0.333 NA 3.375902 1322 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 1322 11 116732856 116732856 A G intronic SIK3 NA NA NA intronic ENSG00000160584 NA NA NA NA NA 11q23.3 NA NA NA NA rs484646 0.37 0.37 0.332 0.302716 0.6243 0.2242 0.4107 0.0772 0.2812 0.63 0.21 0.46 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 0.027297 NA NA NA NA NA 0.471 NA 3.3757 1322 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 1322 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 1322 19 6847974 6847974 A G intronic VAV1 NA NA NA intronic ENSG00000141968 NA NA NA NA NA 19p13.3 NA NA NA NA rs331680 0.38 0.38 0.394 0.391973 0.2167 0.369 0.281 0.7632 0.1728 0.21 0.38 0.26 0.74 0.2493 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.610902 NA NA 0.158953 0.616659 ID=COSN165699;OCCURENCE=1(breast) 0.42 NA 3.375047 1323 11 113105907 113105907 C A intronic NCAM1 NA NA NA intronic ENSG00000149294 NA NA NA NA NA 11q23.2 NA NA NA NA rs646558 0.29 0.29 0.318 0.291334 0.2008 0.249 0.2622 0.5408 0.1115 0.2 0.23 0.2 0.55 0.2218 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.341646 NA NA 0.202641 0.472447 NA 0.355 NA 3.374759 1323 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 1323 7 155530363 155530363 A G intronic RBM33 NA NA NA intronic ENSG00000184863 NA NA NA NA NA 7q36.3 NA NA NA NA rs2249337 0.27 0.27 0.261 0.260982 0.1839 0.3125 0.2406 0.3525 0.1779 0.19 0.34 0.25 0.33 0.2494 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.849352 NA NA 0.192755 0.308971 NA 0.275 NA 3.373945 1323 11 120837821 120837821 G A intronic GRIK4 NA NA NA intronic ENSG00000149403 NA NA NA NA NA 11q23.3 NA NA NA NA rs2276319 0.49 0.49 0.442 0.455471 0.6262 0.3542 0.598 0.382 0.3824 0.61 0.33 0.59 0.4 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 0.126787 NA NA NA NA NA 0.391 NA 3.3738 1323 19 1806083 1806083 A C intronic ATP8B3 NA NA NA intronic ENSG00000130270 NA NA NA NA NA 19p13.3 NA NA NA NA rs56193578 0.18 0.18 0.172 0.188498 0.2058 0.12 0.1628 0.2073 0.2342 0.21 0.12 0.16 0.2 0.2266 0.21 NA NA 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 0.194062 0.187469 NA 0.116 NA 3.373538 1323 17 39998141 39998141 C T exonic KLHL10 NA synonymous SNV KLHL10:NM_152467:exon2:c.C261T:p.P87P exonic ENSG00000161594 NA synonymous SNV ENSG00000161594:ENST00000293303:exon2:c.C261T:p.P87P,ENSG00000161594:ENST00000438813:exon2:c.C243T:p.P81P,ENSG00000161594:ENST00000448203:exon4:c.C261T:p.P87P NA NA 17q21.2 NA NA NA NA rs1529933 0.76 0.76 0.744 0.778155 0.7396 0.8323 0.8631 0.7035 0.8027 0.73 0.83 0.83 0.69 0.7827 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 0.872531 NA NA 0.771199 0.736991 NA 0.783 NA 3.3731676 1323 9 139657834 139657834 G C exonic LCN15 NA synonymous SNV LCN15:NM_203347:exon4:c.C393G:p.A131A exonic ENSG00000177984 NA synonymous SNV ENSG00000177984:ENST00000316144:exon4:c.C393G:p.A131A NA NA 9q34.3 NA NA NA NA rs9987876 0.75 0.75 0.781 0.704273 0.7823 0.8562 0.7752 0.5537 0.6207 0.75 0.88 0.77 0.57 0.7351 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 1.305026 1.305026 NA 0.776395 0.588516 ID=COSM455615;OCCURENCE=1(breast) 0.674 NA 3.3728716 1323 1 170916646 170916646 G T intronic MROH9 NA NA NA intronic ENSG00000117501 NA NA NA NA NA 1q24.3 NA NA NA NA rs4656817 0.24 0.24 0.205 0.250399 0.2008 0.3204 0.2666 0.1384 0.3691 0.2 0.32 0.28 0.16 0.2321 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152086 NA NA 0.19487 0.141264 NA 0.138 NA 3.37223 1323 17 5326162 5326162 G A intronic RPAIN NA NA NA intronic ENSG00000129197 NA NA NA NA NA 17p13.2 NA Name=c-Jun,CTCF,JunD,c-Fos,Rad21 NA NA rs2189336 0.73 0.73 0.728 0.778754 0.5268 0.9613 0.5605 0.9002 0.8405 0.54 0.96 0.55 0.88 0.6134 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 1.133414 NA NA 0.487791 0.835906 NA 0.725 NA 3.372009 1323 21 47966810 47966810 G C intronic DIP2A NA NA NA intronic ENSG00000160305 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839318 0.19 0.19 0.189 0.176118 0.2356 0.0268 0.1369 0.2693 0.1708 0.23 0.03 0.17 0.32 0.189 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.069021 NA NA 0.204229 0.228045 NA 0.203 NA 3.371171 1323 3 151165678 151165678 T C exonic IGSF10 NA synonymous SNV IGSF10:NM_178822:exon4:c.A2091G:p.Q697Q exonic ENSG00000152580 NA synonymous SNV ENSG00000152580:ENST00000282466:exon4:c.A2091G:p.Q697Q NA NA 3q25.1 NA NA NA NA rs9871952 0.79 0.79 0.794 0.786342 0.7724 0.7649 0.7695 0.8185 0.7914 0.77 0.78 0.77 0.85 0.7635 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 -0.12113 NA NA 0.759651 0.813209 NA 0.688 NA 3.3711156 1323 12 72091025 72091025 T G intronic TMEM19 NA NA NA intronic ENSG00000139291,ENSG00000258064 NA NA NA NA NA 12q21.1 NA NA NA NA rs3741690 0.55 0.55 NA 0.611821 0.2316 0.8284 0.4308 0.8419 0.5971 0.23 0.83 0.43 0.79 0.3974 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 -0.009703 NA NA NA NA NA 0.616 NA 3.371 1323 16 57595999 57595999 A G UTR5 GPR114 NM_153837:c.-7A>G NA NA UTR5 ENSG00000159618 ENST00000349457:c.-7A>G,ENST00000340339:c.-7A>G NA NA NA NA 16q21 NA NA NA NA rs1004363 0.43 0.43 0.432 0.392772 0.2893 0.4573 0.4193 0.534 0.2229 0.3 0.52 0.41 0.55 0.366 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68065 NA NA 0.307558 0.521611 NA 0.457 NA 3.3704754 1323 19 8162121 8162121 C T intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs45624733 0.16 0.16 0.172 0.135783 0.2992 0.0347 0.1916 0.0507 0.1472 0.3 0.04 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 -0.435327 NA NA 0.330479 0.086682 NA 0.181 NA 3.370321 1323 6 160645832 160645832 C T exonic SLC22A2 NA synonymous SNV SLC22A2:NM_003058:exon10:c.G1506A:p.V502V exonic ENSG00000112499 NA synonymous SNV ENSG00000112499:ENST00000366953:exon10:c.G1506A:p.V502V NA NA 6q25.3 NA NA NA NA rs316003 0.73 0.73 0.7 0.693091 0.7654 0.7966 0.8386 0.4244 0.772 0.78 0.82 0.83 0.48 0.7631 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 -1.455981 NA NA 0.767907 0.480935 NA 0.775 NA 3.3702596 1323 14 30194899 30194899 T C intronic PRKD1 NA NA NA intronic ENSG00000184304 NA NA NA NA NA 14q12 NA NA NA NA rs11626603 0.15 0.15 0.135 0.164537 0.2217 0.0506 0.1988 0.1104 0.272 0.23 0.06 0.21 0.09 0.1972 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178442 NA NA 0.21093 0.125965 NA 0.145 NA 3.37017 1323 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 1323 19 50771635 50771635 T C intronic MYH14 NA NA NA intronic ENSG00000105357 NA NA NA NA NA 19q13.33 NA Name=Egr-1 NA NA rs930086 0.88 0.88 0.871 0.864617 0.8738 0.8522 0.9006 0.8427 0.8722 0.89 0.89 0.89 0.84 0.8757 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 0.057361 NA NA 0.880604 0.864493 NA 0.848 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037039.1;CLNDSDB=.;CLNDSDBID=. 3.369896 1323 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 1323 9 78936564 78936564 G A intronic PCSK5 NA NA NA intronic ENSG00000099139 NA NA NA NA NA 9q21.13 NA NA NA NA rs11144829 0.16 0.16 0.168 0.179912 0.2048 0.0724 0.1974 0.2549 0.1513 0.21 0.06 0.18 0.21 0.2107 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.502163 1.502163 NA 0.214716 0.222603 NA 0.217 NA 3.369784 1323 21 31233994 31233994 T C intronic GRIK1 NA NA NA intronic ENSG00000171189 NA NA NA NA NA 21q21.3 NA NA NA NA rs468413 0.39 0.39 0.4 0.415136 0.2296 0.4603 0.2824 0.5598 0.4581 0.23 0.48 0.31 0.58 0.4007 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.640306 NA NA NA NA NA 0.384 NA 3.3697 1323 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 1323 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 1323 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 1323 3 21462754 21462754 A G exonic ZNF385D NA synonymous SNV ZNF385D:NM_024697:exon8:c.T1140C:p.P380P exonic ENSG00000151789 NA synonymous SNV ENSG00000151789:ENST00000281523:exon8:c.T1140C:p.P380P NA NA 3p24.3 NA NA NA NA rs451242 0.8 0.8 0.759 0.801118 0.7584 0.8988 0.8098 0.7368 0.8252 0.77 0.88 0.81 0.74 0.7835 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 0.196183 NA NA 0.755465 0.75783 NA 0.203 NA 3.3693016 1323 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 1323 13 30109939 30109939 G A intronic SLC7A1 NA NA NA intronic ENSG00000139514 NA NA NA NA NA 13q12.3 NA NA NA NA rs2274837 0.19 0.19 0.177 0.171326 0.2127 0.0714 0.2061 0.2103 0.1544 0.24 0.09 0.22 0.2 0.2088 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.783127 NA NA 0.210116 0.216296 NA 0.246 NA 3.368384 1323 11 43876435 43876435 A G intronic HSD17B12 NA NA NA ncRNA_intronic ENSG00000246250 NA NA NA NA NA 11p11.2 NA NA NA NA rs3736505 0.33 0.33 0.277 0.362021 0.3211 0.256 0.4654 0.4334 0.3436 0.31 0.19 0.45 0.43 0.3339 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303824 NA NA 0.31 0.422833 NA 0.333 NA 3.3683333 1323 19 4229635 4229635 A G intronic EBI3 NA NA NA intronic ENSG00000105246 NA NA NA NA NA 19p13.3 NA Name=YY1,Pol2,Pol2-4H8,TAF1 NA NA rs400089 0.64 0.64 0.647 0.631789 0.505 0.5258 0.6282 0.9085 0.5 0.51 0.55 0.64 0.92 0.587 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 -0.25055 NA NA 0.539795 0.846995 NA 0.746 NA 3.368205 1323 10 134563122 134563122 C T intronic INPP5A NA NA NA intronic ENSG00000068383 NA NA NA NA NA 10q26.3 NA NA NA NA rs3829130 0.14 0.14 0.125 0.13099 0.2127 0.1091 0.134 0.025 0.2106 0.21 0.1 0.15 0.05 0.1951 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065521 NA NA 0.224238 0.05084 NA 0.145 NA 3.367962 1323 11 76979900 76979900 C G intronic GDPD4 NA NA NA intronic ENSG00000178795 NA NA NA NA NA 11q13.5 NA NA NA NA rs1613357 0.78 0.78 0.785 0.752596 0.6322 0.745 0.804 0.9743 0.5481 0.65 0.77 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 -0.187475 NA NA NA NA NA 0.797 NA 3.3678 1323 1 241761349 241761349 T C intronic OPN3 NA NA NA intronic ENSG00000054277 NA NA NA NA NA 1q43 NA NA NA NA rs45572340 0.14 0.14 0.125 0.130391 0.2227 0.0764 0.147 0.0287 0.2168 0.23 0.1 0.16 0.03 0.189 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154046 NA NA 0.220612 0.059823 NA 0.152 NA 3.367688 1323 1 156706559 156706559 A C UTR3 RRNAD1 NM_001142560:c.*123A>C,NM_015997:c.*14A>C NA NA UTR3 ENSG00000143303 ENST00000368218:c.*123A>C,ENST00000368216:c.*14A>C,ENST00000476229:c.*123A>C NA NA NA NA 1q23.1 NA NA NA NA rs8658 0.83 0.83 NA 0.320887 0.326 0.6865 0.1715 0.1536 0.271 0.93 0.99 0.85 0.47 0.32 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 1.788485 1.788485 NA 0.319884 0.213799 NA 0.297 NA 3.3674494 1323 1 182355046 182355046 A G intronic GLUL NA NA NA intronic ENSG00000135821 NA NA NA NA NA 1q25.3 NA NA Name=4 NA rs2296519 0.66 0.66 0.656 0.675719 0.5408 0.8323 0.6167 0.7496 0.5951 0.52 0.81 0.62 0.73 0.5743 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 0.855462 NA NA 0.517483 0.734503 NA 0.601 NA 3.367417 1323 11 64368428 64368428 C T intronic SLC22A12 NA NA NA intronic ENSG00000197891 NA NA NA NA NA 11q13.1 NA NA NA NA rs11231837 0.33 0.33 0.306 0.324081 0.1988 0.5119 0.245 0.41 0.1994 0.21 0.45 0.26 0.42 0.2438 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.28066 NA NA 0.190133 0.380055 NA 0.268 NA 3.367267 1323 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 1323 11 64876740 64876740 C T intronic VPS51 NA NA NA intronic ENSG00000149823 NA NA NA NA NA 11q13.1 NA NA NA NA rs72932837 0.11 0.11 0.101 0.0982428 0.2237 0.0298 0.1369 0.028 0.1074 0.22 0.03 0.15 0.03 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 -1.754637 NA NA 0.235513 0.068864 NA 0.072 NA 3.366687 1323 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 1323 5 131892979 131892979 G A UTR5 RAD50 NM_005732:c.-38G>A NA NA UTR5 ENSG00000113522 ENST00000378823:c.-22082G>A,ENST00000265335:c.-38G>A,ENST00000533482:c.-38G>A,ENST00000423956:c.-38G>A,ENST00000453394:c.-38G>A NA NA NA NA 5q31.1 NA Name=BAF155 Name=145 NA rs4526098 0.94 0.94 0.935 0.92492 0.994 0.999 0.9712 0.7398 0.9949 1 1 0.96 0.77 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 1.800466 1.800466 NA 0.997674 0.764639 NA 0.913 NA 3.3664594 1323 20 3759200 3759200 G A intronic SPEF1 NA NA NA intronic ENSG00000101222 NA NA NA Score=259;Name=lod=15 NA 20p13 NA NA NA NA rs2281477 0.54 0.54 0.547 0.516973 0.5249 0.631 0.572 0.4576 0.4325 0.53 0.62 0.54 0.48 0.5638 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240552 NA NA 0.545179 0.497098 NA 0.572 NA 3.366121 1323 2 136561557 136561557 G A exonic LCT NA synonymous SNV LCT:NM_002299:exon11:c.C4606T:p.L1536L exonic ENSG00000115850 NA synonymous SNV ENSG00000115850:ENST00000452974:exon5:c.C2902T:p.L968L,ENSG00000115850:ENST00000264162:exon11:c.C4606T:p.L1536L NA NA 2q21.3 NA NA NA NA rs2304371 0.68 0.68 0.663 0.660144 0.7485 0.7758 0.7507 0.4047 0.7311 0.75 0.8 0.72 0.42 0.7532 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 0.575567 NA NA 0.799419 0.492964 NA 0.652 NA 3.3655476 1323 1 236706352 236706352 A C intronic LGALS8 NA NA NA ncRNA_intronic ENSG00000230325 NA NA NA NA NA 1q43 NA Name=CTCF NA NA rs2758174 0.56 0.56 0.538 0.5002 0.6759 0.4772 0.5086 0.4448 0.4121 0.68 0.49 0.55 0.46 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 -0.354988 NA NA 0.681279 0.491602 NA 0.63 NA 3.3654543 1323 1 235285740 235285740 C T intronic TOMM20 NA NA NA intronic ENSG00000173726 NA NA NA NA NA 1q42.3 NA NA NA NA rs4659823 0.26 0.26 0.229 0.280551 0.332 0.246 0.3703 0.0371 0.5286 0.34 0.27 0.37 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 -0.500604 NA NA 0.302582 0.067197 NA 0.232 NA 3.365418 1323 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 1324 20 62366478 62366478 A G intronic ZGPAT NA NA NA intronic ENSG00000197114 NA NA NA NA NA 20q13.33 NA NA NA NA rs2427534 0.28 0.28 0.19 0.263179 0.1948 0.631 0.2637 0.0439 0.2505 0.21 0.63 0.19 0.04 0.2374 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234017 NA NA 0.202868 0.079431 NA 0.138 NA 3.364932 1324 3 42305131 42305131 C G intronic CCK NA NA NA intronic ENSG00000187094 NA NA NA NA NA 3p22.1 NA Name=HA-E2F1,CTCF,CTCF_(SC-5916),TAF1,YY1_(C-20),SUZ12 Name=13 NA rs754635 0.77 0.77 0.791 0.765575 0.8956 0.7173 0.7767 0.6324 0.8538 0.89 0.7 0.8 0.63 0.8438 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 -1.02871 NA NA 0.896066 0.691024 NA 0.797 NA 3.364534 1324 12 99007356 99007356 T C UTR3 IKBIP NM_201613:c.*729A>G,NM_201612:c.*7A>G NA NA UTR3 ENSG00000166130 ENST00000420861:c.*7A>G,ENST00000342502:c.*7A>G,ENST00000393042:c.*729A>G NA NA NA NA 12q23.1 NA NA NA NA rs1048908 0.4 0.4 0.385 0.414337 0.2992 0.3502 0.3429 0.6142 0.3793 0.32 0.34 0.36 0.64 0.3527 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.396449 NA NA 0.316993 0.590059 NA 0.399 NA 3.3644404 1324 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 1324 1 236706371 236706371 A G intronic LGALS8 NA NA NA ncRNA_intronic ENSG00000230325 NA NA NA NA NA 1q43 NA Name=CTCF NA NA rs2758175 0.56 0.56 0.544 0.5002 0.6759 0.4772 0.5086 0.4448 0.4121 0.68 0.49 0.55 0.46 0.6111 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005727 NA NA 0.682442 0.495461 NA 0.63 NA 3.3638913 1324 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 1324 14 68191368 68191368 G A intronic RDH12 NA NA NA intronic ENSG00000139988 NA NA NA NA NA 14q24.1 NA NA NA NA rs61991867 0.53 0.53 0.507 0.473243 0.6362 0.5476 0.5735 0.2905 0.4049 0.63 0.54 0.58 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 0.321422 NA NA NA NA NA 0.514 NA 3.3638 1324 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 1324 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 1324 16 312253 312253 A G intronic ITFG3 NA NA NA intronic ENSG00000167930,ENSG00000269881 NA NA NA NA NA 16p13.3 NA NA NA NA rs10903013 0.39 0.39 0.381 0.401158 0.1809 0.5109 0.317 0.6377 0.2546 0.17 0.51 0.29 0.65 0.2653 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204487 NA NA 0.190543 0.516159 NA 0.384 NA 3.363257 1324 3 42236415 42236415 A G exonic TRAK1 NA synonymous SNV TRAK1:NM_001265609:exon9:c.A873G:p.S291S,TRAK1:NM_001265610:exon9:c.A873G:p.S291S,TRAK1:NM_014965:exon9:c.A921G:p.S307S,TRAK1:NM_001042646:exon10:c.A1095G:p.S365S,TRAK1:NM_001265608:exon10:c.A1095G:p.S365S exonic ENSG00000182606 NA synonymous SNV ENSG00000182606:ENST00000427771:exon2:c.A249G:p.S83S,ENSG00000182606:ENST00000341421:exon9:c.A921G:p.S307S,ENSG00000182606:ENST00000396175:exon9:c.A921G:p.S307S,ENSG00000182606:ENST00000449246:exon9:c.A873G:p.S291S,ENSG00000182606:ENST00000327628:exon10:c.A1095G:p.S365S NA NA 3p22.1 NA NA NA NA rs9851455 0.83 0.83 0.818 0.788339 0.7704 0.9792 0.8559 0.6868 0.6994 0.77 0.99 0.83 0.75 0.7825 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 0.911524 NA NA 0.750814 0.689968 NA 0.848 NA 3.3629526 1324 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 1324 X 49084492 49084492 C T intronic CACNA1F NA NA NA intronic ENSG00000102001 NA NA NA NA NA Xp11.23 NA NA NA NA rs6609854 0.38 0.38 0.3601 NA NA NA NA NA NA 0.28 0.65 0.42 0.21 0.3625 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.505944 NA NA 0.274822 0.193481 NA 0.21 NA 3.362678 1324 2 231359098 231359098 T G intronic SP100 NA NA NA intronic ENSG00000067066 NA NA NA NA NA 2q37.1 NA NA NA NA rs836230 0.18 0.18 0.184 0.181709 0.2266 0.2232 0.147 0.1278 0.1902 0.24 0.2 0.13 0.13 0.197 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302691 NA NA 0.213953 0.128915 NA 0.181 NA 3.362447 1324 15 64418397 64418397 G A exonic SNX1 NA synonymous SNV SNX1:NM_148955:exon4:c.G435A:p.P145P,SNX1:NM_001242933:exon6:c.G630A:p.P210P,SNX1:NM_003099:exon6:c.G630A:p.P210P exonic ENSG00000028528 NA synonymous SNV ENSG00000028528:ENST00000561026:exon4:c.G435A:p.P145P,ENSG00000028528:ENST00000261889:exon6:c.G630A:p.P210P,ENSG00000028528:ENST00000353874:exon6:c.G630A:p.P210P,ENSG00000028528:ENST00000559844:exon6:c.G630A:p.P210P NA NA 15q22.31 NA NA NA NA rs1130603 0.72 0.72 0.721 0.621805 0.8141 0.8313 0.6427 0.4629 0.408 0.82 0.81 0.67 0.47 0.6991 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 -0.946689 NA NA 0.791628 0.502951 NA 0.717 NA 3.3618386 1324 3 90276511 90276511 G A intergenic EPHA3,NONE dist=745227;dist=NONE NA NA ncRNA_intronic ENSG00000189002 NA NA NA NA NA 3p11.1 NA NA NA NA rs9815264 0.58 0.58 0.541 0.589457 0.6382 0.7629 0.6772 0.18 0.8517 0.65 0.77 0.68 0.17 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 -0.043586 NA NA NA NA NA 0.529 NA 3.3618 1324 12 53671549 53671549 A G intronic ESPL1 NA NA NA intronic ENSG00000135476 NA NA NA NA NA 12q13.13 NA NA NA NA rs2272313 0.62 0.62 0.626 0.633786 0.6382 0.8194 0.6009 0.4032 0.773 0.62 0.81 0.62 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 -0.816831 NA NA NA NA NA 0.551 NA 3.3618 1324 17 75207966 75207966 A G intronic SEC14L1 NA NA NA intronic ENSG00000129657 NA NA NA NA NA 17q25.2 NA NA NA NA rs2280269 0.66 0.66 0.658 0.638778 0.6382 0.6607 0.67 0.6838 0.5337 0.61 0.66 0.68 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 -0.296212 NA NA NA NA NA 0.674 NA 3.3618 1324 19 10108850 10108850 A G intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs3745594 0.31 0.31 0.298 0.314497 0.1968 0.2133 0.2896 0.643 0.1135 0.2 0.2 0.3 0.62 0.243 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.439485 NA NA 0.198488 0.588062 NA 0.399 NA 3.361712 1324 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 1324 4 139100372 139100372 C T splicing SLC7A11 NM_014331:exon12:c.1442+1G>A NA NA exonic ENSG00000151012 NA synonymous SNV ENSG00000151012:ENST00000280612:exon11:c.G1443A:p.S481S Score=389;Name=lod=51 NA 4q28.3 NA NA NA NA rs4479754 0.93 0.93 0.915 0.913538 0.998 1 0.9755 0.6868 1 1 1 0.98 0.72 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 1.864872 1.864872 NA 0.99907 0.739219 NA 0.935 NA 3.3613633 1324 8 26240646 26240646 A G UTR5 BNIP3L NM_004331:c.-1A>G NA NA UTR5 ENSG00000104765 ENST00000380629:c.-1A>G,ENST00000520077:c.-1A>G NA NA NA NA 8p21.2 NA Name=HA-E2F1,Pol2,HMGN3,TAF1,HEY1,Max,Sin3Ak-20 NA NA rs1055479 0.7 0.7 0.66 0.683506 0.6521 0.88 0.572 0.6831 0.593 0.65 0.88 0.54 0.67 0.6741 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 -0.829332 NA NA 0.645877 0.699042 NA 0.478 NA 3.3612564 1324 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 1324 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 1324 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 1324 7 20685786 20685786 G A intronic ABCB5 NA NA NA intronic ENSG00000004846 NA NA NA NA NA 7p21.1 NA NA NA NA rs11769236 0.19 0.19 0.192 0.220447 0.2068 0.0417 0.1657 0.4017 0.2127 0.21 0.04 0.16 0.37 0.2246 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.767255 NA NA 0.207984 0.385842 NA 0.217 NA 3.360616 1324 10 102750623 102750623 T C intronic C10orf2 NA NA NA intronic ENSG00000107815 NA NA NA NA NA 10q24.31 NA NA NA NA rs3740486 0.36 0.36 0.322 0.375998 0.1839 0.5298 0.2954 0.4758 0.3374 0.18 0.55 0.26 0.5 0.2752 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.988688 NA NA 0.18093 0.401725 NA NA NA 3.35997 1324 4 3514695 3514695 A G UTR3 LRPAP1 NM_002337:c.*6T>C NA NA UTR3 ENSG00000163956 ENST00000500728:c.*6T>C NA NA NA NA 4p16.3 NA NA NA NA rs6789 0.35 0.35 0.322 0.386382 0.2833 0.4058 0.5159 0.2905 0.5102 0.29 0.37 0.46 0.32 0.3837 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.822431 NA NA 0.306583 0.278257 NA 0.355 NA 3.3597504 1324 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 1324 6 148835416 148835416 C T intronic SASH1 NA NA NA intronic ENSG00000111961 NA NA NA NA NA 6q24.3 NA NA NA NA rs1057793 0.21 0.21 0.206 0.190096 0.2167 0.3244 0.2248 0.0983 0.1237 0.21 0.29 0.2 0.11 0.2164 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130231 NA NA 0.207558 0.13527 NA 0.29 NA 3.359342 1324 1 112302219 112302219 G A intronic DDX20 NA NA NA intronic ENSG00000064703 NA NA NA NA NA 1p13.2 NA NA NA NA rs538779 0.2 0.2 0.167 0.187899 0.2227 0.2143 0.2622 0.1135 0.1728 0.23 0.21 0.2 0.12 0.2145 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.644624 NA NA 0.203953 0.135043 NA 0.225 NA 3.358847 1324 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 1324 10 102750621 102750621 C T intronic C10orf2 NA NA NA intronic ENSG00000107815 NA NA NA NA NA 10q24.31 NA NA NA NA rs3740485 0.36 0.36 0.334 0.375998 0.1839 0.5298 0.2954 0.4758 0.3374 0.18 0.55 0.26 0.5 0.2751 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.061009 NA NA 0.182442 0.406037 NA NA NA 3.358558 1324 9 131186581 131186581 C T intronic CERCAM NA NA NA intronic ENSG00000167123 NA NA NA NA NA 9q34.11 NA NA NA NA rs2286813 0.35 0.35 0.408 0.383586 0.2058 0.371 0.2219 0.7005 0.2658 0.21 0.36 0.2 0.68 0.258 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.112716 NA NA 0.177791 0.6532 NA 0.391 NA 3.358409 1324 X 22230975 22230975 T C intronic PHEX NA NA NA intronic ENSG00000102174 NA NA NA NA NA Xp22.11 NA NA NA NA rs3213493 0.3 0.3 0.32432 NA NA NA NA NA NA 0.32 0.17 0.24 0.46 0.2991 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.203102 NA NA 0.342657 0.454902 NA 0.377 NA 3.358243 1324 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 1324 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 1324 14 31191772 31191772 T C intronic SCFD1 NA NA NA intronic ENSG00000092108 NA NA NA NA NA 14q12 NA NA NA NA rs17097130 0.27 0.27 0.26 0.247005 0.2187 0.4683 0.3184 0.0938 0.2045 0.21 0.48 0.31 0.11 0.2288 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.728248 1.728248 NA 0.194813 0.115978 NA 0.254 NA 3.357687 1324 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 1324 9 82006446 82006446 G A intergenic PSAT1,TLE4 dist=1061437;dist=180432 NA NA ncRNA_exonic ENSG00000186940 NA NA NA NA NA 9q21.31 NA NA NA NA rs11138190 0.18 0.18 0.176 0.167332 0.2316 0.255 0.1441 0.034 0.2076 0.23 0.26 0.16 0.03 0.1969 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.283153 NA NA 0.214651 0.066273 NA 0.116 NA 3.356849 1324 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 1324 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 1324 21 45217456 45217456 G A intronic RRP1 NA NA NA intronic ENSG00000160214 NA NA NA NA NA 21q22.3 NA NA NA NA rs2070537 0.28 0.28 0.268 0.28135 0.2028 0.4712 0.3271 0.149 0.3129 0.21 0.47 0.33 0.13 0.2514 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.293715 NA NA 0.189795 0.165541 NA 0.297 NA 3.356005 1324 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 1324 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 1324 1 247061466 247061466 C T intronic AHCTF1 NA NA NA intronic ENSG00000153207 NA NA NA NA NA 1q44 NA NA NA NA rs12023594 0.2 0.2 0.175 0.172324 0.2117 0.1935 0.2666 0.087 0.1585 0.21 0.22 0.28 0.1 0.2209 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.342169 NA NA 0.211512 0.118248 NA 0.174 NA 3.355888 1324 17 8784149 8784149 T C intronic PIK3R5 NA NA NA UTR3 ENSG00000141506 ENST00000585260:c.*69A>G NA NA NA NA 17p13.1 NA NA NA NA rs4791764 0.22 0.22 0.212 0.219649 0.2714 0.001 0.2723 0.4062 0.1022 0.27 0.0017 0.24 0.38 0.2462 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.911315 NA NA 0.293256 0.38266 NA 0.217 NA 3.3558107 1324 12 102295219 102295219 C T intronic DRAM1 NA NA NA intronic ENSG00000136048 NA NA NA NA NA 12q23.2 NA NA NA NA rs11111078 0.26 0.26 NA 0.347644 0.2972 0.3938 0.3199 0.351 0.3671 0.22 0.33 0.28 0.22 0.3354 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.184615 NA NA 0.011645 0.013713 NA NA NA 3.355755 1324 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 1324 17 1792174 1792174 G A intronic RPA1 NA NA NA intronic ENSG00000132383 NA NA NA NA NA 17p13.3 NA NA NA NA rs2270412 0.19 0.19 0.17 0.169728 0.2237 0.2867 0.2118 0.0091 0.181 0.22 0.31 0.22 0.0041 0.2121 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085977 NA NA 0.208488 0.040399 NA 0.261 NA 3.355712 1324 22 46679851 46679851 T G intronic TTC38 NA NA NA intronic ENSG00000075234 NA NA NA NA NA 22q13.31 NA NA NA NA rs6008505 0.15 0.15 0.082 0.172524 0.1372 0.001 0.1167 0.441 0.0624 0.13 NA 0.14 0.37 0.4017 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.665229 NA NA 0.105736 0.254749 NA 0.051 NA 3.355364 1324 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 1324 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 1325 20 139362 139362 G A intronic DEFB127 NA NA NA intronic ENSG00000088782 NA NA NA NA NA 20p13 NA NA NA NA rs6055460 0.59 0.59 0.588 0.552915 0.6451 0.4593 0.6153 0.5779 0.4765 0.64 0.51 0.59 0.59 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 0.215586 NA NA NA NA NA 0.696 NA 3.3549 1325 13 21751005 21751005 G C intronic MRP63 NA NA NA intronic ENSG00000173141 NA NA NA NA NA 13q12.11 NA Name=Egr-1,Pol2(b),Ini1,Pol2,HA-E2F1,Pol2-4H8 Name=50 NA rs9550717 0.85 0.85 0.843 0.836861 0.8767 0.9861 0.866 0.6286 0.9029 0.88 0.99 0.83 0.65 0.8833 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 1.0708 NA NA 0.885339 0.734329 NA 0.848 NA 3.354661 1325 12 11149532 11149532 A G ncRNA_UTR3 TAS2R20 NA NA NA UTR3 ENSG00000255837 ENST00000538986:c.*13T>C NA NA NA NA 12p13.2 NA NA NA NA rs1450839 0.41 0.41 0.387 0.423323 0.3827 0.755 0.3847 0.0651 0.635 0.37 0.74 0.43 0.07 0.4122 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431468 NA NA 0.350581 0.100318 NA 0.348 NA 3.354519 1325 10 134563366 134563366 A G intronic INPP5A NA NA NA intronic ENSG00000068383 NA NA NA NA NA 10q26.3 NA NA NA NA rs3750578 0.14 0.14 0.131 0.133187 0.2177 0.1091 0.1398 0.0257 0.2117 0.22 0.1 0.16 0.05 0.1979 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.073097 NA NA 0.229884 0.053588 NA 0.152 NA 3.354516 1325 2 242433348 242433348 A G intronic FARP2 NA NA NA UTR3 ENSG00000115694 ENST00000316586:c.*1729T>C NA NA NA NA 2q37.3 NA NA NA NA rs2018761 0.84 0.84 0.819 0.816693 0.8131 0.9435 0.8703 0.7927 0.684 0.81 0.95 0.85 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 -0.918596 NA NA NA NA NA 0.841 NA 3.3535667 1325 19 8321969 8321969 C T intronic CERS4 NA NA NA intronic ENSG00000090661 NA NA NA NA NA 19p13.2 NA NA NA NA rs36248 0.22 0.22 0.198 0.245208 0.1968 0.3313 0.3127 0.0893 0.3691 0.19 0.34 0.28 0.1 0.243 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699537 NA NA 0.207558 0.108261 NA 0.29 NA 3.352642 1325 6 29644633 29644633 C T intronic ZFP57 NA NA NA intronic ENSG00000204644 NA NA NA NA NA 6p22.1 NA NA NA NA rs376319 0.24 0.24 0.23 0.268171 0.1889 0.3264 0.3012 0.1914 0.3701 0.2 0.34 0.25 0.18 0.2322 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.505539 NA NA 0.226559 0.204511 NA 0.254 NA 3.352341 1325 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 1325 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 1325 11 67790243 67790243 C T intronic ALDH3B1 NA NA NA intronic ENSG00000006534 NA NA NA NA NA 11q13.2 NA NA NA NA rs3764818 0.16 0.16 0.15 0.141174 0.2296 0.1617 0.1585 0.0333 0.1626 0.22 0.18 0.18 0.04 0.1984 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.525857 NA NA 0.220075 0.072727 NA 0.159 NA 3.351925 1325 14 105170222 105170222 G A intronic INF2 NA NA NA intronic ENSG00000203485 NA NA NA NA NA 14q32.33 NA NA NA NA rs7145851 0.13 0.13 0.114 0.13139 0.2276 0.0496 0.1499 0.0401 0.227 0.22 0.05 0.15 0.05 0.2016 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.077739 NA NA 0.21889 0.072191 NA 0.217 NA 3.35191 1325 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 1325 4 74302071 74302071 T A intronic AFP NA NA NA intronic ENSG00000081051 NA NA NA NA NA 4q13.3 NA Name=HEY1,Sin3Ak-20,TBP NA NA rs3796678 0.52 0.52 0.511 0.5002 0.5447 0.5774 0.4193 0.4667 0.4775 0.55 0.55 0.44 0.48 0.5392 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.277998 1.277998 NA 0.564231 0.450477 NA 0.428 NA 3.351869 1325 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 1325 9 37489298 37489298 T C intronic POLR1E NA NA NA intronic ENSG00000137054 NA NA NA NA NA 9p13.2 NA NA NA NA rs3758223 0.21 0.21 0.184 0.215455 0.2018 0.244 0.3112 0.1694 0.1943 0.2 0.22 0.26 0.19 0.2288 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.163035 NA NA 0.217674 0.182705 NA 0.159 NA 3.351726 1325 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 1325 2 79253818 79253818 C G intronic REG3G NA NA NA intronic ENSG00000143954 NA NA NA NA NA 2p12 NA NA NA NA rs412912 0.19 0.19 0.169 0.207468 0.2157 0.2113 0.1383 0.1914 0.2658 0.22 0.2 0.17 0.16 0.2194 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675485 NA NA 0.214535 0.174762 NA 0.13 NA 3.350365 1325 11 22364744 22364744 G A intronic SLC17A6 NA NA NA intronic ENSG00000091664 NA NA NA NA NA 11p14.3 NA NA NA NA rs2246710 0.17 0.17 0.172 0.165935 0.2406 0.0149 0.1571 0.2352 0.1575 0.22 0.01 0.17 0.26 0.1891 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.235316 NA NA 0.22 0.226736 NA 0.217 NA 3.3503 1325 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 1325 1 181024404 181024404 G A UTR3 MR1 NM_001195000:c.*3G>A,NM_001194999:c.*3G>A,NM_001195035:c.*3G>A,NM_001531:c.*3G>A NA NA UTR3 ENSG00000153029 ENST00000434571:c.*3G>A,ENST00000367580:c.*3G>A,ENST00000282990:c.*3G>A,ENST00000367579:c.*3G>A NA NA NA NA 1q25.3 NA NA NA NA rs3747956 0.49 0.49 0.488 0.522364 0.2942 0.7609 0.5058 0.534 0.5072 0.28 0.76 0.47 0.53 0.3969 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 0.56373 NA NA 0.292209 0.526101 NA 0.551 NA 3.3500244 1325 20 33762489 33762489 C T intronic PROCR NA NA NA intronic ENSG00000088298,ENSG00000101000 NA NA NA NA NA 20q11.22 NA Name=Max,ELF1_(SC-631),USF-1 NA NA rs2069948 0.55 0.55 0.553 0.60603 0.5169 0.372 0.4611 0.8669 0.6892 0.54 0.33 0.49 0.86 0.569 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 1.600771 1.600771 NA 0.564186 0.79596 NA 0.652 NA 3.349914 1325 20 62839888 62839888 T C intronic MYT1 NA NA NA intronic ENSG00000196132 NA NA NA NA NA 20q13.33 NA NA NA NA rs59834539 0.17 0.17 0.167 0.169529 0.2306 0.0794 0.17 0.1906 0.1708 0.24 0.08 0.17 0.18 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 0.321389 NA NA 0.201663 0.180738 NA 0.145 NA 3.349837 1325 10 128797717 128797717 T C intronic DOCK1 NA NA NA intronic ENSG00000150760 NA NA NA NA NA 10q26.2 NA NA NA NA rs2275540 0.25 0.25 0.224 0.228834 0.2068 0.3214 0.2594 0.1959 0.1789 0.2 0.33 0.28 0.2 0.2413 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307738 NA NA 0.202084 0.196363 NA 0.304 NA 3.349816 1325 14 105457771 105457771 A G intronic C14orf79 NA NA NA UTR5 ENSG00000140104 ENST00000549240:c.-1541A>G NA NA NA NA 14q32.33 NA NA NA NA rs2247140 0.75 0.75 0.762 0.759185 0.8171 0.5645 0.7939 0.8782 0.7147 0.83 0.54 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 0.778832 NA NA NA NA NA 0.804 NA 3.3495667 1325 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 1325 19 4423419 4423419 C T intronic CHAF1A NA NA NA intronic ENSG00000167670 NA NA NA NA NA 19p13.3 NA NA NA NA rs11668886 0.12 0.12 0.106 0.105631 0.2346 0.003 0.3012 0.0083 0.0716 0.23 0.0035 0.26 0.01 0.1775 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.209724 NA NA 0.238953 0.049251 NA 0.21 NA 3.348947 1325 X 130409884 130409884 A T intronic IGSF1 NA NA NA intronic ENSG00000147255 NA NA NA NA NA Xq26.2 NA NA NA NA rs55936630 0.28 0.28 0.27663 NA NA NA NA NA NA 0.34 NA 0.35 0.47 0.3048 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.395842 NA NA 0.347024 0.483416 NA 0.283 NA 3.348176 1325 17 76462770 76462770 G A exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon56:c.C8907T:p.S2969S exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon56:c.C8865T:p.S2955S,ENSG00000187775:ENST00000585328:exon56:c.C8892T:p.S2964S NA NA 17q25.3 NA NA NA NA rs691225 0.71 0.71 0.703 0.65016 0.8002 0.8442 0.7651 0.348 0.6227 0.8 0.84 0.76 0.39 0.7312 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 -1.010537 NA NA 0.787159 0.434186 NA 0.645 NA 3.3481076 1325 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 1325 19 691909 691909 T C exonic PRSS57 NA synonymous SNV PRSS57:NM_214710:exon3:c.A330G:p.T110T exonic ENSG00000185198 NA synonymous SNV ENSG00000185198:ENST00000329267:exon3:c.A330G:p.T110T NA NA 19p13.3 NA NA NA NA rs4375794 0.69 0.69 0.675 0.677716 0.7982 0.6329 0.6282 0.6672 0.6493 0.79 0.6 0.65 0.66 0.7338 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 0.216371 NA NA 0.78686 0.690649 NA 0.572 NA 3.3478066 1325 10 65225245 65225245 A G ncRNA_exonic JMJD1C-AS1 NA NA NA intronic ENSG00000171988 NA NA NA NA NA 10q21.3 NA Name=CTCF,HA-E2F1,CHD2_(N-1250),Pol2,E2F1,CTCF_(C-20),TAF1,CTCFL_(SC-98982) Name=144 NA rs10761770 0.92 0.92 0.913 0.959665 0.999 1 0.9885 0.854 1 0.94 0.97 0.97 0.82 0.9886 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.994531 1.994531 NA 0.99793 0.865512 NA 0.391 NA 3.3478033 1325 19 15278057 15278057 A G intronic NOTCH3 NA NA NA intronic ENSG00000074181 NA NA NA Score=420;Name=lod=68 NA 19p13.12 NA Name=Pol2 NA NA rs1548555 0.87 0.87 0.884 0.870008 0.8817 0.8016 0.7622 0.9856 0.8487 0.88 0.8 0.79 0.98 0.8741 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 1.481776 1.481776 NA 0.896628 0.976396 NA 0.79 NA 3.347572 1325 9 123342275 123342275 A G UTR5 CDK5RAP2 NM_001011649:c.-19T>C,NM_018249:c.-19T>C,NM_001272039:c.-19T>C NA NA UTR5 ENSG00000136861 ENST00000359309:c.-19T>C,ENST00000360822:c.-19T>C,ENST00000349780:c.-19T>C,ENST00000360190:c.-19T>C,ENST00000480112:c.-19T>C,ENST00000473282:c.-19T>C,ENST00000481266:c.-19T>C NA NA NA NA 9q33.2 NA Name=YY1,Pol2 NA NA rs932974 0.97 0.97 0.964 0.965455 1 1 0.9798 0.8797 1 1 1 0.99 0.89 0.9878 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166736 NA NA 0.998605 0.881071 NA 0.928 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081943.1;CLNDSDB=.;CLNDSDBID=. 3.3469284 1325 8 104394744 104394744 T C exonic CTHRC1 NA synonymous SNV CTHRC1:NM_001256099:exon4:c.T606C:p.G202G,CTHRC1:NM_138455:exon4:c.T648C:p.G216G exonic ENSG00000164932 NA synonymous SNV ENSG00000164932:ENST00000520880:exon3:c.T258C:p.G86G,ENSG00000164932:ENST00000330295:exon4:c.T648C:p.G216G,ENSG00000164932:ENST00000520337:exon4:c.T606C:p.G202G NA NA 8q22.3 NA NA NA NA rs3098233 0.74 0.74 0.716 0.744609 0.7684 0.6677 0.732 0.7927 0.7434 0.76 0.66 0.75 0.78 0.7645 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 0.223067 NA NA 0.78686 0.775533 NA 0.732 NA 3.3469066 1325 14 53133036 53133036 T C intronic ERO1L NA NA NA intronic ENSG00000197930 NA NA NA NA NA 14q22.1 NA NA NA NA rs12885338 0.53 0.53 0.447 0.485823 0.6531 0.6349 0.5994 0.1021 0.5982 0.67 0.64 0.61 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 2.194431 2.194431 NA NA NA NA 0.457 NA 3.3469 1325 9 77697929 77697929 C G intronic NMRK1 NA NA NA intronic ENSG00000106733 NA NA NA NA NA 9q21.13 NA NA NA NA rs2273767 0.28 0.28 0.261 0.254593 0.3141 0.4573 0.196 0.0968 0.2393 0.3 0.45 0.21 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 -0.772663 NA NA 0.339095 0.134393 NA 0.203 NA 3.346805 1325 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 1325 2 26951449 26951449 G A UTR3 KCNK3 NM_002246:c.*13G>A NA NA UTR3 ENSG00000171303 ENST00000302909:c.*13G>A NA NA NA NA 2p23.3 Score=778;Name=V$HEN1_01 Name=CTCF NA NA rs1663002 0.97 0.97 0.977 0.96266 0.999 1 0.9827 0.8684 1 1 1 0.98 0.89 0.9893 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.890074 NA NA 0.999036 0.914037 NA 0.928 NA 3.3459974 1325 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 1325 12 82752633 82752633 G A intronic METTL25 NA NA NA intronic ENSG00000127720 NA NA NA NA NA 12q21.31 NA Name=Pol2,HA-E2F1,TCF12,CTCF,E2F6_(H-50),Znf143_(16618-1-AP),CTCF_(C-20),CTCF_(SC-5916),Pol2-4H8,ELF1_(SC-631),KAP1,Rad21,c-Myc,THAP1_(SC-98174),PAX5-C20,Egr-1,CCNT2,ZBTB7A_(SC-34508),SMC3_(ab9263),CTCFL_(SC-98982) Name=148 NA rs4882530 0.87 0.87 0.826 0.860224 0.8837 0.998 0.8991 0.6687 0.9254 0.89 1 0.89 0.67 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 1.800238 1.800238 NA 0.877914 0.744439 NA 0.797 NA 3.345686 1325 10 72061079 72061079 C T UTR3 LRRC20 NM_207119:c.*31G>A,NM_018239:c.*31G>A,NM_018205:c.*31G>A NA NA UTR3 ENSG00000172731 ENST00000395010:c.*31G>A,ENST00000395011:c.*31G>A,ENST00000373224:c.*31G>A,ENST00000355790:c.*31G>A,ENST00000357631:c.*31G>A,ENST00000358141:c.*31G>A NA NA Score=363;Name=lod=40 NA 10q22.1 Score=835;Name=V$HNF4_01 NA NA NA rs10740336 0.99 0.99 0.996 0.987819 0.998 1 0.9928 0.9592 1 1 1 0.99 0.96 0.9936 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.471368 2.471368 NA 0.996273 0.960856 NA 0.942 NA 3.3454604 1325 11 65684929 65684929 C T UTR3 C11orf68 NM_031450:c.*1G>A,NM_001135635:c.*1G>A NA NA UTR3 ENSG00000175573 ENST00000438576:c.*1G>A,ENST00000449692:c.*1G>A,ENST00000530188:c.*1G>A NA NA NA NA 11q13.1 Score=978;Name=V$HOXA3_01 NA Name=16 NA rs9667389 0.97 0.97 0.967 0.966054 1 1 0.9798 0.882 1 1 1 0.98 0.89 0.9887 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.745009 1.745009 NA 0.999418 0.890504 NA 0.964 NA 3.3452154 1326 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 1326 1 39958080 39958080 C G intronic BMP8A NA NA NA intronic ENSG00000183682 NA NA NA NA NA 1p34.3 NA NA NA NA rs10888798 0.52 0.52 0.464 0.552117 0.6551 0.5556 0.5893 0.2769 0.7883 0.65 0.52 0.57 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 1.707258 1.707258 NA NA NA NA 0.261 NA 3.3449 1326 6 151670897 151670897 T C exonic AKAP12 NA synonymous SNV AKAP12:NM_144497:exon2:c.T1077C:p.A359A,AKAP12:NM_005100:exon4:c.T1371C:p.A457A exonic ENSG00000131016 NA synonymous SNV ENSG00000131016:ENST00000354675:exon2:c.T1077C:p.A359A,ENSG00000131016:ENST00000359755:exon2:c.T1056C:p.A352A,ENSG00000131016:ENST00000253332:exon3:c.T1371C:p.A457A,ENSG00000131016:ENST00000402676:exon4:c.T1371C:p.A457A NA NA 6q25.1 NA NA NA NA rs900654 0.74 0.74 0.735 0.711062 0.7843 0.5863 0.7752 0.7693 0.6401 0.79 0.63 0.77 0.79 0.7525 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 0.372791 NA NA 0.785 0.782342 NA 0.696 NA 3.3448666 1326 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 1326 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 1326 14 50319499 50319499 G T UTR5 NEMF NM_004713:c.-28C>A NA NA UTR5 ENSG00000165525 ENST00000298310:c.-28C>A,ENST00000545773:c.-28C>A,ENST00000555970:c.-28C>A,ENST00000554626:c.-28C>A,ENST00000556672:c.-28C>A NA NA NA NA 14q21.3 NA Name=Ini1,E2F6,Pol2,Pol2(phosphoS2),HEY1,KAP1,ELF1_(SC-631),STAT1,TAF1,NFKB,Pol2-4H8,NRSF,YY1_(C-20),c-Myc,Nrf1,GTF2F1_(RAP-74),BAF155,Pol2(b),TBP Name=148 NA rs3100887 0.97 0.97 0.963 0.959665 1 1 0.9899 0.8525 1 1 1 0.99 0.86 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 1.148701 NA NA 0.999302 0.893327 NA 0.971 NA 3.3441314 1326 11 68331715 68331715 C G intronic PPP6R3 NA NA NA intronic ENSG00000110075 NA NA NA NA NA 11q13.2 NA NA NA NA rs10501398 0.6 0.6 0.558 0.605831 0.6561 0.7758 0.6787 0.2436 0.817 0.68 0.77 0.62 0.24 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 2.217599 2.217599 NA NA NA NA 0.5 NA 3.3439 1326 19 4294542 4294542 C T intronic TMIGD2 NA NA NA intronic ENSG00000167664 NA NA NA NA NA 19p13.3 NA NA NA NA rs12977100 0.2 0.2 0.187 0.194888 0.2336 0.2768 0.2853 0.0484 0.2045 0.22 0.26 0.28 0.04 0.2108 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.843311 NA NA 0.211744 0.098275 NA 0.261 NA 3.343856 1326 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 1326 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 1326 X 207451 207451 C T intronic PLCXD1 NA NA NA intronic ENSG00000182378 NA NA NA NA NA Xp22.33 NA NA NA NA rs6603167 0.38 0.38 0.4062 NA NA NA NA NA NA 0.3 0.12 0.32 0.84 0.3484 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 -0.997466 NA NA 0.308033 0.802088 ID=COSM1331189;OCCURENCE=1(ovary) 0.384 NA 3.343567 1326 10 102732813 102732813 A C intronic SEMA4G NA NA NA intronic ENSG00000055950,ENSG00000095539 NA NA NA NA NA 10q24.31 NA NA NA NA rs41291460 0.34 0.34 0.323 0.356629 0.1809 0.5268 0.2867 0.4054 0.3456 0.17 0.55 0.25 0.42 0.2694 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.057133 NA NA 0.206163 0.361099 NA 0.319 NA 3.343537 1326 16 30773822 30773822 T C UTR5 RNF40 NM_014771:c.-45T>C,NM_001207033:c.-45T>C,NM_001207034:c.-45T>C NA NA UTR5 ENSG00000103549,ENSG00000196118 ENST00000563909:c.-45T>C,ENST00000324685:c.-45T>C,ENST00000566811:c.-45T>C,ENST00000402121:c.-45T>C,ENST00000357890:c.-45T>C,ENST00000563683:c.-45T>C;ENST00000543610:c.-753A>G NA NA NA NA 16p11.2 Score=822;Name=V$PAX4_01 Name=GABP,Pol2-4H8,NFKB,HMGN3,ETS1,Pol2,CTCF,ZBTB7A_(SC-34508),YY1,BAF155,c-Myc,YY1_(C-20),TCF4,Sin3Ak-20 NA NA rs1550477 0.97 0.97 0.961 0.967452 1 1 0.9928 0.8805 1 1 1 0.99 0.88 0.9905 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.68635 NA NA 0.999645 0.889405 NA 0.942 NA 3.3431884 1326 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 1326 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 1326 1 179307047 179307047 T A intronic SOAT1 NA NA NA intronic ENSG00000057252 NA NA NA NA NA 1q25.2 NA NA NA NA rs10913726 0.15 0.15 0.153 0.150958 0.2087 0.0357 0.1196 0.1936 0.1748 0.23 0.04 0.13 0.18 0.2232 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.579491 1.579491 NA 0.225157 0.179237 NA 0.145 NA 3.342943 1326 15 77471105 77471105 C A intronic PEAK1 NA NA NA UTR3 ENSG00000173517 ENST00000558305:c.*14G>T NA NA NA NA 15q24.3 NA NA NA NA rs11856513 0.21 0.21 0.185 0.182708 0.2873 0.2143 0.2493 0.0129 0.2249 0.29 0.23 0.25 0.02 0.2517 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.474565 2.474565 NA 0.284855 0.054515 NA 0.239 NA 3.3428117 1326 16 84229559 84229559 T C exonic ADAD2 NA synonymous SNV ADAD2:NM_001145400:exon7:c.T1191C:p.S397S,ADAD2:NM_139174:exon8:c.T1437C:p.S479S exonic ENSG00000140955 NA synonymous SNV ENSG00000140955:ENST00000315906:exon7:c.T1191C:p.S397S,ENSG00000140955:ENST00000268624:exon8:c.T1437C:p.S479S NA NA 16q24.1 NA NA NA NA rs2303238 0.8 0.8 0.846 0.805312 0.7883 0.7123 0.6844 0.9902 0.7546 0.79 0.73 0.69 0.98 0.7626 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 -0.555279 NA NA 0.773045 0.951503 ID=COSM435869;OCCURENCE=1(breast) 0.558 NA 3.3427216 1326 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 1326 9 123342259 123342259 C A UTR5 CDK5RAP2 NM_001011649:c.-3G>T,NM_018249:c.-3G>T,NM_001272039:c.-3G>T NA NA UTR5 ENSG00000136861 ENST00000359309:c.-3G>T,ENST00000360822:c.-3G>T,ENST00000349780:c.-3G>T,ENST00000360190:c.-3G>T,ENST00000480112:c.-3G>T,ENST00000473282:c.-3G>T,ENST00000481266:c.-3G>T NA NA NA NA 9q33.2 NA Name=Pol2 NA NA rs932975 0.98 0.98 0.977 0.980431 1 1 0.987 0.9327 1 1 1 0.99 0.93 0.9921 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305214 NA NA 0.998953 0.924648 NA 0.978 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081944.1;CLNDSDB=.;CLNDSDBID=. 3.3422804 1326 4 140036422 140036422 T C intronic ELF2 NA NA NA ncRNA_exonic ENSG00000179967 NA NA NA NA NA 4q31.1 NA NA NA NA rs7661947 0.97 0.97 NA 0.969649 0.9911 0.9633 0.9942 0.9244 0.998 0.99 0.97 0.98 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 0.633378 NA NA NA NA NA 0.29 NA 3.3422333 1326 3 122145810 122145810 T A UTR3 KPNA1 NM_002264:c.*22A>T NA NA UTR3 ENSG00000114030 ENST00000344337:c.*22A>T,ENST00000485027:c.*1213A>T NA NA Score=795;Name=lod=2278 NA 3q21.1 Score=897;Name=V$AREB6_01 NA NA NA rs4677950 0.98 0.98 0.972 0.978035 1 1 0.9971 0.9183 1 1 1 1 0.92 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 0.227427 NA NA 0.998721 0.921471 NA 0.978 NA 3.3421124 1326 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 1326 9 131196334 131196334 G A intronic CERCAM NA NA NA intronic ENSG00000167123 NA NA NA NA NA 9q34.11 NA NA NA NA rs2072398 0.35 0.35 0.337 0.380591 0.2117 0.4196 0.2118 0.6354 0.2894 0.22 0.41 0.18 0.62 0.2628 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204757 NA NA 0.183605 0.586927 NA NA NA 3.341895 1326 4 76956528 76956528 A G intronic ART3,CXCL11 NA NA NA intronic ENSG00000156219,ENSG00000169248 NA NA NA NA NA 4q21.1 NA NA Name=13 NA rs4859415 0.7 0.7 0.702 0.690495 0.508 0.9375 0.7493 0.7322 0.5256 0.49 0.94 0.71 0.75 0.613 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 1.672739 1.672739 NA 0.537674 0.709487 NA 0.58 NA 3.341326 1326 7 81593454 81593454 G A intronic CACNA2D1 NA NA NA intronic ENSG00000153956 NA NA NA NA NA 7q21.11 NA NA NA NA rs3735517 0.25 0.25 0.259 0.257987 0.2316 0.1994 0.2277 0.351 0.2413 0.25 0.2 0.23 0.33 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 0.423507 NA NA 0.207587 0.348113 NA 0.29 NA 3.341213 1326 12 102154900 102154900 A G intronic GNPTAB NA NA NA intronic ENSG00000111670 NA NA NA NA NA 12q23.2 NA NA NA NA rs759935 0.69 0.69 0.706 0.690495 0.5318 0.8968 0.5418 0.7678 0.6421 0.53 0.91 0.56 0.78 0.6015 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 0.897306 NA NA 0.525581 0.735588 NA 0.572 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082191.1;CLNDSDB=.;CLNDSDBID=. 3.341119 1326 1 156230206 156230206 C A intronic SMG5 NA NA NA intronic ENSG00000198952 NA NA NA NA NA 1q22 NA NA NA NA rs2287024 0.24 0.24 0.214 0.266374 0.1938 0.2589 0.3674 0.2466 0.3037 0.19 0.25 0.37 0.23 0.2446 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.864013 1.864013 NA 0.220581 0.236496 NA 0.145 NA 3.341019 1326 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 1326 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 1326 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 1326 9 131196336 131196336 T A intronic CERCAM NA NA NA intronic ENSG00000167123 NA NA NA NA NA 9q34.11 NA NA NA NA rs2072397 0.35 0.35 0.353 0.380591 0.2117 0.4196 0.2118 0.6354 0.2894 0.22 0.41 0.18 0.62 0.263 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.896757 NA NA 0.184884 0.590104 NA NA NA 3.340416 1326 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 1326 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 1326 19 35769561 35769561 T G intronic USF2 NA NA NA intronic ENSG00000105698 NA NA NA NA NA 19q13.12 NA NA NA NA rs28365136 0.16 0.16 0.145 0.158147 0.2376 0.0258 0.1354 0.1861 0.1912 0.23 0.01 0.18 0.19 0.1976 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.572664 NA NA 0.224651 0.18906 NA 0.188 NA 3.340149 1326 15 89402239 89402239 T C exonic ACAN NA synonymous SNV ACAN:NM_001135:exon12:c.T6423C:p.L2141L,ACAN:NM_013227:exon12:c.T6423C:p.L2141L exonic ENSG00000157766 NA synonymous SNV ENSG00000157766:ENST00000561243:exon11:c.T6423C:p.L2141L,ENSG00000157766:ENST00000352105:exon12:c.T6423C:p.L2141L,ENSG00000157766:ENST00000439576:exon12:c.T6423C:p.L2141L,ENSG00000157766:ENST00000559004:exon12:c.T6423C:p.L2141L NA NA 15q26.1 NA NA NA NA rs1042631 0.73 0.73 0.749 0.736422 0.7873 0.6111 0.6801 0.854 0.6943 0.8 0.58 0.69 0.84 0.7405 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 -2.035406 NA NA 0.79872 0.847596 ID=COSM147970;OCCURENCE=1(stomach) 0.717 NA 3.3401466 1326 2 16734284 16734284 T C intronic FAM49A NA NA NA intronic ENSG00000197872 NA NA NA NA NA 2p24.2 NA NA NA NA rs12997119 0.14 0.14 0.107 0.131989 0.2316 0.002 0.2867 0.0408 0.1769 0.24 NA 0.27 0.04 0.2027 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.756216 NA NA 0.22593 0.094871 NA 0.225 NA 3.33977 1326 2 241401566 241401566 G A intronic GPC1 NA NA NA intronic ENSG00000063660 NA NA NA NA NA 2q37.3 NA NA NA NA rs35971355 0.2 0.2 0.168 0.191294 0.1829 0.1925 0.255 0.2284 0.1033 0.18 0.19 0.25 0.23 0.2806 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414079 NA NA 0.19681 0.209894 NA 0.087 NA 3.33969 1326 16 4431202 4431202 A G exonic VASN NA synonymous SNV VASN:NM_138440:exon2:c.A324G:p.T108T exonic ENSG00000168140 NA synonymous SNV ENSG00000168140:ENST00000304735:exon2:c.A324G:p.T108T NA NA 16p13.3 NA NA NA NA rs758044 0.75 0.75 0.728 0.689696 0.7883 0.7917 0.7406 0.6142 0.5491 0.78 0.84 0.78 0.59 0.7497 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 0.368435 NA NA 0.789021 0.645719 NA 0.783 NA 3.3396456 1326 1 226252232 226252232 C T ncRNA_intronic H3F3AP4 NA NA NA intronic ENSG00000163041 NA NA NA NA NA 1q42.12 NA Name=ZNF263,CCNT2,TBP,ELF1_(SC-631),Pol2-4H8,TAF1,CTCF,GTF2B,Pol2 Name=147 NA rs2036870 0.98 0.98 0.976 0.982628 0.999 1 0.9914 0.9402 0.999 1 1 0.99 0.93 0.9949 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694923 NA NA 1 0.941915 NA 0.971 NA 3.3394333 1326 11 621795 621795 G A intronic CDHR5 NA NA NA intronic ENSG00000099834 NA NA NA NA NA 11p15.5 NA NA NA NA rs12801890 0.19 0.19 0.181 0.180312 0.2147 0.0208 0.2637 0.3003 0.0879 0.21 0.01 0.29 0.29 0.2005 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.633597 NA NA 0.245465 0.298684 NA 0.203 NA 3.339335 1326 19 18684563 18684563 C T intronic UBA52 NA NA NA intronic ENSG00000221983 NA NA NA NA NA 19p13.11 NA Name=CTCF_(SC-5916) NA NA rs2302055 0.5 0.5 0.486 0.459665 0.5646 0.6895 0.549 0.1346 0.4908 0.58 0.68 0.52 0.16 0.5318 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.301524 NA NA 0.564419 0.194281 NA 0.399 NA 3.339181 1326 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 1326 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 1326 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 1326 17 72519798 72519798 C T intronic CD300LB NA NA NA intronic ENSG00000178789 NA NA NA Score=243;Name=lod=13 NA 17q25.1 NA NA NA NA rs1472726 0.44 0.44 0.451 0.448083 0.5746 0.2302 0.4352 0.466 0.5276 0.57 0.24 0.45 0.46 0.5141 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.993477 NA NA 0.572558 0.493418 NA 0.406 NA 3.338742 1326 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 1326 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 1326 10 134594316 134594316 A G intronic INPP5A NA NA NA intronic ENSG00000068383 NA NA NA NA NA 10q26.3 NA NA NA NA rs3793687 0.15 0.15 0.147 0.141773 0.2237 0.1419 0.1383 0.0257 0.2168 0.23 0.15 0.15 0.04 0.2081 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.016548 NA NA 0.230409 0.046805 NA 0.145 NA 3.337791 1326 12 69995039 69995039 C A intronic CCT2 NA NA NA intronic ENSG00000166226 NA NA NA NA NA 12q15 NA NA NA NA rs11177742 0.2 0.2 0.185 0.203874 0.2416 0.2946 0.1686 0.0825 0.2607 0.24 0.26 0.2 0.09 0.2113 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.531918 1.531918 NA 0.209651 0.102587 NA 0.138 NA 3.337449 1326 1 16064411 16064411 T C intronic SLC25A34 NA NA NA intronic ENSG00000162461 NA NA NA NA NA 1p36.21 NA NA NA NA rs937592 0.22 0.22 0.213 0.224441 0.2117 0.0446 0.2291 0.4107 0.1677 0.2 0.05 0.27 0.41 0.2202 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.346291 NA NA 0.230698 0.38266 NA 0.297 NA 3.337402 1326 1 26662774 26662774 C T intronic AIM1L NA NA NA intronic ENSG00000176092 NA NA NA NA NA 1p36.11 NA Name=Pol2,ZNF263 NA NA rs7517559 0.7 0.7 0.732 0.671126 0.833 0.4464 0.6354 0.82 0.5603 0.84 0.44 0.65 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 1.192647 NA NA 0.829667 0.820087 NA 0.616 NA 3.337333 1326 14 75551254 75551254 C T UTR3 NEK9 NM_033116:c.*13G>A NA NA UTR3 ENSG00000119638 ENST00000238616:c.*13G>A NA NA NA NA 14q24.3 NA Name=CTCF NA Score=76;Name=740701_0_+_76 rs175487 0.99 0.99 0.992 0.988219 1 1 0.9928 0.9592 1 1 1 0.99 0.98 0.9961 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.923791 NA NA 1 0.958239 NA 0.978 NA 3.3372334 1326 11 124951311 124951311 T C intronic SLC37A2 NA NA NA intronic ENSG00000134955 NA NA NA NA NA 11q24.2 NA NA NA NA rs75801851 0.24 0.24 0.217 0.252596 0.2137 0.2837 0.2421 0.2118 0.3231 0.22 0.3 0.25 0.2 0.242 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.414405 NA NA 0.20749 0.21672 NA 0.21 NA 3.33681 1326 2 120900736 120900736 T C intronic EPB41L5 NA NA NA intronic ENSG00000115109 NA NA NA NA NA 2q14.2 NA NA NA NA rs75582263 0.28 0.28 0.252 0.30012 0.2028 0.3254 0.2695 0.3192 0.3701 0.22 0.33 0.25 0.36 0.2523 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16252 NA NA 0.208236 0.28847 NA 0.21 NA 3.336664 1326 12 48367829 48367829 G A intronic COL2A1 NA NA NA intronic ENSG00000139219 NA NA NA NA NA 12q13.11 NA NA NA NA rs1635560 0.21 0.21 0.222 0.223043 0.1968 0.2073 0.1945 0.2118 0.3016 0.2 0.22 0.2 0.2 0.2248 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719092 NA NA 0.24186 0.206764 NA 0.21 NA 3.33654 1326 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 1326 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 1326 1 3397188 3397188 T C UTR3 ARHGEF16 NM_014448:c.*37T>C NA NA UTR3 ENSG00000130762 ENST00000378378:c.*37T>C,ENST00000378373:c.*37T>C,ENST00000378371:c.*37T>C,ENST00000413250:c.*37T>C NA NA NA NA 1p36.32 NA Name=HNF4A,HNF4G_(SC-6558) Name=3 NA rs2487677 0.99 0.99 0.987 0.991813 1 1 0.9986 0.9697 1 1 1 1 0.97 0.9978 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196003 NA NA 0.999883 0.978709 NA 0.993 NA 3.3356504 1326 1 26879920 26879920 T C exonic RPS6KA1 NA synonymous SNV RPS6KA1:NM_001006665:exon6:c.T534C:p.A178A,RPS6KA1:NM_002953:exon7:c.T507C:p.A169A exonic ENSG00000117676 NA stoploss ENSG00000117676:ENST00000374163:exon7:c.T613C:p.X205R NA NA 1p36.11 NA NA NA NA rs4970490 0.99 0.99 0.991 0.991214 1 1 0.9986 0.9675 1 1 1 1 0.97 0.9978 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.288611 2.288611 NA 0.999884 0.976396 NA 1 NA 3.3356493 1326 19 16435717 16435717 T C UTR5 KLF2 NM_016270:c.-18T>C NA NA UTR5 ENSG00000127528 ENST00000248071:c.-18T>C,ENST00000592003:c.-18T>C NA NA NA NA 19p13.11 NA Name=Pol2-4H8,TAF1,Pol2,Pol2(phosphoS2) Name=2 NA rs8106384 1 1 1 0.997804 0.999 0.9901 1 1 1 1 0.99 1 1 0.9989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.784531 NA NA 1 0.999312 NA 0.341 NA 3.3354334 1326 3 47286227 47286227 G T intronic KIF9 NA NA NA ncRNA_exonic ENSG00000227398 NA NA NA NA NA 3p21.31 NA NA NA NA rs6772449 0.96 0.96 0.953 0.954073 0.998 1 0.9813 0.8374 1 1 1 0.98 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 0.202697 NA NA NA NA NA 0.92 NA 3.3353333 1326 10 50724016 50724016 C T exonic CSB-PGBD3,PGBD3 NA nonsynonymous SNV PGBD3:NM_170753:exon2:c.G1145A:p.R382K,CSB-PGBD3:NM_001277058:exon6:c.G2549A:p.R850K,CSB-PGBD3:NM_001277059:exon6:c.G2549A:p.R850K exonic ENSG00000243251,ENSG00000258838 NA nonsynonymous SNV ENSG00000243251:ENST00000508005:exon1:c.G1145A:p.R382K,ENSG00000243251:ENST00000374127:exon2:c.G1145A:p.R382K,ENSG00000258838:ENST00000447839:exon6:c.G2549A:p.R850K,ENSG00000258838:ENST00000515869:exon6:c.G2549A:p.R850K,ENSG00000243251:ENST00000603152:exon6:c.G2549A:p.R850K NA NA 10q11.23 NA NA NA NA rs4253072 1 1 0.998 0.996206 1 1 1 0.9856 1 1 1 1 0.98 0.9983 1 0.38 T 0.003 B 0.0 B . . 1.000 P -0.49 N 2.35 T -1.056 T 0.000 T 0.013 -0.693 0.995 0.699 -0.250 -0.544 . -0.69287 NA 1 1 0.98207 NA 1 NA 3.3350334 1326 4 1369093 1369093 C G intronic UVSSA NA NA NA intronic ENSG00000163945 NA NA NA NA NA 4p16.3 NA NA NA NA rs11941200 0.68 0.68 0.734 0.780152 0.665 0.7202 0.8012 0.9788 0.6769 0.57 0.65 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 -0.808016 NA NA NA NA NA NA NA 3.335 1326 4 1369094 1369094 T G intronic UVSSA NA NA NA intronic ENSG00000163945 NA NA NA NA NA 4p16.3 NA NA NA NA rs11946956 0.68 0.68 0.732 0.780152 0.665 0.7202 0.8012 0.9788 0.6769 0.57 0.65 0.71 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 -0.467476 NA NA NA NA NA NA NA 3.335 1327 7 100552017 100552017 C T intergenic ACHE,MUC12 dist=58476;dist=60887 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000319509:exon1:c.C768T:p.F256F NA NA 7q22.1 NA NA NA NA rs9691167 NA NA NA 0.426717 0.4622 0.5208 0.2939 0.447 0.3599 NA NA NA NA 0.3465 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56748 NA NA 0.356354 0.344178 ID=COSM452012,COSM452013;OCCURENCE=1(breast) 0.326 NA 3.334946 1327 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 1327 19 33167879 33167879 G A UTR3 RGS9BP NM_207391:c.*2G>A NA NA UTR3 ENSG00000186326 ENST00000334176:c.*2G>A NA NA NA NA 19q13.11 Score=897;Name=V$AP1_Q2 NA NA NA rs259291 0.56 0.56 0.591 0.53734 0.667 0.3085 0.5476 0.6407 0.4928 0.66 0.34 0.59 0.64 0.6259 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23636 NA NA 0.7063 0.668056 NA 0.428 NA 3.3341334 1327 5 1225613 1225613 G A exonic SLC6A18 NA synonymous SNV SLC6A18:NM_182632:exon1:c.G21A:p.P7P exonic ENSG00000164363 NA synonymous SNV ENSG00000164363:ENST00000296821:exon1:c.G21A:p.P7P,ENSG00000164363:ENST00000324642:exon1:c.G21A:p.P7P NA NA 5p15.33 NA NA NA NA rs7704058 0.75 0.75 0.731 0.740815 0.7873 0.5595 0.755 0.8283 0.7515 0.79 0.6 0.77 0.84 0.7657 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 0.253699 NA NA 0.779535 0.82138 ID=COSM149781;OCCURENCE=1(stomach) 0.717 NA 3.3341316 1327 5 6378614 6378614 G C UTR5 MED10 NM_032286:c.-18C>G NA NA UTR5 ENSG00000133398 ENST00000255764:c.-18C>G NA NA NA NA 5p15.31 NA Name=ETS1,HEY1,ELF1_(SC-631),GATA-1,NFKB,RFX5_(N-494),HMGN3,TAF1,Pol2-4H8,GABP,TCF12,E2F6_(H-50),E2F6,POU2F2,Pol2,TBP,CCNT2,Egr-1,AP-2gamma,ELK4,PAX5-N19,Pol2(b),PU.1,YY1,AP-2alpha,E2F4,GATA3_(SC-268),SETDB1,Sin3Ak-20,PAX5-C20,Mxi1_(bHLH),YY1_(C-20),Max,SP1,IRF1,c-Myc,Oct-2 Name=148 NA rs7723985 1 1 0.998 0.998802 1 1 1 0.9955 1 1 1 1 1 0.9994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.016835 NA NA 1 0.992964 NA 1 NA 3.3339334 1327 10 73104056 73104056 A G intronic SLC29A3 NA NA NA intronic ENSG00000198246 NA NA NA NA NA 10q22.1 NA NA Name=3 NA rs2243540 0.83 0.83 0.83 0.814297 0.9036 0.6657 0.8674 0.8487 0.7914 0.9 0.68 0.87 0.87 0.8674 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 0.036111 NA NA 0.895116 0.848842 NA 0.899 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118378.2;CLNDSDB=.;CLNDSDBID=. 3.333884 1327 12 22017422 22017422 A G intronic ABCC9 NA NA NA ncRNA_intronic ENSG00000257022 NA NA NA Score=620;Name=lod=442 NA 12p12.1 NA NA NA NA rs697250 1 1 0.999 0.998203 1 1 1 0.9932 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 4.096968 4.096968 NA 1 0.994323 NA 1 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000038599.1|RCV000123455.1;CLNDSDB=.|.;CLNDSDBID=.|. 3.3338333 1327 11 726178 726178 G C intronic EPS8L2 NA NA NA ncRNA_intronic ENSG00000269915 NA NA NA NA NA 11p15.5 NA Name=Egr-1 NA NA rs28498399 1 1 NA 1 1 1 1 1 1 1 1 1 1 0.9996 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.093643 NA NA NA NA NA NA NA 3.3337333 1327 12 57591458 57591458 C T intronic LRP1 NA NA NA intronic ENSG00000123384 NA NA NA NA NA 12q13.3 NA NA NA NA rs1800166 0.41 0.41 0.404 NA NA NA NA NA NA 0.32 0.41 0.41 0.54 0.3547 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.895476 NA NA 0.31186 0.490014 NA 0.326 NA 3.33344 1327 4 21950259 21950259 A G UTR5 KCNIP4 NM_147182:c.-1097992T>C NA NA UTR5 ENSG00000185774 ENST00000447367:c.-5T>C,ENST00000382152:c.-5T>C NA NA NA NA 4p15.2 NA Name=CTCF Name=25 NA rs6448102 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 -0.222711 NA NA 1 0.999749 NA 0.935 NA 3.3334334 1327 1 156626920 156626920 T C intronic BCAN NA NA NA ncRNA_intronic ENSG00000229953 NA NA NA NA NA 1q23.1 NA NA Name=33 NA rs7524611 0.98 0.98 1 1 1 1 1 1 1 0.96 0.98 0.99 0.98 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 -0.22068 NA NA NA NA NA 1 NA 3.3334333 1327 X 52818709 52818709 C A intergenic SSX2B,SPANXN5 dist=28092;dist=6477 NA NA intergenic ENSG00000226867,ENSG00000204363 dist=3879;dist=6475 NA NA NA NA Xp11.22 NA NA NA NA rs2806827 0.98 0.98 0.97456 NA NA NA NA NA NA 0.97 1 0.96 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 -0.78796 NA NA NA NA NA 0.725 NA 3.3333334 1327 X 52818754 52818754 A T intergenic SSX2B,SPANXN5 dist=28137;dist=6432 NA NA intergenic ENSG00000226867,ENSG00000204363 dist=3924;dist=6430 NA NA NA NA Xp11.22 NA NA NA NA rs2806828 0.97 0.97 0.96979 NA NA NA NA NA NA 0.96 1 0.96 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 -0.476764 NA NA NA NA NA 0.688 NA 3.3333334 1327 5 79368016 79368016 T C intronic THBS4 NA NA NA ncRNA_exonic ENSG00000249825 NA NA NA NA NA 5q14.1 NA NA NA NA rs256437 0.99 0.99 0.999 0.994209 1 0.9742 1 0.9992 0.998 1 0.98 1 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 -0.786907 NA NA NA NA NA 0.993 NA 3.3333333 1327 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 1327 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 1327 11 619671 619671 C T intronic CDHR5 NA NA NA intronic ENSG00000099834 NA NA NA NA NA 11p15.5 NA NA NA NA rs1124816 0.22 0.22 0.232 0.207468 0.2157 0.0198 0.2579 0.4039 0.091 0.21 0.01 0.29 0.41 0.2073 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.486347 NA NA 0.244651 0.394641 NA 0.261 NA 3.332349 1327 22 22517026 22517026 T C intergenic TOP3B,VPREB1 dist=179879;dist=82174 NA NA exonic ENSG00000211639 NA nonsynonymous SNV ENSG00000211639:ENST00000390284:exon2:c.T314C:p.F105S NA NA 22q11.22 NA Name=PU.1 NA NA rs738885 0.92 0.92 0.923 0.92492 0.8221 0.994 0.889 0.9932 0.8926 0.83 0.99 0.86 0.99 0.863 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 0.374079 NA 1 0.816048 0.966633 NA 0.949 NA 3.3321854 1327 8 131916318 131916318 A G intronic ADCY8 NA NA NA intronic ENSG00000155897 NA NA NA NA NA 8q24.22 NA NA Name=2 NA rs11781997 0.5 0.5 0.48 0.4373 0.5795 0.622 0.5029 0.2042 0.3691 0.57 0.62 0.54 0.23 0.5236 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.363674 4.363674 NA 0.565581 0.261462 NA 0.449 NA 3.331319 1327 6 4937747 4937747 A G intronic CDYL NA NA NA intronic ENSG00000153046 NA NA NA NA NA 6p25.1 NA NA NA NA rs56133250 NA NA NA 0.635184 0.669 0.7302 0.7104 0.4576 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 -0.339312 NA NA NA NA NA NA NA 3.331 1327 20 2777828 2777828 G T intronic CPXM1 NA NA NA intronic ENSG00000088882 NA NA NA NA NA 20p13 Score=784;Name=V$MYCMAX_03 NA NA NA rs742707 0.4 0.4 0.383 0.350839 0.5746 0.3968 0.487 0.059 0.3712 0.58 0.4 0.51 0.06 0.5283 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41156 NA NA 0.566163 0.155016 NA 0.355 NA 3.330937 1327 19 8321182 8321182 A T intronic CERS4 NA NA NA intronic ENSG00000090661 NA NA NA NA NA 19p13.2 NA NA NA NA rs28334 0.25 0.25 0.218 0.273962 0.1968 0.3313 0.3141 0.1853 0.3855 0.19 0.35 0.28 0.21 0.2624 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.455141 NA NA 0.210349 0.203586 NA 0.312 NA 3.330451 1327 22 23656148 23656148 T G intronic BCR NA NA NA intronic ENSG00000186716 NA NA NA NA NA 22q11.23 NA NA NA NA rs66569843 0.13 0.13 0.105 0.108427 0.2535 0.002 0.1628 0.0809 0.0675 0.25 NA 0.19 0.08 0.1805 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.09658 NA NA 0.235698 0.106673 NA 0.109 NA 3.330302 1327 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 1327 19 1123652 1123652 G A intronic SBNO2 NA NA NA intronic ENSG00000064932 NA NA NA NA NA 19p13.3 NA NA NA NA rs4807570 0.23 0.23 0.205 0.23762 0.1998 0.1141 0.3761 0.289 0.2362 0.2 0.13 0.33 0.31 0.2712 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040457 NA NA 0.199227 0.279385 NA 0.232 NA 3.329773 1327 17 73830996 73830996 C T intronic UNC13D NA NA NA intronic ENSG00000092929 NA NA NA NA NA 17q25.1 NA NA NA NA rs17581728 0.17 0.17 0.167 0.157548 0.2475 0.0952 0.1412 0.143 0.1605 0.24 0.1 0.17 0.12 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 -0.377461 NA NA 0.23314 0.154335 NA 0.116 NA 3.32966 1327 5 127512873 127512873 A C intronic SLC12A2 NA NA NA intronic ENSG00000064651 NA NA NA NA NA 5q23.3 NA NA NA NA rs1559263 0.33 0.33 0.345 0.34385 0.1938 0.3194 0.3775 0.553 0.2168 0.19 0.34 0.28 0.55 0.2638 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.188208 NA NA 0.213105 0.463896 NA 0.275 NA 3.329295 1327 19 41838206 41838206 G A intronic TGFB1 NA NA NA intronic ENSG00000105329 NA NA NA NA NA 19q13.2 NA NA NA NA rs8179181 0.11 0.11 0.098 0.0760783 0.2425 0.004 0.0994 0.0045 0.0593 0.25 0.0035 0.11 0.01 0.1817 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.7282 NA NA 0.246628 0.046754 NA 0.145 NA 3.329172 1327 11 113856681 113856681 G T intronic HTR3A NA NA NA intronic ENSG00000166736 NA NA NA NA NA 11q23.2 NA NA NA NA rs10160548 0.55 0.55 0.509 0.511382 0.671 0.6171 0.5706 0.1884 0.6329 0.69 0.63 0.58 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 0.62061 NA NA NA NA NA 0.457 NA 3.329 1327 1 204926980 204926980 C T intronic NFASC NA NA NA intronic ENSG00000163531 NA NA NA NA NA 1q32.1 NA NA NA NA rs7519658 0.18 0.18 0.19 0.164936 0.2406 0.0417 0.1599 0.2927 0.045 0.23 0.03 0.18 0.28 0.1909 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.337594 1.337594 NA 0.239535 0.3064 NA 0.152 NA 3.328965 1327 7 6155166 6155166 G T intronic USP42 NA NA NA intronic ENSG00000106346 NA NA NA NA NA 7p22.1 NA NA NA NA rs62454267 0.12 0.12 0.114 0.0928514 0.2475 NA 0.1354 0.0083 0.1135 0.26 NA 0.17 0.02 0.1785 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.790019 1.790019 NA 0.245285 0.046923 NA 0.101 NA 3.328715 1327 20 30053255 30053255 G A downstream DEFB124 NA NA NA downstream ENSG00000180383 NA NA NA NA NA 20q11.21 NA NA NA NA rs6059440 0.43 0.43 0.46 0.42472 0.338 0.2649 0.3285 0.7723 0.2771 0.33 0.28 0.37 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 -0.130883 NA NA NA NA NA 0.377 NA 3.3286666 1327 14 94419888 94419888 A G intronic ASB2 NA NA NA intronic ENSG00000100628 NA NA NA NA NA 14q32.12 NA Name=SMC3_(ab9263),Rad21,CTCF_(SC-5916),CTCF_(C-20),CTCF Name=12 NA rs4243701 0.92 0.92 0.945 0.92472 0.8907 0.998 0.7233 0.9977 0.9284 0.88 1 0.8 1 0.8914 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.045437 NA NA 0.890349 0.972991 NA 0.957 NA 3.327551 1327 21 46899947 46899947 G A intronic COL18A1 NA NA NA intronic ENSG00000182871 NA NA NA NA NA 21q22.3 NA NA NA NA rs9979845 0.18 0.18 0.157 0.170527 0.2356 0.1488 0.2536 0.1021 0.1595 0.22 0.17 0.25 0.08 0.2053 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826352 NA NA 0.231778 0.11039 NA 0.188 NA 3.327322 1327 17 79639198 79639198 C T intronic CCDC137 NA NA NA intronic ENSG00000185298 NA NA NA NA NA 17q25.3 NA NA NA NA rs7502870 0.25 0.25 0.282 0.239217 0.2515 0.2252 0.147 0.3464 0.1616 0.23 0.22 0.16 0.38 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 -0.764963 NA NA 0.213875 0.334913 NA 0.355 NA 3.326925 1327 14 53345266 53345266 G C intronic FERMT2 NA NA NA intronic ENSG00000073712 NA NA NA NA NA 14q22.1 NA Name=CEBPB Name=11 NA rs2357946 0.78 0.78 0.776 0.766973 0.9076 0.7798 0.8401 0.5431 0.8599 0.91 0.77 0.85 0.54 0.8579 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 0.305199 NA NA 0.907907 0.598048 NA 0.761 NA 3.326593 1327 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 1327 14 24806800 24806800 G C intronic RIPK3 NA NA NA intronic ENSG00000129465 NA NA NA NA NA 14q12 NA Name=FOSL2 NA NA rs1950501 0.45 0.45 0.419 0.43111 0.5716 0.4573 0.4078 0.2905 0.4663 0.57 0.44 0.42 0.28 0.5274 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669576 NA NA 0.574586 0.317922 NA 0.522 NA 3.326414 1327 2 201437334 201437334 T C exonic SGOL2 NA synonymous SNV SGOL2:NM_001160033:exon7:c.T2265C:p.P755P,SGOL2:NM_001160046:exon7:c.T2265C:p.P755P,SGOL2:NM_152524:exon7:c.T2265C:p.P755P exonic ENSG00000163535 NA synonymous SNV ENSG00000163535:ENST00000357799:exon7:c.T2265C:p.P755P NA NA 2q33.1 NA NA NA NA rs12052989 0.76 0.76 0.761 0.726038 0.7982 0.8135 0.6614 0.7027 0.6391 0.78 0.81 0.69 0.71 0.7516 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 -0.762671 NA NA 0.790549 0.69582 NA 0.826 NA 3.3263176 1327 11 1087410 1087410 G C intronic MUC2 NA NA NA intronic ENSG00000198788 NA NA NA NA NA 11p15.5 NA NA NA NA rs10751639 0.29 0.29 0.253 0.316693 0.2177 0.3889 0.3588 0.3359 0.2883 0.21 0.4 0.29 0.26 0.2553 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546658 NA NA 0.200955 0.302994 NA 0.232 NA 3.326045 1327 5 1801689 1801689 A C intronic NDUFS6 NA NA NA intronic ENSG00000145494 NA NA NA NA NA 5p15.33 NA Name=NFKB,HMGN3,ETS1,HEY1,HA-E2F1,Pol2,Ini1,TBP,Pol2(b),BAF155,GTF2F1_(RAP-74),c-Myc,Sin3Ak-20 Name=40 NA rs2242412 0.76 0.76 0.719 0.750998 0.9125 0.4435 0.9006 0.7564 0.7883 0.92 0.47 0.9 0.76 0.8474 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 0.190377 NA NA 0.914095 0.810353 NA 0.826 NA 3.326005 1327 13 32705785 32705785 A G intronic FRY NA NA NA intronic ENSG00000073910 NA NA NA NA NA 13q13.1 NA NA NA NA rs17591851 0.14 0.14 0.132 0.109824 0.2356 0.001 0.196 0.0635 0.0941 0.24 0.0017 0.23 0.08 0.1914 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.140863 NA NA 0.247004 0.092979 NA 0.101 NA 3.325996 1327 9 37493548 37493548 A G intronic POLR1E NA NA NA intronic ENSG00000137054 NA NA NA NA NA 9p13.2 NA NA NA NA rs10814567 0.26 0.26 0.25 0.269169 0.2028 0.244 0.3228 0.3669 0.1933 0.2 0.22 0.28 0.39 0.2523 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605254 NA NA 0.218953 0.345892 NA 0.239 NA 3.325947 1327 11 34460541 34460541 T C UTR5 CAT NM_001752:c.-20T>C NA NA UTR5 ENSG00000121691 ENST00000241052:c.-20T>C NA NA NA NA 11p13 NA Name=NFKB,ZEB1_(SC-25388),RFX5_(N-494),IRF3,TAF1,Pol2-4H8,HEY1,NF-YA,GATA-1,Pol2(phosphoS2),Pol2,CHD2_(N-1250),TBP,YY1,NF-YB,c-Fos,YY1_(C-20),Max,SP1,IRF1,c-Myc,Sin3Ak-20,Mxi1_(bHLH) NA NA rs1049982 0.53 0.53 0.541 0.528754 0.669 0.2728 0.464 0.5635 0.6472 0.66 0.29 0.53 0.59 0.6749 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 1.092225 NA NA 0.663785 0.567048 NA 0.58 NA 3.3256484 1327 9 114486219 114486219 T A intronic C9orf84 NA NA NA intronic ENSG00000165181 NA NA NA NA NA 9q31.3 NA NA NA NA rs12349541 0.15 0.15 0.148 0.14357 0.2286 0.0278 0.196 0.1422 0.1401 0.23 0.03 0.19 0.15 0.2255 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.531454 1.531454 NA 0.220713 0.163426 NA 0.196 NA 3.325187 1327 5 6748518 6748518 A G intronic PAPD7 NA NA NA intronic ENSG00000112941 NA NA NA NA NA 5p15.31 NA NA NA NA rs274682 0.59 0.59 0.58 0.563698 0.675 0.5734 0.5807 0.4047 0.6421 0.67 0.59 0.63 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 0.220976 NA NA NA NA ID=COSN167411;OCCURENCE=1(large_intestine) 0.754 NA 3.325 1328 5 73932315 73932315 T C UTR5 ENC1 NM_003633:c.-5A>G,NM_001256575:c.-5A>G,NM_001256574:c.-5A>G NA NA UTR5 ENSG00000171617 ENST00000302351:c.-5A>G,ENST00000537006:c.-5A>G,ENST00000508331:c.-5A>G,ENST00000509127:c.-5A>G NA NA Score=492;Name=lod=133 NA 5q13.3 NA NA NA NA rs9176 0.66 0.66 0.645 0.630791 0.6948 0.6726 0.7478 0.5257 0.5808 0.7 0.7 0.75 0.5 0.6589 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 3.422687 3.422687 NA 0.654767 0.546981 NA 0.601 NA 3.3248664 1328 1 227069677 227069677 T C exonic PSEN2 NA synonymous SNV PSEN2:NM_000447:exon4:c.T69C:p.A23A,PSEN2:NM_012486:exon4:c.T69C:p.A23A exonic ENSG00000143801 NA synonymous SNV ENSG00000143801:ENST00000496965:exon1:c.T69C:p.A23A,ENSG00000143801:ENST00000391872:exon2:c.T168C:p.A56A,ENSG00000143801:ENST00000495488:exon3:c.T69C:p.A23A,ENSG00000143801:ENST00000340188:exon4:c.T69C:p.A23A,ENSG00000143801:ENST00000366782:exon4:c.T168C:p.A56A,ENSG00000143801:ENST00000366783:exon4:c.T69C:p.A23A,ENSG00000143801:ENST00000422240:exon4:c.T69C:p.A23A NA NA 1q42.13 NA NA NA NA rs11405 0.74 0.74 0.744 0.735623 0.8022 0.5427 0.7176 0.8313 0.7495 0.81 0.59 0.74 0.83 0.7603 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 0.196165 NA NA 0.780116 0.818429 NA 0.812 NA 3.3240506 1328 4 25769130 25769130 C G intronic SEL1L3 NA NA NA intronic ENSG00000091490 NA NA NA NA NA 4p15.2 NA NA NA NA rs2290576 0.17 0.17 0.182 0.205272 0.2356 0.2421 0.2522 0.0923 0.2556 0.18 0.2 0.23 0.07 0.3034 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.344145 1.344145 NA 0.137063 0.067545 NA NA NA 3.323937 1328 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 1328 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 1328 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 1328 7 90356175 90356175 T C intronic CDK14 NA NA NA intronic ENSG00000058091 NA NA NA NA NA 7q21.13 NA Name=GATA-1 Name=67 NA rs10240049 0.93 0.93 0.929 0.940296 0.8748 0.999 0.9308 0.9531 0.9366 0.87 1 0.91 0.95 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 0.732813 NA NA 0.892483 0.948025 NA 0.957 NA 3.322817 1328 3 129289831 129289831 A G intronic PLXND1 NA NA NA intronic ENSG00000004399 NA NA NA NA NA 3q22.1 NA NA NA NA rs2244962 0.53 0.53 0.508 0.528554 0.3499 0.746 0.3804 0.6422 0.4397 0.34 0.74 0.4 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 0.222793 NA NA 0.327474 0.609018 NA 0.565 NA 3.322626 1328 3 52853747 52853747 C G intronic ITIH4 NA NA NA UTR3 ENSG00000243696 ENST00000468472:c.*2253G>C NA NA NA NA 3p21.1 NA NA NA NA rs2276815 0.31 0.31 0.276 0.258387 0.3022 0.3165 0.3919 0.2012 0.136 0.3 0.37 0.4 0.18 0.2737 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.917878 1.917878 NA 0.268256 0.22197 NA 0.159 NA 3.3225107 1328 5 175998208 175998208 T G intronic CDHR2 NA NA NA intronic ENSG00000074276 NA NA NA NA NA 5q35.2 NA NA NA NA rs6867593 0.31 0.31 0.284 0.320288 0.2137 0.4841 0.2262 0.3026 0.3517 0.21 0.49 0.19 0.32 0.2673 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172491 NA NA 0.196744 0.293917 NA 0.355 NA 3.322256 1328 12 25249785 25249785 T C intronic LRMP NA NA NA intronic ENSG00000118308 NA NA NA NA NA 12p12.1 NA NA NA NA rs10771166 0.65 0.65 0.605 0.593251 0.6779 0.9107 0.6801 0.1717 0.6871 0.7 0.9 0.71 0.22 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 0.352474 NA NA NA NA NA 0.522 NA 3.3221 1328 18 6985499 6985499 C T intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs11664115 0.16 0.16 0.151 0.135583 0.2286 0.1915 0.1383 0.0068 0.1544 0.24 0.17 0.17 0.01 0.1939 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050751 NA NA 0.256163 0.051067 ID=COSN165572;OCCURENCE=1(breast) 0.203 NA 3.321337 1328 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 1328 4 68514739 68514739 T C intronic UBA6 NA NA NA intronic ENSG00000033178 NA NA NA NA NA 4q13.2 NA NA NA NA rs3849642 0.17 0.17 0.162 0.149361 0.2485 0.0784 0.1455 0.1868 0.0726 0.25 0.08 0.17 0.16 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 0.864956 NA NA 0.240581 0.188153 NA 0.261 NA 3.320219 1328 X 49098631 49098631 A G intronic CCDC22 NA NA NA intronic ENSG00000101997 NA NA NA NA NA Xp11.23 NA NA NA NA rs2294018 0.56 0.56 0.56041 NA NA NA NA NA NA 0.28 0.65 0.51 0.9 0.4057 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 1.326964 1.326964 NA 0.274524 0.840156 NA 0.391 NA 3.319776 1328 6 32270363 32270363 A T intronic C6orf10 NA NA NA intronic ENSG00000204296 NA NA NA NA NA 6p21.32 NA NA NA NA rs7775332 0.25 0.25 0.244 0.258187 0.2366 0.2371 0.1354 0.3548 0.2587 0.25 0.2 0.16 0.37 0.22 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.000148 NA NA 0.223781 0.329244 NA 0.254 NA 3.319619 1328 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 1328 4 44626806 44626806 C A intronic YIPF7 NA NA NA intronic ENSG00000177752 NA NA NA NA NA 4p12 NA NA NA NA rs17600797 0.2 0.2 0.22 0.227636 0.2356 0.2312 0.1167 0.1861 0.3507 0.22 0.22 0.15 0.18 0.2326 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121356 NA NA 0.212284 0.193353 NA 0.123 NA 3.319516 1328 14 73425315 73425315 C T intronic DCAF4 NA NA NA intronic ENSG00000119599 NA NA NA NA NA 14q24.2 NA NA NA NA rs7144193 0.28 0.28 0.259 0.28754 0.2097 0.4752 0.4337 0.1331 0.2791 0.21 0.44 0.4 0.14 0.2663 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678079 NA NA 0.204535 0.149569 NA 0.203 NA 3.319465 1328 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 1328 6 6152211 6152211 C G intronic F13A1 NA NA NA intronic ENSG00000124491 NA NA NA NA NA 6p25.1 NA NA NA NA rs2274394 0.19 0.19 0.173 0.19389 0.2406 0.0923 0.2046 0.2292 0.1953 0.22 0.1 0.25 0.19 0.2091 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.169762 NA NA 0.231977 0.199274 NA 0.246 NA 3.318323 1328 6 6152007 6152007 C T intronic F13A1 NA NA NA intronic ENSG00000124491 NA NA NA NA NA 6p25.1 NA NA NA NA rs5980 0.19 0.19 0.177 0.19389 0.2406 0.0923 0.2046 0.2292 0.1953 0.22 0.1 0.25 0.19 0.2083 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.302751 NA NA 0.232907 0.199274 NA 0.246 NA 3.318193 1328 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 1328 8 113299275 113299275 A G intronic CSMD3 NA NA NA intronic ENSG00000164796 NA NA NA NA NA 8q23.3 NA NA NA NA rs10505181 0.15 0.15 0.148 0.125399 0.2336 0.0972 0.1484 0.0514 0.1268 0.24 0.09 0.19 0.08 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 0.763167 NA NA 0.253837 0.090104 ID=COSN168401;OCCURENCE=1(large_intestine) 0.174 NA 3.318063 1328 X 155171537 155171537 G C intronic VAMP7 NA NA NA intronic ENSG00000124333 NA NA NA NA NA Xq28 NA NA NA NA rs5940625 0.31 0.31 0.2814 NA NA NA NA NA NA 0.37 0.3 0.34 0.21 0.3382 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106018 NA NA 0.344507 0.274626 NA 0.319 NA 3.317293 1328 7 65439879 65439879 G C intronic GUSB NA NA NA intronic ENSG00000169919 NA NA NA NA NA 7q11.21 NA NA NA NA rs781143 0.57 0.57 0.52 0.564297 0.5606 0.7887 0.5576 0.3359 0.6503 0.57 0.83 0.56 0.28 0.5722 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 0.491142 NA NA 0.55 0.368588 NA 0.601 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078322.1;CLNDSDB=.;CLNDSDBID=. 3.3172 1328 3 151012497 151012497 T C exonic GPR87 NA synonymous SNV GPR87:NM_023915:exon3:c.A537G:p.L179L exonic ENSG00000138271 NA synonymous SNV ENSG00000138271:ENST00000260843:exon3:c.A537G:p.L179L NA NA 3q25.1 NA NA NA NA rs2242353 0.78 0.78 0.772 0.802915 0.7793 0.7212 0.8559 0.8661 0.7883 0.78 0.66 0.85 0.87 0.7921 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 -0.939131 NA NA 0.778256 0.843395 NA 0.746 NA 3.3170106 1328 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 1328 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 1328 14 96939108 96939108 T C intronic AK7 NA NA NA intronic ENSG00000140057 NA NA NA NA NA 14q32.2 NA NA NA NA rs60920648 0.26 0.26 0.277 0.268371 0.2336 0.1508 0.1787 0.4516 0.2413 0.24 0.16 0.19 0.45 0.2336 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.672926 NA NA 0.216163 0.391512 NA 0.355 NA 3.316637 1328 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 1328 22 50573081 50573081 T G intronic MOV10L1 NA NA NA intronic ENSG00000073146 NA NA NA NA NA 22q13.33 NA NA NA NA rs3736690 0.23 0.23 0.187 0.242612 0.2117 0.254 0.3818 0.121 0.3282 0.2 0.32 0.34 0.11 0.2521 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.761354 NA NA 0.22 0.149342 NA 0.188 NA 3.3162 1328 4 38924358 38924358 A G intronic FAM114A1 NA NA NA intronic ENSG00000197712 NA NA NA NA NA 4p14 NA NA NA NA rs12498685 0.16 0.16 0.16 0.147364 0.2316 0.0575 0.1354 0.1399 0.1718 0.23 0.07 0.15 0.16 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 2.673936 2.673936 NA 0.253023 0.168634 NA 0.138 NA 3.316177 1328 19 54234353 54234353 A G downstream MIR518A1 NA NA NA downstream ENSG00000207803 NA NA NA NA NA 19q13.42 NA NA NA NA rs4470257 0.16 0.16 0.161 0.181709 0.1143 0.1359 0.1282 0.3351 0.1288 0.12 0.13 0.12 0.3 0.1349 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.848838 NA NA 0.101619 0.277742 NA 0.159 NA 3.3158476 1328 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 1328 X 100511098 100511098 C T intronic DRP2 NA NA NA intronic ENSG00000102385 NA NA NA NA NA Xq22.1 NA NA NA NA rs3213505 0.32 0.32 0.33227 NA NA NA NA NA NA 0.36 0.26 0.3 0.34 0.328 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.226545 NA NA 0.356272 0.325163 NA 0.225 NA 3.315728 1328 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 1328 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 1328 7 6628242 6628242 T C intronic ZDHHC4 NA NA NA ncRNA_intronic ENSG00000232581 NA NA NA NA NA 7p22.1 NA NA NA NA rs3088114 0.38 0.38 0.37 0.39976 0.329 0.2411 0.4395 0.6165 0.3149 0.34 0.2 0.44 0.61 0.3663 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.589431 NA NA 0.322791 0.540853 NA 0.377 NA 3.3152423 1328 8 17166765 17166765 A G intronic MTMR7 NA NA NA intronic ENSG00000003987 NA NA NA Score=243;Name=lod=13 NA 8p22 NA NA NA NA rs1548353 0.55 0.55 0.51 0.492013 0.5815 0.3274 0.6225 0.6747 0.2301 0.6 0.37 0.61 0.65 0.5339 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.905699 1.905699 NA 0.569583 0.654789 NA 0.551 NA 3.315017 1329 19 10099748 10099748 T C intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs11883111 0.44 0.44 0.419 0.44349 0.334 0.4444 0.3876 0.6483 0.318 0.32 0.44 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 -0.673206 NA NA 0.351061 0.598533 NA 0.42 NA 3.314939 1329 17 48560883 48560883 A G intronic RSAD1 NA NA NA intronic ENSG00000136444 NA NA NA NA NA 17q21.33 NA NA NA NA rs1551717 0.24 0.24 0.247 0.26897 0.2227 0.0804 0.2579 0.4962 0.2117 0.22 0.07 0.26 0.45 0.2417 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.04028 NA NA 0.22093 0.443006 NA 0.384 NA 3.31467 1329 19 57293394 57293394 A G exonic ZIM2 NA synonymous SNV ZIM2:NM_015363:exon9:c.T573C:p.S191S,ZIM2:NM_001146326:exon10:c.T573C:p.S191S,ZIM2:NM_001146327:exon10:c.T573C:p.S191S exonic ENSG00000269699 NA synonymous SNV ENSG00000269699:ENST00000221722:exon9:c.T573C:p.S191S,ENSG00000269699:ENST00000593711:exon9:c.T573C:p.S191S,ENSG00000269699:ENST00000601070:exon9:c.T573C:p.S191S,ENSG00000269699:ENST00000391708:exon10:c.T573C:p.S191S,ENSG00000269699:ENST00000599935:exon10:c.T573C:p.S191S NA NA 19q13.43 NA NA NA NA rs2286751 0.72 0.72 0.7 0.747204 0.7624 0.6627 0.8026 0.6846 0.864 0.76 0.65 0.79 0.69 0.7915 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 -1.095806 NA NA 0.798256 0.711757 NA 0.696 NA 3.3145106 1329 19 54606405 54606405 T C intronic NDUFA3 NA NA NA intronic ENSG00000170906 NA NA NA NA NA 19q13.42 NA Name=ZNF263,Pol2 NA NA rs254259 0.53 0.53 0.512 0.525759 0.5706 0.4623 0.4207 0.6271 0.4826 0.56 0.47 0.43 0.62 0.5384 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457509 NA NA 0.576744 0.593055 NA 0.609 NA 3.314256 1329 8 11687959 11687959 C T intronic FDFT1 NA NA NA intronic ENSG00000079459 NA NA NA NA NA 8p23.1 NA NA NA NA rs2294137 0.32 0.32 0.278 0.298922 0.2087 0.75 0.281 0.0363 0.2945 0.22 0.72 0.26 0.04 0.2713 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.956685 NA NA 0.205814 0.070359 NA 0.261 NA 3.314186 1329 3 196742395 196742395 G A intronic MFI2 NA NA NA intronic ENSG00000163975 NA NA NA NA NA 3q29 NA NA NA NA rs41284049 0.24 0.24 0.25 0.229233 0.2217 0.2312 0.1585 0.292 0.2004 0.21 0.23 0.16 0.34 0.2497 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.03438 2.03438 NA 0.214619 0.278969 NA 0.21 NA 3.313981 1329 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=GATA-1,MafK_(ab50322) 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 1329 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 1329 16 57551966 57551966 A T intronic CCDC102A NA NA NA intronic ENSG00000135736 NA NA NA NA NA 16q21 NA NA NA NA rs28649020 0.22 0.22 0.263 0.215256 0.2445 0.0288 0.1585 0.413 0.1503 0.25 0.02 0.19 0.44 0.2238 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157795 NA NA 0.218486 0.363744 NA 0.217 NA 3.313214 1329 19 4491476 4491476 G C intronic HDGFRP2 NA NA NA intronic ENSG00000167674 NA NA NA NA NA 19p13.3 NA NA NA NA rs11878416 0.64 0.64 0.653 0.644169 0.6869 0.4296 0.6988 0.8064 0.5634 0.69 0.42 0.65 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 -0.534193 NA NA NA NA NA 0.717 NA 3.3131 1329 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 1329 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 1329 19 36236120 36236120 A G intronic U2AF1L4 NA NA NA UTR5 ENSG00000205155 ENST00000587708:c.-712A>G NA NA Score=627;Name=lod=473 NA 19q13.12 NA Name=NF-YA,HEY1,TAF1,Pol2-4H8,Pol2,PAX5-N19,PAX5-C20 NA NA rs231597 0.97 0.97 0.98 0.984026 0.9473 1 0.9769 0.9977 0.9918 0.94 1 0.97 1 0.9622 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.882522 NA NA 0.945 0.990241 NA 1 NA 3.3121667 1329 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 1329 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 1329 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 1329 19 36501445 36501445 C T intronic ALKBH6 NA NA NA ncRNA_intronic ENSG00000248101 NA NA NA NA NA 19q13.12 NA NA NA NA rs2073894 0.43 0.43 0.421 0.44349 0.325 0.3819 0.5058 0.6021 0.3701 0.32 0.4 0.46 0.6 0.3762 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285034 NA NA 0.320947 0.538662 NA 0.399 NA 3.3111863 1329 2 27280092 27280092 T A intronic AGBL5 NA NA NA intronic ENSG00000084693 NA NA NA NA NA 2p23.3 NA NA NA NA rs6711384 0.67 0.67 0.637 0.640775 0.6889 0.9345 0.5778 0.3533 0.7219 0.7 0.94 0.59 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 0.955926 NA NA NA NA NA 0.623 NA 3.3111 1329 16 4292002 4292002 C A intronic SRL NA NA NA intronic ENSG00000185739 NA NA NA NA NA 16p13.3 NA NA NA NA rs77545585 0.17 0.17 0.152 0.171725 0.2306 0.119 0.2349 0.1172 0.1943 0.25 0.11 0.25 0.08 0.2272 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152723 NA NA 0.231349 0.134733 NA 0.101 NA 3.310851 1329 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 1329 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 1329 9 21007935 21007935 A G intronic PTPLAD2 NA NA NA intronic ENSG00000188921 NA NA NA NA NA 9p21.3 NA NA NA NA rs7041474 0.76 0.76 0.74 0.749601 0.6899 0.9563 0.7003 0.7247 0.6667 0.7 0.95 0.7 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 -0.774464 NA NA NA NA NA 0.703 NA 3.3101 1329 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 1329 1 89236029 89236029 T A intronic PKN2 NA NA NA intronic ENSG00000065243 NA NA NA Score=692;Name=lod=863 NA 1p22.2 NA NA NA NA rs7541301 0.5 0.5 0.435 0.510184 0.5676 0.4702 0.4856 0.3548 0.7198 0.59 0.48 0.54 0.36 0.5666 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.555184 NA NA 0.556236 0.411716 NA 0.5 NA 3.309564 1329 11 35338893 35338893 G C intronic SLC1A2 NA NA NA intronic ENSG00000110436 NA NA NA NA NA 11p13 NA NA NA NA rs2273687 0.21 0.21 0.16 0.152556 0.2525 0.1905 0.2392 0.0582 0.0767 0.26 0.24 0.24 0.09 0.216 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.001151 NA NA 0.221964 0.081744 NA 0.138 NA 3.309536 1329 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 1329 10 32323591 32323591 G T intronic KIF5B NA NA NA intronic ENSG00000170759 NA NA NA NA NA 10p11.22 NA NA NA NA rs211277 0.16 0.16 0.15 0.154553 0.2316 0.005 0.1614 0.1936 0.1718 0.24 0.0035 0.2 0.18 0.2168 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098405 NA NA 0.242149 0.199137 NA 0.225 NA 3.309451 1329 11 77090211 77090211 T C intronic PAK1 NA NA NA intronic ENSG00000149269 NA NA NA NA NA 11q13.5 NA NA NA NA rs562939 0.66 0.66 0.693 0.67512 0.6909 0.5744 0.5101 0.8699 0.6166 0.69 0.54 0.54 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 0.44631 NA NA NA NA NA 0.703 NA 3.3091 1329 18 47527817 47527817 T G intronic MYO5B NA NA NA intronic ENSG00000167306 NA NA NA NA NA 18q21.1 NA NA NA NA rs12969222 0.16 0.16 0.132 0.128395 0.2445 0.1002 0.1585 0.0847 0.0757 0.24 0.1 0.2 0.1 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 0.828643 NA NA 0.252239 0.12293 NA 0.109 NA 3.309061 1329 8 142490120 142490120 G T exonic MROH5 NA unknown UNKNOWN exonic ENSG00000226807 NA unknown UNKNOWN Score=407;Name=lod=60 NA 8q24.3 NA NA NA NA rs2748416 0.8 0.8 0.799 0.781949 0.9155 0.7778 0.9121 0.5303 0.8967 0.91 0.8 0.93 0.54 0.8718 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 2.294906 2.294906 NA 0.90375 0.602102 NA 0.797 NA 3.30895 1329 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 1329 19 43420264 43420264 C T intronic PSG6 NA NA NA UTR3 ENSG00000170848 ENST00000601833:c.*5G>A NA NA NA NA 19q13.31 NA NA NA NA rs2074856 0.38 0.38 0.34 0.445487 0.2525 0.4315 0.4251 0.5703 0.5041 0.26 0.39 0.36 0.57 0.3458 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356072 NA NA 0.259772 0.561109 NA 0.464 NA 3.3085947 1329 1 91781644 91781644 C G intronic HFM1 NA NA NA intronic ENSG00000162669 NA NA NA NA NA 1p22.2 NA NA NA NA rs11589490 0.13 0.13 0.122 0.125 0.2346 0.005 0.1571 0.1233 0.1155 0.23 0.0035 0.17 0.11 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 -0.861631 NA NA 0.253577 0.136115 NA 0.21 NA 3.308423 1329 4 170601172 170601172 A G intronic CLCN3 NA NA NA intronic ENSG00000109572 NA NA NA NA NA 4q33 NA NA NA NA rs33965812 0.12 0.12 0.117 0.143371 0.2485 0.0417 0.1095 0.0121 0.3415 0.25 0.03 0.11 0.01 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 0.054308 NA NA 0.239884 0.046981 NA 0.094 NA 3.308316 1329 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 1329 18 32459704 32459704 A G intronic DTNA NA NA NA intronic ENSG00000134769 NA NA NA NA NA 18q12.1 NA NA NA NA rs2288085 0.25 0.25 0.254 0.262181 0.2425 0.0625 0.2493 0.4864 0.1943 0.25 0.08 0.24 0.45 0.2255 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.220538 NA NA 0.22407 0.458012 NA 0.304 NA 3.30793 1329 9 139840471 139840471 G T intronic C8G NA NA NA intronic ENSG00000176919 NA NA NA NA NA 9q34.3 NA Name=USF-1 NA NA rs7862602 0.61 0.61 0.618 0.632987 0.5437 0.8363 0.4452 0.6793 0.5859 0.53 0.81 0.45 0.65 0.6177 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 1.158704 NA NA 0.530748 0.625911 NA 0.681 NA 3.307852 1329 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 1329 16 55361493 55361493 C T intronic IRX6 NA NA NA ncRNA_intronic ENSG00000259283 NA NA NA NA NA 16q12.2 NA NA NA NA rs31082 0.32 0.32 0.271 0.309305 0.339 0.3671 0.3357 0.18 0.3753 0.35 0.37 0.3 0.22 0.3442 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.718175 NA NA 0.342558 0.228617 NA 0.326 NA 3.3075753 1329 11 1083364 1083364 G A intronic MUC2 NA NA NA intronic ENSG00000198788 NA NA NA NA NA 11p15.5 NA NA NA NA rs7396030 0.32 0.32 0.289 0.372005 0.2177 0.3909 0.366 0.4463 0.4151 0.21 0.4 0.3 0.39 0.2775 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294726 NA NA 0.197275 0.398551 NA 0.217 NA 3.307525 1329 17 56383187 56383187 C T intronic BZRAP1 NA NA NA intronic ENSG00000005379 NA NA NA NA NA 17q22 NA NA NA NA rs3744102 0.2 0.2 0.182 0.177316 0.2624 0.122 0.1988 0.1679 0.1442 0.25 0.12 0.24 0.17 0.1988 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.031017 NA NA 0.231628 0.17113 NA 0.37 NA 3.307172 1329 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 1329 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 1329 4 48073501 48073501 G T intronic TXK NA NA NA intronic ENSG00000074966 NA NA NA NA NA 4p12 NA Name=Rad21,CTCF Name=44 NA rs906486 0.88 0.88 0.871 0.838458 0.9036 0.998 0.9179 0.643 0.8149 0.91 1 0.9 0.69 0.8858 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.403802 NA NA 0.904651 0.686337 NA 0.891 NA 3.305949 1329 15 91009484 91009484 G A intronic IQGAP1 NA NA NA intronic ENSG00000140575 NA NA NA NA NA 15q26.1 NA NA Name=9 NA rs2074585 0.74 0.74 0.745 0.759185 0.5338 0.8194 0.7435 0.9818 0.6391 0.55 0.83 0.69 0.97 0.6266 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 -0.615398 NA NA 0.533853 0.914013 NA 0.775 NA 3.305747 1329 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 1329 19 56477687 56477687 A G exonic NLRP8 NA synonymous SNV NLRP8:NM_176811:exon5:c.A2322G:p.K774K exonic ENSG00000179709 NA synonymous SNV ENSG00000179709:ENST00000291971:exon5:c.A2322G:p.K774K,ENSG00000179709:ENST00000590542:exon5:c.A2322G:p.K774K NA NA 19q13.43 NA NA NA NA rs306497 0.86 0.86 0.856 0.874601 0.7744 0.8899 0.8156 0.9743 0.8691 0.79 0.88 0.83 0.95 0.8163 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 -0.599534 NA NA 0.770465 0.950068 NA 0.783 NA 3.3055016 1329 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 1329 19 47933728 47933728 A G intronic SLC8A2 NA NA NA intronic ENSG00000118160 NA NA NA NA NA 19q13.32 NA Name=USF-1,Pol2,E2F6_(H-50),CTCF,CTCF_(SC-5916),Pol2-4H8 Name=106 NA rs8104926 0.72 0.72 0.698 0.676118 0.9264 0.8185 0.7767 0.2231 0.8129 0.93 0.81 0.78 0.24 0.8464 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 1.00378 NA NA 0.921787 0.355408 NA 0.638 NA 3.305413 1329 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 1329 9 71852760 71852760 G A intronic TJP2 NA NA NA intronic ENSG00000119139 NA NA NA NA NA 9q21.11 NA NA NA NA rs2309421 0.29 0.29 0.244 0.285543 0.2207 0.4554 0.4496 0.1581 0.2331 0.22 0.45 0.42 0.13 0.2625 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.269364 NA NA 0.211744 0.166591 NA 0.239 NA 3.305056 1330 11 1081381 1081381 A G intronic MUC2 NA NA NA intronic ENSG00000198788 NA NA NA NA NA 11p15.5 NA NA NA NA rs10902083 0.32 0.32 0.243 0.368011 0.2197 0.376 0.3646 0.4395 0.4182 0.21 0.39 0.3 0.4 0.2737 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.162353 NA NA 0.201889 0.4067 NA 0.246 NA 3.304711 1330 18 673016 673016 C T UTR3 ENOSF1,TYMS NM_202758:c.*1289G>A,NM_017512:c.*1289G>A,NM_001126123:c.*205G>A;NM_001071:c.*19C>T NA NA UTR3 ENSG00000132199,ENSG00000176890 ENST00000383578:c.*205G>A,ENST00000319815:c.*205G>A;ENST00000323274:c.*19C>T,ENST00000323224:c.*19C>T NA NA NA NA 18p11.32 NA NA NA NA rs699517 0.48 0.48 0.512 0.498003 0.331 0.6944 0.3343 0.5779 0.4755 0.33 0.69 0.33 0.6 0.3867 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 0.336258 NA NA 0.31093 0.55084 NA 0.536 NA 3.3047034 1330 13 101322622 101322622 G C UTR5 TMTC4 NM_032813:c.-6C>G NA NA UTR5 ENSG00000125247 ENST00000342624:c.-6C>G,ENST00000475272:c.-6C>G,ENST00000423847:c.-1628C>G NA NA NA NA 13q32.3 NA NA NA NA rs1283201 0.4 0.4 0.387 0.410543 0.329 0.62 0.2478 0.3873 0.4254 0.32 0.59 0.23 0.41 0.3756 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367514 NA NA 0.324083 0.374293 NA 0.384 NA 3.3046504 1330 19 17395055 17395055 C G exonic ANKLE1 NA synonymous SNV ANKLE1:NM_152363:exon6:c.C1356G:p.T452T exonic ENSG00000160117 NA synonymous SNV ENSG00000160117:ENST00000394458:exon6:c.C1356G:p.T452T,ENSG00000160117:ENST00000404085:exon6:c.C1344G:p.T448T,ENSG00000160117:ENST00000594072:exon6:c.C1245G:p.T415T,ENSG00000160117:ENST00000598347:exon6:c.C1278G:p.T426T NA NA 19p13.11 NA NA NA NA rs11882562 0.64 0.64 0.677 0.635383 0.834 0.3135 0.5533 0.798 0.6012 0.83 0.29 0.6 0.78 0.7208 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 -1.352539 NA NA 0.807558 0.787562 NA 0.507 NA 3.3043086 1330 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 1330 1 228003967 228003967 G A intronic PRSS38 NA NA NA intronic ENSG00000185888 NA NA NA NA NA 1q42.13 NA NA NA NA rs12121588 0.2 0.2 0.188 0.191693 0.2485 0.125 0.1801 0.2163 0.1769 0.26 0.1 0.21 0.2 0.2126 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098863 NA NA 0.235055 0.211076 NA 0.145 NA 3.303845 1330 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 1330 19 17396549 17396549 T C exonic ANKLE1 NA synonymous SNV ANKLE1:NM_152363:exon8:c.T1596C:p.G532G exonic ENSG00000160117 NA synonymous SNV ENSG00000160117:ENST00000394458:exon8:c.T1596C:p.G532G,ENSG00000160117:ENST00000404085:exon8:c.T1584C:p.G528G,ENSG00000160117:ENST00000594072:exon8:c.T1485C:p.G495G NA NA 19p13.11 NA NA NA NA rs751599 0.64 0.64 0.673 0.635383 0.834 0.3135 0.5519 0.7988 0.6012 0.84 0.29 0.6 0.78 0.7214 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 -0.273017 NA NA 0.807674 0.786882 NA 0.674 NA 3.3035926 1330 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 1330 17 4637886 4637886 G A UTR3 CXCL16 NM_022059:c.*15C>T,NM_001100812:c.*15C>T NA NA UTR3 ENSG00000161921 ENST00000293778:c.*15C>T,ENST00000574412:c.*15C>T NA NA NA NA 17p13.2 NA NA NA NA rs1051009 0.32 0.32 0.299 0.295327 0.341 0.4752 0.3905 0.0159 0.3732 0.34 0.5 0.36 0.02 0.3439 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132969 NA NA 0.345116 0.076714 ID=COSN165307;OCCURENCE=1(breast) 0.283 NA 3.3033174 1330 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 1330 6 33647594 33647594 C A intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs4713653 0.69 0.69 0.637 0.688898 0.6968 0.877 0.7305 0.4387 0.7955 0.7 0.86 0.75 0.42 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 0.183321 NA NA NA NA NA 0.572 NA 3.3032 1330 17 7490379 7490379 G C intronic MPDU1 NA NA NA intronic ENSG00000129255 NA NA NA NA NA 17p13.1 NA Name=ZNF263,CTCF NA NA rs2302661 0.45 0.45 0.468 0.446486 0.5706 0.4673 0.4035 0.2171 0.638 0.59 0.46 0.47 0.22 0.5415 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.892361 NA 1 0.585136 0.287597 NA 0.471 NA 3.302764 1330 12 124330440 124330440 G A intronic DNAH10 NA NA NA intronic ENSG00000197653 NA NA NA NA NA 12q24.31 NA NA NA NA rs4930728 0.12 0.12 0.103 0.10643 0.2336 0.002 0.1787 0.0083 0.1646 0.24 0.0017 0.18 0.01 0.2115 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.226136 NA NA 0.252789 0.041403 NA 0.188 NA 3.302111 1330 8 6272399 6272399 G T exonic MCPH1 NA synonymous SNV MCPH1:NM_001172574:exon3:c.G228T:p.V76V,MCPH1:NM_001172575:exon3:c.G228T:p.V76V,MCPH1:NM_024596:exon3:c.G228T:p.V76V exonic ENSG00000147316 NA synonymous SNV ENSG00000147316:ENST00000344683:exon3:c.G228T:p.V76V,ENSG00000147316:ENST00000519480:exon3:c.G228T:p.V76V,ENSG00000147316:ENST00000522905:exon3:c.G228T:p.V76V NA NA 8p23.1 NA NA NA NA rs2305022 0.71 0.71 0.659 0.678115 0.7913 0.7808 0.8256 0.379 0.7556 0.81 0.78 0.83 0.39 0.7719 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 -0.923888 NA NA 0.801642 0.467285 NA 0.609 NA 3.3018246 1330 17 42847438 42847438 C G intronic ADAM11 NA NA NA intronic ENSG00000073670 NA NA NA NA NA 17q21.31 NA NA NA NA rs55882072 0.16 0.16 0.136 0.154353 0.2366 0.0526 0.1772 0.1581 0.1534 0.23 0.03 0.2 0.15 0.211 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.114238 NA NA 0.250814 0.169315 NA 0.181 NA 3.301586 1330 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 1330 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 1330 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 1330 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 1330 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 1330 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 1330 X 150867321 150867321 C T intronic PRRG3 NA NA NA intronic ENSG00000130032 NA NA NA NA NA Xq28 NA NA NA NA rs5925008 0.23 0.23 0.24483 NA NA NA NA NA NA 0.41 0.19 0.19 0.02 0.3021 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.376463 NA NA 0.397146 0.053194 NA 0.145 NA 3.300754 1330 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 1330 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 1330 6 33359820 33359820 A C intronic KIFC1 NA NA NA intronic ENSG00000237649 NA NA NA NA NA 6p21.32 NA Name=Pol2(b),Sin3Ak-20,Pol2-4H8,Pol2,USF-1 Name=43 NA rs172435 0.9 0.9 0.876 0.919529 0.8946 0.9931 0.9006 0.8457 0.9826 0.89 0.99 0.9 0.83 0.9143 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 1.122542 NA NA 0.891835 0.844233 NA 0.899 NA 3.299265 1330 11 10828361 10828361 C A intronic EIF4G2 NA NA NA intronic ENSG00000110321 NA NA NA NA NA 11p15.3 NA NA Name=3 NA rs10743151 0.49 0.49 0.421 0.493011 0.5606 0.5734 0.6614 0.1241 0.7198 0.56 0.6 0.63 0.14 0.5745 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.34709 2.34709 NA 0.565673 0.188551 NA 0.442 NA 3.299227 1330 22 26706826 26706826 T C intronic SEZ6L NA NA NA intronic ENSG00000100095 NA NA NA NA NA 22q12.1 NA NA NA NA rs666999 0.22 0.22 0.215 0.194289 0.2545 0.0704 0.1527 0.3555 0.0716 0.27 0.06 0.18 0.35 0.2092 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.488823 NA NA 0.237148 0.308897 NA 0.174 NA 3.299152 1330 11 1081151 1081151 T C intronic MUC2 NA NA NA intronic ENSG00000198788 NA NA NA NA NA 11p15.5 NA NA NA NA rs41464048 0.32 0.32 0.284 0.369808 0.2207 0.3919 0.3689 0.4312 0.4182 0.22 0.4 0.3 0.39 0.2768 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.111169 NA NA 0.203437 0.394697 NA 0.217 NA 3.299063 1330 17 48273464 48273464 T C intronic COL1A1 NA NA NA intronic ENSG00000108821 NA NA NA NA NA 17q21.33 NA Name=Pol2 NA NA rs2141279 0.84 0.84 0.855 0.842452 0.8549 0.7133 0.8415 0.9576 0.8078 0.86 0.71 0.83 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 1.21894 NA NA 0.846046 0.942602 NA 0.87 NA 3.299054 1330 10 122646379 122646379 A G ncRNA_intronic MIR5694 NA NA NA intronic ENSG00000120008 NA NA NA NA NA 10q26.12 NA NA NA NA rs7079830 0.37 0.37 0.357 0.395567 0.334 0.4177 0.4366 0.4297 0.3609 0.34 0.4 0.41 0.35 0.3643 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.012963 NA NA 0.336279 0.418974 NA 0.355 NA 3.2987543 1330 11 71169648 71169648 A G intronic NADSYN1 NA NA NA intronic ENSG00000172890 NA NA NA NA NA 11q13.4 NA NA NA NA rs2276361 0.52 0.52 0.526 0.405551 0.7018 0.381 0.4712 0.3525 0.1513 0.71 0.42 0.49 0.35 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 -0.700771 NA NA NA NA NA 0.601 NA 3.2982 1330 11 102824826 102824826 T C intronic MMP13 NA NA NA intronic ENSG00000137745 NA NA NA NA NA 11q22.2 NA NA NA NA rs478927 0.64 0.64 0.632 0.638379 0.7018 0.497 0.6556 0.7239 0.591 0.7 0.5 0.65 0.71 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 -0.10384 NA NA NA NA NA 0.768 NA 3.2982 1330 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 1330 12 124820013 124820013 A G intronic NCOR2 NA NA NA intronic ENSG00000196498 NA NA NA NA NA 12q24.31 NA NA NA NA rs1106317 0.35 0.35 0.33 0.40655 0.1938 0.4901 0.304 0.5197 0.4591 0.2 0.47 0.26 0.5 0.3057 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.239709 NA NA 0.202421 0.483598 NA 0.551 NA 3.298079 1330 11 1081577 1081577 G A intronic MUC2 NA NA NA intronic ENSG00000198788 NA NA NA NA NA 11p15.5 NA NA NA NA rs12416873 0.31 0.31 0.287 0.361422 0.2187 0.376 0.3617 0.4183 0.4162 0.21 0.39 0.29 0.37 0.2781 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644889 NA NA 0.205407 0.394681 NA 0.232 NA 3.297793 1330 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 1330 21 38858938 38858938 G A intronic DYRK1A NA NA NA intronic ENSG00000157540 NA NA NA NA NA 21q22.13 NA NA NA NA rs55650427 0.17 0.17 0.15 0.191294 0.2326 0.2054 0.1974 0.0113 0.3732 0.24 0.21 0.19 0.01 0.2337 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157786 NA NA 0.236909 0.049932 NA 0.319 NA 3.296791 1330 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 1330 9 131599008 131599008 C T intronic CCBL1 NA NA NA intronic ENSG00000171097 NA NA NA NA NA 9q34.11 NA NA NA NA rs2759009 0.59 0.59 0.543 0.519169 0.7038 0.6399 0.7421 0.1702 0.5184 0.75 0.64 0.72 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 -0.424266 NA NA NA NA NA 0.558 NA 3.2962 1330 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 1330 3 14965466 14965466 C T intronic FGD5 NA NA NA ncRNA_intronic ENSG00000225733 NA NA NA NA NA 3p25.1 NA NA Name=2 NA rs4685234 0.69 0.69 0.67 0.737819 0.675 0.623 0.7637 0.826 0.7832 0.67 0.6 0.75 0.78 0.6987 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 -0.314331 NA NA 0.663682 0.814348 NA 0.746 NA 3.2959513 1330 7 138270657 138270657 G A downstream TRIM24 NA NA NA UTR3 ENSG00000122779 ENST00000343526:c.*961G>A NA NA NA NA 7q34 NA NA NA NA rs1673203 0.31 0.31 0.285 0.342452 0.2207 0.499 0.2493 0.3321 0.3865 0.21 0.47 0.25 0.3 0.2741 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.54744 NA NA 0.209945 0.325913 NA 0.362 NA 3.295255 1331 7 141736798 141736798 T C intronic MGAM NA NA NA intronic ENSG00000257335 NA NA NA NA NA 7q34 NA NA NA NA rs4132774 0.29 0.29 0.288 0.297125 0.2366 0.2024 0.2637 0.4902 0.2198 0.23 0.21 0.28 0.49 0.2495 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224586 NA NA 0.219737 0.451731 NA 0.333 NA 3.294163 1331 9 114409550 114409550 A G intronic DNAJC25,DNAJC25-GNG10 NA NA NA intronic ENSG00000059769,ENSG00000244115 NA NA NA NA NA 9q31.3 NA NA NA NA rs4978455 0.35 0.35 0.323 0.3125 0.2306 0.4137 0.4265 0.3517 0.1585 0.23 0.46 0.36 0.4 0.2665 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.638726 NA NA 0.209022 0.307122 NA 0.268 NA 3.293878 1331 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 1331 12 120589160 120589160 A G exonic GCN1L1 NA synonymous SNV GCN1L1:NM_006836:exon34:c.T4098C:p.L1366L exonic ENSG00000089154 NA synonymous SNV ENSG00000089154:ENST00000300648:exon34:c.T4098C:p.L1366L NA NA 12q24.23 NA NA NA NA rs2286046 0.87 0.87 0.883 0.909345 0.7555 0.9851 0.8156 0.9887 0.9489 0.75 0.98 0.81 0.98 0.8346 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 0.128426 NA NA 0.783008 0.957291 NA 0.768 NA 3.2935586 1331 16 23364081 23364081 A C intronic SCNN1B NA NA NA intronic ENSG00000168447 NA NA NA NA NA 16p12.2 NA NA NA NA rs63982 0.33 0.33 0.321 0.357428 0.2197 0.6716 0.1614 0.211 0.5123 0.22 0.66 0.19 0.2 0.2808 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 0.219341 NA NA 0.206279 0.223259 NA 0.261 NA 3.293221 1331 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 1331 22 44277406 44277406 C T intronic PNPLA5 NA NA NA intronic ENSG00000100341 NA NA NA NA NA 22q13.31 NA NA NA NA rs55905376 0.3 0.3 0.272 0.287939 0.2237 0.4683 0.3588 0.1974 0.2403 0.23 0.47 0.32 0.17 0.2843 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144331 NA NA 0.199252 0.194343 NA 0.217 NA 3.292748 1331 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 1331 6 37618202 37618202 A G intronic MDGA1 NA NA NA intronic ENSG00000112139 NA NA NA NA NA 6p21.2 NA NA NA NA rs804816 0.29 0.29 0.315 0.279353 0.2266 0.1637 0.2061 0.531 0.1646 0.22 0.17 0.24 0.55 0.2877 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.481547 NA NA 0.193193 0.394969 NA 0.268 NA 3.292507 1331 21 45750248 45750248 G A intronic C21orf2 NA NA NA intronic ENSG00000160226 NA NA NA NA NA 21q22.3 NA Name=Pol2 NA NA rs11552067 0.44 0.44 0.435 0.464657 0.5845 0.3631 0.5461 0.2504 0.6779 0.58 0.36 0.54 0.23 0.5395 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357348 NA NA 0.583626 0.274415 NA 0.391 NA 3.292374 1331 22 30184950 30184950 A G UTR3 ASCC2 NM_032204:c.*52T>C,NM_001242906:c.*52T>C NA NA UTR3 ENSG00000100325 ENST00000307790:c.*52T>C,ENST00000458594:c.*2215T>C,ENST00000397771:c.*52T>C,ENST00000542393:c.*52T>C NA NA NA NA 22q12.2 NA NA NA NA rs7954 0.59 0.59 0.594 0.531949 0.5239 0.6548 0.4135 0.7216 0.2413 0.53 0.67 0.45 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 0.009317 NA NA 0.517328 0.679795 NA 0.616 NA 3.2921054 1331 10 28905079 28905079 A G intronic WAC NA NA NA intronic ENSG00000095787 NA NA NA NA NA 10p12.1 NA NA NA NA rs332176 0.16 0.16 0.166 0.149361 0.2495 0.1329 0.1268 0.0643 0.1943 0.26 0.13 0.14 0.08 0.2075 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.47847 2.47847 NA 0.25093 0.101226 ID=COSN163598;OCCURENCE=1(breast) 0.13 NA 3.29207 1331 11 1081392 1081392 T C intronic MUC2 NA NA NA intronic ENSG00000198788 NA NA NA NA NA 11p15.5 NA NA NA NA rs10902084 0.32 0.32 0.272 0.376398 0.2207 0.3919 0.3718 0.4539 0.4192 0.22 0.4 0.3 0.4 0.2811 0.42 NA NA 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 0.206205 0.420187 NA 0.261 NA 3.291995 1331 1 175355391 175355391 A G exonic TNR NA synonymous SNV TNR:NM_003285:exon8:c.T1554C:p.T518T exonic ENSG00000116147 NA synonymous SNV ENSG00000116147:ENST00000367674:exon8:c.T1554C:p.T518T,ENSG00000116147:ENST00000263525:exon9:c.T1554C:p.T518T NA NA 1q25.1 NA NA NA NA rs859437 0.82 0.82 0.818 0.832867 0.7724 0.8919 0.8631 0.8018 0.8548 0.77 0.9 0.83 0.79 0.8141 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 1.109629 NA NA 0.788372 0.817975 NA 0.826 NA 3.2917946 1331 11 5906192 5906192 A C exonic OR52E4 NA synonymous SNV OR52E4:NM_001005165:exon1:c.A670C:p.R224R exonic ENSG00000180974 NA synonymous SNV ENSG00000180974:ENST00000316987:exon1:c.A670C:p.R224R NA NA 11p15.4 NA NA NA NA rs1453435 0.83 0.83 0.833 0.800319 0.7992 0.8254 0.7579 0.8835 0.6933 0.83 0.82 0.79 0.9 0.7878 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 -0.154528 NA NA 0.788059 0.869605 NA 0.826 NA 3.2916076 1331 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 1331 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 1331 12 54339052 54339052 C A UTR3 HOXC13 NM_017410:c.*12C>A NA NA UTR3 ENSG00000123364 ENST00000243056:c.*12C>A NA NA NA NA 12q13.13 NA Name=CTCF NA NA rs4759058 0.64 0.64 0.604 0.536142 0.7078 0.7927 0.745 0.2292 0.362 0.71 0.83 0.7 0.25 0.635 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 -0.372901 NA NA 0.699651 0.296868 NA 0.457 NA 3.2908824 1331 19 10659737 10659737 C T intronic ATG4D NA NA NA intronic ENSG00000130734 NA NA NA NA NA 19p13.2 NA NA NA NA rs12979378 0.14 0.14 0.134 0.128794 0.2555 0.1012 0.1556 0.0144 0.1626 0.25 0.09 0.17 0.02 0.2068 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.887641 NA NA 0.247442 0.045393 ID=COSN165722;OCCURENCE=1(NS) 0.196 NA 3.290258 1331 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 1331 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 1331 11 35334032 35334032 T C intronic SLC1A2 NA NA NA intronic ENSG00000110436 NA NA NA NA NA 11p13 NA NA NA NA rs56028027 0.25 0.25 0.253 0.188698 0.2535 0.2827 0.2507 0.087 0.1186 0.26 0.34 0.25 0.12 0.2279 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450773 NA NA 0.229409 0.123297 NA 0.159 NA 3.289191 1331 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 1331 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 1331 3 100949842 100949842 G A exonic IMPG2 NA synonymous SNV IMPG2:NM_016247:exon16:c.C3381T:p.L1127L exonic ENSG00000081148 NA synonymous SNV ENSG00000081148:ENST00000193391:exon16:c.C3381T:p.L1127L NA NA 3q12.3 NA NA NA NA rs348867 0.82 0.82 0.811 0.812899 0.8052 0.8244 0.8242 0.8306 0.7771 0.82 0.8 0.82 0.83 0.7911 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 -1.500793 NA NA 0.781977 0.821834 NA 0.783 NA 3.2883896 1331 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 1331 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 1331 11 74705696 74705696 T C exonic NEU3 NA synonymous SNV NEU3:NM_006656:exon2:c.T237C:p.S79S exonic ENSG00000162139 NA synonymous SNV ENSG00000162139:ENST00000294064:exon2:c.T237C:p.S79S,ENSG00000162139:ENST00000531619:exon2:c.T237C:p.S79S,ENSG00000162139:ENST00000534628:exon2:c.T237C:p.S79S,ENSG00000162139:ENST00000531509:exon3:c.T237C:p.S79S,ENSG00000162139:ENST00000544263:exon3:c.T138C:p.S46S NA NA 11q13.4 NA NA NA NA rs544115 0.75 0.75 0.728 0.704073 0.8012 0.7748 0.8026 0.615 0.5818 0.81 0.77 0.79 0.6 0.7676 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 0.656577 NA NA 0.810579 0.666748 NA 0.739 NA 3.2872876 1331 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 1331 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 1331 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 1331 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 1331 18 61264468 61264468 C T exonic SERPINB13 NA synonymous SNV SERPINB13:NM_012397:exon8:c.C1047T:p.T349T exonic ENSG00000197641 NA synonymous SNV ENSG00000197641:ENST00000269489:exon7:c.C891T:p.T297T,ENSG00000197641:ENST00000344731:exon8:c.C1047T:p.T349T NA NA 18q21.33 NA NA NA NA rs1020693 0.78 0.78 0.775 0.78754 0.8042 0.875 0.7752 0.6921 0.818 0.8 0.86 0.78 0.67 0.787 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 -0.771102 NA NA 0.789535 0.733545 NA 0.826 NA 3.2859316 1331 9 131197896 131197896 G A intronic CERCAM NA NA NA intronic ENSG00000167123 NA NA NA NA NA 9q34.11 NA NA NA NA rs7040989 0.31 0.31 0.351 0.340455 0.2445 0.4107 0.2075 0.4501 0.3129 0.24 0.39 0.18 0.42 0.2647 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.011017 NA NA 0.205164 0.437585 NA 0.348 NA 3.285636 1331 16 28846840 28846840 T G intronic ATXN2L NA NA NA ncRNA_intronic ENSG00000260570 NA NA NA NA NA 16p11.2 NA NA NA NA rs56404918 0.27 0.27 0.219 0.261382 0.329 0.126 0.487 0.2277 0.2168 0.34 0.13 0.41 0.21 0.3423 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.695306 NA NA 0.376454 0.265362 NA 0.123 NA 3.2855793 1332 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 1332 1 109369791 109369791 G A intronic AKNAD1 NA NA NA intronic ENSG00000162641 NA NA NA NA NA 1p13.3 NA NA NA NA rs11102505 0.24 0.24 0.219 0.229633 0.2396 0.124 0.1945 0.348 0.1933 0.25 0.12 0.2 0.39 0.2353 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.204491 NA NA 0.240521 0.344303 NA 0.384 NA 3.284579 1332 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 1332 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 1332 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 1332 2 191841759 191841759 G A intronic STAT1 NA NA NA intronic ENSG00000115415 NA NA NA NA NA 2q32.2 NA NA NA NA rs2066804 0.28 0.28 0.264 0.226637 0.2505 0.4365 0.1369 0.1369 0.1708 0.25 0.46 0.15 0.19 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 -0.014296 NA NA 0.239651 0.173854 NA 0.167 NA 3.283849 1332 3 134080661 134080661 A G intronic AMOTL2 NA NA NA intronic ENSG00000114019 NA NA NA NA NA 3q22.2 NA Name=Pol2 Name=7 NA rs1077718 0.93 0.93 0.939 0.934704 0.8986 0.9623 0.9107 0.9932 0.8814 0.89 0.95 0.9 0.99 0.9194 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 0.80378 NA NA 0.898355 0.980342 NA 0.899 NA 3.283645 1332 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 1332 11 67071584 67071584 C G intronic SSH3 NA NA NA UTR3 ENSG00000172830 ENST00000532881:c.*56C>G NA NA NA NA 11q13.2 NA Name=GATA3_(SC-268),c-Myc,GABP,CTCF,HA-E2F1,Pol2 Name=19 NA rs4244822 0.9 0.9 0.894 0.910743 0.9642 0.8879 0.9467 0.82 0.9765 0.96 0.88 0.95 0.81 0.952 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 0.150935 NA NA 0.966849 0.850607 NA 0.717 NA 3.2836177 1332 17 73570774 73570774 G A intronic LLGL2 NA NA NA intronic ENSG00000073350 NA NA NA NA NA 17q25.1 NA NA NA NA rs1671016 0.29 0.29 0.314 0.266374 0.2316 0.1508 0.1888 0.531 0.1186 0.24 0.14 0.18 0.61 0.2359 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113609 NA NA 0.248895 0.498183 NA 0.304 NA 3.283605 1332 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 1332 1 171227216 171227216 T C intronic FMO1 NA NA NA UTR5 ENSG00000010932 ENST00000354841:c.-11T>C NA NA NA NA 1q24.3 NA NA NA NA rs10912675 0.37 0.37 0.403 0.419329 0.2833 0.1855 0.3444 0.7663 0.3845 0.28 0.19 0.33 0.75 0.3217 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 0.255782 NA NA 0.278953 0.675443 NA 0.478 NA 3.2827137 1332 14 92189366 92189366 T A intronic CATSPERB NA NA NA intronic ENSG00000133962 NA NA NA NA NA 14q32.12 NA NA NA NA rs17127513 0.21 0.21 0.198 0.249002 0.2346 0.3591 0.2349 0.0348 0.4499 0.23 0.35 0.2 0.04 0.25 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447068 NA NA 0.232907 0.06877 ID=COSN164768;OCCURENCE=1(breast) 0.159 NA 3.282493 1332 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 1332 1 147131945 147131945 T C intronic ACP6 NA NA NA intronic ENSG00000162836 NA NA NA NA NA 1q21.2 NA NA NA NA rs2275552 0.74 0.74 0.735 0.70028 0.7187 0.7163 0.7622 0.7345 0.5746 0.73 0.73 0.75 0.75 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 0.159084 NA NA NA NA NA 0.761 NA 3.2813 1332 3 27446285 27446285 T A intronic SLC4A7 NA NA NA intronic ENSG00000033867 NA NA NA NA NA 3p24.1 NA NA NA NA rs13063291 0.14 0.14 0.111 0.135383 0.2465 0.0565 0.1744 0.0492 0.1912 0.24 0.03 0.21 0.05 0.2082 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.9651 1.9651 NA 0.264342 0.084626 NA 0.094 NA 3.280958 1332 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 1332 16 55363238 55363238 G A intronic IRX6 NA NA NA ncRNA_intronic ENSG00000259283 NA NA NA NA NA 16q12.2 NA NA NA NA rs31087 0.35 0.35 0.329 0.333267 0.3429 0.4514 0.3401 0.1982 0.3793 0.34 0.47 0.31 0.25 0.3595 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.847094 NA NA 0.350163 0.232346 NA 0.341 NA 3.2807703 1332 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 1332 11 20699394 20699394 C G intronic NELL1 NA NA NA intronic ENSG00000165973 NA NA NA NA NA 11p15.1 NA NA NA NA rs1793003 0.61 0.61 0.61 0.570887 0.7197 0.4812 0.6542 0.4523 0.6115 0.73 0.48 0.68 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 0.642181 NA NA NA NA NA 0.587 NA 3.2803 1332 8 12879062 12879062 T C exonic KIAA1456 NA synonymous SNV KIAA1456:NM_001099677:exon2:c.T496C:p.L166L,KIAA1456:NM_020844:exon5:c.T874C:p.L292L exonic ENSG00000250305 NA synonymous SNV ENSG00000250305:ENST00000524591:exon5:c.T874C:p.L292L NA NA 8p22 NA NA NA NA rs503550 0.75 0.75 0.714 0.711462 0.8221 0.7937 0.7622 0.5862 0.6462 0.82 0.78 0.77 0.59 0.7609 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 -0.127738 NA NA 0.803415 0.632479 NA 0.71 NA 3.2802516 1332 15 45408933 45408933 T C intronic DUOXA2 NA NA NA intronic ENSG00000140274 NA NA NA NA NA 15q21.1 NA Name=SUZ12 Name=12 NA rs2576092 0.8 0.8 0.772 0.764177 0.9254 0.9554 0.8026 0.3306 0.9601 0.93 0.95 0.85 0.4 0.8765 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 1.270218 1.270218 NA 0.917933 0.431319 NA 0.826 NA 3.280167 1332 12 10748314 10748314 C T ncRNA_exonic KLRAP1 NA NA NA ncRNA_exonic ENSG00000256667 NA NA NA NA NA 12p13.2 NA NA NA NA rs2168749 0.29 0.29 0.277 0.295527 0.4821 0.1429 0.3804 0.1732 0.3661 0.45 0.12 0.38 0.18 0.4033 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.472237 NA 0.42 0.501978 0.230368 NA 0.355 NA 3.2792886 1332 4 76861137 76861137 G C intronic NAAA NA NA NA intronic ENSG00000138744 NA NA NA NA NA 4q21.1 NA Name=Pol2,GATA-1 Name=142 NA rs6847716 0.82 0.82 0.809 0.808906 0.9225 0.9435 0.7997 0.528 0.9397 0.93 0.94 0.81 0.5 0.8828 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 0.268278 NA NA 0.915424 0.580843 NA 0.659 NA 3.279276 1332 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 1332 8 12879334 12879334 T C exonic KIAA1456 NA synonymous SNV KIAA1456:NM_001099677:exon2:c.T768C:p.V256V,KIAA1456:NM_020844:exon5:c.T1146C:p.V382V exonic ENSG00000250305 NA synonymous SNV ENSG00000250305:ENST00000524591:exon5:c.T1146C:p.V382V NA NA 8p22 NA NA NA NA rs608909 0.75 0.75 0.717 0.709065 0.8221 0.7937 0.7608 0.5779 0.6462 0.82 0.78 0.77 0.58 0.7614 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 -0.058577 NA NA 0.804021 0.626522 NA 0.71 NA 3.2791456 1332 1 12175818 12175818 A G intronic TNFRSF8 NA NA NA intronic ENSG00000120949 NA NA NA NA NA 1p36.22 NA NA NA NA rs598661 0.37 0.37 0.361 0.399561 0.2008 0.381 0.4121 0.5711 0.3824 0.2 0.41 0.36 0.6 0.3032 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.21419 NA NA 0.217093 0.493418 NA 0.413 NA 3.278907 1332 19 2111649 2111649 T C intronic AP3D1 NA NA NA intronic ENSG00000065000 NA NA NA NA NA 19p13.3 NA NA NA NA rs2074959 0.32 0.32 0.308 0.326478 0.1968 0.3363 0.2075 0.4909 0.3119 0.19 0.38 0.22 0.52 0.3212 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.318194 NA NA 0.203201 0.402555 NA 0.268 NA 3.278799 1332 1 109656981 109656981 T C intronic KIAA1324 NA NA NA intronic ENSG00000116299 NA NA NA NA NA 1p13.3 NA NA NA NA rs586530 0.36 0.36 0.34 0.392572 0.2127 0.4167 0.3602 0.6672 0.2045 0.21 0.4 0.31 0.6 0.3401 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.597598 1.597598 NA 0.168534 0.540737 NA 0.42 NA 3.278666 1332 19 54756657 54756657 C T intronic LILRB5 NA NA NA intronic ENSG00000105609 NA NA NA NA NA 19q13.42 NA NA NA NA rs434755 0.8 0.8 0.807 0.798522 0.7217 0.8968 0.7392 0.7753 0.8497 0.7 0.95 0.77 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 0.945783 NA NA NA NA NA 0.775 NA 3.2783 1332 10 13743517 13743517 G A intronic FRMD4A NA NA NA intronic ENSG00000151474 NA NA NA NA NA 10p13 NA NA NA NA rs1541004 0.21 0.21 0.22 0.200479 0.2386 0.1766 0.219 0.2345 0.1268 0.26 0.16 0.2 0.22 0.2338 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.016008 NA NA 0.25 0.27054 NA 0.145 NA 3.2776 1332 1 215848641 215848641 T C exonic USH2A NA synonymous SNV USH2A:NM_206933:exon63:c.A12612G:p.T4204T exonic ENSG00000042781 NA synonymous SNV ENSG00000042781:ENST00000307340:exon63:c.A12612G:p.T4204T,ENSG00000042781:ENST00000366943:exon63:c.A12612G:p.T4204T NA NA 1q41 NA NA NA NA rs2797235 0.71 0.71 0.699 0.689696 0.8091 0.6429 0.7954 0.6127 0.6442 0.8 0.62 0.76 0.63 0.7662 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 -0.349117 NA NA 0.813953 0.638221 ID=COSM146765;OCCURENCE=1(stomach) 0.717 NA 3.2774136 1332 20 3214126 3214126 C T intronic SLC4A11 NA NA NA intronic ENSG00000088836 NA NA NA NA NA 20p13 NA NA NA NA rs3803955 0.23 0.23 0.197 0.2498 0.2396 0.3026 0.3516 0.0144 0.4519 0.25 0.33 0.32 0.02 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 -0.018359 NA NA 0.23186 0.052882 NA 0.203 NA 3.27734 1332 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 1332 8 26906309 26906309 A C intergenic ADRA1A,STMN4 dist=183387;dist=187505 NA NA downstream ENSG00000221616 NA NA NA NA NA 8p21.2 NA NA NA NA rs62502069 0.15 0.15 0.128 0.138778 0.2227 0.1141 0.1744 0.0514 0.1708 0.23 0.1 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 0.268326 NA NA NA NA NA 0.21 NA 3.2773 1332 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 1332 12 57594955 57594955 G A intronic LRP1 NA NA NA intronic ENSG00000123384 NA NA NA NA NA 12q13.3 NA NA NA NA rs11172124 0.2 0.2 0.162 0.162939 0.2505 0.123 0.2277 0.143 0.0951 0.25 0.13 0.23 0.2 0.222 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336314 NA NA 0.250581 0.167272 NA 0.109 NA 3.276919 1332 5 180057504 180057504 G A intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA rs12719871 0.22 0.22 0.202 NA NA NA NA NA NA 0.39 0.07 0.34 0.07 0.3319 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.856063 NA NA 0.391223 0.117162 NA 0.275 NA 3.276877 1332 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 1332 20 138148 138148 C T UTR5 DEFB127 NM_139074:c.-38C>T NA NA UTR5 ENSG00000088782 ENST00000382388:c.-38C>T NA NA NA NA 20p13 NA NA NA NA rs2298109 0.33 0.33 0.309 0.332867 0.3419 0.5407 0.3501 0.0764 0.4438 0.34 0.49 0.37 0.08 0.3624 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753589 NA NA 0.352558 0.114843 NA 0.167 NA 3.2764754 1332 19 7615585 7615585 T G intronic PNPLA6 NA NA NA intronic ENSG00000032444 NA NA NA NA NA 19p13.2 NA NA NA NA rs577219 0.65 0.65 0.627 0.66853 0.7237 0.5694 0.7637 0.5673 0.7832 0.7 0.58 0.75 0.56 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 -0.519647 NA NA NA NA NA 0.696 NA 3.2763 1332 11 10508938 10508938 T C intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA NA NA 11p15.4 NA NA NA NA rs3802917 0.23 0.23 0.229 0.272364 0.2475 0.2421 0.1801 0.2436 0.4335 0.25 0.24 0.19 0.22 0.2501 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.921963 NA NA 0.226246 0.239437 NA 0.232 NA 3.276154 1332 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 1332 6 170155331 170155331 A T intronic C6orf70 NA NA NA intronic ENSG00000130023 NA NA NA NA NA 6q27 NA NA NA NA rs6459658 0.3 0.3 0.313 0.324081 0.2366 0.3284 0.2983 0.4198 0.2986 0.25 0.32 0.28 0.36 0.2641 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533284 NA NA 0.223488 0.403087 NA 0.283 NA 3.275812 1332 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 1332 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 1332 16 20376734 20376734 A G intronic PDILT NA NA NA intronic ENSG00000169340 NA NA NA NA NA 16p12.3 Score=862;Name=V$NKX3A_01 NA NA NA rs8052918 0.48 0.48 0.483 0.477835 0.5765 0.2063 0.4467 0.6339 0.4673 0.58 0.22 0.46 0.63 0.5422 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.599792 NA NA 0.606279 0.592601 NA 0.471 NA 3.275021 1333 22 50853134 50853134 C T intronic PPP6R2 NA NA NA intronic ENSG00000100239 NA NA NA NA NA 22q13.33 NA NA NA NA rs115621755 NA NA NA 0.398163 0.327 0.6925 0.451 0.2262 0.363 NA NA NA NA 0.3984 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.94676 NA NA NA NA NA NA NA 3.2746 1333 17 18043766 18043766 C G intronic MYO15A NA NA NA intronic ENSG00000091536 NA NA NA NA NA 17p11.2 NA NA NA NA rs854780 0.72 0.72 0.72 0.680312 0.7256 0.5972 0.7651 0.8026 0.4939 0.73 0.61 0.74 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 -0.357668 NA NA NA NA NA 0.746 NA 3.2744 1333 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 1333 19 49851941 49851941 G A intronic TEAD2 NA NA NA intronic ENSG00000074219 NA NA NA NA NA 19q13.33 NA NA NA NA rs254661 0.25 0.25 0.253 0.239217 0.2565 0.1915 0.17 0.3328 0.1933 0.24 0.21 0.2 0.37 0.2242 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644621 NA NA 0.246047 0.343395 NA 0.333 NA 3.273253 1333 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 1333 17 7192091 7192091 C T UTR3 YBX2 NM_015982:c.*16G>A NA NA UTR3 ENSG00000006047 ENST00000007699:c.*16G>A,ENST00000571464:c.*16G>A NA NA Score=524;Name=lod=180 NA 17p13.1 NA NA NA NA rs222842 0.5 0.5 0.463 0.473442 0.7068 0.3571 0.5331 0.3041 0.5399 0.7 0.36 0.59 0.28 0.6292 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.916225 2.916225 NA 0.724419 0.370177 NA 0.486 NA 3.2729144 1333 19 49794028 49794028 G T intronic SLC6A16 NA NA NA intronic ENSG00000063127 NA NA NA NA NA 19q13.33 NA NA NA NA rs45549132 0.29 0.29 0.305 0.352636 0.1998 0.3333 0.2363 0.5106 0.3988 0.2 0.31 0.23 0.44 0.3113 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271471 NA NA 0.216011 0.435963 NA 0.319 NA 3.272889 1333 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 1333 6 160579527 160579527 C T intronic SLC22A1 NA NA NA intronic ENSG00000175003 NA NA NA NA NA 6q25.3 NA NA NA NA rs622591 0.34 0.34 0.31 0.34405 0.2177 0.5179 0.3213 0.2882 0.3865 0.24 0.54 0.3 0.3 0.2939 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.078229 NA NA 0.21593 0.274172 NA 0.319 NA 3.27247 1333 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=TAF7_(SQ-8),Pol2(phosphoS2),USF2,Pol2,BCLAF1_(M33-P5B11),KAP1,HEY1,Pol2-4H8,NFKB,NRSF,Sin3Ak-20,ZBTB33,CEBPB,Pol2(b) 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 1333 4 177049880 177049880 T C intronic WDR17 NA NA NA intronic ENSG00000150627 NA NA NA NA NA 4q34.2 NA NA NA NA rs28607147 0.2 0.2 0.211 0.22504 0.2505 0.1617 0.1383 0.2685 0.2669 0.25 0.12 0.16 0.26 0.23 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.540663 2.540663 NA 0.247262 0.267151 NA 0.203 NA 3.272238 1333 21 30318466 30318466 T G intronic LTN1 NA NA NA intronic ENSG00000198862 NA NA NA NA NA 21q21.3 NA NA NA NA rs2243552 0.45 0.45 0.455 0.407748 0.2286 0.7123 0.402 0.4902 0.1708 0.24 0.72 0.42 0.48 0.2825 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.012902 NA NA 0.216733 0.434605 NA 0.384 NA 3.272167 1333 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 1333 19 16045141 16045141 T C exonic CYP4F11 NA synonymous SNV CYP4F11:NM_021187:exon1:c.A78G:p.G26G,CYP4F11:NM_001128932:exon2:c.A78G:p.G26G exonic ENSG00000171903 NA synonymous SNV ENSG00000171903:ENST00000326742:exon1:c.A78G:p.G26G,ENSG00000171903:ENST00000402119:exon1:c.A78G:p.G26G,ENSG00000171903:ENST00000248041:exon2:c.A78G:p.G26G NA NA 19p13.12 NA NA NA NA rs2305801 0.8 0.8 0.753 0.789736 0.7813 0.9921 0.8184 0.5635 0.8753 0.79 0.99 0.79 0.6 0.814 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 0.096096 NA NA 0.8 0.585792 NA 0.725 NA 3.2713666 1333 3 160003677 160003677 T C intronic IFT80 NA NA NA intronic ENSG00000068885,ENSG00000248710 NA NA NA NA NA 3q25.33 NA NA NA NA rs2275151 0.18 0.18 0.153 0.158147 0.2356 0.1329 0.2435 0.0461 0.1953 0.25 0.14 0.22 0.07 0.2429 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.521725 3.521725 NA 0.250408 0.087648 NA 0.174 NA 3.271092 1333 9 139959292 139959292 C G intronic SAPCD2 NA NA NA intronic ENSG00000186193 NA NA NA NA NA 9q34.3 NA NA NA NA rs9314873 0.23 0.23 0.188 0.206869 0.2247 0.3363 0.317 0.0484 0.1912 0.22 0.34 0.3 0.07 0.2811 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23491 NA NA 0.223287 0.086657 NA 0.159 NA 3.270913 1333 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 1333 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 1333 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 1333 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 1333 14 35245748 35245748 A G intronic BAZ1A NA NA NA intronic ENSG00000198604 NA NA NA NA NA 14q13.1 NA NA NA NA rs17102726 0.2 0.2 0.202 0.173922 0.2525 0.2202 0.147 0.0688 0.2065 0.27 0.23 0.19 0.08 0.2295 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120425 NA NA 0.247758 0.09655 NA 0.13 NA 3.270242 1333 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 1333 21 47417975 47417975 A G intronic COL6A1 NA NA NA intronic ENSG00000142156 NA NA NA NA NA 21q22.3 NA NA NA NA rs3737437 0.9 0.9 0.893 0.883387 0.8777 0.8562 0.9395 0.9728 0.7566 0.87 0.87 0.94 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 -0.370714 NA NA 0.852201 0.950796 NA 0.928 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079759.1;CLNDSDB=.;CLNDSDBID=. 3.270099 1333 8 27509153 27509153 G A intronic SCARA3 NA NA NA intronic ENSG00000168077 NA NA NA NA NA 8p21.1 NA NA NA NA rs2246847 0.19 0.19 0.183 0.197484 0.2594 0.1875 0.2795 0.0507 0.2843 0.25 0.17 0.27 0.08 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 2.928211 2.928211 NA 0.23907 0.088289 NA 0.275 NA 3.27003 1333 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 1333 19 53958263 53958263 G A exonic ZNF761 NA nonsynonymous SNV ZNF761:NM_001008401:exon7:c.G502A:p.V168I ncRNA_exonic ENSG00000160336 NA NA NA NA NA 19q13.42 NA NA NA NA rs1984432 0.74 0.74 0.714 0.744808 0.7445 0.5734 0.8055 0.857 0.727 0.75 0.57 0.8 0.87 0.7497 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 -0.361168 NA 1 0.736163 0.833636 NA 0.775 NA 3.269637 1333 X 21985464 21985464 C T intronic SMS NA NA NA intronic ENSG00000102172 NA NA NA NA NA Xp22.11 NA NA NA NA rs3747276 0.49 0.49 0.49364 NA NA NA NA NA NA 0.33 0.3 0.49 0.94 0.3899 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 0.022966 NA NA 0.340517 0.859713 NA 0.507 NA 3.269583 1333 1 76252011 76252011 G A intronic RABGGTB NA NA NA intronic ENSG00000117054,ENSG00000137955 NA NA NA NA NA 1p31.1 NA Name=POU2F2,GTF2B,NRSF,Ini1,TCF12,Sin3Ak-20,TAF7_(SQ-8),Rad21,Oct-2,Nrf1,p300_(N-15),Pol2,Pol2(phosphoS2),YY1_(C-20),BCLAF1_(M33-P5B11),HEY1,ELF1_(SC-631),ETS1,GTF2F1_(RAP-74),YY1,WHIP,Pol2-4H8,MEF2A,RFX5_(N-494),TAF1,Pol2(b),TBP,NFKB NA NA rs1146634 0.49 0.49 0.501 0.493011 0.6113 0.0397 0.5303 0.792 0.408 0.59 0.04 0.56 0.79 0.523 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 0.084994 NA NA 0.596146 0.723813 NA 0.486 NA 3.269554 1333 1 46487560 46487560 A G intronic MAST2 NA NA NA intronic ENSG00000086015 NA NA NA NA NA 1p34.1 NA NA NA NA rs946524 0.67 0.67 0.635 0.624601 0.7306 0.7083 0.6153 0.528 0.5665 0.72 0.7 0.65 0.56 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 1.107886 NA NA NA NA NA 0.551 NA 3.2694 1333 11 119227844 119227844 G C intronic USP2 NA NA NA intronic ENSG00000036672 NA NA NA NA NA 11q23.3 NA NA NA NA rs11217253 0.72 0.72 0.694 0.716254 0.7306 0.8641 0.6412 0.5772 0.7904 0.73 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 0.105005 NA NA NA NA NA 0.123 NA 3.2694 1333 12 78571490 78571490 T C intronic NAV3 NA NA NA intronic ENSG00000067798 NA NA NA NA NA 12q21.2 NA NA NA NA rs958836 0.23 0.23 0.23 0.239617 0.2525 0.2063 0.2104 0.2837 0.2219 0.23 0.2 0.23 0.27 0.2376 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.042296 NA NA 0.240583 0.246575 NA 0.159 NA 3.269317 1333 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 1333 4 177049854 177049854 C T intronic WDR17 NA NA NA intronic ENSG00000150627 NA NA NA NA NA 4q34.2 NA NA NA NA rs28698547 0.22 0.22 0.221 0.241414 0.2505 0.1617 0.1441 0.3275 0.2669 0.25 0.12 0.17 0.33 0.2341 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.735603 NA NA 0.246444 0.310854 NA 0.217 NA 3.268956 1333 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 1333 15 89398330 89398330 G A exonic ACAN NA synonymous SNV ACAN:NM_001135:exon12:c.G2514A:p.S838S,ACAN:NM_013227:exon12:c.G2514A:p.S838S exonic ENSG00000157766 NA synonymous SNV ENSG00000157766:ENST00000561243:exon11:c.G2514A:p.S838S,ENSG00000157766:ENST00000352105:exon12:c.G2514A:p.S838S,ENSG00000157766:ENST00000439576:exon12:c.G2514A:p.S838S,ENSG00000157766:ENST00000559004:exon12:c.G2514A:p.S838S NA NA 15q26.1 NA NA NA NA rs3743399 0.73 0.73 0.778 0.758986 0.8101 0.4911 0.6527 0.9909 0.7444 0.82 0.45 0.68 0.99 0.7644 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 0.235404 NA NA 0.823451 0.96062 NA 0.79 NA 3.2687156 1333 7 47408974 47408974 T A exonic TNS3 NA synonymous SNV TNS3:NM_022748:exon17:c.A1269T:p.A423A exonic ENSG00000136205 NA synonymous SNV ENSG00000136205:ENST00000311160:exon17:c.A1269T:p.A423A,ENSG00000136205:ENST00000398879:exon17:c.A1269T:p.A423A,ENSG00000136205:ENST00000450444:exon17:c.A1536T:p.A512A,ENSG00000136205:ENST00000457718:exon17:c.A1578T:p.A526A NA NA 7p12.3 NA NA NA NA rs1534136 0.67 0.67 0.645 0.635583 0.833 0.4593 0.6859 0.584 0.6483 0.83 0.45 0.74 0.62 0.7375 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 -1.035411 NA NA 0.827598 0.624881 NA 0.717 NA 3.2685686 1333 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 1333 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 1333 18 29049018 29049018 C T intronic DSG3 NA NA NA intronic ENSG00000134757 NA NA NA NA NA 18q12.1 NA NA NA NA rs11660216 0.14 0.14 0.131 0.121605 0.2684 0.0169 0.1571 0.0703 0.1227 0.26 0.02 0.18 0.07 0.2007 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098033 NA NA 0.262674 0.108715 NA 0.196 NA 3.268226 1333 11 5841856 5841856 C T exonic OR52N2 NA synonymous SNV OR52N2:NM_001005174:exon1:c.C291T:p.N97N exonic ENSG00000180988 NA synonymous SNV ENSG00000180988:ENST00000317037:exon1:c.C291T:p.N97N NA NA 11p15.4 NA NA NA NA rs4758435 0.73 0.73 0.736 0.738618 0.8191 0.6687 0.7133 0.7231 0.7669 0.82 0.66 0.71 0.69 0.7717 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 -1.983597 NA NA 0.808077 0.74557 NA 0.71 NA 3.2677896 1333 21 48063476 48063476 C G exonic PRMT2 NA synonymous SNV PRMT2:NM_001242864:exon3:c.C69G:p.A23A,PRMT2:NM_001242865:exon3:c.C69G:p.A23A,PRMT2:NM_001242866:exon3:c.C69G:p.A23A,PRMT2:NM_001535:exon3:c.C69G:p.A23A,PRMT2:NM_206962:exon4:c.C69G:p.A23A exonic ENSG00000160310 NA synonymous SNV ENSG00000160310:ENST00000291705:exon3:c.C69G:p.A23A,ENSG00000160310:ENST00000334494:exon3:c.C69G:p.A23A,ENSG00000160310:ENST00000397628:exon3:c.C69G:p.A23A,ENSG00000160310:ENST00000397637:exon3:c.C69G:p.A23A,ENSG00000160310:ENST00000397638:exon3:c.C69G:p.A23A,ENSG00000160310:ENST00000440086:exon3:c.C69G:p.A23A,ENSG00000160310:ENST00000451211:exon3:c.C69G:p.A23A,ENSG00000160310:ENST00000458387:exon3:c.C69G:p.A23A,ENSG00000160310:ENST00000355680:exon4:c.C69G:p.A23A NA NA 21q22.3 NA NA NA NA rs10854485 0.83 0.83 0.831 0.863019 0.8032 0.9067 0.8718 0.8608 0.8763 0.79 0.89 0.82 0.85 0.8119 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 0.173319 NA NA 0.784419 0.847935 NA 0.884 NA 3.2671476 1333 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 1333 1 158647669 158647669 T C intronic SPTA1 NA NA NA intronic ENSG00000163554 NA NA NA NA NA 1q23.1 NA Name=Pol2 NA NA rs703122 0.51 0.51 0.473 0.453874 0.6153 0.5833 0.5058 0.2262 0.4254 0.63 0.55 0.51 0.27 0.5453 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.580833 NA NA 0.572474 0.27594 NA 0.471 NA 3.266926 1333 12 56993714 56993714 C T intronic BAZ2A NA NA NA intronic ENSG00000076108 NA NA NA NA NA 12q13.3 NA NA NA NA rs2256341 0.2 0.2 0.203 0.186901 0.2505 0.2282 0.2421 0.1029 0.1534 0.25 0.21 0.2 0.09 0.2205 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214713 NA NA 0.262198 0.110174 NA 0.261 NA 3.266802 1333 17 42852061 42852061 C T intronic ADAM11 NA NA NA intronic ENSG00000073670 NA NA NA NA NA 17q21.31 NA NA NA NA rs12942192 0.21 0.21 0.189 0.214058 0.2376 0.0704 0.2104 0.3563 0.1483 0.24 0.05 0.25 0.32 0.2302 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.6765 1.6765 NA 0.265465 0.321834 NA 0.239 NA 3.266735 1333 20 62076743 62076743 C A intronic KCNQ2 NA NA NA intronic ENSG00000075043 NA NA NA NA NA 20q13.33 NA NA NA NA rs6062939 0.15 0.15 0.153 0.139776 0.2565 0.0437 0.1282 0.121 0.1524 0.27 0.05 0.15 0.1 0.2011 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.18729 NA NA 0.275762 0.133288 NA 0.13 NA 3.266638 1333 9 140329618 140329618 A G intronic ENTPD8 NA NA NA intronic ENSG00000188833 NA NA NA NA NA 9q34.3 NA NA NA NA rs28589413 0.22 0.22 0.181 0.220847 0.2376 0.0129 0.4049 0.3268 0.1442 0.24 0.01 0.39 0.32 0.251 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449459 NA NA 0.245052 0.284049 NA 0.232 NA 3.266348 1333 11 35327825 35327825 A G intronic SLC1A2 NA NA NA intronic ENSG00000110436 NA NA NA NA NA 11p13 NA NA NA NA rs3895234 0.23 0.23 0.22 0.180511 0.2624 0.1905 0.2464 0.1415 0.092 0.27 0.24 0.25 0.15 0.2286 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.931045 NA NA 0.243369 0.1401 NA 0.138 NA 3.265631 1333 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 1333 4 169369820 169369820 T A exonic DDX60L NA synonymous SNV DDX60L:NM_001012967:exon9:c.A1107T:p.I369I exonic ENSG00000181381 NA synonymous SNV ENSG00000181381:ENST00000505863:exon3:c.A291T:p.I97I,ENSG00000181381:ENST00000260184:exon9:c.A1107T:p.I369I,ENSG00000181381:ENST00000505890:exon9:c.A1107T:p.I369I,ENSG00000181381:ENST00000511577:exon9:c.A1107T:p.I369I NA NA 4q32.3 NA NA NA NA rs2712113 0.82 0.82 0.827 0.823882 0.8022 0.9087 0.8242 0.77 0.8313 0.81 0.9 0.81 0.76 0.8137 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 -0.909611 NA NA 0.785346 0.774327 NA 0.841 NA 3.2654206 1333 11 65000719 65000719 C T intergenic SLC22A20,POLA2 dist=7208;dist=28713 NA NA ncRNA_exonic ENSG00000197847 NA NA NA Score=399;Name=lod=56 NA 11q13.1 Score=801;Name=V$YY1_02 NA NA NA rs2904979 0.91 0.91 0.9 0.874601 0.9205 0.9226 0.9107 0.8525 0.7822 0.93 0.91 0.91 0.87 0.8965 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 1.926763 1.926763 1 0.917778 0.86615 NA 0.877 NA 3.265222 1333 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 1333 1 38082123 38082123 C T intronic RSPO1 NA NA NA intronic ENSG00000169218 NA NA NA NA NA 1p34.3 NA NA NA NA rs12046650 0.2 0.2 0.173 0.192492 0.2535 0.2808 0.2104 0.0666 0.1963 0.22 0.29 0.22 0.06 0.2401 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.445131 NA NA 0.241358 0.082477 NA NA NA 3.265042 1333 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 1334 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 1334 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 1334 16 84882974 84882974 C A intronic CRISPLD2 NA NA NA UTR5 ENSG00000103196 ENST00000566789:c.-129C>A NA NA NA NA 16q24.1 NA NA Name=2 NA rs4783087 0.53 0.53 0.523 0.538738 0.6451 0.5972 0.4467 0.3729 0.6585 0.64 0.56 0.48 0.36 0.6017 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 0.235237 NA NA 0.655814 0.375625 NA 0.457 NA 3.2640527 1334 22 50553514 50553514 A T intronic MOV10L1 NA NA NA intronic ENSG00000073146 NA NA NA NA NA 22q13.33 NA NA NA NA rs742183 0.24 0.24 0.208 0.246406 0.2346 0.248 0.3833 0.121 0.3292 0.23 0.31 0.34 0.11 0.2637 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.094962 NA NA 0.237724 0.149545 ID=COSN166795;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.188 NA 3.263976 1334 2 166905480 166905480 G A intronic SCN1A NA NA NA ncRNA_intronic ENSG00000236107 NA NA NA NA NA 2q24.3 NA NA Name=11 NA rs994399 0.72 0.72 0.689 0.709065 0.6909 0.8909 0.7363 0.5575 0.726 0.69 0.89 0.72 0.55 0.7033 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 4.356301 4.356301 NA 0.675285 0.569936 NA 0.601 NA 3.2638483 1334 17 79108318 79108318 T C intronic AATK NA NA NA intronic ENSG00000181409 NA NA NA NA NA 17q25.3 NA NA NA NA rs11658145 0.17 0.17 0.133 0.190096 0.2416 0.0853 0.268 0.1014 0.3098 0.23 0.08 0.26 0.11 0.2462 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129012 NA NA 0.248463 0.133526 NA 0.217 NA 3.263737 1334 16 84088047 84088047 C T UTR3 MBTPS1 NM_003791:c.*7G>A NA NA UTR3 ENSG00000140943 ENST00000343411:c.*7G>A NA NA NA NA 16q23.3 NA NA NA NA rs11607 0.37 0.37 0.366 0.36222 0.3529 0.4107 0.4265 0.3207 0.3323 0.35 0.42 0.41 0.33 0.3727 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.562288 1.562288 0.06 0.344302 0.325455 NA 0.333 NA 3.2634314 1334 9 138517853 138517853 G C intronic GLT6D1 NA NA NA intronic ENSG00000204007 NA NA NA NA NA 9q34.3 NA NA NA NA rs1333241 0.81 0.81 0.798 0.80631 0.7366 0.9435 0.7882 0.77 0.7986 0.73 0.97 0.79 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 -0.58704 NA NA NA NA NA 0.775 NA 3.2634 1334 5 121761021 121761021 G A intronic SNCAIP NA NA NA intronic ENSG00000064692 NA NA NA NA NA 5q23.2 NA NA NA NA rs2242224 0.22 0.22 0.177 0.226038 0.2366 0.2738 0.2695 0.0772 0.3364 0.23 0.28 0.27 0.08 0.2564 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597662 NA NA 0.243721 0.099864 NA 0.196 NA 3.263279 1334 1 112106444 112106444 G A intronic ADORA3 NA NA NA intronic ENSG00000116473,ENSG00000121933 NA NA NA NA NA 1p13.2 NA Name=eGFP-FOS,c-Fos,eGFP-JunD,eGFP-JunB,FOSL2,p300 Name=88 NA rs1591712 0.91 0.91 0.909 0.894768 0.9115 0.9474 0.9222 0.823 0.9008 0.91 0.95 0.91 0.88 0.9086 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 0.427624 NA NA 0.916848 0.847971 NA 0.819 NA 3.263052 1334 5 146775311 146775311 A T intronic DPYSL3 NA NA NA intronic ENSG00000113657 NA NA NA NA NA 5q32 NA NA NA NA rs2288808 0.34 0.34 0.334 0.344649 0.2217 0.5496 0.3343 0.2829 0.3507 0.21 0.56 0.3 0.29 0.2835 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636244 NA NA 0.231813 0.261398 NA 0.283 NA 3.262987 1334 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 1334 17 80583230 80583230 A G intronic WDR45B NA NA NA intronic ENSG00000141580 NA NA NA NA NA 17q25.3 NA NA NA NA rs3826309 0.2 0.2 0.185 0.202676 0.2535 0.1607 0.304 0.1021 0.2577 0.25 0.15 0.28 0.11 0.2319 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.248095 NA NA 0.251628 0.11212 NA 0.261 NA 3.262972 1334 9 35845929 35845929 A C intronic TMEM8B NA NA NA intronic ENSG00000137103 NA NA NA NA NA 9p13.3 NA Name=Pol2-4H8,TAF1 Name=5 NA rs7848557 0.85 0.85 0.85 0.83127 0.9205 0.8264 0.889 0.7201 0.8538 0.92 0.84 0.9 0.72 0.8866 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 0.818088 NA NA 0.929984 0.743415 NA 0.87 NA 3.262916 1334 1 204129671 204129671 A C intronic REN NA NA NA intronic ENSG00000143839 NA NA NA NA NA 1q32.1 NA NA NA NA rs5707 0.3 0.3 0.301 0.28115 0.2495 0.3998 0.2233 0.2837 0.229 0.26 0.37 0.2 0.35 0.2531 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.360748 NA NA 0.234535 0.269632 NA 0.196 NA 3.262865 1334 19 51485622 51485622 A G exonic KLK7 NA nonsynonymous SNV KLK7:NM_001243126:exon2:c.T161C:p.L54P exonic ENSG00000169035 NA synonymous SNV ENSG00000169035:ENST00000304045:exon2:c.T34C:p.L12L,ENSG00000169035:ENST00000391807:exon2:c.T34C:p.L12L,ENSG00000169035:ENST00000595820:exon2:c.T34C:p.L12L NA NA 19q13.41 NA NA NA NA rs2659067 0.95 0.95 0.94 0.957867 0.8986 1 0.9654 0.9614 0.9652 0.9 1 0.96 0.95 0.9315 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.028688 NA NA 0.90705 0.966863 NA 0.812 NA 3.26285 1334 17 42961009 42961009 C T intronic EFTUD2 NA NA NA intronic ENSG00000108883 NA NA NA NA NA 17q21.31 NA NA NA NA rs2289677 0.59 0.59 0.602 0.560503 0.5696 0.4712 0.4697 0.7421 0.4622 0.57 0.49 0.53 0.77 0.5693 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 1.645699 1.645699 NA 0.598256 0.730595 NA 0.522 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116954.2;CLNDSDB=.;CLNDSDBID=. 3.262844 1334 4 68490019 68490019 C T intronic UBA6 NA NA NA intronic ENSG00000033178 NA NA NA NA NA 4q13.2 NA NA NA NA rs10454253 0.21 0.21 0.203 0.184704 0.2575 0.1746 0.2277 0.1906 0.0818 0.26 0.16 0.22 0.17 0.2232 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.088564 NA NA 0.256464 0.193342 NA 0.283 NA 3.262836 1334 2 218694551 218694551 A G intronic TNS1 NA NA NA intronic ENSG00000079308 NA NA NA NA NA 2q35 NA NA NA NA rs16858298 0.22 0.22 0.198 0.234225 0.2256 0.2688 0.2867 0.1362 0.3027 0.23 0.28 0.26 0.13 0.254 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165104 NA NA 0.257674 0.144803 NA 0.181 NA 3.262726 1334 10 13178697 13178697 C A intronic OPTN NA NA NA intronic ENSG00000123240 NA NA NA NA NA 10p13 NA NA NA NA rs10906310 0.27 0.27 0.261 0.284545 0.2386 0.3353 0.2032 0.2852 0.3364 0.24 0.34 0.21 0.26 0.2649 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894206 NA NA 0.233953 0.26305 NA 0.355 NA 3.262547 1334 7 7570959 7570959 T G intronic COL28A1 NA NA NA intronic ENSG00000215018 NA NA NA NA NA 7p21.3 NA NA NA NA rs17168516 0.32 0.32 0.334 0.356829 0.2336 0.2798 0.2349 0.6036 0.316 0.23 0.27 0.24 0.59 0.2703 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250328 NA NA 0.233652 0.541554 ID=COSN167970;OCCURENCE=1(large_intestine) 0.362 NA 3.262448 1334 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 1334 3 108780831 108780831 G A intronic MORC1 NA NA NA intronic ENSG00000114487 NA NA NA NA NA 3q13.13 NA NA NA NA rs7653651 0.15 0.15 0.152 0.148163 0.2575 0.0238 0.1628 0.0908 0.2311 0.27 0.03 0.18 0.1 0.2147 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.741028 NA NA 0.265814 0.133 NA 0.094 NA 3.261986 1334 X 41043944 41043944 T C intronic USP9X NA NA NA intronic ENSG00000124486 NA NA NA NA NA Xp11.4 NA NA NA NA rs5918130 0.21 0.21 0.2186 NA NA NA NA NA NA 0.4 0.09 0.2 0.08 0.3395 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.389689 NA NA 0.398568 0.104616 NA 0.181 NA 3.261932 1334 17 6331836 6331836 T G intronic AIPL1 NA NA NA intronic ENSG00000129221 NA NA NA NA NA 17p13.2 NA NA NA NA rs12453262 0.52 0.52 0.492 0.491014 0.6044 0.499 0.6153 0.3253 0.502 0.61 0.51 0.57 0.36 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 0.519906 NA NA 0.578837 0.385837 NA 0.507 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000086219.1;CLNDSDB=.;CLNDSDBID=. 3.261763 1334 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 1334 11 65649984 65649984 T C exonic CTSW NA synonymous SNV CTSW:NM_001335:exon5:c.T525C:p.D175D exonic ENSG00000172543 NA synonymous SNV ENSG00000172543:ENST00000307886:exon5:c.T525C:p.D175D,ENSG00000172543:ENST00000526034:exon5:c.T522C:p.D174D,ENSG00000172543:ENST00000528419:exon5:c.T525C:p.D175D NA NA 11q13.1 NA NA NA NA rs687672 0.68 0.68 0.668 0.696685 0.8111 0.5903 0.7839 0.4947 0.8998 0.82 0.58 0.79 0.53 0.7881 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 -0.35299 NA NA 0.806448 0.565198 NA 0.746 NA 3.2610186 1334 10 12123666 12123666 C T intronic DHTKD1 NA NA NA intronic ENSG00000181192 NA NA NA NA NA 10p14 NA NA Name=3 NA rs10906066 0.46 0.46 0.475 0.475439 0.5905 0.4782 0.464 0.1778 0.7648 0.59 0.48 0.49 0.22 0.5584 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.571037 NA NA 0.590116 0.239219 NA 0.355 NA 3.260984 1334 11 116693464 116693464 C T exonic APOA4 NA synonymous SNV APOA4:NM_000482:exon2:c.G87A:p.T29T exonic ENSG00000110244 NA synonymous SNV ENSG00000110244:ENST00000357780:exon2:c.G87A:p.T29T NA NA 11q23.3 NA NA NA NA rs5092 0.75 0.75 0.761 0.719848 0.7982 0.5823 0.7233 0.8578 0.592 0.8 0.58 0.78 0.85 0.7738 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 -0.696593 NA NA 0.833799 0.847796 NA 0.819 NA 3.2608676 1334 3 44932270 44932270 C T intronic TGM4 NA NA NA intronic ENSG00000163810 NA NA NA NA NA 3p21.31 NA NA NA NA rs937837 0.34 0.34 0.313 0.339058 0.2207 0.7887 0.2968 0.0076 0.4755 0.23 0.83 0.26 0.0041 0.2959 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 -0.260708 NA NA 0.222558 0.052882 NA 0.246 NA 3.260842 1334 12 6572048 6572048 A G UTR3 VAMP1 NM_014231:c.*1588T>C,NM_199245:c.*1994T>C NA NA UTR3 ENSG00000139190 ENST00000361716:c.*1994T>C,ENST00000535180:c.*77T>C NA NA Score=309;Name=lod=24 NA 12p13.31 NA NA NA NA rs1045452 0.7 0.7 0.662 0.730032 0.6779 0.7877 0.572 0.7474 0.8129 0.68 0.8 0.6 0.71 0.6972 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 1.821495 1.821495 NA 0.697919 0.722877 NA 0.652 NA 3.2603144 1334 1 38082122 38082122 G A intronic RSPO1 NA NA NA intronic ENSG00000169218 NA NA NA NA NA 1p34.3 NA NA NA NA rs12039431 0.2 0.2 0.191 0.192492 0.2535 0.2808 0.2104 0.0666 0.1963 0.22 0.29 0.22 0.06 0.24 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.177445 NA NA 0.246254 0.083932 NA NA NA 3.260246 1334 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 1334 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 1334 3 108773772 108773772 A G intronic MORC1 NA NA NA intronic ENSG00000114487 NA NA NA NA NA 3q13.13 NA NA NA NA rs7653625 0.15 0.15 0.128 0.149161 0.2575 0.0238 0.1643 0.093 0.2321 0.27 0.03 0.18 0.1 0.2195 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.038964 2.038964 NA 0.263232 0.12844 NA 0.101 NA 3.259768 1334 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 1334 13 36401909 36401909 T C ncRNA_intronic MIR548F5 NA NA NA intronic ENSG00000133083 NA NA NA NA NA 13q13.3 NA NA NA NA rs9574699 0.42 0.42 0.426 0.438299 0.3479 0.5754 0.317 0.5083 0.3814 0.34 0.55 0.33 0.46 0.3694 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.160411 NA NA 0.35686 0.460281 NA 0.377 NA 3.2591733 1334 1 158618455 158618455 G A intronic SPTA1 NA NA NA intronic ENSG00000163554 NA NA NA NA NA 1q23.1 NA NA NA NA rs2246434 0.26 0.26 0.211 0.228235 0.2465 0.3988 0.2839 0.1127 0.1503 0.25 0.38 0.26 0.15 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 0.540546 NA NA 0.241321 0.122234 NA 0.232 NA 3.258779 1334 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 1334 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 1334 19 8127075 8127075 C G intronic CCL25 NA NA NA intronic ENSG00000131142 NA NA NA NA NA 19p13.2 NA NA NA NA rs34145389 0.14 0.14 0.129 0.126398 0.2525 0.0357 0.1614 0.0522 0.1656 0.24 0.05 0.17 0.06 0.2098 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471143 NA NA 0.279322 0.088692 NA 0.232 NA 3.258378 1334 1 171300959 171300959 T C intronic FMO4 NA NA NA intronic ENSG00000076258 NA NA NA NA NA 1q24.3 NA NA NA NA rs2294482 0.3 0.3 0.275 0.284545 0.2435 0.4365 0.4006 0.1377 0.2863 0.24 0.45 0.37 0.16 0.2661 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.728741 NA NA 0.232209 0.151384 NA 0.217 NA 3.258191 1334 9 91262296 91262296 G A UTR3 LOC286238 NM_001100111:c.*8C>T NA NA ncRNA_exonic ENSG00000228189 NA NA NA NA NA 9q22.1 NA NA NA NA rs4543636 0.43 0.43 0.434 0.452276 0.4105 0.1786 0.415 0.7731 0.3701 0.42 0.18 0.43 0.72 0.4121 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278634 NA NA 0.419226 0.7119 NA 0.536 NA 3.258174 1334 4 56291528 56291528 T C intronic TMEM165 NA NA NA intronic ENSG00000134851 NA NA NA NA NA 4q12 NA NA NA NA rs7660517 0.39 0.39 0.338 NA NA NA NA NA NA 0.35 0.59 0.43 0.17 0.3998 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.264129 2.264129 NA 0.342173 0.202224 NA 0.413 NA 3.258027 1334 7 80456841 80456841 C T intronic SEMA3C NA NA NA intronic ENSG00000075223 NA NA NA NA NA 7q21.11 NA Name=CEBPB,p300 Name=36 NA rs4461841 0.93 0.93 0.917 0.944489 0.9095 0.998 0.9424 0.9047 0.9806 0.9 1 0.91 0.89 0.9274 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.964988 NA NA 0.905188 0.894008 NA 0.855 NA 3.257912 1334 11 70179672 70179672 C T intronic PPFIA1 NA NA NA ncRNA_intronic ENSG00000254604 NA NA NA NA NA 11q13.3 NA NA NA NA rs2282481 0.37 0.37 0.381 0.417931 0.3509 0.1508 0.4784 0.6959 0.3436 0.34 0.15 0.44 0.64 0.3865 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282749 NA NA 0.33803 0.617955 NA 0.449 NA 3.2579033 1334 4 68492060 68492060 A G intronic UBA6 NA NA NA intronic ENSG00000033178 NA NA NA NA NA 4q13.2 NA NA NA NA rs34742870 0.21 0.21 0.205 0.190296 0.2575 0.1776 0.2637 0.1906 0.0818 0.26 0.16 0.24 0.17 0.227 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.15794 3.15794 NA 0.257798 0.195731 NA 0.29 NA 3.257702 1334 11 3109403 3109403 A G UTR3 OSBPL5 NM_145638:c.*32T>C,NM_001144063:c.*32T>C,NM_020896:c.*32T>C NA NA UTR3 ENSG00000021762 ENST00000263650:c.*32T>C,ENST00000478260:c.*32T>C,ENST00000389989:c.*32T>C,ENST00000525498:c.*32T>C,ENST00000542243:c.*32T>C,ENST00000471998:c.*1471T>C,ENST00000348039:c.*32T>C NA NA NA NA 11p15.4 NA NA Name=9 NA rs2289999 0.73 0.73 0.699 0.758786 0.6859 0.8056 0.7104 0.7254 0.865 0.69 0.82 0.7 0.73 0.7043 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 -0.067609 NA NA 0.685711 0.735922 NA 0.703 NA 3.2574224 1334 1 38184316 38184316 T C intronic EPHA10 NA NA NA intronic ENSG00000183317 NA NA NA NA NA 1p34.3 NA NA NA NA rs609437 0.17 0.17 0.178 0.169129 0.2644 0.0288 0.1369 0.2352 0.1493 0.25 0.02 0.16 0.24 0.2181 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025156 NA NA 0.260329 0.238279 NA 0.246 NA 3.257171 1334 1 231697030 231697030 G A ncRNA_intronic TSNAX-DISC1 NA NA NA intronic ENSG00000116918,ENSG00000270106 NA NA NA NA NA 1q42.2 NA NA NA NA rs1982095 0.45 0.45 0.453 0.460064 0.339 0.3512 0.5576 0.6861 0.3221 0.34 0.33 0.52 0.72 0.3794 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04762 NA NA 0.357985 0.591342 NA 0.514 NA 3.2569483 1334 1 209936673 209936673 C G intronic TRAF3IP3 NA NA NA intronic ENSG00000009790 NA NA NA NA NA 1q32.2 NA NA NA NA rs7536882 0.32 0.32 0.325 0.363618 0.2386 0.1984 0.281 0.7179 0.2423 0.24 0.18 0.25 0.67 0.2803 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 -0.11385 NA NA 0.224186 0.664775 ID=COSN163424;OCCURENCE=1(breast) 0.42 NA 3.256914 1334 19 16631322 16631322 T C UTR3 C19orf44 NM_032207:c.*458T>C NA NA UTR3 ENSG00000105072 ENST00000221671:c.*458T>C,ENST00000593380:c.*522T>C,ENST00000601109:c.*499T>C NA NA NA NA 19p13.11 NA NA NA NA rs2303119 0.4 0.4 0.408 0.428514 0.3638 0.1974 0.366 0.7587 0.3313 0.37 0.18 0.37 0.73 0.3675 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 -0.932005 NA NA 0.345463 0.687222 NA 0.565 NA 3.2565704 1334 22 36661842 36661842 G A exonic APOL1 NA synonymous SNV APOL1:NM_001136541:exon5:c.G906A:p.R302R,APOL1:NM_001136540:exon6:c.G960A:p.R320R,APOL1:NM_003661:exon6:c.G960A:p.R320R,APOL1:NM_145343:exon7:c.G1008A:p.R336R exonic ENSG00000100342 NA synonymous SNV ENSG00000100342:ENST00000347595:exon3:c.G597A:p.R199R,ENSG00000100342:ENST00000426053:exon5:c.G906A:p.R302R,ENSG00000100342:ENST00000397278:exon6:c.G960A:p.R320R,ENSG00000100342:ENST00000397279:exon6:c.G960A:p.R320R,ENSG00000100342:ENST00000422706:exon6:c.G960A:p.R320R,ENSG00000100342:ENST00000319136:exon7:c.G1008A:p.R336R NA NA 22q12.3 NA NA NA NA rs136177 0.83 0.83 0.819 0.853235 0.7813 0.7966 0.8847 0.9486 0.8344 0.78 0.81 0.85 0.92 0.8319 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 -0.066469 NA NA 0.797326 0.922606 NA 0.935 NA 3.2561406 1334 11 126201458 126201458 A G intronic DCPS NA NA NA intronic ENSG00000110063 NA NA NA NA NA 11q24.2 NA NA NA NA rs651034 0.23 0.23 0.203 0.230032 0.2465 0.2054 0.2695 0.2163 0.229 0.27 0.18 0.28 0.19 0.2427 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.110669 NA NA 0.25477 0.222172 NA 0.203 NA 3.25603 1334 8 134292516 134292516 A G intronic NDRG1 NA NA NA intronic ENSG00000104419 NA NA NA Score=401;Name=lod=57 NA 8q24.22 NA NA NA NA rs2272653 0.62 0.62 0.622 0.613419 0.6083 0.4673 0.5216 0.9221 0.4172 0.6 0.43 0.57 0.9 0.5635 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 -0.341568 NA NA 0.572209 0.854517 NA 0.761 NA 3.255991 1334 1 248570440 248570440 G A downstream OR2T1 NA NA NA downstream ENSG00000175143 NA NA NA NA NA 1q44 NA Name=POU2F2,EBF1_(C-8),BATF,Oct-2,EBF Name=3 NA rs6695780 0.83 0.83 0.808 0.854034 0.7783 0.8621 0.8112 0.879 0.9202 0.8 0.85 0.79 0.86 0.8251 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 0.883811 NA NA 0.807326 0.883341 NA 0.877 NA 3.2559406 1334 6 146268623 146268623 T A intronic SHPRH NA NA NA intronic ENSG00000146414 NA NA NA Score=662;Name=lod=652 NA 6q24.3 NA NA NA NA rs9386141 0.6 0.6 0.547 0.562899 0.5895 0.6944 0.7161 0.4236 0.4796 0.59 0.67 0.7 0.45 0.5704 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 1.784401 1.784401 NA 0.584198 0.472379 NA 0.565 NA 3.255902 1334 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 1334 11 126201290 126201290 A G intronic DCPS NA NA NA intronic ENSG00000110063 NA NA NA NA NA 11q24.2 NA NA NA NA rs651922 0.23 0.23 0.224 0.23103 0.2465 0.2054 0.2695 0.2171 0.2331 0.27 0.18 0.28 0.19 0.2429 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.840104 NA NA 0.25477 0.222626 NA 0.217 NA 3.25583 1334 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 1334 1 209936466 209936466 A G intronic TRAF3IP3 NA NA NA intronic ENSG00000009790 NA NA NA NA NA 1q32.2 NA NA NA NA rs7548219 0.33 0.33 0.328 0.365016 0.2396 0.1984 0.2795 0.7231 0.2423 0.24 0.18 0.25 0.67 0.2796 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 0.147493 NA NA 0.225349 0.666894 ID=COSN163421;OCCURENCE=1(breast) 0.42 NA 3.255451 1335 2 215632256 215632256 A G exonic BARD1 NA synonymous SNV BARD1:NM_000465:exon6:c.T1518C:p.H506H exonic ENSG00000138376 NA synonymous SNV ENSG00000138376:ENST00000449967:exon5:c.T1086C:p.H362H,ENSG00000138376:ENST00000260947:exon6:c.T1518C:p.H506H NA NA 2q35 NA NA NA NA rs2070093 0.73 0.73 0.72 0.770567 0.8181 0.9484 0.7594 0.5545 0.8384 0.76 0.91 0.76 0.46 0.8134 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 0.491453 NA NA 0.780581 0.583522 NA 0.428 NA 3.2545856 1335 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 1335 19 46180150 46180150 A G intronic GIPR NA NA NA intronic ENSG00000010310 NA NA NA NA NA 19q13.32 NA NA NA NA rs4803846 0.8 0.8 0.778 0.788139 0.7455 0.8046 0.8876 0.7693 0.7699 0.73 0.86 0.85 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 0.740185 NA NA NA NA NA 0.681 NA 3.2545 1335 11 3109408 3109408 C T UTR3 OSBPL5 NM_145638:c.*27G>A,NM_001144063:c.*27G>A,NM_020896:c.*27G>A NA NA UTR3 ENSG00000021762 ENST00000263650:c.*27G>A,ENST00000478260:c.*27G>A,ENST00000389989:c.*27G>A,ENST00000534454:c.*27G>A,ENST00000525498:c.*27G>A,ENST00000542243:c.*27G>A,ENST00000471998:c.*1466G>A,ENST00000348039:c.*27G>A NA NA NA NA 11p15.4 NA NA Name=9 NA rs2289998 0.72 0.72 0.713 0.758786 0.6859 0.8056 0.7104 0.7254 0.865 0.68 0.8 0.69 0.71 0.707 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 -0.21587 NA NA 0.686409 0.736483 NA 0.703 NA 3.2540244 1335 20 13605903 13605903 A T intronic TASP1 NA NA NA intronic ENSG00000089123 NA NA NA NA NA 20p12.1 NA NA NA NA rs2070307 0.37 0.37 0.357 0.370008 0.2485 0.2887 0.2478 0.705 0.2127 0.25 0.29 0.3 0.69 0.2665 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 -0.298546 NA NA 0.231395 0.613936 ID=COSM149141;OCCURENCE=1(stomach) 0.333 NA 3.253605 1335 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 1335 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 1335 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 1335 15 85360101 85360101 T C exonic ALPK3 NA synonymous SNV ALPK3:NM_020778:exon1:c.T24C:p.Y8Y exonic ENSG00000136383 NA synonymous SNV ENSG00000136383:ENST00000258888:exon1:c.T24C:p.Y8Y NA NA 15q25.3 NA NA NA NA rs11857356 0.87 0.87 0.863 0.864816 0.7883 0.9494 0.7579 0.9766 0.7812 0.79 0.95 0.77 0.96 0.8189 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 0.074804 NA NA 0.806305 0.951884 NA 0.92 NA 3.2531616 1335 14 50856927 50856927 A G intronic CDKL1 NA NA NA intronic ENSG00000100490 NA NA NA NA NA 14q21.3 NA NA NA NA rs10131126 0.24 0.24 0.236 0.244209 0.2455 0.0437 0.2882 0.4402 0.1534 0.24 0.04 0.29 0.45 0.2418 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.381155 1.381155 NA 0.259669 0.406393 NA 0.326 NA 3.253031 1335 11 57176628 57176628 C T intronic SLC43A3 NA NA NA intronic ENSG00000134802,ENSG00000254979 NA NA NA NA NA 11q12.1 NA NA NA NA rs2241899 0.22 0.22 0.23 0.18151 0.2575 0.2421 0.147 0.1233 0.1442 0.26 0.25 0.18 0.15 0.2239 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918203 NA NA 0.265596 0.159927 NA 0.174 NA 3.253004 1335 14 92549632 92549632 C A intronic ATXN3 NA NA NA intronic ENSG00000066427 NA NA NA NA NA 14q32.12 NA NA NA NA rs12590497 0.32 0.32 0.327 0.338858 0.2237 0.4405 0.1484 0.4274 0.3681 0.23 0.44 0.14 0.43 0.2818 0.44 NA NA 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 0.2418 0.36768 NA 0.319 NA 3.2527 1335 10 3145906 3145906 A C intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs11251719 0.64 0.64 0.639 0.628794 0.7485 0.5496 0.5231 0.6241 0.6687 0.74 0.54 0.59 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 -0.527206 NA NA NA NA NA 0.659 NA 3.2515 1335 11 65789137 65789137 C G intronic CATSPER1 NA NA NA intronic ENSG00000175294 NA NA NA NA NA 11q13.1 NA NA NA NA rs34114713 0.25 0.25 0.197 0.222444 0.2475 0.2321 0.4193 0.2035 0.0726 0.24 0.23 0.35 0.22 0.2617 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.000697 NA NA 0.239348 0.215455 NA 0.181 NA 3.251452 1335 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 1335 4 84240680 84240680 G T intronic HPSE NA NA NA intronic ENSG00000173083 NA NA NA NA NA 4q21.23 NA NA NA NA rs12501124 0.81 0.81 0.828 0.813698 0.7495 0.87 0.6772 0.8782 0.8313 0.77 0.85 0.73 0.87 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 0.222685 NA NA NA NA NA 0.797 NA 3.2505 1335 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 1335 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 1335 10 90490728 90490728 T C intronic LIPK NA NA NA intronic ENSG00000204021 NA NA NA NA NA 10q23.31 NA NA NA NA rs392430 0.24 0.24 0.236 0.257388 0.2137 0.3472 0.2853 0.1899 0.2812 0.21 0.34 0.23 0.18 0.3229 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.648212 4.648212 NA 0.213356 0.186819 NA 0.152 NA 3.250044 1335 6 24489741 24489741 A C UTR5 GPLD1 NM_001503:c.-2T>G NA NA UTR5 ENSG00000112293 ENST00000230036:c.-2T>G NA NA NA NA 6p22.3 NA NA NA NA rs2076316 0.36 0.36 0.352 0.371605 0.3688 0.1706 0.2594 0.6188 0.3272 0.37 0.19 0.31 0.58 0.3495 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.421683 NA NA 0.365 0.558103 NA 0.464 NA 3.2500334 1335 5 61785936 61785936 T C intronic IPO11 NA NA NA intronic ENSG00000086200 NA NA NA Score=251;Name=lod=14 NA 5q12.1 NA NA NA NA rs26644 0.52 0.52 0.528 0.568091 0.5815 0.381 0.5821 0.6006 0.6933 0.57 0.36 0.57 0.61 0.5767 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.087291 NA NA 0.591787 0.597184 NA 0.594 NA 3.250013 1335 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 1335 3 184091149 184091149 G T intronic THPO NA NA NA intronic ENSG00000090534,ENSG00000145191 NA NA NA NA NA 3q27.1 NA NA NA NA rs6142 0.34 0.34 0.356 0.370607 0.3887 0.0615 0.3112 0.6029 0.3988 0.37 0.05 0.37 0.61 0.3619 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.43197 1.43197 NA NA NA NA 0.486 NA 3.2494 1335 16 1843672 1843672 T C UTR5 IGFALS NM_004970:c.-19A>G,NM_001146006:c.-19A>G NA NA UTR5 ENSG00000099769,ENSG00000162032 ENST00000215539:c.-19A>G,ENST00000415638:c.-19A>G;ENST00000569769:c.-12188A>G NA NA NA NA 16p13.3 Score=813;Name=V$AP4_01 NA NA NA rs3817902 0.65 0.65 0.627 0.66873 0.6789 0.5665 0.6816 0.7352 0.6646 0.67 0.55 0.69 0.71 0.6999 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.196096 NA NA 0.70558 0.741198 NA 0.275 NA 3.2489534 1335 4 121702270 121702270 T C intronic PRDM5 NA NA NA intronic ENSG00000138738 NA NA NA NA NA 4q27 NA NA NA NA rs3761721 0.18 0.18 0.169 0.136981 0.2674 0.1885 0.1931 0.0106 0.0808 0.26 0.2 0.23 0.01 0.2113 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45255 NA NA 0.272442 0.054244 ID=COSN167321;OCCURENCE=1(large_intestine) 0.123 NA 3.248858 1335 14 74537885 74537885 T G intronic ALDH6A1 NA NA NA ncRNA_intronic ENSG00000259114 NA NA NA NA NA 14q24.3 NA NA NA NA rs2072293 0.5 0.5 0.52 0.536741 0.3449 0.7956 0.2983 0.5386 0.6339 0.34 0.81 0.3 0.52 0.4111 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 1.074862 NA NA 0.328605 0.519292 NA 0.464 NA 3.2487283 1335 17 78082005 78082005 C T intronic GAA NA NA NA intronic ENSG00000171298 NA NA NA NA NA 17q25.3 NA NA NA NA rs2241887 0.61 0.61 0.605 0.603634 0.7515 0.5437 0.5418 0.5174 0.6738 0.75 0.57 0.54 0.49 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 -0.208811 NA NA NA NA NA 0.645 NA 3.2485 1335 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 1335 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 1335 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 1335 20 76962 76962 T C exonic DEFB125 NA synonymous SNV DEFB125:NM_153325:exon2:c.T375C:p.S125S exonic ENSG00000178591 NA synonymous SNV ENSG00000178591:ENST00000382410:exon2:c.T375C:p.S125S NA NA 20p13 NA NA NA NA rs6111385 0.79 0.79 0.801 0.773363 0.8191 0.7133 0.7911 0.8132 0.7219 0.82 0.72 0.78 0.83 0.7862 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 -0.557363 NA NA 0.814302 0.81616 NA 0.826 NA 3.2470646 1335 7 95035582 95035582 A T intronic PON2 NA NA NA intronic ENSG00000105854 NA NA NA NA NA 7q21.3 NA NA NA NA rs3735586 0.26 0.26 0.24 0.29353 0.2505 0.1885 0.2349 0.3676 0.3875 0.25 0.18 0.24 0.39 0.2746 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.443767 NA NA 0.228256 0.316614 NA 0.246 NA 3.246644 1335 1 65330682 65330682 G A intronic JAK1 NA NA NA intronic ENSG00000162434 NA NA NA NA NA 1p31.3 NA NA NA NA rs2256298 0.35 0.35 0.351 0.367212 0.2256 0.3065 0.3977 0.6248 0.2055 0.21 0.26 0.39 0.63 0.2984 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014788 NA NA 0.229376 0.552989 NA 0.435 NA 3.246624 1335 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 1335 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 1335 16 70187270 70187270 T G intronic PDPR NA NA NA intronic ENSG00000090857 NA NA NA NA NA 16q22.1 NA NA NA NA rs2287980 0.31 0.31 0.301 NA NA NA NA NA NA 0.39 0.24 0.28 0.29 0.3783 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.443867 NA NA 0.375717 0.273134 NA 0.326 NA 3.245983 1335 7 94174854 94174854 T C intronic CASD1 NA NA NA intronic ENSG00000127995 NA NA NA Score=698;Name=lod=915 NA 7q21.3 NA NA NA NA rs3793326 0.57 0.57 0.567 0.560104 0.5934 0.6935 0.5821 0.2897 0.7382 0.59 0.72 0.59 0.33 0.5877 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281935 NA NA 0.573023 0.335906 ID=COSM150329;OCCURENCE=1(stomach) 0.623 NA 3.245877 1335 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 1335 12 53186122 53186122 G A exonic KRT3 NA synonymous SNV KRT3:NM_057088:exon5:c.C1089T:p.R363R exonic ENSG00000186442 NA synonymous SNV ENSG00000186442:ENST00000309505:exon5:c.C1089T:p.R363R,ENSG00000186442:ENST00000417996:exon5:c.C1089T:p.R363R NA NA 12q13.13 NA NA NA NA rs4432093 0.84 0.84 0.824 0.78774 0.8181 0.9147 0.7882 0.8018 0.6063 0.82 0.91 0.83 0.78 0.7935 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 0.44661 NA NA 0.809651 0.812528 NA 0.768 NA 3.2454156 1335 18 28588537 28588537 C T intronic DSC3 NA NA NA intronic ENSG00000134762 NA NA NA NA NA 18q12.1 NA NA NA NA rs1313587 0.32 0.32 0.336 0.342252 0.2406 0.6141 0.1729 0.2882 0.3599 0.22 0.59 0.15 0.27 0.2748 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.491409 NA NA 0.239535 0.29337 NA 0.362 NA 3.245065 1335 3 141682825 141682825 C G intronic TFDP2 NA NA NA intronic ENSG00000114126 NA NA NA NA NA 3q23 NA NA NA NA rs3792409 0.25 0.25 0.258 0.238419 0.2575 0.256 0.2781 0.2466 0.1616 0.25 0.28 0.27 0.21 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 -0.26071 NA NA 0.25405 0.261589 ID=COSN167027;OCCURENCE=1(large_intestine) 0.275 NA 3.24505 1336 20 43926536 43926536 G T intronic MATN4 NA NA NA intronic ENSG00000124159 NA NA NA NA NA 20q13.12 NA NA NA NA rs2227274 0.25 0.25 0.275 0.221446 0.2773 0.1121 0.3429 0.2708 0.1237 0.28 0.13 0.32 0.3 0.2306 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.425911 NA NA 0.247326 0.259873 NA 0.326 NA 3.244774 1336 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=Max,c-Myc,E2F4,Sin3Ak-20,SETDB1,NRSF,Mxi1_(bHLH),STAT3,AP-2gamma,TBP,ZBTB7A_(SC-34508),AP-2alpha,NF-YB,YY1,Pol2(phosphoS2),Pol2,HA-E2F1,E2F6_(H-50),E2F6,TAF1,HMGN3,Pol2-4H8,HEY1,E2F1 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 1336 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 1336 1 43632815 43632815 T G intronic EBNA1BP2 NA NA NA intronic ENSG00000117395 NA NA NA NA NA 1p34.2 NA NA NA NA rs1749438 0.12 0.12 0.151 0.140775 0.2883 NA 0.1513 0.1278 0.1442 0.23 NA 0.15 0.08 0.2105 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125313 NA NA 0.257442 0.118702 NA NA NA 3.243758 1336 1 43632816 43632816 T C intronic EBNA1BP2 NA NA NA intronic ENSG00000117395 NA NA NA NA NA 1p34.2 NA NA NA NA rs1782374 0.12 0.12 0.152 0.140775 0.2883 NA 0.1513 0.1278 0.1442 0.23 NA 0.15 0.08 0.2104 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.341703 NA NA 0.257558 0.119156 NA NA NA 3.243742 1336 2 99272802 99272802 G A intronic MGAT4A NA NA NA intronic ENSG00000071073 NA NA NA NA NA 2q11.2 NA NA NA NA rs11679648 0.13 0.13 0.124 0.10623 0.2664 0.0327 0.1657 0.0121 0.1022 0.25 0.03 0.17 0.02 0.201 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.921086 NA NA 0.28907 0.06877 NA 0.181 NA 3.24353 1336 1 38078630 38078630 A T intronic RSPO1 NA NA NA intronic ENSG00000169218 NA NA NA NA NA 1p34.3 NA NA NA NA rs55852308 0.23 0.23 0.194 0.193091 0.2545 0.2808 0.2118 0.0666 0.1973 0.25 0.33 0.23 0.07 0.2425 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.150674 NA NA 0.259908 0.089503 NA 0.196 NA 3.243092 1336 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 1336 9 44076524 44076524 T C intergenic CNTNAP3B,LOC643648 dist=154051;dist=310863 NA NA ncRNA_exonic ENSG00000236816 NA NA NA NA NA 9p11.2 NA NA NA NA rs62537404 0.54 0.54 0.426 0.532947 0.7575 0.3294 0.7896 0.2716 0.683 0.74 0.31 0.79 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 -1.136748 NA NA NA NA NA NA NA 3.2425 1336 14 51228682 51228682 G A intronic NIN NA NA NA intronic ENSG00000100503 NA NA NA NA NA 14q22.1 NA NA NA NA rs6572694 0.77 0.77 0.771 0.762181 0.7575 0.6696 0.8501 0.8767 0.6452 0.74 0.67 0.86 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 0.246368 NA NA NA NA NA 0.754 NA 3.2425 1336 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 1336 3 119905641 119905641 G A intronic GPR156 NA NA NA intronic ENSG00000175697 NA NA NA Score=532;Name=lod=194 NA 3q13.33 Score=900;Name=V$RORA1_01 NA NA NA rs2319542 0.92 0.92 0.914 0.902157 0.9284 0.9306 0.9265 0.8812 0.8569 0.92 0.94 0.91 0.88 0.9129 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 2.471925 2.471925 NA 0.916512 0.876759 NA 0.92 NA 3.242188 1336 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 1336 3 15753641 15753641 A G intronic ANKRD28 NA NA NA intronic ENSG00000206560 NA NA NA NA NA 3p25.1 Score=906;Name=V$AREB6_01 NA NA NA rs2455834 0.43 0.43 0.381 0.389577 0.5964 0.3323 0.6037 0.0953 0.4816 0.59 0.37 0.62 0.12 0.5753 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133676 NA NA 0.586359 0.173278 NA 0.399 NA 3.241941 1336 7 73019975 73019975 A G intronic MLXIPL NA NA NA intronic ENSG00000009950 NA NA NA NA NA 7q11.23 NA NA NA NA rs61010704 0.23 0.23 0.218 0.204473 0.2535 0.0853 0.1369 0.3268 0.1595 0.27 0.1 0.18 0.37 0.2325 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044861 NA NA 0.272093 0.330912 NA 0.304 NA 3.241907 1336 1 182369078 182369078 G A exonic TEDDM1 NA synonymous SNV TEDDM1:NM_172000:exon1:c.C543T:p.P181P exonic ENSG00000203730 NA synonymous SNV ENSG00000203730:ENST00000367565:exon1:c.C543T:p.P181P NA NA 1q25.3 NA NA NA NA rs6698722 0.84 0.84 0.866 0.853634 0.8171 0.8373 0.8156 0.9569 0.7955 0.8 0.82 0.81 0.95 0.8151 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 -0.847687 NA NA 0.792907 0.926464 NA 0.797 NA 3.2415596 1336 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 1336 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 1336 8 139809111 139809111 G T intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs11992887 0.23 0.23 0.232 0.25619 0.2495 0.0863 0.2421 0.3389 0.3364 0.25 0.11 0.23 0.36 0.2625 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.59954 NA NA 0.247442 0.31911 ID=COSN168442;OCCURENCE=1(large_intestine) 0.246 NA 3.240558 1336 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 1336 15 56132616 56132616 C T intronic NEDD4 NA NA NA intronic ENSG00000069869 NA NA NA NA NA 15q21.3 NA NA NA NA rs11858692 0.21 0.21 0.183 0.204273 0.2744 0.256 0.1729 0.1233 0.2106 0.27 0.21 0.19 0.13 0.2281 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.338878 NA NA 0.257343 0.135721 NA 0.138 NA 3.240157 1336 17 80574532 80574532 A G intronic WDR45B NA NA NA intronic ENSG00000141580 NA NA NA NA NA 17q25.3 NA NA NA NA rs12950772 0.2 0.2 0.184 0.194289 0.2704 0.1558 0.3069 0.0862 0.2219 0.27 0.14 0.28 0.1 0.2305 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.75796 NA NA 0.258953 0.107808 NA 0.261 NA 3.240147 1336 11 18317699 18317699 C T intronic HPS5 NA NA NA intronic ENSG00000110756 NA NA NA Score=325;Name=lod=28 NA 11p15.1 NA NA NA NA rs2305565 0.66 0.66 0.656 0.65016 0.5845 0.8482 0.5879 0.5855 0.6452 0.6 0.85 0.57 0.61 0.5914 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 1.649217 1.649217 NA 0.583974 0.569122 NA 0.471 NA 3.240126 1336 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 1336 6 159190800 159190800 C G intronic EZR NA NA NA intronic ENSG00000092820 NA NA NA NA NA 6q25.3 NA NA NA NA rs3127177 0.18 0.18 0.17 0.182508 0.2694 0.0129 0.1657 0.2542 0.183 0.28 0.01 0.18 0.24 0.228 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.124033 3.124033 NA 0.262674 0.264412 NA 0.196 NA 3.239926 1336 4 88732453 88732453 C T intronic IBSP NA NA NA intronic ENSG00000029559 NA NA NA NA NA 4q22.1 NA NA NA NA rs4693183 0.74 0.74 0.788 0.742212 0.7604 0.5942 0.7305 0.913 0.6534 0.74 0.59 0.76 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 0.331191 NA NA NA NA NA 0.855 NA 3.2396 1336 11 108093208 108093208 A T intronic NPAT NA NA NA intronic ENSG00000149308 NA NA NA NA NA 11q22.3 NA Name=E2F6_(H-50),GTF2B,POU2F2,E2F6,TAF7_(SQ-8),HA-E2F1,Pol2(phosphoS2),Pol2,FOXA1_(C-20),ETS1,HEY1,Pol2-4H8,TAF1,E2F4,Sin3Ak-20,SP1,c-Myc,Oct-2,Max,TBP,Pol2(b) NA NA rs228589 0.53 0.53 0.478 0.539137 0.6223 0.4454 0.6484 0.3896 0.6748 0.61 0.46 0.64 0.39 0.572 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.834975 1.834975 NA 0.56653 0.445925 NA 0.435 NA 3.23917 1336 8 17166866 17166866 G A intronic MTMR7 NA NA NA intronic ENSG00000003987 NA NA NA NA NA 8p22 NA NA NA NA rs62498845 0.15 0.15 0.14 0.124601 0.2495 0.003 0.2118 0.1006 0.092 0.26 NA 0.24 0.1 0.2176 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.459119 NA NA 0.293898 0.124659 NA 0.145 NA 3.239002 1336 19 36964376 36964376 C T intronic ZNF566 NA NA NA intronic ENSG00000186017 NA NA NA NA NA 19q13.12 NA NA NA NA rs2967540 0.22 0.22 0.223 0.252196 0.2714 0.1627 0.183 0.2481 0.3793 0.25 0.13 0.21 0.27 0.2447 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.563353 2.563353 NA 0.245349 0.273264 NA 0.181 NA 3.238551 1336 11 47203904 47203904 G A intronic PACSIN3 NA NA NA intronic ENSG00000165912 NA NA NA NA NA 11p11.2 NA NA NA NA rs10838664 0.35 0.35 0.321 0.309704 0.2366 0.6667 0.3112 0.1331 0.2546 0.25 0.65 0.31 0.18 0.291 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.024237 NA NA 0.234 0.16129 NA 0.188 NA 3.2384 1336 19 3382274 3382274 C T intronic NFIC NA NA NA intronic ENSG00000141905 NA NA NA NA NA 19p13.3 NA NA NA NA rs2074944 0.36 0.36 0.34 0.372204 0.2217 0.5357 0.3934 0.3623 0.3569 0.23 0.53 0.34 0.39 0.3134 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.875652 NA NA 0.226615 0.316255 NA 0.21 NA 3.238285 1336 1 85009894 85009894 A G intergenic GNG5,CTBS dist=37632;dist=8910 NA NA ncRNA_exonic ENSG00000122432 NA NA NA NA NA 1p22.3 NA NA NA NA rs12143652 0.21 0.21 0.201 0.235823 0.2147 0.1984 0.1614 0.2307 0.3558 0.22 0.19 0.19 0.25 0.323 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280175 NA 0 0.224122 0.247163 ID=COSM1126937;OCCURENCE=1(prostate) 0.181 NA 3.238178 1336 16 8841960 8841960 T C intronic ABAT NA NA NA intronic ENSG00000183044 NA NA NA Score=477;Name=lod=116 NA 16p13.2 NA NA NA NA rs1641010 0.51 0.51 0.476 0.469449 0.5944 0.5972 0.5937 0.1657 0.5317 0.61 0.61 0.59 0.17 0.5704 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.130197 NA NA 0.597093 0.238279 NA 0.536 NA 3.238107 1336 4 76881392 76881392 C T intronic SDAD1 NA NA NA intronic ENSG00000198301 NA NA NA NA NA 4q21.1 NA NA NA NA rs67906710 0.28 0.28 0.289 0.272364 0.2376 0.506 0.268 0.1029 0.2996 0.26 0.48 0.23 0.11 0.266 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.331126 NA NA 0.258548 0.124545 NA 0.188 NA 3.237852 1336 15 89417629 89417629 G A intronic ACAN NA NA NA intronic ENSG00000157766 NA NA NA NA NA 15q26.1 NA NA NA NA rs2280465 0.17 0.17 0.189 0.175719 0.2266 0.1062 0.2032 0.1641 0.1912 0.21 0.1 0.23 0.17 0.3 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.177434 NA NA 0.235694 0.175287 NA 0.268 NA 3.237706 1336 3 131624097 131624097 G A intronic CPNE4 NA NA NA intronic ENSG00000196353 NA NA NA NA NA 3q22.1 NA NA NA NA rs3749262 0.17 0.17 0.138 0.158746 0.2634 0.1171 0.2622 0.0439 0.1759 0.25 0.11 0.25 0.04 0.2289 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.210009 NA NA 0.27 0.07172 NA 0.123 NA 3.2377 1336 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 1336 1 176664842 176664842 C A intronic PAPPA2 NA NA NA intronic ENSG00000116183 NA NA NA NA NA 1q25.2 NA NA NA NA rs12138725 0.23 0.23 0.234 0.248003 0.2793 0.0804 0.1729 0.3132 0.3538 0.27 0.08 0.2 0.36 0.2415 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.598419 NA NA 0.241943 0.279243 NA 0.435 NA 3.237257 1336 X 31224684 31224684 A G intronic DMD NA NA NA intronic ENSG00000198947 NA NA NA NA NA Xp21.2 NA NA NA NA rs2293668 0.82 0.82 0.81161 NA NA NA NA NA NA 0.89 0.79 0.92 0.69 0.8836 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 1.628307 1.628307 NA 0.879292 0.733681 NA 0.594 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000080853.1|RCV000124715.1;CLNDSDB=.|.;CLNDSDBID=.|. 3.237108 1336 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 1336 16 775947 775947 G C intronic CCDC78 NA NA NA intronic ENSG00000162004 NA NA NA NA NA 16p13.3 NA NA NA NA rs12446058 0.14 0.14 0.116 0.159744 0.2356 0.0109 0.121 0.1142 0.3241 0.23 0.02 0.13 0.14 0.2853 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160614 NA NA 0.242222 0.126153 NA 0.188 NA 3.236878 1336 12 29736523 29736523 G T intronic TMTC1 NA NA NA intronic ENSG00000133687 NA NA NA NA NA 12p11.22 NA NA NA NA rs2288230 0.32 0.32 0.286 0.315096 0.2376 0.4623 0.3012 0.3147 0.2536 0.23 0.49 0.28 0.29 0.2881 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.419135 NA NA 0.238488 0.308897 NA 0.246 NA 3.235812 1336 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 1337 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 1337 13 31725374 31725374 T C intronic HSPH1 NA NA NA intronic ENSG00000120694 NA NA NA NA NA 13q12.3 NA NA NA NA rs3736861 0.34 0.34 0.311 0.348842 0.2406 0.4752 0.3818 0.2761 0.4049 0.24 0.53 0.36 0.26 0.2931 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.801957 NA NA 0.231542 0.261031 NA 0.268 NA 3.234758 1337 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 1337 3 194063300 194063300 T C exonic CPN2 NA synonymous SNV CPN2:NM_001080513:exon2:c.A132G:p.P44P exonic ENSG00000178772 NA synonymous SNV ENSG00000178772:ENST00000323830:exon2:c.A132G:p.P44P,ENSG00000178772:ENST00000429275:exon2:c.A132G:p.P44P NA NA 3q29 NA NA NA NA rs62288099 0.8 0.8 0.82 0.776957 0.8201 0.7857 0.6931 0.8336 0.7065 0.84 0.78 0.72 0.84 0.7973 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 -1.369814 NA NA 0.815116 0.821834 NA 0.855 NA 3.2341506 1337 16 72832135 72832135 T A exonic ZFHX3 NA synonymous SNV ZFHX3:NM_001164766:exon8:c.A1704T:p.A568A,ZFHX3:NM_006885:exon9:c.A4446T:p.A1482A exonic ENSG00000140836 NA synonymous SNV ENSG00000140836:ENST00000397992:exon8:c.A1704T:p.A568A,ENSG00000140836:ENST00000268489:exon9:c.A4446T:p.A1482A NA NA 16q22.2 NA NA NA NA rs740178 0.88 0.88 0.894 0.886182 0.7952 0.9603 0.8343 0.9917 0.7975 0.8 0.95 0.8 0.99 0.8362 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 -0.066968 NA NA 0.801163 0.959736 NA 0.899 NA 3.2341036 1337 6 32410941 32410941 T C intronic HLA-DRA NA NA NA intronic ENSG00000204287 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8,Pol2 NA NA rs9268659 0.61 0.61 0.582 0.627196 0.5865 0.6756 0.6744 0.5961 0.6278 0.56 0.67 0.64 0.58 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 0.127628 NA NA 0.569583 0.571571 NA 0.652 NA 3.233917 1337 8 142505057 142505057 G T intronic MROH5 NA NA NA intronic ENSG00000226807 NA NA NA NA NA 8q24.3 NA NA NA NA rs2246586 0.21 0.21 NA 0.240615 0.4245 0.1935 0.2752 0.0734 0.3016 0.33 0.16 0.28 0.05 0.3379 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.251243 NA NA 0.003813 0.000726 NA NA NA 3.233787 1337 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 1337 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 1337 14 88693683 88693683 A G intronic KCNK10 NA NA NA intronic ENSG00000100433 NA NA NA NA NA 14q31.3 NA NA NA NA rs3825677 0.34 0.34 0.356 0.348442 0.2286 0.4474 0.2046 0.4523 0.3313 0.23 0.49 0.2 0.46 0.2854 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546709 NA NA 0.253372 0.408988 ID=COSN164758;OCCURENCE=1(breast) 0.442 NA 3.232628 1337 9 6594978 6594978 T C intronic GLDC NA NA NA intronic ENSG00000178445 NA NA NA NA NA 9p24.1 NA NA NA NA rs11789777 0.19 0.19 0.155 0.199481 0.2594 0.1647 0.3012 0.0658 0.2822 0.26 0.15 0.28 0.08 0.247 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376945 NA NA 0.261047 0.095552 NA 0.261 NA 3.232553 1337 17 59485393 59485393 C T intronic TBX2 NA NA NA ncRNA_intronic ENSG00000267280 NA NA NA NA NA 17q23.2 NA NA Name=14 NA rs2240736 0.6 0.6 0.624 0.56849 0.7286 0.4177 0.4784 0.6725 0.4826 0.73 0.44 0.51 0.63 0.6489 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 0.130077 NA NA 0.723488 0.666818 NA 0.688 NA 3.2323453 1337 2 46211658 46211658 G A intronic PRKCE NA NA NA intronic ENSG00000171132 NA NA NA NA NA 2p21 NA NA NA NA rs4953294 0.17 0.17 0.161 0.180312 0.2674 0.0873 0.183 0.0673 0.3374 0.27 0.1 0.21 0.07 0.2378 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.259142 NA NA 0.262586 0.100504 NA 0.138 NA 3.232214 1337 14 65245863 65245863 C G intronic SPTB NA NA NA intronic ENSG00000070182 NA NA NA NA NA 14q23.3 NA NA NA NA rs1741489 0.34 0.34 0.364 0.410543 0.2445 0.3532 0.1671 0.6959 0.4274 0.23 0.34 0.18 0.63 0.2846 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.02212 2.02212 NA 0.238837 0.603722 NA 0.341 NA 3.232063 1337 15 40856989 40856989 C T splicing C15orf57 NA NA NA splicing ENSG00000128891 NA NA NA NA NA 15q15.1 NA Name=ELK4 NA NA rs3803354 0.88 0.88 0.864 0.85603 0.9304 0.872 0.9121 0.7458 0.8722 0.93 0.9 0.91 0.75 0.9077 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 -0.217395 NA NA 0.930088 0.780854 NA 0.891 NA 3.231812 1337 15 89862341 89862341 A G intronic POLG NA NA NA intronic ENSG00000140521 NA NA NA NA NA 15q26.1 NA NA NA NA rs2302084 0.33 0.33 NA 0.298123 0.3936 0.3125 0.3573 0.149 0.3446 0.42 0.32 0.36 0.18 0.3747 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.367797 NA NA NA NA NA 0.261 NA 3.2317 1337 3 123014877 123014877 C T intronic ADCY5 NA NA NA intronic ENSG00000173175 NA NA NA NA NA 3q21.1 NA NA NA NA rs9881951 0.72 0.72 0.721 0.720647 0.7684 0.876 0.7637 0.5053 0.772 0.75 0.9 0.74 0.45 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 -0.99506 NA NA NA NA NA 0.746 NA 3.2316 1337 17 46022889 46022889 C T intronic PNPO NA NA NA ncRNA_intronic ENSG00000263798 NA NA NA NA NA 17q21.32 NA NA NA NA rs2002136 0.4 0.4 0.375 0.386581 0.3728 0.5496 0.4107 0.3048 0.3262 0.36 0.53 0.39 0.31 0.3736 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.65189 NA NA 0.355581 0.335225 NA 0.37 NA 3.2313523 1337 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 1337 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 1337 7 2952886 2952886 C T intronic CARD11 NA NA NA intronic ENSG00000198286 NA NA NA NA NA 7p22.2 NA NA NA NA rs1626708 0.15 0.15 0.124 0.138778 0.2744 0.0764 0.2406 0.0363 0.1299 0.26 0.06 0.24 0.04 0.2391 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644688 NA NA 0.256112 0.083761 NA 0.181 NA 3.230388 1337 13 40261945 40261945 A G intronic COG6 NA NA NA intronic ENSG00000133103 NA NA NA NA NA 13q14.11 NA NA NA NA rs4129745 0.28 0.28 0.253 0.295527 0.2634 0.2917 0.1787 0.3888 0.2894 0.26 0.27 0.19 0.37 0.2599 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.703206 NA NA 0.24686 0.369723 NA 0.275 NA 3.22984 1337 2 219480804 219480804 G C intronic PLCD4 NA NA NA intronic ENSG00000115556 NA NA NA NA NA 2q35 NA Name=HNF4A_(H-171) NA NA rs485765 0.6 0.6 0.522 0.59385 0.5924 0.7827 0.6124 0.3805 0.6759 0.6 0.76 0.62 0.39 0.5955 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 -0.154441 NA NA 0.582475 0.447474 NA 0.493 NA 3.229625 1337 10 94695555 94695555 G A intronic EXOC6 NA NA NA intronic ENSG00000138190 NA NA NA NA NA 10q23.33 NA NA NA NA rs1326330 0.23 0.23 0.217 0.249002 0.2505 0.0972 0.2565 0.3646 0.2423 0.25 0.08 0.25 0.36 0.2557 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222788 NA NA 0.264767 0.355424 NA 0.319 NA 3.229033 1337 3 418089 418089 C T intronic CHL1 NA NA NA ncRNA_intronic ENSG00000234661 NA NA NA NA NA 3p26.3 NA NA NA NA rs3773380 0.41 0.41 0.437 0.427316 0.3598 0.3452 0.3026 0.5401 0.5174 0.36 0.41 0.3 0.54 0.3797 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.088558 NA NA 0.364892 0.513699 NA 0.543 NA 3.2289413 1337 5 115341611 115341611 G T exonic AQPEP NA synonymous SNV AQPEP:NM_173800:exon13:c.G2040T:p.A680A exonic ENSG00000172901 NA synonymous SNV ENSG00000172901:ENST00000514509:exon8:c.G591T:p.A197A,ENSG00000172901:ENST00000357872:exon13:c.G2040T:p.A680A,ENSG00000172901:ENST00000395528:exon13:c.G591T:p.A197A,ENSG00000172901:ENST00000504467:exon13:c.G2040T:p.A680A NA NA 5q23.1 NA NA NA NA rs10078748 0.8 0.8 0.762 0.776757 0.8072 0.7768 0.8012 0.8056 0.6892 0.81 0.76 0.81 0.81 0.804 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 0.380014 NA NA 0.826588 0.797819 NA 0.775 NA 3.2288786 1337 18 19153494 19153494 C T exonic ESCO1 NA synonymous SNV ESCO1:NM_052911:exon4:c.G1311A:p.T437T exonic ENSG00000141446 NA synonymous SNV ENSG00000141446:ENST00000269214:exon4:c.G1311A:p.T437T,ENSG00000141446:ENST00000383276:exon4:c.G1311A:p.T437T NA NA 18q11.2 NA NA NA NA rs973730 0.87 0.87 0.868 0.867812 0.7952 0.9762 0.8977 0.8548 0.8272 0.8 0.98 0.88 0.85 0.8321 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 -0.793667 NA NA 0.810581 0.855651 NA 0.906 NA 3.2287856 1337 21 45743594 45743594 C T intronic PFKL NA NA NA intronic ENSG00000141959 NA NA NA NA NA 21q22.3 NA NA NA NA rs12482028 0.75 0.75 0.752 0.776957 0.7714 0.6815 0.7478 0.7874 0.8875 0.77 0.72 0.74 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 0.057937 NA NA NA NA NA 0.623 NA 3.2286 1337 16 11367477 11367477 G A upstream PRM3 NA NA NA intronic ENSG00000175643 NA NA NA NA NA 16p13.13 NA NA Name=30 NA rs2301127 0.62 0.62 0.561 0.593251 0.5209 0.8294 0.7118 0.4107 0.5869 0.53 0.86 0.69 0.41 0.5723 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 -0.673602 NA NA 0.511586 0.403513 NA 0.5 NA 3.2285473 1337 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 1337 2 32667562 32667562 A G intronic BIRC6 NA NA NA intronic ENSG00000115760 NA NA NA NA NA 2p22.3 NA NA NA NA rs2276592 0.29 0.29 0.264 0.308506 0.2296 0.5635 0.2421 0.0961 0.4611 0.24 0.53 0.22 0.13 0.2975 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.367365 2.367365 NA 0.244767 0.107127 NA 0.174 NA 3.228133 1337 16 1838640 1838640 T C exonic NUBP2 NA synonymous SNV NUBP2:NM_012225:exon7:c.T741C:p.P247P exonic ENSG00000095906 NA synonymous SNV ENSG00000095906:ENST00000543305:exon6:c.T318C:p.P106P,ENSG00000095906:ENST00000568706:exon6:c.T318C:p.P106P,ENSG00000095906:ENST00000262302:exon7:c.T741C:p.P247P,ENSG00000095906:ENST00000565987:exon8:c.T561C:p.P187P NA NA 16p13.3 NA NA NA NA rs344359 0.82 0.82 0.805 0.822883 0.8022 0.7232 0.7896 0.9599 0.7853 0.79 0.72 0.84 0.95 0.8145 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 -0.860854 NA NA 0.821894 0.933257 NA 0.732 NA 3.2280726 1337 21 37664372 37664372 C T intronic DOPEY2 NA NA NA intronic ENSG00000142197 NA NA NA NA NA 21q22.12 NA NA NA NA rs9977791 0.19 0.19 0.21 0.194489 0.2465 0.0407 0.2464 0.2799 0.1472 0.24 0.05 0.23 0.26 0.2465 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440924 NA NA 0.279186 0.258057 ID=COSN166649;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.174 NA 3.227814 1337 20 62200860 62200860 A G exonic HELZ2 NA synonymous SNV HELZ2:NM_001037335:exon5:c.T729C:p.A243A exonic ENSG00000130589 NA synonymous SNV ENSG00000130589:ENST00000467148:exon4:c.T729C:p.A243A NA NA 20q13.33 NA NA NA NA rs1757752 0.76 0.76 0.729 0.749201 0.8091 0.9673 0.7723 0.4766 0.8149 0.8 0.95 0.78 0.47 0.8046 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 -0.686355 NA NA 0.825576 0.545951 ID=COSM444230;OCCURENCE=2(breast) 0.746 NA 3.2273906 1337 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 1337 16 21222596 21222596 C A intronic ZP2 NA NA NA intronic ENSG00000103310 NA NA NA NA NA 16p12.2 NA NA NA NA rs2075519 0.28 0.28 0.279 0.296725 0.2545 0.373 0.2781 0.1959 0.411 0.24 0.38 0.31 0.2 0.279 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316872 NA NA 0.239535 0.190996 ID=COSN165135;OCCURENCE=1(NS) 0.225 NA 3.226965 1337 X 99849051 99849051 T C intronic TNMD NA NA NA intronic ENSG00000000005 NA NA NA NA NA Xq22.1 NA NA NA NA rs2073163 0.51 0.51 0.49921 NA NA NA NA NA NA 0.4 0.68 0.47 0.5 0.408 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415423 NA NA 0.365056 0.426858 NA 0.37 NA 3.226944 1337 14 21542037 21542037 C T intronic ARHGEF40 NA NA NA intronic ENSG00000165801 NA NA NA NA NA 14q11.2 NA NA NA NA rs4982405 0.72 0.72 0.687 0.737021 0.7734 0.5238 0.8617 0.7912 0.7577 0.77 0.52 0.84 0.77 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 1.492829 1.492829 NA NA NA NA 0.696 NA 3.2266 1337 11 60152531 60152531 A C intronic MS4A7 NA NA NA intronic ENSG00000166926,ENSG00000166927,ENSG00000166928 NA NA NA NA NA 11q12.2 NA NA NA NA rs2233244 0.21 0.21 0.169 0.186701 0.2704 0.2401 0.1628 0.1104 0.1656 0.27 0.22 0.18 0.1 0.2314 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.230133 NA NA 0.271628 0.165002 NA 0.21 NA 3.226572 1337 2 197184321 197184321 C T exonic HECW2 NA synonymous SNV HECW2:NM_020760:exon9:c.G1293A:p.P431P exonic ENSG00000138411 NA synonymous SNV ENSG00000138411:ENST00000409111:exon7:c.G225A:p.P75P,ENSG00000138411:ENST00000260983:exon9:c.G1293A:p.P431P NA NA 2q32.3 NA NA NA NA rs1531111 0.77 0.77 0.748 0.727436 0.831 0.9653 0.8199 0.385 0.773 0.83 0.97 0.8 0.41 0.797 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 -1.684126 NA NA 0.812326 0.46187 NA 0.638 NA 3.2263406 1337 17 18144720 18144720 C T intronic LLGL1 NA NA NA intronic ENSG00000131899 NA NA NA NA NA 17p11.2 NA Name=CTCF NA NA rs2245737 0.57 0.57 0.587 0.544529 0.6054 0.4067 0.5893 0.7398 0.3282 0.61 0.38 0.58 0.73 0.5541 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 -0.245443 NA NA 0.614213 0.72197 NA 0.449 NA 3.226287 1337 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 1337 13 103307322 103307322 A G intronic TPP2 NA NA NA intronic ENSG00000134900 NA NA NA NA NA 13q33.1 NA NA Name=12 NA rs677248 0.66 0.66 0.711 0.64357 0.6103 0.5823 0.4885 0.8933 0.5133 0.61 0.62 0.52 0.89 0.575 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 0.168155 NA NA 0.588693 0.84 NA 0.696 NA 3.226007 1337 11 1284409 1284409 C T intergenic MUC5B,TOLLIP dist=1003;dist=11189 NA NA intergenic ENSG00000117983,ENSG00000078902 dist=1003;dist=11192 NA NA NA NA 11p15.5 NA NA NA NA rs55831269 0.04 0.04 0.044 0.0473243 0.0388 0.002 0.0403 0.0711 0.0757 0.04 0.0017 0.05 0.08 0.0351 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 0.290326 NA NA 0.03392 0.083524 NA 0.036 NA 3.2255134 1337 16 81973474 81973474 C A intronic PLCG2 NA NA NA intronic ENSG00000197943 NA NA NA NA NA 16q23.3 NA Name=CTCF,TCF4 Name=17 NA rs4405546 0.92 0.92 0.917 0.922125 0.9155 1 0.9265 0.8623 0.9264 0.92 1 0.91 0.84 0.9296 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.136695 NA NA 0.929644 0.884836 NA 0.87 NA 3.225256 1338 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 1338 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 1338 11 3746465 3746465 C G intronic NUP98 NA NA NA intronic ENSG00000110713 NA NA NA NA NA 11p15.4 NA NA NA NA rs276901 0.31 0.31 0.313 0.339856 0.2505 0.3125 0.1571 0.5076 0.363 0.24 0.31 0.19 0.52 0.2753 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.302045 NA NA 0.249942 0.454091 NA 0.442 NA 3.224258 1338 10 7683873 7683873 A T intronic ITIH5 NA NA NA intronic ENSG00000123243 NA NA NA NA NA 10p14 NA NA NA NA rs41382649 0.17 0.17 0.158 0.154952 0.2614 0.0913 0.2233 0.0461 0.2096 0.25 0.1 0.23 0.06 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 0.293455 NA NA 0.283605 0.08897 ID=COSN163546;OCCURENCE=1(breast) 0.21 NA 3.224195 1338 22 50588153 50588153 G A intronic MOV10L1 NA NA NA intronic ENSG00000073146 NA NA NA NA NA 22q13.33 NA NA NA NA rs2272840 0.25 0.25 0.208 0.25 0.2416 0.247 0.389 0.1248 0.3323 0.23 0.31 0.35 0.11 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 -0.756593 NA NA 0.242674 0.156676 ID=COSM149323;OCCURENCE=1(stomach) 0.181 NA 3.224126 1338 19 54590481 54590481 A G intergenic TARM1,OSCAR dist=5847;dist=7452 NA NA intergenic ENSG00000248385,ENSG00000170909 dist=5847;dist=7452 NA NA NA NA 19q13.42 NA NA NA NA rs73609070 0.08 0.08 0.068 0.0834665 0.1093 0.0536 0.1052 0.0303 0.1442 0.11 0.05 0.1 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 -0.99931 NA NA NA NA NA 0.051 NA 3.2240334 1338 16 2903850 2903850 G C intronic PRSS22 NA NA NA intronic ENSG00000005001 NA NA NA NA NA 16p13.3 NA NA NA NA rs112285893 0.12 0.12 0.119 0.0944489 0.2913 0.001 0.1671 0.0151 0.044 0.28 0.0017 0.15 0.01 0.2022 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.358588 NA NA 0.28274 0.056642 NA 0.08 NA 3.22376 1338 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 1338 20 30671875 30671875 C T intronic HCK NA NA NA intronic ENSG00000101336 NA NA NA NA NA 20q11.21 NA NA NA NA rs242607 0.21 0.21 0.211 0.243211 0.2724 0.0218 0.1873 0.3654 0.316 0.27 0.02 0.23 0.34 0.2443 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.711124 NA NA 0.260349 0.344076 NA 0.304 NA 3.222951 1338 17 42158310 42158310 T G intronic HDAC5 NA NA NA intronic ENSG00000108840 NA NA NA NA NA 17q21.31 NA NA NA NA rs377963 0.67 0.67 0.595 0.66274 0.7773 0.9286 0.8285 0.1074 0.9039 0.78 0.92 0.8 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 -0.026185 NA NA NA NA NA 0.543 NA 3.2227 1338 3 52886605 52886605 T C intronic TMEM110,TMEM110-MUSTN1 NA NA NA intronic ENSG00000213533,ENSG00000248592 NA NA NA NA NA 3p21.1 NA NA NA NA rs2276825 0.3 0.3 0.282 0.2502 0.2753 0.3165 0.3847 0.2035 0.1237 0.28 0.37 0.37 0.17 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 -0.608273 NA NA 0.244651 0.218793 NA 0.167 NA 3.222549 1338 12 49310724 49310724 G A intronic CCDC65 NA NA NA intronic ENSG00000134287,ENSG00000139537 NA NA NA NA NA 12q13.12 NA NA NA NA rs10875891 0.31 0.31 NA 0.307907 0.4095 0.4444 0.4928 0.1014 0.2106 0.34 0.41 0.39 0.08 0.3686 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.438669 3.438669 NA NA NA NA NA NA 3.2219 1338 12 49310725 49310725 A G intronic CCDC65 NA NA NA intronic ENSG00000134287,ENSG00000139537 NA NA NA NA NA 12q13.12 NA NA NA NA rs10875892 0.31 0.31 0.007 0.308307 0.4095 0.4454 0.4942 0.1014 0.2106 0.34 0.41 0.39 0.08 0.3687 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.359977 3.359977 NA NA NA NA NA NA 3.2218 1338 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 1338 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 1338 22 43570463 43570463 A G intronic TTLL12 NA NA NA intronic ENSG00000100304 NA NA NA NA NA 22q13.2 NA NA NA NA rs2269525 0.32 0.32 0.307 0.348243 0.2584 0.2907 0.2089 0.5174 0.3701 0.27 0.3 0.22 0.5 0.2795 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.60831 NA NA 0.240814 0.47685 NA 0.297 NA 3.221286 1338 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 1338 1 11854755 11854755 G A intronic MTHFR NA NA NA intronic ENSG00000177000 NA NA NA NA NA 1p36.22 NA NA Name=6 NA rs1994798 0.64 0.64 0.603 0.579273 0.5964 0.754 0.7507 0.4228 0.4714 0.6 0.8 0.72 0.46 0.5952 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 -0.712221 NA NA 0.587558 0.434635 NA 0.609 NA 3.220842 1338 5 150925144 150925144 A G exonic FAT2 NA synonymous SNV FAT2:NM_001447:exon9:c.T5544C:p.P1848P exonic ENSG00000086570 NA synonymous SNV ENSG00000086570:ENST00000261800:exon9:c.T5544C:p.P1848P NA NA 5q33.1 NA NA NA NA rs3797875 0.84 0.84 0.832 0.815695 0.8201 0.7302 0.8415 0.9917 0.6431 0.82 0.72 0.86 0.99 0.8093 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 -0.390185 NA NA 0.816512 0.964594 NA 0.913 NA 3.2207546 1338 1 16373124 16373124 A G exonic CLCNKB NA synonymous SNV CLCNKB:NM_000085:exon4:c.A324G:p.S108S exonic ENSG00000184908 NA synonymous SNV ENSG00000184908:ENST00000375679:exon4:c.A324G:p.S108S NA NA 1p36.13 NA NA NA NA rs5257 0.78 0.78 0.749 0.740415 0.832 0.9881 0.8487 0.3147 0.8896 0.84 0.99 0.83 0.39 0.8022 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 -0.674009 NA NA 0.811744 0.399682 NA 0.645 NA 3.2207226 1338 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 1338 18 7011959 7011959 T A intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs496865 0.3 0.3 0.302 0.320487 0.2266 0.1181 0.2882 0.6415 0.2147 0.24 0.09 0.31 0.61 0.3006 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514053 NA NA 0.252211 0.545455 NA 0.391 NA 3.220589 1338 6 576902 576902 T C intronic EXOC2 NA NA NA intronic ENSG00000112685 NA NA NA NA NA 6p25.3 NA NA NA NA rs708038 0.22 0.22 0.23 0.221046 0.2614 0.1915 0.1628 0.2806 0.1708 0.27 0.2 0.18 0.21 0.2565 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.390021 NA NA 0.261512 0.286428 ID=COSN167673;OCCURENCE=1(large_intestine) 0.203 NA 3.220588 1338 6 31543031 31543031 G A upstream;downstream TNF;LTA NA NA NA upstream;downstream ENSG00000232810;ENSG00000226979 NA NA NA NA NA 6p21.33 NA NA NA NA rs1800629 0.1 0.1 0.099 0.0902556 0.1342 0.0585 0.0692 0.1195 0.0532 0.14 0.06 0.07 0.1 0.1616 0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512386 NA NA 0.150609 0.120531 NA 0.116 NA 3.2202576 1338 1 43300663 43300663 T C intronic ERMAP NA NA NA ncRNA_exonic ENSG00000243153 NA NA NA NA NA 1p34.2 NA NA Name=4 NA rs4660672 0.6 0.6 0.582 0.582468 0.7296 0.3601 0.6729 0.5575 0.6299 0.73 0.4 0.7 0.55 0.667 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 0.754593 NA NA 0.716977 0.566727 NA 0.63 NA 3.2197563 1338 5 34945944 34945944 A T intronic DNAJC21 NA NA NA intronic ENSG00000168724 NA NA NA NA NA 5p13.2 NA NA NA NA rs37442 0.23 0.23 0.225 0.234425 0.2555 0.3244 0.2839 0.0393 0.3487 0.24 0.33 0.29 0.05 0.2569 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.460742 NA NA 0.268148 0.078828 NA 0.275 NA 3.219452 1338 8 124693444 124693444 C T UTR3 ANXA13 NM_004306:c.*36G>A,NM_001003954:c.*36G>A NA NA UTR3 ENSG00000104537 ENST00000262219:c.*36G>A,ENST00000419625:c.*36G>A NA NA NA NA 8q24.13 NA NA Name=104 NA rs3739283 0.66 0.66 0.659 0.690895 0.6918 0.4365 0.7233 0.8517 0.7117 0.69 0.4 0.74 0.87 0.702 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 0.460272 NA NA 0.720698 0.81911 ID=COSN168415;OCCURENCE=1(large_intestine) 0.732 NA 3.2188354 1338 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 1338 3 42234740 42234740 G A intronic TRAK1 NA NA NA intronic ENSG00000182606 NA NA NA NA NA 3p22.1 NA NA NA NA rs2290137 0.27 0.27 0.263 0.221845 0.2793 0.4405 0.1859 0.0825 0.1513 0.28 0.45 0.18 0.12 0.2486 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.898637 NA NA 0.254186 0.105538 NA 0.246 NA 3.217914 1338 14 23600662 23600662 G T intronic SLC7A8 NA NA NA intronic ENSG00000092068 NA NA NA NA NA 14q11.2 NA NA NA NA rs12436035 0.18 0.18 0.142 0.196486 0.2634 0.0605 0.438 0.0386 0.3098 0.28 0.04 0.37 0.05 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 1.56316 1.56316 NA 0.245698 0.071039 NA 0.188 NA 3.217802 1338 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 1338 14 22938561 22938561 A T intergenic OR4E2,DAD1 dist=804323;dist=95246 NA NA ncRNA_intronic ENSG00000251002 NA NA NA NA NA 14q11.2 NA NA NA NA rs11850502 0.21 0.21 0.212 0.229633 0.2455 0.006 0.2089 0.4758 0.1258 0.23 0.01 0.21 0.42 0.2834 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.004254 NA NA 0.25362 0.40373 NA 0.275 NA 3.21748 1338 2 85820027 85820027 A G intronic VAMP5 NA NA NA intronic ENSG00000168899 NA NA NA NA NA 2p11.2 NA NA NA NA rs72843872 0.18 0.18 0.137 0.190895 0.2843 0.0883 0.1988 0.1452 0.2566 0.27 0.06 0.23 0.12 0.2334 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.829439 NA NA 0.265116 0.145483 NA 0.203 NA 3.217184 1338 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 1338 2 103324575 103324575 T C intronic SLC9A2 NA NA NA intronic ENSG00000115616 NA NA NA NA NA 2q12.1 NA NA NA NA rs17833353 0.19 0.19 0.157 0.157947 0.2624 0.0179 0.2954 0.177 0.0716 0.26 0.03 0.35 0.16 0.2381 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025432 NA NA 0.282791 0.210168 ID=COSM148919;OCCURENCE=1(stomach) 0.174 NA 3.216709 1338 14 103599938 103599938 C T intronic TNFAIP2 NA NA NA intronic ENSG00000185215 NA NA NA NA NA 14q32.32 NA NA NA NA rs2234143 0.77 0.77 0.795 0.793131 0.7833 0.6558 0.719 0.9773 0.7485 0.77 0.62 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 -1.761643 NA NA NA NA NA 0.841 NA 3.2167 1338 4 113350415 113350415 C T intronic ALPK1 NA NA NA intronic ENSG00000073331 NA NA NA NA NA 4q25 NA NA NA NA rs11944513 0.22 0.22 0.241 0.197484 0.2714 0.1577 0.1974 0.2027 0.1554 0.3 0.18 0.2 0.18 0.2425 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.635086 NA NA 0.269535 0.222424 NA 0.217 NA 3.216565 1338 19 54848986 54848986 C T intronic LILRA4 NA NA NA intronic ENSG00000239961 NA NA NA NA NA 19q13.42 NA NA NA NA rs36068997 0.32 0.32 0.327 0.329673 0.2505 0.255 0.3862 0.4781 0.2474 0.26 0.23 0.35 0.5 0.2894 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.661649 NA NA 0.243545 0.451408 NA 0.319 NA 3.216555 1338 12 109617865 109617865 T C exonic ACACB NA synonymous SNV ACACB:NM_001093:exon10:c.T1791C:p.D597D exonic ENSG00000076555 NA synonymous SNV ENSG00000076555:ENST00000377848:exon10:c.T1791C:p.D597D,ENSG00000076555:ENST00000377854:exon10:c.T1791C:p.D597D,ENSG00000076555:ENST00000338432:exon11:c.T1791C:p.D597D NA NA 12q24.11 NA NA NA NA rs11065772 0.72 0.72 0.692 0.677316 0.8509 0.7183 0.6124 0.5151 0.7219 0.83 0.72 0.71 0.54 0.7715 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 -0.955184 NA NA 0.828023 0.568316 NA 0.659 NA 3.2162436 1338 15 67501782 67501782 T C intronic AAGAB NA NA NA intronic ENSG00000103591 NA NA NA NA NA 15q23 NA NA NA NA rs28693872 0.3 0.3 0.282 0.323882 0.2604 0.3125 0.3213 0.3321 0.3916 0.26 0.32 0.3 0.35 0.284 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.356124 2.356124 NA 0.23953 0.315223 NA 0.268 NA 3.21607 1338 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 1338 19 10473138 10473138 A G intronic TYK2 NA NA NA intronic ENSG00000105397 NA NA NA NA NA 19p13.2 NA NA NA NA rs280520 0.32 0.32 0.305 0.329872 0.2406 0.4256 0.1859 0.3896 0.3446 0.22 0.43 0.2 0.42 0.3217 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.79725 NA NA 0.221899 0.372955 NA 0.232 NA 3.215801 1338 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 1338 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 1338 9 132640726 132640726 T G intronic USP20 NA NA NA intronic ENSG00000136878 NA NA NA NA NA 9q34.11 NA NA NA NA rs2296788 0.25 0.25 NA 0.212061 0.4076 0.1915 0.2522 0.0522 0.2198 0.41 0.2 0.27 0.05 0.3769 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.326683 1.326683 NA NA NA NA 0.188 NA 3.2155 1338 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 1339 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 1339 17 7750847 7750847 T C intronic KDM6B NA NA NA intronic ENSG00000132510 NA NA NA NA NA 17p13.1 NA NA NA NA rs2270517 0.42 0.42 0.355 0.489417 0.1998 0.8026 0.4063 0.4546 0.5706 0.18 0.82 0.36 0.36 0.3594 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 -3.506993 NA NA 0.22593 0.423706 NA 0.08 NA 3.21487 1339 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 1339 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 1339 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 1339 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 1339 1 1310074 1310074 C G intronic AURKAIP1 NA NA NA intronic ENSG00000175756 NA NA NA NA NA 1p36.33 NA Name=EBF1_(C-8),Egr-1,EBF Name=11 NA rs2765035 0.84 0.84 0.83 0.829073 0.9364 0.9038 0.9222 0.5825 0.909 0.94 0.9 0.92 0.59 0.8943 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 0.418342 NA NA 0.955931 0.670168 NA 0.754 NA 3.213369 1339 10 129160313 129160313 C T intronic DOCK1 NA NA NA intronic ENSG00000150760 NA NA NA NA NA 10q26.2 NA NA NA NA rs2296636 0.22 0.22 0.223 0.228634 0.2555 0.2371 0.134 0.1876 0.3149 0.26 0.26 0.17 0.16 0.2795 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063728 NA NA 0.251887 0.18576 NA 0.13 NA 3.213113 1339 5 135283222 135283222 T A intronic LECT2 NA NA NA intronic ENSG00000145826 NA NA NA NA NA 5q31.1 NA NA NA NA rs977691 0.23 0.23 0.217 0.2498 0.2575 0.2599 0.2277 0.1974 0.318 0.27 0.21 0.23 0.18 0.2745 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.244181 2.244181 NA 0.255589 0.218451 NA 0.181 NA 3.212411 1339 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 1339 1 15390145 15390145 A G intronic KAZN NA NA NA intronic ENSG00000189337 NA NA NA NA NA 1p36.21 NA NA NA NA rs2076565 0.45 0.45 0.472 0.460264 0.2406 0.7133 0.2435 0.6301 0.3497 0.23 0.68 0.28 0.66 0.3136 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.840503 NA NA 0.234186 0.590331 ID=COSN162960;OCCURENCE=1(NS) 0.551 NA 3.211614 1339 1 112042632 112042632 A G exonic ADORA3 NA synonymous SNV ADORA3:NM_000677:exon2:c.T897C:p.A299A exonic ENSG00000121933 NA synonymous SNV ENSG00000121933:ENST00000241356:exon2:c.T897C:p.A299A NA NA 1p13.2 NA NA NA NA rs2229155 0.8 0.8 0.792 0.773562 0.834 0.7579 0.8602 0.7352 0.7178 0.83 0.76 0.86 0.75 0.8065 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 -1.189147 NA NA 0.814651 0.741943 NA 0.891 NA 3.2115156 1339 20 2413320 2413320 T C UTR3 TGM6 NM_001254734:c.*140T>C,NM_198994:c.*31T>C NA NA UTR3 ENSG00000166948 ENST00000381423:c.*140T>C,ENST00000202625:c.*31T>C NA NA NA NA 20p13 NA NA NA NA rs2076652 0.48 0.48 0.48 0.513179 0.3608 0.5327 0.4352 0.6581 0.5092 0.36 0.53 0.41 0.66 0.4175 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 -0.13484 NA NA 0.343605 0.618021 NA 0.514 NA 3.2114284 1339 14 68773353 68773353 G A intronic RAD51B NA NA NA intronic ENSG00000182185 NA NA NA NA NA 14q24.1 NA Name=MEF2A,NFKB,Pol2,PU.1,TBP NA NA rs2180770 0.44 0.44 0.413 0.442292 0.5755 0.4494 0.598 0.1135 0.6319 0.6 0.42 0.56 0.14 0.5775 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.577997 1.577997 NA 0.63561 0.225457 NA 0.514 NA 3.21139 1339 14 20763446 20763446 T C intronic TTC5 NA NA NA intronic ENSG00000136319 NA NA NA NA NA 14q11.2 NA Name=EBF,PU.1,Oct-2,BATF,SP1,RXRA,PAX5-C20,NFKB,BCL3,IRF4_(M-17),BCL11A,MEF2A,POU2F2 Name=15 NA rs1953551 0.94 0.94 0.949 0.93151 0.9245 0.9137 0.9539 0.997 0.8528 0.93 0.91 0.95 0.99 0.9276 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 0.354832 NA NA 0.936512 0.986836 NA 0.928 NA 3.211388 1339 9 130861039 130861039 A G intronic SLC25A25 NA NA NA UTR5 ENSG00000148339 ENST00000433501:c.-2572A>G NA NA NA NA 9q34.11 NA Name=p300,HA-E2F1,USF-1,Pol2,USF2,c-Jun,Sin3Ak-20,SP1,c-Myc,YY1_(C-20),ZNF263,NANOG_(SC-33759),Pol2(b) Name=113 NA rs947623 0.92 0.92 0.908 0.908546 0.996 1 0.951 0.6831 0.999 0.99 1 0.95 0.71 0.9665 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066614 NA NA 0.992791 0.693146 NA 0.899 NA 3.2113757 1339 19 5134096 5134096 C T intronic KDM4B NA NA NA intronic ENSG00000127663 NA NA NA NA NA 19p13.3 NA NA NA NA rs2251561 0.33 0.33 0.313 0.320288 0.2744 0.4742 0.1945 0.2927 0.3354 0.28 0.47 0.22 0.33 0.273 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.058408 NA NA 0.241271 0.272376 NA 0.362 NA 3.211329 1339 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 1339 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 1339 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 1339 12 57870121 57870121 A C intronic ARHGAP9 NA NA NA intronic ENSG00000123329 NA NA NA NA NA 12q13.3 NA Name=Egr-1,Pol2,CTCF,CTCF_(SC-5916),EBF1_(C-8),CTCF_(C-20) Name=15 NA rs486699 0.87 0.87 0.881 0.867412 0.9344 0.8532 0.7896 0.8124 0.9427 0.93 0.86 0.83 0.82 0.9075 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 1.298877 1.298877 NA 0.947442 0.831667 NA 0.87 NA 3.210658 1339 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 1339 3 53806817 53806817 G A intronic CACNA1D NA NA NA intronic ENSG00000157388 NA NA NA NA NA 3p21.1 NA NA NA NA rs35146621 0.2 0.2 0.164 0.154153 0.2823 0.1319 0.2954 0.031 0.1115 0.31 0.15 0.3 0.04 0.2372 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305107 NA NA 0.27 0.074444 NA 0.174 NA 3.2105 1339 19 38702777 38702777 C T intronic DPF1 NA NA NA intronic ENSG00000011332 NA NA NA NA NA 19q13.2 NA NA NA NA rs2288906 0.25 0.25 0.234 0.233626 0.2386 0.3433 0.2089 0.1967 0.183 0.24 0.33 0.21 0.18 0.2849 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.338072 NA NA 0.266667 0.1806 NA 0.138 NA 3.209833 1339 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 1339 17 34943719 34943719 C T intronic GGNBP2 NA NA NA exonic ENSG00000005955 NA unknown UNKNOWN NA NA 17q12 NA NA NA NA rs3744593 0.39 0.39 0.421 0.352835 0.4423 0.3998 0.3386 0.27 0.3344 0.44 0.42 0.35 0.29 0.3974 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.962739 NA NA 0.450698 0.287562 NA 0.319 NA 3.209602 1339 20 62838933 62838933 T C intronic MYT1 NA NA NA intronic ENSG00000196132 NA NA NA NA NA 20q13.33 NA NA NA NA rs6090069 0.18 0.18 0.182 0.159744 0.2744 0.0804 0.1888 0.1089 0.1718 0.28 0.08 0.19 0.13 0.236 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.021638 NA NA 0.280014 0.149115 NA 0.13 NA 3.209586 1339 4 23815924 23815924 T C exonic PPARGC1A NA synonymous SNV PPARGC1A:NM_013261:exon8:c.A1182G:p.T394T exonic ENSG00000109819 NA synonymous SNV ENSG00000109819:ENST00000264867:exon8:c.A1182G:p.T394T NA NA 4p15.2 NA NA NA NA rs2970847 0.86 0.86 0.836 0.879193 0.8231 0.7798 0.9035 0.9887 0.8742 0.82 0.77 0.88 0.99 0.8365 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 -0.453438 NA NA 0.797674 0.960962 NA 0.92 NA 3.2093926 1339 7 99707712 99707712 A G intronic TAF6 NA NA NA intronic ENSG00000106290,ENSG00000221838 NA NA NA NA NA 7q22.1 NA Name=CTCF NA NA rs2272338 0.64 0.64 0.615 0.657947 0.5984 0.8472 0.6527 0.5182 0.7168 0.6 0.86 0.61 0.47 0.6124 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 0.549011 NA NA 0.580581 0.559918 NA 0.572 NA 3.208619 1339 17 64128760 64128760 A T intronic CEP112 NA NA NA intronic ENSG00000154240 NA NA NA NA NA 17q24.1 NA NA NA NA rs229854 0.46 0.46 0.435 0.511981 0.2127 0.8363 0.5014 0.4153 0.6237 0.21 0.84 0.44 0.42 0.3594 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 0.17551 NA NA 0.219302 0.396959 NA 0.377 NA 3.208598 1339 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 1339 19 36113459 36113459 G A intronic HAUS5 NA NA NA intronic ENSG00000249115 NA NA NA NA NA 19q13.12 NA NA NA NA rs2285413 0.39 0.39 0.364 0.360423 0.2485 0.4702 0.4827 0.4561 0.1462 0.26 0.46 0.41 0.47 0.3037 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06733 NA NA 0.23972 0.386593 NA 0.275 NA 3.20808 1339 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 1339 X 35821308 35821308 C T UTR3 MAGEB16 NM_001099921:c.*20C>T NA NA UTR3 ENSG00000189023 ENST00000399989:c.*20C>T,ENST00000399987:c.*20C>T,ENST00000399992:c.*20C>T,ENST00000399988:c.*20C>T,ENST00000399985:c.*20C>T NA NA NA NA Xp21.1 NA NA NA NA rs4829394 0.61 0.61 NA NA NA NA NA NA NA 0.54 0.73 0.58 0.6 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 0.227859 NA NA 0.526603 0.573775 NA 0.5 NA 3.2071304 1339 2 189863389 189863389 C T intronic COL3A1 NA NA NA intronic ENSG00000168542 NA NA NA NA NA 2q32.2 NA NA NA NA rs13306272 0.23 0.23 0.224 0.246805 0.2684 0.2321 0.2565 0.1876 0.3129 0.26 0.24 0.24 0.18 0.2641 0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134887 NA NA 0.260698 0.210168 NA 0.181 NA 3.206802 1339 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 1339 6 152673147 152673147 G A intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA Name=2 NA rs6908392 0.6 0.6 0.578 0.565895 0.6014 0.6161 0.6196 0.5061 0.5204 0.61 0.61 0.62 0.54 0.579 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.382259 NA NA 0.613372 0.509759 NA 0.652 NA 3.206228 1339 1 7833485 7833485 G A intronic VAMP3 NA NA NA intronic ENSG00000049245 NA NA NA NA NA 1p36.23 NA NA NA NA rs11576572 0.15 0.15 0.124 0.152556 0.2932 0.0198 0.2795 0.0386 0.2086 0.28 0.02 0.24 0.05 0.2297 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.743759 1.743759 NA 0.271047 0.076487 NA 0.123 NA 3.206053 1339 12 7065576 7065576 G A intronic PTPN6 NA NA NA intronic ENSG00000111679 NA NA NA NA NA 12p13.31 NA Name=Pol2 Name=8 NA rs2110071 0.83 0.83 0.797 0.816094 0.9394 0.9812 0.9207 0.4077 0.9969 0.94 0.98 0.92 0.43 0.9141 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 -0.964951 NA NA 0.940476 0.514727 NA 0.732 NA 3.206024 1339 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 1339 8 133920411 133920411 T C intronic TG NA NA NA intronic ENSG00000042832 NA NA NA Score=284;Name=lod=19 NA 8q24.22 NA NA NA NA rs2261147 0.42 0.42 0.365 0.397764 0.6093 0.3571 0.5836 0.0703 0.5327 0.62 0.35 0.57 0.09 0.5706 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17287 NA NA 0.614884 0.162052 ID=COSN168436;OCCURENCE=1(large_intestine) 0.399 NA 3.205216 1339 X 1460740 1460740 A G intronic IL3RA NA NA NA intronic ENSG00000185291 NA NA NA NA NA Xp22.33 NA Name=KAP1,Pol2(phosphoS2) NA NA rs6647005 0.77 0.77 0.74881 NA NA NA NA NA NA 0.92 0.76 0.86 0.48 0.8628 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 -0.949162 NA NA 0.932146 0.587381 NA 0.688 NA 3.205054 1340 19 36124176 36124176 A G intronic RBM42 NA NA NA intronic ENSG00000126254 NA NA NA NA NA 19q13.12 NA NA NA NA rs8106576 0.46 0.46 0.435 0.458666 0.2356 0.5258 0.5101 0.7564 0.18 0.25 0.49 0.45 0.75 0.3317 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 0.264397 NA NA 0.227739 0.650386 NA 0.377 NA 3.204961 1340 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 1340 17 47123423 47123423 T C intronic IGF2BP1 NA NA NA intronic ENSG00000159217 NA NA NA NA NA 17q21.32 NA NA NA NA rs4643373 0.2 0.2 0.177 0.196286 0.2575 0.0149 0.2954 0.2655 0.1564 0.26 0.02 0.31 0.22 0.2508 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.084041 NA NA 0.286977 0.255561 NA 0.254 NA 3.204723 1340 2 141260507 141260507 T C intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA NA NA 2q22.1 NA NA NA NA rs4450541 0.2 0.2 0.206 0.208267 0.2664 0.0218 0.1441 0.3253 0.228 0.28 0.02 0.16 0.33 0.2472 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.358381 NA NA 0.28181 0.322515 NA 0.174 NA 3.20459 1340 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 1340 2 79254261 79254261 T C exonic REG3G NA synonymous SNV REG3G:NM_001008387:exon4:c.T297C:p.Y99Y,REG3G:NM_198448:exon4:c.T297C:p.Y99Y exonic ENSG00000143954 NA synonymous SNV ENSG00000143954:ENST00000272324:exon4:c.T297C:p.Y99Y,ENSG00000143954:ENST00000393897:exon4:c.T297C:p.Y99Y NA NA 2p12 NA NA NA NA rs452267 0.85 0.85 0.839 0.859625 0.8042 0.9117 0.902 0.8374 0.863 0.81 0.89 0.88 0.84 0.8454 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 -0.136698 NA NA 0.812791 0.83182 NA 0.862 NA 3.2042756 1340 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 1340 12 52565322 52565322 G T exonic KRT80 NA synonymous SNV KRT80:NM_001081492:exon9:c.C1254A:p.P418P exonic ENSG00000167767 NA synonymous SNV ENSG00000167767:ENST00000313234:exon9:c.C1254A:p.P418P NA NA 12q13.13 NA NA NA NA rs3741737 0.81 0.81 0.783 0.759784 0.831 0.8889 0.8112 0.6573 0.6554 0.82 0.88 0.83 0.67 0.8007 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 -1.154485 NA NA 0.830814 0.70631 NA 0.812 NA 3.2041526 1340 2 170055255 170055255 T C intronic LRP2 NA NA NA intronic ENSG00000081479 NA NA NA NA NA 2q31.1 NA NA NA NA rs16823023 0.32 0.32 0.324 0.266374 0.2614 0.5198 0.1988 0.1944 0.1554 0.28 0.54 0.2 0.21 0.2685 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.563233 NA NA 0.266047 0.196096 NA 0.188 NA 3.204053 1340 15 85401419 85401419 T C exonic ALPK3 NA synonymous SNV ALPK3:NM_020778:exon6:c.T4056C:p.G1352G exonic ENSG00000136383 NA synonymous SNV ENSG00000136383:ENST00000258888:exon6:c.T4056C:p.G1352G NA NA 15q25.3 NA NA NA NA rs167379 0.85 0.85 0.855 0.847843 0.8131 0.9554 0.7637 0.8729 0.7986 0.81 0.96 0.79 0.85 0.8276 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 -0.802158 NA NA 0.822284 0.867847 ID=COSM1478430,COSM1478429;OCCURENCE=1(breast) 0.862 NA 3.2036826 1340 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 1340 21 45821529 45821529 T C intronic TRPM2 NA NA NA intronic ENSG00000142185 NA NA NA NA NA 21q22.3 NA NA NA NA rs9974831 0.3 0.3 0.262 0.259784 0.2674 0.4385 0.2867 0.1808 0.1554 0.26 0.46 0.27 0.2 0.2621 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.479242 NA NA 0.267458 0.192238 NA 0.319 NA 3.203042 1340 16 69873992 69873992 T G intronic WWP2 NA NA NA intronic ENSG00000198373 NA NA NA NA NA 16q22.1 NA Name=p300,HDAC2_(SC-6296),FOXA1_(C-20),TCF4 NA NA rs2291959 0.74 0.74 0.742 0.757188 0.5706 0.8442 0.6412 0.9531 0.6769 0.55 0.87 0.65 0.93 0.6451 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 0.518642 NA NA 0.581279 0.885578 NA 0.768 NA 3.203021 1340 21 41516366 41516366 G A intronic DSCAM NA NA NA intronic ENSG00000171587 NA NA NA NA NA 21q22.2 NA NA NA NA rs2297266 0.45 0.45 0.407 0.429712 0.4026 0.5962 0.3718 0.4281 0.3292 0.4 0.56 0.39 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 -0.047113 NA NA 0.394776 0.420662 NA 0.449 NA 3.202624 1340 1 171765591 171765591 G A intronic METTL13 NA NA NA intronic ENSG00000010165 NA NA NA NA NA 1q24.3 NA NA NA NA rs2232826 0.33 0.33 0.315 0.296725 0.2425 0.5228 0.2795 0.2504 0.1943 0.24 0.52 0.29 0.27 0.2841 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168701 NA NA 0.270814 0.284158 NA 0.355 NA 3.202586 1340 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 1340 1 109363140 109363140 T C intronic AKNAD1 NA NA NA intronic ENSG00000162641 NA NA NA NA NA 1p13.3 NA NA NA NA rs1333129 0.39 0.39 0.37 0.386182 0.2565 0.6974 0.3919 0.2617 0.363 0.26 0.7 0.36 0.26 0.3106 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 0.208381 NA NA 0.230465 0.275533 NA 0.246 NA 3.202435 1340 9 17273878 17273878 A G intronic CNTLN NA NA NA intronic ENSG00000044459 NA NA NA NA NA 9p22.2 NA NA NA NA rs12376938 0.17 0.17 0.19 0.225839 0.2793 0.0893 0.2176 0.18 0.3793 0.26 0.06 0.23 0.13 0.2539 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.816736 NA NA 0.265068 0.167401 NA 0.283 NA 3.201732 1340 20 2796133 2796133 G A intronic C20orf141 NA NA NA intronic ENSG00000198326,ENSG00000241690,ENSG00000258713 NA NA NA NA NA 20p13 NA NA NA NA rs2073127 0.3 0.3 0.35 0.328474 0.2535 0.371 0.3573 0.3011 0.3783 0.25 0.35 0.31 0.33 0.2928 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.573796 NA NA 0.251977 0.305946 NA 0.283 NA 3.201723 1340 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 1340 19 16024538 16024538 A G UTR3 CYP4F11 NM_001128932:c.*4T>C,NM_021187:c.*4T>C NA NA UTR3 ENSG00000171903 ENST00000326742:c.*149T>C,ENST00000248041:c.*4T>C,ENST00000402119:c.*4T>C NA NA NA NA 19p13.12 NA NA NA NA rs1060467 0.3 0.3 0.245 0.255591 0.3807 0.2183 0.3314 0.1657 0.2331 0.4 0.23 0.3 0.22 0.3512 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305285 NA NA 0.400116 0.199274 NA 0.391 NA 3.2013174 1340 19 55525894 55525894 G A exonic GP6 NA synonymous SNV GP6:NM_001083899:exon8:c.C1419T:p.P473P exonic ENSG00000088053 NA synonymous SNV ENSG00000088053:ENST00000310373:exon8:c.C1419T:p.P473P NA NA 19q13.42 NA NA NA NA rs1671151 0.77 0.77 0.73 0.717652 0.8459 0.8125 0.8228 0.4992 0.7086 0.84 0.82 0.84 0.54 0.7904 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 -0.515565 NA NA 0.829248 0.531314 NA 0.703 NA 3.2011186 1340 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 1340 3 195516630 195516630 G T exonic MUC4 NA synonymous SNV MUC4:NM_018406:exon2:c.C1821A:p.S607S exonic ENSG00000145113 NA synonymous SNV ENSG00000145113:ENST00000462323:exon2:c.C1821A:p.S607S,ENSG00000145113:ENST00000463781:exon2:c.C1821A:p.S607S,ENSG00000145113:ENST00000466475:exon2:c.C1821A:p.S607S,ENSG00000145113:ENST00000470451:exon2:c.C1821A:p.S607S,ENSG00000145113:ENST00000475231:exon2:c.C1821A:p.S607S,ENSG00000145113:ENST00000477086:exon2:c.C1821A:p.S607S,ENSG00000145113:ENST00000477756:exon2:c.C1821A:p.S607S,ENSG00000145113:ENST00000478156:exon2:c.C1821A:p.S607S,ENSG00000145113:ENST00000479406:exon2:c.C1821A:p.S607S,ENSG00000145113:ENST00000480843:exon2:c.C1821A:p.S607S NA NA 3q29 NA NA NA NA rs3103954 0.83 0.83 0.876 0.82528 0.841 0.8155 0.6902 0.9947 0.6861 0.84 0.78 0.69 0.99 0.7973 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 -0.54054 NA NA 0.827406 0.966102 NA 0.884 NA 3.2009606 1340 7 107559722 107559722 A T UTR3 DLD NM_000108:c.*18A>T NA NA UTR3 ENSG00000091140 ENST00000205402:c.*18A>T,ENST00000537148:c.*18A>T,ENST00000417551:c.*18A>T,ENST00000415325:c.*1222A>T,ENST00000440410:c.*18A>T,ENST00000437604:c.*18A>T NA NA NA NA 7q31.1 NA NA NA NA rs8721 0.3 0.3 0.262 0.275759 0.3877 0.3452 0.3674 0.0726 0.2986 0.39 0.36 0.36 0.07 0.3602 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.228466 NA NA 0.384679 0.118235 NA 0.261 NA 3.2007544 1340 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 1340 2 85573033 85573033 G A intronic RETSAT NA NA NA exonic ENSG00000042445 NA unknown UNKNOWN NA NA 2p11.2 NA NA NA NA rs908302 0.7 0.7 0.664 0.701877 0.6213 0.9573 0.7781 0.5113 0.7249 0.62 0.95 0.75 0.52 0.6782 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 0.336566 NA NA NA NA NA 0.558 NA 3.2005 1340 6 24448459 24448459 T C intronic GPLD1 NA NA NA intronic ENSG00000112293 NA NA NA NA NA 6p22.3 NA NA NA NA rs13191455 0.19 0.19 0.168 0.192891 0.2753 0.0248 0.2406 0.2284 0.1994 0.27 0.03 0.24 0.21 0.2401 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.740566 NA NA 0.284419 0.256468 NA 0.246 NA 3.200181 1340 X 47430457 47430457 A T intronic ARAF NA NA NA intronic ENSG00000078061 NA NA NA NA NA Xp11.23 NA NA NA NA rs2854412 0.38 0.38 0.36725 NA NA NA NA NA NA 0.38 0.42 0.43 0.29 0.4149 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.125767 NA NA 0.38513 0.312255 NA 0.275 NA 3.19997 1340 2 242283094 242283094 A G intronic SEPT2 NA NA NA intronic ENSG00000168385 NA NA NA NA NA 2q37.3 NA NA NA NA rs6707518 0.74 0.74 0.711 0.706869 0.8002 0.7629 0.8516 0.5356 0.682 0.79 0.76 0.84 0.54 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 -0.71565 NA NA NA NA NA 0.761 NA 3.1998 1340 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 1340 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 1340 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 1340 16 14038552 14038552 G A intronic ERCC4 NA NA NA intronic ENSG00000175595 NA NA NA NA NA 16p13.12 NA NA NA NA rs1799800 0.21 0.21 0.2 0.212061 0.2773 0.25 0.121 0.1626 0.2372 0.25 0.25 0.13 0.15 0.2448 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.282041 NA NA 0.278605 0.161584 ID=COSN165110;OCCURENCE=1(breast),1(large_intestine) 0.268 NA 3.199295 1340 7 99751017 99751017 A G intronic LAMTOR4 NA NA NA intronic ENSG00000188186 NA NA NA NA NA 7q22.1 NA Name=Pol2 NA NA rs3736591 0.57 0.57 0.583 0.588259 0.6064 0.6806 0.4669 0.5265 0.6442 0.61 0.64 0.48 0.48 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 -0.973113 NA NA 0.607209 0.568543 NA 0.536 NA 3.199191 1340 16 89350178 89350178 G A exonic ANKRD11 NA synonymous SNV ANKRD11:NM_001256183:exon9:c.C2772T:p.T924T,ANKRD11:NM_013275:exon9:c.C2772T:p.T924T,ANKRD11:NM_001256182:exon10:c.C2772T:p.T924T exonic ENSG00000167522 NA synonymous SNV ENSG00000167522:ENST00000301030:exon9:c.C2772T:p.T924T,ENSG00000167522:ENST00000378330:exon10:c.C2772T:p.T924T NA NA 16q24.3 NA NA NA NA rs2279349 0.78 0.78 0.801 0.763578 0.8201 0.6161 0.7118 0.8646 0.7577 0.81 0.67 0.77 0.87 0.7981 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 -2.031688 NA NA 0.849884 0.856688 NA 0.812 NA 3.1985826 1340 5 7866967 7866967 G C exonic FASTKD3 NA synonymous SNV FASTKD3:NM_024091:exon2:c.C1230G:p.A410A exonic ENSG00000124279 NA synonymous SNV ENSG00000124279:ENST00000507036:exon1:c.C1230G:p.A410A,ENSG00000124279:ENST00000264669:exon2:c.C1230G:p.A410A NA NA 5p15.31 NA NA NA NA rs162030 0.81 0.81 0.823 0.820487 0.8241 0.6716 0.8458 0.9312 0.8027 0.83 0.66 0.85 0.94 0.8198 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 -1.216942 NA NA 0.824535 0.889242 NA 0.841 NA 3.1982316 1340 2 7164483 7164483 C T intronic RNF144A NA NA NA intronic ENSG00000151692 NA NA NA NA NA 2p25.1 NA NA NA NA rs6709878 0.47 0.47 0.518 0.511981 0.2435 0.5962 0.2983 0.7655 0.5102 0.25 0.61 0.31 0.78 0.3464 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 -1.128569 NA NA 0.212209 0.681344 NA 0.486 NA 3.197891 1340 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 1340 2 237032523 237032523 A G intronic AGAP1 NA NA NA intronic ENSG00000157985 NA NA NA NA NA 2q37.2 NA NA NA NA rs11893568 0.36 0.36 0.371 0.400958 0.2545 0.2788 0.1628 0.7542 0.3691 0.26 0.25 0.22 0.76 0.2975 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 -0.683675 NA NA 0.250465 0.684294 NA 0.355 NA 3.197535 1340 6 32943151 32943151 T C intronic BRD2 NA NA NA intronic ENSG00000204256 NA NA NA NA NA 6p21.32 NA NA Name=6 NA rs635688 0.61 0.61 0.619 0.609225 0.5954 0.504 0.5389 0.7927 0.5337 0.61 0.49 0.53 0.82 0.6097 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 -2.222882 NA NA 0.598007 0.775976 NA 0.768 NA 3.196893 1340 1 227081622 227081622 A G intronic PSEN2 NA NA NA intronic ENSG00000143801 NA NA NA NA NA 1q42.13 NA NA NA NA rs10753428 0.72 0.72 0.729 0.70008 0.8032 0.4931 0.6556 0.7988 0.7055 0.81 0.55 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 -0.864999 NA NA NA NA NA 0.819 NA 3.1968 1340 19 7621981 7621981 A G intronic PNPLA6 NA NA NA intronic ENSG00000032444 NA NA NA NA NA 19p13.2 NA NA NA NA rs2446176 0.77 0.77 0.808 0.80012 0.8032 0.5923 0.7565 0.9327 0.863 0.79 0.6 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 -1.80021 NA NA NA NA NA 0.848 NA 3.1968 1340 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 1340 16 56994894 56994894 G A upstream CETP NA NA NA upstream ENSG00000087237 NA NA NA NA NA 16q13 NA Name=AP-2gamma,AP-2alpha NA NA rs4783961 0.41 0.41 0.416 0.435503 0.4692 0.248 0.4986 0.438 0.546 0.49 0.25 0.46 0.43 0.5102 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.56762 NA NA 0.490704 0.434932 NA 0.529 NA 3.1965626 1340 14 94776387 94776387 A G intronic SERPINA6 NA NA NA intronic ENSG00000170099 NA NA NA NA NA 14q32.13 NA NA NA NA rs2281520 0.21 0.21 0.217 0.179712 0.3012 0.0595 0.1484 0.2277 0.136 0.31 0.08 0.16 0.24 0.231 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.509376 NA NA 0.271395 0.233091 NA 0.188 NA 3.196405 1340 19 18252829 18252829 A G intronic MAST3 NA NA NA intronic ENSG00000099308 NA NA NA NA NA 19p13.11 Score=927;Name=V$NCX_01 NA Name=3 NA rs613339 0.95 0.95 0.938 0.939896 0.9274 0.9623 0.9539 0.9342 0.9274 0.94 0.97 0.94 0.94 0.9398 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 0.497957 NA NA 0.93646 0.940559 NA 0.928 NA 3.19634 1340 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 1340 18 29793526 29793526 C T intronic MEP1B NA NA NA intronic ENSG00000141434,ENSG00000141441 NA NA NA Score=361;Name=lod=39 NA 18q12.1 NA NA NA NA rs335518 0.62 0.62 0.575 0.601038 0.6074 0.871 0.6758 0.3207 0.6421 0.61 0.87 0.64 0.32 0.6149 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 0.061893 NA NA 0.582073 0.349867 NA 0.493 NA 3.195627 1340 9 90584878 90584878 G A intronic CDK20 NA NA NA intronic ENSG00000156345 NA NA NA NA NA 9q22.1 NA NA NA NA rs28364958 0.15 0.15 0.121 0.113818 0.2853 0.003 0.219 0.0227 0.1002 0.29 0.0017 0.24 0.04 0.2237 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395686 NA NA 0.295581 0.055379 NA 0.159 NA 3.195419 1340 2 239261866 239261866 G A intronic TRAF3IP1 NA NA NA intronic ENSG00000204104 NA NA NA NA NA 2q37.3 NA NA NA NA rs3213874 0.17 0.17 0.141 0.165735 0.2823 0.0972 0.2277 0.031 0.2546 0.27 0.09 0.25 0.04 0.2431 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.321239 NA NA 0.279302 0.06877 NA 0.145 NA 3.195298 1341 10 95095667 95095667 A G intronic MYOF NA NA NA intronic ENSG00000138119 NA NA NA NA NA 10q23.33 NA NA NA NA rs7097740 0.39 0.39 0.363 0.430112 0.2276 0.8849 0.3646 0.143 0.6043 0.22 0.88 0.33 0.14 0.3411 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 1.511514 1.511514 NA 0.236701 0.137395 NA 0.348 NA 3.194599 1341 1 180897521 180897521 C T intronic KIAA1614 NA NA NA UTR5 ENSG00000135835 ENST00000367587:c.-121C>T NA NA Score=389;Name=lod=51 NA 1q25.3 NA NA Name=19 NA rs7544551 0.94 0.94 0.928 0.92472 0.997 1 0.9582 0.739 1 1 1 0.96 0.78 0.9768 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.887632 NA NA 0.998685 0.774811 NA 0.877 NA 3.1941817 1341 X 35821302 35821302 C G UTR3 MAGEB16 NM_001099921:c.*14C>G NA NA UTR3 ENSG00000189023 ENST00000399989:c.*14C>G,ENST00000399987:c.*14C>G,ENST00000399992:c.*14C>G,ENST00000399988:c.*14C>G,ENST00000399985:c.*14C>G NA NA NA NA Xp21.1 NA NA NA NA rs4829393 0.61 0.61 NA NA NA NA NA NA NA 0.54 0.74 0.58 0.6 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 0.376448 NA NA 0.53081 0.577969 NA 0.5 NA 3.1940234 1341 1 47583415 47583415 G T intronic CYP4Z1 NA NA NA ncRNA_intronic ENSG00000225506 NA NA NA NA NA 1p33 NA NA NA NA rs6664496 0.57 0.57 0.57 0.59345 0.34 0.9722 0.4683 0.5076 0.6687 0.34 0.99 0.42 0.53 0.464 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 -0.03612 NA NA 0.335465 0.494099 NA 0.42 NA 3.1938683 1341 7 73245519 73245519 T C UTR5 CLDN4 NM_001305:c.-13T>C NA NA UTR5 ENSG00000189143 ENST00000435050:c.-13T>C,ENST00000431918:c.-13T>C,ENST00000340958:c.-13T>C NA NA NA NA 7q11.23 NA Name=Pol2(b),HNF4A,HNF4G_(SC-6558),Pol2-4H8,Pol2 NA NA rs8629 0.61 0.61 0.606 0.580871 0.7256 0.5804 0.6124 0.4629 0.5695 0.73 0.57 0.6 0.46 0.6724 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.975854 1.975854 NA 0.741624 0.519292 NA 0.435 NA 3.1937094 1341 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 1341 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 1341 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 1341 9 132569442 132569442 G A intronic TOR1B NA NA NA intronic ENSG00000136816 NA NA NA NA NA 9q34.11 NA NA NA NA rs2302820 0.25 0.25 0.247 0.261382 0.2883 0.2272 0.2133 0.2368 0.3364 0.29 0.23 0.23 0.22 0.2604 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.55453 1.55453 NA 0.258721 0.260781 NA 0.239 NA 3.192579 1341 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 1341 13 46108854 46108854 G A exonic COG3 NA synonymous SNV COG3:NM_031431:exon23:c.G2475A:p.L825L exonic ENSG00000136152 NA synonymous SNV ENSG00000136152:ENST00000349995:exon23:c.G2475A:p.L825L NA NA 13q14.13 NA NA NA NA rs2985989 0.66 0.66 0.81 0.813698 0.8121 0.881 0.8732 0.705 0.8507 0.66 0.78 0.73 0.49 0.839 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 -1.122314 NA NA 0.823749 0.720327 NA NA NA 3.1918176 1341 6 90387233 90387233 C T intronic MDN1 NA NA NA intronic ENSG00000112159 NA NA NA NA NA 6q15 NA NA NA NA rs6454769 0.85 0.85 0.831 0.830272 0.8082 0.9643 0.8674 0.7799 0.7566 0.81 0.97 0.85 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 0.804556 NA NA NA NA NA 0.819 NA 3.1918 1341 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 1341 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 1341 18 51804259 51804259 C T intronic POLI NA NA NA intronic ENSG00000101751 NA NA NA NA NA 18q21.2 NA NA NA NA rs610281 0.19 0.19 0.18 0.197684 0.2734 0.0347 0.1988 0.2186 0.2587 0.27 0.03 0.24 0.21 0.251 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.222265 NA NA 0.284302 0.239673 NA 0.152 NA 3.191298 1341 6 33631696 33631696 G A intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs2296337 0.25 0.25 0.211 0.276757 0.2465 0.4157 0.2637 0.1203 0.3855 0.24 0.38 0.25 0.11 0.2858 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144693 NA NA 0.276628 0.141398 NA 0.283 NA 3.191072 1341 14 37203697 37203697 G A intronic SLC25A21 NA NA NA intronic ENSG00000183032 NA NA NA NA NA 14q13.3 NA NA NA NA rs10135196 0.27 0.27 0.247 0.247604 0.2445 0.3056 0.3862 0.149 0.226 0.23 0.34 0.37 0.17 0.3392 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085174 NA NA 0.226395 0.177031 NA 0.29 NA 3.189905 1341 9 101818716 101818716 T C intronic COL15A1 NA NA NA intronic ENSG00000204291 NA NA NA NA NA 9q22.33 NA NA NA NA rs11788317 0.42 0.42 0.427 0.46246 0.2416 0.6538 0.3804 0.4251 0.6012 0.24 0.69 0.35 0.43 0.3372 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 -0.649033 NA NA 0.231602 0.385279 NA 0.348 NA 3.189598 1341 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 1341 14 67912792 67912792 A G intergenic PLEK2,TMEM229B dist=33964;dist=24191 NA NA intergenic ENSG00000265993,ENSG00000198133 dist=4145;dist=1009 NA NA NA NA 14q24.1 NA Name=HA-E2F1 NA NA rs3742855 0.45 0.45 0.452 0.506789 0.3509 0.2907 0.5115 0.792 0.501 0.35 0.27 0.52 0.75 0.4138 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 -0.437742 NA NA 0.379206 0.696347 NA 0.442 NA 3.1894274 1341 14 22997524 22997524 A G intergenic OR4E2,DAD1 dist=863286;dist=36283 NA NA exonic ENSG00000211873 NA unknown UNKNOWN Score=313;Name=lod=25 NA 14q11.2 NA NA NA NA rs227024 0.79 0.79 0.788 0.811701 0.6243 0.9583 0.7738 0.8548 0.8221 0.63 0.96 0.73 0.86 0.738 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 -0.237809 NA NA 0.615038 0.824099 NA 0.725 NA 3.1893287 1341 2 240923147 240923147 C T intronic NDUFA10 NA NA NA intronic ENSG00000130414 NA NA NA NA NA 2q37.3 NA NA NA NA rs2887406 0.38 0.38 NA 0.360423 0.4115 0.4395 0.4438 0.2958 0.2546 0.4 0.39 0.43 0.3 0.3994 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.64823 NA NA NA NA NA NA NA 3.1891 1341 6 161137663 161137663 T G intronic PLG NA NA NA intronic ENSG00000122194 NA NA NA NA NA 6q26 NA NA NA NA rs4252109 0.16 0.16 0.143 0.13758 0.2932 NA 0.1744 0.1445 0.0838 0.28 NA 0.2 0.13 0.2168 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.291811 1.291811 NA 0.30093 0.17567 NA 0.254 NA 3.18907 1341 10 120819453 120819453 A G intronic EIF3A NA NA NA intronic ENSG00000107581 NA NA NA NA NA 10q26.11 NA NA NA NA rs10787901 0.7 0.7 0.669 0.679513 0.8111 0.877 0.7089 0.289 0.8476 0.82 0.86 0.72 0.33 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 0.510657 NA NA NA NA NA 0.623 NA 3.1889 1341 10 120819458 120819458 T C intronic EIF3A NA NA NA intronic ENSG00000107581 NA NA NA NA NA 10q26.11 NA NA NA NA rs10787902 0.7 0.7 0.669 0.679513 0.8111 0.877 0.7089 0.289 0.8476 0.82 0.86 0.72 0.33 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 0.229308 NA NA NA NA NA 0.623 NA 3.1889 1341 17 35692348 35692348 A G intronic ACACA NA NA NA intronic ENSG00000132142 NA NA NA NA NA 17q12 NA NA NA NA rs4795192 0.57 0.57 0.58 0.569089 0.8111 0.6915 0.5159 0.2027 0.727 0.77 0.62 0.51 0.25 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 1.137279 NA NA NA NA NA 0.5 NA 3.1889 1341 1 16534730 16534730 G A intronic ARHGEF19 NA NA NA intronic ENSG00000142632 NA NA NA NA NA 1p36.13 NA NA NA NA rs221059 0.22 0.22 0.18 0.266773 0.2654 0.1528 0.4063 0.1664 0.4223 0.28 0.13 0.34 0.15 0.2848 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827554 NA NA 0.260991 0.175443 NA 0.232 NA 3.188809 1341 11 76827360 76827360 A G intronic CAPN5 NA NA NA intronic ENSG00000149260 NA NA NA NA NA 11q13.5 NA NA NA NA rs11604536 0.35 0.35 0.339 0.355431 0.2416 0.4167 0.2651 0.4713 0.317 0.25 0.42 0.27 0.48 0.3137 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.286636 2.286636 NA 0.255941 0.439773 NA 0.283 NA 3.188759 1341 8 11705342 11705342 G C intronic CTSB NA NA NA intronic ENSG00000164733 NA NA NA NA NA 8p23.1 NA Name=Pol2-4H8 NA NA rs1736088 0.56 0.56 0.531 0.549321 0.6243 0.497 0.5605 0.5507 0.5164 0.61 0.48 0.57 0.58 0.5681 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.076394 NA NA 0.618953 0.551975 NA 0.594 NA 3.188647 1341 5 79960955 79960955 G A intronic MSH3 NA NA NA intronic ENSG00000113318 NA NA NA NA NA 5q14.1 NA NA NA NA rs1382543 0.22 0.22 0.222 0.249401 0.2584 0.0565 0.2118 0.3442 0.3374 0.26 0.05 0.25 0.33 0.2654 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.735738 NA NA 0.28814 0.336512 NA 0.246 NA 3.18806 1341 10 33495304 33495304 A G intronic NRP1 NA NA NA intronic ENSG00000099250 NA NA NA NA NA 10p11.22 NA NA NA NA rs11815912 0.33 0.33 0.272 0.331869 0.2455 0.6002 0.4294 0.1067 0.3793 0.23 0.62 0.37 0.13 0.3033 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.917448 NA NA 0.263184 0.150685 NA NA NA 3.188016 1341 15 49800394 49800394 G A intronic FAM227B NA NA NA intronic ENSG00000166262 NA NA NA NA NA 15q21.2 NA NA NA NA rs58845336 0.37 0.37 0.349 0.3748 0.2406 0.3938 0.4337 0.4955 0.2883 0.23 0.42 0.41 0.49 0.3088 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.075237 NA NA 0.262747 0.459472 NA 0.471 NA 3.187853 1341 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 1341 9 140055876 140055876 G A intronic GRIN1 NA NA NA intronic ENSG00000176884 NA NA NA NA NA 9q34.3 NA NA Name=18 NA rs10747050 0.96 0.96 0.954 0.933506 0.9443 0.9792 0.9424 0.9826 0.8027 0.95 0.98 0.93 0.97 0.9356 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 0.9491 NA NA 0.932395 0.974989 NA 0.043 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117168.2;CLNDSDB=.;CLNDSDBID=. 3.187705 1341 2 27163044 27163044 T C intronic DPYSL5 NA NA NA intronic ENSG00000157851 NA NA NA NA NA 2p23.3 NA NA Name=5 NA rs3739085 0.6 0.6 0.606 0.608227 0.6213 0.6944 0.4452 0.5666 0.6779 0.64 0.64 0.46 0.59 0.5873 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581364 NA NA 0.604419 0.585338 NA 0.558 NA 3.186981 1341 19 17887024 17887024 T C intronic FCHO1 NA NA NA intronic ENSG00000130475 NA NA NA NA NA 19p13.11 NA Name=EBF1_(C-8),EBF Name=48 NA rs2287853 0.88 0.88 0.882 0.866813 0.9543 0.8254 0.8977 0.7844 0.909 0.96 0.83 0.91 0.81 0.9143 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 0.672689 NA NA 0.944535 0.817295 NA 0.891 NA 3.186865 1341 10 17636182 17636182 G C intronic PTPLA NA NA NA intronic ENSG00000165996 NA NA NA NA NA 10p12.33 NA NA NA NA rs2272144 0.19 0.19 0.184 0.192692 0.3012 0.0685 0.1686 0.2224 0.1861 0.28 0.05 0.2 0.22 0.2342 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247013 NA NA 0.277778 0.228604 NA 0.319 NA 3.186822 1341 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 1341 2 240923146 240923146 T C intronic NDUFA10 NA NA NA intronic ENSG00000130414 NA NA NA NA NA 2q37.3 NA NA NA NA rs6716293 0.38 0.38 0.038 0.359824 0.4115 0.4395 0.4424 0.295 0.2536 0.4 0.39 0.43 0.3 0.4013 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.02934 NA NA 0.001268 0.000578 NA NA NA 3.185932 1341 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 1342 2 216251697 216251697 G A intronic FN1 NA NA NA intronic ENSG00000115414 NA NA NA NA NA 2q35 NA NA NA NA rs35343655 0.42 0.42 0.412 0.373602 0.2515 0.7669 0.4063 0.2345 0.2587 0.25 0.82 0.4 0.24 0.3241 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 1.278004 1.278004 NA 0.239767 0.2399 NA 0.478 NA 3.184633 1342 3 193036794 193036794 G C exonic ATP13A5 NA synonymous SNV ATP13A5:NM_198505:exon17:c.C2019G:p.V673V exonic ENSG00000187527 NA synonymous SNV ENSG00000187527:ENST00000342358:exon17:c.C2019G:p.V673V NA NA 3q29 NA NA NA NA rs6788770 0.88 0.88 0.884 0.895966 0.8171 0.9821 0.8415 0.9334 0.8763 0.8 0.97 0.84 0.94 0.8495 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 -1.606896 NA NA 0.815465 0.913754 NA 0.935 NA 3.1846016 1342 1 876499 876499 A G intronic SAMD11 NA NA NA intronic ENSG00000187634 NA NA NA NA NA 1p36.33 NA Name=AP-2gamma Name=26 NA rs4372192 0.92 0.92 0.894 0.913139 0.9503 0.9206 0.9207 0.8737 0.9151 0.95 0.92 0.92 0.86 0.9276 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 1.012456 NA NA 0.937676 0.88331 NA 0.899 NA 3.184424 1342 17 48172779 48172779 A C UTR5 PDK2 NM_001199900:c.-21A>C,NM_002611:c.-21A>C NA NA UTR5 ENSG00000005882 ENST00000503176:c.-21A>C NA NA NA NA 17q21.33 NA Name=AP-2alpha,AP-2gamma,SP1,YY1_(C-20),HEY1,Pol2-4H8,RFX5_(N-494),TAF1,IRF3,E2F6,CHD2_(N-1250),HA-E2F1,Pol2 NA NA rs7221362 0.82 0.82 0.786 0.838059 0.6988 0.9524 0.8617 0.8033 0.8937 0.7 0.96 0.85 0.81 0.7537 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 2.067102 2.067102 NA 0.69642 0.797341 NA 0.609 NA 3.1844134 1342 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 1342 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 1342 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 1342 6 161143608 161143608 T C intronic PLG NA NA NA intronic ENSG00000122194 NA NA NA NA NA 6q26 NA NA NA NA rs4252120 0.16 0.16 0.154 0.139976 0.2962 NA 0.1787 0.1528 0.0787 0.28 NA 0.2 0.14 0.2171 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.051328 NA NA 0.303023 0.182478 NA 0.254 NA 3.183677 1342 19 1924077 1924077 C T intronic SCAMP4 NA NA NA intronic ENSG00000227500 NA NA NA NA NA 19p13.3 NA NA NA NA rs7251454 0.16 0.16 NA 0.213259 0.4105 0.0308 0.245 0.1082 0.318 0.29 0.02 0.21 0.08 0.406 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.677669 NA NA NA NA NA NA NA 3.1835 1342 19 1924076 1924076 T C intronic SCAMP4 NA NA NA intronic ENSG00000227500 NA NA NA NA NA 19p13.3 NA NA NA NA rs7255232 0.16 0.16 NA 0.214058 0.4125 0.0298 0.2464 0.1097 0.318 0.29 0.02 0.21 0.08 0.4041 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.040687 NA NA NA NA NA NA NA 3.1834 1342 1 19651300 19651300 T C intronic PQLC2 NA NA NA intronic ENSG00000040487 NA NA NA NA NA 1p36.13 NA NA NA NA rs41264071 0.17 0.17 0.167 0.205671 0.2873 0.0833 0.1816 0.1581 0.3292 0.28 0.06 0.2 0.12 0.2452 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038852 NA NA 0.284136 0.179301 NA 0.297 NA 3.183364 1342 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 1342 10 104592249 104592249 A C intronic CYP17A1 NA NA NA intronic ENSG00000148795 NA NA NA NA NA 10q24.32 NA NA NA NA rs4919686 0.18 0.18 0.162 0.138778 0.2982 0.1617 0.1873 0.0242 0.0716 0.3 0.12 0.2 0.03 0.2238 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.664073 NA NA 0.295233 0.074444 NA 0.116 NA 3.182767 1342 5 156747632 156747632 C G intronic CYFIP2 NA NA NA intronic ENSG00000055163 NA NA NA NA NA 5q33.3 NA NA NA NA rs2863198 0.31 0.31 0.317 0.331669 0.2664 0.2738 0.2017 0.525 0.2894 0.27 0.24 0.2 0.53 0.2817 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.170992 NA NA 0.269556 0.471965 NA 0.326 NA 3.182344 1342 8 17611886 17611886 G A exonic MTUS1 NA synonymous SNV MTUS1:NM_001001924:exon2:c.C1431T:p.P477P,MTUS1:NM_001001925:exon2:c.C1431T:p.P477P exonic ENSG00000129422 NA synonymous SNV ENSG00000129422:ENST00000519263:exon1:c.C1431T:p.P477P,ENSG00000129422:ENST00000262102:exon2:c.C1431T:p.P477P,ENSG00000129422:ENST00000381862:exon2:c.C1431T:p.P477P,ENSG00000129422:ENST00000381869:exon2:c.C1431T:p.P477P NA NA 8p22 NA NA NA NA rs2979788 0.68 0.68 0.647 0.667732 0.8519 0.5942 0.8228 0.3661 0.8517 0.86 0.63 0.83 0.37 0.7946 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 -1.277207 NA NA 0.838085 0.462852 NA 0.688 NA 3.1820816 1342 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 1342 7 11464297 11464297 T C intronic THSD7A NA NA NA ncRNA_intronic ENSG00000230333 NA NA NA NA NA 7p21.3 NA NA NA NA rs1859226 0.44 0.44 0.429 0.415735 0.3777 0.2907 0.5303 0.6377 0.2025 0.38 0.31 0.5 0.63 0.3971 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694597 NA NA 0.376958 0.584141 NA 0.413 NA 3.1815753 1342 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 1342 16 81241098 81241098 C T exonic PKD1L2 NA synonymous SNV PKD1L2:NM_001076780:exon5:c.G903A:p.P301P exonic ENSG00000166473,ENSG00000269323 NA synonymous SNV ENSG00000166473:ENST00000337114:exon5:c.G903A:p.P301P,ENSG00000269323:ENST00000599697:exon5:c.G903A:p.P301P NA NA 16q23.2 NA NA NA NA rs11150369 0.76 0.76 0.753 0.701677 0.8539 0.8839 0.7378 0.4561 0.6636 0.86 0.86 0.79 0.47 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 -1.248871 NA NA 0.842233 0.526927 NA 0.275 NA 3.1793336 1342 11 4703165 4703165 C A exonic OR51E2 NA synonymous SNV OR51E2:NM_030774:exon2:c.G777T:p.V259V exonic ENSG00000167332 NA synonymous SNV ENSG00000167332:ENST00000396950:exon2:c.G777T:p.V259V NA NA 11p15.4 NA NA NA NA rs1123991 0.76 0.76 0.738 0.751997 0.83 0.8214 0.768 0.5287 0.8906 0.84 0.82 0.78 0.54 0.8203 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 0.258881 NA NA 0.837483 0.571331 NA 0.783 NA 3.1788836 1342 1 200957691 200957691 G C intronic KIF21B NA NA NA intronic ENSG00000116852 NA NA NA NA NA 1q32.1 NA NA NA NA rs2297912 0.35 0.35 0.453 0.360024 0.1918 0.5139 0.2536 0.528 0.2229 0.18 0.54 0.23 0.48 0.3948 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.057296 NA NA 0.234795 0.534269 NA 0.254 NA 3.178605 1342 19 13988040 13988040 C T upstream NANOS3 NA NA NA intronic ENSG00000187556 NA NA NA NA NA 19p13.13 NA NA NA NA rs897790 0.26 0.26 0.237 0.267772 0.2097 0.3194 0.2089 0.2655 0.319 0.21 0.36 0.2 0.25 0.2355 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582296 NA NA 0.209662 0.255831 NA 0.21 NA 3.1784713 1342 14 58036494 58036494 G A intronic SLC35F4 NA NA NA intronic ENSG00000151812 NA NA NA NA NA 14q22.3 NA NA NA NA rs2297113 0.19 0.19 0.167 0.174521 0.2674 0.122 0.3516 0.0189 0.2178 0.27 0.12 0.36 0.03 0.2897 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.207261 NA NA 0.264932 0.056716 NA 0.152 NA 3.177968 1342 14 23311044 23311044 T C intronic MMP14 NA NA NA intronic ENSG00000157227 NA NA NA NA NA 14q11.2 NA NA NA NA rs57542488 NA NA NA 0.866214 0.8221 0.998 0.8545 0.8548 0.7996 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143222 NA NA NA NA NA NA NA 3.1779 1342 X 129269980 129269980 G A intronic AIFM1 NA NA NA intronic ENSG00000156709 NA NA NA NA NA Xq26.1 NA NA NA NA rs209998 0.44 0.44 0.41812 NA NA NA NA NA NA 0.42 0.2 0.53 0.66 0.4263 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 0.712936 NA NA 0.396403 0.64824 NA 0.37 NA 3.177297 1342 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 1342 17 72338765 72338765 G A intronic KIF19 NA NA NA intronic ENSG00000196169 NA NA NA NA NA 17q25.1 NA NA NA NA rs12601559 0.24 0.24 0.208 0.245407 0.2704 0.3423 0.2867 0.0817 0.3119 0.26 0.29 0.28 0.11 0.2779 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.253415 NA NA 0.274651 0.098275 ID=COSM148337;OCCURENCE=1(stomach) 0.188 NA 3.177049 1342 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 1342 1 19651277 19651277 G A intronic PQLC2 NA NA NA intronic ENSG00000040487 NA NA NA NA NA 1p36.13 NA NA NA NA rs41264069 0.17 0.17 0.173 0.205871 0.2873 0.0833 0.183 0.1581 0.3292 0.28 0.06 0.2 0.12 0.2492 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.327354 1.327354 NA 0.286977 0.180663 NA 0.297 NA 3.176523 1342 12 108150758 108150758 C A intronic PRDM4 NA NA NA ncRNA_intronic ENSG00000258136 NA NA NA NA NA 12q23.3 NA NA NA NA rs1814335 0.21 0.21 0.196 0.215056 0.4175 0.0903 0.2594 0.0257 0.3599 0.4 0.09 0.26 0.04 0.3316 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.981323 NA NA 0.40814 0.082161 NA 0.181 NA 3.1760933 1342 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 1342 15 31330280 31330280 A G exonic TRPM1 NA synonymous SNV TRPM1:NM_001252020:exon18:c.T2457C:p.N819N,TRPM1:NM_002420:exon18:c.T2340C:p.N780N,TRPM1:NM_001252024:exon19:c.T2406C:p.N802N exonic ENSG00000134160 NA synonymous SNV ENSG00000134160:ENST00000558768:exon16:c.T2112C:p.N704N,ENSG00000134160:ENST00000397795:exon18:c.T2340C:p.N780N,ENSG00000134160:ENST00000542188:exon18:c.T2457C:p.N819N,ENSG00000134160:ENST00000558445:exon18:c.T2340C:p.N780N,ENSG00000134160:ENST00000256552:exon19:c.T2406C:p.N802N NA NA 15q13.3 NA NA NA NA rs2288242 0.81 0.81 0.779 0.759385 0.8469 0.9524 0.8689 0.5749 0.6421 0.84 0.95 0.84 0.58 0.8104 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 -0.063839 NA NA 0.833537 0.642091 NA 0.732 NA 3.1758296 1343 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 1343 20 1615959 1615959 T C exonic SIRPG NA synonymous SNV SIRPG:NM_018556:exon4:c.A1035G:p.L345L exonic ENSG00000089012 NA synonymous SNV ENSG00000089012:ENST00000303415:exon4:c.A1035G:p.L345L,ENSG00000089012:ENST00000381580:exon4:c.A936G:p.L312L NA NA 20p13 NA NA NA NA rs9305125 0.87 0.87 0.873 0.894169 0.8151 0.8681 0.8646 0.9894 0.8947 0.82 0.85 0.85 0.99 0.8582 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 -0.5265 NA NA 0.818605 0.962097 NA 0.884 NA 3.1747616 1343 22 50882590 50882590 G A intronic PPP6R2 NA NA NA intronic ENSG00000100239 NA NA NA NA NA 22q13.33 NA NA NA NA rs6010031 0.21 0.21 0.197 0.190495 0.2942 0.1419 0.2565 0.0961 0.2147 0.29 0.14 0.27 0.13 0.2449 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205775 NA NA 0.286395 0.124603 NA 0.341 NA 3.174505 1343 1 12779560 12779560 T C exonic AADACL3 NA synonymous SNV AADACL3:NM_001103170:exon2:c.T81C:p.D27D exonic ENSG00000188984 NA synonymous SNV ENSG00000188984:ENST00000359318:exon2:c.T81C:p.D27D NA NA 1p36.21 NA NA NA NA rs3010876 0.85 0.85 0.86 0.849441 0.83 0.7817 0.8818 0.9228 0.817 0.84 0.81 0.87 0.92 0.8328 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 -1.258659 NA NA 0.829362 0.914921 NA 0.804 NA 3.1745046 1343 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 1343 2 170053580 170053580 C T intronic LRP2 NA NA NA intronic ENSG00000081479 NA NA NA NA NA 2q31.1 NA NA NA NA rs2302696 0.38 0.38 0.395 0.342851 0.2644 0.5268 0.2291 0.4501 0.1697 0.28 0.55 0.23 0.44 0.2924 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.616367 1.616367 NA 0.268837 0.430095 NA 0.312 NA 3.174363 1343 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 1343 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 1343 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 1343 6 33636232 33636232 T C intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs9380372 0.81 0.81 0.759 0.829473 0.826 0.8224 0.8487 0.7496 0.9346 0.82 0.82 0.83 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 -0.249645 NA NA NA NA NA 0.87 NA 3.174 1343 8 134274226 134274226 C G intronic NDRG1 NA NA NA intronic ENSG00000104419 NA NA NA NA NA 8q24.22 NA NA NA NA rs2233324 0.89 0.89 0.91 0.907748 0.826 0.999 0.8674 0.8691 0.9785 0.84 1 0.86 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 -0.209967 NA NA NA NA NA 0.797 NA 3.174 1343 16 53325691 53325691 G A intronic CHD9 NA NA NA intronic ENSG00000177200 NA NA NA NA NA 16q12.2 NA NA NA NA rs1894903 0.27 0.27 0.277 0.255591 0.2724 0.2331 0.17 0.3026 0.2587 0.28 0.24 0.2 0.33 0.2686 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.073648 NA NA 0.285102 0.280649 NA 0.275 NA 3.173898 1343 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 1343 22 43570659 43570659 A C intronic TTLL12 NA NA NA intronic ENSG00000100304 NA NA NA NA NA 22q13.2 NA NA NA NA rs2269526 0.37 0.37 0.378 0.396366 0.2744 0.2917 0.2363 0.6747 0.3671 0.29 0.3 0.25 0.64 0.2963 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.781632 NA NA 0.256279 0.616886 NA 0.377 NA 3.173021 1343 4 170354873 170354873 T C intronic NEK1 NA NA NA intronic ENSG00000137601 NA NA NA NA NA 4q33 NA NA NA NA rs13139925 0.72 0.72 0.674 0.686502 0.827 0.7837 0.8184 0.3578 0.7924 0.84 0.79 0.8 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 -0.886567 NA NA NA NA NA 0.486 NA 3.173 1343 11 65824472 65824472 C T intronic SF3B2 NA NA NA intronic ENSG00000087365 NA NA NA NA NA 11q13.1 NA NA NA NA rs547404 0.29 0.29 0.279 0.260383 0.2734 0.245 0.4308 0.2927 0.0982 0.27 0.24 0.38 0.33 0.2783 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.806128 NA NA 0.275786 0.300772 NA 0.29 NA 3.172514 1343 17 26108040 26108040 T C intronic NOS2 NA NA NA intronic ENSG00000007171 NA NA NA NA NA 17q11.2 NA NA Name=2 NA rs2297520 0.65 0.65 0.617 0.686102 0.5845 0.5 0.7219 0.8313 0.7607 0.59 0.5 0.7 0.86 0.6447 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 -0.235161 NA NA 0.598441 0.788016 NA 0.768 NA 3.172359 1343 21 45215051 45215051 A G intronic RRP1 NA NA NA intronic ENSG00000160214 NA NA NA NA NA 21q22.3 NA NA NA NA rs2838372 0.35 0.35 0.329 0.370008 0.2495 0.5565 0.3631 0.2428 0.4785 0.26 0.56 0.37 0.23 0.3266 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429483 NA NA 0.251824 0.25338 NA 0.355 NA 3.172076 1343 16 53191470 53191470 T C intronic CHD9 NA NA NA intronic ENSG00000177200 NA NA NA NA NA 16q12.2 NA NA NA NA rs12597487 0.26 0.26 0.257 0.258586 0.2724 0.2331 0.17 0.3018 0.2751 0.28 0.24 0.2 0.33 0.2734 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.708575 NA NA 0.282126 0.274515 NA 0.275 NA 3.172074 1343 3 38406648 38406648 T C intronic XYLB NA NA NA intronic ENSG00000093217 NA NA NA NA NA 3p22.2 NA Name=USF-1 Name=2 NA rs704942 0.93 0.93 0.905 0.931709 0.9423 0.995 0.9539 0.8306 0.9765 0.94 0.99 0.95 0.8 0.9463 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 -0.066822 NA NA 0.939419 0.869269 NA 0.913 NA 3.171981 1343 22 20113777 20113777 T C intronic RANBP1 NA NA NA intronic ENSG00000099901 NA NA NA NA NA 22q11.21 NA NA NA NA rs175163 0.24 0.24 0.241 0.260783 0.2783 0.1746 0.2161 0.3041 0.3047 0.28 0.16 0.2 0.3 0.2713 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.382955 NA NA 0.278553 0.305177 NA 0.232 NA 3.171847 1343 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 1343 2 220072766 220072766 G T intronic ZFAND2B NA NA NA UTR3 ENSG00000158552 ENST00000409412:c.*2G>T,ENST00000409319:c.*2G>T NA NA NA NA 2q35 NA Name=ELF1_(SC-631) Name=105 NA rs4674366 0.99 0.99 0.983 0.986222 1 1 0.9971 0.9493 1 1 1 1 0.94 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.921955 NA NA 0.999418 0.957766 NA 1 NA 3.1716487 1343 10 33510614 33510614 G A intronic NRP1 NA NA NA intronic ENSG00000099250 NA NA NA NA NA 10p11.22 NA NA NA NA rs4934837 0.42 0.42 0.329 0.359225 0.2485 0.623 0.4337 0.18 0.3906 0.32 0.67 0.41 0.32 0.3142 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 0.313462 NA NA 0.265698 0.208125 NA 0.341 NA 3.171602 1343 17 48263021 48263021 C T intronic COL1A1 NA NA NA intronic ENSG00000108821 NA NA NA NA NA 17q21.33 NA NA Name=58 NA rs2249492 0.52 0.52 0.496 0.485024 0.6213 0.496 0.6542 0.2224 0.5685 0.63 0.51 0.67 0.25 0.5828 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 0.41933 NA NA 0.624302 0.287789 NA 0.471 NA 3.171598 1343 3 10382148 10382148 G A intronic ATP2B2 NA NA NA intronic ENSG00000157087 NA NA NA NA NA 3p25.3 Score=898;Name=V$CP2_01 NA NA NA rs154242 0.71 0.71 0.678 0.758586 0.5845 0.8849 0.7363 0.7443 0.8425 0.58 0.91 0.7 0.71 0.6624 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 -1.609308 NA NA 0.581512 0.679755 NA 0.819 NA 3.171588 1343 12 108918146 108918146 C T exonic SART3 NA synonymous SNV SART3:NM_014706:exon18:c.G2661A:p.P887P exonic ENSG00000075856 NA synonymous SNV ENSG00000075856:ENST00000547397:exon3:c.G378A:p.P126P,ENSG00000075856:ENST00000431469:exon17:c.G2553A:p.P851P,ENSG00000075856:ENST00000228284:exon18:c.G2661A:p.P887P NA NA 12q23.3 NA NA NA NA rs2303633 0.83 0.83 0.826 0.808107 0.83 0.9355 0.8343 0.6475 0.8528 0.82 0.92 0.84 0.71 0.8312 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 -0.263025 NA NA 0.834419 0.669542 NA 0.819 NA 3.1710476 1343 12 108140032 108140032 T C intronic PRDM4 NA NA NA ncRNA_intronic ENSG00000258136 NA NA NA NA NA 12q23.3 NA NA NA NA rs3803120 0.22 0.22 0.213 0.221446 0.4185 0.12 0.2608 0.0257 0.3599 0.4 0.11 0.26 0.04 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 1.824037 1.824037 NA 0.408023 0.083069 ID=COSN164362;OCCURENCE=1(breast) 0.188 NA 3.1708103 1343 15 59515434 59515434 C T intronic MYO1E NA NA NA intronic ENSG00000157483 NA NA NA NA NA 15q22.2 NA Name=GATA-2 NA NA rs2306779 0.42 0.42 0.393 0.379992 0.6262 0.2798 0.4813 0.1846 0.4223 0.62 0.29 0.49 0.22 0.5335 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 0.209697 NA NA 0.66993 0.28105 NA 0.428 NA 3.17037 1343 12 108923950 108923950 A G exonic SART3 NA synonymous SNV SART3:NM_014706:exon15:c.T1884C:p.D628D exonic ENSG00000075856 NA synonymous SNV ENSG00000075856:ENST00000431469:exon14:c.T1776C:p.D592D,ENSG00000075856:ENST00000228284:exon15:c.T1884C:p.D628D,ENSG00000075856:ENST00000546815:exon15:c.T1938C:p.D646D NA NA 12q23.3 NA NA NA NA rs1549096 0.83 0.83 0.818 0.808506 0.831 0.9365 0.8343 0.6475 0.8528 0.83 0.92 0.84 0.71 0.8311 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 -1.161298 NA NA 0.834419 0.668634 NA 0.812 NA 3.1701476 1343 12 108136172 108136172 A G intronic PRDM4 NA NA NA ncRNA_intronic ENSG00000258136 NA NA NA NA NA 12q23.3 NA NA NA NA rs2302734 0.22 0.22 0.204 0.221446 0.4185 0.12 0.2608 0.0257 0.3599 0.4 0.11 0.26 0.04 0.3362 0.41 NA NA 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 0.408488 0.083069 NA 0.188 NA 3.1701453 1343 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 1343 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 1343 7 33380598 33380598 G T intronic BBS9 NA NA NA intronic ENSG00000122507 NA NA NA NA NA 7p14.3 NA NA NA NA rs11981364 0.21 0.21 0.178 0.199081 0.2903 0.0843 0.2003 0.2088 0.2096 0.28 0.09 0.23 0.23 0.2435 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.689212 2.689212 NA 0.29665 0.236723 NA 0.246 NA 3.16955 1343 14 54418986 54418986 T C intronic BMP4 NA NA NA intronic ENSG00000125378 NA NA NA Score=770;Name=lod=1803 NA 14q22.2 Score=941;Name=V$HFH3_01 NA NA NA rs2761880 0.78 0.78 0.774 0.730032 0.9682 0.7034 0.7896 0.4909 0.7935 0.98 0.71 0.8 0.54 0.8873 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 4.54991 4.54991 NA 0.975337 0.600273 NA 0.797 NA 3.169163 1343 15 34014913 34014913 C T intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs2293028 0.37 0.37 0.37 0.40635 0.2445 0.5933 0.281 0.3495 0.546 0.23 0.58 0.32 0.38 0.3263 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42879 NA NA 0.260163 0.330727 NA 0.312 NA 3.169037 1343 11 2182224 2182224 A T UTR5 INS NM_001185098:c.-23T>A NA NA UTR5 ENSG00000254647 ENST00000397262:c.-23T>A,ENST00000421783:c.-23T>A NA NA NA Name=Type 1 diabetes autoantibodies 11p15.5 NA NA NA NA rs689 0.66 0.66 0.641 0.649561 0.7256 0.9415 0.7233 0.1808 0.8517 0.72 0.95 0.71 0.21 0.7268 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 -0.183057 NA NA 0.711987 0.28366 NA 0.645 NA 3.1689464 1343 17 73559563 73559563 G A intronic LLGL2 NA NA NA intronic ENSG00000073350 NA NA NA NA NA 17q25.1 NA NA NA NA rs1671028 0.27 0.27 0.285 0.260383 0.2823 0.1429 0.2248 0.4191 0.1697 0.29 0.13 0.23 0.44 0.2577 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.880306 NA NA 0.291298 0.368815 NA 0.261 NA 3.168702 1343 5 10254817 10254817 A G exonic CCT5 NA synonymous SNV CCT5:NM_012073:exon3:c.A198G:p.G66G exonic ENSG00000150753 NA synonymous SNV ENSG00000150753:ENST00000280326:exon3:c.A198G:p.G66G,ENSG00000150753:ENST00000503026:exon3:c.A135G:p.G45G,ENSG00000150753:ENST00000515676:exon3:c.A84G:p.G28G NA NA 5p15.2 NA NA NA NA rs2578617 0.75 0.75 0.716 0.685903 0.8539 0.879 0.7752 0.388 0.6534 0.85 0.88 0.8 0.4 0.7895 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 0.441183 NA NA 0.854884 0.452792 NA 0.681 NA 3.1683826 1343 11 61731534 61731534 G T intronic BEST1 NA NA NA UTR3 ENSG00000167995 ENST00000449131:c.*913G>T NA NA NA NA 11q12.3 NA Name=ZBTB33,BRF2,CCNT2,Pol2(b),TAF7_(SQ-8),Pol2(phosphoS2),Pol2,HEY1,Pol2-4H8,BCL3 Name=134 NA rs195155 0.91 0.91 0.999 0.996406 1 1 1 0.9864 1 0.91 0.94 0.94 0.86 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.061454 NA NA 0.999884 0.986376 NA 0.993 NA 3.1681827 1343 8 87464759 87464759 C T intronic WWP1 NA NA NA intronic ENSG00000123124 NA NA NA NA NA 8q21.3 NA NA NA NA rs10110096 0.28 0.28 0.281 0.288938 0.2763 0.0506 0.1988 0.618 0.1667 0.28 0.06 0.23 0.57 0.2709 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.719725 NA NA 0.284651 0.533848 NA 0.246 NA 3.168149 1343 12 3768705 3768705 C A intronic EFCAB4B NA NA NA intronic ENSG00000130038 NA NA NA NA NA 12p13.32 NA NA NA NA rs10848906 0.26 0.26 0.232 0.242013 0.2773 0.3948 0.2248 0.0257 0.3528 0.29 0.42 0.23 0.03 0.2674 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.66031 NA NA 0.287209 0.07172 ID=COSN164114;OCCURENCE=1(breast) 0.203 NA 3.168091 1343 8 118165149 118165149 A G intronic SLC30A8 NA NA NA intronic ENSG00000164756 NA NA NA NA NA 8q24.11 NA NA NA NA rs6469675 0.4 0.4 0.416 0.419529 0.2575 0.3383 0.2406 0.7844 0.3037 0.27 0.36 0.24 0.77 0.3101 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 0.701591 NA NA 0.264419 0.678166 NA 0.442 NA 3.167981 1343 20 44983517 44983517 G A intronic SLC35C2 NA NA NA intronic ENSG00000080189 NA NA NA NA NA 20q13.12 NA NA NA NA rs12480667 0.16 0.16 0.135 0.148363 0.2674 0.0754 0.3012 0.0061 0.1851 0.27 0.08 0.28 0.01 0.312 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.605863 NA NA 0.252733 0.055379 NA 0.08 NA 3.167867 1343 12 108127965 108127965 A G UTR3 PRDM4 NM_012406:c.*22T>C NA NA UTR3 ENSG00000110851 ENST00000228437:c.*22T>C NA NA NA NA 12q23.3 NA NA NA NA rs17306603 0.22 0.22 NA 0.220447 0.4175 0.12 0.2608 0.0227 0.3599 0.4 0.11 0.26 0.04 0.3404 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.809301 NA NA 0.407674 0.081026 NA 0.188 NA 3.1677594 1343 2 112754720 112754720 A C intronic MERTK NA NA NA intronic ENSG00000153208 NA NA NA NA NA 2q13 NA NA NA NA rs4848238 0.18 0.18 0.173 0.190296 0.2883 0.1696 0.1888 0.1029 0.2301 0.25 0.12 0.22 0.11 0.2489 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.114907 NA NA 0.295123 0.146857 NA 0.217 NA 3.167677 1343 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 1343 17 10205047 10205047 C G intronic MYH13 NA NA NA intronic ENSG00000006788 NA NA NA NA NA 17p13.1 NA NA NA NA rs62060457 0.31 0.31 0.286 0.304712 0.2853 0.1895 0.366 0.4213 0.2423 0.26 0.22 0.37 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 0.677748 NA NA 0.266768 0.390233 NA 0.268 NA 3.167232 1343 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 1343 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 1343 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 1343 3 52853340 52853340 G C intronic ITIH4 NA NA NA UTR3 ENSG00000243696 ENST00000468472:c.*2660C>G NA NA NA NA 3p21.1 NA NA NA NA rs7620907 1 1 1 0.9998 1 0.999 1 1 1 1 1 1 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 -0.454416 NA NA NA NA NA 0.964 NA 3.1666667 1343 3 21462787 21462787 G A exonic ZNF385D NA synonymous SNV ZNF385D:NM_024697:exon8:c.C1107T:p.S369S exonic ENSG00000151789 NA synonymous SNV ENSG00000151789:ENST00000281523:exon8:c.C1107T:p.S369S NA NA 3p24.3 NA NA NA NA rs427233 0.93 0.93 0.93 0.915735 0.8141 0.999 0.9352 0.9818 0.8313 0.82 1 0.95 0.98 0.8557 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.45716 NA NA 0.830465 0.954834 NA 0.152 NA 3.1664016 1343 X 138067202 138067202 A G intronic FGF13 NA NA NA exonic ENSG00000129682 NA synonymous SNV ENSG00000129682:ENST00000455663:exon2:c.T45C:p.S15S NA NA Xq27.1 NA NA NA NA rs34825181 0.71 0.71 0.70588 NA NA NA NA NA NA 0.87 0.79 0.7 0.38 0.8049 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 -0.144233 NA NA 0.862214 0.470381 NA 0.457 NA 3.1662193 1343 3 64667059 64667059 G T intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs73124286 0.25 0.25 0.235 0.248403 0.2674 0.4048 0.2248 0.1036 0.2802 0.27 0.35 0.25 0.11 0.2821 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.559723 1.559723 NA 0.284419 0.14503 NA 0.196 NA 3.166081 1343 10 95109737 95109737 G A intronic MYOF NA NA NA intronic ENSG00000138119 NA NA NA NA NA 10q23.33 NA NA NA NA rs2298158 0.42 0.42 0.417 0.462859 0.2376 0.8859 0.3631 0.2829 0.5726 0.22 0.88 0.31 0.27 0.353 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 0.35829 NA NA 0.243366 0.238466 NA 0.391 NA 3.166034 1343 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 1343 13 30098215 30098215 C T intronic SLC7A1 NA NA NA intronic ENSG00000139514 NA NA NA NA NA 13q12.3 NA NA NA NA rs2776957 0.58 0.58 0.568 0.552915 0.835 0.3403 0.6153 0.4107 0.6299 0.83 0.35 0.67 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 0.852558 NA NA NA NA NA 0.601 NA 3.165 1344 1 159558258 159558258 A G exonic APCS NA synonymous SNV APCS:NM_001639:exon2:c.A432G:p.V144V exonic ENSG00000132703 NA synonymous SNV ENSG00000132703:ENST00000255040:exon2:c.A432G:p.V144V NA NA 1q23.2 NA NA NA NA rs2808661 0.92 0.92 0.922 0.900359 0.839 0.9921 0.9063 0.9834 0.7526 0.84 0.99 0.89 0.98 0.8462 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 -1.19358 NA NA 0.816977 0.963686 NA 0.754 NA 3.1644896 1344 12 7360229 7360229 C G intronic PEX5 NA NA NA intronic ENSG00000139197 NA NA NA NA NA 12p13.31 NA NA NA NA rs3816424 0.24 0.24 0.249 0.283546 0.2714 0.1548 0.1744 0.3616 0.4008 0.27 0.15 0.19 0.34 0.2801 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.996926 NA NA 0.284252 0.333182 NA 0.333 NA 3.164248 1344 14 96707457 96707457 A G exonic BDKRB2 NA synonymous SNV BDKRB2:NM_000623:exon3:c.A792G:p.T264T exonic ENSG00000168398 NA synonymous SNV ENSG00000168398:ENST00000306005:exon3:c.A792G:p.T264T,ENSG00000168398:ENST00000542454:exon3:c.A711G:p.T237T,ENSG00000168398:ENST00000554311:exon3:c.A792G:p.T264T,ENSG00000168398:ENST00000539359:exon4:c.A711G:p.T237T NA NA 14q32.2 NA NA NA NA rs5224 0.87 0.87 0.881 0.859026 0.832 0.8194 0.9063 0.9947 0.7106 0.82 0.81 0.9 0.99 0.8332 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 -1.313778 NA NA 0.837442 0.970495 NA 0.841 NA 3.1640246 1344 14 106092383 106092383 C G intergenic TMEM121,ELK2AP dist=95844;dist=43531 NA NA exonic ENSG00000211892 NA synonymous SNV ENSG00000211892:ENST00000390543:exon1:c.G21C:p.S7S NA NA 14q32.33 NA NA NA NA rs12434110 0.52 0.52 0.409 0.492212 0.6163 0.4534 0.6916 0.1445 0.7331 0.64 0.56 0.66 0.16 0.7197 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 0.430675 NA NA NA NA NA NA NA 3.164 1344 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 1344 11 32410774 32410774 A G intronic WT1 NA NA NA intronic ENSG00000184937 NA NA NA NA NA 11p13 NA NA NA NA rs1799937 0.46 0.46 0.457 0.507987 0.2584 0.7202 0.3775 0.5855 0.5337 0.26 0.72 0.36 0.53 0.3466 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.659346 NA NA 0.231449 0.534287 NA 0.536 NA 3.163551 1344 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 1344 12 21689882 21689882 T A UTR3 GYS2 NM_021957:c.*6A>T NA NA UTR3 ENSG00000111713 ENST00000261195:c.*6A>T NA NA NA NA 12p12.1 NA NA NA NA rs10431213 0.37 0.37 0.339 0.374601 0.3797 0.506 0.5216 0.0507 0.5675 0.41 0.53 0.49 0.06 0.409 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.598015 1.598015 NA 0.381395 0.109396 NA 0.225 NA 3.1632384 1344 X 69749852 69749852 A G intronic TEX11 NA NA NA intronic ENSG00000120498 NA NA NA Score=325;Name=lod=28 NA Xq13.1 NA NA NA NA rs1536250 0.8 0.8 NA NA NA NA NA NA NA 0.84 0.82 0.88 0.68 0.9334 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 -0.411937 NA NA 0.903389 0.700913 NA NA NA 3.163211 1344 16 84208335 84208335 G T intronic DNAAF1 NA NA NA UTR3 ENSG00000154099 ENST00000563093:c.*260G>T NA NA NA NA 16q24.1 NA NA NA NA rs3826151 0.29 0.29 0.283 0.261981 0.333 0.3681 0.4063 0.0582 0.2526 0.34 0.41 0.35 0.07 0.3284 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.212869 NA NA 0.342442 0.1075 ID=COSM148128;OCCURENCE=1(stomach) 0.217 NA 3.1628247 1344 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 1344 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 1344 X 118514072 118514072 A G intergenic PGRMC1,SLC25A43 dist=135643;dist=19186 NA NA ncRNA_intronic ENSG00000226661 NA NA NA NA NA Xq24 NA NA NA NA rs217941 0.44 0.44 0.47933 NA NA NA NA NA NA 0.37 0.36 0.31 0.76 0.4502 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 -0.190425 NA NA 0.387315 0.753879 NA 0.355 NA 3.162485 1344 1 86453237 86453237 T G intronic COL24A1 NA NA NA intronic ENSG00000171502 NA NA NA NA NA 1p22.3 NA NA NA NA rs11799965 0.27 0.27 0.26 0.219649 0.3002 0.2212 0.3847 0.1755 0.0777 0.29 0.23 0.35 0.21 0.2541 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.332774 NA NA 0.283305 0.215274 NA 0.304 NA 3.162395 1344 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 1344 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 1344 5 55058992 55058992 C A intronic DDX4 NA NA NA intronic ENSG00000152670 NA NA NA NA NA 5q11.2 NA NA NA NA rs3761776 0.41 0.41 0.407 0.412141 0.2565 0.4802 0.3329 0.615 0.2843 0.27 0.47 0.3 0.64 0.3146 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.557863 NA NA 0.267674 0.55654 NA 0.449 NA 3.161226 1344 22 22724394 22724394 T C intergenic LOC96610,ZNF280B dist=47070;dist=114378 NA NA exonic ENSG00000211649 NA nonsynonymous SNV ENSG00000211649:ENST00000390295:exon2:c.T290C:p.L97S NA NA 22q11.22 NA Name=eGFP-GATA2 NA NA rs7292000 0.92 0.92 0.913 0.913738 0.8897 0.8978 0.9078 0.9781 0.8722 0.89 0.91 0.92 0.97 0.8902 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 -1.687438 NA 0.74 0.892276 0.962357 NA 0.862 NA 3.1611574 1344 14 103596488 103596488 G A intronic TNFAIP2 NA NA NA intronic ENSG00000185215 NA NA NA NA NA 14q32.32 NA Name=Pol2 NA NA rs2234131 0.55 0.55 0.521 0.551917 0.6183 0.6488 0.5648 0.3442 0.6554 0.6 0.62 0.57 0.37 0.593 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.729651 NA NA 0.627558 0.385157 NA 0.594 NA 3.161142 1344 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 1344 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 1344 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 1344 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 1344 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 1344 19 46857257 46857257 G A intronic PPP5C NA NA NA intronic ENSG00000011485 NA NA NA NA NA 19q13.32 NA NA NA NA rs41275764 0.16 0.16 0.157 0.131789 0.3022 0.0367 0.1916 0.0461 0.1278 0.29 0.04 0.23 0.04 0.2444 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.071679 NA NA 0.293994 0.102727 NA 0.152 NA 3.159406 1344 1 11708736 11708736 T C UTR3 FBXO2 NM_012168:c.*15A>G NA NA UTR3 ENSG00000116661 ENST00000354287:c.*15A>G NA NA NA NA 1p36.22 NA Name=CTCF NA NA rs1055547 0.55 0.55 0.513 0.504992 0.7783 0.4077 0.6196 0.348 0.455 0.78 0.39 0.62 0.32 0.6481 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 1.451475 1.451475 NA 0.747731 0.39555 NA 0.457 NA 3.1592024 1344 X 69749853 69749853 T A intronic TEX11 NA NA NA intronic ENSG00000120498 NA NA NA Score=325;Name=lod=28 NA Xq13.1 NA NA NA NA rs1536251 0.82 0.82 NA NA NA NA NA NA NA 0.85 0.83 0.89 0.72 0.9332 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 -0.006358 NA NA 0.907699 0.701695 NA NA NA 3.159101 1344 19 43999634 43999634 A C intronic PHLDB3 NA NA NA intronic ENSG00000176531 NA NA NA NA NA 19q13.31 NA Name=ZEB1_(SC-25388) NA NA rs1125030 0.64 0.64 0.632 0.642971 0.6014 0.6379 0.4928 0.7239 0.6881 0.61 0.64 0.52 0.76 0.6322 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 -0.36216 NA NA 0.607468 0.693182 NA 0.667 NA 3.158932 1344 2 208477956 208477956 C T exonic METTL21A NA synonymous SNV METTL21A:NM_001127395:exon4:c.G471A:p.Q157Q,METTL21A:NM_145280:exon4:c.G471A:p.Q157Q exonic ENSG00000144401 NA synonymous SNV ENSG00000144401:ENST00000426075:exon3:c.G471A:p.Q157Q,ENSG00000144401:ENST00000272839:exon4:c.G525A:p.Q175Q,ENSG00000144401:ENST00000406927:exon4:c.G471A:p.Q157Q,ENSG00000144401:ENST00000411432:exon4:c.G471A:p.Q157Q,ENSG00000144401:ENST00000442521:exon4:c.G471A:p.Q157Q,ENSG00000144401:ENST00000448007:exon4:c.G471A:p.Q157Q NA NA 2q33.3 NA NA NA NA rs2709416 0.89 0.89 0.906 0.904153 0.831 0.998 0.879 0.8646 0.954 0.82 1 0.86 0.88 0.8597 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.754502 NA NA 0.817093 0.868361 NA 0.949 NA 3.1588736 1344 21 19666901 19666901 T A intronic TMPRSS15 NA NA NA intronic ENSG00000154646 NA NA NA NA NA 21q21.1 NA NA NA NA rs1540000 0.25 0.25 0.254 0.285343 0.2893 0.0913 0.1988 0.4297 0.3476 0.28 0.1 0.23 0.4 0.2699 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.564806 NA NA 0.282042 0.404448 ID=COSN166622;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.268 NA 3.158758 1344 14 30066976 30066976 A T ncRNA_intronic MIR548AI NA NA NA intronic ENSG00000184304 NA NA NA NA NA 14q12 NA NA NA NA rs3783299 0.38 0.38 0.386 0.430711 0.3807 0.2113 0.4179 0.5666 0.5337 0.37 0.23 0.4 0.56 0.417 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.818612 NA NA 0.377209 0.534498 NA 0.514 NA 3.1584243 1344 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 1344 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 1344 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 1344 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 1344 18 34205385 34205385 A G intronic FHOD3 NA NA NA intronic ENSG00000134775 NA NA NA NA NA 18q12.2 NA NA NA NA rs2644253 0.84 0.84 0.816 0.842053 0.8429 0.998 0.879 0.6097 0.9683 0.85 1 0.86 0.61 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 -0.783621 NA NA NA NA NA 0.812 NA 3.1571 1344 10 5781969 5781969 A T exonic FAM208B NA synonymous SNV FAM208B:NM_017782:exon13:c.A1836T:p.T612T exonic ENSG00000108021 NA synonymous SNV ENSG00000108021:ENST00000328090:exon13:c.A1836T:p.T612T NA NA 10p15.1 NA NA NA NA rs2797486 0.85 0.85 0.847 0.837061 0.841 0.8135 0.8804 0.8865 0.7597 0.84 0.81 0.86 0.89 0.8364 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 -1.147596 NA NA 0.832202 0.871618 NA 0.819 NA 3.1570646 1344 15 85188994 85188994 T C exonic WDR73 NA synonymous SNV WDR73:NM_032856:exon7:c.A591G:p.S197S exonic ENSG00000177082 NA synonymous SNV ENSG00000177082:ENST00000434634:exon7:c.A591G:p.S197S NA NA 15q25.2 NA NA NA NA rs2271432 0.9 0.9 0.909 0.895367 0.8191 0.9494 0.8934 0.9909 0.7904 0.83 0.95 0.88 0.98 0.855 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 -0.739151 NA NA 0.835753 0.96798 NA 0.935 NA 3.1568136 1344 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 1344 19 17362526 17362526 A G intronic USHBP1 NA NA NA intronic ENSG00000130307,ENSG00000269095 NA NA NA NA NA 19p13.11 NA NA Name=3 NA rs10469471 0.72 0.72 0.712 0.73762 0.5795 0.7966 0.755 0.8298 0.7025 0.58 0.8 0.75 0.84 0.6627 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 -0.869365 NA NA 0.601744 0.794371 NA 0.804 NA 3.156056 1344 16 816294 816294 T G intronic MSLN NA NA NA intronic ENSG00000102854 NA NA NA NA NA 16p13.3 NA NA NA NA rs3765322 0.44 0.44 0.429 0.492612 0.2376 0.4008 0.3631 0.8601 0.4448 0.24 0.42 0.33 0.85 0.3412 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 0.201676 NA NA 0.265749 0.760265 NA 0.449 NA 3.155451 1344 10 105206874 105206874 T C UTR3 CALHM2 NM_015916:c.*35A>G NA NA UTR3 ENSG00000138172 ENST00000369788:c.*35A>G,ENST00000260743:c.*35A>G NA NA NA NA 10q24.33 NA NA NA NA rs6580 0.32 0.32 0.317 0.352436 0.4135 0.3591 0.3646 0.1536 0.5429 0.41 0.34 0.34 0.15 0.3792 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.110809 NA NA 0.385233 0.191557 NA 0.254 NA 3.1554004 1344 10 104241683 104241683 G T intronic ACTR1A NA NA NA intronic ENSG00000138107 NA NA NA NA NA 10q24.32 NA NA NA NA rs2296580 0.2 0.2 0.177 0.207468 0.2982 0.1339 0.1787 0.121 0.3272 0.29 0.13 0.23 0.11 0.252 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.841441 NA NA 0.294419 0.135951 NA 0.261 NA 3.155381 1345 10 104250278 104250278 A G intronic ACTR1A NA NA NA intronic ENSG00000138107 NA NA NA NA NA 10q24.32 NA NA NA NA rs17709610 0.2 0.2 0.171 0.207668 0.2982 0.1339 0.1772 0.1225 0.3272 0.29 0.13 0.23 0.11 0.2526 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.411727 1.411727 NA 0.294651 0.136859 NA 0.261 NA 3.154549 1345 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 1345 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 1345 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 1345 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 1345 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 1345 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 1345 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 1345 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 1345 16 81167314 81167314 G A intronic PKD1L2 NA NA NA intronic ENSG00000166473 NA NA NA NA NA 16q23.2 NA NA NA NA rs3826050 0.32 0.32 0.283 0.292133 0.3032 0.379 0.4164 0.2088 0.2157 0.29 0.37 0.41 0.22 0.2832 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.654695 1.654695 NA 0.261967 0.202511 NA 0.21 NA 3.151633 1345 4 84515968 84515968 C T intronic AGPAT9 NA NA NA intronic ENSG00000138678 NA NA NA NA NA 4q21.23 NA NA NA NA rs3733327 0.22 0.22 0.2 0.236222 0.2873 0.3085 0.2896 0.0295 0.3507 0.28 0.28 0.3 0.03 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 0.640749 NA NA 0.287791 0.07626 NA 0.246 NA 3.151609 1345 2 192250568 192250568 T C intronic MYO1B NA NA NA intronic ENSG00000128641 NA NA NA NA NA 2q32.3 NA Name=c-Fos,c-Jun,GATA-2 Name=41 NA rs13026888 0.81 0.81 0.796 0.784744 0.9642 0.9405 0.8444 0.3828 0.9407 0.97 0.93 0.86 0.41 0.9127 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 1.696403 1.696403 NA 0.971512 0.480935 NA 0.717 NA 3.151588 1345 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 1345 7 100281768 100281768 T C exonic GIGYF1 NA synonymous SNV GIGYF1:NM_022574:exon15:c.A1743G:p.P581P exonic ENSG00000146830 NA synonymous SNV ENSG00000146830:ENST00000275732:exon15:c.A1743G:p.P581P NA NA 7q22.1 NA NA NA NA rs221794 0.88 0.88 0.847 0.861621 0.8231 0.9206 0.902 0.8812 0.7853 0.82 0.95 0.9 0.87 0.8459 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 -0.967182 NA NA 0.846476 0.874318 ID=COSM451988,COSM451987;OCCURENCE=1(breast) 0.804 NA 3.1511906 1345 1 146728149 146728149 A G intronic CHD1L NA NA NA intronic ENSG00000131778 NA NA NA NA NA 1q21.1 NA NA NA NA rs12119390 0.19 0.19 0.178 0.203474 0.2644 0.1339 0.2666 0.1422 0.2505 0.26 0.1 0.26 0.14 0.2917 0.29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.02382 NA NA 0.292975 0.165758 NA 0.203 NA 3.150925 1345 1 208062471 208062471 A C intronic CD34 NA NA NA intronic ENSG00000174059 NA NA NA NA NA 1q32.2 NA NA NA NA rs2073070 0.26 0.26 0.225 0.278954 0.2773 0.3145 0.3501 0.1551 0.3609 0.28 0.32 0.33 0.12 0.2924 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17808 NA NA 0.279419 0.182705 NA 0.188 NA 3.150881 1345 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 1345 1 169985796 169985796 A G intronic KIFAP3 NA NA NA intronic ENSG00000075945 NA NA NA NA NA 1q24.2 NA NA NA NA rs16862933 0.28 0.28 0.257 0.232428 0.2952 0.4841 0.2723 0.0106 0.18 0.29 0.48 0.28 0.01 0.2658 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295415 NA NA 0.288672 0.055833 NA 0.225 NA 3.150328 1345 3 58089851 58089851 G A intronic FLNB NA NA NA intronic ENSG00000136068 NA NA NA NA NA 3p14.3 NA NA NA NA rs1522385 0.15 0.15 0.147 0.122804 0.2903 0.0198 0.1758 0.0378 0.1339 0.3 0.02 0.21 0.05 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 1.811275 1.811275 NA 0.324651 0.078075 NA 0.297 NA 3.150149 1345 7 135311167 135311167 G A intronic NUP205 NA NA NA intronic ENSG00000155561 NA NA NA NA NA 7q33 NA NA NA NA rs10234309 0.72 0.72 NA 0.738419 0.8499 0.5119 0.6239 0.8026 0.8517 0.85 0.49 0.69 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 -0.218477 NA NA NA NA NA 0.703 NA 3.1501 1345 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 1345 14 60574539 60574539 A G intronic PCNXL4 NA NA NA exonic ENSG00000126773 NA synonymous SNV ENSG00000126773:ENST00000404681:exon1:c.A183G:p.L61L,ENSG00000126773:ENST00000391611:exon2:c.A183G:p.L61L,ENSG00000126773:ENST00000406854:exon2:c.A183G:p.L61L Score=414;Name=lod=64 NA 14q23.1 NA NA NA NA rs12465 0.88 0.88 0.877 0.821286 0.9026 0.8938 0.8963 0.7466 0.7106 0.91 0.92 0.89 0.79 0.8744 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 -1.018043 NA NA 0.907082 0.782534 NA 0.87 NA 3.1492513 1345 2 10044951 10044951 A G intronic TAF1B NA NA NA intronic ENSG00000115750 NA NA NA NA NA 2p25.1 NA NA NA NA rs2052948 0.35 0.35 0.337 0.360224 0.2773 0.38 0.3948 0.4221 0.317 0.29 0.34 0.35 0.45 0.3113 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.756369 NA NA 0.262226 0.383668 NA 0.203 NA 3.149174 1345 4 120481431 120481431 T C intronic PDE5A NA NA NA intronic ENSG00000138735 NA NA NA NA NA 4q26 NA NA NA NA rs34308924 0.3 0.3 0.302 0.270567 0.2863 0.3929 0.2882 0.2292 0.1718 0.29 0.4 0.26 0.23 0.2779 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.257197 NA NA 0.286645 0.231729 ID=COSN167320;OCCURENCE=1(large_intestine),2(endometrium) 0.225 NA 3.149155 1345 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 1345 10 5139685 5139685 G A exonic AKR1C3 NA synonymous SNV AKR1C3:NM_001253908:exon3:c.G312A:p.K104K,AKR1C3:NM_001253909:exon3:c.G312A:p.K104K,AKR1C3:NM_003739:exon3:c.G312A:p.K104K exonic ENSG00000196139 NA synonymous SNV ENSG00000196139:ENST00000380554:exon3:c.G312A:p.K104K,ENSG00000196139:ENST00000605149:exon3:c.G243A:p.K81K,ENSG00000196139:ENST00000602997:exon4:c.G243A:p.K81K NA NA 10p15.1 NA NA NA NA rs12387 0.87 0.87 0.876 0.848243 0.8519 0.8621 0.8084 0.8737 0.8241 0.84 0.87 0.85 0.92 0.8362 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 -1.796923 NA NA 0.829767 0.869042 NA 0.841 NA 3.1487996 1345 1 93581024 93581024 T C intronic MTF2 NA NA NA intronic ENSG00000143033 NA NA NA Score=461;Name=lod=100 NA 1p22.1 NA NA NA NA rs2295423 0.52 0.52 0.467 0.497604 0.6322 0.6409 0.5893 0.0915 0.6953 0.64 0.65 0.6 0.11 0.5919 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.184499 NA NA 0.627558 0.189968 NA 0.435 NA 3.148342 1345 1 207297680 207297680 T C exonic C4BPA NA synonymous SNV C4BPA:NM_000715:exon6:c.T675C:p.G225G exonic ENSG00000123838 NA synonymous SNV ENSG00000123838:ENST00000367070:exon6:c.T675C:p.G225G NA NA 1q32.2 NA NA NA NA rs1126618 0.85 0.85 0.85 0.857827 0.829 0.7639 0.8646 0.9198 0.8957 0.83 0.81 0.86 0.91 0.8545 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 -0.96153 NA NA 0.834884 0.911938 NA 0.877 NA 3.1482826 1345 11 128781339 128781339 T C exonic KCNJ5 NA synonymous SNV KCNJ5:NM_000890:exon2:c.T171C:p.S57S exonic ENSG00000120457 NA synonymous SNV ENSG00000120457:ENST00000533599:exon1:c.T171C:p.S57S,ENSG00000120457:ENST00000529694:exon2:c.T171C:p.S57S,ENSG00000120457:ENST00000338350:exon3:c.T171C:p.S57S NA NA 11q24.3 NA NA NA NA rs6590357 0.85 0.85 0.861 0.869808 0.8499 0.877 0.8026 0.8918 0.9008 0.85 0.87 0.81 0.87 0.8436 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 1.10895 NA NA 0.824994 0.893685 NA 0.739 NA 3.1481726 1345 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 1345 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 1345 11 129754627 129754627 G T intronic NFRKB NA NA NA intronic ENSG00000170322 NA NA NA NA NA 11q24.3 NA NA NA NA rs12574106 0.19 0.19 0.198 0.165335 0.2982 0.1429 0.2046 0.053 0.1759 0.31 0.15 0.22 0.05 0.2503 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.673786 NA NA 0.303817 0.08746 NA 0.29 NA 3.147683 1345 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 1345 11 92532677 92532677 T C exonic FAT3 NA synonymous SNV FAT3:NM_001008781:exon9:c.T6498C:p.P2166P exonic ENSG00000165323 NA synonymous SNV ENSG00000165323:ENST00000298047:exon9:c.T6498C:p.P2166P,ENSG00000165323:ENST00000409404:exon9:c.T6498C:p.P2166P,ENSG00000165323:ENST00000525166:exon9:c.T6048C:p.P2016P NA NA 11q14.3 NA NA NA NA rs12362722 0.82 0.82 0.802 0.799321 0.8509 0.755 0.8559 0.7738 0.7863 0.86 0.78 0.86 0.76 0.8272 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 -0.399535 NA NA 0.841469 0.796012 NA 0.87 NA 3.1470976 1345 15 90798953 90798953 C T intronic TTLL13 NA NA NA intronic ENSG00000213471,ENSG00000261147 NA NA NA NA NA 15q26.1 NA NA NA NA rs2063739 0.35 0.35 0.322 0.376997 0.2634 0.6925 0.4164 0.1097 0.502 0.26 0.64 0.36 0.13 0.3302 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419347 NA NA 0.260005 0.147112 NA 0.181 NA 3.146395 1345 10 102107251 102107251 C G UTR5 SCD NM_005063:c.-11C>G NA NA UTR5 ENSG00000099194 ENST00000370355:c.-11C>G NA NA NA NA 10q24.31 NA NA NA NA rs1054411 0.34 0.34 0.297 0.282748 0.3986 0.3591 0.5231 0.0802 0.1881 0.41 0.36 0.47 0.12 0.3712 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.379354 3.379354 NA 0.417733 0.129773 NA 0.261 NA 3.1458004 1345 1 86891179 86891179 T C intronic CLCA2 NA NA NA intronic ENSG00000137975 NA NA NA NA NA 1p22.3 NA NA NA NA rs2210641 0.31 0.31 0.327 0.317891 0.2664 0.4157 0.2435 0.298 0.3497 0.27 0.42 0.27 0.29 0.3059 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687744 NA NA 0.282507 0.314012 ID=COSN163148;OCCURENCE=1(breast) 0.239 NA 3.145193 1346 1 89523927 89523927 C T intronic GBP1 NA NA NA intronic ENSG00000117228 NA NA NA NA NA 1p22.2 NA NA NA NA rs60070945 0.25 0.25 0.26 0.249002 0.2992 0.12 0.2839 0.2496 0.3047 0.3 0.12 0.31 0.28 0.2681 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.255547 NA NA 0.287794 0.217213 NA 0.348 NA 3.144906 1346 1 85488030 85488030 G A exonic MCOLN3 NA synonymous SNV MCOLN3:NM_001253693:exon9:c.C981T:p.L327L,MCOLN3:NM_018298:exon10:c.C1149T:p.L383L exonic ENSG00000055732 NA synonymous SNV ENSG00000055732:ENST00000341115:exon9:c.C981T:p.L327L,ENSG00000055732:ENST00000370589:exon10:c.C1149T:p.L383L NA NA 1p22.3 NA NA NA NA rs2028304 0.79 0.79 0.817 0.796126 0.84 0.7331 0.7522 0.8298 0.8016 0.84 0.73 0.76 0.81 0.8234 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 0.817408 NA NA 0.858605 0.834544 NA 0.848 NA 3.1446616 1346 18 61390316 61390316 C A exonic SERPINB11 NA unknown UNKNOWN exonic ENSG00000206072 NA synonymous SNV ENSG00000206072:ENST00000538847:exon3:c.C256A:p.R86R,ENSG00000206072:ENST00000536691:exon7:c.C337A:p.R113R NA NA 18q21.33 NA NA NA NA rs1395265 0.75 0.75 0.744 0.722444 0.7416 0.8512 0.7277 0.6324 0.6881 0.76 0.84 0.75 0.66 0.7257 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 -1.495246 NA NA 0.721442 0.651218 NA 0.826 NA 3.1445913 1346 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 1346 1 43664119 43664119 A G intronic WDR65 NA NA NA intronic ENSG00000243710 NA NA NA NA NA 1p34.2 NA NA NA NA rs603560 0.22 0.22 0.216 0.200879 0.3181 0.002 0.2089 0.2829 0.1687 0.34 0.0017 0.23 0.26 0.2531 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057713 NA NA 0.284884 0.24966 NA 0.355 NA 3.143916 1346 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 1346 3 46539523 46539523 G A UTR5 RTP3 NM_031440:c.-30G>A NA NA UTR5 ENSG00000163825 ENST00000296142:c.-30G>A NA NA NA NA 3p21.31 NA NA NA NA rs2037391 0.4 0.4 0.379 0.405551 0.4006 0.4881 0.4323 0.3109 0.4346 0.41 0.47 0.42 0.29 0.4036 0.47 NA NA 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 0.385814 0.292329 NA 0.428 NA 3.1433194 1346 1 6609559 6609559 C A intronic NOL9 NA NA NA intronic ENSG00000162408 NA NA NA NA NA 1p36.31 NA NA NA NA rs11122091 0.74 0.74 NA 0.717652 0.8569 0.7937 0.8429 0.4107 0.8221 0.87 0.81 0.83 0.39 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 0.380274 NA NA NA NA NA 0.746 NA 3.1431 1346 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 1346 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 1346 6 32336495 32336495 T A intronic C6orf10 NA NA NA intronic ENSG00000204296 NA NA NA NA NA 6p21.32 NA NA NA NA rs3129938 0.86 0.86 0.847 0.861222 0.8579 0.9038 0.8804 0.7784 0.9192 0.86 0.92 0.88 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 0.177394 NA NA NA NA NA 0.848 NA 3.1421 1346 11 68566651 68566651 A T intronic CPT1A NA NA NA intronic ENSG00000110090 NA NA NA NA NA 11q13.3 NA NA NA NA rs61887064 NA NA NA 0.84345 0.8579 0.8869 0.8501 0.7481 0.908 NA NA NA NA 0.000008387 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.880017 NA NA NA NA NA NA NA 3.1420916 1346 15 90794845 90794845 G A intronic TTLL13 NA NA NA intronic ENSG00000213471,ENSG00000261147 NA NA NA NA NA 15q26.1 NA NA NA NA rs2882858 0.36 0.36 0.336 0.395168 0.2644 0.6885 0.4265 0.1808 0.4949 0.26 0.64 0.38 0.18 0.3327 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22793 NA NA 0.260819 0.189859 NA 0.203 NA 3.142081 1346 7 44612347 44612347 G C intronic DDX56 NA NA NA intronic ENSG00000136271 NA NA NA NA NA 7p13 NA Name=TR4 NA NA rs217374 0.76 0.76 0.792 0.766973 0.5915 0.8393 0.6441 0.9554 0.7055 0.59 0.87 0.65 0.96 0.6595 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 -0.909165 NA NA 0.606977 0.885611 NA 0.645 NA 3.142023 1346 1 64515379 64515379 C T exonic ROR1 NA synonymous SNV ROR1:NM_001083592:exon3:c.C180T:p.L60L,ROR1:NM_005012:exon3:c.C180T:p.L60L exonic ENSG00000185483 NA synonymous SNV ENSG00000185483:ENST00000371079:exon3:c.C180T:p.L60L,ENSG00000185483:ENST00000371080:exon3:c.C180T:p.L60L NA NA 1p31.3 NA NA NA NA rs1772626 0.81 0.81 0.808 0.778754 0.831 0.9415 0.8602 0.5545 0.8027 0.84 0.95 0.85 0.6 0.8384 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 -0.254248 NA NA 0.855581 0.631866 NA 0.768 NA 3.1416856 1346 4 755025 755025 G A intronic PCGF3 NA NA NA intronic ENSG00000185619 NA NA NA NA NA 4p16.3 NA NA NA NA rs2242233 0.2 0.2 0.18 0.201278 0.3111 0.2044 0.2378 0.056 0.2556 0.3 0.19 0.2 0.05 0.2526 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68159 NA NA 0.294714 0.086756 NA 0.174 NA 3.141586 1346 3 52853401 52853401 C T intronic ITIH4 NA NA NA UTR3 ENSG00000243696 ENST00000468472:c.*2599G>A NA NA NA NA 3p21.1 NA NA NA NA rs3821831 0.21 0.21 0.193 0.196486 0.3449 0.0863 0.2017 0.1498 0.2168 0.35 0.08 0.21 0.15 0.2961 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.942721 NA NA 0.384419 0.193827 NA 0.152 NA 3.1412477 1346 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 1346 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 1346 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 1346 1 22974297 22974297 C A UTR3 C1QC NM_172369:c.*21C>A,NM_001114101:c.*21C>A NA NA UTR3 ENSG00000159189 ENST00000374640:c.*21C>A,ENST00000374639:c.*21C>A,ENST00000374637:c.*21C>A NA NA NA NA 1p36.12 NA NA NA NA rs9434 0.57 0.57 0.581 0.58766 0.3827 0.622 0.4957 0.8896 0.4202 0.38 0.62 0.47 0.89 0.4438 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 0.993781 NA NA 0.367326 0.797095 NA 0.674 NA 3.1395074 1346 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 1346 1 55474325 55474325 A C UTR3 BSND NM_057176:c.*24A>C NA NA UTR3 ENSG00000162399 ENST00000371265:c.*24A>C NA NA NA NA 1p32.3 NA NA NA NA rs6682884 0.37 0.37 0.375 0.36242 0.3966 0.3343 0.2334 0.5242 0.229 0.41 0.28 0.22 0.53 0.3755 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.612942 NA NA 0.421977 0.494326 NA 0.377 NA 3.1392564 1346 14 74203690 74203690 G A intronic ELMSAN1 NA NA NA intronic ENSG00000156030 NA NA NA NA NA 14q24.3 NA NA NA NA rs8007548 0.15 0.15 0.136 0.110623 0.2893 0.003 0.255 0.0098 0.0716 0.3 NA 0.26 0.02 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 -0.375271 NA NA 0.320465 0.064231 NA 0.116 NA 3.139235 1346 16 53272216 53272216 A C intronic CHD9 NA NA NA intronic ENSG00000177200 NA NA NA NA NA 16q12.2 NA NA NA NA rs8049913 0.29 0.29 0.265 0.296126 0.2962 0.244 0.1873 0.357 0.3446 0.3 0.25 0.23 0.36 0.3048 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.188811 NA NA 0.260735 0.282778 NA 0.304 NA 3.138265 1346 5 78324482 78324482 T C intronic DMGDH NA NA NA intronic ENSG00000132837 NA NA NA NA NA 5q14.1 NA NA NA NA rs2303129 0.3 0.3 0.314 0.304113 0.2962 0.1399 0.1974 0.4917 0.3037 0.29 0.16 0.2 0.53 0.2798 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.911032 NA NA 0.286395 0.454153 NA 0.297 NA 3.137605 1346 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 1346 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 1346 16 84043380 84043380 A G downstream SLC38A8 NA NA NA downstream ENSG00000166558 NA NA NA NA NA 16q23.3 NA NA NA NA rs7196330 0.26 0.26 0.285 0.277356 0.1779 0.1528 0.2248 0.5772 0.1401 0.17 0.16 0.22 0.55 0.195 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.159641 NA NA 0.15686 0.528182 NA 0.362 NA 3.1369066 1346 5 61676902 61676902 G T intronic KIF2A NA NA NA intronic ENSG00000068796 NA NA NA NA NA 5q12.1 NA NA NA NA rs247253 0.54 0.54 NA 0.51857 0.4175 0.6468 0.4568 0.6543 0.3507 0.43 0.67 0.47 0.63 0.4457 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 0.736916 NA NA NA NA NA 0.493 NA 3.1368 1346 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 1346 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 1346 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 1346 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 1346 5 35037006 35037006 T C intronic AGXT2 NA NA NA intronic ENSG00000113492 NA NA NA NA NA 5p13.2 NA Name=GATA-2 NA NA rs171081 0.48 0.48 0.468 0.473043 0.659 0.2758 0.4683 0.4546 0.5133 0.66 0.24 0.54 0.41 0.5693 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 -0.757108 NA NA 0.635233 0.458693 ID=COSN167432;OCCURENCE=1(large_intestine) 0.435 NA 3.136467 1346 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 1346 3 129290187 129290187 T C intronic PLXND1 NA NA NA intronic ENSG00000004399 NA NA NA NA NA 3q22.1 NA NA NA NA rs2285367 0.29 0.29 0.281 0.274161 0.3091 0.4087 0.2305 0.2231 0.1994 0.31 0.36 0.24 0.21 0.2813 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.515827 NA NA 0.273952 0.219843 NA 0.37 NA 3.135648 1346 22 50658053 50658053 A G intronic TUBGCP6 NA NA NA intronic ENSG00000128159 NA NA NA NA NA 22q13.33 NA Name=Mxi1_(bHLH),Max,c-Myc,CCNT2,E2F6,USF2,USF-1,USF1_(SC-8983),ATF3 Name=127 NA rs6537642 0.98 0.98 0.98 0.982428 0.9533 0.999 0.9568 0.9992 0.9908 0.95 1 0.95 1 0.966 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154866 NA NA 0.945349 0.987063 NA 0.659 NA 3.135351 1347 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 1347 21 38865507 38865507 C G intronic DYRK1A NA NA NA intronic ENSG00000157540 NA NA NA NA NA 21q22.13 NA NA NA NA rs2835772 0.3 0.3 0.298 0.350439 0.2704 0.369 0.3112 0.354 0.4366 0.26 0.34 0.3 0.29 0.31 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.4648 NA NA 0.284767 0.34158 NA 0.435 NA 3.134833 1347 14 88658764 88658764 G C intronic KCNK10 NA NA NA intronic ENSG00000100433 NA NA NA NA NA 14q31.3 NA NA NA NA rs12898054 0.16 0.16 0.137 0.125599 0.327 0.0109 0.2219 0.0189 0.1125 0.34 0.02 0.22 0.03 0.2361 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.576955 NA NA 0.302093 0.072174 NA 0.145 NA 3.134807 1347 3 10142949 10142949 C T UTR3 FANCD2 NM_001018115:c.*3C>T NA NA UTR3 ENSG00000144554 ENST00000383806:c.*515C>T,ENST00000383807:c.*3C>T,ENST00000419585:c.*3C>T,ENST00000421731:c.*515C>T NA NA NA NA 3p25.3 NA NA NA NA rs3172417 0.24 0.24 0.199 0.214657 0.4513 0.1657 0.245 0.0363 0.2413 0.43 0.14 0.26 0.03 0.3281 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.714405 NA NA 0.419651 0.087835 ID=COSN166813;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.167 NA 3.1342824 1347 11 125647712 125647712 T C intronic PATE2 NA NA NA intronic ENSG00000196844 NA NA NA NA NA 11q24.2 NA NA NA NA rs522690 0.9 0.9 0.89 0.887979 0.8658 0.997 0.9179 0.7995 0.8967 0.87 1 0.93 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 -0.94675 NA NA NA NA NA 0.884 NA 3.1342 1347 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 1347 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 1347 19 55263802 55263802 C G intronic KIR2DL3 NA NA NA ncRNA_intronic ENSG00000215765 NA NA NA NA NA 19q13.42 NA NA NA NA rs35100980 0.32 0.32 0.267 0.269768 0.4135 0.13 0.219 0.3222 0.2311 0.46 0.12 0.31 0.33 0.352 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.566726 NA NA 0.434187 0.34802 NA 0.014 NA 3.1336463 1347 2 27667297 27667297 A G UTR3 IFT172 NM_015662:c.*2T>C NA NA UTR3 ENSG00000138002 ENST00000260570:c.*2T>C,ENST00000509128:c.*697T>C NA NA NA NA 2p23.3 NA NA NA NA rs4803 0.4 0.4 0.383 0.454073 0.3748 0.1667 0.4827 0.7322 0.4356 0.38 0.14 0.42 0.71 0.4403 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.708771 NA NA 0.384651 0.663414 NA 0.609 NA 3.1335824 1347 2 171702480 171702480 C T intronic GAD1 NA NA NA intronic ENSG00000128683 NA NA NA NA NA 2q31.1 NA NA NA NA rs701492 0.27 0.27 0.26 0.292931 0.2903 0.2669 0.2925 0.2466 0.3855 0.3 0.27 0.25 0.26 0.296 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.398974 NA NA 0.280233 0.262835 NA 0.312 NA 3.133467 1347 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 1347 17 39595116 39595116 G T intronic KRT38 NA NA NA intronic ENSG00000171360 NA NA NA NA NA 17q21.2 NA NA NA NA rs9894668 0.2 0.2 0.176 0.21905 0.2833 0.0843 0.2161 0.1498 0.3875 0.27 0.09 0.27 0.16 0.2752 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.918836 NA NA 0.308721 0.167726 NA 0.239 NA 3.132779 1347 4 5617295 5617295 T C intronic EVC2 NA NA NA intronic ENSG00000173040 NA NA NA NA NA 4p16.2 NA NA NA NA rs10025164 0.43 0.43 0.425 0.426118 0.2485 0.6121 0.3718 0.5605 0.274 0.26 0.58 0.36 0.56 0.3432 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.036328 NA NA 0.275581 0.519292 NA 0.377 NA 3.132719 1347 7 150765065 150765065 T C exonic SLC4A2 NA synonymous SNV SLC4A2:NM_001199693:exon7:c.T1044C:p.T348T,SLC4A2:NM_001199694:exon7:c.T1029C:p.T343T,SLC4A2:NM_001199692:exon8:c.T1071C:p.T357T,SLC4A2:NM_003040:exon8:c.T1071C:p.T357T exonic ENSG00000164889 NA synonymous SNV ENSG00000164889:ENST00000392826:exon7:c.T1044C:p.T348T,ENSG00000164889:ENST00000461735:exon7:c.T1029C:p.T343T,ENSG00000164889:ENST00000310317:exon8:c.T825C:p.T275T,ENSG00000164889:ENST00000413384:exon8:c.T1071C:p.T357T,ENSG00000164889:ENST00000485713:exon8:c.T1071C:p.T357T NA NA 7q36.1 NA NA NA NA rs2229550 0.9 0.9 0.885 0.895966 0.8419 0.9454 0.8991 0.9546 0.819 0.85 0.95 0.88 0.93 0.866 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 0.746712 NA NA 0.826163 0.921017 NA 0.928 NA 3.1326036 1347 10 115618246 115618246 T C intronic NHLRC2 NA NA NA intronic ENSG00000196865 NA NA NA NA NA 10q25.3 NA NA NA NA rs2301180 0.24 0.24 0.21 0.223642 0.2922 0.3145 0.2305 0.1195 0.1953 0.28 0.31 0.2 0.12 0.298 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.014411 NA NA 0.277206 0.15103 NA 0.203 NA 3.132594 1347 17 36059246 36059246 A C intronic HNF1B NA NA NA intronic ENSG00000108753 NA NA NA NA NA 17q12 NA NA NA NA rs2269842 0.34 0.34 0.341 0.344848 0.2922 0.2639 0.3084 0.5371 0.2485 0.28 0.26 0.34 0.55 0.292 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.097906 NA NA 0.283488 0.473899 NA 0.319 NA 3.132312 1347 3 111983197 111983197 C T intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA Score=395;Name=lod=54 NA 3q13.2 NA NA NA NA rs6788397 0.64 0.64 0.612 0.643171 0.5964 0.7738 0.7118 0.4849 0.7219 0.61 0.8 0.67 0.5 0.6524 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 -0.021088 NA NA 0.61973 0.509368 NA 0.572 NA 3.13147 1347 1 8390246 8390246 T C intronic SLC45A1 NA NA NA intronic ENSG00000162426 NA NA NA NA NA 1p36.23 NA NA NA NA rs12565834 0.32 0.32 0.313 0.328474 0.2932 0.1845 0.2622 0.5507 0.2597 0.28 0.17 0.3 0.54 0.2893 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.259011 NA NA 0.286047 0.503177 NA 0.326 NA 3.131453 1347 3 151056598 151056598 A C exonic P2RY12 NA synonymous SNV P2RY12:NM_176876:exon2:c.T36G:p.G12G,P2RY12:NM_022788:exon3:c.T36G:p.G12G exonic ENSG00000169313 NA synonymous SNV ENSG00000169313:ENST00000302632:exon3:c.T36G:p.G12G NA NA 3q25.1 NA NA NA NA rs6809699 0.89 0.89 0.909 0.911542 0.829 0.8988 0.915 0.9932 0.8967 0.83 0.87 0.91 0.99 0.8703 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 0.27032 NA NA 0.83593 0.962551 NA 0.855 NA 3.1314366 1347 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 1347 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 1347 1 3395039 3395039 G A exonic ARHGEF16 NA synonymous SNV ARHGEF16:NM_014448:exon12:c.G1677A:p.V559V exonic ENSG00000130762 NA synonymous SNV ENSG00000130762:ENST00000413250:exon7:c.G789A:p.V263V,ENSG00000130762:ENST00000378371:exon9:c.G813A:p.V271V,ENSG00000130762:ENST00000378373:exon10:c.G813A:p.V271V,ENSG00000130762:ENST00000378378:exon12:c.G1677A:p.V559V NA NA 1p36.32 NA NA NA NA rs10797395 0.69 0.69 0.653 0.686102 0.8628 0.6766 0.7637 0.3873 0.863 0.88 0.69 0.73 0.38 0.8037 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 -0.919361 NA NA 0.869053 0.471351 NA 0.558 NA 3.1311136 1347 2 73455747 73455747 C T intronic PRADC1 NA NA NA intronic ENSG00000135617 NA NA NA NA NA 2p13.2 NA NA NA NA rs2288631 0.28 0.28 0.262 0.246805 0.2982 0.3681 0.2911 0.1104 0.2219 0.27 0.4 0.33 0.11 0.2714 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.380876 NA NA 0.299419 0.15025 ID=COSN166140;OCCURENCE=1(NS) 0.355 NA 3.130981 1347 19 7975464 7975464 A C intronic MAP2K7 NA NA NA intronic ENSG00000076984 NA NA NA NA NA 19p13.2 NA NA NA NA rs11879199 0.21 0.21 0.179 0.188898 0.3022 0.1419 0.1945 0.1437 0.1779 0.3 0.13 0.2 0.17 0.2586 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.720815 NA NA 0.30828 0.170292 NA 0.217 NA 3.13092 1347 2 128411934 128411934 A G intronic LIMS2 NA NA NA intronic ENSG00000072163 NA NA NA NA NA 2q14.3 NA NA NA NA rs6707277 0.88 0.88 0.875 0.874601 0.8698 0.9881 0.8919 0.7806 0.8773 0.86 0.98 0.89 0.8 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 -0.619288 NA NA NA NA NA 0.884 NA 3.1302 1347 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 1347 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 1347 6 149953835 149953835 A G intronic KATNA1 NA NA NA intronic ENSG00000186625 NA NA NA NA NA 6q25.1 NA NA NA NA rs9322202 0.91 0.91 0.9 0.910144 0.8708 0.9415 0.9049 0.9955 0.8067 0.86 0.91 0.9 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 -0.047937 NA NA NA NA NA 0.935 NA 3.1292 1347 14 59965429 59965429 T C intronic JKAMP NA NA NA ncRNA_intronic ENSG00000258782 NA NA NA NA NA 14q23.1 NA NA NA NA rs1271507 0.39 0.39 0.419 0.452676 0.3588 0.1845 0.4914 0.7284 0.4254 0.34 0.17 0.46 0.68 0.4952 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419824 NA NA 0.350382 0.6555 NA 0.5 NA 3.1289513 1347 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 1347 17 80622344 80622344 G A intronic RAB40B NA NA NA intronic ENSG00000141542 NA NA NA NA NA 17q25.3 NA NA NA NA rs2279392 0.29 0.29 0.294 0.266773 0.2922 0.3373 0.2536 0.2337 0.2219 0.29 0.34 0.28 0.23 0.2871 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.58828 NA NA 0.292045 0.235361 NA 0.152 NA 3.128655 1347 9 35809328 35809328 A G intronic NPR2,SPAG8 NA NA NA intronic ENSG00000137098,ENSG00000159899 NA NA NA NA NA 9p13.3 NA NA NA NA rs2281645 0.2 0.2 0.18 0.180711 0.3111 0.1359 0.2565 0.0257 0.2485 0.31 0.16 0.3 0.02 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 -1.434013 NA NA 0.302209 0.076033 NA 0.246 NA 3.128491 1347 12 9906067 9906067 T C UTR3 CD69 NM_001781:c.*10A>G NA NA UTR3 ENSG00000110848 ENST00000228434:c.*10A>G NA NA NA NA 12p13.31 NA NA Name=15 NA rs1051065 0.71 0.71 0.683 0.69369 0.7276 0.9643 0.7421 0.3124 0.8609 0.73 0.96 0.72 0.37 0.7468 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 0.075193 NA NA 0.730519 0.394008 NA 0.732 NA 3.1284144 1347 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 1347 5 32444286 32444286 A G intronic ZFR NA NA NA intronic ENSG00000056097 NA NA NA NA NA 5p13.3 NA Name=Pol2,YY1_(C-20),YY1,Egr-1 NA NA rs183443 0.66 0.66 0.662 0.671725 0.6243 0.5962 0.6369 0.8343 0.6033 0.63 0.62 0.6 0.79 0.6309 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 1.367508 1.367508 NA 0.616604 0.800091 NA 0.319 NA 3.128196 1347 10 29839513 29839513 A G intronic SVIL NA NA NA intronic ENSG00000197321 NA NA NA NA NA 10p11.23 NA NA NA NA rs10159964 0.3 0.3 0.271 0.301318 0.2386 0.3462 0.2608 0.4002 0.2147 0.24 0.33 0.27 0.39 0.3756 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.673705 NA NA 0.257809 0.38656 NA 0.333 NA 3.127991 1347 21 34014283 34014283 C A intronic SYNJ1 NA NA NA intronic ENSG00000159082 NA NA NA NA NA 21q22.11 NA NA NA NA rs2833929 0.28 0.28 0.264 0.291334 0.2863 0.3254 0.281 0.2587 0.3129 0.29 0.33 0.27 0.21 0.2885 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.800263 NA NA 0.297558 0.266228 NA 0.312 NA 3.127642 1347 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 1347 9 138555161 138555161 G A upstream LCN9 NA NA NA upstream ENSG00000148386 NA NA NA NA NA 9q34.3 NA NA NA NA rs10776838 0.13 0.13 0.105 0.119609 0.1869 0.1706 0.147 0.0204 0.1125 0.19 0.14 0.14 0.02 0.1592 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 -0.660891 NA NA 0.193344 0.05054 NA 0.043 NA 3.1272226 1347 10 12870714 12870714 A G intronic CAMK1D NA NA NA intronic ENSG00000183049 NA NA NA NA NA 10p13 NA NA NA NA rs2482075 0.92 0.92 0.931 0.917732 0.8728 0.9583 0.8631 0.9766 0.8814 0.87 0.96 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 0.565605 NA NA NA NA NA 0.667 NA 3.1272 1347 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 1347 22 37902177 37902177 T C intronic CARD10 NA NA NA intronic ENSG00000100065 NA NA NA NA NA 22q13.1 NA NA NA NA rs738304 0.24 0.24 NA 0.289736 0.3201 0.1458 0.2118 0.3767 0.3446 0.31 0.15 0.22 0.24 0.2608 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.041183 NA NA 0.292394 0.305581 NA 0.254 NA 3.126706 1347 19 45495668 45495668 G C intronic CLPTM1 NA NA NA intronic ENSG00000104853 NA NA NA NA NA 19q13.32 NA NA NA NA rs2075618 0.36 0.36 0.281 0.327676 0.3012 0.502 0.3746 0.2368 0.2648 0.3 0.51 0.39 0.26 0.3032 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.46539 NA NA 0.26907 0.245574 NA 0.333 NA 3.12653 1347 16 1261119 1261119 G A intronic CACNA1H NA NA NA intronic ENSG00000196557 NA NA NA NA NA 16p13.3 NA Name=Pol2 NA NA rs2738899 0.72 0.72 0.72 0.693291 0.6382 0.869 0.7161 0.6876 0.5603 0.63 0.9 0.69 0.65 0.6351 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 -0.298618 NA NA 0.600337 0.695825 NA 0.341 NA 3.126363 1347 11 60105199 60105199 G C intronic MS4A6E NA NA NA intronic ENSG00000166926 NA NA NA NA NA 11q12.2 NA NA NA NA rs2289614 0.23 0.23 0.197 0.192093 0.2843 0.1121 0.3963 0.1596 0.0787 0.3 0.13 0.32 0.19 0.2742 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.248958 NA NA 0.315233 0.196777 NA 0.225 NA 3.126267 1347 16 23546561 23546561 G C exonic EARS2 NA synonymous SNV EARS2:NM_001083614:exon4:c.C606G:p.V202V exonic ENSG00000103356 NA synonymous SNV ENSG00000103356:ENST00000449606:exon4:c.C606G:p.V202V,ENSG00000103356:ENST00000563232:exon4:c.C606G:p.V202V,ENSG00000103356:ENST00000563459:exon4:c.C606G:p.V202V,ENSG00000103356:ENST00000564501:exon4:c.C606G:p.V202V NA NA 16p12.2 NA NA NA NA rs2073951 0.8 0.8 0.819 0.802716 0.8499 0.7163 0.866 0.8109 0.7873 0.84 0.69 0.85 0.81 0.8308 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 0.375424 NA NA 0.859853 0.837703 NA 0.877 NA 3.1261136 1347 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 1347 13 111176393 111176393 A G exonic RAB20 NA synonymous SNV RAB20:NM_017817:exon2:c.T324C:p.F108F exonic ENSG00000139832 NA synonymous SNV ENSG00000139832:ENST00000267328:exon2:c.T324C:p.F108F NA NA 13q34 NA NA NA NA rs419244 0.86 0.86 0.833 0.852436 0.8509 0.9554 0.8732 0.7216 0.91 0.87 0.96 0.89 0.72 0.8548 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 1.150653 NA NA 0.835814 0.75783 NA 0.768 NA 3.1251526 1348 17 7220697 7220697 G T intronic NEURL4 NA NA NA intronic ENSG00000215041,ENSG00000261915 NA NA NA NA NA 17p13.1 NA NA NA NA rs62059198 0.17 0.17 0.157 0.166134 0.2833 0.1071 0.232 0.0083 0.273 0.29 0.12 0.24 0.02 0.2613 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.942125 2.942125 NA 0.330651 0.05667 NA 0.109 NA 3.124749 1348 7 5269424 5269424 A C intronic WIPI2 NA NA NA intronic ENSG00000157954 NA NA NA NA NA 7p22.1 NA NA NA NA rs7785898 0.91 0.91 0.923 0.91873 0.8757 0.9603 0.938 0.9289 0.8926 0.87 0.96 0.92 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 0.217609 NA NA NA NA NA 0.812 NA 3.1243 1348 14 102568296 102568296 G A exonic HSP90AA1 NA synonymous SNV HSP90AA1:NM_001017963:exon2:c.C282T:p.T94T exonic ENSG00000080824 NA synonymous SNV ENSG00000080824:ENST00000334701:exon2:c.C282T:p.T94T NA NA 14q32.31 NA NA NA NA rs10873531 0.7 0.7 0.681 0.664537 0.8807 0.7708 0.853 0.2776 0.7219 0.89 0.75 0.82 0.27 0.7961 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 -0.470285 NA NA 0.865698 0.369723 NA 0.638 NA 3.1241686 1348 4 6619204 6619204 G A exonic MAN2B2 NA synonymous SNV MAN2B2:NM_015274:exon17:c.G2799A:p.V933V exonic ENSG00000013288 NA synonymous SNV ENSG00000013288:ENST00000285599:exon17:c.G2799A:p.V933V,ENSG00000013288:ENST00000504248:exon17:c.G2646A:p.V882V NA NA 4p16.1 NA NA NA NA rs4689490 0.74 0.74 0.689 0.688498 0.8618 0.9038 0.8444 0.2769 0.7342 0.87 0.9 0.81 0.31 0.8099 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 0.352202 NA NA 0.871047 0.373128 NA 0.674 NA 3.1239196 1348 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 1348 17 4351396 4351396 C T intronic SPNS3 NA NA NA intronic ENSG00000182557 NA NA NA NA NA 17p13.2 NA NA NA NA rs6502786 0.69 0.69 0.667 0.694489 0.8767 0.2292 0.8487 0.7935 0.7434 0.87 0.22 0.89 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 0.435596 NA NA NA NA NA 0.819 NA 3.1233 1348 2 39030074 39030074 C T intronic DHX57 NA NA NA intronic ENSG00000163214 NA NA NA Score=243;Name=lod=13 NA 2p22.1 NA NA NA NA rs13029406 0.6 0.6 0.545 0.580871 0.6352 0.7857 0.5706 0.3026 0.6973 0.65 0.8 0.58 0.29 0.6154 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 2.452214 2.452214 NA 0.626744 0.351112 NA 0.507 NA 3.122656 1348 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 1348 16 71678679 71678679 G C downstream PHLPP2 NA NA NA UTR3 ENSG00000040199 ENST00000540628:c.*26C>G,ENST00000564884:c.*26C>G NA NA NA NA 16q22.2 NA NA NA NA rs7204608 0.87 0.87 0.87 NA NA NA NA NA NA 0.83 0.99 0.91 0.78 0.8781 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 0.311401 NA NA NA NA NA 0.826 NA 3.1219 1348 11 2427291 2427291 A C exonic TRPM5 NA synonymous SNV TRPM5:NM_014555:exon22:c.T3282G:p.G1094G exonic ENSG00000070985 NA synonymous SNV ENSG00000070985:ENST00000155858:exon22:c.T3282G:p.G1094G,ENSG00000070985:ENST00000452833:exon22:c.T3288G:p.G1096G,ENSG00000070985:ENST00000528453:exon22:c.T3282G:p.G1094G,ENSG00000070985:ENST00000533060:exon22:c.T3306G:p.G1102G,ENSG00000070985:ENST00000533881:exon22:c.T3264G:p.G1088G NA NA 11p15.5 NA NA NA NA rs800342 0.77 0.77 0.788 0.774361 0.8718 0.5387 0.6873 0.91 0.7955 0.88 0.53 0.76 0.87 0.8101 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 -0.903297 NA NA 0.86334 0.893733 NA 0.819 NA 3.1214266 1348 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 1348 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 1348 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 1348 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 1348 14 73412739 73412739 C T intronic DCAF4 NA NA NA intronic ENSG00000119599 NA NA NA NA NA 14q24.2 NA NA NA NA rs2246976 0.22 0.22 0.208 0.208466 0.3131 0.1518 0.1527 0.1914 0.2219 0.33 0.13 0.17 0.2 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 -0.947813 NA NA 0.302326 0.219473 NA 0.232 NA 3.120474 1348 15 45357410 45357410 T G intronic SORD NA NA NA intronic ENSG00000140263 NA NA NA NA NA 15q21.1 NA NA NA NA rs2854437 0.71 0.71 0.632 0.675719 0.8797 0.7946 0.781 0.1838 0.9335 0.89 0.79 0.83 0.25 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 0.004657 NA NA NA NA NA 0.667 NA 3.1203 1348 14 105179194 105179194 T C exonic INF2 NA synonymous SNV INF2:NM_001031714:exon18:c.T2640C:p.D880D,INF2:NM_022489:exon18:c.T2640C:p.D880D exonic ENSG00000203485 NA synonymous SNV ENSG00000203485:ENST00000252527:exon11:c.T1044C:p.D348D,ENSG00000203485:ENST00000330634:exon18:c.T2640C:p.D880D,ENSG00000203485:ENST00000392634:exon18:c.T2640C:p.D880D NA NA 14q32.33 NA NA NA NA rs10133301 0.91 0.91 0.9 0.909345 0.8489 0.9484 0.9092 0.9924 0.819 0.85 0.94 0.9 0.99 0.8608 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 1.292595 1.292595 NA 0.836715 0.969838 NA 0.833 NA 3.1202516 1348 7 107564539 107564539 G A intronic LAMB1 NA NA NA intronic ENSG00000091136,ENSG00000091140 NA NA NA NA NA 7q31.1 NA NA NA NA rs3213673 NA NA NA 0.452676 0.4046 0.4931 0.4467 0.4962 0.4059 NA NA NA NA 0.4755 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.252401 NA NA NA NA NA 0.312 NA 3.1199 1348 7 141420707 141420707 T C ncRNA_intronic FLJ40852 NA NA NA ncRNA_exonic ENSG00000228775 NA NA NA NA NA 7q34 NA NA NA NA rs6971275 0.53 0.53 0.539 0.571885 0.5099 0.3343 0.4928 0.8101 0.6145 0.52 0.33 0.49 0.79 0.5335 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 0.540489 NA NA 0.503656 0.759796 NA 0.601 NA 3.1196106 1348 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 1348 5 1073689 1073689 C T intronic SLC12A7 NA NA NA intronic ENSG00000113504 NA NA NA NA NA 5p15.33 NA NA NA NA rs10780095 0.7 0.7 0.676 0.645767 0.8807 0.8581 0.8588 0.118 0.7474 0.88 0.85 0.85 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 -0.260207 NA NA NA NA NA 0.623 NA 3.1193 1348 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 1348 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 1348 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 1348 11 93534932 93534932 C T intronic MED17 NA NA NA intronic ENSG00000042429 NA NA NA NA NA 11q21 NA NA NA NA rs35510332 NA NA NA 0.748602 0.8817 0.7917 0.889 0.4546 0.865 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.534306 NA NA NA NA NA NA NA 3.1183 1348 6 29625001 29625001 A G exonic MOG NA synonymous SNV MOG:NM_001008228:exon1:c.A15G:p.S5S,MOG:NM_001008229:exon1:c.A15G:p.S5S,MOG:NM_001170418:exon1:c.A15G:p.S5S,MOG:NM_002433:exon1:c.A15G:p.S5S,MOG:NM_206809:exon1:c.A15G:p.S5S,MOG:NM_206810:exon1:c.A15G:p.S5S,MOG:NM_206811:exon1:c.A15G:p.S5S,MOG:NM_206812:exon1:c.A15G:p.S5S,MOG:NM_206814:exon1:c.A15G:p.S5S exonic ENSG00000204655 NA synonymous SNV ENSG00000204655:ENST00000376888:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000376891:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000376894:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000376898:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000376902:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000376903:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000376917:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000396701:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000396704:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000416766:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000431798:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000483013:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000490427:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000494692:exon1:c.A15G:p.S5S,ENSG00000204655:ENST00000533330:exon1:c.A15G:p.S5S NA NA 6p22.1 NA NA NA NA rs3130250 0.9 0.9 0.909 0.926917 0.832 0.9732 0.9063 0.9478 0.9632 0.81 0.99 0.89 0.94 0.8793 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 -1.077453 NA NA 0.837394 0.921906 NA 0.891 NA 3.1179726 1348 12 9004512 9004512 G A exonic A2ML1 NA synonymous SNV A2ML1:NM_144670:exon19:c.G2367A:p.P789P exonic ENSG00000166535 NA synonymous SNV ENSG00000166535:ENST00000539547:exon8:c.G894A:p.P298P,ENSG00000166535:ENST00000541459:exon8:c.G1017A:p.P339P,ENSG00000166535:ENST00000299698:exon19:c.G2367A:p.P789P NA NA 12p13.31 NA NA NA NA rs1860927 0.86 0.86 0.846 0.868211 0.838 1 0.9006 0.6952 0.9744 0.85 1 0.87 0.73 0.87 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.579059 NA NA 0.840865 0.738228 ID=COSM1364786;OCCURENCE=1(large_intestine) 0.928 NA 3.1178016 1348 11 64033555 64033555 C T intronic PLCB3 NA NA NA intronic ENSG00000149782 NA NA NA NA NA 11q13.1 NA NA NA NA rs3815362 0.18 0.18 0.169 0.179912 0.2992 0.1399 0.1527 0.0386 0.3088 0.29 0.14 0.19 0.05 0.2628 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234596 NA NA 0.32034 0.070877 NA 0.283 NA 3.11766 1348 15 52186158 52186158 A C intronic TMOD3 NA NA NA ncRNA_intronic ENSG00000259201 NA NA NA NA NA 15q21.2 NA NA NA NA rs2959285 0.34 0.34 0.3 0.322284 0.4175 0.2758 0.379 0.27 0.3027 0.41 0.28 0.39 0.28 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 1.123275 NA NA 0.408223 0.273349 NA 0.283 NA 3.1174103 1348 3 119128628 119128628 A G intronic ARHGAP31 NA NA NA intronic ENSG00000031081 NA NA NA Score=381;Name=lod=47 NA 3q13.33 NA NA NA NA rs1463139 0.63 0.63 0.634 0.633786 0.6292 0.4792 0.6585 0.7481 0.6258 0.62 0.52 0.64 0.74 0.6424 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.711161 NA NA 0.610991 0.713186 NA 0.601 NA 3.117409 1348 16 31143993 31143993 C T intronic PRSS8 NA NA NA intronic ENSG00000052344 NA NA NA NA NA 16p11.2 NA NA NA NA rs45619735 0.15 0.15 0.14 0.122404 0.3201 0.003 0.1744 0.0408 0.1155 0.31 NA 0.2 0.06 0.2347 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.328062 NA NA 0.328125 0.081312 NA 0.181 NA 3.117075 1348 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 1348 6 89891582 89891582 T C intronic GABRR1 NA NA NA intronic ENSG00000146276 NA NA NA NA NA 6q15 NA NA NA NA rs404943 0.38 0.38 0.378 0.377396 0.2773 0.621 0.3847 0.2882 0.3446 0.28 0.6 0.34 0.32 0.3291 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.1211 NA NA 0.276977 0.292556 NA 0.319 NA 3.116623 1348 10 95072906 95072906 T C exonic MYOF NA synonymous SNV MYOF:NM_133337:exon50:c.A5721G:p.R1907R,MYOF:NM_013451:exon51:c.A5760G:p.R1920R exonic ENSG00000138119 NA synonymous SNV ENSG00000138119:ENST00000358334:exon50:c.A5721G:p.R1907R,ENSG00000138119:ENST00000359263:exon51:c.A5760G:p.R1920R,ENSG00000138119:ENST00000371501:exon51:c.A5760G:p.R1920R,ENSG00000138119:ENST00000371502:exon51:c.A5730G:p.R1910R NA NA 10q23.33 NA NA NA NA rs787666 0.84 0.84 0.852 0.84345 0.8479 0.9107 0.7795 0.7867 0.8916 0.85 0.9 0.78 0.82 0.8485 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 0.457044 NA NA 0.853697 0.799294 NA 0.826 NA 3.1165696 1348 15 22490035 22490035 A G intergenic OR4N3P,REREP3 dist=75640;dist=56530 NA NA downstream ENSG00000271507 NA NA NA NA NA 15q11.2 NA NA NA NA rs72687802 NA NA 0.169 NA NA NA NA NA NA NA NA NA NA 0.3839 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 -0.61154 NA NA NA NA NA 0.022 NA 3.1161 1348 10 76855326 76855326 A G intronic DUSP13 NA NA NA intronic ENSG00000079393 NA NA NA NA NA 10q22.2 NA NA NA NA rs3740318 0.42 0.42 0.386 0.426318 0.2773 0.6379 0.4452 0.4463 0.3211 0.29 0.62 0.37 0.41 0.3398 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.559394 NA NA 0.266977 0.430776 NA 0.464 NA 3.115923 1348 3 14555216 14555216 T C exonic GRIP2 NA unknown UNKNOWN ncRNA_exonic ENSG00000144596 NA NA NA NA NA 3p25.1 NA NA NA NA rs4685171 0.64 0.64 0.609 0.660743 0.5497 0.7728 0.6715 0.5877 0.7505 0.56 0.8 0.62 0.6 0.6175 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 -1.453479 NA NA 0.550223 0.59362 NA 0.652 NA 3.1159103 1348 14 73404795 73404795 G A intronic DCAF4 NA NA NA intronic ENSG00000119599 NA NA NA NA NA 14q24.2 NA NA NA NA rs2302587 0.22 0.22 0.203 0.208067 0.3131 0.1518 0.1527 0.1899 0.2219 0.33 0.13 0.17 0.2 0.2693 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.353914 NA NA 0.301744 0.221062 NA 0.232 NA 3.115856 1348 8 27311703 27311703 T C exonic PTK2B NA synonymous SNV PTK2B:NM_173175:exon28:c.T2502C:p.T834T,PTK2B:NM_173176:exon29:c.T2628C:p.T876T,PTK2B:NM_004103:exon30:c.T2628C:p.T876T,PTK2B:NM_173174:exon34:c.T2628C:p.T876T exonic ENSG00000120899 NA synonymous SNV ENSG00000120899:ENST00000517339:exon27:c.T2502C:p.T834T,ENSG00000120899:ENST00000420218:exon28:c.T2502C:p.T834T,ENSG00000120899:ENST00000346049:exon29:c.T2628C:p.T876T,ENSG00000120899:ENST00000338238:exon33:c.T2502C:p.T834T,ENSG00000120899:ENST00000544172:exon33:c.T2628C:p.T876T,ENSG00000120899:ENST00000397501:exon34:c.T2628C:p.T876T NA NA 8p21.2 NA NA NA NA rs1879184 0.76 0.76 0.776 0.797724 0.8499 0.5565 0.817 0.9009 0.8395 0.86 0.49 0.81 0.9 0.8359 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 0.53369 NA NA 0.865349 0.885384 NA 0.848 NA 3.1155176 1348 1 22032570 22032570 T G intronic USP48 NA NA NA intronic ENSG00000090686 NA NA NA NA NA 1p36.12 NA NA NA NA rs333173 0.16 0.16 0.14 0.146565 0.33 0.0238 0.1527 0.0295 0.2382 0.32 0.02 0.19 0.04 0.2394 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.313908 NA NA 0.315116 0.072855 NA 0.072 NA 3.115484 1348 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 1348 2 11333994 11333994 T G intronic ROCK2 NA NA NA intronic ENSG00000134318 NA NA NA NA NA 2p25.1 NA NA NA NA rs2271621 0.31 0.31 0.293 0.301917 0.2853 0.5526 0.2305 0.09 0.3978 0.3 0.54 0.24 0.12 0.3182 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.537989 2.537989 NA 0.28135 0.116546 NA 0.167 NA 3.11515 1349 1 205052939 205052939 G A exonic TMEM81 NA synonymous SNV TMEM81:NM_203376:exon1:c.C510T:p.L170L exonic ENSG00000174529 NA synonymous SNV ENSG00000174529:ENST00000367167:exon1:c.C510T:p.L170L NA NA 1q32.1 NA NA NA NA rs4950979 0.79 0.79 0.768 0.798722 0.84 0.9762 0.8718 0.5008 0.9243 0.84 0.97 0.86 0.46 0.8548 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 0.299015 NA NA 0.857442 0.561961 NA 0.732 NA 3.1144246 1349 10 88126056 88126056 T G intronic GRID1 NA NA NA intronic ENSG00000182771 NA NA NA NA NA 10q23.2 NA Name=ZNF263 Name=10 NA rs11202000 0.97 0.97 0.98 0.961661 0.9712 0.998 0.8401 0.9962 0.954 0.97 1 0.86 0.99 0.9517 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418617 NA NA 0.962677 0.990995 NA NA NA 3.114423 1349 7 158715264 158715264 A G intronic WDR60 NA NA NA intronic ENSG00000126870 NA NA NA NA NA 7q36.3 NA NA NA NA rs6459913 0.42 0.42 0.414 0.434904 0.2853 0.624 0.3501 0.5333 0.3211 0.27 0.58 0.32 0.53 0.331 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.336588 NA NA 0.269303 0.480699 NA 0.333 NA 3.114397 1349 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 1349 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 1349 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 1349 21 43242207 43242207 G A intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs28360603 0.4 0.4 0.385 0.345248 0.4583 0.3542 0.5317 0.2103 0.2699 0.46 0.38 0.54 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 -0.755292 NA NA 0.428428 0.25 NA 0.225 NA 3.113272 1349 16 31138445 31138445 G A intronic KAT8 NA NA NA intronic ENSG00000103510 NA NA NA NA NA 16p11.2 NA NA NA NA rs72785553 0.15 0.15 0.148 0.121206 0.3201 0.003 0.1744 0.0371 0.1145 0.31 NA 0.2 0.06 0.2332 0.33 NA NA 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 0.333721 0.080109 NA 0.181 NA 3.112979 1349 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 1349 1 43675467 43675467 G A exonic WDR65 NA synonymous SNV WDR65:NM_001167965:exon11:c.G1809A:p.S603S,WDR65:NM_001195831:exon11:c.G1809A:p.S603S,WDR65:NM_152498:exon11:c.G1809A:p.S603S exonic ENSG00000243710 NA synonymous SNV ENSG00000243710:ENST00000372492:exon11:c.G1809A:p.S603S,ENSG00000243710:ENST00000528956:exon11:c.G1809A:p.S603S NA NA 1p34.2 NA NA NA NA rs2453412 0.73 0.73 0.737 0.694888 0.8877 0.6786 0.6772 0.5408 0.7342 0.89 0.7 0.73 0.53 0.7914 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 -0.195456 NA NA 0.875814 0.57399 NA 0.761 NA 3.1117526 1349 13 38924083 38924083 A T intronic UFM1 NA NA NA intronic ENSG00000120686 NA NA NA NA NA 13q13.3 NA Name=E2F6_(H-50),POU2F2,Pol2(phosphoS2),Pol2,GATA-1,HEY1,ELF1_(SC-631),Pol2-4H8,GABP,ZEB1_(SC-25388),TAF1,THAP1_(SC-98174),Sin3Ak-20,c-Myc,Oct-2,YY1_(C-20),Max,PU.1,TBP,Egr-1,ELK4,Pol2(b) Name=148 NA rs2231330 0.9 0.9 0.87 0.864217 0.9771 0.9911 0.9568 0.5635 0.9581 0.98 0.99 0.95 0.62 0.9399 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 1.139973 NA NA 0.971395 0.613936 NA 0.884 NA 3.111605 1349 17 41960343 41960343 T C exonic MPP2 NA synonymous SNV MPP2:NM_005374:exon5:c.A381G:p.T127T exonic ENSG00000108852 NA synonymous SNV ENSG00000108852:ENST00000377184:exon4:c.A432G:p.T144T,ENSG00000108852:ENST00000523220:exon4:c.A330G:p.T110T,ENSG00000108852:ENST00000523501:exon4:c.A348G:p.T116T,ENSG00000108852:ENST00000523762:exon4:c.A348G:p.T116T,ENSG00000108852:ENST00000536246:exon4:c.A348G:p.T116T,ENSG00000108852:ENST00000269095:exon5:c.A381G:p.T127T,ENSG00000108852:ENST00000518766:exon5:c.A516G:p.T172T,ENSG00000108852:ENST00000520241:exon5:c.A399G:p.T133T,ENSG00000108852:ENST00000520406:exon5:c.A381G:p.T127T,ENSG00000108852:ENST00000523934:exon5:c.A381G:p.T127T,ENSG00000108852:ENST00000461854:exon6:c.A453G:p.T151T NA NA 17q21.31 NA NA NA NA rs124719 0.84 0.84 0.817 0.826278 0.838 1 0.9006 0.587 0.9059 0.84 1 0.87 0.62 0.8611 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.921557 NA NA 0.856163 0.630958 NA 0.826 NA 3.1114036 1349 14 22362971 22362971 A G intergenic OR4E2,DAD1 dist=228733;dist=670836 NA NA exonic ENSG00000211790 NA synonymous SNV ENSG00000211790:ENST00000390438:exon2:c.A102G:p.E34E NA NA 14q11.2 NA NA NA NA rs2075481 0.57 0.57 0.561 0.612021 0.4245 0.625 0.4841 0.7769 0.6595 0.42 0.64 0.49 0.75 0.5141 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 -0.164307 NA NA 0.450772 0.719817 NA 0.536 NA 3.110628 1349 19 36605647 36605647 T C intronic POLR2I NA NA NA intronic ENSG00000105258 NA NA NA NA NA 19q13.12 NA Name=HEY1,Pol2-4H8,TAF1,HA-E2F1,Pol2,Pol2(phosphoS2),YY1_(C-20) 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 1349 12 124008073 124008073 A G exonic RILPL1 NA synonymous SNV RILPL1:NM_178314:exon2:c.T429C:p.N143N exonic ENSG00000188026 NA synonymous SNV ENSG00000188026:ENST00000376874:exon2:c.T429C:p.N143N NA NA 12q24.31 NA NA NA NA rs2292500 0.84 0.84 0.847 0.817692 0.8638 0.9097 0.8804 0.6657 0.8364 0.87 0.92 0.86 0.66 0.8481 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 -0.829961 NA NA 0.8445 0.680422 NA 0.768 NA 3.1102666 1349 7 101926087 101926087 G T intronic CUX1 NA NA NA intronic ENSG00000257923 NA NA NA NA NA 7q22.1 NA NA NA NA rs73712454 0.22 0.22 0.199 0.204273 0.3052 0.1885 0.2795 0.0651 0.2515 0.3 0.17 0.32 0.08 0.2849 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.217419 NA NA 0.30007 0.106721 NA 0.246 NA 3.10983 1349 16 81888237 81888237 G C intronic PLCG2 NA NA NA intronic ENSG00000197943 NA NA NA NA NA 16q23.3 NA NA NA NA rs4072828 0.21 0.21 0.194 0.209265 0.3111 0.0625 0.2839 0.1415 0.2945 0.32 0.08 0.3 0.13 0.2749 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.204635 NA NA 0.30427 0.153017 NA 0.203 NA 3.10973 1349 19 55570574 55570574 A G exonic RDH13 NA synonymous SNV RDH13:NM_001145971:exon2:c.T135C:p.G45G exonic ENSG00000160439 NA synonymous SNV ENSG00000160439:ENST00000291892:exon2:c.T135C:p.G45G,ENSG00000160439:ENST00000415061:exon2:c.T135C:p.G45G,ENSG00000160439:ENST00000592573:exon2:c.T135C:p.G45G NA NA 19q13.42 NA NA NA NA rs1654447 0.88 0.88 0.863 0.859425 0.8509 0.9722 0.8934 0.798 0.8108 0.85 0.98 0.88 0.82 0.8629 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 1.117304 NA NA 0.843244 0.794324 ID=COSM440330;OCCURENCE=1(breast) 0.833 NA 3.1096226 1349 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 1349 20 21336825 21336825 G A intronic XRN2 NA NA NA intronic ENSG00000088930 NA NA NA NA NA 20p11.22 NA Name=CEBPB NA NA rs3787500 0.5 0.5 0.473 0.493211 0.6163 0.4782 0.67 0.1785 0.682 0.64 0.49 0.62 0.21 0.6183 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 -1.42436 NA NA 0.656047 0.262823 NA 0.5 NA 3.109353 1349 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 1349 15 66604032 66604032 C T intronic DIS3L NA NA NA intronic ENSG00000166938 NA NA NA NA NA 15q22.31 NA NA NA NA rs28616181 0.25 0.25 0.226 0.252196 0.2942 0.3155 0.3256 0.1006 0.2965 0.3 0.3 0.3 0.1 0.2931 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.850346 NA NA 0.303792 0.14289 NA 0.152 NA 3.108908 1349 4 6292909 6292909 C T intronic WFS1 NA NA NA intronic ENSG00000109501 NA NA NA NA NA 4p16.1 NA NA NA NA rs9998519 0.72 0.72 0.711 0.715056 0.6312 0.8909 0.7017 0.6498 0.7178 0.62 0.92 0.69 0.66 0.6513 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 -0.161843 NA NA 0.608721 0.631185 NA 0.638 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038663.1;CLNDSDB=.;CLNDSDBID=. 3.108779 1349 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 1349 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 1349 15 70353075 70353075 C A intronic TLE3 NA NA NA intronic ENSG00000140332 NA NA NA NA NA 15q23 NA NA NA NA rs3825968 0.27 0.27 0.257 0.210863 0.2952 0.2321 0.3329 0.1354 0.1176 0.32 0.25 0.35 0.15 0.2991 0.35 NA NA 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 0.297236 0.152397 NA 0.246 NA 3.108464 1349 12 7803562 7803562 C A intronic APOBEC1 NA NA NA intronic ENSG00000111701 NA NA NA NA NA 12p13.31 NA NA NA NA rs10431308 0.68 0.68 0.65 0.64357 0.8917 0.5546 0.6182 0.4463 0.7648 0.89 0.57 0.7 0.48 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 0.080991 NA NA NA NA NA 0.659 NA 3.1083 1349 3 38802251 38802251 A G intronic SCN10A NA NA NA intronic ENSG00000185313 NA NA NA NA NA 3p22.2 NA NA NA NA rs7641844 0.4 0.4 0.397 0.388778 0.2793 0.6815 0.2522 0.3275 0.3793 0.28 0.69 0.25 0.37 0.3299 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 2.106939 2.106939 NA 0.282558 0.350885 NA 0.348 NA 3.108242 1349 1 67558739 67558739 C T exonic C1orf141 NA synonymous SNV C1orf141:NM_001276351:exon8:c.G1152A:p.T384T exonic ENSG00000203963 NA synonymous SNV ENSG00000203963:ENST00000371006:exon6:c.G1152A:p.T384T,ENSG00000203963:ENST00000371007:exon8:c.G1152A:p.T384T,ENSG00000203963:ENST00000544837:exon8:c.G1152A:p.T384T NA NA 1p31.3 NA NA NA NA rs6588237 0.89 0.89 0.895 0.920727 0.8141 0.9722 0.9107 0.9228 0.9816 0.81 0.97 0.9 0.92 0.8872 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 -0.233661 NA NA 0.857226 0.915077 NA 0.891 NA 3.1081406 1349 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 1349 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 1349 16 825124 825124 C G intergenic MIR662,RPUSD1 dist=4847;dist=9850 NA NA intronic ENSG00000162006 NA NA NA NA NA 16p13.3 NA NA NA NA rs34636186 0.16 0.16 0.127 0.147963 0.162 0.2649 0.1225 0.0469 0.1677 0.17 0.26 0.12 0.05 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 -0.582319 NA NA 0.164086 0.051921 NA 0.087 NA 3.1078807 1349 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 1349 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 1349 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 1349 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 1349 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 1349 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 1350 21 28217320 28217320 C G UTR5 ADAMTS1 NM_006988:c.-47G>C NA NA UTR5 ENSG00000154734 ENST00000284984:c.-47G>C NA NA NA NA 21q21.3 NA Name=CTCF NA NA rs402007 0.66 0.66 0.736 0.688498 0.7376 0.4484 0.4928 0.9289 0.6994 0.74 0.43 0.51 0.92 0.7008 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 2.772149 2.772149 NA 0.790037 0.906335 NA 0.565 NA 3.1048964 1350 12 57602815 57602815 C G intronic LRP1 NA NA NA intronic ENSG00000123384 NA NA NA NA NA 12q13.3 NA NA Name=23 NA rs7956957 0.52 0.52 0.464 0.507388 0.6501 0.5 0.5101 0.2148 0.7618 0.65 0.55 0.54 0.25 0.5928 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033985 NA NA 0.652209 0.297776 NA 0.572 NA 3.104891 1350 17 74283253 74283253 A G intronic QRICH2 NA NA NA intronic ENSG00000129646 NA NA NA NA NA 17q25.1 NA NA NA NA rs8072620 0.44 0.44 0.47 0.452875 0.2724 0.5724 0.304 0.6513 0.3528 0.26 0.58 0.29 0.67 0.3401 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 -0.657433 NA NA 0.282791 0.612574 NA 0.391 NA 3.104709 1350 4 6292915 6292915 A G intronic WFS1 NA NA NA intronic ENSG00000109501 NA NA NA NA NA 4p16.1 NA NA NA NA rs10010131 0.73 0.73 0.72 0.728834 0.6312 0.9038 0.7032 0.6914 0.7178 0.63 0.94 0.69 0.7 0.6555 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 0.03966 NA NA 0.60907 0.657286 NA 0.667 CLINSIG=other|other;CLNDBN=Diabetes_mellitus\x2c_noninsulin-dependent\x2c_association_with|not_specified;CLNREVSTAT=single|mult;CLNACC=RCV000004785.4|RCV000038664.3;CLNDSDB=.|.;CLNDSDBID=.|. 3.10423 1350 11 44104885 44104885 T G intronic ACCS NA NA NA intronic ENSG00000110455 NA NA NA NA NA 11p11.2 NA NA NA NA rs3107274 0.3 0.3 0.3 0.264577 0.338 0.3562 0.2017 0.1944 0.2342 0.34 0.39 0.18 0.24 0.2742 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025372 NA NA 0.283605 0.201997 NA 0.261 NA 3.104195 1350 19 17440542 17440542 C G intronic ANO8 NA NA NA intronic ENSG00000074855 NA NA NA NA NA 19p13.11 NA NA NA NA rs8110408 0.32 0.32 0.331 0.330671 0.2773 0.1458 0.196 0.7027 0.1687 0.28 0.13 0.22 0.66 0.3439 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 0.238239 NA NA 0.27518 0.641981 NA 0.304 NA 3.10362 1350 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 1350 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 1350 10 13225119 13225119 G A intronic MCM10 NA NA NA intronic ENSG00000065328 NA NA NA NA NA 10p13 NA NA NA NA rs11258235 0.28 0.28 0.261 0.280751 0.2833 0.4018 0.2032 0.205 0.3108 0.28 0.4 0.21 0.2 0.3 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.387122 2.387122 NA 0.314535 0.215842 NA 0.297 NA 3.102165 1350 5 147819366 147819366 T C intronic FBXO38 NA NA NA intronic ENSG00000145868 NA NA NA NA NA 5q32 NA NA NA NA rs10051223 0.47 0.47 0.494 0.504593 0.2565 0.5982 0.3833 0.7693 0.3916 0.26 0.59 0.39 0.73 0.3652 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 3.08548 3.08548 NA 0.276395 0.676577 ID=COSN167595;OCCURENCE=2(large_intestine),1(endometrium) 0.37 NA 3.101905 1350 19 1495277 1495277 C T intronic REEP6 NA NA NA intronic ENSG00000115255 NA NA NA NA NA 19p13.3 NA NA NA NA rs12459408 0.33 0.33 0.313 0.328275 0.3191 0.3919 0.2666 0.267 0.3988 0.31 0.39 0.29 0.31 0.3019 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.583604 NA NA 0.277455 0.255793 NA 0.37 NA 3.101545 1350 19 44564981 44564981 G A exonic ZNF223 NA synonymous SNV ZNF223:NM_013361:exon4:c.G222A:p.R74R exonic ENSG00000178386,ENSG00000267022 NA synonymous SNV ENSG00000178386:ENST00000591850:exon2:c.G114A:p.R38R,ENSG00000178386:ENST00000434772:exon4:c.G222A:p.R74R,ENSG00000178386:ENST00000585552:exon4:c.G222A:p.R74R,ENSG00000178386:ENST00000593088:exon4:c.G222A:p.R74R,ENSG00000267022:ENST00000591793:exon6:c.G552A:p.R184R NA NA 19q13.31 NA NA NA NA rs3826941 0.74 0.74 0.732 0.730631 0.8917 0.5655 0.7133 0.6641 0.8374 0.89 0.55 0.78 0.7 0.8052 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 0.436466 NA NA 0.868488 0.705629 NA 0.819 NA 3.1012786 1350 4 16510131 16510131 C T intronic LDB2 NA NA NA ncRNA_intronic ENSG00000248138 NA NA NA NA NA 4p15.32 NA NA NA NA rs9993371 0.4 0.4 0.385 0.367212 0.4155 0.3849 0.3761 0.3472 0.32 0.42 0.41 0.4 0.35 0.3858 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.070764 4.070764 NA 0.43093 0.337948 NA 0.312 NA 3.1011033 1350 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 1350 2 55599655 55599655 G A intronic CCDC88A NA NA NA intronic ENSG00000115355 NA NA NA Score=586;Name=lod=322 NA 2p16.1 NA NA NA NA rs3111411 0.48 0.48 0.422 0.464058 0.6859 0.1458 0.647 0.3676 0.5644 0.7 0.15 0.67 0.37 0.6 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 2.628826 2.628826 NA 0.613493 0.417805 ID=COSM148864;OCCURENCE=1(stomach) 0.486 NA 3.100607 1350 6 30075843 30075843 T C exonic TRIM31 NA synonymous SNV TRIM31:NM_007028:exon6:c.A870G:p.L290L exonic ENSG00000204616 NA synonymous SNV ENSG00000204616:ENST00000376734:exon6:c.A870G:p.L290L,ENSG00000204616:ENST00000540829:exon6:c.A870G:p.L290L NA NA 6p22.1 NA NA NA NA rs3132679 0.81 0.81 0.764 0.837061 0.8638 0.9196 0.853 0.6876 0.9151 0.85 0.89 0.84 0.62 0.8563 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 -0.57999 NA NA 0.846069 0.722369 NA 0.783 NA 3.1004976 1350 2 237029104 237029104 C T intronic AGAP1 NA NA NA intronic ENSG00000157985 NA NA NA NA NA 2q37.2 NA NA NA NA rs2278884 0.28 0.28 0.291 0.26877 0.2952 0.3194 0.2262 0.152 0.3773 0.31 0.32 0.27 0.2 0.3145 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.77036 NA NA 0.289993 0.174462 NA 0.29 NA 3.100307 1350 1 20027404 20027404 G A intronic TMCO4 NA NA NA intronic ENSG00000162542 NA NA NA NA NA 1p36.13 NA NA NA NA rs10799834 0.42 0.42 0.43 0.408546 0.2753 0.6319 0.3112 0.4493 0.3292 0.28 0.65 0.3 0.47 0.3431 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.311831 NA NA 0.281744 0.432138 NA 0.29 NA 3.099856 1350 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 1350 11 46001229 46001229 G C intronic PHF21A NA NA NA intronic ENSG00000135365 NA NA NA NA NA 11p11.2 NA NA NA NA rs2946005 0.9 0.9 0.886 0.883387 0.9006 0.998 0.9265 0.7572 0.8875 0.91 1 0.92 0.74 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 0.083439 NA NA NA NA NA 0.819 NA 3.0994 1350 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 1350 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 1350 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 1350 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 1350 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 1350 1 76272837 76272837 A G intronic MSH4 NA NA NA intronic ENSG00000057468 NA NA NA NA NA 1p31.1 NA NA NA NA rs3737574 0.31 0.31 0.318 0.330272 0.2714 0.6895 0.2248 0.0265 0.5061 0.29 0.62 0.23 0.03 0.3315 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.746745 NA NA 0.299535 0.079019 NA 0.362 NA 3.097565 1350 19 960187 960187 G C intronic ARID3A NA NA NA intronic ENSG00000116017 NA NA NA NA NA 19p13.3 NA Name=Rad21,CTCF,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 1350 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 1350 1 114191994 114191994 G A intronic MAGI3 NA NA NA intronic ENSG00000081026 NA NA NA NA NA 1p13.2 NA NA NA NA rs1743594 0.32 0.32 0.351 0.338658 0.2744 0.0804 0.2594 0.677 0.2699 0.28 0.1 0.3 0.67 0.3053 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 -0.230194 NA NA 0.323023 0.581253 NA 0.384 NA 3.097277 1350 1 203053768 203053768 T C intronic MYOG NA NA NA intronic ENSG00000122180 NA NA NA NA NA 1q32.1 NA Name=SMC3_(ab9263),Rad21,TCF4,CTCF_(SC-5916),CTCF_(C-20),CTCF Name=20 NA rs903356 0.96 0.96 0.962 0.95607 0.9742 0.8819 0.9827 0.9992 0.9366 0.97 0.89 0.97 1 0.9644 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.027507 NA NA 0.964186 0.990468 NA 0.978 NA 3.097214 1350 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 1350 11 134234186 134234186 G A intronic GLB1L2 NA NA NA intronic ENSG00000149328 NA NA NA NA NA 11q25 NA NA NA NA rs60460137 0.3 0.3 0.311 0.314297 0.3111 0.498 0.2205 0.1271 0.4479 0.32 0.5 0.23 0.11 0.304 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.877558 NA NA 0.287875 0.159246 NA 0.304 NA 3.097025 1350 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 1350 11 76827223 76827223 G C intronic CAPN5 NA NA NA intronic ENSG00000149260 NA NA NA NA NA 11q13.5 NA NA NA NA rs11606456 0.37 0.37 0.388 0.375399 0.2913 0.4177 0.2839 0.4826 0.3384 0.29 0.42 0.29 0.5 0.322 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.333046 NA NA 0.290451 0.449451 NA 0.29 NA 3.096249 1350 10 3190265 3190265 A G ncRNA_exonic PITRM1-AS1 NA NA NA ncRNA_exonic ENSG00000237399 NA NA NA NA NA 10p15.2 NA NA NA NA rs4881111 0.5 0.5 0.485 0.479433 0.5487 0.5516 0.4726 0.3253 0.547 0.56 0.57 0.52 0.33 0.5035 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.961917 NA NA 0.518363 0.360051 NA 0.5 NA 3.0961036 1350 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 1350 20 39978564 39978564 G T intronic LPIN3 NA NA NA intronic ENSG00000132793 NA NA NA NA NA 20q12 NA NA NA NA rs6029646 0.51 0.51 0.525 0.536941 0.2555 0.8056 0.4265 0.6967 0.4121 0.25 0.81 0.36 0.67 0.3772 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 0.352101 NA NA 0.271422 0.640483 NA 0.486 NA 3.095878 1350 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 1350 3 14756730 14756730 A G intronic C3orf20 NA NA NA intronic ENSG00000131379 NA NA NA NA NA 3p25.1 NA NA NA NA rs9869372 0.83 0.83 0.839 0.807907 0.9046 0.7232 0.8372 0.8003 0.7853 0.91 0.72 0.85 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 0.508366 NA NA NA NA NA 0.797 NA 3.0954 1350 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 1350 15 42132896 42132896 C T intronic JMJD7-PLA2G4B,PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243708 NA NA NA NA NA 15q15.1 NA NA NA NA rs1122884 0.15 0.15 0.131 0.160144 0.33 0.0179 0.1888 0.0484 0.2628 0.31 0.01 0.19 0.04 0.2534 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.42248 NA NA 0.321512 0.087608 NA 0.181 NA 3.095088 1351 7 75614296 75614296 G A intronic POR NA NA NA intronic ENSG00000127948 NA NA NA NA NA 7q11.23 NA NA NA NA rs2286823 0.32 0.32 0.317 0.299521 0.3012 0.4216 0.3905 0.202 0.2393 0.31 0.41 0.37 0.19 0.3053 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.13259 NA NA 0.298576 0.188656 NA 0.239 NA 3.094924 1351 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 1351 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 1351 2 220088248 220088248 A G intronic ATG9A NA NA NA intronic ENSG00000198925 NA NA NA NA NA 2q35 NA NA NA NA rs908196 0.77 0.77 0.741 0.736022 0.9056 0.8621 0.8415 0.4054 0.8037 0.91 0.85 0.81 0.42 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 3.182661 3.182661 NA NA NA NA 0.732 NA 3.0944 1351 22 45929577 45929577 T C intronic FBLN1 NA NA NA intronic ENSG00000077942 NA NA NA NA NA 22q13.31 NA NA NA NA rs105199 0.93 0.93 0.928 0.938898 0.9066 0.9673 0.9222 0.9592 0.9274 0.9 0.97 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 0.86882 NA NA NA NA NA 0.986 NA 3.0934 1351 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 1351 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 1351 10 13275510 13275510 C G intronic UCMA NA NA NA intronic ENSG00000165623 NA NA NA NA NA 10p13 NA NA NA NA rs7893239 0.36 0.36 0.314 0.344649 0.2883 0.3383 0.4568 0.416 0.2331 0.29 0.32 0.42 0.47 0.3323 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.766136 NA NA 0.286279 0.355424 NA 0.232 NA 3.093121 1351 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 1351 2 179632710 179632710 T C intronic TTN NA NA NA ncRNA_intronic ENSG00000237298 NA NA NA NA NA 2q31.2 NA NA Name=2 NA rs2291313 0.55 0.55 0.543 0.503994 0.7763 0.3224 0.4827 0.4085 0.5552 0.78 0.32 0.59 0.43 0.6657 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 -0.534135 NA NA 0.798837 0.460281 ID=COSN166344;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.58 NA 3.0924963 1351 1 151546931 151546931 A G intronic TUFT1 NA NA NA intronic ENSG00000143367 NA NA NA NA NA 1q21.3 NA NA NA NA rs6660238 0.89 0.89 0.877 0.900559 0.9076 0.9296 0.8184 0.8548 0.9836 0.91 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 0.59723 NA NA NA NA NA 0.862 NA 3.0924 1351 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 1351 7 142378633 142378633 G A intergenic MTRNR2L6,PRSS1 dist=3108;dist=78686 NA NA exonic ENSG00000211751 NA nonsynonymous SNV ENSG00000211751:ENST00000390398:exon1:c.G25A:p.V9M NA NA 7q34 NA NA NA NA rs17243 0.5 0.5 0.45 0.483027 0.5646 0.6687 0.4539 0.1596 0.6656 0.58 0.65 0.5 0.21 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 1.957124 1.957124 0.06 0.555366 0.196656 NA 0.5 NA 3.0922674 1351 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 1351 16 81190601 81190601 T C exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN Score=349;Name=lod=35 NA 16q23.2 NA NA NA NA rs1453325 0.98 0.98 0.019 0.969249 0.9672 1 0.9769 0.9281 0.9898 1 1 0.99 0.93 0.9739 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.180622 NA NA 0.967753 0.9947 NA 0.899 NA 3.091147 1351 19 4847874 4847874 A G exonic PLIN3 NA synonymous SNV PLIN3:NM_001164189:exon6:c.T663C:p.F221F,PLIN3:NM_001164194:exon6:c.T627C:p.F209F,PLIN3:NM_005817:exon6:c.T663C:p.F221F exonic ENSG00000105355 NA synonymous SNV ENSG00000105355:ENST00000221957:exon6:c.T663C:p.F221F,ENSG00000105355:ENST00000585479:exon6:c.T663C:p.F221F,ENSG00000105355:ENST00000592528:exon6:c.T627C:p.F209F NA NA 19p13.3 NA NA NA NA rs9304915 0.88 0.88 0.878 0.865815 0.8708 0.8948 0.915 0.8464 0.8221 0.87 0.9 0.93 0.87 0.8581 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 -1.00913 NA NA 0.846628 0.865184 NA 0.891 NA 3.0911386 1351 3 58111285 58111285 T G intronic FLNB NA NA NA intronic ENSG00000136068 NA NA NA NA NA 3p14.3 NA NA NA NA rs3732633 0.54 0.54 0.542 0.585863 0.2793 0.9216 0.4827 0.6082 0.5982 0.27 0.91 0.41 0.61 0.3862 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 0.828766 NA NA 0.243837 0.548343 NA 0.5 NA 3.090663 1351 16 3166587 3166587 A G intronic ZNF205 NA NA NA ncRNA_intronic ENSG00000263072 NA NA NA NA NA 16p13.3 NA NA NA NA rs224178 0.41 0.41 0.359 0.404153 0.4185 0.4742 0.4841 0.2912 0.4131 0.42 0.45 0.47 0.32 0.4292 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.405153 NA NA 0.395116 0.293127 NA 0.254 NA 3.0905173 1351 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 1351 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 1351 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 1351 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 1351 9 131379967 131379967 C T exonic SPTAN1 NA synonymous SNV SPTAN1:NM_001195532:exon40:c.C5331T:p.T1777T,SPTAN1:NM_003127:exon41:c.C5391T:p.T1797T,SPTAN1:NM_001130438:exon42:c.C5406T:p.T1802T exonic ENSG00000197694 NA synonymous SNV ENSG00000197694:ENST00000372731:exon41:c.C5391T:p.T1797T,ENSG00000197694:ENST00000358161:exon42:c.C5406T:p.T1802T,ENSG00000197694:ENST00000372739:exon42:c.C5406T:p.T1802T NA NA 9q34.11 NA NA NA NA rs2227862 0.65 0.65 0.624 0.617013 0.8827 0.5139 0.781 0.3321 0.7188 0.88 0.5 0.81 0.34 0.7913 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 -1.050975 NA NA 0.903605 0.399455 NA 0.594 NA 3.0890616 1351 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 1351 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 1351 13 73402075 73402075 C T intronic PIBF1 NA NA NA intronic ENSG00000083535 NA NA NA NA NA 13q22.1 NA NA NA NA rs9564921 0.32 0.32 0.301 0.326877 0.2674 0.4325 0.4784 0.0976 0.4816 0.28 0.47 0.44 0.13 0.3446 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.297736 NA NA 0.29907 0.130731 NA 0.239 NA 3.08893 1351 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 1351 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 1351 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 1351 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 1351 16 2871121 2871121 T C intronic PRSS21 NA NA NA UTR3 ENSG00000007038 ENST00000570594:c.*436T>C NA NA NA NA 16p13.3 NA Name=Pol2 NA NA rs11076844 0.72 0.72 0.721 0.726637 0.6839 0.7272 0.7003 0.823 0.6585 0.68 0.74 0.69 0.8 0.7078 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 0.690652 NA NA 0.686628 0.814832 NA 0.609 NA 3.0883387 1351 1 110037838 110037838 T G intronic CYB561D1 NA NA NA intronic ENSG00000174151 NA NA NA NA NA 1p13.3 NA NA NA NA rs749056 0.3 0.3 0.324 0.330871 0.3121 0.0456 0.1931 0.6687 0.2853 0.33 0.04 0.19 0.65 0.2982 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.031942 NA NA 0.301628 0.631866 NA 0.341 NA 3.088072 1351 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 1351 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 1351 7 75614288 75614288 C T intronic POR NA NA NA intronic ENSG00000127948 NA NA NA NA NA 7q11.23 NA NA NA NA rs2286822 0.32 0.32 0.3 0.304313 0.3052 0.4206 0.3905 0.2194 0.2372 0.31 0.41 0.37 0.21 0.3082 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.881769 NA NA 0.29875 0.207143 NA 0.225 NA 3.08785 1351 5 176895818 176895818 C A intronic DBN1 NA NA NA intronic ENSG00000113758 NA NA NA NA NA 5q35.3 NA Name=ZNF263,c-Myc Name=77 NA rs371070 0.85 0.85 0.916 0.911542 0.9751 1 0.9697 0.7126 0.9826 0.87 0.92 0.92 0.68 0.9593 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 -0.468895 NA NA 0.977907 0.743532 NA NA NA 3.087693 1351 5 176895817 176895817 G A intronic DBN1 NA NA NA intronic ENSG00000113758 NA NA NA NA NA 5q35.3 NA Name=ZNF263,c-Myc Name=77 NA rs446104 0.77 0.77 0.911 0.911542 0.9751 1 0.9697 0.7126 0.9826 0.8 0.86 0.85 0.58 0.9593 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 -0.630941 NA NA 0.978023 0.743078 NA NA NA 3.087577 1351 22 23263602 23263602 C T intergenic IGLL5,RTDR1 dist=25589;dist=137991 NA NA exonic ENSG00000211684 NA nonsynonymous SNV ENSG00000211684:ENST00000390330:exon1:c.C41T:p.A14V NA NA 22q11.22 NA Name=ZNF263 NA NA rs373405 0.93 0.93 0.944 0.944489 0.9036 0.9752 0.8977 0.9947 0.9202 0.89 0.98 0.9 0.98 0.9233 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 0.537942 NA NA 0.918961 0.983599 NA 0.986 NA 3.0874724 1351 3 12232074 12232074 A G exonic SYN2 NA unknown UNKNOWN ncRNA_exonic ENSG00000157152 NA NA NA Score=705;Name=lod=973 NA 3p25.2 NA NA NA NA rs310764 0.95 0.95 0.956 0.961062 0.9115 1 0.9524 0.9841 0.9468 0.91 1 0.95 0.98 0.9328 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.372714 1.372714 NA 0.901602 0.975418 NA 0.891 NA 3.0874313 1351 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 1351 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 1351 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 1351 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 1351 2 26537499 26537499 A C intronic GPR113 NA NA NA intronic ENSG00000138018,ENSG00000173567 NA NA NA Score=369;Name=lod=42 NA 2p23.3 NA Name=CTCF NA NA rs10187359 0.94 0.94 0.932 0.916933 0.9791 0.9444 0.951 0.879 0.8517 0.98 0.95 0.95 0.88 0.9538 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 -0.149865 NA NA 0.98093 0.88266 NA 0.92 NA 3.08617 1351 11 65630698 65630698 T G intronic MUS81 NA NA NA intronic ENSG00000172732 NA NA NA NA NA 11q13.1 NA NA Name=10 NA rs538394 0.45 0.45 0.424 0.430112 0.668 0.3323 0.4063 0.208 0.6033 0.67 0.3 0.49 0.25 0.5846 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 0.264769 NA NA 0.661696 0.257727 NA 0.478 NA 3.085704 1351 5 161322889 161322889 G A intronic GABRA1 NA NA NA intronic ENSG00000022355 NA NA NA NA NA 5q34 NA NA NA NA rs2279020 0.58 0.58 0.58 0.596046 0.6362 0.499 0.7061 0.6006 0.5706 0.62 0.46 0.65 0.62 0.6191 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 0.172404 NA NA 0.65907 0.596459 NA 0.688 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079317.1;CLNDSDB=.;CLNDSDBID=. 3.08563 1351 4 109010207 109010207 A G intronic LEF1 NA NA NA intronic ENSG00000138795 NA NA NA NA NA 4q25 NA NA NA NA rs16996935 0.87 0.87 0.824 0.846446 0.9145 0.9722 0.9409 0.5915 0.9243 0.92 0.96 0.96 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 0.333067 NA NA NA NA NA 0.833 NA 3.0855 1351 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 1351 6 167721253 167721253 C G intronic UNC93A NA NA NA intronic ENSG00000112494 NA NA NA NA NA 6q27 NA NA NA NA rs3817768 0.32 0.32 0.266 0.336661 0.2893 0.5298 0.2781 0.1997 0.4131 0.29 0.51 0.27 0.16 0.3168 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.05746 NA NA 0.308488 0.207898 NA 0.297 NA 3.085412 1351 8 10469817 10469817 G A exonic RP1L1 NA synonymous SNV RP1L1:NM_178857:exon4:c.C1791T:p.G597G exonic ENSG00000183638 NA synonymous SNV ENSG00000183638:ENST00000382483:exon4:c.C1791T:p.G597G NA NA 8p23.1 NA NA NA NA rs6996950 0.78 0.78 0.749 0.797324 0.8757 0.6101 0.8372 0.7988 0.8793 0.88 0.61 0.81 0.79 0.8447 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 0.109185 NA NA 0.860946 0.816272 NA 0.848 NA 3.0853206 1351 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 1351 1 203192820 203192820 C T intronic CHIT1 NA NA NA intronic ENSG00000133063 NA NA NA NA NA 1q32.1 NA NA NA NA rs10920586 0.33 0.33 0.294 0.3125 0.3141 0.3532 0.3761 0.2814 0.2658 0.32 0.36 0.36 0.3 0.3167 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521491 NA NA 0.284186 0.278938 NA 0.261 NA 3.085014 1352 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 1352 12 124839945 124839945 T C intronic NCOR2 NA NA NA intronic ENSG00000196498 NA NA NA NA NA 12q24.31 NA NA NA NA rs870052 0.4 0.4 0.354 0.419928 0.2654 0.5913 0.4813 0.3964 0.3906 0.28 0.57 0.43 0.38 0.3722 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.604133 NA NA 0.27798 0.375391 NA 0.312 NA 3.08442 1352 11 47365199 47365199 G A intronic MYBPC3 NA NA NA intronic ENSG00000134571 NA NA NA NA NA 11p11.2 NA NA NA NA rs2856650 0.25 0.25 0.193 0.249601 0.2913 0.2778 0.415 0.0477 0.3333 0.29 0.31 0.36 0.06 0.3159 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.158824 NA NA 0.308399 0.090811 NA 0.348 NA 3.084401 1352 2 85808871 85808871 C T UTR3 VAMP8 NM_003761:c.*32C>T NA NA UTR3 ENSG00000118640 ENST00000432071:c.*32C>T,ENST00000263864:c.*32C>T,ENST00000409760:c.*168C>T NA NA NA NA 2p11.2 NA NA NA NA rs1058588 0.43 0.43 0.392 0.416733 0.4314 0.3859 0.3429 0.5136 0.3548 0.43 0.38 0.41 0.49 0.4057 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.013283 NA NA 0.412209 0.475715 ID=COSN166155;OCCURENCE=1(breast) 0.377 NA 3.0840244 1352 11 70118251 70118251 T G intronic PPFIA1 NA NA NA UTR5 ENSG00000131626 ENST00000532024:c.-28T>G NA NA NA NA 11q13.3 NA NA NA NA rs670012 0.42 0.42 0.442 0.460064 0.3479 0.1458 0.4986 0.8548 0.3384 0.34 0.15 0.47 0.83 0.3876 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 0.700991 NA NA 0.347229 0.7575 NA 0.536 NA 3.0839377 1352 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 1352 19 41083444 41083444 C T intronic SHKBP1 NA NA NA intronic ENSG00000160410 NA NA NA NA NA 19q13.2 NA NA NA NA rs2290682 0.27 0.27 0.242 0.245208 0.332 0.2579 0.2017 0.1876 0.2515 0.34 0.25 0.25 0.19 0.282 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.747198 1.747198 NA 0.303605 0.222424 NA 0.21 NA 3.082395 1352 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 1352 17 56271060 56271060 T C intronic EPX NA NA NA intronic ENSG00000121053 NA NA NA NA NA 17q22 NA NA NA NA rs11079340 0.22 0.22 0.205 0.221845 0.3101 0.0972 0.1931 0.23 0.2689 0.32 0.08 0.19 0.24 0.2902 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100013 NA NA 0.318256 0.275987 NA 0.138 NA 3.081444 1352 11 68566839 68566839 G A intronic CPT1A NA NA NA intronic ENSG00000110090 NA NA NA NA NA 11q13.3 NA NA NA NA rs3019603 0.75 0.75 0.871 0.903554 0.9811 0.8482 0.9251 0.857 0.9284 0.78 0.74 0.8 0.69 0.9375 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 -0.631789 NA NA NA NA NA 0.891 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000079917.1|RCV000124596.1;CLNDSDB=.|.;CLNDSDBID=.|. 3.0814 1352 12 21054369 21054369 G A exonic SLCO1B3 NA synonymous SNV SLCO1B3:NM_019844:exon15:c.G1833A:p.G611G exonic ENSG00000111700,ENSG00000257046 NA synonymous SNV ENSG00000111700:ENST00000544370:exon9:c.G1305A:p.G435G,ENSG00000257046:ENST00000540229:exon13:c.G1833A:p.G611G,ENSG00000111700:ENST00000553473:exon13:c.G1833A:p.G611G,ENSG00000111700:ENST00000261196:exon14:c.G1833A:p.G611G,ENSG00000111700:ENST00000381545:exon15:c.G1833A:p.G611G NA NA 12p12.2 NA NA NA NA rs3764006 0.69 0.69 0.67 0.678714 0.8757 0.7312 0.7882 0.2375 0.9407 0.87 0.72 0.81 0.27 0.8182 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 0.784143 NA NA 0.891395 0.362914 NA 0.703 NA 3.0813716 1352 21 46393090 46393090 C T intronic FAM207A NA NA NA intronic ENSG00000160256 NA NA NA NA NA 21q22.3 NA NA Name=36 NA rs3827260 0.57 0.57 0.556 0.586462 0.6382 0.744 0.5447 0.2897 0.8016 0.64 0.74 0.59 0.27 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 0.190987 NA NA 0.642442 0.314798 NA 0.399 NA 3.081258 1352 8 25325730 25325730 T C intronic CDCA2 NA NA NA intronic ENSG00000184661 NA NA NA NA NA 8p21.2 NA NA NA NA rs11996213 0.29 0.29 0.262 0.283946 0.3052 0.2966 0.268 0.3018 0.2362 0.3 0.3 0.28 0.29 0.3085 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469173 NA NA 0.305233 0.307081 NA 0.203 NA 3.081067 1352 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 1352 22 43575616 43575616 G A intronic TTLL12 NA NA NA intronic ENSG00000100304 NA NA NA NA NA 22q13.2 NA NA NA NA rs4822261 0.17 0.17 0.156 0.147165 0.3211 0.001 0.2911 0.0348 0.1687 0.31 0.0017 0.31 0.06 0.2684 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.39095 NA NA 0.330037 0.077394 NA 0.275 NA 3.080463 1352 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 1352 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 1352 1 166826773 166826773 C T UTR3 TADA1 NM_053053:c.*31G>A NA NA UTR3 ENSG00000152382 ENST00000367874:c.*31G>A NA NA NA NA 1q24.1 NA NA NA NA rs6675153 0.44 0.44 0.448 0.442292 0.4483 0.2996 0.3602 0.6725 0.3303 0.44 0.31 0.4 0.62 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 -0.085715 NA NA 0.405698 0.613255 NA 0.543 NA 3.0797354 1352 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 1352 4 113356495 113356495 G T intronic ALPK1 NA NA NA intronic ENSG00000073331 NA NA NA NA NA 4q25 NA NA NA NA rs11098156 0.32 0.32 0.338 0.327276 0.3091 0.2044 0.2867 0.5386 0.2157 0.29 0.23 0.27 0.5 0.3032 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281516 NA NA 0.308095 0.493645 NA 0.312 NA 3.079605 1352 19 2790394 2790394 G A intronic THOP1 NA NA NA intronic ENSG00000172009 NA NA NA NA NA 19p13.3 NA NA NA NA rs1736176 0.35 0.35 0.347 0.364617 0.2942 0.4911 0.2608 0.4145 0.3129 0.28 0.47 0.24 0.39 0.3297 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.195309 NA NA 0.296512 0.401952 NA 0.355 NA 3.079588 1352 9 442030 442030 C T intronic DOCK8 NA NA NA intronic ENSG00000107099 NA NA NA NA NA 9p24.3 NA NA NA NA rs1887958 0.37 0.37 0.369 0.392772 0.2922 0.4058 0.428 0.4032 0.4438 0.28 0.45 0.41 0.38 0.3516 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.62686 2.62686 NA 0.276628 0.365184 NA 0.297 NA 3.079572 1352 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 1352 2 97747894 97747894 T C intergenic FAM178B,FAHD2B dist=95593;dist=1429 NA NA ncRNA_exonic ENSG00000188383 NA NA NA NA NA 2q11.2 NA NA NA NA rs1257095 0.66 0.66 0.663 0.677516 0.9205 0.4871 0.621 0.91 0.3497 0.8 0.41 0.6 0.76 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 -0.727109 NA NA NA NA NA 0.79 NA 3.0795 1352 12 48145153 48145153 G A intronic RAPGEF3 NA NA NA intronic ENSG00000079337 NA NA NA NA NA 12q13.11 NA NA NA NA rs757287 0.38 0.38 0.353 0.391773 0.2783 0.3819 0.5461 0.4191 0.3722 0.27 0.39 0.52 0.41 0.3564 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43524 NA NA 0.28593 0.412579 NA 0.486 NA 3.07937 1352 20 3211719 3211719 T G intronic SLC4A11 NA NA NA intronic ENSG00000088836 NA NA NA NA NA 20p13 NA NA NA NA rs3803953 0.45 0.45 NA 0.400559 0.4751 0.4544 0.5187 0.3071 0.3108 0.48 0.47 0.53 0.31 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 -0.99671 NA NA NA NA NA 0.333 NA 3.0793 1352 15 33893769 33893769 C T intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA Name=2 NA rs2437135 0.73 0.73 0.727 0.727636 0.6272 0.9365 0.6556 0.6944 0.7117 0.63 0.92 0.65 0.71 0.6682 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 0.399977 NA NA 0.625596 0.702469 NA 0.652 NA 3.079004 1352 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 1352 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 1352 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 1352 12 48145171 48145171 C T intronic RAPGEF3 NA NA NA intronic ENSG00000079337 NA NA NA NA NA 12q13.11 NA NA NA NA rs757286 0.38 0.38 0.34 0.391973 0.2783 0.3819 0.5476 0.4191 0.3722 0.27 0.4 0.52 0.41 0.3557 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.05561 4.05561 NA 0.287674 0.414208 NA 0.478 NA 3.078326 1352 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 1352 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 1352 3 155551206 155551206 C T intronic SLC33A1 NA NA NA intronic ENSG00000169359 NA NA NA NA NA 3q25.31 NA NA NA NA rs7649631 0.41 0.41 0.383 0.476837 0.2883 0.3155 0.4337 0.7844 0.4519 0.28 0.29 0.41 0.74 0.3575 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.361383 NA NA 0.277093 0.660536 NA 0.435 NA 3.077107 1352 3 39178899 39178899 C T intronic TTC21A NA NA NA intronic ENSG00000168026 NA NA NA NA NA 3p22.2 NA NA Name=6 NA rs784495 0.51 0.51 0.498 0.480631 0.6541 0.5724 0.6239 0.0749 0.6544 0.66 0.58 0.61 0.12 0.6235 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 0.484467 NA NA 0.645657 0.167514 NA 0.493 NA 3.076743 1352 11 11972054 11972054 A G intronic USP47 NA NA NA intronic ENSG00000170242 NA NA NA NA NA 11p15.3 NA NA NA NA rs11022090 0.22 0.22 0.199 0.19369 0.327 0.1954 0.2464 0.0363 0.2301 0.34 0.18 0.27 0.06 0.2798 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678581 NA NA 0.316576 0.082679 NA 0.225 NA 3.076624 1352 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 1352 21 43557736 43557736 G A UTR3 UMODL1 NM_001199527:c.*6G>A,NM_001199528:c.*6G>A,NM_001004416:c.*6G>A,NM_173568:c.*6G>A NA NA UTR3 ENSG00000177398 ENST00000400424:c.*6G>A,ENST00000400427:c.*6G>A,ENST00000408910:c.*6G>A,ENST00000408989:c.*6G>A NA NA NA NA 21q22.3 NA NA NA NA rs220178 0.37 0.37 0.359 0.292532 0.4056 0.4762 0.366 0.0908 0.2076 0.39 0.53 0.4 0.13 0.4603 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.616034 NA NA 0.3909 0.13455 NA 0.188 NA 3.0765334 1352 9 136640226 136640226 G A intronic VAV2 NA NA NA intronic ENSG00000160293 NA NA NA NA NA 9q34.2 NA NA NA NA rs2488559 0.8 0.8 0.765 0.783147 0.9235 0.9831 0.8314 0.3707 0.956 0.93 0.98 0.83 0.38 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 -0.681392 NA NA NA NA NA 0.739 NA 3.0765 1352 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 1352 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 1352 10 88024553 88024553 C T intronic GRID1 NA NA NA intronic ENSG00000182771 NA NA NA NA NA 10q23.2 NA NA Name=2 NA rs10887569 0.44 0.44 0.407 0.410942 0.665 0.3254 0.6124 0.0855 0.5348 0.67 0.33 0.6 0.12 0.5902 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 4.433286 4.433286 NA 0.6686 0.193831 NA 0.5 NA 3.0762 1352 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 1352 2 20824658 20824658 G A intronic HS1BP3 NA NA NA intronic ENSG00000118960 NA NA NA NA NA 2p24.1 NA NA NA NA rs10199441 0.4 0.4 0.363 0.424121 0.2873 0.6002 0.4207 0.3548 0.4796 0.29 0.63 0.4 0.31 0.3553 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.979476 1.979476 NA 0.281395 0.340899 NA 0.326 NA 3.076005 1352 20 60882888 60882888 A G intronic ADRM1 NA NA NA intronic ENSG00000130706 NA NA NA Score=412;Name=lod=63 NA 20q13.33 NA Name=Pol2 NA NA rs2427278 0.95 0.95 0.928 0.946685 0.9732 0.9841 0.9784 0.8442 0.9969 0.97 0.98 0.97 0.86 0.9725 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 0.345979 NA NA 0.978429 0.881391 NA 0.681 NA 3.075871 1352 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 1352 5 52322721 52322721 G T intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs26678 0.27 0.27 0.256 0.270567 0.3171 0.2609 0.2608 0.2247 0.3016 0.32 0.26 0.26 0.2 0.2942 0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113748 NA NA 0.312936 0.210945 NA 0.21 NA 3.075764 1352 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 1352 1 248845411 248845411 G A exonic OR14I1 NA synonymous SNV OR14I1:NM_001004734:exon1:c.C195T:p.S65S exonic ENSG00000189181 NA synonymous SNV ENSG00000189181:ENST00000342623:exon1:c.C195T:p.S65S NA NA 1q44 NA NA NA NA rs11485825 0.79 0.79 0.776 0.773163 0.8787 0.872 0.8775 0.503 0.8538 0.88 0.87 0.86 0.52 0.8321 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 -0.224055 NA NA 0.880465 0.562415 NA 0.732 NA 3.0754016 1352 X 49093528 49093528 T C intronic CCDC22 NA NA NA intronic ENSG00000101997 NA NA NA NA NA Xp11.23 NA NA NA NA rs2294016 0.67 0.67 0.66773 NA NA NA NA NA NA 0.37 0.84 0.63 0.95 0.5513 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 0.093989 NA NA 0.373365 0.892047 NA 0.58 NA 3.075335 1353 9 131360750 131360750 C T exonic SPTAN1 NA synonymous SNV SPTAN1:NM_001195532:exon24:c.C3426T:p.L1142L,SPTAN1:NM_001130438:exon25:c.C3486T:p.L1162L,SPTAN1:NM_003127:exon25:c.C3486T:p.L1162L exonic ENSG00000197694 NA synonymous SNV ENSG00000197694:ENST00000358161:exon25:c.C3486T:p.L1162L,ENSG00000197694:ENST00000372731:exon25:c.C3486T:p.L1162L,ENSG00000197694:ENST00000372739:exon25:c.C3486T:p.L1162L NA NA 9q34.11 NA NA NA NA rs2227864 0.67 0.67 0.642 0.642772 0.8847 0.5109 0.7939 0.4198 0.7239 0.88 0.49 0.82 0.44 0.8064 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 0.524352 NA NA 0.901744 0.484567 NA 0.616 NA 3.0738226 1353 20 18462421 18462421 A G exonic POLR3F NA synonymous SNV POLR3F:NM_006466:exon8:c.A840G:p.T280T exonic ENSG00000132664 NA synonymous SNV ENSG00000132664:ENST00000377603:exon8:c.A840G:p.T280T NA NA 20p11.23 NA NA NA NA rs1055171 0.79 0.79 0.785 0.819688 0.8757 0.8145 0.7723 0.7307 0.9213 0.87 0.81 0.77 0.67 0.8459 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 1.00147 NA NA 0.871628 0.747844 NA 0.826 NA 3.0734386 1353 22 25151891 25151891 A C intronic PIWIL3 NA NA NA intronic ENSG00000184571 NA NA NA NA NA 22q11.23 NA NA NA NA rs5751973 NA NA NA 0.438898 0.4066 0.5526 0.33 0.4387 0.4325 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 NA -1.46254 NA NA NA NA NA NA NA 3.0734 1353 2 61417617 61417617 A G intronic USP34 NA NA NA intronic ENSG00000115464 NA NA NA NA NA 2p15 NA NA Name=9 NA rs777591 0.65 0.65 0.637 0.628994 0.6521 0.6766 0.6527 0.5651 0.6258 0.65 0.68 0.65 0.61 0.6433 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.542543 NA NA 0.631302 0.583153 ID=COSN166105;OCCURENCE=1(breast) 0.638 NA 3.073298 1353 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 1353 8 38845638 38845638 A C UTR3 HTRA4 NM_153692:c.*21A>C NA NA UTR3 ENSG00000169495 ENST00000302495:c.*21A>C NA NA NA NA 8p11.22 NA NA NA NA rs66513029 0.5 0.5 0.438 0.458666 0.4354 0.753 0.5245 0.3192 0.3211 0.44 0.73 0.51 0.33 0.433 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 -0.571464 NA NA 0.391901 0.327203 NA 0.5 NA 3.0730324 1353 19 36322509 36322509 G A intronic NPHS1 NA NA NA intronic ENSG00000161270 NA NA NA NA NA 19q13.12 NA NA NA NA rs466452 0.36 0.36 0.371 0.390575 0.3042 0.2411 0.3948 0.6362 0.2986 0.27 0.21 0.41 0.64 0.3353 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.502549 NA NA 0.287558 0.603268 NA 0.471 NA 3.072942 1353 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 1353 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 1353 18 42533130 42533130 A G exonic SETBP1 NA synonymous SNV SETBP1:NM_015559:exon4:c.A3825G:p.S1275S exonic ENSG00000152217 NA synonymous SNV ENSG00000152217:ENST00000282030:exon4:c.A3825G:p.S1275S NA NA 18q12.3 NA NA NA NA rs8096662 0.93 0.93 0.933 0.906949 0.8529 0.9405 0.9496 0.9939 0.7802 0.85 0.97 0.94 0.99 0.8775 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 0.592968 NA NA 0.863837 0.96936 NA 0.884 NA 3.0724296 1353 3 90264768 90264768 A G intergenic EPHA3,NONE dist=733484;dist=NONE NA NA ncRNA_exonic ENSG00000189002 NA NA NA NA NA 3p11.1 NA NA NA NA rs6803112 0.9 0.9 0.896 0.903155 0.9284 0.9008 0.928 0.8419 0.9448 0.93 0.92 0.91 0.84 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 -0.910202 NA NA NA NA NA 0.884 NA 3.0716 1353 17 27530413 27530413 T C intergenic MYO18A,CRYBA1 dist=23006;dist=43462 NA NA downstream ENSG00000178082 NA NA NA NA NA 17q11.2 NA NA NA NA rs12943783 0.44 0.44 0.462 0.45647 0.4284 0.6141 0.33 0.3903 0.502 0.42 0.59 0.33 0.39 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 0.243902 NA NA NA NA NA 0.471 NA 3.0716 1353 17 36003359 36003359 A G intronic DDX52 NA NA NA ncRNA_exonic ENSG00000267668 NA NA NA NA NA 17q12 NA Name=YY1_(C-20),YY1,AP-2gamma,TBP,HA-E2F1,Pol2(phosphoS2),USF-1,Pol2,Pol2-4H8,NFKB,Znf143_(16618-1-AP),TAF1,HEY1 NA NA rs3813910 0.63 0.63 0.609 0.585264 0.7575 0.5615 0.7118 0.4493 0.5266 0.75 0.56 0.72 0.47 0.7111 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 1.171718 NA NA 0.79314 0.539719 NA 0.63 NA 3.0715933 1353 15 56140995 56140995 T A intronic NEDD4 NA NA NA intronic ENSG00000069869 NA NA NA NA NA 15q21.3 NA NA NA NA rs12232351 0.29 0.29 0.293 0.317492 0.2823 0.2937 0.3055 0.264 0.4591 0.28 0.31 0.35 0.26 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 0.932515 NA NA 0.316752 0.27793 NA 0.37 NA 3.071548 1353 5 35033526 35033526 C T intronic AGXT2 NA NA NA intronic ENSG00000113492 NA NA NA NA NA 5p13.2 NA NA NA NA rs2291701 0.23 0.23 0.21 0.180112 0.332 0.1081 0.2262 0.1619 0.09 0.34 0.11 0.28 0.15 0.2655 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.706511 NA NA 0.331047 0.166591 ID=COSN167431;OCCURENCE=1(large_intestine) 0.268 NA 3.071453 1353 15 78278875 78278875 T C intergenic LOC645752,LOC91450 dist=59687;dist=6700 NA NA ncRNA_exonic ENSG00000261143 NA NA NA NA NA 15q24.3 NA NA NA NA rs12913357 0.84 0.84 0.769 0.790136 0.9294 0.9871 0.889 0.553 0.6943 0.92 0.99 0.83 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 0.639298 NA NA NA NA NA 0.558 NA 3.0706 1353 11 44959083 44959083 C G intronic TP53I11 NA NA NA intronic ENSG00000175274 NA NA NA NA NA 11p11.2 NA NA NA NA rs12792390 0.16 0.16 0.134 0.11881 0.3459 0.002 0.1859 0.0227 0.0879 0.35 NA 0.19 0.03 0.248 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.062841 NA NA 0.335543 0.075806 NA 0.225 NA 3.070557 1353 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 1353 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 1353 11 76372418 76372418 T C exonic LRRC32 NA synonymous SNV LRRC32:NM_001128922:exon3:c.A219G:p.T73T,LRRC32:NM_005512:exon3:c.A219G:p.T73T exonic ENSG00000137507 NA synonymous SNV ENSG00000137507:ENST00000260061:exon3:c.A219G:p.T73T,ENSG00000137507:ENST00000404995:exon3:c.A219G:p.T73T,ENSG00000137507:ENST00000407242:exon3:c.A219G:p.T73T,ENSG00000137507:ENST00000421973:exon3:c.A219G:p.T73T NA NA 11q13.5 NA NA NA NA rs3740778 0.85 0.85 0.858 0.880192 0.8588 0.7976 0.7882 0.9924 0.9008 0.86 0.74 0.79 0.99 0.8669 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 -0.087498 NA NA 0.870806 0.967955 ID=COSM1357053;OCCURENCE=1(large_intestine) 0.913 NA 3.0701606 1353 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 1353 15 101597266 101597266 A G intronic LRRK1 NA NA NA ncRNA_intronic ENSG00000259755 NA NA NA NA NA 15q26.3 NA NA NA NA rs2924845 0.57 0.57 0.519 0.54373 0.4076 0.8274 0.6282 0.4576 0.4479 0.4 0.84 0.56 0.53 0.4737 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 0.014962 NA NA 0.381923 0.431136 NA 0.514 NA 3.0701103 1353 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 1353 11 1215580 1215580 A G intergenic MUC2,MUC5B dist=111163;dist=28715 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=53219;dist=28716 NA NA Score=349;Name=lod=35 NA 11p15.5 NA NA NA NA rs1132433 0.44 0.44 0.432 0.490016 0.4066 0.3502 0.4438 0.7012 0.4673 0.4 0.28 0.42 0.71 0.464 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590119 NA NA 0.393677 0.648697 NA 0.449 NA 3.0690564 1353 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 1353 11 35323200 35323200 A G intronic SLC1A2 NA NA NA intronic ENSG00000110436 NA NA NA Score=608;Name=lod=394 NA 11p13 NA NA NA NA rs2273689 0.59 0.59 0.572 0.552915 0.6431 0.7123 0.6268 0.2511 0.6513 0.65 0.73 0.67 0.29 0.6382 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 1.176623 NA NA 0.649953 0.301998 NA 0.413 NA 3.068747 1353 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 1353 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 1353 3 68788363 68788363 G T intronic FAM19A4 NA NA NA intronic ENSG00000163377 NA NA NA NA NA 3p14.1 Score=903;Name=V$SRY_02 NA NA NA rs1504301 0.66 0.66 0.651 0.679313 0.6481 0.8988 0.5937 0.4614 0.8405 0.66 0.9 0.59 0.44 0.66 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 1.764737 1.764737 NA 0.623721 0.456877 NA 0.638 NA 3.068179 1353 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 1353 15 99251356 99251356 C T intronic IGF1R NA NA NA intronic ENSG00000140443 NA NA NA NA NA 15q26.3 NA NA NA NA rs7174918 0.22 0.22 0.213 0.233427 0.3042 0.2341 0.2205 0.1089 0.3374 0.31 0.21 0.2 0.1 0.2907 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.237157 3.237157 NA 0.337215 0.121357 NA 0.29 NA 3.067885 1353 15 45399467 45399467 A G intronic DUOX2 NA NA NA intronic ENSG00000140279 NA NA NA NA NA 15q21.1 NA NA NA NA rs190599 0.85 0.85 0.833 0.838458 0.9324 0.9524 0.8271 0.5923 0.9652 0.93 0.94 0.87 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 -0.282166 NA NA NA NA NA 0.841 NA 3.0676 1353 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 1353 4 151231371 151231371 T C intronic LRBA NA NA NA intronic ENSG00000198589 NA NA NA NA NA 4q31.3 NA NA Name=84 NA rs1813134 0.56 0.56 0.59 0.522963 0.6471 0.4444 0.4841 0.5779 0.4294 0.65 0.46 0.44 0.62 0.6056 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.667796 1.667796 NA 0.680233 0.578756 NA 0.551 NA 3.067067 1353 20 60907675 60907675 G A exonic LAMA5 NA synonymous SNV LAMA5:NM_005560:exon27:c.C3381T:p.A1127A exonic ENSG00000130702 NA synonymous SNV ENSG00000130702:ENST00000252999:exon27:c.C3381T:p.A1127A NA NA 20q13.33 NA NA NA NA rs6142734 0.75 0.75 0.718 0.701278 0.8787 0.9355 0.7781 0.2844 0.7863 0.87 0.95 0.77 0.32 0.8305 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 -0.858805 NA NA 0.890676 0.413589 ID=COSM444171;OCCURENCE=1(breast) 0.609 NA 3.0667906 1353 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 1353 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 1353 13 24243200 24243200 T C exonic TNFRSF19 NA synonymous SNV TNFRSF19:NM_001204459:exon7:c.T813C:p.G271G,TNFRSF19:NM_001204458:exon9:c.T1209C:p.G403G,TNFRSF19:NM_018647:exon9:c.T1209C:p.G403G,TNFRSF19:NM_148957:exon9:c.T1209C:p.G403G exonic ENSG00000127863 NA synonymous SNV ENSG00000127863:ENST00000403372:exon7:c.T813C:p.G271G,ENSG00000127863:ENST00000248484:exon9:c.T1209C:p.G403G,ENSG00000127863:ENST00000382258:exon9:c.T1209C:p.G403G,ENSG00000127863:ENST00000382263:exon9:c.T1209C:p.G403G NA NA 13q12.12 NA NA NA NA rs3751363 0.82 0.82 0.761 0.802716 0.8648 0.8204 0.9107 0.7171 0.7597 0.86 0.8 0.9 0.71 0.8562 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 0.242428 NA NA 0.879186 0.77054 NA 0.667 NA 3.0664806 1353 1 93163385 93163385 A G intronic EVI5 NA NA NA intronic ENSG00000067208 NA NA NA NA NA 1p22.1 NA Name=MafK_(ab50322),MafK_(SC-477) 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 1353 11 118083664 118083664 A G UTR5 AMICA1 NM_153206:c.-32T>C NA NA UTR5 ENSG00000160593 ENST00000292067:c.-32T>C,ENST00000526595:c.-462T>C NA NA NA NA 11q23.3 NA NA Name=11 NA rs1715429 0.78 0.78 0.795 0.810503 0.7346 0.6964 0.7939 0.9395 0.8436 0.74 0.73 0.78 0.93 0.7743 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 -0.18028 NA NA 0.75838 0.911818 NA 0.855 NA 3.0660534 1353 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 1353 15 78189652 78189652 A C intergenic LOC253044,LOC645752 dist=248071;dist=16907 NA NA ncRNA_exonic ENSG00000260139 NA NA NA NA NA 15q24.3 NA NA NA NA rs4243063 0.88 0.88 0.816 0.929313 0.9344 0.999 0.9625 0.8457 0.9417 0.88 0.97 0.92 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 -2.412157 NA NA NA NA NA NA NA 3.0656 1353 10 104851396 104851396 G T intronic NT5C2 NA NA NA intronic ENSG00000076685 NA NA NA NA NA 10q24.32 NA NA NA NA rs11191553 0.27 0.27 0.259 0.26877 0.325 0.2242 0.219 0.3033 0.2454 0.33 0.19 0.23 0.32 0.2884 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.073178 3.073178 NA 0.321005 0.316614 NA 0.232 NA 3.065595 1353 4 121957734 121957734 T C exonic NDNF NA synonymous SNV NDNF:NM_024574:exon4:c.A1392G:p.S464S exonic ENSG00000173376 NA synonymous SNV ENSG00000173376:ENST00000379692:exon4:c.A1392G:p.S464S NA NA 4q27 NA NA NA NA rs1397645 0.85 0.85 0.817 0.821486 0.8668 0.9732 0.8761 0.6142 0.8599 0.88 0.97 0.89 0.64 0.8669 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 0.096099 NA NA 0.867791 0.680436 NA 0.79 NA 3.0651756 1353 10 104855670 104855670 G A intronic NT5C2 NA NA NA intronic ENSG00000076685 NA NA NA NA NA 10q24.32 NA NA NA NA rs1926029 0.27 0.27 0.275 0.268371 0.325 0.2252 0.2176 0.3041 0.2423 0.33 0.19 0.23 0.32 0.2887 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.019759 NA NA 0.321163 0.317295 NA 0.246 NA 3.065137 1354 2 242432704 242432704 G C intronic FARP2 NA NA NA UTR3 ENSG00000115694 ENST00000316586:c.*2373C>G NA NA NA NA 2q37.3 NA NA NA NA rs2271030 0.33 0.33 0.296 0.313698 0.3857 0.249 0.5663 0.2337 0.2352 0.37 0.23 0.54 0.24 0.3528 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.018216 NA NA 0.363488 0.268951 NA 0.333 NA 3.0646787 1354 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 1354 6 70778297 70778297 G A intronic COL19A1 NA NA NA intronic ENSG00000082293 NA NA NA NA NA 6q13 NA NA NA NA rs7349861 0.15 0.15 0.13 0.13758 0.335 0.0119 0.1441 0.0144 0.226 0.35 0.01 0.15 0.02 0.2614 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.110096 NA NA 0.339767 0.061053 NA 0.072 NA 3.063833 1354 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 1354 3 38350479 38350479 T C exonic SLC22A14 NA synonymous SNV SLC22A14:NM_004803:exon4:c.T810C:p.H270H exonic ENSG00000144671 NA synonymous SNV ENSG00000144671:ENST00000273173:exon4:c.T810C:p.H270H,ENSG00000144671:ENST00000448498:exon5:c.T810C:p.H270H NA NA 3p22.2 NA NA NA NA rs818819 0.82 0.82 0.833 0.825879 0.8708 0.7649 0.8055 0.8389 0.8395 0.86 0.77 0.82 0.83 0.8493 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 -0.060435 NA NA 0.883372 0.832728 ID=COSM1179805;OCCURENCE=1(prostate) 0.826 NA 3.0631946 1354 6 116979930 116979930 A G intronic ZUFSP NA NA NA intronic ENSG00000153975 NA NA NA NA NA 6q22.1 NA NA NA NA rs6910565 0.37 0.37 0.4 0.404952 0.2922 0.3056 0.4928 0.5076 0.4223 0.3 0.3 0.45 0.49 0.3662 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.688406 NA NA 0.279032 0.473648 NA 0.457 NA 3.062568 1354 1 16559541 16559541 C G intronic RSG1 NA NA NA intronic ENSG00000132881 NA NA NA NA NA 1p36.13 NA NA NA NA rs3738631 0.31 0.31 0.343 0.308107 0.3042 0.1726 0.2075 0.5923 0.1391 0.29 0.16 0.24 0.58 0.3014 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.112248 NA NA 0.33186 0.553109 NA 0.514 NA 3.06254 1354 21 47783796 47783796 T C exonic PCNT NA synonymous SNV PCNT:NM_006031:exon14:c.T2556C:p.A852A exonic ENSG00000160299 NA synonymous SNV ENSG00000160299:ENST00000359568:exon14:c.T2556C:p.A852A NA NA 21q22.3 NA NA NA NA rs8131546 0.86 0.86 0.864 0.847045 0.8728 0.8026 0.817 0.9228 0.7853 0.87 0.79 0.86 0.92 0.8548 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 0.286854 NA NA 0.876864 0.93 ID=COSM444637;OCCURENCE=1(breast) 0.848 NA 3.0622026 1354 7 107564542 107564542 G T intronic LAMB1 NA NA NA intronic ENSG00000091136,ENSG00000091140 NA NA NA NA NA 7q31.1 NA NA NA NA rs3213674 NA NA NA 0.499601 0.4433 0.5407 0.4885 0.5756 0.4202 NA NA NA NA 0.4947 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.269411 NA NA NA NA NA 0.268 NA 3.062 1354 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 1354 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 1354 3 101571550 101571550 A G intronic NFKBIZ NA NA NA intronic ENSG00000144802 NA NA NA NA NA 3q12.3 NA NA Name=4 NA rs587555 0.55 0.55 0.503 0.508387 0.661 0.4484 0.6859 0.3502 0.501 0.66 0.47 0.69 0.37 0.6109 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 -0.923085 NA NA 0.666279 0.39782 NA 0.551 NA 3.061821 1354 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 1354 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 1354 6 29691391 29691391 T C intronic HLA-F NA NA NA ncRNA_exonic ENSG00000225864 NA NA NA NA NA 6p22.1 NA Name=CTCF,Pol2-4H8 NA NA rs1632954 0.86 0.86 0.495 0.879593 0.8022 0.9831 0.8804 0.8177 0.9356 0.79 0.98 0.86 0.83 0.8472 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 0.305282 NA 0.5 0.622322 0.612546 NA NA NA 3.0616113 1354 13 114774813 114774813 C T intronic RASA3 NA NA NA intronic ENSG00000185989 NA NA NA NA NA 13q34 NA Name=MafK_(ab50322),MafK_(SC-477) NA NA rs6560943 0.7 0.7 0.732 0.717252 0.6441 0.6558 0.647 0.8949 0.6656 0.63 0.67 0.65 0.88 0.6603 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 0.024755 NA NA 0.634101 0.841735 NA 0.674 NA 3.061499 1354 7 21789442 21789442 T C intronic DNAH11 NA NA NA intronic ENSG00000105877 NA NA NA Score=686;Name=lod=817 NA 7p15.3 NA NA NA NA rs4355679 0.44 0.44 0.408 0.435503 0.6849 0.1429 0.5403 0.3321 0.546 0.68 0.14 0.56 0.36 0.5825 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.749191 3.749191 NA 0.671228 0.431207 NA 0.486 NA 3.061372 1354 12 52789605 52789605 T A intronic KRT82 NA NA NA ncRNA_intronic ENSG00000258253 NA NA NA NA NA 12q13.13 NA Name=CTCF,USF2,USF-1,c-Myc,Max NA NA rs1732266 0.81 0.81 0.816 0.826677 0.7336 0.7421 0.8545 0.9486 0.8252 0.73 0.8 0.83 0.91 0.7821 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 1.067718 NA NA 0.756395 0.929641 NA 0.754 NA 3.0612383 1354 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 1354 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 1354 12 52789597 52789597 A G intronic KRT82 NA NA NA ncRNA_intronic ENSG00000258253 NA NA NA NA NA 12q13.13 NA Name=Max,c-Myc,CTCF,USF-1,USF2 NA NA rs1732265 0.81 0.81 0.806 0.826677 0.7336 0.7421 0.8545 0.9486 0.8252 0.73 0.8 0.83 0.91 0.7827 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 0.459131 NA NA 0.756047 0.929641 NA 0.754 NA 3.0609863 1354 10 73822507 73822507 C T UTR3 SPOCK2 NM_014767:c.*11G>A,NM_001244950:c.*11G>A NA NA UTR3 ENSG00000107742 ENST00000536168:c.*11G>A,ENST00000317376:c.*11G>A,ENST00000373109:c.*11G>A NA NA NA NA 10q22.1 NA NA NA NA rs1530803 0.28 0.28 0.282 0.265974 0.4473 0.1339 0.3703 0.1974 0.2342 0.43 0.12 0.35 0.2 0.3794 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.304857 2.304857 NA 0.44593 0.21153 NA 0.406 NA 3.0607034 1354 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 1354 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 1354 X 591926 591926 T G intronic SHOX NA NA NA intronic ENSG00000185960 NA NA NA NA NA Xp22.33 NA Name=SUZ12 NA NA rs2239402 0.96 0.96 0.94913 NA NA NA NA NA NA 0.98 0.94 0.97 0.95 0.9684 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 -0.569952 NA NA 0.971652 0.958674 NA 0.957 NA 3.059948 1354 16 15705605 15705605 A G intronic KIAA0430 NA NA NA intronic ENSG00000166780,ENSG00000166783 NA NA NA NA NA 16p13.11 NA NA Name=40 NA rs7185421 0.65 0.65 0.668 0.710863 0.6153 0.5347 0.7046 0.8812 0.7648 0.62 0.51 0.69 0.84 0.6724 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 0.339155 NA NA 0.652442 0.840464 NA 0.681 NA 3.059858 1354 14 22521051 22521051 G A intergenic OR4E2,DAD1 dist=386813;dist=512756 NA NA exonic ENSG00000211801 NA synonymous SNV ENSG00000211801:ENST00000390449:exon2:c.G72A:p.T24T NA NA 14q11.2 NA NA NA NA rs2072614 0.42 0.42 0.418 0.404553 0.499 0.5079 0.464 0.1846 0.456 0.48 0.5 0.47 0.21 0.4741 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.939794 NA NA 0.467174 0.234943 NA 0.413 NA 3.059726 1354 11 71715215 71715215 C G intronic NUMA1 NA NA NA intronic ENSG00000137496,ENSG00000137497 NA NA NA NA NA 11q13.4 NA NA NA NA rs2845857 0.81 0.81 NA 0.802716 0.9404 0.7738 0.7968 0.7095 0.8211 0.94 0.75 0.8 0.68 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 1.005693 NA NA NA NA NA 0.754 NA 3.0596 1354 17 56388927 56388927 T C intronic BZRAP1 NA NA NA intronic ENSG00000005379 NA NA NA NA NA 17q22 NA NA NA NA rs2072144 0.3 0.3 0.277 0.290535 0.336 0.25 0.2651 0.3306 0.2495 0.32 0.25 0.3 0.33 0.2974 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.899789 1.899789 NA 0.307209 0.336586 NA 0.42 NA 3.059391 1354 13 114792842 114792842 C T intronic RASA3 NA NA NA intronic ENSG00000185989 NA NA NA NA NA 13q34 NA NA Name=73 NA rs3829340 0.7 0.7 0.722 0.71905 0.6451 0.6597 0.647 0.8949 0.6697 0.63 0.67 0.65 0.88 0.6618 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 0.150383 NA NA 0.633721 0.840372 NA 0.674 NA 3.059379 1354 19 46205050 46205050 T C intronic QPCTL NA NA NA intronic ENSG00000011478 NA NA NA NA NA 19q13.32 NA NA Name=3 NA rs4803848 0.72 0.72 0.766 0.750998 0.6093 0.7937 0.5562 0.9637 0.7035 0.61 0.8 0.56 0.93 0.6795 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 0.930794 NA NA 0.651977 0.913981 NA 0.775 NA 3.059223 1354 17 7225149 7225149 C G intronic NEURL4 NA NA NA intronic ENSG00000215041,ENSG00000261915 NA NA NA NA NA 17p13.1 NA NA NA NA rs3809814 0.39 0.39 0.357 NA NA NA NA NA NA 0.47 0.47 0.51 0.1 0.463 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.271919 NA NA 0.477903 0.152227 NA 0.261 NA 3.059097 1354 14 21778792 21778792 T C intronic RPGRIP1 NA NA NA intronic ENSG00000092200 NA NA NA NA NA 14q11.2 NA NA NA NA rs1957414 0.38 0.38 0.383 0.392971 0.2614 0.5704 0.4049 0.3336 0.4172 0.26 0.6 0.38 0.33 0.4193 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.554904 NA NA 0.260424 0.328219 NA 0.362 NA 3.058876 1354 13 114780648 114780648 A C intronic RASA3 NA NA NA intronic ENSG00000185989 NA NA NA NA NA 13q34 NA Name=CTCF,SMC3_(ab9263),Rad21 NA NA rs2274719 0.71 0.71 0.734 0.725839 0.6461 0.6558 0.6585 0.9183 0.6677 0.63 0.67 0.66 0.9 0.6621 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 -0.652772 NA NA 0.63314 0.85497 NA 0.645 NA 3.05866 1354 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 1354 19 8495765 8495765 G A intronic MARCH2 NA NA NA intronic ENSG00000099785 NA NA NA NA NA 19p13.2 NA NA NA NA rs2303180 0.29 0.29 0.258 0.288339 0.3171 0.1736 0.3991 0.2806 0.3088 0.33 0.21 0.34 0.3 0.3452 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.87491 NA NA 0.280624 0.264357 NA 0.261 NA 3.057076 1354 1 112999227 112999227 G A exonic CTTNBP2NL NA synonymous SNV CTTNBP2NL:NM_018704:exon6:c.G1113A:p.Q371Q exonic ENSG00000143079 NA synonymous SNV ENSG00000143079:ENST00000271277:exon6:c.G1113A:p.Q371Q NA NA 1p13.2 NA NA NA NA rs1175641 0.93 0.93 0.928 0.939696 0.8608 1 0.9366 0.9561 0.9387 0.86 1 0.93 0.94 0.8917 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.825108 NA NA 0.857674 0.932592 NA 0.957 NA 3.0564926 1354 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 1354 17 37879762 37879762 G A intronic ERBB2 NA NA NA intronic ENSG00000141736 NA NA NA NA NA 17q12 NA Name=ELF1_(SC-631),TAF1,Pol2-4H8,GABP,ZBTB7A_(SC-34508) 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 1354 1 65325970 65325970 C T intronic JAK1 NA NA NA intronic ENSG00000162434 NA NA NA NA NA 1p31.3 NA NA NA NA rs310224 0.39 0.39 0.386 0.404153 0.2932 0.3065 0.4452 0.6369 0.2751 0.29 0.26 0.43 0.65 0.3568 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.866769 NA NA 0.294459 0.562049 NA 0.442 NA 3.055541 1354 1 44057668 44057668 G T intronic PTPRF NA NA NA intronic ENSG00000142949 NA NA NA NA NA 1p34.2 NA NA NA NA rs7540068 0.28 0.28 0.246 0.281749 0.3191 0.4841 0.2435 0.0666 0.3528 0.33 0.42 0.26 0.08 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 0.723888 NA NA 0.318953 0.109219 NA 0.217 NA 3.055247 1355 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 1355 8 6478956 6478956 A G intronic MCPH1 NA NA NA ncRNA_exonic ENSG00000249898 NA NA NA NA NA 8p23.1 NA NA NA NA rs2936531 0.51 0.51 0.478 0.490415 0.4235 0.6835 0.366 0.4554 0.4959 0.43 0.66 0.4 0.52 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 0.741019 NA NA 0.405777 0.454155 NA 0.674 NA 3.0548563 1355 3 39179909 39179909 G A intronic TTC21A NA NA NA intronic ENSG00000168026 NA NA NA NA NA 3p22.2 NA NA Name=8 NA rs784497 0.55 0.55 0.507 0.533546 0.659 0.7054 0.6513 0.152 0.6595 0.67 0.68 0.62 0.17 0.6321 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.183948 NA NA 0.654161 0.272326 NA 0.514 NA 3.054739 1355 11 552756 552756 T C intronic LRRC56 NA NA NA intronic ENSG00000161328 NA NA NA NA NA 11p15.5 NA NA NA NA rs12361381 0.9 0.9 0.892 0.883586 0.9453 0.9177 0.9553 0.7784 0.8763 0.94 0.91 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 0.318188 NA NA NA NA NA 0.819 NA 3.0547 1355 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 1355 2 168996775 168996775 T C intronic STK39 NA NA NA intronic ENSG00000198648 NA NA NA NA NA 2q24.3 NA NA NA NA rs2278785 0.47 0.47 0.474 0.489217 0.2922 0.6845 0.4366 0.5696 0.4192 0.29 0.67 0.41 0.56 0.3665 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 0.791513 NA NA 0.287369 0.48902 NA 0.486 NA 3.053931 1355 1 65321388 65321388 G A intronic JAK1 NA NA NA intronic ENSG00000162434 NA NA NA NA NA 1p31.3 NA NA NA NA rs310229 0.39 0.39 0.392 0.402556 0.2932 0.3065 0.4467 0.6309 0.274 0.28 0.26 0.44 0.64 0.3574 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202378 NA NA 0.295615 0.564191 NA 0.471 NA 3.053785 1355 5 16699512 16699512 G A intronic MYO10 NA NA NA intronic ENSG00000145555 NA NA NA NA NA 5p15.1 NA NA NA NA rs256930 0.33 0.33 0.329 0.338059 0.3012 0.244 0.2767 0.4455 0.3712 0.3 0.26 0.3 0.45 0.3336 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732361 NA NA 0.311838 0.438574 NA 0.232 NA 3.053362 1355 X 152610051 152610051 A T intronic ZNF275 NA NA NA UTR5 ENSG00000063587 ENST00000370249:c.-2252A>T NA NA NA NA Xq28 NA NA NA NA rs1467880 0.71 0.71 0.6876 NA NA NA NA NA NA 0.51 0.81 0.75 0.85 0.6042 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 -0.556962 NA NA 0.509428 0.80373 NA 0.63 NA 3.0530387 1355 2 176996023 176996023 C T intronic HOXD8 NA NA NA ncRNA_intronic ENSG00000237380 NA NA NA NA NA 2q31.1 NA NA NA NA rs4972804 0.46 0.46 0.383 0.00119808 0.004 NA 0.0014 0.0008 NA 0.67 0.34 0.6 0.15 0.6203 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 -2.25627 NA NA 0.656191 0.243281 NA 0.493 NA 3.0528423 1355 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 1355 7 34697982 34697982 A G ncRNA_UTR5 NPSR1 NA NA NA ncRNA_UTR5 ENSG00000187258 NA NA NA NA NA 7p14.3 NA NA NA NA rs887020 0.52 0.52 0.473 0.487819 0.5278 0.8036 0.5663 0.1089 0.5777 0.53 0.82 0.52 0.16 0.5369 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 -0.654362 NA NA 0.549419 0.178166 NA 0.522 NA 3.0525476 1355 X 152610108 152610108 G C intronic ZNF275 NA NA NA UTR5 ENSG00000063587 ENST00000370249:c.-2195G>C NA NA NA NA Xq28 NA NA NA NA rs1467881 0.71 0.71 0.68839 NA NA NA NA NA NA 0.51 0.81 0.75 0.85 0.6042 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 -2.244408 NA 0.4 0.510697 0.806452 NA 0.63 NA 3.0517697 1355 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 1355 2 217012901 217012901 A G exonic XRCC5 NA synonymous SNV XRCC5:NM_021141:exon14:c.A1572G:p.T524T exonic ENSG00000079246 NA synonymous SNV ENSG00000079246:ENST00000392132:exon14:c.A1572G:p.T524T,ENSG00000079246:ENST00000392133:exon16:c.A1572G:p.T524T NA NA 2q35 NA NA NA NA rs207906 0.89 0.89 0.88 0.882788 0.8748 0.9296 0.9049 0.882 0.8282 0.88 0.94 0.88 0.87 0.871 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 -0.725058 NA NA 0.869302 0.880844 NA 0.913 NA 3.0515646 1355 5 127685624 127685624 C A intronic FBN2 NA NA NA intronic ENSG00000138829 NA NA NA NA NA 5q23.3 NA NA NA NA rs255690 0.21 0.21 0.2 0.192492 0.3191 0.124 0.2709 0.0643 0.2505 0.3 0.11 0.31 0.08 0.2809 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.377196 NA NA 0.348488 0.119383 NA 0.355 NA 3.051512 1355 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 1355 3 49463287 49463287 G A intronic NICN1 NA NA NA intronic ENSG00000145029 NA NA NA NA NA 3p21.31 NA NA NA NA rs6446272 0.25 0.25 0.261 0.217652 0.336 0.0724 0.1744 0.2731 0.2014 0.34 0.09 0.23 0.32 0.2991 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.329696 NA NA 0.313721 0.293236 NA 0.275 NA 3.051179 1355 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 1355 17 3808498 3808498 A C intronic P2RX1 NA NA NA intronic ENSG00000108405 NA NA NA NA NA 17p13.2 NA NA NA NA rs68085968 0.34 0.34 0.311 0.360224 0.3221 0.499 0.3905 0.2171 0.4284 0.29 0.51 0.35 0.21 0.3471 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164976 NA NA 0.28 0.213799 NA NA NA 3.0508 1355 6 161160083 161160083 G A intronic PLG NA NA NA intronic ENSG00000122194 NA NA NA NA NA 6q26 Score=894;Name=V$CREBP1CJUN_01 NA NA NA rs2859879 0.63 0.63 0.629 0.604832 0.6561 0.4821 0.4957 0.8048 0.4857 0.65 0.52 0.53 0.78 0.6148 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 -0.405224 NA NA 0.678488 0.782342 NA 0.638 NA 3.050612 1355 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 1355 X 23689636 23689636 A T intronic PRDX4 NA NA NA intronic ENSG00000123131 NA NA NA NA NA Xp22.11 NA NA NA NA rs513572 0.53 0.53 NA NA NA NA NA NA NA 0.47 0.67 0.55 0.47 0.6038 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 2.844424 2.844424 NA 0.346017 0.373664 NA NA NA 3.050183 1355 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 1355 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 1355 11 117785260 117785260 T C intronic TMPRSS13 NA NA NA intronic ENSG00000137747 NA NA NA NA NA 11q23.3 NA NA NA NA rs4936410 0.24 0.24 0.214 0.222843 0.3469 0.2143 0.3415 0.0802 0.2127 0.35 0.19 0.31 0.07 0.2888 0.35 NA NA 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 0.315046 0.119392 NA 0.254 NA 3.049254 1355 17 3808497 3808497 A G intronic P2RX1 NA NA NA intronic ENSG00000108405 NA NA NA NA NA 17p13.2 NA NA NA NA rs12449598 0.34 0.34 0.312 0.360224 0.3221 0.499 0.3905 0.2171 0.4284 0.29 0.51 0.35 0.21 0.3471 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.585483 NA NA 0.281977 0.214026 NA NA NA 3.048823 1355 4 155242383 155242383 C T intronic DCHS2 NA NA NA intronic ENSG00000197410 NA NA NA NA NA 4q31.3 NA NA NA NA rs62331873 0.27 0.27 0.259 0.261581 0.3161 0.3552 0.2997 0.0552 0.3609 0.33 0.37 0.32 0.05 0.3211 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.474152 2.474152 NA 0.313997 0.097235 ID=COSM149749;OCCURENCE=1(stomach) 0.239 NA 3.048803 1355 4 83857108 83857108 A G intronic LIN54 NA NA NA intronic ENSG00000189308 NA NA NA NA NA 4q21.22 NA NA NA NA rs6535413 0.49 0.49 0.032 0.637181 0.4304 0.7986 0.3487 0.8139 0.6493 0.34 0.67 0.35 0.63 0.4898 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 -0.558525 NA NA 0.031395 0.091693 NA NA NA 3.048405 1355 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 1355 9 37512734 37512734 G A intronic FBXO10 NA NA NA intronic ENSG00000147912 NA NA NA NA NA 9p13.2 NA NA NA NA rs10973387 0.34 0.34 0.313 0.342452 0.2942 0.4097 0.3919 0.3116 0.3292 0.3 0.38 0.37 0.33 0.3456 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.268942 NA NA 0.311942 0.29084 NA 0.246 NA 3.048258 1355 4 20751278 20751278 A G intronic KCNIP4 NA NA NA intronic ENSG00000163138,ENSG00000185774 NA NA NA NA NA 4p15.31 NA NA NA NA rs2322688 0.29 0.29 0.291 0.336861 0.331 0.1726 0.2522 0.4705 0.3916 0.33 0.13 0.28 0.45 0.3096 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.144539 NA NA 0.311628 0.433273 NA 0.486 NA 3.047772 1355 1 206904464 206904464 C T intronic MAPKAPK2 NA NA NA intronic ENSG00000162889 NA NA NA NA NA 1q32.1 NA NA NA NA rs10863805 0.36 0.36 0.339 0.305911 0.3161 0.5387 0.3516 0.1702 0.2065 0.32 0.59 0.33 0.18 0.3197 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.439206 1.439206 NA 0.316512 0.195642 NA 0.239 NA 3.047688 1355 4 83857109 83857109 T A intronic LIN54 NA NA NA intronic ENSG00000189308 NA NA NA NA NA 4q21.22 NA NA NA NA rs6535414 0.49 0.49 0.037 0.637181 0.4304 0.7986 0.3487 0.8139 0.6493 0.34 0.67 0.35 0.63 0.4897 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 0.002499 NA NA 0.032907 0.098275 NA NA NA 3.046993 1355 19 51361644 51361644 A G intronic KLK3 NA NA NA intronic ENSG00000142515 NA NA NA NA NA 19q13.33 NA NA NA NA rs1810020 0.8 0.8 0.785 0.763978 0.9533 0.5546 0.8012 0.8313 0.6677 0.95 0.58 0.83 0.81 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 0.106899 NA NA NA NA NA 0.855 NA 3.0467 1355 7 80091981 80091981 G A intronic GNAT3 NA NA NA intronic ENSG00000135218,ENSG00000214415 NA NA NA NA NA 7q21.11 NA NA NA NA rs799936 0.4 0.4 0.36 0.390775 0.3022 0.6597 0.4193 0.2284 0.4039 0.31 0.67 0.38 0.22 0.3567 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 0.563416 NA NA 0.294484 0.23822 NA 0.341 NA 3.046616 1355 11 47431966 47431966 C T intronic SLC39A13 NA NA NA intronic ENSG00000165915 NA NA NA NA NA 11p11.2 NA NA NA NA rs755555 0.29 0.29 0.266 0.273363 0.3241 0.2589 0.4222 0.1309 0.3231 0.32 0.32 0.38 0.14 0.3073 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.199044 NA NA 0.322243 0.164471 NA 0.37 NA 3.046357 1355 9 127975583 127975583 T C intronic RABEPK NA NA NA intronic ENSG00000136933 NA NA NA NA NA 9q33.3 NA NA NA NA rs359588 0.97 0.97 0.983 0.982029 0.9543 1 0.9597 0.9947 0.9908 0.95 1 0.95 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 0.687703 NA NA NA NA NA 0.957 NA 3.0457 1355 22 26895337 26895337 G A exonic TFIP11 NA synonymous SNV TFIP11:NM_012143:exon9:c.C1062T:p.H354H,TFIP11:NM_001008697:exon10:c.C1062T:p.H354H exonic ENSG00000100109 NA synonymous SNV ENSG00000100109:ENST00000407148:exon8:c.C1062T:p.H354H,ENSG00000100109:ENST00000407431:exon8:c.C1062T:p.H354H,ENSG00000100109:ENST00000407690:exon9:c.C1062T:p.H354H,ENSG00000100109:ENST00000405938:exon10:c.C1062T:p.H354H NA NA 22q12.1 NA NA NA NA rs1008530 0.8 0.8 0.78 0.777556 0.8926 0.8254 0.8098 0.5734 0.863 0.91 0.81 0.8 0.6 0.855 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 0.711539 NA NA 0.873372 0.594417 NA 0.761 NA 3.0456946 1355 11 18735396 18735396 G T intronic IGSF22 NA NA NA ncRNA_intronic ENSG00000254966 NA NA NA Score=358;Name=lod=38 NA 11p15.1 NA NA NA NA rs10741752 0.79 0.79 0.77 0.75639 0.7803 0.8125 0.7118 0.8502 0.5787 0.78 0.81 0.73 0.85 0.7541 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 -0.005476 NA NA 0.753555 0.820123 NA 0.594 NA 3.0453783 1355 19 54308554 54308554 C T exonic NLRP12 NA synonymous SNV NLRP12:NM_001277126:exon5:c.G2397A:p.Q799Q,NLRP12:NM_001277129:exon5:c.G2394A:p.Q798Q,NLRP12:NM_144687:exon5:c.G2394A:p.Q798Q exonic ENSG00000142405 NA synonymous SNV ENSG00000142405:ENST00000324134:exon5:c.G2394A:p.Q798Q,ENSG00000142405:ENST00000345770:exon5:c.G2397A:p.Q799Q,ENSG00000142405:ENST00000351894:exon5:c.G2394A:p.Q798Q,ENSG00000142405:ENST00000354278:exon5:c.G2394A:p.Q798Q,ENSG00000142405:ENST00000391772:exon5:c.G2397A:p.Q799Q,ENSG00000142405:ENST00000391773:exon5:c.G2397A:p.Q799Q,ENSG00000142405:ENST00000391775:exon5:c.G2394A:p.Q798Q,ENSG00000142405:ENST00000535162:exon5:c.G2394A:p.Q798Q NA NA 19q13.42 NA NA NA NA rs4806773 0.82 0.82 0.806 0.80631 0.8907 0.7361 0.8631 0.7678 0.8037 0.9 0.71 0.86 0.79 0.8474 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 0.013042 NA NA 0.883256 0.799591 NA 0.819 NA 3.0453106 1356 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 1356 1 38181503 38181503 C T downstream EPHA10 NA NA NA intronic ENSG00000183317 NA NA NA NA NA 1p34.3 NA NA NA NA rs7512242 0.22 0.22 0.216 0.224641 0.2893 0.1935 0.2478 0.1649 0.2546 0.27 0.19 0.27 0.17 0.2451 0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.582759 NA NA 0.254646 0.174658 NA 0.232 NA 3.0442873 1356 X 23689637 23689637 T C intronic PRDX4 NA NA NA intronic ENSG00000123131 NA NA NA NA NA Xp22.11 NA NA NA NA rs513573 0.53 0.53 NA NA NA NA NA NA NA 0.46 0.67 0.55 0.46 0.604 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 2.558217 2.558217 NA 0.351813 0.378618 NA NA NA 3.044187 1356 8 2799981 2799981 G C intronic CSMD1 NA NA NA intronic ENSG00000183117 NA NA NA NA NA 8p23.2 NA NA NA NA rs6997981 0.28 0.28 0.278 0.253594 0.326 0.2887 0.2637 0.2088 0.1963 0.34 0.3 0.25 0.2 0.2961 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.070638 NA NA 0.333858 0.212586 ID=COSN168255;OCCURENCE=1(large_intestine) 0.312 NA 3.044042 1356 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 1356 17 39871700 39871700 G A exonic GAST NA synonymous SNV GAST:NM_000805:exon2:c.G12A:p.L4L exonic ENSG00000184502 NA synonymous SNV ENSG00000184502:ENST00000329402:exon2:c.G12A:p.L4L NA NA 17q21.2 NA NA NA NA rs7220169 0.84 0.84 0.846 0.847045 0.8907 0.9028 0.8156 0.7209 0.9376 0.89 0.9 0.85 0.7 0.8516 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 -0.28767 NA NA 0.881279 0.761235 NA 0.841 NA 3.0430876 1356 5 179153797 179153797 C T intronic CANX NA NA NA intronic ENSG00000127022 NA NA NA NA NA 5q35.3 NA NA NA NA rs7734102 0.24 0.24 0.238 0.21865 0.3469 0.1567 0.255 0.1785 0.1789 0.36 0.14 0.26 0.17 0.2741 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.983871 NA NA 0.33593 0.228779 NA 0.261 NA 3.04307 1356 20 13845987 13845987 C T intronic SEL1L2 NA NA NA intronic ENSG00000101251 NA NA NA Score=713;Name=lod=1055 NA 20p12.1 NA NA Name=6 NA rs761811 1 1 0.993 0.99401 0.9831 1 0.9971 0.9955 0.9949 0.99 1 1 1 0.9894 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.31346 1.31346 NA 0.984455 0.994327 NA 0.993 NA 3.043045 1356 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 1356 6 11190626 11190626 A G exonic NEDD9 NA synonymous SNV NEDD9:NM_001271033:exon4:c.T1029C:p.V343V,NEDD9:NM_006403:exon5:c.T1476C:p.V492V,NEDD9:NM_001142393:exon6:c.T1476C:p.V492V exonic ENSG00000111859 NA synonymous SNV ENSG00000111859:ENST00000379446:exon5:c.T1476C:p.V492V,ENSG00000111859:ENST00000504387:exon6:c.T1476C:p.V492V NA NA 6p24.2 NA NA NA NA rs941982 0.92 0.92 0.929 0.942692 0.8648 0.998 0.9179 0.9523 0.9703 0.87 1 0.89 0.95 0.8971 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.135042 NA NA 0.86186 0.924875 NA 0.862 NA 3.0429066 1356 17 65955651 65955651 T C intronic BPTF NA NA NA intronic ENSG00000171634 NA NA NA NA NA 17q24.2 NA Name=CTCF Name=8 NA rs8068790 0.89 0.89 0.856 0.874201 0.997 1 0.9712 0.5408 1 1 1 0.96 0.55 0.9621 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.048297 2.048297 NA 0.998488 0.623751 NA 0.833 NA 3.042412 1356 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 1356 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 1356 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 1356 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 1356 4 69344733 69344733 G T intronic TMPRSS11E NA NA NA intronic ENSG00000087128 NA NA NA NA NA 4q13.2 NA NA Name=2 NA rs2603180 0.7 0.7 0.69 0.725839 0.6302 0.8542 0.7565 0.643 0.7822 0.63 0.84 0.74 0.63 0.6847 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 -0.13116 NA NA 0.644302 0.613028 NA 0.739 NA 3.040798 1356 10 50944009 50944009 T C intronic OGDHL NA NA NA intronic ENSG00000197444 NA NA NA NA NA 10q11.23 NA NA NA NA rs1258257 0.91 0.91 0.905 0.895767 0.9602 0.9732 0.9597 0.7095 0.956 0.96 0.98 0.96 0.73 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 0.488623 NA NA NA NA NA 0.855 NA 3.0398 1356 1 201052474 201052474 T C intronic CACNA1S NA NA NA intronic ENSG00000081248 NA NA NA NA NA 1q32.1 NA NA NA NA rs12724643 0.17 0.17 0.157 0.127196 0.34 0.001 0.2032 0.0257 0.1217 0.35 0.0017 0.27 0.04 0.2443 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.817123 NA NA 0.376279 0.076487 NA 0.254 NA 3.039421 1356 22 47083012 47083012 T A UTR3 CERK NM_022766:c.*19A>T NA NA UTR3 ENSG00000100422 ENST00000216264:c.*19A>T,ENST00000443629:c.*1011A>T,ENST00000541677:c.*19A>T NA NA NA NA 22q13.31 NA NA NA NA rs2748349 0.48 0.48 0.471 0.480831 0.4334 0.381 0.549 0.6498 0.3558 0.43 0.38 0.56 0.6 0.4369 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.497008 NA NA 0.423837 0.627099 NA NA NA 3.0391964 1356 4 39000569 39000569 C T intronic TMEM156 NA NA NA intronic ENSG00000121895 NA NA NA NA NA 4p14 NA NA NA NA rs73236699 0.3 0.3 0.283 0.290935 0.338 0.4087 0.2767 0.118 0.365 0.34 0.42 0.28 0.14 0.3115 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.140009 NA NA 0.311334 0.131938 NA 0.37 NA 3.039166 1356 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 1356 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 1356 21 40642386 40642386 A G intronic BRWD1 NA NA NA intronic ENSG00000185658 NA NA NA NA NA 21q22.2 NA NA NA NA rs2836968 0.22 0.22 0.229 0.213458 0.3181 0.0367 0.2176 0.2927 0.1779 0.32 0.03 0.25 0.28 0.2948 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.813926 NA NA 0.348453 0.301227 NA 0.283 NA 3.038647 1356 16 3117354 3117354 T A intronic IL32 NA NA NA intronic ENSG00000008517 NA NA NA NA NA 16p13.3 NA NA NA NA rs1555001 0.33 0.33 0.305 0.353035 0.2952 0.376 0.4049 0.1596 0.6135 0.31 0.44 0.38 0.17 0.362 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.092522 NA NA 0.304767 0.204825 NA 0.239 NA 3.038033 1356 15 49422885 49422885 T G intronic COPS2 NA NA NA intronic ENSG00000166200 NA NA NA NA NA 15q21.1 NA NA NA NA rs2289389 0.19 0.19 0.187 0.158946 0.333 0.1042 0.1873 0.0424 0.1738 0.34 0.09 0.21 0.05 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 0.886573 NA NA 0.357825 0.087204 NA 0.159 NA 3.037975 1356 3 168819788 168819788 A G intronic MECOM NA NA NA intronic ENSG00000085276 NA NA NA NA NA 3q26.2 NA NA NA NA rs9290358 0.95 0.95 0.943 0.943291 0.9622 0.994 0.9755 0.8638 0.956 0.96 0.99 0.97 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 -0.901609 NA NA NA NA NA 0.949 NA 3.0378 1356 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 1356 6 31130502 31130502 T C UTR3 TCF19 NM_001077511:c.*8T>C,NM_007109:c.*8T>C NA NA UTR3 ENSG00000137310 ENST00000376257:c.*8T>C,ENST00000376255:c.*8T>C NA NA NA NA 6p21.33 NA Name=Pol2-4H8,Pol2 NA NA rs1065461 0.77 0.77 0.75 0.769169 0.7843 0.6766 0.8141 0.8691 0.682 0.78 0.63 0.83 0.87 0.754 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 0.872264 NA NA 0.75735 0.864681 NA 0.775 NA 3.0376834 1356 11 65637984 65637984 C G intronic EFEMP2 NA NA NA intronic ENSG00000172638 NA NA NA NA NA 11q13.1 NA Name=Pol2 NA NA rs630394 0.48 0.48 0.473 0.485024 0.672 0.2817 0.4568 0.4032 0.6329 0.68 0.24 0.52 0.43 0.6041 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 0.559284 NA NA 0.686336 0.481372 NA 0.464 NA 3.037564 1356 X 70321631 70321631 T G intronic FOXO4 NA NA NA intronic ENSG00000184481 NA NA NA NA NA Xq13.1 NA NA NA NA rs5980742 0.56 0.56 0.54452 NA NA NA NA NA NA 0.47 0.34 0.62 0.91 0.5027 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 -2.073158 NA NA 0.459745 0.886486 NA 0.486 NA 3.037555 1356 14 61278684 61278684 A G intronic MNAT1 NA NA NA intronic ENSG00000020426 NA NA NA NA NA 14q23.1 NA NA NA NA rs2020892 0.22 0.22 0.174 0.234425 0.3221 0.1111 0.4856 0.0303 0.3691 0.33 0.09 0.42 0.03 0.3168 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.233393 NA NA 0.323988 0.073288 NA 0.304 NA 3.037112 1356 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 1356 15 40699940 40699940 T C intronic IVD NA NA NA intronic ENSG00000128928 NA NA NA NA NA 15q15.1 NA NA NA NA rs2289331 0.66 0.66 0.607 0.647963 0.6272 0.7768 0.7104 0.4523 0.7566 0.66 0.81 0.69 0.48 0.6838 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 1.273804 1.273804 NA 0.652209 0.48502 NA 0.594 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079997.1;CLNDSDB=.;CLNDSDBID=. 3.036791 1356 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 1356 6 151914421 151914421 A G intronic CCDC170 NA NA NA intronic ENSG00000120262 NA NA NA NA NA 6q25.1 NA NA NA NA rs9383930 0.56 0.56 0.574 0.58107 0.2843 0.8333 0.4841 0.823 0.3681 0.27 0.81 0.46 0.79 0.393 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 0.910812 NA NA 0.286133 0.746923 NA 0.529 NA 3.036567 1356 22 44372069 44372069 G A intronic SAMM50 NA NA NA intronic ENSG00000100347 NA NA NA NA NA 22q13.31 NA NA NA NA rs2073084 0.46 0.46 0.473 0.488019 0.326 0.4613 0.3905 0.6785 0.4939 0.33 0.5 0.36 0.67 0.3662 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 -0.363084 NA NA 0.271395 0.605992 ID=COSM149310;OCCURENCE=1(stomach) 0.464 NA 3.036405 1356 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 1356 12 48877056 48877056 T C UTR5 C12orf54 NM_152319:c.-24T>C NA NA UTR5 ENSG00000177627 ENST00000314014:c.-24T>C,ENST00000548364:c.-24T>C,ENST00000380491:c.-24T>C NA NA NA NA 12q13.11 NA NA NA NA rs7972785 0.28 0.28 0.26 0.232827 0.4473 0.1488 0.2767 0.0431 0.3241 0.47 0.18 0.31 0.07 0.3801 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.666772 3.666772 NA 0.470349 0.108034 NA 0.319 NA 3.0355844 1356 4 155226421 155226421 C A intronic DCHS2 NA NA NA intronic ENSG00000197410 NA NA NA NA NA 4q31.3 NA NA NA NA rs12507663 0.27 0.27 0.26 0.262979 0.3161 0.3562 0.2997 0.0613 0.3589 0.33 0.37 0.32 0.05 0.3287 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.336119 1.336119 NA 0.319869 0.103872 NA 0.239 NA 3.035331 1357 19 17651370 17651370 A G exonic FAM129C NA synonymous SNV FAM129C:NM_001098524:exon10:c.A1242G:p.S414S,FAM129C:NM_173544:exon10:c.A1242G:p.S414S exonic ENSG00000167483 NA synonymous SNV ENSG00000167483:ENST00000449408:exon8:c.A420G:p.S140S,ENSG00000167483:ENST00000599124:exon9:c.A1149G:p.S383S,ENSG00000167483:ENST00000599164:exon9:c.A1149G:p.S383S,ENSG00000167483:ENST00000600519:exon9:c.A1149G:p.S383S,ENSG00000167483:ENST00000600871:exon9:c.A1080G:p.S360S,ENSG00000167483:ENST00000601861:exon9:c.A1149G:p.S383S,ENSG00000167483:ENST00000300971:exon10:c.A1242G:p.S414S,ENSG00000167483:ENST00000332386:exon10:c.A1242G:p.S414S,ENSG00000167483:ENST00000335393:exon10:c.A1242G:p.S414S,ENSG00000167483:ENST00000352727:exon10:c.A1242G:p.S414S,ENSG00000167483:ENST00000595684:exon10:c.A1242G:p.S414S NA NA 19p13.11 NA NA NA NA rs11878663 0.8 0.8 0.798 0.830072 0.8907 0.5714 0.8963 0.9743 0.7924 0.87 0.5 0.89 0.96 0.8547 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 1.163452 NA NA 0.886332 0.96209 ID=COSM1480754,COSM438911;OCCURENCE=1(breast) 0.797 NA 3.0349346 1357 16 28631360 28631360 A T intronic SULT1A1 NA NA NA intronic ENSG00000196502 NA NA NA Score=476;Name=lod=115 NA 16p11.2 NA NA NA NA rs28410083 0.69 0.69 0.647 0.675919 0.6779 0.9256 0.5634 0.4592 0.7894 0.66 0.91 0.65 0.49 0.6521 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 0.757431 NA NA 0.635233 0.4736 NA 0.703 NA 3.034767 1357 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 1357 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 1357 19 11558240 11558240 T C intronic PRKCSH NA NA NA intronic ENSG00000130175 NA NA NA NA NA 19p13.2 NA Name=ZNF263 NA NA rs186375 0.99 0.99 0.996 0.994609 0.9841 1 0.9914 0.9992 0.9959 0.98 1 1 1 0.9922 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.193314 NA NA 0.9893 0.998184 NA 0.899 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080026.1;CLNDSDB=.;CLNDSDBID=. 3.0344 1357 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 1357 12 6230288 6230288 A G intronic VWF NA NA NA intronic ENSG00000110799 NA NA NA NA NA 12p13.31 NA NA Name=6 NA rs6489694 0.92 0.92 0.987 0.993211 0.9841 1 0.9957 1 0.9847 0.91 0.94 0.95 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 0.767502 NA NA 0.982923 0.997146 NA 0.986 NA 3.032977 1357 19 42848764 42848764 A G intronic MEGF8 NA NA NA intronic ENSG00000105429 NA NA NA Score=259;Name=lod=15 NA 19q13.2 NA NA NA NA rs874002 0.82 0.82 0.797 0.878395 0.6054 1 0.7997 0.9894 0.9397 0.59 1 0.75 0.99 0.7399 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385903 NA NA 0.621971 0.920537 NA 0.79 NA 3.032729 1357 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 1357 19 10444826 10444826 G A intronic ICAM3 NA NA NA intronic ENSG00000076662 NA NA NA NA NA 19p13.2 NA Name=FOXA1_(SC-101058),FOXA1_(C-20),ETS1,FOXA2_(SC-6554),ZNF263,ZBTB7A_(SC-34508) NA NA rs2278442 0.67 0.67 0.648 0.673323 0.6581 0.744 0.7277 0.5983 0.6789 0.66 0.74 0.73 0.58 0.6657 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.814854 NA NA 0.643721 0.613482 NA 0.725 NA 3.032479 1357 2 61235855 61235855 C A intronic PUS10 NA NA NA intronic ENSG00000162927 NA NA NA NA NA 2p16.1 NA NA NA NA rs1182688 0.37 0.37 0.37 0.320687 0.3141 0.4325 0.4193 0.289 0.1851 0.32 0.44 0.41 0.33 0.3256 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.168911 NA NA 0.328158 0.278514 NA 0.341 NA 3.032142 1357 10 97370989 97370989 T A intronic ALDH18A1 NA NA NA intronic ENSG00000059573 NA NA NA NA NA 10q24.1 NA NA NA NA rs2296691 0.21 0.21 0.173 0.20008 0.3111 0.0377 0.4438 0.1014 0.2137 0.31 0.05 0.42 0.09 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 0.593353 NA NA 0.358023 0.134816 NA 0.217 NA 3.031877 1357 15 78633595 78633595 T G intronic CRABP1 NA NA NA exonic ENSG00000166426 NA unknown UNKNOWN NA NA 15q25.1 NA NA Name=7 NA rs2139440 0.79 0.79 0.8 0.81869 0.8012 0.6716 0.8184 0.9554 0.8037 0.8 0.65 0.8 0.95 0.8328 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 1.974329 1.974329 NA 0.834149 0.938696 NA 0.696 NA 3.031851 1357 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 1357 10 21141469 21141469 T C intronic NEBL NA NA NA intronic ENSG00000078114 NA NA NA NA NA 10p12.31 Score=915;Name=V$AREB6_01 NA NA NA rs703089 0.96 0.96 0.977 0.952476 0.998 0.9117 0.8357 0.9811 0.9918 1 0.92 0.9 0.98 0.9709 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225384 NA NA 0.999419 0.9798 NA 0.978 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000038676.1|RCV000127177.1;CLNDSDB=.|.;CLNDSDBID=.|. 3.031681 1357 22 47083010 47083010 T C UTR3 CERK NM_022766:c.*21A>G NA NA UTR3 ENSG00000100422 ENST00000216264:c.*21A>G,ENST00000443629:c.*1013A>G,ENST00000541677:c.*21A>G NA NA NA NA 22q13.31 NA NA NA NA rs2542014 0.51 0.51 0.512 0.510583 0.4334 0.381 0.5476 0.7632 0.3558 0.43 0.38 0.56 0.72 0.4448 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.653054 NA NA 0.423721 0.713345 NA 0.051 NA 3.0314124 1357 4 153252061 153252061 A G intronic FBXW7 NA NA NA intronic ENSG00000109670 NA NA NA NA NA 4q31.3 NA NA NA NA rs10033601 0.45 0.45 0.476 0.48123 0.3002 0.4484 0.4539 0.7133 0.407 0.29 0.45 0.41 0.72 0.3729 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.359057 1.359057 NA 0.296047 0.644641 NA 0.58 NA 3.030853 1357 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 1357 Y 15027529 15027529 T G intronic DDX3Y NA NA NA intronic ENSG00000067048 NA NA NA NA NA Yq11.21 NA NA NA NA rs2032636 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.9692 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 -1.365632 NA NA NA NA NA 0.246 NA 3.0308 1357 16 23117706 23117706 C T intronic USP31 NA NA NA intronic ENSG00000103404 NA NA NA NA NA 16p12.2 NA NA NA NA rs17740615 0.29 0.29 0.272 0.295327 0.334 0.1577 0.4049 0.3464 0.2505 0.33 0.18 0.36 0.33 0.3182 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063202 NA NA 0.317093 0.347292 NA 0.167 NA 3.030707 1357 8 27957313 27957313 A G intronic ELP3 NA NA NA intronic ENSG00000134014 NA NA NA NA NA 8p21.1 NA NA NA NA rs2290371 0.29 0.29 0.279 0.270168 0.339 0.251 0.3228 0.1596 0.3313 0.33 0.3 0.31 0.18 0.3092 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.458536 NA NA 0.321279 0.192465 NA 0.297 NA 3.030521 1357 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 1357 3 121631841 121631841 G A intronic SLC15A2 NA NA NA intronic ENSG00000163406 NA NA NA NA NA 3q13.33 NA NA NA NA rs1523519 0.26 0.26 0.233 0.259585 0.334 0.1726 0.4035 0.1747 0.2853 0.34 0.15 0.41 0.15 0.3167 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.638507 1.638507 NA 0.32 0.192465 NA 0.174 NA 3.0293 1357 1 223934720 223934720 G A exonic CAPN2 NA synonymous SNV CAPN2:NM_001146068:exon5:c.G348A:p.A116A,CAPN2:NM_001748:exon5:c.G582A:p.A194A exonic ENSG00000162909 NA synonymous SNV ENSG00000162909:ENST00000295006:exon5:c.G582A:p.A194A,ENSG00000162909:ENST00000433674:exon5:c.G348A:p.A116A,ENSG00000162909:ENST00000434648:exon5:c.G348A:p.A116A NA NA 1q41 NA NA NA NA rs17600 0.69 0.69 0.662 0.683906 0.9016 0.7143 0.7233 0.289 0.9346 0.9 0.72 0.76 0.31 0.8303 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 -0.645766 NA NA 0.905581 0.404222 NA 0.645 NA 3.0291856 1357 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 1357 19 18707878 18707878 A C intronic CRLF1 NA NA NA intronic ENSG00000006016 NA NA NA NA NA 19p13.11 NA Name=SP2_(SC-643),HEY1,ELF1_(SC-631),Pol2,E2F6_(H-50),E2F6,ZBTB7A_(SC-34508),CCNT2 NA NA rs7247346 0.74 0.74 0.716 0.720647 0.6441 0.6895 0.6729 0.9629 0.5378 0.66 0.68 0.68 0.96 0.6668 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 0.630139 NA NA 0.660364 0.907619 NA 0.63 NA 3.028736 1357 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 1357 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 1357 12 51089572 51089572 G A intronic DIP2B NA NA NA intronic ENSG00000066084 NA NA NA NA NA 12q13.12 NA NA NA NA rs2684890 0.8 0.8 0.791 0.794329 0.9722 0.6627 0.7968 0.7284 0.8344 0.97 0.64 0.81 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 -0.446969 NA NA NA NA NA 0.841 NA 3.0278 1357 4 3521939 3521939 T A intronic LRPAP1 NA NA NA intronic ENSG00000163956 NA NA NA NA NA 4p16.3 NA NA NA NA rs1741547 0.37 0.37 0.358 0.409345 0.2843 0.4097 0.5231 0.3699 0.5102 0.29 0.38 0.48 0.42 0.3767 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581588 NA NA 0.311279 0.329324 NA 0.384 NA 3.027721 1357 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 1357 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 1357 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 1357 X 57474943 57474943 A T intronic FAAH2 NA NA NA intronic ENSG00000165591 NA NA NA NA NA Xp11.21 NA NA NA NA rs1821118 0.92 0.92 0.91415 NA NA NA NA NA NA 1 1 0.96 0.69 0.9737 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.74483 NA NA 0.999108 0.737679 NA 0.667 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082704.1;CLNDSDB=.;CLNDSDBID=. 3.027192 1357 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 1357 1 12567232 12567232 A G intronic VPS13D NA NA NA intronic ENSG00000048707 NA NA NA NA NA 1p36.22 NA NA NA NA rs7554257 0.98 0.98 0.991 0.989617 0.9732 0.997 0.9899 0.9977 0.9877 0.97 1 0.99 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 -0.705585 NA NA NA NA NA 0.993 NA 3.0268 1357 20 25193863 25193863 T C intronic ENTPD6 NA NA NA intronic ENSG00000197586 NA NA NA NA NA 20p11.21 NA NA NA NA rs2076560 0.33 0.33 0.315 0.292133 0.3449 0.5913 0.2205 0.034 0.3292 0.34 0.6 0.25 0.05 0.3074 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.62821 NA NA 0.321163 0.078302 NA 0.304 NA 3.026537 1357 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 1357 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 1357 12 31545381 31545381 A G intronic DENND5B NA NA NA intronic ENSG00000170456 NA NA NA NA NA 12p11.21 NA NA NA NA rs792874 0.94 0.94 0.922 0.921126 0.9742 0.994 0.9683 0.7731 0.9581 0.98 0.99 0.97 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 3.349565 3.349565 NA NA NA NA 0.92 NA 3.0258 1357 12 133202215 133202215 G A intronic POLE NA NA NA intronic ENSG00000177084 NA NA NA NA NA 12q24.33 NA NA NA NA rs5745075 0.45 0.45 0.431 0.423323 0.3052 0.6657 0.4452 0.3555 0.3712 0.32 0.69 0.45 0.36 0.3703 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 -0.817715 NA NA 0.298837 0.362233 NA 0.319 NA 3.025663 1357 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 1358 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 1358 10 135205009 135205009 C G exonic PAOX NA synonymous SNV PAOX:NM_207128:exon6:c.C1428G:p.P476P exonic ENSG00000148832 NA synonymous SNV ENSG00000148832:ENST00000357296:exon6:c.C1428G:p.P476P NA NA 10q26.3 NA NA NA NA rs1046178 0.86 0.86 0.843 0.845847 0.8777 0.9812 0.8948 0.6785 0.865 0.89 0.97 0.86 0.67 0.8856 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 -0.244363 NA NA 0.878802 0.740861 NA 0.906 NA 3.0245646 1358 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 1358 8 142490079 142490079 G A exonic MROH5 NA unknown UNKNOWN exonic ENSG00000226807 NA unknown UNKNOWN NA NA 8q24.3 Score=707;Name=V$NRSF_01 NA NA NA rs2613641 0.96 0.96 0.964 0.935703 0.999 0.9921 0.9798 0.7776 0.9949 1 1 0.99 0.83 0.98 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.487073 NA NA 0.997254 0.814704 NA 0.92 NA 3.023746 1358 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 1358 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 1358 9 136412236 136412236 A T exonic ADAMTSL2 NA synonymous SNV ADAMTSL2:NM_001145320:exon9:c.A840T:p.A280A,ADAMTSL2:NM_014694:exon9:c.A840T:p.A280A exonic ENSG00000197859 NA synonymous SNV ENSG00000197859:ENST00000354484:exon9:c.A840T:p.A280A,ENSG00000197859:ENST00000393060:exon9:c.A840T:p.A280A,ENSG00000197859:ENST00000393061:exon9:c.A1167T:p.A389A NA NA 9q34.2 NA NA NA NA rs2073875 0.75 0.75 0.728 0.724641 0.9066 0.5248 0.6859 0.761 0.7219 0.91 0.53 0.75 0.75 0.8197 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 1.057973 NA NA 0.917209 0.794144 NA 0.877 NA 3.0231576 1358 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 1358 1 110018148 110018148 C T intronic SYPL2 NA NA NA intronic ENSG00000143028 NA NA NA NA NA 1p13.3 NA NA NA NA rs530565 0.99 0.99 0.989 0.99381 0.9771 1 0.9942 0.9992 0.9969 0.97 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 0.830858 NA NA NA NA NA 1 NA 3.0229 1358 7 91632306 91632306 C T exonic AKAP9 NA synonymous SNV AKAP9:NM_005751:exon8:c.C3075T:p.T1025T,AKAP9:NM_147185:exon8:c.C3075T:p.T1025T exonic ENSG00000127914 NA synonymous SNV ENSG00000127914:ENST00000356239:exon8:c.C3075T:p.T1025T,ENSG00000127914:ENST00000358100:exon9:c.C3111T:p.T1037T,ENSG00000127914:ENST00000359028:exon9:c.C3111T:p.T1037T NA NA 7q21.2 NA NA NA NA rs1989779 0.94 0.94 0.946 0.935903 0.8787 0.9673 0.9409 0.9894 0.8865 0.87 0.98 0.93 0.99 0.8924 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 -0.14419 NA NA 0.872674 0.972084 NA 0.928 NA 3.0228926 1358 14 22573825 22573825 T A intergenic OR4E2,DAD1 dist=439587;dist=459982 NA NA intronic ENSG00000211805 NA NA NA NA NA 14q11.2 NA NA NA NA rs11408894 NA NA NA 0.321486 0.3171 0.4028 0.3646 0.2284 0.3374 NA NA NA NA 0.3274 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.015886 NA NA NA NA NA NA NA 3.0221667 1358 11 71715218 71715218 T C intronic NUMA1 NA NA NA intronic ENSG00000137496,ENSG00000137497 NA NA NA NA NA 11q13.4 NA NA NA NA rs2852365 0.89 0.89 NA 0.879792 0.9781 0.8661 0.8487 0.8381 0.8712 0.98 0.85 0.86 0.84 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 0.96172 NA NA NA NA NA 0.913 NA 3.0219 1358 12 6091000 6091000 A G exonic VWF NA synonymous SNV VWF:NM_000552:exon42:c.T7239C:p.T2413T exonic ENSG00000110799 NA synonymous SNV ENSG00000110799:ENST00000261405:exon42:c.T7239C:p.T2413T NA NA 12p13.31 NA NA NA NA rs216867 0.86 0.86 0.837 0.82508 0.8817 0.9028 0.8991 0.708 0.7924 0.88 0.93 0.9 0.71 0.8687 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 0.502761 NA NA 0.894535 0.74512 NA 0.768 NA 3.0217316 1358 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 1358 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 1358 3 73434086 73434086 A G intronic PDZRN3 NA NA NA intronic ENSG00000121440 NA NA NA NA NA 3p13 NA NA NA NA rs6787588 0.33 0.33 0.336 0.344449 0.3062 0.3125 0.3127 0.4349 0.317 0.3 0.3 0.33 0.42 0.3373 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.423818 NA NA 0.336395 0.431457 NA 0.348 NA 3.020105 1358 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 1358 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 1358 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 1358 6 32546828 32546828 C T UTR3 HLA-DRB1 NM_002124:c.*40G>A,NM_001243965:c.*40G>A NA NA UTR3 ENSG00000196126 ENST00000360004:c.*40G>A NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs1064697 0.8 0.8 0.709 0.777955 0.827 0.7173 0.8573 0.8374 0.6534 0.83 0.77 0.83 0.79 0.7189 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 0.183259 NA NA 0.768738 0.790191 ID=COSN167737;OCCURENCE=1(large_intestine) 0.558 NA 3.0186954 1358 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 1358 10 79579251 79579251 G A intronic DLG5 NA NA NA intronic ENSG00000151208 NA NA NA NA NA 10q22.3 NA NA NA NA rs2289308 0.23 0.23 0.22 0.220248 0.337 0.1726 0.2291 0.0938 0.3139 0.32 0.19 0.27 0.09 0.3001 0.34 NA NA 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 0.344767 0.136467 NA 0.254 NA 3.018133 1358 2 178681534 178681534 C T intronic PDE11A NA NA NA intronic ENSG00000128655 NA NA NA NA NA 2q31.2 NA NA NA NA rs6433698 0.41 0.41 0.443 0.418131 0.3241 0.3056 0.2622 0.7315 0.318 0.31 0.36 0.3 0.71 0.3335 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.592256 NA NA 0.324302 0.620971 NA 0.529 NA 3.018098 1358 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 1358 5 96093222 96093222 G A intronic CAST NA NA NA intronic ENSG00000153113 NA NA NA NA NA 5q15 NA NA NA NA rs27654 0.4 0.4 0.399 0.40655 0.2962 0.5308 0.438 0.4017 0.3763 0.31 0.5 0.41 0.4 0.3703 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.179046 NA NA 0.315581 0.391739 NA 0.333 NA 3.017919 1358 4 76805692 76805692 A G intronic PPEF2 NA NA NA intronic ENSG00000156194 NA NA NA NA NA 4q21.1 NA NA NA NA rs7666135 0.88 0.88 0.854 0.86222 0.9821 0.9891 0.9467 0.5378 0.9867 0.98 0.99 0.94 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 -0.452298 NA NA NA NA NA 0.79 NA 3.0179 1358 16 81095363 81095363 C T exonic C16orf46 NA synonymous SNV C16orf46:NM_001100873:exon3:c.G591A:p.L197L,C16orf46:NM_152337:exon4:c.G591A:p.L197L exonic ENSG00000166455 NA synonymous SNV ENSG00000166455:ENST00000378611:exon3:c.G591A:p.L197L,ENSG00000166455:ENST00000299578:exon4:c.G591A:p.L197L NA NA 16q23.2 NA NA NA NA rs804885 0.73 0.73 0.712 0.716054 0.8946 0.7252 0.8501 0.379 0.8834 0.89 0.72 0.85 0.41 0.8392 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 -1.461517 NA NA 0.915 0.476839 NA 0.826 NA 3.0178666 1358 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 1358 14 88407734 88407734 G C intronic GALC NA NA NA intronic ENSG00000054983 NA NA NA Score=349;Name=lod=35 NA 14q31.3 NA NA NA NA rs448805 0.94 0.94 0.929 0.940895 1 0.9306 0.9841 0.8434 0.9918 1 0.94 0.99 0.81 0.983 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.230686 NA NA 0.999262 0.870647 NA 0.935 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078196.1;CLNDSDB=.;CLNDSDBID=. 3.017738 1358 1 247921100 247921100 T G exonic OR1C1 NA synonymous SNV OR1C1:NM_012353:exon1:c.A609C:p.G203G exonic ENSG00000221888 NA synonymous SNV ENSG00000221888:ENST00000408896:exon1:c.A609C:p.G203G NA NA 1q44 NA NA NA NA rs1552812 0.76 0.76 0.735 0.732428 0.9115 0.7659 0.8775 0.4523 0.7894 0.92 0.78 0.87 0.43 0.8463 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 -0.898449 NA NA 0.891211 0.518084 NA 0.761 NA 3.0176556 1358 1 76387748 76387748 T A intronic ASB17 NA NA NA intronic ENSG00000154007 NA NA NA NA NA 1p31.1 NA NA NA NA rs12567390 0.33 0.33 0.27 0.336661 0.3032 0.7054 0.2579 0.0121 0.4857 0.32 0.64 0.28 0.01 0.3688 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.360599 NA NA 0.310349 0.067408 NA 0.341 NA 3.017651 1358 3 47734700 47734700 A G intronic SMARCC1 NA NA NA intronic ENSG00000173473 NA NA NA NA NA 3p21.31 NA NA NA NA rs12635438 0.25 0.25 0.225 0.283546 0.328 0.2728 0.3588 0.1225 0.4131 0.32 0.24 0.31 0.1 0.3196 0.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303511 NA NA 0.334767 0.142987 NA 0.21 NA 3.017633 1358 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 1358 1 145586780 145586780 T C intronic NBPF10,NUDT17 NA NA NA intronic ENSG00000186364 NA NA NA NA NA 1q21.1 NA NA NA NA rs10910829 0.29 0.29 0.276 0.269169 0.3598 0.4196 0.2406 0.028 0.3671 0.36 0.41 0.27 0.04 0.3053 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.858315 NA NA 0.317558 0.072401 NA 0.254 NA 3.017342 1358 11 126139100 126139100 T C UTR5 FOXRED1 NM_017547:c.-2T>C NA NA UTR5 ENSG00000110074 ENST00000263578:c.-2T>C,ENST00000442061:c.-4224T>C,ENST00000525770:c.-2T>C,ENST00000527004:c.-2T>C NA NA NA NA 11q24.2 NA Name=Pol2(phosphoS2),Pol2,HA-E2F1,TAF7_(SQ-8),TAF1,RFX5_(N-494),Pol2-4H8,HEY1,GATA-1,SP1,c-Myc,Sin3Ak-20,THAP1_(SC-98174),TBP,CCNT2,Pol2(b),ZBTB7A_(SC-34508) NA NA rs1786702 0.79 0.79 0.759 0.786142 0.7674 0.996 0.8256 0.5204 0.9202 0.78 1 0.81 0.57 0.7891 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.625199 1.625199 NA 0.759888 0.567924 NA 0.725 NA 3.0169454 1358 2 173662354 173662354 A G intronic RAPGEF4 NA NA NA intronic ENSG00000091428 NA NA NA NA NA 2q31.1 NA NA NA NA rs6433382 0.37 0.37 0.359 0.390575 0.2962 0.4405 0.3545 0.4175 0.4254 0.3 0.47 0.32 0.41 0.3793 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299368 NA NA 0.308032 0.414419 ID=COSN166337;OCCURENCE=1(breast) 0.37 NA 3.016468 1358 3 47044122 47044122 A T intronic NBEAL2 NA NA NA intronic ENSG00000160796 NA NA NA NA NA 3p21.31 NA Name=CTCF Name=6 NA rs11928558 0.96 0.96 0.945 0.949281 0.998 1 0.9798 0.82 1 1 1 0.98 0.83 0.9874 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.068512 NA NA 0.99821 0.849302 NA 0.928 NA 3.01639 1358 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 1358 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 1358 16 820328 820328 A C downstream MIR662 NA NA NA intronic ENSG00000162006 NA NA NA NA NA 16p13.3 NA NA NA NA rs3765328 0.41 0.41 0.398 0.476438 0.2147 0.3601 0.3487 0.8585 0.4397 0.22 0.36 0.31 0.86 0.3715 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 -0.656085 NA NA 0.231184 0.715734 NA 0.275 NA 3.0159493 1358 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 1358 16 19046960 19046960 T C intronic TMC7 NA NA NA intronic ENSG00000170537 NA NA NA NA NA 16p12.3 NA NA NA NA rs12933286 0.29 0.29 0.271 0.275958 0.327 0.1528 0.3256 0.3018 0.2802 0.35 0.16 0.31 0.32 0.3156 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.501547 NA NA 0.341512 0.286527 NA 0.261 NA 3.015888 1358 17 72281367 72281367 A G intronic DNAI2 NA NA NA intronic ENSG00000171595 NA NA NA NA NA 17q25.1 NA Name=EBF1_(C-8),EBF Name=3 NA rs6501706 0.96 0.96 0.959 0.961462 0.998 1 0.9942 0.8585 1 1 1 0.99 0.84 0.9875 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.071544 NA NA 0.998837 0.867 NA 0.949 NA 3.015663 1358 9 72783608 72783608 T C ncRNA_intronic LOC100507244 NA NA NA ncRNA_intronic ENSG00000204706 NA NA NA NA NA 9q21.12 Score=842;Name=V$TST1_01 NA NA NA rs10780871 0.87 0.87 0.871 0.861621 0.8926 0.9484 0.8732 0.7564 0.8742 0.89 0.95 0.89 0.74 0.8825 0.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369238 NA NA 0.876395 0.786655 NA 0.725 NA 3.0151716 1358 11 56127746 56127746 A G exonic OR8J1 NA synonymous SNV OR8J1:NM_001005205:exon1:c.A24G:p.R8R exonic ENSG00000172487 NA synonymous SNV ENSG00000172487:ENST00000303039:exon1:c.A24G:p.R8R NA NA 11q12.1 NA NA NA NA rs7942390 0.82 0.82 0.89 0.898363 0.8837 0.875 0.8991 0.9365 0.8855 0.81 0.83 0.86 0.8 0.8855 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.488129 NA NA 0.882305 0.936818 NA 0.899 NA 3.0151616 1359 11 71883540 71883540 G A intergenic FOLR3,FOLR1 dist=32606;dist=17062 NA NA ncRNA_exonic ENSG00000255860 NA NA NA NA NA 11q13.4 NA NA NA NA rs633738 0.94 0.94 0.93 0.916134 0.9851 0.8581 0.9683 0.8775 0.9202 0.99 0.88 0.97 0.91 NA 0.99 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12398 NA NA NA NA NA 0.877 NA 3.0149 1359 19 39691216 39691216 A T intronic NCCRP1 NA NA NA intronic ENSG00000188505 NA NA NA NA NA 19q13.2 NA NA NA NA rs11672475 0.35 0.35 0.301 0.320288 0.3201 0.4236 0.3285 0.2239 0.3384 0.31 0.48 0.39 0.25 0.3413 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.69393 NA NA 0.323837 0.289605 NA 0.355 NA 3.014763 1359 1 17557178 17557178 C T intronic PADI1 NA NA NA intronic ENSG00000142623 NA NA NA NA NA 1p36.13 NA NA NA NA rs2977235 0.33 0.33 0.324 0.358427 0.328 0.3036 0.281 0.4077 0.4346 0.32 0.32 0.27 0.41 0.3562 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327168 NA NA 0.301163 0.386064 NA 0.348 NA 3.014637 1359 15 38233869 38233869 T C intronic TMCO5A NA NA NA intronic ENSG00000166069 NA NA NA Score=304;Name=lod=23 NA 15q14 Score=863;Name=V$IRF7_01 NA NA NA rs2937991 0.97 0.97 0.959 0.957668 0.999 1 0.987 0.8472 1 1 1 0.99 0.86 0.9871 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285901 NA NA 0.999418 0.864091 NA 0.978 NA 3.014482 1359 5 134331921 134331921 T G intronic CATSPER3 NA NA NA intronic ENSG00000132570,ENSG00000152705 NA NA NA NA NA 5q31.1 NA NA NA NA rs299364 0.38 0.38 0.354 0.401957 0.3161 0.6429 0.3948 0.1505 0.5869 0.34 0.65 0.37 0.15 0.3664 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.951329 NA NA 0.303256 0.157286 NA 0.181 NA 3.014244 1359 1 29542435 29542435 C G intronic MECR NA NA NA intronic ENSG00000116353 NA NA NA NA NA 1p35.3 NA NA NA NA rs2640469 0.91 0.91 0.911 0.889776 0.9861 0.8254 0.938 0.882 0.8333 0.98 0.84 0.96 0.86 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 0.136789 NA NA NA NA NA 0.92 NA 3.0139 1359 15 90213134 90213134 T A intronic PLIN1 NA NA NA intronic ENSG00000166819 NA NA NA NA NA 15q26.1 NA NA NA NA rs2304794 0.91 0.91 0.932 0.896166 0.9861 0.7609 0.8401 0.9788 0.8712 0.98 0.76 0.88 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 0.991245 NA NA NA NA NA 0.964 NA 3.0139 1359 1 200014762 200014762 A G intronic NR5A2 NA NA NA intronic ENSG00000116833 NA NA NA NA NA 1q32.1 NA NA NA NA rs2817008 0.35 0.35 0.356 0.36242 0.329 0.0635 0.2752 0.7738 0.2106 0.31 0.06 0.31 0.78 0.3216 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 1.596623 1.596623 NA 0.335621 0.716523 NA 0.529 NA 3.013779 1359 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 1359 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 1359 2 215812297 215812297 G A intronic ABCA12 NA NA NA ncRNA_intronic ENSG00000229267 NA NA NA NA NA 2q35 NA NA NA NA rs2274412 0.49 0.49 0.499 0.523363 0.4185 0.3433 0.4841 0.7723 0.5082 0.42 0.36 0.52 0.71 0.4697 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.422114 NA NA 0.432093 0.70177 NA 0.565 NA 3.0130403 1359 1 65830297 65830297 G T intronic DNAJC6 NA NA NA intronic ENSG00000116675 NA NA NA NA NA 1p31.3 NA NA NA NA rs2296478 NA NA NA 0.550319 0.5924 0.4692 0.5202 0.6626 0.4601 NA NA NA NA 0.3947 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 -1.153489 NA NA NA NA NA 0.014 NA 3.0129 1359 10 105817043 105817043 C T intronic COL17A1 NA NA NA intronic ENSG00000065618 NA NA NA NA NA 10q25.1 NA NA NA NA rs805699 0.9 0.9 0.868 0.887181 0.9871 0.8839 0.9625 0.7352 0.9397 0.99 0.88 0.96 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 -0.948057 NA NA NA NA NA 0.841 NA 3.0129 1359 1 156536353 156536353 A G intronic IQGAP3 NA NA NA intronic ENSG00000183856 NA NA NA NA NA 1q23.1 NA Name=GABP Name=2 NA rs947663 0.97 0.97 0.967 0.959864 1 1 0.9885 0.854 1 1 1 0.99 0.88 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 -0.254995 NA NA 0.999651 0.875397 NA 0.971 NA 3.012449 1359 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 1359 5 150407456 150407456 T C intronic GPX3 NA NA NA exonic ENSG00000211445 NA unknown UNKNOWN NA NA 5q33.1 NA NA NA NA rs8177447 0.82 0.82 0.799 0.801118 0.8161 0.9702 0.8631 0.6036 0.8344 0.81 0.97 0.84 0.63 0.8321 0.97 . . . . . . . . 1.000 P . . . . -1.029 T 0.000 T . 0.186 4.999 1.68 0.122 0.010 5.340 0.185592 NA NA 0.839634 0.680244 NA 0.688 NA 3.012166 1359 12 50151977 50151977 G A intronic TMBIM6 NA NA NA intronic ENSG00000139644 NA NA NA NA NA 12q13.12 NA NA NA NA rs2720305 0.39 0.39 0.35 0.394569 0.3091 0.7351 0.4496 0.0212 0.5971 0.31 0.77 0.45 0.04 0.3709 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 0.825659 NA NA 0.308953 0.065592 NA 0.297 NA 3.011047 1359 14 79181046 79181046 A T intronic NRXN3 NA NA NA intronic ENSG00000021645 NA NA NA NA NA 14q24.3 NA NA NA NA rs1465481 0.96 0.96 0.953 0.951478 0.9891 0.8571 0.9942 0.944 0.9898 0.99 0.91 0.98 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 0.685386 NA NA NA NA NA 0.978 NA 3.0109 1359 1 109838833 109838833 T C intronic MYBPHL NA NA NA intronic ENSG00000221986 NA NA NA NA NA 1p13.3 NA Name=CTCF_(SC-5916),CTCF Name=3 NA rs616899 0.97 0.97 0.973 0.965655 1 1 0.987 0.8767 1 1 1 0.99 0.9 0.9902 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.470209 NA NA 0.998953 0.899228 NA 0.971 NA 3.010847 1359 22 41537234 41537234 G T intronic EP300 NA NA NA intronic ENSG00000100393 NA NA NA NA NA 22q13.2 NA NA NA NA rs6002267 0.97 0.97 0.968 0.961661 1 1 0.9899 0.8623 0.9969 1 1 0.99 0.86 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 -0.048444 NA NA NA NA NA 0.935 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079669.1;CLNDSDB=.;CLNDSDBID=. 3.0108 1359 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 1359 11 45935384 45935384 A G exonic PEX16 NA synonymous SNV PEX16:NM_004813:exon9:c.T873C:p.Y291Y,PEX16:NM_057174:exon9:c.T873C:p.Y291Y exonic ENSG00000121680 NA synonymous SNV ENSG00000121680:ENST00000241041:exon9:c.T873C:p.Y291Y,ENSG00000121680:ENST00000378750:exon9:c.T873C:p.Y291Y,ENSG00000121680:ENST00000532681:exon9:c.T588C:p.Y196Y NA NA 11p11.2 NA NA NA NA rs1132349 0.68 0.68 0.65 0.689097 0.9215 0.4653 0.6643 0.559 0.8742 0.93 0.42 0.69 0.58 0.8155 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 -1.395688 NA NA 0.919051 0.601226 NA 0.681 NA 3.0106156 1359 11 8284838 8284838 A G intronic LMO1 NA NA NA intronic ENSG00000166407 NA NA NA Score=309;Name=lod=24 NA 11p15.4 NA Name=CTCF NA NA rs204931 0.98 0.98 0.979 0.975439 0.999 1 0.9928 0.9115 1 1 1 0.99 0.91 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 -0.083588 NA NA 0.998331 0.923523 NA 0.674 NA 3.010369 1359 8 110420245 110420245 T C intronic PKHD1L1 NA NA NA intronic ENSG00000205038 NA NA NA NA NA 8q23.1 NA NA NA NA rs16879470 0.32 0.32 0.282 0.314097 0.3111 0.3929 0.4741 0.1551 0.3374 0.31 0.42 0.42 0.17 0.3588 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.324965 NA NA 0.320118 0.192179 NA 0.297 NA 3.009982 1359 3 111950367 111950367 C G intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA NA NA 3q13.2 NA NA NA NA rs55735606 0.29 0.29 0.295 0.265375 0.3449 0.2242 0.2334 0.3169 0.1789 0.34 0.2 0.26 0.33 0.3226 0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23191 NA NA 0.322551 0.325444 NA 0.283 NA 3.009949 1359 9 130889705 130889705 G A intronic PTGES2 NA NA NA intronic ENSG00000148334 NA NA NA NA NA 9q34.11 NA Name=Sin3Ak-20,ZEB1_(SC-25388),Pol2,HA-E2F1 Name=5 NA rs4837244 0.96 0.96 0.953 0.96246 1 1 0.9928 0.8616 1 1 1 0.99 0.83 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 0.449246 NA NA 0.999574 0.912868 NA 0.79 NA 3.009626 1359 15 70350457 70350457 C G intronic TLE3 NA NA NA intronic ENSG00000140332 NA NA NA NA NA 15q23 NA NA NA NA rs2291982 0.38 0.38 0.359 0.302716 0.3091 0.4296 0.3631 0.2345 0.2147 0.38 0.49 0.39 0.25 0.3205 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.190891 NA NA 0.360798 0.294872 NA 0.319 NA 3.009602 1359 10 48438734 48438734 C T UTR5 GDF10 NM_004962:c.-24G>A NA NA UTR5 ENSG00000107623 ENST00000224605:c.-24G>A NA NA NA NA 10q11.22 NA Name=HNF4A_(H-171) NA NA rs1126827 0.7 0.7 0.688 0.684904 0.7634 0.6915 0.7896 0.5469 0.7096 0.77 0.69 0.77 0.56 0.769 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 0.775374 NA NA 0.791498 0.662859 NA 0.196 NA 3.0094354 1359 17 7358803 7358803 G A intronic CHRNB1 NA NA NA intronic ENSG00000170175 NA NA NA NA NA 17p13.1 NA Name=PU.1,YY1,TR4,ERalpha_a,BAF170,SIX5,SRF,c-Myc,YY1_(C-20),ETS1,ELF1_(SC-631),GABP,Znf143_(16618-1-AP),NFKB,USF-1 Name=146 NA rs7214344 0.97 0.97 0.961 0.967053 1 1 0.9885 0.8812 1 1 1 0.99 0.87 0.9909 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.07763 NA NA 0.999767 0.903314 NA 0.964 NA 3.009333 1359 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 1359 X 26179532 26179532 A G intergenic MAGEB18,MAGEB6 dist=20679;dist=31025 NA NA ncRNA_exonic ENSG00000232030 NA NA NA NA NA Xp21.3 NA NA NA NA rs5943854 0.69 0.69 0.67409 NA NA NA NA NA NA 0.43 0.92 0.69 0.83 0.5793 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 -0.041366 NA NA 0.411973 0.796192 NA 0.514 NA 3.008727 1359 6 33261871 33261871 A G intronic RGL2 NA NA NA intronic ENSG00000204220,ENSG00000237441 NA NA NA NA NA 6p21.32 NA NA NA NA rs2239842 0.26 0.26 0.223 0.236621 0.329 0.2788 0.3444 0.0189 0.316 0.34 0.25 0.39 0.03 0.324 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.621134 NA NA 0.338372 0.068543 NA 0.283 NA 3.008628 1359 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 1359 12 57590758 57590758 C T intronic LRP1 NA NA NA intronic ENSG00000123384 NA NA NA NA NA 12q13.3 NA NA NA NA rs1800191 0.41 0.41 0.399 0.407748 0.3141 0.5 0.4553 0.5272 0.2137 0.32 0.44 0.43 0.51 0.3667 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.700498 1.700498 NA 0.310726 0.499091 NA 0.312 NA 3.008474 1359 1 158656281 158656281 T C intronic SPTA1 NA NA NA intronic ENSG00000163554 NA NA NA Score=371;Name=lod=43 NA 1q23.1 NA Name=GATA-1,Pol2 NA NA rs2564858 0.98 0.98 0.965 0.969848 1 1 0.9957 0.888 1 1 1 0.99 0.89 0.9919 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.355886 1.355886 NA 0.999631 0.913043 NA 0.971 NA 3.008469 1359 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 1359 3 45500174 45500174 C A intronic LARS2 NA NA NA intronic ENSG00000011376 NA NA NA NA NA 3p21.31 NA NA NA NA rs745551 0.9 0.9 0.87 0.86242 0.992 0.994 0.9467 0.5212 0.9949 1 1 0.95 0.59 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 -1.025907 NA NA NA NA NA 0.819 NA 3.008 1359 9 91628546 91628546 A C intronic SHC3 NA NA NA intronic ENSG00000148082 NA NA NA NA NA 9q22.1 NA NA NA NA rs944483 0.98 0.98 0.973 0.977037 0.992 1 0.9856 0.9319 0.9928 0.99 1 0.98 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 -0.172331 NA NA NA NA NA 0.986 NA 3.008 1359 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 1359 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 1359 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 1359 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 1359 11 130069790 130069790 T G intronic ST14 NA NA NA intronic ENSG00000149418 NA NA NA NA NA 11q24.3 NA NA NA NA rs613501 0.99 0.99 0.998 0.997204 0.993 1 0.9914 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 0.499131 NA NA NA NA NA 0.993 NA 3.007 1359 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 1359 11 72291927 72291927 T C intronic PDE2A NA NA NA intronic ENSG00000186642 NA NA NA Score=646;Name=lod=564 NA 11q13.4 NA Name=AP-2gamma NA NA rs577536 0.98 0.98 0.98 0.976637 1 1 0.9928 0.9153 1 1 1 1 0.91 0.9937 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.527366 2.527366 NA 0.999534 0.930455 NA 0.964 NA 3.006766 1359 10 118451810 118451810 A G intronic HSPA12A NA NA NA intronic ENSG00000165868 NA NA NA NA NA 10q25.3 NA NA NA NA rs733216 0.5 0.5 0.508 0.511382 0.5119 0.3264 0.5216 0.6573 0.4969 0.53 0.33 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 0.411196 NA NA 0.481416 0.597603 NA 0.529 NA 3.006684 1359 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 1359 15 59548475 59548475 C T intronic MYO1E NA NA NA intronic ENSG00000157483 NA NA NA NA NA 15q22.2 NA Name=SP1,p300_(N-15),c-Myc,Rad21,Max,BAF155,SMC3_(ab9263),JunD,GTF2F1_(RAP-74),GR,CEBPB,BRCA1_(C-1863),c-Fos,AP-2gamma,HDAC2_(SC-6296),p300,STAT1,BCL11A,c-Jun,TAF1 Name=42 NA rs4508371 0.98 0.98 0.962 0.97504 1 1 0.9971 0.907 1 1 1 0.99 0.91 0.9939 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18114 NA NA 0.999767 0.93379 NA 0.986 NA 3.006333 1359 11 8717003 8717003 C T intronic ST5 NA NA NA ncRNA_intronic ENSG00000254665 NA NA NA NA NA 11p15.4 NA NA NA NA rs2270956 0.36 0.36 0.347 0.336462 0.4334 0.4276 0.3617 0.1142 0.4254 0.45 0.45 0.36 0.11 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 1.375799 1.375799 NA 0.466597 0.166061 NA 0.384 NA 3.0062363 1359 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 1359 11 5344772 5344772 T C exonic OR51B2 NA synonymous SNV OR51B2:NM_033180:exon1:c.A756G:p.T252T exonic ENSG00000184881 NA synonymous SNV ENSG00000184881:ENST00000328813:exon1:c.A756G:p.T252T NA NA 11p15.4 NA NA NA NA rs10742622 0.75 0.75 0.743 0.754992 0.9066 0.5407 0.7651 0.7829 0.7751 0.9 0.53 0.79 0.77 0.8412 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 -1.613766 NA NA 0.913312 0.806679 NA 0.783 NA 3.0055546 1359 9 80912115 80912115 G C UTR5 PSAT1 NM_021154:c.-12G>C,NM_058179:c.-12G>C NA NA UTR5 ENSG00000135069 ENST00000376588:c.-12G>C,ENST00000347159:c.-12G>C NA NA NA NA 9q21.2 NA Name=ZNF263,AP-2alpha,c-Fos,AP-2gamma,CCNT2,TBP,Mxi1_(bHLH),Sin3Ak-20,THAP1_(SC-98174),ELF1_(SC-631),HEY1,Pol2-4H8,TAF1,RFX5_(N-494),E2F6,E2F6_(H-50),TAF7_(SQ-8),CHD2_(N-1250),HA-E2F1,FOSL2,Pol2,Pol2(phosphoS2) NA NA rs2277148 0.76 0.76 0.713 0.760383 0.7515 0.6627 0.8516 0.8442 0.6922 0.74 0.68 0.83 0.83 0.7901 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 0.662749 NA 0.02 0.786231 0.830361 NA 0.652 NA 3.0055024 1359 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 1359 16 66759682 66759682 C A intronic DYNC1LI2 NA NA NA ncRNA_intronic ENSG00000260465 NA NA NA NA NA 16q22.1 NA NA NA NA rs2305311 0.54 0.54 0.524 0.546725 0.4304 0.6508 0.4798 0.6467 0.4714 0.42 0.66 0.5 0.63 0.4777 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 0.715506 NA NA 0.420116 0.606315 NA 0.507 NA 3.0051173 1359 14 100615665 100615665 T C exonic DEGS2 NA synonymous SNV DEGS2:NM_206918:exon2:c.A465G:p.T155T exonic ENSG00000168350 NA synonymous SNV ENSG00000168350:ENST00000305631:exon2:c.A465G:p.T155T NA NA 14q32.2 NA NA NA NA rs4905936 0.92 0.92 0.905 0.897165 0.8926 0.996 0.9207 0.851 0.8456 0.9 1 0.92 0.86 0.8929 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.741297 NA NA 0.876105 0.862006 NA 0.826 NA 3.0050616 1359 6 75841722 75841722 A T exonic COL12A1 NA synonymous SNV COL12A1:NM_080645:exon20:c.T2379A:p.A793A,COL12A1:NM_004370:exon35:c.T5871A:p.A1957A exonic ENSG00000111799 NA synonymous SNV ENSG00000111799:ENST00000345356:exon20:c.T2379A:p.A793A,ENSG00000111799:ENST00000416123:exon34:c.T5871A:p.A1957A,ENSG00000111799:ENST00000322507:exon35:c.T5871A:p.A1957A,ENSG00000111799:ENST00000483888:exon35:c.T5871A:p.A1957A NA NA 6q13 NA NA NA NA rs594012 0.89 0.89 0.886 0.886182 0.8936 0.8661 0.9063 0.8843 0.8875 0.89 0.88 0.92 0.9 0.8834 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 -0.468005 NA NA 0.884625 0.8774 NA 0.928 NA 3.0050416 1360 7 2954801 2954801 T C intronic CARD11 NA NA NA intronic ENSG00000198286 NA NA NA NA NA 7p22.2 NA NA NA NA rs1182157 1 1 1 0.998403 0.995 1 0.9957 1 1 1 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 -0.575673 NA NA NA NA NA 0.978 NA 3.005 1360 11 71932120 71932120 G C intronic FOLR2 NA NA NA intronic ENSG00000165457 NA NA NA NA NA 11q13.4 NA Name=ELF1_(SC-631) NA NA rs2508202 1 1 1 0.9998 0.999 1 1 1 1 1 1 1 1 0.9961 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.613005 NA NA NA NA NA 0.804 NA 3.0049 1360 11 66010633 66010633 T C intronic PACS1 NA NA NA intronic ENSG00000175115 NA NA NA Score=452;Name=lod=92 NA 11q13.2 NA NA NA NA rs524268 0.98 0.98 0.98 0.983027 1 1 0.9942 0.9387 1 1 1 0.99 0.93 0.9954 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.025254 2.025254 NA 0.999767 0.950227 NA 0.986 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117889.2;CLNDSDB=.;CLNDSDBID=. 3.004833 1360 8 75262841 75262841 G A intronic GDAP1 NA NA NA intronic ENSG00000104381 NA NA NA NA NA 8q21.11 NA Name=SP1,c-Myc,Oct-2,NRSF,Mxi1_(bHLH),eGFP-JunD,Sin3Ak-20,ZBTB7A_(SC-34508),TBP,BAF155,ZNF263,HA-E2F1,Pol2,POU2F2,TAF7_(SQ-8),Ini1,Pol2-4H8,BCL3,TAF1,HEY1 Name=147 NA rs4321999 0.99 0.99 0.991 0.989018 1 1 0.9957 0.9773 0.9775 1 1 1 0.96 0.9953 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.967663 1.967663 NA 0.999884 0.979119 NA 0.971 NA 3.004816 1360 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 1360 11 5344847 5344847 A G exonic OR51B2 NA synonymous SNV OR51B2:NM_033180:exon1:c.T681C:p.A227A exonic ENSG00000184881 NA synonymous SNV ENSG00000184881:ENST00000328813:exon1:c.T681C:p.A227A NA NA 11p15.4 NA NA NA NA rs10768793 0.75 0.75 0.733 0.755192 0.9076 0.5407 0.7651 0.7829 0.7751 0.9 0.53 0.79 0.77 0.8412 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 -0.4918 NA NA 0.913312 0.806679 NA 0.783 NA 3.0045546 1360 14 75470446 75470446 C A intronic EIF2B2 NA NA NA intronic ENSG00000119718 NA NA NA NA NA 14q24.3 NA Name=CEBPB Name=21 NA rs175041 0.99 0.99 0.989 0.986022 1 1 0.9928 0.9508 1 1 1 0.99 0.96 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.042756 2.042756 NA 1 0.954153 NA 0.986 NA 3.0044 1360 3 58621935 58621935 C T intronic FAM3D NA NA NA intronic ENSG00000198643 NA NA NA NA NA 3p14.2 NA NA NA NA rs6791782 0.97 0.97 0.964 0.971246 0.996 1 0.9928 0.8979 1 1 1 0.99 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 -0.840636 NA NA NA NA NA 0.935 NA 3.004 1360 17 73658489 73658489 T C intronic RECQL5 NA NA NA intronic ENSG00000108469 NA NA NA NA NA 17q25.1 NA NA NA NA rs820159 0.98 0.98 0.966 0.967851 0.996 1 0.9885 0.8911 0.9949 1 1 0.99 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 0.722527 NA NA NA NA NA 0.978 NA 3.004 1360 19 547224 547224 A G intronic GZMM NA NA NA intronic ENSG00000197540 NA NA NA NA NA 19p13.3 NA NA NA NA rs4919846 1 1 0.998 0.998602 0.996 1 0.9957 1 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 0.477012 NA NA NA NA NA 0.964 NA 3.004 1360 5 154300940 154300940 A C exonic GEMIN5 NA synonymous SNV GEMIN5:NM_001252156:exon10:c.T1422G:p.T474T,GEMIN5:NM_015465:exon10:c.T1425G:p.T475T exonic ENSG00000082516 NA synonymous SNV ENSG00000082516:ENST00000285873:exon10:c.T1425G:p.T475T NA NA 5q33.2 NA NA NA NA rs348739 0.81 0.81 0.796 0.788738 0.8867 0.8919 0.7666 0.5711 0.8916 0.89 0.9 0.81 0.57 0.8653 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 0.268475 NA NA 0.910698 0.635497 NA 0.826 NA 3.0039686 1360 19 15285052 15285052 T C exonic NOTCH3 NA synonymous SNV NOTCH3:NM_000435:exon25:c.A4563G:p.P1521P exonic ENSG00000074181 NA synonymous SNV ENSG00000074181:ENST00000263388:exon25:c.A4563G:p.P1521P NA NA 19p13.12 NA NA NA NA rs1044006 0.87 0.87 0.88 0.871805 0.8817 0.8006 0.7637 0.9879 0.8548 0.88 0.8 0.79 0.98 0.8812 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 1.219522 NA NA 0.899836 0.977681 ID=COSM438775,COSM1480700;OCCURENCE=1(breast) 0.761 NA 3.0039306 1360 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 1360 11 5345486 5345486 G A exonic OR51B2 NA synonymous SNV OR51B2:NM_033180:exon1:c.C42T:p.G14G exonic ENSG00000184881 NA synonymous SNV ENSG00000184881:ENST00000328813:exon1:c.C42T:p.G14G NA NA 11p15.4 NA NA NA NA rs4910750 0.75 0.75 0.74 0.755591 0.9085 0.5397 0.7651 0.7844 0.7751 0.9 0.52 0.79 0.77 0.8414 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 -1.240211 NA NA 0.912963 0.808723 NA 0.783 NA 3.0038036 1360 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 1360 12 22063749 22063749 T C intronic ABCC9 NA NA NA intronic ENSG00000069431 NA NA NA NA NA 12p12.1 NA NA Name=4 NA rs4762720 0.99 0.99 0.991 0.991613 1 1 0.9971 0.9697 1 1 1 0.99 0.98 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 0.007197 NA NA 0.999767 0.970268 NA 0.986 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000038581.1|RCV000123451.1;CLNDSDB=.|.;CLNDSDBID=.|. 3.003333 1360 X 152807923 152807923 G C intronic ATP2B3 NA NA NA intronic ENSG00000067842 NA NA NA NA NA Xq28 NA Name=USF-1,USF2 NA NA rs2980013 0.99 0.99 0.98251 NA NA NA NA NA NA 1 1 1 0.94 0.997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.259675 NA NA 0.999851 0.973403 NA 0.717 NA 3.003149 1360 10 387060 387060 G A intronic DIP2C NA NA NA intronic ENSG00000151240 NA NA NA NA NA 10p15.3 NA NA NA NA rs7904155 0.96 0.96 0.963 0.958466 0.997 1 0.987 0.8517 1 1 1 0.99 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 -0.18323 NA NA NA NA NA 0.957 NA 3.003 1360 13 19941233 19941233 C A intergenic LINC00421,TPTE2 dist=20344;dist=55786 NA NA ncRNA_exonic ENSG00000224976 NA NA NA NA NA 13q12.11 NA NA NA NA rs3002090 0.95 0.95 0.938 0.941494 0.997 1 0.9899 0.7859 1 1 1 0.99 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 -0.874539 NA NA NA NA NA 0.935 NA 3.003 1360 18 56191351 56191351 C T intronic ALPK2 NA NA NA intronic ENSG00000198796 NA NA NA NA NA 18q21.31 NA NA NA NA rs7228617 0.94 0.94 0.927 0.932708 0.997 1 0.9654 0.7685 0.9959 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 -0.477759 NA NA NA NA NA 0.884 NA 3.003 1360 15 45250755 45250755 C T intronic C15orf43 NA NA NA intronic ENSG00000167014 NA NA NA NA NA 15q21.1 Score=888;Name=V$CP2_01 NA NA NA rs373082 0.87 0.87 0.98 0.999601 0.998 1 1 1 1 0.85 0.91 0.91 0.83 0.9993 0.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.730082 NA NA NA NA NA NA NA 3.0027 1360 15 45250756 45250756 A G intronic C15orf43 NA NA NA intronic ENSG00000167014 NA NA NA NA NA 15q21.1 Score=888;Name=V$CP2_01 NA NA NA rs446505 0.86 0.86 NA 0.999601 0.998 1 1 1 1 0.84 0.91 0.9 0.82 0.9993 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 -0.409325 NA NA NA NA NA NA NA 3.0027 1360 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=YY1,TBP,Pol2(b),ELK4,Sin3Ak-20,c-Myc,YY1_(C-20),Max,ELF1_(SC-631),HEY1,Pol2-4H8,TAF1,TAF7_(SQ-8),HA-E2F1,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 1360 12 57869241 57869241 T C intronic ARHGAP9 NA NA NA intronic ENSG00000123329 NA NA NA NA NA 12q13.3 NA Name=SUZ12 Name=5 NA rs527226 0.99 0.99 0.994 0.988818 1 1 0.9986 0.9584 1 1 1 1 0.97 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 0.905904 NA NA 1 0.974747 NA 0.964 NA 3.0025 1360 14 51206021 51206021 A G intronic NIN NA NA NA intronic ENSG00000100503 NA NA NA NA NA 14q22.1 NA NA Name=3 NA rs3015485 0.99 0.99 0.987 0.992612 1 1 0.9957 0.9743 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 1.698418 1.698418 NA 1 0.974353 NA 0.978 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117812.2;CLNDSDB=.;CLNDSDBID=. 3.0024 1360 3 129279597 129279597 C T intronic PLXND1 NA NA NA intronic ENSG00000004399 NA NA NA NA NA 3q22.1 NA NA Name=74 NA rs2713627 1 1 1 0.998403 0.999 1 1 1 0.9928 1 1 1 1 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065333 NA NA NA NA NA 1 NA 3.0023 1360 21 43274653 43274653 C T intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs2277794 0.3 0.3 0.262 0.303315 0.326 0.2966 0.3746 0.1891 0.3906 0.34 0.28 0.38 0.19 0.3434 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824981 NA NA 0.328372 0.19882 NA 0.304 NA 3.002228 1360 20 61143487 61143487 T C ncRNA_exonic C20orf166-AS1 NA NA NA ncRNA_exonic ENSG00000174403 NA NA NA NA NA 20q13.33 NA NA NA NA rs3934574 0.56 0.56 0.538 0.551518 0.5517 0.6994 0.5879 0.472 0.4806 0.56 0.68 0.53 0.43 0.5605 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272707 NA NA 0.552326 0.494553 NA 0.493 NA 3.0021406 1360 3 113619872 113619872 C T intronic GRAMD1C NA NA NA intronic ENSG00000178075 NA NA NA Score=585;Name=lod=317 NA 3q13.31 Score=924;Name=V$TCF11_01 NA NA NA rs2632244 0.99 0.99 0.988 0.992812 1 1 0.9942 0.9758 1 1 1 1 0.97 0.9981 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.149135 NA NA 0.999884 0.980027 NA 1 NA 3.002016 1360 8 145692812 145692812 C T intronic KIFC2 NA NA NA intronic ENSG00000167702 NA NA NA NA NA 8q24.3 NA NA NA NA rs2250779 0.9 0.9 0.896 0.914137 0.998 0.8075 0.9236 0.8654 0.9969 1 0.8 0.93 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 0.966243 NA NA NA NA NA 0.906 NA 3.002 1360 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 1360 3 122437321 122437321 T C exonic PARP14 NA synonymous SNV PARP14:NM_017554:exon14:c.T4323C:p.Y1441Y exonic ENSG00000173193 NA synonymous SNV ENSG00000173193:ENST00000460683:exon11:c.T3846C:p.Y1282Y,ENSG00000173193:ENST00000474629:exon14:c.T4323C:p.Y1441Y NA NA 3q21.1 NA NA NA NA rs7645033 0.91 0.91 0.903 0.91873 0.8787 0.9802 0.9352 0.8646 0.9581 0.87 0.97 0.94 0.86 0.9016 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 -1.633314 NA NA 0.884443 0.892891 NA 0.855 NA 3.0019236 1360 11 93463666 93463666 C A downstream KIAA1731,SNORA25,SNORA32 NA NA NA UTR3 ENSG00000166012 ENST00000323981:c.*951G>T NA NA NA NA 11q21 NA Name=BCL3 Name=3 NA rs7119918 0.99 0.99 0.99 0.988219 1 1 0.9971 0.9569 1 1 1 1 0.96 0.9981 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.196022 NA NA 1 0.978833 NA 0.986 NA 3.0019 1360 11 64594490 64594490 A G intronic CDC42BPG NA NA NA intronic ENSG00000171219 NA NA NA NA NA 11q13.1 NA Name=SP1,NF-YB Name=5 NA rs646709 1 1 0.999 0.996805 1 1 0.9986 0.9887 1 1 1 1 1 0.9983 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271744 NA NA 1 0.992942 NA 0.986 NA 3.0017 1360 16 87760337 87760337 A C intronic KLHDC4 NA NA NA intronic ENSG00000104731 NA NA NA NA NA 16q24.2 NA NA Name=3 NA rs67926154 1 1 0.998 1 1 1 1 1 1 1 1 1 1 0.9983 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144721 NA NA NA NA NA 0.37 NA 3.0017 1360 4 155156207 155156207 G A exonic DCHS2 NA synonymous SNV DCHS2:NM_017639:exon25:c.C8232T:p.D2744D exonic ENSG00000197410 NA synonymous SNV ENSG00000197410:ENST00000357232:exon25:c.C8232T:p.D2744D NA NA 4q31.3 NA NA NA NA rs7655799 0.69 0.69 0.675 0.669529 0.9105 0.7728 0.6513 0.2564 0.8865 0.91 0.75 0.73 0.25 0.8317 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 -0.021784 NA NA 0.923023 0.362006 NA 0.674 NA 3.0014436 1360 12 21623122 21623122 T G UTR3 PYROXD1,RECQL NM_024854:c.*1434T>G;NM_002907:c.*6A>C,NM_032941:c.*6A>C NA NA UTR3 ENSG00000004700,ENSG00000121350 ENST00000444129:c.*6A>C,ENST00000421138:c.*6A>C;ENST00000240651:c.*1434T>G,ENST00000538582:c.*1434T>G NA NA NA NA 12p12.1 NA NA NA NA rs13035 0.38 0.38 0.337 0.369409 0.4712 0.4534 0.4049 0.1059 0.5092 0.48 0.46 0.42 0.12 0.428 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.41319 NA NA 0.432744 0.157811 NA 0.196 NA 3.0013894 1360 14 39532492 39532492 T C intronic SEC23A NA NA NA intronic ENSG00000100934 NA NA NA NA NA 14q21.1 NA NA NA NA rs55993688 0.27 0.27 0.258 0.247604 0.3499 0.3065 0.2795 0.0673 0.3027 0.35 0.32 0.28 0.08 0.3063 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.800116 NA NA 0.342442 0.115297 NA 0.341 NA 3.001358 1360 1 111726213 111726213 A G intronic CEPT1 NA NA NA intronic ENSG00000134255 NA NA NA Score=662;Name=lod=652 NA 1p13.3 NA NA NA NA rs694180 0.72 0.72 0.709 0.754992 0.6431 0.6458 0.7954 0.8548 0.819 0.65 0.66 0.77 0.85 0.7003 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 2.92973 2.92973 NA 0.655349 0.816841 NA 0.768 NA 3.001251 1360 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 1360 14 76232398 76232398 T C intronic TTLL5 NA NA NA intronic ENSG00000119685 NA NA NA Score=597;Name=lod=355 NA 14q24.3 Score=818;Name=V$HNF1_C NA NA NA rs2359870 1 1 0.998 0.997005 1 1 1 0.9887 1 1 1 1 0.99 0.9989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.629649 1.629649 NA 1 0.987744 NA 0.986 NA 3.0011 1360 3 123021838 123021838 A G intronic ADCY5 NA NA NA intronic ENSG00000173175 NA NA NA NA NA 3q21.1 NA NA NA NA rs9877581 0.98 0.98 0.977 0.983427 0.999 0.997 0.9942 0.9433 1 1 0.99 0.99 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 1.044368 NA NA NA NA NA 0.978 NA 3.001 1360 5 180056620 180056620 G A intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA rs414348 0.95 0.95 0.928 0.933906 0.999 1 0.9914 0.7549 1 1 1 0.99 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 -0.984428 NA NA NA NA NA 0.92 NA 3.001 1360 11 93534930 93534930 T G intronic MED17 NA NA NA intronic ENSG00000042429 NA NA NA NA NA 11q21 NA NA NA NA rs35544640 0.87 0.87 0.73 0.933706 0.999 1 0.9798 0.7602 1 0.94 0.93 0.91 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 0.048224 NA NA NA NA NA NA NA 3.001 1360 11 93534931 93534931 T A intronic MED17 NA NA NA intronic ENSG00000042429 NA NA NA NA NA 11q21 NA NA NA NA rs34875966 0.86 0.86 0.738 0.933706 0.999 1 0.9798 0.7602 1 0.91 0.92 0.91 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 0.297943 NA NA NA NA NA NA NA 3.001 1360 15 74572242 74572242 T A intronic CCDC33 NA NA NA intronic ENSG00000140481 NA NA NA NA NA 15q24.1 NA NA NA NA rs351165 0.98 0.98 0.976 0.973642 0.999 1 0.9928 0.9047 1 1 1 0.99 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 -0.549648 NA NA NA NA NA 0.971 NA 3.001 1360 1 78178976 78178976 T A intronic USP33 NA NA NA intronic ENSG00000077254 NA NA NA NA NA 1p31.1 NA NA NA NA rs6603958 0.42 0.42 0.403 0.492612 0.332 0.4087 0.2622 0.7451 0.5665 0.34 0.39 0.26 0.72 0.366 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073649 NA NA 0.301279 0.675443 NA 0.348 NA 3.000721 1360 4 95575601 95575601 C T intronic PDLIM5 NA NA NA intronic ENSG00000163110 NA NA NA NA NA 4q22.3 NA NA NA NA rs2280003 0.31 0.31 0.298 0.265575 0.3519 0.3323 0.2579 0.2179 0.1779 0.35 0.34 0.26 0.24 0.3035 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.154467 2.154467 NA 0.343953 0.231276 NA 0.297 NA 3.000647 1360 18 55288879 55288879 A G intronic NARS NA NA NA intronic ENSG00000134440 NA NA NA NA NA 18q21.31 NA Name=Sin3Ak-20,c-Myc,Oct-2,Pol2(b),TAF7_(SQ-8),TCF12,POU2F2,Pol2,HEY1,RFX5_(N-494),TAF1,Pol2-4H8 NA NA rs368935 0.98 0.98 0.977 0.982628 1 1 0.9914 0.9387 1 1 1 0.99 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 1.199566 NA NA 0.999371 0.944364 NA 0.942 NA 3.000629 1360 19 6754774 6754774 C A intronic SH2D3A NA NA NA intronic ENSG00000125731 NA NA NA NA NA 19p13.3 NA Name=ZNF263 NA NA rs168129 1 1 0.997 0.997604 1 0.9881 1 1 1 1 0.99 1 1 0.9994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.396055 NA NA NA NA NA 0.993 NA 3.0006 1360 11 10823815 10823815 C T intronic EIF4G2 NA NA NA intronic ENSG00000110321 NA NA NA NA NA 11p15.3 NA Name=CTCF_(SC-5916),SP1 Name=4 NA rs7105210 1 1 1 0.998203 1 1 1 0.9932 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 -2.274714 NA NA 1 0.995684 NA 0.993 NA 3.0005 1360 2 103059613 103059613 A G intronic IL18RAP NA NA NA intronic ENSG00000115607 NA NA NA NA NA 2q12.1 NA Name=GR Name=104 NA rs1558651 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 -0.444406 NA NA 0.999767 1 NA 1 NA 3.000333 1360 5 66429329 66429329 G T intronic MAST4 NA NA NA intronic ENSG00000069020 NA NA NA Score=278;Name=lod=18 NA 5q12.3 NA NA NA NA rs2371882 1 1 1 0.999002 1 0.995 1 1 1 1 1 1 1 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103169 NA NA NA NA NA 1 NA 3.0003 1360 3 126142496 126142496 T C intronic CCDC37 NA NA NA intronic ENSG00000163885 NA NA NA NA NA 3q21.3 NA NA NA NA rs13064828 0.33 0.33 0.342 0.302915 0.3419 0.3383 0.3112 0.3275 0.1871 0.33 0.33 0.32 0.32 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 0.026336 NA NA 0.345233 0.324557 NA 0.326 NA 3.000167 1360 3 48624611 48624611 C T intronic COL7A1 NA NA NA intronic ENSG00000114270 NA NA NA NA NA 3p21.31 NA NA NA NA rs2255532 0.39 0.39 0.397 0.430511 0.3141 0.1865 0.2522 0.854 0.3558 0.33 0.18 0.23 0.83 0.3573 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 -1.742669 NA NA 0.328488 0.763504 ID=COSN166881;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.362 NA 3.000112 1360 1 21179969 21179969 G A intronic EIF4G3 NA NA NA intronic ENSG00000075151 NA NA NA NA NA 1p36.12 NA NA NA NA rs7542882 0.95 0.95 0.943 0.9373 1 1 0.9755 0.7753 1 1 1 0.98 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 -0.174578 NA NA NA NA NA 0.964 NA 3 1360 1 82415814 82415814 T C intronic LPHN2 NA NA NA intronic ENSG00000117114 NA NA NA NA NA 1p31.1 NA NA NA NA rs9438715 1 1 0.995 0.99361 1 1 0.9942 0.9796 0.999 1 1 0.99 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 0.198805 NA NA NA NA NA 0.804 NA 3 1360 1 156536123 156536123 T C intronic IQGAP3 NA NA NA intronic ENSG00000183856 NA NA NA NA NA 1q23.1 NA NA NA NA rs2066378 0.97 0.97 0.967 0.959864 1 1 0.9885 0.854 1 1 1 0.99 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 1.058706 NA NA NA NA NA 0.971 NA 3 1360 2 190319990 190319990 A G intronic WDR75 NA NA NA intronic ENSG00000115368 NA NA NA NA NA 2q32.2 NA NA NA NA rs1224958 1 1 0.998 0.998602 1 1 1 0.9947 1 1 1 1 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 0.191594 NA NA NA NA NA 1 NA 3 1360 4 8237096 8237096 G C intronic SH3TC1 NA NA NA intronic ENSG00000125089 NA NA NA NA NA 4p16.1 NA NA NA NA rs1678260 0.98 0.98 0.977 0.980431 1 1 0.9928 0.9297 1 1 1 0.99 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 -0.368631 NA NA NA NA NA 0.986 NA 3 1360 8 53570529 53570529 C A intronic RB1CC1 NA NA NA intronic ENSG00000023287 NA NA NA NA NA 8q11.23 NA NA Name=5 NA rs12708142 1 1 1 1 1 1 1 1 1 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 -2.202617 NA NA NA NA NA 1 NA 3 1360 10 65928826 65928826 T C intergenic REEP3,ANXA2P3 dist=543943;dist=656459 NA NA ncRNA_exonic ENSG00000235489 NA NA NA NA NA 10q21.3 NA NA NA NA rs10740151 1 1 1 0.997404 1 1 0.9971 0.9917 1 1 1 1 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 -0.138824 NA NA NA NA NA 1 NA 3 1360 10 98138640 98138640 T G intronic TLL2 NA NA NA intronic ENSG00000095587 NA NA NA NA NA 10q24.1 NA NA NA NA rs10786286 0.98 0.98 0.98 0.973642 1 1 0.9986 0.9009 1 1 1 1 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 -0.208042 NA NA NA NA NA 0.957 NA 3 1360 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 1360 11 68131167 68131167 A T intronic LRP5 NA NA NA intronic ENSG00000162337 NA NA NA NA NA 11q13.2 NA Name=GR NA NA rs10791978 1 1 1 1 1 1 1 1 1 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 -0.535863 NA NA NA NA NA 0.652 NA 3 1360 12 18499777 18499777 C G intronic PIK3C2G NA NA NA intronic ENSG00000139144 NA NA NA NA NA 12p12.3 Score=964;Name=V$AREB6_01 NA NA NA rs10770357 1 1 1 1 1 1 1 1 1 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 1.081379 NA NA NA NA NA 1 NA 3 1360 12 51461425 51461425 C G intronic CSRNP2 NA NA NA intronic ENSG00000110925 NA NA NA NA NA 12q13.12 NA Name=FOXA1_(C-20) NA NA rs4768956 1 1 1 1 1 1 1 1 1 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 0.230971 NA NA NA NA NA 1 NA 3 1360 12 80655692 80655692 G A intronic OTOGL NA NA NA intronic ENSG00000165899 NA NA NA NA NA 12q21.31 NA NA NA NA rs10778721 1 1 0.999 0.997404 1 1 0.9986 0.9909 1 1 1 1 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 0.711133 NA NA NA NA NA 0.978 NA 3 1360 13 28885672 28885672 C T intronic FLT1 NA NA NA intronic ENSG00000102755 NA NA NA NA NA 13q12.2 NA NA NA NA rs4771238 0.99 0.99 0.984 0.98103 1 1 0.9914 0.9327 1 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 -1.019727 NA NA NA NA NA 0.971 NA 3 1360 13 111153934 111153934 G A intronic COL4A2 NA NA NA intronic ENSG00000134871 NA NA NA NA NA 13q34 NA NA NA NA rs378601 0.95 0.95 0.947 0.948882 1 1 0.9885 0.8124 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 0.434892 NA NA NA NA NA 0.978 NA 3 1360 16 16267079 16267079 A G intronic ABCC6 NA NA NA intronic ENSG00000091262 NA NA NA NA NA 16p13.11 NA NA NA NA rs11866320 0.99 0.99 0.984 0.975639 1 1 0.9885 0.9138 1 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 -0.099353 NA NA NA NA NA 0.971 NA 3 1360 16 31152717 31152717 T C intronic PRSS36 NA NA NA intronic ENSG00000178226 NA NA NA NA NA 16p11.2 NA NA NA NA rs889547 0.99 0.99 0.983 0.988618 1 1 0.9971 0.9584 1 1 1 1 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 -0.120552 NA NA NA NA NA 0.674 NA 3 1360 16 75445906 75445906 C T intronic CFDP1 NA NA NA intronic ENSG00000153774 NA NA NA NA NA 16q23.1 NA NA NA NA rs247435 0.99 0.99 0.989 0.983626 1 1 0.9971 0.9395 1 1 1 1 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 -1.009255 NA NA NA NA NA 0.971 NA 3 1360 16 81816787 81816787 T A intronic PLCG2 NA NA NA intronic ENSG00000197943 NA NA NA NA NA 16q23.3 NA NA NA NA rs4476171 1 1 1 0.998003 1 1 1 0.9977 0.9928 1 1 1 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 -0.243352 NA NA NA NA NA 0.971 NA 3 1360 20 24524218 24524218 C G intronic SYNDIG1 NA NA NA intronic ENSG00000101463 NA NA NA Score=519;Name=lod=172 NA 20p11.21 NA NA NA NA rs4815274 1 1 1 1 1 1 1 1 1 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 -0.111621 NA NA NA NA NA 1 NA 3 1360 22 30077361 30077361 G A intronic NF2 NA NA NA intronic ENSG00000186575 NA NA NA NA NA 22q12.2 NA NA NA NA rs140086 1 1 1 1 1 1 1 1 1 1 1 1 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 0.365898 NA NA NA NA NA 0.993 NA 3 1360 X 24751958 24751958 T C intronic POLA1 NA NA NA intronic ENSG00000101868 NA NA NA NA NA Xp22.11 NA NA NA NA rs4058344 1 1 1 NA NA NA NA NA NA 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 0.799417 NA NA NA NA NA 0.739 NA 3 1360 X 77296047 77296047 G C intronic ATP7A NA NA NA intronic ENSG00000165240 NA NA NA NA NA Xq21.1 NA NA NA NA rs5913631 1 1 NA NA NA NA NA NA NA 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 -0.081445 NA NA NA NA NA 0.746 NA 3 1360 X 153038516 153038516 C G intronic PLXNB3 NA NA NA intronic ENSG00000198753 NA NA NA NA NA Xq28 NA NA NA NA rs5945161 1 1 1 NA NA NA NA NA NA 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 -0.056193 NA NA NA NA NA 0.746 NA 3 1360 X 153039615 153039615 A G intronic PLXNB3 NA NA NA intronic ENSG00000198753 NA NA NA NA NA Xq28 NA NA NA NA rs1543781 1 1 1 NA NA NA NA NA NA 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 -1.541398 NA NA NA NA NA 0.659 NA 3 1360 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 1360 1 203154532 203154532 A G intronic CHI3L1 NA NA NA intronic ENSG00000133048 NA NA NA NA NA 1q32.1 NA NA Name=5 NA rs1538372 0.67 0.67 0.653 0.676318 0.6829 0.6627 0.6484 0.7141 0.6524 0.66 0.65 0.65 0.72 0.6556 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 0.4854 NA NA 0.661977 0.710849 NA 0.732 NA 2.999523 1360 1 40881041 40881041 C G exonic SMAP2 NA synonymous SNV SMAP2:NM_001198978:exon7:c.C579G:p.S193S,SMAP2:NM_001198979:exon7:c.C654G:p.S218S,SMAP2:NM_001198980:exon7:c.C429G:p.S143S,SMAP2:NM_022733:exon7:c.C669G:p.S223S exonic ENSG00000084070 NA synonymous SNV ENSG00000084070:ENST00000372708:exon7:c.C579G:p.S193S,ENSG00000084070:ENST00000372718:exon7:c.C669G:p.S223S,ENSG00000084070:ENST00000539317:exon7:c.C429G:p.S143S NA NA 1p34.2 NA NA NA NA rs209606 0.94 0.94 0.949 0.948083 0.8847 0.9772 0.9222 0.9924 0.9417 0.89 0.98 0.92 0.99 0.8978 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 0.353786 NA NA 0.884651 0.975261 NA 0.986 NA 2.9995156 1360 8 3263528 3263528 G A intronic CSMD1 NA NA NA intronic ENSG00000183117 NA NA NA NA NA 8p23.2 NA NA NA NA rs1161518 0.34 0.34 0.31 0.335663 0.327 0.5685 0.3098 0.1619 0.3579 0.34 0.54 0.3 0.14 0.3455 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814673 NA NA 0.328129 0.190813 NA 0.355 NA 2.999371 1360 5 135207382 135207382 C T intronic SLC25A48 NA NA NA exonic ENSG00000145832 NA synonymous SNV ENSG00000145832:ENST00000274513:exon5:c.C654T:p.A218A,ENSG00000145832:ENST00000420621:exon5:c.C654T:p.A218A,ENSG00000145832:ENST00000433282:exon5:c.C492T:p.A164A NA NA 5q31.1 NA NA NA NA rs2304080 0.58 0.58 0.573 0.573882 0.6243 0.7996 0.6801 0.27 0.6247 0.62 0.77 0.67 0.25 0.607 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 0.882151 NA NA 0.602994 0.321228 NA 0.493 NA 2.9990393 1360 4 113362316 113362316 A G intronic ALPK1 NA NA NA intronic ENSG00000073331 NA NA NA NA NA 4q25 NA NA NA NA rs1486868 0.34 0.34 0.366 0.346446 0.34 0.2054 0.3127 0.5643 0.228 0.32 0.23 0.3 0.51 0.3246 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414901 NA NA 0.336395 0.519746 NA 0.341 NA 2.999005 1360 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 1360 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 1360 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 1360 11 1501670 1501670 G C exonic MOB2 NA synonymous SNV MOB2:NM_001172223:exon3:c.C318G:p.S106S,MOB2:NM_053005:exon4:c.C225G:p.S75S exonic ENSG00000182208 NA synonymous SNV ENSG00000182208:ENST00000329957:exon3:c.C318G:p.S106S NA NA 11p15.5 NA NA NA NA rs10742185 0.94 0.94 0.952 0.940096 0.8797 0.998 0.8818 0.9939 0.911 0.89 1 0.85 0.99 0.9051 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.564297 NA NA 0.884096 0.975167 NA 0.957 NA 2.9977706 1360 1 237957146 237957146 G A intronic RYR2 NA NA NA intronic ENSG00000198626 NA NA NA NA NA 1q43 NA NA Name=2 NA rs790902 0.73 0.73 0.701 0.734026 0.6312 0.9454 0.7968 0.5295 0.8538 0.64 0.96 0.77 0.56 0.7134 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 -1.381723 NA NA 0.657934 0.548369 NA 0.645 NA 2.997466 1360 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 1360 19 38946215 38946215 G C intronic RYR1 NA NA NA intronic ENSG00000196218 NA NA NA NA NA 19q13.2 NA NA NA NA rs2288889 0.64 0.64 0.656 0.571885 0.6938 0.6052 0.683 0.5106 0.4162 0.7 0.62 0.71 0.51 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 -0.589399 NA NA 0.672791 0.554925 NA 0.667 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000119583.1;CLNDSDB=.;CLNDSDBID=. 2.996409 1360 9 136645079 136645079 G C intronic VAV2 NA NA NA intronic ENSG00000160293 NA NA NA NA NA 9q34.2 NA NA NA NA rs540626 0.22 0.22 0.221 0.241613 0.3638 0.0139 0.2089 0.2496 0.363 0.37 0.01 0.21 0.25 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 0.349576 NA NA 0.343023 0.263731 NA 0.225 NA 2.996277 1360 19 48734018 48734018 G A intronic CARD8 NA NA NA intronic ENSG00000105483,ENSG00000178150 NA NA NA NA NA 19q13.33 NA NA NA NA rs2304134 0.33 0.33 0.302 0.313898 0.34 0.4851 0.268 0.18 0.3241 0.34 0.44 0.28 0.2 0.3309 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.952065 NA NA 0.332868 0.208901 NA 0.268 NA 2.996232 1360 3 145788467 145788467 T C UTR3 PLOD2 NM_000935:c.*37A>G,NM_182943:c.*37A>G NA NA ncRNA_UTR3 ENSG00000152952 NA NA NA NA NA 3q24 NA NA NA NA rs6710 0.52 0.52 0.513 0.511182 0.503 0.5744 0.4769 0.5371 0.4438 0.5 0.56 0.49 0.53 0.5031 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.499294 NA NA 0.49779 0.55861 NA 0.471 NA 2.99611 1360 10 26998739 26998739 G C intronic PDSS1 NA NA NA intronic ENSG00000148459 NA NA NA NA NA 10p12.1 NA NA NA NA rs2368183 0.28 0.28 0.249 0.237819 0.3519 0.3115 0.3055 0.0635 0.2321 0.36 0.34 0.34 0.06 0.3052 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.602589 NA NA 0.34686 0.099183 NA 0.174 NA 2.99604 1360 2 54893237 54893237 C T intronic SPTBN1 NA NA NA intronic ENSG00000115306 NA NA NA NA NA 2p16.2 NA NA NA NA rs3817163 0.28 0.28 0.239 0.249401 0.3529 0.2946 0.3847 0.0333 0.2924 0.38 0.3 0.36 0.05 0.3288 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125214 NA NA 0.322442 0.090104 NA 0.246 NA 2.995858 1360 1 203652444 203652444 A G exonic ATP2B4 NA synonymous SNV ATP2B4:NM_001001396:exon2:c.A111G:p.S37S,ATP2B4:NM_001684:exon2:c.A111G:p.S37S exonic ENSG00000058668 NA synonymous SNV ENSG00000058668:ENST00000341360:exon1:c.A111G:p.S37S,ENSG00000058668:ENST00000357681:exon2:c.A111G:p.S37S,ENSG00000058668:ENST00000367218:exon2:c.A111G:p.S37S,ENSG00000058668:ENST00000367219:exon2:c.A111G:p.S37S,ENSG00000058668:ENST00000391954:exon2:c.A111G:p.S37S NA NA 1q32.1 NA NA NA NA rs1419114 0.87 0.87 0.851 0.85004 0.8976 0.999 0.9366 0.6354 0.8763 0.89 1 0.93 0.63 0.8756 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.99414 NA NA 0.897674 0.694734 NA 0.826 NA 2.9957926 1360 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 1360 10 104387019 104387019 T C intronic SUFU NA NA NA intronic ENSG00000107882 NA NA NA NA NA 10q24.32 NA NA Name=16 NA rs12414407 0.71 0.71 0.708 0.719649 0.6899 0.75 0.6311 0.7761 0.7055 0.68 0.72 0.65 0.76 0.6628 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 0.90366 NA NA 0.652093 0.737857 NA 0.609 NA 2.995207 1360 21 44430325 44430325 T C exonic PKNOX1 NA synonymous SNV PKNOX1:NM_004571:exon4:c.T342C:p.T114T exonic ENSG00000160199 NA synonymous SNV ENSG00000160199:ENST00000291547:exon4:c.T342C:p.T114T NA NA 21q22.3 NA NA NA NA rs234781 0.85 0.85 0.856 0.848043 0.8817 0.7708 0.7824 0.9039 0.864 0.9 0.76 0.81 0.92 0.877 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 1.001315 NA NA 0.912791 0.905767 NA 0.862 NA 2.9951756 1361 1 248004614 248004614 G A exonic OR11L1 NA synonymous SNV OR11L1:NM_001001959:exon1:c.C585T:p.T195T exonic ENSG00000197591 NA synonymous SNV ENSG00000197591:ENST00000355784:exon1:c.C585T:p.T195T NA NA 1q44 NA NA NA NA rs6667389 0.87 0.87 0.866 0.846845 0.8986 0.996 0.8703 0.6233 0.9254 0.91 1 0.89 0.63 0.8915 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.956676 NA NA 0.881977 0.654108 NA 0.812 NA 2.9945896 1361 20 61441797 61441797 A G intronic OGFR NA NA NA intronic ENSG00000060491 NA NA NA NA NA 20q13.33 NA NA NA NA rs2277771 0.51 0.51 0.503 0.551118 0.5159 0.4782 0.4669 0.6309 0.6145 0.53 0.45 0.46 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 -0.740474 NA NA 0.489943 0.651012 NA 0.5 NA 2.994157 1361 11 108014799 108014799 C T intronic ACAT1 NA NA NA intronic ENSG00000075239 NA NA NA NA NA 11q22.3 NA NA NA NA rs10890819 0.29 0.29 0.25 0.308506 0.3419 0.3383 0.4222 0.0507 0.5112 0.34 0.36 0.39 0.06 0.3421 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.116202 NA NA 0.322243 0.090186 NA 0.123 NA 2.993757 1361 1 85424182 85424182 A G intronic MCOLN2 NA NA NA intronic ENSG00000153898 NA NA NA NA NA 1p22.3 NA NA NA NA rs673998 0.36 0.36 0.376 0.369808 0.325 0.4018 0.2968 0.4493 0.3272 0.32 0.37 0.3 0.45 0.3394 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.246262 3.246262 NA 0.342522 0.432592 NA 0.464 NA 2.993078 1361 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 1361 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 1361 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 1361 5 64096170 64096170 G T intronic CWC27 NA NA NA intronic ENSG00000153015 NA NA NA NA NA 5q12.3 NA NA NA NA rs6449760 0.39 0.39 0.399 0.399161 0.341 0.5069 0.2104 0.4531 0.409 0.35 0.49 0.24 0.45 0.3411 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.32208 NA NA 0.326395 0.419428 NA 0.319 NA 2.991505 1361 7 50673029 50673029 T C exonic GRB10 NA synonymous SNV GRB10:NM_001001549:exon11:c.A1209G:p.A403A,GRB10:NM_001001550:exon12:c.A1173G:p.A391A,GRB10:NM_005311:exon12:c.A1347G:p.A449A,GRB10:NM_001001555:exon13:c.A1173G:p.A391A exonic ENSG00000106070 NA synonymous SNV ENSG00000106070:ENST00000357271:exon11:c.A1209G:p.A403A,ENSG00000106070:ENST00000398810:exon12:c.A1173G:p.A391A,ENSG00000106070:ENST00000398812:exon12:c.A1347G:p.A449A,ENSG00000106070:ENST00000402497:exon12:c.A1173G:p.A391A,ENSG00000106070:ENST00000402578:exon12:c.A1173G:p.A391A,ENSG00000106070:ENST00000407526:exon12:c.A1173G:p.A391A,ENSG00000106070:ENST00000439599:exon12:c.A1329G:p.A443A,ENSG00000106070:ENST00000335866:exon13:c.A1173G:p.A391A,ENSG00000106070:ENST00000406641:exon13:c.A1173G:p.A391A,ENSG00000106070:ENST00000403097:exon14:c.A1329G:p.A443A,ENSG00000106070:ENST00000401949:exon15:c.A1347G:p.A449A NA NA 7p12.1 NA NA NA NA rs4947710 0.87 0.87 0.859 0.874601 0.8867 0.9415 0.8862 0.8253 0.8517 0.88 0.92 0.91 0.79 0.88 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 -0.273009 NA NA 0.908759 0.829268 NA 0.862 NA 2.9912076 1361 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 1361 11 47193367 47193367 T G intronic ARFGAP2 NA NA NA intronic ENSG00000149182 NA NA NA NA NA 11p11.2 NA NA NA NA rs57323109 0.43 0.43 0.393 0.379593 0.326 0.7183 0.3804 0.2216 0.2986 0.34 0.7 0.38 0.3 0.3635 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 0.011257 NA NA 0.320191 0.254657 NA 0.254 NA 2.990309 1361 21 44486324 44486324 T C intronic CBS NA NA NA intronic ENSG00000160200 NA NA NA NA NA 21q22.3 NA NA NA NA rs234708 0.35 0.35 0.387 0.365216 0.3151 0.1349 0.2378 0.6891 0.3067 0.33 0.13 0.27 0.69 0.3389 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 -0.130713 NA NA 0.355747 0.636405 NA 0.391 NA 2.990253 1361 13 113812962 113812962 G A upstream PROZ NA NA NA upstream ENSG00000126231 NA NA NA NA NA 13q34 NA Name=Rad21,SP1,Sin3Ak-20,HNF4A,HEY1,HNF4G_(SC-6558),Pol2 Name=6 NA rs2273971 0.71 0.71 0.706 0.658746 0.9245 0.4514 0.7262 0.6331 0.5859 0.92 0.45 0.74 0.66 0.8257 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 -0.543813 NA NA 0.92686 0.675227 NA 0.696 NA 2.9896066 1361 10 13275553 13275553 T G exonic UCMA NA synonymous SNV UCMA:NM_145314:exon3:c.A205C:p.R69R exonic ENSG00000165623 NA synonymous SNV ENSG00000165623:ENST00000463405:exon2:c.A139C:p.R47R,ENSG00000165623:ENST00000378681:exon3:c.A205C:p.R69R NA NA 10p13 NA NA NA NA rs3829925 0.85 0.85 0.824 0.803714 0.8946 0.8393 0.9193 0.7186 0.7065 0.89 0.83 0.92 0.75 0.8711 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 -0.803411 NA NA 0.911395 0.773037 NA 0.79 NA 2.9895716 1361 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 1361 19 39408688 39408688 C G intronic SARS2 NA NA NA intronic ENSG00000104835,ENSG00000269547 NA NA NA NA NA 19q13.2 NA Name=CTCF NA NA rs4803034 0.82 0.82 0.812 0.835064 0.666 0.9742 0.8314 0.9221 0.7505 0.65 0.98 0.78 0.91 0.7242 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 0.053321 NA NA 0.620581 0.871539 NA 0.804 NA 2.989219 1361 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 1361 1 160852046 160852046 T C intronic ITLN1 NA NA NA intronic ENSG00000179914 NA NA NA NA Name=Crohn's disease 1q23.3 NA NA NA NA rs2274910 0.6 0.6 0.55 0.567492 0.6779 0.6935 0.6931 0.2769 0.6278 0.68 0.72 0.66 0.31 0.6442 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.147889 NA NA 0.689693 0.340241 NA 0.572 NA 2.988207 1361 4 155305491 155305491 C T intronic DCHS2 NA NA NA intronic ENSG00000197410 NA NA NA NA NA 4q31.3 NA NA NA NA rs34927139 0.4 0.4 0.354 0.369409 0.2913 0.6498 0.5562 0.152 0.3221 0.3 0.67 0.48 0.16 0.388 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 -0.680888 NA NA 0.332791 0.1734 NA 0.217 NA 2.987909 1361 18 6046717 6046717 T C intronic L3MBTL4 NA NA NA ncRNA_intronic ENSG00000266846 NA NA NA NA NA 18p11.31 NA NA NA NA rs7234770 0.56 0.56 0.508 0.578474 0.4254 0.6438 0.6571 0.6815 0.4734 0.42 0.61 0.65 0.66 0.481 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 0.496036 NA NA 0.43903 0.667397 NA 0.609 NA 2.9879033 1361 7 150493442 150493442 C G intronic TMEM176B NA NA NA intronic ENSG00000106565 NA NA NA NA NA 7q36.1 NA NA NA NA rs2075080 0.35 0.35 0.354 0.343251 0.3439 0.2788 0.4467 0.4153 0.2382 0.34 0.31 0.41 0.39 0.3353 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04165 NA NA 0.332907 0.425329 NA 0.312 NA 2.987893 1361 9 91262597 91262597 A G intronic LOC286238 NA NA NA ncRNA_intronic ENSG00000228189 NA NA NA NA NA 9q22.1 NA NA NA NA rs7862585 0.48 0.48 0.497 0.510982 0.4483 0.1806 0.4597 0.9191 0.4008 0.47 0.18 0.46 0.88 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 -0.541439 NA NA 0.452981 0.8422 NA 0.594 NA 2.9877523 1361 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 1361 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 1361 7 154461112 154461112 A G exonic DPP6 NA synonymous SNV DPP6:NM_001039350:exon7:c.A531G:p.K177K,DPP6:NM_001936:exon7:c.A537G:p.K179K,DPP6:NM_130797:exon7:c.A723G:p.K241K exonic ENSG00000130226 NA synonymous SNV ENSG00000130226:ENST00000332007:exon7:c.A537G:p.K179K,ENSG00000130226:ENST00000377770:exon7:c.A723G:p.K241K,ENSG00000130226:ENST00000404039:exon7:c.A531G:p.K177K NA NA 7q36.2 NA NA NA NA rs3807218 0.81 0.81 0.808 0.797324 0.9095 0.8363 0.8386 0.621 0.8507 0.91 0.82 0.85 0.63 0.8671 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 0.907171 NA NA 0.90332 0.687768 NA 0.884 NA 2.9867466 1361 19 51518222 51518222 G A intronic KLK10 NA NA NA intronic ENSG00000129451 NA NA NA NA NA 19q13.41 NA NA NA NA rs2075696 0.38 0.38 0.367 0.368011 0.34 0.256 0.4265 0.5363 0.2434 0.35 0.27 0.41 0.54 0.3426 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.068987 NA NA 0.330658 0.490468 NA 0.493 NA 2.986742 1361 3 9005078 9005078 C T UTR5 RAD18 NM_020165:c.-9G>A NA NA UTR5 ENSG00000070950 ENST00000264926:c.-9G>A,ENST00000415439:c.-9G>A,ENST00000418463:c.-9G>A,ENST00000421052:c.-9G>A,ENST00000413832:c.-9G>A NA NA NA NA 3p25.3 NA Name=JunD,GTF2F1_(RAP-74),ZNF263,CEBPB,AP-2alpha,YY1,BRCA1_(C-1863),AP-2gamma,CCNT2,CtBP2,Pol2(b),ELK4,Mxi1_(bHLH),E2F4,SIX5,Sin3Ak-20,IRF1,SP1,SRF,Max,E2F1,ATF3,ETS1,ELF1_(SC-631),HEY1,GRp20,GABP,Pol2-4H8,NFKB,c-Jun,TAF1,HMGN3,ZEB1_(SC-25388),E2F6_(H-50),E2F6,HA-E2F1,Pol2(phosphoS2),Pol2 NA NA rs615967 0.58 0.58 0.57 0.597644 0.8082 0.3958 0.7277 0.3162 0.8773 0.8 0.44 0.7 0.32 0.7529 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 1.045742 NA NA 0.785964 0.420455 NA 0.63 NA 2.9862694 1361 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 1361 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 1361 5 78340411 78340411 T C intronic DMGDH NA NA NA intronic ENSG00000132837 NA NA NA NA NA 5q14.1 NA NA NA NA rs531982 0.49 0.49 0.433 NA NA NA NA NA NA 0.48 0.6 0.59 0.29 0.5052 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.085481 NA NA 0.509188 0.339764 NA 0.413 NA 2.985612 1361 18 19995753 19995753 T C exonic CTAGE1 NA synonymous SNV CTAGE1:NM_172241:exon1:c.A2022G:p.P674P exonic ENSG00000212710 NA synonymous SNV ENSG00000212710:ENST00000391403:exon1:c.A2022G:p.P674P NA NA 18q11.2 NA NA NA NA rs9946145 0.74 0.74 0.7 0.685503 0.9274 0.7907 0.8617 0.2617 0.7761 0.93 0.82 0.86 0.26 0.8453 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 -0.423144 NA NA 0.908922 0.393912 NA 0.565 NA 2.9850446 1362 1 86896541 86896541 G A intronic CLCA2 NA NA NA intronic ENSG00000137975 NA NA NA NA NA 1p22.3 NA NA NA NA rs3737672 0.37 0.37 0.36 0.366214 0.3191 0.5288 0.2738 0.2678 0.4458 0.33 0.53 0.3 0.28 0.3552 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.909979 NA NA 0.341047 0.311394 NA 0.297 NA 2.984653 1362 1 3743319 3743319 G A intronic CEP104 NA NA NA intronic ENSG00000116198 NA NA NA NA NA 1p36.32 NA NA NA NA rs6663840 0.43 0.43 0.429 0.473442 0.328 0.5714 0.3055 0.5741 0.5051 0.33 0.55 0.33 0.52 0.3864 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399594 NA NA 0.301047 0.535633 NA 0.442 NA 2.984553 1362 1 202092580 202092580 T C exonic GPR37L1 NA synonymous SNV GPR37L1:NM_004767:exon1:c.T489C:p.S163S exonic ENSG00000170075 NA synonymous SNV ENSG00000170075:ENST00000367282:exon1:c.T489C:p.S163S NA NA 1q32.1 NA NA NA NA rs7516762 0.83 0.83 0.802 0.83147 0.9066 0.8353 0.8228 0.7088 0.9223 0.91 0.81 0.86 0.7 0.8819 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 0.54678 NA NA 0.893837 0.76305 NA 0.826 NA 2.9843296 1362 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 1362 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 1362 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 1362 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 1362 11 118179200 118179200 G A intronic CD3E NA NA NA intronic ENSG00000198851 NA NA NA NA NA 11q23.3 NA NA NA NA rs1599809 0.38 0.38 0.361 0.378195 0.34 0.5317 0.2478 0.2973 0.4611 0.33 0.55 0.28 0.32 0.3434 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.640242 NA NA 0.333217 0.290888 NA 0.37 NA 2.983383 1362 16 27356359 27356359 C T intronic IL4R NA NA NA intronic ENSG00000077238 NA NA NA NA NA 16p12.1 NA NA NA NA rs2074572 0.31 0.31 0.303 0.291733 0.327 0.374 0.3386 0.1483 0.3313 0.32 0.38 0.36 0.15 0.3373 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.88833 NA NA 0.352326 0.18366 NA 0.232 NA 2.983374 1362 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 1362 6 168298875 168298875 C T intronic MLLT4 NA NA NA intronic ENSG00000130396 NA NA NA NA NA 6q27 NA NA NA NA rs9346511 0.36 0.36 0.336 0.346446 0.325 0.5972 0.3444 0.1157 0.4233 0.34 0.58 0.36 0.13 0.3609 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.249602 NA NA 0.331047 0.152292 ID=COSM150217;OCCURENCE=1(stomach) 0.246 NA 2.983053 1362 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 1362 1 201122947 201122947 T G intronic TMEM9 NA NA NA exonic ENSG00000116857 NA synonymous SNV ENSG00000116857:ENST00000414605:exon2:c.A105C:p.T35T NA NA 1q32.1 NA Name=Pol2,GATA-1,HMGN3,GABP,Pol2-4H8,IRF1,TAL1_(SC-12984),c-Myc,eGFP-GATA2,Pol2(b) NA NA rs1925361 0.93 0.93 0.941 0.939497 0.9543 0.875 0.9625 0.9455 0.9663 0.95 0.87 0.96 0.95 0.9443 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 0.834004 NA NA 0.951977 0.938947 NA 0.978 NA 2.9827563 1362 10 118386325 118386325 C A intronic PNLIPRP2 NA NA NA intronic ENSG00000165862 NA NA NA NA NA 10q25.3 NA NA NA NA rs9787637 0.37 0.37 0.377 0.361621 0.338 0.5784 0.4179 0.236 0.2924 0.33 0.55 0.38 0.23 0.3526 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.934624 NA NA 0.326697 0.257349 NA 0.449 NA 2.982703 1362 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 1362 1 237796837 237796837 G A intronic RYR2 NA NA NA intronic ENSG00000198626 NA NA NA NA NA 1q43 NA NA NA NA rs10802626 0.41 0.41 0.42 0.428514 0.3221 0.4782 0.3818 0.531 0.3814 0.31 0.44 0.4 0.55 0.3636 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5035 NA NA 0.332285 0.503364 NA 0.471 NA 2.982015 1362 19 4945974 4945974 T C exonic UHRF1 NA unknown UNKNOWN ncRNA_exonic ENSG00000034063 NA NA NA NA NA 19p13.3 Score=1000;Name=V$AML1_01 NA NA NA rs2250978 0.96 0.96 0.945 0.956669 0.9473 0.999 0.9784 0.9418 0.9274 0.95 1 0.98 0.93 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 -0.827444 NA NA 0.951765 0.940877 NA 0.942 NA 2.9806683 1362 11 17414715 17414715 T C intronic ABCC8 NA NA NA intronic ENSG00000006071 NA NA NA NA NA 11p15.1 NA NA NA NA rs1109591 0.34 0.34 0.333 0.35623 0.335 0.1329 0.5029 0.4592 0.365 0.34 0.14 0.5 0.47 0.3439 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.580513 NA NA 0.340671 0.433409 NA 0.442 NA 2.980429 1362 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 1362 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 1362 4 186272773 186272773 T C intronic SNX25 NA NA NA intronic ENSG00000109762 NA NA NA NA NA 4q35.1 NA NA NA NA rs3822302 0.44 0.44 0.458 0.453275 0.3419 0.2758 0.3761 0.7685 0.3793 0.33 0.33 0.38 0.79 0.3642 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 0.099656 NA NA 0.314419 0.683613 NA 0.507 NA 2.979481 1362 3 40231883 40231883 C T exonic MYRIP NA synonymous SNV MYRIP:NM_015460:exon10:c.C1594T:p.L532L exonic ENSG00000170011 NA synonymous SNV ENSG00000170011:ENST00000539167:exon8:c.C1033T:p.L345L,ENSG00000170011:ENST00000396217:exon9:c.C1327T:p.L443L,ENSG00000170011:ENST00000302541:exon10:c.C1594T:p.L532L,ENSG00000170011:ENST00000425621:exon10:c.C1594T:p.L532L,ENSG00000170011:ENST00000444716:exon10:c.C1594T:p.L532L,ENSG00000170011:ENST00000458292:exon10:c.C1594T:p.L532L NA NA 3p22.1 NA NA NA NA rs1317317 0.85 0.85 0.812 0.832468 0.9026 0.7996 0.9179 0.7511 0.8436 0.91 0.81 0.92 0.75 0.8845 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 -1.455454 NA NA 0.900233 0.774852 NA 0.775 NA 2.9793336 1362 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 1362 10 5925971 5925971 C A exonic ANKRD16 NA synonymous SNV ANKRD16:NM_001009941:exon4:c.G648T:p.G216G,ANKRD16:NM_001009943:exon4:c.G648T:p.G216G,ANKRD16:NM_019046:exon4:c.G648T:p.G216G exonic ENSG00000134461 NA synonymous SNV ENSG00000134461:ENST00000191063:exon4:c.G648T:p.G216G,ENSG00000134461:ENST00000380092:exon4:c.G648T:p.G216G,ENSG00000134461:ENST00000380094:exon4:c.G648T:p.G216G NA NA 10p15.1 NA NA NA NA rs631947 0.93 0.93 0.93 0.922524 0.8837 0.9504 0.9424 0.9523 0.8793 0.89 0.95 0.95 0.95 0.9061 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 -0.834429 NA NA 0.897907 0.950295 ID=COSM427709;OCCURENCE=1(breast) 0.862 NA 2.9789596 1362 9 136596397 136596397 G A intronic SARDH NA NA NA intronic ENSG00000123453 NA NA NA NA NA 9q34.2 NA NA NA NA rs916619 0.29 0.29 0.277 0.26897 0.3439 0.3363 0.2464 0.1596 0.2863 0.35 0.33 0.25 0.17 0.3261 0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.52054 1.52054 NA 0.351279 0.204721 NA 0.217 NA 2.978721 1362 4 5803633 5803633 C T intronic EVC NA NA NA intronic ENSG00000072840 NA NA NA NA NA 4p16.2 NA NA NA NA rs2306400 0.32 0.32 0.281 0.339856 0.328 0.5308 0.2939 0.0711 0.5511 0.33 0.53 0.3 0.08 0.3639 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087604 NA NA 0.329419 0.105084 NA 0.304 NA 2.978681 1362 1 202931839 202931839 G A intronic CYB5R1 NA NA NA intronic ENSG00000159348 NA NA NA NA NA 1q32.1 NA NA NA NA rs2232854 0.35 0.35 0.339 0.313698 0.3499 0.4296 0.3963 0.1831 0.2751 0.35 0.47 0.36 0.19 0.3279 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.832348 NA NA 0.343721 0.230822 NA 0.362 NA 2.978479 1362 11 118182829 118182829 T A intronic CD3E NA NA NA intronic ENSG00000198851 NA NA NA NA NA 11q23.3 NA NA NA NA rs1945765 0.38 0.38 0.362 0.378594 0.3419 0.5317 0.2478 0.2973 0.4611 0.33 0.55 0.28 0.32 0.3406 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.461839 NA NA 0.339269 0.295455 NA 0.37 NA 2.978231 1362 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 1362 5 150516887 150516887 G C intronic ANXA6 NA NA NA intronic ENSG00000197043 NA NA NA NA NA 5q33.1 NA Name=CTCF NA NA rs2303034 0.72 0.72 0.69 0.725839 0.667 0.878 0.6801 0.6573 0.7546 0.66 0.88 0.69 0.66 0.7023 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 1.028913 NA NA 0.652844 0.65289 NA 0.768 NA 2.977856 1362 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 1362 1 1563789 1563789 C A intronic MIB2 NA NA NA intronic ENSG00000197530 NA NA NA NA NA 1p36.33 NA NA NA NA rs74892851 0.18 0.18 0.186 0.150759 0.3579 0.0933 0.2032 0.0174 0.1401 0.34 0.08 0.24 0.02 0.286 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.588605 NA NA 0.378541 0.068283 NA 0.101 NA 2.977559 1362 15 89172558 89172558 G C exonic AEN NA synonymous SNV AEN:NM_022767:exon3:c.G642C:p.T214T exonic ENSG00000181026 NA synonymous SNV ENSG00000181026:ENST00000332810:exon3:c.G642C:p.T214T,ENSG00000181026:ENST00000379231:exon3:c.G642C:p.T214T NA NA 15q26.1 NA NA NA NA rs3743475 0.77 0.77 0.772 0.752396 0.9135 0.753 0.7695 0.5514 0.8456 0.91 0.77 0.79 0.54 0.8529 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 1.01531 NA NA 0.922889 0.575909 NA 0.848 NA 2.9773776 1362 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 1362 7 56174115 56174115 A C UTR5 CHCHD2 NM_016139:c.-9T>G NA NA UTR5 ENSG00000106153 ENST00000395422:c.-9T>G NA NA NA NA 7p11.2 NA Name=GR,TBP,ELK4,Pol2(b),NF-YB,YY1,Sin3Ak-20,SETDB1,Mxi1_(bHLH),Max,IRF1,SP1,c-Myc,HEY1,ELF1_(SC-631),NFKB,HMGN3,TAF1,Pol2-4H8,GABP,TAF7_(SQ-8),E2F6_(H-50),GTF2B,E2F6,Pol2(phosphoS2),Pol2,HA-E2F1,CHD2_(N-1250) NA NA rs10043 0.87 0.87 0.86 0.85024 0.7773 0.9286 0.7882 0.9349 0.774 0.8 0.93 0.79 0.96 0.8016 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 1.480683 1.480683 NA 0.777274 0.918974 NA 0.848 NA 2.9771594 1362 X 3530194 3530194 G T intronic PRKX NA NA NA intronic ENSG00000183943 NA NA NA NA NA Xp22.33 NA NA NA NA rs2287236 0.49 0.49 0.50954 NA NA NA NA NA NA 0.58 0.21 0.41 0.72 0.4756 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.152069 NA NA 0.547265 0.681877 NA 0.399 NA 2.977135 1362 19 45495682 45495682 A G intronic CLPTM1 NA NA NA intronic ENSG00000104853 NA NA NA NA NA 19q13.32 NA NA NA NA rs2075619 0.45 0.45 0.436 0.429313 0.341 0.5308 0.4207 0.4856 0.3456 0.35 0.53 0.45 0.52 0.3677 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.201418 NA NA 0.314186 0.484793 NA 0.449 NA 2.977114 1362 7 56174140 56174140 G T UTR5 CHCHD2 NM_016139:c.-34C>A NA NA UTR5 ENSG00000106153 ENST00000395422:c.-34C>A NA NA NA NA 7p11.2 NA Name=GR,TBP,Pol2(b),ELK4,c-Fos,NF-YB,YY1,Sin3Ak-20,SETDB1,Mxi1_(bHLH),Max,IRF1,SP1,c-Myc,ELF1_(SC-631),NF-YA,HEY1,NFKB,IRF3,TAF1,HMGN3,GABP,Pol2-4H8,TAF7_(SQ-8),GTF2B,E2F6,Pol2(phosphoS2),USF-1,Pol2,CHD2_(N-1250),HA-E2F1 NA NA rs816407 0.87 0.87 0.861 0.85004 0.7763 0.9286 0.7882 0.9349 0.774 0.8 0.93 0.79 0.96 0.8017 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 0.383907 NA NA 0.778256 0.91852 NA 0.841 NA 2.9770774 1362 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 1362 17 953737 953737 T C intronic ABR NA NA NA intronic ENSG00000159842 NA NA NA NA NA 17p13.3 NA NA NA NA rs2257222 0.31 0.31 0.296 0.342252 0.3241 0.3313 0.2233 0.3517 0.4438 0.34 0.3 0.24 0.35 0.3409 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.510573 NA NA 0.358488 0.358602 NA 0.225 NA 2.976512 1362 1 2537838 2537838 C T intronic MMEL1 NA NA NA intronic ENSG00000142606 NA NA NA NA NA 1p36.32 NA NA NA NA rs41300092 0.42 0.42 0.404 0.476038 0.3091 0.5337 0.4452 0.5356 0.5297 0.31 0.47 0.41 0.52 0.4 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.484277 NA NA 0.314754 0.50455 NA 0.391 NA 2.976146 1362 1 65830299 65830299 T G intronic DNAJC6 NA NA NA intronic ENSG00000116675 NA NA NA NA NA 1p31.3 NA NA NA NA rs2296479 NA NA NA 0.550319 0.5924 0.4692 0.5202 0.6626 0.4601 NA NA NA NA 0.4317 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.339216 NA NA NA NA NA NA NA 2.9759 1362 1 204516025 204516025 A G intronic MDM4 NA NA NA intronic ENSG00000198625 NA NA NA NA Name=Breast Cancer in BRCA1 mutation carriers 1q32.1 NA NA NA NA rs2290854 0.57 0.57 0.511 0.539337 0.6918 0.7024 0.611 0.2156 0.6012 0.7 0.69 0.59 0.23 0.6451 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 1.012291 NA NA 0.687791 0.291648 NA 0.529 NA 2.975309 1362 3 49135961 49135961 C G intronic QARS NA NA NA intronic ENSG00000172053 NA NA NA NA NA 3p21.31 NA NA Name=51 NA rs13064784 0.72 0.72 0.704 0.748403 0.663 0.9474 0.7608 0.5295 0.9182 0.66 0.93 0.76 0.54 0.7161 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 -1.854555 NA NA 0.645814 0.555833 NA 0.623 NA 2.975086 1363 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 1363 7 149511985 149511985 A G exonic SSPO NA nonsynonymous SNV SSPO:NM_198455:exon74:c.A10535G:p.N3512S ncRNA_exonic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs10952230 0.85 0.85 0.85 0.870807 0.825 0.7212 0.8213 0.9962 0.9376 0.84 0.77 0.83 0.99 0.862 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 1.083909 NA 0.77 0.83902 0.969518 NA 0.848 NA 2.97398 1363 12 48389023 48389023 C T intronic COL2A1 NA NA NA intronic ENSG00000139219 NA NA NA NA NA 12q13.11 NA NA NA NA rs10875716 0.18 0.18 0.157 0.160743 0.3658 0.0109 0.2089 0.0219 0.2577 0.38 0.01 0.22 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 0.095962 NA NA 0.367093 0.073536 NA 0.275 NA 2.973607 1363 5 159831803 159831803 A G intronic SLU7 NA NA NA intronic ENSG00000164609 NA NA NA NA NA 5q33.3 NA NA NA NA rs2961940 0.29 0.29 0.264 0.310304 0.33 0.1746 0.3818 0.2806 0.4192 0.33 0.16 0.37 0.3 0.3484 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.697499 NA NA 0.348221 0.332501 NA 0.355 NA 2.973379 1363 13 115037613 115037613 G A intronic CDC16 NA NA NA intronic ENSG00000130177 NA NA NA NA NA 13q34 NA NA NA NA rs2274638 0.53 0.53 0.579 0.553514 0.3469 0.5367 0.4625 0.8306 0.4734 0.34 0.59 0.46 0.82 0.3929 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 -1.112429 NA NA 0.286889 0.693199 NA 0.558 NA 2.973311 1363 10 46968762 46968762 C G intronic SYT15 NA NA NA intronic ENSG00000204176 NA NA NA NA NA 10q11.22 NA NA NA NA rs3127790 0.52 0.52 NA NA NA NA NA NA NA 0.53 0.51 0.52 0.53 0.5103 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.491053 NA NA 0.516589 0.541438 NA 0.514 NA 2.973111 1363 13 26125651 26125651 G A intronic ATP8A2 NA NA NA intronic ENSG00000132932 NA NA NA NA NA 13q12.13 NA NA NA NA rs34018109 0.2 0.2 0.206 0.168331 0.3837 0.004 0.219 0.1059 0.1646 0.38 0.0017 0.25 0.11 0.2825 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254859 NA NA 0.360971 0.127127 NA 0.167 NA 2.972829 1363 12 109278747 109278747 T G intronic DAO NA NA NA intronic ENSG00000110887 NA NA NA NA NA 12q24.11 NA NA NA NA rs2111902 0.45 0.45 0.439 0.487819 0.336 0.4831 0.5461 0.5998 0.456 0.33 0.49 0.52 0.55 0.391 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.047824 NA NA 0.300233 0.530413 ID=COSN164366;OCCURENCE=1(breast) 0.304 NA 2.972767 1363 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 1363 4 185941964 185941964 G A downstream HELT NA NA NA downstream ENSG00000187821 NA NA NA NA NA 4q35.1 NA NA NA NA rs6841359 0.18 0.18 0.178 0.188898 0.2455 0.127 0.2161 0.1286 0.2566 0.23 0.15 0.25 0.11 0.2184 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.340041 NA NA 0.230174 0.153757 NA 0.145 NA 2.9725926 1363 8 38848850 38848850 C T UTR3 TM2D2 NM_031940:c.*1G>A,NM_078473:c.*1G>A,NM_001024381:c.*1G>A,NM_001024380:c.*1G>A NA NA UTR3 ENSG00000169490 ENST00000412303:c.*1G>A,ENST00000456397:c.*1G>A,ENST00000456845:c.*1G>A,ENST00000397070:c.*1G>A NA NA NA NA 8p11.22 Score=821;Name=V$FREAC4_01 NA NA NA rs4733895 0.85 0.85 0.845 0.823283 0.8002 0.9484 0.8703 0.8389 0.6636 0.8 0.94 0.87 0.82 0.7959 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 4.030529 4.030529 NA 0.765116 0.826827 NA 0.855 NA 2.9721174 1363 19 30102856 30102856 A G intronic POP4 NA NA NA intronic ENSG00000105171 NA NA NA NA NA 19q12 NA NA NA NA rs2288477 0.33 0.33 0.304 0.297125 0.327 0.4603 0.317 0.1407 0.2955 0.32 0.52 0.32 0.12 0.3395 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265876 NA NA 0.361512 0.177258 NA 0.283 NA 2.971988 1363 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 1363 19 16633950 16633950 T C exonic CHERP NA synonymous SNV CHERP:NM_006387:exon11:c.A1893G:p.P631P exonic ENSG00000085872 NA synonymous SNV ENSG00000085872:ENST00000198939:exon11:c.A1926G:p.P642P,ENSG00000085872:ENST00000546361:exon11:c.A1893G:p.P631P NA NA 19p13.11 NA NA NA NA rs1043481 0.87 0.87 0.873 0.893371 0.8797 0.7212 0.8948 0.997 0.9438 0.89 0.74 0.9 0.99 0.8986 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 0.975485 NA NA 0.916726 0.983429 NA 0.935 NA 2.9716406 1363 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 1363 1 26689659 26689659 G A intronic ZNF683 NA NA NA intronic ENSG00000176083 NA NA NA NA NA 1p36.11 NA NA NA NA rs11247932 0.28 0.28 0.256 0.253994 0.341 0.2778 0.4193 0.0893 0.2454 0.35 0.26 0.4 0.11 0.3294 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.667608 NA NA 0.358488 0.146164 NA 0.246 NA 2.971112 1363 6 41037778 41037778 C T intronic OARD1 NA NA NA intronic ENSG00000124596 NA NA NA NA NA 6p21.1 NA NA NA NA rs2272986 0.35 0.35 0.358 0.396366 0.3201 0.2778 0.3617 0.559 0.4018 0.32 0.27 0.35 0.51 0.363 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.284086 NA NA 0.346047 0.516568 NA 0.355 NA 2.970853 1363 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 1363 7 107218033 107218033 T C UTR3 DUS4L NM_181581:c.*28T>C,NM_001270419:c.*28T>C NA NA UTR3 ENSG00000105865 ENST00000265720:c.*28T>C,ENST00000422290:c.*548T>C,ENST00000402620:c.*28T>C,ENST00000431839:c.*591T>C,ENST00000443233:c.*684T>C,ENST00000436411:c.*591T>C NA NA NA NA 7q22.3 NA NA NA NA rs711442 0.33 0.33 0.315 0.363818 0.4583 0.369 0.5043 0.0242 0.6207 0.44 0.36 0.48 0.03 0.4529 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.624073 1.624073 NA 0.451433 0.096427 NA 0.348 NA 2.9707004 1363 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 1363 14 77987958 77987958 C A intronic SPTLC2 NA NA NA exonic ENSG00000100596 NA nonsynonymous SNV ENSG00000100596:ENST00000556607:exon2:c.G98T:p.G33V NA NA 14q24.3 NA NA NA NA rs2072672 0.74 0.74 0.733 0.698682 0.7286 0.9226 0.6499 0.5477 0.6759 0.74 0.94 0.64 0.58 0.721 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 2.332856 2.332856 NA 0.746744 0.598729 NA 0.696 NA 2.9703227 1363 16 88781125 88781125 T C exonic CTU2 NA synonymous SNV CTU2:NM_001012759:exon12:c.T1332C:p.C444C,CTU2:NM_001012762:exon12:c.T1332C:p.C444C exonic ENSG00000174177 NA synonymous SNV ENSG00000174177:ENST00000567316:exon1:c.T36C:p.C12C,ENSG00000174177:ENST00000378384:exon11:c.T1071C:p.C357C,ENSG00000174177:ENST00000312060:exon12:c.T1332C:p.C444C,ENSG00000174177:ENST00000453996:exon12:c.T1332C:p.C444C,ENSG00000174177:ENST00000567949:exon12:c.T1545C:p.C515C NA NA 16q24.3 NA NA NA NA rs8043637 0.88 0.88 0.865 0.871805 0.8926 0.9405 0.8689 0.8192 0.8528 0.89 0.95 0.89 0.79 0.8929 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 -0.078006 NA NA 0.911075 0.840962 NA 0.746 NA 2.9700916 1363 6 4057429 4057429 A G intronic PRPF4B NA NA NA intronic ENSG00000112739 NA NA NA NA NA 6p25.2 NA NA Name=6 NA rs853408 0.72 0.72 0.738 0.720647 0.6511 0.7907 0.7305 0.7398 0.6871 0.66 0.78 0.73 0.73 0.7031 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 1.485655 1.485655 NA 0.676047 0.751702 NA 0.732 NA 2.969753 1363 12 29423583 29423583 A G intronic FAR2 NA NA NA intronic ENSG00000064763 NA NA NA NA NA 12p11.22 NA NA NA NA rs2194519 0.32 0.32 0.303 0.319089 0.334 0.381 0.2435 0.2965 0.3241 0.34 0.34 0.25 0.31 0.3283 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.648916 2.648916 NA 0.36814 0.29823 ID=COSN164201;OCCURENCE=1(breast) 0.384 NA 2.96956 1363 2 74128433 74128433 C T UTR5 ACTG2 NM_001199893:c.-6C>T,NM_001615:c.-6C>T NA NA UTR5 ENSG00000163017 ENST00000438902:c.-6C>T,ENST00000409731:c.-6C>T,ENST00000429756:c.-6C>T,ENST00000345517:c.-6C>T,ENST00000442912:c.-6C>T,ENST00000409918:c.-6C>T,ENST00000409624:c.-6C>T NA NA NA NA 2p13.1 Score=874;Name=V$YY1_01 NA NA NA rs1050146 0.73 0.73 0.683 0.707867 0.7992 0.5923 0.8516 0.6589 0.6973 0.8 0.58 0.83 0.72 0.7697 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 0.575274 NA NA 0.795 0.699955 NA 0.688 NA 2.9694334 1363 1 153588340 153588340 C T UTR5 S100A14 NM_020672:c.-6G>A NA NA UTR5 ENSG00000189334 ENST00000368702:c.-6G>A,ENST00000368701:c.-6G>A,ENST00000476873:c.-6G>A,ENST00000344616:c.-6G>A NA NA NA NA 1q21.3 NA NA NA NA rs11548103 0.34 0.34 0.363 0.33766 0.4851 0.3224 0.2983 0.23 0.3753 0.48 0.32 0.28 0.21 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 1.168108 NA NA 0.469302 0.281434 NA 0.297 NA 2.9694314 1363 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 1363 16 89656251 89656251 T C intronic CPNE7 NA NA NA intronic ENSG00000178773 NA NA NA NA NA 16q24.3 NA NA NA NA rs464349 0.55 0.55 0.473 0.59365 0.5089 0.7312 0.5231 0.497 0.7198 0.54 0.68 0.47 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 -0.774898 NA NA 0.521684 0.492775 NA 0.551 NA 2.969416 1363 2 113346512 113346512 A C UTR3 CHCHD5 NM_032309:c.*46A>C NA NA UTR3 ENSG00000125611 ENST00000324913:c.*46A>C,ENST00000454841:c.*317A>C,ENST00000409719:c.*2402A>C NA NA NA NA 2q13 NA NA Name=33 NA rs1047652 0.73 0.73 0.664 0.759385 0.7753 0.6726 0.7752 0.7791 0.7945 0.77 0.64 0.78 0.76 0.784 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 -1.07348 NA NA 0.805349 0.774626 NA 0.833 NA 2.9686844 1363 14 96103099 96103099 A G intergenic GLRX5,TCL6 dist=92044;dist=14416 NA NA ncRNA_intronic ENSG00000258927 NA NA NA NA NA 14q32.13 NA Name=Rad21 NA NA rs4905366 0.45 0.45 0.404 0.428714 0.7097 0.1915 0.6009 0.27 0.4765 0.71 0.18 0.59 0.26 0.5969 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 -0.8013 NA NA 0.725264 0.34532 NA 0.471 NA 2.968136 1363 19 5595354 5595354 T C intronic SAFB2 NA NA NA intronic ENSG00000130254 NA NA NA NA NA 19p13.3 NA NA Name=3 NA rs10413286 0.79 0.79 0.794 0.809305 0.6521 0.8879 0.755 0.9039 0.8006 0.66 0.91 0.73 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 0.297902 NA NA 0.649884 0.86246 NA 0.79 NA 2.968116 1363 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 1363 6 4057233 4057233 C T intronic PRPF4B NA NA NA intronic ENSG00000112739 NA NA NA NA NA 6p25.2 NA Name=MafK_(ab50322) NA NA rs853407 0.72 0.72 0.74 0.721246 0.6511 0.7907 0.7305 0.7421 0.6871 0.66 0.78 0.73 0.74 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 -1.037089 NA NA 0.676676 0.751477 NA 0.79 NA 2.967924 1363 15 42109975 42109975 T G intronic MAPKBP1 NA NA NA intronic ENSG00000137802 NA NA NA NA NA 15q15.1 NA NA NA NA rs2303518 0.29 0.29 0.275 0.298323 0.3559 0.1915 0.4337 0.2126 0.3691 0.37 0.17 0.41 0.23 0.3405 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.506598 NA NA 0.335776 0.232516 NA 0.181 NA 2.967824 1363 19 56162776 56162776 C T exonic CCDC106 NA synonymous SNV CCDC106:NM_013301:exon5:c.C441T:p.S147S exonic ENSG00000173581 NA synonymous SNV ENSG00000173581:ENST00000591241:exon3:c.C336T:p.S112S,ENSG00000173581:ENST00000586790:exon4:c.C441T:p.S147S,ENSG00000173581:ENST00000308964:exon5:c.C441T:p.S147S,ENSG00000173581:ENST00000588740:exon5:c.C441T:p.S147S,ENSG00000173581:ENST00000591578:exon5:c.C441T:p.S147S,ENSG00000173581:ENST00000592996:exon5:c.C441T:p.S147S NA NA 19q13.42 NA NA NA NA rs2287791 0.81 0.81 0.818 0.789337 0.9026 0.6984 0.928 0.6649 0.8364 0.91 0.74 0.92 0.66 0.8773 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 -0.871413 NA NA 0.919302 0.69768 ID=COSM1396634;OCCURENCE=1(large_intestine) 0.783 NA 2.9674646 1363 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 1363 21 43547788 43547788 T C exonic UMODL1 NA synonymous SNV UMODL1:NM_001199527:exon19:c.T3705C:p.P1235P,UMODL1:NM_173568:exon19:c.T3921C:p.P1307P,UMODL1:NM_001004416:exon20:c.T3537C:p.P1179P,UMODL1:NM_001199528:exon20:c.T3321C:p.P1107P exonic ENSG00000177398 NA synonymous SNV ENSG00000177398:ENST00000400427:exon19:c.T3705C:p.P1235P,ENSG00000177398:ENST00000408989:exon19:c.T3921C:p.P1307P,ENSG00000177398:ENST00000400424:exon20:c.T3321C:p.P1107P,ENSG00000177398:ENST00000408910:exon20:c.T3537C:p.P1179P NA NA 21q22.3 NA NA NA NA rs220158 0.83 0.83 0.823 0.815296 0.9066 0.7579 0.8876 0.7844 0.771 0.9 0.78 0.85 0.79 0.8748 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 -1.560072 NA NA 0.918399 0.791252 NA 0.855 NA 2.9668676 1363 1 157670290 157670290 C G UTR5 FCRL3 NM_052939:c.-11G>C NA NA UTR5 ENSG00000160856 ENST00000485028:c.-11G>C,ENST00000368186:c.-11G>C,ENST00000492769:c.-11G>C,ENST00000477837:c.-11G>C,ENST00000368184:c.-11G>C,ENST00000496769:c.-11G>C NA NA NA NA 1q23.1 NA NA NA NA rs945635 0.56 0.56 0.558 0.543331 0.4742 0.4355 0.4539 0.9175 0.2832 0.47 0.42 0.5 0.9 0.454 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 -0.866429 NA NA 0.438372 0.850431 NA 0.572 NA 2.9667614 1363 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 1363 10 71144702 71144702 G A intronic HK1 NA NA NA intronic ENSG00000156515 NA NA NA NA NA 10q22.1 NA Name=GATA3_(SC-268) NA NA rs749105 0.65 0.65 0.638 0.655551 0.6789 0.5179 0.5605 0.8033 0.6411 0.67 0.52 0.6 0.82 0.6702 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 -0.371875 NA NA 0.684302 0.788697 NA 0.601 NA 2.966598 1363 3 10219510 10219510 C T intronic IRAK2 NA NA NA intronic ENSG00000134070 NA NA NA NA NA 3p25.3 NA NA NA NA rs1711109 0.18 0.18 0.155 0.142173 0.3598 0.0069 0.2017 0.0787 0.1012 0.37 0.01 0.22 0.07 0.2837 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265464 NA NA 0.390233 0.121879 NA 0.159 NA 2.966267 1363 1 27690644 27690644 A G intronic MAP3K6 NA NA NA intronic ENSG00000142733 NA NA NA NA NA 1p36.11 NA NA NA NA rs12727507 0.35 0.35 0.377 0.354832 0.341 0.1012 0.2824 0.7307 0.1738 0.33 0.13 0.29 0.68 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 -1.380947 NA NA 0.361965 0.649386 NA 0.42 NA 2.966135 1363 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 1363 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 1363 2 234130 234130 T G intronic SH3YL1 NA NA NA intronic ENSG00000035115 NA NA NA NA NA 2p25.3 NA NA NA NA rs3748872 0.36 0.36 0.346 0.3127 0.3598 0.5833 0.2522 0.1498 0.2485 0.37 0.61 0.26 0.14 0.331 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.651094 1.651094 NA 0.343857 0.178435 NA 0.312 NA 2.965343 1363 20 2413125 2413125 C T intronic TGM6 NA NA NA intronic ENSG00000166948 NA NA NA NA NA 20p13 NA NA NA NA rs2076653 0.42 0.42 0.359 0.513179 0.3608 0.5327 0.4352 0.6581 0.5092 0.32 0.48 0.37 0.54 0.4175 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802767 NA NA 0.256512 0.522696 NA NA NA 2.965188 1363 11 47201924 47201924 G A intronic PACSIN3 NA NA NA intronic ENSG00000165912 NA NA NA NA NA 11p11.2 NA NA NA NA rs11039119 0.44 0.44 0.414 0.385184 0.339 0.7183 0.3818 0.2322 0.2986 0.35 0.7 0.38 0.32 0.3688 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 1.152553 NA NA 0.327013 0.267378 NA 0.254 NA 2.965187 1363 3 49004723 49004723 A G intronic ARIH2 NA NA NA intronic ENSG00000177479 NA NA NA NA NA 3p21.31 NA NA Name=15 NA rs6446196 0.73 0.73 0.702 0.772364 0.665 0.9514 0.768 0.6112 0.9192 0.66 0.93 0.77 0.6 0.723 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 0.9401 NA NA 0.64686 0.62256 NA 0.63 NA 2.96514 1364 19 32873698 32873698 A G exonic ZNF507 NA synonymous SNV ZNF507:NM_014910:exon6:c.A2571G:p.S857S,ZNF507:NM_001136156:exon7:c.A2571G:p.S857S exonic ENSG00000168813 NA synonymous SNV ENSG00000168813:ENST00000311921:exon6:c.A2571G:p.S857S,ENSG00000168813:ENST00000355898:exon7:c.A2571G:p.S857S,ENSG00000168813:ENST00000544431:exon8:c.A2583G:p.S861S NA NA 19q13.11 NA NA NA NA rs2270399 0.91 0.91 0.911 0.911741 0.9056 0.8234 0.9222 0.9962 0.8875 0.9 0.82 0.94 0.99 0.8988 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 -1.153067 NA NA 0.897326 0.9798 NA 0.92 NA 2.9649406 1364 20 60909060 60909060 A G exonic LAMA5 NA synonymous SNV LAMA5:NM_005560:exon23:c.T2775C:p.P925P exonic ENSG00000130702 NA synonymous SNV ENSG00000130702:ENST00000252999:exon23:c.T2775C:p.P925P NA NA 20q13.33 NA NA NA NA rs13038331 0.81 0.81 0.784 0.756589 0.9165 0.9365 0.8069 0.4486 0.7873 0.91 0.95 0.81 0.48 0.8586 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 -0.517748 NA NA 0.926775 0.543409 NA 0.674 NA 2.9647916 1364 16 56686470 56686470 C T intronic MT1B NA NA NA ncRNA_intronic ENSG00000259923 NA NA NA NA NA 16q12.2 NA NA NA NA rs12051311 0.47 0.47 0.421 0.44369 0.4672 0.5605 0.5303 0.2731 0.4683 0.46 0.59 0.52 0.29 0.4523 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802886 NA NA 0.449884 0.283212 NA 0.391 NA 2.9639493 1364 6 25769349 25769349 T C exonic SLC17A4 NA synonymous SNV SLC17A4:NM_005495:exon3:c.T228C:p.A76A exonic ENSG00000146039 NA synonymous SNV ENSG00000146039:ENST00000377905:exon3:c.T228C:p.A76A,ENSG00000146039:ENST00000397076:exon3:c.T66C:p.A22A,ENSG00000146039:ENST00000439485:exon3:c.T228C:p.A76A NA NA 6p22.2 NA NA NA NA rs1892251 0.87 0.87 0.866 0.877796 0.9056 0.9851 0.9049 0.6914 0.9714 0.9 0.98 0.9 0.68 0.9051 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 0.608968 NA NA 0.892674 0.71902 NA 0.775 NA 2.9632926 1364 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 1364 2 3749267 3749267 G A intronic ALLC NA NA NA intronic ENSG00000151360 NA NA NA NA NA 2p25.3 NA NA NA NA rs11681270 0.31 0.31 0.309 0.294728 0.3708 0.2411 0.219 0.3638 0.2321 0.37 0.25 0.24 0.33 0.3236 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.082548 NA NA 0.344234 0.359383 NA 0.406 NA 2.961366 1364 6 24454196 24454196 G T intronic GPLD1 NA NA NA intronic ENSG00000112293 NA NA NA NA NA 6p22.3 NA NA NA NA rs9393558 0.37 0.37 0.353 0.38139 0.327 0.4812 0.4582 0.292 0.4008 0.33 0.47 0.44 0.27 0.3734 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04838 NA NA 0.338256 0.327281 NA 0.37 NA 2.961344 1364 6 34791027 34791027 A G intronic UHRF1BP1 NA NA NA intronic ENSG00000065060 NA NA NA NA NA 6p21.31 NA NA NA NA rs7774697 0.45 0.45 0.454 0.454273 0.336 0.4573 0.3098 0.736 0.2945 0.33 0.46 0.32 0.73 0.3594 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 1.565789 1.565789 NA 0.343266 0.632145 NA 0.406 NA 2.961334 1364 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 1364 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 1364 3 49053219 49053219 A G UTR3 WDR6 NM_018031:c.*498A>G NA NA UTR3 ENSG00000178252 ENST00000395474:c.*498A>G NA NA NA NA 3p21.31 NA NA Name=9 NA rs7100 0.88 0.88 0.867 0.905351 0.7863 1 0.8646 0.9032 0.9622 0.78 1 0.86 0.9 0.828 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.163153 NA NA 0.757907 0.87744 NA 0.906 NA 2.9611264 1364 13 34837076 34837076 C T intergenic RFC3,LINC00457 dist=296381;dist=172515 NA NA intergenic ENSG00000199196,ENSG00000271850 dist=162101;dist=85104 NA NA NA NA 13q13.2 NA NA NA NA rs7984761 0.27 0.27 0.258 0.280751 0.3728 0.2133 0.2291 0.2292 0.362 0.38 0.19 0.28 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 -0.710326 NA NA NA NA NA 0.239 NA 2.9605334 1364 12 53433486 53433486 C T exonic EIF4B NA synonymous SNV EIF4B:NM_001417:exon14:c.C1755T:p.S585S exonic ENSG00000063046 NA synonymous SNV ENSG00000063046:ENST00000416762:exon13:c.C1638T:p.S546S,ENSG00000063046:ENST00000262056:exon14:c.C1755T:p.S585S,ENSG00000063046:ENST00000420463:exon14:c.C1770T:p.S590S NA NA 12q13.13 NA NA NA NA rs8916 0.79 0.79 0.764 0.753794 0.9095 0.7946 0.9121 0.4539 0.8446 0.9 0.82 0.9 0.49 0.8694 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 -0.578474 NA NA 0.927346 0.529818 NA 0.775 NA 2.9604206 1364 1 25098341 25098341 C T intronic CLIC4 NA NA NA intronic ENSG00000169504 NA NA NA NA NA 1p36.11 NA NA Name=10 NA rs7548438 0.58 0.58 0.56 0.541334 0.7008 0.5159 0.6974 0.3555 0.544 0.7 0.56 0.66 0.37 0.6422 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 -1.290227 NA NA 0.697388 0.433219 NA 0.616 NA 2.959612 1364 17 61790917 61790917 G C intronic STRADA NA NA NA intronic ENSG00000125695,ENSG00000266173 NA NA NA NA NA 17q23.3 NA NA NA NA rs16947051 0.36 0.36 0.321 0.395168 0.329 0.5089 0.4452 0.1785 0.6033 0.34 0.53 0.4 0.18 0.3836 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.712645 NA NA 0.328372 0.206764 NA 0.37 NA 2.959028 1364 1 235357543 235357543 A G intronic ARID4B NA NA NA intronic ENSG00000054267 NA NA NA NA NA 1q42.3 NA NA NA NA rs10802438 0.27 0.27 0.228 0.290335 0.3559 0.2282 0.4063 0.0469 0.5337 0.37 0.25 0.38 0.06 0.368 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.698312 1.698312 NA 0.317167 0.081971 NA 0.297 NA 2.958933 1364 10 50723684 50723684 G A exonic CSB-PGBD3,PGBD3 NA synonymous SNV PGBD3:NM_170753:exon2:c.C1477T:p.L493L,CSB-PGBD3:NM_001277058:exon6:c.C2881T:p.L961L,CSB-PGBD3:NM_001277059:exon6:c.C2881T:p.L961L exonic ENSG00000243251,ENSG00000258838 NA synonymous SNV ENSG00000243251:ENST00000508005:exon1:c.C1477T:p.L493L,ENSG00000243251:ENST00000374127:exon2:c.C1477T:p.L493L,ENSG00000258838:ENST00000447839:exon6:c.C2881T:p.L961L,ENSG00000258838:ENST00000515869:exon6:c.C2881T:p.L961L,ENSG00000243251:ENST00000603152:exon6:c.C2881T:p.L961L NA NA 10q11.23 NA NA NA NA rs4253073 0.88 0.88 0.866 0.893371 0.8966 0.999 0.9409 0.7345 0.9622 0.89 1 0.92 0.69 0.907 1 NA NA 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 0.904302 0.741262 NA 0.841 NA 2.9587646 1364 7 23191664 23191664 G A intronic KLHL7 NA NA NA intronic ENSG00000122550 NA NA NA NA NA 7p15.3 NA NA NA NA rs2141306 0.43 0.43 0.46 0.428914 0.335 0.3542 0.3055 0.7526 0.2526 0.32 0.33 0.35 0.77 0.3505 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 1.604011 1.604011 NA 0.355814 0.666818 NA 0.435 NA 2.958686 1364 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 1364 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 1364 10 118396278 118396278 G T intronic PNLIPRP2 NA NA NA intronic ENSG00000165862 NA NA NA NA NA 10q25.3 NA NA NA NA rs11197776 0.52 0.52 NA 0.478235 0.498 0.6409 0.5029 0.3616 0.4305 0.52 0.66 0.52 0.35 0.5447 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 -1.485462 NA NA NA NA NA 0.37 NA 2.9573 1364 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 1364 20 60907446 60907446 T C exonic LAMA5 NA synonymous SNV LAMA5:NM_005560:exon28:c.A3534G:p.E1178E exonic ENSG00000130702 NA synonymous SNV ENSG00000130702:ENST00000252999:exon28:c.A3534G:p.E1178E NA NA 20q13.33 NA NA NA NA rs2151513 0.78 0.78 0.746 0.731629 0.9225 0.9375 0.804 0.3427 0.7975 0.92 0.95 0.81 0.35 0.857 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 -1.374767 NA NA 0.931628 0.45143 ID=COSM1412945;OCCURENCE=1(large_intestine) 0.638 NA 2.9555386 1365 7 134262441 134262441 T C intronic AKR1B15 NA NA NA intronic ENSG00000227471 NA NA NA NA NA 7q33 NA NA NA NA rs10241998 0.34 0.34 0.366 0.336262 0.339 0.1458 0.3112 0.562 0.2423 0.34 0.15 0.3 0.57 0.3622 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.184705 NA NA 0.344535 0.512256 NA 0.493 NA 2.954265 1365 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 1365 10 124096209 124096209 C T intronic BTBD16 NA NA NA intronic ENSG00000138152 NA NA NA NA NA 10q26.13 NA NA NA NA rs3817284 0.47 0.47 0.453 0.459465 0.327 0.6915 0.487 0.3964 0.4223 0.33 0.7 0.46 0.42 0.3968 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 0.44346 NA NA 0.322791 0.361099 NA 0.435 NA 2.953409 1365 7 137092781 137092781 T C intronic DGKI NA NA NA intronic ENSG00000157680 NA NA NA NA NA 7q33 NA NA Name=5 NA rs7800454 0.71 0.71 0.7 0.727037 0.67 0.7222 0.7925 0.7564 0.7045 0.67 0.71 0.77 0.75 0.7012 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 1.004795 NA NA 0.675465 0.754199 NA 0.732 NA 2.953335 1365 11 123454978 123454978 T C intronic GRAMD1B NA NA NA intronic ENSG00000023171 NA NA NA NA NA 11q24.1 NA NA NA NA rs58457879 0.38 0.38 0.341 0.372005 0.3668 0.499 0.3545 0.3154 0.3354 0.36 0.51 0.31 0.31 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 -0.807739 NA NA 0.310413 0.296958 NA 0.406 NA 2.952987 1365 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 1365 11 10823079 10823079 T C ncRNA_exonic SNORD97 NA NA NA ncRNA_exonic ENSG00000238622,ENSG00000255125 NA NA NA NA NA 11p15.3 NA NA NA NA rs10840492 0.49 0.49 0.431 0.494808 0.5636 0.5764 0.6614 0.1293 0.7157 0.56 0.6 0.63 0.15 0.5814 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.214643 NA NA 0.569018 0.180778 NA 0.449 NA 2.9526486 1365 4 155243573 155243573 C T exonic DCHS2 NA synonymous SNV DCHS2:NM_017639:exon13:c.G2721A:p.S907S exonic ENSG00000197410 NA synonymous SNV ENSG00000197410:ENST00000357232:exon13:c.G2721A:p.S907S NA NA 4q31.3 NA NA NA NA rs13109747 0.79 0.79 0.758 0.788938 0.9105 0.8849 0.9135 0.4501 0.9346 0.91 0.87 0.92 0.42 0.8884 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 -0.902855 NA NA 0.915581 0.526782 NA 0.804 NA 2.9521856 1365 22 41657626 41657626 C T intronic RANGAP1 NA NA NA intronic ENSG00000100401 NA NA NA NA NA 22q13.2 NA NA NA NA rs2235850 0.4 0.4 0.33 0.395567 0.3419 0.5466 0.5937 0.2133 0.4008 0.35 0.5 0.58 0.25 0.3771 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.365803 2.365803 NA 0.32907 0.233999 NA 0.399 NA 2.95193 1365 9 5923326 5923326 C T intronic KIAA2026 NA NA NA intronic ENSG00000183354 NA NA NA NA NA 9p24.1 Score=877;Name=V$TATA_01 NA NA NA rs7045445 0.56 0.56 0.558 0.508387 0.6859 0.5089 0.5548 0.3162 0.5521 0.7 0.54 0.6 0.35 0.6407 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278432 NA NA 0.721782 0.380145 NA 0.486 NA 2.951618 1365 15 90760991 90760991 T C intronic SEMA4B NA NA NA intronic ENSG00000185033 NA NA NA NA NA 15q26.1 NA NA NA NA rs1543116 0.36 0.36 0.361 0.334864 0.3698 0.1806 0.3026 0.5318 0.2147 0.38 0.21 0.34 0.52 0.3416 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591979 NA NA 0.337828 0.467638 ID=COSM147981;OCCURENCE=1(stomach) 0.464 NA 2.950772 1365 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 1365 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 1365 5 137763615 137763615 A C intronic KDM3B NA NA NA intronic ENSG00000120733 NA NA NA NA NA 5q31.2 NA NA NA NA rs2240334 0.29 0.29 0.263 0.290935 0.336 0.2718 0.4164 0.1067 0.4243 0.34 0.31 0.4 0.11 0.3502 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.267243 1.267243 NA 0.365233 0.162733 ID=COSN167560;OCCURENCE=1(large_intestine) 0.203 NA 2.948567 1365 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 1365 7 150500455 150500455 A G intronic TMEM176A NA NA NA intronic ENSG00000002933 NA NA NA NA NA 7q36.1 NA NA Name=6 NA rs741067 0.74 0.74 0.767 0.74381 0.6829 0.7599 0.6484 0.7935 0.7904 0.69 0.8 0.69 0.79 0.6997 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 1.954879 1.954879 NA 0.668953 0.756922 NA 0.652 NA 2.948447 1365 18 8343530 8343530 G A intronic PTPRM NA NA NA intronic ENSG00000173482 NA NA NA NA NA 18p11.23 NA NA NA NA rs2279074 0.23 0.23 0.205 0.213858 0.3529 0.1438 0.3069 0.0847 0.2515 0.35 0.14 0.31 0.1 0.3213 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.334906 NA NA 0.377442 0.138675 ID=COSN165575;OCCURENCE=1(breast) 0.254 NA 2.948358 1365 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 1365 10 32575793 32575793 A G intronic EPC1 NA NA NA intronic ENSG00000120616 NA NA NA NA NA 10p11.22 Score=880;Name=V$PAX4_02 NA NA NA rs2986931 0.63 0.63 0.611 0.59405 0.6859 0.756 0.5994 0.4062 0.5828 0.69 0.74 0.6 0.42 0.6671 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.141784 2.141784 NA 0.698721 0.443713 NA 0.674 NA 2.948279 1365 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 1365 9 138591266 138591266 A G exonic SOHLH1 NA synonymous SNV SOHLH1:NM_001012415:exon1:c.T48C:p.P16P,SOHLH1:NM_001101677:exon1:c.T48C:p.P16P exonic ENSG00000165643 NA synonymous SNV ENSG00000165643:ENST00000298466:exon1:c.T48C:p.P16P,ENSG00000165643:ENST00000425225:exon1:c.T48C:p.P16P NA NA 9q34.3 NA NA NA NA rs559326 0.82 0.82 0.811 0.813898 0.9215 0.6667 0.8314 0.7716 0.8998 0.93 0.72 0.83 0.74 0.881 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 0.07013 NA NA 0.916434 0.80214 NA 0.638 NA 2.9477326 1365 1 44035472 44035472 G A intronic PTPRF NA NA NA intronic ENSG00000142949 NA NA NA NA NA 1p34.2 NA NA NA NA rs943513 0.32 0.32 0.313 0.249401 0.3579 0.2143 0.2464 0.2927 0.1176 0.36 0.26 0.31 0.33 0.326 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694535 NA NA 0.368488 0.297095 NA 0.413 NA 2.947612 1365 17 43923898 43923898 A G exonic SPPL2C NA synonymous SNV SPPL2C:NM_175882:exon1:c.A1626G:p.S542S exonic ENSG00000185294 NA synonymous SNV ENSG00000185294:ENST00000329196:exon1:c.A1626G:p.S542S NA NA 17q21.31 NA NA NA NA rs171443 0.89 0.89 0.862 0.885383 0.9165 1 0.9164 0.6876 0.9806 0.92 1 0.9 0.7 0.9058 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.059442 NA NA 0.897093 0.734226 NA 0.913 NA 2.9472736 1365 14 95057270 95057270 G A intronic SERPINA5 NA NA NA intronic ENSG00000188488 NA NA NA NA NA 14q32.13 NA NA Name=4 NA rs6107 0.64 0.64 0.669 0.630591 0.6809 0.4067 0.4712 0.9425 0.501 0.69 0.37 0.51 0.95 0.6552 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 -0.270084 NA NA 0.717326 0.901271 NA 0.761 NA 2.946574 1365 2 232326801 232326801 A T intronic NCL NA NA NA intronic ENSG00000115053 NA NA NA NA NA 2q37.1 NA Name=Pol2-4H8 NA NA rs2595514 0.71 0.71 0.719 0.736422 0.6948 0.7847 0.6427 0.677 0.8763 0.69 0.79 0.68 0.65 0.6956 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 -0.541886 NA NA 0.663235 0.694635 NA 0.688 NA 2.946365 1365 17 11550340 11550340 T C intronic DNAH9 NA NA NA intronic ENSG00000007174 NA NA NA NA NA 17p12 NA NA NA NA rs11870495 0.3 0.3 0.29 0.298323 0.3569 0.2421 0.245 0.3177 0.3078 0.34 0.2 0.28 0.35 0.3346 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.052397 NA NA 0.362674 0.323196 NA 0.275 NA 2.945826 1365 3 42599234 42599234 C T intronic SEC22C NA NA NA intronic ENSG00000093183 NA NA NA NA NA 3p22.1 NA NA NA NA rs2271185 0.49 0.49 0.512 0.535343 0.337 0.5784 0.2983 0.7973 0.5092 0.35 0.56 0.3 0.78 0.3923 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 2.114476 2.114476 NA 0.325 0.711303 NA 0.478 NA 2.9457 1365 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 1365 13 114507836 114507836 A G intronic TMEM255B NA NA NA intronic ENSG00000184497 NA NA NA NA NA 13q34 NA Name=CTCF NA NA rs7323732 0.76 0.76 0.715 0.785942 0.6909 0.8591 0.7219 0.8253 0.8006 0.69 0.85 0.72 0.79 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 0.108377 NA NA 0.656163 0.780881 NA 0.667 NA 2.945437 1366 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 1366 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 1366 14 95058360 95058360 A G intronic SERPINA5 NA NA NA intronic ENSG00000188488 NA NA NA NA NA 14q32.13 NA Name=CTCF NA NA rs6109 0.64 0.64 0.688 0.63099 0.6809 0.4067 0.4712 0.9433 0.502 0.69 0.37 0.51 0.95 0.6571 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 0.305762 NA NA 0.717558 0.900817 NA 0.804 NA 2.944442 1366 10 127460753 127460753 G A intronic MMP21 NA NA NA intronic ENSG00000154485 NA NA NA NA NA 10q26.13 NA NA NA NA rs7922546 0.27 0.27 0.28 0.254393 0.3708 0.1667 0.2824 0.1785 0.3078 0.38 0.18 0.28 0.19 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 0.278972 NA NA 0.35314 0.20631 ID=COSN163806;OCCURENCE=1(breast) 0.377 NA 2.94426 1366 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 1366 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 1366 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 1366 2 88396080 88396080 A C intronic SMYD1 NA NA NA intronic ENSG00000115593 NA NA NA NA NA 2p11.2 NA NA NA NA rs2919883 0.31 0.31 0.306 0.313898 0.3559 0.1627 0.2579 0.4244 0.317 0.35 0.17 0.3 0.43 0.3362 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.277166 NA NA 0.364651 0.405356 NA 0.413 NA 2.943249 1366 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 1366 10 118313265 118313265 T C exonic PNLIP NA synonymous SNV PNLIP:NM_000936:exon6:c.T486C:p.N162N exonic ENSG00000175535 NA synonymous SNV ENSG00000175535:ENST00000369221:exon6:c.T486C:p.N162N NA NA 10q25.3 NA NA NA NA rs2915748 0.83 0.83 0.836 0.842652 0.9225 0.6667 0.8444 0.8578 0.9202 0.93 0.64 0.84 0.9 0.8816 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 0.096933 NA NA 0.919767 0.874035 NA 0.826 NA 2.9427996 1366 19 10103583 10103583 C T intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs2010448 0.44 0.44 0.442 0.441294 0.332 0.4435 0.3876 0.6377 0.3241 0.32 0.44 0.4 0.65 0.3778 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.08408 NA NA 0.347558 0.59714 NA 0.413 NA 2.942642 1366 19 48801426 48801426 T C intronic CCDC114 NA NA NA intronic ENSG00000105479 NA NA NA NA NA 19q13.33 NA NA NA NA rs8111947 0.32 0.32 0.355 0.304313 0.3708 0.127 0.2219 0.4508 0.2791 0.37 0.15 0.24 0.5 0.3261 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.667226 NA NA 0.36093 0.447118 NA 0.442 NA 2.94217 1366 17 48265426 48265426 A G intronic COL1A1 NA NA NA intronic ENSG00000108821 NA NA NA NA NA 17q21.33 NA NA Name=9 NA rs2586488 0.62 0.62 0.594 0.611222 0.6869 0.5 0.7133 0.5696 0.6319 0.7 0.52 0.74 0.55 0.6727 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.239473 1.239473 NA 0.698605 0.580118 NA 0.63 NA 2.941795 1366 22 51015481 51015481 G A ncRNA_intronic CHKB-CPT1B NA NA NA intronic ENSG00000205560,ENSG00000254413 NA NA NA NA NA 22q13.33 NA NA NA NA rs131759 0.38 0.38 0.345 0.339657 0.4831 0.4623 0.4366 0.0787 0.3497 0.47 0.47 0.43 0.1 0.4367 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.137794 NA NA 0.472093 0.145256 NA 0.449 NA 2.9414403 1366 16 84089767 84089767 C T intronic MBTPS1 NA NA NA intronic ENSG00000140943 NA NA NA NA NA 16q23.3 NA NA NA NA rs17849043 0.38 0.38 0.368 0.365615 0.3519 0.4137 0.428 0.3283 0.3364 0.35 0.42 0.41 0.35 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 0.094463 NA NA 0.345233 0.333409 NA 0.333 NA 2.941267 1366 17 48271433 48271433 A G intronic COL1A1 NA NA NA intronic ENSG00000108821 NA NA NA NA NA 17q21.33 NA NA Name=6 NA rs1007086 0.61 0.61 0.56 0.575879 0.6958 0.5169 0.7118 0.4493 0.5879 0.71 0.52 0.74 0.47 0.6569 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.379214 1.379214 NA 0.706047 0.510667 NA 0.572 NA 2.941253 1366 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 1366 22 51018579 51018579 A G ncRNA_intronic CHKB-CPT1B NA NA NA intronic ENSG00000100288 NA NA NA NA NA 22q13.33 NA NA NA NA rs140514 0.39 0.39 0.362 0.344848 0.4791 0.4683 0.4424 0.0923 0.3517 0.47 0.48 0.44 0.12 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 -1.794287 NA NA 0.47593 0.158193 NA 0.449 NA 2.9408033 1366 19 38709568 38709568 C T intronic DPF1 NA NA NA intronic ENSG00000011332 NA NA NA Score=546;Name=lod=221 NA 19q13.2 NA NA NA NA rs2255456 0.8 0.8 0.813 0.825679 0.667 0.8829 0.7637 0.9713 0.7771 0.68 0.89 0.73 0.96 0.7322 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 0.966804 NA NA 0.66 0.920563 NA 0.833 NA 2.9408 1366 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 1366 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 1366 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 1366 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 1366 17 76565341 76565341 G A intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA NA NA rs72920970 0.31 0.31 0.272 0.285942 0.3628 0.2956 0.4755 0.1581 0.2352 0.36 0.3 0.44 0.15 0.3618 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144006 NA NA 0.335698 0.204267 NA 0.29 NA 2.939702 1366 12 57112637 57112637 G A intronic NACA NA NA NA exonic ENSG00000196531 NA synonymous SNV ENSG00000196531:ENST00000454682:exon3:c.C2677T:p.L893L NA NA 12q13.3 NA NA NA NA rs11171951 0.6 0.6 0.532 0.605631 0.6203 0.7401 0.6643 0.3343 0.7771 0.61 0.75 0.68 0.35 0.6561 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 -0.502621 NA NA 0.617277 0.410543 NA 0.493 NA 2.9396563 1366 12 103298517 103298517 A G intronic PAH NA NA NA intronic ENSG00000171759 NA NA NA NA NA 12q23.2 NA NA NA NA rs1522307 0.42 0.42 0.411 0.435903 0.3469 0.2004 0.5115 0.7345 0.3129 0.32 0.2 0.51 0.76 0.3689 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 -0.778535 NA NA 0.34455 0.674658 NA 0.399 NA 2.93965 1366 5 112676191 112676191 A G intronic MCC NA NA NA ncRNA_intronic ENSG00000232633 NA NA NA NA NA 5q22.2 NA NA NA NA rs10900684 0.49 0.49 0.481 0.482029 0.4622 0.2024 0.5476 0.7988 0.316 0.47 0.2 0.51 0.82 0.4645 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 0.428124 NA NA 0.467197 0.77247 NA 0.558 NA 2.9394363 1366 6 2953252 2953252 T C intronic SERPINB6 NA NA NA intronic ENSG00000124570 NA NA NA NA NA 6p25.2 NA Name=CTCF,E2F6,Pol2,HA-E2F1,ZBTB7A_(SC-34508) NA NA rs2244693 0.67 0.67 0.64 0.665535 0.7068 0.7887 0.7334 0.4894 0.6861 0.7 0.81 0.71 0.44 0.6759 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 -0.048255 NA NA 0.677907 0.53291 NA 0.63 NA 2.939393 1366 2 109526969 109526969 G A exonic EDAR NA synonymous SNV EDAR:NM_022336:exon9:c.C750T:p.S250S exonic ENSG00000135960 NA synonymous SNV ENSG00000135960:ENST00000376651:exon8:c.C846T:p.S282S,ENSG00000135960:ENST00000258443:exon9:c.C750T:p.S250S,ENSG00000135960:ENST00000409271:exon9:c.C846T:p.S282S NA NA 2q12.3 NA NA NA NA rs260632 0.93 0.93 0.93 0.921326 0.9085 0.994 0.9294 0.8752 0.9162 0.91 1 0.94 0.87 0.917 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067205 NA NA 0.902209 0.884703 NA 0.949 NA 2.9389576 1366 9 117044538 117044538 G T intronic COL27A1 NA NA NA intronic ENSG00000196739 NA NA NA NA NA 9q32 NA NA NA NA rs2636879 0.33 0.33 0.298 0.300519 0.3708 0.3522 0.3386 0.2474 0.2198 0.36 0.36 0.33 0.24 0.3295 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.072892 NA NA 0.36186 0.256015 ID=COSN168653;OCCURENCE=1(large_intestine) 0.312 NA 2.93784 1366 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 1366 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 1366 15 79750307 79750307 T C exonic KIAA1024 NA synonymous SNV KIAA1024:NM_015206:exon2:c.T1818C:p.I606I exonic ENSG00000169330 NA synonymous SNV ENSG00000169330:ENST00000559272:exon1:c.T1818C:p.I606I,ENSG00000169330:ENST00000305428:exon2:c.T1818C:p.I606I NA NA 15q25.1 NA NA NA NA rs1004724 0.95 0.95 0.953 0.954673 0.9155 0.9792 0.9539 0.9977 0.9121 0.92 0.98 0.94 1 0.9227 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.434013 NA NA 0.891684 0.979053 NA 0.949 NA 2.9367826 1366 19 44968513 44968513 C G intergenic ZNF229,ZNF180 dist=15848;dist=11346 NA NA intergenic ENSG00000167383,ENSG00000176761 dist=15747;dist=3345 NA NA NA NA 19q13.31 NA NA NA NA rs612890 0.39 0.39 0.398 0.345647 0.3966 0.3512 0.2003 0.4584 0.2382 0.4 0.39 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 0.339908 NA NA NA NA NA 0.42 NA 2.9367334 1366 3 46574256 46574256 C T intronic LRRC2 NA NA NA intronic ENSG00000163827 NA NA NA NA NA 3p21.31 NA NA NA NA rs9849400 0.32 0.32 0.317 0.346645 0.3728 0.2758 0.2795 0.3381 0.4519 0.37 0.27 0.26 0.32 0.3542 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521115 NA NA 0.336706 0.301634 NA 0.283 NA 2.936294 1366 14 59946099 59946099 T C intronic L3HYPDH NA NA NA ncRNA_intronic ENSG00000258782 NA NA NA NA NA 14q23.1 NA NA NA NA rs1752436 0.46 0.46 0.481 0.516174 0.4692 0.2054 0.549 0.8177 0.454 0.45 0.19 0.51 0.75 0.4695 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 -0.626698 NA NA 0.458372 0.750567 NA 0.558 NA 2.9362613 1366 3 46574418 46574418 A G intronic LRRC2 NA NA NA intronic ENSG00000163827 NA NA NA NA NA 3p21.31 NA NA NA NA rs1402152 0.32 0.32 0.312 0.348243 0.3728 0.2827 0.281 0.3381 0.4519 0.37 0.28 0.26 0.32 0.354 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.899472 1.899472 NA 0.336977 0.302315 NA 0.275 NA 2.936223 1366 6 10983971 10983971 C G UTR3 ELOVL2 NM_017770:c.*43G>C NA NA UTR3 ENSG00000197977 ENST00000354666:c.*43G>C NA NA NA NA 6p24.2 NA NA NA NA rs4532436 0.62 0.62 0.597 0.633187 0.4384 0.9058 0.6686 0.5378 0.6564 0.44 0.91 0.62 0.58 0.5343 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 3.903768 3.903768 NA 0.424651 0.514753 NA 0.507 NA 2.9359824 1366 17 27421911 27421911 T G intronic MYO18A NA NA NA intronic ENSG00000196535 NA NA NA NA NA 17q11.2 NA NA NA NA rs2019988 0.51 0.51 0.507 0.507388 0.336 0.8571 0.3718 0.5295 0.3896 0.33 0.83 0.38 0.49 0.3938 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 0.298134 NA NA 0.334565 0.488452 NA 0.616 NA 2.935635 1366 12 10775195 10775195 T C intronic STYK1 NA NA NA intronic ENSG00000060140 NA NA NA NA NA 12p13.2 NA NA NA NA rs1078437 0.3 0.3 0.302 0.300919 0.3509 0.1776 0.2478 0.3359 0.3671 0.36 0.17 0.28 0.38 0.33 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.089521 NA NA 0.383488 0.310713 NA 0.297 NA 2.935612 1366 2 98273661 98273661 A G intronic ACTR1B NA NA NA intronic ENSG00000115073 NA NA NA NA NA 2q11.2 NA Name=PU.1 NA NA rs2290124 0.61 0.61 0.603 0.531749 0.7366 0.371 0.536 0.7133 0.2382 0.73 0.37 0.58 0.72 0.6054 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 0.189995 NA NA 0.722558 0.68906 NA 0.717 NA 2.935442 1366 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 1366 3 196547446 196547446 G C intronic PAK2 NA NA NA intronic ENSG00000180370 NA NA NA NA NA 3q29 NA NA NA NA rs2084382 0.38 0.38 0.396 0.437101 0.3618 0.3036 0.3458 0.6112 0.4816 0.34 0.28 0.36 0.59 0.369 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.986349 NA NA 0.333837 0.593736 NA 0.399 NA 2.935363 1366 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 1366 12 27786415 27786415 A G intronic PPFIBP1 NA NA NA intronic ENSG00000110841 NA NA NA NA NA 12p11.23 NA NA NA NA rs7965657 0.26 0.26 0.277 0.254393 0.3668 0.1438 0.2046 0.2277 0.3241 0.4 0.16 0.21 0.21 0.3307 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.947199 NA NA 0.367326 0.233999 NA 0.319 NA 2.935174 1366 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 1367 10 18242304 18242304 T C exonic SLC39A12 NA synonymous SNV SLC39A12:NM_001145195:exon2:c.T99C:p.D33D,SLC39A12:NM_152725:exon2:c.T99C:p.D33D exonic ENSG00000148482 NA synonymous SNV ENSG00000148482:ENST00000377369:exon2:c.T99C:p.D33D,ENSG00000148482:ENST00000377371:exon2:c.T99C:p.D33D,ENSG00000148482:ENST00000377374:exon2:c.T99C:p.D33D NA NA 10p12.33 NA NA NA NA rs691112 0.93 0.93 0.935 0.927915 0.9145 0.9087 0.9035 0.9939 0.8896 0.91 0.92 0.91 0.99 0.906 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 0.523896 NA NA 0.911395 0.975488 NA 0.92 NA 2.9347716 1367 12 56992630 56992630 C G intronic BAZ2A NA NA NA intronic ENSG00000076108 NA NA NA NA NA 12q13.3 NA NA NA NA rs2242497 0.39 0.39 0.433 0.405351 0.3459 0.2312 0.3516 0.7474 0.2219 0.36 0.22 0.31 0.7 0.3605 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 -3.134522 NA NA 0.358888 0.647135 NA 0.478 NA 2.934712 1367 12 21317791 21317791 C T intronic SLCO1B1 NA NA NA intronic ENSG00000134538,ENSG00000257062 NA NA NA NA NA 12p12.1 NA NA NA NA rs4149032 0.49 0.49 0.48 0.535743 0.34 0.5962 0.3919 0.7345 0.5082 0.33 0.58 0.37 0.7 0.3858 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 -0.473624 NA NA 0.339708 0.655568 NA 0.399 NA 2.934492 1367 20 31585415 31585415 T C intronic SUN5 NA NA NA intronic ENSG00000167098 NA NA NA NA NA 20q11.21 NA NA NA NA rs190097 0.43 0.43 0.383 0.45008 0.3241 0.7758 0.4424 0.2753 0.4857 0.32 0.75 0.41 0.25 0.3958 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 -0.704717 NA NA 0.345814 0.277576 NA 0.355 NA 2.934286 1367 19 51363398 51363398 C T UTR3 KLK3 NM_001648:c.*15C>T,NM_001030047:c.*526C>T,NM_001030048:c.*15C>T NA NA UTR3 ENSG00000142515 ENST00000422986:c.*457C>T,ENST00000326003:c.*15C>T,ENST00000595392:c.*302C>T,ENST00000595952:c.*15C>T,ENST00000360617:c.*526C>T,ENST00000598145:c.*15C>T NA NA NA NA 19q13.33 NA Name=ELF1_(SC-631) NA NA rs1058205 0.68 0.68 0.667 0.63099 0.829 0.5585 0.6916 0.5227 0.6053 0.83 0.58 0.71 0.54 0.7518 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 0.212457 NA NA 0.818721 0.60985 NA 0.616 NA 2.9338124 1367 16 85145977 85145977 T C UTR5 FAM92B NM_198491:c.-19A>G NA NA UTR5 ENSG00000153789 ENST00000539556:c.-19A>G NA NA NA NA 16q24.1 NA NA NA NA rs9931038 0.39 0.39 0.374 0.414936 0.4612 0.1161 0.3487 0.6044 0.4663 0.45 0.12 0.39 0.6 0.4423 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.049869 NA NA 0.496163 0.594404 NA 0.391 NA 2.9336704 1367 7 21826199 21826199 G C intronic DNAH11 NA NA NA intronic ENSG00000105877 NA NA NA NA NA 7p15.3 NA NA NA NA rs2072093 0.5 0.5 0.476 0.488219 0.327 0.7411 0.4899 0.4826 0.3998 0.33 0.72 0.47 0.53 0.409 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371703 NA NA 0.330437 0.45485 NA 0.493 NA 2.933563 1367 12 117718686 117718686 G C intronic NOS1 NA NA NA intronic ENSG00000089250 NA NA NA NA NA 12q24.22 NA NA NA NA rs2293051 0.34 0.34 0.296 0.334265 0.3648 0.4018 0.3026 0.267 0.3466 0.35 0.4 0.3 0.27 0.3514 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.076422 NA NA 0.350588 0.26359 NA 0.29 NA 2.933212 1367 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 1367 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 1367 11 63986713 63986713 C A intronic FERMT3 NA NA NA intronic ENSG00000149781 NA NA NA NA NA 11q13.1 NA NA NA NA rs11603538 0.32 0.32 0.301 0.312899 0.3221 0.2629 0.451 0.2988 0.2761 0.33 0.27 0.43 0.28 0.4076 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.951873 NA NA 0.337421 0.304577 NA 0.312 NA 2.932879 1367 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 1367 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 1367 2 215632192 215632192 G A intronic BARD1 NA NA NA intronic ENSG00000138376 NA NA NA NA NA 2q35 NA NA NA NA rs5031011 0.35 0.35 0.33 0.352236 0.3728 0.3433 0.2968 0.3343 0.4039 0.38 0.35 0.34 0.29 0.3614 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117879 NA NA 0.333256 0.33931 NA 0.304 NA 2.932544 1367 11 112065483 112065483 A C intronic BCO2 NA NA NA intronic ENSG00000197580 NA NA NA NA NA 11q23.1 NA NA NA NA rs7123686 0.4 0.4 0.4 0.468251 0.337 0.4683 0.3818 0.4849 0.6421 0.33 0.41 0.36 0.51 0.3904 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.927261 NA NA 0.340121 0.461381 NA 0.435 NA 2.932479 1367 1 153315579 153315579 A G exonic PGLYRP4 NA synonymous SNV PGLYRP4:NM_020393:exon5:c.T459C:p.F153F exonic ENSG00000163218 NA synonymous SNV ENSG00000163218:ENST00000359650:exon5:c.T459C:p.F153F,ENSG00000163218:ENST00000368739:exon5:c.T447C:p.F149F NA NA 1q21.3 NA NA NA NA rs3014863 0.92 0.92 0.932 0.927117 0.9165 0.9058 0.9135 0.9864 0.8896 0.92 0.89 0.9 0.98 0.9059 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 0.482023 NA NA 0.91186 0.975488 NA 0.964 NA 2.9324066 1367 14 35227880 35227880 G T intronic BAZ1A NA NA NA intronic ENSG00000198604 NA NA NA NA NA 14q13.1 NA NA NA NA rs61981201 0.3 0.3 0.313 0.280551 0.3598 0.2569 0.2406 0.2262 0.3252 0.39 0.27 0.28 0.23 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 -1.004716 NA NA 0.373837 0.245801 NA 0.254 NA 2.932163 1367 17 76567883 76567883 G C intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA NA NA rs4969148 0.33 0.33 0.276 0.289736 0.3807 0.3214 0.4798 0.1369 0.2352 0.38 0.34 0.45 0.13 0.3413 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.023481 NA NA 0.346037 0.183241 NA 0.355 NA 2.931963 1367 19 1495634 1495634 G A intronic REEP6 NA NA NA intronic ENSG00000115255 NA NA NA NA NA 19p13.3 NA NA NA NA rs2277748 0.41 0.41 0.396 0.416534 0.3708 0.3938 0.3285 0.5166 0.4141 0.36 0.39 0.34 0.55 0.3617 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.843221 NA 0 0.335776 0.477077 NA 0.464 NA 2.931724 1367 19 10100061 10100061 C A intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs2287804 0.47 0.47 0.468 0.478035 0.333 0.4444 0.3977 0.7746 0.318 0.32 0.44 0.42 0.76 0.3866 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 0.423804 NA NA 0.348721 0.707671 NA 0.457 NA 2.931679 1367 6 51732628 51732628 G A intronic PKHD1 NA NA NA intronic ENSG00000170927 NA NA NA NA NA 6p12.3 NA NA NA NA rs9382044 0.52 0.52 0.503 0.538738 0.3191 0.8383 0.5634 0.4523 0.5552 0.34 0.84 0.49 0.47 0.4345 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 -1.190365 NA NA 0.314767 0.432138 NA 0.42 NA 2.931633 1367 11 112072930 112072930 G A intronic BCO2 NA NA NA intronic ENSG00000197580 NA NA NA NA NA 11q23.1 NA NA NA NA rs4935984 0.4 0.4 0.402 0.46845 0.337 0.4683 0.3818 0.4856 0.6421 0.33 0.41 0.36 0.51 0.3919 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.524417 2.524417 NA 0.339539 0.462971 NA 0.428 NA 2.931561 1367 8 20037017 20037017 T C intronic SLC18A1 NA NA NA intronic ENSG00000036565 NA NA NA NA NA 8p21.3 NA NA NA NA rs2270638 0.25 0.25 0.233 0.222843 0.3738 0.1667 0.2435 0.1006 0.2761 0.37 0.17 0.28 0.13 0.3181 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.044623 NA NA 0.376744 0.160009 NA 0.341 NA 2.931356 1367 19 55831576 55831576 A C intronic TMEM150B NA NA NA intronic ENSG00000180061 NA NA NA NA NA 19q13.42 NA NA NA NA rs897794 0.25 0.25 0.238 0.354233 0.3658 0.1032 0.415 0.4168 0.4734 0.29 0.05 0.36 0.31 0.3714 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.648406 NA NA 0.33184 0.357031 NA NA NA 2.93096 1367 3 40552916 40552916 T C intronic ZNF620 NA NA NA intronic ENSG00000177842 NA NA NA NA NA 3p22.1 NA NA NA NA rs6790578 0.32 0.32 0.279 0.328275 0.3628 0.4167 0.3357 0.1475 0.4407 0.37 0.37 0.38 0.16 0.3577 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824803 NA NA 0.348605 0.193827 NA 0.362 NA 2.930895 1367 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 1367 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 1367 5 3600334 3600334 T C exonic IRX1 NA synonymous SNV IRX1:NM_024337:exon2:c.T1272C:p.N424N exonic ENSG00000170549 NA synonymous SNV ENSG00000170549:ENST00000302006:exon2:c.T1272C:p.N424N NA NA 5p15.33 NA NA NA NA rs844154 0.87 0.87 0.873 0.848642 0.9235 0.7639 0.8948 0.9062 0.7485 0.93 0.76 0.91 0.9 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 -0.796352 NA NA 0.922871 0.909173 NA 0.906 NA 2.9304956 1367 14 56133942 56133942 C T intronic KTN1 NA NA NA intronic ENSG00000126777 NA NA NA NA NA 14q22.3 NA NA NA NA rs7150285 0.35 0.35 0.35 0.355232 0.338 0.3681 0.304 0.348 0.4059 0.34 0.35 0.3 0.39 0.3566 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.075651 3.075651 NA 0.375233 0.357921 ID=COSN164684;OCCURENCE=1(NS) 0.29 NA 2.930167 1367 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 1367 14 89042180 89042180 T G intronic ZC3H14 NA NA NA intronic ENSG00000100722 NA NA NA NA NA 14q31.3 NA NA NA NA rs1469602 0.52 0.52 0.483 0.485823 0.7316 0.4177 0.5187 0.2746 0.5654 0.73 0.4 0.52 0.33 0.6188 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 1.393606 1.393606 NA 0.720349 0.342941 NA 0.58 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118883.2;CLNDSDB=.;CLNDSDBID=. 2.929251 1367 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 1367 11 113085244 113085244 C G intronic NCAM1 NA NA NA intronic ENSG00000149294 NA NA NA NA NA 11q23.2 NA NA NA NA rs686050 0.43 0.43 0.424 0.463059 0.3131 0.4901 0.3703 0.6127 0.453 0.31 0.5 0.34 0.62 0.4159 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.085925 NA NA 0.341965 0.521343 NA 0.5 NA 2.929035 1367 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 1367 5 150483095 150483095 A G intronic ANXA6 NA NA NA intronic ENSG00000197043 NA NA NA NA NA 5q33.1 NA NA NA NA rs4958892 0.44 0.44 0.395 0.442292 0.3419 0.625 0.4841 0.3986 0.3865 0.34 0.6 0.46 0.39 0.3949 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.126362 NA NA 0.33471 0.382011 NA 0.29 NA 2.92849 1367 19 51656454 51656454 A T exonic SIGLEC7 NA synonymous SNV SIGLEC7:NM_016543:exon6:c.A1077T:p.G359G,SIGLEC7:NM_014385:exon7:c.A1356T:p.G452G exonic ENSG00000168995 NA synonymous SNV ENSG00000168995:ENST00000305628:exon6:c.A1077T:p.G359G,ENSG00000168995:ENST00000317643:exon7:c.A1356T:p.G452G NA NA 19q13.41 NA NA NA NA rs273662 0.73 0.73 0.71 0.716054 0.9414 0.5744 0.7493 0.5477 0.8344 0.94 0.55 0.75 0.6 0.8559 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 -0.250597 NA NA 0.94093 0.596913 ID=COSM148693;OCCURENCE=1(stomach) 0.841 NA 2.9284366 1367 14 64676098 64676098 A G intronic SYNE2 NA NA NA UTR5 ENSG00000054654 ENST00000554805:c.-673A>G NA NA NA NA 14q23.2 NA NA NA NA rs1152592 0.57 0.57 0.586 0.593251 0.3966 0.7044 0.428 0.8502 0.4509 0.39 0.66 0.43 0.87 0.4535 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 0.352687 NA NA 0.38814 0.783477 NA 0.507 NA 2.9284267 1367 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 1367 10 82095968 82095968 T G intronic DYDC1 NA NA NA intronic ENSG00000170788 NA NA NA NA NA 10q23.1 Score=838;Name=V$FREAC3_01 NA NA NA rs1340383 0.82 0.82 0.846 0.85004 0.667 0.9772 0.7795 0.9244 0.8569 0.67 0.97 0.74 0.94 0.7541 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 -0.481678 NA NA 0.651501 0.8875 NA 0.783 NA 2.927399 1367 4 56448235 56448235 C T intronic PDCL2 NA NA NA intronic ENSG00000163440 NA NA NA NA NA 4q12 NA NA NA NA rs10866425 0.38 0.38 0.361 0.373203 0.335 0.5714 0.4409 0.1732 0.4305 0.35 0.6 0.41 0.17 0.3948 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.443061 NA NA 0.343621 0.199052 ID=COSN167220;OCCURENCE=1(large_intestine) 0.391 NA 2.926579 1367 9 132623868 132623868 T C exonic USP20 NA synonymous SNV USP20:NM_001008563:exon8:c.T474C:p.A158A,USP20:NM_001110303:exon8:c.T474C:p.A158A,USP20:NM_006676:exon8:c.T474C:p.A158A exonic ENSG00000136878 NA synonymous SNV ENSG00000136878:ENST00000315480:exon8:c.T474C:p.A158A,ENSG00000136878:ENST00000358355:exon8:c.T474C:p.A158A,ENSG00000136878:ENST00000372429:exon8:c.T474C:p.A158A NA NA 9q34.11 NA NA NA NA rs10115249 0.9 0.9 0.877 0.884385 0.9215 0.997 0.9164 0.7337 0.911 0.92 0.99 0.9 0.74 0.9153 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 -0.567146 NA NA 0.90362 0.781561 NA 0.884 NA 2.9262466 1367 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 1367 9 112963504 112963504 A G exonic C9orf152 NA synonymous SNV C9orf152:NM_001012993:exon2:c.T444C:p.D148D exonic ENSG00000188959 NA synonymous SNV ENSG00000188959:ENST00000400613:exon2:c.T444C:p.D148D NA NA 9q31.3 NA NA NA NA rs10120707 0.97 0.97 0.974 0.96905 0.9135 1 0.9337 0.9985 0.9796 0.93 1 0.94 1 0.9307 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.286345 NA NA 0.896512 0.978665 NA 0.971 NA 2.9259546 1367 9 137708934 137708934 T G intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs10858282 0.3 0.3 0.281 0.27516 0.339 0.3333 0.3271 0.1536 0.2771 0.36 0.3 0.33 0.18 0.3418 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.149855 NA NA 0.393488 0.191784 ID=COSM150744;OCCURENCE=1(stomach) 0.333 NA 2.925712 1367 14 104441925 104441925 C T intronic TDRD9 NA NA NA intronic ENSG00000156414 NA NA NA NA NA 14q32.33 NA NA NA NA rs10147923 0.33 0.33 0.327 0.322883 0.3569 0.3343 0.3516 0.2776 0.317 0.37 0.33 0.35 0.27 0.3648 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.861831 NA NA 0.352852 0.302135 NA 0.304 NA 2.925448 1367 11 1009416 1009416 C T intronic AP2A2 NA NA NA intronic ENSG00000183020 NA NA NA NA NA 11p15.5 NA NA NA NA rs7126709 0.34 0.34 0.309 0.313898 0.3787 0.2718 0.5274 0.2504 0.2249 0.37 0.3 0.47 0.25 0.341 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220543 NA NA 0.35506 0.247097 NA 0.268 NA 2.92524 1367 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 1367 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 1368 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 1368 1 2524457 2524457 T C intronic MMEL1 NA NA NA intronic ENSG00000142606 NA NA NA NA NA 1p36.32 NA NA NA NA rs745367 0.48 0.48 0.458 0.539337 0.331 0.5337 0.4885 0.7284 0.5399 0.33 0.48 0.46 0.71 0.4152 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25594 NA NA 0.329073 0.683873 NA 0.493 NA 2.924727 1368 X 135323452 135323452 G A intronic MAP7D3 NA NA NA intronic ENSG00000129680 NA NA NA NA NA Xq26.3 NA NA NA NA rs5975707 0.53 0.53 0.50238 NA NA NA NA NA NA 0.57 0.71 0.51 0.28 0.5378 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.067465 NA NA 0.537502 0.292553 NA 0.435 NA 2.924698 1368 4 39472842 39472842 T A intronic LIAS NA NA NA intronic ENSG00000121897 NA NA NA NA NA 4p14 NA NA NA NA rs2125314 0.33 0.33 0.299 0.336861 0.3489 0.3829 0.4222 0.1044 0.5307 0.37 0.42 0.43 0.1 0.3654 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.752814 2.752814 NA 0.361163 0.157059 NA 0.261 NA 2.924537 1368 13 39452934 39452934 C T intronic FREM2 NA NA NA intronic ENSG00000150893 NA NA NA NA NA 13q13.3 NA NA NA NA rs9532296 0.31 0.31 0.302 0.254193 0.3648 0.4762 0.2824 0.0159 0.2137 0.38 0.47 0.29 0.02 0.3283 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.399777 1.399777 NA 0.382558 0.071266 NA 0.188 NA 2.924342 1368 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 1368 X 155004437 155004437 G T UTR3 SPRY3 NM_005840:c.*37G>T NA NA UTR3 ENSG00000168939 ENST00000302805:c.*37G>T NA NA NA NA Xq28 NA NA NA NA rs306889 0.65 0.65 0.6876 NA NA NA NA NA NA 0.69 0.73 0.74 0.46 0.698 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.397788 NA NA 0.711359 0.486155 NA 0.623 NA 2.9239744 1368 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 1368 15 59970298 59970298 C A intronic BNIP2 NA NA NA intronic ENSG00000140299 NA NA NA NA NA 15q22.2 NA NA NA NA rs2307272 0.39 0.39 0.351 0.364417 0.3539 0.5615 0.3876 0.2224 0.3476 0.36 0.58 0.37 0.23 0.383 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368458 NA NA 0.340093 0.240639 NA 0.37 NA 2.923007 1368 19 55831577 55831577 A C intronic TMEM150B NA NA NA intronic ENSG00000180061 NA NA NA NA NA 19q13.42 NA NA NA NA rs897795 0.24 0.24 0.236 0.354233 0.3658 0.1032 0.415 0.4168 0.4734 0.29 0.05 0.36 0.31 0.3713 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533955 NA NA 0.340034 0.362024 NA NA NA 2.922866 1368 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 1368 17 7214824 7214824 C T intronic EIF5A NA NA NA exonic ENSG00000132507 NA synonymous SNV ENSG00000132507:ENST00000572815:exon4:c.C426T:p.F142F NA NA 17p13.1 NA NA NA NA rs11658072 0.72 0.72 0.702 0.732428 0.6074 0.9464 0.7666 0.5976 0.7986 0.61 0.95 0.72 0.62 0.6773 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 -0.326845 NA NA 0.626279 0.602587 NA 0.652 NA 2.9223543 1368 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 1368 1 166963234 166963234 T C intronic MAEL NA NA NA intronic ENSG00000143194 NA NA NA NA NA 1q24.1 NA NA NA NA rs3736988 0.37 0.37 0.378 0.38119 0.3588 0.247 0.2853 0.6399 0.2607 0.34 0.27 0.29 0.6 0.3667 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.856728 NA NA 0.352852 0.594871 NA 0.522 NA 2.921648 1368 2 160605268 160605268 T C exonic MARCH7 NA synonymous SNV MARCH7:NM_022826:exon5:c.T1467C:p.P489P exonic ENSG00000136536 NA synonymous SNV ENSG00000136536:ENST00000409591:exon4:c.T1353C:p.P451P,ENSG00000136536:ENST00000539065:exon4:c.T1299C:p.P433P,ENSG00000136536:ENST00000259050:exon5:c.T1467C:p.P489P,ENSG00000136536:ENST00000409175:exon7:c.T1467C:p.P489P NA NA 2q24.2 NA NA NA NA rs1365803 0.89 0.89 0.89 0.891573 0.9225 0.7282 0.9308 0.969 0.8957 0.93 0.76 0.94 0.96 0.9124 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 -0.09168 NA NA 0.910349 0.963232 NA 0.877 NA 2.9214176 1368 4 1746229 1746229 G T intronic TACC3 NA NA NA intronic ENSG00000013810 NA NA NA NA NA 4p16.3 NA NA NA NA rs2290011 0.39 0.39 0.393 0.387979 0.3419 0.6954 0.3718 0.1256 0.4847 0.36 0.69 0.36 0.13 0.3881 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 -0.187423 NA NA 0.348721 0.178847 NA 0.312 NA 2.921279 1368 22 50555619 50555619 C T exonic MOV10L1 NA synonymous SNV MOV10L1:NM_001164104:exon9:c.C1293T:p.L431L,MOV10L1:NM_001164105:exon9:c.C1233T:p.L411L,MOV10L1:NM_018995:exon9:c.C1293T:p.L431L exonic ENSG00000073146 NA synonymous SNV ENSG00000073146:ENST00000262794:exon9:c.C1293T:p.L431L,ENSG00000073146:ENST00000395858:exon9:c.C1293T:p.L431L,ENSG00000073146:ENST00000540615:exon9:c.C1233T:p.L411L,ENSG00000073146:ENST00000545383:exon10:c.C1293T:p.L431L NA NA 22q13.33 NA NA NA NA rs138222 0.92 0.92 0.916 0.930511 0.9046 0.9087 0.9395 0.9531 0.9427 0.9 0.91 0.93 0.94 0.9228 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 0.298567 NA NA 0.91814 0.93872 NA 0.935 NA 2.9211266 1368 4 101368661 101368661 A G intronic EMCN NA NA NA intronic ENSG00000164035 NA NA NA NA NA 4q24 NA NA NA NA rs1157180 0.2 0.2 0.181 0.179912 0.3797 0.128 0.1787 0.0212 0.2434 0.39 0.11 0.19 0.02 0.3063 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066647 NA NA 0.393347 0.083106 NA 0.304 NA 2.920653 1368 5 112385005 112385005 A C intronic MCC NA NA NA intronic ENSG00000171444 NA NA NA NA NA 5q22.2 NA NA NA NA rs7726162 0.49 0.49 0.031 0.514976 0.5099 0.5466 0.6081 0.4024 0.5736 0.48 0.57 0.53 0.41 0.5695 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.812959 NA NA NA NA NA NA NA 2.9206 1368 1 2535758 2535758 A G intronic MMEL1 NA NA NA intronic ENSG00000142606 NA NA NA NA NA 1p36.32 NA NA NA NA rs4648652 0.47 0.47 0.45 0.539337 0.332 0.5327 0.4928 0.7315 0.5327 0.33 0.47 0.45 0.71 0.4134 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.308732 NA NA 0.334614 0.678718 NA 0.428 NA 2.919986 1368 17 72367843 72367843 C T intronic GPR142 NA NA NA intronic ENSG00000257008 NA NA NA NA NA 17q25.1 NA NA NA NA rs11652774 0.31 0.31 0.269 0.29972 0.3559 0.3065 0.268 0.1921 0.4029 0.38 0.33 0.28 0.19 0.3635 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.401528 1.401528 NA 0.361744 0.231049 NA 0.312 NA 2.918856 1368 9 115024695 115024695 G A ncRNA_intronic MIR3134 NA NA NA intronic ENSG00000119314 NA NA NA NA NA 9q32 NA NA NA NA rs10981334 0.53 0.53 0.557 0.571286 0.4692 0.3948 0.4524 0.8865 0.5164 0.48 0.35 0.46 0.88 0.4833 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 0.794615 NA NA 0.462093 0.798457 NA 0.688 NA 2.9187403 1368 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 1368 1 232650750 232650750 A G exonic SIPA1L2 NA synonymous SNV SIPA1L2:NM_020808:exon1:c.T336C:p.S112S exonic ENSG00000116991 NA synonymous SNV ENSG00000116991:ENST00000262861:exon1:c.T336C:p.S112S,ENSG00000116991:ENST00000366630:exon2:c.T336C:p.S112S NA NA 1q42.2 NA NA NA NA rs3795366 0.82 0.82 0.821 0.835064 0.9463 0.504 0.8429 0.9917 0.8446 0.95 0.47 0.86 0.98 0.871 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 -1.44486 NA NA 0.931424 0.983366 NA 0.928 NA 2.9179426 1368 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 1368 1 3607520 3607520 G A intronic TP73 NA NA NA intronic ENSG00000078900 NA NA NA NA NA 1p36.32 NA NA NA NA rs3765730 0.26 0.26 0.237 0.236821 0.3797 0.3502 0.2305 0.0219 0.2679 0.38 0.32 0.25 0.02 0.3542 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.167124 NA NA 0.348485 0.071612 NA 0.254 NA 2.917615 1368 11 124766591 124766591 C G intronic ROBO4 NA NA NA intronic ENSG00000154133 NA NA NA NA NA 11q24.2 NA NA Name=18 NA rs4078483 0.65 0.65 0.68 0.636182 0.7187 0.4464 0.5115 0.8646 0.5266 0.7 0.48 0.52 0.85 0.6624 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 1.748933 1.748933 NA 0.701442 0.830227 NA 0.841 NA 2.917458 1368 19 38912597 38912597 G A intronic RASGRP4 NA NA NA intronic ENSG00000171777 NA NA NA NA NA 19q13.2 NA NA NA NA rs4310986 0.4 0.4 0.339 0.440296 0.336 0.4385 0.4323 0.4304 0.5685 0.35 0.45 0.4 0.42 0.415 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.433177 NA NA 0.33194 0.377456 NA 0.232 NA 2.91706 1368 5 112385004 112385004 C G intronic MCC NA NA NA intronic ENSG00000171444 NA NA NA NA NA 5q22.2 NA NA NA NA rs7726296 0.5 0.5 0.029 0.513578 0.508 0.5456 0.6066 0.4009 0.5726 0.48 0.57 0.53 0.41 0.5736 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273246 NA NA 0.001867 0.002505 NA NA NA 2.916533 1368 3 121563271 121563271 C T intronic EAF2 NA NA NA intronic ENSG00000145088 NA NA NA NA NA 3q13.33 NA NA NA NA rs11717089 0.26 0.26 0.297 0.300919 0.3668 0.1766 0.1974 0.4425 0.2434 0.31 0.15 0.18 0.37 0.3339 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.021565 NA NA 0.383783 0.418029 NA 0.377 NA 2.915517 1368 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 1368 11 71185518 71185518 T C exonic NADSYN1 NA synonymous SNV NADSYN1:NM_018161:exon9:c.T744C:p.I248I exonic ENSG00000172890 NA synonymous SNV ENSG00000172890:ENST00000319023:exon9:c.T744C:p.I248I,ENSG00000172890:ENST00000528509:exon9:c.T744C:p.I248I NA NA 11q13.4 NA NA NA NA rs2186778 0.83 0.83 0.83 0.749601 0.9553 0.8284 0.7248 0.6392 0.6237 0.96 0.87 0.75 0.63 0.8511 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 -0.113815 NA NA 0.945156 0.681136 NA 0.768 NA 2.9151106 1369 4 156643183 156643183 C A intronic GUCY1A3 NA NA NA intronic ENSG00000164116 NA NA NA NA NA 4q32.1 NA NA NA NA rs2306554 0.33 0.33 0.304 0.296326 0.3628 0.5268 0.3473 0.0333 0.3098 0.36 0.56 0.31 0.04 0.3579 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.762437 NA NA 0.364419 0.090104 NA 0.297 NA 2.914881 1369 9 95155563 95155563 C A intronic CENPP,OGN NA NA NA intronic ENSG00000106809,ENSG00000188312 NA NA NA NA NA 9q22.31 NA NA NA NA rs2274966 0.38 0.38 0.397 0.402356 0.3549 0.1538 0.2824 0.7761 0.2873 0.33 0.16 0.31 0.74 0.3593 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.111692 NA NA 0.371047 0.693373 NA 0.391 NA 2.914753 1369 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 1369 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 1369 11 6648937 6648937 C T intronic DCHS1 NA NA NA intronic ENSG00000166341 NA NA NA NA NA 11p15.4 NA NA NA NA rs11040937 0.36 0.36 0.353 0.319289 0.3748 0.4246 0.3386 0.2027 0.2975 0.38 0.44 0.34 0.24 0.3721 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.520708 1.520708 NA 0.339158 0.218061 NA 0.449 NA 2.913942 1369 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 1369 12 48547128 48547128 C T intronic ASB8 NA NA NA intronic ENSG00000177981 NA NA NA NA NA 12q13.11 NA NA NA NA rs11168428 0.21 0.21 0.196 0.211262 0.3867 0.0139 0.2089 0.1324 0.3425 0.4 0.01 0.22 0.13 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 -0.880102 NA NA 0.377791 0.145483 NA 0.304 NA 2.912809 1369 19 1496263 1496263 A G intronic REEP6 NA NA NA intronic ENSG00000115255 NA NA NA NA NA 19p13.3 NA NA NA NA rs2244686 0.41 0.41 0.438 0.428514 0.3767 0.3968 0.3357 0.5424 0.4264 0.36 0.39 0.35 0.56 0.3714 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168177 NA NA 0.339423 0.514986 NA 0.478 NA 2.912477 1369 19 58929194 58929194 A G UTR3 ZNF584 NM_173548:c.*43A>G NA NA UTR3 ENSG00000171574 ENST00000306910:c.*43A>G,ENST00000593920:c.*43A>G,ENST00000599238:c.*1040A>G NA NA NA NA 19q13.43 NA NA NA NA rs3764533 0.46 0.46 0.46 0.441094 0.495 0.3254 0.3559 0.5772 0.3814 0.49 0.32 0.4 0.6 0.4483 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.786304 NA NA 0.478711 0.564458 NA 0.536 NA 2.9113224 1369 16 1391221 1391221 G A intronic BAIAP3 NA NA NA intronic ENSG00000007516 NA NA NA NA NA 16p13.3 NA NA NA NA rs34468534 0.46 0.46 0.502 0.456869 0.3429 0.7738 0.2824 0.3941 0.456 0.32 0.82 0.29 0.38 0.394 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 0.962975 NA NA 0.352373 0.393946 NA 0.413 NA 2.910727 1369 9 136648606 136648606 G A intronic VAV2 NA NA NA intronic ENSG00000160293 NA NA NA NA NA 9q34.2 NA Name=CTCF NA NA rs1468128 0.68 0.68 NA 0.690096 0.672 0.9593 0.7133 0.3986 0.8088 0.65 0.96 0.69 0.39 0.7246 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 -0.571031 NA NA 0.692907 0.432819 NA 0.638 NA 2.910493 1369 1 39763242 39763242 G A intronic MACF1 NA NA NA intronic ENSG00000127603 NA NA NA NA NA 1p34.3 NA NA Name=47 NA rs2275187 0.59 0.59 0.553 0.583866 0.7197 0.5982 0.6671 0.27 0.7945 0.74 0.62 0.67 0.26 0.6776 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.097568 NA NA 0.692326 0.352928 NA 0.572 NA 2.910374 1369 6 46826844 46826844 T C exonic GPR116 NA synonymous SNV GPR116:NM_001098518:exon17:c.A2796G:p.T932T,GPR116:NM_015234:exon17:c.A2796G:p.T932T exonic ENSG00000069122 NA synonymous SNV ENSG00000069122:ENST00000545669:exon7:c.A1083G:p.T361T,ENSG00000069122:ENST00000456426:exon15:c.A2370G:p.T790T,ENSG00000069122:ENST00000265417:exon17:c.A2796G:p.T932T,ENSG00000069122:ENST00000283296:exon17:c.A2796G:p.T932T,ENSG00000069122:ENST00000362015:exon17:c.A2796G:p.T932T NA NA 6p12.3 NA NA NA NA rs571247 0.86 0.86 0.846 0.841254 0.9215 0.9921 0.9078 0.5567 0.9407 0.93 0.99 0.9 0.59 0.9031 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 -1.799552 NA NA 0.931744 0.597367 NA 0.746 NA 2.9103226 1369 20 52185814 52185814 C A intronic ZNF217 NA NA NA ncRNA_intronic ENSG00000197670 NA NA NA NA NA 20q13.2 NA NA NA NA rs4602270 0.77 0.77 0.759 0.779153 0.6978 0.8274 0.7392 0.8661 0.7239 0.68 0.82 0.74 0.88 0.7256 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 -0.417486 NA NA NA NA NA 0.732 NA 2.9099333 1369 12 9345273 9345273 A G exonic PZP NA synonymous SNV PZP:NM_002864:exon12:c.T1317C:p.G439G exonic ENSG00000126838 NA synonymous SNV ENSG00000126838:ENST00000381997:exon9:c.T924C:p.G308G,ENSG00000126838:ENST00000261336:exon12:c.T1317C:p.G439G NA NA 12p13.31 NA NA NA NA rs10771407 0.9 0.9 0.877 0.874401 0.9274 0.9762 0.9395 0.6868 0.9223 0.92 0.97 0.94 0.74 0.9103 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 -0.262497 NA NA 0.919186 0.722197 NA 0.855 NA 2.9097806 1369 19 56114237 56114237 G A exonic ZNF524 NA synonymous SNV ZNF524:NM_153219:exon2:c.G759A:p.E253E exonic ENSG00000171443 NA synonymous SNV ENSG00000171443:ENST00000591046:exon1:c.G759A:p.E253E,ENSG00000171443:ENST00000301073:exon2:c.G759A:p.E253E NA NA 19q13.42 NA NA NA NA rs310459 0.85 0.85 0.854 0.838059 0.9304 0.8413 0.8314 0.705 0.9243 0.94 0.85 0.85 0.73 0.8934 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 -0.29819 NA NA 0.933299 0.753769 NA 0.819 NA 2.9095676 1369 8 25296930 25296930 C T intronic KCTD9 NA NA NA intronic ENSG00000104756 NA NA NA NA NA 8p21.2 NA NA NA NA rs2271112 0.4 0.4 0.381 0.416933 0.3598 0.3611 0.3588 0.528 0.4243 0.35 0.37 0.38 0.54 0.3799 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.932921 NA NA 0.351188 0.506128 NA 0.283 NA 2.909112 1369 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 1369 3 108369954 108369954 T C intronic DZIP3 NA NA NA intronic ENSG00000198919 NA NA NA NA NA 3q13.13 NA NA NA NA rs2969900 0.26 0.26 0.249 0.275559 0.3439 0.0159 0.3213 0.3578 0.3292 0.34 0.02 0.32 0.36 0.3828 0.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.781927 1.781927 NA 0.364459 0.310492 NA 0.348 NA 2.908841 1369 12 55248357 55248357 G T UTR5 MUCL1 NM_058173:c.-10G>T NA NA UTR5 ENSG00000172551 ENST00000308796:c.-10G>T NA NA NA NA 12q13.2 NA NA NA NA rs1048371 0.54 0.54 0.487 0.546326 0.4473 0.8393 0.6095 0.2821 0.6585 0.44 0.84 0.57 0.3 0.5206 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 -0.034617 NA NA 0.456628 0.291194 NA 0.413 NA 2.9088054 1369 22 17073066 17073066 A G exonic CCT8L2 NA synonymous SNV CCT8L2:NM_014406:exon1:c.T375C:p.A125A exonic ENSG00000198445 NA synonymous SNV ENSG00000198445:ENST00000359963:exon1:c.T375C:p.A125A NA NA 22q11.1 NA NA NA NA rs5747988 0.85 0.85 0.883 0.869209 0.9324 0.6875 0.8343 0.9478 0.91 0.93 0.68 0.85 0.93 0.8916 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 -0.55697 NA NA 0.933953 0.943032 NA 0.623 NA 2.9087136 1369 6 46826715 46826715 T A exonic GPR116 NA synonymous SNV GPR116:NM_001098518:exon17:c.A2925T:p.V975V,GPR116:NM_015234:exon17:c.A2925T:p.V975V exonic ENSG00000069122 NA synonymous SNV ENSG00000069122:ENST00000545669:exon7:c.A1212T:p.V404V,ENSG00000069122:ENST00000456426:exon15:c.A2499T:p.V833V,ENSG00000069122:ENST00000265417:exon17:c.A2925T:p.V975V,ENSG00000069122:ENST00000283296:exon17:c.A2925T:p.V975V,ENSG00000069122:ENST00000362015:exon17:c.A2925T:p.V975V NA NA 6p12.3 NA NA NA NA rs572248 0.86 0.86 0.832 0.841454 0.9225 0.9921 0.9078 0.5567 0.9407 0.93 0.99 0.9 0.58 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 -1.530333 NA NA 0.932077 0.597367 NA 0.732 NA 2.9086896 1369 6 46826910 46826910 G A exonic GPR116 NA synonymous SNV GPR116:NM_001098518:exon17:c.C2730T:p.A910A,GPR116:NM_015234:exon17:c.C2730T:p.A910A exonic ENSG00000069122 NA synonymous SNV ENSG00000069122:ENST00000545669:exon7:c.C1017T:p.A339A,ENSG00000069122:ENST00000456426:exon15:c.C2304T:p.A768A,ENSG00000069122:ENST00000265417:exon17:c.C2730T:p.A910A,ENSG00000069122:ENST00000283296:exon17:c.C2730T:p.A910A,ENSG00000069122:ENST00000362015:exon17:c.C2730T:p.A910A NA NA 6p12.3 NA NA NA NA rs611779 0.86 0.86 0.849 0.841454 0.9225 0.9921 0.9078 0.5567 0.9407 0.93 0.99 0.9 0.59 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 -0.97349 NA NA 0.932093 0.597367 NA 0.739 NA 2.9086736 1369 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 1369 6 46827126 46827126 C T exonic GPR116 NA synonymous SNV GPR116:NM_001098518:exon17:c.G2514A:p.S838S,GPR116:NM_015234:exon17:c.G2514A:p.S838S exonic ENSG00000069122 NA synonymous SNV ENSG00000069122:ENST00000545669:exon7:c.G801A:p.S267S,ENSG00000069122:ENST00000456426:exon15:c.G2088A:p.S696S,ENSG00000069122:ENST00000265417:exon17:c.G2514A:p.S838S,ENSG00000069122:ENST00000283296:exon17:c.G2514A:p.S838S,ENSG00000069122:ENST00000362015:exon17:c.G2514A:p.S838S NA NA 6p12.3 NA NA NA NA rs610856 0.86 0.86 0.849 0.841454 0.9225 0.9921 0.9078 0.5567 0.9407 0.93 0.99 0.9 0.59 0.9036 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 -1.877674 NA NA 0.931977 0.597367 NA 0.746 NA 2.9085896 1369 5 13845107 13845107 A G intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA NA NA NA rs4429853 0.47 0.47 0.468 0.45647 0.3598 0.622 0.4092 0.5242 0.3272 0.38 0.59 0.37 0.56 0.3838 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144262 NA NA 0.347907 0.499319 NA 0.442 NA 2.908493 1369 18 21912865 21912865 A G intronic OSBPL1A NA NA NA intronic ENSG00000141447 NA NA NA NA NA 18q11.2 NA NA NA NA rs2848605 0.47 0.47 0.49 0.473442 0.3559 0.2887 0.2925 0.916 0.3149 0.37 0.31 0.32 0.91 0.3817 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 -0.097603 NA NA 0.353953 0.820245 NA 0.478 NA 2.908447 1369 9 138586198 138586198 G A exonic SOHLH1 NA synonymous SNV SOHLH1:NM_001012415:exon7:c.C981T:p.P327P exonic ENSG00000165643 NA synonymous SNV ENSG00000165643:ENST00000298466:exon7:c.C981T:p.P327P NA NA 9q34.3 NA NA NA NA rs572335 0.87 0.87 0.852 0.85623 0.9324 0.9712 0.9135 0.6188 0.9397 0.94 0.98 0.91 0.61 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 -0.017377 NA NA 0.91624 0.669391 NA 0.855 NA 2.9084266 1369 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 1369 19 7712425 7712425 G C intronic STXBP2 NA NA NA intronic ENSG00000076944 NA NA NA NA NA 19p13.2 NA NA NA NA rs34976997 0.33 0.33 0.336 0.315695 0.3797 0.2341 0.3646 0.329 0.2812 0.39 0.24 0.33 0.33 0.3582 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.047095 NA NA 0.355226 0.322289 NA 0.435 NA 2.906874 1369 16 84213748 84213748 C T intronic TAF1C NA NA NA intronic ENSG00000103168 NA NA NA NA NA 16q24.1 NA NA NA NA rs2278042 0.31 0.31 0.312 0.278954 0.3459 0.376 0.4179 0.0923 0.2638 0.35 0.41 0.36 0.1 0.4123 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.407487 NA NA 0.335564 0.127115 NA 0.217 NA 2.906236 1369 1 247978996 247978996 A G exonic OR14A16 NA synonymous SNV OR14A16:NM_001001966:exon1:c.T36C:p.L12L exonic ENSG00000196772 NA synonymous SNV ENSG00000196772:ENST00000357627:exon1:c.T36C:p.L12L NA NA 1q44 NA NA NA NA rs10888249 0.87 0.87 0.858 0.846845 0.9175 1 0.9035 0.5424 0.9877 0.92 1 0.91 0.61 0.914 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.048494 NA NA 0.929053 0.611212 NA 0.768 NA 2.9061136 1369 5 176305678 176305678 C T intronic UNC5A NA NA NA intronic ENSG00000113763 NA NA NA NA NA 5q35.2 NA NA NA NA rs478253 0.22 0.22 0.204 0.187899 0.3966 0.1766 0.2205 0.0166 0.1933 0.39 0.16 0.24 0.03 0.3214 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.486657 1.486657 NA 0.375898 0.072795 NA 0.181 NA 2.906102 1369 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 1369 1 20027423 20027423 T G intronic TMCO4 NA NA NA intronic ENSG00000162542 NA NA NA NA NA 1p36.13 NA NA NA NA rs10737480 0.56 0.56 0.578 0.558107 0.332 0.7004 0.4452 0.8215 0.3681 0.34 0.72 0.41 0.83 0.4314 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 0.953261 NA NA 0.331163 0.740808 NA 0.333 NA 2.905437 1369 15 89754954 89754954 G A intronic RLBP1 NA NA NA intronic ENSG00000140522 NA NA NA NA NA 15q26.1 NA NA NA NA rs950541 0.26 0.26 0.263 0.25619 0.3678 0.2034 0.268 0.1369 0.3487 0.38 0.21 0.27 0.15 0.3374 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.127464 NA NA 0.389509 0.180682 NA 0.254 NA 2.905291 1369 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 1370 1 74671519 74671519 A G UTR3 FPGT NM_001199329:c.*461A>G,NM_001199328:c.*3A>G,NM_003838:c.*3A>G NA NA UTR3 ENSG00000254685 ENST00000370898:c.*3A>G,ENST00000370894:c.*461A>G,ENST00000534056:c.*3A>G NA NA NA NA 1p31.1 NA NA NA NA rs571848 0.46 0.46 0.441 0.444489 0.4652 0.7391 0.389 0.1528 0.5532 0.48 0.72 0.41 0.14 0.4853 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.535746 NA NA 0.477921 0.219818 NA 0.341 NA 2.9049124 1370 5 16477751 16477751 C A intronic FAM134B NA NA NA intronic ENSG00000154153 NA NA NA NA NA 5p15.1 NA Name=GATA-1 NA NA rs162850 0.68 0.68 0.719 0.677117 0.7356 0.5526 0.598 0.8185 0.6104 0.73 0.54 0.65 0.79 0.6625 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 -0.425237 NA NA 0.697694 0.805234 NA 0.768 NA 2.904206 1370 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 1370 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 1370 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 1370 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 1370 21 33749533 33749533 A C ncRNA_exonic SNORA80 NA NA NA ncRNA_exonic ENSG00000200792 NA NA NA NA NA 21q22.11 NA Name=CEBPB NA NA rs4816431 0.88 0.88 0.875 0.891573 0.9245 0.7242 0.9467 0.9599 0.8988 0.91 0.71 0.95 0.96 0.9098 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 -0.656352 NA NA 0.929684 0.951484 NA 0.703 NA 2.9026826 1370 13 110851014 110851014 G C intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs496916 0.37 0.37 0.357 0.388578 0.3718 0.497 0.2522 0.3048 0.5041 0.35 0.49 0.3 0.29 0.3649 0.49 NA NA 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 0.360782 0.300726 NA 0.399 NA 2.902518 1370 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 1370 1 175375334 175375334 C T intronic TNR NA NA NA intronic ENSG00000116147 NA NA NA NA NA 1q25.1 NA NA NA NA rs859400 0.43 0.43 0.442 0.41853 0.338 0.5188 0.4524 0.4349 0.3517 0.34 0.53 0.43 0.45 0.3994 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.788017 NA NA 0.360814 0.424648 NA 0.457 NA 2.901786 1370 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 1370 5 96339273 96339273 T G intronic LNPEP NA NA NA intronic ENSG00000113441 NA NA NA NA NA 5q15 NA NA NA NA rs27613 0.58 0.58 0.545 NA NA NA NA NA NA 0.54 0.65 0.63 0.54 0.5726 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.626404 NA NA 0.525698 0.581026 NA 0.696 NA 2.901702 1370 5 178634619 178634619 C T exonic ADAMTS2 NA synonymous SNV ADAMTS2:NM_014244:exon4:c.G786A:p.A262A,ADAMTS2:NM_021599:exon4:c.G786A:p.A262A exonic ENSG00000087116 NA synonymous SNV ENSG00000087116:ENST00000251582:exon4:c.G786A:p.A262A,ENSG00000087116:ENST00000274609:exon4:c.G786A:p.A262A NA NA 5q35.3 NA NA NA NA rs423552 0.93 0.93 0.918 0.924521 0.9095 0.994 0.9424 0.8759 0.9213 0.91 1 0.94 0.89 0.9296 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.896034 NA NA 0.926047 0.894235 NA 0.522 NA 2.9015196 1370 2 27246285 27246285 C T exonic MAPRE3 NA synonymous SNV MAPRE3:NM_012326:exon3:c.C207T:p.H69H exonic ENSG00000084764 NA synonymous SNV ENSG00000084764:ENST00000233121:exon3:c.C207T:p.H69H,ENSG00000084764:ENST00000402218:exon3:c.C207T:p.H69H,ENSG00000084764:ENST00000405074:exon3:c.C207T:p.H69H,ENSG00000084764:ENST00000458529:exon3:c.C207T:p.H69H NA NA 2p23.3 NA NA NA NA rs10865456 0.87 0.87 0.864 0.880192 0.9274 0.8413 0.8545 0.823 0.9673 0.94 0.8 0.89 0.83 0.9101 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 -1.317651 NA NA 0.928023 0.848162 NA 0.848 NA 2.9011436 1370 8 25293858 25293858 C T intronic KCTD9 NA NA NA intronic ENSG00000104756 NA NA NA NA NA 8p21.2 NA NA NA NA rs2012592 0.42 0.42 0.411 0.432308 0.3598 0.3611 0.3617 0.5847 0.4243 0.35 0.37 0.38 0.6 0.3839 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.710771 NA NA 0.356628 0.54857 NA 0.297 NA 2.899672 1370 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 1370 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 1370 11 71185479 71185479 T C exonic NADSYN1 NA synonymous SNV NADSYN1:NM_018161:exon9:c.T705C:p.C235C exonic ENSG00000172890 NA synonymous SNV ENSG00000172890:ENST00000319023:exon9:c.T705C:p.C235C,ENSG00000172890:ENST00000528509:exon9:c.T705C:p.C235C NA NA 11q13.4 NA NA NA NA rs2276354 0.87 0.87 0.894 0.801917 0.9563 0.8274 0.745 0.8253 0.6258 0.96 0.87 0.78 0.8 0.8662 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 1.309219 1.309219 NA 0.945738 0.839545 NA 0.833 NA 2.8984286 1370 17 3101076 3101076 G C exonic OR1A2 NA synonymous SNV OR1A2:NM_012352:exon1:c.G264C:p.G88G exonic ENSG00000172150 NA synonymous SNV ENSG00000172150:ENST00000381951:exon1:c.G264C:p.G88G NA NA 17p13.3 NA NA NA NA rs2241092 0.85 0.85 0.867 0.864217 0.9404 0.8185 0.7277 0.888 0.8978 0.93 0.79 0.78 0.86 0.887 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 -1.911549 NA NA 0.94093 0.87744 NA 0.884 NA 2.8983366 1370 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 1370 11 3109426 3109426 T C UTR3 OSBPL5 NM_145638:c.*9A>G,NM_001144063:c.*9A>G,NM_020896:c.*9A>G NA NA UTR3 ENSG00000021762 ENST00000263650:c.*9A>G,ENST00000478260:c.*9A>G,ENST00000389989:c.*9A>G,ENST00000534454:c.*9A>G,ENST00000525498:c.*9A>G,ENST00000542243:c.*9A>G,ENST00000471998:c.*1448A>G,ENST00000348039:c.*9A>G NA NA NA NA 11p15.4 NA NA Name=9 NA rs10160757 0.84 0.84 0.841 0.863618 0.8032 0.8214 0.8919 0.8964 0.9049 0.82 0.83 0.86 0.88 0.8342 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 0.099629 NA NA 0.799325 0.897593 NA 0.855 NA 2.8966084 1370 17 80394530 80394530 G T intronic HEXDC NA NA NA intronic ENSG00000169660 NA NA NA NA NA 17q25.3 NA NA NA NA rs4789777 0.5 0.5 0.469 0.492812 0.335 0.9018 0.5504 0.3116 0.4376 0.31 0.9 0.52 0.32 0.4586 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 -1.104091 NA NA 0.309977 0.30358 NA 0.377 NA 2.896423 1370 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 1370 1 75072264 75072264 G T intronic C1orf173 NA NA NA ncRNA_intronic ENSG00000234497 NA NA NA NA NA 1p31.1 NA NA NA NA rs41289216 0.33 0.33 0.31 0.316294 0.501 0.1141 0.4524 0.233 0.3507 0.48 0.1 0.47 0.25 0.429 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.026106 NA NA 0.507674 0.287562 NA 0.355 NA 2.8956593 1371 11 5810080 5810080 T C upstream OR52N1 NA NA NA intronic ENSG00000132256 NA NA NA NA NA 11p15.4 NA NA NA NA rs10742788 0.31 0.31 0.302 0.321685 0.332 0.2004 0.2738 0.4576 0.2863 0.33 0.19 0.26 0.44 0.3017 0.44 NA NA 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 0.304992 0.427107 NA 0.333 NA 2.8946413 1371 7 64169019 64169019 G A exonic ZNF107 NA synonymous SNV ZNF107:NM_001013746:exon5:c.G2337A:p.E779E,ZNF107:NM_016220:exon7:c.G2337A:p.E779E exonic ENSG00000196247 NA synonymous SNV ENSG00000196247:ENST00000395391:exon4:c.G2337A:p.E779E,ENSG00000196247:ENST00000344930:exon5:c.G2337A:p.E779E,ENSG00000196247:ENST00000423627:exon5:c.G2337A:p.E779E NA NA 7q11.21 NA NA NA NA rs4717205 0.84 0.84 0.874 0.811502 0.9324 0.8075 0.8818 0.612 0.911 0.93 0.83 0.89 0.66 0.9154 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 -0.622127 NA NA 0.924482 0.815143 NA 0.739 NA 2.8943846 1371 10 53814229 53814229 G T intronic PRKG1 NA NA NA intronic ENSG00000185532 NA NA NA NA NA 10q21.1 NA NA NA NA rs1904010 0.28 0.28 0.262 0.269169 0.3748 0.2579 0.2594 0.1286 0.3691 0.36 0.27 0.31 0.16 0.3483 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.506571 1.506571 NA 0.382558 0.184067 NA 0.232 NA 2.894342 1371 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 1371 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 1371 11 1019375 1019375 C T exonic MUC6 NA synonymous SNV MUC6:NM_005961:exon30:c.G3930A:p.A1310A exonic ENSG00000184956 NA synonymous SNV ENSG00000184956:ENST00000421673:exon30:c.G3930A:p.A1310A NA NA 11p15.5 NA NA NA NA rs9704308 0.91 0.91 0.932 0.923323 0.9274 0.881 0.8876 0.9773 0.9151 0.93 0.85 0.89 0.98 0.9156 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 0.217856 NA NA 0.930094 0.970615 NA 0.942 NA 2.8935726 1371 17 74011452 74011452 G A intronic EVPL NA NA NA intronic ENSG00000167880 NA NA NA NA NA 17q25.1 NA NA NA NA rs2071195 0.4 0.4 0.317 0.38778 0.3429 0.7103 0.3977 0.0802 0.5102 0.38 0.7 0.38 0.08 0.405 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 -0.691897 NA NA 0.358605 0.111212 NA 0.217 NA 2.893495 1371 10 7829759 7829759 C T intronic KIN NA NA NA intronic ENSG00000151657 NA NA NA NA NA 10p14 NA NA NA NA rs17553878 0.26 0.26 0.241 0.208267 0.4066 0.1419 0.2882 0.1536 0.09 0.4 0.15 0.3 0.14 0.3073 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.736666 NA NA 0.392674 0.201089 NA 0.254 NA 2.893426 1371 5 83476194 83476194 G A intronic EDIL3 NA NA NA intronic ENSG00000164176 NA NA NA NA NA 5q14.3 NA NA NA NA rs163715 0.31 0.31 0.291 0.308706 0.3827 0.246 0.389 0.1755 0.4202 0.38 0.29 0.35 0.18 0.3643 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.388133 2.388133 NA 0.36 0.19655 NA 0.355 NA 2.893 1371 5 36301420 36301420 G T intronic RANBP3L NA NA NA intronic ENSG00000164188 NA NA NA NA NA 5p13.2 NA NA Name=5 NA rs884694 0.56 0.56 0.534 0.569888 0.7336 0.4583 0.5879 0.4297 0.6933 0.75 0.4 0.61 0.41 0.6597 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 -1.012667 NA NA 0.713953 0.470495 NA 0.587 NA 2.892747 1371 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 1371 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 1371 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 1371 1 201020105 201020105 A G intronic CACNA1S NA NA NA intronic ENSG00000081248 NA NA NA NA NA 1q32.1 NA Name=EBF NA NA rs6702590 0.84 0.84 0.848 0.880391 0.67 0.9931 0.8213 0.9735 0.8967 0.69 1 0.76 0.96 0.7705 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.74406 NA NA 0.668488 0.923286 NA 0.812 NA 2.891012 1371 7 11075263 11075263 A G intronic PHF14 NA NA NA intronic ENSG00000106443 NA NA NA NA NA 7p21.3 NA NA NA NA rs2353340 0.48 0.48 0.457 0.457668 0.337 0.747 0.5533 0.2935 0.4376 0.35 0.73 0.51 0.36 0.4212 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 -0.315811 NA NA 0.350942 0.295504 NA 0.399 NA 2.890858 1371 19 2936623 2936623 C T exonic ZNF77 NA synonymous SNV ZNF77:NM_021217:exon3:c.G210A:p.E70E exonic ENSG00000175691 NA synonymous SNV ENSG00000175691:ENST00000314531:exon3:c.G210A:p.E70E NA NA 19p13.3 NA NA NA NA rs4807371 0.84 0.84 0.838 0.842851 0.9344 0.5774 0.9222 0.9349 0.8415 0.93 0.59 0.92 0.94 0.8894 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 -0.580551 NA NA 0.952093 0.946664 NA 0.884 NA 2.8907736 1371 9 134346315 134346315 T C exonic PRRC2B NA synonymous SNV PRRC2B:NM_013318:exon13:c.T2052C:p.R684R exonic ENSG00000130723 NA synonymous SNV ENSG00000130723:ENST00000357304:exon13:c.T2052C:p.R684R,ENSG00000130723:ENST00000458550:exon13:c.T2052C:p.R684R,ENSG00000130723:ENST00000405995:exon14:c.T2052C:p.R684R NA NA 9q34.13 NA NA NA NA rs4310250 0.86 0.86 0.854 0.858826 0.9245 0.9196 0.8242 0.6952 0.9744 0.93 0.93 0.86 0.67 0.9087 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 -0.786468 NA NA 0.94302 0.757749 NA 0.797 NA 2.8904466 1371 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 1371 20 42328639 42328639 T C exonic MYBL2 NA synonymous SNV MYBL2:NM_002466:exon7:c.T906C:p.P302P exonic ENSG00000101057 NA synonymous SNV ENSG00000101057:ENST00000396863:exon6:c.T834C:p.P278P,ENSG00000101057:ENST00000217026:exon7:c.T906C:p.P302P NA NA 20q13.12 NA NA NA NA rs285162 0.93 0.93 0.946 0.932109 0.9433 0.8998 0.8602 0.9871 0.9305 0.94 0.9 0.87 0.98 0.9141 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 0.156467 NA NA 0.919302 0.972084 NA 0.957 NA 2.8899646 1371 1 897325 897325 G C exonic KLHL17 NA synonymous SNV KLHL17:NM_198317:exon4:c.G609C:p.A203A exonic ENSG00000187961 NA synonymous SNV ENSG00000187961:ENST00000338591:exon4:c.G609C:p.A203A NA NA 1p36.33 NA NA NA NA rs4970441 0.87 0.87 0.863 0.859225 0.9433 0.9157 0.8847 0.6959 0.9172 0.94 0.92 0.88 0.71 0.9077 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 0.723052 NA NA 0.926163 0.72752 NA 0.812 NA 2.8895036 1371 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 1371 6 33382241 33382241 T C intronic PHF1 NA NA NA intronic ENSG00000112511 NA NA NA NA NA 6p21.32 NA NA NA NA rs442745 0.3 0.3 0.249 0.278155 0.3917 0.3125 0.3674 0.062 0.3548 0.4 0.3 0.4 0.07 0.363 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.46478 NA NA 0.356163 0.111212 NA 0.333 NA 2.889137 1371 19 2934282 2934282 T C exonic ZNF77 NA synonymous SNV ZNF77:NM_021217:exon4:c.A843G:p.S281S exonic ENSG00000175691 NA synonymous SNV ENSG00000175691:ENST00000314531:exon4:c.A843G:p.S281S NA NA 19p13.3 NA NA NA NA rs3746073 0.84 0.84 0.831 0.839657 0.9354 0.5804 0.9193 0.91 0.8569 0.93 0.59 0.92 0.92 0.8904 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 1.736963 1.736963 NA 0.95186 0.930549 NA 0.841 NA 2.8890066 1371 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 1371 7 142423289 142423289 C A intergenic MTRNR2L6,PRSS1 dist=47764;dist=34030 NA NA ncRNA_intronic ENSG00000251060 NA NA NA NA NA 7q34 NA NA NA NA rs17251 0.31 0.31 0.335 0.296326 0.3917 0.119 0.2911 0.4017 0.2423 0.39 0.15 0.31 0.36 0.3383 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.032466 NA NA 0.381114 0.403856 NA 0.355 NA 2.888886 1371 9 138586967 138586967 C A exonic SOHLH1 NA synonymous SNV SOHLH1:NM_001012415:exon6:c.G804T:p.G268G,SOHLH1:NM_001101677:exon6:c.G804T:p.G268G exonic ENSG00000165643 NA synonymous SNV ENSG00000165643:ENST00000298466:exon6:c.G804T:p.G268G,ENSG00000165643:ENST00000425225:exon6:c.G804T:p.G268G NA NA 9q34.3 NA NA NA NA rs3119933 0.87 0.87 0.86 0.879792 0.9334 0.9712 0.9236 0.702 0.9397 0.92 0.96 0.91 0.67 0.923 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 0.008211 NA NA 0.921444 0.767469 NA NA NA 2.8888226 1371 1 230841687 230841687 T C exonic AGT NA synonymous SNV AGT:NM_000029:exon3:c.A1116G:p.L372L exonic ENSG00000135744 NA synonymous SNV ENSG00000135744:ENST00000366667:exon3:c.A1116G:p.L372L NA NA 1q42.2 NA NA NA NA rs7080 0.96 0.96 0.972 0.972644 0.9155 1 0.951 0.9962 0.9867 0.92 1 0.94 0.99 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 -1.240388 NA NA 0.918721 0.984113 NA 0.913 NA 2.8883456 1371 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 1371 17 7011144 7011144 G A intronic ASGR2 NA NA NA intronic ENSG00000161944 NA NA NA NA NA 17p13.1 NA NA NA NA rs62058755 0.29 0.29 0.29 0.294928 0.3559 0.3333 0.2205 0.1747 0.408 0.37 0.31 0.26 0.18 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 1.014612 NA NA 0.399186 0.225148 NA 0.37 NA 2.887314 1371 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 1371 21 26976250 26976250 A G intronic MRPL39 NA NA NA intronic ENSG00000154719 NA NA NA Score=468;Name=lod=106 NA 21q21.3 NA NA NA NA rs7278164 0.48 0.48 0.443 0.451278 0.7396 0.1865 0.5317 0.441 0.3845 0.73 0.15 0.54 0.41 0.6169 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 0.836007 NA NA 0.757791 0.485701 NA 0.558 NA 2.885709 1371 21 37425955 37425955 C T intronic SETD4 NA NA NA intronic ENSG00000185917 NA NA NA NA NA 21q22.12 NA NA Name=3 NA rs762360 0.7 0.7 0.701 0.738618 0.6978 0.5565 0.7925 0.8207 0.819 0.69 0.55 0.81 0.8 0.725 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 -0.190582 NA NA 0.691628 0.793236 NA 0.681 NA 2.885572 1371 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 1371 17 18252010 18252010 T C intronic SHMT1 NA NA NA intronic ENSG00000176974 NA NA NA NA NA 17p11.2 NA NA NA NA rs3866955 0.44 0.44 0.412 0.446486 0.3509 0.4802 0.4135 0.5613 0.3783 0.36 0.48 0.38 0.54 0.3949 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.04079 NA NA 0.368659 0.510274 NA 0.428 NA 2.885541 1372 15 55621889 55621889 T C intronic PIGB NA NA NA intronic ENSG00000069943 NA NA NA NA NA 15q21.3 NA NA NA NA rs28459661 0.57 0.57 0.595 0.608227 0.3579 0.7619 0.4121 0.8933 0.4611 0.34 0.74 0.41 0.87 0.4199 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 0.79358 NA NA 0.337386 0.778936 NA 0.688 NA 2.884814 1372 7 22202196 22202196 T A intronic RAPGEF5 NA NA NA intronic ENSG00000136237 NA NA NA NA NA 7p15.3 NA NA NA NA rs1981600 0.31 0.31 0.28 0.290535 0.3817 0.2996 0.2767 0.1899 0.3333 0.38 0.32 0.3 0.21 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 -0.956256 NA NA 0.372812 0.19783 NA 0.319 NA 2.883488 1372 7 142498687 142498687 T C intergenic PRSS3P2,EPHB6 dist=16288;dist=54105 NA NA upstream ENSG00000211772 NA NA NA NA NA 7q34 NA NA NA NA rs1799887 NA NA 0.59 NA NA NA NA NA NA NA NA NA NA 0.6171 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.989554 NA NA NA NA NA 0.63 NA 2.8829 1372 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 1372 12 5022041 5022041 G A UTR3 KCNA1 NM_000217:c.*9G>A NA NA UTR3 ENSG00000111262 ENST00000382545:c.*9G>A NA NA NA NA 12p13.32 NA NA NA NA rs4766310 0.51 0.51 0.495 0.47524 0.4841 0.6151 0.5043 0.3918 0.4141 0.49 0.6 0.52 0.43 0.4765 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.030763 NA NA 0.49 0.382433 NA 0.536 NA 2.8827334 1372 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 1372 13 26144896 26144896 C T intronic ATP8A2 NA NA NA intronic ENSG00000132932 NA NA NA NA NA 13q12.13 NA NA NA NA rs17729346 0.21 0.21 0.224 0.174321 0.4155 0.003 0.2421 0.0787 0.184 0.41 0.0017 0.28 0.09 0.3114 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.470386 NA NA 0.390739 0.119307 NA 0.159 NA 2.882361 1372 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 1372 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 1372 3 52837855 52837855 T C intronic ITIH3 NA NA NA intronic ENSG00000162267 NA NA NA NA NA 3p21.1 NA NA NA NA rs2710331 0.43 0.43 0.423 0.388778 0.3936 0.3681 0.4784 0.5053 0.184 0.4 0.42 0.48 0.46 0.3716 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.342851 NA NA 0.352788 0.467857 NA 0.29 NA 2.882012 1372 14 32438484 32438484 G A intergenic NUBPL,ARHGAP5-AS1 dist=108055;dist=106141 NA NA intergenic ENSG00000258474,ENSG00000258386 dist=18896;dist=37624 NA NA NA NA 14q12 NA NA Name=17 NA rs1952966 0.53 0.53 0.505 0.495607 0.4702 0.6667 0.4712 0.5106 0.3425 0.47 0.68 0.46 0.49 0.5036 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.736516 NA NA 0.477649 0.517123 NA 0.594 NA 2.8818844 1372 17 16852027 16852027 T G intronic TNFRSF13B NA NA NA intronic ENSG00000240505 NA NA NA NA NA 17p11.2 NA NA NA NA rs2274892 0.42 0.42 0.394 0.40635 0.3479 0.6538 0.4135 0.2769 0.3814 0.35 0.63 0.41 0.28 0.3886 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.450991 NA NA 0.381744 0.305039 NA 0.341 NA 2.881756 1372 15 41104874 41104874 G C intronic ZFYVE19 NA NA NA intronic ENSG00000166140 NA NA NA NA NA 15q15.1 NA NA NA NA rs17657877 0.35 0.35 0.335 0.345647 0.3837 0.247 0.3127 0.3487 0.4274 0.4 0.25 0.3 0.4 0.3763 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.061606 NA NA 0.358337 0.36366 NA 0.348 NA 2.881663 1372 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 1372 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 1372 19 55086775 55086775 C T exonic LILRA2 NA synonymous SNV LILRA2:NM_001130917:exon5:c.C708T:p.P236P,LILRA2:NM_006866:exon5:c.C708T:p.P236P exonic ENSG00000239998 NA synonymous SNV ENSG00000239998:ENST00000391737:exon4:c.C672T:p.P224P,ENSG00000239998:ENST00000251376:exon5:c.C708T:p.P236P,ENSG00000239998:ENST00000391738:exon5:c.C708T:p.P236P,ENSG00000239998:ENST00000251377:exon6:c.C708T:p.P236P,ENSG00000239998:ENST00000439534:exon6:c.C708T:p.P236P NA NA 19q13.42 NA NA NA NA rs1052120 0.92 0.92 0.914 0.915935 0.9453 0.9385 0.866 0.8896 0.9335 0.94 0.93 0.93 0.88 0.9138 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 -0.289365 NA NA 0.926977 0.894008 NA 0.964 NA 2.8805896 1372 5 13829608 13829608 G A intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA NA NA NA rs1348691 0.46 0.46 0.465 0.44349 0.3698 0.626 0.4207 0.4705 0.3108 0.38 0.59 0.39 0.5 0.3856 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017663 NA NA 0.364651 0.455969 NA 0.514 NA 2.879949 1372 14 72201985 72201985 C A intronic SIPA1L1 NA NA NA intronic ENSG00000197555 NA NA NA NA NA 14q24.2 NA NA NA NA rs2097887 0.45 0.45 0.443 0.478634 0.3489 0.5506 0.536 0.4728 0.5051 0.35 0.54 0.49 0.48 0.4256 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.271062 1.271062 NA 0.345581 0.452111 NA 0.326 NA 2.879919 1372 21 47697650 47697650 A G intronic MCM3AP NA NA NA intronic ENSG00000160294 NA NA NA NA NA 21q22.3 NA NA NA NA rs17182664 0.27 0.27 0.248 0.267772 0.4006 0.1558 0.2291 0.1989 0.3671 0.4 0.13 0.28 0.21 0.3349 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.065931 NA NA 0.385233 0.215161 NA 0.304 NA 2.879267 1372 16 72132713 72132713 C T intronic DHX38 NA NA NA intronic ENSG00000140829 NA NA NA NA NA 16q22.2 NA NA NA NA rs2072142 0.43 0.43 0.45 0.478035 0.3549 0.3105 0.3156 0.7867 0.4755 0.34 0.33 0.35 0.75 0.3927 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 2.845184 2.845184 NA 0.373372 0.69313 NA 0.478 NA 2.879028 1372 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 1372 14 54875514 54875514 A G intronic CDKN3 NA NA NA intronic ENSG00000100526 NA NA NA NA NA 14q22.2 Score=914;Name=V$AREB6_01 NA NA NA rs2179896 0.71 0.71 0.701 0.686502 0.7177 0.6607 0.6614 0.7292 0.6411 0.73 0.67 0.68 0.73 0.685 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 -0.806403 NA NA 0.719042 0.712438 ID=COSM147780;OCCURENCE=1(stomach) 0.601 NA 2.878258 1372 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 1372 9 134351065 134351065 G T exonic PRRC2B NA synonymous SNV PRRC2B:NM_013318:exon15:c.G3549T:p.G1183G exonic ENSG00000130723 NA synonymous SNV ENSG00000130723:ENST00000357304:exon15:c.G3549T:p.G1183G NA NA 9q34.13 NA NA NA NA rs7858488 0.87 0.87 0.835 0.873403 0.9304 0.9415 0.8242 0.7269 0.9775 0.93 0.94 0.86 0.7 0.9146 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 -1.566685 NA NA 0.943643 0.752178 NA 0.833 NA 2.8780236 1372 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 1372 10 43622217 43622217 T C UTR3 RET NM_020630:c.*15T>C NA NA UTR3 ENSG00000165731 ENST00000340058:c.*15T>C NA NA Score=432;Name=lod=76 NA 10q11.21 NA NA NA NA rs2075912 0.76 0.76 0.763 0.754992 0.828 0.4762 0.781 0.9425 0.6953 0.82 0.49 0.83 0.93 0.8031 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 0.290771 NA NA 0.825308 0.908038 NA 0.855 NA 2.8769254 1372 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 1372 4 185553098 185553098 T G intronic CASP3 NA NA NA intronic ENSG00000164305 NA NA NA Score=522;Name=lod=177 NA 4q35.1 NA NA NA NA rs2705897 0.6 0.6 0.639 0.592652 0.7336 0.1964 0.4928 0.851 0.5777 0.73 0.23 0.57 0.85 0.6525 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 -1.298963 NA NA 0.737442 0.814117 NA 0.688 NA 2.876458 1372 3 45533224 45533224 G A exonic LARS2 NA synonymous SNV LARS2:NM_015340:exon13:c.G1455A:p.A485A exonic ENSG00000011376 NA synonymous SNV ENSG00000011376:ENST00000414984:exon11:c.G1326A:p.A442A,ENSG00000011376:ENST00000415258:exon12:c.G1455A:p.A485A,ENSG00000011376:ENST00000265537:exon13:c.G1455A:p.A485A NA NA 3p21.31 NA NA NA NA rs2128361 0.82 0.82 0.801 0.782748 0.9423 0.9782 0.9092 0.3396 0.9264 0.94 0.98 0.92 0.39 0.9025 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 -0.857496 NA NA 0.945581 0.439855 NA 0.775 NA 2.8762856 1372 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 1372 22 43575774 43575774 A C intronic TTLL12 NA NA NA intronic ENSG00000100304 NA NA NA NA NA 22q13.2 Score=788;Name=V$PAX2_01 NA NA NA rs138945 0.66 0.66 0.681 0.638578 0.7048 0.37 0.6023 0.9123 0.5031 0.71 0.36 0.68 0.92 0.6699 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 -2.57941 NA NA 0.749186 0.914208 NA 0.768 NA 2.876114 1372 19 48668795 48668795 G A intronic LIG1 NA NA NA intronic ENSG00000105486 NA NA NA NA NA 19q13.33 NA NA NA NA rs3730849 0.36 0.36 0.313 0.317292 0.3996 0.5506 0.3199 0.059 0.3395 0.39 0.57 0.35 0.08 0.3548 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.982648 NA NA 0.370233 0.117567 NA 0.319 NA 2.875367 1372 21 44448775 44448775 G A intronic PKNOX1 NA NA NA intronic ENSG00000160199 NA NA NA NA NA 21q22.3 NA NA NA NA rs234728 0.26 0.26 0.236 0.238618 0.3728 0.0933 0.2363 0.1815 0.3292 0.4 0.1 0.27 0.23 0.3468 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.278819 NA NA 0.405349 0.224467 NA 0.275 NA 2.875051 1373 13 113439586 113439586 G T intronic ATP11A NA NA NA intronic ENSG00000068650 NA NA NA NA NA 13q34 NA NA NA NA rs11616475 0.27 0.27 0.242 0.27516 0.3857 0.2401 0.3487 0.0749 0.4162 0.35 0.24 0.37 0.1 0.3494 0.39 NA NA 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 0.390233 0.131866 ID=COSN164572;OCCURENCE=1(breast) 0.312 NA 2.874667 1373 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 1373 4 4249300 4249300 T C intronic TMEM128 NA NA NA intronic ENSG00000132406 NA NA NA NA NA 4p16.3 NA NA NA NA rs2916468 0.42 0.42 0.392 0.45647 0.3439 0.4206 0.5014 0.5257 0.4836 0.35 0.43 0.47 0.48 0.409 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.129177 NA NA 0.373023 0.491375 NA 0.42 NA 2.874077 1373 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 1373 19 48664798 48664798 G A intronic LIG1 NA NA NA intronic ENSG00000105486 NA NA NA NA NA 19q13.33 NA NA NA NA rs3730862 0.36 0.36 0.331 0.320887 0.4006 0.5565 0.3228 0.059 0.3487 0.39 0.58 0.35 0.08 0.3568 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.474535 NA NA 0.369186 0.11734 NA 0.319 NA 2.873414 1373 4 4249297 4249297 C T intronic TMEM128 NA NA NA intronic ENSG00000132406 NA NA NA NA NA 4p16.3 NA NA NA NA rs2916469 0.42 0.42 0.393 0.45647 0.3439 0.4206 0.5014 0.5257 0.4836 0.35 0.43 0.47 0.48 0.409 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.217891 NA NA 0.373721 0.492283 NA 0.42 NA 2.873379 1373 6 3287118 3287118 T C exonic SLC22A23 NA synonymous SNV SLC22A23:NM_015482:exon7:c.A1521G:p.S507S,SLC22A23:NM_021945:exon8:c.A678G:p.S226S exonic ENSG00000137266 NA synonymous SNV ENSG00000137266:ENST00000380302:exon7:c.A678G:p.S226S,ENSG00000137266:ENST00000406686:exon7:c.A1521G:p.S507S,ENSG00000137266:ENST00000436008:exon7:c.A1521G:p.S507S,ENSG00000137266:ENST00000485307:exon7:c.A1005G:p.S335S,ENSG00000137266:ENST00000467177:exon8:c.A999G:p.S333S,ENSG00000137266:ENST00000490273:exon8:c.A678G:p.S226S NA NA 6p25.2 NA NA NA NA rs6910086 0.87 0.87 0.87 0.860823 0.9533 0.6815 0.8775 0.9781 0.7802 0.95 0.68 0.89 0.96 0.9034 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 1.248533 1.248533 NA 0.936889 0.968438 NA 0.935 NA 2.8730776 1373 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 1373 11 132306153 132306153 T C intronic OPCML NA NA NA intronic ENSG00000183715 NA NA NA NA NA 11q25 NA NA NA NA rs1940024 0.52 0.52 0.523 0.566893 0.3459 0.4216 0.5029 0.9032 0.5348 0.36 0.46 0.47 0.87 0.4291 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 -0.837843 NA NA 0.352106 0.797365 ID=COSN164099;OCCURENCE=1(NS) 0.449 NA 2.872894 1373 1 171311003 171311003 A C UTR3 FMO4 NM_002022:c.*25A>C NA NA UTR3 ENSG00000076258 ENST00000367749:c.*25A>C NA NA NA NA 1q24.3 NA NA NA NA rs1042772 0.51 0.51 0.521 0.575479 0.4771 0.4206 0.4207 0.7685 0.6851 0.47 0.41 0.43 0.76 0.5143 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 -0.625011 NA NA 0.469129 0.698954 NA 0.457 NA 2.8728044 1373 6 33422976 33422976 T G exonic ZBTB9 NA synonymous SNV ZBTB9:NM_152735:exon2:c.T99G:p.S33S exonic ENSG00000213588 NA synonymous SNV ENSG00000213588:ENST00000395064:exon2:c.T99G:p.S33S NA NA 6p21.32 NA NA NA NA rs3119025 0.96 0.96 0.962 0.967652 0.9284 0.994 0.9207 0.9879 0.9867 0.92 1 0.93 0.98 0.942 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414098 NA NA 0.923488 0.977304 NA 0.971 NA 2.8727786 1373 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 1373 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 1373 14 106321590 106321590 C A intergenic ELK2AP,KIAA0125 dist=182446;dist=62248 NA NA exonic ENSG00000211899 NA nonsynonymous SNV ENSG00000211899:ENST00000390559:exon2:c.G644T:p.G215V NA NA 14q32.33 NA Name=Pol2-4H8,Pol2 NA NA rs12365 0.93 0.93 0.931 0.914936 0.993 0.999 0.9712 0.7012 0.9969 0.99 1 0.96 0.74 0.9744 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.512117 1.512117 0.26 0.994513 0.734539 NA 0.725 NA 2.8714204 1373 7 51093013 51093013 A T exonic COBL NA synonymous SNV COBL:NM_015198:exon12:c.T3561A:p.A1187A exonic ENSG00000106078 NA synonymous SNV ENSG00000106078:ENST00000431948:exon11:c.T3216A:p.A1072A,ENSG00000106078:ENST00000265136:exon12:c.T3561A:p.A1187A,ENSG00000106078:ENST00000395542:exon14:c.T3807A:p.A1269A NA NA 7p12.1 NA NA NA NA rs2240087 0.88 0.88 0.874 0.888379 0.9443 0.7242 0.8876 0.9569 0.908 0.94 0.7 0.9 0.97 0.9145 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 0.375032 NA NA 0.936628 0.956403 ID=COSM453215;OCCURENCE=1(breast) 0.92 NA 2.8712386 1373 19 48660445 48660445 T C intronic LIG1 NA NA NA intronic ENSG00000105486 NA NA NA NA NA 19q13.33 NA NA NA NA rs274862 0.37 0.37 0.312 0.323083 0.3996 0.5635 0.3213 0.0658 0.3456 0.39 0.59 0.35 0.1 0.358 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.13618 NA NA 0.371279 0.120291 NA 0.312 NA 2.871121 1373 18 47488625 47488625 A G intronic MYO5B NA NA NA intronic ENSG00000167306 NA NA NA NA NA 18q21.1 NA NA NA NA rs17715416 0.29 0.29 0.296 0.322284 0.3668 0.2748 0.389 0.1399 0.5245 0.37 0.26 0.36 0.15 0.3825 0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.088952 NA NA 0.37967 0.196158 ID=COSN165659;OCCURENCE=1(breast) 0.362 NA 2.87103 1373 4 42402992 42402992 A G intronic SHISA3 NA NA NA intronic ENSG00000178343 NA NA NA NA NA 4p13 NA NA NA NA rs66671329 0.35 0.35 0.342 0.326677 0.3887 0.5982 0.2392 0.0643 0.3998 0.38 0.63 0.26 0.06 0.3601 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.256343 NA NA 0.380349 0.126645 NA 0.319 NA 2.870851 1373 4 54327584 54327584 A G intronic LNX1 NA NA NA intronic ENSG00000072201,ENSG00000145216 NA NA NA NA NA 4q12 NA NA Name=42 NA rs3765158 0.67 0.67 0.673 0.683706 0.7087 0.6458 0.6902 0.6619 0.7219 0.72 0.61 0.64 0.68 0.7009 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.730072 NA NA 0.719819 0.668634 NA 0.703 NA 2.870581 1373 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 1373 11 89916080 89916080 G C intronic NAALAD2 NA NA NA intronic ENSG00000077616 NA NA NA NA NA 11q14.3 NA NA NA NA rs9804632 0.45 0.45 0.439 0.465455 0.3648 0.4137 0.5187 0.5189 0.5123 0.36 0.4 0.51 0.58 0.4134 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388342 NA NA 0.351675 0.477056 ID=COSM147304;OCCURENCE=1(stomach) 0.413 NA 2.870125 1373 1 17601083 17601083 C T intronic PADI3 NA NA NA intronic ENSG00000142619 NA NA NA NA NA 1p36.13 NA NA NA NA rs2293917 0.38 0.38 0.389 0.369409 0.3877 0.254 0.3386 0.5817 0.2045 0.38 0.23 0.35 0.58 0.3647 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.621169 1.621169 NA 0.377674 0.533137 NA 0.391 NA 2.869926 1373 17 16335191 16335191 C A intronic TRPV2 NA NA NA intronic ENSG00000187688 NA NA NA NA NA 17p11.2 NA NA NA NA rs34786363 0.33 0.33 0.296 0.285543 0.3877 0.2222 0.3444 0.2769 0.2157 0.38 0.25 0.39 0.3 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 -0.252103 NA NA 0.398256 0.300726 NA 0.304 NA 2.869544 1373 20 1291076 1291076 G C ncRNA_exonic FKBP1A-SDCBP2 NA NA NA UTR3 ENSG00000125775 ENST00000360779:c.*9C>G,ENST00000339987:c.*9C>G,ENST00000381812:c.*9C>G,ENST00000381808:c.*9C>G NA NA NA NA 20p13 NA NA NA NA rs1048628 0.63 0.63 0.598 0.631789 0.5487 0.9187 0.6023 0.4213 0.727 0.56 0.91 0.59 0.43 0.582 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 0.27073 NA NA 0.499767 0.431911 NA 0.587 NA 2.869533 1373 6 33138955 33138955 G A intronic COL11A2 NA NA NA intronic ENSG00000204248 NA NA NA NA NA 6p21.32 NA NA NA NA rs2855437 0.79 0.79 0.789 0.805312 0.6889 0.8849 0.7478 0.8222 0.8609 0.69 0.9 0.74 0.83 0.7563 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 -0.379062 NA NA 0.685857 0.792329 NA 0.746 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039836.1;CLNDSDB=.;CLNDSDBID=. 2.868943 1373 4 100266330 100266330 A G intronic ADH1C NA NA NA intronic ENSG00000248144 NA NA NA NA NA 4q23 NA NA NA NA rs1693426 0.24 0.24 0.214 0.214457 0.4046 0.0764 0.2709 0.0998 0.2761 0.42 0.07 0.31 0.12 0.3411 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.181085 NA NA 0.385581 0.148661 NA 0.232 NA 2.868719 1373 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 1373 15 89806710 89806710 C T intronic FANCI NA NA NA intronic ENSG00000140525 NA NA NA NA NA 15q26.1 NA NA NA NA rs1981623 0.36 0.36 0.337 0.338858 0.3837 0.3095 0.3919 0.3056 0.3303 0.4 0.31 0.39 0.33 0.382 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.533735 2.533735 NA 0.366132 0.312727 NA 0.37 NA 2.868168 1373 17 5424376 5424376 G A intronic NLRP1 NA NA NA intronic ENSG00000091592 NA NA NA NA NA 17p13.2 NA NA NA NA rs12944976 0.23 0.23 0.211 0.202875 0.3787 0.0238 0.3588 0.1407 0.18 0.37 0.03 0.34 0.16 0.353 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.674874 NA NA 0.400465 0.182932 NA 0.21 NA 2.867835 1373 2 166771663 166771663 C T intronic TTC21B NA NA NA intronic ENSG00000123607 NA NA NA NA NA 2q24.3 NA NA NA NA rs7590559 0.37 0.37 0.343 0.365415 0.3708 0.2619 0.379 0.4599 0.3292 0.38 0.28 0.42 0.42 0.3681 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.22456 NA NA 0.393406 0.428082 NA 0.254 NA 2.867694 1373 2 71627539 71627539 C T intronic ZNF638 NA NA NA intronic ENSG00000075292 NA NA NA NA NA 2p13.2 NA NA NA NA rs3771371 0.38 0.38 0.332 0.373203 0.5527 0.2917 0.6081 0.0348 0.5634 0.54 0.34 0.57 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 0.574793 NA NA 0.57971 0.125723 NA 0.362 NA 2.86759 1373 1 155028522 155028522 G A ncRNA_intronic LOC100505666 NA NA NA intronic ENSG00000143537 NA NA NA NA NA 1q22 NA NA NA NA rs11264302 0.35 0.35 0.372 0.331669 0.5179 0.0069 0.3156 0.4788 0.2873 0.51 0.01 0.32 0.51 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 0.119606 NA NA 0.524767 0.500681 NA 0.457 NA 2.8675663 1373 19 36517655 36517655 C T intronic CLIP3 NA NA NA ncRNA_intronic ENSG00000267698 NA NA NA NA NA 19q13.12 NA NA NA NA rs10418015 0.5 0.5 0.52 0.488818 0.501 0.4355 0.3501 0.6657 0.3906 0.5 0.42 0.41 0.65 0.4939 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.901099 NA NA 0.470918 0.621364 NA 0.449 NA 2.8675153 1373 17 4575283 4575283 A G exonic PELP1 NA synonymous SNV PELP1:NM_014389:exon16:c.T3003C:p.P1001P exonic ENSG00000141456 NA synonymous SNV ENSG00000141456:ENST00000301396:exon16:c.T3435C:p.P1145P,ENSG00000141456:ENST00000572293:exon16:c.T3153C:p.P1051P,ENSG00000141456:ENST00000574876:exon16:c.T3003C:p.P1001P,ENSG00000141456:ENST00000269230:exon20:c.T2733C:p.P911P NA NA 17p13.2 NA NA NA NA rs3862485 0.86 0.86 0.856 0.842252 0.9374 1 0.902 0.5522 0.9315 0.94 1 0.91 0.55 0.9229 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.671316 NA NA 0.938873 0.615079 NA 0.877 NA 2.8674936 1373 3 33216357 33216357 G A intronic SUSD5 NA NA NA intronic ENSG00000173705 NA NA NA NA NA 3p22.3 NA NA NA NA rs57072412 0.25 0.25 0.277 0.246605 0.3986 0.0933 0.2478 0.1846 0.3313 0.38 0.09 0.29 0.22 0.3333 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.275442 1.275442 NA 0.400669 0.189487 NA 0.261 NA 2.867431 1373 12 20766559 20766559 C T exonic PDE3A NA synonymous SNV PDE3A:NM_001244683:exon2:c.C228T:p.V76V,PDE3A:NM_000921:exon3:c.C1194T:p.V398V exonic ENSG00000172572 NA synonymous SNV ENSG00000172572:ENST00000359062:exon3:c.C1194T:p.V398V NA NA 12p12.2 NA NA NA NA rs10743380 0.93 0.93 0.927 0.910543 0.9364 1 0.9424 0.7882 0.9346 0.94 1 0.93 0.82 0.9298 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040751 NA NA 0.933721 0.805719 NA 0.92 NA 2.8667456 1373 1 49056695 49056695 T C intronic AGBL4 NA NA NA intronic ENSG00000186094 NA NA NA NA NA 1p33 NA NA NA NA rs7543402 0.29 0.29 0.244 0.341653 0.3489 0.0506 0.3141 0.4349 0.5276 0.35 0.04 0.36 0.45 0.4057 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181828 NA NA 0.378747 0.397059 NA 0.37 NA 2.866653 1373 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 1373 18 77458037 77458037 T C intronic CTDP1 NA NA NA intronic ENSG00000060069 NA NA NA NA NA 18q23 NA NA NA NA rs2242174 0.31 0.31 0.251 0.296925 0.3827 0.3998 0.3919 0.0325 0.3926 0.37 0.39 0.4 0.05 0.3653 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.43169 NA NA 0.385438 0.092374 NA 0.304 NA 2.866562 1373 16 19236181 19236181 C T intronic SYT17 NA NA NA intronic ENSG00000103528 NA NA NA NA NA 16p12.3 NA NA NA NA rs2072076 0.41 0.41 0.45 0.435703 0.3688 0.1438 0.2882 0.8033 0.4131 0.35 0.17 0.34 0.81 0.3802 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 0.437023 NA NA 0.384535 0.739645 NA 0.464 NA 2.866465 1373 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 1373 19 18248146 18248146 T C exonic MAST3 NA synonymous SNV MAST3:NM_015016:exon18:c.T1983C:p.A661A exonic ENSG00000099308 NA synonymous SNV ENSG00000099308:ENST00000262811:exon18:c.T1983C:p.A661A NA NA 19p13.11 NA NA NA NA rs541225 0.95 0.95 0.938 0.939497 0.9264 0.9613 0.9524 0.9349 0.9274 0.93 0.97 0.94 0.94 0.9387 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 1.078673 NA NA 0.935511 0.939333 NA 0.957 NA 2.8660556 1373 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 1373 17 7530147 7530147 G C intronic SAT2 NA NA NA intronic ENSG00000129214,ENSG00000141504 NA NA NA NA NA 17p13.1 NA NA NA NA rs858521 0.28 0.28 0.251 0.283746 0.3887 0.3145 0.2752 0.056 0.4581 0.4 0.28 0.34 0.05 0.3581 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.81883 NA NA 0.387791 0.103722 NA 0.348 NA 2.865409 1373 8 130788548 130788548 C T intronic GSDMC NA NA NA intronic ENSG00000147697 NA NA NA NA NA 8q24.21 NA NA NA NA rs4733741 0.6 0.6 0.646 0.634185 0.3588 0.7004 0.5159 0.9123 0.5573 0.37 0.7 0.51 0.91 0.4446 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 -0.661928 NA NA 0.331395 0.818656 ID=COSN168427;OCCURENCE=1(large_intestine) 0.601 NA 2.865205 1374 8 6390027 6390027 A G intronic ANGPT2,MCPH1 NA NA NA intronic ENSG00000091879,ENSG00000147316 NA NA NA NA NA 8p23.1 NA NA NA NA rs2515481 0.33 0.33 0.311 0.323882 0.3678 0.1438 0.3948 0.4251 0.2771 0.37 0.16 0.38 0.44 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 -0.121097 NA NA 0.401163 0.394235 NA 0.435 NA 2.864937 1374 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 1374 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 1374 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 1374 20 62196884 62196884 A G exonic HELZ2 NA synonymous SNV HELZ2:NM_033405:exon3:c.T1584C:p.T528T,HELZ2:NM_001037335:exon9:c.T3291C:p.T1097T exonic ENSG00000130589 NA synonymous SNV ENSG00000130589:ENST00000427522:exon3:c.T1584C:p.T528T,ENSG00000130589:ENST00000467148:exon8:c.T3291C:p.T1097T NA NA 20q13.33 NA NA NA NA rs310633 0.96 0.96 0.957 0.974441 0.9235 0.999 0.9481 0.997 0.9898 0.91 1 0.94 0.99 0.9481 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.663112 NA NA 0.931051 0.98606 NA 0.623 NA 2.8640156 1374 2 215634055 215634055 C T intronic BARD1 NA NA NA intronic ENSG00000138376 NA NA NA NA NA 2q35 NA NA NA NA rs6704780 0.36 0.36 0.345 0.365216 0.3976 0.3433 0.3069 0.3608 0.4018 0.4 0.35 0.35 0.32 0.3818 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18202 NA NA 0.356977 0.364503 NA 0.326 NA 2.863623 1374 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 1374 5 180338300 180338300 G A intronic BTNL8 NA NA NA intronic ENSG00000113303 NA NA NA NA NA 5q35.3 NA NA NA NA rs2276994 0.45 0.45 0.465 0.432708 0.3748 0.3472 0.4236 0.6702 0.2658 0.39 0.36 0.4 0.68 0.3847 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.8615 NA NA 0.377213 0.638738 NA 0.399 NA 2.863287 1374 10 56077209 56077209 G A intronic PCDH15 NA NA NA intronic ENSG00000150275 NA NA NA NA NA 10q21.1 NA NA NA NA rs10740579 0.6 0.6 0.605 0.603834 0.7455 0.2252 0.6585 0.7655 0.591 0.76 0.22 0.66 0.76 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 0.588373 NA NA 0.731395 0.757376 NA 0.63 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039770.1;CLNDSDB=.;CLNDSDBID=. 2.862705 1374 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 1374 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 1374 X 70282696 70282696 A G intronic SNX12 NA NA NA intronic ENSG00000147164 NA NA NA NA NA Xq13.1 NA NA NA NA rs34211894 0.61 0.61 0.60175 NA NA NA NA NA NA 0.58 0.38 0.69 0.85 0.5836 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 0.314622 NA NA 0.5544 0.829205 NA 0.435 NA 2.862 1374 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 1374 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 1374 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 1374 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 1374 22 44285667 44285667 G A intronic PNPLA5 NA NA NA intronic ENSG00000100341 NA NA NA NA NA 22q13.31 NA NA NA NA rs713864 0.35 0.35 0.329 0.354433 0.3777 0.4514 0.3228 0.202 0.4591 0.37 0.42 0.38 0.2 0.3857 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.166544 NA NA 0.375814 0.246255 NA 0.428 NA 2.860786 1374 17 72248363 72248363 C T intronic TTYH2 NA NA NA intronic ENSG00000141540 NA NA NA NA NA 17q25.1 NA NA NA NA rs4789639 0.34 0.34 0.343 0.359824 0.3628 0.1101 0.2983 0.5598 0.3875 0.38 0.12 0.29 0.58 0.3731 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.071873 2.071873 NA 0.403605 0.53813 ID=COSM148335;OCCURENCE=1(stomach) 0.42 NA 2.860495 1374 6 35803283 35803283 C T intronic SRPK1 NA NA NA intronic ENSG00000096063 NA NA NA NA NA 6p21.31 NA NA NA NA rs2859420 0.41 0.41 0.414 0.447484 0.3797 0.2252 0.3804 0.6815 0.4775 0.37 0.22 0.42 0.68 0.4067 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.307326 NA NA 0.353526 0.610259 NA 0.413 NA 2.860074 1374 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 1374 1 212955454 212955454 G A intronic NSL1 NA NA NA intronic ENSG00000117697 NA NA NA NA NA 1q32.3 NA NA NA NA rs11120026 0.29 0.29 0.274 0.27476 0.3966 0.372 0.1916 0.0825 0.3681 0.39 0.37 0.23 0.08 0.3549 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733809 NA NA 0.389001 0.128425 NA 0.21 NA 2.859499 1374 11 133712348 133712348 G A intronic SPATA19 NA NA NA intronic ENSG00000166118 NA NA NA NA NA 11q25 NA NA NA NA rs2257010 0.36 0.36 0.343 0.329073 0.3926 0.6022 0.3156 0.0666 0.3466 0.39 0.58 0.33 0.08 0.3743 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.98308 NA NA 0.373982 0.127215 NA 0.297 NA 2.859118 1374 17 26856261 26856261 A G intronic FOXN1 NA NA NA intronic ENSG00000109101,ENSG00000258472 NA NA NA NA NA 17q11.2 NA NA NA NA rs548973 0.45 0.45 0.441 0.430711 0.4036 0.3204 0.4914 0.6036 0.2955 0.39 0.37 0.48 0.6 0.386 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.157127 NA NA 0.351628 0.555379 NA 0.413 NA 2.858772 1374 11 26734209 26734209 C T exonic SLC5A12 NA synonymous SNV SLC5A12:NM_178498:exon2:c.G384A:p.T128T exonic ENSG00000148942 NA synonymous SNV ENSG00000148942:ENST00000280467:exon2:c.G384A:p.T128T,ENSG00000148942:ENST00000396005:exon2:c.G384A:p.T128T NA NA 11p14.2 NA NA NA NA rs10742156 0.81 0.81 0.779 0.770367 0.9592 0.8631 0.8963 0.3956 0.8978 0.96 0.88 0.9 0.44 0.8921 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 1.033749 NA NA 0.956734 0.48434 NA 0.783 NA 2.8586326 1374 9 140330976 140330976 T C exonic ENTPD8 NA synonymous SNV ENTPD8:NM_001033113:exon6:c.A783G:p.V261V,ENTPD8:NM_198585:exon6:c.A783G:p.V261V exonic ENSG00000188833 NA synonymous SNV ENSG00000188833:ENST00000472938:exon5:c.A783G:p.V261V,ENSG00000188833:ENST00000344119:exon6:c.A783G:p.V261V,ENSG00000188833:ENST00000371506:exon6:c.A783G:p.V261V NA NA 9q34.3 NA NA NA NA rs13297080 0.94 0.94 0.936 0.943291 0.9344 0.9891 0.9553 0.9047 0.9489 0.93 0.99 0.96 0.9 0.9407 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 0.523585 NA NA 0.933062 0.898085 NA 0.855 NA 2.8585046 1374 20 13260252 13260252 C T intronic ISM1 NA NA NA intronic ENSG00000089123,ENSG00000101230 NA NA NA NA NA 20p12.1 NA NA NA NA rs911642 0.47 0.47 0.471 0.448682 0.3738 0.3948 0.4683 0.7027 0.2239 0.38 0.43 0.43 0.71 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 1.596974 1.596974 NA 0.36295 0.622217 NA 0.457 NA 2.85805 1374 11 5758118 5758118 A C exonic OR56B1 NA synonymous SNV OR56B1:NM_001005180:exon1:c.A372C:p.L124L exonic ENSG00000181023 NA synonymous SNV ENSG00000181023:ENST00000317121:exon1:c.A372C:p.L124L NA NA 11p15.4 NA NA NA NA rs7396766 0.86 0.86 0.862 0.851837 0.9433 0.8909 0.7839 0.7481 0.9059 0.95 0.88 0.81 0.71 0.9105 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 0.514621 NA NA 0.955318 0.76488 NA 0.862 NA 2.8575486 1374 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 1374 7 34192762 34192762 G C exonic BMPER NA synonymous SNV BMPER:NM_133468:exon16:c.G1935C:p.T645T exonic ENSG00000164619 NA synonymous SNV ENSG00000164619:ENST00000426693:exon15:c.G1935C:p.T645T,ENSG00000164619:ENST00000297161:exon16:c.G1935C:p.T645T NA NA 7p14.3 NA NA NA NA rs6968741 0.92 0.92 0.905 0.910144 0.9364 0.998 0.928 0.7844 0.9499 0.94 1 0.94 0.79 0.9353 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.58167 NA NA 0.937674 0.835452 NA 0.899 NA 2.8572926 1374 19 36228954 36228954 G T intronic MLL4 NA NA NA ncRNA_intronic ENSG00000105663 NA NA NA NA NA 19q13.12 NA NA NA NA rs2242522 0.43 0.43 0.391 0.377995 0.507 0.497 0.572 0.152 0.2904 0.5 0.48 0.54 0.18 0.4597 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.248612 NA NA 0.50942 0.194833 NA 0.188 NA 2.8572133 1374 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 1374 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 1374 6 36978834 36978834 A G intronic FGD2 NA NA NA intronic ENSG00000146192 NA NA NA NA NA 6p21.2 NA NA NA NA rs1753288 0.45 0.45 0.394 0.421925 0.3738 0.5476 0.464 0.4032 0.3374 0.37 0.56 0.43 0.45 0.3953 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410093 NA NA 0.37407 0.411711 NA 0.435 NA 2.85683 1374 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 1374 2 241827696 241827696 A G intronic C2orf54 NA NA NA intronic ENSG00000172478 NA NA NA NA NA 2q37.3 NA Name=ERalpha_a NA NA rs4675869 0.74 0.74 0.738 0.718251 0.7217 0.752 0.5994 0.8911 0.5307 0.73 0.7 0.59 0.91 0.6871 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 -0.225437 NA NA 0.734639 0.887674 NA 0.37 NA 2.856561 1374 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 1374 3 27424718 27424718 A G exonic SLC4A7 NA synonymous SNV SLC4A7:NM_001258379:exon23:c.T3132C:p.D1044D,SLC4A7:NM_001258380:exon23:c.T3117C:p.D1039D,SLC4A7:NM_003615:exon24:c.T3489C:p.D1163D exonic ENSG00000033867 NA synonymous SNV ENSG00000033867:ENST00000419036:exon16:c.T2142C:p.D714D,ENSG00000033867:ENST00000388777:exon23:c.T2139C:p.D713D,ENSG00000033867:ENST00000428386:exon23:c.T3117C:p.D1039D,ENSG00000033867:ENST00000435667:exon23:c.T3144C:p.D1048D,ENSG00000033867:ENST00000437179:exon23:c.T3132C:p.D1044D,ENSG00000033867:ENST00000455077:exon23:c.T3132C:p.D1044D,ENSG00000033867:ENST00000295736:exon24:c.T3489C:p.D1163D,ENSG00000033867:ENST00000440156:exon24:c.T3477C:p.D1159D,ENSG00000033867:ENST00000445684:exon24:c.T3477C:p.D1159D,ENSG00000033867:ENST00000446700:exon24:c.T3465C:p.D1155D,ENSG00000033867:ENST00000454389:exon24:c.T3516C:p.D1172D NA NA 3p24.1 NA NA NA NA rs1472256 0.93 0.93 0.932 0.927716 0.9344 1 0.9395 0.8585 0.9315 0.94 1 0.93 0.85 0.937 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.125393 NA NA 0.939186 0.873128 NA 0.935 NA 2.8560806 1374 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 1374 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 1374 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 1374 19 2933480 2933480 C T UTR3 ZNF77 NM_021217:c.*7G>A NA NA UTR3 ENSG00000175691 ENST00000314531:c.*7G>A NA NA NA NA 19p13.3 NA Name=GTF2F1_(RAP-74),SETDB1,KAP1,ZNF274 NA NA rs3786948 0.69 0.69 0.67 0.667732 0.8429 0.5784 0.8213 0.4357 0.7843 0.84 0.59 0.8 0.48 0.7784 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 -0.200557 NA NA 0.856512 0.521562 NA 0.725 NA 2.8555214 1374 3 10401856 10401856 G T intronic ATP2B2 NA NA NA intronic ENSG00000157087 NA NA NA NA NA 3p25.3 NA NA NA NA rs2278554 0.4 0.4 0.323 0.402756 0.3777 0.5159 0.5461 0.1573 0.5419 0.36 0.58 0.52 0.16 0.4149 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876793 NA NA 0.351926 0.152597 NA 0.391 NA 2.855474 1374 2 55844445 55844445 T C UTR5 SMEK2 NM_020463:c.-24A>G,NM_001122964:c.-24A>G NA NA UTR5 ENSG00000138041 ENST00000272313:c.-24A>G,ENST00000407823:c.-24A>G,ENST00000345102:c.-24A>G NA NA NA NA 2p16.1 NA NA NA NA rs782594 0.36 0.36 0.324 0.315495 0.5239 0.0962 0.4524 0.3169 0.228 0.54 0.11 0.47 0.32 0.4417 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.080615 2.080615 NA 0.512328 0.337875 NA 0.355 NA 2.8554054 1375 11 133712473 133712473 C T intronic SPATA19 NA NA NA intronic ENSG00000166118 NA NA NA NA NA 11q25 NA NA NA NA rs2257004 0.36 0.36 0.341 0.339856 0.3926 0.6022 0.3184 0.1051 0.3476 0.39 0.58 0.33 0.1 0.3786 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.137166 NA NA 0.374098 0.168105 NA 0.297 NA 2.854702 1375 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 1375 14 22670458 22670458 C T intergenic OR4E2,DAD1 dist=536220;dist=363349 NA NA upstream ENSG00000211812 NA NA NA NA NA 14q11.2 NA NA NA NA rs2075494 0.28 0.28 0.256 0.290935 0.1859 0.6101 0.2767 0.0825 0.362 0.19 0.59 0.3 0.07 0.2616 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469854 NA NA 0.198206 0.109569 NA 0.123 NA 2.854294 1375 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 1375 6 32317635 32317635 G A intronic C6orf10 NA NA NA intronic ENSG00000204296 NA NA NA NA NA 6p21.32 NA NA NA NA rs2076537 0.44 0.44 0.451 0.448682 0.4026 0.4325 0.2853 0.5628 0.4744 0.41 0.42 0.33 0.62 0.3821 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.456659 NA NA 0.361203 0.538385 NA 0.464 NA 2.854097 1375 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 1375 4 71110639 71110639 G A intronic CSN3 NA NA NA intronic ENSG00000171209 NA NA NA NA NA 4q13.3 NA NA NA NA rs13103289 0.33 0.33 0.313 0.313898 0.3946 0.3175 0.3963 0.1899 0.3364 0.41 0.32 0.38 0.17 0.3611 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.417638 NA NA 0.390687 0.223762 NA 0.326 NA 2.853613 1375 5 34821825 34821825 C T intronic RAI14 NA NA NA intronic ENSG00000039560 NA NA NA NA NA 5p13.2 NA NA NA NA rs10461947 0.33 0.33 0.286 0.335463 0.3946 0.3542 0.536 0.1051 0.4243 0.38 0.34 0.53 0.1 0.3711 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.668654 2.668654 NA 0.380786 0.153724 NA 0.333 NA 2.853514 1375 1 165389285 165389285 C G intronic RXRG NA NA NA intronic ENSG00000143171 NA NA NA NA NA 1q23.3 NA NA NA NA rs157870 0.37 0.37 0.384 0.360623 0.3887 0.1835 0.4121 0.5915 0.1656 0.36 0.17 0.41 0.6 0.36 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.165434 4.165434 NA 0.397791 0.543123 NA 0.449 NA 2.853509 1375 15 51750846 51750846 G A intronic DMXL2 NA NA NA ncRNA_intronic ENSG00000259668,ENSG00000259678 NA NA NA NA NA 15q21.2 NA NA NA NA rs7165887 0.45 0.45 0.428 0.413538 0.504 0.3968 0.4784 0.3313 0.4029 0.51 0.44 0.46 0.36 0.4798 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.25784 2.25784 NA 0.496855 0.361566 NA 0.319 NA 2.8526783 1375 4 6114421 6114421 C A intronic JAKMIP1 NA NA NA intronic ENSG00000152969 NA NA NA NA NA 4p16.1 NA NA NA NA rs1609743 0.36 0.36 0.147 0.43131 0.4612 0.6081 0.6542 0.0923 0.5184 0.35 0.49 0.52 0.09 0.4779 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265834 NA NA 0.208256 0.032456 NA NA NA 2.852644 1375 15 69728949 69728949 A G exonic KIF23 NA synonymous SNV KIF23:NM_004856:exon14:c.A1443G:p.P481P,KIF23:NM_138555:exon14:c.A1443G:p.P481P exonic ENSG00000137807 NA synonymous SNV ENSG00000137807:ENST00000537891:exon9:c.A894G:p.P298P,ENSG00000137807:ENST00000558585:exon10:c.A894G:p.P298P,ENSG00000137807:ENST00000260363:exon14:c.A1443G:p.P481P,ENSG00000137807:ENST00000352331:exon14:c.A1443G:p.P481P,ENSG00000137807:ENST00000395392:exon14:c.A1443G:p.P481P,ENSG00000137807:ENST00000559279:exon14:c.A1443G:p.P481P NA NA 15q23 NA NA NA NA rs3825858 0.78 0.78 0.773 0.766973 0.9553 0.6776 0.8127 0.5386 0.9417 0.95 0.68 0.84 0.59 0.8903 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 0.876912 NA NA 0.968823 0.614143 NA 0.797 NA 2.8522436 1375 1 34158482 34158482 C T intronic CSMD2 NA NA NA intronic ENSG00000121904 NA NA NA NA NA 1p35.1 NA NA NA NA rs12757320 0.34 0.34 0.337 0.344848 0.3827 0.3254 0.4179 0.2655 0.3814 0.39 0.3 0.4 0.27 0.3832 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605397 NA NA 0.382209 0.259873 ID=COSN163039;OCCURENCE=1(breast) 0.362 NA 2.851891 1375 15 22490019 22490019 T C intergenic OR4N3P,REREP3 dist=75624;dist=56546 NA NA downstream ENSG00000271507 NA NA NA NA NA 15q11.2 NA NA NA NA rs112521162 NA NA 0.167 NA NA NA NA NA NA NA NA NA NA 0.3681 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.499369 NA NA 0.280019 0.159341 NA 0.022 NA 2.851881 1375 X 105179132 105179132 C T intronic NRK NA NA NA intronic ENSG00000123572 NA NA NA NA NA Xq22.3 NA NA NA NA rs209095 0.53 0.53 0.54372 NA NA NA NA NA NA 0.57 0.19 0.4 0.94 0.5312 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 0.207574 NA NA 0.616975 0.900609 NA 0.457 NA 2.851825 1375 11 89880469 89880469 T C intronic NAALAD2 NA NA NA intronic ENSG00000077616 NA NA NA NA NA 11q14.3 NA NA NA NA rs2186748 0.48 0.48 0.475 0.51238 0.3648 0.4177 0.5389 0.6876 0.5061 0.36 0.4 0.54 0.73 0.4297 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 0.515858 NA NA 0.353687 0.613409 ID=COSN164023;OCCURENCE=1(breast) 0.478 NA 2.851813 1375 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 1375 17 3480396 3480396 C T intronic TRPV1 NA NA NA intronic ENSG00000196689,ENSG00000262304 NA NA NA NA NA 17p13.2 NA NA NA NA rs8078936 0.37 0.37 0.338 0.298522 0.3946 0.5218 0.3256 0.1051 0.2117 0.4 0.53 0.38 0.11 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 -0.362973 NA NA 0.354711 0.147648 NA 0.225 NA 2.850589 1375 15 51750652 51750652 G A intronic DMXL2 NA NA NA ncRNA_intronic ENSG00000259668,ENSG00000259678 NA NA NA NA NA 15q21.2 NA NA NA NA rs11630842 0.45 0.45 0.406 0.413538 0.506 0.3958 0.4784 0.3313 0.4018 0.51 0.44 0.46 0.36 0.4804 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.863162 NA NA 0.496389 0.361111 ID=COSN164940;OCCURENCE=1(NS) 0.326 NA 2.8505443 1375 5 79734409 79734409 G A exonic ZFYVE16 NA synonymous SNV ZFYVE16:NM_014733:exon3:c.G1905A:p.S635S,ZFYVE16:NM_001105251:exon4:c.G1905A:p.S635S exonic ENSG00000039319 NA synonymous SNV ENSG00000039319:ENST00000338008:exon3:c.G1905A:p.S635S,ENSG00000039319:ENST00000505560:exon4:c.G1905A:p.S635S,ENSG00000039319:ENST00000510158:exon4:c.G1905A:p.S635S NA NA 5q14.1 NA NA NA NA rs259029 0.9 0.9 0.896 0.873602 0.9433 0.9196 0.938 0.7511 0.8742 0.95 0.93 0.95 0.76 0.9218 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 -0.289146 NA NA 0.951163 0.764639 NA 0.884 NA 2.8504036 1375 3 38408361 38408361 G A exonic XYLB NA synonymous SNV XYLB:NM_005108:exon7:c.G570A:p.T190T exonic ENSG00000093217 NA synonymous SNV ENSG00000093217:ENST00000542835:exon5:c.G159A:p.T53T,ENSG00000093217:ENST00000207870:exon7:c.G570A:p.T190T NA NA 3p22.2 NA NA NA NA rs843890 0.9 0.9 0.875 0.897764 0.9414 1 0.9395 0.7065 0.9765 0.94 1 0.94 0.7 0.9367 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.924682 NA NA 0.938488 0.771675 NA 0.891 NA 2.8500786 1375 4 6114420 6114420 G T intronic JAKMIP1 NA NA NA intronic ENSG00000152969 NA NA NA NA NA 4p16.1 NA NA NA NA rs1543965 0.36 0.36 0.141 0.43131 0.4612 0.6081 0.6542 0.0923 0.5184 0.36 0.49 0.53 0.09 0.4775 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356107 NA NA 0.211395 0.030413 NA NA NA 2.849905 1375 12 104645363 104645363 G A exonic TXNRD1 NA unknown UNKNOWN exonic ENSG00000198431 NA synonymous SNV ENSG00000198431:ENST00000429002:exon2:c.G150A:p.T50T NA NA 12q23.3 NA NA NA NA rs7960443 0.81 0.81 0.811 0.777356 0.836 0.8452 0.7536 0.7163 0.7464 0.84 0.87 0.74 0.74 0.8071 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 0.591086 NA NA 0.840466 0.748333 NA 0.841 NA 2.8497673 1375 10 105204454 105204454 T C intronic PDCD11 NA NA NA intronic ENSG00000148843 NA NA NA NA NA 10q24.33 NA NA NA NA rs942900 0.38 0.38 0.39 0.428115 0.4125 0.3581 0.3963 0.4138 0.5583 0.4 0.34 0.38 0.41 0.4015 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.529429 NA NA 0.336279 0.40581 NA 0.326 NA 2.849721 1375 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 1375 19 439055 439055 G A intronic SHC2 NA NA NA intronic ENSG00000129946 NA NA NA NA NA 19p13.3 NA NA NA NA rs112380345 0.2 0.2 0.177 0.157348 0.3976 0.0129 0.2839 0.028 0.1442 0.38 0.01 0.32 0.04 0.3458 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.570815 1.570815 NA 0.406954 0.076624 NA 0.174 NA 2.849646 1375 17 71357810 71357810 G A intronic SDK2 NA NA NA intronic ENSG00000069188 NA NA NA NA NA 17q25.1 NA NA NA NA rs2279732 0.32 0.32 0.289 0.311701 0.3698 0.4216 0.4366 0.0378 0.4202 0.38 0.4 0.44 0.05 0.3828 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003151 NA NA 0.398023 0.09941 NA 0.333 NA 2.849377 1375 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 1375 17 72297180 72297180 A G intronic DNAI2 NA NA NA intronic ENSG00000171595 NA NA NA NA NA 17q25.1 NA NA NA NA rs8076337 0.27 0.27 0.255 0.261182 0.3936 0.1915 0.2752 0.1657 0.316 0.41 0.17 0.28 0.15 0.3474 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.732973 NA NA 0.410116 0.218793 NA 0.239 NA 2.848884 1375 19 54783923 54783923 A G exonic LILRB2 NA synonymous SNV LILRB2:NM_001080978:exon4:c.T78C:p.I26I,LILRB2:NM_005874:exon4:c.T78C:p.I26I exonic ENSG00000131042 NA synonymous SNV ENSG00000131042:ENST00000391746:exon3:c.T78C:p.I26I,ENSG00000131042:ENST00000314446:exon4:c.T78C:p.I26I,ENSG00000131042:ENST00000391748:exon4:c.T78C:p.I26I,ENSG00000131042:ENST00000391749:exon4:c.T78C:p.I26I NA NA 19q13.42 NA NA NA NA rs366337 0.97 0.97 0.963 0.974042 0.9225 1 0.9539 0.9955 0.9857 0.93 1 0.95 0.99 0.9567 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.087005 NA NA 0.938605 0.988647 NA 0.964 NA 2.8488616 1375 6 33744882 33744882 C G intronic LEMD2 NA NA NA intronic ENSG00000161904 NA NA NA NA NA 6p21.31 NA NA NA NA rs2296747 0.44 0.44 0.409 0.475839 0.3509 0.7798 0.3429 0.2965 0.6278 0.37 0.75 0.34 0.25 0.4265 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 -1.287124 NA NA 0.373953 0.306173 NA 0.514 NA 2.848647 1375 17 74011721 74011721 C A intronic EVPL NA NA NA intronic ENSG00000167880 NA NA NA NA NA 17q25.1 NA NA NA NA rs2665970 0.46 0.46 0.438 0.475639 0.3429 0.7093 0.4294 0.3979 0.5092 0.38 0.7 0.41 0.36 0.4471 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 -0.708937 NA NA 0.361479 0.404405 NA 0.341 NA 2.848521 1375 3 58555386 58555386 G T intronic FAM107A NA NA NA intronic ENSG00000168309 NA NA NA NA NA 3p14.3 NA NA NA NA rs7609991 0.54 0.54 0.504 0.54972 0.3509 0.7778 0.5346 0.4705 0.637 0.36 0.8 0.52 0.53 0.455 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 0.119504 NA NA 0.345706 0.473182 NA 0.529 NA 2.848394 1375 15 89806721 89806721 G A intronic FANCI NA NA NA intronic ENSG00000140525 NA NA NA NA NA 15q26.1 NA NA NA NA rs1981624 0.36 0.36 0.351 0.338259 0.3837 0.3085 0.3919 0.3048 0.3292 0.4 0.31 0.39 0.33 0.3808 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065533 NA NA 0.387183 0.338409 NA 0.37 NA 2.848317 1375 6 84108065 84108065 A T intronic ME1 NA NA NA intronic ENSG00000065833 NA NA NA NA NA 6q14.2 NA NA NA NA rs4706990 0.49 0.49 0.502 0.498003 0.3598 0.4187 0.5735 0.7632 0.3098 0.35 0.4 0.54 0.8 0.4202 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 0.045266 NA NA 0.371744 0.67635 NA 0.5 NA 2.848256 1375 19 58945962 58945962 C T exonic ZNF132 NA synonymous SNV ZNF132:NM_003433:exon3:c.G849A:p.K283K exonic ENSG00000131849 NA synonymous SNV ENSG00000131849:ENST00000254166:exon3:c.G849A:p.K283K NA NA 19q13.43 NA NA NA NA rs9941466 0.96 0.96 0.958 0.955671 0.9284 0.9722 0.9395 0.9962 0.9233 0.93 0.97 0.95 1 0.9453 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.473152 NA NA 0.944871 0.991375 NA 0.964 NA 2.8480956 1375 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 1375 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 1375 X 119394904 119394904 G T intronic TMEM255A NA NA NA intronic ENSG00000125355 NA NA NA NA NA Xq24 NA NA NA NA rs3752341 0.5 0.5 NA NA NA NA NA NA NA 0.6 0.61 0.49 0.24 0.5356 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.694951 NA NA 0.617424 0.282473 NA 0.333 NA 2.846976 1375 4 6114422 6114422 C A intronic JAKMIP1 NA NA NA intronic ENSG00000152969 NA NA NA NA NA 4p16.1 NA NA NA NA rs1543966 0.36 0.36 0.153 0.43131 0.4612 0.6081 0.6542 0.0923 0.5184 0.36 0.5 0.53 0.09 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 -0.005736 NA NA 0.214651 0.03291 NA NA NA 2.846449 1375 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 1375 12 52778772 52778772 C T intronic KRT84 NA NA NA ncRNA_intronic ENSG00000258253 NA NA NA NA NA 12q13.13 NA NA NA NA rs1732303 0.81 0.81 0.811 0.826278 0.7346 0.7421 0.8545 0.947 0.8241 0.73 0.8 0.83 0.91 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 0.246654 NA NA 0.752888 0.928653 NA 0.754 NA 2.8458453 1375 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 1375 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 1375 4 75938373 75938373 C G intronic PARM1 NA NA NA ncRNA_intronic ENSG00000248165 NA NA NA NA NA 4q13.3 NA NA NA NA rs919052 0.4 0.4 0.4 0.410343 0.5338 0.2143 0.3473 0.4115 0.5286 0.55 0.22 0.36 0.4 0.4566 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.014638 NA NA 0.497474 0.409369 ID=COSN167241;OCCURENCE=1(large_intestine) 0.326 NA 2.8454593 1375 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 1376 10 119768551 119768551 C T exonic RAB11FIP2 NA synonymous SNV RAB11FIP2:NM_014904:exon5:c.G1497A:p.P499P exonic ENSG00000107560 NA synonymous SNV ENSG00000107560:ENST00000355624:exon5:c.G1497A:p.P499P,ENSG00000107560:ENST00000369199:exon6:c.G1557A:p.P519P NA NA 10q26.11 NA NA NA NA rs7923321 0.79 0.79 0.801 0.78754 0.9602 0.5794 0.879 0.6989 0.8793 0.95 0.58 0.89 0.72 0.8967 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 0.628283 NA NA 0.965 0.729233 NA 0.812 NA 2.8447666 1376 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 1376 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 1376 7 142139348 142139348 C T intergenic LOC730441,MTRNR2L6 dist=167280;dist=234783 NA NA exonic ENSG00000211727 NA nonsynonymous SNV ENSG00000211727:ENST00000390374:exon2:c.G277A:p.V93I NA NA 7q34 Score=770;Name=V$PAX5_02 NA NA NA rs73742284 0.83 0.83 0.87 0.992412 1 1 0.9971 0.9728 1 0.82 0.85 0.9 0.77 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 0.457193 NA 0.51 0.998559 0.978665 NA 0.986 NA 2.8439744 1376 11 102666316 102666316 T C exonic MMP1 NA synonymous SNV MMP1:NM_001145938:exon5:c.A450G:p.A150A,MMP1:NM_002421:exon5:c.A648G:p.A216A exonic ENSG00000196611 NA synonymous SNV ENSG00000196611:ENST00000315274:exon5:c.A648G:p.A216A NA NA 11q22.2 NA NA NA NA rs470558 0.94 0.94 0.948 0.93131 0.9483 0.8899 0.8876 0.9947 0.9018 0.94 0.89 0.92 0.99 0.9304 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 -0.634176 NA NA 0.944057 0.987063 NA 0.957 NA 2.8439096 1376 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 1376 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 1376 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 1376 17 41332804 41332804 T C intronic NBR1 NA NA NA exonic ENSG00000188554 NA synonymous SNV ENSG00000188554:ENST00000389312:exon5:c.T177C:p.V59V Score=509;Name=lod=156 NA 17q21.31 NA NA NA NA rs9904555 0.97 0.97 0.962 0.961661 1 1 0.987 0.8616 1 1 1 0.98 0.88 0.9904 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.463576 1.463576 NA 0.99963 0.879437 NA 0.957 NA 2.8433033 1376 1 29652068 29652068 T C intronic PTPRU NA NA NA intronic ENSG00000060656 NA NA NA NA NA 1p35.3 NA NA NA NA rs2076618 0.45 0.45 0.439 0.46845 0.3926 0.5615 0.4294 0.4168 0.5481 0.38 0.57 0.4 0.45 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 -0.504607 NA NA 0.349302 0.458693 NA 0.319 NA 2.842998 1376 11 7847466 7847466 A G exonic OR5P3 NA synonymous SNV OR5P3:NM_153445:exon1:c.T54C:p.S18S exonic ENSG00000182334 NA synonymous SNV ENSG00000182334:ENST00000328375:exon1:c.T54C:p.S18S NA NA 11p15.4 NA NA NA NA rs1482792 0.83 0.83 0.812 0.80651 0.9553 0.6091 0.938 0.7292 0.8681 0.97 0.65 0.93 0.76 0.9118 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 -0.008192 NA NA 0.956923 0.786633 NA 0.899 NA 2.8426436 1376 15 89862366 89862366 T C intronic POLG NA NA NA intronic ENSG00000140521 NA NA NA NA NA 15q26.1 NA NA NA NA rs2246900 0.32 0.32 0.302 0.291134 0.3926 0.3155 0.3545 0.1225 0.3446 0.42 0.32 0.35 0.16 0.3719 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206756 NA NA 0.392882 0.154318 NA 0.254 NA 2.842618 1376 4 187175722 187175722 T A intronic KLKB1 NA NA NA intronic ENSG00000164344 NA NA NA NA NA 4q35.2 NA NA NA NA rs2292423 0.34 0.34 0.323 0.297524 0.4066 0.373 0.33 0.2511 0.1472 0.41 0.33 0.36 0.23 0.3512 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.587573 NA NA 0.399651 0.272583 ID=COSN167387;OCCURENCE=1(large_intestine) 0.283 NA 2.842549 1376 10 1263076 1263076 C T intronic ADARB2 NA NA NA intronic ENSG00000185736 NA NA NA NA NA 10p15.3 NA NA NA NA rs3750677 0.34 0.34 0.346 0.348043 0.3877 0.4256 0.2911 0.2012 0.4663 0.4 0.41 0.33 0.2 0.4021 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105933 NA NA 0.367846 0.208674 NA 0.239 NA 2.842354 1376 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 1376 19 4288220 4288220 C T intronic SHD NA NA NA intronic ENSG00000105251 NA NA NA NA NA 19p13.3 NA NA NA NA rs888929 0.46 0.46 0.454 0.483227 0.3777 0.3393 0.5591 0.618 0.5041 0.38 0.35 0.54 0.67 0.4138 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 -0.12135 NA NA 0.366744 0.573309 NA 0.594 NA 2.841756 1376 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 1376 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 1376 2 102984279 102984279 T C intronic IL18R1 NA NA NA intronic ENSG00000115604 NA NA NA NA NA 2q12.1 NA NA NA NA rs1420098 0.34 0.34 0.337 0.329273 0.3777 0.4593 0.255 0.2171 0.3497 0.38 0.43 0.28 0.21 0.3969 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.443901 NA NA 0.38407 0.230595 NA 0.442 NA 2.84133 1376 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 1376 10 88233628 88233628 C G intronic WAPAL NA NA NA intronic ENSG00000062650 NA NA NA NA NA 10q23.2 NA NA NA NA rs3758520 0.3 0.3 0.283 0.263778 0.3897 0.254 0.3372 0.1611 0.2311 0.4 0.25 0.32 0.19 0.3558 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.252633 2.252633 NA 0.413605 0.216296 NA 0.442 NA 2.840895 1376 2 219143229 219143229 G A intronic PNKD,TMBIM1 NA NA NA intronic ENSG00000127838,ENSG00000135926 NA NA NA NA NA 2q35 NA NA NA NA rs2292551 0.33 0.33 0.306 0.327276 0.3698 0.377 0.402 0.1952 0.3579 0.36 0.36 0.38 0.21 0.3785 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.990911 1.990911 NA 0.411047 0.25261 NA 0.304 NA 2.840653 1376 1 887801 887801 A G exonic NOC2L NA synonymous SNV NOC2L:NM_015658:exon10:c.T1182C:p.T394T exonic ENSG00000188976 NA synonymous SNV ENSG00000188976:ENST00000327044:exon10:c.T1182C:p.T394T NA NA 1p36.33 NA NA NA NA rs3828047 0.93 0.93 0.92 0.922324 0.9523 0.9206 0.9193 0.9062 0.9172 0.95 0.92 0.92 0.9 0.9355 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 -0.769518 NA NA 0.938372 0.906037 ID=COSM426785;OCCURENCE=1(breast) 0.935 NA 2.8404946 1376 19 4288205 4288205 T C intronic SHD NA NA NA intronic ENSG00000105251 NA NA NA NA NA 19p13.3 NA NA NA NA rs888928 0.47 0.47 0.463 0.488219 0.3787 0.3492 0.562 0.6278 0.5031 0.38 0.35 0.54 0.68 0.414 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.317578 NA NA 0.36686 0.581026 NA 0.594 NA 2.84044 1376 7 158444975 158444975 T G intronic NCAPG2 NA NA NA intronic ENSG00000146918 NA NA NA NA NA 7q36.3 NA NA Name=31 NA rs1466210 0.79 0.79 0.766 0.801518 0.7187 0.9583 0.8156 0.7269 0.816 0.72 0.96 0.79 0.69 0.7492 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 0.124051 NA NA 0.691816 0.776242 NA 0.768 NA 2.840284 1376 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 1376 13 110817171 110817171 G C intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs1816884 0.43 0.43 0.391 0.404553 0.3897 0.7252 0.3545 0.1853 0.4213 0.39 0.73 0.39 0.17 0.402 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 -0.478751 NA NA 0.368366 0.214156 NA 0.319 NA 2.839934 1376 20 21142523 21142523 C G exonic PLK1S1 NA unknown UNKNOWN ncRNA_exonic ENSG00000088970 NA NA NA NA NA 20p11.23 NA NA NA NA rs4815025 0.54 0.54 0.505 0.559105 0.665 0.5625 0.572 0.2905 0.8006 0.68 0.54 0.57 0.28 0.6489 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.036415 NA 1 0.679708 0.379265 NA 0.565 NA 2.8397253 1376 4 5743509 5743509 C T exonic EVC NA synonymous SNV EVC:NM_153717:exon6:c.C769T:p.L257L exonic ENSG00000072840 NA synonymous SNV ENSG00000072840:ENST00000264956:exon6:c.C769T:p.L257L,ENSG00000072840:ENST00000382674:exon6:c.C769T:p.L257L,ENSG00000072840:ENST00000509451:exon6:c.C769T:p.L257L NA NA 4p16.2 NA NA NA NA rs6446393 0.98 0.98 0.977 0.966653 0.9443 0.999 0.9827 0.9977 0.9029 0.95 1 0.98 1 0.9456 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.967462 NA NA 0.937369 0.989101 NA 0.971 NA 2.8393976 1376 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 1376 5 26889902 26889902 A C intronic CDH9 NA NA NA intronic ENSG00000113100 NA NA NA NA NA 5p14.1 NA NA NA NA rs13190383 0.28 0.28 0.274 0.307708 0.4016 0.1855 0.3689 0.1785 0.4683 0.39 0.2 0.35 0.16 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 1.005743 NA NA 0.378901 0.208391 NA 0.399 NA 2.838799 1376 15 79058572 79058572 T G exonic ADAMTS7 NA synonymous SNV ADAMTS7:NM_014272:exon19:c.A3681C:p.R1227R exonic ENSG00000136378 NA synonymous SNV ENSG00000136378:ENST00000388820:exon19:c.A3681C:p.R1227R NA NA 15q25.1 NA NA NA NA rs1809421 0.94 0.94 0.94 0.929313 0.9473 0.9851 0.8977 0.8722 0.953 0.94 0.99 0.89 0.9 0.9311 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 -0.086848 NA NA 0.949779 0.899544 NA 0.746 NA 2.8384876 1376 14 22694926 22694926 C T intergenic OR4E2,DAD1 dist=560688;dist=338881 NA NA exonic ENSG00000211815 NA synonymous SNV ENSG00000211815:ENST00000390463:exon2:c.C117T:p.T39T NA NA 14q11.2 NA NA NA NA rs2075496 0.51 0.51 0.536 0.503994 0.5815 0.2728 0.4957 0.6331 0.4939 0.58 0.31 0.5 0.65 0.5199 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.106419 NA NA 0.560702 0.618576 NA 0.565 NA 2.837898 1376 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 1376 17 1371123 1371123 T C intronic MYO1C NA NA NA intronic ENSG00000197879 NA NA NA NA NA 17p13.3 NA Name=CHD2_(N-1250),TR4 NA NA rs8072859 0.71 0.71 0.726 0.736821 0.6998 0.5546 0.7075 0.9251 0.729 0.69 0.55 0.73 0.93 0.7301 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 -0.618932 NA NA 0.732488 0.88687 NA 0.725 NA 2.837612 1376 10 105201565 105201565 G A intronic PDCD11 NA NA NA intronic ENSG00000148843 NA NA NA NA NA 10q24.33 NA NA NA NA rs2281861 0.38 0.38 0.402 0.410144 0.4026 0.3532 0.3905 0.3828 0.5276 0.4 0.34 0.38 0.39 0.3895 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.472965 NA NA 0.370698 0.388561 NA 0.348 NA 2.837202 1376 16 8738398 8738398 A G intronic METTL22 NA NA NA exonic ENSG00000067365 NA synonymous SNV ENSG00000067365:ENST00000572956:exon6:c.A411G:p.R137R NA NA 16p13.2 NA Name=Max,c-Myc NA NA rs1641065 0.99 0.99 0.996 0.985823 1 1 0.9928 0.9501 1 1 1 0.99 0.97 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 0.307379 NA NA 1 0.959751 NA 0.993 NA 2.8371333 1376 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 1376 11 34511541 34511541 C A intronic ELF5 NA NA NA intronic ENSG00000135374 NA NA NA NA NA 11p13 NA NA NA NA rs2231825 0.23 0.23 0.208 0.200679 0.4105 0.0288 0.2378 0.0741 0.3067 0.43 0.03 0.29 0.09 0.3392 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.289804 NA NA 0.413564 0.121253 NA 0.268 NA 2.836736 1376 7 121080929 121080929 A G intergenic FAM3C,PTPRZ1 dist=44507;dist=432230 NA NA ncRNA_exonic ENSG00000234985 NA NA NA Score=582;Name=lod=310 NA 7q31.31 NA NA NA NA rs6961822 0.6 0.6 0.574 0.539936 0.7505 0.6329 0.6556 0.2337 0.5593 0.75 0.67 0.66 0.26 0.6689 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 -0.071693 NA NA 0.743883 0.329062 NA 0.514 NA 2.836717 1376 16 53878247 53878247 A G intronic FTO NA NA NA intronic ENSG00000140718 NA NA NA NA NA 16q12.2 NA NA NA NA rs62033438 0.42 0.42 0.408 0.429712 0.3936 0.4772 0.4337 0.3578 0.5123 0.37 0.49 0.45 0.38 0.3908 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605567 NA NA 0.37907 0.374886 NA 0.297 NA 2.83653 1376 21 45978503 45978503 G A exonic KRTAP10-3 NA synonymous SNV KRTAP10-3:NM_198696:exon1:c.C96T:p.C32C exonic ENSG00000212935 NA synonymous SNV ENSG00000212935:ENST00000391620:exon1:c.C96T:p.C32C NA NA 21q22.3 NA NA NA NA rs435424 0.83 0.83 0.87 0.868011 0.9563 0.753 0.8545 0.8835 0.8845 0.9 0.7 0.88 0.85 0.9194 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 -1.330581 NA NA 0.954706 0.876506 NA 0.674 NA 2.8362606 1376 7 142429001 142429001 C T intergenic MTRNR2L6,PRSS1 dist=53476;dist=28318 NA NA downstream ENSG00000211753 NA NA NA NA NA 7q34 NA NA Name=2 NA rs17213 0.52 0.52 0.49 0.498403 0.5517 0.7024 0.4683 0.1906 0.6708 0.56 0.69 0.53 0.24 0.5632 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 -0.822326 NA NA 0.549796 0.210922 NA 0.514 NA 2.835304 1376 7 151048484 151048484 G A intronic NUB1 NA NA NA intronic ENSG00000013374 NA NA NA NA NA 7q36.1 NA Name=CTCF NA NA rs449081 0.72 0.72 0.695 0.670527 0.7217 0.874 0.7939 0.4622 0.6022 0.73 0.89 0.81 0.45 0.73 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 0.382813 NA NA 0.713153 0.487772 NA 0.667 NA 2.835147 1376 X 47658046 47658046 C T intergenic CXXC1P1,ZNF81 dist=62019;dist=38255 NA NA ncRNA_exonic ENSG00000188459 NA NA NA NA NA Xp11.23 NA NA NA NA rs723119 0.58 0.58 0.58029 NA NA NA NA NA NA 0.59 0.7 0.55 0.46 0.6013 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 -0.817064 NA NA 0.563569 0.52108 NA 0.377 NA 2.835131 1377 16 15853596 15853596 C G intronic MYH11 NA NA NA intronic ENSG00000133392 NA NA NA NA NA 16p13.11 NA NA NA NA rs2280764 0.55 0.55 0.547 0.534345 0.3757 0.6567 0.3775 0.7352 0.411 0.39 0.71 0.36 0.76 0.4164 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 0.3669 NA NA 0.37314 0.669094 NA 0.478 NA 2.83476 1377 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 1377 2 219144089 219144089 G A intronic PNKD,TMBIM1 NA NA NA intronic ENSG00000127838,ENSG00000135926 NA NA NA NA NA 2q35 NA NA NA NA rs12987180 0.33 0.33 0.313 0.327077 0.3698 0.376 0.402 0.1952 0.3579 0.36 0.36 0.38 0.21 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 -0.934777 NA NA 0.41093 0.25261 NA 0.312 NA 2.83457 1377 10 69959097 69959097 G T intronic MYPN NA NA NA intronic ENSG00000138347 NA NA NA Score=514;Name=lod=163 NA 10q21.3 NA NA NA NA rs7079549 0.57 0.57 0.546 0.538139 0.7455 0.3581 0.7233 0.3896 0.5798 0.75 0.38 0.69 0.41 0.6729 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 3.538448 3.538448 NA 0.747326 0.457785 NA 0.536 NA 2.834274 1377 8 30608976 30608976 C T exonic UBXN8 NA unknown UNKNOWN ncRNA_exonic ENSG00000104691 NA NA NA Score=499;Name=lod=142 NA 8p12 NA NA NA NA rs2911690 1 1 0.999 0.997604 1 1 1 0.9909 1 1 1 1 0.99 0.9994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.106105 4.106105 1 1 0.993348 NA 1 NA 2.8339333 1377 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 1377 1 29649874 29649874 T C intronic PTPRU NA NA NA intronic ENSG00000060656 NA NA NA NA NA 1p35.3 NA NA NA NA rs10915252 0.44 0.44 0.414 0.451278 0.3917 0.5605 0.4265 0.3555 0.547 0.38 0.57 0.4 0.39 0.4294 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205596 NA NA 0.345742 0.40059 NA 0.29 NA 2.833158 1377 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 1377 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 1377 22 29669693 29669693 T C intronic EWSR1 NA NA NA intronic ENSG00000182944 NA NA NA NA NA 22q12.2 NA NA NA NA rs4820804 0.33 0.33 0.288 0.33766 0.3688 0.2887 0.5274 0.1884 0.4233 0.36 0.3 0.51 0.19 0.3949 0.51 NA NA 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 0.404535 0.213118 NA 0.362 NA 2.831765 1377 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 1377 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 1377 16 56673148 56673148 A G intronic MT1A NA NA NA intronic ENSG00000205362 NA NA NA NA NA 16q12.2 NA NA Name=4 NA rs11076161 0.66 0.66 0.636 0.63758 0.7247 0.6518 0.6916 0.4879 0.6973 0.72 0.7 0.72 0.48 0.7049 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.738988 NA NA 0.739302 0.535942 NA 0.681 NA 2.831098 1377 2 162821515 162821515 G A intronic SLC4A10 NA NA NA intronic ENSG00000144290 NA NA NA NA NA 2q24.2 NA NA NA NA rs4233647 0.23 0.23 0.205 0.243011 0.3887 0.0129 0.4438 0.0976 0.3845 0.4 0.01 0.4 0.11 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 0.007688 NA NA 0.418593 0.151312 NA 0.254 NA 2.830907 1377 16 56673143 56673143 A G intronic MT1A NA NA NA intronic ENSG00000205362 NA NA NA NA NA 16q12.2 NA NA Name=4 NA rs11076160 0.66 0.66 0.641 0.638179 0.7247 0.6518 0.6931 0.4894 0.6973 0.72 0.7 0.72 0.48 0.7051 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.707665 NA NA 0.739419 0.536624 NA 0.681 NA 2.830781 1377 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=GTF2F1_(RAP-74),TBP,c-Fos,NF-YB,YY1,SIX5,SREBP1,STAT3,YY1_(C-20),Nrf1,SP1,HEY1,KAP1,ELF1_(SC-631),STAT1,NF-YA,RFX5_(N-494),TAF1,IRF3,NFKB,Pol2-4H8,SP2_(SC-643),Pol2,Pol2(phosphoS2),CHD2_(N-1250) 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 1377 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 1377 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 1377 20 43547537 43547537 A G intronic PABPC1L NA NA NA intronic ENSG00000101104 NA NA NA NA NA 20q13.12 NA NA NA NA rs2072728 0.4 0.4 0.411 0.428914 0.3996 0.3274 0.281 0.5787 0.4663 0.39 0.32 0.3 0.58 0.3901 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.335388 NA NA 0.380514 0.527742 NA 0.514 NA 2.829786 1377 8 133048593 133048593 C T intronic OC90 NA NA NA intronic ENSG00000253117,ENSG00000258417 NA NA NA NA NA 8q24.22 NA NA NA NA rs1472571 0.39 0.39 0.356 0.36901 0.4105 0.5099 0.4769 0.1611 0.3855 0.4 0.5 0.46 0.21 0.388 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047 NA NA 0.371742 0.214363 NA 0.341 NA 2.829758 1377 6 5217010 5217010 C T intronic LYRM4 NA NA NA intronic ENSG00000214113 NA NA NA NA NA 6p25.1 NA NA NA NA rs41302851 0.32 0.32 0.28 0.323882 0.3887 0.4613 0.3429 0.0522 0.4693 0.41 0.44 0.33 0.06 0.3839 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.054596 NA NA 0.398372 0.114163 ID=COSN167679;OCCURENCE=1(large_intestine) 0.297 NA 2.829028 1377 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 1377 7 99802812 99802812 G C intronic GATS,STAG3 NA NA NA ncRNA_intronic ENSG00000239521 NA NA NA NA NA 7q22.1 NA NA NA NA rs2246713 0.47 0.47 0.496 0.48103 0.505 0.3194 0.3646 0.5651 0.592 0.5 0.35 0.44 0.59 0.497 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.389584 NA NA 0.503023 0.516568 NA 0.457 NA 2.8283103 1377 6 29910496 29910496 C G intronic HLA-A NA NA NA ncRNA_exonic ENSG00000227766 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8,CTCF,Pol2 NA NA rs2904759 0.89 0.89 0.786 0.926917 0.8529 0.9841 0.9092 0.9342 0.9468 0.81 0.97 0.86 0.93 0.8392 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 0.716599 NA NA 0.8147 0.881742 NA 0.696 NA 2.8265333 1377 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 1377 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 1377 6 112457471 112457471 G A intronic LAMA4 NA NA NA intronic ENSG00000112769 NA NA NA NA NA 6q21 NA NA NA NA rs2032568 0.8 0.8 0.798 0.840455 0.7087 0.873 0.83 0.8828 0.8926 0.69 0.86 0.8 0.88 0.7694 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 -0.368886 NA NA 0.69593 0.863595 NA 0.71 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000037363.1|RCV000126525.1;CLNDSDB=.|.;CLNDSDBID=.|. 2.82597 1377 15 57838258 57838258 T C intronic CGNL1 NA NA NA intronic ENSG00000128849 NA NA NA NA NA 15q21.3 NA Name=CTCF NA NA rs2635390 0.66 0.66 0.651 0.656949 0.7326 0.6032 0.7118 0.5802 0.6994 0.74 0.61 0.7 0.56 0.7151 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.532173 NA NA 0.726584 0.611314 NA 0.775 NA 2.825716 1377 X 117742356 117742356 C T intronic DOCK11 NA NA NA intronic ENSG00000147251 NA NA NA NA NA Xq24 NA NA NA NA rs5910394 0.57 0.57 0.57313 NA NA NA NA NA NA 0.58 0.84 0.6 0.21 0.5952 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 0.297199 NA NA 0.579167 0.261768 NA 0.348 NA 2.825633 1377 6 31496776 31496776 T G UTR5 MCCD1 NM_001011700:c.-16T>G NA NA UTR5 ENSG00000204511 ENST00000376191:c.-16T>G NA NA NA NA 6p21.33 NA Name=Pol2,ZNF263 NA NA rs3130054 0.88 0.88 0.879 0.883986 0.83 0.9028 0.8862 0.8964 0.9018 0.83 0.91 0.88 0.91 0.8582 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 -0.026162 NA NA 0.820044 0.903044 NA 0.913 NA 2.8250894 1377 5 13850739 13850739 T A intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA NA NA NA rs4701988 0.4 0.4 0.376 0.357029 0.3966 0.5744 0.4222 0.1581 0.3149 0.4 0.59 0.43 0.14 0.3818 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.165094 NA NA 0.396512 0.213345 NA 0.326 NA 2.825088 1378 4 187130198 187130198 A G intronic CYP4V2 NA NA NA intronic ENSG00000145476,ENSG00000164344 NA NA NA NA NA 4q35.2 NA NA NA NA rs2276918 0.34 0.34 0.338 0.298722 0.4056 0.3413 0.2968 0.3003 0.1442 0.41 0.3 0.31 0.29 0.3497 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.655291 NA NA 0.419767 0.307989 ID=COSN167385;OCCURENCE=1(large_intestine) 0.312 NA 2.824933 1378 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=SREBP1,PAX5-C20,Mxi1_(bHLH),NRSF,Sin3Ak-20,SIX5,E2F4,c-Myc,Oct-2,SP1,Nrf1,IRF1,Max,TCF4,YY1_(C-20),BHLHE40,ZNF263,YY1,CEBPB,ELK4,PAX5-N19,CCNT2,TBP,E2F6,POU2F2,E2F6_(H-50),Ini1,p300,TCF12,USF1_(SC-8983),CHD2_(N-1250),HA-E2F1,GATA-2,USF2,Pol2,FOSL2,USF-1,Pol2(phosphoS2),ATF3,GATA-1,E2F1,KAP1,HEY1,GRp20,ELF1_(SC-631),ETS1,Pol2-4H8,GABP,RFX5_(N-494),TAF1,NFKB 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 1378 7 103207234 103207234 T C intronic RELN NA NA NA intronic ENSG00000189056 NA NA NA NA NA 7q22.1 NA NA NA NA rs362726 0.48 0.48 0.471 0.473642 0.3817 0.4702 0.4294 0.6596 0.3517 0.38 0.47 0.48 0.63 0.4137 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.581104 NA NA 0.379767 0.638221 NA 0.377 NA 2.824833 1378 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 1378 6 159682206 159682206 C T intronic FNDC1 NA NA NA intronic ENSG00000164694 NA NA NA Score=265;Name=lod=16 NA 6q25.3 NA NA NA NA rs294883 0.66 0.66 0.635 0.642173 0.7495 0.6577 0.6816 0.5416 0.6237 0.76 0.64 0.72 0.5 0.691 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 1.812094 1.812094 NA 0.73515 0.558888 NA 0.71 NA 2.82435 1378 6 29796115 29796115 A C intronic HLA-G NA NA NA ncRNA_exonic ENSG00000229142 NA NA NA NA NA 6p22.1 NA NA NA NA rs1736927 0.57 0.57 0.502 0.623403 0.4602 0.619 0.562 0.6694 0.7771 0.45 0.65 0.57 0.65 0.5481 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 0.024088 NA NA 0.501107 0.633355 NA 0.616 NA 2.8239263 1378 8 21973970 21973970 C A intronic HR NA NA NA intronic ENSG00000168453 NA NA NA NA NA 8p21.3 NA NA NA NA rs6557829 0.34 0.34 0.344 0.336661 0.3847 0.37 0.2522 0.2625 0.4131 0.38 0.38 0.28 0.26 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 0.617333 NA NA 0.407093 0.278636 NA 0.384 NA 2.823907 1378 15 89736558 89736558 T C intronic ABHD2 NA NA NA intronic ENSG00000140526 NA NA NA NA NA 15q26.1 NA NA NA NA rs6496562 0.33 0.33 0.334 0.329473 0.3926 0.2073 0.281 0.3782 0.3589 0.41 0.21 0.28 0.38 0.3736 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.489427 2.489427 NA 0.409979 0.360682 NA 0.333 NA 2.823821 1378 17 6661584 6661584 T C intronic XAF1 NA NA NA intronic ENSG00000132530 NA NA NA NA NA 17p13.1 NA NA NA NA rs4796550 0.54 0.54 0.564 0.597244 0.3608 0.6419 0.4366 0.8548 0.5603 0.35 0.63 0.4 0.84 0.4533 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 -0.330699 NA NA 0.362209 0.764185 NA 0.58 NA 2.823691 1378 17 80039028 80039028 A G intronic FASN NA NA NA intronic ENSG00000169710 NA NA NA NA NA 17q25.3 NA Name=ZBTB33 NA NA rs4246445 0.68 0.68 0.676 0.664337 0.7465 0.4236 0.7666 0.8109 0.5573 0.75 0.46 0.73 0.8 0.6901 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 -0.525181 NA NA 0.739776 0.783517 NA 0.63 NA 2.823624 1378 8 22053123 22053123 T C intronic BMP1 NA NA NA intronic ENSG00000168487 NA NA NA NA NA 8p21.3 NA NA NA NA rs4075478 0.52 0.52 0.532 0.522963 0.4016 0.5417 0.5576 0.671 0.4039 0.4 0.55 0.5 0.71 0.4216 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802498 NA NA 0.353354 0.606587 NA 0.471 NA 2.823446 1378 2 55589434 55589434 T A intronic CCDC88A NA NA NA intronic ENSG00000115355 NA NA NA NA NA 2p16.1 NA NA NA NA rs3111412 0.53 0.53 0.535 0.543331 0.337 0.8532 0.3689 0.6331 0.4387 0.32 0.85 0.33 0.63 0.435 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 0.052209 NA NA 0.405493 0.575647 NA 0.5 NA 2.822507 1378 2 27688601 27688601 C T intronic IFT172 NA NA NA intronic ENSG00000138002 NA NA NA NA NA 2p23.3 NA NA NA NA rs1647276 0.4 0.4 0.411 0.454073 0.3748 0.1667 0.4827 0.7322 0.4356 0.38 0.14 0.42 0.71 0.4187 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.79256 NA NA 0.384186 0.663867 NA 0.609 NA 2.822314 1378 5 433952 433952 C T intronic AHRR NA NA NA intronic ENSG00000063438 NA NA NA NA NA 5p15.33 NA NA NA NA rs2672724 0.43 0.43 0.454 0.464457 0.3767 0.375 0.3343 0.6906 0.4335 0.36 0.37 0.34 0.66 0.415 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 -0.441418 NA NA 0.386028 0.611166 NA 0.529 NA 2.822272 1378 X 23700473 23700473 G A intronic PRDX4 NA NA NA intronic ENSG00000123131 NA NA NA NA NA Xp22.11 NA NA NA NA rs552105 0.66 0.66 0.6566 NA NA NA NA NA NA 0.59 0.78 0.66 0.65 0.603 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 2.1342 2.1342 NA 0.574762 0.612777 NA 0.493 NA 2.822238 1378 10 33190567 33190567 C A intronic ITGB1 NA NA NA intronic ENSG00000150093 NA NA NA Score=556;Name=lod=243 NA 10p11.22 NA NA NA NA rs2153875 0.55 0.55 0.501 0.511182 0.7406 0.501 0.7579 0.1853 0.5511 0.74 0.48 0.73 0.2 0.6755 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 0.466729 NA NA 0.761744 0.267817 NA 0.507 NA 2.822156 1378 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 1378 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 1378 5 13914796 13914796 T C intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA NA NA NA rs13162553 0.57 0.57 0.556 0.528554 0.3797 0.8482 0.4496 0.5666 0.3569 0.4 0.86 0.48 0.55 0.421 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 0.719166 NA NA 0.377879 0.523398 NA 0.478 NA 2.821421 1378 3 45542083 45542083 T C ncRNA_intronic LARS2-AS1 NA NA NA ncRNA_intronic ENSG00000232455 NA NA NA NA NA 3p21.31 NA NA NA NA rs2306522 0.55 0.55 0.472 0.503395 0.6093 0.7788 0.647 0.0877 0.5706 0.61 0.79 0.63 0.09 0.6073 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 -0.420051 NA NA 0.628721 0.178393 NA 0.551 NA 2.8213456 1378 1 17555316 17555316 C G intronic PADI1 NA NA NA intronic ENSG00000142623 NA NA NA NA NA 1p36.13 NA NA NA NA rs2977233 0.3 0.3 0.292 0.295527 0.4294 0.0923 0.2954 0.3396 0.3078 0.44 0.08 0.28 0.37 0.3579 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287781 NA NA 0.391628 0.34453 NA 0.268 NA 2.821072 1378 6 29796103 29796103 T C intronic HLA-G NA NA NA ncRNA_exonic ENSG00000229142 NA NA NA NA NA 6p22.1 NA NA NA NA rs1626038 0.57 0.57 0.532 0.623403 0.4602 0.619 0.562 0.6694 0.7771 0.45 0.65 0.57 0.65 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 0.148216 NA NA 0.499631 0.633355 NA 0.572 NA 2.8210023 1378 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 1378 4 77637502 77637502 A C intronic SHROOM3 NA NA NA intronic ENSG00000138771 NA NA NA NA NA 4q21.1 NA NA NA NA rs344122 0.67 0.67 0.672 0.683307 0.7117 0.5843 0.7003 0.7156 0.7004 0.71 0.54 0.73 0.74 0.7196 0.75 0.1 T . . . . . . 1.000 P . . . . -1.023 T 0.000 T . 0.767 8.056 1.43 -0.089 0.145 2.508 0.767066 NA 0.16 0.748117 0.715183 NA 0.703 NA 2.820583 1378 1 222705270 222705270 T C intronic HHIPL2 NA NA NA intronic ENSG00000143512 NA NA NA NA NA 1q41 NA NA NA NA rs4846373 0.56 0.56 0.547 0.550519 0.3569 0.6548 0.5951 0.7451 0.3476 0.36 0.66 0.52 0.76 0.4443 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 0.435137 NA NA 0.378256 0.691103 NA 0.536 NA 2.820544 1378 2 141747249 141747249 A T intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA NA NA 2q22.1 NA NA NA NA rs1429365 0.5 0.5 0.521 0.527356 0.4105 0.6181 0.389 0.6082 0.5429 0.42 0.63 0.41 0.57 0.4158 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.125621 NA NA 0.353256 0.553336 NA 0.558 NA 2.820444 1378 5 13914775 13914775 G T intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA NA NA NA rs13180591 0.57 0.57 0.55 0.528754 0.3797 0.8492 0.4496 0.5666 0.3569 0.4 0.86 0.48 0.55 0.4216 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 0.496871 NA NA 0.378693 0.523604 NA 0.457 NA 2.820007 1378 10 91162497 91162497 A G exonic IFIT1 NA synonymous SNV IFIT1:NM_001548:exon2:c.A465G:p.K155K,IFIT1:NM_001270927:exon3:c.A465G:p.K155K,IFIT1:NM_001270928:exon3:c.A372G:p.K124K,IFIT1:NM_001270929:exon3:c.A372G:p.K124K,IFIT1:NM_001270930:exon3:c.A372G:p.K124K exonic ENSG00000185745 NA synonymous SNV ENSG00000185745:ENST00000371804:exon2:c.A465G:p.K155K,ENSG00000185745:ENST00000546318:exon2:c.A372G:p.K124K NA NA 10q23.31 NA NA NA NA rs303211 0.97 0.97 0.976 0.976637 0.9433 1 0.9481 0.9962 0.9806 0.94 1 0.94 0.99 0.9606 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.666386 NA NA 0.942791 0.989333 ID=COSM1127983;OCCURENCE=1(prostate) 1 NA 2.8199756 1378 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 1378 7 99818137 99818137 G A intronic GATS,PVRIG NA NA NA ncRNA_UTR3 ENSG00000066923 NA NA NA NA NA 7q22.1 NA NA NA NA rs2906646 0.49 0.49 0.505 0.500998 0.505 0.3194 0.3746 0.6362 0.591 0.5 0.35 0.46 0.64 0.5055 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.164797 NA NA 0.504538 0.589399 NA 0.493 NA 2.8182953 1378 11 108225483 108225483 C T intronic ATM NA NA NA intronic ENSG00000149311,ENSG00000166323 NA NA NA NA NA 11q22.3 NA NA NA NA rs664982 0.52 0.52 0.501 0.535144 0.6193 0.4345 0.6513 0.3812 0.6779 0.61 0.44 0.64 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 -0.383967 NA NA 0.562539 0.416185 NA 0.428 NA 2.818161 1378 17 40842084 40842084 G A intronic CNTNAP1 NA NA NA ncRNA_intronic ENSG00000267765 NA NA NA NA NA 17q21.2 NA NA NA NA rs3760386 0.51 0.51 0.521 0.553315 0.4851 0.4702 0.4135 0.6649 0.6575 0.48 0.45 0.4 0.7 0.5219 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 -0.612694 NA NA 0.508372 0.615751 NA 0.572 NA 2.8179613 1378 4 173803914 173803914 T C intronic GALNTL6 NA NA NA intronic ENSG00000174473 NA NA NA NA NA 4q34.1 NA NA NA NA rs6810619 0.3 0.3 0.286 0.282548 0.4066 0.1448 0.3357 0.2602 0.2894 0.39 0.17 0.35 0.26 0.3475 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.366842 4.366842 NA 0.428023 0.287335 NA 0.435 NA 2.817877 1378 12 104645405 104645405 T C exonic TXNRD1 NA unknown UNKNOWN exonic ENSG00000198431 NA synonymous SNV ENSG00000198431:ENST00000429002:exon2:c.T192C:p.D64D NA NA 12q23.3 NA NA NA NA rs7975161 0.85 0.85 0.861 0.845447 0.84 0.869 0.7767 0.8616 0.8538 0.84 0.9 0.78 0.86 0.8335 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 -0.050591 NA NA 0.84223 0.864475 NA 0.913 NA 2.8176033 1378 11 34154641 34154641 C T exonic NAT10 NA synonymous SNV NAT10:NM_001144030:exon14:c.C1470T:p.P490P,NAT10:NM_024662:exon16:c.C1686T:p.P562P exonic ENSG00000135372 NA synonymous SNV ENSG00000135372:ENST00000531159:exon14:c.C1470T:p.P490P,ENSG00000135372:ENST00000257829:exon16:c.C1686T:p.P562P NA NA 11p13 NA NA NA NA rs2957518 0.88 0.88 0.857 0.860423 0.9592 1 0.9553 0.5696 0.9407 0.96 1 0.96 0.55 0.9337 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.312187 NA NA 0.956957 0.637375 NA 0.855 NA 2.8168096 1378 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 1378 15 81176721 81176721 C G intronic KIAA1199 NA NA NA intronic ENSG00000103888 NA NA NA NA NA 15q25.1 NA NA NA NA rs35343835 0.21 0.21 0.199 0.184505 0.4205 0.0605 0.1916 0.0779 0.2086 0.43 0.04 0.2 0.07 0.3266 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4441 NA NA 0.436512 0.132547 NA 0.203 NA 2.816388 1378 3 151545318 151545318 A T intronic AADAC NA NA NA ncRNA_intronic ENSG00000242908 NA NA NA NA NA 3q25.1 NA NA NA NA rs2410837 NA NA NA 0.734425 0.7674 0.5774 0.7522 0.7731 0.7975 NA NA NA NA 0.7497 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 0.651552 NA NA NA NA NA 0.667 NA 2.8162333 1378 1 19638309 19638309 A G intronic AKR7A2 NA NA NA intronic ENSG00000053371 NA NA NA NA NA 1p36.13 NA Name=HA-E2F1,Ini1 NA NA rs2227295 0.7 0.7 0.712 0.710064 0.7217 0.5714 0.6124 0.8419 0.7321 0.73 0.57 0.65 0.85 0.7234 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 0.679463 NA NA 0.738878 0.816388 NA 0.572 NA 2.816022 1378 5 52368922 52368922 T A intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs984966 0.36 0.36 0.304 0.33726 0.4026 0.2857 0.4409 0.2784 0.3292 0.41 0.33 0.44 0.26 0.384 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.170036 NA NA 0.397418 0.304861 NA 0.435 NA 2.815982 1378 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 1378 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 1378 17 38990834 38990834 G C exonic TMEM99 NA synonymous SNV TMEM99:NM_001195386:exon3:c.G66C:p.V22V,TMEM99:NM_001195387:exon3:c.G66C:p.V22V,TMEM99:NM_145274:exon3:c.G66C:p.V22V exonic ENSG00000167920 NA synonymous SNV ENSG00000167920:ENST00000301665:exon3:c.G66C:p.V22V,ENSG00000167920:ENST00000436612:exon3:c.G66C:p.V22V NA NA 17q21.2 NA NA NA NA rs2240078 0.89 0.89 0.902 0.901558 0.9583 0.8056 0.7954 0.9554 0.9448 0.96 0.79 0.83 0.93 0.9263 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 -0.728545 NA NA 0.966375 0.967897 NA 0.92 NA 2.8156916 1378 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 1378 6 42644623 42644623 A G intronic UBR2 NA NA NA intronic ENSG00000024048 NA NA NA NA NA 6p21.1 NA NA NA NA rs2038261 0.44 0.44 0.434 0.434505 0.3857 0.4385 0.389 0.5023 0.4213 0.41 0.45 0.42 0.48 0.4071 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.470227 NA NA 0.391835 0.484113 NA 0.399 NA 2.815365 1378 10 27692099 27692099 A G intronic PTCHD3 NA NA NA intronic ENSG00000182077 NA NA NA NA NA 10p12.1 NA NA NA NA rs2484179 0.43 0.43 0.399 0.432508 0.3907 0.5427 0.4121 0.4236 0.3885 0.38 0.5 0.42 0.41 0.401 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.392944 NA NA 0.393023 0.425556 NA 0.399 NA 2.815277 1378 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 1379 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 1379 3 108788461 108788461 T C intronic MORC1 NA NA NA intronic ENSG00000114487 NA NA NA NA NA 3q13.13 NA NA NA NA rs2305238 0.4 0.4 0.358 0.397764 0.3817 0.6954 0.402 0.0787 0.5358 0.37 0.73 0.36 0.07 0.4129 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 0.074778 NA NA 0.39093 0.125511 NA 0.413 NA 2.81447 1379 17 18042276 18042276 A C intronic MYO15A NA NA NA intronic ENSG00000091536 NA NA NA NA NA 17p11.2 Score=724;Name=V$NRSF_01 NA NA NA rs2075658 0.72 0.72 0.704 0.685703 0.7247 0.5982 0.7666 0.8079 0.5133 0.73 0.61 0.74 0.82 0.7092 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 0.864551 NA NA 0.751781 0.793556 NA 0.761 NA 2.814319 1379 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 1379 19 44050195 44050195 C T intronic XRCC1 NA NA NA intronic ENSG00000073050 NA NA NA NA NA 19q13.31 NA NA NA NA rs25479 0.29 0.29 0.302 0.289337 0.4066 0.1151 0.2147 0.326 0.3517 0.41 0.11 0.25 0.37 0.3636 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.787256 1.787256 NA 0.416279 0.345211 NA 0.312 NA 2.813521 1379 5 52355854 52355854 T C intronic ITGA2 NA NA NA intronic ENSG00000164171 NA NA NA NA NA 5q11.2 NA NA NA NA rs2303127 0.36 0.36 0.343 0.33726 0.4036 0.2867 0.4424 0.2761 0.3292 0.41 0.33 0.45 0.26 0.3835 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.010594 NA NA 0.399419 0.297549 NA 0.435 NA 2.813481 1379 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 1379 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=TAF1,Pol2-4H8,HEY1,Pol2,Pol2(phosphoS2),TAF7_(SQ-8),CTCF 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 1379 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 1379 12 70072479 70072479 C G intronic BEST3 NA NA NA intronic ENSG00000127325 NA NA NA NA NA 12q15 NA NA NA NA rs3741755 0.31 0.31 0.29 0.339457 0.4036 0.2917 0.2911 0.2163 0.5235 0.4 0.26 0.31 0.21 0.3955 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.852125 NA NA 0.388794 0.247755 NA 0.406 NA 2.812106 1379 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 1379 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 1379 17 42454463 42454463 G C intronic ITGA2B NA NA NA intronic ENSG00000005961 NA NA NA NA NA 17q21.31 NA NA NA NA rs850730 0.4 0.4 0.384 0.397364 0.3887 0.4563 0.366 0.4221 0.3344 0.4 0.42 0.36 0.42 0.4255 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.143179 NA NA 0.37468 0.384196 NA 0.529 NA 2.81112 1379 9 115936903 115936903 A G intronic FKBP15 NA NA NA intronic ENSG00000119321 NA NA NA NA NA 9q32 NA NA NA NA rs3827673 0.46 0.46 0.45 0.449081 0.3827 0.751 0.4697 0.2277 0.4908 0.37 0.76 0.46 0.27 0.4195 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 0.622803 NA NA 0.386896 0.262707 NA 0.391 NA 2.810904 1379 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 1379 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 1379 1 17313157 17313157 G A intronic ATP13A2 NA NA NA ncRNA_intronic ENSG00000226526 NA NA NA NA NA 1p36.13 NA NA NA NA rs2076605 0.36 0.36 0.362 0.346845 0.508 0.2599 0.4582 0.1679 0.4335 0.51 0.29 0.44 0.15 0.4958 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418508 NA NA 0.519532 0.234418 NA 0.435 NA 2.8100013 1379 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 1379 8 87235150 87235150 C T intronic SLC7A13 NA NA NA intronic ENSG00000164893 NA NA NA NA NA 8q21.3 NA NA NA NA rs2976190 0.48 0.48 0.455 0.52516 0.3708 0.498 0.5245 0.5961 0.6166 0.39 0.46 0.5 0.62 0.4476 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106894 NA NA 0.372791 0.560826 NA 0.413 NA 2.808809 1379 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 1379 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 1379 17 26851501 26851501 G A intronic FOXN1 NA NA NA intronic ENSG00000109101,ENSG00000258472 NA NA NA NA NA 17q11.2 NA Name=CEBPB NA NA rs614434 0.68 0.68 0.675 0.650759 0.7465 0.8909 0.7752 0.3457 0.6288 0.75 0.86 0.73 0.34 0.7149 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 1.433646 1.433646 NA 0.730581 0.434408 NA 0.703 NA 2.808019 1379 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 1379 7 2966445 2966445 T G intronic CARD11 NA NA NA intronic ENSG00000198286 NA NA NA NA NA 7p22.2 NA NA NA NA rs1182136 0.53 0.53 NA 0.560503 0.6213 0.372 0.6916 0.6006 0.545 0.62 0.3 0.69 0.53 0.5711 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 -0.583329 NA NA NA NA NA 0.449 NA 2.8076 1379 14 22600863 22600863 G A intergenic OR4E2,DAD1 dist=466625;dist=432944 NA NA exonic ENSG00000211808 NA nonsynonymous SNV ENSG00000211808:ENST00000390456:exon2:c.G208A:p.E70K NA NA 14q11.2 NA NA NA NA rs3811291 0.63 0.63 0.644 0.602436 0.6819 0.7103 0.6427 0.4554 0.5798 0.68 0.71 0.64 0.47 0.6572 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.556983 1.556983 0.2 0.686998 0.515152 NA 0.659 NA 2.8072354 1379 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 1379 7 2297006 2297006 A G exonic SNX8 NA synonymous SNV SNX8:NM_013321:exon9:c.T1128C:p.I376I exonic ENSG00000106266 NA synonymous SNV ENSG00000106266:ENST00000222990:exon9:c.T1128C:p.I376I NA NA 7p22.3 NA NA NA NA rs6888 0.91 0.91 0.93 0.90615 0.9662 0.7996 0.8991 0.9728 0.8691 0.97 0.8 0.9 0.98 0.9306 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 0.830579 NA NA 0.963256 0.973612 NA 0.935 NA 2.8066106 1379 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 1379 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 1379 7 107746253 107746253 A G intronic LAMB4 NA NA NA intronic ENSG00000091128 NA NA NA NA NA 7q31.1 NA NA NA NA rs420753 0.37 0.37 0.331 0.352835 0.3946 0.4008 0.3977 0.2322 0.3916 0.4 0.41 0.42 0.22 0.3887 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335576 NA NA 0.410349 0.26759 NA 0.471 NA 2.806351 1379 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 1379 15 40949526 40949526 C T intronic CASC5 NA NA NA intronic ENSG00000137812 NA NA NA NA NA 15q15.1 NA NA NA NA rs2412544 0.35 0.35 0.338 0.350439 0.3986 0.254 0.3285 0.3427 0.4264 0.42 0.25 0.34 0.35 0.392 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.636858 NA NA 0.403582 0.365874 ID=COSN164913;OCCURENCE=1(NS) 0.377 NA 2.805818 1379 17 3921307 3921307 C G intronic ZZEF1 NA NA NA intronic ENSG00000074755 NA NA NA NA NA 17p13.2 NA NA NA NA rs2247194 0.49 0.49 0.519 0.508586 0.3887 0.3244 0.4942 0.8132 0.4202 0.38 0.34 0.51 0.82 0.4312 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 -1.071735 NA NA 0.374767 0.759873 NA 0.514 NA 2.805333 1379 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 1380 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 1380 17 18046058 18046058 A C intronic MYO15A NA NA NA intronic ENSG00000091536 NA NA NA NA NA 17p11.2 NA NA NA NA rs854778 0.72 0.72 0.723 0.684305 0.7276 0.6012 0.7651 0.8101 0.498 0.74 0.61 0.74 0.82 0.7131 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 0.549737 NA NA 0.754794 0.798698 NA 0.754 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038974.1;CLNDSDB=.;CLNDSDBID=. 2.804506 1380 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 1380 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 1380 5 1076245 1076245 G A intronic SLC12A7 NA NA NA intronic ENSG00000113504 NA NA NA NA NA 5p15.33 NA NA NA NA rs11951420 0.26 0.26 0.229 0.222644 0.3936 0.2431 0.2565 0.0182 0.2781 0.41 0.24 0.29 0.02 0.3843 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.67036 NA NA 0.41851 0.084777 NA 0.181 NA 2.80359 1380 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 1380 4 122749436 122749436 G T intronic BBS7 NA NA NA intronic ENSG00000138686 NA NA NA NA NA 4q27 NA Name=GATA-1 NA NA rs2706793 0.81 0.81 0.8 0.812101 0.7107 0.8611 0.8141 0.9047 0.7393 0.73 0.86 0.8 0.9 0.7648 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 -0.299298 NA NA 0.721912 0.879827 NA 0.783 NA 2.802588 1380 9 71990645 71990645 C T intronic FAM189A2 NA NA NA intronic ENSG00000135063 NA NA NA NA NA 9q21.11 NA NA NA NA rs4351475 0.33 0.33 0.297 0.313099 0.4076 0.3611 0.4496 0.0749 0.3916 0.42 0.39 0.4 0.09 0.3949 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.282341 NA NA 0.395233 0.129823 NA 0.319 NA 2.802267 1380 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 1380 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 1380 8 143995761 143995761 C T exonic CYP11B2 NA synonymous SNV CYP11B2:NM_000498:exon5:c.G873A:p.A291A exonic ENSG00000179142 NA synonymous SNV ENSG00000179142:ENST00000323110:exon5:c.G873A:p.A291A NA NA 8q24.3 NA NA NA NA rs4536 0.84 0.84 0.863 0.823482 0.9771 0.4752 0.8963 0.9425 0.8119 0.98 0.5 0.91 0.94 0.9094 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 -0.256226 NA NA 0.979302 0.949841 NA 0.906 NA 2.8008646 1380 15 89804111 89804111 G A intronic FANCI NA NA NA intronic ENSG00000140525 NA NA NA NA NA 15q26.1 NA NA NA NA rs16942918 0.45 0.45 0.472 0.449281 0.3936 0.3214 0.4049 0.6989 0.3323 0.41 0.32 0.42 0.7 0.4164 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 -0.648361 NA NA 0.389277 0.644318 NA 0.478 NA 2.800723 1380 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 1380 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 1380 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 1380 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 1380 11 20639479 20639479 G A intronic SLC6A5 NA NA NA intronic ENSG00000165970 NA NA NA NA NA 11p15.1 NA NA NA NA rs11827415 0.36 0.36 0.383 0.395966 0.4145 0.2986 0.4035 0.3578 0.5235 0.4 0.29 0.38 0.35 0.4022 0.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.31426 NA NA 0.383256 0.38493 NA 0.326 NA 2.800044 1380 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 1380 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 1380 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 1380 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 1380 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 1380 2 55582684 55582684 A T intronic CCDC88A NA NA NA intronic ENSG00000115355 NA NA NA NA NA 2p16.1 NA NA NA NA rs1437394 0.48 0.48 0.447 0.480631 0.3529 0.8532 0.3631 0.3805 0.4468 0.34 0.85 0.33 0.37 0.4258 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 2.281772 2.281772 NA 0.422791 0.393327 NA 0.413 NA 2.798509 1380 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 1380 13 50102810 50102810 G A UTR3 PHF11 NM_001040443:c.*9G>A,NM_001040444:c.*9G>A NA NA UTR3 ENSG00000136147 ENST00000378319:c.*9G>A,ENST00000426879:c.*9G>A,ENST00000357596:c.*9G>A,ENST00000465045:c.*372G>A,ENST00000488958:c.*9G>A NA NA NA NA 13q14.2 NA NA NA NA rs1046295 0.48 0.48 0.486 0.419529 0.5179 0.4524 0.5432 0.3449 0.2975 0.53 0.48 0.52 0.35 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 -0.34376 NA NA 0.531279 0.366092 NA 0.348 NA 2.7978544 1380 11 73669334 73669334 A C intronic DNAJB13 NA NA NA intronic ENSG00000187726 NA NA NA NA NA 11q13.4 NA NA NA NA rs10793069 0.46 0.46 0.464 0.460463 0.3976 0.4425 0.3357 0.5582 0.5 0.41 0.48 0.39 0.58 0.4244 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.925276 NA NA 0.38062 0.530227 NA 0.493 NA 2.79738 1380 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 1380 10 105201577 105201577 C T intronic PDCD11 NA NA NA intronic ENSG00000148843 NA NA NA NA NA 10q24.33 NA NA NA NA rs2281860 0.38 0.38 0.406 0.423123 0.4165 0.3552 0.3963 0.4054 0.5429 0.41 0.34 0.38 0.4 0.4018 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.484382 1.484382 NA 0.384535 0.409669 NA 0.355 NA 2.797165 1380 13 52602919 52602919 A C UTR5;UTR3 UTP14C;ALG11 NM_021645:c.-22A>C;NM_001004127:c.*193A>C NA NA UTR5;UTR3 ENSG00000253797;ENSG00000253710 ENST00000521776:c.-22A>C;ENST00000523764:c.*398A>C,ENST00000521508:c.*193A>C NA NA NA NA 13q14.3 NA NA NA NA rs3825528 0.41 0.41 0.386 0.368411 0.5586 0.5327 0.3876 0.0946 0.3599 0.54 0.51 0.43 0.1 0.449 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.56759 NA NA 0.528611 0.159782 NA 0.283 NA 2.7971224 1380 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 1380 13 50108252 50108252 T C UTR3 RCBTB1 NM_018191:c.*6A>G NA NA UTR3 ENSG00000136144 ENST00000258646:c.*6A>G,ENST00000378302:c.*6A>G NA NA NA NA 13q14.2 NA NA NA NA rs7317982 0.48 0.48 0.465 0.429513 0.5189 0.4544 0.5476 0.3759 0.3006 0.53 0.49 0.52 0.37 0.4856 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.01818 NA NA 0.53186 0.389015 NA 0.326 NA 2.7969734 1380 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 1380 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 1380 X 46949403 46949403 C T intronic RGN NA NA NA intronic ENSG00000130988 NA NA NA NA NA Xp11.23 NA NA NA NA rs6611330 0.58 0.58 NA NA NA NA NA NA NA 0.62 0.77 0.41 0.43 0.5979 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 0.088394 NA NA 0.606272 0.529857 ID=COSN168733;OCCURENCE=1(large_intestine) 0.442 NA 2.795828 1380 4 104079424 104079424 C T intronic CENPE NA NA NA intronic ENSG00000138778 NA NA NA NA NA 4q24 NA NA NA NA rs2251322 0.43 0.43 0.433 0.45008 0.4066 0.3016 0.353 0.674 0.4141 0.42 0.27 0.37 0.68 0.4072 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.781803 NA NA 0.390446 0.581855 ID=COSN167287;OCCURENCE=1(large_intestine) 0.507 NA 2.795754 1380 8 11629129 11629129 C G intronic NEIL2 NA NA NA intronic ENSG00000154328 NA NA NA NA NA 8p23.1 NA NA NA NA rs804268 0.36 0.36 0.302 0.373003 0.3748 0.5804 0.415 0.0877 0.5133 0.37 0.54 0.43 0.1 0.4254 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066475 NA NA 0.404302 0.13754 NA 0.406 NA 2.795498 1380 2 172398311 172398311 T C intronic CYBRD1 NA NA NA intronic ENSG00000071967 NA NA NA NA NA 2q31.1 NA Name=TAL1_(SC-12984) NA NA rs7586144 0.79 0.79 0.783 0.804313 0.7256 0.9038 0.7118 0.8449 0.7935 0.75 0.88 0.73 0.79 0.7535 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 -0.575459 NA NA 0.725465 0.829778 NA 0.841 NA 2.795435 1381 19 44663805 44663805 G A UTR3 ZNF234 NM_001144824:c.*1533G>A,NM_006630:c.*1533G>A NA NA downstream ENSG00000263002 NA NA NA NA NA 19q13.31 NA NA NA NA rs62117771 0.54 0.54 0.548 0.56869 0.3668 0.4931 0.4726 0.9418 0.4182 0.37 0.49 0.5 0.9 0.4624 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 -0.631938 NA NA 0.375944 0.825515 NA 0.601 NA 2.794856 1381 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 1381 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 1381 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 1381 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 1381 2 105709023 105709023 T C exonic MRPS9 NA synonymous SNV MRPS9:NM_182640:exon8:c.T816C:p.S272S exonic ENSG00000135972 NA synonymous SNV ENSG00000135972:ENST00000258455:exon8:c.T816C:p.S272S NA NA 2q12.1 NA NA NA NA rs6543282 0.98 0.98 0.975 0.983826 0.9463 0.999 0.9726 0.9985 0.9949 0.95 1 0.97 1 0.9707 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.557397 NA NA 0.956395 0.991829 NA 0.899 NA 2.7932716 1381 6 143792675 143792675 T C intronic PEX3 NA NA NA intronic ENSG00000034693 NA NA NA NA NA 6q24.2 NA NA NA NA rs22908 0.37 0.37 0.339 0.321685 0.4245 0.3165 0.4308 0.2519 0.2382 0.42 0.33 0.45 0.25 0.3745 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.121958 NA NA 0.407843 0.277929 NA 0.391 NA 2.793157 1381 X 12838934 12838934 A G intronic PRPS2 NA NA NA intronic ENSG00000101911 NA NA NA NA NA Xp22.2 NA NA NA NA rs917580 0.52 0.52 0.54293 NA NA NA NA NA NA 0.61 0.44 0.59 0.41 0.5721 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.404735 NA NA 0.634958 0.471969 NA 0.37 NA 2.792942 1381 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 1381 3 29804487 29804487 A T intronic RBMS3 NA NA NA intronic ENSG00000144642 NA NA NA NA NA 3p24.1 NA NA NA NA rs1371839 0.41 0.41 0.413 0.449681 0.3907 0.3095 0.3732 0.6293 0.4663 0.39 0.24 0.41 0.64 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 3.127217 3.127217 NA 0.40649 0.577621 NA 0.638 NA 2.79221 1381 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 1381 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 1381 6 170892100 170892100 T C UTR3 PDCD2 NM_001199463:c.*16A>G,NM_144781:c.*16A>G NA NA UTR3 ENSG00000071994 ENST00000453163:c.*16A>G,ENST00000443345:c.*16A>G,ENST00000544755:c.*279A>G NA NA NA NA 6q27 NA NA NA NA rs9295417 0.61 0.61 0.614 0.602236 0.5109 0.7907 0.4885 0.6687 0.4928 0.5 0.8 0.54 0.62 0.5331 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 0.504907 NA NA 0.497674 0.622333 NA 0.623 NA 2.7916594 1381 16 66885652 66885652 A G intronic CA7 NA NA NA ncRNA_intronic ENSG00000258122 NA NA NA NA NA 16q22.1 NA NA NA NA rs151460 0.63 0.63 0.638 0.624601 0.5119 0.6438 0.536 0.851 0.4775 0.5 0.66 0.55 0.86 0.5407 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 0.182651 NA NA 0.489535 0.7825 NA 0.674 NA 2.7911983 1381 8 6690215 6690215 G C intronic XKR5 NA NA NA ncRNA_intronic ENSG00000186530 NA NA NA NA NA 8p23.1 NA NA NA NA rs2978901 0.51 0.51 0.513 0.532748 0.5229 0.5486 0.4611 0.4614 0.6738 0.53 0.53 0.48 0.48 0.5213 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.839082 NA NA 0.497981 0.458874 NA 0.572 NA 2.7911523 1381 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 1381 8 66691934 66691934 T A intronic PDE7A NA NA NA intronic ENSG00000205268 NA NA NA NA NA 8q13.1 NA NA NA NA rs972362 0.42 0.42 0.452 0.423522 0.4324 0.0972 0.3948 0.8253 0.228 0.41 0.1 0.41 0.81 0.379 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 0.933898 NA NA 0.39814 0.756468 NA 0.558 NA 2.79046 1381 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 1381 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 1381 1 147131501 147131501 A T intronic ACP6 NA NA NA intronic ENSG00000162836 NA NA NA NA NA 1q21.2 NA NA NA NA rs34675044 0.29 0.29 0.263 0.256989 0.4334 0.1151 0.4006 0.1672 0.2413 0.44 0.1 0.44 0.16 0.3621 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.316091 3.316091 NA 0.415 0.215388 NA 0.406 NA 2.7895 1381 19 10090649 10090649 A G intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs11879687 0.37 0.37 0.334 0.353235 0.4155 0.4315 0.4467 0.1702 0.3896 0.42 0.44 0.43 0.17 0.4006 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.754499 1.754499 NA 0.394419 0.221062 NA 0.29 NA 2.789481 1381 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 1381 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 1381 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 1381 10 129249693 129249693 G A UTR3 DOCK1 NM_001380:c.*2G>A NA NA UTR3 ENSG00000150760 ENST00000280333:c.*2G>A NA NA NA NA 10q26.2 NA NA NA NA rs2229605 0.44 0.44 0.376 0.430911 0.5169 0.4554 0.5821 0.205 0.5153 0.52 0.43 0.58 0.21 0.5032 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.497526 NA NA 0.524142 0.238502 NA 0.42 NA 2.7890914 1381 10 6533625 6533625 T A intronic PRKCQ NA NA NA intronic ENSG00000065675 NA NA NA NA NA 10p15.1 NA NA NA NA rs527611 0.32 0.32 0.289 0.340855 0.3986 0.4117 0.4467 0.0408 0.5389 0.39 0.41 0.44 0.04 0.3994 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.950633 NA NA 0.413256 0.100999 NA 0.239 NA 2.788744 1381 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 1381 11 63967770 63967770 C G intronic STIP1 NA NA NA intronic ENSG00000168439 NA NA NA NA NA 11q13.1 NA NA NA NA rs11231722 0.38 0.38 0.352 0.385583 0.3857 0.3105 0.5807 0.3185 0.4151 0.39 0.31 0.56 0.3 0.4093 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.732137 NA NA 0.417268 0.348478 NA 0.377 NA 2.787732 1381 4 77290561 77290561 G A intronic CCDC158 NA NA NA intronic ENSG00000163749 NA NA NA NA NA 4q21.1 NA NA NA NA rs72657825 0.24 0.24 0.22 0.188099 0.4334 0.0784 0.3602 0.025 0.1472 0.43 0.1 0.33 0.02 0.343 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.172808 NA NA 0.437228 0.084439 NA 0.232 NA 2.786372 1381 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 1381 10 12200125 12200125 C T intronic SEC61A2 NA NA NA intronic ENSG00000065665 NA NA NA NA NA 10p13 NA NA NA NA rs4750175 0.44 0.44 0.391 0.422724 0.4036 0.5258 0.4986 0.4062 0.3047 0.42 0.52 0.46 0.37 0.4116 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.437404 NA NA 0.39879 0.389873 NA 0.304 NA 2.78601 1381 1 204954993 204954993 A G intronic NFASC NA NA NA intronic ENSG00000163531 NA NA NA NA NA 1q32.1 NA NA NA NA rs2278795 0.36 0.36 0.358 0.374201 0.3837 0.2996 0.2983 0.4637 0.3742 0.38 0.25 0.35 0.48 0.4179 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.195152 NA NA 0.412538 0.457993 NA 0.514 NA 2.785862 1381 1 34329897 34329897 T C exonic HMGB4 NA synonymous SNV HMGB4:NM_145205:exon2:c.T105C:p.Y35Y exonic ENSG00000176256 NA synonymous SNV ENSG00000176256:ENST00000519684:exon2:c.T105C:p.Y35Y,ENSG00000176256:ENST00000522796:exon4:c.T105C:p.Y35Y NA NA 1p35.1 NA NA NA NA rs911218 0.98 0.98 0.977 0.988219 0.9553 1 0.987 0.9985 0.9969 0.96 1 0.98 1 0.9713 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.432668 NA NA 0.954535 0.990921 NA 1 NA 2.7855316 1381 4 84380955 84380955 G T intronic MRPS18C NA NA NA intronic ENSG00000163319 NA NA NA NA NA 4q21.23 NA NA NA NA rs12505955 0.42 0.42 0.375 0.41893 0.3787 0.6756 0.5259 0.1225 0.5204 0.4 0.65 0.5 0.15 0.4311 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.83098 NA NA 0.404962 0.167726 NA 0.239 NA 2.785238 1381 9 139872048 139872048 A G exonic PTGDS NA synonymous SNV PTGDS:NM_000954:exon1:c.A18G:p.T6T exonic ENSG00000107317 NA synonymous SNV ENSG00000107317:ENST00000224167:exon1:c.A18G:p.T6T,ENSG00000107317:ENST00000371623:exon1:c.A18G:p.T6T,ENSG00000107317:ENST00000371625:exon1:c.A18G:p.T6T,ENSG00000107317:ENST00000457950:exon1:c.A18G:p.T6T,ENSG00000107317:ENST00000471521:exon1:c.A18G:p.T6T NA NA 9q34.3 NA NA NA NA rs4880179 0.95 0.95 0.943 0.954872 0.9533 1 0.964 0.8956 0.9836 0.95 1 0.96 0.9 0.9667 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.823533 NA NA 0.961494 0.899909 NA 0.899 NA 2.7851726 1382 16 2337993 2337993 G A intronic ABCA3 NA NA NA intronic ENSG00000167972 NA NA NA NA NA 16p13.3 NA NA NA NA rs313909 0.43 0.43 0.468 0.474241 0.4095 0.4742 0.3602 0.5431 0.5286 0.4 0.48 0.33 0.5 0.419 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.737778 NA NA 0.386535 0.469585 NA 0.442 NA 2.784965 1382 19 54395098 54395098 G T intronic PRKCG NA NA NA intronic ENSG00000126583 NA NA NA NA NA 19q13.42 NA NA NA NA rs3745405 0.32 0.32 0.296 0.333666 0.4135 0.2927 0.4121 0.1944 0.4264 0.41 0.29 0.4 0.18 0.3967 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699134 NA NA 0.404884 0.247617 NA 0.355 NA 2.784916 1382 11 128786294 128786294 G A intronic KCNJ5 NA NA NA intronic ENSG00000120457 NA NA NA NA NA 11q24.3 NA Name=CEBPB NA NA rs4937391 0.72 0.72 0.745 0.735823 0.7535 0.6538 0.6945 0.7821 0.7689 0.75 0.65 0.71 0.75 0.7346 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 -0.368291 NA NA 0.72795 0.786688 NA 0.674 NA 2.78395 1382 11 1253401 1253401 C G intronic MUC5B NA NA NA intronic ENSG00000117983 NA NA NA NA NA 11p15.5 NA NA NA NA rs12421917 0.46 0.46 0.413 0.464457 0.3767 0.6042 0.4885 0.4425 0.4233 0.37 0.6 0.45 0.44 0.4568 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.349113 1.349113 NA 0.382777 0.427038 NA 0.478 NA 2.783723 1382 19 4099187 4099187 T C intronic MAP2K2 NA NA NA intronic ENSG00000126934 NA NA NA NA NA 19p13.3 NA NA NA NA rs350911 0.8 0.8 0.745 0.773562 0.7097 0.9216 0.8357 0.7345 0.6953 0.72 0.94 0.84 0.72 0.7718 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 0.882986 NA NA 0.734973 0.762172 NA 0.536 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039497.1|RCV000126678.1;CLNDSDB=.|.;CLNDSDBID=.|. 2.783527 1382 3 52778347 52778347 T C intronic NEK4 NA NA NA intronic ENSG00000114904 NA NA NA NA NA 3p21.1 NA NA NA NA rs2268026 0.39 0.39 0.374 0.332468 0.4205 0.4296 0.4611 0.1475 0.3006 0.43 0.49 0.48 0.16 0.3879 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.645858 2.645858 NA 0.408488 0.175897 NA 0.225 NA 2.783112 1382 1 156875092 156875092 G A intronic PEAR1 NA NA NA intronic ENSG00000187800 NA NA NA Score=251;Name=lod=14 NA 1q23.1 NA NA NA NA rs4661074 0.47 0.47 0.421 0.394968 0.7962 0.2034 0.5735 0.1369 0.4018 0.81 0.2 0.65 0.12 0.628 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 1.656346 1.656346 NA 0.793372 0.240127 NA 0.449 NA 2.782428 1382 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 1382 11 65561468 65561468 C T intronic OVOL1 NA NA NA UTR5 ENSG00000172818 ENST00000532448:c.-120C>T NA NA NA NA 11q13.1 NA NA NA NA rs644740 0.44 0.44 0.417 0.449281 0.4583 0.3919 0.5821 0.2965 0.6115 0.45 0.44 0.56 0.33 0.4705 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.641387 NA NA 0.45555 0.317356 NA 0.493 NA 2.7823167 1382 16 2305539 2305539 A G intronic RNPS1 NA NA NA intronic ENSG00000167970,ENSG00000205937 NA NA NA NA NA 16p13.3 NA NA NA NA rs155243 0.42 0.42 0.359 0.397764 0.4056 0.4643 0.5115 0.2753 0.4059 0.41 0.43 0.52 0.34 0.4199 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.816936 NA NA 0.392533 0.304368 NA 0.37 NA 2.781967 1382 2 27839107 27839107 T C intronic ZNF512 NA NA NA ncRNA_intronic ENSG00000259080 NA NA NA NA NA 2p23.3 NA NA NA NA rs6737921 0.66 0.66 0.657 0.652756 0.497 0.8452 0.6873 0.7148 0.5061 0.49 0.86 0.63 0.72 0.5599 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 4.070308 4.070308 NA 0.494651 0.673173 NA 0.558 NA 2.7817823 1382 2 20823612 20823612 A G intronic HS1BP3 NA NA NA UTR3 ENSG00000118960 ENST00000445102:c.*7T>C NA NA NA NA 2p24.1 NA NA Name=3 NA rs13030108 0.81 0.81 0.785 0.794129 0.7853 0.9058 0.8372 0.68 0.8119 0.81 0.92 0.81 0.67 0.8113 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 1.251685 1.251685 NA 0.788506 0.664993 NA 0.761 NA 2.7815607 1382 3 52852060 52852060 T C intronic ITIH4 NA NA NA intronic ENSG00000055955,ENSG00000243696 NA NA NA NA NA 3p21.1 NA NA NA NA rs2245538 0.5 0.5 0.491 0.507788 0.4046 0.37 0.5576 0.7042 0.455 0.41 0.43 0.57 0.66 0.4311 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 0.126552 NA NA 0.382791 0.652973 NA 0.493 NA 2.781509 1382 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 1382 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 1382 4 184201909 184201909 G A intronic WWC2 NA NA NA intronic ENSG00000151718 NA NA NA NA NA 4q35.1 NA NA NA NA rs11132173 0.35 0.35 0.338 0.324481 0.3857 0.253 0.4784 0.2859 0.2781 0.39 0.26 0.46 0.31 0.4313 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.343439 NA NA 0.40186 0.315025 NA 0.319 NA 2.78114 1382 17 18139896 18139896 G T intronic LLGL1 NA NA NA intronic ENSG00000131899 NA NA NA NA NA 17p11.2 NA NA NA NA rs2746028 0.44 0.44 0.433 0.467452 0.3986 0.5982 0.4193 0.2897 0.6779 0.39 0.62 0.42 0.3 0.4318 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.743173 NA NA 0.388953 0.29369 NA 0.442 NA 2.780647 1382 6 4119516 4119516 A G intronic C6orf201,ECI2 NA NA NA intronic ENSG00000185689,ENSG00000198721 NA NA NA NA NA 6p25.2 NA NA NA NA rs2326408 0.5 0.5 0.514 0.494609 0.4155 0.3591 0.4395 0.8502 0.274 0.43 0.37 0.44 0.82 0.4121 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 0.212142 NA NA 0.392093 0.788243 NA 0.486 NA 2.780307 1382 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 1382 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 1382 9 78848554 78848554 G C intronic PCSK5 NA NA NA intronic ENSG00000099139 NA NA NA NA NA 9q21.13 NA NA NA NA rs7854396 0.52 0.52 0.481 0.488419 0.3877 0.748 0.562 0.4138 0.3732 0.42 0.76 0.54 0.4 0.4339 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 -0.089504 NA NA 0.399046 0.388128 NA 0.572 NA 2.779354 1382 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 1382 22 23503756 23503756 G A UTR3 RAB36 NM_004914:c.*5G>A NA NA UTR3 ENSG00000100228 ENST00000263116:c.*5G>A NA NA NA NA 22q11.23 NA NA NA NA rs737818 0.54 0.54 0.572 0.555112 0.5139 0.6429 0.4654 0.5257 0.6104 0.51 0.63 0.49 0.53 0.542 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.900804 NA NA 0.49814 0.544258 NA 0.572 NA 2.7792934 1382 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 1382 8 141582896 141582896 T C intronic AGO2 NA NA NA intronic ENSG00000123908 NA NA NA NA NA 8q24.3 NA NA NA NA rs13276958 0.24 0.24 0.222 0.218051 0.4493 0.0546 0.2406 0.1392 0.2393 0.44 0.05 0.29 0.13 0.3335 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272609 NA NA 0.438023 0.177939 NA 0.362 NA 2.779177 1382 3 52692359 52692359 C G intronic PBRM1 NA NA NA intronic ENSG00000163939 NA NA NA NA NA 3p21.1 NA NA NA NA rs2590846 0.39 0.39 0.373 0.319089 0.4205 0.4276 0.4611 0.1483 0.2331 0.43 0.49 0.48 0.16 0.3914 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371063 NA NA 0.408953 0.175068 NA 0.225 NA 2.779147 1382 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 1382 17 79173224 79173224 T C exonic AZI1 NA synonymous SNV AZI1:NM_001009811:exon10:c.A1149G:p.T383T,AZI1:NM_014984:exon10:c.A1149G:p.T383T exonic ENSG00000141577 NA synonymous SNV ENSG00000141577:ENST00000269392:exon10:c.A1149G:p.T383T,ENSG00000141577:ENST00000374782:exon10:c.A1149G:p.T383T,ENSG00000141577:ENST00000450824:exon10:c.A1149G:p.T383T,ENSG00000141577:ENST00000575907:exon10:c.A1149G:p.T383T NA NA 17q25.3 NA NA NA NA rs2725419 0.9 0.9 0.896 0.909345 0.9682 0.9157 0.9582 0.798 0.9581 0.96 0.92 0.95 0.76 0.9466 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 0.222438 NA NA 0.972875 0.810055 NA 0.935 NA 2.7789916 1382 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 1382 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 1382 4 167012381 167012381 G A exonic TLL1 NA synonymous SNV TLL1:NM_012464:exon19:c.G2544A:p.L848L exonic ENSG00000038295 NA synonymous SNV ENSG00000038295:ENST00000061240:exon19:c.G2544A:p.L848L,ENSG00000038295:ENST00000507499:exon20:c.G2613A:p.L871L NA NA 4q32.3 NA NA NA NA rs2654492 0.94 0.94 0.921 0.90615 0.9722 0.996 0.9467 0.7451 0.9346 0.97 1 0.95 0.79 0.951 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.271244 NA NA 0.965349 0.775079 NA 0.899 NA 2.7781176 1382 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 1382 5 72798724 72798724 T G intronic BTF3 NA NA NA intronic ENSG00000145741 NA NA NA NA NA 5q13.2 NA NA NA NA rs347233 0.3 0.3 0.265 0.291334 0.3996 0.2619 0.5288 0.0303 0.3947 0.4 0.27 0.45 0.05 0.4077 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.061912 NA NA 0.414777 0.084008 NA 0.319 NA 2.777923 1382 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 1382 6 29323259 29323259 G A exonic OR5V1 NA synonymous SNV OR5V1:NM_030876:exon1:c.C714T:p.F238F exonic ENSG00000243729 NA synonymous SNV ENSG00000243729:ENST00000543825:exon1:c.C714T:p.F238F,ENSG00000243729:ENST00000377154:exon4:c.C714T:p.F238F NA NA 6p22.1 NA NA NA NA rs3117438 0.96 0.96 0.965 0.957867 0.9483 1 0.9366 0.9153 0.9969 0.95 1 0.94 0.94 0.9736 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.111652 NA NA 0.966977 0.931457 NA 0.986 NA 2.7777896 1382 2 141298674 141298674 T C intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA NA NA 2q22.1 NA NA NA NA rs13013854 0.34 0.34 0.291 0.329473 0.4036 0.3542 0.3775 0.118 0.4796 0.41 0.37 0.41 0.13 0.3911 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.456713 NA NA 0.427558 0.195642 ID=COSM148947;OCCURENCE=1(stomach) 0.283 NA 2.777742 1382 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 1382 1 117602960 117602960 C A UTR5 TTF2 NM_003594:c.-9C>A NA NA UTR5 ENSG00000116830 ENST00000369466:c.-9C>A NA NA NA NA 1p13.1 NA Name=Pol2,HA-E2F1,NFKB,TAF1,Pol2-4H8,HEY1,ELF1_(SC-631),YY1_(C-20),IRF1,TBP,YY1,BRCA1_(C-1863),AP-2alpha NA NA rs2244501 0.77 0.77 0.74 0.732628 0.8757 0.9018 0.8631 0.3835 0.7904 0.87 0.88 0.88 0.4 0.8186 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 0.006987 NA NA 0.862093 0.470722 NA 0.775 NA 2.7769404 1382 21 22696837 22696837 C G intronic NCAM2 NA NA NA intronic ENSG00000154654 NA NA NA NA NA 21q21.1 NA Name=CTCF_(SC-5916),CTCF,Rad21 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 1382 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 1382 16 24135112 24135112 T C intronic PRKCB NA NA NA intronic ENSG00000166501 NA NA NA NA NA 16p12.2 NA NA NA NA rs1013316 0.52 0.52 0.531 0.508586 0.3767 0.8095 0.3271 0.4637 0.5235 0.37 0.84 0.35 0.49 0.4431 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 0.551049 NA NA 0.40407 0.449932 NA 0.478 NA 2.77613 1383 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 1383 12 58145156 58145156 C T intronic CDK4 NA NA NA intronic ENSG00000135446 NA NA NA NA NA 12q14.1 NA NA NA NA rs2270777 0.27 0.27 0.254 0.248003 0.4493 0.1776 0.3199 0.1324 0.2188 0.43 0.12 0.36 0.13 0.3392 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.212807 NA NA 0.436744 0.174308 NA 0.268 NA 2.774756 1383 2 187487160 187487160 G A intronic ITGAV NA NA NA intronic ENSG00000138448 NA NA NA Score=595;Name=lod=349 NA 2q32.1 NA NA NA NA rs9333288 0.76 0.76 0.759 0.76258 0.7346 0.8413 0.7349 0.767 0.7239 0.73 0.85 0.72 0.73 0.7458 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 2.045544 2.045544 NA 0.744884 0.782115 NA 0.775 NA 2.774716 1383 19 3548057 3548057 T C intronic MFSD12 NA NA NA ncRNA_intronic ENSG00000267436 NA NA NA NA NA 19p13.3 NA NA NA NA rs6510759 0.69 0.69 0.641 0.719848 0.4851 0.8234 0.6715 0.8843 0.6667 0.49 0.83 0.65 0.88 0.5964 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 -0.247383 NA NA 0.477362 0.807932 NA 0.355 NA 2.7744713 1383 4 145579907 145579907 G A intronic HHIP NA NA NA ncRNA_intronic ENSG00000248890 NA NA NA NA NA 4q31.21 NA NA NA NA rs6537301 0.55 0.55 0.527 0.599641 0.4901 0.4494 0.5965 0.6838 0.7556 0.48 0.45 0.6 0.75 0.5629 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 0.863452 NA NA 0.506163 0.651384 NA 0.674 NA 2.7741703 1383 1 248004884 248004884 T C exonic OR11L1 NA synonymous SNV OR11L1:NM_001001959:exon1:c.A315G:p.V105V exonic ENSG00000197591 NA synonymous SNV ENSG00000197591:ENST00000355784:exon1:c.A315G:p.V105V NA NA 1q44 NA NA NA NA rs1339845 0.96 0.96 0.962 0.95627 0.9592 1 0.951 0.8926 0.998 0.97 1 0.97 0.9 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 -1.272992 NA NA 0.964302 0.904675 NA 0.899 NA 2.7740646 1383 1 3645844 3645844 G A intronic TP73 NA NA NA intronic ENSG00000078900 NA NA NA NA NA 1p36.32 NA Name=E2F6_(H-50) NA NA rs2096224 0.59 0.59 0.581 0.539736 0.7853 0.4772 0.6153 0.4062 0.4785 0.79 0.45 0.63 0.42 0.6694 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 -0.367946 NA NA 0.77315 0.478212 NA 0.493 NA 2.77215 1383 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 1383 5 156899869 156899869 T C exonic NIPAL4 NA synonymous SNV NIPAL4:NM_001172292:exon5:c.T1245C:p.V415V,NIPAL4:NM_001099287:exon6:c.T1302C:p.V434V exonic ENSG00000172548 NA synonymous SNV ENSG00000172548:ENST00000435489:exon5:c.T1245C:p.V415V,ENSG00000172548:ENST00000311946:exon6:c.T1302C:p.V434V NA NA 5q33.3 NA NA NA NA rs4704870 0.98 0.98 0.976 0.986821 0.9553 1 0.9841 0.9977 0.9928 0.96 1 0.98 1 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 -0.353434 NA NA 0.963228 0.991864 NA 0.993 NA 2.7714386 1383 1 178858759 178858759 G A intronic RALGPS2 NA NA NA intronic ENSG00000116191 NA NA NA NA NA 1q25.2 NA NA NA NA rs3753534 0.41 0.41 0.422 0.407149 0.4175 0.2282 0.3401 0.7088 0.2209 0.42 0.23 0.33 0.65 0.3975 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.731028 NA NA 0.413837 0.652292 NA 0.428 NA 2.771163 1383 10 72813361 72813361 A G intergenic PCBD1,UNC5B dist=164820;dist=158931 NA NA intergenic ENSG00000259267,ENSG00000107731 dist=97963;dist=158966 NA NA NA NA 10q22.1 NA NA NA NA rs10740361 0.66 0.66 0.644 0.695288 0.5626 0.6716 0.5706 0.9175 0.6442 0.56 0.65 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 -0.829228 NA NA NA NA NA 0.645 NA 2.7707334 1383 17 39883595 39883595 T C intronic HAP1 NA NA NA exonic ENSG00000173805 NA synonymous SNV ENSG00000173805:ENST00000310778:exon9:c.A1386G:p.P462P NA NA 17q21.2 NA NA NA NA rs7216154 0.72 0.72 0.702 0.734026 0.6909 0.7421 0.7248 0.7352 0.7751 0.69 0.77 0.7 0.73 0.6948 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 -1.494763 NA NA 0.677093 0.723559 NA 0.841 NA 2.7705403 1383 21 43334669 43334669 G C intronic C2CD2 NA NA NA intronic ENSG00000157617 NA NA NA NA NA 21q22.3 NA NA NA NA rs3746907 0.37 0.37 0.337 0.384784 0.3986 0.255 0.3602 0.3949 0.5082 0.4 0.28 0.4 0.43 0.4177 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134492 NA NA 0.413488 0.419655 NA 0.333 NA 2.770212 1383 16 1129912 1129912 A G exonic SSTR5 NA synonymous SNV SSTR5:NM_001053:exon1:c.A1044G:p.P348P,SSTR5:NM_001172560:exon2:c.A1044G:p.P348P exonic ENSG00000162009 NA synonymous SNV ENSG00000162009:ENST00000293897:exon1:c.A1044G:p.P348P,ENSG00000162009:ENST00000397547:exon2:c.A1044G:p.P348P NA NA 16p13.3 NA NA NA NA rs642249 0.95 0.95 0.957 0.9377 0.9771 0.9405 0.9841 0.9327 0.8681 0.98 0.94 0.98 0.92 0.9533 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 0.462346 NA NA 0.966659 0.939723 NA 0.587 NA 2.7696076 1383 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 1383 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 1383 11 61106892 61106892 G C exonic DAK NA synonymous SNV DAK:NM_015533:exon5:c.G471C:p.T157T exonic ENSG00000149476 NA synonymous SNV ENSG00000149476:ENST00000529479:exon3:c.G468C:p.T156T,ENSG00000149476:ENST00000394900:exon5:c.G471C:p.T157T,ENSG00000149476:ENST00000532173:exon6:c.G471C:p.T157T NA NA 11q12.2 NA NA NA NA rs2513329 0.82 0.82 0.793 0.767572 0.9841 0.9702 0.9308 0.3132 0.8344 0.98 0.97 0.93 0.31 0.9219 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 -0.248359 NA NA 0.991502 0.437045 NA 0.746 NA 2.7691646 1383 3 132075746 132075746 G A UTR3 ACPP NM_001099:c.*24G>A NA NA UTR3 ENSG00000014257 ENST00000336375:c.*24G>A,ENST00000475741:c.*24G>A NA NA NA NA 3q22.1 NA NA NA NA rs1042330 0.35 0.35 0.335 0.396166 0.5378 0.119 0.4827 0.3608 0.5225 0.49 0.09 0.47 0.32 0.4724 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669055 NA NA 0.554651 0.385611 NA 0.355 NA 2.7684824 1383 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 1383 7 124499002 124499002 A C intronic POT1 NA NA NA intronic ENSG00000128513 NA NA NA NA NA 7q31.33 NA NA NA NA rs6977407 0.46 0.46 0.052 0.582069 0.5557 0.5089 0.5562 0.6483 0.6135 0.44 0.43 0.51 0.5 0.5903 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.580442 NA NA 0.086279 0.11961 NA NA NA 2.767721 1383 3 40251628 40251628 G A ncRNA_intronic EIF1B-AS1 NA NA NA intronic ENSG00000170011 NA NA NA NA NA 3p22.1 NA NA NA NA rs1799419 0.42 0.42 0.412 0.368011 0.5517 0.2589 0.5216 0.2791 0.3027 0.56 0.31 0.46 0.3 0.4798 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.085523 NA NA 0.534194 0.301771 NA 0.384 NA 2.7676393 1383 7 140218464 140218464 C A UTR3 DENND2A NM_015689:c.*43G>T NA NA UTR3 ENSG00000146966 ENST00000275884:c.*43G>T,ENST00000537639:c.*43G>T,ENST00000461883:c.*420G>T,ENST00000496613:c.*43G>T NA NA NA NA 7q34 NA NA NA NA rs6852 0.52 0.52 0.482 0.486422 0.5288 0.7728 0.4582 0.1831 0.5777 0.54 0.81 0.45 0.2 0.5148 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 1.896394 1.896394 NA 0.522165 0.232191 ID=COSN168209;OCCURENCE=1(large_intestine) 0.464 NA 2.7675684 1383 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 1383 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 1383 19 17611490 17611490 T G intronic SLC27A1 NA NA NA ncRNA_intronic ENSG00000269439 NA NA NA NA NA 19p13.11 NA Name=Pol2(phosphoS2) NA NA rs11879407 0.72 0.72 0.711 0.682109 0.8807 0.37 0.6844 0.823 0.6074 0.89 0.38 0.74 0.83 0.7868 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 -1.844149 NA NA 0.89907 0.824557 NA 0.804 NA 2.7667633 1383 22 37464624 37464624 T C intronic TMPRSS6 NA NA NA intronic ENSG00000187045 NA NA NA NA NA 22q12.3 NA NA NA NA rs877908 0.49 0.49 0.5 0.478634 0.4354 0.4256 0.2651 0.8215 0.2658 0.43 0.44 0.27 0.79 0.3994 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 0.457025 NA NA 0.398795 0.724828 NA 0.442 NA 2.766405 1383 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 1383 17 48668013 48668013 G C intronic CACNA1G NA NA NA intronic ENSG00000006283 NA NA NA NA NA 17q21.33 NA NA NA NA rs8064333 0.57 0.57 0.544 0.565495 0.4006 0.9008 0.5389 0.4539 0.5593 0.41 0.9 0.46 0.51 0.4568 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 1.059626 NA NA 0.376979 0.434259 NA 0.442 NA 2.765621 1383 14 22320876 22320876 A G intergenic OR4E2,DAD1 dist=186638;dist=712931 NA NA intronic ENSG00000211787 NA NA NA NA NA 14q11.2 NA NA NA NA rs2017238 0.25 0.25 0.221 0.25 0.3082 0.122 0.3242 0.2753 0.2352 0.3 0.12 0.33 0.25 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 -0.778613 NA NA 0.309846 0.297353 NA 0.29 NA 2.7652207 1384 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 1384 21 34707808 34707808 T G intronic IFNAR1 NA NA NA intronic ENSG00000142166 NA NA NA NA NA 21q22.11 NA NA NA NA rs2243592 0.37 0.37 0.365 0.362819 0.4105 0.3621 0.3674 0.3071 0.3865 0.41 0.36 0.36 0.31 0.4275 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.395654 1.395654 NA 0.397209 0.323877 NA 0.37 NA 2.764791 1384 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 1384 3 47451411 47451411 C T intronic PTPN23 NA NA NA intronic ENSG00000076201 NA NA NA NA NA 3p21.31 NA NA NA NA rs3736177 0.4 0.4 0.407 0.400559 0.3946 0.5327 0.4265 0.261 0.4407 0.4 0.54 0.42 0.24 0.4389 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250011 NA NA 0.402445 0.274091 NA 0.283 NA 2.764055 1384 8 145663814 145663814 A G intronic TONSL NA NA NA ncRNA_intronic ENSG00000232600 NA NA NA NA NA 8q24.3 NA NA NA NA rs13255086 0.51 0.51 0.481 0.476837 0.5338 0.3859 0.4841 0.5643 0.3885 0.55 0.42 0.51 0.55 0.5028 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.728804 NA NA 0.532705 0.54975 NA 0.5 NA 2.7640283 1384 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 1384 9 136641235 136641235 C T intronic VAV2 NA NA NA intronic ENSG00000160293 NA NA NA NA NA 9q34.2 NA NA NA NA rs667183 0.3 0.3 0.28 0.328474 0.4364 0.0367 0.2983 0.4244 0.41 0.44 0.02 0.28 0.4 0.38 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240999 NA NA 0.420349 0.421208 NA 0.297 NA 2.763251 1384 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 1384 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 1384 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 1384 3 52507719 52507719 G C intronic NISCH NA NA NA intronic ENSG00000010322 NA NA NA NA NA 3p21.1 NA NA NA NA rs13094915 0.49 0.49 0.484 0.449481 0.4185 0.4514 0.5303 0.5174 0.3303 0.43 0.51 0.53 0.52 0.4238 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.815607 NA NA 0.394651 0.530413 NA 0.377 NA 2.763049 1384 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 1384 11 14246296 14246296 G A intronic SPON1 NA NA NA ncRNA_intronic ENSG00000152268 NA NA NA NA NA 11p15.2 NA NA NA NA rs1025412 0.54 0.54 0.545 0.534145 0.5239 0.621 0.4452 0.4985 0.5665 0.51 0.61 0.48 0.54 0.5271 0.61 NA NA 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 0.520151 0.509737 NA 0.551 NA 2.7621823 1384 10 89463460 89463460 G C intronic PAPSS2 NA NA NA intronic ENSG00000198682 NA NA NA NA NA 10q23.2 NA NA NA NA rs7923151 0.51 0.51 0.543 0.546725 0.4026 0.4315 0.5403 0.7738 0.5112 0.41 0.44 0.51 0.76 0.4424 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 0.687633 NA NA 0.393019 0.714612 NA 0.609 NA 2.761981 1384 10 29581440 29581440 C T intronic LYZL1 NA NA NA intronic ENSG00000120563 NA NA NA NA NA 10p12.1 NA NA NA NA rs3818550 0.38 0.38 0.353 0.376797 0.4056 0.5159 0.4467 0.1846 0.4141 0.39 0.54 0.39 0.16 0.4096 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.102821 NA NA 0.423256 0.216523 NA 0.348 NA 2.761544 1384 3 108703548 108703548 C T intronic MORC1 NA NA NA intronic ENSG00000114487 NA NA NA NA NA 3q13.13 NA NA NA NA rs2593959 0.35 0.35 0.354 0.357228 0.4324 0.1081 0.2925 0.5023 0.3865 0.44 0.08 0.35 0.51 0.384 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.244603 NA NA 0.422424 0.517938 NA 0.37 NA 2.761176 1384 3 196754819 196754819 C G intronic MFI2 NA NA NA intronic ENSG00000163975 NA NA NA NA NA 3q29 NA NA NA NA rs2276788 0.43 0.43 0.375 0.357827 0.4473 0.6766 0.4452 0.1142 0.2045 0.46 0.63 0.46 0.13 0.4319 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.105248 NA NA 0.359634 0.132019 NA 0.428 NA 2.761166 1384 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 1384 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 1384 22 44283556 44283556 A G intronic PNPLA5 NA NA NA intronic ENSG00000100341 NA NA NA NA NA 22q13.31 NA NA NA NA rs5764380 0.49 0.49 0.482 0.501997 0.3748 0.9048 0.4582 0.2428 0.5992 0.38 0.89 0.43 0.23 0.4939 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 0.43926 NA NA 0.370465 0.265213 NA 0.377 NA 2.760835 1384 17 45198400 45198400 G A intronic CDC27 NA NA NA intronic ENSG00000004897 NA NA NA NA NA 17q21.32 NA NA NA NA rs938904 0.32 0.32 0.295 0.304113 0.4334 0.1548 0.402 0.3207 0.2331 0.43 0.15 0.42 0.28 0.4039 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.314091 NA NA 0.403233 0.319709 NA 0.254 NA 2.759467 1384 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 1384 19 3613596 3613596 A G ncRNA_exonic CACTIN-AS1 NA NA NA ncRNA_exonic ENSG00000226800 NA NA NA NA NA 19p13.3 NA NA NA NA rs57918402 0.66 0.66 0.657 0.676118 0.6302 0.5913 0.6686 0.8389 0.5961 0.63 0.57 0.67 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 0.828022 NA NA 0.619149 0.790159 NA 0.551 NA 2.7587176 1384 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 1384 11 60617834 60617834 C A UTR3 CCDC86 NM_024098:c.*36C>A NA NA ncRNA_UTR3 ENSG00000110104 NA NA NA NA NA 11q12.2 NA NA NA NA rs530963 0.67 0.67 0.648 0.678714 0.5517 0.9196 0.6931 0.5567 0.7157 0.56 0.91 0.67 0.57 0.6245 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 -0.157114 NA NA 0.565728 0.55495 NA 0.623 NA 2.758072 1384 17 3961489 3961489 C T intronic ZZEF1 NA NA NA intronic ENSG00000074755 NA NA NA NA NA 17p13.2 NA NA NA NA rs781839 0.46 0.46 0.493 0.464657 0.4085 0.2431 0.4078 0.7806 0.364 0.41 0.26 0.44 0.79 0.4359 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 0.2405 NA NA 0.397558 0.72752 NA 0.486 NA 2.758042 1384 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 1384 3 184700356 184700356 A C exonic VPS8 NA synonymous SNV VPS8:NM_001009921:exon40:c.A3423C:p.A1141A,VPS8:NM_015303:exon40:c.A3417C:p.A1139A exonic ENSG00000156931 NA synonymous SNV ENSG00000156931:ENST00000446204:exon38:c.A3147C:p.A1049A,ENSG00000156931:ENST00000287546:exon40:c.A3423C:p.A1141A,ENSG00000156931:ENST00000436792:exon40:c.A3417C:p.A1139A,ENSG00000156931:ENST00000437079:exon41:c.A3423C:p.A1141A NA NA 3q27.2 NA NA NA NA rs4572747 0.88 0.88 0.877 0.850439 0.9861 0.8909 0.9568 0.6218 0.9029 0.99 0.9 0.95 0.65 0.9413 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 -0.240828 NA NA 0.981916 0.669796 NA 0.87 NA 2.7573506 1384 19 55176535 55176535 C T intronic LILRB4 NA NA NA intronic ENSG00000186818 NA NA NA NA NA 19q13.42 NA NA NA NA rs1925241 0.44 0.44 0.465 0.444888 0.4095 0.5605 0.438 0.4365 0.3783 0.4 0.56 0.35 0.4 0.4368 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.449637 NA NA 0.396512 0.451884 NA 0.42 NA 2.757188 1384 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 1384 14 106494269 106494269 T C intergenic ADAM6,LINC00226 dist=55911;dist=250000 NA NA exonic ENSG00000211937 NA nonsynonymous SNV ENSG00000211937:ENST00000390597:exon2:c.A223G:p.N75D NA NA 14q32.33 NA NA NA NA rs12895651 0.68 0.68 0.626 0.694289 0.6988 0.8363 0.7608 0.4803 0.7853 0.69 0.85 0.71 0.45 0.6986 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 -1.948162 NA 0.96 0.678984 0.546617 NA 0.616 NA 2.7569494 1384 19 35504627 35504627 C A intronic GRAMD1A NA NA NA intronic ENSG00000089351 NA NA NA NA NA 19q13.12 NA NA NA NA rs7251988 0.36 0.36 0.364 0.326877 0.4344 0.3869 0.3847 0.2065 0.2761 0.43 0.36 0.39 0.23 0.3885 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.316314 NA NA 0.420337 0.230558 NA 0.312 NA 2.756763 1384 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 1384 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 1385 7 16445673 16445673 A T intronic ISPD NA NA NA intronic ENSG00000214960 NA NA NA NA NA 7p21.2 NA NA NA NA rs6461252 0.49 0.49 0.474 0.534145 0.3807 0.5585 0.4885 0.6483 0.545 0.38 0.54 0.43 0.67 0.4715 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 0.493929 NA NA 0.393074 0.637913 NA 0.601 NA 2.754726 1385 4 100062819 100062819 A G exonic ADH4 NA synonymous SNV ADH4:NM_000670:exon3:c.T135C:p.S45S exonic ENSG00000198099 NA synonymous SNV ENSG00000198099:ENST00000265512:exon3:c.T135C:p.S45S,ENSG00000198099:ENST00000423445:exon3:c.T192C:p.S64S,ENSG00000198099:ENST00000504125:exon3:c.T135C:p.S45S,ENSG00000198099:ENST00000505590:exon4:c.T192C:p.S64S,ENSG00000198099:ENST00000508393:exon4:c.T192C:p.S64S,ENSG00000198099:ENST00000512499:exon4:c.T192C:p.S64S NA NA 4q23 NA NA NA NA rs2032349 0.96 0.96 0.969 0.964058 0.9742 0.999 0.9438 0.9297 0.9785 0.97 1 0.95 0.91 0.9656 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.085915 NA NA 0.972326 0.932365 NA 0.971 NA 2.7545406 1385 22 21335259 21335259 C A intronic AIFM3 NA NA NA intronic ENSG00000183773 NA NA NA NA NA 22q11.21 NA NA NA NA rs178278 0.39 0.39 0.355 0.340256 0.4195 0.5377 0.3948 0.1051 0.3344 0.4 0.6 0.4 0.11 0.393 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.962913 NA NA 0.43314 0.169995 NA 0.225 NA 2.75436 1385 5 1081668 1081668 G A intronic SLC12A7 NA NA NA intronic ENSG00000113504 NA NA NA NA NA 5p15.33 NA NA NA NA rs13176210 0.3 0.3 0.273 0.267372 0.4195 0.2887 0.268 0.1082 0.3037 0.43 0.28 0.31 0.1 0.3863 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.382366 NA NA 0.440581 0.169846 NA 0.283 NA 2.753619 1385 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 1385 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 1385 12 27470866 27470866 G A exonic STK38L NA synonymous SNV STK38L:NM_015000:exon11:c.G993A:p.T331T exonic ENSG00000211455 NA synonymous SNV ENSG00000211455:ENST00000539577:exon9:c.G714A:p.T238T,ENSG00000211455:ENST00000389032:exon11:c.G993A:p.T331T NA NA 12p11.23 NA NA NA NA rs6487601 0.98 0.98 0.985 0.984824 0.9652 1 0.9914 0.9841 0.9857 0.97 1 0.99 0.97 0.9764 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.708343 NA NA 0.972209 0.985701 NA 0.986 NA 2.7528576 1385 12 89853408 89853408 G A intronic POC1B NA NA NA intronic ENSG00000139323 NA NA NA NA NA 12q21.33 NA Name=CTCF NA NA rs4842658 0.75 0.75 0.777 0.749002 0.7475 0.7351 0.6686 0.7693 0.7945 0.75 0.8 0.65 0.78 0.7451 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 -1.285232 NA NA 0.75495 0.771695 NA 0.587 NA 2.75245 1385 4 76805902 76805902 C T exonic PPEF2 NA synonymous SNV PPEF2:NM_006239:exon8:c.G591A:p.P197P exonic ENSG00000156194 NA synonymous SNV ENSG00000156194:ENST00000286719:exon8:c.G591A:p.P197P NA NA 4q21.1 NA NA NA NA rs1976518 0.88 0.88 0.852 0.86222 0.9821 0.9891 0.9467 0.5378 0.9867 0.98 0.99 0.94 0.54 0.9494 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 -1.411204 NA NA 0.982907 0.591239 NA 0.79 NA 2.7522596 1385 22 50356555 50356555 T C intronic PIM3 NA NA NA intronic ENSG00000198355 NA NA NA NA NA 22q13.33 NA Name=Pol2,Pol2-4H8 NA NA rs4078443 0.78 0.78 0.758 0.726038 0.7674 0.7788 0.817 0.761 0.5174 0.77 0.8 0.81 0.76 0.7283 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 0.109363 NA NA 0.752094 0.759672 NA 0.783 NA 2.752206 1385 10 104855656 104855656 T C intronic NT5C2 NA NA NA intronic ENSG00000076685 NA NA NA NA NA 10q24.32 NA NA NA NA rs1926030 0.44 0.44 0.427 0.443291 0.4135 0.5853 0.415 0.3449 0.4806 0.42 0.56 0.39 0.36 0.4248 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.279834 NA NA 0.410116 0.376305 NA 0.312 NA 2.751584 1385 9 124929006 124929006 G C intronic MORN5 NA NA NA intronic ENSG00000185681 NA NA NA NA NA 9q33.2 NA NA NA NA rs2274747 0.23 0.23 0.21 0.195288 0.4404 0.0595 0.255 0.0303 0.2638 0.44 0.06 0.29 0.05 0.3455 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.265968 NA NA 0.462674 0.092147 NA 0.21 NA 2.751426 1385 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 1385 1 3747580 3747580 C T intronic CEP104 NA NA NA intronic ENSG00000116198 NA NA NA NA NA 1p36.32 NA NA NA NA rs6424058 0.37 0.37 0.35 0.345048 0.4294 0.3383 0.4928 0.2179 0.3323 0.43 0.35 0.46 0.24 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 -0.236665 NA NA 0.434884 0.242397 NA 0.428 NA 2.751016 1385 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 1385 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 1385 1 9782556 9782556 C T intronic PIK3CD NA NA NA intronic ENSG00000171608 NA NA NA NA NA 1p36.22 NA NA NA NA rs11589267 0.21 0.21 0.215 0.165535 0.4543 NA 0.2781 0.0424 0.1258 0.44 NA 0.31 0.04 0.3341 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234403 NA NA 0.461279 0.108942 ID=COSN162922;OCCURENCE=1(breast) 0.217 NA 2.750321 1385 1 43418026 43418026 C T intronic SLC2A1 NA NA NA intronic ENSG00000117394 NA NA NA Score=591;Name=lod=337 NA 1p34.2 NA NA NA NA rs2297972 0.62 0.62 0.592 0.580671 0.7664 0.6379 0.6225 0.2685 0.7229 0.76 0.67 0.67 0.3 0.7169 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 0.271698 NA NA 0.766497 0.363532 NA 0.572 NA 2.750203 1385 11 101833644 101833644 C T exonic KIAA1377 NA synonymous SNV KIAA1377:NM_020802:exon6:c.C1878T:p.T626T exonic ENSG00000110318 NA synonymous SNV ENSG00000110318:ENST00000537689:exon3:c.C1281T:p.T427T,ENSG00000110318:ENST00000263468:exon6:c.C1878T:p.T626T NA NA 11q22.1 NA NA NA NA rs7109233 0.98 0.98 0.982 0.98722 0.9622 1 0.9755 0.997 0.9949 0.97 1 0.97 0.99 0.9815 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.249413 NA NA 0.972882 0.995 NA 0.913 NA 2.7500846 1385 16 2815237 2815237 A C exonic SRRM2 NA synonymous SNV SRRM2:NM_016333:exon11:c.A4708C:p.R1570R exonic ENSG00000167978 NA synonymous SNV ENSG00000167978:ENST00000301740:exon11:c.A4708C:p.R1570R NA NA 16p13.3 NA NA NA NA rs3094773 0.91 0.91 0.9 0.895168 0.9851 0.7054 0.9942 0.9909 0.7986 0.98 0.68 0.99 0.99 0.9429 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 -1.436084 NA NA 0.988605 0.991128 NA 0.913 NA 2.7500616 1385 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 1385 1 93580992 93580992 C T intronic MTF2 NA NA NA intronic ENSG00000143033 NA NA NA Score=349;Name=lod=35 NA 1p22.1 NA NA NA NA rs566843 0.68 0.68 0.619 0.665735 0.7425 0.9365 0.7781 0.1626 0.908 0.74 0.94 0.78 0.2 0.7437 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 2.172397 2.172397 NA 0.764651 0.277122 NA 0.63 NA 2.749149 1385 7 70598059 70598059 A G intronic WBSCR17 NA NA NA intronic ENSG00000185274 NA NA NA NA NA 7q11.22 NA NA Name=5 NA rs2903458 0.84 0.84 0.812 0.840256 0.7167 0.9881 0.8098 0.9017 0.7536 0.71 0.98 0.78 0.93 0.7966 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 1.491195 1.491195 NA 0.738027 0.91114 NA 0.486 NA 2.748673 1385 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 1385 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 1385 22 23256464 23256464 G C intergenic IGLL5,RTDR1 dist=18451;dist=145129 NA NA exonic ENSG00000211681 NA synonymous SNV ENSG00000211681:ENST00000390327:exon1:c.G57C:p.T19T NA NA 22q11.22 NA Name=TCF12 NA NA rs463185 0.93 0.93 0.937 0.939497 0.9105 0.9742 0.9049 0.9675 0.9202 0.89 0.98 0.9 0.96 0.923 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 -0.516886 NA NA 0.919572 0.960433 NA 0.986 NA 2.746928 1385 10 88717140 88717140 T A exonic MMRN2 NA synonymous SNV MMRN2:NM_024756:exon1:c.A159T:p.V53V exonic ENSG00000173269 NA synonymous SNV ENSG00000173269:ENST00000372027:exon1:c.A159T:p.V53V NA NA 10q23.2 NA NA NA NA rs4244973 0.98 0.98 0.984 0.983227 0.9791 0.999 0.9827 0.9743 0.9836 0.98 1 0.98 0.97 0.9722 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.912051 NA NA 0.968488 0.976623 NA 0.978 NA 2.7468786 1385 2 65495887 65495887 G A UTR3 ACTR2 NM_005722:c.*19G>A,NM_001005386:c.*19G>A NA NA UTR3 ENSG00000138071 ENST00000260641:c.*19G>A,ENST00000377982:c.*19G>A NA NA Score=317;Name=lod=26 NA 2p14 NA NA NA NA rs268875 0.82 0.82 0.833 0.808307 0.8728 0.7083 0.7925 0.9002 0.7321 0.85 0.7 0.83 0.89 0.8411 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 -0.553713 NA NA 0.872848 0.894689 NA 0.87 NA 2.7465854 1385 2 43991357 43991357 A C intronic PLEKHH2 NA NA NA intronic ENSG00000152527 NA NA NA Score=425;Name=lod=71 NA 2p21 NA NA NA NA rs7565517 0.71 0.71 0.733 0.747604 0.7306 0.4385 0.683 0.9531 0.8517 0.73 0.47 0.72 0.95 0.748 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 3.405644 3.405644 NA 0.774884 0.921889 NA 0.819 NA 2.746516 1385 9 21968199 21968199 C G UTR3 CDKN2A NM_000077:c.*29G>C,NM_001195132:c.*193G>C,NM_058197:c.*423G>C,NM_058195:c.*144G>C NA NA UTR3 ENSG00000147889 ENST00000361570:c.*144G>C,ENST00000579755:c.*144G>C,ENST00000304494:c.*29G>C,ENST00000579122:c.*9G>C,ENST00000578845:c.*29G>C,ENST00000530628:c.*70G>C,ENST00000498124:c.*193G>C,ENST00000498628:c.*29G>C,ENST00000380151:c.*423G>C,ENST00000494262:c.*29G>C NA NA NA NA 9p21.3 NA Name=SP1 NA NA rs11515 0.88 0.88 0.88 0.902157 0.8519 0.9812 0.9222 0.8359 0.9479 0.85 0.97 0.91 0.81 0.8802 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 -0.802169 NA NA 0.854767 0.838175 ID=COSM14251;OCCURENCE=1(oesophagus) 0.906 NA 2.7464664 1385 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 1385 16 89782989 89782989 A G exonic VPS9D1 NA synonymous SNV VPS9D1:NM_004913:exon4:c.T312C:p.I104I exonic ENSG00000075399 NA synonymous SNV ENSG00000075399:ENST00000561976:exon3:c.T102C:p.I34I,ENSG00000075399:ENST00000389386:exon4:c.T312C:p.I104I NA NA 16q24.3 NA NA NA NA rs7206570 0.91 0.91 0.916 0.895168 0.9851 0.7401 0.9784 0.9009 0.8957 0.98 0.8 0.97 0.9 0.9514 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 0.470802 NA NA 0.983983 0.905325 NA 0.928 NA 2.7461836 1385 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 1385 20 23472391 23472391 A G exonic CST8 NA synonymous SNV CST8:NM_005492:exon2:c.A87G:p.T29T exonic ENSG00000125815 NA synonymous SNV ENSG00000125815:ENST00000246012:exon2:c.A87G:p.T29T,ENSG00000125815:ENST00000449810:exon2:c.A87G:p.T29T NA NA 20p11.21 NA NA NA NA rs2983288 0.99 0.99 0.987 0.991014 0.9702 1 0.9798 0.9992 1 0.97 1 0.97 1 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 0.038118 NA NA 0.970465 0.993872 NA 0.993 NA 2.7454016 1385 2 189932831 189932831 T C exonic COL5A2 NA synonymous SNV COL5A2:NM_000393:exon21:c.A1311G:p.P437P exonic ENSG00000204262 NA synonymous SNV ENSG00000204262:ENST00000374866:exon21:c.A1311G:p.P437P NA NA 2q32.2 NA NA NA NA rs2229495 0.95 0.95 0.952 0.942891 0.9801 0.9653 0.8732 0.9077 0.9785 0.98 0.95 0.89 0.94 0.9591 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 0.816318 NA NA 0.982209 0.924421 NA 0.942 NA 2.7452576 1385 15 90270567 90270567 T C intronic WDR93 NA NA NA intronic ENSG00000140527 NA NA NA NA NA 15q26.1 NA NA NA NA rs3743117 0.35 0.35 0.347 0.375998 0.4046 0.2034 0.3127 0.4841 0.4233 0.41 0.23 0.35 0.41 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 -0.248017 NA NA 0.445672 0.475227 NA 0.529 NA 2.745128 1386 12 6879279 6879279 A G intronic PTMS NA NA NA intronic ENSG00000159335 NA NA NA NA NA 12p13.31 NA NA NA NA rs4764621 0.54 0.54 0.535 0.542532 0.3946 0.5903 0.4294 0.82 0.3507 0.4 0.6 0.42 0.79 0.44 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 0.015737 NA NA 0.420465 0.76532 NA 0.594 NA 2.744935 1386 7 134261097 134261097 C G intronic AKR1B15 NA NA NA intronic ENSG00000227471 NA NA NA NA NA 7q33 NA NA NA NA rs2161803 0.48 0.48 0.45 0.482628 0.4026 0.4712 0.4409 0.6188 0.4223 0.4 0.49 0.43 0.62 0.4383 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.494951 NA NA 0.414419 0.573536 NA 0.428 NA 2.744681 1386 7 44611077 44611077 T C intronic DDX56 NA NA NA intronic ENSG00000136271 NA NA NA NA NA 7p13 NA NA NA NA rs217375 0.32 0.32 0.316 0.300319 0.4334 0.0228 0.3156 0.4206 0.2761 0.43 0.02 0.38 0.45 0.3648 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.524642 NA NA 0.457209 0.413754 NA 0.29 NA 2.744591 1386 22 22287964 22287964 T C intronic PPM1F NA NA NA intronic ENSG00000100034 NA NA NA NA NA 22q11.22 NA NA NA NA rs2027790 0.35 0.35 0.329 0.34385 0.4443 0.2004 0.3833 0.3873 0.3016 0.43 0.15 0.4 0.42 0.3765 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453871 NA NA 0.435233 0.372162 NA 0.442 NA 2.743967 1386 18 12359920 12359920 G A intronic AFG3L2 NA NA NA intronic ENSG00000141385 NA NA NA NA NA 18p11.21 NA Name=eGFP-JunD,TAL1_(SC-12984),Pol2,GATA-1,c-Jun 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 1386 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 1386 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 1386 X 2715425 2715425 A G intronic XG NA NA NA intronic ENSG00000124343 NA NA NA NA NA Xp22.33 NA NA NA NA rs4484858 0.61 0.61 0.58903 NA NA NA NA NA NA 0.63 0.48 0.78 0.62 0.618 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 -0.274925 NA NA 0.638269 0.576793 NA 0.435 NA 2.743731 1386 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 1386 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 1386 19 4557056 4557056 A C intronic SEMA6B NA NA NA intronic ENSG00000167680 NA NA NA NA NA 19p13.3 NA Name=ZBTB7A_(SC-34508) NA NA rs10422881 0.82 0.82 0.828 0.827476 0.7465 0.8254 0.7882 0.9493 0.7761 0.75 0.84 0.77 0.93 0.7665 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 0.221388 NA NA 0.743718 0.924194 NA 0.696 NA 2.743282 1386 3 42956273 42956273 T C exonic ZNF662 NA synonymous SNV ZNF662:NM_001134656:exon4:c.T786C:p.I262I,ZNF662:NM_207404:exon5:c.T708C:p.I236I exonic ENSG00000182983 NA synonymous SNV ENSG00000182983:ENST00000328199:exon4:c.T786C:p.I262I,ENSG00000182983:ENST00000440367:exon5:c.T708C:p.I236I,ENSG00000182983:ENST00000541208:exon5:c.T708C:p.I236I NA NA 3p22.1 NA NA NA NA rs1427801 0.94 0.94 0.937 0.939097 0.9751 1 0.9654 0.8185 0.9836 0.97 1 0.96 0.8 0.9704 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.016917 NA NA 0.977907 0.84158 NA 0.949 NA 2.7432596 1386 16 56917953 56917953 T C intronic SLC12A3 NA NA NA intronic ENSG00000070915 NA NA NA NA NA 16q13 NA NA NA NA rs2304483 0.56 0.56 0.546 0.570687 0.4225 0.62 0.5144 0.7277 0.5 0.42 0.62 0.51 0.72 0.459 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.386922 NA NA 0.375349 0.6697 NA 0.435 NA 2.743151 1386 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 1386 7 120773954 120773954 A G intronic CPED1 NA NA NA intronic ENSG00000106034 NA NA NA NA NA 7q31.31 NA NA NA NA rs61128227 0.4 0.4 0.355 0.374201 0.4354 0.6081 0.5937 0.0174 0.3967 0.43 0.6 0.54 0.03 0.4213 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.493703 NA NA 0.400769 0.086709 ID=COSM150380;OCCURENCE=1(stomach) 0.355 NA 2.742531 1386 19 6988791 6988791 G C ncRNA_intronic EMR4P NA NA NA ncRNA_intronic ENSG00000268758 NA NA NA NA NA 19p13.2 NA NA NA NA rs8103492 0.6 0.6 0.579 0.597045 0.6352 0.6419 0.7046 0.3956 0.7076 0.65 0.63 0.71 0.41 0.646 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.782052 NA NA 0.643118 0.447609 NA 0.543 NA 2.7423486 1386 8 69015242 69015242 T C intronic PREX2 NA NA NA intronic ENSG00000046889 NA NA NA NA NA 8q13.2 NA NA NA NA rs1014663 0.48 0.48 0.497 0.492812 0.3936 0.4673 0.4539 0.5923 0.5143 0.4 0.5 0.43 0.62 0.4726 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.426429 NA NA 0.391512 0.584475 NA 0.457 NA 2.742288 1386 4 75681217 75681217 A G intronic BTC NA NA NA intronic ENSG00000174808 NA NA NA NA NA 4q13.3 NA NA NA NA rs11734944 0.48 0.48 0.433 0.43131 0.4195 0.629 0.4784 0.3139 0.365 0.44 0.69 0.47 0.32 0.4268 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 0.22025 NA NA 0.411977 0.302996 NA 0.442 NA 2.741723 1386 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 1386 2 1926437 1926437 G T exonic MYT1L NA synonymous SNV MYT1L:NM_015025:exon10:c.C1104A:p.P368P exonic ENSG00000186487 NA synonymous SNV ENSG00000186487:ENST00000602387:exon1:c.C66A:p.P22P,ENSG00000186487:ENST00000399161:exon10:c.C1104A:p.P368P,ENSG00000186487:ENST00000428368:exon10:c.C1104A:p.P368P NA NA 2p25.3 NA NA NA NA rs1529667 0.99 0.99 0.994 0.991214 0.9761 1 0.9813 0.9985 0.9949 0.98 1 0.98 1 0.9802 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.992566 NA NA 0.968973 0.993025 NA 0.986 NA 2.7413936 1386 12 7053362 7053362 A G intronic C12orf57 NA NA NA ncRNA_exonic ENSG00000272173 NA NA NA NA NA 12p13.31 NA Name=POU2F2,CHD2_(N-1250),Pol2,Pol2(phosphoS2),ELF1_(SC-631),HEY1,NELFe,BCL11A,GABP,Pol2-4H8,TAF1,HMGN3,ZEB1_(SC-25388),BCL3,PAX5-C20,RXRA,Oct-2,YY1_(C-20),YY1,Pol2(b),AP-2gamma NA NA rs915997 0.91 0.91 0.923 0.907149 0.8648 0.9187 0.9452 0.9864 0.8047 0.85 0.9 0.94 0.98 0.8638 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 0.138892 NA NA 0.863837 0.962551 NA 0.957 NA 2.7408963 1386 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 1386 15 22929906 22929906 A G intronic CYFIP1 NA NA NA intronic ENSG00000068793 NA NA NA NA NA 15q11.2 NA Name=MafK_(ab50322) NA NA rs2305093 0.81 0.81 0.849 0.85024 0.7425 0.874 0.8746 0.9523 0.7812 0.69 0.86 0.83 0.94 0.7832 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 -0.645591 NA NA 0.733837 0.918066 NA 0.348 NA 2.740463 1386 10 101553259 101553259 C T intronic ABCC2 NA NA NA intronic ENSG00000023839 NA NA NA NA NA 10q24.2 NA NA NA NA rs2804400 0.35 0.35 0.323 0.335463 0.4384 0.247 0.3977 0.2716 0.363 0.42 0.27 0.45 0.27 0.3886 0.45 NA NA 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 0.432558 0.283704 ID=COSN163735;OCCURENCE=1(breast) 0.391 NA 2.740442 1386 4 5746916 5746916 C T intronic EVC NA NA NA intronic ENSG00000072840 NA NA NA NA NA 4p16.2 NA NA NA NA rs4689313 0.55 0.55 NA 0.590056 0.6759 0.3532 0.549 0.7148 0.6063 0.67 0.3 0.55 0.68 0.5842 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.984023 NA NA NA NA NA 0.486 NA 2.7399 1386 8 6681256 6681256 A C intronic XKR5 NA NA NA ncRNA_intronic ENSG00000186530 NA NA NA NA NA 8p23.1 NA NA NA NA rs9772979 0.67 0.67 0.674 0.711262 0.4831 0.9355 0.6715 0.7057 0.7505 0.46 0.94 0.63 0.71 0.6305 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 -0.896126 NA NA 0.48001 0.670588 NA 0.616 NA 2.7397233 1386 10 97127462 97127462 C A intronic SORBS1 NA NA NA intronic ENSG00000095637 NA NA NA Score=405;Name=lod=59 NA 10q24.1 NA NA NA NA rs6583998 0.79 0.79 0.788 0.82508 0.7495 0.7649 0.8559 0.8729 0.8783 0.73 0.77 0.83 0.86 0.7851 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 0.856032 NA NA 0.725698 0.832047 NA 0.761 NA 2.739702 1386 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 1386 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 1386 12 39096664 39096664 T A intronic CPNE8 NA NA NA intronic ENSG00000139117 NA NA NA NA NA 12q12 NA NA NA NA rs7960616 0.28 0.28 0.265 0.266174 0.4483 0.2341 0.3012 0.0605 0.365 0.44 0.23 0.31 0.08 0.3688 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.600391 NA NA 0.444276 0.116432 ID=COSN164215;OCCURENCE=1(breast) 0.261 NA 2.738624 1386 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 1386 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 1386 7 44610490 44610490 C T intronic DDX56 NA NA NA intronic ENSG00000136271 NA NA NA NA NA 7p13 NA NA NA NA rs217376 0.33 0.33 0.35 0.314097 0.4334 0.0228 0.3271 0.4667 0.2761 0.43 0.02 0.38 0.49 0.3697 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.066135 NA NA 0.459302 0.468679 NA 0.297 NA 2.737598 1386 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 1386 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 1386 1 66829262 66829262 A G intronic PDE4B NA NA NA intronic ENSG00000184588 NA NA NA NA NA 1p31.3 NA NA Name=3 NA rs783039 0.85 0.85 0.867 0.86901 0.7416 0.9454 0.7839 0.9349 0.8926 0.74 0.96 0.79 0.94 0.7917 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 0.573405 NA NA 0.729535 0.910803 NA 0.891 NA 2.737165 1386 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 1386 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 1386 2 36994439 36994439 A C intronic VIT NA NA NA intronic ENSG00000205221 NA NA NA NA NA 2p22.2 NA NA NA NA rs11124542 0.45 0.45 0.418 0.470847 0.3917 0.3661 0.5259 0.5522 0.5112 0.4 0.34 0.54 0.58 0.4584 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.204615 NA NA 0.412907 0.550613 NA 0.572 NA 2.736993 1386 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 1386 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 1386 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 1386 16 15818310 15818310 G A UTR3 NDE1 NM_001143979:c.*202G>A,NM_017668:c.*202G>A NA NA UTR3 ENSG00000072864 ENST00000396355:c.*202G>A,ENST00000396354:c.*202G>A,ENST00000342673:c.*202G>A NA NA NA NA 16p13.11 NA NA NA NA rs11130 0.46 0.46 0.436 0.504992 0.503 0.6062 0.5836 0.2648 0.6718 0.49 0.56 0.57 0.23 0.5502 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.653827 NA NA 0.544745 0.323757 NA 0.507 NA 2.7353884 1387 2 37410537 37410537 C T intronic SULT6B1 NA NA NA intronic ENSG00000138068 NA NA NA NA NA 2p22.2 NA NA NA NA rs6544061 0.37 0.37 0.31 0.344649 0.4583 0.1448 0.4092 0.4599 0.2321 0.44 0.17 0.42 0.46 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 1.030986 NA NA 0.428953 0.46936 NA 0.333 NA 2.734447 1387 1 207297484 207297484 G C intronic C4BPA NA NA NA intronic ENSG00000123838 NA NA NA NA NA 1q32.2 NA NA NA NA rs2842707 0.49 0.49 0.482 0.525759 0.4046 0.6052 0.5259 0.5371 0.5532 0.41 0.57 0.52 0.51 0.4523 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.591586 NA NA 0.408721 0.514526 ID=COSN163414;OCCURENCE=1(NS) 0.362 NA 2.734379 1387 8 18666210 18666210 G A intronic PSD3 NA NA NA intronic ENSG00000156011 NA NA NA NA NA 8p22 NA NA NA NA rs2638653 0.47 0.47 0.466 0.464257 0.6262 0.3244 0.5447 0.3442 0.547 0.62 0.37 0.52 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 0.696189 NA NA 0.639535 0.358382 NA 0.558 NA 2.734265 1387 6 75844600 75844600 C T intronic COL12A1 NA NA NA intronic ENSG00000111799 NA NA NA NA NA 6q13 NA NA NA NA rs1332020 0.46 0.46 0.454 0.460863 0.4185 0.5268 0.4928 0.447 0.4325 0.42 0.52 0.49 0.42 0.4329 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.087142 NA NA 0.414517 0.414796 NA 0.399 NA 2.734083 1387 19 6984708 6984708 G A ncRNA_exonic EMR4P NA NA NA ncRNA_exonic ENSG00000268758 NA NA NA NA NA 19p13.2 NA NA NA NA rs7247453 0.6 0.6 0.575 0.597244 0.6362 0.6419 0.7032 0.3956 0.7086 0.65 0.63 0.71 0.4 0.6554 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.593959 NA NA 0.641898 0.450463 NA 0.543 NA 2.7331686 1387 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 1387 1 22313161 22313161 T C exonic CELA3B NA synonymous SNV CELA3B:NM_007352:exon7:c.T780C:p.I260I exonic ENSG00000219073 NA synonymous SNV ENSG00000219073:ENST00000400277:exon4:c.T489C:p.I163I,ENSG00000219073:ENST00000337107:exon7:c.T780C:p.I260I NA NA 1p36.12 NA NA NA NA rs1803530 0.87 0.87 0.784 0.880791 0.992 0.7629 0.9496 0.792 0.9591 1 0.72 0.96 0.8 0.951 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.072343 NA NA 0.990698 0.806854 NA 0.812 NA 2.7329686 1387 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 1387 7 31617733 31617733 T C exonic CCDC129 NA synonymous SNV CCDC129:NM_194300:exon7:c.T855C:p.V285V,CCDC129:NM_001257968:exon8:c.T933C:p.V311V,CCDC129:NM_001257967:exon9:c.T885C:p.V295V exonic ENSG00000180347 NA synonymous SNV ENSG00000180347:ENST00000409210:exon6:c.T579C:p.V193V,ENSG00000180347:ENST00000407970:exon8:c.T855C:p.V285V,ENSG00000180347:ENST00000451887:exon8:c.T933C:p.V311V NA NA 7p14.3 NA NA NA NA rs6945679 0.96 0.96 0.943 0.952875 0.9761 0.9911 0.9827 0.882 0.9642 0.98 0.99 0.98 0.87 0.9746 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 0.076774 NA NA 0.983488 0.901863 NA 0.957 NA 2.7324786 1387 16 72124495 72124495 A C intronic TXNL4B NA NA NA intronic ENSG00000140830 NA NA NA NA NA 16q22.2 NA NA NA NA rs2303285 0.47 0.47 0.511 0.513978 0.4026 0.3552 0.3602 0.8094 0.502 0.39 0.37 0.38 0.79 0.4383 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 0.460012 NA NA 0.426744 0.727707 ID=COSN165255;OCCURENCE=1(breast) 0.522 NA 2.732356 1387 4 5469810 5469810 T C intronic STK32B NA NA NA intronic ENSG00000152953 NA NA NA NA NA 4p16.2 NA NA NA NA rs2301855 0.31 0.31 0.309 0.280152 0.4463 0.1012 0.2882 0.3147 0.2413 0.47 0.1 0.31 0.33 0.3689 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.152993 NA NA 0.452674 0.32138 NA 0.319 NA 2.732126 1387 15 65315961 65315961 T C intronic MTFMT NA NA NA intronic ENSG00000103707 NA NA NA NA NA 15q22.31 NA NA NA NA rs4776661 0.46 0.46 0.423 0.388778 0.4344 0.7014 0.5403 0.152 0.2321 0.44 0.72 0.51 0.14 0.4116 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.382313 2.382313 NA 0.422714 0.184197 NA 0.333 NA 2.731286 1387 9 97372172 97372172 C T intronic FBP1 NA NA NA intronic ENSG00000165140 NA NA NA NA NA 9q22.32 NA NA NA NA rs3739747 0.36 0.36 0.349 0.344249 0.4215 0.1954 0.5288 0.326 0.3119 0.42 0.2 0.52 0.33 0.4015 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.045824 NA NA 0.445814 0.339083 NA 0.384 NA 2.731186 1387 16 56996288 56996288 G A intronic CETP NA NA NA intronic ENSG00000087237 NA NA NA NA NA 16q13 NA NA NA NA rs708272 0.38 0.38 0.366 0.377596 0.4254 0.375 0.4625 0.2466 0.4479 0.42 0.4 0.43 0.25 0.4292 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.885322 NA NA 0.414365 0.28653 NA 0.406 NA 2.731035 1387 5 154268902 154268902 C T exonic GEMIN5 NA synonymous SNV GEMIN5:NM_001252156:exon27:c.G4335A:p.A1445A,GEMIN5:NM_015465:exon27:c.G4338A:p.A1446A exonic ENSG00000082516 NA synonymous SNV ENSG00000082516:ENST00000285873:exon27:c.G4338A:p.A1446A NA NA 5q33.2 NA NA NA NA rs816739 0.95 0.95 0.944 0.950879 0.9781 0.9782 0.9784 0.8722 0.9816 0.97 0.97 0.98 0.88 0.9711 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 -0.960605 NA NA 0.986512 0.886291 NA 0.935 NA 2.7309546 1387 1 72058552 72058552 G A exonic NEGR1 NA synonymous SNV NEGR1:NM_173808:exon6:c.C888T:p.T296T exonic ENSG00000172260 NA synonymous SNV ENSG00000172260:ENST00000434200:exon5:c.C750T:p.T250T,ENSG00000172260:ENST00000306821:exon6:c.C504T:p.T168T,ENSG00000172260:ENST00000357731:exon6:c.C888T:p.T296T NA NA 1p31.1 NA NA NA NA rs1413368 0.88 0.88 0.857 0.849641 0.996 0.8472 0.928 0.6634 0.8978 1 0.85 0.93 0.68 0.9433 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.803774 NA NA 0.99686 0.701316 NA 0.855 NA 2.7305066 1387 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 1387 7 1481919 1481919 C A exonic MICALL2 NA synonymous SNV MICALL2:NM_182924:exon7:c.G1620T:p.A540A exonic ENSG00000164877 NA synonymous SNV ENSG00000164877:ENST00000405088:exon3:c.G984T:p.A328A,ENSG00000164877:ENST00000413446:exon6:c.G1494T:p.A498A,ENSG00000164877:ENST00000297508:exon7:c.G1620T:p.A540A NA NA 7p22.3 NA NA NA NA rs4236408 0.99 0.99 0.989 0.992212 0.9732 1 0.9856 0.9985 1 0.97 1 0.99 1 0.9845 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.154925 NA NA 0.979186 0.997503 NA 1 NA 2.7297806 1387 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 1387 17 74286173 74286173 A G intronic QRICH2 NA NA NA intronic ENSG00000129646 NA NA NA NA NA 17q25.1 NA NA NA NA rs17509527 0.57 0.57 0.609 0.616014 0.3847 0.6508 0.5245 0.8593 0.5542 0.36 0.66 0.51 0.85 0.4829 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 -0.277343 NA NA 0.40314 0.791648 NA 0.514 NA 2.72926 1387 13 46050519 46050519 T C intronic COG3 NA NA NA intronic ENSG00000136152 NA NA NA NA NA 13q14.13 NA NA NA NA rs2986001 0.39 0.39 0.392 0.367412 0.4175 0.497 0.3876 0.1778 0.4243 0.4 0.51 0.39 0.22 0.4117 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.093014 3.093014 NA 0.442209 0.240127 NA 0.362 NA 2.728591 1387 14 90866346 90866346 C T intronic CALM1 NA NA NA intronic ENSG00000198668 NA NA NA NA NA 14q32.11 NA NA NA NA rs2268433 0.55 0.55 0.505 0.484425 0.6471 0.7748 0.4726 0.1392 0.4928 0.66 0.78 0.52 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 -0.005396 NA NA 0.62445 0.221098 NA 0.471 NA 2.72845 1387 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 1387 6 11192575 11192575 C T intronic NEDD9 NA NA NA ncRNA_intronic ENSG00000247925 NA NA NA Score=401;Name=lod=57 NA 6p24.2 NA NA NA NA rs1465131 0.9 0.9 0.892 0.913538 0.8618 0.998 0.9035 0.8525 0.9693 0.86 1 0.87 0.84 0.8868 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.118556 NA NA 0.85686 0.835452 NA 0.87 NA 2.7278733 1387 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 1387 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 1387 7 121698827 121698827 A C intronic PTPRZ1 NA NA NA intronic ENSG00000106278 NA NA NA NA NA 7q31.32 NA NA NA NA rs1206381 0.46 0.46 0.456 0.501997 0.3897 0.3492 0.4856 0.6483 0.589 0.37 0.36 0.44 0.69 0.4614 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 1.065765 NA NA 0.421744 0.598956 NA 0.428 NA 2.727156 1387 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 1387 19 18974200 18974200 A G intronic UPF1 NA NA NA intronic ENSG00000005007 NA NA NA NA NA 19p13.11 NA NA NA NA rs2238658 0.42 0.42 0.416 0.47484 0.4254 0.4812 0.3487 0.4297 0.6697 0.43 0.5 0.33 0.39 0.4395 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.141187 NA NA 0.409535 0.438947 NA 0.478 NA 2.725565 1387 5 54404015 54404015 C T exonic GZMA NA synonymous SNV GZMA:NM_006144:exon4:c.C420T:p.D140D exonic ENSG00000145649 NA synonymous SNV ENSG00000145649:ENST00000274306:exon4:c.C420T:p.D140D NA NA 5q11.2 NA NA NA NA rs1875506 0.98 0.98 0.979 0.98123 0.9751 1 0.9899 0.9531 1 0.97 1 0.99 0.96 0.9836 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.190835 NA NA 0.982442 0.942578 NA 1 NA 2.7255246 1387 22 37491545 37491545 T C intronic TMPRSS6 NA NA NA intronic ENSG00000187045 NA NA NA NA NA 22q12.3 NA NA NA NA rs2743824 0.42 0.42 0.413 0.412939 0.4533 0.3998 0.3429 0.4622 0.3681 0.44 0.42 0.35 0.44 0.4104 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.479769 NA NA 0.410814 0.476396 ID=COSN166750;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.304 NA 2.725486 1388 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 1388 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 1388 16 1391871 1391871 C G intronic BAIAP3 NA NA NA intronic ENSG00000007516 NA NA NA NA NA 16p13.3 NA NA NA NA rs2369699 0.57 0.57 0.604 0.583067 0.4056 0.7798 0.3343 0.7201 0.5542 0.38 0.83 0.35 0.72 0.4656 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 -0.643465 NA NA 0.404513 0.680846 NA 0.58 NA 2.724287 1388 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 1388 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 1388 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 1388 15 52667552 52667552 G A exonic MYO5A NA synonymous SNV MYO5A:NM_000259:exon20:c.C2526T:p.I842I,MYO5A:NM_001142495:exon20:c.C2526T:p.I842I exonic ENSG00000197535 NA synonymous SNV ENSG00000197535:ENST00000356338:exon20:c.C2526T:p.I842I,ENSG00000197535:ENST00000358212:exon20:c.C2526T:p.I842I,ENSG00000197535:ENST00000399231:exon20:c.C2526T:p.I842I,ENSG00000197535:ENST00000399233:exon20:c.C2526T:p.I842I,ENSG00000197535:ENST00000553916:exon20:c.C2526T:p.I842I NA NA 15q21.2 NA NA NA NA rs2414145 0.87 0.87 0.861 0.844649 0.996 0.9633 0.9697 0.5242 0.911 1 0.96 0.97 0.52 0.9518 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.355639 NA NA 0.995273 0.617493 NA 0.891 NA 2.7235936 1388 10 7844195 7844195 C T intronic ATP5C1 NA NA NA intronic ENSG00000165629 NA NA NA NA NA 10p14 NA NA NA NA rs932971 0.42 0.42 0.407 0.461462 0.4125 0.3343 0.5086 0.4592 0.6125 0.42 0.31 0.49 0.49 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 0.316391 NA NA 0.422558 0.437131 ID=COSN163551;OCCURENCE=1(breast) 0.442 NA 2.723542 1388 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 1388 17 38031714 38031714 C T intronic ZPBP2 NA NA NA intronic ENSG00000186075 NA NA NA NA NA 17q12 NA NA NA NA rs10852936 0.37 0.37 0.357 0.334265 0.4722 0.2817 0.3516 0.2738 0.316 0.48 0.31 0.36 0.25 0.3834 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.173826 2.173826 NA 0.421482 0.252971 ID=COSN165416;OCCURENCE=1(breast),1(skin) 0.312 NA 2.722918 1388 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 1388 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 1388 2 101874442 101874442 C T intronic CNOT11 NA NA NA intronic ENSG00000158435 NA NA NA NA NA 2q11.2 NA NA NA NA rs6757365 0.43 0.43 0.387 0.396765 0.4364 0.5258 0.4654 0.2277 0.4029 0.44 0.54 0.46 0.24 0.4224 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.505881 NA NA 0.41907 0.276668 NA 0.312 NA 2.72213 1388 5 68525027 68525027 C T intronic MRPS36 NA NA NA intronic ENSG00000134056 NA NA NA NA NA 5q13.2 NA NA NA NA rs2932777 0.43 0.43 0.419 0.461062 0.4225 0.4623 0.4568 0.4024 0.5818 0.41 0.5 0.4 0.4 0.4391 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.343899 NA NA 0.417442 0.369269 NA 0.435 NA 2.720958 1388 9 137804830 137804830 G C intronic FCN1 NA NA NA intronic ENSG00000085265 NA NA NA NA NA 9q34.3 NA NA NA NA rs2070622 0.62 0.62 0.668 0.666733 0.6203 0.4673 0.4654 0.9085 0.7362 0.63 0.49 0.45 0.89 0.6588 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 0.056849 NA NA NA NA NA 0.696 NA 2.7209 1388 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 1388 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 1388 13 113333684 113333684 C T UTR5 C13orf35 NM_207440:c.-10C>T NA NA UTR5 ENSG00000197595 ENST00000356049:c.-10C>T NA NA NA NA 13q34 NA NA NA NA rs7338610 0.49 0.49 0.448 0.483027 0.5457 0.7361 0.4553 0.1581 0.6166 0.54 0.7 0.51 0.17 0.5295 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 -0.264939 NA NA 0.537907 0.224921 NA 0.478 NA 2.7202264 1388 15 79058923 79058923 G A exonic ADAMTS7 NA synonymous SNV ADAMTS7:NM_014272:exon19:c.C3330T:p.P1110P exonic ENSG00000136378 NA synonymous SNV ENSG00000136378:ENST00000388820:exon19:c.C3330T:p.P1110P NA NA 15q25.1 NA NA NA NA rs1809422 0.77 0.77 NA 0.947684 0.9791 0.9177 0.9496 0.9236 0.9775 0.8 0.7 0.8 0.76 0.975 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 -0.081405 NA NA 0.992446 0.943415 NA 0.297 NA 2.7201206 1388 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 1388 7 124499003 124499003 T A intronic POT1 NA NA NA intronic ENSG00000128513 NA NA NA NA NA 7q31.33 NA NA NA NA rs6959712 0.46 0.46 0.042 0.582468 0.5567 0.5099 0.5562 0.6483 0.6135 0.44 0.43 0.51 0.5 0.5901 0.51 NA NA 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 0.13407 0.183159 NA NA NA 2.71913 1388 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 1388 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 1388 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 1388 8 8869277 8869277 G A intronic ERI1 NA NA NA intronic ENSG00000104626 NA NA NA NA NA 8p23.1 NA NA NA NA rs28665409 0.33 0.33 0.307 0.313299 0.4662 0.003 0.281 0.4887 0.2618 0.48 0.01 0.35 0.48 0.3739 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.755887 1.755887 NA 0.441863 0.459927 NA 0.348 NA 2.718037 1388 2 227873028 227873028 A G intronic COL4A4 NA NA NA intronic ENSG00000081052 NA NA NA NA NA 2q36.3 NA NA NA NA rs13419076 0.46 0.46 0.432 0.515575 0.4205 0.4048 0.4755 0.6407 0.5869 0.42 0.39 0.47 0.59 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 -1.083228 NA NA 0.396639 0.572225 NA 0.493 NA 2.717961 1388 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 1388 11 14303282 14303282 T A intronic RRAS2 NA NA NA intronic ENSG00000133818 NA NA NA NA NA 11p15.2 NA NA NA NA rs2303972 0.34 0.34 0.314 0.338458 0.4195 0.3135 0.5173 0.1369 0.4264 0.42 0.3 0.48 0.15 0.4165 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.497938 NA NA 0.446553 0.204318 NA 0.275 NA 2.717447 1388 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 1388 18 5630531 5630531 G A intergenic EPB41L3,LOC645355 dist=86545;dist=118287 NA NA intergenic ENSG00000252572,ENSG00000252432 dist=51047;dist=31413 NA NA NA NA 18p11.31 NA NA NA NA rs4083186 0.93 0.93 0.9 0.911142 0.8678 0.9722 0.938 0.9629 0.8037 0.89 0.98 0.94 0.96 0.8831 0.98 0 D . . . . . . 1.000 P . . . . -1.054 T 0.000 T . -0.487 1.761 1.58 -0.090 0.205 4.522 -0.486792 NA NA 0.865143 0.953767 NA 0.449 NA 2.7172904 1388 9 113006420 113006420 A G UTR3 TXN NM_003329:c.*17T>C,NM_001244938:c.*17T>C NA NA UTR3 ENSG00000136810 ENST00000374517:c.*17T>C,ENST00000374515:c.*17T>C NA NA NA NA 9q31.3 NA NA NA NA rs5843 0.61 0.61 0.659 0.692292 0.4831 0.9028 0.7161 0.7118 0.6472 0.43 0.87 0.62 0.57 0.617 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 -0.303589 NA NA 0.515956 0.685649 NA 0.471 NA 2.7172774 1388 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 1388 7 80087981 80087981 A G downstream GNAT3 NA NA NA intronic ENSG00000135218 NA NA NA NA NA 7q21.11 NA NA NA NA rs2074673 0.47 0.47 0.454 0.47484 0.3201 0.7421 0.4539 0.441 0.4192 0.33 0.76 0.41 0.39 0.4773 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 0.488467 NA NA 0.319387 0.436952 NA 0.478 NA 2.7165463 1388 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 1388 1 16558838 16558838 C A intronic RSG1 NA NA NA intronic ENSG00000132881 NA NA NA NA NA 1p36.13 NA NA NA NA rs6700888 0.41 0.41 0.373 0.361022 0.4374 0.6736 0.3516 0.0492 0.3885 0.44 0.72 0.38 0.05 0.4502 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371102 NA NA 0.396423 0.120353 NA 0.217 NA 2.715977 1388 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 1388 14 65250939 65250939 A G intronic SPTB NA NA NA intronic ENSG00000070182 NA NA NA NA NA 14q23.3 NA NA NA NA rs229634 0.61 0.61 0.604 0.630791 0.3946 0.7718 0.4409 0.851 0.5654 0.4 0.81 0.42 0.84 0.4911 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 1.147931 NA NA 0.398837 0.770994 NA 0.486 NA 2.715463 1388 1 248845471 248845471 T C exonic OR14I1 NA synonymous SNV OR14I1:NM_001004734:exon1:c.A135G:p.A45A exonic ENSG00000189181 NA synonymous SNV ENSG00000189181:ENST00000342623:exon1:c.A135G:p.A45A NA NA 1q44 NA NA NA NA rs4575113 0.9 0.9 0.883 0.874002 0.996 1 0.9539 0.5507 0.999 1 1 0.96 0.6 0.961 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225501 NA NA 0.994302 0.608715 NA 0.841 NA 2.7153646 1388 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 1388 4 48148435 48148435 G A intronic TEC NA NA NA intronic ENSG00000135605 NA NA NA NA NA 4p12 NA NA NA NA rs3749503 0.36 0.36 0.351 0.308906 0.4264 0.2063 0.4207 0.3109 0.2117 0.43 0.24 0.43 0.34 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 -0.801781 NA NA 0.45407 0.319791 NA 0.29 NA 2.71503 1389 8 27880826 27880826 C T UTR3 NUGGC NM_001010906:c.*8G>A NA NA UTR3 ENSG00000189233 ENST00000413272:c.*8G>A,ENST00000341513:c.*8G>A NA NA NA NA 8p21.1 NA NA NA NA rs921597 0.36 0.36 0.314 0.350839 0.5557 0.1468 0.4481 0.2337 0.4397 0.57 0.14 0.47 0.21 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 0.831472 NA NA 0.568104 0.285258 NA 0.312 NA 2.7146294 1389 1 6196951 6196951 T A intronic CHD5 NA NA NA intronic ENSG00000116254 NA NA NA NA NA 1p36.31 NA NA NA NA rs2785582 0.51 0.51 0.471 0.517173 0.3946 0.7996 0.4683 0.3366 0.6309 0.39 0.81 0.47 0.36 0.4769 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 1.521206 1.521206 NA 0.414302 0.342261 NA 0.435 NA 2.714198 1389 1 17674402 17674402 C T intronic PADI4 NA NA NA intronic ENSG00000159339,ENSG00000269468 NA NA NA NA NA 1p36.13 NA NA NA NA rs2240336 0.51 0.51 0.474 0.499401 0.4145 0.6151 0.4669 0.5113 0.4744 0.42 0.64 0.44 0.53 0.4542 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04778 NA NA 0.417209 0.493645 NA 0.29 NA 2.714091 1389 13 33332648 33332648 G T intronic PDS5B NA NA NA intronic ENSG00000083642 NA NA NA NA NA 13q13.1 NA NA NA NA rs3752474 0.33 0.33 0.275 0.288938 0.4761 0.1409 0.3602 0.2905 0.1963 0.47 0.15 0.4 0.27 0.3763 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047922 NA NA 0.433733 0.306381 ID=COSN164458;OCCURENCE=1(breast) 0.391 NA 2.713867 1389 19 54711258 54711258 T G intronic RPS9 NA NA NA UTR3 ENSG00000170889 ENST00000402367:c.*825T>G,ENST00000441429:c.*864T>G NA NA NA NA 19q13.42 NA NA Name=8 NA rs2304523 0.68 0.68 0.663 0.667931 0.8429 0.504 0.7205 0.5416 0.7904 0.85 0.52 0.72 0.56 0.7669 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 1.016116 NA NA 0.843023 0.559691 NA 0.616 NA 2.7138437 1389 9 136804211 136804211 G A intronic VAV2 NA NA NA intronic ENSG00000160293 NA NA NA NA NA 9q34.2 NA Name=BCL3 NA NA rs2073886 0.73 0.73 0.733 0.702676 0.7694 0.7599 0.7075 0.5877 0.727 0.78 0.76 0.72 0.61 0.745 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 0.099867 NA NA 0.772093 0.617113 NA 0.623 NA 2.713507 1389 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 1389 7 150696008 150696008 A G intronic NOS3 NA NA NA intronic ENSG00000164867 NA NA NA NA NA 7q36.1 NA NA NA NA rs1007311 0.44 0.44 0.445 0.459065 0.3966 0.4633 0.3112 0.5877 0.4499 0.41 0.42 0.31 0.59 0.4456 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.350737 NA NA 0.444496 0.548975 NA 0.362 NA 2.713304 1389 5 129072943 129072943 G T UTR3 ADAMTS19 NM_133638:c.*32G>T NA NA ncRNA_UTR3 ENSG00000145808 NA NA NA Score=640;Name=lod=534 NA 5q23.3 NA NA NA NA rs1465686 0.96 0.96 0.963 0.953075 0.9274 1 0.9539 0.9841 0.8885 0.93 1 0.95 0.98 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 -0.043201 NA NA 0.926512 0.977531 NA 0.942 NA 2.712988 1389 6 119346010 119346010 T C intronic FAM184A NA NA NA ncRNA_intronic ENSG00000253194 NA NA NA NA NA 6q22.31 NA NA NA NA rs1775613 0.4 0.4 0.389 0.395168 0.5427 0.1052 0.4236 0.4879 0.3967 0.53 0.09 0.47 0.49 0.4943 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.044424 NA NA 0.583477 0.514892 NA 0.5 NA 2.7128563 1389 1 6196943 6196943 A G intronic CHD5 NA NA NA intronic ENSG00000116254 NA NA NA NA NA 1p36.31 NA NA NA NA rs2746066 0.51 0.51 0.475 0.516973 0.3946 0.7996 0.4683 0.3359 0.6309 0.39 0.81 0.47 0.36 0.4784 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 1.166849 NA NA 0.414535 0.342034 NA 0.435 NA 2.712465 1389 2 33335847 33335847 C T intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA NA NA NA rs218226 0.39 0.39 0.369 0.392372 0.4533 0.37 0.415 0.2837 0.4836 0.46 0.36 0.41 0.29 0.4137 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980215 NA NA 0.420581 0.299591 NA 0.428 NA 2.712419 1389 8 26481771 26481771 T C exonic DPYSL2 NA synonymous SNV DPYSL2:NM_001197293:exon4:c.T741C:p.S247S,DPYSL2:NM_001244604:exon4:c.T318C:p.S106S,DPYSL2:NM_001386:exon4:c.T426C:p.S142S exonic ENSG00000092964 NA synonymous SNV ENSG00000092964:ENST00000311151:exon4:c.T426C:p.S142S,ENSG00000092964:ENST00000521913:exon4:c.T318C:p.S106S,ENSG00000092964:ENST00000523027:exon4:c.T318C:p.S106S NA NA 8p21.2 NA NA NA NA rs327222 0.95 0.95 0.944 0.936701 0.994 0.9266 0.9265 0.8805 0.9714 1 0.94 0.95 0.88 0.9704 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.812997 NA NA 0.989884 0.901498 NA 0.942 NA 2.7123826 1389 9 135263573 135263573 G T exonic TTF1 NA synonymous SNV TTF1:NM_001205296:exon7:c.C720A:p.I240I,TTF1:NM_007344:exon8:c.C2265A:p.I755I exonic ENSG00000125482 NA synonymous SNV ENSG00000125482:ENST00000334270:exon8:c.C2265A:p.I755I NA NA 9q34.13 NA NA NA NA rs556386 0.91 0.91 0.895 0.901757 0.994 0.9722 0.9611 0.6914 0.9765 0.99 0.97 0.96 0.66 0.9666 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 -1.181303 NA NA 0.993953 0.735815 NA 0.906 NA 2.7121136 1389 7 5254227 5254227 C G exonic WIPI2 NA synonymous SNV WIPI2:NM_001033520:exon1:c.C96G:p.V32V,WIPI2:NM_001033519:exon3:c.C219G:p.V73V,WIPI2:NM_016003:exon3:c.C219G:p.V73V,WIPI2:NM_001033518:exon4:c.C273G:p.V91V,WIPI2:NM_015610:exon4:c.C273G:p.V91V exonic ENSG00000157954 NA synonymous SNV ENSG00000157954:ENST00000484262:exon1:c.C96G:p.V32V,ENSG00000157954:ENST00000382384:exon3:c.C219G:p.V73V,ENSG00000157954:ENST00000401525:exon3:c.C219G:p.V73V,ENSG00000157954:ENST00000288828:exon4:c.C273G:p.V91V,ENSG00000157954:ENST00000404704:exon4:c.C273G:p.V91V NA NA 7p22.1 NA NA NA NA rs4587243 0.99 0.99 0.993 0.994409 0.9831 1 0.9914 0.9992 0.9959 0.98 1 0.99 1 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 -0.024581 NA NA 0.984884 0.996369 NA 0.935 NA 2.7120826 1389 10 134040290 134040290 C A intronic STK32C NA NA NA intronic ENSG00000165752 NA NA NA NA NA 10q26.3 NA NA NA NA rs2306982 0.42 0.42 0.39 0.40635 0.4463 0.4256 0.5303 0.326 0.3661 0.44 0.41 0.48 0.34 0.4325 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.429927 NA NA 0.409302 0.352928 NA 0.391 NA 2.711898 1389 19 17301863 17301863 G A intronic MYO9B NA NA NA intronic ENSG00000099331 NA NA NA NA NA 19p13.11 NA NA NA NA rs962919 0.62 0.62 0.611 0.635982 0.3887 0.7173 0.7032 0.7791 0.5654 0.4 0.76 0.66 0.77 0.5024 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 -0.958807 NA NA 0.39714 0.702423 NA 0.667 NA 2.71176 1389 17 7400041 7400041 C T intronic POLR2A NA NA NA intronic ENSG00000181222 NA NA NA NA NA 17p13.1 NA NA Name=2 NA rs9890920 0.76 0.76 0.711 0.741014 0.7734 0.9187 0.8703 0.5499 0.6912 0.77 0.91 0.87 0.52 0.7603 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 -0.978521 NA NA 0.754651 0.594871 NA 0.667 NA 2.711649 1389 15 58253062 58253062 C T intronic ALDH1A2 NA NA NA intronic ENSG00000128918 NA NA NA NA NA 15q21.3 NA NA NA NA rs3784263 0.34 0.34 0.334 0.305911 0.4583 0.2083 0.3069 0.3661 0.1677 0.44 0.21 0.28 0.37 0.3757 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.083861 NA NA 0.45445 0.363595 NA 0.442 NA 2.71155 1389 1 175937540 175937540 C T ncRNA_exonic SCARNA3 NA NA NA ncRNA_exonic ENSG00000252906 NA NA NA Score=541;Name=lod=211 NA 1q25.1 NA NA NA NA rs4534339 0.95 0.95 0.935 0.9375 0.995 0.999 0.987 0.8048 0.9591 1 1 0.99 0.78 0.9733 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.633527 1.633527 NA 0.987946 0.807078 NA 0.928 NA 2.7104206 1389 2 74185876 74185876 A T UTR3 DGUOK NM_080918:c.*13A>T,NM_080916:c.*13A>T NA NA ncRNA_UTR3 ENSG00000114956 NA NA NA NA NA 2p13.1 NA NA NA NA rs4777 0.54 0.54 0.511 0.530751 0.6093 0.5258 0.5476 0.4584 0.5409 0.62 0.53 0.51 0.44 0.5858 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.927998 NA NA 0.594535 0.508398 NA 0.406 NA 2.710365 1389 15 60648214 60648214 T C intronic ANXA2 NA NA NA intronic ENSG00000182718 NA NA NA NA NA 15q22.2 NA Name=Pol2 NA NA rs12898604 0.75 0.75 0.716 0.779952 0.7575 0.6369 0.8948 0.9054 0.6994 0.74 0.55 0.88 0.89 0.7697 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 1.314822 1.314822 NA 0.762442 0.889923 ID=COSN164966;OCCURENCE=1(NS) 0.87 NA 2.710358 1389 14 105404384 105404384 T C UTR3 AHNAK2 NM_138420:c.*16A>G NA NA UTR3 ENSG00000185567 ENST00000557457:c.*16A>G,ENST00000333244:c.*16A>G NA NA NA NA 14q32.33 NA NA NA NA rs1048257 0.52 0.52 0.541 0.553514 0.5338 0.4107 0.5115 0.6377 0.637 0.53 0.38 0.55 0.65 0.5464 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 -0.06789 NA NA 0.542922 0.664941 ID=COSN164801;OCCURENCE=1(breast) 0.587 NA 2.7102114 1389 14 22322168 22322168 A G intergenic OR4E2,DAD1 dist=187930;dist=711639 NA NA downstream ENSG00000211787 NA NA NA NA NA 14q11.2 NA NA NA NA rs760003 0.43 0.43 0.428 0.451078 0.3777 0.376 0.5187 0.528 0.4519 0.37 0.38 0.5 0.51 0.4121 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.588946 NA NA NA NA NA 0.428 NA 2.7102 1389 1 6195493 6195493 G A intronic CHD5 NA NA NA intronic ENSG00000116254 NA NA NA NA NA 1p36.31 NA NA NA NA rs2250504 0.5 0.5 0.481 0.509984 0.3956 0.7956 0.464 0.3139 0.6309 0.39 0.8 0.46 0.33 0.4817 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 0.07397 NA NA 0.413023 0.312074 NA 0.428 NA 2.709677 1389 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 1389 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 1389 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 1389 6 38957771 38957771 T C intronic DNAH8 NA NA NA intronic ENSG00000124721 NA NA NA NA NA 6p21.2 NA NA NA NA rs3737095 0.35 0.35 0.338 0.328474 0.4443 0.252 0.3429 0.3116 0.3006 0.44 0.25 0.34 0.31 0.4003 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.761013 2.761013 NA 0.446977 0.332728 NA 0.37 NA 2.708423 1389 11 118651809 118651809 T C intronic DDX6 NA NA NA intronic ENSG00000110367 NA NA NA NA NA 11q23.3 NA NA NA NA rs555649 0.41 0.41 0.416 0.357428 0.4135 0.3492 0.5533 0.3457 0.1851 0.42 0.4 0.49 0.36 0.4592 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.953264 1.953264 NA 0.419071 0.316337 NA 0.326 NA 2.708229 1389 16 75281964 75281964 A C UTR5 BCAR1 NM_001170719:c.-7T>G NA NA UTR5 ENSG00000050820 ENST00000542031:c.-7T>G NA NA NA NA 16q23.1 NA NA NA NA rs1862737 0.53 0.53 0.461 0.507788 0.5388 0.5923 0.6902 0.3101 0.5266 0.54 0.57 0.64 0.37 0.5537 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121355 NA NA 0.533091 0.352679 NA 0.435 NA 2.7077424 1389 10 70992912 70992912 A T intronic HKDC1 NA NA NA intronic ENSG00000156510 NA NA NA NA NA 10q22.1 NA NA NA NA rs5030970 0.55 0.55 0.541 0.533946 0.4135 0.7361 0.4539 0.5545 0.4785 0.42 0.77 0.41 0.59 0.4646 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 0.164879 NA NA 0.414302 0.52634 NA 0.493 NA 2.707598 1389 1 204413299 204413299 G A intronic PIK3C2B NA NA NA intronic ENSG00000133056 NA NA NA NA NA 1q32.1 NA Name=STAT3 NA NA rs2292460 0.58 0.58 0.535 0.561502 0.7744 0.3869 0.7594 0.3608 0.6534 0.77 0.37 0.77 0.38 0.7081 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 2.810475 2.810475 NA 0.81 0.463686 NA NA NA 2.7075 1389 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 1389 9 138379002 138379002 T G exonic PPP1R26 NA synonymous SNV PPP1R26:NM_014811:exon4:c.T2646G:p.P882P exonic ENSG00000196422 NA synonymous SNV ENSG00000196422:ENST00000605660:exon1:c.T2646G:p.P882P,ENSG00000196422:ENST00000401470:exon3:c.T2646G:p.P882P,ENSG00000196422:ENST00000604351:exon3:c.T2646G:p.P882P,ENSG00000196422:ENST00000356818:exon4:c.T2646G:p.P882P,ENSG00000196422:ENST00000605286:exon4:c.T2646G:p.P882P NA NA 9q34.3 NA NA NA NA rs1975518 1 1 0.998 0.997804 0.992 1 1 0.9992 0.998 0.99 1 1 1 0.9871 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196765 NA NA 0.980226 0.996295 NA 0.949 NA 2.7073406 1389 9 138387483 138387483 G A intronic C9orf116 NA NA NA intronic ENSG00000160345 NA NA NA NA NA 9q34.3 NA NA NA NA rs2274650 0.52 0.52 0.518 0.511581 0.4215 0.8353 0.5 0.3638 0.4785 0.42 0.83 0.46 0.37 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 -0.320723 NA NA 0.403953 0.404675 NA 0.449 NA 2.706947 1389 14 77332367 77332367 C T exonic C14orf166B NA synonymous SNV C14orf166B:NM_194287:exon12:c.C1308T:p.P436P exonic ENSG00000100565 NA synonymous SNV ENSG00000100565:ENST00000393774:exon12:c.C1308T:p.P436P NA NA 14q24.3 NA NA NA NA rs1882844 0.92 0.92 0.93 0.916733 0.995 0.8948 0.8919 0.848 0.9693 0.99 0.9 0.92 0.84 0.9657 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.102541 NA NA 0.999045 0.877415 NA 0.928 NA 2.7069216 1389 20 3677357 3677357 T C exonic SIGLEC1 NA synonymous SNV SIGLEC1:NM_023068:exon10:c.A2559G:p.K853K exonic ENSG00000088827 NA synonymous SNV ENSG00000088827:ENST00000202578:exon10:c.A2559G:p.K853K,ENSG00000088827:ENST00000344754:exon10:c.A2559G:p.K853K NA NA 20p13 NA NA NA NA rs501538 0.99 0.99 0.995 0.994409 0.9851 1 0.9942 0.9992 0.9918 0.97 0.99 0.99 1 0.9891 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.235911 NA NA 0.985581 0.99773 NA 0.986 NA 2.7068856 1389 11 17111272 17111272 A G UTR3 PIK3C2A NM_002645:c.*13T>C NA NA UTR3 ENSG00000011405 ENST00000265970:c.*13T>C,ENST00000540361:c.*13T>C NA NA NA NA 11p15.1 NA NA NA NA rs10832733 0.63 0.63 0.635 0.632588 0.5 0.8115 0.6196 0.6248 0.6043 0.49 0.83 0.62 0.64 0.5893 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 -0.313998 NA NA 0.537378 0.617273 NA 0.71 NA 2.7066554 1389 7 540518 540518 T C intronic PDGFA NA NA NA intronic ENSG00000197461 NA NA NA NA NA 7p22.3 NA NA NA NA rs2070958 0.45 0.45 0.403 0.495807 0.4225 0.501 0.4539 0.497 0.5941 0.39 0.5 0.43 0.49 0.4627 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.699352 NA NA 0.409457 0.441008 NA 0.493 NA 2.705343 1389 13 28636084 28636084 G A exonic FLT3 NA synonymous SNV FLT3:NM_004119:exon3:c.C288T:p.D96D exonic ENSG00000122025 NA synonymous SNV ENSG00000122025:ENST00000241453:exon3:c.C288T:p.D96D,ENSG00000122025:ENST00000380982:exon3:c.C288T:p.D96D,ENSG00000122025:ENST00000380987:exon3:c.C288T:p.D96D,ENSG00000122025:ENST00000537084:exon3:c.C288T:p.D96D NA NA 13q12.2 NA NA NA NA rs7338903 0.96 0.96 0.955 0.958067 0.9891 0.996 0.9726 0.8707 0.9949 0.99 1 0.97 0.86 0.9827 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.729041 NA NA 0.989535 0.902179 NA 0.928 NA 2.7053316 1389 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 1390 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 1390 2 11738091 11738091 T C exonic GREB1 NA synonymous SNV GREB1:NM_014668:exon14:c.T2139C:p.H713H exonic ENSG00000196208 NA synonymous SNV ENSG00000196208:ENST00000432985:exon5:c.T1041C:p.H347H,ENSG00000196208:ENST00000234142:exon13:c.T2139C:p.H713H,ENSG00000196208:ENST00000381486:exon14:c.T2139C:p.H713H NA NA 2p25.1 NA NA NA NA rs1435547 0.94 0.94 0.926 0.916733 0.995 0.9692 0.9683 0.7572 0.9611 1 0.96 0.98 0.8 0.9722 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.228822 NA NA 0.995064 0.815124 NA 0.906 NA 2.7044026 1390 11 17415190 17415190 C G intronic ABCC8 NA NA NA intronic ENSG00000006071 NA NA NA NA NA 11p15.1 NA NA NA NA rs4148646 0.72 0.72 0.762 0.73103 0.6501 0.6587 0.696 0.9592 0.6053 0.66 0.62 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 -0.831817 NA NA 0.645506 0.91763 NA 0.754 NA 2.704394 1390 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 1390 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 1390 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 1390 15 57924586 57924586 T A intronic GCOM1,MYZAP NA NA NA intronic ENSG00000137878,ENSG00000255529,ENSG00000263155 NA NA NA NA NA 15q21.3 NA NA NA NA rs2733593 0.42 0.42 0.378 0.406749 0.4185 0.5675 0.4222 0.239 0.4448 0.4 0.55 0.46 0.28 0.4393 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.695778 NA NA 0.438141 0.291058 NA 0.428 NA 2.704059 1390 6 160505199 160505199 C G exonic IGF2R NA synonymous SNV IGF2R:NM_000876:exon40:c.C6051G:p.L2017L exonic ENSG00000197081 NA synonymous SNV ENSG00000197081:ENST00000356956:exon40:c.C6051G:p.L2017L NA NA 6q25.3 NA NA NA NA rs614754 0.99 0.99 0.995 0.996006 0.9841 1 0.9957 0.9992 1 0.99 1 0.99 1 0.9918 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.351747 NA NA 0.98686 0.995234 NA 1 NA 2.7039066 1390 2 150432377 150432377 C G intronic MMADHC NA NA NA intronic ENSG00000168288 NA NA NA NA NA 2q23.2 NA Name=MafK_(ab50322),MafK_(SC-477) NA NA rs12232959 0.65 0.65 0.621 0.621605 0.7604 0.8651 0.6599 0.2118 0.7546 0.76 0.87 0.69 0.19 0.754 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 -0.449422 NA NA 0.782201 0.311502 NA 0.507 NA 2.703399 1390 6 130164764 130164764 G A intronic TMEM244 NA NA NA intronic ENSG00000203756 NA NA NA NA NA 6q22.33 NA NA Name=28 NA rs9321190 0.61 0.61 0.645 0.622804 0.7704 0.3621 0.5101 0.7042 0.7096 0.76 0.35 0.58 0.73 0.7146 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 -0.456819 NA NA 0.811744 0.727417 NA 0.674 NA 2.703256 1390 2 85571710 85571710 A G intronic RETSAT NA NA NA intronic ENSG00000042445 NA NA NA NA NA 2p11.2 NA NA Name=4 NA rs4832171 0.88 0.88 0.876 0.91254 0.7425 0.999 0.8689 0.9818 0.9356 0.75 1 0.84 0.99 0.8138 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.164236 NA NA 0.740465 0.933954 NA 0.826 NA 2.703235 1390 19 12551715 12551715 A C intronic ZNF443 NA NA NA intronic ENSG00000180855,ENSG00000268870,ENSG00000269755 NA NA NA NA NA 19p13.2 NA Name=TAF1,Pol2-4H8,ELF1_(SC-631),HEY1,Pol2(phosphoS2),Pol2,TAF7_(SQ-8),AP-2gamma,TR4,TBP,AP-2alpha,GTF2F1_(RAP-74),c-Myc,Sin3Ak-20,STAT3 NA NA rs11881297 0.65 0.65 0.6 0.652556 0.7763 0.4524 0.7363 0.6505 0.6748 0.78 0.45 0.73 0.63 0.7322 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 0.978541 NA NA 0.788837 0.662733 NA 0.601 NA 2.702663 1390 19 10265312 10265312 T C exonic DNMT1 NA synonymous SNV DNMT1:NM_001379:exon20:c.A1734G:p.T578T,DNMT1:NM_001130823:exon21:c.A1782G:p.T594T exonic ENSG00000130816 NA synonymous SNV ENSG00000130816:ENST00000340748:exon20:c.A1734G:p.T578T,ENSG00000130816:ENST00000540357:exon20:c.A1734G:p.T578T,ENSG00000130816:ENST00000359526:exon21:c.A1782G:p.T594T NA NA 19p13.2 NA NA NA NA rs721186 0.99 0.99 0.994 0.995807 0.9871 1 0.9914 0.9985 1 0.99 1 0.99 1 0.991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814415 NA NA 0.986047 0.996823 NA 1 NA 2.7025196 1390 8 8643582 8643582 C G intronic MFHAS1 NA NA NA intronic ENSG00000147324 NA NA NA NA NA 8p23.1 NA NA Name=9 NA rs2271340 0.8 0.8 0.804 0.815895 0.7406 0.9196 0.8026 0.7738 0.8528 0.75 0.92 0.78 0.76 0.7978 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 1.220059 NA NA 0.759186 0.7803 NA 0.877 NA 2.702414 1390 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 1390 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 1390 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 1390 11 66469032 66469032 T C intronic SPTBN2 NA NA NA intronic ENSG00000173898 NA NA NA NA NA 11q13.2 NA NA Name=2 NA rs532439 0.74 0.74 0.7 0.753395 0.7475 0.8244 0.8112 0.5862 0.8712 0.76 0.82 0.82 0.55 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 0.284137 NA NA 0.771246 0.603182 NA 0.717 NA 2.701754 1390 1 22922560 22922560 G A intronic EPHA8 NA NA NA intronic ENSG00000070886 NA NA NA NA NA 1p36.12 NA NA NA NA rs209691 0.48 0.48 0.501 0.547923 0.4264 0.2887 0.5331 0.8011 0.6084 0.43 0.29 0.52 0.76 0.4667 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 -0.619176 NA NA 0.405233 0.741035 NA 0.616 NA 2.701667 1390 2 239010577 239010577 G C intronic ESPNL NA NA NA intronic ENSG00000144488 NA NA NA NA NA 2q37.3 NA NA NA NA rs1562333 0.26 0.26 0.232 0.215056 0.4781 0.1349 0.2997 0.0318 0.2147 0.47 0.12 0.33 0.03 0.3941 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.016529 NA NA 0.426426 0.08485 NA 0.362 NA 2.701374 1390 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 1390 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 1390 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 1390 19 55501579 55501579 A C intronic NLRP2 NA NA NA intronic ENSG00000022556 NA NA NA NA NA 19q13.42 NA NA NA NA rs1654495 0.37 0.37 0.367 0.338259 0.4543 0.1786 0.4669 0.3222 0.3139 0.45 0.19 0.49 0.37 0.3952 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.295343 NA NA 0.450233 0.342488 NA 0.391 NA 2.700267 1390 12 4554548 4554548 G C exonic FGF6 NA synonymous SNV FGF6:NM_020996:exon1:c.C189G:p.A63A exonic ENSG00000111241 NA synonymous SNV ENSG00000111241:ENST00000228837:exon1:c.C189G:p.A63A NA NA 12p13.32 NA NA NA NA rs7358740 0.93 0.93 0.915 0.903155 0.998 1 0.9669 0.652 1 1 1 0.96 0.71 0.9721 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.756932 NA NA 0.997093 0.726963 NA 0.891 NA 2.6994736 1390 3 78663956 78663956 G A intronic ROBO1 NA NA NA intronic ENSG00000169855 NA NA NA NA NA 3p12.3 NA NA NA NA rs1027832 0.33 0.33 0.272 0.353435 0.4344 0.3284 0.5014 0.171 0.4376 0.41 0.3 0.48 0.14 0.4516 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.392508 NA NA 0.414748 0.205705 NA 0.268 NA 2.699252 1390 X 152728155 152728155 T C intronic HAUS7 NA NA NA intronic ENSG00000183479,ENSG00000213397 NA NA NA NA NA Xq28 NA NA NA NA rs2980032 0.51 0.51 0.49126 NA NA NA NA NA NA 0.71 0.35 0.62 0.31 0.6157 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.131972 NA NA 0.685345 0.391395 NA 0.391 NA 2.698955 1390 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 1390 1 154516571 154516571 T C exonic TDRD10 NA synonymous SNV TDRD10:NM_001098475:exon9:c.T636C:p.A212A,TDRD10:NM_182499:exon9:c.T636C:p.A212A exonic ENSG00000163239 NA synonymous SNV ENSG00000163239:ENST00000368480:exon9:c.T636C:p.A212A,ENSG00000163239:ENST00000368482:exon9:c.T636C:p.A212A NA NA 1q21.3 NA NA NA NA rs6678164 0.93 0.93 0.923 0.900359 0.997 1 0.9784 0.6362 1 1 1 0.99 0.7 0.9728 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.817851 NA NA 0.999186 0.720608 NA 0.913 NA 2.6976806 1390 22 50547247 50547247 A G exonic MOV10L1 NA synonymous SNV MOV10L1:NM_001164104:exon5:c.A717G:p.A239A,MOV10L1:NM_001164105:exon5:c.A657G:p.A219A,MOV10L1:NM_018995:exon5:c.A717G:p.A239A exonic ENSG00000073146 NA synonymous SNV ENSG00000073146:ENST00000262794:exon5:c.A717G:p.A239A,ENSG00000073146:ENST00000395858:exon5:c.A717G:p.A239A,ENSG00000073146:ENST00000540615:exon5:c.A657G:p.A219A,ENSG00000073146:ENST00000545383:exon6:c.A717G:p.A239A NA NA 22q13.33 NA NA NA NA rs138217 0.99 0.99 0.994 0.996206 0.9881 1 0.9957 0.9992 0.9969 0.99 1 1 1 0.9931 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.759864 NA NA 0.989419 0.998184 NA 0.993 NA 2.6960476 1391 14 50195679 50195679 A G exonic KLHDC1 NA synonymous SNV KLHDC1:NM_172193:exon7:c.A603G:p.T201T exonic ENSG00000197776 NA synonymous SNV ENSG00000197776:ENST00000557128:exon3:c.A216G:p.T72T,ENSG00000197776:ENST00000359332:exon7:c.A603G:p.T201T NA NA 14q21.3 NA NA NA NA rs4301946 0.93 0.93 0.91 0.907748 0.999 1 0.9741 0.6649 1 1 1 0.98 0.72 0.9747 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.538913 NA NA 0.998256 0.725148 NA 0.913 NA 2.6947106 1391 3 52643307 52643307 A G intronic PBRM1 NA NA NA intronic ENSG00000163939 NA NA NA NA NA 3p21.1 NA NA NA NA rs3733045 0.49 0.49 0.489 0.447883 0.4304 0.4276 0.5144 0.5582 0.2904 0.44 0.49 0.53 0.56 0.4445 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.502583 NA NA 0.430565 0.517257 NA 0.384 NA 2.694535 1391 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 1391 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 1391 8 382957 382957 T C intronic FBXO25 NA NA NA intronic ENSG00000147364 NA NA NA NA NA 8p23.3 NA NA NA NA rs6998464 0.5 0.5 0.525 0.535942 0.4205 0.504 0.4193 0.7557 0.4734 0.4 0.47 0.42 0.73 0.4618 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 2.438118 2.438118 NA 0.4235 0.686324 NA 0.486 NA 2.6942 1391 10 33018351 33018351 G C exonic C10orf68 NA synonymous SNV C10orf68:NM_024688:exon10:c.G792C:p.T264T exonic ENSG00000150076 NA synonymous SNV ENSG00000150076:ENST00000375025:exon8:c.G792C:p.T264T,ENSG00000150076:ENST00000375028:exon8:c.G720C:p.T240T,ENSG00000150076:ENST00000302316:exon10:c.G792C:p.T264T,ENSG00000150076:ENST00000375030:exon13:c.G816C:p.T272T NA NA 10p11.22 NA NA NA NA rs1414548 0.92 0.92 0.908 0.916534 0.997 1 0.9539 0.7103 1 1 1 0.94 0.67 0.9769 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.863798 NA NA 0.998599 0.74577 NA 0.899 NA 2.6941676 1391 4 15964573 15964573 A G exonic FGFBP2 NA synonymous SNV FGFBP2:NM_031950:exon1:c.T180C:p.R60R exonic ENSG00000137441 NA synonymous SNV ENSG00000137441:ENST00000259989:exon1:c.T180C:p.R60R NA NA 4p15.32 NA NA NA NA rs758328 0.94 0.94 0.944 0.923522 0.997 1 0.9683 0.7292 1 1 1 0.95 0.77 0.9773 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.024315 NA NA 0.998256 0.77281 NA 0.877 NA 2.6941106 1391 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 1391 1 150531170 150531170 C T exonic ADAMTSL4 NA synonymous SNV ADAMTSL4:NM_025008:exon15:c.C2604T:p.H868H exonic ENSG00000143382 NA synonymous SNV ENSG00000143382:ENST00000369041:exon15:c.C2604T:p.H868H NA NA 1q21.3 NA NA NA NA rs10749658 0.93 0.93 0.925 0.921526 0.997 1 0.9841 0.7133 1 1 1 0.99 0.72 0.9768 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04708 NA NA 0.999302 0.753291 NA 0.906 NA 2.6935646 1391 19 42092815 42092815 T A splicing CEACAM21 NM_033543:exon7:c.880-2T>A,NM_001098506:exon7:c.883-2T>A NA NA splicing ENSG00000007129 ENST00000407170:exon8:c.499-2T>A,ENST00000457737:exon7:c.963-2T>A,ENST00000187608:exon7:c.880-2T>A,ENST00000401445:exon7:c.883-2T>A NA NA NA NA 19q13.2 NA NA NA NA rs3745936 0.66 0.66 0.638 0.646765 0.7734 0.6042 0.7853 0.4879 0.6769 0.77 0.6 0.77 0.48 0.7476 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 -0.359085 NA NA 0.786083 0.550298 NA 0.667 NA 2.692917 1391 8 68995633 68995633 A G intronic PREX2 NA NA NA ncRNA_intronic ENSG00000255206 NA NA NA NA NA 8q13.2 NA NA NA NA rs1030753 0.52 0.52 0.525 0.522165 0.5706 0.4732 0.4524 0.5227 0.5716 0.58 0.47 0.48 0.54 0.5252 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.004454 2.004454 NA 0.544767 0.536995 NA 0.478 NA 2.6927663 1391 2 227886925 227886925 C T intronic COL4A4 NA NA NA intronic ENSG00000081052 NA NA NA NA NA 2q36.3 NA NA NA NA rs3752896 0.41 0.41 0.387 0.448482 0.4334 0.4058 0.4683 0.4024 0.5562 0.44 0.4 0.46 0.37 0.455 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098105 NA NA 0.419116 0.394421 NA 0.449 NA 2.692484 1391 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 1391 7 107414419 107414419 A G exonic SLC26A3 NA synonymous SNV SLC26A3:NM_000111:exon17:c.T1953C:p.L651L exonic ENSG00000091138 NA synonymous SNV ENSG00000091138:ENST00000340010:exon17:c.T1953C:p.L651L NA NA 7q31.1 NA NA NA NA rs41669 1 1 0.997 0.998003 0.993 0.999 0.9986 1 0.999 0.99 1 1 1 0.9936 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.737043 NA NA 0.98814 0.998411 NA 1 NA 2.6919266 1391 9 36276857 36276857 A G intronic GNE NA NA NA intronic ENSG00000122705,ENSG00000159921 NA NA NA NA NA 9p13.3 NA NA Name=108 NA rs7875447 0.66 0.66 0.672 0.651757 0.7763 0.4921 0.6311 0.7133 0.6196 0.76 0.47 0.64 0.73 0.7275 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 0.094383 NA NA 0.804299 0.744579 NA 0.812 NA 2.691901 1391 19 14561722 14561722 A G exonic PKN1 NA synonymous SNV PKN1:NM_002741:exon6:c.A771G:p.L257L,PKN1:NM_213560:exon6:c.A789G:p.L263L exonic ENSG00000123143 NA synonymous SNV ENSG00000123143:ENST00000242783:exon6:c.A771G:p.L257L,ENSG00000123143:ENST00000342216:exon6:c.A789G:p.L263L NA NA 19p13.12 NA NA NA NA rs8107892 1 1 0.996 0.996406 0.9881 1 0.9942 0.9985 1 0.99 1 0.99 1 0.994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.251819 NA NA 0.992811 0.997997 NA 0.978 NA 2.6917556 1391 22 36872750 36872750 T G intronic TXN2 NA NA NA intronic ENSG00000100348 NA NA NA NA NA 22q12.3 Score=1000;Name=V$STAT3_02 NA NA NA rs2281082 0.65 0.65 0.618 0.612819 0.7843 0.2262 0.7968 0.77 0.4918 0.78 0.26 0.8 0.78 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 1.019421 NA NA 0.804302 0.773037 NA 0.725 NA 2.691498 1391 14 88934651 88934651 G A intronic PTPN21 NA NA NA intronic ENSG00000042317,ENSG00000070778 NA NA NA NA NA 14q31.3 NA NA NA NA rs366476 0.48 0.48 0.455 0.478834 0.4215 0.5536 0.5389 0.4478 0.4601 0.42 0.59 0.52 0.43 0.465 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.496301 NA NA 0.422209 0.434408 NA 0.478 NA 2.691291 1391 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 1391 1 197390368 197390368 A G exonic CRB1 NA synonymous SNV CRB1:NM_001193640:exon4:c.A1074G:p.L358L,CRB1:NM_001257966:exon6:c.A1410G:p.L470L,CRB1:NM_201253:exon6:c.A1410G:p.L470L,CRB1:NM_001257965:exon8:c.A1203G:p.L401L exonic ENSG00000134376 NA synonymous SNV ENSG00000134376:ENST00000367399:exon4:c.A1074G:p.L358L,ENSG00000134376:ENST00000543483:exon5:c.A507G:p.L169L,ENSG00000134376:ENST00000367400:exon6:c.A1410G:p.L470L,ENSG00000134376:ENST00000484075:exon6:c.A1410G:p.L470L,ENSG00000134376:ENST00000538660:exon6:c.A1410G:p.L470L,ENSG00000134376:ENST00000535699:exon8:c.A1203G:p.L401L NA NA 1q31.3 NA NA NA NA rs3902057 0.93 0.93 0.917 0.919728 0.999 1 0.9813 0.7065 1 1 1 0.98 0.71 0.9781 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.388089 NA NA 0.998605 0.769632 NA 0.928 NA 2.6909616 1391 11 70253586 70253586 T C intronic CTTN NA NA NA intronic ENSG00000085733 NA NA NA NA NA 11q13.3 NA NA NA NA rs569732 0.44 0.44 0.439 0.485823 0.4384 0.1181 0.4496 0.8585 0.4356 0.43 0.13 0.44 0.83 0.4417 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 -0.444838 NA NA 0.428971 0.780682 NA 0.514 NA 2.690929 1391 11 94861491 94861491 C T intronic ENDOD1 NA NA NA intronic ENSG00000149218 NA NA NA NA NA 11q21 NA NA NA NA rs599281 0.45 0.45 0.42 0.416334 0.4443 0.6438 0.4856 0.239 0.3436 0.43 0.62 0.5 0.25 0.435 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.141882 NA NA 0.430177 0.276821 NA 0.399 NA 2.690523 1391 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 1391 19 1053299 1053299 C T intronic ABCA7 NA NA NA intronic ENSG00000064687 NA NA NA NA NA 19p13.3 NA NA NA NA rs3829687 0.46 0.46 0.456 0.476837 0.4205 0.376 0.451 0.6051 0.4836 0.44 0.4 0.46 0.56 0.4679 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.198699 NA NA 0.421176 0.550457 NA 0.377 NA 2.690424 1391 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 1391 4 5966905 5966905 C T intergenic MIR378D1,JAKMIP1 dist=41850;dist=61021 NA NA intronic ENSG00000181215 NA NA NA NA NA 4p16.2 NA NA NA NA rs6857900 0.28 0.28 0.258 0.272564 0.3489 0.1131 0.3876 0.3033 0.2352 0.35 0.11 0.36 0.3 0.304 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.00012 NA NA 0.323953 0.332501 NA 0.283 NA 2.6898137 1391 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 1391 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 1391 12 52709032 52709032 T C intronic KRT83 NA NA NA intronic ENSG00000170523 NA NA NA NA NA 12q13.13 NA NA NA NA rs3741721 0.7 0.7 0.731 0.711462 0.6441 0.6776 0.585 0.8714 0.6892 0.64 0.67 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 -0.149176 NA NA 0.666248 0.87211 NA 0.63 NA 2.689652 1391 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 1391 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 1391 18 66504093 66504093 A C exonic CCDC102B NA synonymous SNV CCDC102B:NM_024781:exon2:c.A93C:p.A31A,CCDC102B:NM_001093729:exon4:c.A93C:p.A31A exonic ENSG00000150636 NA synonymous SNV ENSG00000150636:ENST00000584156:exon1:c.A93C:p.A31A,ENSG00000150636:ENST00000319445:exon2:c.A93C:p.A31A,ENSG00000150636:ENST00000358653:exon2:c.A93C:p.A31A,ENSG00000150636:ENST00000360242:exon2:c.A93C:p.A31A,ENSG00000150636:ENST00000581520:exon2:c.A93C:p.A31A,ENSG00000150636:ENST00000582371:exon3:c.A93C:p.A31A,ENSG00000150636:ENST00000578970:exon4:c.A93C:p.A31A,ENSG00000150636:ENST00000584775:exon4:c.A93C:p.A31A NA NA 18q22.1 NA NA NA NA rs485613 0.93 0.93 0.913 0.920927 1 1 0.9784 0.7118 1 1 1 0.98 0.7 0.9783 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.681613 NA NA 0.999153 0.768057 NA 0.891 NA 2.6892136 1391 12 21797029 21797029 A G exonic LDHB NA synonymous SNV LDHB:NM_001174097:exon4:c.T261C:p.T87T,LDHB:NM_002300:exon4:c.T261C:p.T87T exonic ENSG00000111716 NA synonymous SNV ENSG00000111716:ENST00000350669:exon4:c.T261C:p.T87T,ENSG00000111716:ENST00000396075:exon4:c.T261C:p.T87T,ENSG00000111716:ENST00000396076:exon4:c.T261C:p.T87T,ENSG00000111716:ENST00000450584:exon5:c.T261C:p.T87T,ENSG00000111716:ENST00000539782:exon5:c.T261C:p.T87T NA NA 12p12.1 NA NA NA NA rs1650294 0.97 0.97 0.957 0.952276 0.996 1 0.9942 0.8328 0.9898 1 1 0.99 0.88 0.9854 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.230612 NA NA 0.997093 0.870404 NA 0.964 NA 2.6881736 1391 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 1391 19 55832427 55832427 T G intronic TMEM150B NA NA NA UTR5 ENSG00000180061 ENST00000326652:c.-23A>C,ENST00000586609:c.-23A>C NA NA NA NA 19q13.42 NA NA NA NA rs10412726 0.4 0.4 0.407 0.437101 0.495 0.1032 0.4957 0.5741 0.4949 0.49 0.07 0.52 0.57 0.4796 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.550091 NA NA 0.504173 0.572745 NA 0.449 NA 2.6878937 1391 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 1391 4 83788139 83788139 C A intronic SEC31A NA NA NA intronic ENSG00000138674 NA NA NA NA NA 4q21.22 NA NA Name=17 NA rs2290739 0.73 0.73 0.702 0.71246 0.7694 0.7411 0.8415 0.6377 0.6339 0.76 0.74 0.8 0.64 0.7603 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 1.159618 NA NA 0.782558 0.650477 NA 0.775 NA 2.687742 1391 14 24975435 24975435 G T exonic CMA1 NA synonymous SNV CMA1:NM_001836:exon4:c.C399A:p.S133S exonic ENSG00000092009 NA synonymous SNV ENSG00000092009:ENST00000206446:exon3:c.C66A:p.S22S,ENSG00000092009:ENST00000250378:exon4:c.C399A:p.S133S NA NA 14q12 NA NA NA NA rs5249 0.96 0.96 0.953 0.927117 1 1 0.9741 0.7375 1 1 1 0.98 0.82 0.9801 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.214219 NA NA 0.998837 0.797095 NA 0.942 NA 2.6877296 1391 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 1391 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 1391 10 96970361 96970361 A C intronic C10orf129 NA NA NA intronic ENSG00000173124 NA NA NA NA NA 10q23.33 NA NA NA NA rs16872 0.34 0.34 0.336 0.360024 0.4503 0.0456 0.2896 0.5219 0.4223 0.44 0.05 0.33 0.52 0.407 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.577387 NA NA 0.456512 0.521562 NA 0.261 NA 2.686188 1391 8 2813083 2813083 G C intronic CSMD1 NA NA NA intronic ENSG00000183117 NA NA NA NA NA 8p23.2 NA NA NA NA rs4875856 0.32 0.32 0.276 0.272364 0.4573 0.2232 0.3415 0.0862 0.3354 0.47 0.22 0.4 0.13 0.3972 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.304515 NA NA 0.459744 0.146711 NA 0.239 NA 2.685756 1391 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 1392 11 18159169 18159169 A G exonic MRGPRX3 NA synonymous SNV MRGPRX3:NM_054031:exon3:c.A420G:p.S140S exonic ENSG00000179826 NA synonymous SNV ENSG00000179826:ENST00000531264:exon2:c.A420G:p.S140S,ENSG00000179826:ENST00000396275:exon3:c.A420G:p.S140S NA NA 11p15.1 NA NA NA NA rs2468839 0.96 0.96 0.953 0.954473 0.997 1 0.9899 0.8351 1 1 1 0.99 0.82 0.986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.350719 NA NA 0.999068 0.855682 NA 0.957 NA 2.6845986 1392 3 46718298 46718298 A G intronic ALS2CL NA NA NA intronic ENSG00000178038 NA NA NA NA NA 3p21.31 Score=794;Name=V$ER_Q6 NA NA NA rs6806400 0.79 0.79 0.765 0.821286 0.7604 0.6964 0.8069 0.9599 0.8354 0.75 0.67 0.82 0.95 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 -0.839279 NA NA 0.763256 0.918747 NA 0.79 NA 2.684444 1392 13 111154058 111154058 T A exonic COL4A2 NA synonymous SNV COL4A2:NM_001846:exon41:c.T3804A:p.P1268P exonic ENSG00000134871 NA synonymous SNV ENSG00000134871:ENST00000360467:exon41:c.T3804A:p.P1268P NA NA 13q34 NA NA NA NA rs439831 0.94 0.94 0.928 0.939497 1 1 0.9856 0.7784 1 1 1 0.99 0.76 0.9839 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.123931 NA NA 0.998539 0.838156 NA 0.978 NA 2.6842276 1392 13 111154061 111154061 T C exonic COL4A2 NA synonymous SNV COL4A2:NM_001846:exon41:c.T3807C:p.G1269G exonic ENSG00000134871 NA synonymous SNV ENSG00000134871:ENST00000360467:exon41:c.T3807C:p.G1269G NA NA 13q34 NA NA NA NA rs409858 0.94 0.94 0.931 0.939497 1 1 0.9856 0.7784 1 1 1 0.99 0.76 0.9839 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.826987 NA NA 0.998541 0.837881 NA 0.978 NA 2.6842256 1392 13 113818900 113818900 A G exonic PROZ NA synonymous SNV PROZ:NM_003891:exon5:c.A447G:p.T149T,PROZ:NM_001256134:exon6:c.A513G:p.T171T exonic ENSG00000126231 NA synonymous SNV ENSG00000126231:ENST00000375547:exon5:c.A447G:p.T149T,ENSG00000126231:ENST00000342783:exon6:c.A513G:p.T171T NA NA 13q34 NA NA NA NA rs564081 0.96 0.96 0.956 0.946685 0.999 1 0.9669 0.8162 1 1 1 0.97 0.84 0.9845 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.089777 NA NA 0.998953 0.842941 NA 0.928 NA 2.6842136 1392 19 8563456 8563456 C G exonic PRAM1 NA synonymous SNV PRAM1:NM_032152:exon2:c.G1236C:p.A412A exonic ENSG00000133246 NA synonymous SNV ENSG00000133246:ENST00000255612:exon2:c.G1236C:p.A412A,ENSG00000133246:ENST00000423345:exon2:c.G1236C:p.A412A NA NA 19p13.2 NA NA NA NA rs2910435 1 1 0.994 0.998403 0.995 1 0.9971 0.9992 1 0.99 1 0.99 1 0.9951 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.356573 NA NA 0.992454 0.998922 NA 0.797 NA 2.6841126 1392 14 88411947 88411947 T C exonic GALC NA synonymous SNV GALC:NM_001201401:exon13:c.A1551G:p.T517T,GALC:NM_000153:exon14:c.A1620G:p.T540T,GALC:NM_001201402:exon14:c.A1542G:p.T514T exonic ENSG00000054983 NA synonymous SNV ENSG00000054983:ENST00000555000:exon9:c.A987G:p.T329T,ENSG00000054983:ENST00000393568:exon13:c.A1551G:p.T517T,ENSG00000054983:ENST00000261304:exon14:c.A1620G:p.T540T,ENSG00000054983:ENST00000393569:exon14:c.A1542G:p.T514T,ENSG00000054983:ENST00000544807:exon14:c.A1452G:p.T484T NA NA 14q31.3 NA NA NA NA rs367327 0.94 0.94 0.932 0.942692 1 0.9315 0.9841 0.8495 0.9918 1 0.94 0.99 0.82 0.9832 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.113653 NA NA 0.99939 0.877119 NA 0.949 NA 2.6840766 1392 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 1392 13 109793720 109793720 A C exonic MYO16 NA synonymous SNV MYO16:NM_001198950:exon32:c.A5160C:p.A1720A,MYO16:NM_015011:exon32:c.A5094C:p.A1698A exonic ENSG00000041515 NA synonymous SNV ENSG00000041515:ENST00000357550:exon31:c.A5094C:p.A1698A,ENSG00000041515:ENST00000356711:exon32:c.A5094C:p.A1698A NA NA 13q33.3 NA NA NA NA rs7986595 0.96 0.96 0.954 0.95008 1 0.999 0.9885 0.8177 1 1 1 0.99 0.84 0.9838 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679249 NA NA 0.99906 0.832646 NA 0.978 NA 2.6838066 1392 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 1392 3 47452087 47452087 G A exonic PTPN23 NA synonymous SNV PTPN23:NM_015466:exon20:c.G2799A:p.P933P exonic ENSG00000076201 NA synonymous SNV ENSG00000076201:ENST00000431726:exon19:c.G2421A:p.P807P,ENSG00000076201:ENST00000265562:exon20:c.G2799A:p.P933P NA NA 3p21.31 NA NA NA NA rs900689 0.96 0.96 0.963 0.954872 0.998 1 0.9813 0.8404 1 1 1 0.98 0.84 0.9867 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.328339 NA NA 0.998254 0.858992 NA 0.029 NA 2.6837126 1392 3 119367390 119367390 T C exonic POPDC2 NA synonymous SNV POPDC2:NM_022135:exon3:c.A726G:p.S242S exonic ENSG00000121577 NA synonymous SNV ENSG00000121577:ENST00000264231:exon3:c.A726G:p.S242S,ENSG00000121577:ENST00000341124:exon3:c.A726G:p.S242S,ENSG00000121577:ENST00000468801:exon3:c.A726G:p.S242S,ENSG00000121577:ENST00000493094:exon3:c.A726G:p.S242S,ENSG00000121577:ENST00000538678:exon3:c.A726G:p.S242S NA NA 3q13.33 NA NA NA NA rs2688643 0.96 0.96 0.942 0.94349 1 1 0.9784 0.7973 1 1 1 0.99 0.84 0.9841 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272508 NA NA 0.99907 0.841807 NA 0.913 NA 2.6834966 1392 15 34640378 34640378 T C exonic NUTM1 NA synonymous SNV NUTM1:NM_175741:exon2:c.T225C:p.D75D exonic ENSG00000184507 NA synonymous SNV ENSG00000184507:ENST00000333756:exon2:c.T225C:p.D75D,ENSG00000184507:ENST00000438749:exon2:c.T279C:p.D93D,ENSG00000184507:ENST00000537011:exon3:c.T309C:p.D103D NA NA 15q14 NA NA NA NA rs430083 0.96 0.96 0.952 0.939696 1 1 0.9798 0.7821 1 1 1 0.98 0.84 0.9844 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.460309 NA NA 0.998953 0.839391 NA 0.957 NA 2.6833136 1392 1 204413297 204413297 C T intronic PIK3C2B NA NA NA intronic ENSG00000133056 NA NA NA NA NA 1q32.1 NA Name=STAT3 NA NA rs2292459 0.62 0.62 0.588 0.610823 0.7753 0.494 0.7723 0.4236 0.7004 0.77 0.49 0.78 0.43 0.7286 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 1.233317 1.233317 NA 0.812791 0.510894 NA 0.029 NA 2.683309 1392 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 1392 19 11541685 11541685 G A intronic CCDC151 NA NA NA intronic ENSG00000198003 NA NA NA NA NA 19p13.2 NA NA NA NA rs34095 0.39 0.39 0.384 0.360423 0.4304 0.4712 0.4856 0.1256 0.4029 0.43 0.5 0.46 0.15 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 -0.751844 NA NA 0.460803 0.178311 NA 0.355 NA 2.683097 1392 3 129696041 129696041 A G exonic TRH NA synonymous SNV TRH:NM_007117:exon3:c.A711G:p.R237R exonic ENSG00000170893 NA synonymous SNV ENSG00000170893:ENST00000302649:exon3:c.A711G:p.R237R,ENSG00000170893:ENST00000507066:exon3:c.A699G:p.R233R NA NA 3q22.1 NA NA NA NA rs5663 0.96 0.96 0.933 0.958067 0.999 1 0.9741 0.8555 1 1 1 0.97 0.83 0.9867 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.273603 NA NA 0.99801 0.864237 NA 0.942 NA 2.6829566 1392 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 1392 15 88679785 88679785 G A exonic NTRK3 NA synonymous SNV NTRK3:NM_001007156:exon8:c.C678T:p.N226N,NTRK3:NM_001012338:exon8:c.C678T:p.N226N,NTRK3:NM_001243101:exon8:c.C678T:p.N226N,NTRK3:NM_002530:exon8:c.C678T:p.N226N exonic ENSG00000140538 NA synonymous SNV ENSG00000140538:ENST00000540489:exon6:c.C678T:p.N226N,ENSG00000140538:ENST00000542733:exon6:c.C384T:p.N128N,ENSG00000140538:ENST00000557856:exon6:c.C678T:p.N226N,ENSG00000140538:ENST00000558676:exon6:c.C678T:p.N226N,ENSG00000140538:ENST00000317501:exon7:c.C678T:p.N226N,ENSG00000140538:ENST00000355254:exon7:c.C678T:p.N226N,ENSG00000140538:ENST00000357724:exon7:c.C678T:p.N226N,ENSG00000140538:ENST00000360948:exon7:c.C678T:p.N226N,ENSG00000140538:ENST00000394480:exon8:c.C678T:p.N226N NA NA 15q25.3 NA NA NA NA rs1863480 1 1 0.999 0.998203 0.993 1 0.9986 0.9992 1 0.99 1 1 1 0.9967 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.054855 NA NA 0.994185 0.999091 NA 1 NA 2.6827816 1392 2 11752635 11752635 T C exonic GREB1 NA synonymous SNV GREB1:NM_014668:exon19:c.T3021C:p.I1007I exonic ENSG00000196208 NA synonymous SNV ENSG00000196208:ENST00000396123:exon2:c.T15C:p.I5I,ENSG00000196208:ENST00000234142:exon18:c.T3021C:p.I1007I,ENSG00000196208:ENST00000381486:exon19:c.T3021C:p.I1007I NA NA 2p25.1 NA NA NA NA rs2304399 0.98 0.98 0.977 0.976438 0.996 0.9762 0.987 0.9501 0.9847 1 0.97 0.99 0.97 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 -0.616879 NA NA 0.997226 0.960709 NA 0.971 NA 2.6826406 1392 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 1392 1 152193547 152193547 G A exonic HRNR NA synonymous SNV HRNR:NM_001009931:exon3:c.C558T:p.S186S exonic ENSG00000197915 NA synonymous SNV ENSG00000197915:ENST00000368801:exon3:c.C558T:p.S186S NA NA 1q21.3 NA NA NA NA rs6587653 0.96 0.96 0.937 0.942292 0.999 1 0.9841 0.7905 1 1 1 0.99 0.81 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 0.091848 NA NA 0.999651 0.854063 NA 0.986 NA 2.6822156 1392 18 43247784 43247784 C T intronic SLC14A2 NA NA NA intronic ENSG00000132874 NA NA NA NA NA 18q12.3 NA NA NA NA rs9964193 0.38 0.38 0.325 0.363818 0.4304 0.3641 0.4712 0.2345 0.3937 0.44 0.34 0.48 0.24 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 -1.319151 NA NA 0.446628 0.284158 ID=COSN165644;OCCURENCE=1(NS) 0.348 NA 2.682072 1392 1 248685253 248685253 T C exonic OR2G6 NA synonymous SNV OR2G6:NM_001013355:exon1:c.T306C:p.Y102Y exonic ENSG00000188558 NA synonymous SNV ENSG00000188558:ENST00000343414:exon1:c.T306C:p.Y102Y NA NA 1q44 NA NA NA NA rs9727474 0.96 0.96 0.941 0.951877 1 1 0.9899 0.823 1 1 1 0.99 0.83 0.9857 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.366091 NA NA 0.999302 0.851112 NA 0.92 NA 2.6816646 1392 21 45107518 45107518 A G exonic RRP1B NA synonymous SNV RRP1B:NM_015056:exon13:c.A1263G:p.P421P exonic ENSG00000160208 NA synonymous SNV ENSG00000160208:ENST00000340648:exon13:c.A1263G:p.P421P NA NA 21q22.3 NA NA NA NA rs7279959 0.96 0.96 0.956 0.96845 1 0.8452 1 1 0.998 1 0.83 1 1 0.9852 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.275998 NA NA 0.999883 0.999086 NA 0.949 NA 2.6815836 1392 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 1392 4 5754544 5754544 T C intronic EVC NA NA NA intronic ENSG00000072840 NA NA NA NA NA 4p16.2 NA NA NA NA rs899691 0.35 0.35 0.311 0.321486 0.4652 0.3234 0.4654 0.1634 0.2832 0.47 0.3 0.44 0.15 0.4 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.008674 NA NA 0.453478 0.217885 NA 0.297 NA 2.681322 1392 19 58455381 58455381 C T exonic ZNF256 NA synonymous SNV ZNF256:NM_005773:exon2:c.G81A:p.E27E exonic ENSG00000152454 NA synonymous SNV ENSG00000152454:ENST00000282308:exon2:c.G81A:p.E27E NA NA 19q13.43 NA NA NA NA rs257652 0.99 0.99 0.999 0.992612 0.993 0.9792 0.987 1 1 0.99 0.98 0.98 1 0.993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.145121 NA NA 0.999419 0.999773 NA 1 NA 2.6812476 1392 11 104819327 104819327 T C exonic CASP4 NA synonymous SNV CASP4:NM_001225:exon6:c.A858G:p.L286L,CASP4:NM_033306:exon6:c.A690G:p.L230L exonic ENSG00000196954 NA synonymous SNV ENSG00000196954:ENST00000393150:exon6:c.A690G:p.L230L,ENSG00000196954:ENST00000444739:exon6:c.A858G:p.L286L NA NA 11q22.3 NA NA NA NA rs9507 0.96 0.96 0.95 0.949281 1 1 0.9827 0.8169 1 1 1 0.98 0.83 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 0.069542 NA NA 0.999651 0.850817 NA 0.928 NA 2.6812156 1392 16 5061085 5061085 A C intronic SEC14L5 NA NA NA ncRNA_exonic ENSG00000267072 NA NA NA NA NA 16p13.3 NA Name=CTCF_(SC-5916),USF2,USF-1,CTCF,Rad21 NA NA rs2908669 0.93 0.93 0.924 0.937899 0.8787 0.9921 0.9438 0.9478 0.9254 0.88 0.99 0.94 0.94 0.9007 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 2.298314 2.298314 NA 0.872745 0.9335 NA 0.978 NA 2.6811883 1392 12 4736690 4736690 A G exonic AKAP3 NA synonymous SNV AKAP3:NM_006422:exon4:c.T1378C:p.L460L exonic ENSG00000111254 NA synonymous SNV ENSG00000111254:ENST00000228850:exon4:c.T1378C:p.L460L,ENSG00000111254:ENST00000545990:exon5:c.T1378C:p.L460L NA NA 12p13.32 NA NA NA NA rs10774251 0.98 0.98 0.98 0.972644 0.998 1 0.9856 0.9054 1 1 1 0.99 0.94 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 -1.93944 NA NA 0.997907 0.907172 NA 0.978 NA 2.6810596 1392 3 186954285 186954285 A G exonic MASP1 NA synonymous SNV MASP1:NM_139125:exon11:c.T1374C:p.P458P exonic ENSG00000127241 NA synonymous SNV ENSG00000127241:ENST00000392472:exon10:c.T1035C:p.P345P,ENSG00000127241:ENST00000296280:exon11:c.T1374C:p.P458P NA NA 3q27.3 NA NA NA NA rs710452 0.96 0.96 0.948 0.952077 1 1 0.9885 0.8245 1 1 1 0.99 0.84 0.9869 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.345409 NA NA 0.998837 0.867 NA 0.986 NA 2.6809296 1392 12 51135275 51135275 T C exonic DIP2B NA synonymous SNV DIP2B:NM_173602:exon37:c.T4431C:p.I1477I exonic ENSG00000066084 NA synonymous SNV ENSG00000066084:ENST00000301180:exon37:c.T4431C:p.I1477I NA NA 12q13.12 NA NA NA NA rs1866422 0.96 0.96 0.958 0.959864 0.998 1 0.9827 0.8585 1 1 1 0.98 0.86 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 -0.716256 NA NA 0.999535 0.879709 NA 0.978 NA 2.6807316 1392 20 61941747 61941747 A G exonic COL20A1 NA synonymous SNV COL20A1:NM_020882:exon11:c.A1278G:p.G426G exonic ENSG00000101203 NA synonymous SNV ENSG00000101203:ENST00000422202:exon10:c.A1299G:p.G433G,ENSG00000101203:ENST00000326996:exon11:c.A1278G:p.G426G,ENSG00000101203:ENST00000358894:exon11:c.A1278G:p.G426G,ENSG00000101203:ENST00000435874:exon11:c.A1299G:p.G433G NA NA 20q13.33 NA NA NA NA rs4809287 0.94 0.94 0.946 0.953474 1 1 0.9813 0.8336 1 0.97 0.99 0.97 0.83 0.9878 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.806403 NA NA 0.998181 0.872494 NA 0.92 NA 2.6806856 1392 16 425298 425298 G T intronic TMEM8A NA NA NA intronic ENSG00000129925 NA NA NA NA NA 16p13.3 NA NA NA NA rs11648905 0.4 0.4 0.407 0.444888 0.4235 0.2956 0.3703 0.4713 0.638 0.43 0.28 0.38 0.52 0.4496 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.414888 NA NA 0.446279 0.462971 NA 0.312 NA 2.680621 1392 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 1392 7 20418926 20418926 T C intronic ITGB8 NA NA NA intronic ENSG00000105855 NA NA NA NA NA 7p21.1 NA NA NA NA rs1042277 0.39 0.39 0.385 0.335663 0.4742 0.4147 0.255 0.3064 0.2086 0.48 0.43 0.29 0.29 0.3981 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.097999 2.097999 NA 0.447326 0.34158 ID=COSM150244;OCCURENCE=1(stomach) 0.275 NA 2.680374 1392 10 50531604 50531604 T C exonic C10orf71 NA synonymous SNV C10orf71:NM_001135196:exon3:c.T1014C:p.L338L exonic ENSG00000177354 NA synonymous SNV ENSG00000177354:ENST00000323868:exon3:c.T1014C:p.L338L,ENSG00000177354:ENST00000374144:exon3:c.T1014C:p.L338L NA NA 10q11.23 NA NA NA NA rs7093235 0.97 0.97 0.958 0.957069 0.999 1 0.9784 0.8495 1 1 1 0.98 0.87 0.9885 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.78365 NA NA 0.999278 0.878372 NA 0.804 NA 2.6798886 1392 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 1392 8 2048811 2048811 A C exonic MYOM2 NA synonymous SNV MYOM2:NM_003970:exon20:c.A2586C:p.V862V exonic ENSG00000036448 NA synonymous SNV ENSG00000036448:ENST00000523438:exon7:c.A861C:p.V287V,ENSG00000036448:ENST00000262113:exon20:c.A2586C:p.V862V NA NA 8p23.3 NA NA NA NA rs4876227 0.96 0.96 0.943 0.954273 1 1 0.9899 0.8321 1 1 1 0.99 0.83 0.9874 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.157213 NA NA 0.999767 0.870177 NA 0.935 NA 2.6794996 1392 9 95780465 95780465 A G exonic FGD3 NA synonymous SNV FGD3:NM_001083536:exon11:c.A1323G:p.T441T,FGD3:NM_033086:exon11:c.A1323G:p.T441T exonic ENSG00000127084 NA synonymous SNV ENSG00000127084:ENST00000538555:exon3:c.A132G:p.T44T,ENSG00000127084:ENST00000467786:exon10:c.A1323G:p.T441T,ENSG00000127084:ENST00000337352:exon11:c.A1323G:p.T441T,ENSG00000127084:ENST00000375482:exon11:c.A1323G:p.T441T,ENSG00000127084:ENST00000416701:exon11:c.A1323G:p.T441T NA NA 9q22.31 NA NA NA NA rs7048975 1 1 0.997 0.998802 0.995 1 1 0.9992 1 0.99 1 1 1 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 -0.895112 NA NA 0.996503 0.999745 NA 0.993 NA 2.6794636 1392 4 1818594 1818594 C T exonic LETM1 NA synonymous SNV LETM1:NM_012318:exon12:c.G1791A:p.K597K exonic ENSG00000168924 NA synonymous SNV ENSG00000168924:ENST00000302787:exon12:c.G1791A:p.K597K NA NA 4p16.3 NA NA NA NA rs9328763 0.96 0.96 0.957 0.960663 0.999 1 0.9914 0.8563 1 1 1 1 0.84 0.9888 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.185302 NA NA 0.999419 0.883795 NA 0.964 NA 2.6794476 1392 1 3394456 3394456 T C exonic ARHGEF16 NA synonymous SNV ARHGEF16:NM_014448:exon11:c.T1491C:p.S497S exonic ENSG00000130762 NA synonymous SNV ENSG00000130762:ENST00000413250:exon6:c.T603C:p.S201S,ENSG00000130762:ENST00000378371:exon8:c.T627C:p.S209S,ENSG00000130762:ENST00000378373:exon9:c.T627C:p.S209S,ENSG00000130762:ENST00000378378:exon11:c.T1491C:p.S497S NA NA 1p36.32 NA NA NA NA rs4638054 0.97 0.97 0.961 0.970647 0.998 1 0.9928 0.8971 0.9959 1 1 0.99 0.89 0.9903 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.930886 NA NA 0.999066 0.908341 NA 0.884 NA 2.6793006 1392 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 1392 13 113965176 113965176 C A exonic LAMP1 NA synonymous SNV LAMP1:NM_005561:exon4:c.C556A:p.R186R exonic ENSG00000185896 NA synonymous SNV ENSG00000185896:ENST00000332556:exon4:c.C556A:p.R186R NA NA 13q34 NA NA NA NA rs9577503 0.98 0.98 0.986 0.979233 0.997 1 0.9914 0.9281 1 1 1 0.98 0.95 0.9916 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.992517 NA NA 0.998953 0.945657 NA 0.87 NA 2.6791136 1392 11 66100152 66100152 T C exonic RIN1 NA synonymous SNV RIN1:NM_004292:exon10:c.A1947G:p.E649E exonic ENSG00000174791 NA synonymous SNV ENSG00000174791:ENST00000424433:exon9:c.A1632G:p.E544E,ENSG00000174791:ENST00000530056:exon9:c.A1449G:p.E483E,ENSG00000174791:ENST00000311320:exon10:c.A1947G:p.E649E NA NA 11q13.2 NA NA NA NA rs1784030 0.98 0.98 0.974 0.967452 0.998 1 0.9856 0.8858 1 1 1 0.99 0.91 0.991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.70595 NA NA 0.998719 0.91242 NA 0.942 NA 2.6789476 1392 1 111773830 111773830 A T intronic CHI3L2 NA NA NA intronic ENSG00000064886 NA NA NA NA NA 1p13.3 NA NA NA NA rs2147789 0.42 0.42 0.373 0.411342 0.4513 0.5565 0.3343 0.2806 0.4519 0.46 0.53 0.38 0.27 0.4311 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.276107 1.276107 NA 0.438837 0.300726 NA 0.37 NA 2.678763 1392 10 47087608 47087608 T C exonic NPY4R NA synonymous SNV NPY4R:NM_005972:exon3:c.T825C:p.A275A exonic ENSG00000204174 NA synonymous SNV ENSG00000204174:ENST00000395716:exon2:c.T825C:p.A275A,ENSG00000204174:ENST00000374312:exon3:c.T825C:p.A275A NA NA 10q11.22 NA NA NA NA rs1936339 0.97 0.97 0.972 0.964657 1 0.997 0.9899 0.8737 1 1 1 0.99 0.89 0.989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.532906 NA NA 0.999186 0.887653 NA 0.826 NA 2.6784806 1392 19 5260878 5260878 T C intronic PTPRS NA NA NA intronic ENSG00000105426 NA NA NA NA NA 19p13.3 NA NA NA NA rs36016542 0.68 0.68 NA 0.678115 0.665 0.7897 0.6902 0.6309 0.6319 0.65 0.78 0.68 0.59 0.6567 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 1.863156 1.863156 NA NA NA NA 0.051 NA 2.6783 1392 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 1392 15 100269796 100269796 A G exonic LYSMD4 NA synonymous SNV LYSMD4:NM_152449:exon6:c.T426C:p.S142S exonic ENSG00000183060 NA synonymous SNV ENSG00000183060:ENST00000409796:exon3:c.T423C:p.S141S,ENSG00000183060:ENST00000332728:exon4:c.T423C:p.S141S,ENSG00000183060:ENST00000545021:exon4:c.T45C:p.S15S,ENSG00000183060:ENST00000344791:exon6:c.T426C:p.S142S NA NA 15q26.3 NA NA NA NA rs6598264 0.97 0.97 0.966 0.965455 1 1 0.9928 0.8737 0.999 1 1 0.99 0.89 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 -1.103891 NA NA 0.999186 0.882433 NA 0.971 NA 2.6775806 1392 3 160142618 160142618 A C intronic SMC4 NA NA NA intronic ENSG00000113810,ENSG00000248710 NA NA NA NA NA 3q25.33 NA NA NA NA rs11718121 0.33 0.33 0.323 0.30611 0.4374 0.1726 0.3862 0.261 0.3129 0.45 0.18 0.4 0.28 0.4091 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.34542 1.34542 NA 0.476047 0.268951 NA 0.326 NA 2.677453 1392 12 53096913 53096913 G A exonic KRT77 NA synonymous SNV KRT77:NM_175078:exon1:c.C306T:p.T102T exonic ENSG00000189182 NA synonymous SNV ENSG00000189182:ENST00000341809:exon1:c.C306T:p.T102T,ENSG00000189182:ENST00000553168:exon1:c.C306T:p.T102T NA NA 12q13.13 NA NA NA NA rs1625862 0.98 0.98 0.968 0.973442 0.999 1 0.9942 0.9032 1 1 1 0.99 0.92 0.9907 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.876317 NA NA 0.999535 0.903087 NA 0.978 NA 2.6774316 1392 11 60635091 60635091 T C exonic ZP1 NA synonymous SNV ZP1:NM_207341:exon1:c.T57C:p.V19V exonic ENSG00000149506 NA synonymous SNV ENSG00000149506:ENST00000278853:exon1:c.T57C:p.V19V NA NA 11q12.2 NA NA NA NA rs550479 0.97 0.97 0.961 0.963259 0.999 1 0.9899 0.8669 1 1 1 0.99 0.86 0.991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.211452 NA NA 0.999418 0.912619 NA 0.87 NA 2.6772486 1392 4 8228894 8228894 T C exonic SH3TC1 NA synonymous SNV SH3TC1:NM_018986:exon12:c.T1473C:p.D491D exonic ENSG00000125089 NA synonymous SNV ENSG00000125089:ENST00000245105:exon12:c.T1473C:p.D491D,ENSG00000125089:ENST00000539824:exon12:c.T1245C:p.D415D NA NA 4p16.1 NA NA NA NA rs1292647 0.97 0.97 0.961 0.965455 0.999 0.999 0.9856 0.8782 1 1 1 0.99 0.88 0.991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.419586 NA NA 0.999651 0.907584 NA 0.928 NA 2.6770156 1392 19 15733195 15733195 T G intronic CYP4F8 NA NA NA ncRNA_intronic ENSG00000186526 NA NA NA NA NA 19p13.12 NA NA NA NA rs2072601 0.61 0.61 0.545 0.586062 0.5626 0.6806 0.7133 0.584 0.4254 0.58 0.67 0.7 0.55 0.5671 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 -0.384024 NA NA 0.526775 0.560412 NA 0.58 NA 2.6768583 1392 4 7684662 7684662 T C intronic SORCS2 NA NA NA intronic ENSG00000184985 NA NA NA NA NA 4p16.1 NA NA NA NA rs4689822 0.54 0.54 0.1 0.642572 0.6203 0.7014 0.647 0.6959 0.5297 0.49 0.6 0.56 0.53 0.6239 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.765725 NA NA 0.079074 0.0975 NA NA NA 2.676726 1392 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 1392 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 1392 5 37364443 37364443 C T exonic NUP155 NA synonymous SNV NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L exonic ENSG00000113569 NA synonymous SNV ENSG00000113569:ENST00000231498:exon2:c.G201A:p.L67L,ENSG00000113569:ENST00000381843:exon2:c.G24A:p.L8L,ENSG00000113569:ENST00000513532:exon2:c.G201A:p.L67L NA NA 5p13.2 NA NA NA NA rs217852 0.98 0.98 0.972 0.969649 1 1 0.9957 0.8873 1 1 1 1 0.9 0.9905 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997047 NA NA 0.999884 0.900817 NA 0.942 NA 2.6762826 1392 10 135347397 135347397 T C exonic CYP2E1 NA synonymous SNV CYP2E1:NM_000773:exon6:c.T963C:p.I321I exonic ENSG00000130649 NA synonymous SNV ENSG00000130649:ENST00000418356:exon4:c.T552C:p.I184I,ENSG00000130649:ENST00000421586:exon5:c.T702C:p.I234I,ENSG00000130649:ENST00000252945:exon6:c.T963C:p.I321I,ENSG00000130649:ENST00000463117:exon8:c.T963C:p.I321I NA NA 10q26.3 NA NA NA NA rs915909 0.97 0.97 0.974 0.972843 1 1 0.9942 0.9002 1 1 1 0.99 0.89 0.9912 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.047745 NA NA 0.999186 0.899001 NA 0.971 NA 2.6762806 1392 3 183823576 183823576 T C exonic HTR3E NA synonymous SNV HTR3E:NM_001256614:exon5:c.T822C:p.S274S,HTR3E:NM_198314:exon5:c.T744C:p.S248S,HTR3E:NM_182589:exon6:c.T789C:p.S263S,HTR3E:NM_198313:exon6:c.T699C:p.S233S,HTR3E:NM_001256613:exon7:c.T744C:p.S248S exonic ENSG00000186038 NA synonymous SNV ENSG00000186038:ENST00000436361:exon5:c.T744C:p.S248S,ENSG00000186038:ENST00000440596:exon5:c.T822C:p.S274S,ENSG00000186038:ENST00000335304:exon6:c.T789C:p.S263S,ENSG00000186038:ENST00000425359:exon6:c.T699C:p.S233S,ENSG00000186038:ENST00000415389:exon7:c.T744C:p.S248S NA NA 3q27.1 NA NA NA NA rs4912524 1 1 1 0.999201 0.997 1 1 0.9992 1 1 1 1 1 0.9973 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.578856 NA NA 0.996163 0.999319 NA 1 NA 2.6762036 1392 9 138518010 138518010 A G exonic GLT6D1 NA synonymous SNV GLT6D1:NM_182974:exon4:c.T162C:p.P54P exonic ENSG00000204007 NA synonymous SNV ENSG00000204007:ENST00000371763:exon4:c.T162C:p.P54P NA NA 9q34.3 NA NA NA NA rs1333240 0.97 0.97 0.965 0.971645 0.999 0.9921 0.9942 0.9024 1 1 0.99 0.99 0.91 0.992 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.944756 NA NA 0.99951 0.913877 NA 0.978 NA 2.6761566 1392 11 34909833 34909833 A C intronic APIP NA NA NA intronic ENSG00000149089 NA NA NA NA NA 11p13 NA NA NA NA rs61752923 NA NA NA 0.579473 0.6839 0.7371 0.5692 0.3533 0.6227 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 NA 0.28781 NA NA NA NA NA NA NA 2.6761 1392 2 202469361 202469361 C T exonic ALS2CR11 NA synonymous SNV ALS2CR11:NM_001168216:exon2:c.G291A:p.T97T,ALS2CR11:NM_001168217:exon2:c.G291A:p.T97T,ALS2CR11:NM_001168221:exon2:c.G291A:p.T97T,ALS2CR11:NM_152525:exon2:c.G291A:p.T97T exonic ENSG00000155754 NA synonymous SNV ENSG00000155754:ENST00000286195:exon2:c.G291A:p.T97T,ENSG00000155754:ENST00000439140:exon2:c.G291A:p.T97T,ENSG00000155754:ENST00000439802:exon2:c.G291A:p.T97T,ENSG00000155754:ENST00000450242:exon2:c.G291A:p.T97T NA NA 2q33.1 NA NA NA NA rs12474206 0.87 0.87 0.975 0.977636 0.999 1 0.9928 0.9206 0.999 0.86 0.91 0.93 0.78 0.9936 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257139 NA NA 0.998023 0.943259 NA 0.986 NA 2.6760436 1392 3 167077691 167077691 T A exonic ZBBX NA synonymous SNV ZBBX:NM_001199201:exon8:c.A399T:p.V133V,ZBBX:NM_001199202:exon8:c.A312T:p.V104V,ZBBX:NM_024687:exon8:c.A399T:p.V133V exonic ENSG00000169064 NA synonymous SNV ENSG00000169064:ENST00000307529:exon5:c.A399T:p.V133V,ENSG00000169064:ENST00000392767:exon5:c.A399T:p.V133V,ENSG00000169064:ENST00000455345:exon7:c.A399T:p.V133V,ENSG00000169064:ENST00000474464:exon7:c.A399T:p.V133V,ENSG00000169064:ENST00000392764:exon8:c.A312T:p.V104V,ENSG00000169064:ENST00000392766:exon8:c.A399T:p.V133V NA NA 3q26.1 NA NA NA NA rs4257551 1 1 1 0.999401 0.999 1 0.9986 1 0.999 1 1 1 1 0.9971 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.395422 NA NA 0.994605 0.999179 NA 0.942 NA 2.6759616 1392 15 65350743 65350743 C G intronic RASL12 NA NA NA intronic ENSG00000103710 NA NA NA NA NA 15q22.31 NA NA NA NA rs2232759 0.32 0.32 0.338 0.357827 0.4384 0.1984 0.3141 0.2693 0.59 0.44 0.2 0.31 0.28 0.4212 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.325808 NA NA 0.464643 0.270559 NA 0.333 NA 2.675757 1392 2 197118729 197118729 C T exonic HECW2 NA synonymous SNV HECW2:NM_020760:exon19:c.G3444A:p.S1148S exonic ENSG00000138411 NA synonymous SNV ENSG00000138411:ENST00000409111:exon17:c.G2376A:p.S792S,ENSG00000138411:ENST00000260983:exon19:c.G3444A:p.S1148S NA NA 2q32.3 NA NA NA NA rs4850690 0.97 0.97 0.975 0.972244 1 1 0.9899 0.9002 1 1 1 0.99 0.9 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 0.567836 NA NA 0.999651 0.905129 NA 0.971 NA 2.6757156 1392 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 1392 1 154108387 154108387 G A exonic NUP210L NA synonymous SNV NUP210L:NM_001159484:exon7:c.C912T:p.N304N,NUP210L:NM_207308:exon7:c.C912T:p.N304N exonic ENSG00000143552 NA synonymous SNV ENSG00000143552:ENST00000271854:exon7:c.C912T:p.N304N,ENSG00000143552:ENST00000368559:exon7:c.C912T:p.N304N NA NA 1q21.3 NA NA NA NA rs3001361 0.97 0.97 0.97 0.96905 1 1 0.9942 0.8858 1 1 1 0.99 0.88 0.9915 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.035809 NA NA 0.999635 0.914324 NA 0.949 NA 2.6755316 1392 11 55798152 55798152 G A exonic OR5AS1 NA synonymous SNV OR5AS1:NM_001001921:exon1:c.G258A:p.L86L exonic ENSG00000181785 NA synonymous SNV ENSG00000181785:ENST00000313555:exon1:c.G258A:p.L86L NA NA 11q12.1 NA NA NA NA rs1482011 0.97 0.97 0.965 0.971446 1 1 0.9885 0.8979 1 1 1 0.99 0.9 0.9919 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.20322 NA NA 0.999302 0.917083 NA 0.978 NA 2.6754646 1392 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 1392 12 57619209 57619209 C G exonic NXPH4 NA synonymous SNV NXPH4:NM_007224:exon2:c.C606G:p.P202P exonic ENSG00000182379 NA synonymous SNV ENSG00000182379:ENST00000349394:exon2:c.C606G:p.P202P NA NA 12q13.3 NA NA NA NA rs7979061 0.97 0.97 0.966 0.967452 1 1 0.9928 0.8805 1 0.99 1 0.99 0.9 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 -1.224674 NA NA 0.998791 0.939072 NA 0.232 NA 2.6753756 1392 4 115544714 115544714 A G exonic UGT8 NA synonymous SNV UGT8:NM_003360:exon1:c.A678G:p.P226P,UGT8:NM_001128174:exon2:c.A678G:p.P226P exonic ENSG00000174607 NA synonymous SNV ENSG00000174607:ENST00000394511:exon1:c.A678G:p.P226P,ENSG00000174607:ENST00000310836:exon2:c.A678G:p.P226P NA NA 4q26 NA NA NA NA rs6851610 0.98 0.98 0.98 0.982428 1 1 0.9942 0.9365 1 1 1 0.99 0.93 0.9927 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082456 NA NA 0.998605 0.926237 NA 0.855 NA 2.6753616 1392 13 32915005 32915005 G C exonic BRCA2 NA synonymous SNV BRCA2:NM_000059:exon11:c.G6513C:p.V2171V exonic ENSG00000139618 NA synonymous SNV ENSG00000139618:ENST00000380152:exon11:c.G6513C:p.V2171V,ENSG00000139618:ENST00000544455:exon11:c.G6513C:p.V2171V NA NA 13q13.1 NA NA NA NA rs206076 0.97 0.97 0.967 0.973642 0.999 1 0.9971 0.9024 1 1 1 0.99 0.89 0.993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.302524 NA NA 0.999419 0.928734 NA 0.978 NA 2.6752476 1392 13 32913055 32913055 A G exonic BRCA2 NA synonymous SNV BRCA2:NM_000059:exon11:c.A4563G:p.L1521L exonic ENSG00000139618 NA synonymous SNV ENSG00000139618:ENST00000380152:exon11:c.A4563G:p.L1521L,ENSG00000139618:ENST00000544455:exon11:c.A4563G:p.L1521L NA NA 13q13.1 NA NA NA NA rs206075 0.97 0.97 0.969 0.974042 0.999 1 0.9971 0.9039 1 1 1 0.99 0.89 0.9931 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.45812 NA NA 0.999418 0.929609 NA 0.978 NA 2.6751486 1392 3 29804509 29804509 T C intronic RBMS3 NA NA NA intronic ENSG00000144642 NA NA NA NA NA 3p24.1 NA NA NA NA rs1371840 0.46 0.46 0.465 0.485823 0.4414 0.3363 0.4323 0.6679 0.4775 0.44 0.27 0.47 0.69 0.4437 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 -0.619793 NA NA 0.439884 0.619891 NA 0.667 NA 2.675016 1393 13 33635835 33635835 T C exonic KL NA synonymous SNV KL:NM_004795:exon4:c.T2619C:p.N873N exonic ENSG00000133116 NA synonymous SNV ENSG00000133116:ENST00000380099:exon4:c.T2619C:p.N873N NA NA 13q13.1 NA NA NA NA rs649964 0.99 0.99 0.979 0.976238 1 0.999 0.9942 0.9138 1 1 1 0.99 0.95 0.9919 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.009463 NA NA 0.999767 0.906945 NA 0.971 NA 2.6749996 1393 4 175598334 175598334 T C exonic GLRA3 NA synonymous SNV GLRA3:NM_001042543:exon7:c.A822G:p.S274S,GLRA3:NM_006529:exon7:c.A822G:p.S274S exonic ENSG00000145451 NA synonymous SNV ENSG00000145451:ENST00000274093:exon7:c.A822G:p.S274S,ENSG00000145451:ENST00000340217:exon7:c.A822G:p.S274S NA NA 4q34.1 NA NA NA NA rs6812439 0.98 0.98 0.972 0.976438 0.999 1 0.9942 0.9145 1 1 1 1 0.92 0.9931 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.637598 NA NA 0.999651 0.933046 NA 0.986 NA 2.6749156 1393 1 111773568 111773568 G C intronic CHI3L2 NA NA NA intronic ENSG00000064886 NA NA NA NA NA 1p13.3 NA NA NA NA rs2255089 0.42 0.42 0.376 0.404952 0.4513 0.5575 0.3329 0.2542 0.455 0.46 0.53 0.38 0.23 0.4347 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248283 NA NA 0.439186 0.285066 NA 0.355 NA 2.674814 1393 7 129962360 129962360 A G exonic CPA4 NA synonymous SNV CPA4:NM_001163446:exon10:c.A1011G:p.A337A,CPA4:NM_016352:exon11:c.A1110G:p.A370A exonic ENSG00000128510 NA synonymous SNV ENSG00000128510:ENST00000493259:exon9:c.A798G:p.A266A,ENSG00000128510:ENST00000445470:exon10:c.A1011G:p.A337A,ENSG00000128510:ENST00000222482:exon11:c.A1110G:p.A370A NA NA 7q32.2 NA NA NA NA rs1569133 0.97 0.97 0.966 0.973043 1 1 0.9942 0.9009 1 1 1 0.99 0.89 0.9921 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.878222 NA NA 0.999767 0.91557 NA 0.949 NA 2.6747996 1393 10 129846010 129846010 G A intronic PTPRE NA NA NA intronic ENSG00000132334 NA NA NA NA NA 10q26.2 NA Name=ZNF263,Pol2(b),Pol2,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 1393 12 113541940 113541940 C T intronic RASAL1 NA NA NA intronic ENSG00000111344 NA NA NA NA NA 12q24.13 NA Name=USF-1,HA-E2F1,CTCF,ATF3,CEBPB NA NA rs1613480 0.77 0.77 0.72 0.775759 0.7714 0.7907 0.8573 0.7398 0.7556 0.74 0.78 0.84 0.74 0.7788 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 -1.251621 NA NA 0.775308 0.746591 NA 0.761 NA 2.674492 1393 15 35149008 35149008 C T exonic AQR NA synonymous SNV AQR:NM_014691:exon35:c.G4443A:p.P1481P exonic ENSG00000021776 NA synonymous SNV ENSG00000021776:ENST00000156471:exon35:c.G4443A:p.P1481P NA NA 15q14 NA NA NA NA rs8035240 0.98 0.98 0.977 0.977436 1 1 0.9942 0.9175 1 1 1 0.99 0.93 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 -0.011375 NA NA 0.99988 0.918747 NA 0.971 NA 2.6742866 1393 8 30695226 30695226 C T exonic TEX15 NA synonymous SNV TEX15:NM_031271:exon3:c.G7425A:p.T2475T exonic ENSG00000133863 NA synonymous SNV ENSG00000133863:ENST00000256246:exon3:c.G7425A:p.T2475T NA NA 8p12 NA NA NA NA rs2720593 0.98 0.98 0.975 0.976238 1 1 0.9942 0.913 1 1 1 0.99 0.91 0.993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.331292 NA NA 0.999535 0.931684 NA 0.978 NA 2.6741316 1393 13 78477674 78477674 A G exonic EDNRB NA synonymous SNV EDNRB:NM_001122659:exon2:c.T552C:p.S184S,EDNRB:NM_003991:exon2:c.T552C:p.S184S,EDNRB:NM_000115:exon3:c.T552C:p.S184S,EDNRB:NM_001201397:exon3:c.T822C:p.S274S exonic ENSG00000136160 NA synonymous SNV ENSG00000136160:ENST00000334286:exon2:c.T552C:p.S184S,ENSG00000136160:ENST00000446573:exon2:c.T552C:p.S184S,ENSG00000136160:ENST00000377211:exon3:c.T822C:p.S274S NA NA 13q22.3 NA NA NA NA rs5348 0.99 0.99 0.981 0.983826 0.998 0.998 0.9885 0.9516 0.9949 1 1 0.98 0.96 0.9949 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.85709 NA NA 0.999767 0.955969 NA 0.971 NA 2.6739996 1393 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 1393 19 4508945 4508945 A G exonic PLIN4 NA synonymous SNV PLIN4:NM_001080400:exon4:c.T3495C:p.P1165P exonic ENSG00000167676 NA synonymous SNV ENSG00000167676:ENST00000301286:exon4:c.T3495C:p.P1165P NA NA 19p13.3 NA NA NA NA rs8105775 1 1 0.997 0.998403 0.997 1 1 0.9992 0.9959 1 1 1 1 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 -0.761322 NA NA 0.998185 0.999744 NA 0.978 NA 2.6739816 1393 11 64367325 64367325 A G exonic SLC22A12 NA synonymous SNV SLC22A12:NM_001276327:exon5:c.A924G:p.A308A,SLC22A12:NM_001276326:exon7:c.A1146G:p.A382A,SLC22A12:NM_144585:exon7:c.A1248G:p.A416A,SLC22A12:NM_153378:exon7:c.A585G:p.A195A exonic ENSG00000197891 NA synonymous SNV ENSG00000197891:ENST00000377572:exon5:c.A924G:p.A308A,ENSG00000197891:ENST00000377567:exon6:c.A924G:p.A308A,ENSG00000197891:ENST00000336464:exon7:c.A1146G:p.A382A,ENSG00000197891:ENST00000377574:exon7:c.A1248G:p.A416A,ENSG00000197891:ENST00000473690:exon7:c.A585G:p.A195A NA NA 11q13.1 NA NA NA NA rs1630320 0.98 0.98 0.978 0.976837 1 1 0.9942 0.9244 0.9877 1 1 0.99 0.92 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 -1.202883 NA NA 0.999884 0.930196 NA 0.935 NA 2.6738826 1393 4 186379371 186379371 G A exonic CCDC110 NA synonymous SNV CCDC110:NM_001145411:exon5:c.C2259T:p.Y753Y,CCDC110:NM_152775:exon6:c.C2370T:p.Y790Y exonic ENSG00000168491 NA synonymous SNV ENSG00000168491:ENST00000508538:exon1:c.C150T:p.Y50Y,ENSG00000168491:ENST00000393540:exon5:c.C2259T:p.Y753Y,ENSG00000168491:ENST00000307588:exon6:c.C2370T:p.Y790Y,ENSG00000168491:ENST00000510617:exon6:c.C2370T:p.Y790Y NA NA 4q35.1 NA NA NA NA rs7687202 0.98 0.98 0.976 0.977436 1 1 0.9942 0.9175 1 1 1 0.98 0.92 0.9928 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.58403 NA NA 1 0.924648 NA 0.978 NA 2.6738666 1393 6 74079041 74079041 A C exonic OOEP NA synonymous SNV OOEP:NM_001080507:exon2:c.T258G:p.V86V exonic ENSG00000203907 NA synonymous SNV ENSG00000203907:ENST00000370359:exon2:c.T258G:p.V86V,ENSG00000203907:ENST00000441145:exon2:c.T93G:p.V31V,ENSG00000203907:ENST00000370363:exon3:c.T93G:p.V31V NA NA 6q13 NA NA NA NA rs497243 0.98 0.98 0.967 0.971645 1 1 0.9942 0.8956 1 1 1 1 0.89 0.9932 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38777 NA NA 0.999637 0.930894 NA 0.986 NA 2.6738296 1393 15 81212608 81212608 G A exonic KIAA1199 NA synonymous SNV KIAA1199:NM_018689:exon14:c.G1971A:p.P657P exonic ENSG00000103888 NA synonymous SNV ENSG00000103888:ENST00000220244:exon14:c.G1971A:p.P657P,ENSG00000103888:ENST00000356249:exon15:c.G1971A:p.P657P,ENSG00000103888:ENST00000394685:exon15:c.G1971A:p.P657P NA NA 15q25.1 NA NA NA NA rs1553647 0.99 0.99 0.988 0.988419 0.998 1 0.9942 0.9607 1 1 1 1 0.95 0.9961 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.987851 NA NA 0.99907 0.967544 NA 0.993 NA 2.6734966 1393 9 126144746 126144746 T C exonic DENND1A NA synonymous SNV DENND1A:NM_020946:exon22:c.A1995G:p.G665G exonic ENSG00000119522 NA synonymous SNV ENSG00000119522:ENST00000542603:exon14:c.A1350G:p.G450G,ENSG00000119522:ENST00000394219:exon21:c.A2028G:p.G676G,ENSG00000119522:ENST00000373624:exon22:c.A1995G:p.G665G NA NA 9q33.3 NA NA NA NA rs2491348 0.99 0.99 0.983 0.978235 1 0.999 0.9957 0.9221 0.998 1 1 1 0.94 0.9937 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.315063 NA NA 0.999651 0.940763 NA 0.978 NA 2.6733156 1393 17 41165878 41165878 C T exonic IFI35 NA synonymous SNV IFI35:NM_005533:exon6:c.C654T:p.N218N exonic ENSG00000068079 NA synonymous SNV ENSG00000068079:ENST00000415816:exon6:c.C648T:p.N216N,ENSG00000068079:ENST00000438323:exon6:c.C654T:p.N218N NA NA 17q21.31 NA NA NA NA rs13229 0.98 0.98 0.987 0.97524 1 1 0.9856 0.9138 1 1 1 0.98 0.94 0.9936 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174209 NA NA 0.999767 0.929641 NA 0.971 NA 2.6732996 1393 14 52520853 52520853 A G exonic NID2 NA synonymous SNV NID2:NM_007361:exon4:c.T954C:p.Y318Y exonic ENSG00000087303 NA synonymous SNV ENSG00000087303:ENST00000216286:exon4:c.T954C:p.Y318Y,ENSG00000087303:ENST00000541773:exon5:c.T795C:p.Y265Y NA NA 14q22.1 NA NA NA NA rs904059 0.99 0.99 0.982 0.980631 1 1 0.9942 0.9297 1 1 1 0.99 0.95 0.9935 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645893 NA NA 0.999884 0.928734 NA 0.993 NA 2.6732826 1393 5 120021819 120021819 G A exonic PRR16 NA synonymous SNV PRR16:NM_016644:exon3:c.G261A:p.P87P exonic ENSG00000184838 NA synonymous SNV ENSG00000184838:ENST00000407149:exon2:c.G330A:p.P110P,ENSG00000184838:ENST00000509923:exon2:c.G120A:p.P40P,ENSG00000184838:ENST00000379551:exon3:c.G261A:p.P87P,ENSG00000184838:ENST00000446965:exon3:c.G120A:p.P40P,ENSG00000184838:ENST00000505123:exon4:c.G120A:p.P40P NA NA 5q23.1 NA NA NA NA rs1158194 0.98 0.98 0.984 0.982029 1 1 0.9957 0.9342 1 1 1 0.99 0.94 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 0.147239 NA NA 0.999186 0.939855 NA 0.783 NA 2.6732806 1393 11 3392972 3392972 G A intronic ZNF195 NA NA NA intronic ENSG00000005801 NA NA NA NA NA 11p15.4 NA NA Name=3 NA rs2269732 0.67 0.67 0.661 0.68111 0.7922 0.5833 0.7839 0.6309 0.6626 0.78 0.54 0.76 0.6 0.7453 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 -1.075195 NA NA 0.789252 0.659175 ID=COSN163865;OCCURENCE=1(breast) 0.804 NA 2.673248 1393 11 48238421 48238421 T G exonic OR4B1 NA synonymous SNV OR4B1:NM_001005470:exon1:c.T60G:p.A20A exonic ENSG00000175619 NA synonymous SNV ENSG00000175619:ENST00000309562:exon1:c.T60G:p.A20A NA NA 11p11.2 NA NA NA NA rs10769329 0.98 0.98 0.982 0.977835 1 1 0.9942 0.9191 1 1 1 0.99 0.94 0.9939 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.183449 NA NA 0.999535 0.931849 NA 0.978 NA 2.6732316 1393 3 59999690 59999690 T C intronic FHIT NA NA NA intronic ENSG00000189283 NA NA NA NA NA 3p14.2 NA NA NA NA rs13067835 0.32 0.32 0.299 0.294728 0.4831 0.2976 0.2867 0.0998 0.3671 0.49 0.28 0.32 0.11 0.3878 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.096778 NA NA 0.456047 0.155016 NA 0.246 NA 2.673053 1393 16 84792428 84792428 C T intronic USP10 NA NA NA intronic ENSG00000103194 NA NA NA NA NA 16q24.1 NA NA NA NA rs7202832 0.33 0.33 0.325 0.265575 0.4901 0.0675 0.2896 0.298 0.1779 0.51 0.08 0.34 0.32 0.365 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.087978 NA NA 0.47185 0.294554 NA 0.464 NA 2.67305 1393 8 3165207 3165207 A G intronic CSMD1 NA NA NA intronic ENSG00000183117 NA NA NA NA NA 8p23.2 NA NA NA NA rs10103770 0.41 0.41 0.401 0.380391 0.4483 0.2192 0.5115 0.3994 0.3579 0.45 0.26 0.54 0.44 0.437 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.236183 NA NA 0.441719 0.387283 NA 0.449 NA 2.672981 1393 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 1393 10 120919246 120919246 T C exonic SFXN4 NA synonymous SNV SFXN4:NM_213649:exon6:c.A354G:p.A118A exonic ENSG00000183605 NA synonymous SNV ENSG00000183605:ENST00000330036:exon5:c.A327G:p.A109A,ENSG00000183605:ENST00000419372:exon5:c.A6G:p.A2A,ENSG00000183605:ENST00000355697:exon6:c.A354G:p.A118A,ENSG00000183605:ENST00000369131:exon6:c.A6G:p.A2A NA NA 10q26.11 NA NA NA NA rs2181118 0.99 0.99 0.986 0.983027 1 1 0.9885 0.9418 1 1 1 0.99 0.95 0.995 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.114649 NA NA 0.998953 0.949387 NA 0.978 NA 2.6727136 1393 3 3886580 3886580 A G exonic LRRN1 NA synonymous SNV LRRN1:NM_020873:exon2:c.A255G:p.A85A exonic ENSG00000175928 NA synonymous SNV ENSG00000175928:ENST00000319331:exon2:c.A255G:p.A85A NA NA 3p26.2 NA NA NA NA rs4685689 0.99 0.99 0.982 0.986821 1 0.996 0.9971 0.9546 1 1 0.99 1 0.95 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 0.632211 NA NA 0.999767 0.948025 NA 1 NA 2.6726996 1393 15 79614418 79614418 A G exonic TMED3 NA synonymous SNV TMED3:NM_007364:exon3:c.A516G:p.A172A exonic ENSG00000166557 NA synonymous SNV ENSG00000166557:ENST00000299705:exon3:c.A516G:p.A172A NA NA 15q25.1 NA NA NA NA rs906439 0.98 0.98 0.98 0.977636 1 1 0.9957 0.9175 1 1 1 1 0.91 0.994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.192986 NA NA 1 0.931011 NA 0.993 NA 2.6726666 1393 12 48134695 48134695 T C intronic RAPGEF3 NA NA NA ncRNA_exonic ENSG00000257433 NA NA NA NA NA 12q13.11 NA NA NA NA rs2074533 0.51 0.51 0.511 0.509585 0.5746 0.4524 0.4553 0.5113 0.5378 0.55 0.47 0.48 0.52 0.5258 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.641453 NA NA 0.560349 0.511802 NA 0.428 NA 2.6725843 1393 12 4736631 4736631 A G exonic AKAP3 NA synonymous SNV AKAP3:NM_006422:exon4:c.T1437C:p.F479F exonic ENSG00000111254 NA synonymous SNV ENSG00000111254:ENST00000228850:exon4:c.T1437C:p.F479F,ENSG00000111254:ENST00000545990:exon5:c.T1437C:p.F479F NA NA 12p13.32 NA NA NA NA rs11063265 0.99 0.99 0.986 0.982827 1 1 0.9942 0.938 1 1 1 0.99 0.96 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 -1.992069 NA NA 0.999884 0.931911 NA 0.986 NA 2.6725826 1393 6 25509976 25509976 T C intronic LRRC16A NA NA NA intronic ENSG00000079691 NA NA NA NA NA 6p22.2 NA NA NA NA rs4568443 0.36 0.36 0.339 0.382588 0.4195 0.1488 0.3948 0.5113 0.4029 0.41 0.12 0.43 0.51 0.4756 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.203381 NA NA 0.432346 0.475855 NA 0.377 NA 2.672554 1393 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 1393 17 11778240 11778240 G A intronic DNAH9 NA NA NA intronic ENSG00000007174 NA NA NA NA NA 17p12 NA NA NA NA rs7211854 0.37 0.37 0.372 0.344848 0.4543 0.2788 0.2954 0.3313 0.3538 0.47 0.28 0.32 0.35 0.4158 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.205302 NA NA 0.457791 0.36246 NA 0.449 NA 2.672109 1393 8 2040337 2040337 T C exonic MYOM2 NA synonymous SNV MYOM2:NM_003970:exon16:c.T1992C:p.I664I exonic ENSG00000036448 NA synonymous SNV ENSG00000036448:ENST00000523438:exon3:c.T267C:p.I89I,ENSG00000036448:ENST00000262113:exon16:c.T1992C:p.I664I NA NA 8p23.3 NA NA NA NA rs6420202 0.99 0.99 0.982 0.983027 0.999 1 0.9986 0.9372 1 1 1 1 0.94 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956415 NA NA 1 0.953926 NA 0.964 NA 2.6720666 1393 6 10891781 10891781 C T exonic SYCP2L NA synonymous SNV SYCP2L:NM_001040274:exon2:c.C45T:p.D15D exonic ENSG00000153157 NA synonymous SNV ENSG00000153157:ENST00000283141:exon2:c.C45T:p.D15D,ENSG00000153157:ENST00000341041:exon2:c.C45T:p.D15D NA NA 6p24.2 NA NA NA NA rs1538441 0.99 0.99 0.988 0.98762 0.999 1 0.9942 0.9569 1 1 1 0.99 0.96 0.9966 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.188074 NA NA 0.999143 0.966448 NA 1 NA 2.6719236 1393 10 124331867 124331867 C T exonic DMBT1 NA synonymous SNV DMBT1:NM_004406:exon5:c.C225T:p.T75T,DMBT1:NM_007329:exon5:c.C225T:p.T75T,DMBT1:NM_017579:exon5:c.C225T:p.T75T exonic ENSG00000187908 NA synonymous SNV ENSG00000187908:ENST00000330163:exon5:c.C225T:p.T75T,ENSG00000187908:ENST00000338354:exon5:c.C225T:p.T75T,ENSG00000187908:ENST00000344338:exon5:c.C225T:p.T75T,ENSG00000187908:ENST00000359586:exon5:c.C225T:p.T75T,ENSG00000187908:ENST00000368909:exon5:c.C225T:p.T75T,ENSG00000187908:ENST00000368955:exon5:c.C225T:p.T75T,ENSG00000187908:ENST00000368956:exon5:c.C225T:p.T75T NA NA 10q26.13 NA NA NA NA rs7084792 0.99 0.99 0.988 0.98742 0.999 1 0.9942 0.9561 1 1 1 0.99 0.95 0.996 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.560428 NA NA 0.999758 0.961378 NA 0.978 NA 2.6719086 1393 2 120369300 120369300 T C exonic PCDP1 NA synonymous SNV PCDP1:NM_001271049:exon13:c.T1293C:p.V431V exonic ENSG00000163075 NA synonymous SNV ENSG00000163075:ENST00000413369:exon13:c.T1293C:p.V431V,ENSG00000163075:ENST00000602047:exon14:c.T435C:p.V145V NA NA 2q14.2 NA NA NA NA rs10864986 0.99 0.99 0.982 0.983826 1 0.9921 0.9942 0.9478 1 1 0.99 0.99 0.95 0.9951 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.300905 NA NA 0.999767 0.959374 NA 0.978 NA 2.6717996 1393 5 178415982 178415982 A G exonic GRM6 NA synonymous SNV GRM6:NM_000843:exon6:c.T1308C:p.T436T exonic ENSG00000113262 NA synonymous SNV ENSG00000113262:ENST00000231188:exon6:c.T1308C:p.T436T,ENSG00000113262:ENST00000517717:exon7:c.T1308C:p.T436T NA NA 5q35.3 NA NA NA NA rs4701014 0.99 0.99 0.982 0.986022 1 1 0.9942 0.9501 1 1 1 0.99 0.95 0.9952 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.904631 NA NA 0.999767 0.947798 NA 0.79 NA 2.6716996 1393 10 64573771 64573771 C T exonic EGR2 NA synonymous SNV EGR2:NM_000399:exon2:c.G627A:p.P209P,EGR2:NM_001136177:exon3:c.G627A:p.P209P,EGR2:NM_001136179:exon3:c.G477A:p.P159P,EGR2:NM_001136178:exon4:c.G627A:p.P209P exonic ENSG00000122877 NA synonymous SNV ENSG00000122877:ENST00000242480:exon2:c.G627A:p.P209P,ENSG00000122877:ENST00000411732:exon3:c.G477A:p.P159P,ENSG00000122877:ENST00000439032:exon4:c.G627A:p.P209P NA NA 10q21.3 NA NA NA NA rs224083 0.99 0.99 0.984 0.986022 1 1 0.9971 0.9486 1 1 1 0.99 0.95 0.9953 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044302 NA NA 0.999767 0.947798 NA 0.971 NA 2.6715996 1393 4 3219613 3219613 A C exonic HTT NA synonymous SNV HTT:NM_002111:exon52:c.A7176C:p.L2392L exonic ENSG00000197386 NA synonymous SNV ENSG00000197386:ENST00000355072:exon52:c.A7176C:p.L2392L NA NA 4p16.3 NA NA NA NA rs2857790 0.98 0.98 0.984 0.984824 1 1 0.9942 0.9455 1 1 1 0.99 0.93 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.969055 NA NA 0.999525 0.959615 NA 0.986 NA 2.6715416 1393 2 220333950 220333950 T C exonic SPEG NA synonymous SNV SPEG:NM_005876:exon13:c.T3564C:p.P1188P exonic ENSG00000072195 NA synonymous SNV ENSG00000072195:ENST00000312358:exon13:c.T3564C:p.P1188P NA NA 2q35 NA NA NA NA rs10167209 0.99 0.99 0.986 0.983826 1 1 0.9914 0.9433 1 1 1 0.99 0.94 0.9953 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.755846 NA NA 0.999883 0.952315 NA 0.971 NA 2.6714836 1393 4 8602884 8602884 T C exonic CPZ NA synonymous SNV CPZ:NM_003652:exon2:c.T123C:p.S41S,CPZ:NM_001014447:exon3:c.T156C:p.S52S exonic ENSG00000109625 NA synonymous SNV ENSG00000109625:ENST00000315782:exon2:c.T123C:p.S41S,ENSG00000109625:ENST00000360986:exon3:c.T156C:p.S52S NA NA 4p16.1 NA NA NA NA rs4301095 0.98 0.98 0.983 0.983427 1 1 0.9986 0.938 1 1 1 1 0.92 0.9953 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.361569 NA NA 0.999884 0.952792 NA 0.978 NA 2.6714826 1393 1 89322982 89322982 G A exonic GTF2B NA synonymous SNV GTF2B:NM_001514:exon6:c.C724T:p.L242L exonic ENSG00000137947 NA synonymous SNV ENSG00000137947:ENST00000370500:exon6:c.C724T:p.L242L NA NA 1p22.2 NA NA NA NA rs2794318 0.99 0.99 0.987 0.986022 1 1 0.9957 0.9493 1 1 1 1 0.95 0.9954 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.00784 NA NA 0.999884 0.948479 NA 0.978 NA 2.6713826 1393 12 5154462 5154462 T C exonic KCNA5 NA synonymous SNV KCNA5:NM_002234:exon1:c.T1149C:p.G383G exonic ENSG00000130037 NA synonymous SNV ENSG00000130037:ENST00000252321:exon1:c.T1149C:p.G383G NA NA 12p13.32 NA NA NA NA rs2359641 0.98 0.98 0.979 0.98103 1 0.996 0.9885 0.9372 1 1 0.99 0.99 0.93 0.9954 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.741642 NA NA 0.999884 0.955061 NA 0.978 NA 2.6713826 1393 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 1393 4 8602935 8602935 A G exonic CPZ NA synonymous SNV CPZ:NM_003652:exon2:c.A174G:p.S58S,CPZ:NM_001014447:exon3:c.A207G:p.S69S exonic ENSG00000109625 NA synonymous SNV ENSG00000109625:ENST00000315782:exon2:c.A174G:p.S58S,ENSG00000109625:ENST00000360986:exon3:c.A207G:p.S69S NA NA 4p16.1 NA NA NA NA rs4431213 0.96 0.96 0.979 0.983427 1 1 0.9986 0.938 1 0.99 0.98 0.99 0.88 0.9955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.347726 NA NA 0.999884 0.953473 NA 0.964 NA 2.6712826 1393 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 1393 4 7435379 7435379 A G exonic PSAPL1 NA synonymous SNV PSAPL1:NM_001085382:exon1:c.T1228C:p.L410L exonic ENSG00000178597 NA synonymous SNV ENSG00000178597:ENST00000319098:exon1:c.T1228C:p.L410L NA NA 4p16.1 NA NA NA NA rs4689746 0.99 0.99 0.982 0.988019 0.999 1 1 0.9554 1 1 1 1 0.94 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 -0.951553 NA NA 0.999765 0.96807 NA 0.978 NA 2.6710016 1393 2 227877037 227877037 G A intronic COL4A4 NA NA NA intronic ENSG00000081052 NA NA NA NA NA 2q36.3 NA NA NA NA rs10188770 0.47 0.47 0.451 0.520567 0.4334 0.4038 0.4827 0.6407 0.5951 0.44 0.39 0.48 0.59 0.4763 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.693283 NA NA 0.419316 0.579432 NA 0.493 NA 2.670984 1393 15 75498548 75498548 A G exonic C15orf39 NA synonymous SNV C15orf39:NM_015492:exon2:c.A159G:p.A53A exonic ENSG00000167173 NA synonymous SNV ENSG00000167173:ENST00000567617:exon1:c.A159G:p.A53A,ENSG00000167173:ENST00000360639:exon2:c.A159G:p.A53A,ENSG00000167173:ENST00000394987:exon2:c.A159G:p.A53A NA NA 15q24.2 NA NA NA NA rs1466663 0.99 0.99 0.991 0.992412 0.999 1 0.9971 0.9735 1 1 1 0.99 0.98 0.9974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.342289 NA NA 0.999302 0.975876 NA 0.986 NA 2.6709646 1393 2 220419236 220419236 T C exonic OBSL1 NA synonymous SNV OBSL1:NM_015311:exon15:c.A4836G:p.T1612T exonic ENSG00000124006 NA synonymous SNV ENSG00000124006:ENST00000373876:exon14:c.A4560G:p.T1520T,ENSG00000124006:ENST00000404537:exon15:c.A4836G:p.T1612T NA NA 2q35 NA NA NA NA rs10932813 0.99 0.99 0.986 0.985224 1 1 0.9942 0.947 1 1 1 0.99 0.95 0.9961 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.216999 NA NA 0.999645 0.964269 NA 0.986 NA 2.6709216 1393 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 1393 11 26663394 26663394 A G intronic ANO3 NA NA NA intronic ENSG00000134343 NA NA NA NA NA 11p14.2 NA NA NA NA rs10835040 0.35 0.35 0.344 0.354233 0.4523 0.3552 0.2723 0.2277 0.4816 0.46 0.36 0.3 0.2 0.4149 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.241439 NA NA 0.462549 0.242624 NA 0.333 NA 2.670251 1393 17 73625478 73625478 T C exonic RECQL5 NA synonymous SNV RECQL5:NM_004259:exon16:c.A2025G:p.T675T exonic ENSG00000108469 NA synonymous SNV ENSG00000108469:ENST00000582548:exon1:c.A45G:p.T15T,ENSG00000108469:ENST00000580707:exon9:c.A492G:p.T164T,ENSG00000108469:ENST00000317905:exon16:c.A2025G:p.T675T,ENSG00000108469:ENST00000423245:exon16:c.A1944G:p.T648T NA NA 17q25.1 NA NA NA NA rs820191 0.99 0.99 0.987 0.989217 1 1 0.9942 0.9622 1 1 1 0.99 0.96 0.9968 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.229594 NA NA 0.999633 0.967827 NA 0.986 NA 2.6702336 1393 14 70634087 70634087 A G exonic SLC8A3 NA synonymous SNV SLC8A3:NM_033262:exon2:c.T1053C:p.R351R,SLC8A3:NM_058240:exon2:c.T1053C:p.R351R,SLC8A3:NM_182932:exon2:c.T1053C:p.R351R,SLC8A3:NM_183002:exon2:c.T1053C:p.R351R exonic ENSG00000100678 NA synonymous SNV ENSG00000100678:ENST00000528359:exon1:c.T1053C:p.R351R,ENSG00000100678:ENST00000534137:exon1:c.T1053C:p.R351R,ENSG00000100678:ENST00000356921:exon2:c.T1053C:p.R351R,ENSG00000100678:ENST00000357887:exon2:c.T1053C:p.R351R,ENSG00000100678:ENST00000381269:exon2:c.T1053C:p.R351R,ENSG00000100678:ENST00000494208:exon2:c.T1053C:p.R351R NA NA 14q24.2 NA NA NA NA rs2114024 0.99 0.99 0.993 0.992812 0.999 1 0.9971 0.975 1 1 1 1 0.98 0.9977 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.330131 NA NA 0.999767 0.977985 NA 0.993 NA 2.6701996 1393 15 56923714 56923714 G A exonic ZNF280D NA synonymous SNV ZNF280D:NM_001002843:exon21:c.C2883T:p.D961D,ZNF280D:NM_017661:exon22:c.C2922T:p.D974D exonic ENSG00000137871 NA synonymous SNV ENSG00000137871:ENST00000559237:exon21:c.C2883T:p.D961D,ENSG00000137871:ENST00000267807:exon22:c.C2922T:p.D974D NA NA 15q21.3 NA NA NA NA rs8043381 0.99 0.99 0.992 0.989217 1 1 0.9957 0.9614 1 1 1 1 0.98 0.9965 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.756851 NA NA 1 0.958714 NA 0.986 NA 2.6701666 1393 17 73627565 73627565 A G exonic RECQL5 NA synonymous SNV RECQL5:NM_004259:exon9:c.T1413C:p.Y471Y exonic ENSG00000108469 NA synonymous SNV ENSG00000108469:ENST00000578201:exon8:c.T1413C:p.Y471Y,ENSG00000108469:ENST00000317905:exon9:c.T1413C:p.Y471Y,ENSG00000108469:ENST00000423245:exon9:c.T1332C:p.Y444Y NA NA 17q25.1 NA NA NA NA rs820197 0.99 0.99 0.988 0.988618 1 1 0.9942 0.9599 1 1 1 0.99 0.96 0.9968 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41801 NA NA 0.999761 0.96875 NA 0.964 NA 2.6701056 1393 17 47241604 47241604 T C exonic B4GALNT2 NA synonymous SNV B4GALNT2:NM_001159387:exon8:c.T921C:p.N307N,B4GALNT2:NM_001159388:exon8:c.T843C:p.N281N,B4GALNT2:NM_153446:exon8:c.T1101C:p.N367N exonic ENSG00000167080 NA synonymous SNV ENSG00000167080:ENST00000300404:exon8:c.T1101C:p.N367N,ENSG00000167080:ENST00000393354:exon8:c.T921C:p.N307N,ENSG00000167080:ENST00000504681:exon8:c.T843C:p.N281N NA NA 17q21.32 NA NA NA NA rs8074457 1 1 0.995 0.996206 0.998 1 0.9986 0.9879 1 1 1 1 0.99 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.490932 NA NA 1 0.983659 NA 1 NA 2.6700666 1393 15 25961964 25961964 A G exonic ATP10A NA synonymous SNV ATP10A:NM_024490:exon9:c.T1689C:p.P563P exonic ENSG00000206190 NA synonymous SNV ENSG00000206190:ENST00000356865:exon9:c.T1689C:p.P563P,ENSG00000206190:ENST00000555815:exon10:c.T1689C:p.P563P NA NA 15q12 NA NA NA NA rs10873607 0.99 0.99 0.992 0.992212 0.999 1 0.9971 0.9728 1 1 1 0.99 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 -0.917327 NA NA 1 0.982297 NA 0.971 NA 2.6697666 1393 1 222833601 222833601 T C exonic MIA3 NA synonymous SNV MIA3:NM_198551:exon24:c.T5058C:p.P1686P exonic ENSG00000154305 NA synonymous SNV ENSG00000154305:ENST00000340535:exon19:c.T1692C:p.P564P,ENSG00000154305:ENST00000344441:exon24:c.T5058C:p.P1686P,ENSG00000154305:ENST00000344922:exon24:c.T5058C:p.P1686P NA NA 1q41 NA NA NA NA rs3002153 1 1 0.996 0.995008 0.999 1 0.9986 0.9826 1 1 1 1 0.99 0.9982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.73361 NA NA 0.999757 0.976203 NA 1 NA 2.6697096 1393 2 219231807 219231807 C T exonic C2orf62 NA synonymous SNV C2orf62:NM_198559:exon8:c.C816T:p.P272P exonic ENSG00000158428 NA synonymous SNV ENSG00000158428:ENST00000289388:exon8:c.C816T:p.P272P NA NA 2q35 NA NA NA NA rs3845833 0.99 0.99 0.988 0.993211 0.999 1 1 0.975 1 1 1 1 0.96 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.576145 NA NA 0.999535 0.991602 NA 1 NA 2.6695316 1393 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 1393 16 55905636 55905636 A G exonic CES5A NA synonymous SNV CES5A:NM_001143685:exon3:c.T318C:p.H106H,CES5A:NM_145024:exon3:c.T318C:p.H106H,CES5A:NM_001190158:exon4:c.T405C:p.H135H exonic ENSG00000159398 NA synonymous SNV ENSG00000159398:ENST00000290567:exon3:c.T318C:p.H106H,ENSG00000159398:ENST00000319165:exon3:c.T318C:p.H106H,ENSG00000159398:ENST00000520435:exon3:c.T318C:p.H106H,ENSG00000159398:ENST00000521992:exon4:c.T405C:p.H135H NA NA 16q12.2 NA NA NA NA rs3859108 0.99 0.99 0.99 0.990815 1 1 0.9986 0.966 1 1 1 1 0.96 0.9972 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.406675 NA NA 1 0.970655 NA 1 NA 2.6694666 1393 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 1393 11 44297054 44297054 T C exonic ALX4 NA synonymous SNV ALX4:NM_021926:exon2:c.A621G:p.S207S exonic ENSG00000052850 NA synonymous SNV ENSG00000052850:ENST00000329255:exon2:c.A621G:p.S207S NA NA 11p11.2 NA NA NA NA rs10769028 0.99 0.99 0.988 0.991613 1 0.999 0.9986 0.9697 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 0.255492 NA NA 0.999767 0.97458 NA 0.993 NA 2.6693996 1393 9 130829039 130829039 A G exonic NAIF1 NA synonymous SNV NAIF1:NM_197956:exon1:c.T342C:p.G114G exonic ENSG00000171169 NA synonymous SNV ENSG00000171169:ENST00000373078:exon1:c.T342C:p.G114G NA NA 9q34.11 NA NA NA NA rs1539350 0.99 0.99 0.996 0.993211 1 1 0.9986 0.975 1 1 1 1 0.97 0.9974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.129284 NA NA 1 0.974453 NA 0.978 NA 2.6692666 1393 15 50773755 50773755 G A exonic USP8 NA synonymous SNV USP8:NM_001128610:exon11:c.G1296A:p.Q432Q,USP8:NM_005154:exon11:c.G1296A:p.Q432Q,USP8:NM_001128611:exon12:c.G1296A:p.Q432Q exonic ENSG00000138592 NA synonymous SNV ENSG00000138592:ENST00000425032:exon9:c.G1065A:p.Q355Q,ENSG00000138592:ENST00000307179:exon11:c.G1296A:p.Q432Q,ENSG00000138592:ENST00000396444:exon11:c.G1296A:p.Q432Q,ENSG00000138592:ENST00000433963:exon12:c.G1296A:p.Q432Q,ENSG00000138592:ENST00000559329:exon12:c.G1296A:p.Q432Q NA NA 15q21.2 NA NA NA NA rs3131561 0.99 0.99 0.991 0.992212 1 1 1 0.9705 1 1 1 1 0.96 0.9974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.490557 NA NA 1 0.974954 NA 0.993 NA 2.6692666 1393 17 4455500 4455500 T C exonic MYBBP1A NA synonymous SNV MYBBP1A:NM_001105538:exon7:c.A825G:p.A275A,MYBBP1A:NM_014520:exon7:c.A825G:p.A275A exonic ENSG00000132382 NA synonymous SNV ENSG00000132382:ENST00000254718:exon7:c.A825G:p.A275A,ENSG00000132382:ENST00000381556:exon7:c.A825G:p.A275A NA NA 17p13.2 NA NA NA NA rs7206974 0.99 0.99 0.993 0.992812 1 1 1 0.9728 1 1 1 1 0.97 0.9977 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.682489 NA NA 0.999767 0.972764 NA 0.978 NA 2.6691996 1393 11 116707684 116707684 A G intronic APOA1 NA NA NA ncRNA_intronic ENSG00000235910 NA NA NA NA NA 11q23.3 NA Name=Pol2 NA NA rs2070665 0.82 0.82 0.814 0.78135 0.8936 0.6478 0.7939 0.8797 0.6616 0.89 0.63 0.86 0.9 0.8505 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 -0.790435 NA NA 0.92014 0.904134 NA 0.87 NA 2.6690933 1393 16 50326661 50326661 A G exonic ADCY7 NA synonymous SNV ADCY7:NM_001114:exon4:c.A612G:p.A204A exonic ENSG00000121281 NA synonymous SNV ENSG00000121281:ENST00000254235:exon4:c.A612G:p.A204A,ENSG00000121281:ENST00000537579:exon4:c.A612G:p.A204A,ENSG00000121281:ENST00000567277:exon4:c.A612G:p.A204A,ENSG00000121281:ENST00000394697:exon5:c.A612G:p.A204A,ENSG00000121281:ENST00000566433:exon5:c.A612G:p.A204A,ENSG00000121281:ENST00000538642:exon6:c.A612G:p.A204A NA NA 16q12.1 NA NA NA NA rs8051594 0.99 0.99 1 0.994409 1 1 0.9986 0.9796 1 0.99 0.99 0.99 0.99 0.9982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.305802 NA NA 0.999419 0.982257 NA 0.935 NA 2.6690476 1393 7 44840864 44840864 G A intronic PPIA NA NA NA intronic ENSG00000196262 NA NA NA NA NA 7p13 NA NA Name=14 NA rs10249442 0.52 0.52 0.49 0.489217 0.8181 0.246 0.6037 0.2663 0.6217 0.82 0.23 0.63 0.32 0.6881 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 0.090136 NA NA 0.824767 0.346346 NA 0.514 NA 2.669033 1393 4 126369872 126369872 G C exonic FAT4 NA synonymous SNV FAT4:NM_024582:exon9:c.G7701C:p.V2567V exonic ENSG00000196159 NA synonymous SNV ENSG00000196159:ENST00000335110:exon9:c.G2595C:p.V865V,ENSG00000196159:ENST00000394329:exon9:c.G7701C:p.V2567V NA NA 4q28.1 NA NA NA NA rs988863 1 1 0.996 0.990815 1 1 1 0.9652 1 1 1 1 0.98 0.9978 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.709468 NA NA 1 0.977531 NA 0.993 NA 2.6688666 1393 11 36484208 36484208 T C exonic PRR5L NA synonymous SNV PRR5L:NM_001160168:exon6:c.T645C:p.T215T,PRR5L:NM_001160167:exon9:c.T1029C:p.T343T,PRR5L:NM_024841:exon10:c.T1029C:p.T343T exonic ENSG00000135362 NA synonymous SNV ENSG00000135362:ENST00000311599:exon9:c.T810C:p.T270T,ENSG00000135362:ENST00000530639:exon9:c.T1029C:p.T343T,ENSG00000135362:ENST00000378867:exon10:c.T1029C:p.T343T NA NA 11p12 NA NA NA NA rs514352 1 1 0.992 0.994808 1 1 1 0.9803 1 1 1 1 0.99 0.9982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.519234 NA NA 0.999651 0.986136 NA 1 NA 2.6688156 1393 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 1393 8 144776109 144776109 A G exonic ZNF707 NA synonymous SNV ZNF707:NM_001100599:exon5:c.A525G:p.S175S,ZNF707:NM_001100598:exon6:c.A525G:p.S175S,ZNF707:NM_173831:exon7:c.A525G:p.S175S exonic ENSG00000181135 NA synonymous SNV ENSG00000181135:ENST00000526315:exon4:c.A417G:p.S139S,ENSG00000181135:ENST00000454097:exon5:c.A525G:p.S175S,ENSG00000181135:ENST00000358656:exon6:c.A525G:p.S175S,ENSG00000181135:ENST00000418203:exon6:c.A525G:p.S175S,ENSG00000181135:ENST00000532158:exon7:c.A525G:p.S175S,ENSG00000181135:ENST00000532205:exon8:c.A525G:p.S175S NA NA 8q24.3 NA NA NA NA rs11786757 0.99 0.99 0.992 0.992612 1 1 0.9986 0.9728 1 1 1 1 0.96 0.9981 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.267217 NA NA 0.999881 0.980751 ID=COSM1455376;OCCURENCE=6(large_intestine) 0.993 NA 2.6686856 1393 3 125775228 125775228 T C exonic SLC41A3 NA synonymous SNV SLC41A3:NM_001008487:exon1:c.A168G:p.T56T exonic ENSG00000114544 NA synonymous SNV ENSG00000114544:ENST00000383598:exon1:c.A168G:p.T56T,ENSG00000114544:ENST00000513723:exon3:c.A402G:p.T134T NA NA 3q21.2 NA NA NA NA rs7613944 0.99 0.99 0.994 0.994808 1 1 1 0.9803 1 1 1 1 0.97 0.998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.52238 NA NA 1 0.980027 NA 0.993 NA 2.6686666 1393 19 54677759 54677759 T C exonic MBOAT7 NA synonymous SNV MBOAT7:NM_001146056:exon6:c.A1179G:p.P393P,MBOAT7:NM_001146083:exon7:c.A1179G:p.P393P,MBOAT7:NM_024298:exon8:c.A1398G:p.P466P exonic ENSG00000125505 NA synonymous SNV ENSG00000125505:ENST00000338624:exon6:c.A1179G:p.P393P,ENSG00000125505:ENST00000431666:exon7:c.A1179G:p.P393P,ENSG00000125505:ENST00000245615:exon8:c.A1398G:p.P466P NA NA 19q13.42 NA NA NA NA rs4806721 0.99 0.99 0.999 0.99381 1 0.9702 1 1 0.999 1 0.98 1 1 0.9982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.69165 1.69165 NA 0.999884 1 NA 0.993 NA 2.6685826 1393 5 112479004 112479004 T C exonic MCC NA synonymous SNV MCC:NM_002387:exon3:c.A225G:p.T75T,MCC:NM_001085377:exon5:c.A795G:p.T265T exonic ENSG00000171444 NA synonymous SNV ENSG00000171444:ENST00000302475:exon3:c.A225G:p.T75T,ENSG00000171444:ENST00000515367:exon3:c.A36G:p.T12T,ENSG00000171444:ENST00000408903:exon5:c.A795G:p.T265T NA NA 5q22.2 NA NA NA NA rs2227949 1 1 0.998 0.994209 1 1 0.9986 0.9788 1 1 1 1 0.99 0.9984 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.724895 NA NA 0.999884 0.985241 NA 0.993 NA 2.6683826 1393 19 44419030 44419030 A G exonic ZNF45 NA synonymous SNV ZNF45:NM_003425:exon10:c.T558C:p.H186H exonic ENSG00000124459 NA synonymous SNV ENSG00000124459:ENST00000589703:exon4:c.T558C:p.H186H,ENSG00000124459:ENST00000269973:exon10:c.T558C:p.H186H NA NA 19q13.31 NA NA NA NA rs420242 0.99 0.99 0.992 0.99401 1 1 0.9986 0.9781 1 1 1 1 0.98 0.9984 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18795 NA NA 0.999884 0.981843 NA 1 NA 2.6683826 1393 8 144732363 144732363 T C exonic ZNF623 NA synonymous SNV ZNF623:NM_014789:exon1:c.T321C:p.N107N,ZNF623:NM_001082480:exon2:c.T201C:p.N67N,ZNF623:NM_001261843:exon2:c.T201C:p.N67N exonic ENSG00000183309 NA synonymous SNV ENSG00000183309:ENST00000501748:exon1:c.T321C:p.N107N,ENSG00000183309:ENST00000458270:exon2:c.T201C:p.N67N,ENSG00000183309:ENST00000526926:exon2:c.T201C:p.N67N NA NA 8q24.3 NA NA NA NA rs4875017 1 1 0.994 0.995407 1 1 1 0.9826 1 1 1 1 0.98 0.9983 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.020618 NA NA 1 0.9798 NA 1 NA 2.6683666 1393 2 209191099 209191099 T C exonic PIKFYVE NA synonymous SNV PIKFYVE:NM_015040:exon20:c.T3564C:p.N1188N exonic ENSG00000115020 NA synonymous SNV ENSG00000115020:ENST00000452564:exon19:c.T3396C:p.N1132N,ENSG00000115020:ENST00000264380:exon20:c.T3564C:p.N1188N NA NA 2q34 NA NA NA NA rs1529978 1 1 0.995 0.996006 1 1 0.9986 0.9856 1 1 1 1 0.98 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 -2.161697 NA NA 0.999884 0.98434 NA 1 NA 2.6682826 1393 5 43492978 43492978 G A exonic C5orf34 NA synonymous SNV C5orf34:NM_198566:exon9:c.C1329T:p.N443N exonic ENSG00000172244 NA synonymous SNV ENSG00000172244:ENST00000306862:exon9:c.C1329T:p.N443N NA NA 5p12 NA NA NA NA rs10039298 0.99 0.99 0.995 0.99401 1 1 0.9986 0.9781 1 1 1 1 0.97 0.9984 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.294334 NA NA 1 0.984113 NA 1 NA 2.6682666 1393 9 119495697 119495697 T C exonic ASTN2 NA synonymous SNV ASTN2:NM_014010:exon13:c.A2349G:p.P783P exonic ENSG00000148219 NA synonymous SNV ENSG00000148219:ENST00000373986:exon12:c.A1671G:p.P557P,ENSG00000148219:ENST00000361209:exon13:c.A2349G:p.P783P,ENSG00000148219:ENST00000313400:exon14:c.A2502G:p.P834P,ENSG00000148219:ENST00000373996:exon14:c.A2490G:p.P830P NA NA 9q33.1 NA NA NA NA rs7863560 0.99 0.99 0.992 0.992412 1 1 0.9971 0.9728 1 1 1 1 0.97 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 1.03761 NA NA 1 0.985701 NA 0.993 NA 2.6681666 1393 15 55710369 55710369 T A ncRNA_intronic DYX1C1-CCPG1 NA NA NA ncRNA_intronic ENSG00000261771 NA NA NA NA NA 15q21.3 NA NA Name=2 NA rs6493785 1 1 0.989 0.995008 1 1 1 0.9811 1 1 1 1 0.98 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 -0.133152 NA NA 1 0.983128 NA 0.993 NA 2.6681666 1393 11 47238522 47238522 T C exonic DDB2 NA synonymous SNV DDB2:NM_000107:exon3:c.T378C:p.T126T exonic ENSG00000134574 NA synonymous SNV ENSG00000134574:ENST00000256996:exon3:c.T378C:p.T126T,ENSG00000134574:ENST00000378600:exon3:c.T378C:p.T126T,ENSG00000134574:ENST00000378601:exon3:c.T378C:p.T126T NA NA 11p11.2 NA NA NA NA rs326212 1 1 0.997 0.994209 1 1 0.9986 0.9788 1 1 1 1 0.99 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.686849 NA NA 1 0.986143 NA 1 NA 2.6679666 1393 3 111356083 111356083 G C exonic CD96 NA synonymous SNV CD96:NM_005816:exon11:c.G1362C:p.P454P,CD96:NM_198196:exon12:c.G1410C:p.P470P exonic ENSG00000153283 NA synonymous SNV ENSG00000153283:ENST00000352690:exon11:c.G1362C:p.P454P,ENSG00000153283:ENST00000494798:exon11:c.G1359C:p.P453P,ENSG00000153283:ENST00000283285:exon12:c.G1410C:p.P470P NA NA 3q13.2 NA NA NA NA rs1533270 1 1 1 0.996605 1 1 0.9986 0.9879 1 1 1 1 0.99 0.9988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.231139 NA NA 1 0.986382 NA 0.978 NA 2.6678666 1393 4 8621194 8621194 A G exonic CPZ NA synonymous SNV CPZ:NM_003652:exon10:c.A1776G:p.P592P,CPZ:NM_001014447:exon11:c.A1809G:p.P603P,CPZ:NM_001014448:exon11:c.A1398G:p.P466P exonic ENSG00000109625 NA synonymous SNV ENSG00000109625:ENST00000429646:exon9:c.A633G:p.P211P,ENSG00000109625:ENST00000315782:exon10:c.A1776G:p.P592P,ENSG00000109625:ENST00000360986:exon11:c.A1809G:p.P603P,ENSG00000109625:ENST00000382480:exon11:c.A1398G:p.P466P NA NA 4p16.1 NA NA NA NA rs28514374 1 1 1 0.995407 1 0.999 1 0.9834 1 1 1 1 0.99 0.9988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.249796 NA NA 1 0.98956 NA 0.986 NA 2.6678666 1393 11 46914598 46914598 A G exonic LRP4 NA synonymous SNV LRP4:NM_002334:exon13:c.T1623C:p.D541D exonic ENSG00000134569 NA synonymous SNV ENSG00000134569:ENST00000378623:exon13:c.T1623C:p.D541D NA NA 11p11.2 NA NA NA NA rs10769215 1 1 0.996 0.994609 1 1 0.9986 0.9803 1 1 1 1 0.99 0.9989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.902018 NA NA 1 0.987506 NA 1 NA 2.6677666 1393 11 55587117 55587117 T A exonic OR5D18 NA synonymous SNV OR5D18:NM_001001952:exon1:c.T12A:p.T4T exonic ENSG00000186119 NA synonymous SNV ENSG00000186119:ENST00000333976:exon1:c.T12A:p.T4T NA NA 11q11 NA NA NA NA rs297082 1 1 0.995 0.996605 1 1 1 0.9871 1 1 1 1 0.98 0.9989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.156458 NA NA 1 0.989773 NA 1 NA 2.6677666 1393 22 30202774 30202774 G C intronic ASCC2 NA NA NA intronic ENSG00000100325 NA NA NA NA NA 22q12.2 NA NA NA NA rs737945 0.52 0.52 0.538 0.465256 0.4602 0.6538 0.353 0.5552 0.2342 0.47 0.67 0.37 0.5 0.4328 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 -0.314395 NA NA 0.439419 0.513391 NA 0.471 NA 2.667581 1393 3 108403086 108403086 T C exonic DZIP3 NA synonymous SNV DZIP3:NM_014648:exon27:c.T2907C:p.P969P exonic ENSG00000198919 NA synonymous SNV ENSG00000198919:ENST00000361582:exon27:c.T2907C:p.P969P,ENSG00000198919:ENST00000463306:exon27:c.T2907C:p.P969P NA NA 3q13.13 NA NA NA NA rs9856097 1 1 0.999 0.998403 1 1 1 0.9947 0.999 1 1 1 0.99 0.9991 1 NA NA 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 1 0.992056 NA 0.978 NA 2.6675666 1393 1 154575040 154575040 C T exonic ADAR NA synonymous SNV ADAR:NM_001111:exon2:c.G78A:p.R26R,ADAR:NM_015840:exon2:c.G78A:p.R26R,ADAR:NM_015841:exon2:c.G78A:p.R26R exonic ENSG00000160710 NA synonymous SNV ENSG00000160710:ENST00000529168:exon1:c.G63A:p.R21R,ENSG00000160710:ENST00000292205:exon2:c.G207A:p.R69R,ENSG00000160710:ENST00000368474:exon2:c.G78A:p.R26R NA NA 1q21.3 NA NA NA NA rs1802645 1 1 0.998 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 0.172253 NA NA 1 0.991602 NA 1 NA 2.6674666 1393 8 15978063 15978063 C T exonic MSR1 NA synonymous SNV MSR1:NM_138715:exon9:c.G1086A:p.R362R exonic ENSG00000038945 NA synonymous SNV ENSG00000038945:ENST00000262101:exon9:c.G1086A:p.R362R,ENSG00000038945:ENST00000445506:exon9:c.G1140A:p.R380R NA NA 8p22 NA NA NA NA rs4338104 1 1 0.998 0.997404 1 1 1 0.9902 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 -1.028703 NA NA 1 0.99251 NA 0.978 NA 2.6674666 1393 12 47168898 47168898 G A exonic SLC38A4 NA synonymous SNV SLC38A4:NM_001143824:exon13:c.C1233T:p.P411P,SLC38A4:NM_018018:exon14:c.C1233T:p.P411P exonic ENSG00000139209 NA synonymous SNV ENSG00000139209:ENST00000447411:exon13:c.C1233T:p.P411P,ENSG00000139209:ENST00000266579:exon14:c.C1233T:p.P411P NA NA 12q13.11 NA NA NA NA rs180414 1 1 0.998 0.997404 1 1 0.9986 0.9909 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 -0.106888 NA NA 1 0.990921 NA 1 NA 2.6674666 1393 13 53035783 53035783 T C exonic CKAP2 NA synonymous SNV CKAP2:NM_001098525:exon4:c.T825C:p.T275T,CKAP2:NM_018204:exon4:c.T822C:p.T274T exonic ENSG00000136108 NA synonymous SNV ENSG00000136108:ENST00000258607:exon4:c.T822C:p.T274T,ENSG00000136108:ENST00000378034:exon4:c.T822C:p.T274T,ENSG00000136108:ENST00000378037:exon4:c.T825C:p.T275T,ENSG00000136108:ENST00000490903:exon4:c.T678C:p.T226T NA NA 13q14.3 NA NA NA NA rs7337054 1 1 0.998 0.997404 1 1 0.9971 0.9917 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 -1.209481 NA NA 1 0.991375 NA 1 NA 2.6674666 1393 12 113385918 113385918 C T intronic OAS3 NA NA NA ncRNA_intronic ENSG00000257452 NA NA NA NA NA 12q24.13 NA NA NA NA rs7961861 0.65 0.65 0.638 0.669728 0.5149 0.9028 0.6844 0.6051 0.6656 0.53 0.89 0.64 0.57 0.6186 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 -0.76885 NA NA 0.532419 0.60666 NA 0.609 NA 2.6674143 1393 8 22079355 22079355 A G exonic PHYHIP NA synonymous SNV PHYHIP:NM_014759:exon5:c.T504C:p.S168S,PHYHIP:NM_001099335:exon6:c.T504C:p.S168S exonic ENSG00000168490 NA synonymous SNV ENSG00000168490:ENST00000523252:exon4:c.T360C:p.S120S,ENSG00000168490:ENST00000454243:exon5:c.T504C:p.S168S,ENSG00000168490:ENST00000321613:exon6:c.T504C:p.S168S NA NA 8p21.3 NA NA NA NA rs4872422 1 1 0.997 0.997204 1 0.9861 1 1 1 1 0.99 1 1 0.9994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.937633 NA NA 0.99988 0.999511 NA 1 NA 2.6673866 1393 2 182399638 182399638 A G exonic ITGA4 NA synonymous SNV ITGA4:NM_000885:exon27:c.A2979G:p.L993L exonic ENSG00000115232 NA synonymous SNV ENSG00000115232:ENST00000397033:exon27:c.A2979G:p.L993L NA NA 2q31.3 NA NA NA NA rs2124443 1 1 0.997 0.997404 1 1 1 0.9902 1 1 1 1 0.99 0.9994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.537149 NA NA 1 0.995944 NA 1 NA 2.6672666 1393 11 68822739 68822739 T C exonic TPCN2 NA synonymous SNV TPCN2:NM_139075:exon4:c.T348C:p.A116A exonic ENSG00000162341 NA synonymous SNV ENSG00000162341:ENST00000294309:exon4:c.T348C:p.A116A,ENSG00000162341:ENST00000542467:exon4:c.T348C:p.A116A NA NA 11q13.3 NA NA NA NA rs1470892 1 1 1 0.998802 1 1 1 0.9955 1 1 1 1 0.99 0.9994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.63628 NA NA 1 0.9925 NA 0.92 NA 2.6672666 1393 6 29798140 29798140 A G intronic HLA-G NA NA NA intronic ENSG00000204632 NA NA NA NA NA 6p22.1 NA NA NA NA rs915667 0.49 0.49 0.484 0.527356 0.4115 0.5972 0.4539 0.4985 0.6656 0.4 0.63 0.45 0.49 0.4798 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.888653 NA NA 0.441491 0.500662 NA 0.558 NA 2.667209 1393 11 67434416 67434416 C A UTR5 ALDH3B2 NM_000695:c.-10G>T,NM_001031615:c.-10G>T NA NA UTR5 ENSG00000132746 ENST00000530069:c.-10G>T,ENST00000349015:c.-10G>T,ENST00000525827:c.-10G>T,ENST00000528756:c.-10G>T NA NA Score=343;Name=lod=33 NA 11q13.2 NA NA NA NA rs4646823 0.82 0.82 0.787 0.805911 0.8847 0.8819 0.9035 0.5333 0.9458 0.89 0.92 0.89 0.55 0.883 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 1.792838 1.792838 NA 0.898463 0.572273 NA 0.804 NA 2.6671704 1393 9 126144758 126144758 T C exonic DENND1A NA synonymous SNV DENND1A:NM_020946:exon22:c.A1983G:p.S661S exonic ENSG00000119522 NA synonymous SNV ENSG00000119522:ENST00000542603:exon14:c.A1338G:p.S446S,ENSG00000119522:ENST00000394219:exon21:c.A2016G:p.S672S,ENSG00000119522:ENST00000373624:exon22:c.A1983G:p.S661S NA NA 9q33.3 NA NA NA NA rs2808409 1 1 0.995 0.998003 1 1 1 0.9924 1 1 1 1 0.99 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 -1.508463 NA NA 1 0.995234 NA 0.993 NA 2.6671666 1393 1 236721731 236721731 T C exonic HEATR1 NA synonymous SNV HEATR1:NM_018072:exon36:c.A5010G:p.A1670A exonic ENSG00000119285 NA synonymous SNV ENSG00000119285:ENST00000366581:exon35:c.A4767G:p.A1589A,ENSG00000119285:ENST00000366582:exon36:c.A5010G:p.A1670A NA NA 1q43 NA NA NA NA rs819431 1 1 1 0.999601 1 1 1 0.9985 1 1 1 1 1 0.9996 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.968167 NA NA 1 0.996142 NA 1 NA 2.6670666 1393 2 227895125 227895125 A G intronic COL4A4 NA NA NA intronic ENSG00000081052 NA NA NA NA NA 2q36.3 NA NA NA NA rs1917127 0.45 0.45 0.437 0.496605 0.4384 0.4038 0.4769 0.5651 0.5736 0.44 0.4 0.47 0.52 0.4722 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.121443 NA NA 0.422414 0.522584 NA 0.471 NA 2.666986 1393 1 91851253 91851253 T C exonic HFM1 NA synonymous SNV HFM1:NM_001017975:exon5:c.A633G:p.Q211Q exonic ENSG00000162669 NA synonymous SNV ENSG00000162669:ENST00000448819:exon3:c.A210G:p.Q70Q,ENSG00000162669:ENST00000427444:exon4:c.A507G:p.Q169Q,ENSG00000162669:ENST00000370425:exon5:c.A633G:p.Q211Q NA NA 1p22.2 NA NA NA NA rs282026 1 1 0.996 0.999201 1 1 1 0.997 1 1 1 1 0.99 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.576658 NA NA 1 0.997049 NA 0.993 NA 2.6669666 1393 15 30008856 30008856 C A exonic TJP1 NA synonymous SNV TJP1:NM_175610:exon22:c.G3921T:p.A1307A,TJP1:NM_003257:exon23:c.G4161T:p.A1387A exonic ENSG00000104067 NA synonymous SNV ENSG00000104067:ENST00000545208:exon22:c.G3921T:p.A1307A,ENSG00000104067:ENST00000346128:exon23:c.G4161T:p.A1387A,ENSG00000104067:ENST00000356107:exon23:c.G4161T:p.A1387A,ENSG00000104067:ENST00000400011:exon23:c.G3933T:p.A1311A NA NA 15q13.1 NA NA NA NA rs7166878 1 1 1 0.998403 1 1 1 0.9939 1 1 1 1 0.99 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.068867 NA NA 1 0.99756 NA 0.993 NA 2.6669666 1393 19 16976286 16976286 A G exonic SIN3B NA synonymous SNV SIN3B:NM_015260:exon12:c.A1545G:p.L515L exonic ENSG00000127511 NA synonymous SNV ENSG00000127511:ENST00000595541:exon2:c.A219G:p.L73L,ENSG00000127511:ENST00000248054:exon11:c.A1449G:p.L483L,ENSG00000127511:ENST00000379803:exon12:c.A1545G:p.L515L NA NA 19p13.11 NA NA NA NA rs773911 1 1 1 0.998203 1 0.9911 1 1 1 1 0.99 1 1 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.089475 NA NA 1 0.999773 NA 0.993 NA 2.6669666 1393 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 1393 10 125426565 125426565 G C exonic GPR26 NA synonymous SNV GPR26:NM_153442:exon1:c.G642C:p.L214L exonic ENSG00000154478 NA synonymous SNV ENSG00000154478:ENST00000284674:exon1:c.G642C:p.L214L NA NA 10q26.13 NA NA NA NA rs4980313 1 1 1 0.998802 1 1 1 0.9955 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 0.656451 NA NA 0.999884 0.999773 NA 0.877 NA 2.6668826 1393 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 1393 9 37503124 37503124 G A exonic POLR1E NA synonymous SNV POLR1E:NM_022490:exon12:c.G1185A:p.K395K exonic ENSG00000137054 NA synonymous SNV ENSG00000137054:ENST00000377792:exon11:c.G1371A:p.K457K,ENSG00000137054:ENST00000377798:exon12:c.G1185A:p.K395K,ENSG00000137054:ENST00000442009:exon13:c.G975A:p.K325K NA NA 9p13.2 NA NA NA NA rs7047823 1 1 1 0.999201 1 1 1 0.997 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 0.957308 NA NA 1 0.996823 NA 1 NA 2.6668666 1393 17 3427442 3427442 A G intronic TRPV3 NA NA NA intronic ENSG00000167723 NA NA NA NA NA 17p13.2 NA NA NA NA rs62069862 0.26 0.26 0.205 0.222244 0.4732 0.0357 0.3689 0.0484 0.2873 0.47 0.03 0.41 0.06 0.3802 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.560052 NA NA 0.479767 0.124603 NA 0.203 NA 2.666833 1393 15 79217690 79217690 G C exonic CTSH NA synonymous SNV CTSH:NM_004390:exon10:c.C792G:p.T264T exonic ENSG00000103811 NA synonymous SNV ENSG00000103811:ENST00000220166:exon10:c.C792G:p.T264T NA NA 15q25.1 NA NA NA NA rs2044226 1 1 1 0.999601 1 1 1 0.9985 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 -1.32174 NA NA 1 0.997951 NA 0.986 NA 2.6667666 1393 11 63313644 63313644 T C exonic RARRES3 NA synonymous SNV RARRES3:NM_004585:exon4:c.T411C:p.V137V exonic ENSG00000133321 NA synonymous SNV ENSG00000133321:ENST00000255688:exon4:c.T411C:p.V137V,ENSG00000133321:ENST00000354445:exon4:c.T411C:p.V137V NA NA 11q12.3 NA NA NA NA rs584905 1 1 1 1 1 1 1 1 1 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 -0.402193 NA NA 1 0.999756 NA 1 NA 2.6666666 1393 13 111155428 111155428 C T ncRNA_intronic COL4A2-AS1 NA NA NA ncRNA_intronic ENSG00000232814 NA NA NA NA NA 13q34 NA NA NA NA rs401316 1 1 1 1 1 1 1 1 1 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 -0.59977 NA NA NA NA NA 1 NA 2.6666666 1393 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 1393 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 1393 16 76496025 76496025 A G intronic CNTNAP4 NA NA NA intronic ENSG00000152910 NA NA NA NA NA 16q23.1 NA NA NA NA rs57292037 0.35 0.35 0.328 0.347045 0.4463 0.4137 0.3501 0.1558 0.4325 0.45 0.43 0.32 0.13 0.4286 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289878 NA NA 0.458944 0.216333 NA 0.326 NA 2.666156 1393 20 30347832 30347832 A G intronic TPX2 NA NA NA intronic ENSG00000088325 NA NA NA NA NA 20q11.21 NA NA NA NA rs6060930 0.56 0.56 0.567 0.542133 0.4414 0.3988 0.4885 0.9183 0.3231 0.45 0.42 0.51 0.92 0.4654 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 0.699491 NA NA 0.427093 0.813436 NA 0.587 NA 2.666107 1393 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 1393 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 1393 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 1393 3 52558904 52558904 A T intronic NT5DC2 NA NA NA intronic ENSG00000168268 NA NA NA NA NA 3p21.1 NA NA NA NA rs34005367 0.41 0.41 0.411 0.332268 0.4602 0.4266 0.4957 0.1498 0.2342 0.46 0.49 0.5 0.17 0.4162 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.730081 NA NA 0.457791 0.183613 NA 0.225 NA 2.665809 1393 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 1394 10 33137515 33137515 T G intronic C10orf68 NA NA NA intronic ENSG00000150076 NA NA NA NA NA 10p11.22 NA NA NA NA rs2488294 0.26 0.26 0.239 0.219449 0.4632 0.0952 0.3141 0.0227 0.2955 0.48 0.1 0.34 0.03 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 -0.344186 NA NA 0.479206 0.108963 NA 0.225 NA 2.664994 1394 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 1394 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 1394 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 1394 4 7684661 7684661 C A intronic SORCS2 NA NA NA intronic ENSG00000184985 NA NA NA NA NA 4p16.1 NA NA NA NA rs4689821 0.54 0.54 0.105 0.642572 0.6203 0.7014 0.647 0.6959 0.5297 0.49 0.6 0.56 0.54 0.6243 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.240834 NA NA 0.090931 0.118691 NA NA NA 2.664469 1394 6 116836720 116836720 G A intronic FAM26E,TRAPPC3L NA NA NA intronic ENSG00000173626,ENSG00000178033 NA NA NA NA NA 6q22.1 NA NA NA NA rs881863 0.41 0.41 0.363 0.376198 0.4404 0.5516 0.5591 0.1225 0.3425 0.43 0.56 0.54 0.13 0.4409 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678708 NA NA 0.454419 0.187472 NA 0.348 NA 2.664281 1394 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 1394 6 50712784 50712784 A G intronic TFAP2D NA NA NA intronic ENSG00000008197 NA NA NA NA NA 6p12.3 NA NA NA NA rs3765306 0.46 0.46 0.467 0.455671 0.4583 0.4286 0.353 0.5983 0.3609 0.44 0.47 0.38 0.56 0.4253 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.188521 NA NA 0.453023 0.578302 NA 0.464 NA 2.663377 1394 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 1394 17 40146970 40146970 G A intronic DNAJC7 NA NA NA UTR3 ENSG00000168259 ENST00000588814:c.*23C>T NA NA Score=251;Name=lod=14 NA 17q21.2 NA NA NA NA rs6503679 0.76 0.76 0.722 0.738419 0.8241 0.876 0.879 0.4251 0.8323 0.82 0.87 0.86 0.46 0.8279 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 0.460295 NA NA 0.85227 0.515351 NA 0.783 NA 2.6623967 1394 9 136305439 136305439 G A intronic ADAMTS13 NA NA NA intronic ENSG00000160323 NA NA NA NA NA 9q34.2 NA NA NA NA rs2073932 0.52 0.52 0.52 0.514177 0.4215 0.8115 0.4726 0.3646 0.5348 0.42 0.81 0.49 0.38 0.4717 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 -0.363628 NA NA 0.444419 0.352928 NA 0.428 NA 2.662381 1394 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 1394 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 1394 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 1394 1 86252025 86252025 A G intronic COL24A1 NA NA NA intronic ENSG00000171502 NA NA NA NA NA 1p22.3 NA NA NA NA rs12746325 0.29 0.29 0.272 0.244209 0.4712 0.0694 0.2752 0.1573 0.2863 0.49 0.06 0.33 0.22 0.3852 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.988591 2.988591 NA 0.48178 0.253506 ID=COSN163144;OCCURENCE=1(breast) 0.428 NA 2.66182 1394 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 1394 2 227896652 227896652 C G intronic COL4A4 NA NA NA intronic ENSG00000081052 NA NA NA NA NA 2q36.3 NA NA NA NA rs13423714 0.45 0.45 0.426 0.496006 0.4384 0.4038 0.4784 0.5613 0.5746 0.44 0.4 0.47 0.52 0.4801 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080253 NA NA 0.42013 0.517976 NA 0.471 NA 2.66137 1394 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 1394 1 159897126 159897126 C T UTR3 IGSF9 NM_001135050:c.*9G>A,NM_020789:c.*9G>A NA NA UTR3 ENSG00000085552 ENST00000368094:c.*9G>A,ENST00000361509:c.*9G>A NA NA NA NA 1q23.2 NA NA NA NA rs13052 0.65 0.65 0.628 0.667332 0.5547 0.7143 0.6268 0.7663 0.6299 0.55 0.75 0.58 0.74 0.5858 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 0.028852 NA NA 0.532126 0.728682 NA 0.616 NA 2.6607074 1394 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 1394 20 3209371 3209371 G A intronic SLC4A11 NA NA NA intronic ENSG00000088836 NA NA NA NA NA 20p13 NA NA NA NA rs2281575 0.47 0.47 0.471 0.494209 0.4702 0.7133 0.3746 0.3275 0.6033 0.46 0.69 0.4 0.31 0.4477 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 -2.091662 NA NA 0.422155 0.339018 NA 0.348 NA 2.659945 1394 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 1394 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 1394 8 28984042 28984042 T C intronic KIF13B NA NA NA ncRNA_intronic ENSG00000254129 NA NA NA NA NA 8p12 NA NA NA NA rs3793435 0.37 0.37 0.336 0.335463 0.5755 0.1458 0.3732 0.2284 0.4018 0.58 0.16 0.39 0.3 0.537 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060448 NA NA 0.563159 0.27474 NA 0.275 NA 2.6576743 1394 8 143381810 143381810 T C intronic TSNARE1 NA NA NA intronic ENSG00000171045 NA NA NA NA NA 8q24.3 NA NA NA NA rs7822013 0.53 0.53 0.515 0.561901 0.4294 0.5347 0.5187 0.7216 0.5409 0.42 0.58 0.5 0.68 0.4789 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 -0.794409 NA NA 0.434186 0.699955 NA 0.58 NA 2.657514 1394 5 68602746 68602746 G C intronic CCDC125 NA NA NA intronic ENSG00000183323 NA NA NA NA NA 5q13.2 NA NA NA NA rs6881767 0.41 0.41 0.391 0.408546 0.4433 0.4087 0.4856 0.3215 0.4356 0.44 0.45 0.43 0.31 0.4508 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.004702 NA NA 0.44879 0.343504 NA 0.486 NA 2.65711 1394 8 2024405 2024405 G A intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs3817698 0.42 0.42 0.405 0.424121 0.4533 0.378 0.4697 0.3994 0.4427 0.45 0.42 0.43 0.39 0.4466 0.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.418761 NA NA 0.44394 0.406945 NA 0.384 NA 2.65616 1394 17 6373737 6373737 C T intronic PITPNM3 NA NA NA intronic ENSG00000091622 NA NA NA NA NA 17p13.2 NA NA NA NA rs11654175 0.32 0.32 0.327 0.270767 0.5 0.1825 0.3184 0.1732 0.2239 0.49 0.19 0.35 0.17 0.3739 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.315151 NA NA 0.470116 0.200862 NA 0.391 NA 2.655984 1394 10 73765773 73765773 T G intronic CHST3 NA NA NA intronic ENSG00000122863 NA NA NA NA NA 10q22.1 NA NA NA NA rs11000129 0.3 0.3 0.264 0.273762 0.4732 0.0972 0.3991 0.1899 0.2751 0.46 0.1 0.4 0.21 0.3944 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.437746 NA NA 0.47686 0.240808 NA 0.348 NA 2.65554 1394 5 108516629 108516629 A G intronic FER NA NA NA intronic ENSG00000151422 NA NA NA NA NA 5q21.3 NA NA Name=2 NA rs6594349 0.74 0.74 0.739 0.7498 0.7913 0.5992 0.6873 0.8132 0.8211 0.78 0.6 0.72 0.85 0.7648 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 0.188542 NA NA 0.788605 0.823115 NA 0.623 NA 2.655295 1394 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 1395 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 1395 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 1395 21 46685592 46685592 C G UTR3 POFUT2 NM_015227:c.*1774G>C NA NA UTR3 ENSG00000186866 ENST00000331343:c.*1774G>C NA NA NA NA 21q22.3 NA NA NA NA rs1006887 0.74 0.74 0.766 0.745607 0.5656 0.8006 0.7334 0.9743 0.5736 0.6 0.77 0.7 0.94 0.5849 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 -0.722359 NA NA 0.528974 0.872567 NA 0.536 NA 2.6538594 1395 14 24909281 24909281 C T UTR3 KHNYN,SDR39U1 NM_015299:c.*2790C>T;NM_020195:c.*8G>A NA NA UTR3 ENSG00000100441,ENSG00000100445 ENST00000251343:c.*2790C>T;ENST00000399395:c.*8G>A,ENST00000399390:c.*8G>A,ENST00000553930:c.*8G>A,ENST00000538105:c.*8G>A,ENST00000554698:c.*8G>A,ENST00000555365:c.*8G>A NA NA NA NA 14q12 NA NA Name=8 NA rs1043839 0.8 0.8 0.78 0.765176 0.9046 0.8393 0.8516 0.4667 0.8875 0.92 0.83 0.86 0.54 0.8629 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 0.307352 NA NA 0.912658 0.547817 NA 0.783 NA 2.6531754 1395 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 1395 3 52546820 52546820 C T intronic STAB1 NA NA NA intronic ENSG00000010327 NA NA NA NA NA 3p21.1 NA NA NA NA rs2015971 0.42 0.42 0.41 0.341853 0.4612 0.4454 0.5504 0.1415 0.2352 0.46 0.51 0.54 0.16 0.4254 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.939648 NA NA 0.460796 0.179172 NA 0.246 NA 2.652604 1395 1 205084120 205084120 G A intronic RBBP5 NA NA NA intronic ENSG00000117222 NA NA NA NA NA 1q32.1 NA NA NA NA rs7515178 0.32 0.32 0.325 0.304113 0.4742 0.0655 0.2997 0.3956 0.2546 0.46 0.07 0.36 0.36 0.4175 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.71678 1.71678 NA 0.456588 0.391947 NA 0.449 NA 2.651712 1395 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 1395 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 1395 18 28605715 28605715 A T intronic DSC3 NA NA NA intronic ENSG00000134762 NA NA NA NA NA 18q12.1 NA NA NA NA rs202439 0.55 0.55 0.519 0.572484 0.4274 0.8839 0.5029 0.4221 0.6534 0.42 0.87 0.51 0.42 0.5045 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 0.719671 NA NA 0.41812 0.418747 NA 0.486 NA 2.64998 1395 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 1395 13 38153351 38153351 T C intronic POSTN NA NA NA intronic ENSG00000133110 NA NA NA NA NA 13q13.3 NA NA NA NA rs7323378 0.38 0.38 0.348 0.361621 0.4751 0.1359 0.4496 0.4168 0.3405 0.5 0.16 0.44 0.4 0.4132 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.027541 NA NA 0.462093 0.403087 NA 0.507 NA 2.649607 1395 6 32810443 32810443 G A intronic PSMB8 NA NA NA intronic ENSG00000204264 NA NA NA NA NA 6p21.32 NA NA NA NA rs9276810 0.41 0.41 0.401 0.435503 0.4592 0.4484 0.438 0.3729 0.4806 0.46 0.38 0.43 0.33 0.4448 0.46 NA NA 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 0.446512 0.40581 NA 0.5 NA 2.649488 1395 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 1395 16 81816733 81816733 C T intronic PLCG2 NA NA NA intronic ENSG00000197943 NA NA NA NA NA 16q23.3 NA NA NA NA rs8045964 0.38 0.38 0.386 0.424121 0.4105 0.2718 0.3429 0.4297 0.6452 0.43 0.31 0.35 0.42 0.5194 0.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303005 NA NA 0.423077 0.390982 NA 0.333 NA 2.647023 1395 7 48018455 48018455 T A intronic HUS1 NA NA NA UTR5 ENSG00000136273 ENST00000433977:c.-53A>T NA NA NA NA 7p12.3 NA NA NA NA rs2242479 0.47 0.47 0.454 0.433307 0.5199 0.5129 0.4942 0.3154 0.3783 0.54 0.49 0.49 0.34 0.4897 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.058934 NA NA 0.510465 0.340899 NA 0.58 NA 2.6466017 1395 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 1395 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 1395 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 1395 10 436848 436848 A G intronic DIP2C NA NA NA intronic ENSG00000151240 NA NA NA NA NA 10p15.3 NA NA NA NA rs10904093 0.33 0.33 0.291 0.290935 0.4851 0.3016 0.3617 0.1029 0.2843 0.48 0.29 0.36 0.11 0.3929 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.172694 NA NA 0.476047 0.153427 NA 0.312 NA 2.645953 1395 12 133208886 133208886 C T intronic POLE NA NA NA intronic ENSG00000177084 NA NA NA NA NA 12q24.33 NA NA NA NA rs5745023 0.55 0.55 0.545 0.565096 0.4304 0.6736 0.5274 0.6112 0.5562 0.43 0.69 0.52 0.58 0.4941 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 -0.561985 NA NA 0.429884 0.578756 NA 0.522 NA 2.645616 1395 3 3076284 3076284 G C intronic CNTN4 NA NA NA intronic ENSG00000144619 NA NA NA NA NA 3p26.2 NA NA NA NA rs6765545 0.4 0.4 0.404 0.378794 0.4722 0.4266 0.3473 0.3888 0.2423 0.45 0.41 0.37 0.34 0.4165 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.670903 NA NA 0.465814 0.389015 NA 0.587 NA 2.645486 1395 1 16731647 16731647 G C intronic SPATA21 NA NA NA intronic ENSG00000187144 NA NA NA NA NA 1p36.13 NA NA NA NA rs526481 0.47 0.47 0.452 0.462859 0.5348 0.6796 0.4107 0.3011 0.4213 0.48 0.67 0.42 0.28 0.498 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 -0.641431 NA NA 0.321819 0.176431 NA NA NA 2.645381 1395 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 1395 6 24651320 24651320 C G intronic TDP2 NA NA NA intronic ENSG00000111802 NA NA NA NA NA 6p22.3 NA NA NA NA rs3181245 0.39 0.39 0.38 0.364617 0.4573 0.2341 0.4135 0.4463 0.2587 0.46 0.24 0.4 0.44 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 -1.07758 NA NA 0.478595 0.457292 NA 0.449 NA 2.645205 1395 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 1396 12 133250118 133250118 C T intronic POLE NA NA NA intronic ENSG00000177084 NA NA NA NA NA 12q24.33 NA NA NA NA rs4883555 0.56 0.56 0.536 0.576478 0.4294 0.6736 0.5288 0.6551 0.5552 0.43 0.69 0.52 0.64 0.4957 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 0.192514 NA NA 0.4302 0.614389 NA 0.514 NA 2.6447 1396 1 53974987 53974987 G T intronic GLIS1 NA NA NA intronic ENSG00000174332 NA NA NA NA NA 1p32.3 NA NA Name=64 NA rs10749691 0.61 0.61 0.6 0.59385 0.8101 0.5248 0.6744 0.3222 0.7526 0.81 0.53 0.72 0.33 0.7379 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 -0.052402 NA NA 0.807638 0.410461 NA 0.688 NA 2.644362 1396 12 113533124 113533124 C T intronic DTX1 NA NA NA intronic ENSG00000135144 NA NA NA Score=555;Name=lod=241 NA 12q24.13 NA NA NA NA rs2243396 0.8 0.8 0.765 0.801318 0.7823 0.7639 0.8718 0.8185 0.7863 0.77 0.77 0.87 0.83 0.7901 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 -0.28047 NA NA 0.783256 0.794825 NA 0.812 NA 2.644344 1396 12 133238076 133238076 T C intronic POLE NA NA NA intronic ENSG00000177084 NA NA NA NA NA 12q24.33 NA NA NA NA rs5744844 0.56 0.56 0.555 0.577276 0.4304 0.6736 0.5288 0.6558 0.5573 0.43 0.69 0.52 0.63 0.4955 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 0.2796 NA NA 0.430116 0.614843 NA 0.529 NA 2.643984 1396 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 1396 12 113544874 113544874 C T intronic RASAL1 NA NA NA intronic ENSG00000111344 NA NA NA NA NA 12q24.13 NA Name=PU.1 NA NA rs2468355 0.8 0.8 0.768 0.804712 0.7813 0.7907 0.8674 0.8064 0.7965 0.77 0.8 0.86 0.82 0.7923 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 -0.545656 NA NA 0.782791 0.78847 NA 0.819 NA 2.643609 1396 2 120889173 120889173 G C intronic EPB41L5 NA NA NA intronic ENSG00000115109 NA NA NA NA NA 2q14.2 NA NA NA NA rs3738968 0.64 0.64 NA 0.590855 0.7266 0.6756 0.6643 0.3744 0.6043 0.72 0.67 0.7 0.41 0.6298 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.180839 NA NA NA NA NA 0.71 NA 2.6436 1396 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 1396 7 83606518 83606518 G A intronic SEMA3A NA NA NA intronic ENSG00000075213 NA NA NA Score=545;Name=lod=219 NA 7q21.11 NA NA NA NA rs701320 0.86 0.86 0.867 0.872005 0.7873 0.8929 0.8487 0.9909 0.7935 0.77 0.9 0.82 0.99 0.7934 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 1.323353 1.323353 NA 0.77593 0.955969 NA 0.855 NA 2.64337 1396 12 133218724 133218724 C T intronic POLE NA NA NA intronic ENSG00000177084 NA NA NA NA NA 12q24.33 NA NA NA NA rs5744951 0.57 0.57 0.559 0.588658 0.4304 0.6736 0.5288 0.6997 0.5562 0.43 0.69 0.52 0.68 0.4963 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 0.92724 NA NA 0.43 0.645256 NA 0.543 NA 2.6433 1396 19 10218434 10218434 C T intronic PPAN,PPAN-P2RY11 NA NA NA intronic ENSG00000130810,ENSG00000243207 NA NA NA NA NA 19p13.2 NA NA NA NA rs55752217 0.38 0.38 0.361 0.364816 0.4881 0.3462 0.5115 0.1483 0.4458 0.48 0.34 0.51 0.17 0.4173 0.51 NA NA 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 0.451379 0.216512 NA 0.391 NA 2.643221 1396 11 120355230 120355230 A G intronic ARHGEF12 NA NA NA intronic ENSG00000196914 NA NA NA NA NA 11q23.3 NA NA NA NA rs503473 0.43 0.43 0.405 0.344848 0.4801 0.6151 0.3271 0.0976 0.274 0.47 0.67 0.36 0.13 0.4158 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 -0.260929 NA NA 0.461613 0.153765 NA 0.268 NA 2.642487 1396 19 8154760 8154760 T C intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs35033566 0.33 0.33 0.335 0.313698 0.4513 0.0992 0.2939 0.4115 0.2751 0.45 0.1 0.33 0.4 0.4348 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034251 NA NA 0.471478 0.432015 NA 0.29 NA 2.642422 1396 10 88213604 88213604 A G intronic WAPAL NA NA NA intronic ENSG00000062650 NA NA NA NA NA 10q23.2 NA NA NA NA rs6586011 0.38 0.38 0.39 0.417133 0.4592 0.3145 0.3386 0.3616 0.6104 0.46 0.34 0.34 0.35 0.477 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.420533 1.420533 NA 0.421512 0.366939 NA 0.304 NA 2.642288 1396 7 147259374 147259374 A G intronic CNTNAP2 NA NA NA intronic ENSG00000174469 NA NA NA NA NA 7q35 NA NA NA NA rs2074715 0.5 0.5 0.496 0.500998 0.4354 0.6419 0.4078 0.503 0.4867 0.45 0.62 0.43 0.49 0.4662 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.404994 1.404994 NA 0.456279 0.493418 NA 0.507 NA 2.642121 1396 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 1396 17 17750907 17750907 G A UTR3 TOM1L2 NM_001082968:c.*42C>T,NM_001033551:c.*42C>T NA NA UTR3 ENSG00000175662 ENST00000581396:c.*42C>T,ENST00000379504:c.*42C>T,ENST00000478943:c.*42C>T,ENST00000318094:c.*42C>T,ENST00000395739:c.*42C>T,ENST00000535933:c.*42C>T,ENST00000540946:c.*42C>T,ENST00000542206:c.*42C>T NA NA NA NA 17p11.2 NA NA NA NA rs7501812 0.37 0.37 0.381 0.327276 0.5785 0.0605 0.4236 0.3593 0.2321 0.59 0.04 0.47 0.35 0.4952 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.107436 NA NA 0.618078 0.389015 NA 0.522 NA 2.6415554 1396 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 1396 2 86509267 86509267 G A intronic REEP1 NA NA NA intronic ENSG00000068615 NA NA NA NA NA 2p11.2 NA NA NA NA rs1863058 0.44 0.44 0.407 0.405351 0.4592 0.5833 0.598 0.1082 0.4315 0.47 0.6 0.57 0.1 0.46 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.795094 1.795094 NA 0.440116 0.183386 NA 0.348 NA 2.640684 1396 1 206944233 206944233 A G intronic IL10 NA NA NA intronic ENSG00000136634 NA NA NA NA NA 1q32.1 NA Name=TBP,Pol2-4H8,Pol2 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 1396 3 186276393 186276393 C T intronic TBCCD1 NA NA NA intronic ENSG00000113838 NA NA NA NA NA 3q27.3 NA NA NA NA rs9854418 0.44 0.44 0.4 0.412141 0.4463 0.7063 0.5432 0.0242 0.5051 0.45 0.72 0.51 0.04 0.4584 0.72 NA NA 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 0.454767 0.102814 NA 0.319 NA 2.640533 1396 19 12576573 12576573 G A intronic ZNF709 NA NA NA intronic ENSG00000196826,ENSG00000242852,ENSG00000269755 NA NA NA NA NA 19p13.2 NA NA NA NA rs10404972 0.28 0.28 0.215 0.228035 0.4722 0.1171 0.4035 0.0809 0.1656 0.48 0.1 0.41 0.08 0.4153 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.103309 NA NA 0.472647 0.141979 NA 0.341 NA 2.639853 1396 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 1396 20 60848348 60848348 C T intronic OSBPL2 NA NA NA intronic ENSG00000130703 NA NA NA NA NA 20q13.33 NA NA NA NA rs2236526 0.41 0.41 0.383 0.387181 0.4583 0.5417 0.5043 0.0832 0.4826 0.45 0.55 0.52 0.11 0.4377 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.069659 NA NA 0.464186 0.148434 NA 0.37 NA 2.639814 1396 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 1396 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 1396 9 138589311 138589311 G A intronic SOHLH1 NA NA NA intronic ENSG00000165643 NA NA NA NA NA 9q34.3 NA NA NA NA rs7036532 0.31 0.31 0.321 0.304712 0.4841 0.0972 0.3689 0.2511 0.3609 0.48 0.09 0.37 0.26 0.4019 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.31123 NA NA 0.474977 0.261916 NA 0.333 NA 2.639023 1396 19 10221151 10221151 C G intronic PPAN,PPAN-P2RY11 NA NA NA intronic ENSG00000130810,ENSG00000243207 NA NA NA NA NA 19p13.2 NA NA NA NA rs2305792 0.37 0.37 0.334 0.360823 0.4901 0.3393 0.4942 0.149 0.4417 0.48 0.34 0.5 0.17 0.4179 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.391653 NA NA 0.453085 0.218636 NA 0.37 NA 2.638915 1396 12 21598264 21598264 C T intronic PYROXD1 NA NA NA intronic ENSG00000121350 NA NA NA NA NA 12p12.1 NA NA NA NA rs1963817 0.4 0.4 0.378 0.382588 0.4712 0.4742 0.4049 0.1142 0.544 0.49 0.49 0.42 0.16 0.4696 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.033641 NA NA 0.420457 0.155196 ID=COSN164189;OCCURENCE=1(breast) 0.268 NA 2.638743 1396 11 14632570 14632570 A C UTR5 PSMA1 NM_148976:c.-38T>G NA NA UTR5 ENSG00000129084 ENST00000418988:c.-38T>G NA NA NA NA 11p15.2 NA NA NA NA rs1403247 0.62 0.62 0.599 0.648363 0.5706 0.6786 0.6729 0.6914 0.6217 0.55 0.67 0.67 0.65 0.5881 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 0.215577 NA NA 0.536679 0.660682 NA 0.63 NA 2.6379544 1396 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 1396 18 34261559 34261559 T A intronic FHOD3 NA NA NA intronic ENSG00000134775 NA NA NA NA NA 18q12.2 NA NA NA NA rs542241 0.49 0.49 0.432 0.460264 0.4493 0.6438 0.4035 0.3737 0.4397 0.47 0.64 0.43 0.39 0.4873 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.754802 NA NA 0.426512 0.357694 NA 0.275 NA 2.636888 1396 11 17126670 17126670 C T intronic PIK3C2A NA NA NA intronic ENSG00000011405 NA NA NA NA NA 11p15.1 NA NA NA NA rs2052188 0.37 0.37 0.349 0.365615 0.497 0.1895 0.3862 0.379 0.3793 0.51 0.18 0.39 0.35 0.4049 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.710474 NA NA 0.462148 0.384091 NA 0.29 NA 2.635952 1396 12 27944858 27944858 G A intronic KLHL42 NA NA NA UTR3 ENSG00000087448 ENST00000543254:c.*16G>A NA NA NA NA 12p11.22 NA NA NA NA rs2288232 0.35 0.35 0.334 0.329073 0.5099 0.2371 0.4164 0.1188 0.4601 0.52 0.25 0.47 0.14 0.4779 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.556106 NA NA 0.543256 0.174081 NA 0.326 NA 2.6356107 1397 8 30539623 30539623 T G intronic GSR NA NA NA intronic ENSG00000104687 NA NA NA NA NA 8p12 Score=884;Name=V$CDC5_01 NA NA NA rs2250192 0.8 0.8 0.736 0.76278 0.7972 0.9048 0.7983 0.6324 0.7321 0.8 0.9 0.81 0.64 0.7757 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 0.473044 NA NA 0.792209 0.6401 NA 0.754 NA 2.634891 1397 5 147449855 147449855 A G intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs1423001 0.78 0.78 0.768 NA NA NA NA NA NA 0.58 0.9 0.76 0.97 0.73 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 0.693967 NA NA 0.635311 0.92171 NA 0.703 NA 2.634689 1397 5 1036521 1036521 G A intronic NKD2 NA NA NA intronic ENSG00000145506 NA NA NA NA NA 5p15.33 NA NA NA NA rs60180971 0.33 0.33 0.294 0.314097 0.4592 0.3155 0.4179 0.0575 0.4366 0.48 0.3 0.43 0.07 0.4284 0.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.223279 NA NA 0.477907 0.130958 NA 0.261 NA 2.634493 1397 8 146003567 146003567 A G intronic ZNF34 NA NA NA intronic ENSG00000196378 NA NA NA NA NA 8q24.3 NA NA NA NA rs2294120 0.44 0.44 0.389 0.427516 0.4423 0.7391 0.4914 0.0477 0.5593 0.45 0.71 0.49 0.09 0.4725 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.636876 NA NA 0.45078 0.123513 NA 0.348 NA 2.63442 1397 19 10229297 10229297 C A intronic EIF3G NA NA NA intronic ENSG00000130811 NA NA NA NA NA 19p13.2 NA NA NA NA rs11667630 0.39 0.39 0.37 0.377196 0.4911 0.3512 0.5173 0.1838 0.4489 0.48 0.34 0.51 0.21 0.4197 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.206375 NA 1 0.454884 0.24512 NA 0.377 NA 2.634316 1397 12 133363376 133363376 G T intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA NA NA 12q24.33 NA NA Name=3 NA rs7976379 0.84 0.84 0.817 0.823083 0.7734 0.9405 0.8588 0.8064 0.7505 0.78 0.94 0.85 0.82 0.8077 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 -0.513267 NA NA 0.784651 0.788016 NA 0.812 NA 2.634249 1397 6 152653037 152653037 T C intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs9478314 0.41 0.41 0.408 0.413139 0.4443 0.1319 0.6239 0.5378 0.3528 0.46 0.17 0.55 0.52 0.4608 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.575985 NA NA 0.46067 0.536413 NA 0.5 NA 2.63423 1397 4 70898953 70898953 C T UTR3 HTN3 NM_000200:c.*16C>T NA NA UTR3 ENSG00000205649 ENST00000526767:c.*16C>T,ENST00000530128:c.*16C>T,ENST00000381057:c.*16C>T NA NA NA NA 4q13.3 NA NA NA NA rs1136515 0.53 0.53 0.536 0.479832 0.5885 0.629 0.4712 0.298 0.4663 0.58 0.67 0.5 0.32 0.5282 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 -0.671532 NA NA 0.582442 0.316387 NA 0.5 NA 2.6341914 1397 12 133240782 133240782 A G intronic POLE NA NA NA intronic ENSG00000177084 NA NA NA NA NA 12q24.33 NA NA NA NA rs4883592 0.58 0.58 0.567 0.605831 0.4304 0.6756 0.5317 0.7602 0.5583 0.43 0.69 0.52 0.74 0.5048 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753784 NA NA 0.430814 0.70177 NA 0.558 NA 2.633986 1397 14 59790813 59790813 C T intronic DAAM1 NA NA NA intronic ENSG00000100592 NA NA NA NA NA 14q23.1 NA NA NA NA rs6573250 0.52 0.52 0.532 0.545327 0.4433 0.4028 0.6671 0.7368 0.4519 0.43 0.39 0.63 0.73 0.4846 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 1.09406 NA NA 0.438837 0.724694 ID=COSN164693;OCCURENCE=1(NS) 0.543 NA 2.633263 1397 1 192545099 192545099 G A intronic RGS1 NA NA NA intronic ENSG00000090104 NA NA NA NA NA 1q31.2 NA Name=WHIP,SMC3_(ab9263),USF2,Pol2,Pol2-4H8 NA NA rs7535818 0.62 0.62 0.593 0.629792 0.8091 0.6419 0.6513 0.2882 0.8793 0.81 0.59 0.69 0.33 0.7459 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 0.784595 NA NA 0.812398 0.348478 ID=COSN163375;OCCURENCE=1(breast) 0.587 NA 2.632602 1397 15 90794757 90794757 T G intronic TTLL13 NA NA NA intronic ENSG00000213471,ENSG00000261147 NA NA NA NA NA 15q26.1 NA NA NA NA rs4357917 0.59 0.59 0.592 0.628794 0.4453 0.6885 0.5994 0.7882 0.5613 0.44 0.64 0.59 0.79 0.4925 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 1.698335 1.698335 NA 0.429618 0.733515 NA 0.543 NA 2.632582 1397 22 17630389 17630389 G C intronic CECR5 NA NA NA intronic ENSG00000069998 NA NA NA NA NA 22q11.1 NA NA NA NA rs1034858 0.43 0.43 0.402 0.391573 0.4592 0.5516 0.5346 0.1301 0.409 0.48 0.58 0.48 0.17 0.4633 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.0062 NA NA 0.445207 0.159101 NA 0.406 NA 2.632293 1397 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 1397 22 43278162 43278162 T C intronic PACSIN2 NA NA NA intronic ENSG00000100266 NA NA NA NA NA 22q13.2 NA NA NA NA rs4822217 0.35 0.35 0.345 0.374401 0.4682 0.0942 0.3818 0.4811 0.4172 0.46 0.07 0.43 0.47 0.4213 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.787091 NA NA 0.478627 0.492951 NA 0.406 NA 2.631873 1397 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 1397 19 47773786 47773786 A G intronic CCDC9 NA NA NA intronic ENSG00000105321 NA NA NA NA NA 19q13.32 NA NA NA NA rs888838 0.51 0.51 0.472 0.51258 0.4314 0.6835 0.5836 0.3404 0.6022 0.45 0.65 0.55 0.39 0.5009 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.625514 NA NA 0.437326 0.317975 NA 0.457 NA 2.630374 1397 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 1397 17 48252804 48252804 T C UTR3 SGCA NM_000023:c.*6T>C,NM_001135697:c.*6T>C NA NA ncRNA_UTR3 ENSG00000108823 NA NA NA NA NA 17q21.33 NA NA Name=9 NA rs2696288 0.93 0.93 0.918 0.921925 0.9543 1 0.9697 0.7617 0.9908 0.96 1 0.97 0.79 0.9566 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.552713 NA NA 0.958858 0.799453 NA 0.92 NA 2.630242 1397 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 1397 11 10822202 10822202 G A intronic EIF4G2 NA NA NA ncRNA_intronic ENSG00000255125 NA NA NA NA NA 11p15.3 NA NA NA NA rs4910190 0.49 0.49 0.431 0.494409 0.5626 0.5764 0.6614 0.1293 0.7147 0.56 0.6 0.63 0.15 0.5753 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.791335 NA NA 0.566372 0.189459 NA 0.449 NA 2.6290613 1397 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 1397 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 1397 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 1397 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 1397 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 1397 20 61870634 61870634 A G intronic BIRC7 NA NA NA intronic ENSG00000101197 NA NA NA NA NA 20q13.33 NA NA NA NA rs1075556 0.46 0.46 0.383 0.44369 0.4423 0.4931 0.4784 0.3585 0.4847 0.46 0.52 0.49 0.38 0.4745 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.081023 NA NA 0.455424 0.365289 NA 0.42 NA 2.627776 1397 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 1397 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 1397 19 35655151 35655151 T C intronic FXYD5 NA NA NA intronic ENSG00000089327 NA NA NA Score=243;Name=lod=13 NA 19q13.12 NA NA NA NA rs1672994 0.82 0.82 0.814 0.847444 0.7833 0.8105 0.8862 0.8608 0.9059 0.78 0.82 0.88 0.86 0.8082 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 1.103934 NA NA 0.781163 0.855197 NA 0.884 NA 2.627337 1397 22 21073122 21073122 G A intronic PI4KA NA NA NA intronic ENSG00000241973 NA NA NA NA NA 22q11.21 NA NA NA NA rs1807692 0.48 0.48 0.512 0.484026 0.4742 0.5714 0.5346 0.4788 0.3753 0.42 0.55 0.49 0.48 0.4491 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.128886 NA NA 0.449535 0.464367 NA 0.167 NA 2.627165 1397 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 1397 19 47773973 47773973 T C intronic CCDC9 NA NA NA intronic ENSG00000105321 NA NA NA NA NA 19q13.32 NA NA NA NA rs888837 0.51 0.51 0.481 0.512181 0.4304 0.6825 0.5836 0.3404 0.6022 0.45 0.65 0.55 0.39 0.5186 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.691004 NA NA 0.424153 0.304529 NA 0.457 NA 2.626847 1397 13 32786416 32786416 T A intronic FRY NA NA NA intronic ENSG00000073910 NA NA NA NA NA 13q13.1 NA NA NA NA rs798983 0.39 0.39 0.401 0.383187 0.4652 0.1687 0.4539 0.5159 0.2904 0.48 0.13 0.42 0.55 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 1.291443 1.291443 NA 0.444485 0.522976 NA 0.5 NA 2.625915 1397 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 1397 12 27059224 27059224 G A intronic ASUN NA NA NA intronic ENSG00000064102 NA NA NA NA NA 12p11.23 NA Name=MafK_(SC-477),MafF_(M8194),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 1397 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 1397 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 1398 15 42144332 42144332 T C intronic SPTBN5 NA NA NA intronic ENSG00000137877 NA NA NA NA NA 15q15.1 NA Name=TBP NA NA rs1197662 0.68 0.68 0.662 0.726238 0.8161 0.3343 0.7781 0.8654 0.8129 0.81 0.31 0.77 0.86 0.7544 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 0.449808 NA NA 0.804551 0.861776 NA 0.746 NA 2.624949 1398 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 1398 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 1398 6 32709309 32709309 A G intronic HLA-DQA2 NA NA NA intronic ENSG00000237541 NA NA NA NA NA 6p21.32 NA Name=TBP,Pol2,Pol2-4H8,NFKB,TAF1 NA NA rs2051600 0.8 0.8 0.803 0.853235 0.7932 0.9117 0.8112 0.8306 0.9151 0.75 0.87 0.8 0.78 0.8135 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 -0.719186 NA NA 0.7689 0.820018 NA 0.775 NA 2.6244 1398 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 1398 13 114773126 114773126 C T intronic RASA3 NA NA NA intronic ENSG00000185989 NA NA NA NA NA 13q34 NA NA NA NA rs9562086 0.54 0.54 0.532 0.567093 0.4384 0.6012 0.4611 0.6619 0.6115 0.43 0.6 0.5 0.66 0.4946 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 -0.767632 NA NA 0.443113 0.60677 NA 0.42 NA 2.623887 1398 4 149035449 149035449 T C intronic NR3C2 NA NA NA intronic ENSG00000151623 NA NA NA NA NA 4q31.23 NA NA NA NA rs1879829 0.5 0.5 0.494 0.509185 0.4414 0.6776 0.4553 0.466 0.502 0.46 0.69 0.41 0.4 0.4872 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 3.618595 3.618595 NA 0.447558 0.450295 NA 0.406 NA 2.623842 1398 12 81533078 81533078 G C intronic ACSS3 NA NA NA intronic ENSG00000111058 NA NA NA NA NA 12q21.31 NA NA NA NA rs2107415 0.25 0.25 0.233 0.22484 0.4751 0.0784 0.3501 0.0333 0.2883 0.47 0.05 0.4 0.04 0.3957 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020524 NA NA 0.505581 0.114389 NA 0.268 NA 2.623619 1398 16 15718591 15718591 G A intronic KIAA0430 NA NA NA intronic ENSG00000166780,ENSG00000166783 NA NA NA NA NA 16p13.11 NA NA NA NA rs2071333 0.36 0.36 0.34 0.40655 0.4483 0.3333 0.4813 0.3033 0.5256 0.45 0.29 0.46 0.25 0.4658 0.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.38251 NA NA 0.462328 0.324716 NA 0.377 NA 2.623572 1398 4 8608634 8608634 C T intronic CPZ NA NA NA intronic ENSG00000109625,ENSG00000155269 NA NA NA NA NA 4p16.1 NA NA NA NA rs2302580 0.4 0.4 0.378 0.372404 0.4622 0.4196 0.5793 0.0953 0.4591 0.46 0.46 0.54 0.12 0.4837 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.010447 2.010447 NA 0.430837 0.152581 NA 0.333 NA 2.623263 1398 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 1398 17 39884091 39884091 G C intronic HAP1 NA NA NA intronic ENSG00000173801,ENSG00000173805 NA NA NA Score=349;Name=lod=35 NA 17q21.2 NA NA NA NA rs4796601 0.82 0.82 0.819 0.834065 0.7992 0.9048 0.804 0.7602 0.9182 0.8 0.9 0.78 0.79 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 1.078296 NA NA 0.786512 0.760327 NA 0.891 NA 2.622888 1398 11 4562947 4562947 G T intergenic OR52K1,OR52M1 dist=51809;dist=3474 NA NA intergenic ENSG00000226616,ENSG00000197790 dist=25793;dist=3474 NA NA NA NA 11p15.4 NA NA NA NA rs2641414 0.34 0.34 0.339 0.349441 0.3698 0.2302 0.2622 0.4191 0.4192 0.35 0.26 0.34 0.44 0.341 0.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.881642 NA NA NA NA NA 0.283 NA 2.6225334 1398 X 69502054 69502054 A G UTR5 RAB41 NM_001032726:c.-14A>G NA NA UTR5 ENSG00000147127 ENST00000509895:c.-358A>G,ENST00000276066:c.-14A>G,ENST00000374473:c.-14A>G NA NA NA NA Xq13.1 NA NA NA NA rs5936549 0.81 0.81 0.7973 NA NA NA NA NA NA 0.87 0.92 0.88 0.56 0.8455 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 -0.542697 NA NA 0.865339 0.497001 NA 0.558 NA 2.6224944 1398 5 39377418 39377418 G A intronic DAB2 NA NA NA intronic ENSG00000153071 NA NA NA NA NA 5p13.1 NA NA NA NA rs2738238 0.36 0.36 0.326 0.334864 0.4682 0.3046 0.4265 0.1566 0.4049 0.47 0.32 0.44 0.17 0.4347 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100583 NA NA 0.474767 0.209941 NA 0.275 NA 2.622333 1398 4 42965159 42965159 A C intronic GRXCR1 NA NA NA intronic ENSG00000215203 NA NA NA NA NA 4p13 NA NA NA NA rs10213360 0.87 0.87 0.873 0.855032 0.7853 0.9841 0.8703 0.91 0.7086 0.78 0.99 0.83 0.91 0.8089 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 -0.103486 NA NA 0.783511 0.915787 NA 0.732 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036857.1;CLNDSDB=.;CLNDSDBID=. 2.622289 1398 9 116116626 116116626 C G intronic BSPRY NA NA NA intronic ENSG00000119411 NA NA NA NA NA 9q32 NA NA NA NA rs10981763 0.48 0.48 0.494 0.455272 0.4503 0.3988 0.2738 0.5204 0.5593 0.5 0.44 0.33 0.58 0.44 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.857619 1.857619 NA 0.487488 0.592053 NA 0.326 NA 2.622212 1398 17 38856662 38856662 T C intronic KRT24 NA NA NA intronic ENSG00000167916 NA NA NA NA NA 17q21.2 NA NA NA NA rs887376 0.47 0.47 0.39 0.478634 0.4573 0.5823 0.6427 0.2451 0.593 0.47 0.56 0.62 0.25 0.4887 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.724495 NA NA 0.432209 0.284839 NA 0.261 NA 2.621791 1398 13 52524560 52524560 C T intronic ATP7B NA NA NA intronic ENSG00000123191 NA NA NA NA NA 13q14.3 NA NA NA NA rs9526811 0.34 0.34 0.329 0.306909 0.502 0.3512 0.3631 0.0628 0.3507 0.5 0.34 0.39 0.06 0.3996 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.601025 NA NA 0.47661 0.124189 NA 0.254 NA 2.62179 1398 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 1398 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 1398 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 1398 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 1398 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 1398 9 137620474 137620474 C T intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs3124302 0.43 0.43 0.374 0.408946 0.4632 0.4762 0.6297 0.1755 0.4427 0.46 0.49 0.6 0.21 0.4617 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368986 NA NA 0.455814 0.206537 NA 0.355 NA 2.619286 1398 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 1398 6 33647651 33647651 A G intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs4713654 0.69 0.69 0.646 NA NA NA NA NA NA 0.7 0.86 0.75 0.44 0.7113 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 -0.940947 NA NA 0.669767 0.549478 NA 0.514 NA 2.618933 1398 17 64208230 64208230 G A UTR3 APOH NM_000042:c.*21C>T NA NA UTR3 ENSG00000091583 ENST00000205948:c.*21C>T,ENST00000585162:c.*21C>T NA NA NA NA 17q24.2 NA NA NA NA rs6933 0.73 0.73 0.755 0.76238 0.5278 0.9087 0.7176 0.8623 0.7495 0.52 0.92 0.64 0.89 0.6307 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 0.759253 NA NA 0.55593 0.822061 NA 0.71 NA 2.6189034 1398 22 21107153 21107153 T C intronic PI4KA NA NA NA intronic ENSG00000241973 NA NA NA NA NA 22q11.21 NA NA NA NA rs2329583 0.55 0.55 0.576 0.521366 0.4742 0.5694 0.549 0.615 0.3742 0.46 0.6 0.56 0.62 0.4573 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.951517 NA NA 0.449884 0.583522 ID=COSN166705;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.493 NA 2.618616 1398 11 30253641 30253641 T C intronic FSHB NA NA NA intronic ENSG00000131808 NA NA NA NA NA 11p14.1 NA NA NA NA rs609896 0.55 0.55 0.542 0.558706 0.4473 0.6696 0.5202 0.562 0.5818 0.46 0.69 0.52 0.57 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 -0.723848 NA NA 0.435101 0.562443 NA 0.486 NA 2.617999 1398 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 1398 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 1398 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 1398 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 1398 8 17063335 17063335 A G intronic ZDHHC2 NA NA NA intronic ENSG00000104219 NA NA NA NA NA 8p22 NA NA NA NA rs2904674 0.39 0.39 0.356 0.359425 0.66 0.2272 0.4885 0.0885 0.4611 0.66 0.19 0.53 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 -0.568556 NA NA 0.723956 0.197961 NA 0.457 NA 2.616044 1398 X 19041592 19041592 C T intronic GPR64 NA NA NA intronic ENSG00000173698 NA NA NA NA NA Xp22.13 NA NA NA NA rs5909263 0.66 0.66 0.67091 NA NA NA NA NA NA 0.7 0.68 0.6 0.63 0.6865 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 -2.315052 NA NA 0.697636 0.599686 NA 0.391 NA 2.615864 1398 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 1398 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 1399 2 216191515 216191515 C T intronic ATIC NA NA NA intronic ENSG00000138363 NA NA NA NA NA 2q35 NA NA NA NA rs6751557 0.44 0.44 0.459 0.419529 0.4871 0.2232 0.4323 0.5779 0.3292 0.49 0.28 0.46 0.53 0.4264 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.438498 1.438498 NA 0.471744 0.56355 NA 0.522 NA 2.614756 1399 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 1399 22 22330082 22330082 T C UTR5 TOP3B NM_003935:c.-1A>G NA NA UTR5 ENSG00000100038 ENST00000357179:c.-1A>G,ENST00000457179:c.-1A>G,ENST00000444502:c.-1A>G,ENST00000398793:c.-1A>G,ENST00000413067:c.-8069A>G,ENST00000424393:c.-1A>G,ENST00000437929:c.-1A>G,ENST00000430142:c.-1A>G,ENST00000456075:c.-1A>G,ENST00000449704:c.-1A>G,ENST00000442653:c.-1A>G,ENST00000437103:c.-1A>G,ENST00000434517:c.-1A>G NA NA NA NA 22q11.22 NA NA NA NA rs239927 0.61 0.61 0.623 0.66893 0.5706 0.4732 0.5548 0.9622 0.6564 0.57 0.42 0.56 0.94 0.5831 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 1.535654 1.535654 NA 0.565349 0.898547 NA 0.739 NA 2.6142844 1399 1 109742452 109742452 C T intronic KIAA1324 NA NA NA intronic ENSG00000116299 NA NA NA NA NA 1p13.3 NA NA Name=5 NA rs913178 0.77 0.77 0.745 0.757788 0.7893 0.9593 0.8055 0.4675 0.8763 0.79 0.95 0.79 0.49 0.8027 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 3.282754 3.282754 NA 0.793837 0.518384 NA 0.826 NA 2.614163 1399 7 43810695 43810695 A G intronic BLVRA NA NA NA intronic ENSG00000106605 NA NA NA NA NA 7p13 NA NA NA NA rs699511 0.65 0.65 0.651 0.67512 0.6899 0.5079 0.6787 0.7345 0.7495 0.7 0.49 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 -0.597363 NA NA 0.696103 0.690751 NA 0.761 NA 2.613997 1399 5 149580819 149580819 G A intronic SLC6A7 NA NA NA intronic ENSG00000011083 NA NA NA NA NA 5q32 NA NA NA NA rs3733680 0.36 0.36 0.342 0.339856 0.4732 0.3056 0.3156 0.2466 0.3814 0.46 0.28 0.38 0.25 0.4189 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.645307 NA NA 0.494302 0.284158 NA 0.37 NA 2.613598 1399 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 1399 7 140051848 140051848 C T intronic SLC37A3 NA NA NA intronic ENSG00000157800 NA NA NA NA NA 7q34 NA NA NA NA rs12665885 0.36 0.36 0.333 0.334065 0.4602 0.4137 0.353 0.1256 0.3906 0.47 0.4 0.38 0.14 0.4669 0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.888134 2.888134 NA 0.460116 0.186791 ID=COSN168208;OCCURENCE=1(large_intestine) 0.377 NA 2.612784 1399 16 427013 427013 G C intronic TMEM8A NA NA NA intronic ENSG00000129925 NA NA NA NA NA 16p13.3 NA NA NA NA rs763140 0.44 0.44 0.471 0.490815 0.4503 0.2986 0.4135 0.5893 0.6524 0.44 0.28 0.43 0.64 0.4834 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726373 NA NA 0.453783 0.579836 NA 0.348 NA 2.612517 1399 11 66033301 66033301 C T intronic KLC2 NA NA NA intronic ENSG00000174996 NA NA NA NA NA 11q13.2 NA NA NA NA rs474005 0.37 0.37 0.318 0.332268 0.4841 0.252 0.5086 0.205 0.3057 0.48 0.24 0.5 0.26 0.4357 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.728524 2.728524 NA 0.468102 0.250682 NA 0.239 NA 2.612098 1399 13 21358061 21358061 A G intronic XPO4 NA NA NA intronic ENSG00000132953 NA NA NA NA NA 13q12.11 NA NA NA NA rs17318617 0.31 0.31 0.302 0.251797 0.507 0.1855 0.2695 0.0953 0.2566 0.5 0.2 0.31 0.14 0.3906 0.5 NA NA 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 NA 0.491425 0.157549 NA 0.341 NA 2.610975 1399 2 99274653 99274653 T C intronic MGAT4A NA NA NA intronic ENSG00000071073 NA NA NA NA NA 2q11.2 NA NA NA NA rs2271670 0.61 0.61 0.616 0.658746 0.4453 0.6369 0.562 0.8979 0.6462 0.44 0.62 0.57 0.88 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 0.968405 NA NA 0.437105 0.835987 NA 0.536 NA 2.610595 1399 3 123018963 123018963 A G intronic ADCY5 NA NA NA intronic ENSG00000173175 NA NA NA NA NA 3q21.1 Score=795;Name=V$SRF_C NA NA NA rs4482616 0.81 0.81 0.817 0.806709 0.7893 0.875 0.7939 0.7912 0.7843 0.78 0.9 0.77 0.78 0.801 0.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.502045 NA NA 0.8 0.802769 NA 0.804 NA 2.6097 1399 X 84350010 84350010 A G intronic SATL1 NA NA NA intronic ENSG00000184788 NA NA NA NA NA Xq21.1 NA NA NA NA rs4828326 0.65 0.65 0.62719 NA NA NA NA NA NA 0.72 0.65 0.69 0.49 0.7106 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.370136 1.370136 NA 0.679899 0.512907 NA 0.478 NA 2.609501 1399 1 109813020 109813020 G A intronic CELSR2 NA NA NA intronic ENSG00000143126 NA NA NA NA NA 1p13.3 NA NA NA NA rs3895559 0.45 0.45 0.476 0.41873 0.4791 0.496 0.4813 0.3313 0.3507 0.46 0.51 0.51 0.33 0.4456 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148879 NA NA 0.46593 0.347935 NA 0.384 NA 2.60937 1399 16 1818680 1818680 G C intronic MAPK8IP3 NA NA NA intronic ENSG00000138834 NA NA NA NA NA 16p13.3 NA Name=Pol2-4H8 NA NA rs2072989 0.75 0.75 0.743 0.755791 0.7932 0.6091 0.8718 0.8343 0.68 0.79 0.59 0.85 0.79 0.7872 0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.533144 NA NA 0.810251 0.825935 NA 0.783 NA 2.609349 1399 8 13357587 13357587 G A UTR5 DLC1 NM_182643:c.-7C>T,NM_024767:c.-7C>T NA NA UTR5 ENSG00000164741 ENST00000276297:c.-7C>T,ENST00000316609:c.-7C>T,ENST00000511869:c.-7C>T NA NA NA NA 8p22 Score=823;Name=V$HTF_01 NA NA NA rs1383942 0.75 0.75 0.721 0.741613 0.9364 0.6111 0.7176 0.5673 0.9284 0.94 0.61 0.78 0.58 0.8562 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 0.837412 NA NA 0.931628 0.652519 NA 0.732 NA 2.6091054 1399 6 169637911 169637911 G A intronic THBS2 NA NA NA ncRNA_intronic ENSG00000226445 NA NA NA NA NA 6q27 NA NA NA NA rs9766678 0.71 0.71 0.696 0.688898 0.5577 0.9008 0.6801 0.7057 0.589 0.56 0.9 0.67 0.74 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 -0.709045 NA NA 0.558762 0.687188 NA 0.659 NA 2.6090713 1399 6 46630068 46630068 G A intronic SLC25A27 NA NA NA intronic ENSG00000153291 NA NA NA NA NA 6p12.3 NA NA NA NA rs9381469 0.49 0.49 0.484 0.451877 0.4473 0.5625 0.4337 0.5348 0.2434 0.44 0.55 0.46 0.52 0.457 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.307085 NA NA 0.486629 0.507941 ID=COSN167786;OCCURENCE=1(large_intestine) 0.507 NA 2.609071 1399 1 154317418 154317418 T C intronic ATP8B2 NA NA NA intronic ENSG00000143515 NA NA NA NA NA 1q21.3 NA NA NA NA rs1194586 0.44 0.44 0.388 0.420527 0.4523 0.624 0.4928 0.1203 0.5327 0.46 0.62 0.52 0.13 0.4668 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.510279 1.510279 NA 0.47186 0.17862 NA 0.457 NA 2.60904 1399 20 60864390 60864390 C T intronic OSBPL2 NA NA NA intronic ENSG00000130703 NA NA NA NA NA 20q13.33 NA NA NA NA rs3746657 0.45 0.45 0.429 0.42472 0.4583 0.5417 0.5173 0.2163 0.4857 0.45 0.55 0.53 0.25 0.4684 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123648 NA NA 0.464302 0.282016 NA 0.413 NA 2.608998 1399 10 33495306 33495306 A G intronic NRP1 NA NA NA intronic ENSG00000099250 NA NA NA NA NA 10p11.22 NA NA NA NA rs2474715 0.53 0.53 0.482 0.516973 0.4414 0.7391 0.5591 0.3775 0.5245 0.42 0.79 0.51 0.4 0.484 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 -1.046016 NA NA 0.466097 0.405822 NA 0.138 NA 2.608503 1399 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 1399 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 1399 5 149582103 149582103 C T intronic SLC6A7 NA NA NA intronic ENSG00000011083 NA NA NA NA NA 5q32 NA NA NA NA rs2240788 0.36 0.36 0.341 0.35004 0.4751 0.3175 0.3199 0.2587 0.3998 0.47 0.3 0.38 0.27 0.4209 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.533344 NA NA 0.497209 0.296187 NA 0.384 NA 2.606791 1399 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 1399 7 150972189 150972189 G A intronic SMARCD3 NA NA NA intronic ENSG00000082014 NA NA NA NA NA 7q36.1 NA NA NA NA rs2072298 0.33 0.33 0.307 0.328674 0.507 0.1339 0.3746 0.2648 0.3998 0.5 0.1 0.39 0.28 0.4168 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.937726 NA NA 0.47 0.274875 NA 0.341 NA 2.6062 1399 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 1399 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 1400 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=Triglycerides,Lipid metabolism phenotypes 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 1400 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 1400 15 40259504 40259504 G A intronic EIF2AK4 NA NA NA intronic ENSG00000128829 NA NA NA NA NA 15q15.1 NA NA NA NA rs522933 0.46 0.46 0.447 0.430312 0.4841 0.5486 0.3343 0.4289 0.3231 0.5 0.53 0.33 0.43 0.4347 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.998007 NA NA 0.477052 0.430842 NA 0.399 NA 2.604148 1400 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 1400 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 1400 17 47120776 47120776 T C intronic IGF2BP1 NA NA NA intronic ENSG00000159217 NA NA NA NA NA 17q21.32 NA NA NA NA rs2289636 0.48 0.48 0.491 0.513179 0.4483 0.2272 0.4683 0.8593 0.4387 0.45 0.22 0.5 0.81 0.4751 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 0.573485 NA NA 0.473837 0.803223 NA 0.58 NA 2.602763 1400 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 1400 7 73254910 73254910 T A intronic WBSCR27 NA NA NA intronic ENSG00000165171 NA NA NA NA NA 7q11.23 NA NA NA NA rs13242043 0.58 0.58 0.539 NA NA NA NA NA NA 0.73 0.57 0.59 0.35 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 1.471775 1.471775 NA 0.738072 0.429126 NA 0.391 NA 2.601628 1400 4 79420870 79420870 C G intronic FRAS1 NA NA NA intronic ENSG00000138759 NA NA NA NA NA 4q21.21 NA NA NA NA rs7695038 0.56 0.56 0.594 0.591653 0.4732 0.6786 0.4352 0.6664 0.6339 0.45 0.69 0.43 0.66 0.5076 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 -0.274937 NA NA 0.417939 0.617027 NA 0.333 NA 2.601261 1400 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 1400 9 136135238 136135238 T C exonic ABO NA unknown UNKNOWN ncRNA_exonic ENSG00000175164 NA NA NA NA NA 9q34.2 NA NA NA NA rs549446 0.58 0.58 0.689 0.707268 0.7783 0.7103 0.5692 0.674 0.774 0.63 0.62 0.56 0.48 0.7316 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.68785 NA 0.49 0.722997 0.678521 NA NA NA 2.6004363 1400 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 1400 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 1400 6 29797553 29797553 G C intronic HLA-G NA NA NA intronic ENSG00000204632 NA NA NA NA NA 6p22.1 NA NA NA NA rs1632937 0.5 0.5 0.485 0.544129 0.4324 0.6022 0.4654 0.5083 0.7035 0.42 0.64 0.46 0.5 0.4967 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66699 NA NA 0.471977 0.51498 NA 0.572 NA 2.598923 1400 X 84358864 84358864 C T intronic SATL1 NA NA NA intronic ENSG00000184788 NA NA NA NA NA Xq21.1 NA NA NA NA rs5922146 0.76 0.76 0.74245 NA NA NA NA NA NA 0.73 0.67 0.75 0.91 0.7196 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 -0.084622 NA NA 0.681629 0.867797 NA 0.594 NA 2.598771 1400 15 42114414 42114414 C T intronic MAPKBP1 NA NA NA intronic ENSG00000137802 NA NA NA Score=622;Name=lod=449 NA 15q15.1 NA NA NA NA rs2303517 0.6 0.6 0.576 0.6252 0.834 0.2956 0.7666 0.4947 0.8262 0.83 0.28 0.76 0.52 0.7465 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 2.865362 2.865362 NA 0.820814 0.556741 NA 0.594 NA 2.598686 1400 1 160793962 160793962 G C intronic LY9 NA NA NA intronic ENSG00000122224 NA NA NA NA NA 1q23.3 NA NA NA NA rs506081 0.61 0.61 0.609 0.635982 0.4493 0.7034 0.6643 0.7027 0.6483 0.45 0.71 0.64 0.73 0.531 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 1.261084 1.261084 NA 0.421395 0.655924 NA 0.659 NA 2.598305 1400 9 139879113 139879113 G A intronic LCNL1 NA NA NA intronic ENSG00000107317,ENSG00000214402 NA NA NA NA NA 9q34.3 NA NA NA NA rs2049041 0.68 0.68 0.686 0.693291 0.6928 0.8284 0.5504 0.6059 0.774 0.69 0.83 0.58 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 -0.286723 NA NA 0.709507 0.599425 NA 0.717 NA 2.597693 1400 9 2717698 2717698 C G UTR5 KCNV2 NM_133497:c.-42C>G NA NA UTR5 ENSG00000168263 ENST00000382082:c.-42C>G NA NA NA NA 9p24.2 NA NA NA NA rs7029012 0.67 0.67 0.647 0.671925 0.5656 0.7907 0.7378 0.671 0.6135 0.56 0.8 0.71 0.67 0.6126 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 -3.133942 NA NA 0.557791 0.652065 NA 0.783 NA 2.5973424 1400 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 1400 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 1400 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 1400 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 1400 3 49898000 49898000 A G intronic CAMKV NA NA NA intronic ENSG00000164076 NA NA NA NA NA 3p21.31 NA NA NA NA rs2777888 0.43 0.43 0.426 0.403155 0.4911 0.1448 0.3703 0.6914 0.2127 0.49 0.18 0.38 0.65 0.4166 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.075308 NA NA 0.49558 0.634877 NA 0.355 NA 2.59672 1400 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 1400 16 68711999 68711999 A G intronic CDH3 NA NA NA intronic ENSG00000062038 NA NA NA NA NA 16q22.1 NA NA NA NA rs1952048 0.47 0.47 0.439 0.454473 0.4672 0.6121 0.4568 0.3086 0.4744 0.47 0.61 0.46 0.3 0.456 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.248378 NA NA 0.480233 0.345541 NA 0.529 NA 2.596567 1400 18 61067959 61067959 T C intronic VPS4B NA NA NA intronic ENSG00000119541 NA NA NA NA NA 18q21.33 NA NA NA NA rs952245 0.52 0.52 0.496 0.533347 0.4364 0.8413 0.5548 0.2141 0.7321 0.42 0.87 0.54 0.24 0.515 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 -0.044753 NA NA 0.452558 0.265441 NA 0.5 NA 2.596042 1400 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 1400 3 113207758 113207758 G A intronic SPICE1 NA NA NA intronic ENSG00000163611 NA NA NA NA NA 3q13.2 NA NA NA NA rs7625841 0.57 0.57 0.594 0.583267 0.4592 0.7093 0.4308 0.7496 0.4642 0.45 0.69 0.42 0.72 0.4979 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.120588 NA NA 0.44743 0.716523 NA 0.594 NA 2.59547 1400 3 41937000 41937000 C T intronic ULK4 NA NA NA intronic ENSG00000168038 NA NA NA Score=535;Name=lod=199 NA 3p22.1 NA NA NA NA rs1717003 0.69 0.69 0.644 0.688099 0.8101 0.8532 0.8184 0.3026 0.8211 0.8 0.85 0.81 0.27 0.7785 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 2.163054 2.163054 NA 0.816062 0.358731 NA 0.638 NA 2.595338 1401 19 1044753 1044753 T C intronic ABCA7 NA NA NA intronic ENSG00000064687 NA NA NA NA NA 19p13.3 NA NA NA NA rs3764648 0.69 0.69 0.642 NA NA NA NA NA NA 0.67 0.7 0.75 0.66 0.7166 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 0.382849 NA NA 0.688433 0.718664 NA 0.652 NA 2.594967 1401 1 165376043 165376043 T C intronic RXRG NA NA NA intronic ENSG00000143171 NA NA NA NA NA 1q23.3 Score=894;Name=V$AREB6_01 NA NA NA rs283696 0.86 0.86 0.854 0.872005 0.7962 0.9276 0.83 0.8805 0.911 0.81 0.92 0.82 0.9 0.829 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 1.199368 NA NA 0.780349 0.877894 NA 0.848 NA 2.594451 1401 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 1401 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 1401 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 1401 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 1401 12 101701930 101701930 T C intronic UTP20 NA NA NA intronic ENSG00000120800 NA NA NA NA NA 12q23.2 NA NA NA NA rs7975348 0.69 0.69 0.699 0.715455 0.4235 0.9474 0.6412 0.8729 0.6166 0.42 0.95 0.63 0.85 0.5502 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 -0.154433 NA NA 0.43314 0.809805 NA 0.623 NA 2.59316 1401 6 29794860 29794860 C T intronic HLA-G NA NA NA intronic ENSG00000204632 NA NA NA NA NA 6p22.1 NA NA NA NA rs1632946 0.5 0.5 0.501 0.543131 0.4324 0.6012 0.4654 0.5083 0.6994 0.42 0.64 0.46 0.5 0.5171 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.749475 NA NA 0.457538 0.518836 NA 0.551 NA 2.592962 1401 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 1401 12 120220282 120220282 A G intronic CIT NA NA NA intronic ENSG00000122966 NA NA NA NA NA 12q24.23 NA NA NA NA rs440299 0.44 0.44 0.412 0.438898 0.4662 0.4335 0.585 0.3366 0.4509 0.47 0.4 0.59 0.34 0.4704 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.823878 NA NA 0.470581 0.355878 NA 0.384 NA 2.592819 1401 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 1401 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 1401 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 1401 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 1401 21 45215046 45215046 T C intronic RRP1 NA NA NA intronic ENSG00000160214 NA NA NA NA NA 21q22.3 NA NA NA NA rs2838371 0.63 0.63 0.631 0.686502 0.4085 0.7917 0.6902 0.7685 0.7505 0.41 0.8 0.64 0.75 0.559 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 0.30804 NA NA 0.441571 0.760576 ID=COSN166672;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.717 NA 2.590929 1401 9 136135237 136135237 A G exonic ABO NA unknown UNKNOWN ncRNA_exonic ENSG00000175164 NA NA NA NA NA 9q34.2 NA NA NA NA rs549443 0.6 0.6 0.715 0.732029 0.7783 0.7103 0.5749 0.764 0.7751 0.63 0.61 0.57 0.58 0.7387 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 -0.664593 NA NA 0.725479 0.758125 NA 0.022 NA 2.5908543 1401 10 18266783 18266783 G T intronic SLC39A12 NA NA NA intronic ENSG00000148482 NA NA NA NA NA 10p12.33 NA NA NA NA rs1926740 0.44 0.44 0.436 0.439696 0.4702 0.4712 0.5288 0.3026 0.498 0.47 0.5 0.52 0.28 0.4697 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.4726 2.4726 NA 0.469404 0.339691 NA 0.37 NA 2.590696 1401 1 17395521 17395521 G A UTR3 PADI2 NM_007365:c.*18C>T NA NA UTR3 ENSG00000117115 ENST00000375486:c.*18C>T,ENST00000444885:c.*18C>T NA NA NA NA 1p36.13 NA NA NA NA rs2076598 0.47 0.47 0.468 0.441494 0.5905 0.3938 0.536 0.2973 0.4652 0.6 0.43 0.53 0.28 0.5534 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678738 NA NA 0.598837 0.384476 NA 0.522 NA 2.5905964 1401 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 1401 9 139301583 139301583 T C intronic SDCCAG3 NA NA NA intronic ENSG00000165689 NA NA NA NA NA 9q34.3 NA NA NA NA rs3087886 0.41 0.41 0.369 0.416933 0.4563 0.3234 0.6297 0.3313 0.4376 0.47 0.31 0.54 0.34 0.4651 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153961 NA NA 0.488688 0.33591 NA 0.319 NA 2.589912 1401 16 75146711 75146711 C G intronic LDHD NA NA NA intronic ENSG00000166816 NA NA NA NA NA 16q23.1 NA NA NA NA rs34195333 0.29 0.29 0.231 0.245607 0.502 0.1131 0.4049 0.0651 0.2495 0.5 0.11 0.43 0.07 0.4005 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160871 NA NA 0.507674 0.143312 NA 0.312 NA 2.589826 1401 22 36657628 36657628 T G intronic APOL1 NA NA NA intronic ENSG00000100342 NA NA NA NA NA 22q12.3 NA NA Name=2 NA rs136163 0.84 0.84 0.833 0.863818 0.7803 0.7966 0.8905 0.9826 0.8395 0.78 0.81 0.86 0.97 0.8342 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 -0.340519 NA NA 0.795698 0.950295 NA 0.906 NA 2.589802 1401 8 22081708 22081708 G A intronic PHYHIP NA NA NA intronic ENSG00000168490 NA NA NA NA NA 8p21.3 NA NA Name=61 NA rs4075536 0.67 0.67 0.652 0.661741 0.8171 0.8304 0.7406 0.177 0.9274 0.81 0.82 0.76 0.22 0.7827 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 0.278679 NA NA 0.810733 0.311876 NA 0.587 NA 2.589467 1401 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 1401 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 1401 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 1401 2 11300732 11300732 C T intronic PQLC3 NA NA NA intronic ENSG00000162976 NA NA NA NA NA 2p25.1 NA NA NA NA rs2271622 0.39 0.39 0.348 0.382188 0.4702 0.4683 0.4481 0.1324 0.4939 0.46 0.45 0.46 0.16 0.4522 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415675 NA NA 0.488953 0.20177 NA 0.435 NA 2.588647 1401 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 1401 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 1401 12 126135195 126135195 A G intronic TMEM132B NA NA NA intronic ENSG00000139364 NA NA NA NA NA 12q24.32 NA NA NA NA rs3803152 0.5 0.5 0.469 0.55611 0.4463 0.3681 0.5937 0.7973 0.5102 0.45 0.31 0.56 0.74 0.5042 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 -0.047659 NA NA 0.461892 0.745855 NA 0.536 NA 2.587608 1401 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 1401 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 1401 8 17137687 17137687 G A intronic VPS37A NA NA NA intronic ENSG00000155975 NA NA NA NA NA 8p22 NA NA NA NA rs3213601 0.3 0.3 0.273 0.268171 0.4702 0.2371 0.3847 0.025 0.3384 0.48 0.19 0.44 0.04 0.4192 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.669997 NA NA 0.523621 0.112347 NA 0.377 NA 2.586979 1401 15 50821945 50821945 G A intronic USP50 NA NA NA intronic ENSG00000170236 NA NA NA NA NA 15q21.2 NA NA NA NA rs3098200 0.49 0.49 0.47 0.49361 0.4751 0.504 0.5476 0.5393 0.4018 0.46 0.48 0.52 0.5 0.4749 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.455294 NA NA 0.463077 0.513289 NA 0.522 NA 2.586923 1401 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 1401 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 1401 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 1401 5 38527228 38527228 T G intronic LIFR NA NA NA intronic ENSG00000113594 NA NA NA NA NA 5p13.1 NA NA NA NA rs2289779 0.4 0.4 NA 0.384185 0.4911 0.5635 0.2882 0.1649 0.454 0.46 0.56 0.31 0.16 0.472 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.765642 NA NA 0.451887 0.208884 NA 0.42 NA 2.585013 1402 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 1402 X 2951434 2951434 C G downstream ARSH NA NA NA UTR3 ENSG00000205667 ENST00000381130:c.*8C>G NA NA NA NA Xp22.33 NA NA NA NA rs5939155 0.75 0.75 0.75914 NA NA NA NA NA NA 0.68 0.97 0.73 0.62 0.743 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 -0.02974 NA NA 0.673008 0.646154 NA 0.623 NA 2.583992 1402 8 98827636 98827636 C A intronic LAPTM4B NA NA NA intronic ENSG00000104341 NA NA NA NA NA 8q22.1 NA NA NA NA rs7818662 0.46 0.46 0.445 0.440296 0.4612 0.5526 0.4366 0.3646 0.408 0.46 0.55 0.45 0.37 0.4814 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.409796 NA NA 0.473721 0.38039 NA 0.493 NA 2.583679 1402 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 1402 6 51586771 51586771 G A UTR3 PKHD1 NM_170724:c.*13C>T NA NA UTR3 ENSG00000170927 ENST00000340994:c.*13C>T NA NA NA NA 6p12.3 NA NA NA NA rs9349593 0.71 0.71 0.741 0.765974 0.5656 0.9087 0.7478 0.7882 0.8078 0.56 0.92 0.7 0.73 0.6506 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 0.411633 NA NA 0.533837 0.773037 NA 0.536 NA 2.5832964 1402 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 1402 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 1402 2 46603671 46603671 C G intronic EPAS1 NA NA NA intronic ENSG00000116016 NA NA NA NA NA 2p21 NA NA NA NA rs7557402 0.33 0.33 0.333 0.3125 0.504 0.2123 0.2435 0.2337 0.3742 0.51 0.19 0.27 0.25 0.4104 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71017 NA NA 0.502791 0.285293 NA 0.406 NA 2.582809 1402 X 107418281 107418281 C T intronic COL4A6 NA NA NA intronic ENSG00000197565 NA NA NA NA NA Xq22.3 NA NA NA NA rs2295914 0.51 0.51 0.50556 NA NA NA NA NA NA 0.75 0.25 0.45 0.5 0.6459 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 1.315684 1.315684 NA 0.771849 0.527249 NA 0.391 NA 2.582251 1402 6 32411726 32411726 G A intronic HLA-DRA NA NA NA intronic ENSG00000204287 NA NA NA NA NA 6p21.32 NA Name=Pol2-4H8 NA NA rs3129888 0.84 0.84 0.834 0.869209 0.7913 0.9554 0.8458 0.8026 0.9673 0.77 0.97 0.82 0.81 0.8258 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 0.698298 NA NA 0.800664 0.788933 NA 0.826 NA 2.582236 1402 10 54528298 54528298 G C intronic MBL2 NA NA NA intronic ENSG00000165471 NA NA NA NA NA 10q21.1 NA Name=CEBPB,FOXA2_(SC-6554),HNF4G_(SC-6558),p300,FOXA1_(SC-101058) NA NA rs930508 0.77 0.77 0.757 0.729633 0.8012 0.7242 0.8501 0.621 0.7229 0.81 0.75 0.84 0.67 0.798 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 0.510829 NA NA 0.818721 0.650545 NA 0.623 NA 2.582079 1402 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 1402 16 87960560 87960560 A T intronic CA5A NA NA NA intronic ENSG00000174990 NA NA NA NA NA 16q24.2 NA NA NA NA rs12922226 0.31 0.31 0.303 0.277955 0.498 0.0625 0.2983 0.3086 0.2178 0.5 0.03 0.32 0.33 0.4299 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.655911 NA NA 0.490553 0.333638 NA 0.449 NA 2.581547 1402 22 36657596 36657596 A G intronic APOL1 NA NA NA intronic ENSG00000100342 NA NA NA NA NA 22q12.3 NA NA Name=2 NA rs713929 0.84 0.84 0.835 0.864018 0.7813 0.7976 0.8919 0.9834 0.8364 0.78 0.81 0.86 0.97 0.8371 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 -0.67022 NA NA 0.800233 0.95143 NA 0.935 NA 2.581367 1402 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 1402 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 1402 19 47774447 47774447 G A intronic CCDC9 NA NA NA intronic ENSG00000105321 NA NA NA NA NA 19q13.32 NA NA NA NA rs66726054 0.51 0.51 0.476 0.51238 0.4304 0.6825 0.585 0.3404 0.6022 0.45 0.65 0.56 0.39 0.5521 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.080642 NA NA 0.436947 0.317439 NA 0.457 NA 2.580553 1402 4 119064668 119064668 G A intronic NDST3 NA NA NA intronic ENSG00000164100 NA NA NA NA NA 4q26 NA NA NA NA rs3749506 0.66 0.66 0.718 0.619409 0.6799 0.621 0.7147 0.413 0.7669 0.75 0.69 0.8 0.38 0.7401 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 -1.215302 NA NA NA NA ID=COSN167300;OCCURENCE=1(large_intestine) 0.703 NA 2.58 1402 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 1402 7 120765954 120765954 T C intronic CPED1 NA NA NA intronic ENSG00000106034 NA NA NA NA NA 7q31.31 NA NA NA NA rs798949 0.54 0.54 0.492 0.505591 0.4831 0.8552 0.6239 0.2466 0.4346 0.48 0.85 0.59 0.23 0.4927 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 0.443562 NA NA 0.444535 0.299138 NA 0.449 NA 2.579665 1402 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 1402 10 105108455 105108455 T C intronic PCGF6 NA NA NA intronic ENSG00000156374 NA NA NA NA NA 10q24.33 NA NA NA NA rs4917387 0.41 0.41 0.395 0.432109 0.4851 0.4365 0.4179 0.2057 0.6892 0.5 0.44 0.39 0.24 0.4861 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506643 NA NA 0.449336 0.260573 NA 0.312 NA 2.579464 1402 2 11312181 11312181 G A intronic PQLC3 NA NA NA intronic ENSG00000162976 NA NA NA NA NA 2p25.1 NA NA NA NA rs12987956 0.35 0.35 0.31 0.334665 0.4801 0.3829 0.4424 0.0227 0.4806 0.46 0.4 0.47 0.04 0.4422 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.726889 NA NA 0.498256 0.11212 NA 0.384 NA 2.579444 1402 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 1402 1 183534935 183534935 C T intronic NCF2 NA NA NA intronic ENSG00000116701 NA NA NA NA NA 1q25.3 NA NA NA NA rs2296164 0.5 0.5 0.499 0.477636 0.4702 0.6081 0.5965 0.3245 0.4734 0.47 0.64 0.54 0.36 0.4832 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.099753 NA NA 0.467558 0.354063 NA 0.406 NA 2.579042 1402 4 48851937 48851937 C T intronic OCIAD1 NA NA NA intronic ENSG00000109180 NA NA NA NA NA 4p11 NA NA NA NA rs3761729 0.46 0.46 0.482 0.520966 0.4473 0.5149 0.3401 0.618 0.6002 0.45 0.48 0.28 0.58 0.4834 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.716803 1.716803 NA 0.490581 0.597594 ID=COSN167198;OCCURENCE=3(large_intestine),2(endometrium) 0.558 NA 2.578719 1402 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 1402 3 128614133 128614133 C T intronic ACAD9 NA NA NA intronic ENSG00000177646 NA NA NA NA NA 3q21.3 NA NA NA NA rs1683791 0.64 0.64 0.639 0.658147 0.4404 0.6806 0.5634 0.9539 0.5266 0.44 0.66 0.61 0.93 0.5437 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 -1.0047 NA NA 0.43814 0.85951 NA 0.652 NA 2.57776 1402 19 3014647 3014647 C A intronic TLE2 NA NA NA intronic ENSG00000065717 NA NA NA NA NA 19p13.3 NA NA NA NA rs1844880 0.42 0.42 0.4 0.376997 0.494 0.6369 0.5014 0.0393 0.3569 0.49 0.61 0.5 0.05 0.4629 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044815 NA NA 0.466004 0.119177 NA 0.319 NA 2.577096 1402 1 45981512 45981512 T C intronic PRDX1 NA NA NA intronic ENSG00000117450 NA NA NA NA NA 1p34.1 NA NA NA NA rs2356559 0.8 0.8 NA 0.81849 0.6958 0.9216 0.8372 0.8563 0.774 0.69 0.9 0.81 0.86 0.7272 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 0.667777 NA NA NA NA NA 0.754 NA 2.577 1402 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 1402 1 92765848 92765848 A T intronic RPAP2 NA NA NA intronic ENSG00000122484 NA NA NA NA NA 1p22.1 NA NA NA NA rs1542685 0.6 0.6 0.602 0.619609 0.4553 0.9732 0.4885 0.472 0.7168 0.46 0.97 0.48 0.47 0.5231 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 0.631077 NA NA 0.444781 0.453278 NA 0.478 NA 2.576819 1402 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 1402 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 1402 17 80121275 80121275 A G intronic CCDC57 NA NA NA intronic ENSG00000176155 NA NA NA NA NA 17q25.3 NA NA NA NA rs34448080 0.61 0.61 0.589 0.585264 0.4831 0.8631 0.6268 0.4614 0.5419 0.47 0.86 0.59 0.52 0.5138 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 -0.831292 NA NA 0.427901 0.424089 NA 0.551 NA 2.575199 1403 4 79420864 79420864 T C intronic FRAS1 NA NA NA intronic ENSG00000138759 NA NA NA NA NA 4q21.21 NA NA NA NA rs7677541 0.58 0.58 0.602 0.59385 0.4732 0.6806 0.4366 0.6664 0.6421 0.48 0.71 0.44 0.69 0.5086 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.549158 NA NA 0.444148 0.654863 NA 0.58 NA 2.574052 1403 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 1403 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 1403 9 27203134 27203134 A G intronic TEK NA NA NA intronic ENSG00000120156 NA NA NA NA NA 9p21.2 NA NA NA NA rs638203 0.44 0.44 0.42 0.414936 0.4811 0.3978 0.5101 0.3374 0.4018 0.49 0.42 0.52 0.33 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 0.810087 NA NA 0.480581 0.381752 NA 0.471 NA 2.572619 1403 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 1403 10 85994142 85994142 A G intronic LRIT1 NA NA NA intronic ENSG00000148602 NA NA NA NA NA 10q23.1 NA NA NA NA rs3829858 0.56 0.56 0.577 0.58107 0.4732 0.4058 0.5461 0.9236 0.4346 0.48 0.37 0.51 0.92 0.5036 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 1.317062 1.317062 NA 0.45093 0.839764 NA 0.63 NA 2.57227 1403 2 113789316 113789316 C T UTR5 IL36B NM_014438:c.-30G>A,NM_173178:c.-30G>A NA NA UTR5 ENSG00000136696 ENST00000259213:c.-30G>A,ENST00000327407:c.-30G>A NA NA NA NA 2q13 NA NA NA NA rs2305150 0.63 0.63 0.619 0.639776 0.5835 0.7242 0.6009 0.5787 0.7209 0.59 0.71 0.6 0.61 0.6155 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000725 NA NA 0.562326 0.561961 NA 0.616 NA 2.5720074 1403 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 1403 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 1403 12 131439239 131439239 T C intronic GPR133 NA NA NA intronic ENSG00000111452 NA NA NA NA NA 12q24.33 NA NA NA NA rs10848261 0.49 0.49 0.446 0.490615 0.4692 0.6349 0.5231 0.3858 0.4826 0.49 0.59 0.5 0.37 0.4886 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.370867 NA NA 0.471163 0.428734 NA 0.449 NA 2.571037 1403 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 1403 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 1403 18 662103 662103 G A intronic TYMS NA NA NA intronic ENSG00000176890 NA NA NA NA NA 18p11.32 NA NA NA NA rs1001761 0.6 0.6 0.624 0.614217 0.4632 0.6905 0.4236 0.8041 0.5695 0.46 0.68 0.44 0.82 0.5137 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 0.367459 NA NA 0.452326 0.775306 NA 0.674 NA 2.570774 1403 17 4642069 4642069 A G intronic CXCL16 NA NA NA intronic ENSG00000161921 NA NA NA NA NA 17p13.2 NA Name=STAT3,Pol2 NA NA rs2250333 0.72 0.72 0.706 0.674521 0.8469 0.7034 0.7205 0.4992 0.6718 0.84 0.7 0.71 0.54 0.7565 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 0.862003 NA NA 0.82593 0.564685 NA 0.71 NA 2.57067 1403 16 19460842 19460842 A G intronic TMC5 NA NA NA intronic ENSG00000103534 NA NA NA NA NA 16p12.3 NA NA Name=3 NA rs6497373 0.83 0.83 0.823 0.861821 0.7922 0.8611 0.8026 0.9138 0.9059 0.81 0.83 0.79 0.91 0.8355 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 0.576243 NA NA 0.801788 0.913 NA 0.79 NA 2.570512 1403 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 1403 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 1403 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 1403 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 1403 18 74778515 74778515 G T intronic MBP NA NA NA intronic ENSG00000197971 NA NA NA NA NA 18q23 NA NA NA NA rs7241461 0.48 0.48 0.461 0.49381 0.4672 0.6052 0.4308 0.4092 0.5654 0.46 0.61 0.41 0.42 0.4868 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.575187 NA NA 0.477901 0.402397 NA 0.486 NA 2.568099 1403 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 1403 17 39884419 39884419 C T intronic HAP1 NA NA NA intronic ENSG00000173801,ENSG00000173805 NA NA NA NA NA 17q21.2 NA NA Name=6 NA rs4796692 0.8 0.8 0.794 0.809505 0.825 0.9028 0.8156 0.6415 0.9202 0.82 0.9 0.81 0.65 0.798 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 0.786773 NA NA 0.809884 0.645095 NA 0.819 NA 2.567116 1403 21 47545155 47545155 A G intronic COL6A2 NA NA NA intronic ENSG00000142173 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839113 0.85 0.85 0.856 0.795128 0.8171 0.876 0.9063 0.7814 0.6288 0.82 0.9 0.89 0.82 0.7985 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 0.804171 NA NA 0.817326 0.775987 NA 0.804 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079861.1;CLNDSDB=.;CLNDSDBID=. 2.567074 1403 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 1403 22 37328966 37328966 G C intronic CSF2RB NA NA NA intronic ENSG00000100368 NA NA NA NA NA 22q12.3 NA NA NA NA rs1534879 0.53 0.53 0.491 0.460863 0.4722 0.7946 0.5879 0.1755 0.4008 0.51 0.82 0.56 0.2 0.4996 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 -0.453553 NA NA 0.461512 0.244666 NA 0.406 NA 2.566688 1403 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 1403 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 1403 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 1403 12 109691991 109691991 A G intronic ACACB NA NA NA intronic ENSG00000076555 NA NA NA NA NA 12q24.11 NA Name=CTCF NA NA rs2075259 0.74 0.74 0.718 0.714657 0.833 0.6696 0.8329 0.6505 0.6421 0.84 0.64 0.82 0.63 0.7837 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 2.51464 2.51464 NA 0.818023 0.669088 NA 0.826 NA 2.565277 1403 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 1404 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 1404 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 1404 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 1404 15 25981190 25981190 A G intronic ATP10A NA NA NA intronic ENSG00000206190 NA NA NA NA NA 15q12 NA Name=CTCF,FOXA1_(C-20) NA NA rs7173593 0.65 0.65 0.645 0.63778 0.8459 0.6062 0.6614 0.4463 0.6984 0.85 0.6 0.66 0.41 0.7525 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 0.669563 NA NA 0.839651 0.507717 NA 0.63 NA 2.561949 1404 X 88009322 88009322 A G UTR3 CPXCR1 NM_001184771:c.*1A>G,NM_033048:c.*1A>G NA NA UTR3 ENSG00000147183 ENST00000276127:c.*1A>G,ENST00000373111:c.*1A>G NA NA NA NA Xq21.31 NA NA NA NA rs5984613 0.9 0.9 0.90779 NA NA NA NA NA NA 0.85 0.92 0.91 0.97 0.8986 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 0.094155 NA NA 0.87279 0.967889 NA 0.696 NA 2.5619434 1404 20 47260936 47260936 A G intronic PREX1 NA NA NA intronic ENSG00000124126 NA NA NA NA NA 20q13.13 NA NA NA NA rs6019344 0.57 0.57 0.567 0.613019 0.4722 0.4435 0.5447 0.8245 0.6953 0.45 0.46 0.58 0.84 0.5153 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 1.317307 1.317307 NA 0.450581 0.773718 ID=COSN166554;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.558 NA 2.561919 1404 3 14965507 14965507 A G intronic FGD5 NA NA NA ncRNA_exonic ENSG00000225733 NA NA NA NA NA 3p25.1 NA NA Name=2 NA rs4685235 0.96 0.96 0.963 0.967252 0.9205 1 0.9611 0.9985 0.9438 0.91 1 0.96 1 0.9326 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.090145 NA NA 0.918331 0.984549 NA 0.971 NA 2.5619023 1404 9 125760863 125760863 T C intronic RABGAP1 NA NA NA intronic ENSG00000011454 NA NA NA NA NA 9q33.2 NA Name=FOXA1_(SC-101058),FOXA1_(C-20),FOXA2_(SC-6554) NA NA rs587364 0.49 0.49 0.435 0.492013 0.8509 0.3105 0.5821 0.0605 0.8292 0.86 0.28 0.61 0.09 0.7241 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 0.238475 NA NA 0.863256 0.175443 ID=COSN168667;OCCURENCE=1(skin),1(large_intestine) 0.493 NA 2.561744 1404 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 1404 16 30119525 30119525 C A intronic GDPD3 NA NA NA exonic ENSG00000102886 NA nonsynonymous SNV ENSG00000102886:ENST00000566434:exon3:c.G124T:p.V42L NA NA 16p11.2 NA NA NA NA rs8061772 0.89 0.89 0.888 0.895168 0.8579 0.9812 0.8963 0.8109 0.9581 0.86 0.98 0.88 0.83 0.8828 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 -0.374281 NA NA 0.864884 0.80792 NA 0.848 NA 2.5610827 1404 X 102339606 102339606 T C intronic NXF3 NA NA NA intronic ENSG00000147206 NA NA NA NA NA Xq22.1 NA NA NA NA rs1029305 0.81 0.81 0.82432 NA NA NA NA NA NA 0.7 0.85 0.78 0.97 0.7416 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 0.141903 NA NA 0.697533 0.94133 NA 0.674 NA 2.560867 1404 22 36962353 36962353 C G intronic CACNG2 NA NA NA intronic ENSG00000166862 NA NA NA NA NA 22q12.3 NA NA NA NA rs2267338 0.54 0.54 0.565 0.549321 0.4751 0.2857 0.5692 0.8956 0.4151 0.48 0.27 0.59 0.9 0.4939 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 -0.292506 NA NA 0.470233 0.817522 NA 0.681 NA 2.560767 1404 4 8616054 8616054 C T intronic CPZ NA NA NA intronic ENSG00000109625,ENSG00000155269 NA NA NA NA NA 4p16.1 NA NA NA NA rs2302572 0.46 0.46 0.384 0.451478 0.494 0.5635 0.6037 0.1944 0.5317 0.5 0.58 0.57 0.21 0.4731 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.087589 NA NA 0.472326 0.250794 NA 0.406 NA 2.560574 1404 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 1404 1 186329869 186329869 C G ncRNA_intronic MIR548F1 NA NA NA intronic ENSG00000047410 NA NA NA NA NA 1q31.1 NA NA NA NA rs2026187 0.59 0.59 0.579 0.56869 0.5825 0.6548 0.5879 0.5507 0.4765 0.59 0.63 0.61 0.52 0.5828 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.515159 NA NA 0.608052 0.582613 NA 0.5 NA 2.5599813 1404 17 42824731 42824731 G A intronic DBF4B NA NA NA intronic ENSG00000161692 NA NA NA NA NA 17q21.31 NA NA NA NA rs9912745 0.49 0.49 0.439 0.471446 0.5119 0.7232 0.5591 0.1952 0.4816 0.51 0.72 0.53 0.18 0.4735 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.48755 2.48755 NA 0.454651 0.246028 NA 0.507 NA 2.559949 1404 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 1404 17 42854502 42854502 G A intronic ADAM11 NA NA NA intronic ENSG00000073670 NA NA NA NA NA 17q21.31 NA NA NA NA rs1558086 0.49 0.49 0.45 0.460663 0.5119 0.7242 0.5519 0.1634 0.4734 0.51 0.73 0.52 0.15 0.4739 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 -0.095796 NA NA 0.454419 0.213345 NA 0.478 NA 2.559781 1404 13 99361959 99361959 G A intronic SLC15A1 NA NA NA intronic ENSG00000088386 NA NA NA NA NA 13q32.3 NA NA NA NA rs2297319 0.29 0.29 0.251 0.250599 0.507 0.0109 0.4308 0.1536 0.2372 0.49 0.01 0.41 0.21 0.4084 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997461 NA NA 0.525 0.226282 NA 0.283 NA 2.5596 1404 11 76954898 76954898 A G intronic GDPD4 NA NA NA intronic ENSG00000178795 NA NA NA NA NA 11q13.5 NA NA NA NA rs7104577 0.44 0.44 0.394 0.408746 0.492 0.38 0.5605 0.348 0.3272 0.5 0.39 0.56 0.33 0.4687 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.211769 NA NA 0.481011 0.360682 NA 0.493 NA 2.558289 1404 4 8616070 8616070 T C intronic CPZ NA NA NA intronic ENSG00000109625,ENSG00000155269 NA NA NA NA NA 4p16.1 NA NA NA NA rs2302571 0.47 0.47 0.408 0.452676 0.495 0.5635 0.6081 0.1944 0.5337 0.5 0.58 0.57 0.21 0.4746 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.183663 NA NA 0.472907 0.251248 NA 0.413 NA 2.557493 1404 6 32797876 32797876 A G intronic TAP2 NA NA NA intronic ENSG00000204267,ENSG00000250264 NA NA NA NA NA 6p21.32 NA NA NA NA rs241436 0.44 0.44 0.412 0.434305 0.4911 0.5496 0.4597 0.2247 0.5225 0.48 0.56 0.45 0.23 0.4812 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469377 NA NA 0.470838 0.274354 NA 0.362 NA 2.556862 1404 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 1404 10 95405814 95405814 C A intronic PDE6C NA NA NA intronic ENSG00000095464 NA NA NA NA NA 10q23.33 NA NA NA NA rs1409332 0.44 0.44 0.421 0.413339 0.506 0.4177 0.4107 0.3101 0.455 0.53 0.43 0.4 0.34 0.4604 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.006492 NA NA 0.477209 0.318429 NA 0.449 NA 2.556391 1404 3 183521133 183521133 A G intronic YEATS2 NA NA NA intronic ENSG00000163872 NA NA NA NA NA 3q27.1 NA NA NA NA rs263042 0.51 0.51 0.495 0.51857 0.4702 0.6627 0.4971 0.438 0.544 0.46 0.68 0.51 0.39 0.5119 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.011027 NA NA 0.461957 0.442976 NA 0.638 NA 2.555943 1404 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 1404 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 1404 12 121222411 121222411 C G intronic SPPL3 NA NA NA intronic ENSG00000157837 NA NA NA NA NA 12q24.31 NA NA NA NA rs3213570 0.38 0.38 0.357 0.366813 0.4791 0.4306 0.5692 0.0688 0.4448 0.46 0.47 0.52 0.06 0.4863 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.567289 NA NA 0.479186 0.130731 NA 0.217 NA 2.555414 1405 17 19318031 19318031 A G intronic RNF112 NA NA NA intronic ENSG00000128482 NA NA NA NA NA 17p11.2 NA NA NA NA rs1295330 0.57 0.57 0.585 0.568291 0.7276 0.4048 0.5648 0.5257 0.6329 0.73 0.41 0.62 0.48 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 -0.046967 NA NA 0.718416 0.580925 NA 0.58 NA 2.553984 1405 12 39233771 39233771 A G intronic CPNE8 NA NA NA intronic ENSG00000139117 NA NA NA NA NA 12q12 NA NA NA NA rs3803020 0.32 0.32 0.292 0.303914 0.495 0.1855 0.5 0.0711 0.4049 0.5 0.16 0.49 0.08 0.4528 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.672803 NA NA 0.498699 0.128105 NA 0.333 NA 2.553501 1405 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 1405 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 1405 11 83962251 83962251 A G intronic DLG2 NA NA NA intronic ENSG00000150672 NA NA NA NA NA 11q14.1 NA Name=MafK_(ab50322) NA NA rs7933566 0.71 0.71 0.674 0.71246 0.826 0.746 0.7392 0.5204 0.8016 0.82 0.71 0.74 0.53 0.7886 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 1.182892 NA NA 0.833374 0.573252 NA 0.703 NA 2.552026 1405 21 47542861 47542861 A G intronic COL6A2 NA NA NA intronic ENSG00000142173 NA NA NA NA NA 21q22.3 NA NA NA NA rs915786 0.89 0.89 0.896 0.847444 0.8191 0.876 0.9265 0.9667 0.6299 0.82 0.9 0.91 0.96 0.8122 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 -0.856198 NA NA 0.817124 0.94621 NA 0.783 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079853.3;CLNDSDB=.;CLNDSDBID=. 2.551576 1405 11 89413867 89413867 G A intronic FOLH1B NA NA NA ncRNA_intronic ENSG00000134612 NA NA NA NA NA 11q14.3 NA NA NA NA rs7128813 0.69 0.69 0.693 0.710863 0.5915 0.7629 0.7666 0.851 0.5511 0.52 0.79 0.7 0.82 0.6233 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 -0.775967 NA NA 0.567072 0.817644 NA 0.63 NA 2.5514613 1405 7 64169061 64169061 G A UTR3 ZNF107 NM_001013746:c.*27G>A,NM_016220:c.*27G>A NA NA UTR3 ENSG00000196247 ENST00000344930:c.*27G>A,ENST00000423627:c.*27G>A,ENST00000395391:c.*27G>A NA NA Score=361;Name=lod=39 NA 7q11.21 NA NA NA NA rs4717206 0.92 0.92 0.915 0.92472 0.9334 0.9246 0.9049 0.9342 0.9172 0.94 0.92 0.91 0.91 0.9243 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 -0.328718 NA NA 0.924197 0.930885 NA 0.819 NA 2.5514364 1405 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 1405 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 1405 19 17100438 17100438 T A intronic CPAMD8 NA NA NA intronic ENSG00000160111 NA NA NA NA NA 19p13.11 NA NA NA NA rs4447554 0.59 0.59 0.603 0.577476 0.495 0.628 0.4611 0.7844 0.4131 0.49 0.61 0.49 0.78 0.486 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 -0.58976 NA NA 0.468833 0.745413 NA 0.478 NA 2.550167 1405 19 4174950 4174950 A G intronic SIRT6 NA NA NA UTR3 ENSG00000077463 ENST00000601571:c.*63T>C NA NA NA NA 19p13.3 NA Name=NRSF NA NA rs350845 0.82 0.82 0.825 0.85643 0.8708 0.6935 0.7983 0.9644 0.9049 0.86 0.68 0.79 0.96 0.8643 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 -0.90538 NA NA 0.88149 0.954049 NA 0.848 NA 2.5500767 1405 12 52635443 52635443 T C intronic KRT7 NA NA NA intronic ENSG00000135480 NA NA NA NA NA 12q13.13 NA Name=CTCF_(SC-5916),CTCF 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 1405 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 1405 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 1405 11 2161858 2161858 A G ncRNA_exonic IGF2-AS NA NA NA ncRNA_exonic ENSG00000099869 NA NA NA NA NA 11p15.5 NA NA NA NA rs3741212 0.69 0.69 0.685 0.681709 0.6809 0.8859 0.7104 0.3911 0.8446 0.68 0.92 0.69 0.43 0.7401 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 -0.569736 NA NA 0.696127 0.538664 NA NA NA 2.5495396 1405 11 124967678 124967678 A G intronic TMEM218 NA NA NA intronic ENSG00000150433 NA NA NA NA NA 11q24.2 NA NA NA NA rs3737350 0.57 0.57 0.592 0.556909 0.4652 0.6687 0.3804 0.6884 0.4836 0.48 0.69 0.39 0.71 0.5101 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.228677 NA NA 0.475576 0.657883 NA 0.543 NA 2.549124 1405 10 3187924 3187924 T C ncRNA_exonic PITRM1-AS1 NA NA NA ncRNA_exonic ENSG00000237399 NA NA NA NA NA 10p15.2 NA NA NA NA rs3758631 0.71 0.71 0.697 0.67512 0.7127 0.7391 0.6441 0.6059 0.6861 0.73 0.77 0.7 0.6 0.6828 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 -0.768283 NA NA 0.722346 0.661439 NA 0.768 NA 2.5488206 1405 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 1405 9 138662661 138662661 G A intronic KCNT1 NA NA NA intronic ENSG00000107147 NA NA NA NA NA 9q34.3 NA NA NA NA rs10858172 0.47 0.47 0.438 0.511981 0.4583 0.4157 0.4308 0.6528 0.5337 0.46 0.37 0.44 0.63 0.5086 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 0.042202 NA NA 0.484594 0.658514 NA 0.464 NA 2.548506 1405 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 1405 4 111781650 111781650 C T intergenic PITX2,C4orf32 dist=218371;dist=1284903 NA NA downstream ENSG00000215961 NA NA NA NA NA 4q25 NA NA NA NA rs10213399 0.9 0.9 0.881 0.875998 0.9523 0.9901 0.9452 0.6513 0.9346 0.96 0.99 0.97 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 -0.674939 NA NA NA NA NA 0.913 NA 2.5477 1405 7 99704827 99704827 A G UTR3 TAF6 NM_005641:c.*42T>C,NM_001190415:c.*42T>C,NM_139315:c.*42T>C NA NA UTR3 ENSG00000106290,ENSG00000221838 ENST00000453269:c.*42T>C,ENST00000421980:c.*1667T>C,ENST00000452041:c.*42T>C,ENST00000472509:c.*42T>C,ENST00000418432:c.*42T>C,ENST00000344095:c.*42T>C,ENST00000437822:c.*42T>C;ENST00000416938:c.*993A>G NA NA NA NA 7q22.1 NA NA NA NA rs1050542 0.61 0.61 0.588 0.60603 0.6004 0.8562 0.634 0.3328 0.7035 0.6 0.87 0.59 0.34 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 0.375349 NA NA 0.591326 0.41257 NA 0.507 NA 2.5475074 1405 10 18270422 18270422 G A intronic SLC39A12 NA NA NA intronic ENSG00000148482 NA NA NA NA NA 10p12.33 NA NA NA NA rs1926739 0.49 0.49 0.457 0.495607 0.4751 0.6171 0.5576 0.3169 0.589 0.47 0.64 0.55 0.3 0.5052 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.604872 1.604872 NA 0.473017 0.348842 NA 0.406 NA 2.546683 1405 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 1405 X 100400023 100400023 A G intronic CENPI NA NA NA intronic ENSG00000102384 NA NA NA NA NA Xq22.1 NA NA NA NA rs2295376 0.67 0.67 0.71065 NA NA NA NA NA NA 0.74 0.37 0.61 0.95 0.7047 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 0.56786 NA NA 0.749108 0.923338 NA 0.5 NA 2.546192 1405 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 1405 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 1405 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 1405 11 102647310 102647310 T G intronic MMP10 NA NA NA ncRNA_intronic ENSG00000255282 NA NA NA NA NA 11q22.2 NA NA Name=10 NA rs470154 0.93 0.93 0.94 0.926717 0.9334 0.8899 0.8761 0.9955 0.9008 0.93 0.89 0.91 0.99 0.9247 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 0.323343 NA NA 0.929984 0.984793 NA 0.964 NA 2.5452493 1405 16 10995850 10995850 G T intronic CIITA NA NA NA UTR3 ENSG00000179583 ENST00000571186:c.*158G>T NA NA NA NA 16p13.13 NA NA NA NA rs6498124 0.44 0.44 0.45 0.410144 0.5537 0.4544 0.3386 0.2337 0.5061 0.57 0.47 0.4 0.26 0.4987 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153664 NA NA 0.569186 0.293582 NA 0.449 NA 2.5450807 1406 6 32628045 32628045 C G intronic HLA-DQB1 NA NA NA ncRNA_intronic ENSG00000223534,ENSG00000241287 NA NA NA NA NA 6p21.32 NA NA NA NA rs9273472 0.68 0.68 0.414 0.747204 0.7266 0.7688 0.8199 0.649 0.8272 0.66 0.76 0.77 0.55 0.5371 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 -0.647138 NA NA 0.525132 0.454874 NA 0.203 NA 2.5445013 1406 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 1406 8 12950110 12950110 G A intronic DLC1 NA NA NA intronic ENSG00000164741 NA NA NA NA NA 8p22 NA NA NA NA rs7829535 0.36 0.36 0.341 0.336861 0.504 0.2768 0.3444 0.1823 0.4305 0.5 0.29 0.42 0.18 0.4475 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.148293 NA NA 0.50407 0.230822 NA 0.362 NA 2.54443 1406 1 167367193 167367193 C T intronic POU2F1 NA NA NA intronic ENSG00000143190 NA NA NA NA NA 1q24.2 NA NA NA NA rs7524019 0.47 0.47 0.404 0.459864 0.4861 0.6994 0.6138 0.0522 0.6278 0.5 0.72 0.58 0.06 0.5026 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.891674 1.891674 NA 0.467907 0.128234 NA 0.514 NA 2.543393 1406 5 1085604 1085604 C A intronic SLC12A7 NA NA NA intronic ENSG00000113504 NA NA NA NA NA 5p15.33 NA NA NA NA rs11133624 0.46 0.46 0.427 0.456669 0.4732 0.628 0.6081 0.1619 0.5542 0.47 0.64 0.57 0.16 0.5265 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.817506 NA NA 0.457439 0.210866 NA 0.435 NA 2.542861 1406 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 1406 16 81224234 81224234 T C intronic PKD1L2 NA NA NA intronic ENSG00000166473,ENSG00000269323 NA NA NA NA NA 16q23.2 NA Name=CTCF NA NA rs12716909 0.8 0.8 0.796 0.735224 0.828 0.9534 0.8069 0.4932 0.6912 0.84 0.96 0.82 0.55 0.7991 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 -0.557223 NA NA 0.830244 0.555014 NA 0.696 NA 2.542656 1406 6 160106088 160106088 C A intronic SOD2 NA NA NA intronic ENSG00000112096 NA NA NA NA NA 6q25.3 NA NA NA NA rs2758332 0.39 0.39 0.369 0.430511 0.4652 0.122 0.585 0.503 0.5051 0.46 0.1 0.55 0.49 0.4936 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.540449 NA NA 0.498604 0.491148 NA 0.384 NA 2.542596 1406 12 6861043 6861043 T C intronic MLF2 NA NA NA intronic ENSG00000089693 NA NA NA NA NA 12p13.31 NA NA NA NA rs2302367 0.59 0.59 0.605 0.578674 0.4871 0.5813 0.4971 0.8464 0.3661 0.49 0.58 0.47 0.86 0.488 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 1.039869 NA NA 0.482326 0.806854 NA 0.754 NA 2.542574 1406 1 53684525 53684525 C G intronic C1orf123 NA NA NA intronic ENSG00000162384 NA NA NA NA NA 1p32.3 NA NA NA NA rs436887 0.84 0.84 0.843 NA NA NA NA NA NA 0.66 1 0.75 0.97 0.7696 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.762023 NA NA 0.687907 0.918974 NA 0.855 NA 2.542493 1406 14 101431194 101431194 A G downstream SNORD114-8 NA NA NA ncRNA_intronic ENSG00000232018 NA NA NA NA NA 14q32.31 NA NA NA NA rs4547276 0.45 0.45 0.453 0.461861 0.5547 0.1151 0.5533 0.5847 0.4928 0.55 0.13 0.55 0.61 0.5038 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.110248 NA NA 0.565796 0.577055 NA 0.623 NA 2.5423706 1406 17 80545156 80545156 A G intronic FOXK2 NA NA NA exonic ENSG00000141568 NA unknown UNKNOWN NA NA 17q25.3 NA NA Name=32 NA rs6502124 0.96 0.96 0.956 0.961262 0.9901 1 0.9784 0.8737 0.998 0.99 1 0.98 0.88 0.9815 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.666098 NA NA 0.986502 0.888914 NA 0.957 NA 2.541898 1406 1 36216835 36216835 C T intronic CLSPN NA NA NA intronic ENSG00000092853 NA NA NA Score=401;Name=lod=57 NA 1p34.3 NA NA NA NA rs535638 0.51 0.51 0.491 0.520367 0.8638 0.2599 0.5605 0.2322 0.7965 0.86 0.22 0.59 0.24 0.7282 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 -0.44646 NA NA 0.866279 0.347411 NA 0.638 NA 2.541721 1406 3 196750016 196750016 A G intronic MFI2 NA NA NA intronic ENSG00000163975 NA NA NA NA NA 3q29 NA NA Name=7 NA rs2288765 0.8 0.8 0.765 0.790735 0.833 0.8056 0.7666 0.8192 0.7106 0.82 0.79 0.78 0.78 0.7947 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 0.195514 NA NA 0.831047 0.826748 NA 0.884 NA 2.541253 1406 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 1406 7 128846469 128846469 A G intronic SMO NA NA NA intronic ENSG00000128602 NA NA NA NA NA 7q32.1 NA NA Name=4 NA rs2735842 0.77 0.77 0.755 0.753195 0.8231 0.756 0.7896 0.6694 0.7658 0.81 0.77 0.78 0.7 0.7971 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 0.121441 NA NA 0.83907 0.692692 NA 0.754 NA 2.54073 1406 10 120917445 120917445 G A intronic SFXN4 NA NA NA intronic ENSG00000183605 NA NA NA NA NA 10q26.11 NA NA NA NA rs2275111 0.53 0.53 0.521 0.509984 0.4632 0.7123 0.4856 0.4546 0.4417 0.47 0.7 0.49 0.47 0.4963 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 -0.047496 NA NA 0.500698 0.446664 NA 0.5 NA 2.539802 1406 16 81145755 81145755 A T intronic PKD1L2 NA NA NA intronic ENSG00000166473 NA NA NA NA NA 16q23.2 NA NA NA NA rs11647962 0.55 0.55 0.544 0.518371 0.4781 0.6409 0.5865 0.4917 0.4213 0.48 0.69 0.58 0.49 0.4948 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 1.030215 NA NA 0.487397 0.465589 NA 0.507 NA 2.539703 1406 11 66299515 66299515 A G UTR3 BBS1 NM_024649:c.*7A>G NA NA UTR3 ENSG00000174483,ENSG00000256349 ENST00000526760:c.*1704A>G,ENST00000318312:c.*7A>G,ENST00000455748:c.*7A>G,ENST00000393994:c.*269A>G;ENST00000419755:c.*7A>G NA NA NA NA 11q13.2 NA NA NA NA rs8432 0.65 0.65 0.68 0.612819 0.6133 0.5486 0.4496 0.9054 0.3988 0.61 0.57 0.5 0.91 0.5894 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 0.757223 NA NA 0.591439 0.842896 NA 0.58 NA 2.5391944 1406 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 1406 13 100537376 100537376 G A intronic CLYBL NA NA NA intronic ENSG00000125246 NA NA NA NA NA 13q32.3 NA Name=FOXA2_(SC-6554),CEBPB,FOXA1_(C-20),FOXA1_(SC-101058) NA NA rs912285 0.86 0.86 0.849 0.822284 0.832 0.8502 0.889 0.9433 0.5726 0.82 0.82 0.87 0.94 0.8108 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 -0.992414 NA NA 0.819437 0.936644 NA 0.725 NA 2.537763 1406 16 10631945 10631945 G A intronic EMP2 NA NA NA intronic ENSG00000213853 NA NA NA NA NA 16p13.13 NA NA NA NA rs1504883 0.45 0.45 0.404 0.419728 0.504 0.5556 0.4914 0.2451 0.3783 0.52 0.55 0.43 0.25 0.4615 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.709068 NA NA 0.497674 0.277879 NA 0.384 NA 2.536826 1406 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 1406 14 101435371 101435371 A G upstream;downstream SNORD114-13;SNORD114-11,SNORD114-12 NA NA NA ncRNA_intronic ENSG00000271417 NA NA NA NA NA 14q32.31 NA NA NA NA rs12432302 0.48 0.48 0.482 0.490415 0.5547 0.1161 0.5605 0.6884 0.4928 0.55 0.13 0.56 0.71 0.5114 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.859096 NA NA 0.565545 0.674658 NA 0.63 NA 2.5350216 1407 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 1407 11 69625511 69625511 T C intronic FGF3 NA NA NA intronic ENSG00000186895 NA NA NA NA NA 11q13.3 NA NA NA NA rs7932320 0.49 0.49 0.461 0.458267 0.4901 0.623 0.3718 0.388 0.4121 0.49 0.63 0.39 0.39 0.4851 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.181571 NA NA 0.490194 0.379779 NA 0.355 NA 2.534606 1407 13 46629995 46629995 C A ncRNA_intronic CPB2-AS1 NA NA NA ncRNA_intronic ENSG00000235903 NA NA NA NA NA 13q14.13 NA NA NA NA rs1926446 0.8 0.8 0.832 0.783746 0.6899 0.8056 0.7738 0.9054 0.7004 0.71 0.84 0.77 0.91 0.7414 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 -0.252619 NA NA 0.700861 0.861779 NA 0.696 NA 2.5345056 1407 4 48533148 48533148 C A intronic FRYL NA NA NA intronic ENSG00000075539 NA NA NA NA NA 4p11 NA NA NA NA rs6855022 0.45 0.45 0.394 0.389776 0.5159 0.4464 0.5764 0.1717 0.364 0.52 0.49 0.6 0.19 0.4725 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173666 NA NA 0.477234 0.204432 NA 0.319 NA 2.534366 1407 6 29913078 29913078 A G intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2,Pol2-4H8 NA NA rs41546815 0.84 0.84 0.818 0.874601 0.8171 0.9692 0.8617 0.8064 0.9376 0.8 0.95 0.82 0.78 0.8486 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 -0.08885 NA NA 0.800116 0.747163 NA 0.819 NA 2.534184 1407 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 1407 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 1407 8 120602914 120602914 C T intronic ENPP2 NA NA NA intronic ENSG00000136960 NA NA NA NA NA 8q24.12 NA NA NA NA rs935360 0.58 0.58 0.601 0.640375 0.4751 0.5258 0.5533 0.8268 0.7382 0.48 0.54 0.49 0.83 0.5378 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 0.648761 NA NA 0.454598 0.773309 NA 0.58 NA 2.532502 1407 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 1407 2 153483257 153483257 T C intronic FMNL2 NA NA NA intronic ENSG00000157827 NA NA NA NA NA 2q23.3 NA NA NA NA rs7604573 0.59 0.59 0.576 0.547724 0.4682 0.8333 0.3833 0.5076 0.5061 0.5 0.84 0.41 0.56 0.547 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 0.041572 NA NA 0.452369 0.512128 NA 0.457 NA 2.532431 1407 9 4661853 4661853 C T intronic SPATA6L NA NA NA intronic ENSG00000106686 NA NA NA NA NA 9p24.1 NA NA NA NA rs301489 0.61 0.61 0.636 0.641773 0.4602 0.6597 0.5403 0.8835 0.5552 0.43 0.66 0.57 0.87 0.5144 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 0.197599 NA NA 0.493629 0.838428 NA 0.71 NA 2.531771 1407 2 103010912 103010912 C T intronic IL18R1 NA NA NA intronic ENSG00000115604 NA NA NA NA NA 2q12.1 NA NA NA NA rs1420096 0.46 0.46 0.485 0.431909 0.5298 0.1687 0.3401 0.7451 0.2444 0.54 0.16 0.36 0.77 0.4389 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 0.043668 NA NA 0.500233 0.731956 NA 0.565 NA 2.531067 1407 3 141625999 141625999 G C intronic ATP1B3 NA NA NA intronic ENSG00000069849 NA NA NA NA NA 3q23 NA NA NA NA rs7622417 0.56 0.56 0.573 0.573682 0.4364 0.5685 0.4697 0.8351 0.4407 0.42 0.58 0.46 0.84 0.5263 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 3.352482 3.352482 NA 0.506744 0.795052 NA 0.565 NA 2.530556 1407 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 1407 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 1407 1 100376448 100376448 G A intronic AGL NA NA NA intronic ENSG00000162688 NA NA NA NA NA 1p21.2 NA NA NA NA rs2274570 0.52 0.52 0.474 0.461262 0.501 0.5744 0.5663 0.3495 0.3804 0.51 0.59 0.56 0.4 0.4744 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.152678 NA NA 0.494186 0.383969 NA 0.486 NA 2.530414 1407 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 1407 1 112029193 112029193 A G intronic ADORA3 NA NA NA intronic ENSG00000121933 NA NA NA NA NA 1p13.2 NA NA Name=3 NA rs2252739 0.81 0.81 0.8 0.790735 0.84 0.7887 0.8631 0.7405 0.7587 0.84 0.8 0.86 0.74 0.8142 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 -0.039176 NA NA 0.816744 0.752837 NA 0.891 NA 2.529056 1407 22 43525176 43525176 C T intronic BIK NA NA NA intronic ENSG00000100290 NA NA NA NA NA 22q13.2 NA NA Name=14 NA rs909666 0.68 0.68 0.701 0.633387 0.8588 0.5655 0.6354 0.525 0.6166 0.86 0.54 0.68 0.59 0.7581 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 0.431449 NA NA 0.855508 0.59812 NA 0.667 NA 2.527592 1407 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 1407 8 62595068 62595068 C T intronic ASPH NA NA NA intronic ENSG00000198363 NA NA NA Score=309;Name=lod=24 NA 8q12.3 NA NA NA NA rs3750278 0.82 0.82 0.808 0.803514 0.825 0.756 0.8084 0.885 0.7168 0.82 0.77 0.83 0.86 0.8095 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 1.787002 1.787002 NA 0.83814 0.878575 NA 0.841 NA 2.52736 1407 20 39794489 39794489 G A intronic PLCG1 NA NA NA intronic ENSG00000124181 NA NA NA NA NA 20q12 NA NA NA NA rs6124323 0.62 0.62 0.624 0.634784 0.4583 0.8056 0.5749 0.7874 0.4765 0.46 0.81 0.49 0.75 0.5458 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 -1.02486 NA NA 0.468721 0.762823 NA 0.58 NA 2.527179 1407 17 72305534 72305534 C T intronic DNAI2 NA NA NA ncRNA_exonic ENSG00000266106 NA NA NA NA NA 17q25.1 NA NA NA NA rs2290955 0.36 0.36 0.357 0.355431 0.6352 0.25 0.3573 0.0923 0.5307 0.66 0.23 0.36 0.08 0.5274 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 0.173967 NA NA 0.643605 0.199501 NA 0.42 NA 2.5271283 1407 14 22356225 22356225 G T intergenic OR4E2,DAD1 dist=221987;dist=677582 NA NA intronic ENSG00000211789 NA NA NA NA NA 14q11.2 NA NA NA NA rs17197550 0.34 0.34 0.313 0.339257 0.3708 0.2183 0.3963 0.3109 0.4294 0.37 0.26 0.39 0.34 0.3854 0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.194005 NA NA 0.383937 0.311141 NA 0.406 NA 2.5265297 1407 20 61588745 61588745 C T intronic SLC17A9 NA NA NA intronic ENSG00000101194 NA NA NA NA NA 20q13.33 NA NA NA NA rs2427457 0.51 0.51 0.457 0.516973 0.4891 0.7401 0.5418 0.2254 0.6922 0.49 0.73 0.54 0.24 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 0.599656 NA NA 0.463749 0.26056 NA 0.457 NA 2.526151 1407 18 61325905 61325905 T G intronic SERPINB3 NA NA NA intronic ENSG00000057149 NA NA NA NA NA 18q21.33 NA NA NA NA rs7228687 0.34 0.34 0.324 0.317093 0.5099 0.255 0.4063 0.1014 0.411 0.51 0.26 0.42 0.12 0.4432 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.564238 NA NA 0.520838 0.165456 ID=COSN165672;OCCURENCE=1(breast) 0.377 NA 2.526062 1407 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 1407 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 1407 11 1250384 1250384 A G intronic MUC5B NA NA NA intronic ENSG00000117983 NA NA NA NA NA 11p15.5 NA NA NA NA rs2471912 0.51 0.51 0.467 0.497005 0.4662 0.6508 0.5692 0.4009 0.4489 0.46 0.68 0.51 0.41 0.5498 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521235 NA NA 0.458957 0.369013 NA 0.507 NA 2.525043 1408 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 1408 2 223918080 223918080 C G UTR3 KCNE4 NM_080671:c.*19C>G NA NA UTR3 ENSG00000152049 ENST00000281830:c.*19C>G,ENST00000604125:c.*19C>G NA NA NA NA 2q36.1 NA Name=CTCF NA NA rs10189762 0.95 0.95 0.938 0.945088 0.9324 0.9911 0.9582 0.9236 0.9305 0.94 0.99 0.95 0.89 0.937 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 1.175185 NA NA 0.939412 0.940441 NA 0.957 NA 2.5245214 1408 11 67351585 67351585 C G intronic GSTP1 NA NA NA intronic ENSG00000084207 NA NA NA NA NA 11q13.2 NA NA NA NA rs4147581 0.43 0.43 0.348 0.424321 0.493 0.6766 0.33 0.0734 0.635 0.49 0.67 0.36 0.11 0.4913 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 1.120987 NA NA 0.491189 0.159448 NA 0.29 NA 2.524511 1408 9 137690318 137690318 A T intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs4240707 0.56 0.56 0.579 0.562899 0.4523 0.7738 0.4683 0.5461 0.5491 0.47 0.78 0.48 0.49 0.5238 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 0.65301 NA NA 0.499884 0.561053 NA 0.522 NA 2.524016 1408 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 1408 9 136136770 136136770 A C exonic ABO NA unknown UNKNOWN ncRNA_exonic ENSG00000175164 NA NA NA NA NA 9q34.2 NA NA NA NA rs688976 0.71 0.71 0.701 0.715655 0.7942 0.7103 0.5778 0.6884 0.7751 0.77 0.72 0.62 0.66 0.7577 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 -0.625807 NA 0.43 0.757612 0.703806 NA 0.797 NA 2.5238213 1408 7 135311120 135311120 G A intronic NUP205 NA NA NA intronic ENSG00000155561 NA NA NA NA NA 7q33 NA NA NA NA rs7810260 0.41 0.41 0.416 0.414936 0.5139 0.2599 0.3646 0.4304 0.4877 0.53 0.26 0.41 0.43 0.4637 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.057872 NA NA 0.498837 0.430549 ID=COSN168204;OCCURENCE=1(large_intestine),1(endometrium) 0.435 NA 2.523563 1408 11 1907940 1907940 T C intronic LSP1 NA NA NA intronic ENSG00000130592 NA NA NA NA NA 11p15.5 NA NA NA NA rs11041676 0.56 0.56 0.55 0.552716 0.4881 0.8006 0.6585 0.3669 0.5399 0.48 0.82 0.58 0.39 0.5222 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 -0.190245 NA NA 0.466388 0.378974 NA 0.609 NA 2.523312 1408 22 37196971 37196971 C A intronic PVALB NA NA NA intronic ENSG00000100362 NA NA NA NA NA 22q12.3 NA NA NA NA rs2001063 0.5 0.5 0.477 0.501997 0.5119 0.7024 0.4813 0.3245 0.5399 0.51 0.67 0.48 0.3 0.4896 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 1.035872 NA NA 0.475349 0.37517 NA 0.442 NA 2.523151 1408 16 17294295 17294295 C T intronic XYLT1 NA NA NA intronic ENSG00000103489 NA NA NA NA NA 16p12.3 NA NA NA NA rs11075341 0.59 0.59 0.585 0.671725 0.4543 0.5288 0.6311 0.8797 0.7904 0.46 0.5 0.65 0.84 0.5622 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 0.774672 NA NA 0.460465 0.798361 NA 0.551 NA 2.523035 1408 4 15603069 15603069 G C UTR3 CC2D2A NM_001080522:c.*21G>C NA NA UTR3 ENSG00000048342 ENST00000413206:c.*21G>C,ENST00000424120:c.*21G>C,ENST00000503292:c.*21G>C,ENST00000389652:c.*21G>C,ENST00000506643:c.*442G>C NA NA NA NA 4p15.32 NA NA NA NA rs1134634 0.56 0.56 0.579 0.566893 0.6103 0.4861 0.5043 0.5454 0.6789 0.61 0.51 0.51 0.57 0.6053 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.794944 3.794944 NA 0.595197 0.548835 NA 0.493 NA 2.5225364 1408 3 42438754 42438754 T C UTR3 LYZL4 NM_144634:c.*3A>G NA NA UTR3 ENSG00000157093 ENST00000287748:c.*3A>G,ENST00000441172:c.*3A>G NA NA NA NA 3p22.1 NA NA NA NA rs13054 0.6 0.6 0.592 0.590855 0.5845 0.4385 0.5259 0.8669 0.4274 0.59 0.43 0.53 0.88 0.6266 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 0.208551 NA NA 0.599813 0.826809 NA 0.507 NA 2.5224204 1408 6 3285286 3285286 A G intronic SLC22A23 NA NA NA intronic ENSG00000137266,ENSG00000180822 NA NA NA NA NA 6p25.2 NA NA Name=3 NA rs10793841 0.6 0.6 0.563 0.536542 0.8867 0.5496 0.7421 0.0923 0.6176 0.89 0.55 0.74 0.12 0.7397 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 -0.765546 NA NA 0.851279 0.212892 NA 0.565 NA 2.522321 1408 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 1408 7 6431690 6431690 C T intronic RAC1 NA NA NA intronic ENSG00000136238 NA NA NA NA NA 7p22.1 NA NA NA NA rs836478 0.65 0.65 0.66 0.691494 0.4592 0.9008 0.6196 0.7489 0.6881 0.48 0.88 0.6 0.7 0.5603 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 3.382124 3.382124 NA 0.45907 0.705402 NA 0.659 NA 2.52143 1408 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 1408 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 1408 5 21121275 21121275 G C intergenic CDH18,GUSBP1 dist=1132922;dist=338314 NA NA intergenic ENSG00000251629,ENSG00000248286 dist=183475;dist=75554 NA NA NA NA 5p14.3 NA NA NA NA rs248205 0.36 0.36 0.337 0.369409 0.2525 0.5179 0.4179 0.2738 0.4315 0.24 0.57 0.4 0.27 0.3247 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.479568 NA NA 0.236313 0.259132 NA 0.377 NA 2.5198204 1408 3 185212593 185212593 T C intronic TMEM41A NA NA NA intronic ENSG00000163900 NA NA NA NA NA 3q27.2 NA NA NA NA rs6798873 0.44 0.44 0.433 0.418131 0.5139 0.3046 0.4452 0.4592 0.362 0.49 0.34 0.47 0.43 0.4637 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.052209 NA NA 0.503023 0.439855 NA 0.326 NA 2.519377 1408 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 1408 20 33068563 33068563 A T intronic ITCH NA NA NA intronic ENSG00000078747 NA NA NA NA NA 20q11.22 NA NA NA NA rs6059861 0.43 0.43 0.417 0.398562 0.504 0.4067 0.3098 0.354 0.4049 0.53 0.42 0.38 0.32 0.4758 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.010964 NA NA 0.502563 0.376256 NA 0.413 NA 2.517637 1408 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 1408 15 45353230 45353230 C T intronic SORD NA NA NA exonic ENSG00000140263 NA nonsynonymous SNV ENSG00000140263:ENST00000559230:exon4:c.C316T:p.L106F NA NA 15q21.1 NA NA NA NA rs2854446 0.88 0.88 0.86 0.860823 0.8946 0.9226 0.8934 0.8351 0.774 0.89 0.92 0.91 0.81 0.8694 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 0.807459 NA NA 0.885877 0.852138 NA 0.862 NA 2.5167897 1408 1 184695571 184695571 C T intronic EDEM3 NA NA NA intronic ENSG00000116406 NA NA NA NA NA 1q25.3 NA NA NA NA rs10752941 0.6 0.6 0.589 0.648562 0.4751 0.7004 0.5086 0.8381 0.6166 0.47 0.65 0.52 0.79 0.5334 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 0.586591 NA NA 0.474762 0.77861 NA 0.594 NA 2.516738 1408 6 117678083 117678083 A G intronic ROS1 NA NA NA intronic ENSG00000047936 NA NA NA NA NA 6q22.1 NA NA NA NA rs2243384 0.41 0.41 0.369 0.394569 0.497 0.4762 0.3905 0.2012 0.4693 0.49 0.46 0.42 0.2 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 0.3239 NA NA 0.520698 0.239446 NA 0.449 NA 2.516602 1408 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 1408 X 107448639 107448639 G T intronic COL4A6 NA NA NA intronic ENSG00000197565 NA NA NA NA NA Xq22.3 NA NA NA NA rs1266730 0.6 0.6 0.61208 NA NA NA NA NA NA 0.77 0.37 0.51 0.65 0.6893 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 0.433447 NA NA 0.794738 0.671969 ID=COSN168790;OCCURENCE=1(large_intestine) 0.449 NA 2.515962 1408 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 1409 16 456416 456416 T G intronic DECR2 NA NA NA intronic ENSG00000103202,ENSG00000242612 NA NA NA NA NA 16p13.3 NA NA NA NA rs3743890 0.4 0.4 0.384 0.403155 0.5318 0.4712 0.3732 0.2148 0.4765 0.53 0.43 0.39 0.2 0.4549 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319459 NA NA 0.498488 0.26317 NA 0.457 NA 2.514812 1409 9 35616583 35616583 A T intronic CD72 NA NA NA UTR3 ENSG00000137101 ENST00000378431:c.*6T>A NA NA NA NA 9p13.3 NA NA NA NA rs2095858 0.52 0.52 0.503 0.477236 0.5586 0.5476 0.4683 0.292 0.5777 0.58 0.55 0.53 0.38 0.5314 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.300768 2.300768 NA 0.562209 0.340218 NA 0.543 NA 2.5144577 1409 11 10631247 10631247 C T intronic MRVI1 NA NA NA intronic ENSG00000072952 NA NA NA NA NA 11p15.4 NA NA NA NA rs3741042 0.58 0.58 0.586 0.55611 0.4612 0.6905 0.4899 0.6573 0.4254 0.47 0.71 0.48 0.68 0.5266 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.10779 NA NA 0.49842 0.652209 NA 0.522 NA 2.51378 1409 3 132196816 132196816 A T intronic DNAJC13 NA NA NA intronic ENSG00000138246 NA NA NA NA NA 3q22.1 NA NA NA NA rs2369796 0.65 0.65 0.697 0.734824 0.4891 0.88 0.5115 0.9728 0.6748 0.47 0.77 0.52 0.88 0.5195 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 1.664541 1.664541 NA 0.477765 0.884266 NA 0.572 NA 2.513635 1409 11 67434010 67434010 C T intronic ALDH3B2 NA NA NA intronic ENSG00000132746 NA NA NA NA NA 11q13.2 NA NA NA NA rs1871032 0.44 0.44 0.401 0.422125 0.495 0.5992 0.6196 0.0356 0.547 0.49 0.61 0.6 0.05 0.4942 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.493768 NA NA 0.497322 0.114773 NA 0.362 NA 2.513478 1409 5 61676911 61676911 T G intronic KIF2A NA NA NA intronic ENSG00000068796 NA NA NA NA NA 5q12.1 NA NA NA NA rs247254 0.63 0.63 0.649 0.630591 0.4811 0.6845 0.5159 0.8646 0.4939 0.49 0.71 0.52 0.85 0.5274 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 -0.487989 NA NA 0.478256 0.807535 NA 0.587 NA 2.513244 1409 7 23810605 23810605 T C intronic STK31 NA NA NA intronic ENSG00000196335 NA NA NA NA NA 7p15.3 NA NA NA NA rs1469000 0.46 0.46 0.454 0.448882 0.4841 0.3889 0.5677 0.3374 0.5409 0.49 0.41 0.56 0.39 0.4956 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.289506 NA NA 0.507326 0.375397 NA 0.609 NA 2.512974 1409 1 230415025 230415025 A G intronic GALNT2 NA NA NA intronic ENSG00000143641 NA NA NA NA NA 1q42.13 NA NA NA NA rs6698963 0.7 0.7 0.716 0.722843 0.4553 0.9474 0.6556 0.8911 0.5869 0.45 0.95 0.57 0.89 0.5619 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 -0.641343 NA NA 0.470116 0.833787 NA 0.63 NA 2.512684 1409 15 69349087 69349087 T C ncRNA_UTR3 NOX5 NA NA NA UTR3 ENSG00000255346 ENST00000260364:c.*51T>C,ENST00000388866:c.*51T>C NA NA NA NA 15q23 NA Name=NRSF NA NA rs311906 0.97 0.97 0.96 0.973842 0.998 1 0.9885 0.9085 1 1 1 0.99 0.89 0.9904 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506169 NA NA 0.999069 0.911591 NA 0.978 NA 2.512531 1409 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 1409 1 38049552 38049552 C G intronic GNL2 NA NA NA intronic ENSG00000134697 NA NA NA NA NA 1p34.3 Score=788;Name=V$ISRE_01 NA NA NA rs6426024 0.79 0.79 0.744 0.730831 0.834 0.9712 0.8444 0.4523 0.6728 0.85 0.97 0.83 0.45 0.8105 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 -1.17193 NA NA 0.844535 0.512483 NA 0.71 NA 2.510965 1409 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 1409 10 18691018 18691018 G A intronic CACNB2 NA NA NA intronic ENSG00000165995 NA NA NA NA NA 10p12.32 NA NA NA NA rs3750592 0.39 0.39 0.393 0.391973 0.5219 0.373 0.389 0.2322 0.4959 0.51 0.35 0.42 0.22 0.4562 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.046916 NA NA 0.511512 0.282115 NA 0.514 NA 2.510388 1409 5 61657377 61657377 A T intronic KIF2A NA NA NA intronic ENSG00000068796 NA NA NA NA NA 5q12.1 NA NA NA NA rs247266 0.64 0.64 0.659 0.633986 0.4811 0.6825 0.5144 0.8805 0.4928 0.49 0.71 0.52 0.86 0.5314 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 1.042538 NA NA 0.47784 0.821526 NA 0.58 NA 2.50966 1409 14 75544189 75544189 G A intronic ZC2HC1C NA NA NA intronic ENSG00000119703 NA NA NA NA NA 14q24.3 NA NA NA NA rs12589876 0.52 0.52 0.493 0.496206 0.504 0.8373 0.611 0.1891 0.4703 0.49 0.81 0.55 0.21 0.5048 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 0.633303 NA NA 0.482021 0.22646 NA 0.464 NA 2.509179 1409 2 27293150 27293150 G T UTR3 AGBL5 NM_021831:c.*19G>T NA NA UTR3 ENSG00000084693 ENST00000487078:c.*276G>T,ENST00000360131:c.*19G>T NA NA NA NA 2p23.3 NA NA NA NA rs1053609 0.56 0.56 0.531 0.551917 0.6183 0.7688 0.4467 0.2912 0.6871 0.64 0.74 0.49 0.28 0.586 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.484039 NA NA 0.620209 0.3437 NA 0.514 NA 2.5088244 1409 9 137630568 137630568 C T intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs3109677 0.54 0.54 0.578 0.568291 0.502 0.5109 0.3242 0.8381 0.5041 0.51 0.49 0.34 0.79 0.4985 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 -0.103987 NA NA 0.490814 0.788016 NA 0.623 NA 2.508686 1409 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 1409 5 149576233 149576233 G A intronic SLC6A7 NA NA NA intronic ENSG00000011083 NA NA NA NA NA 5q32 NA NA NA NA rs2270145 0.41 0.41 0.359 0.358427 0.508 0.4911 0.3228 0.0923 0.453 0.53 0.47 0.41 0.13 0.4559 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.856254 NA NA 0.52814 0.171584 NA 0.355 NA 2.50796 1409 6 29912830 29912830 T C intronic HLA-A NA NA NA intronic ENSG00000206503 NA NA NA NA NA 6p22.1 NA Name=Pol2-4H8 NA NA rs2571381 0.84 0.84 0.792 0.8748 0.8181 0.9692 0.8617 0.8064 0.9376 0.81 0.95 0.82 0.79 0.85 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 -0.241067 NA NA 0.824105 0.771523 NA 0.783 NA 2.507795 1409 1 38006359 38006359 A G intronic SNIP1 NA NA NA intronic ENSG00000163877 NA NA NA Score=425;Name=lod=71 NA 1p34.3 NA NA NA NA rs2174769 0.78 0.78 0.744 0.722045 0.834 0.9702 0.8386 0.4183 0.6789 0.85 0.97 0.83 0.43 0.8128 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 0.081724 NA NA 0.845814 0.485701 NA 0.732 NA 2.507386 1409 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 1409 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 1409 7 142378831 142378831 C G intergenic MTRNR2L6,PRSS1 dist=3306;dist=78488 NA NA exonic ENSG00000211751 NA synonymous SNV ENSG00000211751:ENST00000390398:exon2:c.C99G:p.G33G NA NA 7q34 NA NA NA NA rs76429157 0.99 0.99 0.981 NA NA NA NA NA NA 1 1 0.99 0.95 0.9951 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.370758 NA NA 0.999878 0.948846 NA 1 NA 2.505022 1410 5 176931706 176931706 G C intronic DOK3 NA NA NA intronic ENSG00000146094 NA NA NA NA NA 5q35.3 NA NA NA NA rs179810 0.43 0.43 0.404 0.414537 0.5089 0.3363 0.562 0.3245 0.4151 0.49 0.33 0.56 0.33 0.4841 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.625644 NA NA 0.502444 0.359709 NA 0.362 NA 2.504556 1410 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 1410 X 151283599 151283599 T G UTR3 MAGEA10-MAGEA5,MAGEA5 NM_001204811:c.*39A>C;NM_021049:c.*39A>C NA NA ncRNA_exonic ENSG00000242520,ENSG00000266560 NA NA NA NA NA Xq28 NA NA NA NA rs210576 1 1 0.98251 NA NA NA NA NA NA 1 1 1 0.98 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 -0.570914 NA NA 0.999851 0.965059 NA 0.746 NA 2.503749 1410 7 100391644 100391644 T C intronic ZAN NA NA NA exonic ENSG00000146839 NA unknown UNKNOWN NA NA 7q22.1 NA Name=CTCF NA NA rs314340 0.99 0.99 0.994 0.98722 1 1 0.9899 0.9569 1 1 1 0.99 0.98 0.9971 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.483382 NA NA 0.999281 0.975012 NA 0.986 NA 2.503619 1410 3 54919272 54919272 A G ncRNA_intronic CACNA2D3-AS1 NA NA NA ncRNA_intronic ENSG00000243715 NA NA NA NA NA 3p14.3 NA NA NA NA rs1405330 0.83 0.83 0.842 0.851837 0.7197 0.8829 0.8401 0.9682 0.8067 0.72 0.89 0.82 0.95 0.7596 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 -0.724607 NA NA 0.684274 0.928943 NA 0.739 NA 2.5030926 1410 20 32298323 32298323 C T intronic PXMP4 NA NA NA intronic ENSG00000101417 NA NA NA NA NA 20q11.22 NA NA NA NA rs2626529 0.63 0.63 0.632 0.626597 0.4811 0.7887 0.5447 0.6838 0.59 0.5 0.8 0.53 0.71 0.5361 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 -0.252832 NA NA 0.479879 0.633227 NA 0.551 NA 2.502921 1410 7 5430283 5430283 G A intronic TNRC18 NA NA NA intronic ENSG00000182095 NA NA NA NA NA 7p22.1 NA NA NA NA rs67295626 0.5 0.5 0.48 0.460663 0.499 0.8313 0.4885 0.0998 0.5072 0.51 0.84 0.48 0.11 0.5412 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 0.302896 NA NA 0.457478 0.164062 NA 0.428 NA 2.502322 1410 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 1410 19 1810605 1810605 T C intronic ATP8B3 NA NA NA intronic ENSG00000130270 NA NA NA NA NA 19p13.3 NA NA Name=2 NA rs716993 0.86 0.86 0.866 0.853035 0.826 0.8859 0.8573 0.879 0.8088 0.82 0.88 0.86 0.9 0.8338 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 -0.507639 NA NA 0.838264 0.881764 NA 0.906 NA 2.501936 1410 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 1410 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 1410 6 107003810 107003810 T C intronic AIM1 NA NA NA intronic ENSG00000112297 NA NA NA NA NA 6q21 NA NA Name=6 NA rs2066202 0.7 0.7 0.693 0.695088 0.8211 0.6538 0.732 0.4992 0.8466 0.82 0.67 0.75 0.5 0.806 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 0.614163 NA NA 0.871744 0.55379 NA 0.739 NA 2.501156 1410 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 1410 9 130869499 130869499 A T intronic SLC25A25 NA NA NA exonic ENSG00000148339 NA unknown UNKNOWN NA NA 9q34.11 NA NA NA NA rs4837239 1 1 0.999 0.998403 1 1 0.9986 0.9947 1 1 1 1 1 0.9995 1 . . . . . . . . 1.000 P . . . . -1.028 T 0.000 T . -1.394 0.024 -1.28 -0.483 0.787 2.969 -1.394288 NA NA 1 0.994099 NA 0.971 NA 2.5005 1410 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 1410 12 104149251 104149251 C T intronic STAB2 NA NA NA ncRNA_intronic ENSG00000257681 NA NA NA NA NA 12q23.3 NA Name=Pol2 NA NA rs7296626 0.97 0.97 0.978 0.977037 0.9374 1 0.9813 0.9962 0.9652 0.93 1 0.99 1 0.9572 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.448947 1.448947 NA 0.938372 0.987517 NA 0.986 NA 2.5003613 1410 8 141840645 141840645 G A intronic PTK2 NA NA NA intronic ENSG00000169398 NA NA NA NA NA 8q24.3 NA NA NA NA rs4246127 0.61 0.61 0.603 0.641374 0.4573 0.6071 0.6686 0.8434 0.5736 0.46 0.64 0.58 0.83 0.5895 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 0.5443 NA NA 0.453099 0.779118 NA 0.572 NA 2.500101 1410 1 85787114 85787114 A T UTR3 DDAH1 NM_012137:c.*21T>A,NM_001134445:c.*21T>A NA NA ncRNA_UTR3 ENSG00000153904 NA NA NA NA NA 1p22.3 NA NA NA NA rs233116 1 1 1 1 1 1 1 1 1 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 -0.104034 NA NA NA NA NA 0.986 NA 2.5 1410 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 1410 15 78474517 78474517 T C intronic ACSBG1 NA NA NA intronic ENSG00000103740 NA NA NA NA NA 15q25.1 NA Name=USF-1,CTCF,CTCFL_(SC-98982) NA NA rs6495277 0.87 0.87 0.876 0.890775 0.826 0.8919 0.9236 0.9334 0.8753 0.83 0.88 0.89 0.93 0.8529 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 -0.038551 NA NA 0.82157 0.912568 NA 0.819 NA 2.49953 1410 8 71012811 71012811 A G intergenic PRDM14,NCOA2 dist=29249;dist=11456 NA NA intergenic ENSG00000212473,ENSG00000253173 dist=22544;dist=3217 NA NA NA NA 8q13.3 NA NA NA NA rs1106334 0.36 0.36 0.386 0.371206 0.2654 0.5149 0.2522 0.3911 0.3896 0.26 0.5 0.23 0.43 0.3003 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134245 NA NA 0.268458 0.379566 NA 0.341 NA 2.4991754 1410 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 1410 22 50483850 50483850 T C intergenic IL17REL,MLC1 dist=32795;dist=13970 NA NA intronic ENSG00000138892 NA NA NA NA NA 22q13.33 NA NA NA NA rs8138121 0.25 0.25 0.249 0.2502 0.3976 0.1518 0.2233 0.1626 0.3374 0.41 0.13 0.26 0.14 0.3569 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.275454 NA NA 0.413633 0.179762 NA 0.268 NA 2.4985337 1410 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 1410 3 132244406 132244406 G A intronic DNAJC13 NA NA NA intronic ENSG00000138246 NA NA NA NA NA 3q22.1 NA NA NA NA rs754993 0.72 0.72 0.755 0.733826 0.4761 0.8819 0.5072 0.9796 0.6748 0.49 0.93 0.53 0.97 0.5597 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 0.714314 NA NA 0.466047 0.886642 NA 0.783 NA 2.498153 1410 11 24750842 24750842 G A intronic LUZP2 NA NA NA intronic ENSG00000187398 NA NA NA NA NA 11p14.3 NA NA NA NA rs7128434 0.57 0.57 0.562 0.563498 0.4831 0.4395 0.5951 0.8116 0.4162 0.49 0.44 0.59 0.81 0.5248 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 1.35474 1.35474 NA 0.495579 0.753633 NA 0.529 NA 2.496521 1410 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 1410 1 213032568 213032568 T A intronic FLVCR1 NA NA NA intronic ENSG00000162769 NA NA NA NA NA 1q32.3 NA NA NA NA rs12023052 0.43 0.43 0.414 0.421126 0.5268 0.5327 0.2896 0.2156 0.5685 0.52 0.53 0.34 0.25 0.4764 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.031125 NA NA 0.500581 0.273491 NA 0.442 NA 2.496219 1410 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 1410 1 20216860 20216860 G A intronic OTUD3 NA NA NA intronic ENSG00000169914 NA NA NA NA NA 1p36.13 NA NA NA NA rs10799593 0.47 0.47 0.462 0.454073 0.497 0.2331 0.5375 0.6241 0.3487 0.52 0.26 0.56 0.58 0.4904 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.275393 NA NA 0.516888 0.614551 NA 0.609 NA 2.495712 1410 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 1410 19 18466840 18466840 C T intronic PGPEP1 NA NA NA intronic ENSG00000130517 NA NA NA NA NA 19p13.11 NA NA NA NA rs34068189 0.33 0.33 0.308 0.299321 0.5278 0.1696 0.4135 0.1097 0.3732 0.53 0.18 0.43 0.12 0.4408 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.643267 NA NA 0.536395 0.159101 NA 0.326 NA 2.495005 1411 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 1411 19 49894217 49894217 G T intronic CCDC155 NA NA NA intronic ENSG00000161609 NA NA NA NA NA 19q13.33 NA NA NA NA rs7256984 0.48 0.48 0.456 0.507788 0.493 0.5129 0.3948 0.4637 0.6575 0.47 0.51 0.42 0.48 0.5092 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17315 NA NA 0.502894 0.452976 NA 0.58 NA 2.494906 1411 8 12973078 12973078 T C intronic DLC1 NA NA NA intronic ENSG00000164741 NA NA NA NA NA 8p22 NA NA NA NA rs34462909 0.4 0.4 0.347 0.394569 0.5119 0.3363 0.4409 0.2587 0.4847 0.5 0.34 0.48 0.23 0.485 0.51 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.855937 NA NA 0.508372 0.278484 NA 0.391 NA 2.494728 1411 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 1411 17 72537894 72537894 A G intronic CD300C NA NA NA intronic ENSG00000167850 NA NA NA NA NA 17q25.1 NA NA NA NA rs2140253 0.5 0.5 0.537 0.536342 0.4851 0.2639 0.4207 0.8268 0.5593 0.49 0.27 0.41 0.82 0.5316 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 -0.827099 NA NA 0.4893 0.77861 NA 0.471 NA 2.494 1411 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 1411 9 135273507 135273507 G A intronic TTF1 NA NA NA intronic ENSG00000125482 NA NA NA NA NA 9q34.13 NA Name=CTCF NA NA rs569288 0.74 0.74 0.706 0.71885 0.8529 0.7103 0.8199 0.5393 0.7607 0.86 0.72 0.83 0.51 0.7996 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 -0.101929 NA NA 0.855199 0.578338 NA 0.754 NA 2.492301 1411 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 1411 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 1411 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 1411 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 1411 16 11361895 11361895 C G intronic TNP2 NA NA NA intronic ENSG00000175643,ENSG00000178279 NA NA NA NA NA 16p13.13 NA NA NA NA rs8043625 0.38 0.38 0.381 0.340855 0.5338 0.2748 0.3458 0.2648 0.3098 0.54 0.26 0.39 0.28 0.4409 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.188503 NA NA 0.534687 0.271191 NA 0.341 NA 2.490613 1411 3 123047666 123047666 A G intronic ADCY5 NA NA NA intronic ENSG00000173175 NA NA NA Score=538;Name=lod=205 NA 3q21.1 NA NA NA NA rs9855969 0.86 0.86 0.875 0.885184 0.8211 0.9643 0.8372 0.9183 0.8589 0.8 0.96 0.81 0.9 0.8515 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 1.813886 1.813886 NA 0.83686 0.912846 NA 0.899 NA 2.49054 1411 11 118210106 118210106 G C intronic CD3D NA NA NA intronic ENSG00000167286 NA NA NA NA NA 11q23.3 NA NA NA NA rs2276423 0.74 0.74 0.74 0.711661 0.7714 0.8006 0.572 0.6445 0.7485 0.76 0.79 0.65 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 0.925462 NA NA 0.738843 0.684249 NA 0.674 NA 2.489757 1411 6 29797173 29797173 A G intronic HLA-G NA NA NA intronic ENSG00000204632 NA NA NA NA NA 6p22.1 NA NA NA NA rs1736920 0.55 0.55 0.561 0.598043 0.4592 0.6101 0.5548 0.621 0.728 0.45 0.65 0.56 0.59 0.5438 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 -0.216972 NA NA 0.507442 0.606219 NA 0.623 NA 2.489558 1411 11 76701657 76701657 G A intronic ACER3 NA NA NA intronic ENSG00000078124 NA NA NA NA NA 11q13.5 NA NA NA NA rs3740766 0.3 0.3 0.303 0.29972 0.505 0.2371 0.2983 0.059 0.4796 0.51 0.25 0.3 0.05 0.456 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.573295 NA NA 0.549522 0.143409 ID=COSN164003;OCCURENCE=1(NS) 0.384 NA 2.489478 1411 3 189625218 189625218 G A intergenic TP63,LEPREL1 dist=10150;dist=49299 NA NA intergenic ENSG00000073282,ENSG00000090530 dist=10150;dist=49299 NA NA NA NA 3q28 NA NA NA NA rs1515488 0.25 0.25 0.242 0.236222 0.2952 0.1577 0.2118 0.2761 0.2198 0.3 0.15 0.22 0.3 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 -0.55881 NA NA 0.283526 0.247717 NA 0.232 NA 2.4892074 1411 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 1411 2 20189089 20189089 C T intronic WDR35 NA NA NA intronic ENSG00000118965 NA NA NA NA NA 2p24.1 NA NA NA NA rs3731663 0.6 0.6 0.635 0.621605 0.4682 0.6518 0.513 0.7738 0.6196 0.47 0.68 0.52 0.77 0.5468 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 -0.839892 NA NA 0.49686 0.707217 NA 0.449 NA 2.48814 1411 9 139412197 139412197 G A intronic NOTCH1 NA NA NA intronic ENSG00000148400 NA NA NA NA NA 9q34.3 NA NA NA NA rs9411208 0.69 0.69 0.64 0.696286 0.4751 0.9286 0.5965 0.7655 0.6616 0.49 0.93 0.6 0.77 0.5768 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 0.172529 NA NA 0.460407 0.746338 NA 0.572 NA 2.487693 1411 11 10522983 10522983 G T intronic AMPD3 NA NA NA intronic ENSG00000133805 NA NA NA NA NA 11p15.4 NA NA NA NA rs1870951 0.5 0.5 0.46 0.475439 0.505 0.6905 0.5937 0.2458 0.4499 0.5 0.66 0.56 0.27 0.5111 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 1.616701 1.616701 NA 0.496623 0.297863 NA 0.507 NA 2.487277 1411 9 136536633 136536633 G A intronic SARDH NA NA NA intronic ENSG00000123453 NA NA NA NA NA 9q34.2 NA NA NA NA rs2797840 0.63 0.63 0.633 0.6248 0.4781 0.7976 0.6009 0.6944 0.5204 0.48 0.79 0.59 0.71 0.5707 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 -0.219673 NA NA 0.463986 0.630871 NA 0.63 NA 2.487214 1411 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 1411 14 23394069 23394069 A C intronic PRMT5 NA NA NA ncRNA_intronic ENSG00000237054 NA NA NA NA NA 14q11.2 NA NA NA NA rs1956881 0.61 0.61 0.594 0.629593 0.6143 0.8016 0.6556 0.3835 0.7822 0.62 0.78 0.65 0.38 0.632 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 -1.387327 NA NA 0.600233 0.418066 NA 0.58 NA 2.4868003 1411 20 61441035 61441035 G A intronic OGFR NA NA NA intronic ENSG00000060491 NA NA NA NA NA 20q13.33 NA NA NA NA rs2277772 0.52 0.52 0.567 0.55012 0.5169 0.4752 0.4611 0.6309 0.6155 0.53 0.45 0.46 0.62 0.5092 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146012 NA NA 0.487317 0.631304 NA 0.522 NA 2.486583 1411 2 86509388 86509388 T G intronic REEP1 NA NA NA intronic ENSG00000068615 NA NA NA NA NA 2p11.2 NA NA NA NA rs1863059 0.58 0.58 0.573 0.583866 0.496 0.6488 0.6556 0.6082 0.5235 0.51 0.66 0.62 0.57 0.5395 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 0.068309 NA NA 0.478372 0.596005 NA 0.522 NA 2.486128 1411 18 224184 224184 C G intronic THOC1 NA NA NA exonic ENSG00000079134 NA unknown UNKNOWN NA NA 18p11.32 NA NA NA NA rs631343 0.66 0.66 0.671 0.701078 0.661 0.5317 0.7392 0.7458 0.8292 0.66 0.56 0.73 0.73 0.7068 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 0.370038 NA NA 0.646109 0.706849 NA 0.703 NA 2.486091 1411 2 65481008 65481008 A C intronic ACTR2 NA NA NA intronic ENSG00000138071 NA NA NA NA NA 2p14 Score=815;Name=V$IRF2_01 NA NA NA rs268871 0.82 0.82 0.815 0.786941 0.8479 0.7748 0.7723 0.8147 0.7096 0.84 0.81 0.83 0.81 0.8187 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 2.661268 2.661268 NA 0.847558 0.814571 NA 0.783 NA 2.485842 1411 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 1411 10 81917708 81917708 A G intronic ANXA11 NA NA NA intronic ENSG00000122359 NA NA NA NA NA 10q22.3 NA NA NA NA rs1079242 0.46 0.46 0.427 0.408147 0.5368 0.5843 0.5346 0.1581 0.3425 0.53 0.6 0.48 0.16 0.4726 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.644618 NA NA 0.505116 0.224013 NA 0.304 NA 2.485484 1411 X 40514322 40514322 G A intronic MED14 NA NA NA intronic ENSG00000180182 NA NA NA NA NA Xp11.4 NA NA NA NA rs11266293 0.59 0.59 0.59936 NA NA NA NA NA NA 0.82 0.69 0.56 0.16 0.7054 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 0.93406 NA NA 0.809156 0.225815 NA 0.42 NA 2.485444 1411 3 122821672 122821672 T A intronic PDIA5 NA NA NA intronic ENSG00000065485 NA NA NA Score=355;Name=lod=37 NA 3q21.1 NA NA NA NA rs61182591 0.68 0.68 0.142 0.776757 0.9433 0.7649 0.8055 0.6543 0.7628 0.79 0.67 0.74 0.5 0.8723 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 2.30864 2.30864 NA 0.699186 0.403995 NA NA NA 2.485214 1412 7 48017965 48017965 C T intronic HUS1 NA NA NA intronic ENSG00000136273 NA NA NA NA NA 7p12.3 NA NA NA NA rs2242477 0.47 0.47 0.45 0.427915 0.5199 0.5129 0.4928 0.2958 0.3783 0.54 0.49 0.49 0.32 0.4863 0.54 NA NA 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 0.508953 0.322288 NA 0.572 NA 2.484847 1412 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 1412 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 1412 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 1412 17 79912103 79912103 C T intronic NOTUM NA NA NA intronic ENSG00000185269 NA NA NA NA NA 17q25.3 NA NA NA NA rs4796851 0.39 0.39 0.402 0.380791 0.5239 0.2371 0.4006 0.3533 0.4049 0.53 0.25 0.43 0.34 0.4641 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.711226 NA NA 0.529651 0.371993 NA 0.543 NA 2.482349 1412 8 144732026 144732026 G A UTR5 ZNF623 NM_014789:c.-17G>A NA NA UTR5 ENSG00000183309 ENST00000501748:c.-17G>A NA NA NA NA 8q24.3 NA NA NA NA rs3750203 0.36 0.36 0.339 0.324681 0.6571 0.1379 0.4726 0.0552 0.4346 0.66 0.13 0.52 0.07 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 0.142683 NA NA 0.662209 0.146618 NA 0.319 NA 2.4822244 1412 9 73164611 73164611 G A intronic TRPM3 NA NA NA intronic ENSG00000083067 NA NA NA NA NA 9q21.12 NA NA NA NA rs1889914 0.53 0.53 0.499 0.479233 0.5189 0.7004 0.5331 0.3752 0.3129 0.53 0.71 0.5 0.35 0.5042 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.832313 NA NA 0.495 0.379936 NA 0.37 NA 2.4819 1412 13 103524762 103524762 C T intronic BIVM-ERCC5,ERCC5 NA NA NA intronic ENSG00000134899 NA NA NA NA NA 13q33.1 NA NA NA NA rs4150360 0.33 0.33 0.304 0.317093 0.5268 0.1895 0.3372 0.1778 0.407 0.52 0.19 0.38 0.18 0.4513 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.500141 2.500141 NA 0.540116 0.228325 NA 0.355 NA 2.481784 1412 1 231060736 231060736 T C intronic TTC13 NA NA NA intronic ENSG00000143643 NA NA NA NA NA 1q42.2 NA NA NA NA rs3748775 0.49 0.49 0.484 0.485224 0.507 0.5565 0.6297 0.3351 0.4898 0.51 0.56 0.59 0.32 0.5107 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.339841 NA NA 0.500814 0.337267 NA 0.464 NA 2.481486 1412 1 231067236 231067236 C T intronic TTC13 NA NA NA intronic ENSG00000143643 NA NA NA NA NA 1q42.2 NA NA NA NA rs11122624 0.49 0.49 0.479 0.485024 0.507 0.5565 0.6297 0.3343 0.4898 0.51 0.56 0.59 0.32 0.5109 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.487072 NA NA 0.50093 0.334544 NA 0.464 NA 2.48117 1412 7 48017989 48017989 T C intronic HUS1 NA NA NA intronic ENSG00000136273 NA NA NA NA NA 7p12.3 NA NA NA NA rs2242478 0.47 0.47 0.455 0.433307 0.5199 0.5129 0.4942 0.3154 0.3783 0.54 0.49 0.49 0.34 0.4891 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.73674 1.73674 NA 0.510349 0.341126 NA 0.572 NA 2.480651 1412 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 1412 2 112856165 112856165 C A intronic TMEM87B NA NA NA intronic ENSG00000153214 NA NA NA NA NA 2q13 NA NA NA NA rs4849007 0.65 0.65 0.683 0.616214 0.493 0.88 0.4957 0.7239 0.411 0.47 0.88 0.54 0.72 0.5173 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 -1.08214 NA NA 0.510116 0.682478 NA 0.58 NA 2.479584 1412 4 25408516 25408516 T A intronic ANAPC4 NA NA NA intronic ENSG00000053900 NA NA NA NA NA 4p15.2 NA NA NA NA rs3214034 0.35 0.35 0.298 0.300919 0.5427 0.1845 0.4625 0.118 0.3047 0.54 0.2 0.47 0.13 0.4569 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.869574 NA NA 0.520877 0.168647 NA 0.341 NA 2.479523 1412 16 84520223 84520223 A T intronic TLDC1 NA NA NA intronic ENSG00000140950 NA NA NA NA NA 16q24.1 NA NA NA NA rs431629 0.6 0.6 0.557 0.636581 0.4831 0.8978 0.6643 0.4289 0.7863 0.5 0.9 0.6 0.4 0.5674 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 -0.893808 NA NA 0.470465 0.453636 NA 0.529 NA 2.479035 1412 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 1412 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 1412 16 774520 774520 C T intronic CCDC78 NA NA NA intronic ENSG00000162004 NA NA NA NA NA 16p13.3 NA NA NA NA rs4984921 0.56 0.56 0.52 0.589657 0.4682 0.7669 0.5922 0.3941 0.7945 0.48 0.77 0.55 0.43 0.608 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 0.144071 NA NA 0.44501 0.375424 NA 0.435 NA 2.47879 1412 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 1412 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 1412 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 1412 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 1412 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 1412 6 35715303 35715303 G C intronic ARMC12 NA NA NA intronic ENSG00000157343 NA NA NA NA NA 6p21.31 NA NA NA NA rs2252881 0.55 0.55 0.553 0.579673 0.4881 0.3968 0.4496 0.8722 0.5593 0.49 0.38 0.48 0.88 0.529 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 0.219674 NA NA 0.506977 0.800272 NA 0.572 NA 2.475923 1412 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 1412 16 4723451 4723451 A G intronic MGRN1 NA NA NA intronic ENSG00000102858 NA NA NA NA NA 16p13.3 NA NA NA NA rs2289314 0.54 0.54 0.544 0.491014 0.499 0.6409 0.4712 0.4592 0.3855 0.51 0.68 0.47 0.49 0.5027 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428498 NA NA 0.523229 0.496767 NA 0.536 NA 2.475071 1413 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 1413 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 1413 2 197866470 197866470 T A intronic ANKRD44 NA NA NA intronic ENSG00000065413 NA NA NA Score=510;Name=lod=158 NA 2q33.1 NA NA NA NA rs12478175 0.77 0.77 0.746 0.745607 0.8469 0.9603 0.853 0.3555 0.8712 0.85 0.95 0.86 0.35 0.8294 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 1.4104 1.4104 NA 0.84907 0.454153 NA 0.732 NA 2.47463 1413 15 65273399 65273399 T C intronic SPG21 NA NA NA UTR5 ENSG00000090487 ENST00000559199:c.-10849A>G NA NA NA NA 15q22.31 NA NA NA NA rs4776659 0.62 0.62 0.601 0.546925 0.5825 0.8611 0.6916 0.354 0.3446 0.6 0.85 0.65 0.35 0.5519 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 0.864507 NA NA 0.557688 0.397593 NA 0.638 NA 2.4745787 1413 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 1413 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 1413 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 1413 5 79172136 79172136 A G intergenic CMYA5,MTX3 dist=76087;dist=100403 NA NA intergenic ENSG00000238254,ENSG00000250888 dist=26467;dist=60266 NA NA NA NA 5q14.1 NA NA NA NA rs265005 0.24 0.24 0.193 0.254393 0.2445 0.248 0.3934 0.1551 0.3067 0.25 0.24 0.36 0.13 0.3481 0.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.08416 NA NA 0.268709 0.183219 NA 0.312 NA 2.4720244 1413 12 23696116 23696116 C T intronic SOX5 NA NA NA intronic ENSG00000134532 NA NA NA NA NA 12p12.1 NA NA NA NA rs7485662 0.47 0.47 0.457 0.486821 0.492 0.4405 0.5101 0.4887 0.5102 0.49 0.45 0.48 0.45 0.515 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021053 NA NA 0.521163 0.51271 NA 0.507 NA 2.471837 1413 13 50095127 50095127 A G intronic PHF11 NA NA NA intronic ENSG00000136147 NA NA NA NA NA 13q14.2 NA NA NA NA rs3765526 0.46 0.46 0.426 0.392372 0.5179 0.4683 0.5303 0.2405 0.2924 0.53 0.5 0.51 0.25 0.4765 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.882862 1.882862 NA 0.533953 0.294598 NA 0.319 NA 2.471647 1413 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 1413 8 27762235 27762235 T C intronic SCARA5 NA NA NA ncRNA_UTR3 ENSG00000168079 NA NA NA NA NA 8p21.1 NA NA NA NA rs2726984 0.53 0.53 0.502 0.513379 0.6561 0.4514 0.5519 0.3956 0.5624 0.64 0.47 0.57 0.39 0.5802 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.286483 NA NA 0.626021 0.45159 NA 0.42 NA 2.4710123 1413 2 141298682 141298682 G C intronic LRP1B NA NA NA intronic ENSG00000168702 NA NA NA NA NA 2q22.1 NA NA NA NA rs11694934 0.51 0.51 0.474 0.504792 0.505 0.5853 0.4438 0.3918 0.6176 0.52 0.58 0.48 0.45 0.5084 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.538737 NA NA 0.516279 0.454153 NA 0.435 NA 2.470321 1413 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 1413 8 145668042 145668042 G A intronic TONSL NA NA NA intronic ENSG00000160949 NA NA NA NA NA 8q24.3 NA NA NA NA rs741969 0.48 0.48 0.488 0.447284 0.5159 0.374 0.4669 0.4879 0.3834 0.53 0.4 0.49 0.49 0.4895 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.14499 NA NA 0.524302 0.480481 NA 0.428 NA 2.470298 1413 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 1413 19 36640769 36640769 T C UTR3 CAPNS1 NM_001749:c.*28T>C,NM_001003962:c.*28T>C NA NA UTR3 ENSG00000126247 ENST00000246533:c.*28T>C,ENST00000589146:c.*28T>C,ENST00000587718:c.*42T>C,ENST00000590874:c.*28T>C,ENST00000588815:c.*28T>C,ENST00000588780:c.*28T>C NA NA NA NA 19q13.12 NA NA Name=2 NA rs14100 0.98 0.98 0.977 0.974042 0.9553 0.999 0.9611 0.9985 0.9438 0.96 1 0.96 1 0.9623 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.00063 NA NA 0.946395 0.989106 NA 0.971 NA 2.4693384 1413 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 1413 9 136031346 136031346 A G intronic GBGT1 NA NA NA intronic ENSG00000148288,ENSG00000160271 NA NA NA NA NA 9q34.2 NA NA NA NA rs2073927 0.6 0.6 0.597 0.577875 0.5089 0.5427 0.5288 0.7988 0.4213 0.53 0.57 0.55 0.78 0.5273 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 -0.723369 NA NA 0.495465 0.738311 NA 0.587 NA 2.468335 1413 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 1413 5 149584981 149584981 A G intronic SLC6A7 NA NA NA intronic ENSG00000011083 NA NA NA NA NA 5q32 NA NA NA NA rs4705425 0.48 0.48 0.46 0.479633 0.5139 0.4583 0.353 0.5537 0.456 0.51 0.42 0.42 0.56 0.4909 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.638223 NA NA 0.529302 0.552429 NA 0.507 NA 2.465898 1413 13 95097956 95097956 C T intronic DCT NA NA NA exonic ENSG00000080166 NA synonymous SNV ENSG00000080166:ENST00000483392:exon6:c.G669A:p.G223G NA NA 13q32.1 NA NA NA NA rs755684 0.63 0.63 0.619 0.628594 0.8072 0.245 0.5749 0.7973 0.6503 0.81 0.23 0.64 0.82 0.7531 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 -0.855079 NA NA 0.807263 0.801658 NA 0.725 NA 2.4657703 1413 21 47422639 47422639 A G intronic COL6A1 NA NA NA intronic ENSG00000142156 NA NA NA NA NA 21q22.3 NA NA NA NA rs2236485 0.9 0.9 0.878 0.874201 0.8767 0.8562 0.9352 0.9387 0.7597 0.87 0.87 0.93 0.94 0.7996 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 -0.667426 NA NA 0.85799 0.924841 NA 0.616 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079791.1;CLNDSDB=.;CLNDSDBID=. 2.46571 1413 18 61066463 61066463 A G intronic VPS4B NA NA NA intronic ENSG00000119541 NA NA NA NA NA 18q21.33 NA NA NA NA rs2276317 0.61 0.61 0.611 0.64397 0.4801 0.8819 0.6052 0.5318 0.7464 0.46 0.91 0.6 0.5 0.5679 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 0.332436 NA NA 0.486628 0.547208 NA 0.623 NA 2.465372 1413 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 1413 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 1414 3 160021681 160021681 G A intronic IFT80 NA NA NA intronic ENSG00000068885,ENSG00000248710 NA NA NA NA NA 3q25.33 NA NA NA NA rs4680576 0.46 0.46 0.453 0.441294 0.5159 0.244 0.4467 0.5893 0.364 0.53 0.24 0.46 0.6 0.4898 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.682491 NA NA 0.529583 0.555455 NA 0.551 NA 2.464717 1414 3 122821671 122821671 A G intronic PDIA5 NA NA NA intronic ENSG00000065485 NA NA NA Score=355;Name=lod=37 NA 3q21.1 NA NA NA NA rs2241963 0.68 0.68 0.251 0.776757 0.9433 0.7649 0.8055 0.6543 0.7628 0.79 0.67 0.74 0.5 0.8724 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 2.923044 2.923044 NA 0.719651 0.417612 NA NA NA 2.464649 1414 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 1414 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=eGFP-GATA2,GATA-1,USF1_(SC-8983) 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 1414 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 1414 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 1414 1 22199821 22199821 G A intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA Name=Pol2(b) NA NA rs2454290 0.79 0.79 0.779 0.742013 0.8618 0.9722 0.8674 0.4198 0.728 0.86 0.98 0.86 0.42 0.8192 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 0.528026 NA NA 0.85593 0.493872 NA 0.79 NA 2.46307 1414 12 102295218 102295218 T C intronic DRAM1 NA NA NA intronic ENSG00000136048 NA NA NA NA NA 12q23.2 NA NA NA NA rs7295569 0.7 0.7 0.642 0.742612 0.5318 0.9167 0.5922 0.9228 0.6431 0.48 0.9 0.57 0.88 0.6195 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 0.277544 NA NA 0.38595 0.803694 NA 0.391 NA 2.46275 1414 13 60590299 60590299 C T ncRNA_intronic DIAPH3-AS1 NA NA NA ncRNA_intronic ENSG00000227528 NA NA NA NA NA 13q21.2 NA NA NA NA rs2762134 0.69 0.69 0.692 0.71845 0.7207 0.5615 0.7997 0.7814 0.7352 0.71 0.54 0.81 0.75 0.7292 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 -0.109037 NA NA 0.754114 0.80508 NA 0.768 NA 2.4626526 1414 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 1414 1 116283343 116283343 A G intronic CASQ2 NA NA NA intronic ENSG00000118729 NA NA NA NA NA 1p13.1 NA NA NA NA rs9428083 0.66 0.66 0.604 0.64357 0.8738 0.7431 0.7608 0.2814 0.7106 0.86 0.68 0.78 0.25 0.7872 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 0.440393 NA NA 0.878023 0.37744 NA 0.681 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037139.1;CLNDSDB=.;CLNDSDBID=. 2.460977 1414 12 51404467 51404467 C T intronic SLC11A2 NA NA NA intronic ENSG00000110911 NA NA NA NA NA 12q13.12 NA NA NA NA rs427020 0.35 0.35 0.339 0.311901 0.5408 0.0923 0.4236 0.2874 0.2566 0.55 0.09 0.44 0.28 0.4525 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.350138 NA NA 0.545814 0.324557 NA 0.406 NA 2.460886 1414 9 97369083 97369083 G A intronic FBP1 NA NA NA intronic ENSG00000165140 NA NA NA NA NA 9q22.32 NA NA NA NA rs2297084 0.5 0.5 0.513 0.483227 0.496 0.3978 0.7003 0.4599 0.4356 0.5 0.41 0.68 0.46 0.5266 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.59392 NA NA 0.516744 0.476396 NA 0.529 NA 2.460656 1414 14 77796641 77796641 G A intronic GSTZ1 NA NA NA UTR3 ENSG00000100577 ENST00000554381:c.*35G>A NA NA NA NA 14q24.3 NA NA NA NA rs731346 0.64 0.64 0.664 0.651158 0.5676 0.5397 0.5288 0.9334 0.5573 0.58 0.55 0.55 0.91 0.5795 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 0.298862 NA NA 0.56 0.88266 NA 0.623 NA 2.4595667 1414 2 174123399 174123399 A G ncRNA_intronic MLK7-AS1 NA NA NA ncRNA_intronic ENSG00000238133 NA NA NA NA NA 2q31.1 NA NA NA NA rs820008 0.73 0.73 NA 0.703874 0.7376 0.7887 0.6124 0.7179 0.6278 0.75 0.78 0.64 0.73 0.7227 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 1.845776 1.845776 NA 0.7476 0.730084 NA 0.609 NA 2.4587666 1414 18 12429313 12429313 C T intronic SLMO1 NA NA NA intronic ENSG00000141391 NA NA NA NA NA 18p11.21 NA NA NA NA rs3760550 0.44 0.44 0.446 0.400958 0.5408 0.5 0.4452 0.1543 0.4571 0.53 0.53 0.44 0.19 0.4748 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.752519 NA NA 0.526395 0.215615 NA 0.435 NA 2.458005 1414 10 12212186 12212186 T A intronic NUDT5 NA NA NA intronic ENSG00000165609 NA NA NA NA NA 10p13 NA NA NA NA rs11257577 0.5 0.5 0.508 0.522364 0.5179 0.4425 0.4755 0.5219 0.6431 0.5 0.44 0.51 0.57 0.5203 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280074 NA NA 0.50452 0.51484 NA 0.471 NA 2.45728 1414 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 1414 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 1414 22 41568480 41568480 T C intronic EP300 NA NA NA ncRNA_intronic ENSG00000232754 NA NA NA NA NA 22q13.2 NA NA NA NA rs2076577 0.54 0.54 0.519 0.534145 0.6332 0.5913 0.7478 0.1732 0.7096 0.62 0.6 0.75 0.18 0.6229 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 0.32277 NA NA 0.620116 0.248979 ID=COSN166760;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.507 NA 2.4571173 1414 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 1414 6 151125896 151125896 G A intronic PLEKHG1 NA NA NA intronic ENSG00000120278 NA NA NA NA NA 6q25.1 NA NA NA NA rs712218 0.53 0.53 0.557 0.515176 0.5338 0.5823 0.4568 0.4569 0.547 0.53 0.58 0.49 0.49 0.5036 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.999334 NA NA 0.506512 0.469133 NA 0.681 NA 2.456088 1414 5 112884728 112884728 G A intronic YTHDC2 NA NA NA intronic ENSG00000047188 NA NA NA NA NA 5q22.2 NA NA NA NA rs4639215 0.58 0.58 0.593 0.57488 0.502 0.3244 0.5922 0.9667 0.3661 0.52 0.33 0.56 0.96 0.5301 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 1.254629 1.254629 NA 0.51198 0.901863 NA 0.609 NA 2.45592 1414 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 1415 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 1415 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 1415 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 1415 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 1415 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 1415 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 1415 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 1415 11 60561613 60561613 C T intronic MS4A10 NA NA NA intronic ENSG00000172689 NA NA NA NA NA 11q12.2 NA NA NA NA rs751026 0.55 0.55 0.523 0.57488 0.499 0.8522 0.5101 0.2935 0.7935 0.51 0.86 0.51 0.3 0.5441 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 -0.125109 NA NA 0.504303 0.32887 NA 0.471 NA 2.452597 1415 16 10574829 10574829 A T intronic ATF7IP2 NA NA NA intronic ENSG00000166669 NA NA NA NA NA 16p13.13 NA NA NA NA rs12596111 0.49 0.49 0.477 0.458466 0.5199 0.5724 0.5202 0.2965 0.453 0.55 0.56 0.48 0.34 0.505 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.398705 NA NA 0.522558 0.332954 NA 0.623 NA 2.452542 1415 5 61697859 61697859 C T intronic DIMT1 NA NA NA intronic ENSG00000086189 NA NA NA NA NA 5q12.1 NA NA NA NA rs27089 0.58 0.58 0.582 0.551917 0.5129 0.6766 0.5043 0.5719 0.4703 0.52 0.7 0.52 0.56 0.5274 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 1.620233 1.620233 NA 0.507209 0.566273 NA 0.514 NA 2.452491 1415 21 47409503 47409503 A G intronic COL6A1 NA NA NA intronic ENSG00000142156 NA NA NA NA NA 21q22.3 NA NA NA NA rs2277814 0.87 0.87 0.837 0.876797 0.838 0.9306 0.8761 0.8858 0.8497 0.83 0.93 0.85 0.88 0.8618 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 -1.173421 NA NA 0.848069 0.891966 NA 0.891 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079830.1;CLNDSDB=.;CLNDSDBID=. 2.452131 1415 7 151168534 151168534 G A intronic RHEB NA NA NA intronic ENSG00000106615 NA NA NA NA NA 7q36.1 NA NA NA NA rs6956899 0.51 0.51 0.477 0.540335 0.5358 0.4425 0.4683 0.5946 0.6237 0.52 0.44 0.48 0.57 0.5078 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.536089 NA NA 0.505819 0.568832 NA 0.493 NA 2.450581 1415 19 6679511 6679511 C T intronic C3 NA NA NA intronic ENSG00000125730 NA NA NA NA NA 19p13.3 NA NA NA NA rs2277984 0.49 0.49 0.475 0.524361 0.5109 0.5466 0.5043 0.4622 0.6135 0.52 0.5 0.49 0.41 0.5215 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.250104 NA NA 0.517442 0.454607 NA 0.435 NA 2.450158 1415 15 33840414 33840414 A G intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA Name=NRSF NA NA rs1435100 0.8 0.8 0.823 0.796326 0.8588 0.5357 0.866 0.9924 0.6861 0.86 0.52 0.87 0.99 0.8261 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 1.945276 1.945276 NA 0.864944 0.971061 NA 0.855 NA 2.450156 1415 22 45579422 45579422 A G intronic NUP50 NA NA NA intronic ENSG00000093000 NA NA NA NA NA 22q13.31 NA NA NA NA rs6006950 0.45 0.45 0.438 0.450479 0.5348 0.2996 0.5159 0.4501 0.4734 0.53 0.32 0.53 0.42 0.484 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.027714 NA NA 0.531047 0.465275 NA 0.355 NA 2.450153 1415 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 1415 3 108135799 108135799 C G intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA NA NA 3q13.13 NA NA NA NA rs11927603 0.63 0.63 0.591 0.640775 0.492 0.7887 0.6095 0.6445 0.6585 0.49 0.83 0.61 0.63 0.5641 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 -0.040281 NA NA 0.494004 0.619967 NA 0.543 NA 2.449896 1415 16 81194382 81194382 T C exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN NA NA 16q23.2 NA NA NA NA rs2317117 0.69 0.69 0.678 0.662939 0.8459 0.625 0.7017 0.4705 0.7464 0.89 0.63 0.73 0.45 0.7889 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 -1.370564 NA NA 0.915468 0.559294 NA 0.667 NA 2.449732 1415 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 1415 11 118920453 118920453 T C intronic HYOU1 NA NA NA intronic ENSG00000149428 NA NA NA NA NA 11q23.3 NA NA Name=4 NA rs673768 0.88 0.88 0.898 0.896366 0.8479 0.9454 0.6772 0.9841 0.9325 0.83 0.95 0.73 0.97 0.8457 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 -0.594435 NA NA 0.857858 0.958409 NA 0.942 NA 2.448542 1415 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 1415 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 1415 7 33282577 33282577 G A intronic BBS9 NA NA NA intronic ENSG00000122507 NA NA NA NA NA 7p14.3 NA NA NA NA rs7793096 0.48 0.48 0.423 0.455471 0.5368 0.4732 0.5749 0.3797 0.3712 0.53 0.46 0.58 0.35 0.5043 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11598 NA NA 0.511803 0.413813 NA 0.486 NA 2.447097 1415 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 1415 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 1415 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 1415 6 117686943 117686943 A T intronic ROS1 NA NA NA intronic ENSG00000047936 NA NA NA NA NA 6q22.1 NA NA NA NA rs2243383 0.59 0.59 0.549 0.609225 0.501 0.5863 0.6037 0.7141 0.6063 0.51 0.6 0.58 0.71 0.5679 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.539126 NA NA 0.485034 0.691794 NA 0.572 NA 2.446066 1415 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 1416 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 1416 5 112884197 112884197 C G intronic YTHDC2 NA NA NA intronic ENSG00000047188 NA NA NA NA NA 5q22.2 NA NA NA NA rs4444963 0.58 0.58 0.593 0.57508 0.503 0.3244 0.5922 0.9667 0.3661 0.52 0.33 0.56 0.96 0.5386 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 -0.3441 NA NA 0.51397 0.903601 NA 0.667 NA 2.44443 1416 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 1416 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 1416 15 44053617 44053617 C T intronic PDIA3 NA NA NA intronic ENSG00000167004 NA NA NA NA NA 15q15.3 NA NA NA NA rs8040336 0.39 0.39 0.335 0.383786 0.5338 0.4335 0.5793 0.0333 0.5133 0.53 0.43 0.54 0.05 0.4949 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.887085 NA NA 0.527345 0.134213 NA 0.341 NA 2.443955 1416 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 1416 21 47404397 47404397 A G intronic COL6A1 NA NA NA intronic ENSG00000142156 NA NA NA NA NA 21q22.3 NA NA NA NA rs3746993 0.87 0.87 0.855 0.880391 0.8429 0.9276 0.879 0.8903 0.8579 0.84 0.92 0.85 0.88 0.8644 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 0.128571 NA NA 0.848894 0.891087 NA 0.739 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000079811.1;CLNDSDB=.;CLNDSDBID=. 2.443806 1416 16 1260767 1260767 G A intronic CACNA1H NA NA NA intronic ENSG00000196557 NA NA NA NA NA 16p13.3 NA NA NA NA rs2738897 0.64 0.64 0.603 0.613618 0.5199 0.8651 0.6311 0.5779 0.4867 0.51 0.9 0.59 0.56 0.5537 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 -1.362245 NA NA 0.482808 0.594433 NA 0.065 NA 2.443592 1416 1 6204266 6204266 A G intronic CHD5 NA NA NA intronic ENSG00000116254 NA NA NA NA NA 1p36.31 NA NA NA NA rs9435102 0.67 0.67 0.679 0.710663 0.4891 0.8413 0.5476 0.8245 0.7658 0.48 0.84 0.55 0.83 0.5871 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 -0.014137 NA NA 0.480814 0.760554 NA 0.688 NA 2.442986 1416 6 152690559 152690559 G A intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs1873176 0.42 0.42 0.406 0.410942 0.5298 0.4593 0.5101 0.2337 0.408 0.52 0.41 0.48 0.24 0.4818 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.137607 NA NA 0.545465 0.301407 NA 0.486 NA 2.442935 1416 22 31497054 31497054 A C intronic SMTN NA NA NA intronic ENSG00000183963 NA NA NA NA NA 22q12.2 Score=869;Name=V$SPZ1_01 NA NA NA rs5753459 0.91 0.91 0.932 0.9373 0.8569 1 0.9179 0.944 0.9601 0.85 0.99 0.9 0.93 0.871 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 1.20705 NA NA 0.8293 0.931466 NA 0.797 NA 2.4428 1416 22 45779335 45779335 A G intronic SMC1B NA NA NA intronic ENSG00000077935 NA NA NA NA NA 22q13.31 NA NA NA NA rs136585 0.65 0.65 0.659 0.710863 0.506 0.7014 0.5331 0.9546 0.728 0.49 0.66 0.57 0.94 0.5726 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 -0.029376 NA NA 0.479079 0.88615 NA 0.804 NA 2.442321 1416 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 1416 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 1416 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 1416 5 78742980 78742980 G A intronic HOMER1 NA NA NA intronic ENSG00000152413 NA NA NA NA NA 5q14.1 NA NA NA NA rs6862358 0.76 0.76 0.76 0.807109 0.4811 0.9911 0.7363 0.9735 0.7781 0.48 1 0.69 0.97 0.6159 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.184636 3.184636 NA 0.461217 0.888614 NA 0.616 NA 2.441783 1416 6 101253788 101253788 A T intronic ASCC3 NA NA NA intronic ENSG00000112249 NA NA NA NA NA 6q16.3 NA NA NA NA rs4839792 0.6 0.6 0.608 0.647963 0.4871 0.7411 0.5317 0.6634 0.7791 0.47 0.72 0.56 0.69 0.5711 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.772016 NA NA 0.500234 0.637534 NA 0.572 NA 2.441566 1416 11 65147294 65147294 G A intronic SLC25A45 NA NA NA intronic ENSG00000162241 NA NA NA NA NA 11q13.1 NA NA NA NA rs547221 0.34 0.34 0.296 0.295128 0.5517 0.2738 0.2853 0.0643 0.3722 0.55 0.27 0.32 0.1 0.4573 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.47818 3.47818 NA 0.549722 0.141714 NA 0.37 NA 2.441278 1416 6 143754938 143754938 G A intronic ADAT2 NA NA NA intronic ENSG00000189007 NA NA NA NA NA 6q24.2 NA NA NA NA rs3761999 0.48 0.48 0.436 0.446086 0.5368 0.1825 0.5793 0.5749 0.3558 0.56 0.21 0.57 0.6 0.5052 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.3425 NA NA 0.516925 0.568271 NA 0.514 NA 2.441075 1416 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 1416 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 1416 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 1416 3 183995854 183995854 G A intronic ECE2 NA NA NA intronic ENSG00000145191,ENSG00000145194 NA NA NA NA NA 3q27.1 NA NA NA NA rs2272471 0.51 0.51 0.531 0.482827 0.5298 0.4157 0.6037 0.5242 0.362 0.53 0.48 0.56 0.5 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 -0.130737 NA NA 0.523721 0.556514 NA 0.5 NA 2.440579 1416 13 43463299 43463299 T C intronic EPSTI1 NA NA NA intronic ENSG00000133106 NA NA NA NA NA 13q14.11 NA NA NA NA rs1323864 0.63 0.63 0.612 0.677516 0.4841 0.8065 0.6585 0.6604 0.7802 0.49 0.83 0.62 0.65 0.5803 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 0.686753 NA NA 0.495349 0.620744 NA 0.659 NA 2.440251 1416 16 71718366 71718366 C T intronic PHLPP2 NA NA NA intronic ENSG00000040199 NA NA NA NA NA 16q22.2 NA NA Name=2 NA rs7195059 0.88 0.88 0.873 0.908546 0.841 0.9911 0.9179 0.8396 0.9796 0.83 0.99 0.92 0.81 0.8799 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 -0.102635 NA NA 0.838953 0.842129 NA 0.841 NA 2.440147 1416 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 1416 6 33272712 33272712 C A intronic TAPBP NA NA NA intronic ENSG00000231925 NA NA NA NA NA 6p21.32 NA NA NA NA rs2071889 0.47 0.47 0.447 0.48722 0.5099 0.3829 0.5331 0.4266 0.6207 0.5 0.39 0.59 0.43 0.5245 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.848463 NA NA 0.526628 0.465048 NA 0.5 NA 2.438972 1416 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 1416 7 14775824 14775824 A C intronic DGKB NA NA NA intronic ENSG00000136267 NA NA NA NA NA 7p21.2 NA NA NA NA rs80024169 NA NA NA 0.558307 0.831 0.5655 0.5432 0.239 0.7127 NA NA NA NA 0.7303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.874912 2.874912 NA NA NA NA NA NA 2.4387 1416 19 18245807 18245807 C T intronic MAST3 NA NA NA intronic ENSG00000099308 NA NA NA NA NA 19p13.11 NA NA NA NA rs12983325 0.51 0.51 0.498 0.530751 0.503 0.6716 0.5245 0.3222 0.7004 0.49 0.69 0.51 0.32 0.5364 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 0.011003 NA NA 0.522291 0.341601 NA 0.5 NA 2.438309 1416 3 78796078 78796078 C A intronic ROBO1 NA NA NA intronic ENSG00000169855 NA NA NA NA NA 3p12.3 NA NA NA NA rs2304503 0.41 0.41 0.391 0.419728 0.5249 0.25 0.5231 0.3215 0.546 0.53 0.25 0.54 0.32 0.5102 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.321015 NA NA 0.527113 0.338988 NA 0.514 NA 2.437787 1416 9 133346920 133346920 A G intronic ASS1 NA NA NA intronic ENSG00000130707 NA NA NA NA NA 9q34.11 NA NA NA NA rs652313 0.82 0.82 0.799 0.792332 0.8459 0.9603 0.8646 0.5484 0.8425 0.85 0.96 0.86 0.59 0.85 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 -2.429218 NA NA 0.866512 0.567181 NA 0.667 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078022.1;CLNDSDB=.;CLNDSDBID=. 2.437588 1416 1 209804095 209804095 G A intronic LAMB3 NA NA NA intronic ENSG00000196878 NA NA NA NA NA 1q32.2 NA Name=Pol2(b) NA NA rs4844863 0.85 0.85 0.849 0.823283 0.8668 0.8234 0.7752 0.8275 0.8067 0.87 0.84 0.85 0.81 0.8472 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 -0.193744 NA NA 0.848488 0.825238 NA 0.819 NA 2.437512 1416 17 18003845 18003845 C T intronic DRG2 NA NA NA intronic ENSG00000108591 NA NA NA NA NA 17p11.2 NA NA NA NA rs854813 0.31 0.31 0.295 0.259784 0.5358 0.0645 0.3905 0.1785 0.1943 0.55 0.04 0.42 0.16 0.4381 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.403557 NA NA 0.588605 0.228098 NA 0.391 NA 2.437495 1416 16 57503213 57503213 C T intronic POLR2C NA NA NA intronic ENSG00000102978 NA NA NA NA NA 16q21 NA NA NA NA rs601194 0.47 0.47 0.463 0.447284 0.5209 0.4802 0.4539 0.4145 0.3773 0.52 0.44 0.47 0.43 0.4923 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.301683 1.301683 NA 0.551047 0.413103 NA 0.384 NA 2.435753 1416 1 100357141 100357141 T A intronic AGL NA NA NA intronic ENSG00000162688 NA NA NA NA NA 1p21.2 NA NA NA NA rs2035961 0.53 0.53 0.503 0.534345 0.5089 0.6796 0.5879 0.3616 0.6063 0.51 0.68 0.59 0.37 0.5331 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.230786 NA NA 0.522326 0.384476 NA 0.536 NA 2.435674 1416 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 1417 X 55247030 55247030 C G UTR5 PAGE5 NM_130467:c.-3C>G NA NA UTR5 ENSG00000158639 ENST00000289619:c.-3C>G NA NA NA NA Xp11.21 NA NA NA NA rs5914273 0.87 0.87 0.84261 NA NA NA NA NA NA 0.97 1 0.93 0.51 0.9308 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.265255 NA NA 0.968025 0.560167 NA 0.594 NA 2.4345084 1417 10 28233933 28233933 A G intronic ARMC4 NA NA NA intronic ENSG00000169126 NA NA NA NA NA 10p12.1 NA NA NA NA rs34084011 0.56 0.56 0.542 0.558706 0.5547 0.505 0.5821 0.5469 0.6176 0.55 0.51 0.56 0.62 0.5454 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.464187 NA NA 0.465465 0.486382 NA 0.123 NA 2.434435 1417 1 201383643 201383643 A C intronic TNNI1 NA NA NA intronic ENSG00000159173 NA NA NA Score=419;Name=lod=67 NA 1q32.1 NA NA NA NA rs2026594 0.8 0.8 0.805 0.778155 0.8618 0.7222 0.853 0.7277 0.7648 0.87 0.75 0.84 0.74 0.8501 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 1.484683 1.484683 NA 0.853715 0.757039 NA 0.732 NA 2.434385 1417 9 71668197 71668197 T C intronic FXN NA NA NA intronic ENSG00000165060 NA NA NA NA NA 9q21.11 NA NA NA NA rs3829062 0.5 0.5 0.471 0.501597 0.5338 0.5645 0.5476 0.3964 0.5133 0.52 0.57 0.53 0.39 0.5181 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.168229 NA NA 0.514884 0.389015 NA 0.348 NA 2.433216 1417 6 33258443 33258443 G A intronic PFDN6 NA NA NA intronic ENSG00000204220 NA NA NA NA NA 6p21.32 NA NA NA NA rs456261 0.5 0.5 0.487 0.507388 0.5119 0.3839 0.5331 0.5219 0.592 0.51 0.37 0.59 0.58 0.5255 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.550994 NA NA 0.529439 0.542727 NA 0.536 NA 2.433161 1417 11 70007484 70007484 C G intronic ANO1 NA NA NA intronic ENSG00000131620 NA NA NA NA NA 11q13.3 NA NA NA NA rs2276068 0.51 0.51 0.517 0.502995 0.5149 0.7083 0.4914 0.323 0.5307 0.52 0.72 0.46 0.3 0.5369 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.329745 NA NA 0.515273 0.338717 NA 0.493 NA 2.432927 1417 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 1417 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 1417 17 53158361 53158361 G A intronic STXBP4 NA NA NA intronic ENSG00000166263 NA NA NA NA NA 17q22 NA NA NA NA rs2628302 0.47 0.47 0.473 0.492212 0.5368 0.3879 0.3761 0.5197 0.5992 0.54 0.35 0.43 0.53 0.5086 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.883849 NA NA 0.521977 0.525193 NA 0.594 NA 2.432623 1417 3 10242243 10242243 G A intronic IRAK2 NA NA NA intronic ENSG00000134070 NA NA NA NA NA 3p25.3 NA NA NA NA rs263411 0.5 0.5 0.493 0.505192 0.5408 0.2669 0.5865 0.618 0.5041 0.53 0.31 0.59 0.6 0.5044 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.018733 NA NA 0.522812 0.609717 NA 0.645 NA 2.431988 1417 2 46987300 46987300 T G UTR3 SOCS5 NM_014011:c.*20T>G,NM_144949:c.*20T>G NA NA UTR3 ENSG00000171150 ENST00000306503:c.*20T>G,ENST00000394861:c.*20T>G NA NA NA NA 2p21 NA NA NA NA rs3768720 0.68 0.68 0.663 0.714457 0.5954 0.5516 0.804 0.8956 0.6963 0.59 0.52 0.79 0.89 0.6674 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 -0.450807 NA NA 0.638714 0.864982 NA 0.601 NA 2.4318194 1417 19 48949766 48949766 C G intronic GRWD1 NA NA NA intronic ENSG00000105447 NA NA NA NA NA 19q13.33 NA Name=SMC3_(ab9263),Sin3Ak-20,Pol2-4H8,ETS1,Pol2,CTCF NA NA rs929743 0.69 0.69 0.657 0.663538 0.8718 0.5585 0.8098 0.4297 0.7699 0.86 0.6 0.79 0.45 0.8042 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 0.489461 NA NA 0.892326 0.496823 ID=COSM148681;OCCURENCE=1(stomach) 0.717 NA 2.431674 1417 17 14005386 14005386 T C intronic COX10 NA NA NA intronic ENSG00000006695 NA NA NA NA NA 17p12 NA NA Name=19 NA rs2108683 0.83 0.83 0.818 0.809105 0.8598 0.8046 0.8444 0.7693 0.7904 0.85 0.81 0.86 0.77 0.84 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 0.687009 NA NA 0.868953 0.81094 NA 0.826 NA 2.431247 1417 11 4104087 4104087 T C intronic STIM1 NA NA NA intronic ENSG00000167323 NA NA NA Score=675;Name=lod=737 NA 11p15.4 NA NA NA NA rs10767828 0.68 0.68 0.634 0.663738 0.8807 0.7758 0.7651 0.1838 0.9018 0.88 0.79 0.78 0.16 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 -0.241298 NA NA 0.880293 0.278283 NA 0.616 NA 2.430707 1417 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 1417 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 1417 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 1417 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 1417 15 101440988 101440988 A C intronic ALDH1A3 NA NA NA ncRNA_intronic ENSG00000259583 NA NA NA NA NA 15q26.3 NA NA NA NA rs4646674 0.67 0.67 0.666 0.689696 0.6312 0.7173 0.536 0.7443 0.7566 0.63 0.69 0.58 0.76 0.6528 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 -0.184721 NA NA 0.622442 0.716296 NA 0.717 NA 2.4268913 1417 12 85531790 85531790 A G intronic LRRIQ1 NA NA NA intronic ENSG00000133640 NA NA NA NA NA 12q21.31 NA NA NA NA rs168615 0.59 0.59 0.616 0.597444 0.5308 0.4514 0.5591 0.9327 0.3906 0.51 0.41 0.54 0.92 0.5179 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 -0.434159 NA NA 0.52449 0.855587 NA 0.667 NA 2.42681 1418 16 784920 784920 A G intronic NARFL NA NA NA intronic ENSG00000103245 NA NA NA NA NA 16p13.3 NA NA NA NA rs9932304 0.65 0.65 0.64 0.704872 0.5 0.8056 0.6282 0.711 0.8579 0.51 0.82 0.59 0.72 0.5979 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 -0.551144 NA NA 0.478008 0.670921 NA 0.522 NA 2.424092 1418 17 7733833 7733833 A G intronic DNAH2 NA NA NA intronic ENSG00000183914 NA NA NA NA NA 17p13.1 NA NA NA NA rs34121753 0.3 0.3 0.296 0.225839 0.5924 0.002 0.2853 0.1384 0.1554 0.6 0.0017 0.35 0.14 0.4048 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.153405 NA NA 0.578837 0.205402 NA 0.37 NA 2.423963 1418 6 152629586 152629586 G A intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs9371581 0.51 0.51 0.518 0.457468 0.5517 0.6488 0.3963 0.3238 0.3875 0.57 0.64 0.43 0.33 0.5001 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.128996 NA NA 0.524651 0.338402 NA 0.493 NA 2.423549 1418 11 46889713 46889713 T C ncRNA_intronic LRP4-AS1 NA NA NA ncRNA_intronic ENSG00000247675 NA NA NA NA NA 11p11.2 NA NA NA NA rs2306026 0.58 0.58 0.566 0.579673 0.7863 0.3889 0.6484 0.3979 0.7607 0.77 0.42 0.63 0.43 0.6862 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 0.450601 NA NA 0.771691 0.442072 NA 0.667 NA 2.4224756 1418 18 60027149 60027149 T A intronic TNFRSF11A NA NA NA intronic ENSG00000141655 NA NA NA NA NA 18q21.33 NA NA NA NA rs6567271 0.61 0.61 0.607 0.594449 0.5298 0.6835 0.6484 0.6747 0.4223 0.51 0.64 0.63 0.69 0.5369 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 0.580219 NA NA 0.51186 0.632093 NA 0.681 NA 2.42144 1418 3 9803126 9803126 A G intronic CAMK1,OGG1 NA NA NA intronic ENSG00000114026,ENSG00000134072 NA NA NA NA NA 3p25.3 NA NA NA NA rs17252807 0.35 0.35 0.343 0.315695 0.6034 0.1627 0.3256 0.1815 0.3517 0.6 0.16 0.36 0.18 0.4436 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.327275 NA NA 0.531977 0.228098 NA 0.42 NA 2.421023 1418 18 60027171 60027171 C T intronic TNFRSF11A NA NA NA intronic ENSG00000141655 NA NA NA NA NA 18q21.33 NA NA NA NA rs6567272 0.61 0.61 0.613 0.594249 0.5298 0.6835 0.647 0.6747 0.4223 0.51 0.64 0.63 0.69 0.5371 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 0.153535 NA NA 0.512093 0.632093 NA 0.681 NA 2.421007 1418 1 229783240 229783240 T C intronic URB2 NA NA NA intronic ENSG00000135763 NA NA NA NA NA 1q42.13 NA NA NA NA rs2274995 0.59 0.59 0.577 0.561502 0.5179 0.7639 0.5418 0.4433 0.5716 0.51 0.81 0.56 0.46 0.5488 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 -1.104701 NA NA 0.512442 0.470949 NA 0.514 NA 2.420858 1418 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 1418 11 63064970 63064970 T G ncRNA_intronic MIR3680-1,MIR3680-2 NA NA NA intronic ENSG00000184999 NA NA NA NA NA 11q12.3 NA NA NA NA rs575009 0.62 0.62 0.605 0.597644 0.6332 0.4692 0.5865 0.7678 0.4714 0.66 0.42 0.66 0.78 0.6166 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 -0.909122 NA NA 0.663158 0.739475 NA 0.616 NA 2.4203753 1418 22 32791003 32791003 A C intronic C22orf28 NA NA NA intronic ENSG00000100220 NA NA NA NA NA 22q12.3 NA NA NA NA rs2072818 0.55 0.55 0.601 0.624002 0.4861 0.5556 0.5764 0.8714 0.5358 0.46 0.5 0.52 0.77 0.5626 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 -0.054194 NA NA 0.531047 0.848842 NA 0.667 NA 2.420253 1418 13 50035208 50035208 G A intronic SETDB2 NA NA NA intronic ENSG00000136169 NA NA NA NA NA 13q14.2 NA NA NA NA rs2077848 0.52 0.52 0.511 0.469249 0.5268 0.4792 0.4957 0.4894 0.3538 0.54 0.5 0.49 0.52 0.5062 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.735858 NA NA 0.54702 0.508856 NA 0.42 NA 2.41998 1418 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 1418 10 119026566 119026566 T C intronic SLC18A2 NA NA NA intronic ENSG00000165646 NA NA NA NA NA 10q25.3 NA Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194) NA NA rs363227 0.75 0.75 0.731 0.723642 0.8797 0.5972 0.7795 0.6589 0.7413 0.88 0.62 0.79 0.67 0.8198 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 0.352765 NA NA 0.881628 0.702224 NA 0.826 NA 2.418872 1418 20 40714524 40714524 C G intronic PTPRT NA NA NA intronic ENSG00000196090 NA NA NA NA NA 20q12 NA NA NA NA rs722898 0.43 0.43 0.433 0.388379 0.5477 0.2778 0.4539 0.3782 0.3057 0.53 0.29 0.52 0.4 0.4728 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624302 NA NA 0.560661 0.417553 NA 0.362 NA 2.418839 1418 16 10788129 10788129 G T intronic TEKT5 NA NA NA intronic ENSG00000153060 NA NA NA NA NA 16p13.13 NA NA NA NA rs2251985 0.58 0.58 0.563 0.590455 0.503 0.6121 0.6326 0.6702 0.5204 0.52 0.62 0.57 0.64 0.5576 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 -0.938202 NA NA 0.520814 0.686618 NA 0.717 NA 2.418586 1418 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 1418 2 240066417 240066417 A G intronic HDAC4 NA NA NA intronic ENSG00000068024 NA NA NA NA NA 2q37.3 NA Name=FOXA1_(SC-101058) NA NA rs2290087 0.86 0.86 0.881 0.88778 0.8608 0.8482 0.7133 0.9818 0.953 0.86 0.84 0.75 0.97 0.8616 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 -0.310671 NA NA 0.859651 0.963232 NA 0.92 NA 2.417949 1418 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 1418 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 1418 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 1418 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 1418 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 1418 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 1418 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 1419 1 32131163 32131163 C G intronic COL16A1 NA NA NA intronic ENSG00000084636 NA NA NA NA NA 1p35.2 NA NA NA NA rs1356803 0.34 0.34 0.302 0.347444 0.5577 0.2262 0.464 0.0741 0.5429 0.54 0.23 0.47 0.07 0.4862 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.508334 NA NA 0.541205 0.148111 NA 0.399 NA 2.414895 1419 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 1419 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 1419 1 168549422 168549422 C T intronic XCL1 NA NA NA intronic ENSG00000143184 NA NA NA NA NA 1q24.2 NA NA NA NA rs6427130 0.44 0.44 0.424 0.424321 0.5706 0.1935 0.3847 0.5393 0.3845 0.55 0.2 0.43 0.53 0.4699 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.095304 NA NA 0.546047 0.521335 NA 0.478 NA 2.413453 1419 19 46857286 46857286 G A intronic PPP5C NA NA NA intronic ENSG00000011485 NA NA NA NA NA 19q13.32 NA NA NA NA rs2075144 0.52 0.52 0.537 0.569688 0.496 0.5873 0.4553 0.5333 0.7577 0.49 0.57 0.44 0.55 0.5486 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.04382 NA NA 0.542298 0.528903 NA 0.572 NA 2.413102 1419 X 153038661 153038661 G C intronic PLXNB3 NA NA NA intronic ENSG00000198753 NA NA NA NA NA Xq28 NA NA NA NA rs2266885 0.82 0.82 0.83148 NA NA NA NA NA NA 0.8 0.76 0.83 0.9 0.8034 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 0.622835 NA NA 0.783929 0.867678 NA 0.667 NA 2.412671 1419 19 54611560 54611560 C G intronic TFPT NA NA NA intronic ENSG00000105619,ENSG00000170906 NA NA NA NA NA 19q13.42 NA NA NA NA rs254263 0.46 0.46 0.47 0.459465 0.5209 0.4385 0.3862 0.4697 0.456 0.52 0.44 0.4 0.46 0.5308 0.54 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092511 NA NA 0.535848 0.472121 NA 0.42 NA 2.412452 1419 19 49458262 49458262 C T intronic BAX NA NA NA intronic ENSG00000087088 NA NA NA NA NA 19q13.33 NA Name=Pol2,Pol2(phosphoS2),Pbx3,Pol2-4H8,TAF1,ZBTB7A_(SC-34508) NA NA rs4645881 0.78 0.78 0.784 0.770767 0.8519 0.8383 0.8184 0.5643 0.863 0.86 0.85 0.79 0.58 0.8417 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 -0.299179 NA NA 0.894083 0.736395 NA 0.725 NA 2.412317 1419 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 1419 18 19408950 19408950 C T intronic MIB1 NA NA NA ncRNA_exonic ENSG00000265142 NA NA NA Score=671;Name=lod=710 NA 18q11.2 NA NA NA NA rs9989532 0.94 0.94 0.928 0.940296 0.9801 0.9425 0.9798 0.8548 0.9847 0.98 0.94 0.98 0.87 0.9617 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 -0.079139 NA NA 0.979966 0.887802 NA 0.964 NA 2.4115673 1419 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 1419 6 32713888 32713888 T C intronic HLA-DQA2 NA NA NA intronic ENSG00000237541 NA NA NA NA NA 6p21.32 NA NA NA NA rs17213337 0.56 0.56 0.558 0.57528 0.5318 0.8026 0.5692 0.3722 0.6646 0.53 0.78 0.55 0.38 0.5633 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 0.00855 NA NA 0.494092 0.396757 NA 0.514 NA 2.410808 1419 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 1419 4 16037352 16037352 C T intronic PROM1 NA NA NA intronic ENSG00000007062 NA NA NA NA NA 4p15.32 NA NA NA NA rs2078622 0.33 0.33 0.31 0.296126 0.5765 0.1756 0.3415 0.0635 0.4141 0.57 0.19 0.41 0.07 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 1.089887 NA NA 0.560916 0.125399 NA 0.384 NA 2.410784 1419 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 1419 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,c-Myc,Sin3Ak-20,Egr-1,Pol2,USF1_(SC-8983),E2F6_(H-50),E2F6,TAF1,ZEB1_(SC-25388),Pol2-4H8,HEY1 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 1419 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 1419 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 1419 14 24795115 24795115 G T intronic ADCY4 NA NA NA intronic ENSG00000129467 NA NA NA NA NA 14q12 NA NA NA NA rs11622527 0.34 0.34 0.31 0.280152 0.5606 0.1786 0.3919 0.0779 0.2904 0.56 0.21 0.4 0.09 0.4522 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.356134 NA NA 0.578023 0.15327 NA 0.384 NA 2.409177 1419 5 96244638 96244638 A G intronic ERAP2 NA NA NA intronic ENSG00000164308 NA NA NA NA NA 5q15 NA NA NA NA rs2549795 0.55 0.55 0.511 0.553315 0.5199 0.5278 0.5807 0.6021 0.5286 0.52 0.58 0.59 0.55 0.5494 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.844084 NA NA 0.521628 0.578983 NA 0.659 NA 2.409072 1419 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 1419 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 1419 1 113246229 113246229 T A intronic RHOC NA NA NA intronic ENSG00000155366,ENSG00000271810 NA NA NA NA NA 1p13.2 NA NA NA NA rs937053 0.43 0.43 0.448 0.473043 0.5457 0.3026 0.4193 0.4349 0.6636 0.53 0.26 0.45 0.45 0.4978 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152218 NA NA 0.548023 0.480481 NA 0.478 NA 2.408477 1419 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 1419 22 26862153 26862153 C A intronic HPS4 NA NA NA UTR3 ENSG00000100099 ENST00000464362:c.*402G>T NA NA NA NA 22q12.1 NA NA NA NA rs739289 0.81 0.81 NA 0.790735 0.9105 0.8026 0.7233 0.6611 0.8783 0.92 0.78 0.73 0.71 0.8487 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 -0.123096 NA NA NA NA NA 0.804 NA 2.4074667 1419 10 5784509 5784509 G A intronic FAM208B NA NA NA ncRNA_intronic ENSG00000226647 NA NA NA NA NA 10p15.1 NA NA NA NA rs2797488 0.67 0.67 0.68 0.696286 0.6501 0.6637 0.6427 0.8147 0.6554 0.65 0.63 0.61 0.81 0.6512 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 -1.036821 NA NA 0.6246 0.791435 NA 0.645 NA 2.4074333 1419 19 56160399 56160399 T C UTR5 CCDC106 NM_013301:c.-14T>C NA NA UTR5 ENSG00000173581 ENST00000592996:c.-14T>C,ENST00000593069:c.-14T>C,ENST00000308964:c.-14T>C,ENST00000587213:c.-14T>C,ENST00000586790:c.-14T>C,ENST00000588740:c.-14T>C,ENST00000591578:c.-14T>C,ENST00000591241:c.-14T>C NA NA NA NA 19q13.42 NA Name=ZBTB7A_(SC-34508) NA NA rs7246799 0.99 0.99 0.991 0.988219 0.9712 0.9921 0.9957 0.9977 0.9836 0.98 0.99 0.99 1 0.9812 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.520946 NA NA 0.975 0.995234 NA 0.942 NA 2.4059334 1420 6 51891011 51891011 T C intronic PKHD1 NA NA NA intronic ENSG00000170927 NA NA NA NA NA 6p12.2 NA NA NA NA rs2499480 0.44 0.44 0.389 0.411941 0.5278 0.3879 0.6138 0.2262 0.4254 0.54 0.37 0.62 0.24 0.5156 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.026301 NA NA 0.551652 0.26317 NA 0.5 NA 2.404948 1420 17 60779025 60779025 A G UTR3 MARCH10 NM_001100875:c.*39T>C,NM_152598:c.*39T>C NA NA exonic ENSG00000173838 NA nonsynonymous SNV ENSG00000173838:ENST00000580520:exon6:c.T2027C:p.L676P NA NA 17q23.2 NA NA NA NA rs2251391 0.95 0.95 0.945 0.955072 0.9801 0.9018 0.9712 0.9758 0.9448 0.98 0.89 0.97 0.97 0.9703 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 0.67377 NA NA 0.97814 0.971857 NA 0.964 NA 2.4047934 1420 10 104232716 104232716 G A intronic TMEM180 NA NA NA intronic ENSG00000138111 NA NA NA NA NA 10q24.32 NA NA NA NA rs3740415 0.42 0.42 0.412 0.410543 0.5636 0.3075 0.3674 0.3707 0.4438 0.56 0.28 0.41 0.37 0.4784 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.514867 NA NA 0.553372 0.379936 NA 0.464 NA 2.404628 1420 3 46001063 46001063 G A intronic FYCO1 NA NA NA intronic ENSG00000163820 NA NA NA NA NA 3p21.31 NA NA NA NA rs1532071 0.52 0.52 0.479 0.533946 0.5288 0.6518 0.6138 0.2595 0.7321 0.55 0.63 0.58 0.29 0.5527 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.019753 NA NA 0.513953 0.290513 NA 0.464 NA 2.404547 1420 18 743226 743226 A G intronic YES1 NA NA NA intronic ENSG00000176105 NA NA NA NA NA 18p11.32 NA NA NA NA rs3786347 0.61 0.61 0.618 0.617412 0.5239 0.7014 0.5893 0.6717 0.5736 0.52 0.7 0.54 0.7 0.5596 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 -0.938487 NA NA 0.512093 0.67113 NA 0.565 NA 2.404407 1420 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 1420 12 122439369 122439369 T C intronic WDR66 NA NA NA intronic ENSG00000158023 NA NA NA NA NA 12q24.31 NA Name=Pol2 NA NA rs1182927 0.87 0.87 0.88 0.867013 0.8698 0.8581 0.745 0.944 0.8558 0.88 0.83 0.79 0.93 0.8523 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 1.056417 NA NA 0.874217 0.93876 NA 0.841 NA 2.403683 1420 3 119128634 119128634 T C intronic ARHGAP31 NA NA NA intronic ENSG00000031081 NA NA NA NA NA 3q13.33 NA NA NA NA rs1463138 0.47 0.47 0.44 0.464856 0.5348 0.4474 0.5432 0.3396 0.5245 0.52 0.49 0.51 0.33 0.5507 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.337393 NA NA 0.510977 0.347445 NA 0.486 NA 2.403523 1420 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 1420 9 80409345 80409345 A G intronic GNAQ NA NA NA intronic ENSG00000156052 NA NA NA NA NA 9q21.2 NA NA NA NA rs1328529 0.33 0.33 0.321 0.302915 0.5358 0.2321 0.4121 0.0787 0.362 0.52 0.21 0.44 0.1 0.4786 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.612817 1.612817 NA 0.583023 0.159628 NA 0.428 NA 2.402577 1420 9 6533010 6533010 C G UTR3 GLDC NM_000170:c.*7G>C NA NA UTR3 ENSG00000178445 ENST00000321612:c.*7G>C NA NA NA NA 9p24.1 NA NA NA NA rs2228098 0.74 0.74 0.751 0.755192 0.6272 0.9563 0.7277 0.7474 0.7096 0.64 0.95 0.69 0.7 0.6859 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 -0.83107 NA NA 0.617674 0.718793 NA 0.819 NA 2.4025594 1420 1 31898132 31898132 T C intronic SERINC2 NA NA NA intronic ENSG00000168528 NA NA NA NA NA 1p35.2 NA NA NA NA rs4949400 0.36 0.36 0.315 0.316494 0.5596 0.1994 0.4481 0.1452 0.3252 0.55 0.21 0.47 0.15 0.4744 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.201321 NA NA 0.56407 0.228779 NA 0.326 NA 2.40193 1420 11 64525216 64525216 C T intronic PYGM NA NA NA intronic ENSG00000068976 NA NA NA NA Name=Urate levels 11q13.1 NA NA NA NA rs589691 0.64 0.64 0.612 0.61242 0.9066 0.6478 0.6326 0.1967 0.8211 0.91 0.6 0.7 0.23 0.7933 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 0.6764 NA NA 0.89865 0.318037 NA 0.565 NA 2.40145 1420 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 1420 18 743436 743436 T C intronic YES1 NA NA NA intronic ENSG00000176105 NA NA NA NA NA 18p11.32 NA NA NA NA rs3786348 0.61 0.61 0.623 0.617212 0.5229 0.7014 0.5893 0.6717 0.5736 0.51 0.7 0.54 0.7 0.5642 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 -1.8338 NA NA 0.512099 0.671811 NA 0.565 NA 2.400801 1420 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 1420 5 35753715 35753715 T C intronic SPEF2 NA NA NA ncRNA_intronic ENSG00000248969 NA NA NA NA NA 5p13.2 NA NA NA NA rs11957963 0.54 0.54 0.521 0.503594 0.673 0.6806 0.598 0.1823 0.5143 0.65 0.7 0.58 0.15 0.5934 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 0.367422 NA NA 0.666384 0.270855 NA 0.486 NA 2.4005493 1420 13 25399752 25399752 A G intronic RNF17 NA NA NA intronic ENSG00000132972 NA NA NA Score=378;Name=lod=46 NA 13q12.12 NA NA NA NA rs2121253 0.86 0.86 0.86 0.864816 0.8678 0.8383 0.8343 0.848 0.9335 0.86 0.85 0.86 0.84 0.8676 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 -0.820149 NA NA 0.864186 0.858246 NA 0.906 NA 2.400414 1420 1 38442547 38442547 G A intronic SF3A3 NA NA NA intronic ENSG00000183431 NA NA NA Score=552;Name=lod=234 NA 1p34.3 NA NA NA NA rs10890216 0.93 0.93 0.932 0.921526 0.8489 1 0.9121 0.9735 0.8517 0.86 1 0.9 0.97 0.8885 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.93299 3.93299 NA 0.862442 0.959128 NA 0.906 NA 2.400158 1420 2 103149182 103149182 A G UTR3 SLC9A4 NM_001011552:c.*35A>G NA NA UTR3 ENSG00000180251 ENST00000295269:c.*35A>G NA NA NA NA 2q12.1 NA NA NA NA rs2008157 0.65 0.65 0.627 0.622404 0.675 0.5308 0.6816 0.6657 0.5624 0.68 0.53 0.7 0.7 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 0.71965 NA NA 0.632209 0.640164 NA 0.754 NA 2.4001244 1420 17 76528831 76528831 G A intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA NA NA rs11077379 0.5 0.5 0.461 0.474241 0.5388 0.4702 0.4222 0.5023 0.411 0.55 0.47 0.46 0.46 0.5299 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.842024 NA NA 0.531589 0.497201 NA 0.457 NA 2.399711 1420 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 1420 20 60905717 60905717 T C intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA Name=Pol2 NA NA rs2095235 0.75 0.75 0.712 0.702077 0.8827 0.9365 0.7795 0.2844 0.7843 0.88 0.95 0.78 0.32 0.8251 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 -0.798691 NA NA 0.893375 0.418386 NA 0.623 NA 2.398825 1420 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 1420 1 38450367 38450367 A G intronic SF3A3 NA NA NA intronic ENSG00000183431 NA NA NA NA NA 1p34.3 NA Name=Pol2-4H8 NA NA rs6680796 0.93 0.93 0.932 0.923323 0.8489 1 0.9107 0.9766 0.8579 0.86 1 0.9 0.97 0.89 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.056425 NA NA 0.862674 0.963686 NA 0.913 NA 2.398426 1420 1 31898162 31898162 C T intronic SERINC2 NA NA NA intronic ENSG00000168528 NA NA NA NA NA 1p35.2 NA NA NA NA rs4949401 0.36 0.36 0.321 0.316693 0.5596 0.1994 0.4496 0.1452 0.3252 0.55 0.21 0.47 0.15 0.4748 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.296585 NA NA 0.567209 0.230368 NA 0.326 NA 2.398391 1420 3 157820423 157820423 C T intronic SHOX2 NA NA NA intronic ENSG00000168779 NA NA NA NA NA 3q25.32 NA Name=SUZ12 NA NA rs4462902 0.91 0.91 0.911 0.906949 0.8469 0.9931 0.9135 0.9312 0.8425 0.86 0.99 0.89 0.92 0.8902 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 1.732661 1.732661 NA 0.864535 0.913073 NA 0.949 NA 2.398365 1420 18 61465810 61465810 A G intronic SERPINB7 NA NA NA intronic ENSG00000166396 NA NA NA NA NA 18q21.33 NA NA NA NA rs1720858 0.61 0.61 0.611 0.653155 0.502 0.7183 0.6023 0.7557 0.6391 0.51 0.68 0.57 0.73 0.5836 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.373669 NA NA 0.516163 0.735815 NA 0.362 NA 2.398237 1420 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 1420 11 102711338 102711338 T C intronic MMP3 NA NA NA intronic ENSG00000149968 NA NA NA NA NA 11q22.2 NA NA NA NA rs591058 0.62 0.62 0.593 0.644768 0.5288 0.6677 0.6729 0.6445 0.7209 0.54 0.67 0.63 0.69 0.5737 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 -0.733689 NA NA 0.500814 0.621198 NA 0.551 NA 2.396686 1420 16 4414987 4414987 G A intronic CORO7,CORO7-PAM16 NA NA NA intronic ENSG00000103426,ENSG00000262246 NA NA NA NA NA 16p13.3 NA NA NA NA rs2277851 0.46 0.46 0.415 0.38758 0.5229 0.4365 0.5 0.2617 0.2883 0.53 0.5 0.51 0.26 0.5284 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.016538 NA NA 0.552515 0.297853 NA 0.413 NA 2.396185 1420 2 103149162 103149162 A G UTR3 SLC9A4 NM_001011552:c.*15A>G NA NA UTR3 ENSG00000180251 ENST00000295269:c.*15A>G NA NA NA NA 2q12.1 NA NA NA NA rs2008159 0.65 0.65 0.633 0.622005 0.675 0.5308 0.6801 0.6657 0.5613 0.68 0.53 0.7 0.7 0.6296 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.689016 NA NA 0.633721 0.639809 NA 0.754 NA 2.3950124 1421 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 1421 17 57889192 57889192 T G intronic VMP1 NA NA NA intronic ENSG00000062716 NA NA NA NA NA 17q23.1 NA NA NA NA rs2063353 0.39 0.39 0.347 0.358027 0.5676 0.3829 0.4654 0.0363 0.4755 0.57 0.37 0.5 0.04 0.4868 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.123529 NA NA 0.550698 0.127553 NA 0.304 NA 2.394902 1421 10 7618993 7618993 G A intronic ITIH5 NA NA NA intronic ENSG00000123243 NA NA NA NA NA 10p14 NA NA NA NA rs10458802 0.56 0.56 0.526 0.530351 0.5209 0.7669 0.5447 0.3631 0.5123 0.51 0.79 0.55 0.39 0.5465 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 -0.813272 NA NA 0.538023 0.407626 ID=COSN163544;OCCURENCE=1(breast) 0.594 NA 2.394577 1421 8 59515756 59515756 G A intronic NSMAF NA NA NA intronic ENSG00000035681 NA NA NA NA NA 8q12.1 NA NA NA NA rs2255834 0.46 0.46 0.429 0.450479 0.505 0.4276 0.6311 0.2383 0.5767 0.52 0.47 0.58 0.26 0.5401 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.338375 NA NA 0.561512 0.30345 NA 0.42 NA 2.393388 1421 4 15482477 15482477 A G intronic CC2D2A NA NA NA intronic ENSG00000048342 NA NA NA NA NA 4p15.32 NA NA NA NA rs10000250 0.89 0.89 0.889 0.85024 0.8767 0.9722 0.8415 0.8086 0.7597 0.87 0.99 0.87 0.82 0.8602 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 0.675604 NA NA 0.86988 0.827306 NA 0.913 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000114169.2;CLNDSDB=.;CLNDSDBID=. 2.39322 1421 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 1421 6 101054999 101054999 C T intronic ASCC3 NA NA NA intronic ENSG00000112249 NA NA NA NA NA 6q16.3 NA NA NA NA rs395521 0.62 0.62 0.613 0.574081 0.5408 0.7302 0.6153 0.6127 0.3661 0.56 0.75 0.58 0.57 0.5386 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 0.003615 NA NA 0.527565 0.596232 NA 0.601 NA 2.393035 1421 7 150698879 150698879 A G intronic NOS3 NA NA NA intronic ENSG00000164867 NA NA NA NA NA 7q36.1 NA NA NA NA rs1800780 0.59 0.59 0.556 0.569489 0.499 0.5942 0.6643 0.5741 0.5429 0.53 0.63 0.64 0.61 0.5722 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.909945 NA NA 0.536512 0.579891 NA 0.493 NA 2.392288 1421 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 1421 17 65720346 65720346 A G intronic NOL11 NA NA NA intronic ENSG00000130935 NA NA NA NA NA 17q24.2 NA NA NA NA rs11654692 0.45 0.45 0.395 0.465056 0.5229 0.5188 0.6138 0.2663 0.5133 0.51 0.48 0.57 0.22 0.5392 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.79281 NA NA 0.546005 0.306136 NA 0.493 NA 2.391895 1421 15 42127443 42127443 G C intronic JMJD7,JMJD7-PLA2G4B NA NA NA intronic ENSG00000168970,ENSG00000243789 NA NA NA NA NA 15q15.1 NA NA NA NA rs2241523 0.48 0.48 0.491 0.493211 0.5388 0.3026 0.5922 0.4766 0.5951 0.55 0.3 0.58 0.52 0.5409 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.136847 NA NA 0.528515 0.490223 NA 0.486 NA 2.391785 1421 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 1421 7 100468398 100468398 T C intronic TRIP6 NA NA NA intronic ENSG00000087077 NA NA NA NA NA 7q22.1 NA NA NA NA rs7783543 0.59 0.59 0.582 0.579673 0.5149 0.8105 0.6513 0.4198 0.5736 0.51 0.81 0.62 0.43 0.5739 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 -0.400084 NA NA 0.520465 0.449387 NA 0.464 NA 2.390735 1421 6 25726343 25726343 C T UTR3 HIST1H2AA NM_170745:c.*17G>A NA NA UTR3 ENSG00000164508 ENST00000297012:c.*17G>A NA NA NA NA 6p22.2 NA Name=HEY1 NA NA rs6940348 0.95 0.95 0.95 0.939896 0.9821 0.9812 0.9784 0.8411 0.9601 0.98 0.99 0.97 0.85 0.9711 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 -1.038127 NA NA 0.989419 0.877894 NA 0.957 NA 2.3907144 1421 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 1421 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 1421 16 84075563 84075563 C A intronic SLC38A8 NA NA NA intronic ENSG00000166558 NA NA NA NA NA 16q23.3 NA NA NA NA rs1105355 0.59 0.59 0.611 0.585064 0.5239 0.6895 0.5288 0.6672 0.4693 0.53 0.65 0.52 0.69 0.548 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 -0.528908 NA NA 0.538372 0.625 NA 0.486 NA 2.389728 1421 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 1421 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 1421 17 75303298 75303298 T C intronic SEPT9 NA NA NA intronic ENSG00000184640 NA NA NA NA NA 17q25.3 NA Name=TR4,AP-2gamma,AP-2alpha,HNF4A_(H-171),GR,TCF4,HNF4A NA NA rs4789439 0.91 0.91 0.911 0.91873 0.8807 0.9901 0.8718 0.9107 0.9284 0.89 0.99 0.84 0.9 0.8853 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 0.63578 NA NA 0.844919 0.902105 NA 0.92 NA 2.389081 1421 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 1421 14 91763637 91763637 C T intronic CCDC88C NA NA NA intronic ENSG00000015133 NA NA NA NA NA 14q32.11 NA NA NA NA rs3742656 0.54 0.54 0.539 0.49401 0.5417 0.4008 0.464 0.708 0.273 0.54 0.44 0.51 0.69 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 -0.1208 NA NA 0.539632 0.678538 NA 0.507 NA 2.388268 1421 1 160140998 160140998 G A intronic ATP1A4 NA NA NA intronic ENSG00000132681 NA NA NA NA NA 1q23.2 NA NA NA NA rs1209804 0.58 0.58 0.538 0.563099 0.5149 0.9167 0.6037 0.2746 0.6094 0.52 0.92 0.59 0.26 0.5618 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 -0.056555 NA NA 0.535349 0.305493 NA 0.674 NA 2.387951 1421 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 1421 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=Pol2-4H8,TAF1,NFKB,GATA-1,HEY1,CHD2_(N-1250),Pol2,Pol2(phosphoS2),E2F6,E2F6_(H-50),ZBTB7A_(SC-34508),Pol2(b),TBP,CCNT2,GR,ZNF263,c-Myc,IRF1,TCF4,Max,Mxi1_(bHLH),NRSF,Sin3Ak-20 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 1421 22 25597331 25597331 T C intronic CRYBB3 NA NA NA intronic ENSG00000100053 NA NA NA NA NA 22q11.23 NA NA NA NA rs2269672 0.65 0.65 0.644 0.654952 0.5219 0.7034 0.6412 0.8328 0.5112 0.51 0.67 0.65 0.83 0.566 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 0.67044 NA NA 0.524419 0.781888 NA 0.638 NA 2.387681 1421 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 1421 19 47823484 47823484 T C exonic C5AR1 NA unknown UNKNOWN exonic ENSG00000197405 NA synonymous SNV ENSG00000197405:ENST00000355085:exon2:c.T450C:p.A150A NA NA 19q13.32 NA NA NA NA rs4804049 0.99 0.99 0.984 0.988019 0.9751 1 0.9827 0.9992 0.9775 0.98 1 0.98 1 0.9877 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444743 NA NA 0.983372 0.998184 NA 0.964 NA 2.3871613 1421 9 127619922 127619922 T C UTR3 WDR38 NM_001276375:c.*13T>C,NM_001276374:c.*13T>C,NM_001045476:c.*13T>C,NM_001276376:c.*13T>C NA NA UTR3 ENSG00000136918 ENST00000373574:c.*13T>C NA NA NA NA 9q33.3 NA Name=BCL3,Pol2-4H8,Sin3Ak-20 NA NA rs944952 0.9 0.9 0.905 0.898962 0.993 0.7688 0.9669 0.8752 0.9202 0.99 0.75 0.97 0.89 0.9581 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.034963 NA NA 0.995415 0.880531 NA 0.957 NA 2.3868184 1421 22 50903221 50903221 C T intronic SBF1 NA NA NA intronic ENSG00000100241 NA NA NA NA NA 22q13.33 NA NA NA NA rs2076714 0.53 0.53 0.534 0.533946 0.5278 0.5595 0.536 0.5272 0.5215 0.53 0.54 0.54 0.52 0.5336 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.434073 NA NA 0.553161 0.53147 NA 0.652 NA 2.385439 1422 13 101755480 101755480 G T intronic NALCN NA NA NA intronic ENSG00000102452 NA NA NA NA NA 13q33.1 NA NA NA NA rs9300647 0.55 0.55 0.549 0.544129 0.5239 0.626 0.5231 0.4826 0.5787 0.52 0.63 0.54 0.5 0.5447 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.659267 NA NA 0.546628 0.483886 NA 0.529 NA 2.384772 1422 X 152807425 152807425 G A intronic ATP2B3 NA NA NA intronic ENSG00000067842 NA NA NA NA NA Xq28 NA NA NA NA rs762733 0.62 0.62 0.5938 NA NA NA NA NA NA 0.86 0.63 0.75 0.15 0.7559 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 -0.216671 NA NA 0.859373 0.208507 NA 0.42 NA 2.384727 1422 7 141755795 141755795 C T intronic MGAM NA NA NA intronic ENSG00000257335 NA NA NA NA NA 7q34 NA NA NA NA rs2961081 0.42 0.42 0.434 0.463458 0.5517 0.2073 0.6427 0.5287 0.4213 0.5 0.21 0.57 0.42 0.5276 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.662198 NA NA 0.536087 0.497908 NA 0.609 NA 2.384613 1422 1 894573 894573 G A intronic NOC2L NA NA NA intronic ENSG00000188976 NA NA NA NA NA 1p36.33 NA Name=NFKB,YY1_(C-20),TBP,Pol2(phosphoS2),TAF1,Max,Pol2,HMGN3,ELK4,SP1,PU.1,GABP,Pol2-4H8,YY1,c-Myc,SIX5,E2F4,ETS1,ELF1_(SC-631),Sin3Ak-20,HEY1,Mxi1_(bHLH),E2F6_(H-50) NA NA rs13303010 0.65 0.65 0.62 0.634385 0.9016 0.7083 0.6974 0.1634 0.8753 0.9 0.69 0.71 0.18 0.8172 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 0.920155 NA NA 0.896942 0.28457 NA 0.659 NA 2.384258 1422 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 1422 1 7202190 7202190 T C intronic CAMTA1 NA NA NA intronic ENSG00000171735 NA NA NA NA NA 1p36.23 NA NA NA NA rs970973 0.55 0.55 0.539 0.563498 0.5219 0.4256 0.4942 0.73 0.5726 0.51 0.43 0.55 0.76 0.5438 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 -0.724917 NA NA 0.550728 0.68379 NA 0.601 NA 2.383572 1422 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 1422 19 4548015 4548015 G A intronic SEMA6B NA NA NA intronic ENSG00000167680 NA NA NA NA NA 19p13.3 NA NA NA NA rs4807602 0.64 0.64 0.65 0.63099 0.5268 0.8938 0.5865 0.5749 0.5746 0.53 0.89 0.57 0.57 0.5979 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 -0.433363 NA NA 0.492895 0.559973 NA 0.565 NA 2.382405 1422 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 1422 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 1422 5 35921069 35921069 T C intronic CAPSL NA NA NA intronic ENSG00000152611 NA NA NA NA NA 5p13.2 NA Name=Rad21,SMC3_(ab9263),PU.1,CTCF NA NA rs6859892 0.85 0.85 0.833 0.859625 0.8698 0.8284 0.8674 0.8064 0.9479 0.87 0.86 0.88 0.8 0.8772 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 0.362903 NA NA 0.870814 0.816841 NA 0.899 NA 2.382186 1422 12 51693357 51693357 G A intronic BIN2 NA NA NA intronic ENSG00000110934 NA NA NA NA NA 12q13.13 NA NA NA NA rs2288368 0.49 0.49 0.468 0.503994 0.5308 0.4236 0.5245 0.5492 0.4836 0.5 0.41 0.54 0.54 0.5171 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.204217 NA NA 0.570581 0.541307 NA 0.558 NA 2.381519 1422 3 197483279 197483279 A G intronic FYTTD1 NA NA NA intronic ENSG00000122068 NA NA NA NA NA 3q29 NA NA Name=5 NA rs6794391 0.9 0.9 0.883 0.891573 0.8748 0.994 0.9135 0.8162 0.8896 0.9 0.99 0.9 0.77 0.8799 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 2.464498 2.464498 NA 0.863837 0.817749 NA 0.877 NA 2.381463 1422 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 1422 2 169690729 169690729 T C intronic NOSTRIN NA NA NA intronic ENSG00000163072 NA NA NA NA NA 2q24.3 NA NA NA NA rs522893 0.58 0.58 0.558 0.624601 0.5368 0.7004 0.5994 0.5991 0.6892 0.54 0.66 0.54 0.59 0.5718 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 -0.294375 NA NA 0.511228 0.588519 NA 0.529 NA 2.380172 1422 16 418462 418462 C G intronic MRPL28 NA NA NA intronic ENSG00000086504 NA NA NA NA NA 16p13.3 NA NA NA NA rs11640313 0.53 0.53 0.558 0.593051 0.5278 0.3274 0.4841 0.8177 0.7076 0.53 0.3 0.52 0.83 0.5533 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 0.157188 NA NA 0.539186 0.767363 NA 0.514 NA 2.379714 1422 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 1422 17 4350182 4350182 T C intronic SPNS3 NA NA NA intronic ENSG00000182557 NA NA NA NA NA 17p13.2 NA NA Name=7 NA rs2047233 0.73 0.73 0.732 0.751398 0.8857 0.2232 0.8386 0.9955 0.7658 0.88 0.2 0.88 0.99 0.8337 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 0.615546 NA NA 0.901395 0.973445 NA 0.848 NA 2.379205 1422 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 1422 5 72182857 72182857 A G intronic TNPO1 NA NA NA intronic ENSG00000083312 NA NA NA NA NA 5q13.2 NA NA NA NA rs4704045 0.45 0.45 0.397 0.440096 0.5417 0.37 0.6441 0.2383 0.5358 0.55 0.39 0.58 0.27 0.5337 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.589623 NA NA 0.545507 0.289905 NA 0.196 NA 2.379093 1422 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 1422 10 7866557 7866557 T C intronic TAF3 NA NA NA intronic ENSG00000165632 NA NA NA NA NA 10p14 NA NA NA NA rs1244471 0.61 0.61 0.617 0.627196 0.5229 0.7897 0.5476 0.5507 0.727 0.53 0.78 0.51 0.6 0.5722 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 0.677034 NA NA 0.526727 0.559924 NA 0.587 NA 2.378173 1422 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 1422 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 1422 17 3558698 3558698 G A intronic CTNS NA NA NA intronic ENSG00000040531 NA NA NA NA NA 17p13.2 NA NA NA NA rs467277 0.56 0.56 0.525 0.571685 0.5318 0.747 0.5591 0.4206 0.6452 0.52 0.76 0.56 0.41 0.5618 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 0.238562 NA NA 0.530113 0.455539 NA 0.435 NA 2.376287 1422 1 100346741 100346741 T C intronic AGL NA NA NA intronic ENSG00000162688 NA NA NA NA NA 1p21.2 NA NA NA NA rs3736296 0.56 0.56 0.54 0.558506 0.5338 0.6796 0.6095 0.4206 0.6094 0.54 0.68 0.6 0.42 0.5517 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826178 NA NA 0.538256 0.437585 NA 0.572 NA 2.376244 1422 3 13438830 13438830 A G intronic NUP210 NA NA NA intronic ENSG00000132182 NA NA NA NA NA 3p25.1 NA NA NA NA rs13066607 0.53 0.53 0.561 0.522364 0.5447 0.3085 0.4121 0.8374 0.3722 0.53 0.35 0.44 0.82 0.5191 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 -0.51517 NA NA 0.560233 0.77803 NA 0.696 NA 2.375967 1422 13 76135028 76135028 T A intronic UCHL3 NA NA NA ncRNA_intronic ENSG00000261553 NA NA NA NA NA 13q22.2 NA NA NA NA rs4884008 0.57 0.57 0.572 0.499401 0.664 0.6359 0.5086 0.2738 0.4877 0.66 0.69 0.58 0.29 0.6116 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 1.017435 NA NA 0.68186 0.361099 NA 0.449 NA 2.3758733 1422 16 24105669 24105669 G A intronic PRKCB NA NA NA intronic ENSG00000166501 NA NA NA NA NA 16p12.2 NA NA NA NA rs7196765 0.51 0.51 0.538 0.523562 0.5626 0.3829 0.4553 0.6884 0.454 0.55 0.36 0.48 0.65 0.519 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.912428 NA NA 0.543256 0.646336 NA 0.616 NA 2.375144 1422 2 26739247 26739247 T A intronic OTOF NA NA NA intronic ENSG00000115155 NA NA NA NA NA 2p23.3 NA NA NA NA rs7575020 0.43 0.43 0.42 0.451677 0.5268 0.12 0.6066 0.4584 0.5971 0.52 0.13 0.6 0.5 0.5199 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.967527 NA NA 0.578256 0.474796 NA 0.449 NA 2.375044 1423 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 1423 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 1423 4 15964040 15964040 G A intronic FGFBP2 NA NA NA intronic ENSG00000137441 NA NA NA NA NA 4p15.32 NA NA NA NA rs2286460 0.5 0.5 0.452 0.562899 0.5258 0.4871 0.6657 0.4334 0.7812 0.51 0.44 0.65 0.45 0.5658 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.545166 NA NA 0.535116 0.469587 NA 0.587 NA 2.373284 1423 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 1423 17 78201783 78201783 T G intronic SLC26A11 NA NA NA intronic ENSG00000181045 NA NA NA NA NA 17q25.3 NA NA NA NA rs6565653 0.71 0.71 0.707 0.73762 0.4761 0.9752 0.7262 0.7685 0.728 0.5 0.97 0.7 0.72 0.6315 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 0.103148 NA NA 0.519302 0.724671 NA 0.594 NA 2.373098 1423 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 1423 19 1488147 1488147 C T intronic PCSK4 NA NA NA intronic ENSG00000115257 NA NA NA NA NA 19p13.3 NA NA NA NA rs4807120 0.46 0.46 0.414 0.432508 0.5437 0.5139 0.572 0.1611 0.502 0.56 0.51 0.58 0.16 0.5266 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.853347 NA NA 0.556744 0.221163 NA 0.486 NA 2.372956 1423 5 33596193 33596193 A G intronic ADAMTS12 NA NA NA intronic ENSG00000151388 NA NA NA NA NA 5p13.3 NA NA NA NA rs10461925 0.48 0.48 0.473 0.477835 0.5507 0.5605 0.4669 0.2746 0.6002 0.52 0.56 0.5 0.29 0.5307 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.558872 NA NA 0.545814 0.329324 NA 0.413 NA 2.372786 1423 2 204116660 204116660 A T intronic CYP20A1 NA NA NA intronic ENSG00000119004 NA NA NA NA NA 2q33.2 NA NA NA NA rs3731694 0.39 0.39 0.347 0.406749 0.5626 0.3204 0.4496 0.1717 0.6227 0.54 0.28 0.51 0.2 0.5048 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.901303 3.901303 NA 0.559884 0.241935 NA 0.348 NA 2.372716 1423 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 1423 5 13692279 13692279 A T intronic DNAH5 NA NA NA intronic ENSG00000039139 NA NA NA NA NA 5p15.2 NA NA NA NA rs2166337 0.51 0.51 0.515 0.508786 0.5497 0.4544 0.5173 0.5605 0.4468 0.55 0.42 0.54 0.54 0.5258 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124491 NA NA 0.55314 0.551521 NA 0.507 NA 2.37136 1423 8 110413824 110413824 C T intronic PKHD1L1 NA NA NA intronic ENSG00000205038 NA NA NA NA NA 8q23.1 NA NA NA NA rs2061294 0.55 0.55 0.536 0.605631 0.5239 0.3968 0.6571 0.7201 0.7137 0.51 0.42 0.63 0.71 0.5713 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.291166 NA NA 0.534267 0.698338 NA 0.645 NA 2.370533 1423 6 34962060 34962060 G A intronic ANKS1A NA NA NA intronic ENSG00000064999 NA NA NA NA NA 6p21.31 NA NA NA NA rs3823438 0.36 0.36 0.341 0.326478 0.5716 0.2421 0.4971 0.0257 0.4468 0.57 0.27 0.52 0.04 0.4916 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.077094 2.077094 NA 0.56686 0.117794 NA 0.333 NA 2.36994 1423 3 38521156 38521156 T C intronic ACVR2B NA NA NA intronic ENSG00000114739 NA NA NA NA NA 3p22.2 NA NA NA NA rs13097628 0.36 0.36 0.373 0.35643 0.5755 0.2609 0.3242 0.1362 0.5501 0.58 0.28 0.32 0.15 0.4853 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894417 NA NA 0.569419 0.191784 NA 0.384 NA 2.369781 1423 7 103138517 103138517 C G intronic RELN NA NA NA ncRNA_intronic ENSG00000234715 NA NA NA NA NA 7q22.1 NA NA NA NA rs2711885 0.99 0.99 0.996 0.995607 0.9901 1 0.9986 0.9992 0.9898 0.99 1 1 1 0.987 1 NA NA 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 0.987093 0.998411 NA 1 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081246.3;CLNDSDB=.;CLNDSDBID=. 2.3691403 1423 7 16899197 16899197 C T UTR3 AGR3 NM_176813:c.*9G>A NA NA UTR3 ENSG00000173467 ENST00000310398:c.*9G>A NA NA NA NA 7p21.1 NA NA NA NA rs11798 0.64 0.64 0.601 0.617013 0.661 0.7411 0.7219 0.4569 0.5859 0.66 0.74 0.69 0.44 0.6429 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.078503 NA NA 0.660468 0.462208 NA 0.522 NA 2.3689654 1423 6 65525121 65525121 C T intronic EYS NA NA NA intronic ENSG00000188107 NA NA NA NA NA 6q12 NA NA NA NA rs1390272 0.48 0.48 0.433 0.464856 0.5497 0.494 0.6801 0.2549 0.4785 0.55 0.45 0.66 0.27 0.5562 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 -0.319223 NA NA 0.526116 0.307958 NA 0.507 NA 2.367984 1423 1 242048945 242048945 C T intronic EXO1 NA NA NA intronic ENSG00000174371 NA NA NA NA NA 1q43 NA NA NA NA rs1635488 0.47 0.47 0.452 0.452077 0.5646 0.3819 0.4769 0.3684 0.5041 0.56 0.4 0.51 0.37 0.5263 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.18956 NA NA 0.541185 0.382857 NA 0.428 NA 2.367915 1423 14 105344761 105344761 C T intronic CEP170B NA NA NA intronic ENSG00000099814 NA NA NA NA NA 14q32.33 NA NA NA NA rs41317300 0.35 0.35 0.315 0.340056 0.5686 0.1994 0.5086 0.0877 0.4714 0.57 0.17 0.51 0.11 0.4893 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.579899 NA NA 0.574226 0.173792 NA 0.406 NA 2.367874 1423 9 18889544 18889544 A T intronic ADAMTSL1 NA NA NA intronic ENSG00000178031 NA NA NA NA NA 9p22.1 NA NA NA NA rs10963819 0.62 0.62 0.641 0.623003 0.5447 0.6458 0.4971 0.7284 0.6268 0.56 0.65 0.48 0.76 0.5597 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 0.07665 NA NA 0.527892 0.687564 NA 0.652 NA 2.367708 1423 2 206364791 206364791 C G intronic PARD3B NA NA NA intronic ENSG00000116117 NA NA NA NA NA 2q33.3 NA NA NA NA rs11683289 0.38 0.38 0.411 0.388179 0.5666 0.4038 0.3804 0.2511 0.3793 0.48 0.39 0.39 0.2 0.4791 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.780907 NA NA 0.58684 0.258502 NA 0.384 NA 2.36746 1423 1 158587390 158587390 C T intronic SPTA1 NA NA NA intronic ENSG00000163554 NA NA NA NA NA 1q23.1 NA NA NA NA rs857716 0.54 0.54 0.493 0.491014 0.5626 0.63 0.5187 0.3699 0.4182 0.58 0.61 0.52 0.41 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 1.496829 1.496829 NA 0.536861 0.372747 NA 0.471 NA 2.367439 1423 8 12600622 12600622 C T intronic LONRF1 NA NA NA intronic ENSG00000154359 NA NA NA NA NA 8p23.1 NA NA Name=2 NA rs7837242 0.88 0.88 0.856 0.836262 0.8847 0.9365 0.9236 0.7466 0.7423 0.89 0.94 0.92 0.76 0.8685 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 0.174885 NA NA 0.879365 0.758402 NA 0.746 NA 2.367435 1423 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 1423 5 146971253 146971253 C T ncRNA_intronic JAKMIP2-AS1 NA NA NA intronic ENSG00000176049 NA NA NA Score=385;Name=lod=49 NA 5q32 NA NA NA NA rs7449194 0.91 0.91 0.904 0.904752 0.996 0.8552 0.9755 0.7716 0.9918 1 0.85 0.98 0.8 0.9721 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.434045 NA NA 0.99907 0.834998 NA 0.877 NA 2.3661633 1423 6 32609371 32609371 T C intronic HLA-DQA1 NA NA NA intronic ENSG00000196735 NA NA NA NA NA 6p21.32 NA NA NA NA rs4467816 0.37 0.37 0.537 0.434305 0.3847 0.4563 0.3343 0.385 0.6002 0.39 0.38 0.32 0.38 0.6705 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469427 NA NA 0.578642 0.534858 NA 0.37 NA 2.366158 1423 11 89896457 89896457 C T intronic NAALAD2 NA NA NA intronic ENSG00000077616 NA NA NA NA NA 11q14.3 NA NA NA NA rs489009 0.62 0.62 0.62 0.655351 0.5447 0.4673 0.6427 0.9175 0.6176 0.54 0.45 0.65 0.93 0.575 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 0.426649 NA NA 0.514306 0.850522 ID=COSN164026;OCCURENCE=1(breast) 0.659 NA 2.365994 1423 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 1424 2 158395079 158395079 C G intronic ACVR1C NA NA NA intronic ENSG00000123612 NA NA NA Score=574;Name=lod=286 NA 2q24.1 NA NA NA NA rs7576514 0.88 0.88 0.849 0.844649 0.8897 0.9296 0.9135 0.7837 0.7444 0.89 0.92 0.91 0.79 0.8657 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 1.091694 NA NA 0.879767 0.792783 NA 0.855 NA 2.364833 1424 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 1424 1 236711297 236711297 A T intronic LGALS8 NA NA NA ncRNA_intronic ENSG00000230325 NA NA NA NA NA 1q43 NA NA NA NA rs2254823 0.56 0.56 0.54 0.500399 0.6759 0.4772 0.5101 0.4448 0.4121 0.68 0.49 0.55 0.46 0.611 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.856779 2.856779 NA 0.682442 0.493191 NA 0.623 NA 2.3639913 1424 2 202245244 202245244 A G UTR3 TRAK2 NM_015049:c.*22T>C NA NA UTR3 ENSG00000115993 ENST00000332624:c.*22T>C NA NA NA NA 2q33.1 NA NA NA NA rs3795966 0.53 0.53 0.502 0.550919 0.664 0.502 0.5663 0.3767 0.7096 0.67 0.48 0.56 0.36 0.6329 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 0.97766 NA NA 0.672907 0.395143 NA 0.572 NA 2.3635264 1424 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 1424 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 1424 1 236708224 236708224 A C intronic LGALS8 NA NA NA ncRNA_intronic ENSG00000230325 NA NA NA NA NA 1q43 NA NA NA NA rs2244063 0.56 0.56 0.528 0.5002 0.6759 0.4772 0.5086 0.4448 0.4121 0.68 0.49 0.55 0.46 0.6133 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.767931 3.767931 NA 0.682326 0.492964 NA 0.63 NA 2.3618073 1424 14 20666556 20666556 C T downstream OR11G2 NA NA NA UTR3 ENSG00000196832 ENST00000357366:c.*24C>T NA NA NA NA 14q11.2 NA NA NA NA rs2318886 0.52 0.52 0.507 0.499002 0.5577 0.5863 0.5389 0.2973 0.593 0.56 0.62 0.55 0.31 0.5368 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.468157 NA NA 0.544237 0.359836 NA 0.493 NA 2.361263 1424 1 59131311 59131311 G T intronic MYSM1 NA NA NA intronic ENSG00000162601 NA NA NA NA NA 1p32.1 Score=866;Name=V$EVI1_05 NA NA NA rs232790 0.88 0.88 0.862 0.895168 0.8718 0.9365 0.9092 0.8495 0.9284 0.87 0.93 0.91 0.84 0.8933 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 0.15018 NA NA 0.873647 0.844875 NA 0.848 NA 2.361253 1424 14 20916987 20916987 G A intronic OSGEP NA NA NA intronic ENSG00000092094 NA NA NA NA NA 14q11.2 NA NA NA NA rs938882 0.46 0.46 0.47 0.433506 0.5726 0.2698 0.4006 0.4803 0.4192 0.57 0.28 0.47 0.51 0.5073 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.376555 NA NA 0.55907 0.46709 NA 0.478 NA 2.36103 1424 4 52896050 52896050 A G intronic SGCB NA NA NA intronic ENSG00000163069 NA NA NA NA NA 4q12 NA NA NA NA rs225170 0.42 0.42 0.388 0.355631 0.5755 0.3373 0.5965 0.0968 0.3272 0.57 0.35 0.64 0.11 0.4936 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.370623 1.370623 NA 0.570116 0.170676 NA 0.333 NA 2.360784 1424 19 10084551 10084551 T G intronic COL5A3 NA NA NA intronic ENSG00000080573 NA NA NA NA NA 19p13.2 NA NA NA NA rs2287811 0.64 0.64 0.671 0.657748 0.5229 0.5625 0.4798 0.9758 0.591 0.52 0.58 0.51 0.97 0.5764 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 0.967576 NA NA 0.540233 0.897413 NA 0.659 NA 2.360467 1424 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 1424 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 1424 15 51204364 51204364 G A intronic AP4E1 NA NA NA intronic ENSG00000081014 NA NA NA NA NA 15q21.2 NA NA NA NA rs1147129 0.52 0.52 0.513 0.559105 0.5338 0.375 0.611 0.621 0.6544 0.53 0.41 0.62 0.57 0.5653 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.876999 2.876999 NA 0.542734 0.602004 NA 0.601 NA 2.358166 1424 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 1424 15 51207818 51207818 G C intronic AP4E1 NA NA NA intronic ENSG00000081014 NA NA NA NA NA 15q21.2 NA NA NA NA rs2663553 0.52 0.52 0.497 0.563299 0.5328 0.375 0.611 0.6377 0.6544 0.53 0.41 0.62 0.58 0.5665 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.098809 NA NA 0.54287 0.622495 NA 0.601 NA 2.35783 1424 10 135083812 135083812 C A intronic ADAM8 NA NA NA intronic ENSG00000151651 NA NA NA NA NA 10q26.3 NA NA NA NA rs885023 0.75 0.75 0.727 0.722045 0.827 0.9177 0.7522 0.4198 0.7996 0.84 0.92 0.75 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 0.156332 NA NA 0.815551 0.502291 NA 0.746 NA 2.357449 1424 3 111637904 111637904 G A intronic PHLDB2 NA NA NA intronic ENSG00000144824 NA NA NA Score=289;Name=lod=20 NA 3q13.2 NA NA NA NA rs2399399 0.88 0.88 0.879 0.835663 0.8887 0.9077 0.8746 0.7935 0.7362 0.89 0.92 0.89 0.79 0.8648 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 1.796127 1.796127 NA 0.889419 0.812528 NA 0.862 NA 2.357081 1424 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 1424 4 96073956 96073956 A T intronic BMPR1B NA NA NA intronic ENSG00000138696 NA NA NA NA NA 4q22.3 NA NA NA NA rs1365691 0.45 0.45 0.41 0.430911 0.5586 0.3849 0.6009 0.2769 0.4346 0.56 0.36 0.58 0.29 0.5304 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.714894 NA NA 0.554302 0.294598 NA 0.522 NA 2.356698 1424 16 79245465 79245465 T C intronic WWOX NA NA NA intronic ENSG00000186153 NA NA NA NA NA 16q23.2 NA NA NA NA rs384216 0.37 0.37 0.34 0.347244 0.5666 0.124 0.3501 0.3472 0.3497 0.56 0.11 0.39 0.34 0.4811 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.952977 1.952977 NA 0.596731 0.404574 NA 0.493 NA 2.355569 1424 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 1424 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 1425 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 1425 3 158308875 158308875 T C intronic MLF1 NA NA NA intronic ENSG00000178053 NA NA NA NA NA 3q25.32 NA NA Name=2 NA rs2566339 0.93 0.93 0.955 0.935304 0.8718 1 0.9164 0.9728 0.8967 0.87 1 0.89 0.98 0.8989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080232 NA NA 0.874435 0.9629 NA 0.957 NA 2.354865 1425 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 1425 16 426476 426476 T C intronic TMEM8A NA NA NA intronic ENSG00000129925 NA NA NA NA NA 16p13.3 NA NA NA NA rs2071916 0.5 0.5 0.499 0.532748 0.5378 0.3046 0.4712 0.6188 0.6902 0.54 0.29 0.49 0.68 0.541 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.165843 NA NA 0.566705 0.623976 NA 0.464 NA 2.354495 1425 10 3202140 3202140 C T intronic PITRM1 NA NA NA ncRNA_intronic ENSG00000237399 NA NA NA NA NA 10p15.2 NA NA NA NA rs4242747 0.6 0.6 0.603 0.575679 0.666 0.5873 0.5432 0.4637 0.6452 0.68 0.61 0.61 0.45 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 -0.775132 NA NA 0.678538 0.542326 NA 0.652 NA 2.3540953 1425 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 1425 3 40498933 40498933 A G UTR5 RPL14 NM_001034996:c.-30A>G NA NA UTR5 ENSG00000188846 ENST00000396203:c.-30A>G,ENST00000416518:c.-30A>G,ENST00000435633:c.-30A>G NA NA NA NA 3p22.1 NA Name=HEY1,Pol2-4H8,NFKB,TAF1,HMGN3,POU2F2,TAF7_(SQ-8),Pol2(phosphoS2),Pol2,JunD,YY1,TBP,CCNT2,Mxi1_(bHLH),Sin3Ak-20,Oct-2,c-Myc NA NA rs4973904 0.98 0.98 0.979 0.970847 0.996 1 0.9914 0.8986 0.998 1 1 0.99 0.91 0.989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.581704 1.581704 NA 0.994641 0.922273 NA 0.775 NA 2.3536924 1425 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 1425 19 58601221 58601221 T C intronic ZSCAN18 NA NA NA intronic ENSG00000121413 NA NA NA NA NA 19q13.43 NA NA NA NA rs2547354 0.51 0.51 0.507 0.509385 0.5557 0.2897 0.5865 0.6475 0.4468 0.54 0.32 0.56 0.64 0.5416 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202518 NA NA 0.55 0.605992 NA 0.486 NA 2.3527 1425 3 119196334 119196334 G T intronic POGLUT1 NA NA NA intronic ENSG00000163389 NA NA NA NA NA 3q13.33 NA NA NA NA rs3732419 0.62 0.62 0.636 0.639377 0.5417 0.7232 0.4452 0.7254 0.6748 0.54 0.73 0.49 0.72 0.5735 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 0.364079 NA NA 0.532442 0.699274 NA 0.406 NA 2.352358 1425 19 33430816 33430816 T G intronic CEP89 NA NA NA intronic ENSG00000121289 NA NA NA NA NA 19q13.11 NA NA NA NA rs12461782 0.59 0.59 0.556 0.574281 0.5547 0.5982 0.6758 0.5575 0.5204 0.57 0.62 0.61 0.58 0.5682 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.647042 NA NA 0.524869 0.584702 NA 0.623 NA 2.352231 1425 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 1425 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 1425 2 39553271 39553271 A G intronic MAP4K3 NA NA NA intronic ENSG00000011566 NA NA NA NA NA 2p22.1 NA NA Name=41 NA rs3815594 0.81 0.81 0.784 0.775559 0.9026 0.8512 0.7723 0.6104 0.7924 0.91 0.84 0.77 0.64 0.8479 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 -0.101699 NA NA 0.89814 0.686791 NA 0.768 NA 2.35136 1425 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 1425 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 1425 20 33763951 33763951 C T intronic PROCR NA NA NA intronic ENSG00000088298,ENSG00000101000 NA NA NA NA NA 20q11.22 NA NA NA NA rs2069952 0.55 0.55 0.564 0.607029 0.5169 0.372 0.4597 0.8707 0.6902 0.54 0.33 0.49 0.87 0.5687 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 4.118577 4.118577 NA 0.564201 0.797776 NA 0.652 NA 2.350199 1425 9 79922839 79922839 A G intronic VPS13A NA NA NA intronic ENSG00000197969 NA NA NA NA NA 9q21.2 NA NA NA NA rs2275549 0.55 0.55 0.515 0.560703 0.5378 0.5734 0.6052 0.5068 0.6125 0.54 0.57 0.62 0.52 0.5879 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.27291 NA NA 0.524186 0.508174 NA 0.587 NA 2.350114 1425 17 79108141 79108141 A G intronic AATK NA NA NA intronic ENSG00000181409 NA NA NA NA NA 17q25.3 NA NA NA NA rs4969397 0.86 0.86 0.831 0.858826 0.8101 0.9891 0.8876 0.7648 0.8814 0.8 0.99 0.88 0.77 0.8406 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 -0.534597 NA NA NA NA NA 0.783 NA 2.3493 1425 17 76137198 76137198 T G UTR3 TMC8 NM_152468:c.*5T>G NA NA UTR3 ENSG00000167895 ENST00000318430:c.*5T>G,ENST00000589691:c.*5T>G NA NA NA NA 17q25.3 NA Name=ZBTB7A_(SC-34508) NA NA rs369764 1 1 0.995 0.998602 0.995 1 0.9986 1 0.999 0.99 1 1 1 0.9955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.503768 NA NA 0.993579 0.998745 NA 0.761 NA 2.3492544 1425 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 1425 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 1425 11 972270 972270 C T intronic AP2A2 NA NA NA intronic ENSG00000183020 NA NA NA NA NA 11p15.5 NA NA NA NA rs7933889 0.47 0.47 0.456 0.436102 0.5646 0.2669 0.6873 0.4569 0.272 0.55 0.3 0.65 0.43 0.5343 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.730968 NA NA 0.552068 0.46001 NA 0.594 NA 2.349032 1425 4 76956188 76956188 T C intronic ART3,CXCL11 NA NA NA intronic ENSG00000156219,ENSG00000169248 NA NA NA NA NA 4q21.1 NA NA NA NA rs4241580 0.7 0.7 0.7 0.690495 0.508 0.9375 0.7493 0.7322 0.5256 0.49 0.94 0.71 0.75 0.6059 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 -1.061806 NA NA 0.537334 0.709033 NA 0.58 NA 2.348766 1425 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 1425 X 84534383 84534383 A C UTR3 POF1B NM_024921:c.*44T>G NA NA UTR3 ENSG00000124429 ENST00000262753:c.*44T>G,ENST00000490301:c.*556T>G NA NA NA NA Xq21.1 NA NA NA NA rs2227090 1 1 NA NA NA NA NA NA NA 1 1 1 0.99 0.9874 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.717671 NA NA 0.997616 0.987986 NA 0.681 NA 2.3483174 1425 11 63681648 63681648 G A intronic RCOR2 NA NA NA intronic ENSG00000167771 NA NA NA NA NA 11q13.1 NA NA NA NA rs4980533 0.59 0.59 0.52 0.528355 0.5427 0.8829 0.7161 0.1944 0.4663 0.54 0.89 0.69 0.23 0.5616 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 1.191042 NA NA 0.547475 0.259882 NA 0.536 NA 2.348225 1425 7 142250988 142250988 G A intergenic LOC730441,MTRNR2L6 dist=278920;dist=123143 NA NA exonic ENSG00000211713 NA nonsynonymous SNV ENSG00000211713:ENST00000390360:exon2:c.C59T:p.T20I NA NA 7q34 NA NA NA NA rs361437 0.88 0.88 0.874 0.8748 0.8101 0.9762 0.8977 0.8684 0.8292 0.81 0.97 0.9 0.86 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 0.699547 NA 0.08 0.833055 0.857214 NA 0.812 NA 2.3480784 1425 7 142250938 142250938 T G intergenic LOC730441,MTRNR2L6 dist=278870;dist=123193 NA NA exonic ENSG00000211713 NA nonsynonymous SNV ENSG00000211713:ENST00000390360:exon2:c.A109C:p.S37R NA NA 7q34 NA NA NA NA rs361439 0.88 0.88 0.868 0.8748 0.8101 0.9762 0.8977 0.8684 0.8292 0.81 0.97 0.9 0.86 0.8422 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 1.06114 NA 0.36 0.834087 0.858533 NA 0.812 NA 2.3469464 1425 7 142251132 142251132 G T intergenic LOC730441,MTRNR2L6 dist=279064;dist=122999 NA NA exonic ENSG00000211713 NA nonsynonymous SNV ENSG00000211713:ENST00000390360:exon1:c.C6A:p.S2R NA NA 7q34 NA NA NA NA rs361436 0.88 0.88 0.868 0.8748 0.8101 0.9762 0.8977 0.8684 0.8292 0.81 0.97 0.9 0.86 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 1.794582 1.794582 0.17 0.834296 0.857179 NA 0.819 NA 2.3468374 1425 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 1425 15 89444760 89444760 T C intronic MFGE8 NA NA NA intronic ENSG00000140545 NA NA NA NA NA 15q26.1 NA NA NA NA rs2015495 0.47 0.47 0.465 0.514976 0.5517 0.3383 0.5504 0.528 0.6166 0.54 0.33 0.53 0.48 0.5292 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.266014 NA NA 0.573157 0.535227 NA 0.594 NA 2.345943 1426 16 84093062 84093062 G A intronic MBTPS1 NA NA NA intronic ENSG00000140943 NA NA NA NA NA 16q23.3 NA NA NA NA rs2280024 0.49 0.49 0.446 0.461661 0.5696 0.5337 0.4856 0.2776 0.5082 0.57 0.52 0.51 0.31 0.52 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.046601 NA NA 0.566163 0.320455 NA 0.435 NA 2.344237 1426 3 17077268 17077268 C T intronic PLCL2 NA NA NA intronic ENSG00000154822 NA NA NA NA NA 3p24.3 NA NA NA NA rs17272796 0.59 0.59 0.578 0.633586 0.5358 0.627 0.5922 0.6997 0.681 0.53 0.62 0.52 0.69 0.5901 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 -1.199109 NA NA 0.529884 0.647831 NA 0.594 NA 2.344216 1426 17 44077044 44077044 T C UTR3 STH NM_001007532:c.*12T>C NA NA UTR3 ENSG00000256762 ENST00000537309:c.*12T>C NA NA NA NA 17q21.31 NA Name=c-Jun,JunD NA NA rs71375329 0.97 0.97 0.966 0.964058 1 0.999 0.9827 0.8744 0.999 1 1 0.98 0.87 0.9909 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.5061 NA NA 0.998552 0.893568 NA 0.978 NA 2.3438814 1426 17 39959511 39959511 C T intronic LEPREL4 NA NA NA intronic ENSG00000141696 NA NA NA NA NA 17q21.2 NA NA NA NA rs3809877 0.46 0.46 0.478 0.490615 0.5457 0.4306 0.464 0.4236 0.6053 0.54 0.41 0.46 0.41 0.5399 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.691253 2.691253 NA 0.570581 0.459601 NA 0.514 NA 2.343819 1426 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 1426 4 74310844 74310844 A G intronic AFP NA NA NA intronic ENSG00000081051 NA NA NA NA NA 4q13.3 NA NA NA NA rs2298839 0.55 0.55 0.56 0.51238 0.5467 0.6667 0.4193 0.4584 0.4571 0.55 0.66 0.47 0.46 0.5462 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 0.957853 NA NA 0.564186 0.447345 NA 0.457 NA 2.342914 1426 4 170354836 170354836 C T intronic NEK1 NA NA NA intronic ENSG00000137601 NA NA NA NA NA 4q33 NA NA NA NA rs7680152 0.81 0.81 0.777 0.795327 0.9006 0.8185 0.8689 0.5673 0.9192 0.91 0.82 0.87 0.58 0.8722 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 0.757628 NA NA 0.884399 0.586481 NA 0.79 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081535.1;CLNDSDB=.;CLNDSDBID=. 2.342801 1426 X 47920356 47920356 A G intronic ZNF630 NA NA NA ncRNA_intronic ENSG00000238068 NA NA NA NA NA Xp11.23 NA NA NA NA rs727079 1 1 0.99762 NA NA NA NA NA NA 1 1 0.99 1 0.9965 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.522286 NA NA 0.994534 1 NA 0.746 NA 2.3422993 1426 4 184619017 184619017 C G intronic TRAPPC11 NA NA NA intronic ENSG00000168538 NA NA NA NA NA 4q35.1 NA NA NA NA rs12651215 0.54 0.54 0.555 0.520767 0.5547 0.4911 0.4683 0.6702 0.3517 0.56 0.46 0.47 0.65 0.5277 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 0.034468 NA NA 0.575349 0.656378 NA 0.565 NA 2.342251 1426 6 599042 599042 T A intronic EXOC2 NA NA NA intronic ENSG00000112685 NA NA NA NA NA 6p25.3 NA NA NA NA rs2294664 0.54 0.54 0.528 0.481829 0.5696 0.6419 0.5749 0.3154 0.3855 0.56 0.63 0.6 0.35 0.5257 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606676 NA NA 0.562456 0.333409 NA 0.457 NA 2.342244 1426 9 117846450 117846450 A G intronic TNC NA NA NA intronic ENSG00000041982 NA NA NA NA NA 9q33.1 NA NA NA NA rs1755639 0.54 0.54 0.525 0.547125 0.5636 0.4058 0.6455 0.6483 0.4693 0.55 0.4 0.61 0.63 0.5485 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.740892 NA NA 0.545814 0.610758 NA 0.572 NA 2.342086 1426 2 37255015 37255015 G A intronic HEATR5B NA NA NA intronic ENSG00000008869 NA NA NA NA NA 2p22.2 NA NA NA NA rs2540998 0.65 0.65 0.685 0.669329 0.5308 0.6885 0.5317 0.8638 0.6268 0.54 0.66 0.53 0.88 0.5879 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 0.61063 NA NA 0.539419 0.816076 NA 0.543 NA 2.341881 1426 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 1426 5 78586914 78586914 G T intronic JMY NA NA NA intronic ENSG00000152409 NA NA NA NA NA 5q14.1 NA NA NA NA rs10043008 0.5 0.5 0.473 0.460863 0.5785 0.4841 0.5389 0.3623 0.3937 0.58 0.46 0.51 0.42 0.5131 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.022111 NA NA 0.567225 0.367762 NA 0.428 NA 2.341175 1426 2 116599927 116599927 T C UTR3 DPP10 NM_020868:c.*6T>C,NM_001178036:c.*6T>C,NM_001178037:c.*6T>C,NM_001178034:c.*6T>C,NM_001004360:c.*6T>C NA NA UTR3 ENSG00000175497 ENST00000410059:c.*6T>C,ENST00000409163:c.*6T>C,ENST00000310323:c.*6T>C NA NA Score=546;Name=lod=220 NA 2q14.1 NA NA NA NA rs272009 0.98 0.98 0.977 0.982628 1 1 0.9957 0.9365 1 1 1 1 0.93 0.9945 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.322314 NA NA 0.998023 0.953019 NA 0.978 NA 2.3408104 1426 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 1426 6 30030114 30030114 A G intronic ZNRD1 NA NA NA intronic ENSG00000066379 NA NA NA NA NA 6p22.1 NA NA Name=4 NA rs9261269 0.92 0.92 0.92 0.932308 0.8857 0.9841 0.8977 0.9334 0.9499 0.87 0.98 0.9 0.94 0.9025 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 -0.590745 NA NA 0.871539 0.911648 NA 0.891 NA 2.340261 1426 2 155306885 155306885 C T intronic GALNT13,LOC100144595 NA NA NA ncRNA_intronic ENSG00000224675 NA NA NA NA NA 2q24.1 NA Name=CEBPB NA NA rs697648 0.98 0.98 0.979 0.982228 1 1 0.9971 0.9342 1 1 1 1 0.93 0.9937 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.970506 2.970506 NA 0.999651 0.929414 NA 0.957 NA 2.3399823 1426 13 22275583 22275583 G A UTR3 FGF9 NM_002010:c.*9G>A NA NA UTR3 ENSG00000102678 ENST00000382353:c.*9G>A NA NA Score=726;Name=lod=1192 NA 13q12.11 NA NA NA NA rs9509842 0.99 0.99 0.981 0.981829 0.999 1 0.9986 0.9327 1 1 1 1 0.93 0.9948 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.048033 NA NA 0.999651 0.943032 NA 0.978 NA 2.3398824 1426 10 101654696 101654696 T C intronic DNMBP NA NA NA intronic ENSG00000107554 NA NA NA NA NA 10q24.2 NA NA NA NA rs3758394 0.45 0.45 0.461 0.45607 0.5736 0.2808 0.4784 0.4652 0.4877 0.54 0.29 0.52 0.46 0.5187 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282059 NA NA 0.568488 0.492056 NA 0.565 NA 2.339212 1426 9 124910582 124910582 C A intronic NDUFA8 NA NA NA intronic ENSG00000119421 NA NA NA NA NA 9q33.2 NA NA NA NA rs3793616 0.36 0.36 0.331 0.335463 0.5845 0.2004 0.3588 0.1067 0.5112 0.59 0.2 0.4 0.15 0.4887 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.428586 NA NA 0.587674 0.160463 NA 0.348 NA 2.339126 1426 9 34635598 34635598 T C UTR3 SIGMAR1 NM_147157:c.*31A>G,NM_005866:c.*31A>G NA NA UTR3 ENSG00000147955 ENST00000277010:c.*31A>G,ENST00000353468:c.*335A>G,ENST00000378892:c.*31A>G,ENST00000477726:c.*31A>G NA NA Score=544;Name=lod=217 NA 9p13.3 NA NA NA NA rs4879809 0.99 0.99 0.988 0.98742 1 1 0.9971 0.9576 0.9949 1 1 1 0.96 0.9949 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.8735 2.8735 NA 0.999419 0.961416 NA 0.993 NA 2.3390144 1426 4 76943137 76943137 G C intronic ART3,CXCL10 NA NA NA intronic ENSG00000156219,ENSG00000169245 NA NA NA NA NA 4q21.1 NA NA NA NA rs4859584 0.7 0.7 0.7 0.691094 0.508 0.9375 0.7493 0.7315 0.5297 0.49 0.94 0.71 0.75 0.6058 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 -0.543821 NA NA 0.547591 0.742342 NA 0.58 NA 2.338609 1426 12 98925650 98925650 G T intronic TMPO NA NA NA intronic ENSG00000120802 NA NA NA NA NA 12q23.1 NA NA NA NA rs3213901 0.52 0.52 0.527 0.530351 0.5527 0.3601 0.4481 0.6339 0.6012 0.56 0.35 0.49 0.66 0.54 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 -0.214936 NA NA 0.568849 0.651896 NA 0.565 NA 2.338451 1426 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 1426 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 1426 15 76191852 76191852 T C UTR3 UBE2Q2 NM_173469:c.*53T>C,NM_001145335:c.*53T>C NA NA UTR3 ENSG00000140367 ENST00000338677:c.*24T>C,ENST00000267938:c.*53T>C,ENST00000569423:c.*53T>C,ENST00000561851:c.*53T>C,ENST00000426727:c.*24T>C,ENST00000567921:c.*136T>C NA NA Score=534;Name=lod=197 NA 15q24.2 NA NA NA NA rs335688 0.99 0.99 0.984 0.989617 1 1 1 0.9622 0.998 1 1 1 0.95 0.9967 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.373656 4.373656 NA 0.999685 0.967201 NA 0.92 NA 2.3369484 1426 6 125144352 125144352 T G intronic NKAIN2 NA NA NA intronic ENSG00000188580 NA NA NA NA NA 6q22.31 NA NA NA NA rs2025251 0.4 0.4 0.369 0.367812 0.5656 0.4395 0.4827 0.0371 0.456 0.56 0.43 0.47 0.05 0.5104 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.604276 NA NA 0.587326 0.134135 NA 0.326 NA 2.336674 1426 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 1426 19 990819 990819 G A intronic WDR18 NA NA NA intronic ENSG00000065268 NA NA NA NA NA 19p13.3 NA NA NA NA rs2240149 0.42 0.42 0.389 0.380192 0.5984 0.3204 0.4366 0.2595 0.3405 0.59 0.28 0.42 0.3 0.4982 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.402942 NA NA 0.566993 0.294386 NA 0.435 NA 2.336407 1426 2 33413949 33413949 G A intronic LTBP1 NA NA NA intronic ENSG00000049323 NA NA NA NA NA 2p22.3 NA NA NA NA rs4542826 0.53 0.53 0.537 0.495008 0.5596 0.4038 0.5274 0.5749 0.3916 0.55 0.43 0.54 0.6 0.5418 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.260484 NA NA 0.562558 0.581026 NA 0.442 NA 2.336042 1426 11 67050292 67050292 G A intronic ADRBK1 NA NA NA intronic ENSG00000173020 NA NA NA Score=429;Name=lod=74 NA 11q13.2 NA NA NA NA rs2071007 0.66 0.66 0.657 0.65016 0.9195 0.7421 0.5994 0.1823 0.9468 0.91 0.73 0.68 0.19 0.8197 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 0.309802 NA NA 0.925378 0.327727 NA 0.623 NA 2.335422 1427 19 19451591 19451591 A G intronic MAU2 NA NA NA intronic ENSG00000129933 NA NA NA NA NA 19p13.11 NA NA NA NA rs2965190 0.85 0.85 0.823 0.844449 0.827 1 0.8703 0.708 0.8681 0.85 1 0.86 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 0.187287 NA NA 0.838152 0.719653 NA 0.833 NA 2.334848 1427 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 1427 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 1427 17 1377878 1377878 T C intronic MYO1C NA NA NA intronic ENSG00000197879 NA NA NA NA NA 17p13.3 NA Name=PAX5-C20 NA NA rs2286871 0.83 0.83 0.832 0.811901 0.9046 0.626 0.8112 0.9244 0.7566 0.89 0.64 0.86 0.92 0.8523 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 1.507818 1.507818 NA 0.908837 0.917385 NA 0.841 NA 2.334263 1427 18 57115203 57115203 T C intronic CCBE1 NA NA NA intronic ENSG00000183287 NA NA NA NA NA 18q21.32 NA NA NA NA rs1893788 0.54 0.54 0.55 0.540935 0.5706 0.3244 0.5591 0.7277 0.4683 0.56 0.35 0.57 0.73 0.5311 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 0.284289 NA NA 0.564419 0.700409 NA 0.464 NA 2.333881 1427 2 20871190 20871190 A C UTR3 GDF7 NM_182828:c.*5A>C NA NA UTR3 ENSG00000143869 ENST00000272224:c.*5A>C NA NA Score=719;Name=lod=1117 NA 2p24.1 NA NA NA NA rs4666457 1 1 0.996 0.999002 1 1 1 0.9962 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 2.886407 2.886407 NA 1 0.990758 NA 0.949 NA 2.3338334 1427 19 55439166 55439166 T C intronic NLRP7 NA NA NA intronic ENSG00000167634 NA NA NA NA NA 19q13.42 NA NA NA NA rs269933 0.58 0.58 0.54 0.592652 0.5298 0.7004 0.6124 0.5469 0.5941 0.52 0.73 0.57 0.51 0.5813 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 -0.694798 NA NA 0.555116 0.529278 NA 0.58 NA 2.333784 1427 1 158153996 158153996 T C UTR3 CD1D NM_001766:c.*56T>C NA NA UTR3 ENSG00000158473 ENST00000368171:c.*56T>C NA NA NA NA 1q23.1 NA NA NA NA rs426336 0.99 0.99 0.989 0.99361 1 1 1 0.9758 1 1 1 1 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 -0.245449 NA NA 0.999686 0.983382 NA 0.993 NA 2.3336474 1427 15 41476101 41476101 T C UTR3 EXD1 NM_152596:c.*28A>G NA NA UTR3 ENSG00000178997 ENST00000314992:c.*28A>G,ENST00000458580:c.*28A>G NA NA NA NA 15q15.1 NA NA Name=30 NA rs521088 1 1 0.997 0.999002 1 1 1 0.9962 1 1 1 1 0.99 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.342531 NA NA 1 0.997276 NA 1 NA 2.3336334 1427 7 130138155 130138155 A G intronic MEST NA NA NA ncRNA_exonic ENSG00000270823 NA NA NA NA NA 7q32.2 NA NA NA NA rs6968284 1 1 1 1 1 1 1 1 1 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 0.463782 NA NA NA NA NA 1 NA 2.3333333 1427 11 18044304 18044304 C T intronic TPH1 NA NA NA ncRNA_intronic ENSG00000255448 NA NA NA NA NA 11p15.1 NA NA NA NA rs211101 1 1 1 1 1 1 1 1 1 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 -0.684522 NA NA NA NA NA 1 NA 2.3333333 1427 5 79773028 79773028 T G intronic ZFYVE16 NA NA NA intronic ENSG00000039319 NA NA NA NA NA 5q14.1 Score=777;Name=V$PAX6_01 NA NA NA rs166062 0.8 0.8 0.777 0.764976 0.8936 0.9157 0.8718 0.4554 0.82 0.89 0.93 0.87 0.46 0.8677 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 1.308122 1.308122 NA 0.905581 0.488879 NA 0.739 NA 2.333119 1427 16 424420 424420 C G intronic TMEM8A NA NA NA intronic ENSG00000129925 NA NA NA NA NA 16p13.3 NA NA NA NA rs3743888 0.5 0.5 0.524 0.533946 0.5417 0.3016 0.4769 0.6104 0.7025 0.55 0.29 0.5 0.68 0.5547 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.384465 NA NA 0.571612 0.616438 NA 0.406 NA 2.331988 1427 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 1427 19 51519451 51519451 T C intronic KLK10 NA NA NA intronic ENSG00000129451 NA NA NA NA NA 19q13.41 NA NA NA NA rs2075687 0.6 0.6 0.591 0.604433 0.5577 0.5367 0.6225 0.8623 0.3609 0.56 0.5 0.61 0.78 0.5549 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 -0.254783 NA NA 0.556294 0.827264 NA 0.616 NA 2.331106 1427 1 93602194 93602194 C T intronic MTF2 NA NA NA intronic ENSG00000143033 NA NA NA NA NA 1p22.1 NA Name=MafK_(ab50322),MafF_(M8194),MafK_(SC-477) NA NA rs2281524 0.86 0.86 0.866 0.846845 0.9135 0.7024 0.8213 0.9629 0.7883 0.92 0.72 0.84 0.95 0.8636 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 -1.960473 NA NA 0.892533 0.945983 NA 0.819 NA 2.330367 1427 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 1427 16 11859341 11859341 A G intronic ZC3H7A NA NA NA intronic ENSG00000122299 NA NA NA NA NA 16p13.13 NA NA NA NA rs7199993 0.71 0.71 0.724 0.74381 0.5219 0.8601 0.6455 0.8654 0.7577 0.52 0.85 0.67 0.87 0.613 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 0.910859 NA NA 0.535233 0.810337 NA 0.667 NA 2.329867 1427 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 1427 3 9036010 9036010 T G intronic SRGAP3 NA NA NA intronic ENSG00000196220 NA NA NA NA NA 3p25.3 NA NA NA NA rs637172 0.54 0.54 0.548 0.583267 0.5417 0.381 0.6441 0.6899 0.6472 0.55 0.41 0.58 0.67 0.5619 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 -0.181141 NA NA 0.56686 0.657739 NA 0.565 NA 2.32954 1427 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 1427 10 16556710 16556710 T C intronic C1QL3 NA NA NA intronic ENSG00000165985 NA NA NA NA NA 10p13 NA NA NA NA rs7909832 0.57 0.57 0.583 0.589058 0.5487 0.5188 0.5951 0.6899 0.5624 0.54 0.51 0.59 0.68 0.5623 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.124955 NA NA 0.56013 0.667045 NA 0.5 NA 2.32887 1427 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 1427 7 4214041 4214041 C T intronic SDK1 NA NA NA intronic ENSG00000146555 NA NA NA NA NA 7p22.2 NA NA NA NA rs4723445 0.59 0.59 0.542 0.564297 0.5567 0.7649 0.6138 0.388 0.5685 0.57 0.76 0.62 0.42 0.5796 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 -0.759667 NA NA 0.535297 0.458553 NA 0.58 NA 2.328403 1427 1 160920809 160920809 A G intronic ITLN2 NA NA NA intronic ENSG00000158764 NA NA NA NA NA 1q23.3 NA NA NA NA rs3829790 0.51 0.51 0.452 0.480431 0.5736 0.5694 0.6239 0.2383 0.5184 0.57 0.61 0.61 0.25 0.5377 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.256033 NA NA 0.560349 0.296414 ID=COSN163301;OCCURENCE=1(NS) 0.5 NA 2.328351 1427 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 1427 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 1427 16 57499841 57499841 A G intronic POLR2C NA NA NA intronic ENSG00000102978 NA NA NA NA NA 16q21 NA NA NA NA rs223839 0.51 0.51 0.5 0.491414 0.5626 0.4821 0.4841 0.5212 0.3926 0.56 0.44 0.5 0.52 0.525 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.714704 NA NA 0.586163 0.50182 NA 0.428 NA 2.326237 1427 1 86246849 86246849 A C intronic COL24A1 NA NA NA intronic ENSG00000171502 NA NA NA NA NA 1p22.3 NA NA NA NA rs313722 0.76 0.76 0.732 0.723043 0.839 0.7788 0.7233 0.562 0.7638 0.84 0.8 0.74 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 1.642967 1.642967 NA 0.834802 0.601156 NA 0.826 NA 2.326198 1427 4 71255593 71255593 G A UTR3 SMR3B NM_006685:c.*28G>A NA NA UTR3 ENSG00000171201 ENST00000504825:c.*28G>A,ENST00000304915:c.*28G>A NA NA NA NA 4q13.3 NA NA NA NA rs2988 0.69 0.69 0.686 0.674521 0.6789 0.5942 0.6974 0.7685 0.6094 0.68 0.62 0.68 0.77 0.6737 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 0.645942 NA NA 0.655698 0.756241 NA 0.754 NA 2.3250354 1428 11 64497189 64497189 A C intronic RASGRP2 NA NA NA intronic ENSG00000068831 NA NA NA NA NA 11q13.1 NA NA NA NA rs533515 0.69 0.69 0.763 0.00239617 0.001 0.001 0.0029 NA 0.0082 0.87 0.64 0.68 0.47 0.7763 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 -0.507665 NA NA 0.897719 0.508632 NA 0.638 NA 2.324981 1428 7 101740606 101740606 T G intronic CUX1 NA NA NA intronic ENSG00000257923 NA NA NA NA NA 7q22.1 NA NA NA NA rs1637257 0.47 0.47 0.465 0.484225 0.5527 0.0575 0.4395 0.8238 0.4264 0.56 0.06 0.49 0.82 0.5272 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 0.920297 NA NA 0.595233 0.790286 NA 0.667 NA 2.324867 1428 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 1428 9 137714027 137714027 T C intronic COL5A1 NA NA NA intronic ENSG00000130635 NA NA NA NA NA 9q34.3 NA NA NA NA rs9697186 0.6 0.6 0.622 0.609425 0.5338 0.498 0.513 0.907 0.4683 0.54 0.49 0.5 0.91 0.5659 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 -0.016405 NA NA 0.575465 0.846346 ID=COSN168705;OCCURENCE=1(large_intestine) 0.703 NA 2.324835 1428 8 8176825 8176825 A G intronic SGK223 NA NA NA intronic ENSG00000182319 NA NA NA NA NA 8p23.1 NA NA NA NA rs6601691 0.53 0.53 0.541 0.495008 0.5437 0.5665 0.5216 0.4213 0.4519 0.55 0.62 0.47 0.44 0.5522 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.420231 NA NA 0.579317 0.493184 NA 0.486 NA 2.324783 1428 7 101740610 101740610 C A intronic CUX1 NA NA NA intronic ENSG00000257923 NA NA NA NA NA 7q22.1 NA NA NA NA rs1734879 0.47 0.47 0.466 0.484225 0.5527 0.0575 0.4395 0.8238 0.4264 0.56 0.06 0.49 0.82 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 0.110221 NA NA 0.595116 0.790286 NA 0.667 NA 2.324684 1428 8 21937870 21937870 G A intronic EPB49 NA NA NA intronic ENSG00000158856 NA NA NA NA NA 8p21.3 NA NA NA NA rs7835670 0.81 0.81 0.811 0.785743 0.832 0.9762 0.7954 0.5666 0.8313 0.83 0.98 0.8 0.59 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 1.631233 1.631233 NA 0.843495 0.641618 NA 0.783 NA 2.324505 1428 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 1428 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 1428 9 114489887 114489887 C T intronic C9orf84 NA NA NA intronic ENSG00000165181 NA NA NA NA NA 9q31.3 NA NA NA NA rs953536 0.63 0.63 0.601 0.608826 0.5487 0.878 0.647 0.4493 0.5818 0.55 0.86 0.65 0.47 0.5947 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 -0.043854 NA NA 0.533031 0.45498 NA 0.536 NA 2.323569 1428 3 138433568 138433568 C T intronic PIK3CB NA NA NA intronic ENSG00000051382 NA NA NA NA NA 3q22.3 NA NA NA NA rs497900 0.7 0.7 0.692 0.701877 0.5199 0.9841 0.696 0.6445 0.68 0.53 0.98 0.65 0.65 0.6224 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 -0.172726 NA NA 0.534194 0.611212 NA 0.543 NA 2.323506 1428 9 135862632 135862632 C T intronic GFI1B NA NA NA intronic ENSG00000165702 NA NA NA NA NA 9q34.13 NA NA NA NA rs633153 0.47 0.47 0.459 0.483227 0.5924 0.3869 0.6081 0.3094 0.6166 0.62 0.37 0.56 0.31 0.5352 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.875408 NA NA 0.54907 0.335906 NA 0.587 NA 2.32333 1428 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 1428 19 48646883 48646883 T C intronic LIG1 NA NA NA intronic ENSG00000105486 NA NA NA NA NA 19q13.33 NA NA NA NA rs2288878 0.7 0.7 0.704 0.694888 0.5616 0.875 0.5648 0.8116 0.5808 0.55 0.87 0.6 0.83 0.5835 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 0.124137 NA NA 0.532209 0.766682 NA 0.732 NA 2.322691 1428 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 1428 14 24910876 24910876 G A intronic SDR39U1 NA NA NA intronic ENSG00000100445 NA NA NA Score=501;Name=lod=145 NA 14q12 NA NA NA NA rs11158703 0.8 0.8 0.783 0.764976 0.9036 0.8383 0.8516 0.4667 0.8885 0.92 0.83 0.86 0.54 0.8616 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 2.093337 2.093337 NA 0.912317 0.546776 NA 0.783 NA 2.322483 1428 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 1428 2 120197670 120197670 G A UTR3 SCTR NM_002980:c.*23C>T NA NA UTR3 ENSG00000080293 ENST00000019103:c.*23C>T NA NA NA NA 2q14.2 NA NA NA NA rs1042656 0.61 0.61 0.592 0.551118 0.6879 0.5565 0.7089 0.3699 0.5378 0.69 0.63 0.73 0.39 0.636 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 -1.006773 NA NA 0.687907 0.397413 NA 0.464 NA 2.3215264 1428 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 1428 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 1428 8 144399885 144399885 A C intronic TOP1MT NA NA NA intronic ENSG00000184428 NA NA NA NA NA 8q24.3 NA NA NA NA rs2272637 0.54 0.54 0.502 0.575679 0.5497 0.752 0.7104 0.2791 0.726 0.51 0.77 0.65 0.25 0.5805 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 -0.202301 NA NA 0.549884 0.293143 NA NA NA 2.319916 1428 8 144399886 144399886 G T intronic TOP1MT NA NA NA intronic ENSG00000184428 NA NA NA NA NA 8q24.3 NA NA NA NA rs2272636 0.54 0.54 0.495 0.575679 0.5497 0.752 0.7104 0.2791 0.726 0.52 0.77 0.65 0.24 0.5802 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 -0.492646 NA NA 0.550233 0.294732 NA NA NA 2.319867 1428 6 151857594 151857594 A G intronic CCDC170 NA NA NA intronic ENSG00000120262 NA NA NA NA NA 6q25.1 NA NA NA NA rs6931664 0.38 0.38 0.347 0.345647 0.5924 0.2143 0.4669 0.1293 0.4335 0.59 0.24 0.5 0.15 0.5068 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103986 NA NA 0.58137 0.190961 NA 0.471 NA 2.31943 1428 2 71906171 71906171 T C intronic DYSF NA NA NA intronic ENSG00000135636 NA NA NA NA NA 2p13.2 NA NA NA NA rs1863812 0.88 0.88 0.87 0.878195 0.8966 0.7609 0.8876 0.9856 0.8282 0.9 0.77 0.87 0.98 0.8851 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 0.320342 NA NA 0.898953 0.970041 NA 0.862 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000080313.1;CLNDSDB=.;CLNDSDBID=. 2.319347 1428 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 1428 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 1428 8 144398132 144398132 T C intronic TOP1MT NA NA NA intronic ENSG00000184428 NA NA NA NA NA 8q24.3 NA NA NA NA rs2293927 0.57 0.57 0.515 0.577875 0.5497 0.7619 0.7118 0.2791 0.726 0.55 0.8 0.69 0.26 0.581 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 -0.641667 NA NA 0.551977 0.296187 NA 0.58 NA 2.317323 1428 14 105344318 105344318 G A intronic CEP170B NA NA NA intronic ENSG00000099814 NA NA NA NA NA 14q32.33 NA NA NA NA rs2304758 0.35 0.35 0.338 0.341454 0.5716 0.1994 0.513 0.0885 0.4714 0.58 0.17 0.51 0.11 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 0.117993 NA NA 0.575071 0.176188 NA 0.225 NA 2.317229 1428 1 145555653 145555653 C T intronic ANKRD35,NBPF10 NA NA NA intronic ENSG00000198483 NA NA NA NA NA 1q21.1 NA NA NA NA rs6424379 0.44 0.44 0.403 0.40655 0.5775 0.3085 0.4553 0.3903 0.319 0.57 0.28 0.48 0.4 0.5129 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.834127 NA NA 0.592442 0.430549 NA 0.442 NA 2.317158 1428 X 16762002 16762002 A G intronic SYAP1 NA NA NA intronic ENSG00000169895 NA NA NA NA NA Xp22.2 NA NA NA NA rs4830562 0.86 0.86 0.86089 NA NA NA NA NA NA 0.83 0.94 0.82 0.86 0.8406 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 0.045858 NA NA 0.842301 0.873533 NA 0.696 NA 2.317099 1428 22 43218463 43218463 C T intronic ARFGAP3 NA NA NA intronic ENSG00000242247 NA NA NA NA NA 22q13.2 NA NA NA NA rs5758957 0.67 0.67 0.664 0.691893 0.5417 0.6369 0.7378 0.8873 0.6063 0.53 0.65 0.73 0.86 0.5961 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 -0.210509 NA NA 0.545233 0.830232 NA 0.667 NA 2.316967 1428 1 111861714 111861714 T A intronic CHIA NA NA NA ncRNA_intronic ENSG00000229283 NA NA NA NA NA 1p13.2 NA NA NA NA rs2786161 0.58 0.58 0.605 0.623602 0.6948 0.4732 0.4135 0.6929 0.7607 0.7 0.42 0.49 0.64 0.6365 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 1.200621 NA NA 0.685116 0.675976 NA 0.732 NA 2.3169173 1428 1 17303589 17303589 C T intronic MFAP2 NA NA NA intronic ENSG00000117122 NA NA NA NA NA 1p36.13 NA NA NA NA rs2235932 0.39 0.39 0.362 0.376797 0.5795 0.2331 0.4914 0.2224 0.4438 0.57 0.26 0.48 0.2 0.5106 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.360775 NA NA 0.593256 0.278711 NA 0.464 NA 2.316644 1428 15 50885976 50885976 G T intronic TRPM7 NA NA NA intronic ENSG00000092439 NA NA NA NA NA 15q21.2 NA NA NA NA rs567109 0.57 0.57 0.57 0.570687 0.5616 0.6111 0.6009 0.556 0.5368 0.55 0.58 0.58 0.58 0.5589 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.440437 NA NA 0.563053 0.543322 NA 0.587 NA 2.316447 1428 12 96653501 96653501 C T intronic ELK3 NA NA NA intronic ENSG00000111145 NA NA NA NA NA 12q23.1 NA NA Name=2 NA rs4762144 0.91 0.91 0.914 0.921925 0.8936 0.9504 0.8977 0.9002 0.9683 0.9 0.96 0.88 0.9 0.904 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 -0.323007 NA NA 0.886395 0.913527 ID=COSM147582;OCCURENCE=1(stomach) 0.935 NA 2.316005 1428 6 572480 572480 G A intronic EXOC2 NA NA NA intronic ENSG00000112685 NA NA NA NA NA 6p25.3 NA NA NA NA rs2073009 0.49 0.49 0.448 0.497005 0.5795 0.3532 0.6729 0.3563 0.6258 0.57 0.38 0.63 0.38 0.5345 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.473414 NA NA 0.57 0.370177 NA 0.572 NA 2.316 1428 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 1428 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 1429 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 1429 6 39869066 39869066 G C intronic DAAM2 NA NA NA intronic ENSG00000124615,ENSG00000146122 NA NA NA NA NA 6p21.2 NA NA NA NA rs882559 0.59 0.59 0.555 0.621406 0.5547 0.5853 0.5692 0.7216 0.6288 0.55 0.6 0.53 0.68 0.5797 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.038702 NA NA 0.551105 0.701503 NA 0.739 NA 2.314495 1429 10 3155540 3155540 A G intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA Name=BCL3 NA NA rs4881085 0.87 0.87 0.872 0.869409 0.9046 0.9762 0.8761 0.7012 0.9458 0.91 0.98 0.86 0.71 0.8881 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 -0.429508 NA NA 0.893256 0.692465 NA 0.877 NA 2.314044 1429 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 1429 3 9034558 9034558 C T intronic SRGAP3 NA NA NA intronic ENSG00000196220 NA NA NA NA NA 3p25.3 NA NA NA NA rs511815 0.61 0.61 0.624 0.654752 0.5417 0.3542 0.6585 0.9758 0.6442 0.55 0.39 0.6 0.96 0.5803 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 0.485319 NA NA 0.565 0.891966 NA 0.667 NA 2.313 1429 2 241702561 241702561 T A intronic KIF1A NA NA NA intronic ENSG00000130294 NA NA NA NA NA 2q37.3 NA NA NA NA rs11688298 0.62 0.62 0.657 0.602436 0.5805 0.6964 0.5144 0.7254 0.4243 0.58 0.67 0.49 0.73 0.5463 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 -1.839923 NA NA 0.560275 0.688124 NA 0.652 NA 2.312925 1429 3 20017490 20017490 G C intronic RAB5A NA NA NA intronic ENSG00000144566 NA NA NA NA NA 3p24.3 NA NA NA NA rs4858121 0.35 0.35 0.377 0.375799 0.5686 0.1558 0.464 0.3487 0.3783 0.51 0.15 0.42 0.3 0.5067 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.683882 NA NA 0.612326 0.419201 NA NA NA 2.312374 1429 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 1429 22 36708084 36708084 C T intronic MYH9 NA NA NA intronic ENSG00000100345 NA NA NA NA NA 22q12.3 NA NA NA NA rs2413396 0.81 0.81 0.754 0.760783 0.9066 0.9028 0.9092 0.3533 0.91 0.9 0.93 0.91 0.45 0.8714 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 -0.401511 NA NA 0.912209 0.449614 NA 0.688 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037548.1;CLNDSDB=.;CLNDSDBID=. 2.309791 1429 11 83810113 83810113 T G intronic DLG2 NA NA NA intronic ENSG00000150672 NA NA NA Score=295;Name=lod=21 NA 11q14.1 NA NA NA NA rs3750917 0.78 0.78 0.785 0.763379 0.9115 0.752 0.7695 0.5961 0.8446 0.9 0.74 0.79 0.61 0.8541 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 3.876525 3.876525 NA 0.92542 0.665333 NA 0.826 NA 2.30898 1429 7 73472050 73472050 C T intronic ELN NA NA NA intronic ENSG00000049540 NA NA NA NA NA 7q11.23 NA NA NA NA rs28763986 0.64 0.64 0.625 0.654353 0.5586 0.6875 0.5634 0.7216 0.6922 0.59 0.7 0.54 0.72 0.5933 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27936 NA NA 0.539223 0.703317 NA 0.609 NA 2.308877 1429 22 50719165 50719165 T C intronic PLXNB2 NA NA NA intronic ENSG00000196576 NA NA NA NA NA 22q13.33 NA NA NA NA rs28540713 0.55 0.55 0.505 0.563898 0.5606 0.4226 0.5187 0.646 0.6339 0.57 0.47 0.5 0.64 0.5917 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.206851 NA NA 0.539931 0.628705 NA 0.283 NA 2.307769 1429 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 1429 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 1429 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 1429 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 1429 19 44511202 44511202 A T UTR5 ZNF230 NM_006300:c.-29A>T NA NA UTR5 ENSG00000159882 ENST00000429154:c.-29A>T,ENST00000585568:c.-29A>T,ENST00000585632:c.-29A>T,ENST00000585491:c.-29A>T NA NA NA NA 19q13.31 NA NA NA NA rs2356549 0.54 0.54 0.557 0.529952 0.7048 0.2917 0.3991 0.5023 0.726 0.72 0.32 0.46 0.55 0.6203 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144113 NA NA 0.703023 0.536314 NA 0.594 NA 2.3052104 1430 1 26609307 26609307 G T intronic UBXN11 NA NA NA intronic ENSG00000158062 NA NA NA NA NA 1p36.11 NA Name=Egr-1 NA NA rs6598952 0.76 0.76 0.802 0.726238 0.9304 0.4583 0.6945 0.8812 0.6053 0.93 0.47 0.73 0.85 0.8272 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 0.683635 NA NA 0.937485 0.880851 NA 0.79 NA 2.304915 1430 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 1430 10 73499561 73499561 C G intronic CDH23 NA NA NA intronic ENSG00000107736 NA NA NA NA NA 10q22.1 NA NA NA NA rs10762474 0.43 0.43 0.421 0.415935 0.5954 0.2708 0.3775 0.3616 0.4816 0.59 0.27 0.43 0.35 0.5074 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947085 NA NA 0.593292 0.43609 NA 0.413 NA 2.303908 1430 12 50393372 50393372 G T intronic RACGAP1 NA NA NA intronic ENSG00000161800 NA NA NA Score=289;Name=lod=20 NA 12q13.12 NA NA NA NA rs378943 0.75 0.75 0.704 0.691294 0.9314 0.9246 0.8012 0.18 0.817 0.93 0.91 0.85 0.24 0.8454 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 3.290094 3.290094 NA 0.919535 0.285974 NA 0.594 NA 2.303665 1430 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 1430 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 1430 14 22320728 22320728 T C intergenic OR4E2,DAD1 dist=186490;dist=713079 NA NA upstream ENSG00000211787 NA NA NA NA NA 14q11.2 NA NA NA NA rs2017224 0.43 0.43 0.398 0.451078 0.3777 0.376 0.5187 0.528 0.4519 0.37 0.38 0.5 0.51 0.4279 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.539389 NA NA 0.391156 0.518368 ID=COSN164621;OCCURENCE=1(breast) 0.413 NA 2.303244 1430 16 88780518 88780518 A G intronic CTU2 NA NA NA intronic ENSG00000174177 NA NA NA NA NA 16q24.3 NA NA Name=24 NA rs3826076 0.87 0.87 0.866 0.860623 0.8936 0.9395 0.8487 0.7882 0.8517 0.89 0.95 0.87 0.76 0.8901 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 -0.816121 NA NA 0.913135 0.808588 NA 0.819 NA 2.303165 1430 16 84872051 84872051 G C UTR5 CRISPLD2 NM_031476:c.-51G>C NA NA UTR5 ENSG00000103196 ENST00000262424:c.-51G>C,ENST00000566151:c.-51G>C,ENST00000567845:c.-51G>C,ENST00000564567:c.-51G>C,ENST00000569090:c.-51G>C NA NA NA NA 16q24.1 NA NA NA NA rs1546124 0.64 0.64 0.637 0.659944 0.6918 0.4415 0.719 0.7481 0.6912 0.71 0.42 0.7 0.73 0.6719 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 0.823095 NA NA 0.667209 0.752387 NA 0.645 NA 2.3024244 1430 5 55179052 55179052 A T intronic IL31RA NA NA NA intronic ENSG00000164509 NA NA NA NA NA 5q11.2 NA NA NA NA rs10940491 0.57 0.57 0.597 0.601438 0.5567 0.3859 0.4107 0.8752 0.635 0.56 0.4 0.48 0.86 0.5672 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 -0.020906 NA NA 0.573721 0.836739 NA 0.601 NA 2.302379 1430 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 1430 10 113920652 113920652 T C intronic GPAM NA NA NA intronic ENSG00000119927 NA NA NA NA NA 10q25.2 NA NA NA NA rs3824626 0.55 0.55 0.546 0.554113 0.5427 0.6012 0.4553 0.528 0.6227 0.54 0.59 0.46 0.57 0.5683 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.463475 NA NA 0.587113 0.504312 NA 0.558 NA 2.301887 1430 10 20506326 20506326 T C intronic PLXDC2 NA NA NA intronic ENSG00000120594 NA NA NA NA NA 10p12.31 NA NA NA NA rs12783379 0.39 0.39 0.386 0.371406 0.6044 0.2669 0.3285 0.2126 0.4847 0.6 0.29 0.33 0.2 0.5095 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.310608 NA NA 0.585581 0.273491 NA 0.457 NA 2.300519 1430 1 987200 987200 C T intronic AGRN NA NA NA intronic ENSG00000188157 NA NA NA NA NA 1p36.33 NA NA NA NA rs9803031 0.81 0.81 0.777 0.788738 0.9145 0.9931 0.8876 0.4017 0.9018 0.91 1 0.89 0.37 0.8757 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.221241 NA NA 0.909979 0.457974 NA 0.703 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116279.1;CLNDSDB=.;CLNDSDBID=. 2.299821 1430 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 1430 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 1430 19 8168399 8168399 G A intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs4289098 0.38 0.38 0.375 0.334265 0.5984 0.2093 0.4049 0.1853 0.3425 0.6 0.21 0.43 0.19 0.4911 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.369021 NA NA 0.611512 0.25034 NA 0.384 NA 2.298988 1430 2 63609017 63609017 A T intronic WDPCP NA NA NA intronic ENSG00000143951 NA NA NA NA NA 2p15 NA NA NA NA rs2138796 0.52 0.52 0.509 0.491414 0.5706 0.3512 0.6354 0.5189 0.4151 0.57 0.38 0.59 0.55 0.5579 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.367057 NA NA 0.572952 0.546053 NA 0.63 NA 2.298548 1430 8 59411042 59411042 G A intronic CYP7A1 NA NA NA intronic ENSG00000167910 NA NA NA NA NA 8q12.1 NA NA NA NA rs2162459 0.51 0.51 0.482 0.489617 0.5577 0.3958 0.7032 0.3888 0.501 0.58 0.44 0.66 0.39 0.554 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 1.725152 1.725152 NA 0.59093 0.422152 NA 0.486 NA 2.29737 1430 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 1430 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 1430 12 27533367 27533367 A G intronic ARNTL2 NA NA NA intronic ENSG00000029153 NA NA NA NA NA 12p11.23 NA NA NA NA rs4964060 0.43 0.43 0.378 0.410144 0.5646 0.3284 0.7075 0.1755 0.4417 0.56 0.31 0.69 0.17 0.5487 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 -0.954805 NA NA 0.590349 0.238311 NA 0.384 NA 2.296351 1430 13 95275576 95275576 C G intronic GPR180 NA NA NA intronic ENSG00000152749 NA NA NA NA NA 13q32.1 NA NA NA NA rs4296139 0.57 0.57 0.613 0.591653 0.5706 0.3284 0.4481 0.9539 0.4969 0.56 0.31 0.48 0.94 0.5566 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 0.752988 NA NA 0.576512 0.879256 NA 0.667 NA 2.296288 1430 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 1430 6 43269029 43269029 A C intronic SLC22A7 NA NA NA intronic ENSG00000137204,ENSG00000146215 NA NA NA NA NA 6p21.1 NA NA NA NA rs1574430 0.46 0.46 0.435 0.420327 0.5765 0.625 0.5043 0.028 0.5194 0.58 0.65 0.5 0.02 0.5406 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.431654 NA NA 0.587674 0.124603 NA 0.362 NA 2.295226 1430 1 156785617 156785617 G A UTR5 NTRK1 NM_001007792:c.-5G>A NA NA UTR5 ENSG00000198400 ENST00000392302:c.-5G>A,ENST00000497019:c.-5G>A NA NA NA NA 1q23.1 NA NA NA NA rs1800601 0.67 0.67 0.671 0.636981 0.6948 0.8135 0.6657 0.444 0.636 0.69 0.81 0.69 0.45 0.6674 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 0.025862 NA NA 0.67593 0.504085 NA 0.609 NA 2.2952034 1431 11 47380593 47380593 G A intronic SPI1 NA NA NA intronic ENSG00000066336 NA NA NA NA NA 11p11.2 NA NA NA NA rs3740689 0.42 0.42 0.393 0.427516 0.5746 0.4831 0.5101 0.0764 0.635 0.57 0.45 0.5 0.08 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 0.524336 NA NA 0.590569 0.162471 NA 0.522 NA 2.294831 1431 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 1431 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 1431 12 119568670 119568670 C A intronic SRRM4 NA NA NA intronic ENSG00000139767 NA NA NA NA NA 12q24.23 NA NA NA NA rs7298583 0.56 0.56 0.538 0.571885 0.5636 0.5883 0.6225 0.4818 0.6493 0.58 0.59 0.61 0.48 0.5742 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.97904 1.97904 NA 0.568044 0.505581 NA 0.5 NA 2.294156 1431 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 1431 13 35252882 35252882 T C intergenic LINC00457,NBEA dist=38060;dist=263542 NA NA intergenic ENSG00000271901,ENSG00000261728 dist=7563;dist=247089 NA NA NA NA 13q13.2 NA NA NA NA rs9572094 0.42 0.42 0.413 0.416334 0.341 0.5258 0.5 0.4085 0.3323 0.32 0.49 0.47 0.45 0.3788 0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.507515 NA NA 0.319437 0.414954 NA 0.377 NA 2.2940964 1431 3 123021870 123021870 G C intronic ADCY5 NA NA NA intronic ENSG00000173175 NA NA NA NA NA 3q21.1 NA NA NA NA rs9844212 0.46 0.46 0.466 0.441693 0.5905 0.2788 0.4308 0.4614 0.4376 0.59 0.25 0.49 0.5 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 -0.504232 NA NA 0.588953 0.487063 NA 0.464 NA 2.293547 1431 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 1431 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 1431 3 120371414 120371414 G A intronic HGD NA NA NA intronic ENSG00000113924 NA NA NA NA NA 3q13.33 NA NA Name=6 NA rs2551607 0.86 0.86 0.835 0.83107 0.9215 0.9851 0.902 0.5734 0.8773 0.92 0.99 0.91 0.58 0.8891 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 1.453556 1.453556 NA 0.897114 0.638675 NA 0.804 NA 2.292286 1431 18 691173 691173 G A intronic ENOSF1 NA NA NA intronic ENSG00000132199 NA NA NA NA NA 18p11.32 NA NA NA NA rs2612087 0.64 0.64 0.675 0.655351 0.5606 0.6806 0.611 0.8056 0.5552 0.54 0.68 0.57 0.8 0.5931 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 -0.452719 NA NA 0.55407 0.791648 NA 0.703 NA 2.29223 1431 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 1431 4 169317081 169317081 C A intronic DDX60L NA NA NA intronic ENSG00000181381 NA NA NA NA NA 4q32.3 NA NA NA NA rs1826028 0.56 0.56 0.517 0.557109 0.5596 0.623 0.6095 0.475 0.5603 0.55 0.63 0.61 0.46 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 -0.491563 NA NA 0.587331 0.522026 NA 0.543 NA 2.291469 1431 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 1431 1 17405949 17405949 C T intronic PADI2 NA NA NA intronic ENSG00000117115 NA NA NA NA NA 1p36.13 NA NA NA NA rs2057094 0.53 0.53 0.543 0.504792 0.5736 0.3879 0.5533 0.5461 0.4642 0.58 0.43 0.55 0.56 0.556 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.662765 2.662765 NA 0.579767 0.549251 NA 0.616 NA 2.290633 1431 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 1431 22 40055896 40055896 T C intronic CACNA1I NA NA NA intronic ENSG00000100346 NA NA NA NA NA 22q13.1 NA NA NA NA rs136851 0.74 0.74 0.721 0.739018 0.5527 0.994 0.7378 0.7995 0.5869 0.54 1 0.7 0.76 0.6244 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.816555 NA NA 0.53347 0.761323 NA 0.746 NA 2.28943 1431 2 24194314 24194314 C T intronic UBXN2A NA NA NA intronic ENSG00000173960 NA NA NA NA NA 2p23.3 NA NA NA NA rs1533440 0.58 0.58 0.556 0.576278 0.5537 0.7768 0.7075 0.3283 0.635 0.55 0.82 0.65 0.3 0.5962 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 -0.414252 NA NA 0.560712 0.356786 NA 0.514 NA 2.289388 1431 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 1431 4 109766290 109766290 T G intronic COL25A1 NA NA NA intronic ENSG00000188517 NA NA NA NA NA 4q25 NA NA NA NA rs11098004 0.83 0.83 0.828 0.840056 0.8509 0.8492 0.866 0.7572 0.9131 0.86 0.86 0.86 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 0.973365 NA NA 0.860465 0.767341 NA 0.899 NA 2.288635 1431 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 1431 8 27291557 27291557 T C intronic PTK2B NA NA NA intronic ENSG00000120899 NA NA NA NA NA 8p21.2 NA NA NA NA rs919493 0.74 0.74 0.745 0.767772 0.8509 0.5585 0.8112 0.7882 0.8395 0.86 0.49 0.81 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 -0.060094 NA NA 0.860779 0.812861 NA 0.819 NA 2.288321 1431 16 2882197 2882197 G T UTR3 ZG16B NM_145252:c.*37G>T NA NA UTR3 ENSG00000162078 ENST00000382280:c.*37G>T,ENST00000572863:c.*37G>T NA NA NA NA 16p13.3 NA NA NA NA rs12373 0.61 0.61 0.586 0.607628 0.6859 0.6687 0.6369 0.4448 0.6636 0.68 0.65 0.64 0.43 0.6628 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 0.324649 NA NA 0.69639 0.536893 NA 0.493 NA 2.2882434 1431 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 1431 12 54575458 54575458 T C UTR3 SMUG1 NM_001243788:c.*422A>G,NM_001243787:c.*422A>G,NM_014311:c.*422A>G NA NA UTR3 ENSG00000123415 ENST00000508394:c.*422A>G,ENST00000505128:c.*1886A>G,ENST00000337581:c.*422A>G NA NA NA NA 12q13.13 NA NA NA NA rs971 0.69 0.69 0.727 0.723642 0.6759 0.6657 0.5965 0.8101 0.8057 0.67 0.67 0.62 0.81 0.7046 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 -0.432999 NA NA 0.665997 0.809361 NA 0.674 NA 2.2868364 1431 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 1431 3 138187568 138187568 C T intronic ESYT3 NA NA NA intronic ENSG00000158220 NA NA NA NA NA 3q22.3 NA NA NA NA rs1679167 0.64 0.64 0.62 0.64357 0.5408 0.9405 0.6931 0.4221 0.7076 0.55 0.95 0.64 0.4 0.6154 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 0.191752 NA NA 0.557442 0.455742 NA 0.5 NA 2.286358 1431 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 1431 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 1431 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 1431 5 56152416 56152416 C A intronic MAP3K1 NA NA NA ncRNA_intronic ENSG00000237705 NA NA NA NA NA 5q11.2 NA NA NA NA rs832567 0.54 0.54 0.531 0.526158 0.7127 0.245 0.5043 0.6415 0.4836 0.7 0.25 0.54 0.64 0.6132 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.281303 NA NA 0.721991 0.647253 NA 0.587 NA 2.2854423 1431 3 112647613 112647613 T C intronic CD200R1 NA NA NA intronic ENSG00000163606 NA NA NA NA NA 3q13.2 NA NA NA NA rs1466872 0.65 0.65 0.642 0.678914 0.5537 0.7054 0.6182 0.7526 0.7239 0.56 0.69 0.63 0.73 0.6001 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 0.338356 NA NA 0.560766 0.72823 NA 0.587 NA 2.285434 1431 14 22690209 22690209 A C intergenic OR4E2,DAD1 dist=555971;dist=343598 NA NA exonic ENSG00000211814 NA nonsynonymous SNV ENSG00000211814:ENST00000390462:exon2:c.A168C:p.E56D NA NA 14q11.2 NA NA NA NA rs2272551 0.87 0.87 0.876 0.870208 0.8439 0.9008 0.8271 0.8707 0.8957 0.84 0.91 0.86 0.88 0.8517 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 -1.809919 NA 1 0.852375 0.878457 NA 0.833 NA 2.2853584 1431 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 1432 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 1432 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 1432 17 60742348 60742348 G T intronic MRC2 NA NA NA intronic ENSG00000011028 NA NA NA NA NA 17q23.2 NA NA NA NA rs2252814 0.48 0.48 0.466 0.433506 0.5895 0.5883 0.513 0.1604 0.4264 0.59 0.59 0.49 0.19 0.5457 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.946394 NA NA 0.580607 0.245735 NA 0.543 NA 2.284193 1432 22 50717129 50717129 T G intronic PLXNB2 NA NA NA intronic ENSG00000196576 NA NA NA NA NA 22q13.33 NA NA NA NA rs28718510 0.51 0.51 0.463 0.509784 0.5736 0.6101 0.4813 0.3071 0.635 0.58 0.61 0.46 0.35 0.5764 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.210711 NA NA 0.565821 0.33301 NA 0.384 NA 2.284179 1432 14 107078790 107078790 C T intergenic LINC00221,NONE dist=127261;dist=NONE NA NA exonic ENSG00000211968 NA nonsynonymous SNV ENSG00000211968:ENST00000390628:exon1:c.G19A:p.V7I NA NA 14q32.33 NA NA NA NA rs1858692 0.83 0.83 0.834 0.833466 0.8449 0.8046 0.8588 0.7958 0.8845 0.85 0.85 0.82 0.79 0.8451 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 -1.864042 NA 1 0.859229 0.798391 NA 0.899 NA 2.2841044 1432 14 106350696 106350696 A G intergenic ELK2AP,KIAA0125 dist=211552;dist=33142 NA NA upstream;downstream ENSG00000211909;ENSG00000227196 NA NA NA NA NA 14q32.33 NA NA NA NA rs2857368 0.45 0.45 0.45 NA NA NA NA NA NA 0.62 0.19 0.58 0.38 0.5717 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.518198 NA NA 0.644559 0.472499 NA 0.087 NA 2.283741 1432 4 56734701 56734701 C T intronic EXOC1 NA NA NA intronic ENSG00000090989 NA NA NA NA NA 4q12 NA NA NA NA rs3213948 0.59 0.59 0.572 0.544329 0.5835 0.6756 0.5403 0.4728 0.4683 0.61 0.67 0.55 0.51 0.561 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 1.687972 1.687972 NA 0.572674 0.510213 NA 0.529 NA 2.282826 1432 14 22695084 22695084 C T intergenic OR4E2,DAD1 dist=560846;dist=338723 NA NA exonic ENSG00000211815 NA nonsynonymous SNV ENSG00000211815:ENST00000390463:exon2:c.C275T:p.S92F NA NA 14q11.2 NA NA NA NA rs4982579 0.87 0.87 0.872 0.876597 0.8449 0.9008 0.8271 0.8949 0.8947 0.84 0.91 0.86 0.89 0.8526 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 -0.351668 NA 0.72 0.853345 0.902258 NA 0.841 NA 2.2824884 1432 9 115920099 115920099 T C intronic SLC31A2 NA NA NA intronic ENSG00000136867 NA NA NA NA NA 9q32 NA NA NA NA rs4344146 0.59 0.59 0.607 0.601238 0.5586 0.5952 0.6095 0.671 0.5511 0.55 0.56 0.62 0.68 0.5838 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.168672 NA NA 0.576465 0.682325 NA 0.623 NA 2.281135 1432 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 1432 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 1432 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 1432 X 150348228 150348228 C T intronic GPR50 NA NA NA intronic ENSG00000102195 NA NA NA NA NA Xq28 NA NA NA NA rs1202874 0.79 0.79 0.81479 NA NA NA NA NA NA 0.88 0.7 0.67 0.85 0.8365 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 -0.511204 NA NA 0.883916 0.901153 NA 0.543 NA 2.279584 1432 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 1432 17 27898828 27898828 T C intronic TP53I13 NA NA NA ncRNA_intronic ENSG00000264031 NA NA NA NA NA 17q11.2 NA NA NA NA rs565977 0.7 0.7 0.69 0.670727 0.6899 0.7986 0.6484 0.6006 0.6299 0.71 0.81 0.64 0.6 0.6647 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 0.587608 NA NA 0.699785 0.611576 NA 0.732 NA 2.2789483 1432 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 1432 3 186015283 186015283 A G intronic DGKG NA NA NA intronic ENSG00000058866 NA NA NA NA NA 3q27.3 NA NA NA NA rs3819860 0.51 0.51 0.478 0.480032 0.5785 0.5 0.5144 0.3495 0.5102 0.59 0.51 0.57 0.35 0.5545 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.415741 2.415741 NA 0.59 0.368588 NA 0.478 NA 2.277 1432 11 93212161 93212161 A G UTR3 SMCO4 NM_020179:c.*15T>C NA NA UTR3 ENSG00000166002 ENST00000298966:c.*15T>C,ENST00000525141:c.*15T>C,ENST00000527149:c.*15T>C NA NA NA NA 11q21 NA NA NA NA rs2605594 0.76 0.76 0.733 0.777157 0.663 0.9831 0.7983 0.6286 0.8681 0.67 1 0.76 0.63 0.7405 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.554759 NA NA 0.652862 0.663785 NA 0.804 NA 2.2769714 1432 16 427866 427866 T C intronic TMEM8A NA NA NA intronic ENSG00000129925 NA NA NA NA NA 16p13.3 NA NA NA NA rs12933709 0.5 0.5 0.531 0.538139 0.5388 0.3036 0.4769 0.6271 0.7025 0.54 0.29 0.5 0.69 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 -0.628398 NA NA 0.569269 0.638458 NA 0.391 NA 2.276331 1432 20 60902544 60902544 A C intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA Name=Pol2 NA NA rs944891 0.9 0.9 0.891 0.869209 0.9076 0.9802 0.9409 0.7572 0.816 0.9 0.98 0.93 0.78 0.8933 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 -0.039808 NA NA 0.922907 0.799818 NA 0.797 NA 2.276193 1432 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 1432 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 1432 5 58297881 58297881 A G intronic PDE4D NA NA NA intronic ENSG00000113448 NA NA NA NA NA 5q11.2 NA NA NA NA rs2968014 0.87 0.87 0.87 NA NA NA NA NA NA 0.82 0.86 0.9 0.95 0.8657 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 0.111195 NA NA 0.858614 0.918286 NA 0.935 NA 2.275686 1433 11 118067426 118067426 A G intronic AMICA1 NA NA NA intronic ENSG00000160593 NA NA NA NA NA 11q23.3 NA NA NA NA rs648947 0.56 0.56 0.537 0.600839 0.5517 0.5873 0.5317 0.5492 0.7843 0.57 0.6 0.52 0.51 0.5844 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.045167 NA NA 0.589036 0.544091 ID=COSN164057;OCCURENCE=1(large_intestine),1(NS) 0.572 NA 2.274864 1433 1 110210780 110210780 C G intronic GSTM2 NA NA NA intronic ENSG00000213366 NA NA NA NA NA 1p13.3 NA Name=Pol2,TAF1,HMGN3 NA NA rs530021 0.92 0.92 0.95 0.904752 0.8976 0.9702 0.938 0.8949 0.8344 0.9 0.97 0.93 0.92 0.9091 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 -0.550176 NA NA 0.919651 0.896278 NA 0.87 NA 2.273649 1433 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 1433 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 1433 20 60902490 60902490 C T intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA Name=Pol2,CTCF NA NA rs944892 0.9 0.9 0.904 0.877796 0.9076 0.9802 0.9424 0.789 0.816 0.9 0.98 0.93 0.78 0.8963 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 0.052183 NA NA 0.923703 0.818202 NA 0.812 NA 2.272397 1433 9 130485618 130485618 G A intronic TTC16 NA NA NA intronic ENSG00000167094,ENSG00000187024 NA NA NA NA NA 9q34.11 NA NA NA NA rs537881 0.52 0.52 0.49 0.540735 0.5924 0.2946 0.5821 0.612 0.6155 0.6 0.3 0.57 0.63 0.5726 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.894831 NA NA 0.562936 0.601499 NA 0.601 NA 2.272064 1433 19 13249244 13249244 A G UTR3 NACC1 NM_052876:c.*24A>G NA NA UTR3 ENSG00000160877 ENST00000292431:c.*24A>G,ENST00000585663:c.*24A>G NA NA NA NA 19p13.2 NA NA NA NA rs8112067 0.7 0.7 0.646 0.652157 0.674 0.8214 0.7896 0.4728 0.6002 0.67 0.87 0.77 0.5 0.6976 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 0.418675 NA NA 0.689856 0.523388 NA 0.717 NA 2.2718774 1433 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 1433 12 77438607 77438607 T C intronic E2F7 NA NA NA intronic ENSG00000165891 NA NA NA NA NA 12q21.2 NA NA NA NA rs2242383 0.49 0.49 0.506 0.497804 0.5736 0.2946 0.5461 0.5567 0.5153 0.58 0.28 0.56 0.57 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 1.055537 NA NA 0.59314 0.555833 ID=COSN164308;OCCURENCE=1(NS) 0.514 NA 2.27106 1433 3 62498378 62498378 G A intronic CADPS NA NA NA intronic ENSG00000163618 NA NA NA Score=750;Name=lod=1488 NA 3p14.2 NA NA NA NA rs1376917 0.83 0.83 0.835 0.850439 0.9274 0.7212 0.7695 0.8563 0.954 0.93 0.7 0.83 0.84 0.8823 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 1.870952 1.870952 NA 0.920226 0.845733 NA 0.884 NA 2.270074 1433 6 31555130 31555130 A G intronic LST1 NA NA NA intronic ENSG00000204482 NA NA NA NA NA 6p21.33 NA NA NA NA rs2256965 0.63 0.63 0.627 0.647165 0.5487 0.7331 0.5519 0.652 0.7209 0.57 0.71 0.54 0.68 0.6047 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.468087 NA NA 0.576628 0.655243 NA 0.681 NA 2.269972 1433 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 1433 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 1433 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 1433 6 165693624 165693624 C T intronic C6orf118 NA NA NA intronic ENSG00000112539 NA NA NA NA NA 6q27 NA NA NA NA rs1413100 0.46 0.46 0.436 0.442891 0.5875 0.5496 0.438 0.2126 0.499 0.58 0.53 0.46 0.21 0.542 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.388991 NA NA 0.601117 0.259192 NA 0.493 NA 2.269383 1433 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 1433 3 126138778 126138778 T C intronic CCDC37 NA NA NA intronic ENSG00000163885 NA NA NA NA NA 3q21.3 NA Name=RXRA NA NA rs2271630 0.82 0.82 0.833 0.813898 0.9304 0.5883 0.8631 0.8873 0.7924 0.93 0.58 0.85 0.88 0.8746 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 0.657183 NA NA 0.926279 0.893554 NA 0.862 NA 2.268721 1433 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 1433 3 47046842 47046842 G C intronic NBEAL2 NA NA NA intronic ENSG00000160796 NA NA NA NA NA 3p21.31 NA NA NA NA rs2305638 0.55 0.55 0.508 0.546526 0.5934 0.5397 0.5461 0.5045 0.5624 0.59 0.53 0.56 0.51 0.5611 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.985314 NA NA 0.577431 0.513514 NA 0.601 NA 2.268069 1433 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 1433 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 1433 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 1433 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 1433 16 1507778 1507778 T C intronic CLCN7 NA NA NA intronic ENSG00000103249 NA NA NA NA NA 16p13.3 NA NA NA NA rs9922189 0.6 0.6 0.561 0.575679 0.5855 0.6885 0.647 0.4909 0.5133 0.59 0.67 0.63 0.53 0.5826 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 -0.787877 NA NA 0.564884 0.502729 NA 0.572 NA 2.267016 1433 14 89063167 89063167 A G intronic ZC3H14 NA NA NA intronic ENSG00000100722 NA NA NA NA NA 14q31.3 NA NA NA NA rs2297124 0.88 0.88 0.883 NA NA NA NA NA NA 0.88 0.94 0.91 0.8 0.865 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 -0.123523 NA NA 0.86814 0.780754 NA 0.906 NA 2.26686 1433 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 1433 1 158654852 158654852 A G intronic SPTA1 NA NA NA intronic ENSG00000163554 NA NA NA NA NA 1q23.1 NA NA NA NA rs857937 0.51 0.51 0.485 0.459065 0.6143 0.5833 0.5115 0.2436 0.4254 0.63 0.55 0.52 0.3 0.5465 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.364179 1.364179 NA 0.572823 0.297231 NA 0.471 NA 2.266377 1433 10 3201097 3201097 T C intronic PITRM1 NA NA NA ncRNA_intronic ENSG00000237399 NA NA NA NA NA 10p15.2 NA NA NA NA rs3814594 0.63 0.63 0.628 0.60603 0.7097 0.6022 0.5663 0.497 0.6789 0.72 0.62 0.64 0.48 0.652 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.405552 NA NA 0.705331 0.548927 NA 0.696 NA 2.2663023 1433 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 1433 7 141750472 141750472 A G intronic MGAM NA NA NA intronic ENSG00000257335 NA NA NA NA NA 7q34 NA NA NA NA rs62477572 0.46 0.46 0.434 0.430112 0.6034 0.4058 0.5677 0.1868 0.5082 0.6 0.41 0.56 0.2 0.5574 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.672 NA NA 0.574197 0.234349 NA 0.536 NA 2.265003 1434 19 18322095 18322095 G A intronic PDE4C NA NA NA ncRNA_intronic ENSG00000268650 NA NA NA NA NA 19p13.11 NA NA NA NA rs12611244 0.61 0.61 0.593 0.552316 0.7256 0.6806 0.5793 0.3691 0.4703 0.73 0.66 0.59 0.37 0.6559 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 -0.827571 NA NA 0.687558 0.433727 NA 0.543 NA 2.2642753 1434 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 1434 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 1434 20 238507 238507 A C intronic DEFB132 NA NA NA intronic ENSG00000186458 NA NA NA NA NA 20p13 NA NA NA NA rs373225 0.5 0.5 0.428 0.461062 0.6193 0.6389 0.5 0.1513 0.5061 0.61 0.63 0.52 0.14 0.5327 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174819 NA NA 0.584419 0.221743 NA 0.486 NA 2.263581 1434 9 4860300 4860300 A G UTR3 RCL1 NM_005772:c.*25A>G NA NA UTR3 ENSG00000120158 ENST00000381750:c.*25A>G,ENST00000381730:c.*25A>G,ENST00000448872:c.*25A>G NA NA NA NA 9p24.1 NA NA NA NA rs15583 0.59 0.59 0.57 0.580671 0.7018 0.4296 0.6801 0.4697 0.6912 0.7 0.48 0.7 0.48 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 1.240599 1.240599 NA 0.695116 0.499092 NA 0.543 NA 2.2633174 1434 15 40683780 40683780 G A intronic KNSTRN NA NA NA intronic ENSG00000128944 NA NA NA NA NA 15q15.1 NA NA NA NA rs2289332 0.62 0.62 0.588 0.574681 0.5517 0.6766 0.6671 0.5189 0.5031 0.58 0.69 0.64 0.56 0.5971 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 -1.011104 NA NA 0.587925 0.53827 NA 0.522 NA 2.263275 1434 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 1434 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 1434 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 1434 16 75445675 75445675 G A intronic CFDP1 NA NA NA intronic ENSG00000153774 NA NA NA NA NA 16q23.1 NA NA NA NA rs1109342 0.52 0.52 0.501 0.497404 0.5726 0.5456 0.6729 0.3139 0.4939 0.57 0.53 0.62 0.37 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 -0.477025 NA NA 0.591649 0.337125 NA 0.449 NA 2.262251 1434 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 1434 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 1434 1 1696659 1696659 A G intronic NADK NA NA NA intronic ENSG00000008130 NA NA NA NA NA 1p36.33 NA NA Name=5 NA rs5021859 0.79 0.79 0.755 0.741214 0.9314 0.8304 0.8703 0.4955 0.6943 0.94 0.84 0.87 0.47 0.8622 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 0.221893 NA NA 0.945465 0.596232 NA 0.754 NA 2.260935 1434 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 1434 7 100280896 100280896 A C intronic GIGYF1 NA NA NA intronic ENSG00000146830 NA NA NA NA NA 7q22.1 NA Name=ZNF263 NA NA rs221793 0.96 0.96 0.963 0.970847 0.9016 1 0.964 0.9955 0.9836 0.9 1 0.96 0.99 0.9311 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.536044 NA NA 0.906744 0.9798 NA 0.971 NA 2.260556 1434 8 124448689 124448689 T C intronic WDYHV1 NA NA NA intronic ENSG00000156795 NA NA NA NA NA 8q24.13 NA NA Name=3 NA rs9297669 0.91 0.91 0.894 0.914337 0.8867 0.9921 0.9352 0.8351 0.955 0.9 0.99 0.91 0.83 0.9294 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 -0.181325 NA NA 0.923372 0.847254 NA 0.841 NA 2.260528 1434 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 1434 3 64640212 64640212 G T intronic ADAMTS9 NA NA NA intronic ENSG00000163638 NA NA NA NA NA 3p14.1 NA NA NA NA rs59517147 0.53 0.53 0.537 0.51857 0.6044 0.2143 0.5072 0.736 0.4581 0.6 0.23 0.55 0.75 0.5499 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 -0.879152 NA NA 0.585233 0.697004 NA NA NA 2.260467 1434 16 427657 427657 G A intronic TMEM8A NA NA NA intronic ENSG00000129925 NA NA NA NA NA 16p13.3 NA NA NA NA rs11641693 0.49 0.49 0.522 0.530551 0.5388 0.2986 0.4741 0.6074 0.6973 0.54 0.28 0.5 0.66 0.6251 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 -0.254667 NA NA 0.575676 0.62662 NA 0.449 NA 2.260424 1434 3 15807725 15807725 T A intronic ANKRD28 NA NA NA intronic ENSG00000206560 NA NA NA NA NA 3p25.1 NA NA NA NA rs6789076 0.45 0.45 0.405 0.417332 0.5944 0.3333 0.6081 0.1967 0.4847 0.59 0.37 0.62 0.2 0.5546 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.55366 2.55366 NA 0.590608 0.262009 ID=COSN166825;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.428 NA 2.260392 1434 15 74529130 74529130 T G intronic CCDC33 NA NA NA intronic ENSG00000140481 NA NA NA NA NA 15q24.1 NA NA NA NA rs11633321 0.4 0.4 0.372 0.340655 0.6103 0.3512 0.3818 0.1301 0.3078 0.61 0.35 0.43 0.13 0.5107 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.307355 NA NA 0.619318 0.196713 NA 0.37 NA 2.259682 1434 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 1434 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 1434 9 132620707 132620707 T C intronic USP20 NA NA NA intronic ENSG00000136878 NA NA NA NA NA 9q34.11 NA Name=HEY1,YY1,TBP NA NA rs2134601 0.9 0.9 0.882 0.884385 0.9215 0.997 0.9164 0.7337 0.911 0.92 0.99 0.9 0.74 0.9153 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 1.161137 NA NA 0.904289 0.784045 NA 0.884 NA 2.258911 1434 13 99540500 99540500 A G intronic DOCK9 NA NA NA intronic ENSG00000088387 NA NA NA NA NA 13q32.3 NA NA NA NA rs2274643 0.47 0.47 0.436 0.464457 0.5865 0.3224 0.549 0.3865 0.5307 0.57 0.37 0.57 0.37 0.5525 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.618625 NA NA 0.602815 0.451359 NA 0.471 NA 2.258185 1434 12 10748403 10748403 A T ncRNA_exonic KLRAP1 NA NA NA ncRNA_exonic ENSG00000256667 NA NA NA NA NA 12p13.2 NA NA NA NA rs2682484 0.84 0.84 0.813 0.851238 0.7753 0.994 0.8501 0.7731 0.8885 0.77 0.99 0.83 0.79 0.8284 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 -0.617465 NA 0.89 0.804935 0.774523 NA 0.862 NA 2.2580316 1434 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 1434 12 122284715 122284715 T C intronic HPD NA NA NA intronic ENSG00000158104 NA NA NA NA NA 12q24.31 NA NA NA NA rs2247291 0.84 0.84 0.84 0.845447 0.8708 0.876 0.7853 0.8268 0.8558 0.87 0.84 0.81 0.83 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 0.905793 NA NA 0.871464 0.840318 NA 0.819 NA 2.257736 1434 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 1434 10 29784114 29784114 T C intronic SVIL NA NA NA intronic ENSG00000197321 NA NA NA NA NA 10p11.23 NA NA NA NA rs6481601 0.77 0.77 0.79 0.780152 0.8748 0.7014 0.8415 0.7421 0.772 0.81 0.7 0.81 0.75 0.8675 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 0.83341 NA NA NA NA NA 0.833 NA 2.2577 1434 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 1434 9 136409580 136409580 T G intronic ADAMTSL2 NA NA NA intronic ENSG00000197859 NA NA NA NA NA 9q34.2 NA NA NA NA rs9802778 0.76 0.76 0.735 NA NA NA NA NA NA 0.91 0.56 0.77 0.75 0.8248 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 -1.29241 NA NA 0.91814 0.797095 NA 0.877 NA 2.25706 1434 1 24133612 24133612 G A intronic HMGCL NA NA NA intronic ENSG00000117305 NA NA NA NA NA 1p36.11 NA NA NA NA rs1018396 0.55 0.55 0.562 0.554712 0.5915 0.5119 0.5994 0.4281 0.7004 0.59 0.56 0.61 0.43 0.5904 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.061865 NA NA 0.561276 0.449201 NA 0.63 NA 2.256824 1434 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 1434 13 52710044 52710044 T C intronic NEK3 NA NA NA intronic ENSG00000136098 NA NA NA NA NA 13q14.3 NA NA NA NA rs2296350 0.47 0.47 0.437 0.419129 0.6362 0.5347 0.4467 0.1876 0.3701 0.61 0.51 0.49 0.21 0.5093 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.879879 NA NA 0.598328 0.234272 NA 0.399 NA 2.256172 1434 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 1434 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 1434 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 1435 1 178854162 178854162 C T intronic RALGPS2 NA NA NA intronic ENSG00000116191 NA NA NA NA NA 1q25.2 NA NA NA NA rs6425503 0.61 0.61 0.621 0.604633 0.5835 0.5387 0.5735 0.8101 0.4387 0.59 0.52 0.55 0.78 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 0.868834 NA NA 0.578488 0.767817 NA 0.717 NA 2.254912 1435 6 80724312 80724312 A G intronic TTK NA NA NA intronic ENSG00000112742 NA NA NA NA NA 6q14.1 NA NA NA NA rs239566 0.65 0.65 0.628 0.675719 0.5626 0.7083 0.781 0.7141 0.6319 0.55 0.7 0.73 0.69 0.6134 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 1.999502 1.999502 NA 0.569114 0.686564 NA 0.565 NA 2.254886 1435 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 1435 7 101747575 101747575 A G intronic CUX1 NA NA NA intronic ENSG00000257923 NA NA NA NA NA 7q22.1 NA NA NA NA rs201480 0.51 0.51 0.501 0.531949 0.5716 0.0942 0.5418 0.82 0.546 0.58 0.11 0.58 0.81 0.5636 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 0.121823 NA NA 0.610233 0.788016 NA 0.688 NA 2.254567 1435 7 87053206 87053206 G A intronic ABCB4 NA NA NA intronic ENSG00000005471 NA NA NA NA NA 7q21.12 NA NA Name=4 NA rs31668 0.83 0.83 0.871 0.873602 0.9254 0.7133 0.902 0.9395 0.8763 0.89 0.69 0.88 0.87 0.899 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 0.126512 NA NA 0.921047 0.935542 NA 0.855 NA 2.254553 1435 8 17804665 17804665 G A intronic PCM1 NA NA NA intronic ENSG00000078674 NA NA NA NA NA 8p22 NA NA NA NA rs28655174 0.34 0.34 0.317 0.321885 0.6083 0.1548 0.3372 0.1566 0.4121 0.62 0.14 0.35 0.14 0.5085 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.564765 NA NA 0.628898 0.236479 NA 0.362 NA 2.254302 1435 19 54606209 54606209 T G intronic NDUFA3 NA NA NA UTR5 ENSG00000170906 ENST00000303553:c.-3076T>G NA NA NA NA 19q13.42 NA Name=Pol2-4H8,Znf143_(16618-1-AP),TAF1,ATF3,ETS1,HEY1,HA-E2F1,CHD2_(N-1250),Pol2,E2F6_(H-50),YY1,TBP,c-Myc,YY1_(C-20),ERalpha_a,SIX5,Sin3Ak-20 NA NA rs254260 0.91 0.91 0.916 0.907947 0.9831 0.6994 0.8905 0.9985 0.9356 0.98 0.74 0.93 1 0.943 1 NA NA 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 0.986512 0.995913 NA 0.971 NA 2.2540547 1435 12 132685826 132685826 T C intronic GALNT9 NA NA NA intronic ENSG00000182870 NA NA NA NA NA 12q24.33 NA NA NA NA rs11246988 0.56 0.56 0.534 0.551318 0.5716 0.4881 0.5187 0.6014 0.5511 0.58 0.48 0.52 0.63 0.5692 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.230225 NA NA 0.605326 0.617115 NA 0.514 NA 2.253874 1435 1 155033317 155033317 T C ncRNA_intronic LOC100505666 NA NA NA intronic ENSG00000143537 NA NA NA NA NA 1q22 NA NA NA NA rs11264304 0.7 0.7 0.653 0.696685 0.6799 0.9276 0.7666 0.4652 0.7393 0.68 0.94 0.7 0.47 0.706 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 -0.454623 NA NA 0.693605 0.531321 NA 0.674 NA 2.2538283 1435 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 1435 2 219903787 219903787 T C intronic CCDC108 NA NA NA UTR5 ENSG00000181378 ENST00000324264:c.-529A>G NA NA NA NA 2q35 NA NA NA NA rs4672910 0.45 0.45 0.413 0.415735 0.671 0.2679 0.5101 0.202 0.5276 0.69 0.28 0.52 0.23 0.5781 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 0.103907 NA NA 0.665 0.258738 NA 0.507 NA 2.2525667 1435 22 20755098 20755098 A G intronic ZNF74 NA NA NA intronic ENSG00000185252 NA NA NA NA NA 22q11.21 NA NA NA NA rs1990249 0.62 0.62 0.635 0.628594 0.5706 0.5565 0.6138 0.7542 0.6033 0.58 0.58 0.62 0.74 0.5993 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 -0.136542 NA NA 0.578413 0.754554 NA 0.587 NA 2.251687 1435 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 1435 6 110643956 110643956 T C intronic METTL24 NA NA NA intronic ENSG00000053328 NA NA NA NA NA 6q21 NA NA Name=6 NA rs6908306 0.95 0.95 0.958 0.965855 0.9006 1 0.9222 0.9947 0.9898 0.91 1 0.91 1 0.9352 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.619339 NA NA 0.913177 0.982781 NA 0.942 NA 2.251023 1435 8 2048640 2048640 C A intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs3779838 0.66 0.66 0.651 0.658746 0.5606 0.6736 0.7608 0.739 0.5634 0.56 0.68 0.73 0.72 0.6202 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 -0.805101 NA NA 0.568721 0.73468 NA 0.543 NA 2.250479 1435 21 37518362 37518362 A G ncRNA_intronic CBR3-AS1 NA NA NA ncRNA_intronic ENSG00000236830 NA NA NA NA NA 21q22.12 NA NA NA NA rs2835286 0.79 0.79 0.793 0.79373 0.8072 0.8373 0.7464 0.7542 0.8221 0.81 0.84 0.75 0.73 0.7912 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 -0.798131 NA NA 0.817907 0.765547 NA 0.732 NA 2.2503596 1435 12 121097622 121097622 G A intronic CABP1 NA NA NA intronic ENSG00000157782 NA NA NA NA NA 12q24.31 NA NA NA NA rs529584 0.91 0.91 0.899 0.917732 0.8857 0.8571 0.9236 0.9962 0.9029 0.88 0.84 0.93 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 -0.402726 NA NA 0.864236 0.981936 NA 0.92 NA 2.250064 1435 2 182413259 182413259 A G intronic CERKL NA NA NA intronic ENSG00000188452 NA NA NA NA NA 2q31.3 NA NA NA NA rs12997453 0.58 0.58 0.591 0.648363 0.5447 0.621 0.6282 0.6127 0.8456 0.54 0.6 0.58 0.63 0.6239 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.623208 NA NA 0.582112 0.614616 NA 0.616 NA 2.249288 1435 17 7134129 7134129 A G intronic DVL2 NA NA NA intronic ENSG00000004975 NA NA NA NA NA 17p13.1 NA NA NA NA rs222835 0.55 0.55 0.513 0.549121 0.5845 0.6399 0.5245 0.4092 0.6258 0.56 0.65 0.57 0.41 0.5884 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.234366 NA NA 0.57814 0.428961 NA 0.551 NA 2.24896 1435 5 16764334 16764334 C T intronic MYO10 NA NA NA intronic ENSG00000145555 NA NA NA NA NA 5p15.1 NA NA NA NA rs250341 0.49 0.49 0.485 0.507987 0.5905 0.3065 0.4899 0.4924 0.6646 0.6 0.32 0.52 0.49 0.5584 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.696825 NA NA 0.602567 0.492352 NA 0.391 NA 2.248533 1435 13 36402475 36402475 G A ncRNA_intronic MIR548F5 NA NA NA intronic ENSG00000133083 NA NA NA NA NA 13q13.3 NA NA NA NA rs2296646 0.62 0.62 0.608 0.591254 0.7296 0.7034 0.5634 0.3661 0.6575 0.73 0.69 0.58 0.39 0.6606 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 -0.923336 NA NA 0.695971 0.384196 NA 0.58 NA 2.2471623 1435 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 1435 18 44595809 44595809 A T intronic KATNAL2 NA NA NA intronic ENSG00000167216 NA NA NA NA NA 18q21.1 NA NA NA NA rs2289036 0.53 0.53 0.521 0.497204 0.6133 0.4772 0.4222 0.4871 0.4652 0.62 0.51 0.45 0.49 0.553 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305353 NA NA 0.587558 0.535179 NA 0.572 NA 2.246142 1435 11 74995350 74995350 C T intronic ARRB1 NA NA NA intronic ENSG00000137486 NA NA NA NA NA 11q13.4 NA NA NA NA rs647630 0.48 0.48 0.463 0.489816 0.5984 0.3869 0.3862 0.4743 0.5787 0.6 0.37 0.44 0.46 0.5506 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.448845 NA NA 0.605288 0.492727 NA 0.449 NA 2.245712 1435 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 1436 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 1436 17 4881776 4881776 C G intronic CAMTA2 NA NA NA intronic ENSG00000108509 NA NA NA NA NA 17p13.2 NA NA NA NA rs376516 0.56 0.56 0.537 0.540136 0.5785 0.4018 0.6513 0.6694 0.3896 0.57 0.38 0.66 0.69 0.5653 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 0.680961 NA NA 0.611512 0.674989 NA 0.601 NA 2.244688 1436 11 64799894 64799894 A C ncRNA_intronic ARL2-SNX15 NA NA NA intronic ENSG00000110025 NA NA NA NA NA 11q13.1 NA NA NA NA rs678614 0.58 0.58 0.563 0.590455 0.7058 0.245 0.7349 0.6483 0.6472 0.71 0.25 0.74 0.67 0.6616 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.827093 NA NA 0.721317 0.651976 NA 0.587 NA 2.2446163 1436 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 1436 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 1436 5 6020418 6020418 T G intergenic KIAA0947,FLJ33360 dist=530071;dist=290136 NA NA ncRNA_exonic ENSG00000261037 NA NA NA NA NA 5p15.32 NA NA NA NA rs457263 0.6 0.6 0.59 0.58746 0.5795 0.7381 0.6427 0.4644 0.5675 0.57 0.72 0.62 0.48 0.5886 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.531526 NA NA 0.588866 0.467705 NA 0.457 NA 2.243034 1436 2 216272819 216272819 C G intronic FN1 NA NA NA intronic ENSG00000115414 NA NA NA NA NA 2q35 NA NA NA NA rs7570208 0.71 0.71 0.712 0.665935 0.5815 0.9315 0.6585 0.6914 0.4499 0.59 0.97 0.65 0.64 0.6051 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 0.369438 NA NA 0.570465 0.677712 NA 0.775 NA 2.242935 1436 14 79276733 79276733 C A intronic NRXN3 NA NA NA intronic ENSG00000021645 NA NA NA Score=525;Name=lod=182 NA 14q24.3 NA NA NA NA rs4133797 0.88 0.88 0.997 0.998003 0.999 1 1 0.9932 1 0.88 0.91 0.94 0.82 0.7585 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134834 NA NA 0.99965 0.990863 NA 0.63 NA 2.24285 1436 18 47480660 47480660 G A intronic MYO5B NA NA NA intronic ENSG00000167306 NA NA NA NA NA 18q21.1 NA NA NA NA rs1787299 0.51 0.51 0.558 0.503395 0.6093 0.2698 0.5058 0.6415 0.4468 0.6 0.27 0.51 0.67 0.5408 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 -0.415933 NA NA 0.607264 0.668432 ID=COSN165658;OCCURENCE=1(breast) 0.594 NA 2.242636 1436 6 125232072 125232072 T C ncRNA_exonic STL NA NA NA ncRNA_exonic ENSG00000236548 NA NA NA NA NA 6q22.31 NA NA NA NA rs699387 0.82 0.82 0.809 0.811502 0.7843 0.999 0.8271 0.6089 0.909 0.78 1 0.83 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 0.085746 NA NA 0.809392 0.634857 NA 0.775 NA 2.2422746 1436 16 8738350 8738350 C T intronic METTL22 NA NA NA intronic ENSG00000067365 NA NA NA NA NA 16p13.2 NA NA NA NA rs11645418 0.85 0.85 0.839 0.849042 0.8807 1 0.8674 0.5983 0.9867 0.89 1 0.86 0.64 0.8773 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.476347 NA NA NA NA NA 0.746 NA 2.242 1436 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 1436 6 52847551 52847551 G C intronic GSTA4 NA NA NA intronic ENSG00000170899 NA NA NA NA NA 6p12.2 NA NA NA NA rs316133 0.57 0.57 0.579 0.57508 0.5547 0.748 0.487 0.4539 0.6442 0.55 0.74 0.48 0.47 0.5905 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.353658 NA NA 0.613372 0.501816 NA 0.5 NA 2.241428 1436 1 227081850 227081850 G A intronic PSEN2 NA NA NA intronic ENSG00000143801 NA NA NA NA NA 1q42.13 NA NA NA NA rs2855562 0.59 0.59 0.57 0.574081 0.6223 0.6052 0.6297 0.4803 0.5798 0.63 0.62 0.64 0.46 0.5757 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.841441 NA NA 0.560814 0.492734 NA 0.645 NA 2.241186 1436 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 1436 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 1436 16 46697098 46697098 A G intronic VPS35 NA NA NA intronic ENSG00000069329 NA NA NA NA NA 16q11.2 NA NA NA NA rs2304492 0.46 0.46 0.43 0.46266 0.5984 0.5585 0.438 0.1195 0.7055 0.62 0.55 0.48 0.11 0.5718 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5.113588 5.113588 NA 0.590275 0.196096 ID=COSN165190;OCCURENCE=1(breast) 0.341 NA 2.239525 1436 1 977330 977330 T C intronic AGRN NA NA NA intronic ENSG00000188157 NA NA NA NA NA 1p36.33 NA NA NA NA rs2799066 0.89 0.89 0.871 0.885184 0.9245 0.999 0.9207 0.6899 0.9663 0.93 1 0.93 0.67 0.9166 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.243355 NA NA 0.920777 0.719446 NA 0.797 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116254.1;CLNDSDB=.;CLNDSDBID=. 2.238123 1436 21 44327015 44327015 G A intronic NDUFV3 NA NA NA intronic ENSG00000160194 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839604 0.52 0.52 0.538 0.528754 0.5885 0.3373 0.3458 0.7254 0.5286 0.59 0.34 0.39 0.73 0.5611 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 -0.216171 NA NA 0.613009 0.702626 NA 0.558 NA 2.237391 1436 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 1436 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 1436 2 165578581 165578581 A G intronic COBLL1 NA NA NA intronic ENSG00000082438 NA NA NA NA NA 2q24.3 NA NA NA NA rs6414069 0.59 0.59 0.622 0.599241 0.6044 0.3988 0.5072 0.8888 0.4744 0.59 0.4 0.51 0.88 0.577 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 -0.248414 NA NA 0.581977 0.835452 NA 0.58 NA 2.236623 1436 11 118625609 118625609 C T intronic DDX6 NA NA NA intronic ENSG00000110367 NA NA NA NA NA 11q23.3 NA NA NA NA rs580079 0.88 0.88 NA 0.88758 0.8728 0.999 0.9063 0.7799 0.9202 0.86 0.99 0.87 0.77 0.8909 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 -1.030082 NA NA NA NA NA 0.812 NA 2.2363 1436 9 134397624 134397624 C T intronic POMT1 NA NA NA intronic ENSG00000130714 NA NA NA NA NA 9q34.13 NA NA NA NA rs4740165 0.83 0.83 0.817 0.831669 0.9235 0.9246 0.8156 0.5991 0.9673 0.92 0.92 0.85 0.59 0.8996 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 -0.645439 NA NA 0.940698 0.648434 NA 0.826 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081486.1;CLNDSDB=.;CLNDSDBID=. 2.236202 1436 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 1437 4 6304242 6304242 T C UTR3 WFS1 NM_001145853:c.*47T>C,NM_006005:c.*47T>C NA NA UTR3 ENSG00000109501 ENST00000503569:c.*47T>C,ENST00000226760:c.*47T>C NA NA NA NA 4p16.1 NA NA NA NA rs1046317 0.79 0.79 0.778 0.783746 0.6879 0.9077 0.7478 0.7958 0.7638 0.68 0.94 0.75 0.8 0.7247 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 0.374633 NA NA 0.686079 0.779472 NA 0.739 NA 2.2346544 1437 1 247597365 247597365 G A intronic NLRP3 NA NA NA intronic ENSG00000162711 NA NA NA NA NA 1q44 NA NA NA NA rs10925022 0.94 0.94 0.913 0.788738 0.8161 0.8492 0.8127 0.7481 0.7362 0.95 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 -0.920023 NA NA 0.949302 0.825692 NA 0.203 NA 2.234598 1437 21 45076443 45076443 A G intronic HSF2BP NA NA NA intronic ENSG00000160207 NA NA NA NA NA 21q22.3 NA NA NA NA rs2838341 0.63 0.63 0.604 0.636581 0.5815 0.8046 0.6744 0.4917 0.6892 0.58 0.78 0.63 0.51 0.6233 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 2.104216 2.104216 NA 0.560814 0.537903 ID=COSN166668;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0.58 NA 2.234386 1437 15 100533218 100533218 C T intronic ADAMTS17 NA NA NA intronic ENSG00000140470 NA NA NA NA NA 15q26.3 NA NA NA NA rs7175995 0.46 0.46 0.428 0.427516 0.6173 0.4464 0.4366 0.2716 0.4172 0.61 0.4 0.47 0.27 0.5272 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280743 NA NA 0.621163 0.302542 NA 0.435 NA 2.234337 1437 15 92459187 92459187 T C intronic SLCO3A1 NA NA NA intronic ENSG00000176463 NA NA NA NA NA 15q26.1 NA NA NA NA rs4077721 0.68 0.68 0.674 0.701078 0.5567 0.9226 0.6254 0.6634 0.726 0.55 0.9 0.61 0.68 0.6348 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 0.043604 NA NA 0.574178 0.666363 NA 0.652 NA 2.234322 1437 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 1437 1 59147420 59147420 G A intronic MYSM1 NA NA NA intronic ENSG00000162601 NA NA NA NA NA 1p32.1 NA NA NA NA rs11207292 0.58 0.58 0.557 0.582268 0.5875 0.629 0.6369 0.4849 0.6217 0.58 0.62 0.64 0.48 0.6047 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.31321 NA NA 0.573918 0.480995 ID=COSN163112;OCCURENCE=1(breast) 0.572 NA 2.233882 1437 3 38406793 38406793 T G intronic XYLB NA NA NA intronic ENSG00000093217 NA NA NA NA NA 3p22.2 NA NA Name=2 NA rs2234608 0.8 0.8 0.761 0.770767 0.9374 0.75 0.8833 0.4818 0.9315 0.94 0.76 0.9 0.54 0.8929 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 -0.506705 NA NA 0.936163 0.559691 NA 0.804 NA 2.233537 1437 9 95397418 95397418 C G intronic IPPK NA NA NA intronic ENSG00000127080 NA NA NA NA NA 9q22.31 NA NA NA NA rs1111047 0.74 0.74 0.731 0.752596 0.5577 0.872 0.6542 0.9448 0.6401 0.55 0.85 0.68 0.94 0.6352 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 0.119095 NA NA 0.573605 0.886291 NA 0.703 NA 2.233495 1437 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 1437 17 30980972 30980972 G A intronic MYO1D NA NA NA ncRNA_intronic ENSG00000264458 NA NA NA NA NA 17q11.2 NA NA NA NA rs2249638 0.67 0.67 0.672 0.646765 0.7167 0.7361 0.6499 0.5272 0.6421 0.72 0.72 0.65 0.56 0.6826 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.205758 NA NA 0.701163 0.563777 NA 0.746 NA 2.2328703 1437 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 1437 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 1437 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 1437 12 57858414 57858414 A G intronic GLI1 NA NA NA intronic ENSG00000111087 NA NA NA NA NA 12q13.3 NA NA NA NA rs3817475 0.42 0.42 0.422 0.365216 0.6262 0.3056 0.3934 0.1611 0.4141 0.62 0.33 0.44 0.19 0.5127 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.052304 NA NA 0.628837 0.241716 NA 0.435 NA 2.232263 1437 2 166893081 166893081 G A intronic SCN1A NA NA NA ncRNA_intronic ENSG00000236107 NA NA NA NA NA 2q24.3 NA NA NA NA rs7601520 0.79 0.79 0.767 0.788738 0.6918 0.8909 0.7608 0.8457 0.726 0.69 0.89 0.75 0.84 0.7222 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 0.686864 NA NA 0.687115 0.820312 NA 0.688 NA 2.2322183 1437 6 125233518 125233518 A G ncRNA_exonic STL NA NA NA ncRNA_exonic ENSG00000236548 NA NA NA NA NA 6q22.31 NA NA NA NA rs781742 0.85 0.85 0.824 0.84984 0.7843 0.998 0.8401 0.7489 0.908 0.78 1 0.83 0.79 0.8401 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.965053 NA NA 0.810397 0.754566 NA 0.804 NA 2.2318696 1437 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 1437 8 101059662 101059662 G A intronic RGS22 NA NA NA intronic ENSG00000132554 NA NA NA NA NA 8q22.2 NA NA NA NA rs2980542 0.59 0.59 0.561 0.595248 0.5915 0.6409 0.6643 0.5234 0.6002 0.61 0.62 0.62 0.51 0.6053 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.433762 NA NA 0.571429 0.539183 NA 0.507 NA 2.231771 1437 22 33229830 33229830 A G intronic SYN3,TIMP3 NA NA NA intronic ENSG00000100234,ENSG00000185666 NA NA NA NA NA 22q12.3 NA NA NA NA rs242076 0.58 0.58 0.551 0.553914 0.5875 0.5794 0.6916 0.5061 0.4601 0.58 0.6 0.68 0.47 0.5898 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.303615 NA NA 0.591298 0.545662 NA 0.543 NA 2.231402 1437 4 1332175 1332175 A G intronic MAEA NA NA NA intronic ENSG00000090316 NA NA NA NA NA 4p16.3 NA NA NA NA rs13147602 0.72 0.72 0.68 0.725639 0.5626 0.747 0.7464 0.9289 0.5818 0.57 0.75 0.72 0.92 0.6318 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 -0.152318 NA NA 0.574476 0.867106 NA 0.703 NA 2.231124 1437 5 90449031 90449031 T C intronic GPR98 NA NA NA intronic ENSG00000164199 NA NA NA NA NA 5q14.3 NA NA NA NA rs7726023 0.9 0.9 0.902 0.898363 0.9056 0.9097 0.9352 0.8487 0.9202 0.91 0.88 0.93 0.88 0.9264 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 -0.53096 NA NA 0.937848 0.870653 NA 0.87 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039555.1;CLNDSDB=.;CLNDSDBID=. 2.230152 1437 19 7976116 7976116 T C intronic MAP2K7 NA NA NA intronic ENSG00000076984 NA NA NA NA NA 19p13.2 NA NA NA NA rs10412007 0.63 0.63 0.624 0.65655 0.5865 0.5169 0.6614 0.7579 0.7321 0.59 0.55 0.67 0.77 0.6096 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 0.914726 NA NA 0.574288 0.740054 NA 0.493 NA 2.229612 1437 1 113242488 113242488 C T intronic MOV10 NA NA NA intronic ENSG00000155363 NA NA NA NA NA 1p13.2 NA NA NA NA rs3013431 0.51 0.51 0.51 0.545727 0.5984 0.369 0.6196 0.5053 0.6759 0.59 0.34 0.64 0.52 0.5664 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.135826 NA NA 0.605698 0.536995 NA 0.551 NA 2.229502 1437 14 31858025 31858025 C T intronic HEATR5A NA NA NA intronic ENSG00000129493,ENSG00000203546 NA NA NA NA NA 14q12 NA NA Name=30 NA rs3887865 0.83 0.83 0.833 0.81849 0.9523 0.7956 0.755 0.6959 0.9151 0.95 0.82 0.76 0.72 0.887 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 0.807205 NA NA 0.932045 0.727152 NA 0.884 NA 2.228655 1437 16 4721468 4721468 T C intronic MGRN1 NA NA NA intronic ENSG00000102858 NA NA NA NA NA 16p13.3 NA NA NA NA rs715109 0.58 0.58 0.579 0.530152 0.5825 0.631 0.536 0.4924 0.4192 0.59 0.68 0.53 0.5 0.5759 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.169807 NA NA 0.614083 0.53207 ID=COSM148012;OCCURENCE=1(stomach) 0.565 NA 2.227517 1437 19 41078220 41078220 G C intronic SPTBN4 NA NA NA intronic ENSG00000160460 NA NA NA NA NA 19q13.2 NA NA NA NA rs1165841 0.47 0.47 0.502 0.457867 0.5865 0.1736 0.379 0.6316 0.4397 0.6 0.18 0.43 0.66 0.5464 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 0.895598 NA NA 0.639767 0.652065 ID=COSN165819;OCCURENCE=1(NS) 0.572 NA 2.227333 1437 11 89223616 89223616 C G intronic NOX4 NA NA NA intronic ENSG00000086991 NA NA NA NA NA 11q14.3 NA NA Name=54 NA rs490934 0.88 0.88 0.911 0.879792 0.9264 0.8006 0.8271 0.9516 0.8538 0.92 0.78 0.86 0.95 0.9023 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 -0.270478 NA NA 0.944057 0.94298 NA 0.87 NA 2.227243 1437 10 133961564 133961564 T C intronic JAKMIP3 NA NA NA intronic ENSG00000188385 NA NA NA NA NA 10q26.3 NA NA NA NA rs2818383 0.49 0.49 0.457 0.465056 0.5915 0.3065 0.7406 0.4123 0.3742 0.59 0.3 0.69 0.43 0.5742 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 -0.266347 NA NA 0.607667 0.450159 NA 0.522 NA 2.226633 1437 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 1437 3 33093190 33093190 T C intronic GLB1 NA NA NA intronic ENSG00000170266 NA NA NA NA NA 3p22.3 NA NA NA NA rs12632196 0.82 0.82 0.802 0.780152 0.8976 1 0.8804 0.3533 0.9387 0.89 1 0.91 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 0.327022 NA NA 0.876179 0.441474 NA 0.826 NA 2.226221 1437 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 1437 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 1437 9 138590347 138590347 C T intronic SOHLH1 NA NA NA intronic ENSG00000165643 NA NA NA NA NA 9q34.3 NA Name=GABP NA NA rs529976 0.88 0.88 0.849 0.867013 0.9354 0.9712 0.915 0.6528 0.9448 0.94 0.98 0.91 0.64 0.9179 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 -0.365479 NA NA 0.92093 0.69882 NA 0.862 NA 2.22577 1437 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 1437 1 109369797 109369797 T G intronic AKNAD1 NA NA NA intronic ENSG00000162641 NA NA NA NA NA 1p13.3 NA NA NA NA rs11102506 0.51 0.51 0.493 0.507188 0.5934 0.2649 0.536 0.6331 0.4775 0.59 0.27 0.57 0.64 0.5618 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.867443 1.867443 NA 0.619214 0.638675 ID=COSN163178;OCCURENCE=1(NS) 0.645 NA 2.225586 1437 14 22521012 22521012 C G intergenic OR4E2,DAD1 dist=386774;dist=512795 NA NA intronic ENSG00000211801 NA NA NA NA NA 14q11.2 NA NA NA NA rs2072613 0.42 0.42 0.417 0.404553 0.499 0.5079 0.464 0.1846 0.456 0.48 0.5 0.47 0.21 0.4756 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.621997 NA NA 0.466909 0.237333 NA 0.413 NA 2.2251577 1438 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 1438 1 236719259 236719259 G A intronic HEATR1 NA NA NA intronic ENSG00000119285 NA NA NA NA NA 1q43 NA NA NA NA rs1885534 0.42 0.42 0.362 0.35004 0.6233 0.3839 0.4582 0.034 0.3845 0.62 0.41 0.49 0.06 0.5298 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108239 NA NA 0.622791 0.126872 NA 0.442 NA 2.224109 1438 8 139614436 139614436 G A intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA Name=4 NA rs4394401 0.86 0.86 0.882 0.844449 0.9533 0.8135 0.8199 0.7837 0.864 0.95 0.79 0.85 0.84 0.8869 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 -0.322484 NA NA 0.93686 0.803677 NA 0.812 NA 2.22294 1438 7 25194618 25194618 G A intronic C7orf31 NA NA NA intronic ENSG00000153790 NA NA NA NA NA 7p15.3 NA NA NA NA rs2523073 0.52 0.52 0.553 0.538339 0.6093 0.4206 0.5029 0.5855 0.5481 0.6 0.38 0.52 0.57 0.5608 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.180893 NA NA 0.606977 0.591012 NA 0.594 NA 2.222923 1438 7 107545799 107545799 T C intronic DLD NA NA NA intronic ENSG00000091140 NA NA NA NA NA 7q31.1 NA NA NA NA rs10263341 0.72 0.72 0.745 0.716054 0.5805 0.8591 0.647 0.8487 0.5777 0.57 0.86 0.62 0.85 0.6182 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 1.106765 NA NA 0.57839 0.785422 NA 0.783 NA 2.22291 1438 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 1438 6 146244743 146244743 A G intronic SHPRH NA NA NA intronic ENSG00000146414 NA NA NA NA NA 6q24.3 NA NA NA NA rs6923545 0.68 0.68 0.651 0.661941 0.5924 0.745 0.7594 0.7322 0.4836 0.59 0.72 0.74 0.72 0.6044 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073984 NA NA 0.582269 0.727802 NA 0.688 NA 2.220931 1438 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 1438 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 1438 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 1438 17 60767151 60767151 C T intronic MRC2 NA NA NA intronic ENSG00000011028 NA NA NA NA NA 17q23.2 NA NA NA NA rs740698 0.54 0.54 0.519 0.4998 0.5726 0.6647 0.5778 0.3101 0.456 0.57 0.67 0.52 0.35 0.6155 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 2.21147 2.21147 NA 0.5932 0.408579 NA 0.543 NA 2.2187 1438 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 1438 11 18736942 18736942 G A intronic IGSF22 NA NA NA ncRNA_intronic ENSG00000254966 NA NA NA NA NA 11p15.1 NA NA NA NA rs3887900 0.66 0.66 0.63 0.61881 0.7306 0.748 0.6455 0.4561 0.5716 0.73 0.74 0.66 0.47 0.6796 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.209509 NA NA 0.704897 0.489474 NA 0.529 NA 2.2182363 1438 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 1438 16 71218926 71218926 T A intronic HYDIN NA NA NA intronic ENSG00000157423 NA NA NA NA NA 16q22.2 NA NA NA NA rs3785347 0.74 0.74 0.737 0.773962 0.5517 0.7778 0.7349 0.9766 0.7526 0.54 0.8 0.74 0.97 0.6558 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 1.208995 NA NA 0.574651 0.912875 NA 0.732 NA 2.217849 1438 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 1438 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 1438 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 1438 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 1438 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 1438 7 146997203 146997203 T A ncRNA_intronic MIR548I4 NA NA NA intronic ENSG00000174469 NA NA NA NA NA 7q35 NA NA NA NA rs2692185 0.79 0.79 0.778 0.79972 0.6938 0.7758 0.7738 0.9682 0.7239 0.7 0.77 0.76 0.96 0.7344 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 0.796804 NA NA 0.689302 0.928053 NA 0.739 NA 2.2158313 1438 11 71189436 71189436 T C intronic NADSYN1 NA NA NA intronic ENSG00000172890 NA NA NA NA NA 11q13.4 NA NA Name=11 NA rs2276353 0.87 0.87 0.888 0.801717 0.9563 0.8284 0.7435 0.8275 0.6217 0.96 0.87 0.78 0.8 0.882 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 1.004529 NA NA 0.945971 0.841913 NA 0.833 NA 2.215729 1438 15 90190048 90190048 A G intronic KIF7 NA NA NA intronic ENSG00000166813 NA NA NA NA NA 15q26.1 NA NA NA NA rs1110060 0.54 0.54 0.523 0.511781 0.6024 0.3482 0.4769 0.6135 0.4744 0.61 0.38 0.54 0.62 0.5697 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.527724 1.527724 NA 0.612235 0.630682 NA 0.558 NA 2.215665 1438 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 1438 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 1438 11 429659 429659 C T intronic ANO9 NA NA NA intronic ENSG00000185101 NA NA NA NA NA 11p15.5 NA NA NA NA rs7111432 0.52 0.52 0.49 0.517772 0.6243 0.37 0.513 0.5461 0.5256 0.62 0.36 0.51 0.55 0.5625 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.281675 NA NA 0.597971 0.580036 NA 0.486 NA 2.215229 1439 14 102549839 102549839 A G intronic HSP90AA1 NA NA NA intronic ENSG00000080824 NA NA NA NA NA 14q32.31 NA NA Name=6 NA rs7155973 0.94 0.94 0.936 0.933906 0.9175 1 0.9568 0.8654 0.9591 0.93 1 0.94 0.87 0.9372 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.215724 NA NA 0.930333 0.889873 NA 0.913 NA 2.214967 1439 15 74628242 74628242 C T intronic CCDC33 NA NA NA UTR3 ENSG00000140481 ENST00000558821:c.*729C>T,ENST00000268082:c.*729C>T NA NA NA NA 15q24.1 NA NA NA NA rs900802 0.51 0.51 0.529 0.490016 0.666 0.3571 0.4006 0.5068 0.4867 0.67 0.34 0.47 0.5 0.5951 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 0.232382 NA NA 0.691187 0.536663 NA 0.471 NA 2.2143797 1439 4 8009759 8009759 G A UTR3 ABLIM2 NM_001130088:c.*10C>T NA NA UTR3 ENSG00000163995 ENST00000428004:c.*10C>T NA NA NA NA 4p16.1 NA NA NA NA rs17180256 0.76 0.76 0.768 0.769369 0.7167 0.7976 0.7104 0.8585 0.7157 0.73 0.77 0.71 0.86 0.7204 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 -0.527497 NA NA 0.682278 0.83527 NA 0.725 NA 2.2139554 1439 12 113444418 113444418 T C intronic OAS2 NA NA NA ncRNA_intronic ENSG00000257452 NA NA NA NA NA 12q24.13 NA NA NA NA rs929291 0.75 0.75 0.733 0.782149 0.6859 0.9167 0.7781 0.73 0.816 0.69 0.9 0.75 0.67 0.7498 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 0.769858 NA NA 0.684186 0.727417 NA 0.696 NA 2.2134473 1439 17 76506607 76506607 G A intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA NA NA rs867654 0.58 0.58 0.62 0.571486 0.6004 0.4603 0.451 0.7088 0.5562 0.62 0.47 0.5 0.72 0.5707 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.437078 NA NA 0.615787 0.705649 ID=COSN165536;OCCURENCE=1(NS) 0.688 NA 2.213113 1439 7 130148507 130148507 G A intronic COPG2 NA NA NA upstream;downstream ENSG00000158623;ENSG00000270953 NA NA NA NA NA 7q32.2 NA NA NA NA rs2072575 0.45 0.45 0.392 0.416733 0.5457 0.6062 0.5245 0.0514 0.5061 0.54 0.63 0.51 0.08 0.5354 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.569915 2.569915 NA 0.53936 0.1174 NA 0.406 NA 2.2128733 1439 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 1439 17 61621805 61621805 T G intronic KCNH6 NA NA NA intronic ENSG00000173826 NA NA NA NA NA 17q23.3 NA NA NA NA rs8070334 0.58 0.58 0.578 0.558906 0.6103 0.3413 0.4726 0.8578 0.3875 0.61 0.35 0.53 0.83 0.5838 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 1.118365 NA NA 0.593408 0.805328 NA 0.63 NA 2.212492 1439 3 54961949 54961949 C T UTR5 LRTM1 NM_020678:c.-11G>A NA NA UTR5 ENSG00000144771 ENST00000273286:c.-11G>A NA NA NA NA 3p14.3 NA NA NA NA rs4245920 0.8 0.8 0.803 0.796526 0.7147 0.8512 0.8386 0.8351 0.7423 0.71 0.87 0.83 0.86 0.7326 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 1.22569 NA NA 0.673953 0.821153 NA 0.761 NA 2.2120804 1439 9 130488494 130488494 C T intronic TTC16 NA NA NA intronic ENSG00000167094 NA NA NA NA NA 9q34.11 NA NA NA NA rs538927 0.59 0.59 0.583 0.616014 0.6064 0.3661 0.6037 0.7837 0.6656 0.61 0.38 0.6 0.78 0.6042 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 0.684399 NA NA 0.577692 0.738311 NA 0.688 NA 2.211708 1439 20 46267950 46267950 C T intronic NCOA3 NA NA NA intronic ENSG00000124151 NA NA NA Score=415;Name=lod=65 NA 20q13.12 NA NA NA NA rs4810648 0.97 0.97 0.975 0.978435 0.9284 1 0.9784 0.9977 0.9816 0.92 1 0.98 1 0.9411 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.85551 NA NA 0.919051 0.982751 NA 0.993 NA 2.211449 1439 3 71015021 71015021 G T intronic FOXP1 NA NA NA intronic ENSG00000114861 NA NA NA NA NA 3p13 NA NA NA NA rs7638391 0.96 0.96 0.956 0.974641 0.9235 1 0.9654 0.997 0.9775 0.92 1 0.95 0.99 0.9452 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.653785 NA NA 0.92 0.982751 NA 0.862 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082307.1;CLNDSDB=.;CLNDSDBID=. 2.2113 1439 5 142513686 142513686 A G intronic ARHGAP26 NA NA NA intronic ENSG00000145819 NA NA NA NA NA 5q31.3 NA NA NA NA rs246607 0.5 0.5 0.497 0.502796 0.6272 0.3591 0.4049 0.5174 0.5726 0.64 0.33 0.44 0.5 0.5453 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.805619 NA NA 0.616395 0.515433 NA 0.42 NA 2.211105 1439 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 1439 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 1439 17 3989968 3989968 C T intronic ZZEF1 NA NA NA intronic ENSG00000074755 NA NA NA NA NA 17p13.2 NA NA NA NA rs2727060 0.53 0.53 0.478 0.528754 0.5974 0.752 0.5893 0.1838 0.6513 0.6 0.73 0.56 0.18 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 -1.217613 NA NA 0.602674 0.241144 NA 0.507 NA 2.209626 1439 11 48157869 48157869 T C intronic PTPRJ NA NA NA intronic ENSG00000149177 NA NA NA NA NA 11p11.2 NA NA NA NA rs2270994 0.5 0.5 0.436 0.455272 0.6113 0.4861 0.6628 0.115 0.5757 0.62 0.55 0.66 0.13 0.5761 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 0.675481 NA NA 0.603071 0.203998 NA 0.442 NA 2.209529 1439 1 169498834 169498834 T C intronic F5 NA NA NA intronic ENSG00000198734 NA NA NA NA NA 1q24.2 NA Name=JunD,ERalpha_a,eGFP-JunD,GATA3_(SC-268),p300_(N-15),Pol2-4H8,p300,GATA-2 NA NA rs6009 0.91 0.91 0.927 0.936302 0.9324 1 0.9496 0.8805 0.9407 0.93 0.92 0.94 0.85 0.9326 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 1.171249 NA NA 0.925581 0.89832 NA 0.819 NA 2.209419 1439 2 25602142 25602142 G A intronic DTNB NA NA NA intronic ENSG00000138101 NA NA NA NA NA 2p23.3 NA NA NA NA rs2304426 0.47 0.47 0.461 0.483227 0.5944 0.1528 0.4164 0.6278 0.5613 0.59 0.15 0.48 0.64 0.5621 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.613974 NA NA 0.634143 0.654144 NA 0.572 NA 2.209357 1439 16 68729112 68729112 A G intronic CDH3 NA NA NA intronic ENSG00000062038 NA NA NA NA NA 16q22.1 NA NA NA NA rs8060790 0.57 0.57 0.559 0.538938 0.6103 0.4772 0.5331 0.5174 0.5624 0.61 0.53 0.56 0.55 0.5658 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.481335 NA NA 0.615 0.528435 NA 0.645 NA 2.2089 1439 7 83034754 83034754 T A intronic SEMA3E NA NA NA intronic ENSG00000170381 NA NA NA NA NA 7q21.11 NA NA NA NA rs2245441 0.56 0.56 0.506 0.555112 0.5984 0.8413 0.6787 0.1339 0.6973 0.6 0.84 0.64 0.12 0.6063 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 3.33543 3.33543 NA 0.58686 0.212211 NA 0.478 NA 2.20844 1439 16 89291948 89291948 C T intronic ZNF778 NA NA NA intronic ENSG00000170100 NA NA NA NA NA 16q24.3 NA NA NA NA rs12926996 0.83 0.83 NA 0.769768 0.9254 0.8948 0.9107 0.4977 0.7485 0.93 0.91 0.91 0.54 0.8662 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 -0.991978 NA NA NA NA NA 0.79 NA 2.2084 1439 16 89291951 89291951 C T intronic ZNF778 NA NA NA intronic ENSG00000170100 NA NA NA NA NA 16q24.3 NA NA NA NA rs12926997 0.83 0.83 NA 0.769768 0.9254 0.8948 0.9107 0.4977 0.7485 0.92 0.91 0.91 0.54 0.8663 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 -0.358679 NA NA NA NA NA 0.065 NA 2.2083 1439 7 144462951 144462951 C T intronic TPK1 NA NA NA intronic ENSG00000196511 NA NA NA NA NA 7q35 NA NA NA NA rs3779087 0.71 0.71 0.739 0.742013 0.5527 0.7996 0.6859 0.8835 0.726 0.58 0.78 0.67 0.87 0.6528 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 1.097767 NA NA 0.586203 0.852701 NA 0.739 NA 2.208297 1439 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 1439 11 9096189 9096189 G C intronic SCUBE2 NA NA NA intronic ENSG00000175356 NA NA NA NA NA 11p15.4 NA NA NA NA rs7930311 0.41 0.41 0.393 0.362819 0.6292 0.3313 0.4265 0.1157 0.41 0.63 0.34 0.47 0.13 0.5245 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.291398 2.291398 NA 0.638152 0.207179 NA 0.493 NA 2.208148 1439 7 83036367 83036367 C G intronic SEMA3E NA NA NA intronic ENSG00000170381 NA NA NA NA NA 7q21.11 NA NA NA NA rs2245312 0.56 0.56 0.521 0.555112 0.5984 0.8413 0.6787 0.1339 0.6973 0.6 0.84 0.64 0.12 0.6058 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 0.85469 NA NA 0.587674 0.211757 NA 0.478 NA 2.208126 1439 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 1439 11 59830103 59830103 A G intronic MS4A3 NA NA NA intronic ENSG00000149516 NA NA NA NA NA 11q12.1 NA NA NA NA rs481950 0.56 0.56 0.549 0.56849 0.5785 0.7034 0.6599 0.3404 0.6626 0.59 0.67 0.64 0.34 0.6163 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 -0.2769 NA NA 0.597439 0.357792 NA 0.587 NA 2.207761 1439 15 80452075 80452075 T C intronic FAH NA NA NA intronic ENSG00000103876 NA NA NA NA NA 15q25.1 NA NA NA NA rs1370274 0.62 0.62 0.649 0.632987 0.5855 0.7867 0.4856 0.59 0.6861 0.59 0.77 0.51 0.57 0.6098 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 0.792654 NA NA 0.597093 0.613482 NA 0.609 NA 2.207607 1439 8 133920624 133920624 C G intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA NA NA NA rs853318 0.42 0.42 0.326 0.397564 0.6093 0.3571 0.5836 0.0703 0.5317 0.62 0.35 0.57 0.09 0.5692 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.214536 NA NA 0.614535 0.162052 NA 0.413 NA 2.206965 1439 7 83036602 83036602 T A intronic SEMA3E NA NA NA intronic ENSG00000170381 NA NA NA NA NA 7q21.11 NA NA NA NA rs2709941 0.56 0.56 0.509 0.555312 0.5984 0.8413 0.6801 0.1339 0.6973 0.6 0.84 0.64 0.12 0.6092 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 0.30915 NA NA 0.586339 0.214675 NA 0.478 NA 2.206061 1439 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 1439 12 56477694 56477694 A T intronic ERBB3 NA NA NA intronic ENSG00000065361 NA NA NA NA NA 12q13.2 NA NA NA NA rs2271194 0.58 0.58 0.556 0.592252 0.5915 0.7808 0.7046 0.2859 0.7331 0.59 0.73 0.67 0.32 0.6173 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 -0.519129 NA NA 0.58593 0.31911 NA 0.551 NA 2.20527 1439 6 152671475 152671475 A C intronic SYNE1 NA NA NA intronic ENSG00000131018 NA NA NA NA NA 6q25.2 NA NA NA NA rs9478320 0.61 0.61 0.586 0.58746 0.6004 0.6171 0.6282 0.584 0.5194 0.6 0.61 0.62 0.61 0.5846 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.680987 NA NA 0.609767 0.569678 NA 0.674 NA 2.205233 1439 1 158507157 158507157 A T intergenic OR10R2,OR6Y1 dist=56482;dist=9761 NA NA intergenic ENSG00000231434,ENSG00000197532 dist=11529;dist=9761 NA NA NA NA 1q23.1 NA NA NA NA rs2051665 0.6 0.6 0.591 0.567292 0.5755 0.5754 0.4697 0.6846 0.4611 0.59 0.61 0.47 0.72 0.5527 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.399807 NA NA NA NA NA 0.623 NA 2.2051334 1440 12 133210985 133210985 C T intronic POLE NA NA NA intronic ENSG00000177084 NA NA NA NA NA 12q24.33 NA NA NA NA rs5745005 0.7 0.7 0.695 0.713458 0.5656 0.7788 0.7464 0.8389 0.6053 0.56 0.79 0.72 0.81 0.6448 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 -0.42028 NA NA 0.584767 0.796641 NA 0.739 NA 2.204833 1440 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 1440 3 170198967 170198967 G A intronic SLC7A14 NA NA NA intronic ENSG00000013293,ENSG00000013297 NA NA NA NA NA 3q26.2 NA NA NA NA rs1861939 0.46 0.46 0.418 0.440895 0.6034 0.4673 0.4683 0.171 0.592 0.6 0.46 0.5 0.23 0.5694 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.972721 NA NA 0.623372 0.241716 NA 0.478 NA 2.203828 1440 9 131570178 131570178 T C UTR3 TBC1D13 NM_018201:c.*20T>C NA NA UTR3 ENSG00000107021 ENST00000372648:c.*20T>C,ENST00000539497:c.*20T>C,ENST00000223865:c.*20T>C NA NA NA NA 9q34.11 NA NA NA NA rs45609236 0.64 0.64 0.582 0.590056 0.7266 0.6647 0.7622 0.3812 0.5327 0.76 0.63 0.74 0.39 0.6797 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 0.742268 NA NA 0.723488 0.446664 NA 0.58 NA 2.2035454 1440 1 236723177 236723177 G A intronic HEATR1 NA NA NA intronic ENSG00000119285 NA NA NA NA NA 1q43 NA NA NA NA rs10754576 0.43 0.43 0.409 0.429113 0.6362 0.4772 0.4784 0.2277 0.4039 0.54 0.45 0.47 0.2 0.5637 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.19968 NA NA 0.596628 0.267363 NA NA NA 2.203472 1440 1 236723178 236723178 C A intronic HEATR1 NA NA NA intronic ENSG00000119285 NA NA NA NA NA 1q43 NA NA NA NA rs10754577 0.42 0.42 0.413 0.429113 0.6362 0.4772 0.4784 0.2277 0.4039 0.53 0.44 0.46 0.19 0.5639 0.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.293508 NA NA 0.596628 0.267363 NA NA NA 2.203272 1440 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 1440 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 1440 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 1440 22 32937740 32937740 T C intronic SYN3 NA NA NA intronic ENSG00000185666 NA NA NA NA NA 22q12.3 NA NA NA NA rs135479 0.59 0.59 0.635 0.642173 0.5606 0.8065 0.6599 0.5499 0.6687 0.53 0.73 0.6 0.49 0.6302 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 -0.108126 NA NA 0.606512 0.564004 NA 0.601 NA 2.202688 1440 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 1440 6 13794110 13794110 C A intronic MCUR1 NA NA NA intronic ENSG00000050393 NA NA NA NA NA 6p23 NA NA NA NA rs4715568 0.62 0.62 0.613 0.617013 0.6034 0.5347 0.5403 0.7277 0.6207 0.6 0.52 0.6 0.78 0.5943 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 -0.735851 NA NA 0.599791 0.723433 NA 0.623 NA 2.202509 1440 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 1440 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 1440 11 117266754 117266754 A C intronic CEP164 NA NA NA intronic ENSG00000110274 NA NA NA NA NA 11q23.3 NA NA NA NA rs693147 0.53 0.53 0.534 0.527356 0.6233 0.3889 0.4078 0.6543 0.4847 0.62 0.38 0.46 0.63 0.5519 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.040378 NA NA 0.623254 0.636756 NA 0.514 NA 2.201546 1440 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 1440 20 60895738 60895738 A G intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA Name=Pol2,GR NA NA rs6089346 0.89 0.89 0.897 0.857029 0.9374 0.9802 0.9366 0.6868 0.8211 0.93 0.98 0.93 0.7 0.9118 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 0.55707 NA NA 0.949591 0.75277 NA 0.812 NA 2.201209 1440 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 1440 12 133214768 133214768 A G intronic POLE NA NA NA intronic ENSG00000177084 NA NA NA NA NA 12q24.33 NA NA NA NA rs5744970 0.72 0.72 0.71 0.729034 0.5666 0.7788 0.7493 0.8949 0.6063 0.56 0.79 0.73 0.87 0.6478 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 -0.858207 NA NA 0.584884 0.850204 NA 0.717 NA 2.200716 1440 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 1440 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 1440 17 39596402 39596402 G A intronic KRT38 NA NA NA intronic ENSG00000171360 NA NA NA NA NA 17q21.2 NA NA NA NA rs2071610 0.63 0.63 0.597 0.596046 0.6163 0.8452 0.6931 0.3601 0.5685 0.62 0.85 0.63 0.38 0.6045 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 -1.118692 NA NA 0.579302 0.405583 NA 0.551 NA 2.199898 1440 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 1440 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 1440 3 122807995 122807995 G A intronic PDIA5 NA NA NA intronic ENSG00000065485 NA NA NA NA NA 3q21.1 NA NA NA NA rs836860 0.47 0.47 0.476 0.451078 0.6352 0.496 0.4107 0.2489 0.5174 0.63 0.46 0.43 0.27 0.5566 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.296833 NA NA 0.608488 0.301861 NA 0.507 NA 2.199712 1440 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 1440 6 151247439 151247439 A G intronic MTHFD1L NA NA NA intronic ENSG00000120254 NA NA NA NA NA 6q25.1 NA NA Name=7 NA rs803455 0.93 0.93 0.94 0.93111 0.9344 0.88 0.8559 0.9841 0.9622 0.94 0.91 0.86 0.98 0.9295 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 -0.408469 NA NA 0.937442 0.979573 NA 0.92 NA 2.198658 1440 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 1440 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 1440 13 73329358 73329358 G A UTR3 BORA NM_024808:c.*4G>A NA NA UTR3 ENSG00000136122 ENST00000377815:c.*4G>A,ENST00000390667:c.*4G>A NA NA NA NA 13q22.1 NA NA NA NA rs10887 0.76 0.76 0.764 0.769369 0.6839 0.747 0.7637 0.8177 0.819 0.68 0.8 0.75 0.84 0.7361 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 0.125146 NA NA 0.716308 0.808094 NA 0.681 NA 2.1970254 1440 5 179765467 179765467 C T intronic GFPT2 NA NA NA intronic ENSG00000131459 NA NA NA NA NA 5q35.3 NA NA NA NA rs55946431 0.52 0.52 0.502 0.471845 0.6123 0.5298 0.5187 0.3321 0.4233 0.6 0.55 0.53 0.34 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 -0.481012 NA NA 0.634681 0.413467 NA 0.435 NA 2.195719 1440 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 1441 7 73275501 73275501 T C UTR5 WBSCR28 NM_182504:c.-24T>C NA NA UTR5 ENSG00000175877 ENST00000320531:c.-24T>C NA NA NA NA 7q11.23 NA NA NA NA rs11770024 0.61 0.61 0.596 0.576278 0.7247 0.63 0.6095 0.4024 0.5798 0.73 0.62 0.6 0.41 0.6655 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 -1.307093 NA NA 0.748192 0.506433 NA 0.399 NA 2.1949414 1441 2 228111604 228111604 G T ncRNA_intronic LOC654841 NA NA NA ncRNA_intronic ENSG00000236432 NA NA NA NA NA 2q36.3 NA NA NA NA rs10168567 0.79 0.79 0.747 0.776158 0.839 0.8978 0.8775 0.5242 0.8548 0.84 0.9 0.86 0.53 0.806 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 0.604802 NA NA 0.826971 0.55879 NA 0.681 NA 2.1946956 1441 5 354051 354051 T C intronic AHRR NA NA NA intronic ENSG00000063438 NA NA NA NA NA 5p15.33 NA NA NA NA rs2013782 0.49 0.49 0.48 0.508387 0.6123 0.2798 0.4928 0.5408 0.6043 0.61 0.31 0.5 0.5 0.5732 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.451806 NA NA 0.619834 0.568717 NA 0.522 NA 2.194666 1441 19 17302056 17302056 A G intronic MYO9B NA NA NA intronic ENSG00000099331 NA NA NA NA NA 19p13.11 NA NA NA NA rs962918 0.74 0.74 0.752 0.753594 0.5696 0.7222 0.8012 0.969 0.6503 0.57 0.76 0.78 0.94 0.6512 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 -0.876507 NA NA 0.58463 0.920515 NA 0.761 NA 2.19457 1441 1 65016349 65016349 A T intronic CACHD1 NA NA NA intronic ENSG00000158966 NA NA NA NA NA 1p31.3 NA NA Name=9 NA rs2164571 0.93 0.93 0.923 0.915735 0.9324 1 0.9409 0.7814 0.9755 0.94 1 0.95 0.81 0.9361 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.134071 NA NA 0.937181 0.795502 NA 0.833 NA 2.194319 1441 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 1441 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 1441 1 114280717 114280717 A C intronic PHTF1 NA NA NA intronic ENSG00000116793 NA NA NA NA NA 1p13.2 NA NA NA NA rs2273758 0.51 0.51 0.521 0.557109 0.6014 0.1667 0.4755 0.7708 0.683 0.59 0.16 0.53 0.77 0.5787 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 0.775412 NA NA 0.627907 0.729233 NA 0.609 NA 2.191993 1441 5 6020374 6020374 A G intergenic KIAA0947,FLJ33360 dist=530027;dist=290180 NA NA ncRNA_exonic ENSG00000261037 NA NA NA NA NA 5p15.32 NA NA NA NA rs464221 0.6 0.6 0.581 0.58746 0.5795 0.7381 0.6427 0.4644 0.5675 0.57 0.72 0.62 0.48 0.6355 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504765 NA NA 0.593041 0.466705 NA 0.442 NA 2.191959 1441 19 17301880 17301880 T C intronic MYO9B NA NA NA intronic ENSG00000099331 NA NA NA NA NA 19p13.11 NA NA NA NA rs4808072 0.74 0.74 0.759 0.753395 0.5686 0.7222 0.8012 0.969 0.6503 0.57 0.76 0.78 0.97 0.655 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 0.265876 NA NA 0.585037 0.918223 NA 0.754 NA 2.191363 1441 2 27164806 27164806 G A intronic DPYSL5 NA NA NA intronic ENSG00000157851 NA NA NA NA NA 2p23.3 NA NA NA NA rs3820823 0.6 0.6 0.593 0.608227 0.6203 0.6944 0.4452 0.5673 0.6779 0.64 0.64 0.46 0.59 0.5861 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.424893 NA NA 0.602326 0.585338 NA 0.558 NA 2.191274 1441 6 155579246 155579246 A C intronic TFB1M NA NA NA intronic ENSG00000029639 NA NA NA NA NA 6q25.3 NA NA NA NA rs3734322 0.74 0.74 0.711 0.744209 0.5726 0.9851 0.7536 0.7186 0.7004 0.58 0.98 0.73 0.71 0.6512 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 -0.360174 NA NA 0.585116 0.707444 NA 0.667 NA 2.191084 1441 12 123281967 123281967 G A intronic CCDC62 NA NA NA intronic ENSG00000130783 NA NA NA NA NA 12q24.31 NA NA Name=2 NA rs10744394 0.9 0.9 0.883 0.861222 0.9414 0.9871 0.9568 0.6891 0.8139 0.94 0.98 0.95 0.71 0.9134 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 -0.873478 NA NA 0.954302 0.739673 NA 0.87 NA 2.190898 1441 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 1441 2 228111600 228111600 G T ncRNA_intronic LOC654841 NA NA NA ncRNA_intronic ENSG00000236432 NA NA NA NA NA 2q36.3 NA NA NA NA rs10168566 0.79 0.79 0.747 0.776158 0.839 0.8978 0.8775 0.5242 0.8548 0.84 0.9 0.86 0.53 0.8099 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 0.348192 NA NA 0.827223 0.557648 NA 0.681 NA 2.1905436 1441 8 1900855 1900855 A G intronic ARHGEF10 NA NA NA intronic ENSG00000104728 NA NA NA NA NA 8p23.3 NA NA Name=3 NA rs7832438 0.94 0.94 0.927 0.949481 0.9245 0.998 0.9207 0.9145 0.9928 0.93 1 0.9 0.92 0.9491 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.826405 NA NA 0.935871 0.920264 NA 0.899 NA 2.190529 1441 1 67145322 67145322 C A intronic SGIP1 NA NA NA intronic ENSG00000118473 NA NA NA NA NA 1p31.3 NA NA NA NA rs10889644 0.73 0.73 0.734 0.774161 0.5606 1 0.7435 0.6831 0.9059 0.56 1 0.73 0.68 0.6778 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294746 NA NA 0.571279 0.651611 NA 0.717 NA 2.190321 1441 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 1441 11 10824731 10824731 C T intronic EIF4G2 NA NA NA intronic ENSG00000110321 NA NA NA NA NA 11p15.3 NA NA NA NA rs2270620 0.51 0.51 0.452 0.515775 0.6064 0.5754 0.6974 0.1551 0.7198 0.59 0.59 0.67 0.17 0.6047 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 -0.271768 NA NA 0.598626 0.216947 NA 0.478 NA 2.190274 1441 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 1441 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 1441 17 7251605 7251605 G C intronic ACAP1 NA NA NA intronic ENSG00000072818 NA NA NA NA NA 17p13.1 NA NA NA NA rs2292066 0.5 0.5 0.474 0.494609 0.6213 0.1845 0.5793 0.6218 0.4519 0.61 0.23 0.56 0.62 0.5657 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.197473 NA NA 0.625 0.61734 NA 0.58 NA 2.188 1441 16 1374818 1374818 A G UTR3 UBE2I NM_194261:c.*24A>G,NM_194260:c.*24A>G,NM_194259:c.*24A>G,NM_003345:c.*24A>G NA NA UTR3 ENSG00000103275 ENST00000355803:c.*24A>G,ENST00000325437:c.*24A>G,ENST00000397514:c.*24A>G,ENST00000397515:c.*24A>G,ENST00000403747:c.*24A>G,ENST00000566587:c.*24A>G,ENST00000406620:c.*24A>G NA NA NA NA 16p13.3 NA NA NA NA rs8063 0.68 0.68 0.669 0.663339 0.7147 0.9534 0.6571 0.348 0.7423 0.69 0.96 0.67 0.35 0.7085 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 -0.895329 NA NA 0.72314 0.431787 NA 0.667 NA 2.1869934 1441 1 154479670 154479670 C T intronic TDRD10 NA NA NA intronic ENSG00000163239 NA NA NA NA NA 1q21.3 NA NA NA NA rs6664608 0.55 0.55 0.518 0.510383 0.5934 0.7401 0.7089 0.118 0.5777 0.59 0.77 0.65 0.14 0.5981 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 -0.507245 NA NA 0.621971 0.1875 NA 0.442 NA 2.186529 1441 22 26298754 26298754 G A intronic MYO18B NA NA NA intronic ENSG00000133454 NA NA NA NA NA 22q12.1 NA NA NA NA rs2072016 0.85 0.85 0.887 0.84405 0.8946 0.7599 0.7291 0.9743 0.7843 0.9 0.76 0.75 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 -0.401325 NA NA 0.919162 0.967058 NA 0.884 NA 2.186238 1441 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 1442 16 81902797 81902797 A G intronic PLCG2 NA NA NA intronic ENSG00000197943 NA NA NA NA NA 16q23.3 NA NA NA NA rs12445580 0.52 0.52 0.486 0.512979 0.6103 0.5119 0.572 0.3321 0.6166 0.61 0.49 0.58 0.36 0.5921 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.841369 NA NA 0.614048 0.423057 NA 0.601 NA 2.183552 1442 17 953456 953456 C T intronic ABR NA NA NA intronic ENSG00000159842 NA NA NA NA NA 17p13.3 NA NA NA NA rs2257540 0.49 0.49 0.478 0.498003 0.5994 0.5149 0.5447 0.2753 0.6442 0.61 0.45 0.54 0.3 0.5757 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471143 NA NA 0.641744 0.345892 NA 0.623 NA 2.183156 1442 1 247419664 247419664 C T exonic VN1R5 NA unknown UNKNOWN ncRNA_exonic ENSG00000197617 NA NA NA NA NA 1q44 NA NA NA NA rs1778541 0.78 0.78 0.753 0.771965 0.8887 0.8353 0.889 0.5151 0.8507 0.88 0.83 0.88 0.49 0.8576 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 -0.836689 NA NA 0.904187 0.591182 NA 0.696 NA 2.1828463 1442 10 105215016 105215016 A G UTR3 CALHM1 NM_001001412:c.*3T>C NA NA ncRNA_UTR3 ENSG00000185933 NA NA NA NA NA 10q24.33 NA NA NA NA rs2986016 0.85 0.85 0.868 0.880192 0.7545 0.8849 0.8386 0.9788 0.9008 0.75 0.91 0.83 0.97 0.8173 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 0.137102 NA NA 0.745577 0.935315 NA 0.913 NA 2.182623 1442 20 2593006 2593006 A G intronic TMC2 NA NA NA intronic ENSG00000149488 NA NA NA NA NA 20p13 NA NA NA NA rs1015159 0.63 0.63 0.614 0.650559 0.5984 0.8165 0.6398 0.4856 0.7638 0.59 0.81 0.64 0.49 0.6308 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 1.492665 1.492665 NA 0.588256 0.497276 NA 0.435 NA 2.182544 1442 1 247419509 247419509 T C exonic VN1R5 NA unknown UNKNOWN ncRNA_exonic ENSG00000197617 NA NA NA NA NA 1q44 NA NA NA NA rs1778540 0.79 0.79 0.762 0.781949 0.8877 0.8353 0.8919 0.5582 0.8425 0.88 0.83 0.88 0.54 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 -0.766149 NA NA 0.903384 0.611806 NA 0.696 NA 2.1824493 1442 12 11461836 11461836 T C intronic PRB4 NA NA NA intronic ENSG00000230657 NA NA NA NA NA 12p13.2 NA NA NA NA rs6488386 0.91 0.91 0.924 0.89976 0.9205 0.9296 0.915 0.8865 0.8548 0.92 0.92 0.92 0.88 0.8972 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 -0.929587 NA NA NA NA NA 0.906 NA 2.1823 1442 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 1442 3 146307635 146307635 C A intronic PLSCR5 NA NA NA ncRNA_intronic ENSG00000241457 NA NA NA NA NA 3q24 NA NA NA NA rs343289 0.73 0.73 0.734 0.714457 0.7276 0.747 0.6369 0.7564 0.6656 0.73 0.76 0.65 0.76 0.7121 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 1.24109 1.24109 NA 0.711752 0.76257 NA 0.732 NA 2.1818813 1442 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 1442 9 130914170 130914170 C G intronic LCN2 NA NA NA intronic ENSG00000148346 NA NA NA NA NA 9q34.11 NA NA NA NA rs11794980 0.5 0.5 0.406 0.479233 0.6153 0.5 0.7262 0.1142 0.636 0.64 0.48 0.74 0.15 0.5814 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.420647 NA NA 0.62186 0.190422 NA 0.507 NA 2.18144 1442 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 1442 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 1442 12 76453873 76453873 C T intronic NAP1L1 NA NA NA intronic ENSG00000187109 NA NA NA NA NA 12q21.2 NA NA NA NA rs10880030 0.61 0.61 0.593 0.592053 0.5924 0.9554 0.6196 0.2685 0.635 0.6 0.97 0.55 0.27 0.6241 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 -0.229345 NA NA 0.602498 0.335604 NA 0.471 NA 2.181002 1442 1 17418894 17418894 A G intronic PADI2 NA NA NA intronic ENSG00000117115 NA NA NA NA NA 1p36.13 NA NA NA NA rs2273111 0.5 0.5 0.494 0.48722 0.6332 0.4048 0.4986 0.4266 0.4959 0.63 0.43 0.54 0.38 0.5613 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.604256 2.604256 NA 0.624535 0.460281 NA 0.572 NA 2.180965 1442 1 161163633 161163633 C T intronic ADAMTS4 NA NA NA intronic ENSG00000158859 NA NA NA NA NA 1q23.3 NA NA NA NA rs3813622 0.68 0.68 0.7 0.702476 0.5875 0.8909 0.7061 0.5893 0.7771 0.58 0.92 0.66 0.59 0.6489 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 -1.343848 NA NA 0.582674 0.596232 NA 0.609 NA 2.180926 1442 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 1442 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 1442 14 23044002 23044002 G T UTR3 DAD1 NM_001344:c.*1C>A NA NA UTR3 ENSG00000129562 ENST00000250498:c.*1C>A,ENST00000535847:c.*56C>A,ENST00000543337:c.*1C>A NA NA NA NA 14q11.2 NA NA NA NA rs7621 0.76 0.76 0.772 0.76258 0.7326 0.7599 0.7161 0.8116 0.7628 0.72 0.78 0.72 0.81 0.7153 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 1.856689 1.856689 NA 0.706163 0.778938 NA 0.558 NA 2.1792704 1442 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 1442 2 204824283 204824283 T G intronic ICOS NA NA NA intronic ENSG00000163600 NA NA NA NA NA 2q33.2 NA NA NA NA rs10172036 0.54 0.54 0.524 0.515375 0.6203 0.4534 0.5418 0.4841 0.4949 0.62 0.48 0.53 0.49 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 0.479387 NA NA 0.627209 0.526101 NA 0.493 NA 2.178791 1442 12 76461137 76461137 T C intronic NAP1L1 NA NA NA intronic ENSG00000187109 NA NA NA NA NA 12q21.2 NA NA NA NA rs10785227 0.62 0.62 0.588 0.601038 0.5924 0.9554 0.6225 0.2995 0.637 0.6 0.97 0.55 0.31 0.6254 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 3.555374 3.555374 NA 0.603837 0.353609 NA 0.486 NA 2.178363 1442 8 21955552 21955552 T C intronic FAM160B2 NA NA NA intronic ENSG00000158863 NA NA NA NA NA 8p21.3 NA NA NA NA rs1973254 0.6 0.6 0.561 0.580671 0.6064 0.63 0.7277 0.4554 0.5685 0.62 0.62 0.7 0.48 0.6263 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 0.64876 NA NA 0.589135 0.50499 NA 0.507 NA 2.178165 1442 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 1442 11 61906299 61906299 A G intronic INCENP NA NA NA intronic ENSG00000149503 NA NA NA NA NA 11q12.3 NA NA NA NA rs1614060 0.71 0.71 0.725 0.689497 0.9095 0.4752 0.7478 0.6664 0.6738 0.9 0.43 0.77 0.68 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 -0.339893 NA NA 0.913262 0.71604 ID=COSN163969;OCCURENCE=1(breast) 0.754 NA 2.177238 1442 1 17419066 17419066 T C intronic PADI2 NA NA NA intronic ENSG00000117115 NA NA NA NA NA 1p36.13 NA NA NA NA rs11203298 0.5 0.5 0.502 0.48742 0.6332 0.4048 0.4986 0.4274 0.4959 0.63 0.43 0.54 0.38 0.5646 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.203416 NA NA 0.625 0.460281 NA 0.58 NA 2.1772 1442 14 20920340 20920340 A G intronic OSGEP NA NA NA intronic ENSG00000092094 NA NA NA NA NA 14q11.2 NA NA NA NA rs2275006 0.57 0.57 0.579 0.554712 0.6322 0.4524 0.4524 0.6293 0.5521 0.63 0.44 0.52 0.67 0.5827 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 0.637309 NA NA 0.608256 0.608942 NA 0.58 NA 2.176844 1442 X 19478294 19478294 T A intronic MAP3K15 NA NA NA intronic ENSG00000180815 NA NA NA NA NA Xp22.12 NA NA NA NA rs5909118 0.91 0.91 NA NA NA NA NA NA NA 0.93 0.99 0.91 0.8 0.9196 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 0.994236 NA NA 0.903601 0.772364 NA 0.638 NA 2.176799 1442 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 1442 16 68718750 68718750 A G intronic CDH3 NA NA NA intronic ENSG00000062038 NA NA NA NA NA 16q22.1 NA NA NA NA rs2281850 0.62 0.62 0.621 0.598043 0.6173 0.5536 0.5476 0.6672 0.5665 0.62 0.58 0.57 0.69 0.5884 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 0.404297 NA NA 0.618488 0.670837 NA 0.703 NA 2.175812 1442 15 34156312 34156312 T C intronic RYR3 NA NA NA ncRNA_intronic ENSG00000259287 NA NA NA NA NA 15q14 NA NA NA NA rs11072760 0.55 0.55 0.506 0.509385 0.7495 0.4077 0.7291 0.264 0.5429 0.77 0.42 0.68 0.26 0.6728 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 2.569281 2.569281 NA 0.735544 0.342549 NA 0.493 NA 2.1754893 1442 1 180257692 180257692 A C intronic ACBD6 NA NA NA intronic ENSG00000135847 NA NA NA NA NA 1q25.2 NA NA Name=7 NA rs2254465 0.96 0.96 0.943 0.951877 0.9404 0.9871 0.9582 0.9675 0.9018 0.95 0.99 0.94 0.96 0.9456 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 0.101553 NA NA 0.938837 0.965048 NA 0.92 NA 2.175163 1442 15 40583876 40583876 T G intronic PLCB2 NA NA NA UTR3 ENSG00000137841 ENST00000558588:c.*91A>C NA NA NA NA 15q15.1 Score=958;Name=V$MYOD_Q6 NA NA NA rs9972418 0.97 0.97 0.949 0.96905 1 1 0.9914 0.8873 1 1 1 0.99 0.86 0.9919 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.424883 NA NA 0.999634 0.911235 NA 0.906 NA 2.1751327 1443 22 18899016 18899016 G A intronic DGCR6 NA NA NA intronic ENSG00000183628 NA NA NA NA NA 22q11.21 NA NA NA NA rs428224 0.85 0.85 0.81 0.81889 0.9274 0.9097 0.9452 0.5484 0.8896 0.92 0.91 0.93 0.59 0.8977 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 0.480614 NA NA NA NA NA 0.754 NA 2.1749 1443 20 6100230 6100230 A C intronic FERMT1 NA NA NA intronic ENSG00000101311 NA NA NA NA NA 20p12.3 NA NA NA NA rs2273423 0.7 0.7 0.703 0.708466 0.6083 0.8452 0.6801 0.6316 0.7945 0.6 0.87 0.7 0.67 0.6356 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 1.655066 1.655066 NA 0.581977 0.632773 NA 0.652 NA 2.174123 1443 3 121339354 121339354 T C intronic FBXO40 NA NA NA intronic ENSG00000163833 NA NA NA NA NA 3q13.33 NA NA NA NA rs7640859 0.95 0.95 0.947 0.934505 0.9225 0.9464 0.9553 0.9773 0.862 0.93 0.96 0.95 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 -0.149614 NA NA 0.904777 0.971098 NA 0.877 NA 2.172723 1443 15 34152777 34152777 T A intronic RYR3 NA NA NA ncRNA_intronic ENSG00000259287 NA NA NA NA NA 15q14 NA NA NA NA rs2303310 0.52 0.52 0.477 0.478634 0.7495 0.4226 0.719 0.1407 0.544 0.77 0.42 0.67 0.14 0.6793 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 4.989621 4.989621 NA 0.732283 0.233297 NA 0.471 NA 2.1722503 1443 16 2510603 2510603 C T intronic C16orf59 NA NA NA UTR5 ENSG00000162062 ENST00000568753:c.-1626C>T NA NA NA NA 16p13.3 NA NA NA NA rs4786284 0.68 0.68 0.649 0.690695 0.6402 0.7728 0.7305 0.621 0.7239 0.63 0.74 0.69 0.67 0.6907 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.478696 NA NA 0.663539 0.641988 NA 0.616 NA 2.1722277 1443 14 23940086 23940086 A G intronic NGDN NA NA NA intronic ENSG00000129460 NA NA NA NA NA 14q11.2 NA NA NA NA rs1028588 0.88 0.88 NA 0.88758 0.9284 0.746 0.9121 0.9856 0.8415 0.92 0.75 0.88 0.98 0.8994 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 0.128656 NA NA NA NA NA 0.877 NA 2.1722 1443 10 17157630 17157630 C T intronic CUBN NA NA NA intronic ENSG00000107611 NA NA NA NA NA 10p13 NA Name=CTCF NA NA rs2295813 0.91 0.91 0.916 0.905751 0.9443 0.9276 0.902 0.8374 0.9387 0.94 0.93 0.9 0.84 0.9344 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 0.355228 NA NA 0.949186 0.865865 NA 0.848 NA 2.172114 1443 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 1443 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 1443 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 1443 5 36253937 36253937 G A intronic RANBP3L NA NA NA intronic ENSG00000164188 NA NA NA NA NA 5p13.2 NA NA Name=5 NA rs4869473 0.79 0.79 0.778 0.783746 0.9563 0.7083 0.8184 0.5749 0.9417 0.96 0.66 0.86 0.61 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 0.890953 NA NA 0.971621 0.651611 NA 0.819 NA 2.171479 1443 17 57094617 57094617 T C intronic TRIM37 NA NA NA intronic ENSG00000108395 NA NA NA NA NA 17q22 NA NA NA NA rs4932691 0.71 0.71 0.728 0.705072 0.5765 0.7153 0.7738 0.8563 0.5736 0.59 0.74 0.73 0.84 0.6519 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 0.748799 NA NA 0.600349 0.835225 NA 0.71 NA 2.171251 1443 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 1443 6 123038887 123038887 C G intronic PKIB NA NA NA UTR5 ENSG00000135549 ENST00000368446:c.-26C>G NA NA NA NA 6q22.31 NA NA NA NA rs6920792 0.94 0.94 NA 0.989018 1 1 0.9971 0.9599 1 0.95 0.95 0.93 0.91 0.9964 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 0.361639 NA NA NA NA NA NA NA 2.1702667 1443 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 1443 2 112705157 112705157 T C intronic MERTK NA NA NA intronic ENSG00000153208 NA NA NA NA NA 2q13 NA NA NA NA rs3761701 0.48 0.48 0.44 0.514776 0.6213 0.2788 0.5951 0.4932 0.6207 0.62 0.22 0.59 0.47 0.5845 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.70334 NA NA 0.624884 0.506128 NA 0.594 NA 2.169316 1443 6 155485535 155485535 G A intronic TIAM2 NA NA NA intronic ENSG00000146426 NA NA NA NA NA 6q25.2 NA NA NA NA rs1032140 0.57 0.57 0.526 0.569289 0.5994 0.5605 0.7464 0.3616 0.7025 0.59 0.58 0.74 0.39 0.6208 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292439 NA NA 0.61093 0.434408 NA 0.63 NA 2.16887 1443 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 1443 17 76395421 76395421 G A intronic PGS1 NA NA NA intronic ENSG00000087157 NA NA NA NA NA 17q25.3 NA NA NA NA rs2292643 0.59 0.59 0.561 0.581669 0.6233 0.5159 0.647 0.5825 0.5593 0.64 0.5 0.63 0.59 0.6026 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 -0.256596 NA NA 0.606505 0.592486 NA 0.667 NA 2.167595 1443 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 1443 9 133986980 133986980 T G intronic AIF1L NA NA NA UTR5 ENSG00000126878 ENST00000372301:c.-2992T>G NA NA NA NA 9q34.12 NA NA NA NA rs353526 1 1 1 0.9998 1 1 1 0.9992 1 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 1.542406 1.542406 NA NA NA NA 1 NA 2.1666667 1443 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 1443 5 33649637 33649637 G A intronic ADAMTS12 NA NA NA intronic ENSG00000151388 NA NA NA NA NA 5p13.3 NA NA NA NA rs4242082 0.58 0.58 0.57 0.540335 0.6014 0.7133 0.6066 0.3593 0.4969 0.59 0.71 0.62 0.37 0.5911 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.582984 NA NA 0.642326 0.437358 NA 0.478 NA 2.165174 1443 3 52506426 52506426 C T intronic NISCH NA NA NA intronic ENSG00000010322 NA NA NA NA Name=Waist-hip ratio 3p21.1 NA NA NA NA rs6784615 0.96 0.96 0.967 0.963059 0.9364 0.9782 0.9366 0.9917 0.955 0.94 0.98 0.93 0.99 0.9553 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 -1.004315 NA NA 0.94314 0.978892 NA 0.978 NA 2.16516 1444 11 4594739 4594739 C T intronic C11orf40 NA NA NA intronic ENSG00000171987 NA NA NA NA NA 11p15.4 NA NA NA NA rs919519 0.86 0.86 NA 0.848642 0.9215 0.9603 0.9078 0.5817 0.9775 0.93 0.96 0.9 0.62 0.9138 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 -0.180909 NA NA NA NA NA 0.855 NA 2.1647 1444 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 1444 8 119941173 119941173 A G intronic TNFRSF11B NA NA NA intronic ENSG00000164761 NA NA NA NA NA 8q24.12 NA NA Name=2 NA rs3134046 0.92 0.92 0.925 0.923722 0.9563 0.88 0.8876 0.9213 0.9642 0.95 0.88 0.9 0.91 0.9339 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 0.543042 NA NA 0.945465 0.919428 NA 0.92 NA 2.164335 1444 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 1444 19 59025685 59025685 A C intronic ZBTB45 NA NA NA intronic ENSG00000119574 NA NA NA NA NA 19q13.43 NA Name=TBP,Oct-2,c-Myc,Max,Mxi1_(bHLH),Pol2-4H8,TAF1,HEY1,HA-E2F1,Pol2,Pol2(phosphoS2),USF-1,E2F6,POU2F2,Ini1 NA NA rs4801602 0.89 0.89 0.909 0.871206 0.9553 0.8948 0.8329 0.789 0.8988 0.95 0.91 0.88 0.76 0.9185 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 0.901754 NA NA 0.963235 0.821624 NA 0.109 NA 2.162965 1444 19 8137102 8137102 G T intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs7256904 0.59 0.59 0.561 0.633387 0.6034 0.7103 0.5994 0.4849 0.8098 0.59 0.69 0.6 0.48 0.619 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 0.26278 NA NA 0.614651 0.505901 NA 0.638 NA 2.162949 1444 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 1444 17 74079838 74079838 A G intronic EXOC7 NA NA NA intronic ENSG00000182473 NA NA NA NA NA 17q25.1 NA NA NA NA rs2665986 0.58 0.58 0.574 0.611022 0.6213 0.5238 0.4899 0.649 0.7249 0.62 0.49 0.5 0.67 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 0.486938 NA NA 0.610581 0.635497 NA 0.471 NA 2.161919 1444 16 68716179 68716179 T C intronic CDH3 NA NA NA intronic ENSG00000062038 NA NA NA NA NA 16q22.1 NA NA NA NA rs1886697 0.61 0.61 0.617 0.596446 0.6183 0.5546 0.5461 0.6551 0.5736 0.62 0.58 0.57 0.67 0.6007 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 -0.134318 NA NA 0.619535 0.650819 NA 0.696 NA 2.161465 1444 1 86891005 86891005 C A intronic CLCA2 NA NA NA intronic ENSG00000137975 NA NA NA NA NA 1p22.3 NA NA NA NA rs1158506 0.57 0.57 0.547 0.555911 0.6113 0.5893 0.5677 0.475 0.5654 0.62 0.57 0.6 0.47 0.6018 0.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.884319 2.884319 NA 0.625439 0.499773 NA 0.522 NA 2.161461 1444 15 65496587 65496587 C T intronic CILP NA NA NA intronic ENSG00000138615 NA NA NA NA NA 15q22.31 NA NA NA NA rs2585034 0.5 0.5 0.506 0.477236 0.6471 0.2014 0.611 0.5582 0.3824 0.65 0.22 0.59 0.54 0.5558 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.901393 NA NA 0.635962 0.55134 NA 0.5 NA 2.161138 1444 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 1444 12 6942823 6942823 A G intronic LEPREL2 NA NA NA intronic ENSG00000110811 NA NA NA NA NA 12p13.31 NA NA NA NA rs4963512 0.79 0.79 0.79 0.816494 0.5954 0.9663 0.7752 0.9425 0.7485 0.58 0.98 0.74 0.92 0.6662 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 -0.302841 NA NA 0.577605 0.880582 NA 0.797 NA 2.160795 1444 17 4579638 4579638 G A intronic PELP1 NA NA NA ncRNA_intronic ENSG00000235085 NA NA NA NA NA 17p13.2 NA NA NA NA rs8071990 0.74 0.74 0.729 0.745407 0.7177 0.997 0.7666 0.469 0.8732 0.73 1 0.77 0.45 0.7521 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.31175 NA NA 0.703173 0.516995 NA 0.645 NA 2.1603603 1444 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 1444 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 1444 4 79531186 79531186 C T intronic ANXA3 NA NA NA intronic ENSG00000138772 NA NA NA NA NA 4q21.21 NA NA NA NA rs5944 0.52 0.52 0.491 0.480431 0.6521 0.627 0.4424 0.205 0.5521 0.64 0.65 0.47 0.2 0.5615 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.58669 NA NA 0.626628 0.288243 NA 0.348 NA 2.159772 1444 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 1444 X 9859197 9859197 A G intronic SHROOM2 NA NA NA intronic ENSG00000146950 NA NA NA NA NA Xp22.2 NA NA NA NA rs6640544 0.84 0.84 0.83625 NA NA NA NA NA NA 0.93 1 0.89 0.49 0.9019 1 NA NA 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 0.938578 0.519436 NA 0.58 NA 2.159522 1444 8 95746833 95746833 C G intronic DPY19L4 NA NA NA intronic ENSG00000156162 NA NA NA NA NA 8q22.1 NA NA NA NA rs7815731 0.56 0.56 0.567 0.535743 0.6083 0.3214 0.585 0.7012 0.4233 0.61 0.33 0.57 0.74 0.6103 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124089 NA NA 0.622442 0.686052 NA 0.623 NA 2.158958 1444 17 78219065 78219065 C A intronic SLC26A11 NA NA NA intronic ENSG00000181045 NA NA NA NA NA 17q25.3 NA NA NA NA rs7406843 0.62 0.62 0.577 0.608427 0.5765 0.9464 0.7392 0.1846 0.773 0.6 0.95 0.7 0.19 0.646 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 0.566565 NA NA 0.61907 0.267817 NA 0.522 NA 2.15843 1444 5 32379210 32379210 G A intronic ZFR NA NA NA intronic ENSG00000056097 NA NA NA NA NA 5p13.3 NA NA Name=4 NA rs1862636 0.94 0.94 0.951 0.91893 0.9553 0.8631 0.8775 0.9818 0.8834 0.95 0.91 0.92 0.98 0.9362 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 -1.509622 NA NA 0.950465 0.978438 NA 0.935 NA 2.158035 1444 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 1444 17 43131480 43131480 A T intronic DCAKD NA NA NA intronic ENSG00000136448,ENSG00000172992 NA NA NA NA NA 17q21.31 NA NA NA NA rs4793172 0.59 0.59 0.603 0.624002 0.5855 0.3462 0.7061 0.8177 0.6299 0.58 0.33 0.67 0.83 0.6274 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 0.252998 NA NA 0.630337 0.766553 NA 0.688 NA 2.156763 1444 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 1444 3 164777677 164777677 T G intronic SI NA NA NA intronic ENSG00000090402 NA NA NA NA NA 3q26.1 NA NA NA NA rs9290259 0.64 0.64 0.604 0.617212 0.6312 0.8313 0.621 0.4667 0.5828 0.64 0.83 0.59 0.44 0.6138 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 0.599816 NA NA 0.598837 0.486155 NA 0.616 NA 2.156163 1444 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 1445 12 57870648 57870648 A G intronic ARHGAP9 NA NA NA intronic ENSG00000123329 NA NA NA NA NA 12q13.3 NA NA Name=5 NA rs512490 0.85 0.85 0.861 0.846645 0.9642 0.8611 0.8055 0.6823 0.9622 0.96 0.88 0.82 0.67 0.9161 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 2.922451 2.922451 NA 0.966512 0.727644 NA 0.87 NA 2.153188 1445 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 1445 12 114362483 114362483 C T intronic RBM19 NA NA NA intronic ENSG00000122965 NA NA NA NA NA 12q24.21 NA NA NA NA rs3782456 0.7 0.7 0.688 0.707867 0.6044 0.9891 0.7363 0.4917 0.7965 0.6 0.99 0.71 0.53 0.6508 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 -1.175726 NA NA 0.592558 0.518384 NA 0.609 NA 2.152242 1445 19 7623700 7623700 G A intronic PNPLA6 NA NA NA intronic ENSG00000032444 NA NA NA NA NA 19p13.2 NA NA NA NA rs535208 0.53 0.53 0.504 0.538339 0.6113 0.3462 0.634 0.531 0.6033 0.6 0.34 0.65 0.56 0.6295 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.021636 NA NA 0.607694 0.546932 NA 0.609 NA 2.151506 1445 8 142505056 142505056 T C intronic MROH5 NA NA NA intronic ENSG00000226807 NA NA NA NA NA 8q24.3 NA NA NA NA rs2246587 0.57 0.57 0.419 0.610224 0.6968 0.4712 0.768 0.4652 0.7485 0.62 0.45 0.76 0.51 0.6666 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 -0.896882 NA NA 0.485217 0.394903 ID=COSN168447;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(large_intestine) 0.435 NA 2.151383 1445 16 19079095 19079095 T G intronic COQ7 NA NA NA intronic ENSG00000167186 NA NA NA NA NA 16p12.3 NA Name=Pol2(b),PAX5-N19,TR4,AP-2gamma,TBP,CCNT2,SRF,THAP1_(SC-98174),GABP,Pol2-4H8,TAF1,HMGN3,ATF3,GATA-1,HNF4A,ELF1_(SC-631),ETS1,USF1_(SC-8983),HA-E2F1,USF2,Pol2,USF-1,TAF7_(SQ-8) NA NA rs4531717 0.9 0.9 0.885 0.8752 0.9563 0.9653 0.938 0.6672 0.9356 0.96 0.98 0.92 0.69 0.9352 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 0.971931 NA NA 0.957385 0.729331 NA 0.819 NA 2.151115 1445 19 17450446 17450446 G A intronic GTPBP3 NA NA NA intronic ENSG00000130299 NA NA NA NA NA 19p13.11 NA NA NA NA rs4808623 0.5 0.5 0.5 0.548922 0.6163 0.2897 0.4352 0.7216 0.5941 0.61 0.23 0.47 0.68 0.6185 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 2.039672 2.039672 NA 0.614109 0.726909 NA 0.348 NA 2.151091 1445 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 1445 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 1445 12 6500105 6500105 T G UTR3 LTBR NM_001270987:c.*2T>G,NM_002342:c.*2T>G NA NA UTR3 ENSG00000111321 ENST00000539925:c.*2T>G,ENST00000228918:c.*2T>G,ENST00000541102:c.*2T>G NA NA NA NA 12p13.31 NA NA NA NA rs12354 0.81 0.81 0.804 0.843051 0.7117 0.8681 0.7839 0.9856 0.8016 0.7 0.84 0.76 0.99 0.7636 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 0.214855 NA NA 0.70814 0.943486 NA 0.754 NA 2.1498934 1445 5 96364063 96364063 C T intronic LNPEP NA NA NA intronic ENSG00000113441 NA NA NA NA NA 5q15 NA NA NA NA rs27712 0.7 0.7 0.719 0.709065 0.5994 0.6587 0.7061 0.848 0.6881 0.59 0.73 0.7 0.85 0.656 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 0.298205 NA NA 0.594767 0.784839 NA 0.783 NA 2.149833 1445 17 42929970 42929970 T C intronic EFTUD2 NA NA NA intronic ENSG00000108883 NA NA NA NA NA 17q21.31 NA NA NA NA rs2289673 0.65 0.65 0.662 0.665535 0.5915 0.5496 0.5793 0.8464 0.6779 0.6 0.56 0.62 0.86 0.6389 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 -0.274941 NA NA 0.619884 0.812301 NA 0.572 NA 2.149716 1445 1 55069986 55069986 T C intronic ACOT11 NA NA NA intronic ENSG00000162390 NA NA NA NA NA 1p32.3 NA NA NA NA rs746503 0.53 0.53 0.495 0.510783 0.6402 0.4315 0.5562 0.4917 0.453 0.64 0.41 0.59 0.43 0.5772 0.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.846776 NA NA 0.632907 0.521108 NA 0.58 NA 2.149693 1445 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 1445 1 19420392 19420392 G A intronic UBR4 NA NA NA intronic ENSG00000127481 NA NA NA NA NA 1p36.13 NA NA NA NA rs1106839 0.72 0.72 0.712 0.714058 0.6054 0.8105 0.7334 0.8215 0.5675 0.6 0.82 0.71 0.82 0.6442 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 0.780199 NA NA 0.601279 0.79369 NA 0.71 NA 2.149121 1445 5 150921805 150921805 G A intronic FAT2 NA NA NA intronic ENSG00000086570 NA NA NA NA NA 5q33.1 NA NA NA NA rs6579879 0.64 0.64 0.631 0.607827 0.6093 0.6815 0.6888 0.5915 0.4949 0.63 0.67 0.65 0.63 0.6253 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 0.895328 NA NA 0.616279 0.593509 NA 0.616 NA 2.149121 1445 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 1445 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 1445 8 139635920 139635920 T A intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs7839790 0.78 0.78 0.766 0.751997 0.9384 0.8016 0.781 0.4803 0.8558 0.93 0.78 0.8 0.52 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 -0.03692 NA NA 0.915462 0.575145 NA 0.681 NA 2.146138 1445 8 19680979 19680979 C T intronic INTS10 NA NA NA intronic ENSG00000104613 NA NA NA NA NA 8p21.3 NA NA NA NA rs4464983 0.63 0.63 0.639 0.641174 0.6282 0.6448 0.5432 0.7095 0.6278 0.63 0.63 0.56 0.69 0.6111 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30139 NA NA 0.614827 0.70785 NA 0.71 NA 2.145873 1446 2 196663997 196663997 T C intronic DNAH7 NA NA NA intronic ENSG00000118997 NA NA NA NA NA 2q32.3 NA NA NA NA rs7567285 0.49 0.49 0.489 0.459465 0.6481 0.3244 0.4597 0.3684 0.5276 0.65 0.35 0.47 0.39 0.5673 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.322351 1.322351 NA 0.639609 0.437703 NA 0.514 NA 2.144991 1446 4 65165661 65165661 G A intronic TECRL NA NA NA intronic ENSG00000205678 NA NA NA NA NA 4q13.1 Score=748;Name=V$MEF2_04 NA NA NA rs11935568 0.93 0.93 0.926 0.925319 0.9573 0.997 0.938 0.8124 0.9622 0.96 1 0.93 0.8 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 0.809017 NA NA 0.947761 0.854223 NA 0.565 NA 2.144339 1446 20 8769180 8769180 C T intronic PLCB1 NA NA NA intronic ENSG00000182621 NA NA NA NA NA 20p12.3 NA NA NA NA rs2327089 0.91 0.91 0.884 0.896965 0.9583 0.999 0.9424 0.7148 0.9427 0.95 1 0.94 0.72 0.9408 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435245 NA NA 0.957093 0.763277 NA 0.87 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117932.1;CLNDSDB=.;CLNDSDBID=. 2.143807 1446 13 53254296 53254296 A G intronic SUGT1 NA NA NA intronic ENSG00000165416 NA NA NA Score=716;Name=lod=1082 NA 13q14.3 NA NA NA NA rs7986540 0.97 0.97 0.972 0.96266 0.9583 0.9921 0.9769 0.9644 0.9243 0.96 0.99 0.97 0.96 0.9517 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 1.724714 1.724714 NA 0.946395 0.962551 NA 0.906 NA 2.143605 1446 17 76396963 76396963 A G intronic PGS1 NA NA NA intronic ENSG00000087157 NA NA NA NA NA 17q25.3 NA NA NA NA rs3817294 0.59 0.59 0.57 0.584465 0.6252 0.5159 0.647 0.5915 0.5593 0.64 0.5 0.63 0.59 0.6258 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 -0.665491 NA NA 0.605647 0.602804 NA 0.667 NA 2.143353 1446 16 57697532 57697532 T G UTR3 GPR56 NM_005682:c.*38T>G,NM_001145770:c.*38T>G,NM_001145773:c.*38T>G,NM_001145772:c.*38T>G,NM_001145771:c.*38T>G,NM_201524:c.*38T>G,NM_201525:c.*38T>G,NM_001145774:c.*38T>G NA NA UTR3 ENSG00000205336 ENST00000564907:c.*1783T>G,ENST00000568908:c.*38T>G,ENST00000568909:c.*38T>G,ENST00000567835:c.*38T>G,ENST00000562631:c.*38T>G,ENST00000456916:c.*38T>G,ENST00000538815:c.*38T>G,ENST00000388812:c.*38T>G,ENST00000388813:c.*38T>G,ENST00000562558:c.*38T>G,ENST00000544297:c.*38T>G,ENST00000565539:c.*1765T>G,ENST00000540164:c.*38T>G,ENST00000379694:c.*38T>G,ENST00000379696:c.*38T>G NA NA NA NA 16q21 NA NA NA NA rs10852554 0.83 0.83 0.834 0.847843 0.7227 0.9524 0.7939 0.907 0.8272 0.72 0.94 0.76 0.89 0.7564 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 -0.534165 NA NA 0.711163 0.874431 NA 0.797 NA 2.1430704 1446 11 68846098 68846098 A G intronic TPCN2 NA NA NA intronic ENSG00000162341 NA NA NA NA NA 11q13.3 NA Name=ERalpha_a,GR NA NA rs4930649 0.76 0.76 0.8 0.752995 0.9871 0.504 0.6124 0.7171 0.9172 0.99 0.52 0.7 0.72 0.88 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 -0.225917 NA NA 0.990918 0.755455 NA 0.79 NA 2.141982 1446 18 61390649 61390649 C T UTR3 SERPINB11 NM_080475:c.*16C>T NA NA UTR3 ENSG00000206072 ENST00000382749:c.*16C>T,ENST00000536691:c.*16C>T,ENST00000538847:c.*16C>T,ENST00000544088:c.*16C>T NA NA NA NA 18q21.33 NA NA NA NA rs953696 0.74 0.74 0.731 0.704273 0.7416 0.8522 0.719 0.5605 0.6973 0.76 0.84 0.74 0.61 0.7229 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 0.747338 NA NA 0.727025 0.610709 NA 0.783 NA 2.1418084 1446 3 6903601 6903601 A G intronic GRM7 NA NA NA intronic ENSG00000196277 NA NA NA NA NA 3p26.1 NA Name=SUZ12 NA NA rs342034 0.97 0.97 0.975 0.984824 0.9404 0.999 0.9841 0.9992 0.9969 0.94 1 0.98 1 0.9683 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.488767 1.488767 NA 0.949767 0.993418 NA 0.949 NA 2.141533 1446 2 79422965 79422965 C G intergenic REG3A,CTNNA2 dist=36085;dist=317095 NA NA intronic ENSG00000066032 NA NA NA NA NA 2p12 NA NA NA NA rs1434199 0.62 0.62 0.627 0.629593 0.4831 0.4812 0.6801 0.9266 0.4959 0.47 0.53 0.64 0.91 0.5476 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 -0.419838 NA NA 0.494977 0.86016 NA 0.667 NA 2.1409897 1446 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 1446 4 7684641 7684641 C A intronic SORCS2 NA NA NA intronic ENSG00000184985 NA NA NA NA NA 4p16.1 NA NA NA NA rs4689820 0.64 0.64 0.605 0.619409 0.6213 0.6954 0.6354 0.6263 0.5184 0.62 0.69 0.62 0.62 0.6233 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 -0.521669 NA NA 0.61487 0.641613 NA 0.652 NA 2.14053 1446 17 7150552 7150552 A G intronic CTDNEP1 NA NA NA intronic ENSG00000175826,ENSG00000262302 NA NA NA NA NA 17p13.1 NA NA NA NA rs2074217 0.59 0.59 0.618 0.611222 0.6282 0.3909 0.5317 0.8116 0.6063 0.61 0.4 0.56 0.82 0.6154 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 -1.085628 NA NA 0.616279 0.768951 NA 0.681 NA 2.140121 1446 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 1446 3 196210590 196210590 A G intronic RNF168 NA NA NA intronic ENSG00000163961 NA NA NA NA NA 3q29 NA NA NA NA rs7643192 0.53 0.53 0.53 0.554912 0.6243 0.1726 0.5274 0.7761 0.5982 0.63 0.19 0.54 0.77 0.5934 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 0.331378 NA NA 0.642791 0.733545 NA 0.58 NA 2.139509 1446 10 79628875 79628875 A G intronic DLG5 NA NA NA UTR3 ENSG00000204049 ENST00000372387:c.*980A>G NA NA NA NA 10q22.3 NA NA NA NA rs1248655 0.75 0.75 0.728 0.765775 0.6561 0.745 0.7983 0.9236 0.6636 0.63 0.77 0.78 0.9 0.7018 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 1.068233 NA NA 0.669302 0.892646 NA 0.783 NA 2.1394647 1446 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 1446 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 1446 17 66972250 66972250 A T intronic ABCA9 NA NA NA intronic ENSG00000154258 NA NA NA NA NA 17q24.2 NA NA NA NA rs2191212 0.42 0.42 0.407 0.411741 0.6511 0.3413 0.5432 0.0847 0.5869 0.65 0.32 0.52 0.11 0.5698 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.27266 NA NA 0.639767 0.172719 ID=COSN165517;OCCURENCE=1(NS) 0.413 NA 2.139333 1446 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 1446 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 1446 4 151161502 151161502 G T intronic DCLK2 NA NA NA intronic ENSG00000170390 NA NA NA NA NA 4q31.3 NA NA Name=27 NA rs6813035 0.92 0.92 0.911 0.921326 0.9513 0.9187 0.9553 0.8366 0.9836 0.95 0.91 0.96 0.85 0.9498 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 0.246996 NA NA 0.959884 0.849296 NA 0.928 NA 2.139016 1446 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 1446 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 1446 4 95255637 95255637 T G intronic HPGDS NA NA NA intronic ENSG00000163106 NA NA NA NA NA 4q22.3 NA NA NA NA rs2289186 0.57 0.57 0.565 0.557109 0.6551 0.3145 0.4712 0.7988 0.4407 0.65 0.29 0.52 0.8 0.5718 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 1.059512 NA NA 0.635148 0.767817 NA 0.638 NA 2.137952 1446 17 3435935 3435935 C A intronic TRPV3 NA NA NA intronic ENSG00000167723 NA NA NA NA NA 17p13.2 NA NA NA NA rs454738 0.62 0.62 0.575 0.605032 0.6173 0.7083 0.6282 0.4887 0.6268 0.63 0.75 0.6 0.47 0.6274 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 -1.004497 NA NA 0.617702 0.500908 NA 0.688 NA 2.137598 1446 6 18399750 18399750 T C UTR5 RNF144B NM_182757:c.-16T>C NA NA UTR5 ENSG00000137393 ENST00000259939:c.-16T>C NA NA NA NA 6p22.3 NA NA NA NA rs2296198 0.69 0.69 0.67 0.683107 0.7197 0.7817 0.7565 0.4803 0.7658 0.72 0.81 0.72 0.49 0.7345 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 1.31704 1.31704 NA 0.741977 0.495007 NA 0.616 NA 2.1371564 1446 2 160729134 160729134 A C intronic LY75,LY75-CD302 NA NA NA intronic ENSG00000054219,ENSG00000248672 NA NA NA NA NA 2q24.2 NA Name=PU.1 NA NA rs1397705 0.88 0.88 0.877 0.870807 0.9612 1 0.938 0.587 0.9806 0.96 1 0.93 0.6 0.9356 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.438378 1.438378 NA 0.966395 0.639809 NA 0.841 NA 2.136805 1446 14 22322690 22322690 G A intergenic OR4E2,DAD1 dist=188452;dist=711117 NA NA intergenic ENSG00000211787,ENSG00000211788 dist=1507;dist=14330 NA NA NA NA 14q11.2 NA NA NA NA rs12878216 0.43 0.43 0.413 0.44988 0.3777 0.375 0.5187 0.528 0.4468 0.37 0.38 0.5 0.51 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 -0.007263 NA NA 0.393772 0.530251 NA 0.428 NA 2.1367614 1446 3 196210808 196210808 T C intronic RNF168 NA NA NA intronic ENSG00000163961 NA NA NA NA NA 3q29 NA NA NA NA rs7646174 0.54 0.54 0.531 0.561302 0.6243 0.1726 0.5288 0.798 0.6002 0.62 0.19 0.54 0.8 0.5958 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 0.841505 NA NA 0.643173 0.756812 NA 0.587 NA 2.136727 1446 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 1446 11 992691 992691 G T intronic AP2A2 NA NA NA intronic ENSG00000183020 NA NA NA NA NA 11p15.5 NA NA NA NA rs10902263 0.5 0.5 0.474 0.460863 0.662 0.2887 0.7147 0.3548 0.3947 0.65 0.31 0.69 0.34 0.5646 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 0.763643 NA NA 0.63726 0.377982 NA 0.601 NA 2.13614 1446 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 1446 19 15739084 15739084 T C intronic CYP4F8 NA NA NA ncRNA_exonic ENSG00000186526 NA NA NA NA NA 19p13.12 NA NA NA NA rs4239613 0.74 0.74 0.729 0.71246 0.7286 0.7173 0.755 0.7602 0.5961 0.73 0.71 0.75 0.8 0.7344 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 0.116318 NA NA 0.734651 0.727871 NA 0.696 NA 2.1356823 1447 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 1447 11 1284227 1284227 A G downstream MUC5B NA NA NA downstream ENSG00000117983 NA NA NA NA NA 11p15.5 NA NA NA NA rs12417955 0.57 0.57 0.558 0.571486 0.496 0.6587 0.6124 0.5726 0.5286 0.49 0.68 0.57 0.56 0.5432 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.264653 NA NA 0.493216 0.55441 NA 0.543 NA 2.1342506 1447 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 1447 3 121976253 121976253 G A intronic CASR NA NA NA intronic ENSG00000036828 NA NA NA NA NA 3q21.1 NA NA NA NA rs9869985 0.92 0.92 0.919 0.921925 0.9632 0.9802 0.9798 0.7912 0.955 0.96 0.99 0.98 0.75 0.9437 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 0.154893 NA NA 0.959419 0.820472 NA 0.935 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Hypocalciuric_hypercalcemia\x2c_familial\x2c_type_1|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000029451.1|RCV000078686.1;CLNDSDB=MedGen|.;CLNDSDBID=C0342637|. 2.133681 1447 7 141764164 141764164 C T intronic MGAM NA NA NA intronic ENSG00000257335 NA NA NA NA NA 7q34 NA NA NA NA rs10271514 0.6 0.6 0.595 0.589457 0.6024 0.877 0.4121 0.3449 0.7362 0.59 0.85 0.5 0.38 0.6401 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 -0.05716 NA NA 0.624124 0.396907 NA 0.551 NA 2.133376 1447 3 118909962 118909962 T C intronic UPK1B NA NA NA intronic ENSG00000114638 NA NA NA NA NA 3q13.32 Score=1000;Name=V$AML1_01 NA NA NA rs3796356 0.91 0.91 0.897 0.882987 0.9672 0.9286 0.9078 0.7784 0.8732 0.97 0.93 0.93 0.78 0.9325 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 -1.034139 NA NA 0.966977 0.813436 NA 0.899 NA 2.133323 1447 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 1447 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 1447 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 1447 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 1447 5 145838440 145838440 G A intronic TCERG1 NA NA NA intronic ENSG00000113649 NA NA NA NA NA 5q32 NA NA NA NA rs11743333 0.43 0.43 0.419 0.44389 0.6501 0.1558 0.6052 0.2738 0.6442 0.66 0.14 0.56 0.31 0.5738 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 -0.786411 NA NA 0.645964 0.32365 NA 0.42 NA 2.130136 1447 5 32101168 32101168 A T intronic PDZD2 NA NA NA intronic ENSG00000133401 NA NA NA NA NA 5p13.3 NA NA NA NA rs2279232 0.46 0.46 0.431 0.41893 0.6342 0.3264 0.585 0.264 0.3845 0.64 0.31 0.6 0.26 0.5699 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 0.064386 NA NA 0.666163 0.334998 NA 0.587 NA 2.129737 1447 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 1447 4 68396525 68396525 G C intronic CENPC1 NA NA NA intronic ENSG00000145241 NA NA NA NA NA 4q13.2 NA NA NA NA rs355477 0.69 0.69 0.667 0.704273 0.6252 0.8264 0.7565 0.6324 0.7198 0.61 0.82 0.73 0.63 0.6471 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 0.424019 NA NA 0.598755 0.643703 NA 0.783 NA 2.128945 1447 14 22972742 22972742 G A intergenic OR4E2,DAD1 dist=838504;dist=61065 NA NA exonic ENSG00000211852 NA unknown UNKNOWN NA NA 14q11.2 NA NA NA NA rs2170810 0.58 0.58 0.547 0.59405 0.665 0.5655 0.7795 0.3654 0.728 0.67 0.54 0.76 0.35 0.6881 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 -0.528145 NA NA 0.684796 0.428687 NA 0.63 NA 2.1287707 1447 19 15739315 15739315 T C intronic CYP4F8 NA NA NA ncRNA_exonic ENSG00000186526 NA NA NA NA NA 19p13.12 NA NA NA NA rs2056821 0.74 0.74 0.725 0.71246 0.7296 0.7173 0.755 0.7602 0.5951 0.73 0.71 0.75 0.8 0.7345 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 0.345322 NA NA 0.740468 0.735741 NA 0.674 NA 2.1287653 1447 X 140983031 140983031 A G intronic MAGEC3 NA NA NA intronic ENSG00000165509 NA NA NA NA NA Xq27.2 NA NA NA NA rs176023 0.81 0.81 0.82432 NA NA NA NA NA NA 0.98 0.54 0.8 0.85 0.8867 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 -0.502029 NA NA 0.984542 0.878456 NA 0.254 NA 2.128758 1447 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 1447 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 1447 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 1447 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 1447 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 1447 2 7540695 7540695 C G intergenic RNF144A,LOC100506274 dist=356386;dist=20697 NA NA intergenic ENSG00000213774,ENSG00000229727 dist=75502;dist=20697 NA NA NA NA 2p25.1 NA NA NA NA rs2163257 0.57 0.57 0.58 0.548123 0.6262 0.501 0.5591 0.5461 0.5112 0.62 0.5 0.57 0.59 0.5814 0.62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.658146 NA NA NA NA NA 0.58 NA 2.1257334 1448 7 131859496 131859496 G A intronic PLXNA4 NA NA NA intronic ENSG00000221866 NA NA NA NA NA 7q32.3 NA NA NA NA rs7808586 0.73 0.73 0.763 0.789936 0.6083 0.6915 0.7205 0.9788 0.8722 0.61 0.71 0.7 0.97 0.6701 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 -0.797759 NA NA 0.597578 0.92289 NA 0.717 NA 2.124022 1448 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 1448 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 1448 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 1448 14 21215728 21215728 G C UTR5 EDDM3A NM_006683:c.-12G>C NA NA UTR5 ENSG00000181562 ENST00000326842:c.-12G>C NA NA NA NA 14q11.2 NA NA NA NA rs10135976 0.83 0.83 0.83 0.847843 0.7356 0.9921 0.817 0.8427 0.8436 0.73 0.99 0.81 0.83 0.7761 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 1.822214 1.822214 NA 0.698837 0.830912 NA 0.87 NA 2.1227964 1448 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 1448 1 175092840 175092840 T C intronic TNN NA NA NA intronic ENSG00000120332 NA NA NA NA NA 1q25.1 NA NA NA NA rs2072041 0.61 0.61 0.603 0.598442 0.6421 0.4931 0.6671 0.6203 0.5838 0.65 0.49 0.67 0.64 0.604 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 -0.772803 NA NA 0.631279 0.605311 NA 0.71 NA 2.122621 1448 3 122642415 122642415 G C intronic SEMA5B NA NA NA intronic ENSG00000082684 NA NA NA NA NA 3q21.1 NA NA NA NA rs2276779 0.43 0.43 0.377 0.414936 0.6511 0.3006 0.4366 0.1861 0.5838 0.66 0.29 0.49 0.2 0.5597 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 2.164541 2.164541 NA 0.66686 0.263504 NA 0.529 NA 2.12234 1448 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 1448 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 1448 15 31218164 31218164 T C intronic FAN1 NA NA NA intronic ENSG00000198690 NA NA NA NA NA 15q13.3 NA NA NA NA rs2959037 0.74 0.74 0.711 0.748602 0.6173 0.9831 0.745 0.6687 0.7526 0.62 0.98 0.72 0.65 0.6711 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 0.121293 NA NA 0.59 0.685513 NA 0.804 NA 2.1216 1448 11 43776481 43776481 C T intronic HSD17B12 NA NA NA UTR3 ENSG00000149084 ENST00000395700:c.*45C>T NA NA NA NA 11p11.2 NA NA NA NA rs7115919 0.68 0.68 0.7 0.64357 0.6789 0.7381 0.536 0.5908 0.6575 0.69 0.81 0.56 0.59 0.6707 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 0.139963 NA NA 0.69563 0.606735 NA 0.674 NA 2.1214367 1448 4 110619534 110619534 T G intronic CASP6 NA NA NA intronic ENSG00000138794 NA NA NA NA NA 4q25 NA NA NA NA rs2301717 0.66 0.66 0.677 0.694289 0.5994 0.5615 0.5821 0.8873 0.7474 0.62 0.56 0.59 0.88 0.655 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 0.009586 NA NA 0.624419 0.832955 NA 0.739 NA 2.121181 1448 7 129410195 129410195 G A downstream MIR182 NA NA NA downstream ENSG00000207990 NA NA NA NA NA 7q32.2 NA NA NA NA rs4541843 0.32 0.32 0.31 0.286542 0.5368 0.0575 0.3862 0.1959 0.317 0.52 0.06 0.42 0.21 0.4562 0.55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.997542 NA NA 0.552764 0.259885 NA 0.232 NA 2.1209026 1448 6 170595430 170595430 G C intronic DLL1 NA NA NA intronic ENSG00000198719 NA NA NA NA NA 6q27 NA NA Name=7 NA rs2747757 0.9 0.9 0.894 0.886981 0.9761 0.9802 0.9597 0.6702 0.9407 0.97 0.99 0.94 0.67 0.9431 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 0.359707 NA NA 0.960116 0.721289 NA 0.841 NA 2.120684 1448 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 1448 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 1448 X 152825414 152825414 G T intronic ATP2B3 NA NA NA intronic ENSG00000067842 NA NA NA NA NA Xq28 NA NA NA NA rs3020959 0.91 0.91 0.89428 NA NA NA NA NA NA 0.97 0.99 0.96 0.68 0.9317 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 -0.323172 NA NA 0.94887 0.683963 NA 0.551 NA 2.11943 1448 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 1448 5 68706438 68706438 G A intronic RAD17 NA NA NA intronic ENSG00000152942 NA NA NA NA NA 5q13.2 NA NA NA NA rs6871685 0.84 0.84 0.821 0.797324 0.9443 0.879 0.8487 0.5923 0.8027 0.95 0.89 0.88 0.59 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 0.032681 NA NA 0.937382 0.67052 NA 0.804 NA 2.118318 1448 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 1448 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 1448 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 1448 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 1448 4 77274242 77274242 T C intronic CCDC158 NA NA NA intronic ENSG00000163749 NA NA NA NA NA 4q21.1 NA NA NA NA rs12504985 0.61 0.61 0.566 0.61861 0.6133 0.7748 0.7478 0.3759 0.6994 0.61 0.76 0.74 0.36 0.6516 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 0.026503 NA NA 0.617358 0.433828 NA 0.638 NA 2.117742 1448 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 1448 8 27764627 27764627 T C intronic SCARA5 NA NA NA ncRNA_intronic ENSG00000253397 NA NA NA NA NA 8p21.1 NA NA NA NA rs2726987 0.73 0.73 0.727 0.735224 0.7505 0.8413 0.6239 0.6936 0.7454 0.74 0.82 0.64 0.7 0.7296 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 -0.842533 NA NA 0.73593 0.713345 NA 0.645 NA 2.1173033 1448 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 1448 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 1448 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 1448 19 15739992 15739992 T C intronic CYP4F8 NA NA NA ncRNA_intronic ENSG00000186526 NA NA NA NA NA 19p13.12 NA NA NA NA rs2239366 0.74 0.74 0.728 0.71266 0.7286 0.7173 0.755 0.7602 0.5971 0.73 0.71 0.75 0.8 0.7554 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 0.658165 NA NA 0.733481 0.727975 NA 0.696 NA 2.1158523 1448 11 802115 802115 A G intronic PIDD NA NA NA intronic ENSG00000177595 NA NA NA NA NA 11p15.5 NA NA NA NA rs7479101 0.67 0.67 0.637 0.628994 0.6223 0.6101 0.7507 0.7065 0.4642 0.63 0.66 0.72 0.71 0.6054 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.066503 NA NA 0.657015 0.70319 NA 0.558 NA 2.115285 1448 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 1448 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 1449 11 61896215 61896215 G A intronic INCENP NA NA NA intronic ENSG00000149503 NA NA NA NA NA 11q12.3 NA NA NA NA rs1792946 0.4 0.4 0.397 0.345647 0.6859 0.12 0.379 0.3192 0.2403 0.68 0.09 0.42 0.33 0.5157 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.427203 NA NA 0.683647 0.358992 NA 0.391 NA 2.114753 1449 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 1449 1 230795177 230795177 T C intronic COG2 NA NA NA intronic ENSG00000135775 NA NA NA NA NA 1q42.2 NA NA NA NA rs1359866 0.74 0.74 0.745 0.755791 0.5994 0.8998 0.7363 0.7731 0.7587 0.6 0.91 0.7 0.79 0.6775 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 -0.046925 NA NA 0.609819 0.742252 NA 0.652 NA 2.113281 1449 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 1449 10 72643671 72643671 C T UTR3 PCBD1 NM_000281:c.*36G>A NA NA UTR3 ENSG00000166228 ENST00000299299:c.*36G>A NA NA NA NA 10q22.1 NA NA NA NA rs9712 0.75 0.75 0.73 0.765375 0.7157 0.7817 0.7608 0.73 0.8507 0.72 0.78 0.74 0.75 0.7768 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 0.609826 NA NA 0.727727 0.72946 NA 0.783 NA 2.1131064 1449 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 1449 20 25004071 25004071 G T intronic ACSS1 NA NA NA intronic ENSG00000154930 NA NA NA NA NA 20p11.21 NA Name=GATA-1 NA NA rs4813543 0.98 0.98 0.984 0.982827 0.9612 1 0.9813 0.9992 0.9663 0.96 1 0.97 1 0.9689 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.180542 NA NA 0.957442 0.991829 NA 0.986 NA 2.112458 1449 15 69007656 69007656 T G intronic CORO2B NA NA NA intronic ENSG00000103647 NA NA NA Score=623;Name=lod=453 NA 15q23 NA NA NA NA rs1542746 0.94 0.94 0.925 0.926118 0.9682 1 0.9553 0.7791 0.9847 0.96 1 0.94 0.81 0.9552 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.108156 NA NA 0.964751 0.819773 NA 0.906 NA 2.111849 1449 4 167012506 167012506 A G intronic TLL1 NA NA NA intronic ENSG00000038295 NA NA NA NA NA 4q32.3 NA NA Name=11 NA rs2254420 0.94 0.94 0.917 0.90655 0.9722 0.996 0.9467 0.7466 0.9346 0.97 1 0.95 0.79 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 0.637612 NA NA 0.965108 0.775079 NA 0.891 NA 2.111592 1449 21 43496381 43496381 G T intronic UMODL1 NA NA NA intronic ENSG00000177398 NA NA NA NA NA 21q22.3 NA NA NA NA rs220286 0.46 0.46 0.437 0.420727 0.66 0.1677 0.5 0.3517 0.4724 0.67 0.2 0.53 0.37 0.5603 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 0.203569 NA NA 0.668672 0.439308 NA 0.341 NA 2.111028 1449 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 1449 6 17543036 17543036 A G intronic CAP2 NA NA NA intronic ENSG00000112186 NA NA NA NA NA 6p22.3 NA NA NA NA rs2296249 0.64 0.64 0.627 0.627596 0.6272 0.7331 0.5605 0.6233 0.5726 0.61 0.72 0.61 0.59 0.6208 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076863 NA NA 0.641395 0.653881 NA 0.551 NA 2.110605 1449 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 1449 6 42176120 42176120 G T intronic MRPS10 NA NA NA intronic ENSG00000048544 NA NA NA NA NA 6p21.1 NA NA NA NA rs2295278 0.6 0.6 0.572 0.579473 0.6372 0.7937 0.6354 0.2035 0.7679 0.63 0.83 0.67 0.22 0.6362 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 0.422713 NA NA 0.616628 0.312982 NA 0.594 NA 2.109972 1449 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 1449 11 1217084 1217084 T C intergenic MUC2,MUC5B dist=112667;dist=27211 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=54723;dist=27212 NA NA NA NA 11p15.5 NA NA NA NA rs28652890 0.44 0.44 0.386 0.491414 0.4056 0.3492 0.4452 0.7035 0.4724 0.41 0.28 0.42 0.7 0.4159 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 -1.179854 NA NA 0.404378 0.658986 NA 0.384 NA 2.1074554 1449 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 1449 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 1450 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 1450 21 19506651 19506651 G A intronic CHODL NA NA NA intronic ENSG00000154645 NA NA NA NA NA 21q21.1 NA NA NA NA rs2824646 0.46 0.46 0.485 0.455871 0.6471 0.248 0.5159 0.4092 0.4939 0.66 0.23 0.52 0.38 0.5738 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 0.022801 NA NA 0.674787 0.430936 NA 0.507 NA 2.104313 1450 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 1450 X 128957640 128957640 T C intronic ZDHHC9 NA NA NA intronic ENSG00000188706 NA NA NA NA NA Xq26.1 NA NA NA NA rs2275605 0.81 0.81 NA NA NA NA NA NA NA 0.97 0.54 0.96 0.77 0.907 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 0.199352 NA NA 0.989447 0.833898 NA 0.58 NA 2.103553 1450 1 197890422 197890422 C G intronic LHX9 NA NA NA intronic ENSG00000143355 NA NA NA Score=632;Name=lod=495 NA 1q31.3 NA NA NA NA rs12122995 0.93 0.93 0.915 0.929912 0.9632 1 0.9741 0.7829 0.9908 0.97 1 0.97 0.79 0.9625 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.426567 NA NA 0.971279 0.814798 NA 0.928 NA 2.103021 1450 3 58145263 58145263 G A intronic FLNB NA NA NA intronic ENSG00000136068 NA NA NA NA NA 3p14.3 NA NA NA NA rs12634123 0.73 0.73 0.721 0.748602 0.5994 0.998 0.7349 0.652 0.7853 0.61 1 0.72 0.63 0.6698 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.40013 4.40013 NA 0.627907 0.625965 NA 0.804 NA 2.102893 1450 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 1450 11 74054346 74054346 G T intronic PGM2L1 NA NA NA intronic ENSG00000165434 NA NA NA NA NA 11q13.4 NA NA NA NA rs641271 0.62 0.62 0.586 0.619409 0.6292 0.7887 0.6441 0.4402 0.6595 0.63 0.78 0.61 0.43 0.6396 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 -1.370668 NA NA 0.629183 0.463225 NA 0.471 NA 2.102017 1450 12 95966944 95966944 A G intergenic USP44,PGAM1P5 dist=21681;dist=76087 NA NA intergenic ENSG00000136014,ENSG00000212448 dist=21678;dist=44521 NA NA NA NA 12q22 NA NA NA NA rs4762567 0.5 0.5 0.503 0.534545 0.3817 0.5714 0.5159 0.6687 0.4857 0.39 0.52 0.5 0.65 0.4483 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.319996 NA NA 0.401557 0.598174 NA 0.471 NA 2.1017764 1450 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 1450 6 165827194 165827194 A G intronic PDE10A NA NA NA intronic ENSG00000112541 NA NA NA NA NA 6q27 NA NA NA NA rs220749 0.64 0.64 0.614 0.629193 0.6332 0.3442 0.6657 0.8888 0.5419 0.64 0.4 0.65 0.89 0.6376 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 -0.339157 NA NA 0.628372 0.856559 ID=COSN167934;OCCURENCE=1(large_intestine) 0.783 NA 2.100828 1450 2 27351279 27351279 G A intronic ABHD1 NA NA NA intronic ENSG00000143994 NA NA NA NA NA 2p23.3 NA NA NA NA rs1866561 0.63 0.63 0.606 0.635783 0.6412 0.7093 0.5029 0.6172 0.6738 0.66 0.67 0.54 0.58 0.6237 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 0.517136 NA NA 0.634651 0.626192 NA 0.616 NA 2.100449 1450 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 1450 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 1450 1 1246004 1246004 A G intronic PUSL1 NA NA NA intronic ENSG00000169972 NA NA NA NA NA 1p36.33 NA NA Name=8 NA rs2296474 0.96 0.96 0.951 0.951877 0.9672 0.9127 0.9813 0.9803 0.9172 0.97 0.91 0.99 0.99 0.9629 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 0.638499 NA NA 0.970116 0.990014 NA 0.986 NA 2.099784 1450 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 1450 16 56673249 56673249 T C intronic MT1A NA NA NA intronic ENSG00000205362 NA NA NA NA NA 16q12.2 NA NA NA NA rs11647171 0.55 0.55 0.512 0.515375 0.6451 0.4752 0.6268 0.3888 0.5153 0.65 0.52 0.63 0.38 0.6081 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.098715 NA NA 0.647592 0.421065 NA 0.587 NA 2.099208 1450 12 57106810 57106810 G A intronic NACA NA NA NA intronic ENSG00000196531 NA NA NA NA NA 12q13.3 NA NA NA NA rs898609 0.6 0.6 0.562 0.607628 0.6252 0.7401 0.6657 0.3343 0.7812 0.61 0.75 0.69 0.35 0.654 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 -0.340684 NA NA 0.621628 0.413073 NA 0.551 NA 2.099172 1450 16 359953 359953 A G intronic AXIN1 NA NA NA intronic ENSG00000103126 NA NA NA NA NA 16p13.3 NA NA NA NA rs2301522 0.6 0.6 0.603 0.649161 0.6074 0.3085 0.5735 0.9236 0.726 0.6 0.34 0.59 0.92 0.6387 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 0.253712 NA NA 0.654767 0.869723 NA 0.58 NA 2.099133 1450 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 1450 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 1450 14 22322369 22322369 T C intergenic OR4E2,DAD1 dist=188131;dist=711438 NA NA intergenic ENSG00000211787,ENSG00000211788 dist=1186;dist=14651 NA NA NA NA 14q11.2 NA NA NA NA rs11626323 0.43 0.43 0.407 0.451078 0.3777 0.376 0.5187 0.528 0.4519 0.37 0.38 0.5 0.52 0.4686 0.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.251407 NA NA 0.388247 0.521143 NA 0.428 NA 2.0987864 1450 11 76687399 76687399 A C intronic ACER3 NA NA NA ncRNA_intronic ENSG00000254988 NA NA NA NA NA 11q13.5 NA NA NA NA rs1517909 0.67 0.67 0.707 0.664537 0.7406 0.6349 0.5461 0.6626 0.7035 0.75 0.67 0.54 0.66 0.7304 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 1.52902 1.52902 NA 0.76363 0.660982 NA 0.652 NA 2.0987033 1450 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 1450 2 39025632 39025632 A G intronic DHX57 NA NA NA intronic ENSG00000163214 NA NA NA NA NA 2p22.1 NA NA NA NA rs1530852 0.61 0.61 0.575 0.589058 0.6461 0.7867 0.5821 0.3132 0.7045 0.66 0.8 0.59 0.3 0.6234 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 -0.020657 NA NA 0.632907 0.357694 NA 0.514 NA 2.097593 1450 11 89939448 89939448 G A intronic CHORDC1 NA NA NA UTR5 ENSG00000110172 ENST00000529726:c.-716C>T NA NA NA NA 11q14.3 NA NA NA NA rs1943381 0.63 0.63 0.591 0.598642 0.6958 0.6756 0.6513 0.3283 0.7474 0.69 0.72 0.68 0.38 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 -0.607772 NA NA 0.686496 0.368577 NA 0.645 NA 2.0971707 1450 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 1450 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 1450 3 196443803 196443803 T C intronic PIGX NA NA NA intronic ENSG00000163964 NA NA NA NA NA 3q29 NA NA NA NA rs1906044 0.67 0.67 0.667 0.679912 0.6262 0.5327 0.6196 0.8873 0.6493 0.63 0.58 0.64 0.87 0.6499 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 -0.127949 NA NA 0.627326 0.840672 NA 0.703 NA 2.096574 1450 9 90589016 90589016 A G intronic CDK20 NA NA NA intronic ENSG00000156345 NA NA NA NA NA 9q22.1 NA NA NA NA rs666459 0.56 0.56 0.532 0.613618 0.6571 0.3065 0.5014 0.7912 0.7249 0.66 0.3 0.54 0.74 0.6181 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 -0.070163 NA NA 0.628867 0.756358 NA 0.645 NA 2.095933 1450 1 55457815 55457815 C T UTR3 TMEM61 NM_182532:c.*39C>T NA NA ncRNA_exonic ENSG00000233271 NA NA NA NA NA 1p32.3 NA NA NA NA rs2495513 0.78 0.78 0.778 0.78754 0.8002 0.6379 0.889 0.8162 0.818 0.79 0.67 0.91 0.8 0.7945 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 0.210659 NA NA 0.809563 0.821526 NA 0.819 NA 2.095737 1450 10 17171265 17171265 G C intronic CUBN NA NA NA intronic ENSG00000107611 NA NA NA Score=317;Name=lod=26 NA 10p13 NA NA NA NA rs2281648 0.82 0.82 0.815 0.805911 0.994 0.756 0.7954 0.618 0.9254 0.99 0.73 0.82 0.64 0.9147 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.70876 1.70876 NA 0.995698 0.685909 NA 0.826 NA 2.095602 1450 3 14552994 14552994 A G intronic GRIP2 NA NA NA ncRNA_intronic ENSG00000144596 NA NA NA NA NA 3p25.1 NA NA NA NA rs4685168 0.79 0.79 0.779 0.811502 0.7316 0.7887 0.7695 0.8366 0.9131 0.73 0.81 0.76 0.85 0.7674 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 1.328024 1.328024 NA 0.739255 0.83415 NA 0.884 NA 2.0950783 1451 16 81145807 81145807 C G exonic PKD1L2 NA unknown UNKNOWN exonic ENSG00000166473 NA unknown UNKNOWN NA NA 16q23.2 NA NA NA NA rs8054182 0.87 0.87 0.857 0.836661 0.992 0.7966 0.8991 0.7277 0.8211 0.99 0.8 0.91 0.74 0.9207 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 -2.069483 NA 1 0.994494 0.762538 NA 0.891 NA 2.092806 1451 22 51045433 51045433 C T intronic MAPK8IP2 NA NA NA intronic ENSG00000008735 NA NA NA NA NA 22q13.33 NA NA NA NA rs131736 0.62 0.62 0.632 0.622604 0.6441 0.8393 0.6138 0.3926 0.6943 0.63 0.83 0.61 0.38 0.6272 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 -0.674541 NA NA 0.636937 0.463873 NA 0.71 NA 2.091763 1451 1 26110143 26110143 G A intronic MAN1C1 NA NA NA intronic ENSG00000117643 NA NA NA NA NA 1p36.11 NA NA NA NA rs3767877 0.64 0.64 0.643 0.642173 0.6431 0.7272 0.5865 0.5477 0.7209 0.64 0.72 0.6 0.56 0.6336 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.228757 NA NA 0.631628 0.554471 NA 0.725 NA 2.091672 1451 21 43541342 43541342 C T intronic UMODL1 NA NA NA intronic ENSG00000177398 NA NA NA NA NA 21q22.3 NA NA NA NA rs220150 0.61 0.61 0.609 0.61901 0.6362 0.5962 0.7133 0.5416 0.6626 0.62 0.62 0.69 0.53 0.636 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 -0.86123 NA NA 0.636209 0.554604 NA 0.652 NA 2.091591 1451 6 18134021 18134021 C A intronic TPMT NA NA NA intronic ENSG00000137364 NA NA NA NA NA 6p22.3 NA NA NA NA rs2842949 0.47 0.47 0.215 0.585064 0.7276 0.75 0.6527 0.2995 0.6063 0.55 0.54 0.49 0.25 0.6115 0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.310275 NA NA 0.569535 0.221062 NA 0.007 NA 2.091365 1451 3 195245805 195245805 G A intronic PPP1R2 NA NA NA intronic ENSG00000184203 NA NA NA NA NA 3q29 NA NA NA NA rs17847362 0.72 0.72 0.71 0.728435 0.6322 0.9504 0.7637 0.5953 0.7536 0.62 0.95 0.73 0.61 0.6729 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 1.972246 1.972246 NA 0.604186 0.566273 NA 0.725 NA 2.090714 1451 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 1451 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 1451 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 1451 21 19506694 19506694 T G intronic CHODL NA NA NA intronic ENSG00000154645 NA NA NA NA NA 21q21.1 NA NA NA NA rs9977750 0.46 0.46 0.461 0.464657 0.6521 0.2579 0.5202 0.4107 0.5184 0.66 0.23 0.53 0.38 0.5795 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.292646 NA NA 0.679558 0.436644 NA 0.529 NA 2.088842 1451 19 6696691 6696691 G T intronic C3 NA NA NA intronic ENSG00000125730 NA NA NA NA NA 19p13.3 NA NA NA NA rs2355315 0.73 0.73 0.72 0.732428 0.6272 0.8512 0.7695 0.7103 0.7219 0.62 0.85 0.75 0.73 0.6665 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 -0.734909 NA NA 0.61814 0.704267 NA 0.63 NA 2.08816 1451 19 6696597 6696597 G A intronic C3 NA NA NA intronic ENSG00000125730 NA NA NA NA NA 19p13.3 NA NA NA NA rs2287845 0.73 0.73 0.753 0.732428 0.6272 0.8512 0.7695 0.7103 0.7219 0.62 0.85 0.75 0.73 0.6666 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 -0.169814 NA NA 0.61814 0.704267 NA 0.63 NA 2.08806 1451 1 163122528 163122528 G C intronic RGS5 NA NA NA intronic ENSG00000143248 NA NA NA NA NA 1q23.3 NA NA NA NA rs1354939 0.55 0.55 0.5 0.557508 0.6431 0.623 0.7205 0.2224 0.7393 0.65 0.63 0.69 0.21 0.6454 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 0.132909 NA NA 0.624564 0.296229 NA 0.652 NA 2.086936 1451 3 142413407 142413407 C T intronic PLS1 NA NA NA intronic ENSG00000120756 NA NA NA NA NA 3q23 NA NA NA NA rs6789958 0.67 0.67 0.695 0.659545 0.6551 0.5476 0.487 0.9667 0.4867 0.66 0.53 0.53 0.96 0.6111 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 -0.216254 NA NA 0.647209 0.903541 ID=COSN167034;OCCURENCE=1(large_intestine) 0.638 NA 2.086591 1451 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 1451 1 85648905 85648905 T C intronic SYDE2 NA NA NA intronic ENSG00000097096 NA NA NA NA NA 1p22.3 NA NA NA NA rs11161539 0.52 0.52 0.495 0.514177 0.6421 0.5397 0.5202 0.2443 0.7168 0.65 0.59 0.52 0.24 0.6193 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.854944 NA NA 0.652201 0.322278 NA 0.536 NA 2.086399 1451 5 96126197 96126197 A G intronic ERAP1 NA NA NA intronic ENSG00000164307 NA NA NA NA NA 5q15 NA NA NA NA rs27710 0.59 0.59 0.596 0.596046 0.6501 0.5456 0.5951 0.5976 0.591 0.66 0.51 0.58 0.58 0.6202 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 1.118355 NA NA 0.643721 0.596459 NA 0.522 NA 2.085979 1451 22 41550954 41550954 C T intronic EP300 NA NA NA intronic ENSG00000100393 NA NA NA NA NA 22q13.2 NA NA NA NA rs4822011 0.67 0.67 0.651 0.673123 0.6352 0.8175 0.7695 0.5091 0.7168 0.62 0.79 0.77 0.51 0.6585 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 0.278431 NA NA 0.620493 0.509305 NA 0.652 NA 2.085807 1451 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 1451 18 41559321 41559321 C G intergenic SYT4,SETBP1 dist=701706;dist=700817 NA NA intergenic ENSG00000202250,ENSG00000267716 dist=147091;dist=60115 NA NA NA NA 18q12.3 NA NA NA NA rs7229587 0.71 0.71 0.701 0.710863 0.6223 0.8611 0.7161 0.6762 0.6902 0.63 0.87 0.7 0.65 0.6253 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 1.110024 NA NA NA NA NA 0.572 NA 2.0857334 1452 8 144126244 144126244 T C intronic C8orf31 NA NA NA intronic ENSG00000177335 NA NA NA NA NA 8q24.3 NA NA NA NA rs4612316 0.69 0.69 0.673 0.6877 0.6173 0.7302 0.6729 0.6989 0.7117 0.62 0.79 0.65 0.71 0.6721 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 -0.834636 NA NA 0.625843 0.691557 NA 0.616 NA 2.084757 1452 10 98319503 98319503 A T intronic TM9SF3 NA NA NA intronic ENSG00000077147 NA NA NA NA NA 10q24.1 NA NA NA NA rs3818390 0.55 0.55 0.528 0.638578 0.6481 0.8304 0.5432 0.4796 0.7137 0.54 0.74 0.5 0.37 0.6715 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.898057 NA NA 0.595643 0.431922 NA 0.543 NA 2.084757 1452 5 96122260 96122260 T G intronic ERAP1 NA NA NA intronic ENSG00000164307 NA NA NA NA NA 5q15 NA NA NA NA rs30379 0.59 0.59 0.605 0.595847 0.6501 0.5456 0.5951 0.5968 0.591 0.66 0.51 0.58 0.57 0.623 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 0.015265 NA NA 0.643488 0.594644 NA 0.522 NA 2.083412 1452 11 14501296 14501296 C T intronic COPB1 NA NA NA intronic ENSG00000129083 NA NA NA NA NA 11p15.2 NA NA NA NA rs2575857 0.69 0.69 0.662 0.693091 0.6481 0.6964 0.7277 0.7436 0.6431 0.63 0.7 0.73 0.74 0.649 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.073084 NA NA 0.619514 0.692982 NA 0.688 NA 2.083386 1452 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 1452 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 1452 4 170017860 170017860 G A intronic SH3RF1 NA NA NA intronic ENSG00000154447 NA NA NA NA NA 4q32.3 NA NA NA NA rs1471172 0.54 0.54 0.479 0.505192 0.6402 0.6478 0.6383 0.2095 0.5245 0.64 0.62 0.61 0.23 0.622 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 0.240218 NA NA 0.655349 0.270313 NA 0.457 NA 2.082451 1452 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 1452 16 49412531 49412531 A G intronic C16orf78 NA NA NA intronic ENSG00000166152 NA NA NA NA NA 16q12.1 NA NA NA NA rs27813 0.7 0.7 0.706 0.723442 0.6302 0.7649 0.6311 0.8086 0.727 0.62 0.73 0.63 0.82 0.6578 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 -0.89502 NA NA 0.63 0.776035 NA 0.754 NA 2.082 1452 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 1452 22 50876357 50876357 C G intronic PPP6R2 NA NA NA intronic ENSG00000100239 NA NA NA NA NA 22q13.33 NA NA NA NA rs5770890 0.65 0.65 0.618 0.619808 0.6471 0.8522 0.7233 0.3752 0.6094 0.66 0.84 0.7 0.39 0.6409 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 -0.693195 NA NA 0.630863 0.414864 NA 0.659 NA 2.081137 1452 3 19974700 19974700 T C intronic EFHB NA NA NA intronic ENSG00000163576 NA NA NA NA NA 3p24.3 NA NA NA NA rs2929350 0.54 0.54 0.54 0.55651 0.6272 0.3492 0.5202 0.6369 0.6145 0.65 0.35 0.49 0.64 0.6456 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285011 NA NA 0.646163 0.64555 NA 0.652 NA 2.081037 1452 12 50473660 50473660 A G intronic ASIC1 NA NA NA intronic ENSG00000110881 NA NA NA NA NA 12q13.12 NA Name=NRSF NA NA rs404751 0.92 0.92 0.943 0.926118 0.9811 0.8512 0.8833 0.9251 0.9785 0.98 0.84 0.9 0.94 0.9556 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 2.907716 2.907716 NA 0.982558 0.916704 NA 0.942 NA 2.080742 1452 2 227973623 227973623 A G intronic COL4A4 NA NA NA intronic ENSG00000081052 NA NA NA NA NA 2q36.3 NA NA NA NA rs12475686 0.61 0.61 0.61 0.600439 0.671 0.5933 0.5231 0.6089 0.5787 0.65 0.61 0.57 0.6 0.6137 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.585733 NA NA 0.634766 0.596591 NA 0.551 NA 2.080534 1452 4 69875627 69875627 G A intronic UGT2B10 NA NA NA ncRNA_intronic ENSG00000251685 NA NA NA NA NA 4q13.2 NA NA NA NA rs2331627 0.49 0.49 0.473 0.488219 0.7813 0.1905 0.647 0.2723 0.6728 0.79 0.19 0.66 0.27 0.6872 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 -0.954945 NA NA 0.784412 0.383671 NA 0.601 NA 2.0804213 1452 19 58003728 58003728 G A intronic ZNF419 NA NA NA UTR3 ENSG00000105136 ENST00000518999:c.*117G>A NA NA NA NA 19q13.43 NA NA NA NA rs2074073 0.68 0.68 0.67 0.695487 0.6839 0.6984 0.7262 0.5787 0.8405 0.68 0.72 0.71 0.59 0.7126 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.222515 NA NA 0.689854 0.603881 NA 0.71 NA 2.0803127 1452 7 22197507 22197507 A G intronic RAPGEF5 NA NA NA intronic ENSG00000136237 NA NA NA Score=440;Name=lod=82 NA 7p15.3 NA NA NA NA rs7809342 0.98 0.98 0.974 0.978435 0.9662 0.9921 0.9899 0.972 0.9775 0.96 0.99 0.99 0.97 0.9761 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 0.643337 NA NA 0.977539 0.977407 NA 0.993 NA 2.080161 1452 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 1452 3 126739012 126739012 G T intronic PLXNA1 NA NA NA intronic ENSG00000114554 NA NA NA NA NA 3q21.3 NA NA NA NA rs891762 0.48 0.48 0.461 0.446286 0.6531 0.4226 0.5231 0.23 0.4959 0.66 0.42 0.56 0.21 0.5941 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 0.328322 NA NA 0.673488 0.287789 NA 0.435 NA 2.079312 1452 10 105821136 105821136 A T intronic COL17A1 NA NA NA intronic ENSG00000065618 NA NA NA NA NA 10q25.1 NA NA Name=2 NA rs805704 0.89 0.89 0.888 0.83726 0.9851 0.88 0.9395 0.5635 0.9387 0.99 0.88 0.96 0.71 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 -1.21219 NA NA 0.994419 0.764185 NA 0.826 NA 2.078981 1452 3 108776343 108776343 C T intronic MORC1 NA NA NA intronic ENSG00000114487 NA NA NA NA NA 3q13.13 Score=796;Name=V$MEF2_01 NA NA NA rs1031252 0.9 0.9 0.893 0.888379 0.9881 1 0.9424 0.6346 0.9755 0.99 1 0.93 0.64 0.9554 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.420719 NA NA 0.978488 0.702451 NA 0.87 NA 2.078012 1452 10 104157727 104157727 C T intronic NFKB2 NA NA NA intronic ENSG00000077150 NA NA NA NA NA 10q24.32 NA Name=CEBPB NA NA rs4919632 0.95 0.95 0.938 0.922125 0.9821 0.999 0.9654 0.7549 0.9765 0.98 1 0.96 0.83 0.9646 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.850184 1.850184 NA 0.975553 0.805732 NA 0.913 NA 2.077747 1452 17 71201675 71201675 T C intronic COG1 NA NA NA intronic ENSG00000166685 NA NA NA NA NA 17q25.1 NA NA NA NA rs3829571 0.89 0.89 0.872 0.863618 0.9891 0.8185 0.9697 0.7405 0.8722 0.99 0.82 0.96 0.74 0.9442 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 2.043382 2.043382 NA 0.989302 0.773718 NA 0.87 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081965.1;CLNDSDB=.;CLNDSDBID=. 2.077398 1452 11 64082437 64082437 C T intronic ESRRA NA NA NA intronic ENSG00000173153 NA NA NA NA NA 11q13.1 NA Name=CTCF_(SC-5916),CTCF NA NA rs650008 0.86 0.86 0.84 0.805312 0.994 0.9157 0.9524 0.5242 0.773 1 0.9 0.96 0.54 0.9339 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.301749 NA NA 0.996146 0.621174 NA 0.826 NA 2.075954 1452 6 43747450 43747450 G A intronic VEGFA NA NA NA intronic ENSG00000112715 NA NA NA NA NA 6p21.1 NA NA NA NA rs3025009 0.56 0.56 0.554 0.570487 0.6342 0.4425 0.5922 0.5182 0.6922 0.65 0.45 0.59 0.53 0.6671 0.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06562 NA NA 0.622856 0.563867 NA 0.645 NA 2.075844 1452 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 1452 4 87957989 87957989 T C intronic AFF1 NA NA NA intronic ENSG00000172493 NA NA NA NA NA 4q21.3 NA NA NA NA rs340629 0.9 0.9 0.855 0.891573 0.9722 0.8373 0.9654 0.8162 0.9141 0.98 0.85 0.97 0.78 0.9523 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 -0.958552 NA NA NA NA NA 0.906 NA 2.0755 1452 1 180080115 180080115 T G intronic CEP350 NA NA NA intronic ENSG00000135837 NA NA NA NA NA 1q25.2 NA NA NA NA rs3767202 0.58 0.58 0.538 0.551518 0.6451 0.7083 0.7248 0.1989 0.6472 0.65 0.73 0.69 0.21 0.637 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 0.797278 NA NA 0.642442 0.290059 NA 0.616 NA 2.075458 1452 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 1453 1 204216601 204216601 G A intronic PLEKHA6 NA NA NA intronic ENSG00000143850 NA NA NA NA NA 1q32.1 NA NA NA NA rs4288652 0.7 0.7 0.67 0.667732 0.6183 0.8085 0.7608 0.6589 0.5194 0.62 0.79 0.75 0.67 0.6695 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 0.946968 NA NA 0.637326 0.674535 NA 0.732 NA 2.074874 1453 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 1453 1 204216468 204216468 C T intronic PLEKHA6 NA NA NA intronic ENSG00000143850 NA NA NA NA NA 1q32.1 NA NA NA NA rs4512713 0.7 0.7 0.68 0.66893 0.6183 0.8085 0.7608 0.6589 0.5256 0.62 0.79 0.75 0.67 0.6703 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 -1.020776 NA NA 0.637093 0.674535 NA 0.732 NA 2.074307 1453 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 1453 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 1453 22 39414224 39414224 A G intronic APOBEC3C NA NA NA intronic ENSG00000243811,ENSG00000244509 NA NA NA NA NA 22q13.1 NA NA NA NA rs4821854 0.65 0.65 0.576 0.647764 0.6521 0.6548 0.7219 0.6762 0.545 0.65 0.64 0.7 0.62 0.6487 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.802426 NA NA 0.625698 0.677985 NA 0.638 NA 2.073502 1453 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 1453 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 1453 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 1453 11 34999745 34999745 C G intronic PDHX NA NA NA intronic ENSG00000110435 NA NA NA NA NA 11p13 NA NA NA NA rs10768108 0.54 0.54 0.504 0.495607 0.661 0.7421 0.5159 0.1044 0.5859 0.68 0.72 0.52 0.13 0.5994 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.164249 NA NA 0.668025 0.202543 NA 0.442 NA 2.071575 1453 7 142139783 142139783 C A intergenic LOC730441,MTRNR2L6 dist=167715;dist=234348 NA NA UTR5 ENSG00000211727 ENST00000390374:c.-13G>T NA NA NA NA 7q34 NA Name=Egr-1 NA NA rs361371 0.84 0.84 0.817 0.797125 0.9304 0.9266 0.8948 0.5348 0.8119 0.94 0.94 0.87 0.54 0.8917 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 -1.091566 NA NA 0.939805 0.630628 NA 0.746 NA 2.0714284 1453 17 37868715 37868715 C T intronic ERBB2 NA NA NA intronic ENSG00000141736 NA NA NA NA NA 17q12 NA NA NA NA rs4252627 0.48 0.48 0.5 0.444489 0.666 0.3988 0.4726 0.1793 0.6022 0.67 0.48 0.5 0.18 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 -0.026382 NA NA 0.65686 0.230141 ID=COSN165414;OCCURENCE=1(breast) 0.464 NA 2.07134 1453 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 1453 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 1453 13 73301655 73301655 A C intronic MZT1 NA NA NA intronic ENSG00000204899 NA NA NA NA NA 13q22.1 NA Name=YY1_(C-20),ELK4,YY1,ZNF263,Pol2(phosphoS2),Pol2,p300,TAF1,GABP,Pol2-4H8,ELF1_(SC-631),KAP1 NA NA rs1465897 0.9 0.9 0.877 0.869609 0.9881 0.9762 0.9712 0.5772 0.9611 0.99 0.98 0.97 0.61 0.9526 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 0.077205 NA NA 0.990349 0.648047 NA 0.848 NA 2.068951 1453 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 1453 17 73951864 73951864 T C intronic ACOX1 NA NA NA intronic ENSG00000161533 NA NA NA NA NA 17q25.1 NA NA NA NA rs10852766 0.57 0.57 0.505 0.549521 0.6412 0.7877 0.6744 0.1528 0.6575 0.67 0.76 0.63 0.16 0.6422 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 0.318036 NA NA 0.649535 0.228098 NA 0.609 NA 2.067065 1453 7 47947863 47947863 T C intronic PKD1L1 NA NA NA intronic ENSG00000136273,ENSG00000158683 NA NA NA NA NA 7p12.3 NA NA NA NA rs1474283 0.74 0.74 0.743 0.734026 0.6451 0.7312 0.6888 0.9213 0.6074 0.64 0.74 0.66 0.93 0.6671 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 2.862787 2.862787 NA 0.621279 0.878802 NA 0.812 NA 2.066521 1453 14 21024605 21024605 G A UTR3 RNASE9 NM_001110360:c.*6C>T,NM_001110361:c.*6C>T,NM_001110359:c.*6C>T,NM_001110358:c.*6C>T,NM_001110357:c.*6C>T,NM_001110356:c.*6C>T,NM_001001673:c.*6C>T NA NA UTR3 ENSG00000188655 ENST00000557209:c.*6C>T,ENST00000553706:c.*6C>T,ENST00000429244:c.*6C>T,ENST00000553541:c.*6C>T,ENST00000556208:c.*6C>T,ENST00000404716:c.*6C>T,ENST00000557068:c.*6C>T,ENST00000555230:c.*6C>T,ENST00000554964:c.*6C>T,ENST00000338904:c.*6C>T NA NA NA NA 14q11.2 NA NA NA NA rs8014474 0.59 0.59 0.56 0.572284 0.7803 0.6548 0.6441 0.1823 0.7495 0.78 0.67 0.62 0.18 0.7076 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 -0.089734 NA NA 0.77907 0.258511 NA 0.565 NA 2.0663634 1453 14 21109859 21109859 T C upstream OR6S1 NA NA NA upstream ENSG00000181803 NA NA NA NA NA 14q11.2 NA NA NA NA rs11156622 0.47 0.47 0.446 0.461462 0.5338 0.2887 0.5461 0.4939 0.4611 0.53 0.32 0.59 0.47 0.5112 0.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.296847 NA NA 0.555387 0.512768 NA 0.377 NA 2.0662796 1453 15 85382193 85382193 C A intronic ALPK3 NA NA NA intronic ENSG00000136383 NA NA NA NA NA 15q25.3 NA NA NA NA rs1896864 0.73 0.73 0.742 0.725839 0.6262 0.9345 0.6499 0.7005 0.7014 0.63 0.93 0.66 0.7 0.6708 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 0.459771 NA NA 0.637241 0.701997 NA 0.768 NA 2.065759 1453 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 1454 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 1454 1 156785771 156785771 A G intronic NTRK1,SH2D2A NA NA NA intronic ENSG00000027869,ENSG00000198400 NA NA NA NA NA 1q23.1 NA NA NA NA rs7546838 0.63 0.63 0.587 0.616014 0.661 0.8125 0.6398 0.4062 0.6339 0.66 0.81 0.65 0.38 0.6336 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 -0.333504 NA NA 0.641395 0.448933 NA 0.543 NA 2.064005 1454 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 1454 1 93649732 93649732 A G intronic CCDC18 NA NA NA intronic ENSG00000122483 NA NA NA NA NA 1p22.1 NA NA NA NA rs6682670 0.54 0.54 0.484 0.515775 0.6541 0.6448 0.6023 0.1339 0.6953 0.66 0.66 0.61 0.16 0.6248 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 0.847774 NA NA 0.658025 0.229061 NA 0.457 NA 2.063075 1454 18 28969008 28969008 C T intronic DSG4 NA NA NA ncRNA_intronic ENSG00000266729 NA NA NA NA NA 18q12.1 NA NA NA NA rs16959863 0.77 0.77 0.758 0.715855 0.7644 0.8839 0.8573 0.5098 0.6708 0.76 0.92 0.85 0.55 0.7436 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 -0.435345 NA NA 0.76227 0.544712 NA 0.754 NA 2.0630633 1454 1 16736546 16736546 C T intronic SPATA21 NA NA NA intronic ENSG00000187144 NA NA NA NA NA 1p36.13 NA NA NA NA rs10907226 0.7 0.7 0.712 0.620607 0.6421 0.9097 0.5346 0.5953 0.3957 0.65 0.93 0.57 0.61 0.6409 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 0.596157 NA NA 0.654067 0.633049 NA 0.725 NA 2.062933 1454 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 1454 12 42503505 42503505 T A intronic GXYLT1 NA NA NA intronic ENSG00000151233 NA NA NA NA NA 12q12 NA NA NA NA rs824695 NA NA NA 0.991613 0.9672 0.999 0.9899 1 0.999 NA NA NA NA 0.9716 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 0.138071 NA NA NA NA NA 0.754 NA 2.0612 1454 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 1454 17 42855248 42855248 T C intronic ADAM11 NA NA NA intronic ENSG00000073670 NA NA NA NA NA 17q21.31 NA NA NA NA rs2070603 0.65 0.65 0.624 0.645367 0.6769 0.7698 0.6931 0.447 0.7188 0.67 0.78 0.67 0.45 0.641 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 -2.317973 NA NA 0.621512 0.497503 NA 0.645 NA 2.060588 1454 17 27225937 27225937 C T intronic DHRS13 NA NA NA ncRNA_intronic ENSG00000266642 NA NA NA NA NA 17q11.2 NA NA NA NA rs4795473 0.73 0.73 0.745 0.761382 0.7316 0.7202 0.719 0.789 0.8272 0.73 0.68 0.7 0.8 0.7762 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 0.47697 NA NA 0.765031 0.771186 NA 0.775 NA 2.0605023 1454 3 128853622 128853622 C G intronic ISY1,ISY1-RAB43 NA NA NA intronic ENSG00000240682,ENSG00000261796 NA NA NA NA NA 3q21.3 NA NA NA NA rs7646403 0.93 0.93 0.928 0.915335 0.9901 0.9891 0.9135 0.7685 0.9622 0.99 0.99 0.92 0.78 0.9498 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 0.54856 NA NA NA NA NA 0.928 NA 2.0601 1454 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 1454 12 52789509 52789509 T C intronic KRT82 NA NA NA ncRNA_intronic ENSG00000258253 NA NA NA NA NA 12q13.13 NA NA NA NA rs1732264 0.8 0.8 0.809 0.825679 0.7336 0.7421 0.8545 0.9448 0.8252 0.73 0.8 0.83 0.91 0.7842 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 1.213077 NA NA 0.75593 0.92374 NA 0.746 NA 2.0596033 1454 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 1454 1 22063149 22063149 G A intronic USP48 NA NA NA intronic ENSG00000090686 NA NA NA NA NA 1p36.12 NA NA NA NA rs10753517 0.6 0.6 0.532 0.586062 0.6252 0.6567 0.7421 0.3873 0.6309 0.63 0.66 0.73 0.38 0.6604 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 -0.218971 NA NA 0.655814 0.433273 NA 0.616 NA 2.058586 1454 22 39355717 39355717 G A intronic APOBEC3A,APOBEC3A_B NA NA NA intronic ENSG00000128383 NA NA NA NA NA 22q13.1 NA NA NA NA rs5750717 0.78 0.78 0.788 0.820088 0.6243 0.9633 0.6787 0.9455 0.8047 0.63 0.96 0.63 0.93 0.6991 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 -0.234334 NA NA 0.61814 0.888561 NA 0.812 NA 2.05846 1454 5 75960825 75960825 G C intronic IQGAP2 NA NA NA intronic ENSG00000145703 NA NA NA NA NA 5q13.3 NA NA NA NA rs253092 0.85 0.85 0.765 0.311701 0.2048 0.5655 0.3847 0.1891 0.274 0.88 0.91 0.81 0.75 0.8674 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 -0.331842 NA NA 0.87 0.79178 NA 0.377 NA 2.0578 1454 8 21891968 21891968 C G intronic NPM2 NA NA NA intronic ENSG00000158806 NA NA NA NA NA 8p21.3 NA NA NA NA rs4871915 0.96 0.96 0.954 0.960863 0.9672 0.9871 0.987 0.9062 0.9826 0.96 0.99 0.99 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 0.058613 NA NA 0.975173 0.922688 NA 0.964 NA 2.057627 1454 17 80007887 80007887 A G intronic RFNG NA NA NA intronic ENSG00000169733 NA NA NA NA NA 17q25.3 NA NA NA NA rs9915228 0.57 0.57 0.578 0.541933 0.6382 0.3115 0.6311 0.6437 0.4796 0.65 0.32 0.64 0.68 0.6333 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.317448 NA NA 0.671166 0.649727 NA 0.623 NA 2.057334 1454 14 21486137 21486137 G C intronic NDRG2 NA NA NA intronic ENSG00000165795 NA NA NA NA NA 14q11.2 NA NA Name=3 NA rs1243445 0.99 0.99 0.994 0.992612 0.9771 1 0.9971 1 0.9877 0.98 1 0.99 1 0.9872 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.958406 1.958406 NA 0.978372 0.996823 NA 1 NA 2.057328 1454 4 54310188 54310188 A G intronic FIP1L1 NA NA NA intronic ENSG00000145216 NA NA NA NA NA 4q12 NA NA NA NA rs11722866 0.5 0.5 0.472 0.457668 0.672 0.4722 0.6282 0.2451 0.3885 0.69 0.46 0.57 0.22 0.59 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 0.494689 NA NA 0.680972 0.33409 NA 0.536 NA 2.057028 1454 15 99456553 99456553 G A intronic IGF1R NA NA NA intronic ENSG00000140443 NA NA NA NA NA 15q26.3 NA NA NA NA rs951715 0.62 0.62 0.649 0.631589 0.6541 0.5159 0.5807 0.6377 0.7556 0.66 0.52 0.6 0.68 0.6396 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 -0.892711 NA NA 0.649407 0.648384 NA 0.601 NA 2.056893 1454 11 57379170 57379170 A G intronic SERPING1 NA NA NA intronic ENSG00000149131 NA NA NA NA NA 11q12.1 NA NA NA NA rs2511988 0.49 0.49 0.478 0.483826 0.672 0.2371 0.487 0.4871 0.5378 0.68 0.23 0.5 0.5 0.5866 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.352363 NA NA 0.684707 0.512949 NA 0.645 NA 2.056693 1454 5 75936944 75936944 G A intronic IQGAP2 NA NA NA intronic ENSG00000145703 NA NA NA NA NA 5q13.3 NA NA NA NA rs457821 0.61 0.61 0.6 0.640176 0.666 0.6339 0.5648 0.556 0.7873 0.66 0.63 0.6 0.53 0.64 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 0.46401 NA NA 0.637674 0.566954 NA 0.616 NA 2.056326 1454 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 1454 17 37070737 37070737 A G intronic LASP1 NA NA NA intronic ENSG00000002834 NA NA NA NA NA 17q12 NA NA NA NA rs525767 0.68 0.68 0.701 0.670527 0.6471 0.5933 0.5504 0.8949 0.5562 0.66 0.59 0.58 0.87 0.6429 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 0.214785 NA NA 0.654106 0.844757 NA 0.761 NA 2.055894 1454 20 60574216 60574216 C T intronic TAF4 NA NA NA intronic ENSG00000130699 NA NA NA NA NA 20q13.33 NA NA NA NA rs2296083 0.62 0.62 0.605 0.591853 0.671 0.6518 0.5893 0.5038 0.5695 0.66 0.65 0.6 0.54 0.6147 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 -0.100617 NA NA 0.658943 0.521477 NA 0.587 NA 2.055357 1454 3 197496984 197496984 A G intronic FYTTD1 NA NA NA intronic ENSG00000122068 NA NA NA NA NA 3q29 Score=912;Name=V$POU3F2_02 NA NA NA rs1708460 0.99 0.99 0.989 0.992412 0.9801 1 0.9813 0.9992 0.9959 0.98 1 0.98 1 0.985 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.824448 1.824448 NA 0.979642 0.996369 NA 1 NA 2.055258 1454 4 54310281 54310281 T G intronic FIP1L1 NA NA NA intronic ENSG00000145216 NA NA NA NA NA 4q12 NA NA NA NA rs11723755 0.51 0.51 0.499 0.466653 0.672 0.4722 0.6282 0.2784 0.3896 0.69 0.46 0.57 0.26 0.5921 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 -0.43051 NA NA 0.680898 0.357694 NA 0.543 NA 2.055002 1455 2 103141447 103141447 A G intronic SLC9A4 NA NA NA intronic ENSG00000180251 NA NA NA NA NA 2q12.1 NA NA NA NA rs2015478 0.66 0.66 0.652 0.638179 0.675 0.5298 0.6902 0.7216 0.5624 0.68 0.53 0.71 0.75 0.6355 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 0.785088 NA NA 0.634767 0.695188 NA 0.79 NA 2.054733 1455 17 31319024 31319024 A C intronic SPACA3 NA NA NA intronic ENSG00000141316 NA NA NA NA NA 17q11.2 NA NA NA NA rs2188953 0.64 0.64 0.615 0.679113 0.6233 0.5575 0.7089 0.7602 0.7311 0.6 0.54 0.71 0.77 0.6659 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 0.441474 NA NA 0.656279 0.760554 NA 0.783 NA 2.054521 1455 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 1455 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 1455 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 1455 13 26155953 26155953 G C intronic ATP8A2 NA NA NA intronic ENSG00000132932 NA NA NA NA NA 13q12.13 NA NA NA NA rs7335339 0.43 0.43 0.428 0.43111 0.67 0.0248 0.4524 0.5159 0.4744 0.65 0.01 0.51 0.5 0.5764 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 -0.423377 NA NA 0.699902 0.564394 NA 0.493 NA 2.053698 1455 17 80007897 80007897 G T intronic RFNG NA NA NA intronic ENSG00000169733 NA NA NA NA NA 17q25.3 NA NA NA NA rs9915742 0.58 0.58 0.584 0.552117 0.6382 0.3095 0.6311 0.6853 0.4775 0.65 0.32 0.64 0.72 0.6362 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.636975 NA NA 0.67202 0.684679 NA 0.63 NA 2.05358 1455 19 17533126 17533126 A G intronic MVB12A NA NA NA ncRNA_exonic ENSG00000269481 NA NA NA NA NA 19p13.11 NA NA NA NA rs2303678 0.6 0.6 0.573 0.559704 0.7793 0.3353 0.6888 0.5174 0.5307 0.78 0.37 0.72 0.5 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 -0.649286 NA NA 0.809186 0.539492 NA 0.652 NA 2.0534473 1455 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 1455 9 111899928 111899928 A G intronic FRRS1L NA NA NA intronic ENSG00000136805 NA NA NA NA NA 9q31.3 NA NA NA NA rs10759329 0.62 0.62 0.64 0.599241 0.668 0.6558 0.5893 0.5492 0.545 0.67 0.65 0.57 0.55 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 0.01552 NA NA 0.658372 0.569678 NA 0.623 NA 2.052828 1455 6 78171941 78171941 C T downstream HTR1B NA NA NA downstream ENSG00000135312 NA NA NA NA NA 6q14.1 Score=805;Name=V$XBP1_01 NA NA NA rs6297 0.9 0.9 0.907 0.923522 0.8638 0.8938 0.9294 0.9947 0.9151 0.86 0.88 0.91 0.99 0.8885 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 0.04624 NA NA 0.861628 0.969814 NA 0.964 NA 2.0527386 1455 7 95864108 95864108 T C intronic SLC25A13 NA NA NA intronic ENSG00000004864 NA NA NA NA NA 7q21.3 NA NA NA NA rs6957975 0.65 0.65 0.621 0.609824 0.663 0.4534 0.6758 0.7617 0.4642 0.66 0.49 0.69 0.78 0.6179 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 1.689217 1.689217 NA 0.666395 0.733091 NA 0.674 NA 2.052705 1455 11 26584625 26584625 C A intronic ANO3,MUC15 NA NA NA intronic ENSG00000134343,ENSG00000169550 NA NA NA NA NA 11p14.2 NA NA NA NA rs444178 0.58 0.58 0.558 0.584065 0.659 0.4425 0.7493 0.5666 0.5593 0.66 0.42 0.71 0.57 0.6421 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485407 NA NA 0.646395 0.584657 NA 0.572 NA 2.052505 1455 15 42028354 42028354 C A intronic MGA NA NA NA intronic ENSG00000174197 NA NA NA NA NA 15q15.1 NA NA NA NA rs2577960 0.72 0.72 0.741 0.724641 0.6193 0.8125 0.5519 0.8805 0.6544 0.61 0.83 0.57 0.88 0.6828 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 -1.300773 NA NA 0.645761 0.830125 NA 0.826 NA 2.052139 1455 3 66463251 66463251 G A intronic LRIG1 NA NA NA intronic ENSG00000144749 NA NA NA NA NA 3p14.1 NA Name=BCL3 NA NA rs4856924 0.93 0.93 0.935 0.923522 0.9851 0.9911 0.9308 0.7776 0.9826 0.98 0.99 0.94 0.79 0.9676 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.814175 NA NA 0.995233 0.809578 NA 0.906 NA 2.052067 1455 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 1455 1 179983665 179983665 G A intronic CEP350 NA NA NA intronic ENSG00000135837 NA NA NA NA NA 1q25.2 NA NA NA NA rs2501607 0.59 0.59 0.556 0.564696 0.6461 0.7004 0.7349 0.2481 0.6483 0.65 0.72 0.7 0.26 0.6586 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.963186 NA NA 0.643929 0.342237 NA 0.616 NA 2.051371 1455 4 54327235 54327235 T C intronic LNX1 NA NA NA intronic ENSG00000072201,ENSG00000145216 NA NA NA NA NA 4q12 NA NA NA NA rs3811785 0.5 0.5 0.502 0.456869 0.671 0.4722 0.6282 0.2443 0.3865 0.69 0.46 0.57 0.22 0.5976 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 -0.910406 NA NA 0.681278 0.335834 NA 0.536 NA 2.050122 1455 10 49667713 49667713 G A intronic ARHGAP22 NA NA NA intronic ENSG00000128805 NA NA NA NA NA 10q11.22 NA Name=CTCF NA NA rs1867575 0.91 0.91 0.895 0.894968 0.994 0.999 0.9683 0.6407 0.9775 1 1 0.96 0.62 0.9633 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.202977 NA NA 0.993023 0.692011 NA 0.841 NA 2.049677 1455 6 7606255 7606255 G A intronic SNRNP48 NA NA NA intronic ENSG00000168566 NA NA NA NA NA 6p24.3 NA NA NA NA rs2757597 0.69 0.69 0.683 0.704273 0.6451 0.6032 0.6628 0.8608 0.6871 0.66 0.62 0.67 0.84 0.6616 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 -0.64083 NA NA 0.643837 0.8266 NA 0.754 NA 2.049463 1455 2 202501448 202501448 T C intronic TMEM237 NA NA NA intronic ENSG00000155755 NA NA NA NA NA 2q33.1 NA NA NA NA rs1208081 0.57 0.57 0.587 0.585064 0.6233 0.3542 0.549 0.7012 0.6524 0.62 0.37 0.63 0.65 0.6566 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 3.730813 3.730813 NA 0.671474 0.662243 NA 0.659 NA 2.048626 1455 11 7686596 7686596 G A UTR3 CYB5R2 NM_016229:c.*9C>T NA NA UTR3 ENSG00000166394 ENST00000299498:c.*9C>T,ENST00000524790:c.*239C>T,ENST00000533558:c.*9C>T NA NA NA NA 11p15.4 NA NA NA NA rs13172 0.77 0.77 0.766 0.768371 0.7604 0.7708 0.6686 0.8381 0.7505 0.77 0.78 0.69 0.84 0.7697 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 0.721573 NA NA 0.754772 0.828033 NA 0.717 NA 2.0484614 1455 X 2748253 2748253 G C intronic GYG2 NA NA NA intronic ENSG00000056998 NA NA NA NA NA Xp22.33 NA NA NA NA rs6642032 0.93 0.93 0.93323 NA NA NA NA NA NA 0.99 0.99 0.9 0.77 0.9577 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 -0.859754 NA NA 0.994051 0.808083 NA 0.696 NA 2.048249 1455 14 106385332 106385332 G C ncRNA_intronic KIAA0125 NA NA NA intronic ENSG00000226777 NA NA NA NA NA 14q32.33 NA NA NA NA rs2250700 0.74 0.74 0.748 0.761581 0.7932 0.8522 0.6412 0.7496 0.7372 0.76 0.82 0.7 0.68 0.7345 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 -1.136219 NA NA 0.757513 0.745308 ID=COSN393071;OCCURENCE=1(lung) 0.413 NA 2.0481203 1455 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 1455 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 1455 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 1455 16 57984483 57984483 G A intronic CNGB1 NA NA NA intronic ENSG00000070729 NA NA NA NA NA 16q21 NA NA Name=3 NA rs152143 0.99 0.99 0.996 0.991214 0.9851 1 0.9813 0.9992 0.9847 0.99 1 0.97 1 0.9876 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.152702 NA NA 0.981521 0.996265 NA 0.986 NA 2.045779 1455 15 74623272 74623272 G A intronic CCDC33 NA NA NA intronic ENSG00000140481 NA NA NA NA NA 15q24.1 NA NA NA NA rs2277605 0.46 0.46 0.443 0.428514 0.667 0.3611 0.3919 0.2716 0.4908 0.67 0.34 0.46 0.29 0.5947 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 0.254871 NA NA 0.69276 0.327844 NA 0.399 NA 2.04554 1456 8 38003787 38003787 T C intronic STAR NA NA NA intronic ENSG00000147465 NA NA NA NA NA 8p11.23 Score=903;Name=V$AREB6_03 NA NA NA rs2720050 0.98 0.98 0.979 0.965655 0.9891 0.997 0.9827 0.9508 0.9172 0.99 1 0.99 0.95 0.9796 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.039819 NA NA 0.987791 0.95438 NA 0.971 NA 2.043509 1456 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 1456 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 1456 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 1456 3 3215954 3215954 A G intronic CRBN NA NA NA intronic ENSG00000113851 NA NA NA NA NA 3p26.2 NA NA NA NA rs1669321 0.9 0.9 0.877 0.883786 0.994 1 0.9712 0.5794 1 0.99 1 0.98 0.58 0.9673 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.52551 1.52551 NA 0.997674 0.656151 NA 0.899 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116835.1;CLNDSDB=.;CLNDSDBID=. 2.041026 1456 4 69343353 69343353 A G intronic TMPRSS11E NA NA NA intronic ENSG00000087128 NA NA NA NA NA 4q13.2 NA NA NA NA rs1026341 0.7 0.7 0.697 0.725639 0.6302 0.8542 0.7565 0.6422 0.7822 0.63 0.84 0.74 0.63 0.6845 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 -0.220105 NA NA 0.644302 0.612801 NA 0.739 NA 2.040998 1456 12 57869447 57869447 T C intronic ARHGAP9 NA NA NA intronic ENSG00000123329 NA NA NA NA NA 12q13.3 NA NA NA NA rs2277318 0.58 0.58 0.638 0.570887 0.672 0.3988 0.4712 0.7254 0.5061 0.66 0.38 0.51 0.73 0.6006 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 0.8341 NA NA 0.686459 0.71298 NA 0.609 NA 2.040941 1456 19 50919797 50919797 C T intronic POLD1 NA NA NA intronic ENSG00000062822,ENSG00000142539 NA NA NA NA NA 19q13.33 NA NA NA NA rs3218776 0.46 0.46 0.45 0.408347 0.6879 0.1429 0.647 0.2837 0.3937 0.7 0.13 0.63 0.33 0.5793 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 -1.643794 NA NA 0.691867 0.364884 NA 0.362 NA 2.040933 1456 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 1456 2 11738765 11738765 C T intronic GREB1 NA NA NA intronic ENSG00000196208 NA NA NA NA NA 2p25.1 NA Name=GR NA NA rs1865575 0.94 0.94 0.924 0.911741 0.995 0.9692 0.9683 0.739 0.9601 1 0.96 0.98 0.78 0.9707 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.157172 NA NA 0.994639 0.803492 NA 0.891 NA 2.039661 1456 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 1456 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 1456 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 1456 17 12620761 12620761 A G intronic MYOCD NA NA NA ncRNA_exonic ENSG00000266221 NA NA NA NA NA 17p12 NA NA NA NA rs12944823 0.73 0.73 0.721 0.702676 0.7773 0.7272 0.5879 0.6967 0.6902 0.79 0.73 0.68 0.7 0.7388 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 0.445112 NA NA 0.77814 0.697912 NA 0.79 NA 2.0390933 1456 5 1409127 1409127 T C intronic SLC6A3 NA NA NA intronic ENSG00000142319 NA NA NA NA NA 5p15.33 NA Name=ZNF263 NA NA rs429699 0.91 0.91 0.915 0.936701 0.999 0.7679 0.9049 0.9977 0.9867 1 0.74 0.89 1 0.9639 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.755679 NA NA 0.998256 0.993636 NA 0.928 NA 2.038844 1456 1 38148765 38148765 A G UTR3 C1orf109 NM_017850:c.*30T>C NA NA UTR3 ENSG00000116922 ENST00000358011:c.*30T>C NA NA NA NA 1p34.3 NA NA NA NA rs684260 0.83 0.83 0.822 0.828474 0.7654 0.9514 0.7954 0.8343 0.7822 0.76 0.94 0.8 0.83 0.7846 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 0.94396 NA NA 0.745 0.816387 NA 0.87 NA 2.0383334 1456 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 1456 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 1456 5 139941318 139941318 A G intronic APBB3 NA NA NA UTR5;UTR3 ENSG00000113108;ENSG00000113108 ENST00000508496:c.-69T>C;ENST00000511896:c.*363T>C NA NA NA NA 5q31.3 NA NA NA NA rs171632 0.72 0.72 0.713 0.704473 0.7197 0.8254 0.7536 0.5492 0.7393 0.72 0.83 0.75 0.56 0.7071 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 -0.23678 NA NA 0.70314 0.591239 NA 0.783 NA 2.0367267 1456 X 47061018 47061018 C G intronic UBA1 NA NA NA intronic ENSG00000130985 NA NA NA NA NA Xp11.23 NA NA NA NA rs4239964 0.98 0.98 NA NA NA NA NA NA NA 0.98 0.96 0.99 1 0.9795 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.563616 NA NA 0.984092 0.998175 NA 0.746 NA 2.036408 1456 3 50224225 50224225 A G intronic SEMA3F NA NA NA intronic ENSG00000001617 NA NA NA NA NA 3p21.31 NA NA NA NA rs12632110 0.56 0.56 0.582 0.595647 0.663 0.3671 0.4784 0.5719 0.8773 0.68 0.4 0.51 0.61 0.6563 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.010867 NA NA 0.644403 0.5775 NA 0.601 NA 2.036297 1456 8 121530061 121530061 C T intronic MTBP NA NA NA intronic ENSG00000172167 NA NA NA NA NA 8q24.12 NA NA NA NA rs13258768 0.53 0.53 0.493 0.48762 0.6869 0.5764 0.6138 0.1793 0.5184 0.68 0.56 0.63 0.19 0.6053 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.225182 NA NA 0.672017 0.25488 NA 0.471 NA 2.035783 1456 2 220246218 220246218 T C intronic DNPEP NA NA NA intronic ENSG00000123992 NA NA NA NA NA 2q35 NA Name=TAL1_(SC-12984) NA NA rs6436148 0.92 0.92 0.901 0.907748 0.996 0.9246 0.9755 0.733 0.9877 1 0.93 0.98 0.74 0.9708 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.915613 NA NA 0.997591 0.786256 NA 0.884 NA 2.035609 1456 6 15374508 15374508 A G intronic JARID2 NA NA NA intronic ENSG00000008083 NA NA NA NA NA 6p22.3 NA NA Name=9 NA rs9383050 1 1 0.996 0.996805 0.9881 1 0.9957 0.9992 1 0.99 1 1 1 0.9915 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.104996 NA NA 0.984884 0.996596 NA 0.978 NA 2.035516 1456 7 48335265 48335265 C T intronic ABCA13 NA NA NA intronic ENSG00000179869 NA NA NA NA NA 7p12.3 NA NA NA NA rs10280046 0.78 0.78 0.766 0.807708 0.6034 0.9881 0.7896 0.8343 0.8088 0.59 0.99 0.77 0.83 0.7212 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 1.180307 NA NA 0.639951 0.810716 NA 0.841 NA 2.035449 1457 12 48888763 48888763 A G splicing C12orf54 NM_152319:exon8:c.424+1A>G NA NA splicing ENSG00000177627 ENST00000314014:exon8:c.424+1A>G,ENST00000548364:exon7:c.424+1A>G,ENST00000380491:exon8:c.623+1A>G,ENST00000549398:exon3:c.256+1A>G NA NA NA NA 12q13.11 NA NA NA NA rs2705132 0.91 0.91 0.89 0.890375 0.999 1 0.9683 0.6021 1 1 1 0.97 0.64 0.9677 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.610978 NA NA 0.998721 0.64571 NA 0.87 NA 2.034579 1457 1 236702153 236702153 G A intronic LGALS8 NA NA NA intronic ENSG00000116977 NA NA NA NA NA 1q43 NA NA NA NA rs2244808 0.55 0.55 0.539 0.495807 0.675 0.4573 0.5072 0.4448 0.4121 0.68 0.48 0.54 0.46 0.6085 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.665807 NA NA 0.682093 0.492964 NA 0.601 NA 2.034407 1457 12 10871667 10871667 A G intronic YBX3 NA NA NA intronic ENSG00000060138 NA NA NA NA NA 12p13.2 NA NA Name=2 NA rs33016 0.95 0.95 0.943 0.941693 0.9881 0.9712 0.9827 0.8328 0.9816 0.99 0.97 0.98 0.86 0.9785 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.369186 NA NA 0.99907 0.853382 NA 0.92 NA 2.03433 1457 10 5498248 5498248 G T intronic NET1 NA NA NA intronic ENSG00000173848 NA NA NA NA NA 10p15.1 NA NA NA NA rs4242790 0.64 0.64 0.616 0.6252 0.6531 0.6508 0.7637 0.5598 0.5603 0.64 0.64 0.72 0.57 0.6722 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.116545 NA NA 0.640614 0.565819 NA 0.565 NA 2.034086 1457 9 132396281 132396281 G C intronic NTMT1 NA NA NA intronic ENSG00000148335 NA NA NA NA NA 9q34.11 NA NA NA NA rs10819551 0.96 0.96 0.959 0.967652 0.9801 0.9633 0.9438 0.966 0.9785 0.98 0.97 0.95 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 -0.273633 NA NA 0.985937 0.966324 NA 0.957 NA 2.033963 1457 16 56362725 56362725 T C intronic GNAO1 NA NA NA intronic ENSG00000087258 NA NA NA NA NA 16q12.2 NA NA NA NA rs2241952 0.61 0.61 0.547 0.592652 0.6302 0.7827 0.6729 0.323 0.6656 0.63 0.76 0.7 0.34 0.6646 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 -0.735245 NA NA 0.671395 0.372839 NA 0.529 NA 2.033805 1457 3 51273773 51273773 T C intronic DOCK3 NA NA NA intronic ENSG00000088538 NA NA NA Score=422;Name=lod=69 NA 3p21.2 NA NA NA NA rs1480361 0.99 0.99 0.995 0.996406 0.9881 1 0.9957 0.9992 0.998 0.99 1 0.99 1 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 2.094114 2.094114 NA 0.987936 0.998669 NA 1 NA 2.033164 1457 4 56465418 56465418 T C intronic NMU NA NA NA intronic ENSG00000109255 NA NA NA NA NA 4q12 NA NA NA NA rs1387198 0.97 0.97 0.959 0.968051 0.9801 1 0.9755 0.9107 0.9949 0.99 1 0.98 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 -0.151584 NA NA 0.987099 0.927746 NA 0.92 NA 2.032801 1457 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 1457 1 236718561 236718561 G A intronic HEATR1 NA NA NA intronic ENSG00000119285 NA NA NA NA NA 1q43 NA NA NA NA rs6668926 0.55 0.55 0.527 0.484625 0.6759 0.4772 0.5072 0.3865 0.4121 0.68 0.49 0.54 0.41 0.6092 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.229636 NA NA 0.682674 0.442578 ID=COSN163484;OCCURENCE=1(breast) 0.609 NA 2.032226 1457 15 52681573 52681573 A G intronic MYO5A NA NA NA intronic ENSG00000197535 NA NA NA NA NA 15q21.2 NA NA NA NA rs1724623 0.97 0.97 NA 0.96246 0.999 1 0.9928 0.8623 1 1 1 0.99 0.87 0.9688 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.146491 NA NA NA NA NA 0.899 NA 2.0322 1457 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 1457 12 124885249 124885249 C T intronic NCOR2 NA NA NA intronic ENSG00000196498 NA NA NA NA NA 12q24.31 NA NA NA NA rs2293514 0.59 0.59 0.551 0.584265 0.6501 0.7312 0.6931 0.3238 0.6401 0.65 0.73 0.67 0.29 0.649 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 -0.435983 NA NA 0.668881 0.394517 NA 0.565 NA 2.032019 1457 17 76496577 76496577 C T ncRNA_exonic LOC100996295 NA NA NA UTR3 ENSG00000268470 ENST00000598378:c.*14C>T NA NA NA NA 17q25.3 NA NA NA NA rs2028735 0.88 0.88 0.886 0.896765 0.8121 0.9702 0.889 0.8714 0.9479 0.83 0.97 0.86 0.89 0.85 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 -0.826661 NA NA 0.806421 0.878667 NA 0.913 NA 2.031479 1457 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 1457 8 121483196 121483196 G A intronic MTBP NA NA NA intronic ENSG00000172167 NA NA NA NA NA 8q24.12 NA NA NA NA rs13248998 0.53 0.53 0.512 0.5002 0.6879 0.5764 0.6138 0.2262 0.5184 0.68 0.56 0.63 0.21 0.6097 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.635269 NA NA 0.672638 0.321607 NA 0.5 NA 2.029762 1457 13 110819457 110819457 A G intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs652572 0.58 0.58 0.525 0.587061 0.67 0.6687 0.6888 0.3404 0.6789 0.64 0.67 0.68 0.33 0.6434 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.045666 NA NA 0.656977 0.409896 NA 0.616 NA 2.029623 1457 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 1457 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 1457 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 1457 1 175097349 175097349 C T intronic TNN NA NA NA intronic ENSG00000120332 NA NA NA NA NA 1q25.1 NA NA NA NA rs7547567 0.67 0.67 0.662 0.666733 0.668 0.4871 0.7435 0.8116 0.6002 0.68 0.48 0.73 0.81 0.6505 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 -0.160136 NA NA 0.65314 0.77576 ID=COSN163345;OCCURENCE=1(NS) 0.783 NA 2.02836 1457 20 56726107 56726107 C T intronic C20orf85 NA NA NA intronic ENSG00000124237 NA NA NA NA NA 20q13.32 NA Name=YY1_(C-20) NA NA rs6070358 0.99 0.99 0.993 0.99401 1 1 1 0.9773 1 1 1 1 0.97 0.9721 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.233386 NA NA 0.999767 0.977056 NA 0.92 NA 2.028133 1457 11 113576932 113576932 A G intronic TMPRSS5 NA NA NA intronic ENSG00000166682 NA NA NA NA NA 11q23.2 NA NA NA NA rs7926267 0.76 0.76 0.771 0.769169 0.6352 0.746 0.7565 0.9675 0.6718 0.63 0.76 0.76 0.96 0.688 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 -0.093003 NA NA 0.649346 0.919182 NA 0.804 NA 2.027454 1457 17 38252667 38252667 G A intronic NR1D1 NA NA NA intronic ENSG00000126368 NA NA NA NA NA 17q21.1 NA Name=USF2,Pol2,ELF1_(SC-631),NFKB,IRF4_(M-17),Pol2-4H8,BATF,TBP,Pol2(b) NA NA rs939346 0.99 0.99 0.99 0.996605 0.9861 1 0.9957 1 1 0.99 1 1 0.99 0.9949 1 NA NA 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 0.991628 0.997503 NA 1 NA 2.027372 1457 11 1220599 1220599 T C intergenic MUC2,MUC5B dist=116182;dist=23696 NA NA intergenic ENSG00000215182,ENSG00000117983 dist=58238;dist=23697 NA NA NA NA 11p15.5 NA NA NA NA rs28633254 0.44 0.44 0.425 0.505391 0.4076 0.3492 0.4452 0.6974 0.5501 0.41 0.28 0.42 0.71 0.5036 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.528249 NA NA 0.394992 0.642349 NA 0.471 NA 2.0271414 1457 21 47850405 47850405 C T intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs2839257 0.68 0.68 0.716 0.669129 0.6511 0.6181 0.5447 0.8298 0.6115 0.66 0.65 0.56 0.82 0.6653 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 -0.74085 NA NA 0.656802 0.800558 NA 0.732 NA 2.026798 1457 3 48897078 48897078 A G intronic SLC25A20 NA NA NA intronic ENSG00000178537 NA NA NA NA NA 3p21.31 NA NA NA NA rs6414612 0.99 0.99 0.993 0.995208 0.9911 1 0.9971 1 0.9867 0.99 1 0.99 1 0.9914 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098056 NA NA 0.99093 0.997957 NA 1 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000078685.1|RCV000128072.1;CLNDSDB=.|.;CLNDSDBID=.|. 2.02657 1457 12 131620738 131620738 A G intronic GPR133 NA NA NA intronic ENSG00000111452 NA NA NA NA NA 12q24.33 NA NA NA NA rs2280683 0.58 0.58 0.61 0.581669 0.667 0.4266 0.451 0.68 0.6135 0.67 0.41 0.49 0.71 0.6298 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605209 NA NA 0.677209 0.677647 NA 0.616 NA 2.025991 1457 1 179319580 179319580 T C intronic SOAT1 NA NA NA intronic ENSG00000057252 NA NA NA NA NA 1q25.2 NA NA NA NA rs3753527 0.74 0.74 0.737 0.732827 0.673 0.87 0.7205 0.7307 0.6646 0.66 0.87 0.69 0.75 0.6626 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 0.762417 NA NA 0.638605 0.716069 NA 0.703 NA 2.025795 1457 12 21807432 21807432 T C intronic LDHB NA NA NA intronic ENSG00000111716 NA NA NA NA NA 12p12.1 NA Name=Pol2-4H8 NA NA rs1677078 0.95 0.95 0.945 0.932308 0.997 1 0.9914 0.7579 0.9898 1 1 0.99 0.8 0.9805 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.476636 NA NA 0.997209 0.814117 NA 0.928 NA 2.025291 1457 17 72541838 72541838 A G intronic CD300C NA NA NA intronic ENSG00000167850 NA NA NA NA NA 17q25.1 NA NA NA NA rs809740 0.68 0.68 0.705 0.723842 0.6193 0.5823 0.5663 0.969 0.7577 0.63 0.56 0.58 0.96 0.7014 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 -0.554833 NA NA 0.654258 0.926591 NA 0.623 NA 2.025042 1458 14 68273430 68273430 A G intronic ZFYVE26 NA NA NA intronic ENSG00000072121 NA NA NA NA NA 14q24.1 NA NA NA NA rs181576 0.76 0.76 0.757 0.781749 0.6213 0.9722 0.7709 0.7602 0.7873 0.62 0.97 0.75 0.76 0.713 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 2.330921 2.330921 NA 0.64093 0.713345 NA 0.783 NA 2.02477 1458 11 76979465 76979465 A C intronic GDPD4 NA NA NA intronic ENSG00000178795 NA NA NA NA NA 11q13.5 NA NA NA NA rs1618188 0.77 0.77 0.766 0.748602 0.6322 0.745 0.8026 0.9592 0.5491 0.65 0.77 0.78 0.95 0.6944 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 -0.319983 NA NA 0.649115 0.908409 NA 0.797 NA 2.024285 1458 12 21791272 21791272 T C intronic LDHB NA NA NA intronic ENSG00000111716 NA NA NA NA NA 12p12.1 NA Name=GATA-1 NA NA rs1650289 0.95 0.95 0.949 0.932508 0.998 1 0.9914 0.7579 0.9898 1 1 0.99 0.8 0.9805 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66116 NA NA 0.997326 0.814571 NA 0.928 NA 2.024174 1458 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 1458 19 5696245 5696245 A G intronic LONP1 NA NA NA intronic ENSG00000196365 NA NA NA NA NA 19p13.3 NA NA NA NA rs4073993 0.55 0.55 0.489 0.540735 0.6839 0.2341 0.6153 0.6634 0.4908 0.66 0.22 0.64 0.67 0.603 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 -0.969727 NA NA 0.689535 0.676804 NA 0.543 NA 2.023565 1458 21 47410626 47410626 T G intronic COL6A1 NA NA NA intronic ENSG00000142156 NA NA NA NA NA 21q22.3 NA NA NA NA rs1980981 0.99 0.99 0.998 0.996406 0.9891 1 0.9942 1 0.9969 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 -0.222069 NA NA 0.987744 0.99711 NA 0.978 NA 2.023156 1458 8 139768085 139768085 G A intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs7825723 0.71 0.71 0.7 0.745008 0.6342 0.8681 0.7104 0.733 0.773 0.62 0.86 0.67 0.7 0.6935 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 0.029378 NA NA 0.649186 0.735815 NA 0.63 NA 2.023114 1458 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 1458 10 11797619 11797619 C G intronic ECHDC3 NA NA NA intronic ENSG00000134463 NA NA NA NA NA 10p14 NA Name=GR NA NA rs902892 0.94 0.94 0.927 0.92472 0.998 1 0.9784 0.7284 0.999 1 1 0.98 0.75 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 -0.322427 NA NA 0.998605 0.783477 NA 0.906 NA 2.022795 1458 14 24793600 24793600 G A intronic ADCY4 NA NA NA intronic ENSG00000129467 NA NA NA NA NA 14q12 Score=753;Name=V$HEN1_02 NA NA NA rs1884366 0.95 0.95 0.931 0.933906 0.999 1 0.9798 0.761 1 1 1 0.99 0.78 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 0.869856 NA NA 0.998837 0.775306 NA 0.92 NA 2.022263 1458 7 38813711 38813711 C T intronic VPS41 NA NA NA intronic ENSG00000006715 NA NA NA Score=552;Name=lod=233 NA 7p14.1 NA NA NA NA rs976350 1 1 0.994 0.992412 0.994 0.997 0.9957 0.9992 0.9744 0.99 1 0.99 1 0.992 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.702045 NA NA 0.991977 0.999546 NA 0.993 NA 2.022023 1458 1 158647631 158647631 T A intronic SPTA1 NA NA NA intronic ENSG00000163554 NA NA NA NA NA 1q23.1 NA Name=Pol2 NA NA rs325995 0.96 0.96 0.949 0.956869 0.996 1 0.9914 0.8442 1 1 1 0.99 0.84 0.9849 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.469826 NA NA 0.99712 0.876568 NA 0.971 NA 2.02198 1458 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 1458 17 60464688 60464688 C T intronic EFCAB3 NA NA NA intronic ENSG00000172421 NA NA NA NA NA 17q23.2 NA Name=MafK_(SC-477),MafK_(ab50322) NA NA rs9909704 0.94 0.94 0.926 0.925319 1 1 0.9755 0.73 1 1 1 0.98 0.75 0.979 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.440306 NA NA 0.999302 0.777122 NA 0.913 NA 2.021698 1458 12 53167313 53167313 T C intronic KRT76 NA NA NA intronic ENSG00000185069 NA NA NA NA NA 12q13.13 NA NA NA NA rs7399317 0.87 0.87 0.895 0.866813 0.9891 0.6508 0.8343 0.9546 0.8681 0.99 0.66 0.85 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 1.9377 1.9377 NA 0.990258 0.953757 NA 0.957 NA 2.020642 1458 15 42584909 42584909 C T intronic GANC NA NA NA intronic ENSG00000214013 NA NA NA Score=259;Name=lod=15 NA 15q15.1 NA NA NA NA rs4923939 0.96 0.96 0.953 0.946286 0.999 0.9415 0.9942 0.8994 0.9264 1 0.94 1 0.91 0.9812 1 NA NA 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 0.999302 0.9133 NA 0.964 NA 2.020498 1458 16 88713473 88713473 G A intronic CYBA NA NA NA intronic ENSG00000051523 NA NA NA NA NA 16q24.3 NA NA NA NA rs4782308 0.68 0.68 0.647 0.640974 0.6581 0.8661 0.6859 0.4644 0.5982 0.67 0.9 0.65 0.47 0.673 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 -0.465827 NA NA 0.649068 0.533546 NA 0.543 NA 2.019832 1458 1 155205669 155205669 G T intronic GBA NA NA NA intronic ENSG00000177628 NA NA NA NA NA 1q22 NA NA NA NA rs3115534 0.95 0.95 0.93 0.940895 0.996 0.999 0.9798 0.7912 0.999 1 1 0.98 0.79 0.9842 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.298051 1.298051 NA NA NA NA 0.471 NA 2.0198 1458 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 1458 2 206418032 206418032 G A intronic PARD3B NA NA NA intronic ENSG00000116117 NA NA NA Score=567;Name=lod=268 NA 2q33.3 NA NA NA NA rs6730102 0.95 0.95 0.935 0.942492 0.999 1 0.987 0.7897 1 1 1 0.99 0.79 0.9827 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.432361 3.432361 NA 0.999274 0.814139 NA 0.949 NA 2.019026 1458 1 2528133 2528133 T C intronic MMEL1 NA NA NA intronic ENSG00000142606 NA NA NA NA NA 1p36.32 NA NA NA NA rs2843401 0.57 0.57 0.56 0.501597 0.6889 0.4722 0.5519 0.3835 0.4632 0.69 0.53 0.58 0.41 0.6122 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 -1.024373 NA NA 0.68 0.425783 NA 0.529 NA 2.0189 1458 1 202386075 202386075 T C intronic PPP1R12B NA NA NA intronic ENSG00000077157 NA NA NA NA NA 1q32.1 NA NA Name=25 NA rs2843413 0.97 0.97 0.964 0.969449 0.997 1 0.9899 0.8926 0.999 1 1 0.99 0.88 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 -0.357616 NA NA 0.994419 0.915116 NA 0.942 NA 2.018881 1458 7 80378175 80378175 T C intronic SEMA3C NA NA NA intronic ENSG00000075223 NA NA NA NA NA 7q21.11 NA NA Name=4 NA rs2886793 0.95 0.95 0.923 0.940096 1 1 0.9928 0.7769 1 1 1 1 0.77 0.9821 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485136 NA NA 0.99907 0.82138 NA 0.928 NA 2.01883 1458 11 9316937 9316937 G A intronic TMEM41B NA NA NA intronic ENSG00000166471 NA NA NA Score=711;Name=lod=1032 NA 11p15.4 NA NA NA NA rs4601780 0.95 0.95 0.939 0.946286 0.998 0.999 0.9784 0.8101 1 1 1 0.99 0.8 0.9844 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.458025 NA NA 0.998833 0.827649 NA 0.87 NA 2.018767 1458 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 1458 13 110819460 110819460 G A intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs1778817 0.62 0.62 0.584 0.626997 0.672 0.6677 0.6974 0.4864 0.6789 0.64 0.67 0.69 0.48 0.6534 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 0.033841 NA NA 0.656628 0.518384 NA 0.674 NA 2.017972 1458 14 33046471 33046471 T G intronic AKAP6 NA NA NA intronic ENSG00000151320 NA NA NA NA NA 14q12 NA NA NA NA rs768787 0.7 0.7 0.687 0.68111 0.6561 0.8512 0.6225 0.5885 0.6984 0.65 0.85 0.64 0.62 0.6689 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 1.182968 NA NA 0.657093 0.615297 NA 0.558 NA 2.017907 1458 20 62319464 62319464 T C ncRNA_intronic RTEL1-TNFRSF6B NA NA NA intronic ENSG00000026036,ENSG00000258366 NA NA NA NA NA 20q13.33 NA NA NA NA rs2738785 0.69 0.69 0.696 0.716853 0.7952 0.2907 0.7133 0.9743 0.7301 0.78 0.27 0.78 0.96 0.746 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 1.018754 NA NA 0.774389 0.933151 NA 0.826 NA 2.0177443 1458 2 17954421 17954421 C G intronic GEN1 NA NA NA intronic ENSG00000163029,ENSG00000178295 NA NA NA NA NA 2p24.2 NA NA NA NA rs300177 0.78 0.78 0.791 0.811502 0.6382 0.9861 0.781 0.7625 0.8978 0.65 0.98 0.75 0.79 0.7165 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 -1.93182 NA NA 0.627665 0.752291 NA 0.71 NA 2.017635 1458 11 9812236 9812236 G A ncRNA_intronic SBF2-AS1 NA NA NA ncRNA_intronic ENSG00000246273 NA NA NA NA NA 11p15.4 NA NA NA NA rs2645029 0.84 0.84 0.826 0.802716 0.8907 0.6488 0.889 0.8729 0.7147 0.9 0.68 0.88 0.88 0.8584 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 -0.196188 NA NA 0.900047 0.856458 NA 0.775 NA 2.0175196 1458 12 21791455 21791455 A T intronic LDHB NA NA NA intronic ENSG00000111716 NA NA NA NA NA 12p12.1 NA Name=GATA-1 NA NA rs1427830 0.97 0.97 0.955 0.952276 0.998 1 0.9942 0.8328 0.9877 1 1 0.99 0.86 0.987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.03848 NA NA 0.99764 0.879002 NA 0.746 NA 2.01736 1458 10 134016115 134016115 G A intronic DPYSL4 NA NA NA intronic ENSG00000151640 NA NA NA NA NA 10q26.3 NA NA NA NA rs2637629 0.76 0.76 0.754 0.757188 0.6312 0.9583 0.7968 0.736 0.68 0.63 0.95 0.76 0.72 0.7013 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 0.982095 NA NA 0.650268 0.715486 NA 0.754 NA 2.017232 1458 17 18882991 18882991 T A intronic FAM83G,SLC5A10 NA NA NA intronic ENSG00000154025,ENSG00000188522 NA NA NA NA NA 17p11.2 NA NA NA NA rs2472714 0.99 0.99 0.999 0.990815 1 0.996 0.9409 1 0.999 1 0.99 0.95 1 0.983 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.483279 1.483279 NA NA NA NA 1 NA 2.017 1458 11 65480791 65480791 A G intronic KAT5 NA NA NA intronic ENSG00000172977 NA NA NA Score=736;Name=lod=1308 NA 11q13.1 NA NA NA NA rs551115 0.97 0.97 0.967 0.953474 0.997 1 0.9841 0.8343 1 1 1 0.98 0.88 0.9873 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.173252 4.173252 NA 0.998836 0.872045 NA 0.928 NA 2.016864 1458 3 140419715 140419715 C T intronic TRIM42 NA NA NA intronic ENSG00000155890 NA NA NA NA NA 3q23 NA NA NA NA rs1540506 0.51 0.51 0.488 0.486621 0.659 0.3899 0.6182 0.3593 0.4877 0.65 0.35 0.64 0.37 0.6196 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 1.829348 1.829348 NA 0.704651 0.399001 NA 0.522 NA 2.016749 1458 2 160176943 160176943 A C intronic BAZ2B NA NA NA intronic ENSG00000123636 NA NA NA Score=426;Name=lod=72 NA 2q24.2 NA NA NA NA rs174229 0.96 0.96 0.95 0.944089 0.999 1 0.987 0.7958 1 1 1 0.99 0.82 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 1.481852 1.481852 NA 0.999632 0.841571 NA 0.935 NA 2.016568 1458 X 15794815 15794815 G A intronic CA5B NA NA NA intronic ENSG00000169239 NA NA NA NA NA Xp22.2 NA NA NA NA rs5936050 1 1 NA NA NA NA NA NA NA 0.99 1 0.99 1 0.9928 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.163761 NA NA 0.990636 0.998957 NA 0.746 NA 2.016564 1458 17 73702402 73702402 T C intronic SAP30BP NA NA NA intronic ENSG00000161526 NA NA NA NA NA 17q25.1 NA Name=Pol2 NA NA rs820229 0.96 0.96 0.957 0.951877 1 0.994 0.9885 0.8525 0.9673 1 1 0.99 0.84 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 2.572366 2.572366 NA 0.998953 0.869496 NA 0.957 NA 2.016447 1458 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 1458 9 130868831 130868831 T C intronic SLC25A25 NA NA NA intronic ENSG00000148339 NA NA NA NA NA 9q34.11 NA Name=CTCF NA NA rs1418420 0.97 0.97 0.963 0.954073 1 1 0.9841 0.8343 1 1 1 0.99 0.87 0.985 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.575579 NA NA 0.999302 0.840445 NA 0.964 NA 2.015698 1458 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 1458 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 1458 9 119770551 119770551 G A intronic ASTN2 NA NA NA intronic ENSG00000148219 NA NA NA Score=352;Name=lod=36 NA 9q33.1 NA NA NA NA rs7036098 0.97 0.97 0.968 0.964856 0.997 0.999 0.9928 0.8737 1 1 1 0.99 0.89 0.9896 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.379659 1.379659 NA 0.99814 0.909669 NA 0.949 NA 2.01526 1458 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 1459 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 1459 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 1459 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 1459 10 62553763 62553763 A G UTR3 CDK1 NM_001786:c.*30A>G,NM_033379:c.*30A>G NA NA UTR3 ENSG00000170312 ENST00000316629:c.*30A>G,ENST00000395284:c.*30A>G,ENST00000448257:c.*30A>G,ENST00000373809:c.*30A>G NA NA NA NA 10q21.2 NA NA NA NA rs1871446 0.76 0.76 0.753 0.771366 0.7942 0.8423 0.7867 0.6762 0.7924 0.78 0.82 0.75 0.66 0.7779 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 -0.789576 NA NA 0.747145 0.704133 NA 0.754 NA 2.0140884 1459 2 136548192 136548192 G A intronic LCT NA NA NA intronic ENSG00000115850 NA NA NA NA NA 2q21.3 NA Name=TAL1_(SC-12984),GATA2_(CG2-96) NA NA rs1808756 0.97 0.97 0.955 0.959265 1 0.9831 0.9942 0.8933 0.9571 1 0.98 0.99 0.88 0.9862 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243518 NA NA 0.999767 0.909215 NA 0.928 NA 2.014033 1459 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 1459 5 172396394 172396394 C T intronic RPL26L1 NA NA NA intronic ENSG00000037241 NA NA NA NA NA 5q35.1 NA NA Name=10 NA rs505788 1 1 0.997 0.997005 0.995 1 0.9986 1 0.9908 0.99 1 1 1 0.9955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.331004 NA NA 0.995581 0.999773 NA 1 NA 2.013919 1459 15 74623302 74623302 T C intronic CCDC33 NA NA NA intronic ENSG00000140481 NA NA NA NA NA 15q24.1 NA NA NA NA rs2277606 0.5 0.5 0.49 0.472244 0.673 0.3621 0.402 0.4123 0.5102 0.68 0.34 0.47 0.42 0.6165 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 0.140321 NA NA 0.696733 0.446096 NA 0.42 NA 2.013767 1459 12 3702219 3702219 A G intronic PRMT8 NA NA NA intronic ENSG00000111218 NA NA NA NA NA 12p13.32 NA NA NA NA rs4765741 0.64 0.64 0.66 0.636981 0.6541 0.5665 0.7233 0.7648 0.4581 0.62 0.57 0.68 0.74 0.6552 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 0.955672 NA NA 0.677093 0.753518 NA 0.696 NA 2.013607 1459 15 42436599 42436599 T C intronic PLA2G4F NA NA NA intronic ENSG00000168907 NA NA NA NA NA 15q15.1 NA NA NA NA rs636535 0.65 0.65 0.647 0.615016 0.6839 0.381 0.5403 0.9327 0.409 0.7 0.37 0.59 0.93 0.6308 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 1.493017 1.493017 NA 0.671824 0.890604 NA 0.674 NA 2.013476 1459 3 53267133 53267133 G C intronic TKT NA NA NA intronic ENSG00000163931 NA NA NA NA NA 3p21.1 NA Name=Pol2-4H8 NA NA rs6445573 0.97 0.97 0.958 0.957867 0.999 1 0.9841 0.8495 1 1 1 1 0.85 0.9883 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.058155 NA NA 0.999302 0.881525 NA 0.942 NA 2.013398 1459 20 60885448 60885448 A G intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA Name=CTCF NA NA rs944897 0.97 0.97 0.978 0.973842 0.997 1 0.9899 0.9085 1 0.98 0.99 0.98 0.91 0.9911 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.653466 NA NA 0.998585 0.93207 NA 0.949 NA 2.013315 1459 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 1459 19 52032964 52032964 C G intronic SIGLEC6 NA NA NA intronic ENSG00000105492 NA NA NA NA NA 19q13.41 NA NA NA NA rs3976745 0.64 0.64 0.607 0.671326 0.6541 0.5605 0.7666 0.6467 0.7689 0.66 0.57 0.75 0.62 0.6718 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 -0.266055 NA NA 0.661665 0.670455 NA 0.659 NA 2.012435 1459 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 1459 20 49236478 49236478 G A intronic FAM65C NA NA NA intronic ENSG00000042062 NA NA NA NA NA 20q13.13 NA NA NA NA rs6122953 0.57 0.57 0.533 0.540335 0.6799 0.6766 0.6585 0.2163 0.6104 0.67 0.68 0.63 0.23 0.6331 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.890754 NA NA 0.674651 0.287789 NA 0.63 NA 2.012349 1459 2 15678482 15678482 T C intronic NBAS NA NA NA intronic ENSG00000151779 NA NA NA NA NA 2p24.3 NA NA NA NA rs2380657 0.49 0.49 0.478 0.502396 0.6889 0.1696 0.5994 0.5598 0.5072 0.67 0.19 0.59 0.5 0.6184 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.038004 NA NA 0.680995 0.590389 NA 0.667 NA 2.011705 1459 15 69747675 69747675 A T intronic RPLP1 NA NA NA intronic ENSG00000137818 NA NA NA NA NA 15q23 NA Name=p300,CTCF_(SC-5916) NA NA rs1463911 0.98 0.98 0.969 0.979832 0.998 0.999 0.9928 0.9312 0.998 1 1 0.99 0.93 0.9915 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556638 NA NA 0.998831 0.936979 NA 0.812 NA 2.011669 1459 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 1459 1 249110906 249110906 G C intronic SH3BP5L NA NA NA intronic ENSG00000175137 NA NA NA NA NA 1q44 NA NA NA NA rs4926508 0.48 0.48 0.419 0.426518 0.7078 0.3224 0.6427 0.1104 0.5184 0.72 0.36 0.63 0.13 0.5871 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.055131 NA NA 0.694419 0.196777 NA 0.464 NA 2.010681 1459 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 1459 13 96540141 96540141 T C intronic UGGT2 NA NA NA intronic ENSG00000102595 NA NA NA Score=550;Name=lod=229 NA 13q32.1 NA NA NA NA rs9525075 0.97 0.97 0.97 0.965455 0.999 1 0.987 0.8767 1 1 1 0.99 0.88 0.9911 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.849792 NA NA 0.999767 0.910576 NA NA NA 2.010133 1459 13 96540143 96540143 T C intronic UGGT2 NA NA NA intronic ENSG00000102595 NA NA NA Score=550;Name=lod=229 NA 13q32.1 NA NA NA NA rs9525076 0.97 0.97 0.97 0.965455 0.999 1 0.987 0.8767 1 1 1 0.99 0.88 0.9911 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.547427 NA NA 0.999767 0.910576 NA NA NA 2.010133 1459 4 39353122 39353122 C T intronic RFC1 NA NA NA intronic ENSG00000035928 NA NA NA NA NA 4p14 Score=868;Name=V$HNF3B_01 NA NA NA rs4975007 0.98 0.98 0.981 0.973243 1 1 0.9914 0.9032 1 1 1 0.99 0.9 0.9905 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.66511 NA NA 0.999417 0.928637 NA 0.964 NA 2.010083 1459 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 1459 5 176056529 176056529 A G intronic SNCB NA NA NA intronic ENSG00000074317 NA NA NA Score=544;Name=lod=217 NA 5q35.2 NA NA NA NA rs4868669 0.97 0.97 0.984 0.976637 0.999 1 0.9885 0.9183 1 1 1 0.98 0.9 0.9922 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.579325 NA NA 0.999884 0.913073 NA 0.688 NA 2.008916 1459 11 62563353 62563353 G A intronic NXF1 NA NA NA intronic ENSG00000162231 NA NA NA NA NA 11q12.3 NA NA Name=2 NA rs539465 0.98 0.98 0.981 0.975439 1 1 0.9957 0.9092 1 1 1 1 0.92 0.9918 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371473 NA NA 0.999418 0.911177 NA 0.986 NA 2.008782 1459 1 206648378 206648378 G A intronic IKBKE NA NA NA intronic ENSG00000143466 NA NA NA NA NA 1q32.1 NA NA NA NA rs1059704 0.52 0.52 0.523 0.508387 0.6809 0.3532 0.5879 0.357 0.6391 0.68 0.39 0.62 0.36 0.6223 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 0.574009 NA NA 0.68814 0.419882 NA 0.478 NA 2.00866 1459 17 46198876 46198876 G C UTR3 SNX11 NM_152244:c.*6G>C,NM_013323:c.*6G>C NA NA UTR3 ENSG00000002919 ENST00000452859:c.*6G>C,ENST00000580219:c.*6G>C,ENST00000393405:c.*6G>C,ENST00000439357:c.*6G>C,ENST00000581705:c.*577G>C,ENST00000359238:c.*6G>C,ENST00000582104:c.*6G>C NA NA NA NA 17q21.32 NA NA NA NA rs3744346 0.73 0.73 0.708 0.735623 0.7694 0.8085 0.8372 0.5446 0.8119 0.77 0.81 0.8 0.54 0.7723 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 1.310388 1.310388 NA 0.783023 0.577621 NA 0.797 NA 2.0086104 1459 13 38237872 38237872 A G intronic TRPC4 NA NA NA intronic ENSG00000133107 NA NA NA Score=457;Name=lod=96 NA 13q13.3 NA NA NA NA rs2985171 0.98 0.98 0.974 0.972644 0.999 1 0.9971 0.8986 1 1 1 1 0.91 0.9931 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.858069 1.858069 NA 0.999535 0.929187 NA 0.957 NA 2.008365 1459 16 85838532 85838532 A G intronic COX4I1 NA NA NA intronic ENSG00000131143 NA NA NA NA NA 16q24.1 NA Name=CTCF_(SC-5916) NA NA rs2733965 0.97 0.97 0.971 0.977037 1 1 0.9942 0.916 1 1 1 0.99 0.89 0.992 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.532843 NA NA 0.999767 0.91879 NA 0.971 NA 2.008233 1459 5 1225564 1225564 T C UTR5 SLC6A18 NM_182632:c.-29T>C NA NA UTR5 ENSG00000164363 ENST00000296821:c.-29T>C,ENST00000324642:c.-29T>C NA NA NA NA 5p15.33 NA NA NA NA rs7728646 0.74 0.74 0.72 0.732428 0.7873 0.5575 0.7522 0.7995 0.7515 0.79 0.59 0.76 0.82 0.7587 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 -0.710017 NA NA 0.77911 0.793864 NA 0.703 NA 2.0082234 1459 9 131588652 131588652 T C intronic C9orf114 NA NA NA intronic ENSG00000198917 NA NA NA NA NA 9q34.11 NA Name=CTCF,MafK_(ab50322) NA NA rs2997914 0.99 0.99 0.983 0.980631 1 1 0.9957 0.9289 1 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 0.773374 NA NA 0.999651 0.924648 NA 0.986 NA 2.007849 1459 14 106361561 106361561 G A intergenic ELK2AP,KIAA0125 dist=222417;dist=22277 NA NA ncRNA_intronic ENSG00000244620 NA NA NA NA NA 14q32.33 NA NA NA NA rs61993631 0.9 0.9 NA NA NA NA NA NA NA 0.89 0.93 0.94 0.87 0.9946 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.693972 NA NA 0.997593 0.949211 NA NA NA 2.007807 1459 4 148591769 148591769 G T intronic PRMT10 NA NA NA intronic ENSG00000164168,ENSG00000164169 NA NA NA NA NA 4q31.23 Score=901;Name=V$NKX22_01 NA NA NA rs2036502 0.98 0.98 0.982 0.979034 0.999 1 0.9971 0.9228 1 1 1 1 0.92 0.9939 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.743868 NA NA 0.999651 0.936223 NA 0.964 NA 2.007449 1459 11 118179197 118179197 A G intronic CD3E NA NA NA intronic ENSG00000198851 NA NA NA NA NA 11q23.3 NA NA NA NA rs1599810 0.63 0.63 0.601 0.619609 0.661 0.7312 0.7219 0.3631 0.7362 0.66 0.75 0.68 0.4 0.6628 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 0.920375 NA NA 0.668996 0.414351 NA 0.565 NA 2.007204 1459 1 22199081 22199081 A T intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA Name=CTCF NA NA rs2501266 0.99 0.99 0.99 0.979832 1 1 0.9942 0.9266 1 1 1 0.99 0.94 0.9936 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.675676 NA NA 0.999299 0.950138 NA 0.833 NA 2.007101 1459 9 72901096 72901096 T C intronic SMC5 NA NA NA intronic ENSG00000198887 NA NA NA NA NA 9q21.12 NA NA Name=12 NA rs1180123 0.99 0.99 0.972 0.978235 1 1 0.9957 0.9198 1 1 1 1 0.94 0.9933 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.313077 NA NA 0.999651 0.926431 NA 0.978 NA 2.007049 1459 11 865503 865503 G A intronic TSPAN4 NA NA NA intronic ENSG00000214063 NA NA NA NA NA 11p15.5 NA Name=Pol2-4H8,Pol2 NA NA rs28581489 0.98 0.98 0.976 0.973642 1 1 0.9899 0.9054 1 1 1 0.99 0.91 0.9932 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.294561 NA NA 0.999884 0.924194 NA 0.848 NA 2.006916 1459 15 25967085 25967085 T C intronic ATP10A NA NA NA intronic ENSG00000206190 NA NA NA NA NA 15q12 Score=943;Name=V$TCF11_01 NA NA NA rs1564828 0.99 0.99 0.985 0.983027 0.999 1 0.9942 0.944 0.9939 1 1 0.99 0.95 0.9943 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.97371 NA NA 0.999884 0.948933 NA 1 NA 2.006816 1459 9 74975711 74975711 T C intronic ZFAND5 NA NA NA intronic ENSG00000107372 NA NA NA Score=407;Name=lod=60 NA 9q21.13 NA NA NA NA rs1853276 0.99 0.99 0.988 0.979633 0.999 0.999 0.9942 0.9297 0.9969 1 1 0.99 0.95 0.9945 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.758704 NA NA 0.999884 0.948252 NA 0.993 NA 2.006616 1459 9 139652338 139652338 C G intronic LCN8 NA NA NA intronic ENSG00000204001 NA NA NA NA NA 9q34.3 NA NA NA NA rs9411272 0.59 0.59 0.594 0.54373 0.6909 0.7143 0.549 0.2995 0.5429 0.67 0.73 0.57 0.32 0.6225 0.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.079731 NA NA 0.680581 0.381298 NA 0.609 NA 2.006019 1459 6 47577064 47577064 G A intronic CD2AP NA NA NA intronic ENSG00000198087 NA NA NA NA NA 6p12.3 NA NA NA NA rs9395287 0.5 0.5 0.494 0.522564 0.6889 0.2808 0.4496 0.4955 0.6892 0.68 0.26 0.49 0.49 0.6173 0.69 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285585 NA NA 0.687791 0.52769 NA 0.623 NA 2.006009 1459 1 228613052 228613052 T C upstream HIST3H3 NA NA NA upstream ENSG00000168148 NA NA NA NA NA 1q42.13 NA Name=NF-YA,NF-YB NA NA rs1188474 0.85 0.85 0.852 0.866214 0.8907 0.6954 0.9568 0.9349 0.8599 0.89 0.67 0.94 0.91 0.8752 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.506754 NA NA 0.894903 0.924645 NA 0.913 NA 2.0058636 1459 7 142197835 142197835 C T intergenic LOC730441,MTRNR2L6 dist=225767;dist=176296 NA NA ncRNA_exonic ENSG00000241657 NA NA NA NA NA 7q34 Score=935;Name=V$LYF1_01 NA NA NA rs17280 0.98 0.98 0.976 0.977835 1 1 0.9957 0.9183 1 1 1 1 0.91 0.9944 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.652879 NA NA 0.999877 0.930373 NA 0.978 NA 2.005723 1459 5 37724990 37724990 G A intronic WDR70 NA NA NA intronic ENSG00000082068 NA NA NA NA NA 5p13.2 NA NA Name=67 NA rs7444391 0.99 0.99 0.989 0.982628 1 1 0.9928 0.938 1 1 1 0.99 0.95 0.9946 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.348652 NA NA 1 0.945075 NA 1 NA 2.0054 1459 11 31653956 31653956 C A intronic ELP4 NA NA NA intronic ENSG00000109911 NA NA NA Score=417;Name=lod=66 NA 11p13 NA NA NA NA rs4922872 0.99 0.99 0.984 0.982228 0.999 1 0.9899 0.9387 1 1 1 0.99 0.95 0.996 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.368045 NA NA 0.999636 0.959893 NA 0.978 NA 2.005364 1459 2 101967346 101967346 C T UTR3 CREG2 NM_153836:c.*39G>A NA NA UTR3 ENSG00000175874 ENST00000324768:c.*39G>A NA NA NA NA 2q11.2 NA NA NA NA rs6543032 0.68 0.68 0.653 0.666134 0.8082 0.7698 0.6527 0.3941 0.7904 0.81 0.77 0.66 0.38 0.7442 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 0.807881 NA NA 0.775581 0.440082 NA 0.703 NA 2.0053524 1459 3 123015094 123015094 G C intronic ADCY5 NA NA NA intronic ENSG00000173175 NA NA NA NA NA 3q21.1 NA Name=CTCF NA NA rs9882534 0.98 0.98 0.977 0.984026 0.999 1 0.9942 0.9433 1 1 1 0.99 0.93 0.9958 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057729 NA NA 0.999884 0.958466 NA 0.862 NA 2.005316 1459 2 138169158 138169158 T C intronic THSD7B NA NA NA intronic ENSG00000144229 NA NA NA NA NA 2q22.1 NA NA Name=4 NA rs1463285 0.98 0.98 0.979 0.979832 1 0.997 0.9957 0.9319 0.9949 1 1 1 0.91 0.9947 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196168 NA NA 1 0.955834 NA 0.964 NA 2.0053 1459 11 121445084 121445084 T C intronic SORL1 NA NA NA intronic ENSG00000137642 NA NA NA NA NA 11q24.1 NA NA Name=8 NA rs1792126 0.99 0.99 0.981 0.984824 1 1 0.9957 0.9448 1 1 1 1 0.95 0.9949 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.887201 NA NA 0.999884 0.940309 NA 0.949 NA 2.005216 1460 6 126319881 126319881 T A intronic TRMT11 NA NA NA intronic ENSG00000066651 NA NA NA NA NA 6q22.32 NA NA NA NA rs6569449 0.79 0.79 0.76 0.779752 0.6412 0.9563 0.781 0.7844 0.7331 0.66 0.95 0.76 0.83 0.7146 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 0.59287 NA NA 0.639302 0.796641 NA 0.754 NA 2.004898 1460 19 40224901 40224901 G A intronic CLC NA NA NA intronic ENSG00000105205 NA NA NA NA NA 19q13.2 NA NA NA NA rs453827 0.59 0.59 0.602 0.609225 0.6988 0.3383 0.513 0.7474 0.6779 0.68 0.36 0.53 0.77 0.6303 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 -0.945884 NA NA 0.666279 0.761689 NA 0.616 NA 2.004621 1460 4 173930479 173930479 A G intronic GALNTL6 NA NA NA intronic ENSG00000174473 NA NA NA NA NA 4q34.1 NA Name=GATA-2 NA NA rs4696042 0.99 0.99 0.988 0.987819 1 1 0.9957 0.9561 1 1 1 1 0.96 0.996 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.345989 NA NA 0.999651 0.954607 NA 0.971 NA 2.004349 1460 3 111659377 111659377 T C intronic PHLDB2 NA NA NA intronic ENSG00000144824 NA NA NA NA NA 3q13.2 Score=922;Name=V$NFAT_Q6 NA NA NA rs698358 0.99 0.99 0.991 0.990415 0.999 1 0.9986 0.966 0.999 1 1 1 0.97 0.997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.448255 1.448255 NA 0.999767 0.971844 NA 0.978 NA 2.004233 1460 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 1460 1 112020238 112020238 A C intronic C1orf162 NA NA NA intronic ENSG00000143110 NA NA NA NA NA 1p13.2 NA NA NA NA rs2211494 1 1 1 1 1 1 1 1 1 1 1 1 1 0.9961 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.173981 NA NA NA NA NA 0.964 NA 2.0039 1460 6 109863238 109863238 A C intronic AK9 NA NA NA intronic ENSG00000155085 NA NA NA NA NA 6q21 NA NA NA NA rs9386812 0.63 0.63 0.59 0.652356 0.6441 0.8472 0.7305 0.3238 0.8487 0.65 0.85 0.69 0.32 0.7136 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 0.295405 NA NA 0.638404 0.368302 NA 0.536 NA 2.003896 1460 8 144654586 144654586 G C intronic MROH6 NA NA NA intronic ENSG00000204839 NA NA NA NA NA 8q24.3 NA NA Name=5 NA rs4874155 0.99 0.99 0.979 0.99361 1 1 0.9986 0.9766 1 1 1 1 0.96 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 1.624445 1.624445 NA 1 0.978605 NA 0.971 NA 2.0038 1460 10 69647332 69647332 G T intronic SIRT1 NA NA NA intronic ENSG00000096717 NA NA NA NA NA 10q21.3 NA NA NA NA rs932657 0.98 0.98 0.991 0.990216 0.999 1 0.9957 0.966 1 0.99 1 0.99 0.95 0.9972 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.053733 NA NA NA NA NA 1 NA 2.0038 1460 16 8739954 8739954 G A intronic METTL22 NA NA NA intronic ENSG00000067365 NA NA NA NA NA 16p13.2 NA NA Name=8 NA rs1641070 0.99 0.99 0.993 0.985623 1 1 0.9928 0.9493 1 1 1 0.99 0.97 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 2.082304 2.082304 NA 1 0.958396 NA 1 NA 2.0038 1460 X 1585500 1585500 T C intronic P2RY8 NA NA NA intronic ENSG00000182162 NA NA NA NA NA Xp22.33 NA NA NA NA rs28371027 0.99 0.99 0.99205 NA NA NA NA NA NA 1 1 0.99 0.97 0.9967 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.484233 NA NA 0.999527 0.965867 NA 0.978 NA 2.003773 1460 17 71346353 71346353 A C intronic SDK2 NA NA NA intronic ENSG00000069188 NA NA NA NA NA 17q25.1 NA NA NA NA rs28397959 0.86 0.86 0.791 0.859026 0.999 0.8859 0.9366 0.5885 0.998 1 0.88 0.95 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 0.083574 NA NA 0.997315 0.66469 NA 0.341 NA 2.003685 1460 20 8678446 8678446 G A intronic PLCB1 NA NA NA intronic ENSG00000182621 NA NA NA NA NA 20p12.3 NA NA NA NA rs2295179 0.54 0.54 0.531 0.532947 0.6879 0.5417 0.4467 0.3132 0.7229 0.69 0.58 0.48 0.32 0.6253 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 0.078651 NA NA 0.68314 0.366092 NA 0.529 NA 2.00366 1460 11 86133784 86133784 C T UTR3 CCDC81 NM_021827:c.*27C>T,NM_001156474:c.*27C>T NA NA UTR3 ENSG00000149201 ENST00000278487:c.*27C>T,ENST00000354755:c.*27C>T,ENST00000445632:c.*27C>T,ENST00000528728:c.*27C>T NA NA NA NA 11q14.2 NA NA NA NA rs1056194 0.77 0.77 0.783 0.804113 0.7803 0.7619 0.7089 0.8359 0.8967 0.76 0.74 0.75 0.83 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 1.180563 NA NA 0.772622 0.795186 NA 0.812 NA 2.0036114 1460 19 40224887 40224887 T C intronic CLC NA NA NA intronic ENSG00000105205 NA NA NA NA NA 19q13.2 NA NA NA NA rs391660 0.59 0.59 0.614 0.609026 0.6988 0.3373 0.513 0.7474 0.6779 0.68 0.35 0.53 0.77 0.631 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 -0.600034 NA NA 0.666628 0.761689 NA 0.616 NA 2.003572 1460 1 109391486 109391486 G A intronic AKNAD1 NA NA NA intronic ENSG00000162641 NA NA NA NA NA 1p13.3 NA NA Name=5 NA rs1149142 0.99 0.99 0.986 0.988618 1 1 0.9971 0.9584 1 1 1 1 0.97 0.9967 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.32257 NA NA 0.999884 0.964107 NA 0.971 NA 2.003416 1460 12 22063737 22063737 G T intronic ABCC9 NA NA NA intronic ENSG00000069431 NA NA NA NA NA 12p12.1 NA NA Name=4 NA rs4762719 0.99 0.99 0.99 0.991613 1 1 0.9971 0.9697 1 1 1 0.99 0.98 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 0.062411 NA NA 0.999767 0.970041 NA 0.993 NA 2.003333 1460 11 48267589 48267589 A G downstream OR4X2 NA NA NA UTR3 ENSG00000172208 ENST00000302329:c.*22A>G NA NA NA NA 11p11.2 Score=834;Name=V$CDP_01 NA NA NA rs1503180 0.99 0.99 0.99 0.988618 1 1 0.9971 0.9584 1 1 1 1 0.96 0.997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233795 NA NA 0.999767 0.967288 NA 0.993 NA 2.003233 1460 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 1460 14 75485489 75485489 A G intronic MLH3 NA NA NA intronic ENSG00000119684 NA NA NA NA NA 14q24.3 NA NA Name=13 NA rs175053 0.99 0.99 0.998 0.990615 1 1 0.9928 0.9682 1 1 1 0.99 0.98 0.9968 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.745832 NA NA 1 0.96709 NA 0.993 NA 2.0032 1460 X 96197175 96197175 G A intronic DIAPH2 NA NA NA intronic ENSG00000147202 NA NA NA NA NA Xq21.33 NA NA NA NA rs5920973 1 1 0.99682 NA NA NA NA NA NA 1 1 1 0.99 0.9972 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.432817 NA NA 0.999851 0.974172 NA 0.732 NA 2.002949 1460 2 39090696 39090696 T C intronic DHX57 NA NA NA intronic ENSG00000163214 NA NA NA NA NA 2p22.1 NA NA Name=11 NA rs3099999 0.99 0.99 0.992 0.989417 1 1 0.9986 0.9607 1 1 1 1 0.98 0.9972 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.831815 NA NA 1 0.97231 NA 1 NA 2.0028 1460 2 220078496 220078496 T C intronic ABCB6 NA NA NA intronic ENSG00000115657,ENSG00000198925 NA NA NA NA NA 2q35 NA NA NA NA rs2139823 0.97 0.97 0.961 0.971046 0.999 1 0.9942 0.8941 1 1 1 0.99 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 3.264753 3.264753 NA 0.998995 0.928653 NA 0.993 NA 2.002005 1460 11 126146244 126146244 C T intronic FOXRED1 NA NA NA intronic ENSG00000110074 NA NA NA NA NA 11q24.2 NA NA NA NA rs56321210 1 1 0.93 1 1 1 1 1 1 1 1 1 1 0.9981 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.509561 NA NA NA NA NA 0.688 NA 2.0019 1460 11 71183474 71183474 C T intronic NADSYN1 NA NA NA intronic ENSG00000172890 NA NA NA NA NA 11q13.4 NA NA NA NA rs2282621 0.51 0.51 0.504 0.386981 0.7018 0.4395 0.4625 0.2405 0.1534 0.71 0.47 0.47 0.26 0.5547 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.433286 NA NA 0.741616 0.336136 NA 0.558 NA 2.001884 1460 11 71183477 71183477 C T intronic NADSYN1 NA NA NA intronic ENSG00000172890 NA NA NA NA NA 11q13.4 NA NA NA NA rs2282620 0.51 0.51 0.505 0.386981 0.7018 0.4395 0.4625 0.2405 0.1534 0.71 0.47 0.47 0.26 0.5547 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.02691 NA NA 0.741733 0.336136 NA 0.558 NA 2.001767 1460 18 77210902 77210902 C T intronic NFATC1 NA NA NA intronic ENSG00000131196 NA NA NA NA NA 18q23 NA NA NA NA rs680802 1 1 0.997 0.996006 0.999 1 0.9986 0.9864 1 1 1 1 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 -0.660257 NA NA 0.999247 0.985731 NA 0.993 NA 2.001753 1460 18 25573622 25573622 G C intronic CDH2 NA NA NA intronic ENSG00000170558 NA NA NA Score=676;Name=lod=748 NA 18q12.1 NA NA NA NA rs2957286 1 1 0.995 0.99401 1 1 1 0.9773 1 1 1 1 0.98 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 2.301864 2.301864 NA 0.999884 0.984113 NA 0.993 NA 2.001616 1460 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 1460 14 75412908 75412908 A G intronic PGF NA NA NA intronic ENSG00000119630 NA NA NA NA NA 14q24.3 NA NA Name=134 NA rs8005277 1 1 0.999 0.999601 0.999 1 1 0.9992 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 0.908574 NA NA 0.999535 1 NA 1 NA 2.001565 1460 15 66806308 66806308 C T intronic ZWILCH NA NA NA intronic ENSG00000174442,ENSG00000174444 NA NA NA NA NA 15q22.31 NA NA NA NA rs4238406 1 1 1 0.996805 1 0.9851 0.9986 1 1 1 0.99 1 1 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.518262 NA NA NA NA NA 1 NA 2.0014 1460 1 236746275 236746275 G C intronic HEATR1 NA NA NA intronic ENSG00000119285 NA NA NA NA NA 1q43 NA NA NA NA rs2794769 0.58 0.58 0.55 0.51857 0.6849 0.6518 0.5922 0.3003 0.453 0.68 0.65 0.59 0.33 0.6247 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 3.547268 3.547268 NA 0.68907 0.368134 NA 0.609 NA 2.00133 1460 12 53216184 53216184 A G intronic KRT79 NA NA NA intronic ENSG00000185640 NA NA NA NA NA 12q13.13 NA NA Name=19 NA rs4415849 1 1 1 0.9998 0.999 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 2.216375 2.216375 NA 0.999884 1 NA 1 NA 2.001216 1460 2 202712095 202712095 A C intronic CDK15 NA NA NA intronic ENSG00000138395 NA NA NA Score=634;Name=lod=504 NA 2q33.1 NA NA NA NA rs917958 1 1 1 0.997804 1 1 1 0.9917 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 3.496315 3.496315 NA 0.999884 0.988425 NA 1 NA 2.001116 1460 11 124739988 124739988 T C intronic ROBO3 NA NA NA intronic ENSG00000154134 NA NA NA NA NA 11q24.2 NA NA NA NA rs4936957 0.55 0.55 0.548 0.54353 0.6968 0.3909 0.4582 0.5749 0.5613 0.68 0.43 0.48 0.53 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 -1.122685 NA NA 0.693487 0.586722 NA 0.659 NA 2.001113 1460 11 47813436 47813436 C T intronic NUP160 NA NA NA intronic ENSG00000030066 NA NA NA NA NA 11p11.2 NA NA Name=7 NA rs10742821 1 1 0.997 0.994209 1 1 0.9986 0.9788 1 1 1 1 0.99 0.9989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033379 NA NA 1 0.987506 NA 0.993 NA 2.0011 1460 18 56202059 56202059 A G intronic ALPK2 NA NA NA intronic ENSG00000198796 NA NA NA NA NA 18q21.32 NA Name=Pol2-4H8,Pol2,POU2F2,YY1,Oct-2 NA NA rs10469211 1 1 0.994 0.99401 1 1 1 0.9773 1 1 1 1 0.98 0.9989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.057772 NA NA 1 0.988198 NA 0.993 NA 2.0011 1460 14 68935789 68935789 T C intronic RAD51B NA NA NA intronic ENSG00000182185 NA NA NA NA NA 14q24.1 NA Name=NRSF,p300,GATA-2,STAT1 NA NA rs2525505 1 1 0.995 0.996406 1 1 1 0.9864 1 1 1 1 0.99 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.612117 NA NA 0.999749 0.99258 NA 0.957 NA 2.000951 1460 1 201335899 201335899 C T intronic TNNT2 NA NA NA intronic ENSG00000118194 NA NA NA NA NA 1q32.1 NA NA NA NA rs1573230 0.99 0.99 0.985 0.98143 1 1 0.9971 0.9312 1 1 1 1 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 -0.362377 NA NA 0.999057 0.92341 NA 0.971 NA 2.000943 1460 9 139975108 139975108 T C intronic UAP1L1 NA NA NA intronic ENSG00000197355 NA NA NA NA NA 9q34.3 NA Name=TBP NA NA rs9314874 1 1 0.996 0.996605 1 0.999 1 0.9879 1 1 1 1 0.98 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.689221 NA NA 1 0.993633 NA 1 NA 2.0007 1460 19 54756302 54756302 A G intronic LILRB5 NA NA NA intronic ENSG00000105609 NA NA NA NA NA 19q13.42 NA NA NA NA rs415860 1 1 0.998 0.998203 1 0.9911 1 1 1 1 1 1 1 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.649679 NA NA NA NA NA 1 NA 2.0007 1460 13 103518769 103518769 T C intronic BIVM-ERCC5,ERCC5 NA NA NA intronic ENSG00000134899,ENSG00000270181 NA NA NA NA NA 13q33.1 NA Name=CTCF NA NA rs6491716 1 1 0.999 0.998203 1 1 1 0.9932 1 1 1 1 1 0.9994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.749122 NA NA 1 0.99251 NA 0.986 NA 2.0006 1460 11 66262806 66262806 T C intronic DPP3 NA NA NA intronic ENSG00000254986 NA NA NA NA NA 11q13.2 NA NA NA NA rs10791878 0.99 0.99 1 0.998602 1 0.9931 1 1 1 0.99 0.99 0.99 0.98 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 1.655589 1.655589 NA NA NA NA 1 NA 2.0005 1460 17 80696542 80696542 G A intronic FN3K NA NA NA intronic ENSG00000167363 NA NA NA NA NA 17q25.3 NA Name=GATA-1,TCF4 NA NA rs2253132 1 1 1 0.999002 1 1 1 0.9962 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 0.383654 NA NA 1 0.993645 NA 0.978 NA 2.0005 1460 8 100975002 100975002 A G intronic RGS22 NA NA NA intronic ENSG00000132554 NA NA NA NA NA 8q22.2 NA NA NA NA rs6468700 1 1 0.995 0.998203 1 0.9931 1 0.9985 1 1 0.99 1 1 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.335752 NA NA NA NA NA 0.993 NA 2.0003 1460 15 41483636 41483636 C T intronic EXD1 NA NA NA intronic ENSG00000178997 NA NA NA Score=278;Name=lod=18 NA 15q15.1 NA NA NA NA rs2412609 1 1 0.998 0.999002 1 1 1 0.9962 1 1 1 1 0.99 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.12439 NA NA 1 0.997276 NA 1 NA 2.0003 1460 15 67985931 67985931 T C intronic MAP2K5 NA NA NA intronic ENSG00000137764 NA NA NA Score=762;Name=lod=1662 NA 15q23 NA NA NA NA rs8034680 1 1 0.999 0.998802 1 1 1 0.9955 1 1 1 1 0.99 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.184484 3.184484 NA 1 0.996818 NA 0.993 NA 2.0003 1460 2 48734576 48734576 G A intronic PPP1R21 NA NA NA intronic ENSG00000162869 NA NA NA NA NA 2p16.3 NA NA NA NA rs6716341 0.9 0.9 1 1 1 1 1 1 1 0.89 0.92 0.94 0.86 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 0.310843 NA NA NA NA NA 1 NA 2.0001 1460 2 121713022 121713022 C G intronic GLI2 NA NA NA intronic ENSG00000074047 NA NA NA NA NA 2q14.2 NA NA NA NA rs6718382 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 -0.695876 NA NA NA NA NA 0.906 NA 2.0001 1460 3 52415865 52415865 A G intronic DNAH1 NA NA NA intronic ENSG00000114841 NA NA NA NA NA 3p21.1 NA NA NA NA rs770284 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 -0.609276 NA NA NA NA NA 0.978 NA 2.0001 1460 16 21030897 21030897 T C intronic DNAH3 NA NA NA intronic ENSG00000158486 NA NA NA NA NA 16p12.3 NA NA NA NA rs3095922 1 1 1 0.999401 1 0.997 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 -0.435112 NA NA NA NA NA 0.993 NA 2.0001 1460 1 154061855 154061855 T G intronic NUP210L NA NA NA intronic ENSG00000143552 NA NA NA NA NA 1q21.3 NA NA NA NA rs2066135 1 1 1 1 1 1 1 1 1 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 0.46926 NA NA NA NA NA 0.993 NA 2 1460 2 31609448 31609448 A C intronic XDH NA NA NA intronic ENSG00000158125 NA NA NA NA NA 2p23.1 NA NA NA NA rs477626 1 1 1 1 1 1 1 1 1 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 1.517418 1.517418 NA NA NA NA 1 NA 2 1460 2 32712875 32712875 A C intronic BIRC6 NA NA NA intronic ENSG00000115760 NA NA NA NA NA 2p22.3 NA NA NA NA rs2366891 1 1 1 1 1 1 1 1 1 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 2.287931 2.287931 NA NA NA NA 1 NA 2 1460 5 73163861 73163861 C T intronic ARHGEF28 NA NA NA intronic ENSG00000214944 NA NA NA NA NA 5q13.2 NA NA NA NA rs2931422 1 1 1 1 1 1 1 1 1 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 -0.76367 NA NA NA NA NA 0.986 NA 2 1460 5 122685801 122685801 G A intronic CEP120 NA NA NA intronic ENSG00000168944 NA NA NA NA NA 5q23.2 NA NA NA NA rs485847 1 1 1 1 1 1 1 1 1 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 0.50887 NA NA NA NA NA 1 NA 2 1460 6 80631539 80631539 T A intronic ELOVL4 NA NA NA intronic ENSG00000118402 NA NA NA NA NA 6q14.1 NA NA NA NA rs700483 1 1 1 1 1 1 1 1 1 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 1.043757 NA NA NA NA NA 0.993 NA 2 1460 8 143857265 143857265 G T intronic LYNX1 NA NA NA intronic ENSG00000180155 NA NA NA NA NA 8q24.3 NA NA NA NA rs2585125 0.96 0.96 0.959 0.953874 1 1 0.987 0.8321 1 1 1 0.98 0.85 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 -0.721094 NA NA 1 0.86922 NA 0.949 NA 2 1460 9 136234124 136234124 A G intronic SURF4 NA NA NA intronic ENSG00000148248 NA NA NA NA NA 9q34.2 NA NA NA NA rs1179033 1 1 1 1 1 1 1 1 1 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 0.523771 NA NA NA NA NA 1 NA 2 1460 10 118380511 118380511 A G intronic PNLIPRP2 NA NA NA intronic ENSG00000165862 NA NA NA NA NA 10q25.3 NA NA Name=6 NA rs3010502 1 1 1 1 1 1 1 1 1 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 0.835544 NA NA 1 0.999745 NA 1 NA 2 1460 12 6439255 6439255 A G intronic TNFRSF1A NA NA NA intronic ENSG00000067182 NA NA NA NA NA 12p13.31 NA NA NA NA rs10849443 1 1 1 1 1 1 1 1 1 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 0.813617 NA NA NA NA NA 1 NA 2 1460 12 21794865 21794865 A T intronic LDHB NA NA NA intronic ENSG00000111716 NA NA NA NA NA 12p12.1 NA NA NA NA rs1626023 1 1 1 0.999401 1 1 1 0.9977 1 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 0.857814 NA NA NA NA NA 1 NA 2 1460 12 66517828 66517828 T A intronic LLPH NA NA NA intronic ENSG00000139233,ENSG00000155957,ENSG00000228144 NA NA NA NA NA 12q14.3 NA NA NA NA rs2464304 1 1 1 1 1 1 1 1 1 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 0.135012 NA NA NA NA NA 1 NA 2 1460 16 50261735 50261735 C T intronic PAPD5 NA NA NA intronic ENSG00000121274 NA NA NA NA NA 16q12.1 NA Name=CEBPB NA NA rs4624170 1 1 1 0.999601 1 1 1 0.9985 1 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 0.619968 NA NA 1 0.999734 NA 1 NA 2 1460 17 8141707 8141707 T C intronic CTC1 NA NA NA intronic ENSG00000178971 NA NA NA NA NA 17p13.1 NA NA NA NA rs6503093 1 1 1 1 1 1 1 1 1 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 -0.701617 NA NA NA NA NA 1 NA 2 1460 19 55665584 55665584 A C intronic TNNI3 NA NA NA intronic ENSG00000129991 NA NA NA NA NA 19q13.42 NA NA NA NA rs7252610 1 1 1 1 1 1 1 1 1 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 0.07922 NA NA NA NA NA 1 NA 2 1460 20 24524245 24524245 A G intronic SYNDIG1 NA NA NA intronic ENSG00000101463 NA NA NA NA NA 20p11.21 NA NA NA NA rs4813519 1 1 1 1 1 1 1 1 1 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 0.843587 NA NA NA NA NA 1 NA 2 1460 21 45220787 45220787 A G intronic RRP1 NA NA NA intronic ENSG00000160214 NA NA NA NA NA 21q22.3 NA NA NA NA rs2329576 1 1 1 1 1 1 1 1 1 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 0.110936 NA NA NA NA NA 1 NA 2 1460 21 45514149 45514149 A G intronic TRAPPC10 NA NA NA intronic ENSG00000160218 NA NA NA NA NA 21q22.3 NA NA NA NA rs9941801 0.96 0.96 0.995 1 1 1 1 1 1 0.95 0.97 0.98 0.96 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 0.34329 NA NA NA NA NA 1 NA 2 1460 22 24944053 24944053 C T intronic GUCD1 NA NA NA intronic ENSG00000138867 NA NA NA NA NA 22q11.23 NA NA NA NA rs4822506 0.99 0.99 1 1 1 1 1 1 1 0.99 0.99 0.99 0.99 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 -1.122461 NA NA NA NA NA 1 NA 2 1460 11 1509238 1509238 T C intronic MOB2 NA NA NA intergenic ENSG00000182208,ENSG00000184545 dist=1262;dist=66036 NA NA NA NA 11p15.5 NA NA Name=10 NA rs2334554 0.94 0.94 0.954 0.940296 0.8797 0.998 0.8833 0.9939 0.911 0.89 1 0.85 0.99 0.9049 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.299762 NA NA 0.882102 0.974256 NA 0.957 NA 1.9999647 1460 19 56185250 56185250 G A intronic U2AF2 NA NA NA ncRNA_intronic ENSG00000267523 NA NA NA NA NA 19q13.42 NA NA NA NA rs664684 0.6 0.6 0.605 0.566294 0.7932 0.4583 0.7695 0.2678 0.7035 0.8 0.52 0.74 0.28 0.7297 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 0.714066 NA NA 0.810698 0.344984 NA 0.601 NA 1.9997353 1460 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 1460 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 1460 11 71174452 71174452 A G intronic NADSYN1 NA NA NA intronic ENSG00000172890 NA NA NA NA NA 11q13.4 NA NA NA NA rs2276362 0.51 0.51 0.508 0.394169 0.7008 0.38 0.4654 0.3139 0.1513 0.71 0.42 0.48 0.31 0.5562 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.66674 NA NA 0.744644 0.393182 NA 0.587 NA 1.998356 1460 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 1460 2 20845273 20845273 G A intronic HS1BP3 NA NA NA intronic ENSG00000118960 NA NA NA NA NA 2p24.1 NA NA NA NA rs2304423 0.7 0.7 0.689 0.746006 0.6551 0.7113 0.7291 0.7852 0.8344 0.65 0.7 0.7 0.8 0.6986 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 2.161447 2.161447 NA 0.649186 0.762143 NA 0.623 NA 1.997114 1460 1 160852022 160852022 C T intronic ITLN1 NA NA NA intronic ENSG00000179914 NA NA NA NA NA 1q23.3 NA NA NA NA rs2274909 0.6 0.6 0.567 0.567492 0.6779 0.6935 0.6931 0.2769 0.6278 0.68 0.72 0.66 0.31 0.6441 0.72 NA NA 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 0.68093 0.337948 NA 0.572 NA 1.99707 1460 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 1460 11 93844034 93844034 G T intronic HEPHL1 NA NA NA intronic ENSG00000181333 NA NA NA NA NA 11q21 NA NA NA NA rs7925817 0.65 0.65 0.644 0.60004 0.661 0.5397 0.7421 0.5983 0.501 0.66 0.61 0.71 0.64 0.6557 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.098997 NA NA 0.686478 0.608093 NA 0.739 NA 1.996822 1460 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 1460 16 72991286 72991286 C T intronic ZFHX3 NA NA NA intronic ENSG00000140836 NA NA NA NA NA 16q22.3 NA NA NA NA rs2157786 0.55 0.55 0.542 0.510583 0.6938 0.4484 0.5519 0.4433 0.4479 0.69 0.4 0.59 0.49 0.6244 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 0.691156 NA NA 0.686744 0.49909 NA 0.522 NA 1.995056 1461 17 53851071 53851071 A G intronic PCTP NA NA NA exonic ENSG00000141179 NA synonymous SNV ENSG00000141179:ENST00000417982:exon4:c.A194G:p.X65X NA NA 17q22 NA NA NA NA rs2960063 0.81 0.81 0.761 0.777955 0.9612 0.9405 0.8487 0.3691 0.9243 0.96 0.94 0.86 0.38 0.9078 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 0.45746 NA NA 0.969884 0.49251 NA 0.739 NA 1.9944493 1461 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 1461 11 46744925 46744925 G C intronic F2 NA NA NA intronic ENSG00000180210 NA NA NA NA NA 11p11.2 NA NA NA NA rs2070852 0.45 0.45 0.452 0.455272 0.7078 0.3026 0.5836 0.1263 0.7065 0.7 0.32 0.56 0.13 0.6026 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 -0.995809 NA NA 0.695976 0.230577 ID=COSM147179;OCCURENCE=1(stomach) 0.551 NA 1.993624 1461 7 151053043 151053043 A G intronic NUB1 NA NA NA intronic ENSG00000013374 NA NA NA NA NA 7q36.1 NA NA NA NA rs446886 0.7 0.7 0.671 0.641573 0.669 0.872 0.7089 0.475 0.5532 0.68 0.9 0.72 0.49 0.6701 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 -0.566342 NA NA 0.668806 0.511911 NA 0.594 NA 1.992094 1461 1 62365217 62365217 C T intronic INADL NA NA NA intronic ENSG00000132849 NA NA NA NA NA 1p31.3 NA NA NA NA rs1412622 0.55 0.55 0.536 0.558307 0.6869 0.4147 0.6499 0.4713 0.6268 0.68 0.38 0.65 0.47 0.6337 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 0.533424 NA NA 0.687674 0.495007 NA 0.572 NA 1.991726 1461 4 71255370 71255370 A T intronic SMR3B NA NA NA intronic ENSG00000171201 NA NA NA NA NA 4q13.3 NA NA NA NA rs7674958 0.68 0.68 0.673 0.674521 0.6779 0.5942 0.6974 0.7693 0.6094 0.68 0.62 0.68 0.77 0.6745 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 -0.736947 NA NA 0.65593 0.756468 NA 0.754 NA 1.99167 1461 7 127224193 127224193 A G intronic GCC1 NA NA NA intronic ENSG00000179562 NA NA NA NA NA 7q32.1 NA NA NA NA rs3735643 0.8 0.8 0.82 0.798522 0.671 0.9444 0.6066 0.9501 0.7106 0.68 0.94 0.62 0.93 0.7073 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 -1.136794 NA NA 0.630233 0.893327 NA 0.725 NA 1.991467 1461 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 1461 13 38138730 38138730 C T intronic POSTN NA NA NA intronic ENSG00000133110 NA NA NA NA NA 13q13.3 NA NA NA NA rs4390468 0.77 0.77 0.771 0.748802 0.675 0.8095 0.7507 0.8275 0.6544 0.69 0.88 0.74 0.82 0.6864 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 1.595896 1.595896 NA 0.648092 0.807762 NA 0.833 NA 1.990508 1461 13 110819586 110819586 G A intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs589985 0.65 0.65 0.633 0.655351 0.6779 0.6617 0.7622 0.5492 0.6933 0.65 0.68 0.75 0.54 0.6728 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 0.377772 NA NA 0.659186 0.56355 NA 0.732 NA 1.990114 1461 11 74085420 74085420 T G intronic PGM2L1 NA NA NA intronic ENSG00000165434 NA NA NA NA NA 11q13.4 NA NA NA NA rs35170680 0.61 0.61 0.55 0.600839 0.666 0.8046 0.6628 0.2723 0.7239 0.66 0.8 0.63 0.28 0.6687 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 -0.929894 NA NA 0.675402 0.360682 NA 0.536 NA 1.989898 1461 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 1461 4 5747078 5747078 A G intronic EVC NA NA NA intronic ENSG00000072840 NA NA NA NA NA 4p16.2 NA NA NA NA rs2286342 0.57 0.57 0.562 0.593051 0.6849 0.3532 0.549 0.7186 0.6074 0.69 0.3 0.57 0.7 0.6295 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.659448 NA NA 0.696047 0.708352 NA 0.681 NA 1.989553 1461 9 137299949 137299949 C A intronic RXRA NA NA NA intronic ENSG00000186350 NA NA NA NA NA 9q34.2 NA NA NA NA rs1805352 0.59 0.59 0.577 0.530152 0.7048 0.749 0.621 0.2655 0.4182 0.7 0.73 0.59 0.27 0.6295 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 0.29071 NA NA 0.676169 0.321607 NA 0.587 NA 1.989531 1461 16 12136954 12136954 A C intronic SNX29 NA NA NA intronic ENSG00000048471 NA NA NA NA NA 16p13.13 NA NA NA NA rs1703492 0.65 0.65 0.675 0.645567 0.6779 0.5427 0.5461 0.8631 0.4949 0.67 0.52 0.55 0.87 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 -0.2996 NA NA 0.695394 0.821347 NA 0.775 NA 1.989106 1461 12 94688232 94688232 C A intronic PLXNC1 NA NA NA intronic ENSG00000136040 NA NA NA NA NA 12q22 NA NA NA NA rs1880934 0.83 0.83 0.827 0.827676 0.6511 0.9633 0.7666 0.9856 0.6994 0.66 0.98 0.73 0.98 0.7243 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 4.477295 4.477295 NA 0.635641 0.926868 NA 0.739 NA 1.988959 1461 6 126288023 126288023 T C intronic HINT3 NA NA NA intronic ENSG00000111911 NA NA NA NA NA 6q22.32 NA NA NA NA rs3757212 0.79 0.79 0.778 0.779353 0.6451 0.9563 0.7853 0.7769 0.7342 0.66 0.95 0.77 0.82 0.7217 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 3.464723 3.464723 NA 0.644419 0.793463 NA 0.754 NA 1.988781 1461 14 21860360 21860360 G A ncRNA_exonic SNORD9 NA NA NA ncRNA_exonic ENSG00000199436 NA NA NA NA NA 14q11.2 NA NA NA NA rs1998332 0.81 0.81 0.813 0.798722 0.9056 0.8879 0.7781 0.5726 0.9172 0.9 0.9 0.83 0.58 0.8633 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 0.437068 NA NA 0.909091 0.639269 NA 0.783 NA 1.9886756 1461 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 1461 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 1461 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 1461 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 1461 3 39180162 39180162 A C intronic TTC21A NA NA NA intronic ENSG00000168026 NA NA NA NA NA 3p22.2 NA NA NA NA rs811969 0.57 0.57 0.511 0.553714 0.6799 0.7321 0.6614 0.1589 0.6973 0.69 0.72 0.64 0.17 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 0.563771 NA NA 0.677369 0.28575 NA 0.536 NA 1.986331 1461 3 13670837 13670837 T G intronic FBLN2 NA NA NA intronic ENSG00000163520 NA NA NA NA NA 3p25.1 NA NA NA NA rs4684969 0.8 0.8 0.767 0.800519 0.674 0.9931 0.8242 0.764 0.7648 0.67 0.99 0.81 0.77 0.6943 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 -0.111422 NA NA 0.645433 0.749263 NA 0.746 NA 1.986267 1461 11 34910433 34910433 A G intronic APIP NA NA NA intronic ENSG00000149089 NA NA NA NA NA 11p13 NA NA NA NA rs1977421 0.61 0.61 0.57 0.579473 0.6839 0.7371 0.5692 0.3533 0.6227 0.7 0.71 0.57 0.4 0.6435 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.304403 NA NA 0.686423 0.404589 NA 0.601 NA 1.986177 1461 1 165651502 165651502 G C intronic ALDH9A1 NA NA NA intronic ENSG00000143149 NA NA NA NA NA 1q24.1 NA NA NA NA rs1913844 0.74 0.74 0.703 0.746006 0.6362 0.9881 0.7723 0.6074 0.7781 0.62 0.99 0.75 0.61 0.7178 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 -0.004226 NA NA 0.660349 0.63005 NA 0.645 NA 1.985651 1461 10 71392495 71392495 T A intronic C10orf35 NA NA NA intronic ENSG00000171224 NA NA NA NA NA 10q22.1 NA NA NA NA rs2616089 0.72 0.72 0.701 0.709065 0.665 0.8909 0.7392 0.6006 0.6922 0.68 0.89 0.72 0.61 0.6885 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 0.80127 NA NA 0.661214 0.617579 NA 0.696 NA 1.985286 1461 3 126189919 126189919 A G intronic ZXDC NA NA NA intronic ENSG00000070476 NA NA NA NA NA 3q21.3 NA NA NA NA rs777499 0.59 0.59 0.554 0.590455 0.674 0.5734 0.5879 0.4274 0.7444 0.68 0.59 0.62 0.45 0.6565 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.039576 NA NA 0.684293 0.489509 NA 0.667 NA 1.985207 1462 12 6145529 6145529 G A intronic VWF NA NA NA intronic ENSG00000110799 NA NA NA NA NA 12p13.31 NA NA NA NA rs216325 0.74 0.74 0.739 0.753195 0.6521 0.7808 0.7507 0.795 0.774 0.65 0.78 0.73 0.82 0.7029 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 -0.837193 NA NA 0.66 0.769859 NA 0.826 NA 1.985 1462 11 47259668 47259668 T C intronic DDB2 NA NA NA intronic ENSG00000134574 NA NA NA NA NA 11p11.2 NA NA NA NA rs326222 0.5 0.5 0.508 0.467252 0.6978 0.2232 0.6383 0.3328 0.5419 0.69 0.26 0.6 0.41 0.6088 0.71 NA NA 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 0.708469 0.390959 NA 0.645 NA 1.984931 1462 21 38113998 38113998 C A intronic SIM2 NA NA NA intronic ENSG00000159263 NA NA NA NA NA 21q22.13 NA NA NA NA rs2070519 0.52 0.52 0.556 0.547125 0.6938 0.2163 0.4352 0.6558 0.6697 0.7 0.2 0.48 0.64 0.6143 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.211168 NA NA 0.707093 0.657739 NA 0.442 NA 1.984807 1462 10 71392501 71392501 G C intronic C10orf35 NA NA NA intronic ENSG00000171224 NA NA NA NA NA 10q22.1 NA NA NA NA rs2616088 0.72 0.72 0.703 0.709065 0.665 0.8909 0.7392 0.6006 0.6922 0.68 0.89 0.72 0.61 0.6892 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 0.154606 NA NA 0.661003 0.618644 NA 0.696 NA 1.984797 1462 7 142223797 142223797 C G intergenic LOC730441,MTRNR2L6 dist=251729;dist=150334 NA NA downstream ENSG00000211720 NA NA NA NA NA 7q34 NA NA Name=26 NA rs361469 0.83 0.83 0.816 0.800719 0.8241 0.9058 0.8919 0.6747 0.774 0.83 0.89 0.9 0.7 0.8369 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 0.429451 NA NA 0.855374 0.699387 NA 0.783 NA 1.983626 1462 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 1462 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 1462 11 66108660 66108660 C T intronic BRMS1 NA NA NA intronic ENSG00000174744 NA NA NA NA NA 11q13.2 NA NA NA NA rs947978 0.56 0.56 0.498 0.566893 0.66 0.5556 0.7363 0.2254 0.8241 0.66 0.57 0.73 0.24 0.6684 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 0.689139 NA NA 0.690221 0.295909 NA 0.616 NA 1.981379 1462 2 26454996 26454996 A G intronic HADHA NA NA NA intronic ENSG00000084754 NA NA NA NA NA 2p23.3 NA NA NA NA rs7593175 0.46 0.46 0.439 0.458067 0.7107 0.0347 0.487 0.4796 0.5849 0.71 0.04 0.55 0.49 0.596 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.782976 NA NA 0.711977 0.534044 NA 0.428 NA 1.981323 1462 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 1462 20 60913495 60913495 T C intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA NA NA NA rs2151512 0.56 0.56 0.558 0.50619 0.67 0.7331 0.6369 0.0477 0.6309 0.68 0.76 0.62 0.09 0.6534 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 -1.828189 NA NA 0.695576 0.169927 NA 0.42 NA 1.981024 1462 16 87748198 87748198 G C intronic KLHDC4 NA NA NA intronic ENSG00000104731 NA NA NA NA NA 16q24.2 NA NA NA NA rs2081981 0.57 0.57 0.553 0.576078 0.6928 0.4147 0.5893 0.5915 0.592 0.71 0.33 0.59 0.6 0.6354 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.51997 NA NA 0.691279 0.574386 NA 0.587 NA 1.980521 1462 1 204103618 204103618 G A intronic ETNK2 NA NA NA intronic ENSG00000143845 NA NA NA NA NA 1q32.1 NA NA NA NA rs2293335 0.52 0.52 0.496 0.49361 0.6889 0.5298 0.6715 0.1536 0.589 0.7 0.51 0.63 0.18 0.6372 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 -0.267434 NA NA 0.69407 0.249433 NA 0.572 NA 1.97983 1462 7 4304727 4304727 A G intronic SDK1 NA NA NA intronic ENSG00000146555 NA NA NA NA NA 7p22.2 NA NA NA NA rs10270413 0.7 0.7 0.731 0.692692 0.66 0.8919 0.6916 0.5567 0.7055 0.65 0.89 0.69 0.56 0.692 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 -0.375397 NA NA 0.66845 0.588636 NA 0.58 NA 1.97955 1462 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 1462 16 57786517 57786517 C T intronic KATNB1 NA NA NA intronic ENSG00000140854 NA NA NA NA NA 16q21 NA NA NA NA rs2965797 0.43 0.43 0.417 0.410543 0.6998 0.2629 0.4726 0.1641 0.5542 0.7 0.24 0.5 0.19 0.6078 0.71 NA NA 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 0.713415 0.259183 NA 0.464 NA 1.978985 1462 17 76554147 76554147 A G intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA NA NA rs4969171 0.68 0.68 0.675 0.655551 0.6948 0.6895 0.6859 0.6551 0.5593 0.7 0.72 0.65 0.64 0.6622 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.622063 NA NA 0.664651 0.652519 NA 0.601 NA 1.978349 1462 1 116224940 116224940 C A intronic VANGL1 NA NA NA intronic ENSG00000173218 NA NA NA NA NA 1p13.1 NA NA NA NA rs10754330 0.68 0.68 0.661 0.678315 0.6759 0.7202 0.7507 0.5325 0.7832 0.68 0.74 0.75 0.54 0.6803 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 -0.14807 NA NA 0.665698 0.573082 NA 0.71 NA 1.978102 1462 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 1462 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 1462 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 1462 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 1463 19 55396613 55396613 G A intronic FCAR NA NA NA intronic ENSG00000186431 NA NA NA NA NA 19q13.42 NA NA NA NA rs10402324 0.67 0.67 0.661 0.669129 0.6779 0.6379 0.5865 0.7534 0.637 0.68 0.65 0.6 0.72 0.6491 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.792698 NA NA 0.698256 0.709033 NA 0.659 NA 1.974744 1463 17 38953540 38953540 A G intronic KRT28 NA NA NA intronic ENSG00000173908 NA NA NA NA NA 17q21.2 NA NA NA NA rs3813038 0.67 0.67 0.688 0.698283 0.6968 0.4702 0.572 0.9266 0.7157 0.7 0.46 0.61 0.9 0.6621 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 0.395188 NA NA 0.666395 0.894462 NA 0.783 NA 1.974705 1463 2 201371768 201371768 G T UTR5 KCTD18 NM_152387:c.-29C>A NA NA UTR5 ENSG00000155729 ENST00000359878:c.-29C>A,ENST00000409157:c.-29C>A NA NA NA NA 2q33.1 NA NA NA NA rs3739116 0.78 0.78 0.807 0.756989 0.8022 0.8244 0.6772 0.8071 0.6299 0.79 0.82 0.7 0.79 0.7637 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 0.385685 NA NA 0.793372 0.805039 NA 0.855 NA 1.9740614 1463 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 1463 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 1463 11 30902893 30902893 T C intronic DCDC5 NA NA NA intronic ENSG00000170959 NA NA NA NA NA 11p14.1 NA NA NA NA rs273613 0.56 0.56 0.538 0.541134 0.6968 0.4534 0.6311 0.3691 0.6401 0.7 0.45 0.64 0.4 0.6384 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 0.260611 NA NA 0.695574 0.423649 NA 0.536 NA 1.969226 1463 19 1050874 1050874 A G intronic ABCA7 NA NA NA intronic ENSG00000064687 NA NA NA NA NA 19p13.3 NA NA NA NA rs12151021 0.62 0.62 0.597 0.63099 0.662 0.4911 0.7997 0.5772 0.6963 0.68 0.52 0.78 0.55 0.6893 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 -0.247116 NA NA 0.679613 0.603816 NA 0.529 NA 1.969087 1463 6 4052167 4052167 C A intronic PRPF4B NA NA NA intronic ENSG00000112739 NA NA NA NA NA 6p25.2 NA NA NA NA rs3747761 0.72 0.72 0.736 0.720647 0.6511 0.7887 0.7305 0.7413 0.6871 0.66 0.78 0.73 0.74 0.7055 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 0.314886 NA NA 0.676828 0.760185 NA 0.79 NA 1.966572 1463 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 1463 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 1463 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 1464 9 13125201 13125201 T C intronic MPDZ NA NA NA intronic ENSG00000107186 NA NA NA NA NA 9p23 NA NA NA NA rs2297003 0.58 0.58 0.549 0.556909 0.6859 0.5149 0.6556 0.3873 0.6268 0.7 0.56 0.64 0.39 0.6647 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 0.215229 NA NA 0.685315 0.466339 NA 0.58 NA 1.964085 1464 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 1464 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 1464 1 160849082 160849082 A G intronic ITLN1 NA NA NA intronic ENSG00000179914 NA NA NA NA NA 1q23.3 NA NA NA NA rs3820094 0.64 0.64 0.606 0.638778 0.6799 0.6974 0.719 0.475 0.7004 0.68 0.72 0.7 0.45 0.671 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.303981 NA NA 0.687209 0.500227 NA 0.623 NA 1.961891 1464 22 35679951 35679951 T C intronic HMGXB4 NA NA NA intronic ENSG00000100281 NA NA NA NA NA 22q12.3 NA NA NA NA rs2272789 0.58 0.58 0.536 0.553914 0.7078 0.6091 0.6182 0.3071 0.6268 0.69 0.6 0.62 0.34 0.6336 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 0.714635 NA NA 0.698488 0.352928 NA 0.543 NA 1.960112 1464 5 35713007 35713007 T G intronic SPEF2 NA NA NA ncRNA_intronic ENSG00000248969 NA NA NA NA NA 5p13.2 NA NA NA NA rs10073537 0.74 0.74 0.762 0.725439 0.8042 0.8016 0.7378 0.6437 0.6677 0.8 0.79 0.7 0.62 0.7738 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 1.601474 1.601474 NA 0.795287 0.670077 NA 0.601 NA 1.9600463 1464 3 137882377 137882377 G T intronic DBR1 NA NA NA intronic ENSG00000138231 NA NA NA NA NA 3q22.3 NA NA NA NA rs2622734 0.68 0.68 0.649 0.682109 0.6849 0.5456 0.7435 0.8139 0.5982 0.67 0.55 0.72 0.81 0.6683 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 0.700143 NA NA 0.687398 0.793553 NA 0.587 NA 1.959402 1464 8 17159812 17159812 G A intronic MTMR7 NA NA NA intronic ENSG00000003987 NA NA NA NA NA 8p22 NA NA NA NA rs6587028 0.77 0.77 0.762 0.767971 0.672 0.7669 0.7003 0.9024 0.7342 0.68 0.81 0.69 0.91 0.7053 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 0.309256 NA NA 0.66407 0.872901 NA 0.696 NA 1.95863 1464 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 1464 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 1464 8 11629119 11629119 T C intronic NEIL2 NA NA NA intronic ENSG00000154328 NA NA NA NA NA 8p23.1 NA NA NA NA rs804269 0.71 0.71 0.64 0.697883 0.6561 0.9752 0.755 0.4138 0.7986 0.67 0.98 0.74 0.44 0.7141 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 -0.208002 NA NA 0.672093 0.468679 NA 0.652 NA 1.957707 1464 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 1464 1 156785779 156785779 G A intronic NTRK1,SH2D2A NA NA NA intronic ENSG00000027869,ENSG00000198400 NA NA NA NA NA 1q23.1 NA NA NA NA rs1800600 0.68 0.68 0.681 0.662939 0.6958 0.8135 0.6744 0.534 0.6401 0.69 0.81 0.69 0.52 0.6705 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 -0.723897 NA NA 0.67686 0.569224 NA 0.638 NA 1.95684 1464 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 1464 17 67023755 67023755 A G intronic ABCA9 NA NA NA intronic ENSG00000154258 NA NA NA NA NA 17q24.2 NA NA NA NA rs6501947 0.6 0.6 0.572 0.613818 0.6849 0.3403 0.6398 0.7526 0.6166 0.68 0.34 0.64 0.76 0.6616 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 0.040533 NA NA 0.69686 0.743532 NA 0.667 NA 1.95664 1464 7 86983715 86983715 A G intronic CROT NA NA NA intronic ENSG00000005469 NA NA NA NA NA 7q21.12 NA NA NA NA rs7808249 0.69 0.69 0.693 0.674521 0.6909 0.7192 0.7738 0.5953 0.6483 0.7 0.75 0.74 0.58 0.6749 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 0.45902 NA NA 0.678302 0.60274 NA 0.681 NA 1.955898 1464 6 166827436 166827436 T C intronic RPS6KA2 NA NA NA intronic ENSG00000071242 NA NA NA NA NA 6q27 NA NA NA NA rs2235295 0.7 0.7 0.685 0.726637 0.665 0.7748 0.732 0.6384 0.8558 0.65 0.8 0.7 0.65 0.6984 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 -1.072552 NA NA 0.680814 0.626645 NA 0.681 NA 1.955786 1464 2 27280127 27280127 G A intronic AGBL5 NA NA NA intronic ENSG00000084693 NA NA NA NA NA 2p23.3 NA NA NA NA rs6721395 0.67 0.67 0.646 0.637979 0.6889 0.9345 0.5778 0.3427 0.7219 0.7 0.94 0.59 0.36 0.6662 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 0.394204 NA NA 0.689186 0.393781 NA 0.616 NA 1.955714 1464 14 77336428 77336428 G A intronic C14orf166B NA NA NA intronic ENSG00000100565 NA NA NA NA NA 14q24.3 NA NA NA NA rs11625243 0.54 0.54 0.506 0.540735 0.6889 0.5347 0.5144 0.2867 0.7566 0.68 0.52 0.59 0.3 0.6589 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 -0.042002 NA NA 0.696567 0.343862 NA 0.522 NA 1.955633 1464 7 31735263 31735263 G C intronic PPP1R17 NA NA NA intronic ENSG00000106341 NA NA NA NA NA 7p14.3 NA NA NA NA rs34173 0.81 0.81 0.831 0.776558 0.6759 0.8502 0.6744 0.9887 0.59 0.67 0.9 0.72 0.98 0.6987 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 0.116371 NA NA 0.670233 0.928053 NA 0.812 NA 1.955167 1464 11 111487106 111487106 C G intronic SIK2 NA NA NA intronic ENSG00000170145 NA NA NA NA NA 11q23.1 NA NA NA NA rs571462 0.65 0.65 0.622 0.638379 0.6581 0.9514 0.7205 0.2103 0.816 0.65 0.97 0.69 0.23 0.7019 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 0.414015 NA NA 0.684896 0.294412 NA 0.572 NA 1.955104 1465 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 1465 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 1465 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 1465 3 100086861 100086861 T C intronic TOMM70A NA NA NA intronic ENSG00000154174 NA NA NA NA NA 3q12.2 NA NA NA NA rs277640 0.8 0.8 0.839 0.796126 0.6769 0.9355 0.6282 0.9244 0.7209 0.68 0.93 0.69 0.92 0.7062 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 -0.454009 NA NA 0.663372 0.874943 NA 0.833 NA 1.953528 1465 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 1465 20 32000351 32000351 A G intronic SNTA1 NA NA NA intronic ENSG00000101400 NA NA NA NA NA 20q11.21 NA NA NA NA rs291694 0.67 0.67 0.649 0.6877 0.662 0.628 0.7709 0.6831 0.7229 0.64 0.64 0.75 0.7 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 0.466967 NA NA 0.689302 0.683159 NA 0.71 NA 1.953198 1465 17 6902179 6902179 G A ncRNA_intronic LOC100506713 NA NA NA ncRNA_intronic ENSG00000267047 NA NA NA NA NA 17p13.1 NA NA NA NA rs312470 0.79 0.79 0.794 0.79972 0.9264 0.874 0.6037 0.6331 0.9571 0.92 0.83 0.66 0.65 0.8592 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 0.846374 NA NA 0.928837 0.667499 NA 0.899 NA 1.9522296 1465 17 960221 960221 C G intronic ABR NA NA NA intronic ENSG00000159842 NA NA NA NA NA 17p13.3 NA NA NA NA rs2304959 0.73 0.73 0.709 0.721446 0.7107 0.8502 0.6902 0.6551 0.7117 0.71 0.85 0.65 0.68 0.6875 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 -1.054855 NA NA 0.651047 0.657059 NA 0.681 NA 1.950753 1465 18 71930758 71930758 G A intronic CYB5A NA NA NA intronic ENSG00000166347 NA NA NA NA NA 18q22.3 NA NA NA NA rs2032263 0.56 0.56 0.518 0.526358 0.7117 0.5268 0.6037 0.3124 0.5695 0.71 0.49 0.64 0.33 0.6325 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.960766 NA NA 0.705116 0.381082 NA 0.442 NA 1.950684 1465 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 1465 1 160850936 160850936 T C intronic ITLN1 NA NA NA intronic ENSG00000179914 NA NA NA NA NA 1q23.3 NA NA NA NA rs2236515 0.68 0.68 0.656 0.672324 0.6799 0.6974 0.7277 0.5968 0.7014 0.68 0.72 0.7 0.61 0.683 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.734964 NA NA 0.687326 0.610304 NA 0.645 NA 1.949774 1465 11 17533635 17533635 G A intronic USH1C NA NA NA intronic ENSG00000006611 NA NA NA NA NA 11p15.1 NA NA NA NA rs2190454 0.7 0.7 0.687 0.726837 0.6551 0.7083 0.7939 0.6944 0.816 0.67 0.73 0.76 0.67 0.7153 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 0.183145 NA NA 0.680294 0.689091 NA 0.616 NA 1.949306 1465 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 1465 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 1465 8 6735300 6735300 T A intronic DEFB1 NA NA NA ncRNA_intronic ENSG00000245857 NA NA NA NA NA 8p23.1 NA NA NA NA rs2293958 0.83 0.83 0.833 0.849441 0.7952 0.9028 0.7349 0.9123 0.8466 0.8 0.87 0.78 0.86 0.7961 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 -0.572434 NA NA 0.794767 0.879936 NA 0.833 NA 1.9472663 1465 17 29541437 29541437 T C intronic NF1 NA NA NA intronic ENSG00000196712 NA NA NA NA NA 17q11.2 NA NA NA NA rs2905876 0.52 0.52 0.416 0.474042 0.7167 0.5516 0.5216 0.093 0.6258 0.72 0.59 0.57 0.1 0.615 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.719712 NA NA 0.721627 0.241542 NA 0.333 NA 1.946673 1465 1 156752048 156752048 C G intronic PRCC NA NA NA intronic ENSG00000143294 NA NA NA NA NA 1q23.1 NA NA NA NA rs2274503 0.67 0.67 0.657 0.645767 0.7038 0.8145 0.6715 0.4629 0.6411 0.7 0.8 0.68 0.46 0.6717 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 0.922758 NA NA 0.678023 0.523604 NA 0.71 NA 1.946477 1465 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 1465 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 1466 1 86621992 86621992 C A intronic COL24A1 NA NA NA intronic ENSG00000171502 NA NA NA NA NA 1p22.3 NA NA NA NA rs1999747 0.61 0.61 0.557 0.550319 0.7018 0.5506 0.6686 0.4607 0.4315 0.7 0.59 0.64 0.46 0.645 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.940177 2.940177 NA 0.708303 0.49947 NA 0.529 NA 1.944897 1466 17 66524987 66524987 G A intronic PRKAR1A NA NA NA intronic ENSG00000108946 NA NA NA NA NA 17q24.2 NA NA NA NA rs2302230 0.79 0.79 0.811 0.804113 0.6799 0.8909 0.7666 0.9017 0.7372 0.68 0.91 0.73 0.88 0.7145 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 0.566037 NA NA 0.662093 0.86246 NA 0.732 NA 1.943507 1466 6 89913218 89913218 T A intronic GABRR1 NA NA NA intronic ENSG00000146276 NA NA NA NA NA 6q15 NA NA NA NA rs4445034 0.76 0.76 0.75 0.783746 0.673 0.9296 0.8069 0.7806 0.7352 0.66 0.92 0.75 0.74 0.7202 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 -0.725084 NA NA 0.663605 0.763958 NA 0.754 NA 1.943195 1466 1 158507184 158507184 A G intergenic OR10R2,OR6Y1 dist=56509;dist=9734 NA NA intergenic ENSG00000231434,ENSG00000197532 dist=11556;dist=9734 NA NA NA NA 1q23.1 NA NA NA NA rs2051068 0.52 0.52 0.504 0.484225 0.4751 0.5744 0.4006 0.5166 0.4162 0.49 0.61 0.4 0.54 0.4694 0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.751587 NA NA 0.446509 0.489726 NA 0.551 NA 1.9423244 1466 14 61643045 61643045 C A intergenic SLC38A6,TMEM30B dist=92594;dist=101044 NA NA intergenic ENSG00000139974,ENSG00000027075 dist=92594;dist=11232 NA NA NA NA 14q23.1 NA NA NA NA rs4902033 0.46 0.46 0.445 0.440895 0.4533 0.5149 0.5749 0.3313 0.4049 0.45 0.52 0.56 0.34 0.4674 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.454338 NA NA 0.470367 0.352169 NA 0.486 NA 1.9422664 1466 12 83358930 83358930 A G intronic TMTC2 NA NA NA intronic ENSG00000179104 NA NA NA NA NA 12q21.31 NA NA NA NA rs2403023 0.65 0.65 0.631 0.651957 0.6799 0.7966 0.7507 0.3343 0.8333 0.69 0.81 0.72 0.34 0.7064 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 -1.067421 NA NA 0.672017 0.399682 NA 0.551 NA 1.941683 1466 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 1466 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 1466 22 26194093 26194093 G A intronic MYO18B NA NA NA intronic ENSG00000133454 NA NA NA NA NA 22q12.1 NA NA NA NA rs738644 0.58 0.58 0.531 0.554912 0.6978 0.6647 0.6268 0.2602 0.6421 0.69 0.67 0.61 0.27 0.6559 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.298171 NA NA 0.705811 0.35075 NA 0.522 NA 1.940489 1466 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 1466 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 1466 1 111857154 111857154 T C intronic CHIA NA NA NA intronic ENSG00000134216 NA NA NA NA NA 1p13.2 NA NA NA NA rs2786152 0.61 0.61 0.653 0.655751 0.7097 0.4772 0.4236 0.7867 0.772 0.72 0.42 0.5 0.77 0.6539 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 0.113023 NA NA 0.697851 0.765439 NA 0.732 NA 1.938549 1466 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 1466 6 34949451 34949451 C T intronic ANKS1A NA NA NA intronic ENSG00000064999 NA NA NA NA NA 6p21.31 NA NA NA NA rs3817473 0.45 0.45 0.417 0.41234 0.7147 0.2728 0.6254 0.0477 0.5869 0.72 0.31 0.64 0.06 0.6288 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.231141 NA NA 0.718256 0.165002 ID=COSN167748;OCCURENCE=3(large_intestine),1(endometrium) 0.478 NA 1.938244 1466 3 151073033 151073033 T C intronic MED12L,P2RY12 NA NA NA intronic ENSG00000144893,ENSG00000169313 NA NA NA NA NA 3q25.1 NA NA NA NA rs7615865 0.78 0.78 0.776 0.833267 0.6421 0.8512 0.7968 0.9652 0.8589 0.64 0.83 0.79 0.96 0.7492 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 2.247082 2.247082 NA 0.670465 0.911257 NA 0.812 NA 1.938235 1466 11 2189185 2189185 G A intronic TH NA NA NA intronic ENSG00000180176 NA NA NA NA NA 11p15.5 NA NA NA NA rs4074905 0.69 0.69 0.695 0.705671 0.6769 0.9474 0.745 0.4115 0.8558 0.66 0.96 0.73 0.39 0.7195 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 -0.246102 NA NA 0.665813 0.478597 NA 0.703 NA 1.937787 1466 9 133936381 133936381 G A intronic LAMC3 NA NA NA intronic ENSG00000050555 NA NA NA NA NA 9q34.12 NA NA NA NA rs3824398 0.54 0.54 0.54 0.540935 0.7137 0.4752 0.5692 0.3835 0.6237 0.7 0.45 0.6 0.37 0.6482 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 0.62092 NA NA 0.700698 0.438493 NA 0.681 NA 1.937402 1466 1 111737183 111737183 C T intronic DENND2D NA NA NA intronic ENSG00000162777 NA NA NA NA NA 1p13.3 NA NA NA NA rs660173 0.72 0.72 0.709 0.767971 0.668 0.6597 0.8026 0.8457 0.8528 0.66 0.66 0.77 0.82 0.7169 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 0.257975 NA NA 0.678256 0.813663 NA 0.79 NA 1.936844 1466 1 100353675 100353675 G A intronic AGL NA NA NA intronic ENSG00000162688 NA NA NA NA NA 1p21.2 NA NA NA NA rs555929 0.68 0.68 0.675 0.68111 0.6889 0.7073 0.7075 0.5855 0.7566 0.69 0.7 0.73 0.61 0.6898 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 -0.192251 NA NA 0.684651 0.596686 NA 0.674 NA 1.936649 1466 3 134226159 134226159 C T intronic CEP63 NA NA NA intronic ENSG00000182923 NA NA NA NA NA 3q22.2 NA NA NA NA rs6766818 0.71 0.71 0.675 0.708666 0.6918 0.8313 0.7882 0.59 0.7035 0.7 0.82 0.75 0.57 0.7 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 0.451454 NA NA 0.672442 0.584884 NA 0.609 NA 1.935758 1466 5 177715291 177715291 G A intronic COL23A1 NA NA NA intronic ENSG00000050767 NA NA NA NA NA 5q35.3 NA NA NA NA rs890801 0.5 0.5 0.49 0.470847 0.7018 0.247 0.5893 0.4153 0.455 0.7 0.25 0.62 0.38 0.6233 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.041473 NA NA 0.73931 0.463795 NA 0.529 NA 1.93559 1467 18 8380473 8380473 T A intronic PTPRM NA NA NA intronic ENSG00000173482 NA NA NA NA NA 18p11.23 NA NA NA NA rs657374 0.7 0.7 0.692 0.703874 0.6789 0.7401 0.8012 0.7171 0.6053 0.67 0.72 0.77 0.67 0.6988 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 0.146846 NA NA 0.687326 0.71675 NA 0.797 NA 1.934974 1467 20 2380396 2380396 G A intronic TGM6 NA NA NA intronic ENSG00000166948 NA NA NA NA NA 20p13 NA NA NA NA rs2076404 0.61 0.61 0.573 0.574081 0.6948 0.6597 0.6268 0.3714 0.5982 0.69 0.64 0.63 0.42 0.6616 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.828532 3.828532 NA 0.708896 0.437443 NA 0.543 NA 1.934704 1467 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 1467 6 32290927 32290927 G T intronic C6orf10 NA NA NA intronic ENSG00000204296 NA NA NA NA NA 6p21.32 NA NA NA NA rs4279480 0.71 0.71 0.722 0.729233 0.666 0.7748 0.7118 0.6815 0.8241 0.68 0.77 0.71 0.7 0.7202 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 0.921184 NA NA 0.679587 0.683984 NA 0.739 NA 1.934213 1467 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 1467 1 201291066 201291066 C T intronic PKP1 NA NA NA intronic ENSG00000081277 NA NA NA NA NA 1q32.1 NA NA NA NA rs2071960 0.66 0.66 0.639 0.628594 0.7008 0.7599 0.7118 0.3759 0.7014 0.7 0.77 0.74 0.41 0.6768 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 -0.49497 NA NA 0.689767 0.439174 NA 0.674 NA 1.932633 1467 13 78192207 78192207 T C intronic SCEL NA NA NA intronic ENSG00000136155 NA NA NA NA NA 13q22.3 NA NA NA NA rs9574090 0.57 0.57 0.542 0.594649 0.6938 0.3274 0.6931 0.5613 0.7434 0.7 0.32 0.71 0.54 0.6681 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4.455421 4.455421 NA 0.70593 0.57921 ID=COSN164524;OCCURENCE=1(breast) 0.63 NA 1.93217 1467 7 142168662 142168662 C T intergenic LOC730441,MTRNR2L6 dist=196594;dist=205469 NA NA exonic ENSG00000230099 NA nonsynonymous SNV ENSG00000230099:ENST00000454561:exon2:c.G61A:p.A21T NA NA 7q34 NA NA NA NA rs73742240 0.85 0.85 0.488 0.961462 0.999 1 0.9885 0.8608 1 0.86 0.91 0.91 0.72 0.9894 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 1.142736 NA 0.26 0.912848 0.707629 NA NA NA 1.9320854 1467 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 1467 10 60558125 60558125 A T intronic BICC1 NA NA NA intronic ENSG00000122870 NA NA NA NA NA 10q21.1 NA NA NA NA rs2393503 0.64 0.64 0.584 0.615415 0.6759 0.7361 0.7277 0.4297 0.6002 0.69 0.74 0.69 0.41 0.6949 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.75997 1.75997 NA 0.697371 0.480018 NA 0.623 NA 1.931829 1467 21 34624917 34624917 A G intronic IFNAR2 NA NA NA intronic ENSG00000159110,ENSG00000249624 NA NA NA NA NA 21q22.11 NA NA NA NA rs2236757 0.63 0.63 0.656 0.625399 0.7058 0.4345 0.572 0.8071 0.5317 0.71 0.4 0.57 0.82 0.6513 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 0.557464 NA NA 0.711445 0.787693 NA 0.659 NA 1.931455 1467 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 1467 1 24485941 24485941 T C intronic IFNLR1 NA NA NA intronic ENSG00000185436 NA NA NA NA NA 1p36.11 NA NA NA NA rs4649195 0.6 0.6 0.588 0.593251 0.7157 0.5069 0.6427 0.4546 0.7086 0.72 0.52 0.67 0.45 0.6601 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.383412 NA NA 0.693256 0.479346 NA 0.457 NA 1.930944 1467 6 35423489 35423489 A G intronic FANCE NA NA NA intronic ENSG00000112039 NA NA NA NA NA 6p21.31 NA NA NA NA rs7757405 0.76 0.76 0.765 0.776558 0.6779 0.7123 0.817 0.888 0.7648 0.68 0.71 0.83 0.87 0.7201 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 2.446869 2.446869 NA 0.671279 0.856786 NA 0.703 NA 1.930721 1467 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 1467 6 32291359 32291359 T G intronic C6orf10 NA NA NA intronic ENSG00000204296 NA NA NA NA NA 6p21.32 NA NA NA NA rs4348357 0.71 0.71 0.729 0.729233 0.666 0.7748 0.7118 0.6815 0.8241 0.68 0.77 0.71 0.7 0.7243 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 0.697587 NA NA 0.679587 0.683984 NA 0.746 NA 1.930113 1467 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 1467 1 156532908 156532908 C A intronic IQGAP3 NA NA NA intronic ENSG00000183856 NA NA NA NA NA 1q23.1 NA NA NA NA rs16837492 0.63 0.63 0.616 0.558107 0.7127 0.4603 0.6254 0.5809 0.4213 0.73 0.5 0.64 0.6 0.6482 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 0.20129 NA NA 0.709651 0.605538 NA 0.543 NA 1.929449 1467 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 1467 3 49137904 49137904 G T intronic QARS NA NA NA intronic ENSG00000172053 NA NA NA NA NA 3p21.31 NA NA NA NA rs4521268 0.73 0.73 0.708 0.757987 0.6799 0.9454 0.768 0.5507 0.9182 0.68 0.93 0.77 0.56 0.7304 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 -1.638024 NA NA 0.661047 0.581253 NA 0.63 NA 1.928653 1467 1 236755427 236755427 A G intronic HEATR1 NA NA NA intronic ENSG00000119285 NA NA NA NA NA 1q43 NA NA NA NA rs2794759 0.61 0.61 0.6 0.559505 0.6998 0.7242 0.6009 0.329 0.5276 0.69 0.73 0.6 0.36 0.6565 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 0.361708 NA NA 0.715116 0.391867 NA 0.623 NA 1.928584 1467 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 1467 10 69935059 69935059 A G intronic MYPN NA NA NA intronic ENSG00000138347 NA NA NA NA NA 10q21.3 NA NA NA NA rs7097776 0.56 0.56 0.526 0.547524 0.7097 0.3294 0.7133 0.4955 0.5583 0.71 0.34 0.68 0.5 0.652 0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.426139 1.426139 NA 0.710349 0.52769 NA 0.543 NA 1.927951 1467 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 1467 14 68039027 68039027 A G intronic PLEKHH1 NA NA NA intronic ENSG00000054690 NA NA NA NA NA 14q24.1 NA NA NA NA rs2236231 0.56 0.56 0.532 0.533347 0.7177 0.4692 0.5317 0.4228 0.5603 0.73 0.49 0.5 0.42 0.6515 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 -0.253006 NA NA 0.702945 0.478455 NA 0.065 NA 1.927855 1467 12 124968349 124968349 T C intronic NCOR2 NA NA NA intronic ENSG00000196498 NA NA NA NA NA 12q24.31 NA NA NA NA rs747443 0.58 0.58 0.557 0.547724 0.7177 0.5476 0.5951 0.3502 0.6063 0.74 0.54 0.61 0.37 0.6608 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504788 NA NA 0.693682 0.437799 NA 0.486 NA 1.927818 1467 4 130023759 130023759 A T UTR5 C4orf33 NM_173487:c.-7A>T,NM_001099783:c.-7A>T NA NA UTR5 ENSG00000151470 ENST00000281146:c.-7A>T,ENST00000502887:c.-7A>T,ENST00000425929:c.-7A>T,ENST00000508673:c.-7A>T,ENST00000508622:c.-7A>T NA NA NA NA 4q28.2 NA NA NA NA rs1757935 0.7 0.7 0.671 0.682708 0.8072 0.7242 0.7305 0.3585 0.9162 0.82 0.78 0.73 0.4 0.7822 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 0.232407 NA NA 0.816279 0.434635 NA 0.558 NA 1.9276544 1467 9 127561559 127561559 C T intronic OLFML2A NA NA NA intronic ENSG00000185585 NA NA NA NA NA 9q33.3 NA NA NA NA rs2281923 0.64 0.64 0.612 0.652955 0.671 0.6597 0.7738 0.4652 0.7955 0.68 0.68 0.76 0.46 0.7004 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 0.27711 NA NA 0.701792 0.509728 NA 0.63 NA 1.926808 1467 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 1467 1 113239478 113239478 T C intronic MOV10 NA NA NA intronic ENSG00000155363 NA NA NA NA NA 1p13.2 NA NA NA NA rs2999158 0.78 0.78 0.771 0.80631 0.666 0.8442 0.8458 0.8767 0.7883 0.67 0.85 0.81 0.85 0.7382 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 0.59855 NA NA 0.669541 0.845314 NA 0.797 NA 1.926259 1467 3 193096529 193096529 C T upstream ATP13A5 NA NA NA UTR5 ENSG00000187527 ENST00000342358:c.-15G>A,ENST00000446087:c.-15G>A NA NA NA NA 3q29 NA NA NA NA rs4687419 0.7 0.7 0.687 0.670327 0.7087 0.755 0.6772 0.5961 0.6391 0.71 0.78 0.69 0.59 0.6822 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 -0.461443 NA NA 0.683953 0.606673 NA 0.688 NA 1.925147 1467 12 4768354 4768354 A C intronic NDUFA9 NA NA NA intronic ENSG00000139180 NA NA NA NA NA 12p13.32 NA NA NA NA rs7972657 0.7 0.7 0.694 0.70607 0.673 0.7956 0.755 0.5431 0.8333 0.69 0.82 0.74 0.54 0.7186 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 0.728724 NA NA 0.683256 0.537012 NA 0.667 NA 1.925144 1468 20 6064839 6064839 T C intronic FERMT1 NA NA NA intronic ENSG00000101311 NA NA NA NA NA 20p12.3 NA NA NA NA rs2232077 0.75 0.75 0.746 0.760783 0.6859 0.8442 0.7305 0.73 0.8149 0.67 0.86 0.78 0.73 0.7141 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 0.539642 NA NA 0.675349 0.736042 NA 0.674 NA 1.924651 1468 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 1468 7 149500472 149500472 A G intronic SSPO NA NA NA ncRNA_intronic ENSG00000197558 NA NA NA NA NA 7q36.1 NA NA NA NA rs10952229 0.84 0.84 0.805 0.846246 0.7813 0.8661 0.8646 0.7837 0.9642 0.79 0.89 0.87 0.81 0.8362 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 -1.638853 NA NA 0.792984 0.803545 NA 0.783 NA 1.9228493 1468 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 1468 5 176522728 176522728 C T intronic FGFR4 NA NA NA intronic ENSG00000160867 NA NA NA NA NA 5q35.2 NA NA NA NA rs42409 0.7 0.7 0.662 0.701877 0.663 0.9742 0.7637 0.3722 0.863 0.65 0.98 0.77 0.39 0.728 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 -0.710731 NA NA 0.686512 0.426464 NA 0.717 NA 1.922488 1468 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 1468 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 1468 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 1468 21 47635713 47635713 G A intronic LSS NA NA NA intronic ENSG00000160285 NA NA NA NA NA 21q22.3 NA NA NA NA rs11701729 0.52 0.52 0.478 0.530551 0.7167 0.4494 0.647 0.2284 0.7485 0.7 0.4 0.68 0.25 0.6627 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 0.634645 NA NA 0.702489 0.273264 NA 0.449 NA 1.918111 1468 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 1468 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 1468 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 1468 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 1468 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 1469 10 3167465 3167465 A G intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs3816703 0.71 0.71 0.701 0.686302 0.6948 0.7312 0.6427 0.6309 0.7372 0.72 0.75 0.7 0.64 0.6933 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 -0.923204 NA NA 0.696985 0.635274 NA 0.514 NA 1.914915 1469 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 1469 3 33444286 33444286 T G intronic UBP1 NA NA NA intronic ENSG00000153560 NA NA NA NA NA 3p22.3 NA NA NA NA rs623244 0.56 0.56 0.57 0.53135 0.6859 0.3919 0.4438 0.4992 0.6217 0.67 0.46 0.5 0.53 0.6811 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.949165 NA NA 0.718488 0.494553 NA 0.536 NA 1.914512 1469 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 1469 6 37620129 37620129 G A intronic MDGA1 NA NA NA intronic ENSG00000112139 NA NA NA NA NA 6p21.2 NA NA NA NA rs2273109 0.68 0.68 0.623 0.690895 0.6829 0.8343 0.745 0.4766 0.8027 0.7 0.82 0.71 0.46 0.726 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 0.906802 NA NA 0.677638 0.527525 NA 0.645 NA 1.913462 1469 8 30609078 30609078 A T intronic UBXN8 NA NA NA ncRNA_intronic ENSG00000104691 NA NA NA NA NA 8p12 NA NA NA NA rs2911688 0.74 0.74 0.725 0.687101 0.83 0.8492 0.745 0.447 0.6564 0.84 0.84 0.76 0.46 0.766 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 0.751912 NA NA 0.824963 0.517309 NA 0.667 NA 1.9123703 1469 19 17424932 17424932 A G intronic DDA1 NA NA NA intronic ENSG00000130311 NA NA NA NA NA 19p13.11 NA NA NA NA rs2288463 0.58 0.58 0.588 0.603834 0.7217 0.2907 0.4827 0.8116 0.6104 0.73 0.23 0.52 0.79 0.6592 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 -0.044417 NA NA 0.70686 0.807762 NA 0.688 NA 1.91224 1469 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 1469 1 222826481 222826481 G A intronic MIA3 NA NA NA intronic ENSG00000154305 NA NA NA NA NA 1q41 NA NA NA NA rs2291832 0.54 0.54 0.5 0.484824 0.7376 0.5813 0.5086 0.1596 0.5481 0.73 0.59 0.56 0.15 0.6335 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 -1.959942 NA NA 0.717274 0.257182 ID=COSM146782;OCCURENCE=1(stomach) 0.558 NA 1.911626 1469 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 1469 16 76528976 76528976 T C intronic CNTNAP4 NA NA NA intronic ENSG00000152910 NA NA NA NA NA 16q23.1 NA NA NA NA rs4268783 0.66 0.66 0.671 0.636581 0.7316 0.7619 0.5461 0.5204 0.6309 0.72 0.78 0.57 0.52 0.6571 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 0.14164 NA NA 0.700163 0.538899 ID=COSN165262;OCCURENCE=1(breast) 0.761 NA 1.911137 1469 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 1469 5 150948537 150948537 T C upstream FAT2 NA NA NA upstream ENSG00000086570 NA NA NA NA NA 5q33.1 NA Name=ERalpha_a NA NA rs1469680 0.87 0.87 0.882 0.86901 0.9384 0.7857 0.7752 0.8964 0.9131 0.93 0.78 0.8 0.92 0.8851 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 1.585779 1.585779 NA 0.932209 0.907853 NA 0.877 NA 1.9109576 1469 1 236724504 236724504 G A intronic HEATR1 NA NA NA intronic ENSG00000119285 NA NA NA NA NA 1q43 NA NA NA NA rs1077439 0.62 0.62 0.594 0.578874 0.7078 0.6538 0.621 0.4501 0.5133 0.7 0.66 0.63 0.46 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 3.175867 3.175867 NA 0.718256 0.496596 NA 0.659 NA 1.910544 1469 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 1469 9 131587240 131587240 G A intronic C9orf114 NA NA NA intronic ENSG00000198917 NA NA NA NA NA 9q34.11 NA NA NA NA rs2293968 0.59 0.59 0.54 0.523163 0.7058 0.6399 0.7435 0.1831 0.5184 0.75 0.64 0.72 0.22 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 1.807839 1.807839 NA 0.709302 0.267711 NA 0.543 NA 1.908998 1469 6 35478612 35478612 G A intronic TULP1 NA NA NA intronic ENSG00000112041 NA NA NA NA NA 6p21.31 NA NA NA NA rs2273001 0.67 0.67 0.676 0.654752 0.6988 0.7431 0.6614 0.5219 0.6933 0.72 0.74 0.68 0.51 0.6891 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.037156 NA NA 0.705116 0.522696 NA 0.565 NA 1.906984 1469 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 1469 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 1469 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 1469 22 35478486 35478486 A C intronic ISX NA NA NA intronic ENSG00000175329 NA NA NA NA NA 22q12.3 NA NA NA NA rs2899241 0.65 0.65 0.647 0.645567 0.7038 0.3601 0.7608 0.8676 0.498 0.69 0.35 0.73 0.87 0.6736 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 1.951816 1.951816 NA 0.717093 0.860418 NA 0.841 NA 1.905507 1470 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 1470 8 30609061 30609061 T G intronic UBXN8 NA NA NA ncRNA_intronic ENSG00000104691 NA NA NA NA NA 8p12 NA NA NA NA rs2911689 0.74 0.74 0.717 0.688099 0.83 0.8482 0.7464 0.4463 0.6626 0.84 0.84 0.76 0.47 0.7741 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 -0.045205 NA NA 0.825252 0.517001 NA 0.667 NA 1.9039813 1470 20 60902883 60902883 C T intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA NA NA NA rs4925375 0.74 0.74 0.722 0.712859 0.6769 0.874 0.7882 0.6172 0.6595 0.69 0.9 0.76 0.6 0.7191 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 -0.666102 NA NA 0.700676 0.597039 NA 0.638 NA 1.903324 1470 19 15226611 15226611 C A intronic ILVBL NA NA NA intronic ENSG00000105135 NA NA NA NA NA 19p13.12 NA NA NA NA rs2074261 0.66 0.66 0.667 0.630591 0.7137 0.5417 0.6427 0.7254 0.5 0.71 0.55 0.67 0.71 0.6649 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.444844 NA NA 0.71814 0.702905 NA 0.681 NA 1.90326 1470 13 28537242 28537242 A C UTR3 CDX2 NM_001265:c.*10T>G NA NA UTR3 ENSG00000165556 ENST00000381020:c.*10T>G NA NA NA NA 13q12.2 NA NA NA NA rs1805108 0.73 0.73 0.699 0.726238 0.8151 0.8155 0.7305 0.4584 0.9018 0.8 0.82 0.76 0.47 0.8024 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 -0.617384 NA NA 0.813953 0.500227 NA 0.688 NA 1.9018804 1470 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 1470 5 102363858 102363858 C T intronic PAM NA NA NA intronic ENSG00000145730 NA NA NA NA NA 5q21.1 NA NA NA NA rs26433 0.63 0.63 0.608 0.658347 0.7097 0.5506 0.7522 0.5045 0.8579 0.7 0.56 0.72 0.53 0.7018 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.6155 1.6155 NA 0.687326 0.528143 NA 0.572 NA 1.901174 1470 16 50827601 50827601 A G intronic CYLD NA NA NA ncRNA_intronic ENSG00000260616 NA NA NA NA NA 16q12.1 NA NA NA NA rs2302759 0.82 0.82 0.85 0.798323 0.827 0.7034 0.7795 0.9826 0.6309 0.82 0.74 0.75 0.97 0.7863 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 -0.60778 NA NA 0.81905 0.959826 ID=COSN165198;OCCURENCE=1(breast),1(lung) 0.92 NA 1.9009833 1470 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 1470 9 123152099 123152099 C G intronic CDK5RAP2 NA NA NA intronic ENSG00000136861 NA NA NA NA NA 9q33.2 NA NA NA NA rs2297457 0.75 0.75 0.725 0.734225 0.7048 0.8145 0.7781 0.7231 0.6656 0.72 0.81 0.77 0.71 0.7126 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 -1.019333 NA NA 0.682209 0.727644 NA 0.732 NA 1.900391 1470 9 139906513 139906513 T C intronic ABCA2 NA NA NA intronic ENSG00000107331 NA NA NA NA NA 9q34.3 NA NA NA NA rs2271863 0.7 0.7 0.683 0.714457 0.6869 0.8155 0.5548 0.7042 0.7658 0.68 0.82 0.57 0.67 0.6993 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 -1.138702 NA NA 0.715707 0.714386 NA 0.217 NA 1.898093 1470 1 39766055 39766055 C T intronic MACF1 NA NA NA intronic ENSG00000127603 NA NA NA NA NA 1p34.3 NA NA NA NA rs2275186 0.6 0.6 0.557 0.598842 0.7187 0.6696 0.6671 0.2693 0.7996 0.74 0.67 0.67 0.26 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 -0.336746 NA NA 0.691977 0.354517 NA 0.572 NA 1.897623 1470 3 197557635 197557635 C T intronic LRCH3 NA NA NA ncRNA_exonic ENSG00000234136 NA NA NA NA NA 3q29 NA NA NA NA rs501101 0.77 0.77 0.746 0.763978 0.8171 0.9276 0.8156 0.5371 0.8108 0.83 0.92 0.8 0.47 0.8064 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 -0.678882 NA NA 0.812442 0.560372 NA 0.79 NA 1.8973913 1470 6 29910820 29910820 G C intronic HLA-A NA NA NA ncRNA_exonic ENSG00000227766 NA NA NA NA NA 6p22.1 NA NA NA NA rs9260142 0.77 0.77 0.666 0.854832 0.8171 0.9683 0.8559 0.7352 0.9376 0.75 0.91 0.78 0.64 0.8342 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 0.729356 NA NA 0.785631 0.684464 NA 0.225 NA 1.8964023 1470 8 144776713 144776713 A C UTR3 ZNF707 NM_001100598:c.*13A>C,NM_001100599:c.*13A>C,NM_173831:c.*13A>C NA NA UTR3 ENSG00000181135 ENST00000454097:c.*13A>C,ENST00000533031:c.*994A>C,ENST00000358656:c.*13A>C,ENST00000532158:c.*13A>C,ENST00000532205:c.*13A>C,ENST00000418203:c.*13A>C NA NA NA NA 8q24.3 NA NA NA NA rs7464270 0.58 0.58 0.579 0.547923 0.8449 0.2282 0.6326 0.4977 0.5798 0.85 0.23 0.69 0.49 0.7268 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 -0.28424 NA NA 0.865257 0.551109 NA 0.652 NA 1.8963764 1470 19 35556744 35556744 T C ncRNA_intronic HPN-AS1 NA NA NA ncRNA_intronic ENSG00000227392 NA NA NA NA NA 19q13.12 NA NA NA NA rs1688030 0.88 0.88 0.856 0.823482 0.9384 0.8274 0.9438 0.7882 0.6636 0.94 0.84 0.94 0.77 0.8941 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 0.897767 NA NA 0.937907 0.808443 NA 0.87 NA 1.8962596 1470 5 82940510 82940510 T C intronic HAPLN1 NA NA NA intronic ENSG00000145681 NA NA NA NA NA 5q14.3 NA NA NA NA rs1457081 0.73 0.73 0.734 0.738419 0.7187 0.5813 0.755 0.8699 0.7311 0.72 0.63 0.73 0.86 0.7047 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 0.817798 NA NA 0.68093 0.852861 NA 0.587 NA 1.89567 1471 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 1471 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 1471 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 1471 9 131848382 131848382 T A intronic DOLPP1 NA NA NA intronic ENSG00000167130 NA NA NA NA NA 9q34.11 NA NA NA NA rs7859344 0.59 0.59 0.575 0.573682 0.7475 0.626 0.6326 0.2935 0.6779 0.74 0.61 0.62 0.3 0.6594 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.063682 NA NA 0.701977 0.329778 NA 0.572 NA 1.891123 1471 8 87567031 87567031 G A intronic CPNE3 NA NA NA intronic ENSG00000085719,ENSG00000170289 NA NA NA NA NA 8q21.3 NA NA NA NA rs2304790 0.54 0.54 0.541 0.530551 0.7366 0.3016 0.428 0.5673 0.5777 0.74 0.25 0.5 0.58 0.6298 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.74542 NA NA 0.74314 0.617113 NA 0.623 NA 1.89046 1471 7 124486980 124486980 T C intronic POT1 NA NA NA intronic ENSG00000128513 NA NA NA NA NA 7q31.33 NA NA NA NA rs7794637 0.75 0.75 0.759 0.721845 0.7177 0.7986 0.6844 0.7648 0.6155 0.71 0.84 0.68 0.76 0.695 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 -0.973403 NA NA 0.696977 0.736723 NA 0.884 NA 1.890323 1471 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 1471 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 1471 1 3646137 3646137 C T intronic TP73 NA NA NA intronic ENSG00000078900 NA NA NA NA NA 1p36.32 NA NA NA NA rs11589885 0.46 0.46 0.449 0.397564 0.7525 0.2649 0.5807 0.1142 0.4223 0.76 0.26 0.6 0.13 0.6271 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 -0.060302 NA NA 0.73278 0.215596 NA 0.37 NA 1.88762 1471 11 69999252 69999252 G A intronic ANO1 NA NA NA intronic ENSG00000131620 NA NA NA NA NA 11q13.3 NA NA NA NA rs3781663 0.72 0.72 0.723 0.685503 0.6978 0.7718 0.6527 0.6861 0.6063 0.72 0.79 0.66 0.68 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 -0.646062 NA NA 0.708616 0.700469 NA 0.696 NA 1.887384 1471 2 165353712 165353712 C T intronic GRB14 NA NA NA intronic ENSG00000115290 NA NA NA NA NA 2q24.3 NA NA NA NA rs8192673 0.63 0.63 0.606 0.60024 0.7247 0.3819 0.7608 0.6747 0.4826 0.73 0.38 0.75 0.68 0.6715 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 0.010274 NA NA 0.716512 0.699047 NA 0.667 NA 1.887288 1471 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 1471 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 1471 6 24174955 24174955 G C UTR3 DCDC2 NM_001195610:c.*3C>G,NM_016356:c.*3C>G NA NA UTR3 ENSG00000146038 ENST00000378454:c.*3C>G,ENST00000378450:c.*3C>G NA NA NA NA 6p22.3 NA NA NA NA rs9358755 0.76 0.76 0.725 0.75 0.8091 0.9722 0.8156 0.4017 0.8845 0.8 0.96 0.82 0.41 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 -0.158523 NA NA 0.816628 0.480935 NA 0.717 NA 1.8871054 1471 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 1471 6 30575603 30575603 A G intronic PPP1R10 NA NA NA intronic ENSG00000204569 NA NA NA NA NA 6p21.33 NA NA NA NA rs1264420 0.75 0.75 0.765 0.809704 0.6769 0.8264 0.7507 0.8759 0.8814 0.67 0.78 0.76 0.84 0.7472 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 0.52419 NA NA 0.690845 0.861019 NA 0.812 NA 1.885055 1472 12 48104746 48104746 G C intronic ENDOU NA NA NA ncRNA_intronic ENSG00000257433 NA NA NA NA NA 12q13.11 NA NA NA NA rs1235152 0.79 0.79 0.78 0.786542 0.8221 0.8244 0.8213 0.6717 0.8415 0.84 0.84 0.79 0.66 0.813 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 0.194162 NA NA 0.813372 0.704948 NA 0.87 NA 1.8848613 1472 1 1585642 1585642 G T intronic CDK11B NA NA NA intronic ENSG00000248333 NA NA NA NA NA 1p36.33 NA NA NA NA rs3936009 0.63 0.63 0.582 0.620407 0.7306 0.5327 0.7752 0.4682 0.6933 0.74 0.54 0.74 0.49 0.6735 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.765043 NA NA 0.712073 0.513994 NA 0.623 NA 1.883827 1472 12 2760970 2760970 G A intronic CACNA1C NA NA NA intronic ENSG00000151067 NA NA NA NA NA 12p13.33 NA NA NA NA rs1990322 0.6 0.6 NA 0.553914 0.7008 0.7173 0.7478 0.1301 0.6697 0.72 0.75 0.73 0.17 0.6952 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 -0.253584 NA NA 0.720411 0.256301 NA 0.478 NA 1.883589 1472 6 158571655 158571655 G C intronic SERAC1 NA NA NA intronic ENSG00000122335 NA NA NA NA NA 6q25.3 NA NA NA NA rs6929520 0.73 0.73 0.711 0.713658 0.6948 0.7262 0.8242 0.7042 0.6544 0.69 0.76 0.78 0.72 0.7177 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 -0.117099 NA NA 0.704053 0.710478 NA 0.739 NA 1.883447 1472 1 169698825 169698825 T G intronic SELE NA NA NA intronic ENSG00000007908 NA NA NA NA NA 1q24.2 NA NA NA NA rs1534904 0.77 0.77 0.78 0.801917 0.6909 0.6935 0.7781 0.9796 0.8047 0.69 0.71 0.76 0.97 0.743 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 1.026169 NA NA 0.682791 0.932592 NA 0.71 NA 1.883309 1472 19 18499780 18499780 A G UTR3 GDF15 NM_004864:c.*35A>G NA NA UTR3 ENSG00000130513 ENST00000595973:c.*35A>G,ENST00000252809:c.*35A>G NA NA NA NA 19p13.11 NA NA NA NA rs1227733 0.85 0.85 0.832 0.828474 0.8151 0.8522 0.8184 0.9002 0.728 0.81 0.87 0.83 0.9 0.8187 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 0.640894 NA NA 0.816941 0.888266 NA 0.783 NA 1.8825924 1472 10 3181282 3181282 G A intronic PITRM1 NA NA NA intronic ENSG00000107959 NA NA NA NA NA 10p15.2 NA NA NA NA rs2279220 0.72 0.72 0.73 0.694688 0.7167 0.7361 0.647 0.6785 0.6851 0.73 0.77 0.71 0.68 0.6945 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 -0.555564 NA NA 0.706256 0.708785 NA 0.783 NA 1.882544 1472 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 1472 15 93844762 93844762 C T intergenic RGMA,MCTP2 dist=212319;dist=996668 NA NA ncRNA_exonic ENSG00000258971 NA NA NA NA NA 15q26.1 NA NA NA NA rs12909691 0.5 0.5 0.481 0.521565 0.7276 0.247 0.6499 0.3684 0.7086 0.72 0.22 0.66 0.38 0.6483 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.264346 NA NA 0.743467 0.449085 NA 0.594 NA 1.880633 1472 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 1472 12 102057166 102057166 T C intronic MYBPC1 NA NA NA intronic ENSG00000196091 NA NA NA NA NA 12q23.2 NA NA NA NA rs2254631 0.59 0.59 0.565 0.550319 0.7286 0.4345 0.7839 0.4002 0.5235 0.72 0.43 0.77 0.43 0.6555 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 -0.585524 NA NA 0.735698 0.450295 NA 0.674 NA 1.880202 1472 1 100340225 100340225 G A intronic AGL NA NA NA intronic ENSG00000162688 NA NA NA NA NA 1p21.2 NA NA NA NA rs634880 0.73 0.73 0.74 0.743411 0.6859 0.6954 0.683 0.8691 0.7249 0.68 0.68 0.69 0.88 0.7314 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 -1.526812 NA NA 0.702954 0.836813 NA 0.674 NA 1.879746 1472 22 38243675 38243675 A T downstream MIR659 NA NA NA downstream ENSG00000207696 NA NA NA NA NA 22q13.1 NA NA NA NA rs5750504 0.64 0.64 0.628 0.638578 0.5865 0.8433 0.6124 0.5378 0.636 0.58 0.84 0.58 0.53 0.6124 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 0.116762 NA NA 0.588498 0.536671 NA 0.623 NA 1.8792686 1472 1 39929240 39929240 T C intronic MACF1 NA NA NA intronic ENSG00000127603 NA NA NA NA NA 1p34.3 NA NA NA NA rs7554206 0.66 0.66 0.64 0.672324 0.7187 0.6944 0.6916 0.5151 0.8006 0.73 0.69 0.68 0.5 0.7061 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 0.401408 NA NA 0.696047 0.551521 NA 0.638 NA 1.879153 1472 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 1472 5 115351498 115351498 C T intronic AQPEP NA NA NA intronic ENSG00000172901 NA NA NA NA NA 5q23.1 NA NA NA NA rs17485148 0.81 0.81 0.821 0.845447 0.67 0.9653 0.8141 0.8843 0.8722 0.66 0.96 0.8 0.88 0.7633 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 1.897593 1.897593 NA 0.689651 0.861881 NA 0.877 NA 1.877049 1472 2 167162277 167162277 G A intronic SCN9A NA NA NA intronic ENSG00000169432 NA NA NA NA NA 2q24.3 NA NA NA NA rs4429487 0.7 0.7 0.724 0.732428 0.6879 0.6111 0.6801 0.8601 0.7679 0.67 0.59 0.73 0.87 0.7184 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 1.513862 1.513862 NA 0.716784 0.841509 NA 0.761 NA 1.876916 1472 9 35825413 35825413 C T intronic FAM221B NA NA NA intronic ENSG00000137103,ENSG00000204930 NA NA NA NA NA 9p13.3 NA NA NA NA rs4879930 0.56 0.56 0.531 0.554313 0.7197 0.4534 0.6715 0.3411 0.6933 0.73 0.45 0.66 0.35 0.6684 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.989092 NA NA 0.735372 0.401124 NA 0.551 NA 1.876528 1472 1 36205166 36205166 A G intronic CLSPN NA NA NA ncRNA_intronic ENSG00000232335 NA NA NA NA NA 1p34.3 NA NA NA NA rs577483 0.51 0.51 0.483 0.520367 0.8638 0.2599 0.5605 0.2322 0.7965 0.86 0.22 0.59 0.24 0.7271 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 2.182082 2.182082 NA 0.866395 0.348616 NA 0.638 NA 1.8760383 1472 22 50684296 50684296 T C intronic HDAC10 NA NA NA UTR3 ENSG00000100429 ENST00000454936:c.*450A>G NA NA NA NA 22q13.33 NA NA NA NA rs13058062 0.82 0.82 0.831 0.864217 0.7356 0.8641 0.7709 0.9849 0.8998 0.73 0.85 0.77 0.97 0.8183 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 0.118831 NA NA 0.736879 0.940288 NA 0.862 NA 1.8758877 1472 4 3445745 3445745 C T intronic HGFAC NA NA NA intronic ENSG00000109758 NA NA NA NA NA 4p16.3 NA NA NA NA rs4690097 0.77 0.77 0.764 0.731829 0.7207 0.9236 0.7118 0.6604 0.6564 0.74 0.94 0.72 0.66 0.7179 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 0.203328 NA NA 0.685625 0.673706 NA 0.594 NA 1.875775 1473 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 1473 11 118209960 118209960 A C intronic CD3D NA NA NA intronic ENSG00000167286 NA NA NA NA NA 11q23.3 NA NA NA NA rs2276424 0.65 0.65 0.611 0.625799 0.7406 0.8006 0.536 0.3616 0.7485 0.73 0.79 0.61 0.37 0.6752 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 -0.062173 NA NA 0.709846 0.427045 NA 0.565 NA 1.874354 1473 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 1473 2 157427837 157427837 C A intronic GPD2 NA NA NA intronic ENSG00000115159 NA NA NA NA NA 2q24.1 NA NA NA NA rs1469651 0.69 0.69 0.697 0.688299 0.7028 0.7927 0.7118 0.5764 0.7004 0.7 0.78 0.68 0.59 0.7023 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 0.291465 NA NA 0.721512 0.549932 NA 0.754 NA 1.873388 1473 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 1473 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 1473 2 169842809 169842809 T C intronic ABCB11 NA NA NA intronic ENSG00000073734 NA NA NA NA NA 2q31.1 NA NA NA NA rs2287618 0.74 0.74 0.788 0.774161 0.7286 0.8145 0.536 0.8684 0.8211 0.72 0.8 0.57 0.85 0.7053 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 -1.197826 NA NA 0.694261 0.840011 NA 0.63 NA 1.871839 1473 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 1473 19 5206775 5206775 A G UTR3 PTPRS NM_002850:c.*10T>C,NM_130855:c.*10T>C,NM_130853:c.*10T>C,NM_130854:c.*10T>C NA NA UTR3 ENSG00000105426 ENST00000353284:c.*10T>C,ENST00000348075:c.*10T>C,ENST00000262963:c.*10T>C,ENST00000357368:c.*10T>C,ENST00000372412:c.*10T>C,ENST00000587303:c.*10T>C,ENST00000588012:c.*10T>C,ENST00000592099:c.*10T>C NA NA NA NA 19p13.3 NA NA NA NA rs1143700 0.81 0.81 0.801 0.832668 0.834 0.6657 0.8112 0.9879 0.8088 0.82 0.68 0.76 0.97 0.8125 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 2.063282 2.063282 NA 0.815698 0.95665 NA 0.717 NA 1.8711354 1473 19 10071063 10071063 T C UTR3 COL5A3 NM_015719:c.*24A>G NA NA UTR3 ENSG00000080573 ENST00000264828:c.*24A>G NA NA NA NA 19p13.2 NA NA NA NA rs10406152 0.86 0.86 0.873 0.828674 0.825 0.8542 0.7406 0.9349 0.7249 0.82 0.88 0.78 0.93 0.8182 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 -0.840549 NA NA 0.819186 0.919428 NA 0.609 NA 1.8709474 1473 2 191922841 191922841 G A intronic STAT4 NA NA NA intronic ENSG00000138378 NA NA NA NA NA 2q32.3 NA NA NA NA rs3024866 0.54 0.54 0.511 0.496406 0.7435 0.5188 0.5187 0.1437 0.68 0.75 0.53 0.6 0.16 0.6415 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 1.329503 1.329503 NA 0.744186 0.230368 NA 0.514 NA 1.870814 1473 16 20792188 20792188 T C intronic ACSM3,ERI2 NA NA NA intronic ENSG00000005187,ENSG00000196678 NA NA NA NA NA 16p12.3 NA NA NA NA rs5715 0.59 0.59 0.587 0.629792 0.7177 0.4435 0.6326 0.6452 0.7086 0.72 0.39 0.59 0.63 0.6826 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 1.345298 1.345298 NA 0.729302 0.663108 NA 0.609 NA 1.870398 1473 2 79255426 79255426 G C UTR3 REG3G NM_198448:c.*24G>C,NM_001270040:c.*24G>C,NM_001008387:c.*24G>C NA NA UTR3 ENSG00000143954 ENST00000393897:c.*24G>C,ENST00000272324:c.*24G>C,ENST00000409471:c.*24G>C NA NA NA NA 2p12 NA NA NA NA rs383969 0.85 0.85 0.837 0.862819 0.8042 0.9087 0.9035 0.851 0.863 0.81 0.89 0.88 0.84 0.8473 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 0.623046 NA NA 0.812791 0.853382 NA 0.833 NA 1.8690424 1473 2 196915991 196915991 A G intronic DNAH7 NA NA NA intronic ENSG00000118997 NA NA NA NA NA 2q32.3 NA NA NA NA rs10174065 0.78 0.78 0.781 0.770168 0.7207 0.9038 0.768 0.7421 0.7229 0.73 0.89 0.73 0.76 0.7311 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 -1.527219 NA NA 0.679159 0.712507 NA 0.775 NA 1.869041 1473 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 1473 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 1473 4 41615690 41615690 T A intronic LIMCH1 NA NA NA intronic ENSG00000064042 NA NA NA NA NA 4p13 NA NA NA NA rs13146318 0.59 0.59 0.527 0.497604 0.7475 0.6885 0.7349 0.0492 0.4816 0.75 0.71 0.74 0.08 0.6568 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 2.34126 2.34126 NA 0.72907 0.169768 NA 0.543 NA 1.86663 1473 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 1473 16 50109478 50109478 G A intronic HEATR3 NA NA NA intronic ENSG00000155393 NA NA NA NA NA 16q12.1 NA NA NA NA rs12931497 0.65 0.65 0.612 0.661741 0.7137 0.6429 0.7349 0.553 0.7229 0.73 0.62 0.73 0.53 0.7074 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 -1.379688 NA NA 0.712907 0.594404 NA 0.63 NA 1.865993 1473 18 47463587 47463587 A G intronic MYO5B NA NA NA intronic ENSG00000167306 NA NA NA NA NA 18q21.1 NA NA NA NA rs1790797 0.64 0.64 0.676 0.660743 0.7296 0.4147 0.6542 0.7806 0.6861 0.72 0.41 0.64 0.8 0.683 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 -0.420512 NA NA 0.721595 0.806818 NA 0.783 NA 1.865805 1473 7 142001030 142001030 A G intergenic LOC730441,MTRNR2L6 dist=28962;dist=373101 NA NA exonic ENSG00000226660 NA nonsynonymous SNV ENSG00000226660:ENST00000455382:exon2:c.A23G:p.H8R NA NA 7q34 NA NA NA NA rs56095598 0.98 0.98 0.98 0.982827 0.9891 1 0.9928 0.9478 0.999 0.99 1 0.99 0.94 0.9903 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.587477 NA NA 0.988375 0.959635 NA 0.971 NA 1.8655584 1473 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 1474 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 1474 9 135978153 135978153 G C intronic RALGDS NA NA NA intronic ENSG00000160271 NA NA NA NA NA 9q34.2 NA NA NA NA rs694881 0.73 0.73 0.733 0.76238 0.7048 0.8442 0.6657 0.7027 0.8865 0.71 0.84 0.65 0.71 0.7374 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 1.301583 1.301583 NA 0.693068 0.709773 NA 0.732 NA 1.864732 1474 1 46080947 46080947 A C intronic NASP NA NA NA intronic ENSG00000132780 NA NA NA NA NA 1p34.1 NA NA NA NA rs1972410 0.71 0.71 0.707 0.6875 0.7207 0.6925 0.6542 0.733 0.6104 0.71 0.69 0.69 0.73 0.7073 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 -1.626053 NA NA 0.708023 0.75034 NA 0.601 NA 1.863977 1474 9 125673051 125673051 T G UTR3 ZBTB6 NM_006626:c.*26A>C NA NA UTR3 ENSG00000186130 ENST00000373659:c.*26A>C NA NA NA NA 9q33.2 NA NA NA NA rs1147321 0.57 0.57 0.548 0.59385 0.8449 0.3026 0.6124 0.4448 0.8241 0.85 0.27 0.65 0.42 0.7681 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 -2.369793 NA NA 0.856628 0.537676 NA 0.601 NA 1.8637054 1474 1 147131465 147131465 T C intronic ACP6 NA NA NA intronic ENSG00000162836 NA NA NA NA NA 1q21.2 NA NA NA NA rs6674938 0.74 0.74 0.729 0.701278 0.7187 0.7163 0.7622 0.7383 0.5746 0.72 0.73 0.75 0.76 0.7109 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 0.970188 NA NA 0.706744 0.741262 NA 0.761 NA 1.863656 1474 10 99510068 99510068 G T intronic ZFYVE27 NA NA NA intronic ENSG00000155256 NA NA NA NA NA 10q24.2 NA NA NA NA rs3750614 0.59 0.59 0.583 0.552716 0.7664 0.4901 0.5403 0.3691 0.6544 0.76 0.51 0.6 0.39 0.6477 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 -1.11359 NA NA 0.723605 0.435089 NA 0.514 NA 1.862295 1474 6 101312104 101312104 T C intronic ASCC3 NA NA NA intronic ENSG00000112249 NA NA NA NA NA 6q16.3 NA NA NA NA rs705600 0.73 0.73 0.717 0.666733 0.7336 0.752 0.7421 0.6815 0.4366 0.74 0.77 0.71 0.68 0.6888 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 1.229648 NA NA 0.7162 0.709091 NA 0.696 NA 1.8614 1474 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 1474 7 45697295 45697295 C G intronic ADCY1 NA NA NA intronic ENSG00000164742 NA NA NA NA NA 7p12.3 NA NA NA NA rs2461131 0.63 0.63 0.315 0.702276 0.7922 0.7222 0.8401 0.4402 0.8456 0.69 0.65 0.72 0.44 0.7852 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.059565 NA NA 0.562326 0.209714 NA NA NA 1.860274 1474 10 71055459 71055459 T C intronic HK1 NA NA NA intronic ENSG00000156515 NA NA NA NA NA 10q22.1 NA NA NA NA rs4746837 0.71 0.71 0.684 0.704473 0.7167 0.8294 0.5562 0.6513 0.7403 0.73 0.83 0.6 0.61 0.7119 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 1.561924 1.561924 NA 0.711512 0.635497 NA 0.572 NA 1.859888 1474 1 39806610 39806610 C T intronic MACF1 NA NA NA exonic ENSG00000127603 NA synonymous SNV ENSG00000127603:ENST00000289893:exon4:c.C5886T:p.C1962C,ENSG00000127603:ENST00000372915:exon39:c.C10581T:p.C3527C,ENSG00000127603:ENST00000564288:exon40:c.C10566T:p.C3522C,ENSG00000127603:ENST00000567887:exon40:c.C10677T:p.C3559C NA NA 1p34.3 NA NA NA NA rs3116396 0.96 0.96 0.951 0.955272 0.996 0.9405 0.9827 0.8918 0.9949 1 0.95 0.98 0.89 0.9838 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.284082 NA NA 0.993953 0.906718 NA 0.942 NA 1.8595803 1474 3 25836023 25836023 C T UTR3 OXSM NM_001145391:c.*38C>T,NM_017897:c.*38C>T NA NA UTR3 ENSG00000151093 ENST00000280701:c.*38C>T,ENST00000420173:c.*38C>T NA NA NA NA 3p24.2 NA NA NA NA rs9831075 0.78 0.78 0.759 0.741014 0.8141 0.9226 0.804 0.5023 0.7566 0.82 0.92 0.8 0.54 0.8142 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 0.335216 NA NA 0.845899 0.604933 NA 0.645 NA 1.8591344 1474 7 142168663 142168663 G C intergenic LOC730441,MTRNR2L6 dist=196595;dist=205468 NA NA exonic ENSG00000230099 NA nonsynonymous SNV ENSG00000230099:ENST00000454561:exon2:c.C60G:p.D20E NA NA 7q34 NA NA NA NA rs361352 0.84 0.84 0.649 0.961462 0.999 1 0.9885 0.8608 1 0.85 0.9 0.91 0.7 0.9903 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 -0.56905 NA 0.34 0.98497 0.784726 NA NA NA 1.8590634 1474 11 18424590 18424590 T A intronic LDHA NA NA NA intronic ENSG00000134333 NA NA NA NA NA 11p15.1 NA NA NA NA rs3758680 0.64 0.64 0.604 0.634784 0.7336 0.6478 0.7334 0.4183 0.7423 0.74 0.62 0.73 0.47 0.7014 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.033983 NA NA 0.706007 0.475843 NA 0.667 NA 1.858993 1474 19 9001822 9001822 A G intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs12976111 0.63 0.63 0.588 0.598243 0.7177 0.6071 0.7219 0.3812 0.6718 0.7 0.67 0.71 0.43 0.6848 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.546971 NA NA 0.740053 0.474623 NA 0.543 NA 1.857447 1474 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 1474 16 50120122 50120122 C T intronic HEATR3 NA NA NA intronic ENSG00000155393 NA NA NA NA NA 16q12.1 NA NA NA NA rs2287196 0.65 0.65 0.6 0.659345 0.7127 0.6429 0.7349 0.5446 0.7229 0.73 0.62 0.73 0.53 0.7191 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 -2.4468 NA NA 0.711744 0.587125 NA 0.63 NA 1.856456 1474 1 159785284 159785284 C G intronic FCRL6 NA NA NA intronic ENSG00000181036 NA NA NA NA NA 1q23.2 NA NA NA NA rs4411129 0.8 0.8 0.796 0.795727 0.6948 0.7867 0.8184 0.9614 0.6687 0.7 0.8 0.83 0.96 0.7419 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 0.066005 NA NA 0.707093 0.918747 NA 0.826 NA 1.856207 1474 22 45595721 45595721 A G intronic KIAA0930 NA NA NA intronic ENSG00000100364 NA NA NA NA NA 22q13.31 NA NA NA NA rs5765217 0.72 0.72 0.719 0.724641 0.7286 0.8333 0.6023 0.593 0.8732 0.73 0.86 0.67 0.59 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 0.161451 NA NA 0.706628 0.598956 NA 0.529 NA 1.855772 1474 22 37267767 37267767 A G intronic NCF4 NA NA NA intronic ENSG00000100365 NA NA NA NA NA 22q12.3 NA NA NA NA rs2072708 0.64 0.64 0.598 0.626997 0.7078 0.6865 0.745 0.3843 0.727 0.71 0.7 0.71 0.41 0.7033 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 -0.338811 NA NA 0.73364 0.435215 NA 0.674 NA 1.85526 1475 15 69003871 69003871 G T intronic CORO2B NA NA NA intronic ENSG00000103647 NA NA NA NA NA 15q23 NA NA NA NA rs3736272 0.66 0.66 0.626 0.64976 0.7028 0.8601 0.745 0.2678 0.8272 0.72 0.86 0.7 0.34 0.7254 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 0.272554 NA NA 0.716961 0.364545 NA 0.703 NA 1.854839 1475 2 157406296 157406296 A C intronic GPD2 NA NA NA intronic ENSG00000115159 NA NA NA NA NA 2q24.1 NA NA NA NA rs2116664 0.72 0.72 0.728 0.72524 0.7048 0.7927 0.7349 0.7027 0.7004 0.7 0.78 0.7 0.71 0.7184 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 0.091254 NA NA 0.722326 0.690876 NA 0.775 NA 1.854474 1475 17 8383894 8383894 A G intronic MYH10 NA NA NA exonic ENSG00000166579 NA synonymous SNV ENSG00000166579:ENST00000299734:exon9:c.A1056G:p.T352T NA NA 17p13.1 NA NA NA NA rs6503120 0.96 0.96 0.949 0.946486 0.999 1 0.9856 0.8056 1 1 1 0.99 0.82 0.9831 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.274597 NA NA 0.99814 0.82584 NA 0.913 NA 1.8530933 1475 2 196912067 196912067 A G intronic DNAH7 NA NA NA intronic ENSG00000118997 NA NA NA NA NA 2q32.3 NA NA NA NA rs4850381 0.78 0.78 0.785 0.771765 0.7207 0.9038 0.7666 0.7519 0.7188 0.74 0.9 0.73 0.77 0.733 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 0.371915 NA NA 0.693315 0.741901 NA 0.783 NA 1.852985 1475 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 1475 19 40742320 40742320 T C intronic AKT2 NA NA NA intronic ENSG00000105221 NA NA NA NA NA 19q13.2 NA NA NA NA rs2304189 0.74 0.74 0.728 0.74381 0.7286 0.6776 0.7363 0.7943 0.7648 0.73 0.68 0.76 0.82 0.7165 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 0.413901 NA NA 0.702674 0.796641 NA 0.703 NA 1.852226 1475 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 1475 3 7456675 7456675 C T intronic GRM7 NA NA NA intronic ENSG00000196277 NA NA NA NA NA 3p26.1 NA NA NA NA rs712774 0.68 0.68 0.713 0.701478 0.7167 0.5456 0.572 0.8495 0.7382 0.72 0.57 0.61 0.83 0.6955 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 -0.349246 NA NA 0.736799 0.840218 NA 0.601 NA 1.851001 1475 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 1475 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 1475 15 72492779 72492779 C A intronic PKM NA NA NA intronic ENSG00000067225 NA NA NA NA NA 15q23 NA NA NA NA rs8040828 0.58 0.58 0.584 0.580072 0.7455 0.3899 0.6196 0.4955 0.6922 0.74 0.41 0.66 0.48 0.6796 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.220549 NA NA 0.724459 0.556617 NA 0.681 NA 1.850441 1475 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 1475 2 202151163 202151163 A G intronic CASP8 NA NA NA intronic ENSG00000064012 NA NA NA NA NA 2q33.1 NA NA NA NA rs3769818 0.69 0.69 0.717 0.745208 0.7167 0.6964 0.5677 0.8109 0.862 0.71 0.67 0.58 0.77 0.7151 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 0.864262 NA NA 0.717907 0.791648 NA 0.681 NA 1.850293 1475 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 1475 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 1475 4 5803669 5803669 T C intronic EVC NA NA NA intronic ENSG00000072840 NA NA NA NA NA 4p16.2 NA NA NA NA rs1031919 0.66 0.66 0.65 0.690495 0.7018 0.5724 0.6571 0.6967 0.816 0.7 0.57 0.67 0.7 0.727 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.007336 NA NA 0.722093 0.721062 NA 0.768 NA 1.849107 1475 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 1475 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 1475 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 1475 11 9861009 9861009 G A intronic SBF2 NA NA NA ncRNA_intronic ENSG00000255476 NA NA NA NA NA 11p15.4 NA NA NA NA rs7483882 0.67 0.67 0.669 0.635583 0.8509 0.2966 0.6599 0.7088 0.6472 0.87 0.34 0.73 0.72 0.7727 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 1.460593 1.460593 NA 0.862599 0.722172 NA 0.681 NA 1.8471343 1475 14 51107452 51107452 T C intronic SAV1 NA NA NA intronic ENSG00000151748 NA NA NA NA NA 14q22.1 NA NA NA NA rs871643 0.77 0.77 0.755 0.771965 0.6879 0.7907 0.7968 0.8283 0.7454 0.71 0.8 0.8 0.82 0.7434 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 0.791843 NA NA 0.72186 0.817068 NA 0.862 NA 1.84684 1475 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 1475 17 8166378 8166378 T C intronic PFAS NA NA NA intronic ENSG00000178921 NA NA NA NA NA 17p13.1 NA NA NA NA rs7206953 0.62 0.62 0.57 0.583466 0.7256 0.5645 0.7435 0.3722 0.6288 0.74 0.61 0.71 0.37 0.6945 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.605024 NA NA 0.734419 0.43872 NA 0.674 NA 1.845481 1475 8 71071695 71071695 C T intronic NCOA2 NA NA NA intronic ENSG00000140396 NA NA NA NA NA 8q13.3 NA NA NA NA rs2272670 0.52 0.52 0.46 0.473043 0.7376 0.3224 0.6182 0.2935 0.4959 0.74 0.34 0.64 0.31 0.6537 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 0.621139 NA NA 0.763319 0.382856 NA 0.616 NA 1.845381 1476 10 70531217 70531217 C T intronic CCAR1 NA NA NA intronic ENSG00000060339 NA NA NA NA NA 10q21.3 NA NA NA NA rs10823258 0.63 0.63 0.586 0.623403 0.7336 0.6538 0.7478 0.4455 0.6309 0.73 0.64 0.71 0.4 0.6876 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 -0.215006 NA NA 0.734528 0.490682 NA 0.572 NA 1.844272 1476 1 171607702 171607702 C T intronic MYOC NA NA NA intronic ENSG00000034971 NA NA NA NA NA 1q24.3 NA NA NA NA rs2032555 0.77 0.77 0.795 0.784545 0.7147 0.7917 0.6542 0.8865 0.8037 0.72 0.8 0.69 0.89 0.7287 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 -1.026057 NA NA 0.712442 0.849296 NA 0.848 NA 1.844158 1476 11 102666043 102666043 A G ncRNA_intronic WTAPP1 NA NA NA ncRNA_intronic ENSG00000255282 NA NA NA NA NA 11q22.2 NA NA NA NA rs491152 0.94 0.94 0.95 0.93131 0.9483 0.8899 0.8876 0.9947 0.9018 0.94 0.89 0.92 0.99 0.9301 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 0.403991 NA NA 0.944173 0.987063 NA 0.957 NA 1.8440936 1476 7 142168452 142168452 C A intergenic LOC730441,MTRNR2L6 dist=196384;dist=205679 NA NA exonic ENSG00000230099 NA nonsynonymous SNV ENSG00000230099:ENST00000454561:exon2:c.G271T:p.D91Y NA NA 7q34 NA NA NA NA rs361355 0.96 0.96 0.966 0.961462 0.999 1 0.9885 0.8608 1 0.99 1 0.99 0.86 0.9907 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.756918 NA 1 0.999635 0.888449 NA 0.957 NA 1.8439984 1476 1 247163187 247163187 T C ncRNA_intronic ZNF670-ZNF695 NA NA NA intronic ENSG00000135747,ENSG00000197472 NA NA NA NA NA 1q44 NA NA NA NA rs2818870 0.88 0.88 0.863 0.819888 0.834 0.9742 0.9251 0.7837 0.6207 0.85 0.98 0.91 0.79 0.8253 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 -0.124295 NA NA 0.831049 0.79055 NA 0.884 NA 1.8429843 1476 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 1476 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 1476 7 142423562 142423562 C T intergenic MTRNR2L6,PRSS1 dist=48037;dist=33757 NA NA exonic ENSG00000211752 NA nonsynonymous SNV ENSG00000211752:ENST00000390399:exon2:c.C218T:p.A73V NA NA 7q34 NA NA NA NA rs62001054 0.98 0.98 0.98 0.974441 1 1 0.9914 0.9077 1 1 1 0.99 0.93 0.9933 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.613758 NA 0.32 0.999879 0.929614 NA 0.993 NA 1.8401544 1476 7 142176378 142176378 A G intergenic LOC730441,MTRNR2L6 dist=204310;dist=197753 NA NA exonic ENSG00000253409 NA nonsynonymous SNV ENSG00000253409:ENST00000390369:exon2:c.T298C:p.C100R NA NA 7q34 NA NA NA NA rs361393 0.98 0.98 0.982 0.978035 0.999 1 0.9899 0.9228 1 1 1 0.99 0.93 0.9946 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.492215 NA 0.98 0.999759 0.939111 NA 0.978 NA 1.8399744 1476 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 1476 7 142013384 142013384 G C intergenic LOC730441,MTRNR2L6 dist=41316;dist=360747 NA NA exonic ENSG00000211710 NA nonsynonymous SNV ENSG00000211710:ENST00000390357:exon2:c.G239C:p.R80P NA NA 7q34 NA NA NA NA rs361401 0.98 0.98 0.982 0.978634 1 1 0.9899 0.9244 1 1 1 0.99 0.92 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 -1.667251 NA 1 0.999879 0.932474 NA 0.978 NA 1.8392544 1476 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 1476 7 142326909 142326909 C G intergenic LOC730441,MTRNR2L6 dist=354841;dist=47222 NA NA exonic ENSG00000211746 NA nonsynonymous SNV ENSG00000211746:ENST00000390393:exon2:c.C207G:p.H69Q NA NA 7q34 NA NA NA NA rs76454382 0.99 0.99 0.985 0.98123 1 1 0.9957 0.9312 1 1 1 0.99 0.95 0.995 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.345192 NA 0.43 0.999879 0.947998 NA 1 NA 1.8384544 1476 5 1466813 1466813 T C intronic LPCAT1 NA NA NA intronic ENSG00000153395 NA NA NA NA NA 5p15.33 NA NA NA NA rs2277007 0.66 0.66 0.639 0.701478 0.7157 0.5942 0.7334 0.6422 0.8548 0.72 0.61 0.73 0.59 0.7212 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 0.00843 NA NA 0.724767 0.644868 NA 0.732 NA 1.838333 1476 14 50094913 50094913 C A intronic DNAAF2 NA NA NA intronic ENSG00000165506 NA NA NA NA NA 14q21.3 NA NA NA NA rs2985696 0.56 0.56 0.539 0.541933 0.7604 0.1726 0.6686 0.6082 0.5184 0.75 0.19 0.69 0.61 0.6384 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 0.457004 NA NA 0.763011 0.651418 NA 0.478 NA 1.838189 1476 20 16223922 16223922 T C intergenic MACROD2,KIF16B dist=190081;dist=28827 NA NA intergenic ENSG00000225622,ENSG00000089177 dist=18742;dist=28827 NA NA NA NA 20p12.1 NA NA NA NA rs1541065 0.69 0.69 0.704 0.711262 0.4294 0.8899 0.6383 0.882 0.638 0.44 0.89 0.61 0.9 0.6176 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 -0.964547 NA NA 0.448459 0.809851 NA 0.63 NA 1.8378744 1476 5 125887685 125887685 C T intronic ALDH7A1 NA NA NA intronic ENSG00000164904 NA NA NA NA NA 5q23.2 NA NA NA NA rs2306617 0.74 0.74 0.74 0.703075 0.7217 0.7649 0.7939 0.6589 0.6155 0.73 0.8 0.77 0.64 0.7078 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 0.077293 NA NA 0.733953 0.685656 NA 0.804 NA 1.836547 1476 12 31285169 31285169 A T intergenic DDX11,FAM60A dist=27444;dist=148351 NA NA ncRNA_intronic ENSG00000177359 NA NA NA NA NA 12p11.21 NA NA NA NA rs2287449 0.62 0.62 0.605 0.628395 0.7177 0.5655 0.6585 0.5356 0.7055 0.72 0.55 0.66 0.51 0.7198 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 0.44758 NA NA 0.726135 0.53436 NA 0.457 NA 1.836365 1476 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 1477 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 1477 13 113744139 113744139 G A intronic MCF2L NA NA NA intronic ENSG00000126217 NA NA NA NA NA 13q34 NA NA NA NA rs4907483 0.64 0.64 0.585 0.602636 0.7306 0.6935 0.6772 0.3563 0.6575 0.76 0.72 0.65 0.36 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 -0.264967 NA NA 0.734535 0.434408 NA 0.659 NA 1.834165 1477 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 1477 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 1477 10 27700887 27700887 G A intronic PTCHD3 NA NA NA intronic ENSG00000182077 NA NA NA NA NA 10p12.1 NA NA NA NA rs2429499 0.75 0.75 0.757 0.762979 0.7197 0.9841 0.6744 0.5764 0.8947 0.72 0.98 0.69 0.59 0.7413 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 1.142025 NA NA 0.707606 0.598502 NA 0.645 NA 1.831394 1477 19 16988456 16988456 A G intronic SIN3B NA NA NA intronic ENSG00000127511 NA NA NA NA NA 19p13.11 NA NA NA NA rs2303090 0.66 0.66 0.638 0.633586 0.7227 0.7321 0.6095 0.472 0.6759 0.72 0.75 0.63 0.51 0.7076 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 0.676947 NA NA 0.739767 0.490682 NA 0.652 NA 1.829933 1477 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 1477 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 1477 7 134225788 134225788 C T intronic AKR1B10 NA NA NA intronic ENSG00000198074 NA NA NA NA NA 7q33 NA NA NA NA rs4732036 0.81 0.81 0.791 0.821885 0.7137 0.9464 0.817 0.8245 0.8047 0.71 0.96 0.8 0.81 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 0.00837 NA NA 0.702209 0.8266 NA 0.826 NA 1.827691 1477 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 1477 3 20017489 20017489 G C intronic RAB5A NA NA NA intronic ENSG00000144566 NA NA NA NA NA 3p24.3 NA NA NA NA rs4858122 0.55 0.55 0.58 0.615415 0.7336 0.3155 0.6153 0.7337 0.6431 0.68 0.31 0.52 0.66 0.6814 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 0.019542 NA NA 0.75814 0.755223 NA 0.196 NA 1.82686 1477 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 1477 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 1477 2 183827018 183827018 G A intronic NCKAP1 NA NA NA intronic ENSG00000061676 NA NA NA NA NA 2q32.1 NA NA NA NA rs2271671 0.66 0.66 0.616 0.619808 0.7266 0.8552 0.7334 0.211 0.7393 0.73 0.86 0.75 0.25 0.7185 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 3.193663 3.193663 NA 0.728309 0.287562 NA 0.572 NA 1.826591 1477 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 1477 2 200245245 200245245 C G intronic SATB2 NA NA NA intronic ENSG00000119042 NA NA NA NA NA 2q33.1 NA NA NA NA rs1348813 0.53 0.53 0.478 0.497404 0.7545 0.3601 0.5994 0.323 0.5378 0.76 0.33 0.66 0.3 0.6658 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 0.94046 NA NA 0.753488 0.386064 NA 0.478 NA 1.826212 1477 17 39914070 39914070 G T intronic JUP NA NA NA intronic ENSG00000173801 NA NA NA NA NA 17q21.2 NA NA NA NA rs8067890 0.63 0.63 0.644 0.638978 0.7525 0.4653 0.5432 0.6974 0.6902 0.74 0.47 0.58 0.68 0.6784 0.74 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.704575 NA NA 0.743014 0.718323 NA 0.609 NA 1.826086 1477 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 1478 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 1478 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 1478 10 27400861 27400861 G A UTR3 YME1L1 NM_014263:c.*45C>T,NM_001253866:c.*45C>T,NM_139312:c.*45C>T NA NA UTR3 ENSG00000136758 ENST00000376016:c.*45C>T,ENST00000326799:c.*45C>T,ENST00000375972:c.*45C>T NA NA NA NA 10p12.1 NA NA NA NA rs9833 0.86 0.86 0.867 0.872404 0.829 0.9881 0.7161 0.8903 0.8845 0.82 0.98 0.74 0.87 0.8515 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 1.035132 NA NA 0.829884 0.893781 NA 0.826 NA 1.8229494 1478 9 119582872 119582872 T G intronic ASTN2 NA NA NA intronic ENSG00000148219 NA NA NA NA NA 9q33.1 NA NA NA NA rs3765537 0.76 0.76 0.737 0.746206 0.7346 0.7113 0.8271 0.829 0.6247 0.73 0.7 0.83 0.83 0.7294 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 1.782045 1.782045 NA 0.713605 0.81911 NA 0.833 NA 1.822395 1478 11 26563464 26563464 A T intronic ANO3 NA NA NA intronic ENSG00000134343 NA NA NA NA NA 11p14.2 NA NA NA NA rs410036 0.73 0.73 0.719 0.711661 0.7028 0.8284 0.7939 0.59 0.7065 0.7 0.82 0.78 0.62 0.7426 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 0.002943 NA NA 0.732961 0.628461 NA 0.645 NA 1.821639 1478 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 1478 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 1478 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 1478 8 79601420 79601420 T C intronic ZC2HC1A NA NA NA intronic ENSG00000104427 NA NA NA NA NA 8q21.12 NA NA NA NA rs1872072 0.69 0.69 0.636 0.676318 0.7157 0.8938 0.768 0.3676 0.7638 0.72 0.89 0.78 0.35 0.7316 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 1.389018 1.389018 NA 0.73317 0.431839 NA 0.638 NA 1.81953 1478 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 1478 10 88445385 88445385 G C intronic LDB3 NA NA NA intronic ENSG00000122367 NA NA NA NA NA 10q23.2 NA NA NA NA rs3740345 0.6 0.6 0.606 0.624201 0.7406 0.4702 0.5144 0.5885 0.7894 0.72 0.47 0.55 0.61 0.6875 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 -0.771027 NA NA 0.75281 0.621318 NA 0.572 NA 1.81909 1478 6 52998856 52998856 T G intronic GCM1 NA NA NA intronic ENSG00000137270 NA NA NA NA NA 6p12.1 NA NA NA NA rs2518573 0.68 0.68 0.626 0.657348 0.7276 0.5833 0.7882 0.5386 0.729 0.75 0.59 0.77 0.6 0.7217 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 0.787722 NA NA 0.731628 0.559918 NA 0.71 NA 1.819072 1478 10 55943184 55943184 T C intronic PCDH15 NA NA NA intronic ENSG00000150275 NA NA NA NA NA 10q21.1 NA NA NA NA rs7093302 0.61 0.61 0.62 0.608027 0.7684 0.129 0.6888 0.8744 0.5194 0.77 0.12 0.67 0.89 0.6638 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 -1.259484 NA NA 0.749884 0.854517 NA 0.674 NA 1.817916 1478 1 17297289 17297289 C T intronic CROCC NA NA NA intronic ENSG00000058453 NA NA NA NA NA 1p36.13 NA NA NA NA rs9435656 0.68 0.68 0.646 0.639177 0.7505 0.8512 0.7291 0.329 0.6616 0.75 0.85 0.73 0.33 0.7043 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 0.558263 NA NA 0.728162 0.416136 NA 0.551 NA 1.817038 1478 4 62800554 62800554 G A intronic LPHN3 NA NA NA intronic ENSG00000150471 NA NA NA NA NA 4q13.1 NA NA NA NA rs2305339 0.67 0.67 0.678 0.669529 0.7276 0.5446 0.6124 0.7965 0.6074 0.72 0.51 0.62 0.81 0.7057 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 -1.718069 NA NA 0.749703 0.797584 NA 0.652 NA 1.816997 1478 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 1478 14 50844856 50844856 A G intronic CDKL1 NA NA NA intronic ENSG00000100490 NA NA NA NA NA 14q21.3 NA NA NA NA rs1890978 0.76 0.76 0.768 0.753195 0.7087 0.7927 0.732 0.8729 0.6115 0.7 0.79 0.73 0.85 0.7369 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 -0.844055 NA NA 0.73782 0.882991 NA 0.746 NA 1.81658 1478 1 44083110 44083110 C T intronic PTPRF NA NA NA intronic ENSG00000142949 NA NA NA NA NA 1p34.2 NA NA NA NA rs571862 0.77 0.77 0.77 0.73742 0.7167 0.7649 0.5764 0.9455 0.5634 0.73 0.74 0.66 0.93 0.7191 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 0.118142 NA NA 0.747907 0.916931 NA 0.819 NA 1.816293 1478 14 23020970 23020970 G T intergenic OR4E2,DAD1 dist=886732;dist=12837 NA NA UTR3 ENSG00000229164 ENST00000478163:c.*422G>T NA NA NA NA 14q11.2 NA NA NA NA rs3702 0.68 0.68 0.686 0.657149 0.6889 0.874 0.6441 0.4304 0.7168 0.68 0.89 0.65 0.45 0.6655 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 0.574266 NA NA 0.662957 0.446775 NA 0.761 NA 1.8159764 1478 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 1478 14 23020919 23020919 C T intergenic OR4E2,DAD1 dist=886681;dist=12888 NA NA UTR3 ENSG00000229164 ENST00000478163:c.*371C>T NA NA NA NA 14q11.2 NA NA NA NA rs3700 0.68 0.68 0.667 0.66234 0.6928 0.873 0.647 0.4425 0.7219 0.68 0.89 0.65 0.46 0.6687 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 -0.22835 NA NA 0.656592 0.463055 NA 0.428 NA 1.8152414 1478 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 1478 9 138523332 138523332 C A intronic GLT6D1 NA NA NA intronic ENSG00000204007 NA NA NA NA NA 9q34.3 NA NA NA NA rs1333234 0.81 0.81 0.796 0.808906 0.7157 0.9435 0.8084 0.7837 0.8006 0.71 0.97 0.81 0.77 0.754 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 -0.13854 NA NA 0.715191 0.79314 NA 0.783 NA 1.815109 1478 19 5214533 5214533 A G intronic PTPRS NA NA NA intronic ENSG00000105426 NA NA NA NA NA 19p13.3 NA NA NA NA rs9304921 0.77 0.77 0.761 0.795727 0.7266 0.6726 0.7565 0.9849 0.7658 0.71 0.7 0.7 0.97 0.7337 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 -0.220974 NA NA 0.724651 0.938947 NA 0.703 NA 1.815049 1478 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 1479 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 1479 10 61007534 61007534 A G UTR3 PHYHIPL NM_032439:c.*2183A>G,NM_001143774:c.*2183A>G NA NA UTR3 ENSG00000165443 ENST00000373880:c.*2183A>G,ENST00000373878:c.*2183A>G NA NA NA NA 10q21.1 NA NA NA NA rs1459996 0.77 0.77 0.727 0.735224 0.8678 0.8829 0.8718 0.4614 0.7198 0.87 0.87 0.86 0.43 0.8087 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 1.061362 NA NA 0.842326 0.514753 NA 0.688 NA 1.8145074 1479 1 2422614 2422614 G A intronic PLCH2 NA NA NA intronic ENSG00000149527 NA NA NA NA NA 1p36.32 NA NA NA NA rs2477699 0.77 0.77 0.769 0.751997 0.7137 0.9107 0.755 0.6694 0.7372 0.71 0.93 0.76 0.7 0.748 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 -0.370223 NA NA 0.724758 0.726995 NA 0.601 NA 1.813542 1479 1 44086080 44086080 T C intronic PTPRF NA NA NA intronic ENSG00000142949 NA NA NA NA NA 1p34.2 NA NA NA NA rs568639 0.77 0.77 0.775 0.73762 0.7177 0.7649 0.5749 0.9455 0.5644 0.73 0.74 0.66 0.93 0.7227 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 -1.89191 NA NA 0.749011 0.916931 NA 0.819 NA 1.810589 1479 19 47761646 47761646 G C UTR5 CCDC9 NM_015603:c.-12G>C NA NA UTR5 ENSG00000105321 ENST00000221922:c.-12G>C,ENST00000599398:c.-12G>C,ENST00000595659:c.-12G>C,ENST00000596938:c.-12G>C NA NA NA NA 19q13.32 NA NA NA NA rs12985905 0.91 0.91 0.917 0.935503 0.8042 1 0.889 0.9932 0.9591 0.82 1 0.87 0.99 0.8822 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.372106 NA NA 0.836628 0.964367 NA 0.906 NA 1.8103054 1479 4 120983259 120983259 T C intronic MAD2L1 NA NA NA intronic ENSG00000164109 NA NA NA NA NA 4q27 NA NA NA NA rs2908989 0.81 0.81 0.819 0.798123 0.7207 0.8671 0.8127 0.8707 0.6984 0.72 0.87 0.8 0.87 0.7518 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 0.716304 NA NA 0.718721 0.849523 NA 0.696 NA 1.808779 1479 12 66698954 66698954 C G intronic HELB NA NA NA intronic ENSG00000127311 NA NA NA NA NA 12q14.3 NA NA NA NA rs1971302 0.65 0.65 0.645 0.65635 0.7684 0.4931 0.6499 0.702 0.6524 0.75 0.48 0.69 0.65 0.6781 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 0.055495 NA NA 0.745639 0.682705 NA 0.659 NA 1.807861 1479 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 1479 6 42162575 42162575 A G UTR5 GUCA1B NM_002098:c.-17T>C NA NA UTR5 ENSG00000112599 ENST00000230361:c.-17T>C NA NA NA NA 6p21.1 NA NA NA NA rs1474867 0.88 0.88 0.872 0.878994 0.841 0.9077 0.8948 0.9047 0.8425 0.84 0.93 0.88 0.9 0.8504 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 0.998869 NA NA 0.836083 0.908399 NA 0.862 NA 1.8058504 1479 16 3024188 3024188 T C intronic PKMYT1 NA NA NA intronic ENSG00000127564 NA NA NA NA NA 16p13.3 NA NA NA NA rs2074528 0.71 0.71 0.685 0.678315 0.7445 0.628 0.6282 0.7958 0.5389 0.74 0.62 0.67 0.78 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 -2.095303 NA NA 0.742959 0.785414 NA 0.609 NA 1.805341 1480 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 1480 2 241815308 241815308 A G intronic AGXT NA NA NA intronic ENSG00000172482 NA NA NA NA NA 2q37.3 NA NA NA NA rs12464426 0.74 0.74 0.797 0.78135 0.7396 0.7808 0.6643 0.9879 0.6288 0.68 0.71 0.61 0.94 0.7258 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 -1.04955 NA NA 0.734419 0.948479 NA 0.536 NA 1.800181 1480 12 48132451 48132451 T C intronic RAPGEF3 NA NA NA ncRNA_intronic ENSG00000257433 NA NA NA NA NA 12q13.11 NA NA NA NA rs2072116 0.89 0.89 0.869 0.909744 0.83 0.9772 0.9251 0.907 0.9151 0.83 0.97 0.9 0.9 0.8734 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 -0.697422 NA NA 0.829884 0.891058 NA 0.928 NA 1.8000493 1480 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 1480 1 114249382 114249382 C T intronic PHTF1 NA NA NA intronic ENSG00000116793 NA NA NA NA NA 1p13.2 NA NA NA NA rs6698586 0.65 0.65 0.659 0.679313 0.7406 0.3958 0.5735 0.8351 0.773 0.73 0.39 0.63 0.84 0.7056 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 0.205648 NA NA 0.754767 0.826067 NA 0.732 NA 1.799033 1480 18 8387058 8387058 T G intronic PTPRM NA NA NA intronic ENSG00000173482 NA NA NA NA NA 18p11.23 NA NA NA NA rs664201 0.73 0.73 0.708 0.728035 0.7276 0.8145 0.8242 0.652 0.6738 0.73 0.79 0.8 0.61 0.7403 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 0.215998 NA NA 0.733488 0.664321 NA 0.754 NA 1.798612 1480 17 18054868 18054868 G T intronic MYO15A NA NA NA intronic ENSG00000091536 NA NA NA NA NA 17p11.2 NA NA NA NA rs854773 0.72 0.72 0.731 0.681909 0.7256 0.6022 0.7637 0.8056 0.4939 0.73 0.61 0.74 0.82 0.7178 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 0.050049 NA NA 0.758206 0.802927 NA 0.725 NA 1.798394 1480 22 40673999 40673999 C T intronic TNRC6B NA NA NA intronic ENSG00000100354 NA NA NA NA NA 22q13.1 NA NA NA NA rs2413621 0.7 0.7 0.616 0.638379 0.7515 0.9871 0.8213 0.152 0.6902 0.75 0.99 0.81 0.18 0.7184 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 0.608599 NA NA 0.731794 0.243896 NA 0.587 NA 1.798306 1480 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 1480 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 1480 7 148464675 148464675 T G intronic CUL1 NA NA NA intronic ENSG00000055130 NA NA NA NA NA 7q36.1 NA NA NA NA rs6956231 0.78 0.78 0.775 0.785543 0.7276 0.6984 0.8545 0.9614 0.6483 0.72 0.68 0.83 0.95 0.7333 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 -0.0587 NA NA 0.741395 0.921925 NA 0.768 NA 1.797705 1480 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 1480 7 142045848 142045848 T C intergenic LOC730441,MTRNR2L6 dist=73780;dist=328283 NA NA downstream ENSG00000211745 NA NA NA NA NA 7q34 NA NA Name=2 NA rs17225 0.91 0.91 0.906 0.911741 0.8907 1 0.9121 0.8071 0.9836 0.9 1 0.91 0.8 0.9131 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.171131 NA NA 0.898589 0.866985 NA 0.848 NA 1.797611 1480 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 1480 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 1480 11 61960827 61960827 T C intronic SCGB1D1 NA NA NA intronic ENSG00000168515 NA NA NA NA NA 11q12.3 NA NA NA NA rs2232941 0.65 0.65 0.605 0.634784 0.7455 0.7966 0.6513 0.3351 0.7474 0.74 0.81 0.66 0.33 0.7185 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 -1.064445 NA NA 0.738893 0.413488 NA 0.688 NA 1.797107 1480 13 21205140 21205140 A T intronic IFT88 NA NA NA intronic ENSG00000032742 NA NA NA NA NA 13q12.11 NA NA NA NA rs1329519 0.75 0.75 0.723 0.764776 0.7217 0.994 0.7767 0.5151 0.9018 0.73 1 0.74 0.51 0.7602 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.585904 1.585904 NA 0.721047 0.535633 NA 0.71 NA 1.797053 1480 10 127786969 127786969 A G intronic ADAM12 NA NA NA intronic ENSG00000148848 NA NA NA NA NA 10q26.2 NA NA NA NA rs2290842 0.65 0.65 0.652 0.623602 0.7555 0.6448 0.5245 0.5151 0.683 0.77 0.62 0.55 0.56 0.6965 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 0.170798 NA NA 0.751279 0.551067 NA 0.543 NA 1.796721 1480 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 1480 3 141812759 141812759 G A intronic TFDP2 NA NA NA intronic ENSG00000114126 NA NA NA NA NA 3q23 NA NA NA NA rs9877817 0.74 0.74 0.727 0.765775 0.7217 0.7292 0.7983 0.7519 0.8446 0.72 0.72 0.79 0.77 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 0.576232 NA NA 0.721246 0.760274 NA 0.717 NA 1.795654 1480 7 2414142 2414142 A G intronic EIF3B NA NA NA intronic ENSG00000106263 NA NA NA NA NA 7p22.3 NA NA NA NA rs886632 0.83 0.83 0.837 0.805711 0.7266 0.874 0.8559 0.9236 0.6217 0.73 0.9 0.85 0.92 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 -0.672878 NA NA 0.729302 0.896732 NA 0.826 NA 1.795298 1481 20 33147737 33147737 C G UTR3 MAP1LC3A NM_181509:c.*35C>G,NM_032514:c.*35C>G NA NA UTR3 ENSG00000101460 ENST00000374837:c.*35C>G,ENST00000360668:c.*35C>G NA NA NA NA 20q11.22 NA NA NA NA rs6059915 0.85 0.85 0.839 0.790535 0.8817 0.8214 0.938 0.7731 0.5838 0.88 0.85 0.92 0.78 0.8303 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 -0.724251 NA NA 0.82718 0.73699 NA 0.775 NA 1.7941534 1481 16 23535680 23535680 A C UTR3 EARS2 NM_001083614:c.*12T>G NA NA UTR3 ENSG00000103356 ENST00000449606:c.*12T>G,ENST00000563459:c.*12T>G NA NA NA NA 16p12.2 NA NA NA NA rs1468138 0.8 0.8 0.802 0.802117 0.8499 0.7163 0.866 0.8116 0.7832 0.84 0.69 0.85 0.81 0.8304 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 1.182166 NA NA 0.858934 0.831386 NA 0.877 NA 1.7940994 1481 8 139672671 139672671 T C intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs3935045 0.58 0.58 0.58 0.53095 0.7624 0.7044 0.5677 0.1611 0.5879 0.76 0.68 0.6 0.2 0.6665 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 -0.384079 NA NA 0.777326 0.266682 NA 0.435 NA 1.793774 1481 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 1481 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 1481 22 21346485 21346485 T C intronic LZTR1 NA NA NA intronic ENSG00000099949 NA NA NA NA NA 22q11.21 NA NA NA NA rs112544 0.67 0.67 0.675 0.64397 0.7396 0.5694 0.7161 0.6596 0.5501 0.74 0.58 0.71 0.65 0.707 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 -1.335421 NA NA 0.760814 0.6734 NA 0.638 NA 1.792586 1481 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 1481 5 147504315 147504315 A T intronic SPINK5 NA NA NA intronic ENSG00000133710 NA NA NA NA NA 5q32 NA NA NA NA rs2052537 0.65 0.65 0.56 0.829273 0.7207 0.9067 0.7983 0.8359 0.8742 0.56 0.79 0.65 0.63 0.8085 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 -1.107659 NA NA 0.679376 0.775085 NA 0.174 NA 1.791424 1481 17 39913645 39913645 T C intronic JUP NA NA NA intronic ENSG00000173801 NA NA NA NA NA 17q21.2 NA NA NA NA rs7216034 0.7 0.7 0.735 0.717252 0.7535 0.5099 0.5778 0.9138 0.727 0.74 0.52 0.61 0.9 0.71 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 0.705594 NA NA 0.745581 0.887199 NA 0.681 NA 1.790919 1481 3 119198873 119198873 G A intronic POGLUT1 NA NA NA UTR3 ENSG00000163389 ENST00000486607:c.*83G>A,ENST00000497447:c.*152G>A NA NA NA NA 3q13.33 NA NA NA NA rs4688007 0.82 0.82 0.83 0.830871 0.7833 0.8482 0.745 0.8775 0.8599 0.77 0.87 0.75 0.87 0.8034 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 1.944626 1.944626 NA 0.789419 0.867453 NA 0.739 NA 1.7905477 1481 19 52909303 52909303 C T intronic ZNF528 NA NA NA intronic ENSG00000167555 NA NA NA NA NA 19q13.41 NA NA NA NA rs2290745 0.53 0.53 0.507 0.501997 0.7694 0.4147 0.5663 0.3018 0.5419 0.78 0.37 0.62 0.24 0.6596 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 -0.582973 NA NA 0.780698 0.358829 NA 0.471 NA 1.790302 1481 14 51475794 51475794 A T intronic TRIM9 NA NA NA intronic ENSG00000100505 NA NA NA NA NA 14q22.1 NA NA NA NA rs2297889 0.69 0.69 0.691 0.705471 0.7455 0.6567 0.5865 0.7224 0.7761 0.75 0.65 0.6 0.71 0.7223 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 0.123835 NA NA 0.743372 0.732637 NA 0.63 NA 1.788828 1481 1 114267347 114267347 C T intronic PHTF1 NA NA NA intronic ENSG00000116793 NA NA NA NA NA 1p13.2 NA NA NA NA rs1230640 0.67 0.67 0.682 0.703474 0.7406 0.3958 0.5778 0.9244 0.773 0.73 0.39 0.64 0.91 0.7164 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 -0.294722 NA NA 0.755233 0.903087 ID=COSN163190;OCCURENCE=1(NS) 0.754 NA 1.787767 1481 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 1481 1 114377093 114377093 A G intronic PTPN22 NA NA NA intronic ENSG00000134242 NA NA NA NA NA 1p13.2 NA NA NA NA rs1599971 0.66 0.66 0.679 0.701278 0.7406 0.3948 0.5735 0.9168 0.7761 0.73 0.38 0.64 0.9 0.7161 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 0.584191 NA NA 0.75593 0.89396 ID=COSN163192;OCCURENCE=1(breast) 0.746 NA 1.78737 1481 12 48181778 48181778 T C intronic HDAC7 NA NA NA intronic ENSG00000061273 NA NA NA NA NA 12q13.11 NA NA NA NA rs6580637 0.82 0.82 0.808 0.84345 0.7117 0.9534 0.8012 0.8517 0.8845 0.72 0.94 0.78 0.84 0.785 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 -0.091455 NA NA 0.716628 0.835906 NA 0.884 NA 1.786672 1481 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 1481 3 9495385 9495385 A G intronic SETD5 NA NA NA intronic ENSG00000168137 NA NA NA NA NA 3p25.3 NA NA NA NA rs2648580 0.63 0.63 0.611 0.63758 0.7783 0.5456 0.683 0.4425 0.819 0.77 0.53 0.69 0.49 0.7048 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 -0.35341 NA NA 0.730769 0.489059 NA 0.739 NA 1.786131 1481 10 72636450 72636450 T G intronic SGPL1 NA NA NA intronic ENSG00000166224 NA NA NA NA NA 10q22.1 NA NA NA NA rs923177 0.75 0.75 0.723 0.765375 0.7167 0.7817 0.7594 0.73 0.8507 0.72 0.78 0.74 0.75 0.7658 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 1.946761 1.946761 NA 0.731395 0.733545 NA 0.775 NA 1.786105 1481 8 27101206 27101206 A C intronic STMN4 NA NA NA intronic ENSG00000015592 NA NA NA NA NA 8p21.2 NA NA NA NA rs7830662 0.76 0.76 0.744 0.722843 0.7475 0.8819 0.7522 0.6309 0.637 0.74 0.88 0.76 0.65 0.7419 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 -0.140272 NA NA 0.725581 0.683386 NA NA NA 1.785019 1482 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 1482 8 27101204 27101204 T A intronic STMN4 NA NA NA intronic ENSG00000015592 NA NA NA NA NA 8p21.2 NA NA NA NA rs4733040 0.76 0.76 0.739 0.722843 0.7475 0.8819 0.7522 0.6309 0.637 0.74 0.88 0.76 0.65 0.7418 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 0.216643 NA NA 0.726047 0.683159 NA NA NA 1.784653 1482 1 156875107 156875107 C A intronic PEAR1 NA NA NA intronic ENSG00000187800 NA NA NA NA NA 1q23.1 NA NA NA NA rs2644590 0.47 0.47 0.432 0.391973 0.7952 0.2034 0.5735 0.1263 0.4018 0.81 0.2 0.65 0.11 0.6266 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 0.456221 NA NA 0.793837 0.229233 NA 0.449 NA 1.784363 1482 18 8387065 8387065 C T intronic PTPRM NA NA NA intronic ENSG00000173482 NA NA NA NA NA 18p11.23 NA NA NA NA rs594742 0.78 0.78 0.78 0.792332 0.7256 0.8145 0.8444 0.888 0.6718 0.73 0.79 0.82 0.83 0.7569 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 -0.495967 NA NA 0.733488 0.859737 NA 0.862 NA 1.784012 1482 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 1482 3 109027157 109027157 C T intronic DPPA2 NA NA NA intronic ENSG00000163530 NA NA NA NA NA 3q13.13 NA NA NA NA rs7611135 0.76 0.76 0.755 0.765575 0.7346 0.9097 0.7997 0.6422 0.7914 0.72 0.91 0.77 0.63 0.7561 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 -0.036271 NA NA 0.726512 0.661598 NA 0.601 NA 1.782788 1482 5 131066577 131066577 A C intronic FNIP1 NA NA NA intronic ENSG00000217128 NA NA NA NA NA 5q31.1 NA NA NA NA rs7729787 0.59 0.59 0.59 0.57528 0.7465 0.4921 0.6138 0.3759 0.727 0.73 0.51 0.64 0.42 0.7026 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 3.173369 3.173369 NA 0.768721 0.439628 NA 0.493 NA 1.782179 1482 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 1482 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 1482 18 28719674 28719674 A G intronic DSC1 NA NA NA ncRNA_intronic ENSG00000265888 NA NA NA NA NA 18q12.1 NA NA NA NA rs1789043 0.73 0.73 0.732 0.740815 0.8638 0.5198 0.7464 0.7405 0.8384 0.88 0.51 0.77 0.73 0.8185 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 0.167765 NA NA 0.869585 0.741599 NA 0.601 NA 1.7814483 1482 5 177574901 177574901 C G intronic RMND5B NA NA NA intronic ENSG00000145916 NA NA NA NA NA 5q35.3 NA NA NA NA rs7380934 0.71 0.71 0.7 0.70627 0.7376 0.6508 0.8184 0.6286 0.7566 0.75 0.64 0.8 0.64 0.7385 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 -0.743574 NA NA 0.743256 0.630277 NA 0.703 NA 1.780644 1482 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 1482 16 57509164 57509164 A G intronic DOK4 NA NA NA intronic ENSG00000125170 NA NA NA NA NA 16q21 NA NA NA NA rs223877 0.72 0.72 0.712 0.749401 0.7475 0.6042 0.6556 0.969 0.6708 0.73 0.55 0.66 0.96 0.7167 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 0.499507 NA NA 0.75593 0.936988 NA 0.783 NA 1.77987 1482 18 43446734 43446734 T C intronic EPG5 NA NA NA intronic ENSG00000152223 NA NA NA NA NA 18q12.3 NA NA NA NA rs3826633 0.84 0.84 0.851 0.84385 0.7296 0.9196 0.8357 0.966 0.7239 0.73 0.9 0.81 0.96 0.7632 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 -0.193391 NA NA 0.727427 0.933246 NA 0.819 NA 1.779773 1482 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 1482 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 1482 11 70200594 70200594 C T intronic PPFIA1 NA NA NA ncRNA_intronic ENSG00000254604 NA NA NA NA NA 11q13.3 NA NA NA NA rs7943389 0.93 0.93 0.94 0.936901 0.8519 1 0.9207 0.997 0.8896 0.85 1 0.91 1 0.8736 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.882931 NA NA 0.831043 0.96703 NA 0.862 NA 1.7767903 1482 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 1482 3 185882643 185882643 C G intronic DGKG NA NA NA intronic ENSG00000058866 NA NA NA NA NA 3q27.2 NA NA NA NA rs4686741 0.78 0.78 0.745 0.780152 0.7157 0.9187 0.8343 0.6551 0.8344 0.73 0.94 0.82 0.64 0.7711 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 0.625053 NA NA 0.736744 0.680663 NA 0.725 NA 1.776456 1482 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 1482 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 1482 19 11363146 11363146 A T intronic DOCK6 NA NA NA intronic ENSG00000130158 NA NA NA NA NA 19p13.2 NA NA NA NA rs8113582 0.63 0.63 0.574 0.591254 0.7753 0.6756 0.7061 0.1906 0.7751 0.79 0.7 0.73 0.22 0.6966 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 -0.288771 NA NA 0.752171 0.305457 NA 0.471 NA 1.775929 1483 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 1483 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 1483 19 3119184 3119184 T G intronic GNA11 NA NA NA ncRNA_intronic ENSG00000267139 NA NA NA NA NA 19p13.3 NA NA NA NA rs308046 0.82 0.82 0.806 0.773562 0.8638 0.7659 0.8991 0.6838 0.7209 0.86 0.8 0.91 0.72 0.834 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 -1.065806 NA NA 0.861395 0.72719 NA 0.833 NA 1.7741383 1483 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 1483 10 95395247 95395247 A G intronic PDE6C NA NA NA intronic ENSG00000095464 NA NA NA NA NA 10q23.33 NA NA NA NA rs616522 0.7 0.7 0.707 0.728834 0.7416 0.6419 0.6988 0.7065 0.8569 0.74 0.65 0.68 0.74 0.7397 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 -0.124613 NA NA 0.746163 0.720608 NA 0.58 NA 1.772537 1483 13 20325625 20325625 C G intronic PSPC1 NA NA NA intronic ENSG00000121390 NA NA NA NA NA 13q12.11 NA NA NA NA rs2340650 0.68 0.68 0.67 0.636382 0.7256 0.875 0.7248 0.2239 0.7935 0.75 0.92 0.69 0.28 0.7449 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 -0.749816 NA NA 0.757613 0.307989 NA 0.486 NA 1.771887 1483 12 52965722 52965722 T C intronic KRT74 NA NA NA intronic ENSG00000170484 NA NA NA NA NA 12q13.13 NA NA NA NA rs673363 0.78 0.78 0.8 0.807508 0.7336 0.7173 0.683 0.9887 0.82 0.74 0.71 0.69 0.98 0.7447 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 0.723478 NA NA 0.749884 0.952338 NA 0.754 NA 1.771816 1483 9 71986315 71986315 T C intronic FAM189A2 NA NA NA UTR5 ENSG00000135063 ENST00000303068:c.-12232T>C NA NA NA NA 9q21.11 NA NA NA NA rs1034239 0.76 0.76 0.773 0.822484 0.7992 0.7411 0.8242 0.8585 0.8804 0.77 0.7 0.77 0.83 0.8154 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 0.07828 NA NA 0.780543 0.83847 NA 0.406 NA 1.7715237 1483 13 110408608 110408608 C T UTR3 IRS2 NM_003749:c.*43G>A NA NA UTR3 ENSG00000185950 ENST00000375856:c.*43G>A NA NA NA NA 13q34 NA NA NA NA rs1865434 0.82 0.82 0.811 0.822484 0.8569 0.7788 0.866 0.8041 0.8262 0.85 0.8 0.86 0.77 0.8507 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 -0.734651 NA NA 0.854302 0.817749 NA 0.833 NA 1.7714314 1483 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 1483 2 231331799 231331799 T C intronic SP100 NA NA NA intronic ENSG00000067066 NA NA NA NA NA 2q37.1 NA NA NA NA rs1649869 0.64 0.64 0.649 0.669329 0.7555 0.4891 0.6484 0.621 0.8466 0.75 0.47 0.64 0.68 0.7204 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 2.295096 2.295096 NA 0.754535 0.637994 NA 0.609 NA 1.769565 1483 19 33481388 33481388 C T intronic RHPN2 NA NA NA intronic ENSG00000131941 NA NA NA NA NA 19q13.11 NA NA NA NA rs7250684 0.78 0.78 0.792 0.809904 0.7386 0.6915 0.6441 0.9856 0.8855 0.75 0.71 0.7 0.98 0.7578 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 -0.035997 NA NA 0.734302 0.944848 NA 0.746 NA 1.769298 1483 3 182590354 182590354 C T intronic ATP11B NA NA NA intronic ENSG00000058063 NA NA NA NA NA 3q26.33 NA NA NA NA rs771156 0.64 0.64 0.601 0.646366 0.7614 0.4583 0.7061 0.6301 0.7014 0.78 0.45 0.69 0.59 0.7123 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 -0.305686 NA NA 0.75782 0.656582 NA 0.688 NA 1.76848 1483 3 62631553 62631553 G T intronic CADPS NA NA NA intronic ENSG00000163618 NA NA NA NA NA 3p14.2 NA NA NA NA rs4588354 0.69 0.69 0.687 0.677716 0.7515 0.9236 0.7666 0.3381 0.7444 0.75 0.92 0.75 0.31 0.7354 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 -0.116732 NA NA 0.744651 0.413527 NA 0.63 NA 1.768449 1483 3 140282084 140282084 C G intronic CLSTN2 NA NA NA intronic ENSG00000158258 NA NA NA NA NA 3q23 NA NA NA NA rs4683509 0.47 0.47 0.478 0.456869 0.7753 0.1032 0.5778 0.3759 0.5174 0.76 0.09 0.6 0.38 0.6586 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 0.051813 NA NA 0.79814 0.454153 NA 0.522 NA 1.76796 1483 10 135076596 135076596 T C UTR3 ADAM8 NM_001164489:c.*143A>G,NM_001109:c.*64A>G,NM_001164490:c.*64A>G NA NA UTR3 ENSG00000151651 ENST00000445355:c.*64A>G,ENST00000415217:c.*143A>G,ENST00000485491:c.*64A>G NA NA NA NA 10q26.3 NA NA NA NA rs2230576 0.77 0.77 0.73 0.737021 0.8698 0.9137 0.7594 0.4153 0.8374 0.87 0.92 0.76 0.44 0.8298 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 -0.15539 NA NA 0.865814 0.452565 NA 0.703 NA 1.7679194 1483 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 1483 11 47204175 47204175 A T intronic PACSIN3 NA NA NA intronic ENSG00000165912 NA NA NA NA NA 11p11.2 NA NA NA NA rs2279438 0.63 0.63 0.631 0.666534 0.7634 0.3294 0.6844 0.7821 0.7454 0.75 0.35 0.69 0.74 0.7044 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 0.36299 NA NA 0.764658 0.757837 NA 0.797 NA 1.767542 1483 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 1483 14 92922713 92922713 T C intronic SLC24A4 NA NA NA intronic ENSG00000140090 NA NA NA NA NA 14q32.12 NA NA NA NA rs7158400 0.75 0.75 0.761 0.75599 0.7465 0.6815 0.6383 0.9009 0.7301 0.74 0.68 0.7 0.9 0.7286 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 -0.757 NA NA 0.75814 0.882433 NA 0.79 NA 1.76676 1483 12 8693333 8693333 G A intronic CLEC4E NA NA NA intronic ENSG00000166523 NA NA NA NA NA 12p13.31 NA NA NA NA rs4620776 0.71 0.71 0.72 0.729633 0.7465 0.631 0.6282 0.8472 0.727 0.75 0.64 0.62 0.8 0.7339 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 0.082905 NA NA 0.753023 0.817068 NA 0.841 NA 1.766577 1483 17 8168805 8168805 A G intronic PFAS NA NA NA intronic ENSG00000178921 NA NA NA NA NA 17p13.1 NA NA NA NA rs9897842 0.56 0.56 0.549 0.547923 0.7893 0.2768 0.5908 0.5454 0.5521 0.8 0.27 0.61 0.5 0.6706 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 -1.096706 NA NA 0.773605 0.584203 NA 0.601 NA 1.766495 1483 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 1483 19 17612251 17612251 T C intronic SLC27A1 NA NA NA ncRNA_intronic ENSG00000269439 NA NA NA NA NA 19p13.11 NA NA NA NA rs11668681 0.72 0.72 0.722 0.682508 0.8807 0.371 0.6859 0.8245 0.6053 0.89 0.38 0.74 0.83 0.788 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 -0.213751 NA NA 0.89907 0.828416 NA 0.804 NA 1.7655633 1483 17 1715435 1715435 G A intronic SMYD4 NA NA NA intronic ENSG00000186532 NA NA NA NA NA 17p13.3 NA NA NA NA rs7503422 0.65 0.65 0.668 0.602236 0.7654 0.4593 0.5 0.7269 0.4857 0.76 0.49 0.59 0.7 0.6773 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 -0.145532 NA NA 0.791744 0.754199 NA 0.732 NA 1.765556 1483 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 1484 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 1484 6 52998834 52998834 C T intronic GCM1 NA NA NA intronic ENSG00000137270 NA NA NA NA NA 6p12.1 NA NA NA NA rs2816345 0.72 0.72 0.7 0.71845 0.7406 0.5833 0.8084 0.7458 0.7342 0.75 0.59 0.79 0.76 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 0.585343 NA NA 0.746628 0.726282 NA 0.783 NA 1.763172 1484 3 182575631 182575631 G T intronic ATP11B NA NA NA intronic ENSG00000058063 NA NA NA NA NA 3q26.33 NA NA NA NA rs661774 0.64 0.64 0.62 0.647165 0.7604 0.4583 0.7118 0.6309 0.7014 0.77 0.45 0.7 0.59 0.7087 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 0.158938 NA NA 0.768683 0.663919 NA 0.71 NA 1.762217 1484 17 74922636 74922636 G A intronic MGAT5B NA NA NA intronic ENSG00000167889 NA NA NA NA NA 17q25.2 NA NA NA NA rs12450749 0.7 0.7 0.661 0.674321 0.7694 0.7639 0.7435 0.5166 0.6483 0.76 0.73 0.73 0.55 0.7226 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 0.410377 NA NA 0.746847 0.571852 NA 0.638 NA 1.761153 1484 8 87155094 87155094 T C intronic ATP6V0D2 NA NA NA ncRNA_intronic ENSG00000253675 NA NA NA NA NA 8q21.3 NA NA NA NA rs1483779 0.86 0.86 0.855 0.851438 0.8688 0.8571 0.7478 0.9244 0.8027 0.86 0.88 0.75 0.94 0.8416 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 1.399186 1.399186 NA 0.862747 0.902633 NA 0.884 NA 1.7601863 1484 1 156875097 156875097 G A intronic PEAR1 NA NA NA intronic ENSG00000187800 NA NA NA NA NA 1q23.1 NA NA NA NA rs4661075 0.51 0.51 0.48 0.442492 0.7992 0.245 0.585 0.2595 0.4254 0.81 0.23 0.65 0.25 0.6444 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 -1.214688 NA NA 0.796395 0.323423 NA 0.493 NA 1.760005 1484 5 101592809 101592809 T A intronic SLCO4C1 NA NA NA intronic ENSG00000173930 NA NA NA NA NA 5q21.1 NA NA NA NA rs261101 0.75 0.75 0.746 0.75639 0.7734 0.7173 0.7896 0.7912 0.7086 0.76 0.67 0.81 0.78 0.7403 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 -0.515295 NA NA 0.72686 0.766682 NA 0.833 NA 1.75944 1484 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 1484 19 44896487 44896487 G C intronic ZNF285 NA NA NA UTR3 ENSG00000267508 ENST00000589738:c.*9C>G NA NA NA NA 19q13.31 NA NA NA NA rs2571123 0.52 0.52 0.499 0.510184 0.8479 0.251 0.5764 0.2897 0.681 0.85 0.23 0.61 0.29 0.7118 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 1.315832 1.315832 NA 0.847791 0.408988 NA 0.507 NA 1.7591757 1484 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 1484 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 1484 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 1484 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 1484 11 46897995 46897995 G T intronic LRP4 NA NA NA intronic ENSG00000134569 NA NA NA NA NA 11p11.2 NA NA NA NA rs964551 0.58 0.58 0.567 0.580471 0.7863 0.3889 0.6542 0.3979 0.7607 0.77 0.42 0.64 0.43 0.6848 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 0.566655 NA NA 0.771575 0.442753 NA 0.667 NA 1.757325 1484 12 51399050 51399050 T G intronic SLC11A2 NA NA NA intronic ENSG00000110911 NA NA NA NA NA 12q13.12 NA NA NA NA rs224589 0.76 0.76 0.745 0.735423 0.7495 0.873 0.8242 0.6513 0.6299 0.75 0.86 0.81 0.62 0.755 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 0.428217 NA NA 0.739419 0.67862 NA 0.79 NA 1.756081 1484 8 71550058 71550058 G C ncRNA_UTR3 LACTB2 NA NA NA UTR3 ENSG00000147592 ENST00000522447:c.*37C>G,ENST00000276590:c.*37C>G NA NA NA NA 8q13.3 NA NA NA NA rs268571 0.82 0.82 0.864 0.82528 0.9344 0.6935 0.6888 0.8873 0.862 0.94 0.69 0.71 0.88 0.8748 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 -1.026032 NA NA 0.934991 0.893036 ID=COSN168347;OCCURENCE=1(large_intestine) 0.92 NA 1.755809 1484 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 1485 4 100048327 100048327 G A ncRNA_intronic LOC100507053 NA NA NA ncRNA_intronic ENSG00000246090 NA NA NA NA NA 4q23 NA NA NA NA rs9307234 0.96 0.96 0.973 0.964058 0.9742 0.999 0.9438 0.9297 0.9785 0.97 1 0.95 0.91 0.9657 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.392604 NA NA 0.971854 0.932107 NA 0.355 NA 1.7549126 1485 4 100048506 100048506 G A ncRNA_intronic LOC100507053 NA NA NA ncRNA_intronic ENSG00000246090 NA NA NA NA NA 4q23 NA NA NA NA rs6836440 0.96 0.96 0.971 0.964058 0.9742 0.999 0.9438 0.9297 0.9785 0.97 1 0.95 0.91 0.9657 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.074114 NA NA 0.972093 0.932819 NA 0.964 NA 1.7546736 1485 11 125766204 125766204 G C UTR5 PUS3 NM_031307:c.-25C>G NA NA UTR5 ENSG00000110060 ENST00000227474:c.-25C>G,ENST00000530811:c.-25C>G,ENST00000534158:c.-25C>G,ENST00000529801:c.-25C>G NA NA NA NA 11q24.2 NA NA NA NA rs600761 0.81 0.81 0.79 0.795327 0.8559 0.8542 0.8818 0.612 0.8589 0.85 0.88 0.89 0.61 0.8541 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 -1.992776 NA NA 0.86869 0.652885 NA 0.797 NA 1.7546434 1485 11 125766207 125766207 C T UTR5 PUS3 NM_031307:c.-28G>A NA NA UTR5 ENSG00000110060 ENST00000227474:c.-28G>A,ENST00000530811:c.-28G>A,ENST00000534158:c.-28G>A,ENST00000529801:c.-28G>A NA NA NA NA 11q24.2 NA NA NA NA rs471980 0.81 0.81 0.788 0.795327 0.8559 0.8542 0.8818 0.612 0.8589 0.85 0.88 0.89 0.61 0.8539 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 -0.741891 NA NA 0.868923 0.652885 NA 0.797 NA 1.7546104 1485 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 1485 17 71418605 71418605 T C intronic SDK2 NA NA NA intronic ENSG00000069188 NA NA NA NA NA 17q25.1 NA NA NA NA rs9894213 0.62 0.62 0.607 0.60623 0.7664 0.2361 0.7882 0.7209 0.5389 0.76 0.26 0.8 0.68 0.6982 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 1.207942 NA NA 0.783023 0.736496 NA 0.717 NA 1.752377 1485 17 78223103 78223103 C A intronic SLC26A11 NA NA NA intronic ENSG00000181045 NA NA NA NA NA 17q25.3 NA NA NA NA rs8064518 0.79 0.79 0.771 0.798522 0.7167 0.994 0.8271 0.6475 0.865 0.73 1 0.8 0.62 0.7792 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.374002 NA NA 0.751744 0.652065 NA 0.739 NA 1.752356 1485 5 434981 434981 G C UTR3 AHRR NM_001242412:c.*32G>C,NM_020731:c.*32G>C NA NA UTR3 ENSG00000063438 ENST00000316418:c.*32G>C,ENST00000512529:c.*32G>C,ENST00000506456:c.*32G>C NA NA NA NA 5p15.33 NA NA NA NA rs2672725 0.76 0.76 0.75 0.768171 0.8658 0.5794 0.7954 0.8389 0.7474 0.86 0.54 0.81 0.82 0.8314 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 -0.003197 NA NA 0.883926 0.860142 NA 0.819 NA 1.7522074 1485 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 1485 14 105356137 105356137 G C intronic CEP170B NA NA NA intronic ENSG00000099814 NA NA NA NA NA 14q32.33 NA NA NA NA rs2919629 0.55 0.55 0.536 0.564696 0.7763 0.2262 0.6527 0.5492 0.6544 0.77 0.2 0.66 0.55 0.688 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 0.452313 NA NA 0.784072 0.594993 NA 0.609 NA 1.751628 1485 10 95276673 95276673 G A intronic CEP55 NA NA NA intronic ENSG00000138180 NA NA NA NA NA 10q23.33 NA NA NA NA rs4919224 0.68 0.68 0.674 0.66853 0.7485 0.5288 0.7176 0.6626 0.7035 0.76 0.57 0.76 0.65 0.7381 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 -0.643071 NA NA 0.762093 0.703451 NA 0.652 NA 1.751307 1485 2 241659368 241659368 C A intronic KIF1A NA NA NA intronic ENSG00000130294 NA NA NA NA NA 2q37.3 NA NA NA NA rs6437368 0.81 0.81 0.804 0.820088 0.7376 0.9206 0.781 0.848 0.7914 0.75 0.92 0.76 0.83 0.7736 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 -0.764452 NA NA 0.73785 0.834422 NA 0.797 NA 1.75095 1485 11 244414 244414 C T intronic PSMD13 NA NA NA intronic ENSG00000185627 NA NA NA NA NA 11p15.5 NA NA NA NA rs2272565 0.81 0.81 0.815 0.815296 0.7306 0.8036 0.83 0.8918 0.8006 0.73 0.82 0.81 0.89 0.7764 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 3.537802 3.537802 NA 0.742093 0.882206 NA 0.848 NA 1.750907 1485 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 1485 2 188216807 188216807 T C intronic CALCRL NA NA NA ncRNA_intronic ENSG00000224063 NA NA NA NA NA 2q32.1 NA NA NA NA rs858745 0.85 0.85 0.855 0.826677 0.8648 0.753 0.8026 0.9115 0.7658 0.87 0.75 0.84 0.93 0.8469 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 0.25753 NA NA 0.871017 0.901952 NA 0.848 NA 1.7506163 1485 1 177930894 177930894 C T intronic SEC16B NA NA NA intronic ENSG00000120341,ENSG00000254154 NA NA NA NA NA 1q25.2 NA NA NA NA rs945641 0.79 0.79 0.791 0.799121 0.7376 0.7718 0.7839 0.8933 0.774 0.74 0.77 0.79 0.9 0.757 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 -0.607458 NA NA 0.755162 0.870798 NA 0.819 NA 1.750238 1485 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 1485 17 74922652 74922652 C T intronic MGAT5B NA NA NA intronic ENSG00000167889 NA NA NA NA NA 17q25.2 NA NA NA NA rs11653088 0.7 0.7 0.672 0.674321 0.7694 0.7639 0.7435 0.5166 0.6483 0.76 0.73 0.73 0.55 0.7328 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 1.951331 1.951331 NA 0.748893 0.571494 NA 0.638 NA 1.748907 1485 16 837310 837310 A G intronic RPUSD1 NA NA NA intronic ENSG00000007376 NA NA NA NA NA 16p13.3 NA NA NA NA rs531278 0.84 0.84 0.861 0.878195 0.7207 0.998 0.7478 0.9826 0.8681 0.7 1 0.71 0.98 0.7917 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.413372 NA NA 0.740028 0.940932 NA 0.746 NA 1.747572 1485 11 68456410 68456410 T C intronic GAL NA NA NA intronic ENSG00000069482 NA NA NA NA NA 11q13.3 NA NA NA NA rs3136540 0.74 0.74 0.731 0.73762 0.7604 0.8631 0.7695 0.5802 0.7751 0.77 0.85 0.71 0.6 0.7632 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 -0.237437 NA NA 0.730787 0.609091 NA 0.696 NA 1.745613 1486 12 121248584 121248584 G A intronic SPPL3 NA NA NA intronic ENSG00000157837 NA NA NA NA NA 12q24.31 NA NA NA NA rs674021 0.83 0.83 0.836 0.869209 0.7376 0.8839 0.8401 0.9546 0.8947 0.74 0.87 0.82 0.94 0.7917 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 1.108061 NA NA 0.725814 0.914208 NA 0.826 NA 1.744886 1486 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 1486 10 45924256 45924256 T C intronic ALOX5 NA NA NA intronic ENSG00000012779 NA NA NA NA NA 10q11.21 NA NA NA NA rs1565097 0.78 0.78 0.778 0.746206 0.7654 0.8105 0.7781 0.7769 0.5961 0.77 0.79 0.77 0.79 0.7479 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 -0.887291 NA NA 0.743372 0.77054 NA 0.746 NA 1.743328 1486 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 1486 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 1486 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 1486 16 1859730 1859730 G A intronic HAGH NA NA NA intronic ENSG00000063854 NA NA NA NA NA 16p13.3 NA NA NA NA rs2745199 0.74 0.74 0.723 0.710264 0.7455 0.7024 0.7406 0.7209 0.6462 0.75 0.72 0.79 0.71 0.7399 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 -0.248835 NA NA 0.773023 0.734197 NA 0.688 NA 1.741577 1486 14 96131432 96131432 A G ncRNA_intronic TCL6 NA NA NA ncRNA_intronic ENSG00000187621,ENSG00000259084 NA NA NA NA NA 14q32.13 NA NA NA NA rs1743491 0.92 0.92 0.934 0.930511 0.9861 0.8284 0.7882 0.997 0.9898 0.98 0.81 0.85 0.99 0.9557 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 -0.584675 NA NA 0.983372 0.993645 NA 0.906 NA 1.7414946 1486 8 143603318 143603318 C T intronic BAI1 NA NA NA intronic ENSG00000181790 NA NA NA NA NA 8q24.3 NA NA NA NA rs7462471 0.57 0.57 0.566 0.547724 0.7475 0.6032 0.6196 0.2103 0.6902 0.75 0.6 0.61 0.22 0.7479 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 -0.207202 NA NA 0.763496 0.314542 NA 0.572 NA 1.741104 1486 2 206036918 206036918 C T intronic PARD3B NA NA NA intronic ENSG00000116117 NA NA NA NA NA 2q33.3 NA NA NA NA rs736320 0.71 0.71 0.714 0.710663 0.7674 0.6111 0.6974 0.8116 0.6278 0.76 0.58 0.7 0.8 0.7231 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 0.167302 NA NA 0.768613 0.798366 ID=COSN166387;OCCURENCE=1(large_intestine) 0.833 NA 1.740887 1486 1 47398743 47398743 G C intronic CYP4A11 NA NA NA intronic ENSG00000187048 NA NA NA NA NA 1p33 NA NA NA NA rs3890011 0.59 0.59 0.554 0.571486 0.7763 0.496 0.683 0.3449 0.6656 0.77 0.49 0.7 0.33 0.7019 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 -1.060126 NA NA 0.781047 0.424194 NA 0.616 NA 1.740753 1486 17 41955158 41955158 A G UTR3 MPP2 NM_005374:c.*17T>C NA NA UTR3 ENSG00000108852 ENST00000269095:c.*17T>C,ENST00000377184:c.*17T>C,ENST00000461854:c.*17T>C,ENST00000520305:c.*17T>C,ENST00000523501:c.*17T>C,ENST00000536246:c.*17T>C,ENST00000518766:c.*17T>C NA NA NA NA 17q21.31 NA NA NA NA rs231521 0.91 0.91 0.903 0.910743 0.8429 1 0.9294 0.8873 0.907 0.85 1 0.9 0.9 0.8875 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.794369 NA NA 0.862442 0.86995 NA 0.957 NA 1.7404914 1486 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 1486 3 121265176 121265176 G A upstream POLQ NA NA NA upstream ENSG00000051341 NA NA NA NA NA 3q13.33 NA NA NA NA rs3806614 0.67 0.67 0.659 0.695887 0.6163 0.875 0.6326 0.5408 0.8476 0.61 0.89 0.62 0.52 0.6786 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 -0.100601 NA NA 0.631843 0.561644 NA 0.601 NA 1.7399236 1486 11 15170644 15170644 T C intronic INSC NA NA NA intronic ENSG00000188487 NA NA NA NA NA 11p15.2 NA NA NA NA rs1714354 0.59 0.59 0.6 0.642173 0.7425 0.2421 0.7133 0.7799 0.7147 0.72 0.2 0.72 0.74 0.7253 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 0.70722 NA NA 0.793019 0.810101 NA 0.725 NA 1.739181 1486 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 1486 12 3131206 3131206 T C intronic TEAD4 NA NA NA intronic ENSG00000197905 NA NA NA NA NA 12p13.33 NA NA NA NA rs3741952 0.68 0.68 0.648 0.658746 0.7465 0.9425 0.7983 0.2231 0.7658 0.74 0.93 0.77 0.24 0.7439 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 1.474776 1.474776 NA 0.772093 0.294371 NA 0.58 NA 1.737507 1486 7 100552915 100552915 A C intergenic ACHE,MUC12 dist=59374;dist=59989 NA NA exonic ENSG00000169894 NA synonymous SNV ENSG00000169894:ENST00000414964:exon1:c.A30C:p.G10G,ENSG00000169894:ENST00000422757:exon1:c.A30C:p.G10G,ENSG00000169894:ENST00000319509:exon2:c.A1560C:p.G520G NA NA 7q22.1 NA NA NA NA rs2904852 0.96 0.96 0.961 0.958267 0.9155 0.999 0.9424 0.9834 0.9376 0.92 1 0.95 1 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 0.081518 NA NA 0.914114 0.9629 NA 0.971 NA 1.737286 1486 16 1859850 1859850 A G intronic HAGH NA NA NA intronic ENSG00000063854 NA NA NA NA NA 16p13.3 NA NA NA NA rs1742442 0.74 0.74 0.724 0.721845 0.7475 0.7034 0.7435 0.7617 0.6452 0.75 0.72 0.79 0.74 0.7432 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 -1.121293 NA NA 0.773023 0.7608 NA 0.739 NA 1.736277 1486 19 16301312 16301312 A G intronic FAM32A NA NA NA intronic ENSG00000105058 NA NA NA NA NA 19p13.11 NA NA NA NA rs206231 0.69 0.69 0.672 0.691494 0.7555 0.6548 0.7939 0.5893 0.729 0.75 0.62 0.76 0.61 0.7559 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 -1.474587 NA NA 0.752326 0.629142 NA 0.645 NA 1.736274 1486 16 16291858 16291858 G C intronic ABCC6 NA NA NA intronic ENSG00000091262 NA NA NA NA NA 16p13.11 NA NA NA NA rs12929920 0.76 0.76 0.694 0.73143 0.7296 0.9107 0.7997 0.5 0.8129 0.77 0.91 0.8 0.56 0.7779 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 -0.887072 NA NA 0.757209 0.510246 NA 0.565 NA 1.735291 1486 19 33467620 33467620 T C UTR3 C19orf40 NM_152266:c.*32T>C NA NA UTR3 ENSG00000131944 ENST00000254262:c.*412T>C,ENST00000589646:c.*32T>C,ENST00000588258:c.*32T>C,ENST00000590179:c.*32T>C,ENST00000590281:c.*32T>C NA NA NA NA 19q13.11 NA NA NA NA rs7247715 0.92 0.92 0.91 0.936701 0.8519 0.9385 0.928 0.9902 0.956 0.86 0.95 0.93 0.99 0.8929 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 -0.222884 NA NA 0.853372 0.970041 NA 0.928 NA 1.7351614 1487 11 99941322 99941322 C T intronic CNTN5 NA NA NA intronic ENSG00000149972 NA NA NA NA NA 11q22.1 NA NA NA NA rs2059014 0.87 0.87 0.873 0.890974 0.7346 0.994 0.7651 0.9871 0.9049 0.74 0.99 0.78 0.98 0.7932 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 0.295989 NA NA 0.73747 0.944503 NA 0.797 NA 1.73473 1487 1 38423853 38423853 G C UTR3 SF3A3 NM_006802:c.*5C>G NA NA UTR3 ENSG00000183431 ENST00000373019:c.*5C>G,ENST00000448721:c.*5C>G NA NA NA NA 1p34.3 NA NA NA NA rs9293 0.93 0.93 0.93 0.922125 0.8479 1 0.9121 0.9766 0.8517 0.86 1 0.9 0.97 0.8891 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.678685 1.678685 NA 0.862442 0.963913 NA 0.913 NA 1.7338914 1487 11 118074117 118074117 A G intronic AMICA1 NA NA NA intronic ENSG00000160593 NA NA NA NA NA 11q23.3 NA NA NA NA rs1793173 0.78 0.78 0.783 0.801917 0.7356 0.6736 0.7954 0.9244 0.8415 0.74 0.7 0.78 0.92 0.7723 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 -0.878187 NA NA 0.758496 0.902727 ID=COSN164059;OCCURENCE=1(NS) 0.855 NA 1.733604 1487 17 39983644 39983644 A C intronic NT5C3B NA NA NA intronic ENSG00000141698 NA NA NA NA NA 17q21.2 NA NA NA NA rs9896766 0.77 0.77 0.776 0.786142 0.7296 0.8323 0.8646 0.7526 0.7863 0.72 0.83 0.84 0.75 0.777 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 0.39378 NA NA 0.760233 0.761235 NA 0.826 NA 1.733167 1487 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 1487 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 1487 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 1487 16 57991317 57991317 C T intronic CNGB1 NA NA NA intronic ENSG00000070729 NA NA NA NA NA 16q21 NA NA NA NA rs503686 0.68 0.68 0.644 0.645367 0.7594 0.8204 0.8026 0.3026 0.6994 0.77 0.84 0.8 0.29 0.7459 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 0.417768 NA NA 0.765121 0.407343 NA 0.681 NA 1.729579 1487 15 54008795 54008795 T C intronic WDR72 NA NA NA intronic ENSG00000166415 NA NA NA NA NA 15q21.3 NA NA NA NA rs690337 0.72 0.72 0.741 0.749201 0.7505 0.7302 0.7334 0.7352 0.7975 0.75 0.72 0.73 0.68 0.7469 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 -0.10707 NA NA 0.773235 0.728122 NA 0.71 NA 1.729365 1487 22 21349037 21349037 A G intronic LZTR1 NA NA NA intronic ENSG00000099949 NA NA NA NA NA 22q11.21 NA NA NA NA rs178292 0.79 0.79 0.778 0.752196 0.7505 0.7004 0.8573 0.8949 0.5399 0.75 0.73 0.84 0.9 0.7544 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 -1.517608 NA NA 0.765821 0.875795 NA 0.761 NA 1.729279 1487 1 150990825 150990825 A G intronic PRUNE NA NA NA intronic ENSG00000143363 NA NA NA NA NA 1q21.3 NA NA NA NA rs3738480 0.77 0.77 0.787 0.778954 0.7644 0.88 0.6268 0.7247 0.8712 0.76 0.88 0.67 0.71 0.7637 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 0.218802 NA NA 0.742843 0.702626 NA 0.826 NA 1.729057 1487 22 23540609 23540609 A G intronic BCR NA NA NA intronic ENSG00000186716 NA NA NA NA NA 22q11.23 NA NA NA NA rs4822371 0.84 0.84 0.847 0.836661 0.7435 0.9871 0.8329 0.8404 0.7751 0.75 0.99 0.79 0.84 0.791 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 0.076531 NA NA 0.736816 0.8379 NA 0.877 NA 1.728684 1487 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 1487 2 149520214 149520214 C A intronic EPC2 NA NA NA intronic ENSG00000135999 NA NA NA NA NA 2q23.1 NA NA NA NA rs10193313 0.58 0.58 0.552 0.52476 0.7783 0.3998 0.5504 0.3918 0.5542 0.81 0.41 0.59 0.41 0.7059 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 0.176258 NA NA 0.788542 0.476545 NA 0.616 NA 1.727258 1487 1 36563158 36563158 C A UTR3 COL8A2 NM_005202:c.*12G>T NA NA UTR3 ENSG00000171812 ENST00000397799:c.*12G>T,ENST00000303143:c.*12G>T,ENST00000481785:c.*12G>T NA NA NA NA 1p34.3 NA NA NA NA rs3738360 0.65 0.65 0.648 0.65635 0.8976 0.5218 0.611 0.4365 0.8763 0.9 0.49 0.65 0.44 0.8004 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 1.844405 1.844405 NA 0.908256 0.54108 NA 0.696 NA 1.7270774 1487 1 117957288 117957288 A G intronic MAN1A2 NA NA NA intronic ENSG00000198162 NA NA NA NA NA 1p12 NA NA NA NA rs1289948 0.73 0.73 0.739 0.764776 0.7555 0.624 0.6744 0.8888 0.816 0.74 0.6 0.67 0.88 0.7532 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 -0.811923 NA NA 0.764384 0.86901 NA 0.667 NA 1.726916 1487 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 1487 3 46717931 46717931 T C intronic ALS2CL NA NA NA intronic ENSG00000178038 NA NA NA NA NA 3p21.31 NA NA NA NA rs6808525 0.76 0.76 0.744 0.782748 0.7525 0.6974 0.7968 0.8434 0.8098 0.74 0.68 0.8 0.83 0.7711 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 0.648273 NA NA 0.75093 0.810259 NA 0.783 NA 1.72547 1487 14 22237127 22237127 C T intergenic OR4E2,DAD1 dist=102889;dist=796680 NA NA exonic ENSG00000211780 NA synonymous SNV ENSG00000211780:ENST00000390428:exon2:c.C204T:p.S68S NA NA 14q11.2 NA NA NA NA rs760008 0.95 0.95 0.944 0.947684 0.9354 0.998 0.9323 0.9138 0.9652 0.94 0.99 0.94 0.9 0.9275 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 -0.152243 NA NA 0.9121 0.91741 NA 0.942 NA 1.725 1488 17 1968983 1968983 T C intronic SMG6 NA NA NA intronic ENSG00000070366 NA NA NA NA NA 17p13.3 NA NA NA NA rs2232486 0.83 0.83 0.822 0.823482 0.7445 0.9306 0.8689 0.8699 0.6994 0.74 0.92 0.85 0.85 0.7794 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 1.929098 1.929098 NA 0.751628 0.83931 NA 0.768 NA 1.724472 1488 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 1488 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 1488 13 47279454 47279454 A G intronic LRCH1 NA NA NA intronic ENSG00000136141 NA NA NA NA NA 13q14.13 NA NA NA NA rs842387 0.82 0.82 0.814 0.832468 0.7704 0.8363 0.7911 0.9304 0.7894 0.76 0.82 0.78 0.94 0.7649 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 0.478439 NA NA 0.741395 0.888334 NA 0.783 NA 1.723305 1488 16 69965024 69965024 A T intronic WWP2 NA NA NA intronic ENSG00000198373 NA NA NA NA NA 16q22.1 NA NA NA NA rs2270840 0.85 0.85 0.859 0.860024 0.7555 0.9683 0.7536 0.9607 0.7955 0.74 0.97 0.8 0.94 0.7796 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 -0.005357 NA NA 0.742209 0.910601 NA 0.79 NA 1.722691 1488 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 1488 10 45924023 45924023 G A intronic ALOX5 NA NA NA intronic ENSG00000012779 NA NA NA NA NA 10q11.21 NA NA NA NA rs1565096 0.82 0.82 0.83 0.791733 0.7654 0.8095 0.8127 0.9198 0.6125 0.77 0.79 0.8 0.95 0.7651 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 -0.798292 NA NA 0.747791 0.903768 NA 0.739 NA 1.721709 1488 5 131322494 131322494 C T intronic ACSL6 NA NA NA intronic ENSG00000164398 NA NA NA NA NA 5q31.1 NA NA NA NA rs77938 0.53 0.53 0.498 0.515974 0.7704 0.4266 0.5908 0.1687 0.7628 0.76 0.45 0.62 0.2 0.7064 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 0.848428 NA NA 0.801512 0.257376 NA 0.478 NA 1.721688 1488 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 1488 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 1488 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 1488 2 208986385 208986385 A G ncRNA_UTR3 CRYGD NA NA NA UTR3 ENSG00000118231 ENST00000264376:c.*12T>C NA NA NA NA 2q33.3 NA NA NA NA rs2305429 0.83 0.83 0.836 0.811701 0.9533 0.6141 0.7997 0.907 0.7495 0.96 0.62 0.82 0.9 0.8792 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 -1.043302 NA NA 0.946279 0.919428 NA 0.87 NA 1.721221 1488 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 1488 3 111923047 111923047 G A intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA NA NA 3q13.2 NA NA NA NA rs4422273 0.81 0.81 0.799 0.830272 0.7326 0.9891 0.8473 0.6974 0.9346 0.74 0.99 0.8 0.71 0.7944 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 0.129352 NA NA 0.753289 0.711857 NA 0.768 NA 1.719711 1488 19 51530693 51530693 G A intronic KLK11 NA NA NA intronic ENSG00000167757 NA NA NA NA NA 19q13.41 NA NA NA NA rs1474520 0.77 0.77 0.78 0.741414 0.7783 0.9623 0.6585 0.6551 0.6513 0.78 0.95 0.65 0.65 0.7448 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 -0.639634 NA NA 0.757209 0.663414 NA 0.638 NA 1.719691 1488 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 1488 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 1488 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 1488 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 1488 1 78024284 78024284 T C intronic AK5 NA NA NA intronic ENSG00000154027 NA NA NA NA NA 1p31.1 NA NA NA NA rs6675743 0.72 0.72 0.681 0.685304 0.7614 0.7411 0.8357 0.5401 0.6391 0.77 0.72 0.83 0.56 0.7462 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 0.41693 NA NA 0.776279 0.600772 NA 0.696 NA 1.716121 1488 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 1489 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 1489 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 1489 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 1489 14 24975509 24975509 T C intronic CMA1 NA NA NA intronic ENSG00000092009,ENSG00000258744 NA NA NA NA NA 14q12 NA NA NA NA rs1885108 0.66 0.66 0.634 0.623203 0.7664 0.629 0.7421 0.388 0.7035 0.78 0.63 0.73 0.48 0.7322 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 2.898114 2.898114 NA 0.788372 0.458466 NA 0.674 NA 1.713028 1489 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 1489 17 7402556 7402556 G A intronic POLR2A NA NA NA intronic ENSG00000181222 NA NA NA NA NA 17p13.1 NA NA NA NA rs2277638 0.77 0.77 0.73 0.738019 0.7734 0.9236 0.8703 0.5537 0.6656 0.77 0.91 0.87 0.53 0.7572 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 0.077868 NA NA 0.756744 0.603949 NA 0.667 NA 1.712656 1489 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 1489 19 15508130 15508130 G A intronic AKAP8L NA NA NA intronic ENSG00000011243 NA NA NA NA NA 19p13.12 NA NA NA NA rs7247749 0.85 0.85 0.834 0.832468 0.7356 0.995 0.8588 0.8101 0.7761 0.74 1 0.85 0.85 0.7889 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.024052 NA NA 0.762963 0.831121 NA 0.841 NA 1.712537 1489 12 52964417 52964417 A G intronic KRT74 NA NA NA intronic ENSG00000170484 NA NA NA NA NA 12q13.13 NA NA NA NA rs657102 0.78 0.78 0.797 0.819888 0.7614 0.7173 0.6902 0.9909 0.8466 0.76 0.71 0.69 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 -0.130952 NA NA 0.764535 0.953473 NA 0.725 NA 1.712065 1489 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 1489 3 111993716 111993716 G A intronic SLC9C1 NA NA NA intronic ENSG00000172139 NA NA NA NA NA 3q13.2 NA NA NA NA rs6805112 0.82 0.82 0.804 0.846845 0.7366 0.9891 0.8545 0.7534 0.9346 0.74 0.99 0.81 0.75 0.7955 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 0.342799 NA NA 0.756231 0.761079 NA 0.746 NA 1.711669 1489 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 1489 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 1489 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 1489 17 7412212 7412212 A G intronic POLR2A NA NA NA intronic ENSG00000181222 NA NA NA NA NA 17p13.1 NA NA NA NA rs9889368 0.77 0.77 0.731 0.724641 0.7734 0.9722 0.8602 0.4667 0.6718 0.77 0.97 0.86 0.47 0.7569 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 0.481574 NA NA 0.76 0.526101 NA 0.609 NA 1.7097 1489 17 40025264 40025264 G T intronic ACLY NA NA NA intronic ENSG00000131473 NA NA NA NA NA 17q21.2 NA NA NA NA rs9912300 0.76 0.76 0.764 0.777356 0.7386 0.8313 0.8646 0.7012 0.8027 0.73 0.83 0.84 0.69 0.7819 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 -0.73705 NA NA 0.77 0.723105 NA 0.783 NA 1.7095 1489 17 40028450 40028450 A T intronic ACLY NA NA NA intronic ENSG00000131473 NA NA NA NA NA 17q21.2 NA NA NA NA rs8071627 0.76 0.76 0.755 0.777356 0.7386 0.8313 0.8646 0.7012 0.8027 0.73 0.83 0.84 0.69 0.7819 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 0.183788 NA NA 0.770116 0.724694 NA 0.783 NA 1.709384 1489 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 1489 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 1490 1 87036746 87036746 C A intronic CLCA4 NA NA NA intronic ENSG00000016602 NA NA NA NA NA 1p22.3 NA NA NA NA rs772599 0.85 0.85 0.86 0.864617 0.7525 0.9395 0.8617 0.8759 0.8896 0.76 0.96 0.85 0.87 0.8011 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 1.009174 NA NA 0.741802 0.859129 NA 0.913 NA 1.704598 1490 1 41107360 41107360 T C intronic RIMS3 NA NA NA intronic ENSG00000117016 NA NA NA NA NA 1p34.2 NA NA NA NA rs491619 0.73 0.73 0.748 0.697883 0.7833 0.5089 0.67 0.9266 0.5153 0.78 0.52 0.69 0.92 0.7278 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 -0.233342 NA NA 0.784419 0.902179 NA 0.819 NA 1.704481 1490 17 73489567 73489567 C G intronic KIAA0195 NA NA NA intronic ENSG00000177728 NA NA NA NA NA 17q25.1 NA NA NA NA rs4078474 0.61 0.61 0.591 0.591454 0.7714 0.4911 0.5245 0.444 0.7566 0.79 0.49 0.59 0.49 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 0.722237 NA NA 0.804302 0.539038 NA 0.688 NA 1.704398 1490 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 1490 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 1490 6 161502094 161502094 C T intronic MAP3K4 NA NA NA intronic ENSG00000085511 NA NA NA NA NA 6q26 NA NA NA NA rs9347479 0.86 0.86 0.887 0.890176 0.7465 0.995 0.7839 0.9592 0.9121 0.73 0.99 0.78 0.96 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 1.395989 1.395989 NA 0.742791 0.916704 NA 0.906 NA 1.702309 1490 17 71420035 71420035 T C intronic SDK2 NA NA NA intronic ENSG00000069188 NA NA NA NA NA 17q25.1 NA NA NA NA rs6501636 0.64 0.64 0.637 0.623602 0.7674 0.2847 0.817 0.7239 0.5521 0.76 0.31 0.81 0.72 0.7464 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 1.395828 1.395828 NA 0.784131 0.738377 NA 0.667 NA 1.702069 1490 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 1490 16 73126858 73126858 T G ncRNA_exonic HTA NA NA NA ncRNA_exonic ENSG00000260880 NA NA NA NA NA 16q22.3 NA NA NA NA rs7189194 0.99 0.99 0.998 0.996805 0.9911 1 0.9971 0.9992 0.9959 0.99 1 1 1 0.9909 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.396289 NA NA 0.984965 0.99719 NA 1 NA 1.6997016 1490 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 1490 11 7687669 7687669 A C intronic CYB5R2 NA NA NA intronic ENSG00000166394 NA NA NA NA NA 11p15.4 NA NA NA NA rs12796110 0.77 0.77 0.757 0.765176 0.7634 0.8165 0.6772 0.7731 0.7658 0.77 0.81 0.7 0.78 0.7667 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 -0.610191 NA NA 0.770484 0.782826 NA 0.717 NA 1.699416 1490 17 27002402 27002402 A G intronic SUPT6H NA NA NA intronic ENSG00000109111 NA NA NA NA NA 17q11.2 NA NA NA NA rs9892089 0.75 0.75 0.749 0.770966 0.7594 0.8343 0.7291 0.6551 0.9039 0.77 0.81 0.71 0.67 0.7662 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 -0.096033 NA NA 0.775349 0.678847 NA 0.79 NA 1.699051 1490 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 1490 17 73732810 73732810 A C intronic ITGB4 NA NA NA intronic ENSG00000132470 NA NA NA NA NA 17q25.1 NA NA NA NA rs820177 0.7 0.7 0.688 0.69349 0.7873 0.5972 0.7061 0.7383 0.6268 0.77 0.55 0.78 0.69 0.732 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 1.014781 NA NA 0.78232 0.753415 NA 0.703 NA 1.69838 1490 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 1490 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 1490 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 1490 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 1490 3 189604149 189604149 T G intronic TP63 NA NA NA intronic ENSG00000073282 NA NA NA NA NA 3q28 NA NA NA NA rs1554131 0.7 0.7 0.712 0.698882 0.7853 0.6071 0.5937 0.7413 0.7219 0.8 0.58 0.65 0.72 0.7226 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 -0.933126 NA NA 0.794535 0.748525 NA 0.79 NA 1.697565 1490 16 16291871 16291871 G C intronic ABCC6 NA NA NA intronic ENSG00000091262 NA NA NA NA NA 16p13.11 NA NA NA NA rs9940089 0.82 0.82 0.787 0.787939 0.7386 0.9425 0.8213 0.6687 0.817 0.79 0.94 0.82 0.72 0.7977 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 -1.140393 NA NA 0.766628 0.682294 NA 0.609 NA 1.697072 1490 6 31112899 31112899 C T intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA NA NA rs3094226 0.76 0.76 0.754 0.756789 0.7853 0.7083 0.8141 0.7322 0.7699 0.78 0.68 0.83 0.76 0.7615 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 0.095528 NA NA 0.756222 0.753921 NA 0.79 NA 1.696978 1490 3 189604160 189604160 T C intronic TP63 NA NA NA intronic ENSG00000073282 NA NA NA NA NA 3q28 NA NA NA NA rs1345186 0.7 0.7 0.725 0.699481 0.7853 0.6081 0.5965 0.7413 0.7219 0.8 0.58 0.65 0.72 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 0.665939 NA NA 0.794535 0.748525 NA 0.79 NA 1.696965 1490 6 31113106 31113106 A G intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA NA NA rs3130575 0.76 0.76 0.758 0.756789 0.7853 0.7083 0.8141 0.7322 0.7699 0.78 0.68 0.83 0.76 0.7604 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 0.751551 NA NA 0.757844 0.755129 NA 0.739 NA 1.696456 1490 20 43964407 43964407 G C intronic SDC4 NA NA NA intronic ENSG00000124145 NA NA NA NA NA 20q13.12 NA NA NA NA rs2072791 0.79 0.79 0.786 0.769369 0.7714 0.9554 0.7738 0.6316 0.7587 0.78 0.94 0.77 0.66 0.771 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 0.748753 NA NA 0.761279 0.663187 NA 0.725 NA 1.696321 1490 6 31112925 31112925 C T intronic CCHCR1 NA NA NA intronic ENSG00000204536 NA NA NA NA NA 6p21.33 NA NA NA NA rs2073719 0.76 0.76 0.747 0.756789 0.7853 0.7083 0.8141 0.7322 0.7699 0.78 0.68 0.83 0.76 0.7611 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 0.339706 NA NA 0.758029 0.753475 NA 0.768 NA 1.695571 1490 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 1490 15 64410484 64410484 G T intronic SNX1 NA NA NA intronic ENSG00000028528 NA NA NA NA NA 15q22.31 NA NA NA NA rs2290117 0.73 0.73 0.715 0.632188 0.8121 0.8125 0.6484 0.5144 0.409 0.82 0.8 0.68 0.54 0.703 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 0.629427 NA NA 0.789767 0.573536 NA 0.71 NA 1.695133 1491 6 32147761 32147761 T C ncRNA_intronic RNF5P1 NA NA NA intronic ENSG00000204308 NA NA NA NA NA 6p21.32 NA NA NA NA rs3134943 0.92 0.92 0.919 0.900359 0.8897 0.8562 0.8948 0.947 0.8978 0.89 0.92 0.93 0.95 0.8876 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 -1.337269 NA NA 0.861279 0.932365 NA 0.913 NA 1.6947543 1491 11 118359161 118359161 G A intronic MLL NA NA NA intronic ENSG00000118058 NA NA NA NA NA 11q23.3 NA NA NA NA rs572126 0.65 0.65 0.62 0.593051 0.7992 0.4127 0.8516 0.5038 0.5041 0.79 0.45 0.83 0.54 0.6858 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 0.873418 NA NA 0.820401 0.553357 NA 0.623 NA 1.694599 1491 6 166739684 166739684 G A intronic SFT2D1 NA NA NA intronic ENSG00000198818 NA NA NA NA NA 6q27 NA NA NA NA rs10806847 0.82 0.82 0.842 0.835663 0.7654 0.9524 0.7637 0.8268 0.8507 0.76 0.94 0.78 0.81 0.7836 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 -0.362164 NA NA 0.756512 0.807762 NA 0.87 NA 1.694488 1491 2 174068513 174068513 G C ncRNA_intronic MLK7-AS1 NA NA NA ncRNA_intronic ENSG00000238133 NA NA NA NA NA 2q31.1 NA NA NA NA rs11899707 0.98 0.98 0.977 0.983027 0.992 1 0.9813 0.9531 0.998 0.99 1 0.98 0.94 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 -0.262367 NA NA 0.989419 0.956423 NA 0.971 NA 1.6944476 1491 12 76786349 76786349 G A intronic OSBPL8 NA NA NA intronic ENSG00000091039 NA NA NA NA NA 12q21.2 NA NA NA NA rs4761423 0.84 0.84 0.828 0.850439 0.7654 0.9067 0.8746 0.8419 0.8742 0.78 0.92 0.87 0.82 0.7993 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 -0.980758 NA NA 0.741163 0.834544 NA 0.819 NA 1.694137 1491 19 58598784 58598784 A G intronic ZSCAN18 NA NA NA intronic ENSG00000121413 NA NA NA NA NA 19q13.43 NA NA NA NA rs2260914 0.73 0.73 0.745 0.748203 0.7674 0.621 0.7003 0.8094 0.8108 0.77 0.62 0.71 0.83 0.7624 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 -0.007108 NA NA 0.776328 0.7925 NA 0.652 NA 1.693872 1491 3 9069747 9069747 A G intronic SRGAP3 NA NA NA intronic ENSG00000196220 NA NA NA NA NA 3p25.3 NA NA NA NA rs416685 0.79 0.79 0.805 0.834265 0.7664 0.6974 0.8026 0.969 0.8855 0.77 0.7 0.77 0.96 0.775 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 0.218194 NA NA 0.76593 0.928507 NA 0.928 NA 1.69267 1491 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 1491 6 43399837 43399837 A G UTR5 ABCC10 NM_033450:c.-11A>G NA NA UTR5 ENSG00000124574 ENST00000244533:c.-11A>G NA NA NA NA 6p21.1 NA NA NA NA rs700008 0.88 0.88 0.885 0.884385 0.8738 0.9484 0.8141 0.857 0.9162 0.87 0.94 0.82 0.86 0.881 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 -0.360841 NA NA 0.886047 0.874262 NA 0.841 NA 1.6924864 1491 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 1491 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 1491 4 84240654 84240654 G A intronic HPSE NA NA NA intronic ENSG00000173083 NA NA NA NA NA 4q21.23 NA NA NA NA rs12501123 0.81 0.81 0.819 0.813498 0.7495 0.871 0.6772 0.8782 0.8292 0.77 0.85 0.73 0.87 0.7852 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 -0.787415 NA NA 0.773953 0.847708 NA 0.797 NA 1.691347 1491 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 1491 2 120830815 120830815 A G intronic EPB41L5 NA NA NA intronic ENSG00000115109 NA NA NA NA NA 2q14.2 NA NA NA NA rs3738970 0.66 0.66 0.652 0.623802 0.7952 0.6736 0.7147 0.4024 0.6309 0.78 0.67 0.74 0.41 0.7244 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 -0.297076 NA NA 0.790184 0.477531 NA 0.717 NA 1.690216 1491 4 5969113 5969113 G A intergenic MIR378D1,JAKMIP1 dist=44058;dist=58813 NA NA intronic ENSG00000181215 NA NA NA NA NA 4p16.2 NA NA NA NA rs9997727 0.53 0.53 0.54 0.527356 0.6909 0.1498 0.6037 0.6362 0.547 0.69 0.16 0.63 0.66 0.6163 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 -0.824141 NA NA 0.67 0.631639 NA 0.522 NA 1.6894667 1491 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 1491 4 84234229 84234229 G A intronic HPSE NA NA NA intronic ENSG00000173083 NA NA NA NA NA 4q21.23 NA NA NA NA rs6840520 0.81 0.81 0.811 0.813498 0.7495 0.869 0.6772 0.879 0.8303 0.77 0.85 0.73 0.87 0.7877 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 0.158221 NA NA 0.773488 0.851566 NA 0.79 NA 1.689312 1491 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 1491 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 1491 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 1491 13 99537217 99537217 G T intronic DOCK9 NA NA NA intronic ENSG00000088387 NA NA NA NA NA 13q32.3 NA NA NA NA rs2274642 0.68 0.68 0.658 0.672125 0.7813 0.5258 0.7349 0.5552 0.8241 0.77 0.57 0.77 0.58 0.7464 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 0.264399 NA NA 0.783459 0.607578 NA 0.63 NA 1.688841 1491 19 48715269 48715269 T C intronic CARD8 NA NA NA ncRNA_intronic ENSG00000268583 NA NA NA NA NA 19q13.33 NA NA NA NA rs2008521 0.79 0.79 0.77 0.816893 0.8718 0.7589 0.8674 0.73 0.9018 0.87 0.71 0.86 0.71 0.8695 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 0.096786 NA NA 0.90335 0.749319 NA 0.855 NA 1.6886833 1491 17 21147404 21147404 A G intronic C17orf103 NA NA NA intronic ENSG00000154035 NA NA NA NA NA 17p11.2 NA NA NA NA rs897926 0.66 0.66 0.653 0.662939 0.7992 0.6806 0.67 0.4622 0.771 0.79 0.67 0.65 0.46 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 0.360475 NA NA 0.781846 0.53837 NA 0.717 NA 1.688554 1491 12 80665397 80665397 A G intronic OTOGL NA NA NA intronic ENSG00000165899 NA NA NA NA NA 12q21.31 NA NA NA NA rs4483657 0.77 0.77 0.727 0.740615 0.7753 0.8909 0.781 0.5756 0.7444 0.77 0.9 0.79 0.6 0.7715 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 1.0617 NA NA 0.764994 0.615551 NA 0.804 NA 1.688206 1491 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 1491 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 1491 9 77681179 77681179 C T intronic NMRK1 NA NA NA intronic ENSG00000106733 NA NA NA NA NA 9q21.13 NA NA NA NA rs7852863 0.77 0.77 0.751 0.762181 0.7644 0.7927 0.8473 0.7428 0.6943 0.76 0.77 0.82 0.73 0.7785 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 0.281356 NA 0.01 0.769714 0.771689 ID=COSN215907;OCCURENCE=1(kidney),1(central_nervous_system) 0.768 NA 1.687386 1491 4 83793243 83793243 A C intronic SEC31A NA NA NA intronic ENSG00000138674 NA NA NA NA NA 4q21.22 NA NA NA NA rs4693525 0.73 0.73 0.697 0.712859 0.7694 0.7411 0.8415 0.6384 0.635 0.76 0.74 0.8 0.64 0.7608 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 1.225759 NA NA 0.782674 0.649796 NA 0.783 NA 1.687126 1491 7 99303094 99303094 G A UTR3 CYP3A7 NM_000765:c.*29C>T NA NA UTR3 ENSG00000160870 ENST00000336374:c.*29C>T NA NA NA NA 7q22.1 NA NA NA NA rs12360 0.71 0.71 0.682 0.645367 0.9274 0.7113 0.8012 0.3086 0.6319 0.93 0.72 0.78 0.32 0.8076 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 0.196997 NA NA 0.912209 0.428507 NA 0.674 NA 1.6861244 1492 11 126080757 126080757 T C intronic RPUSD4 NA NA NA intronic ENSG00000165526 NA NA NA NA NA 11q24.2 NA NA NA NA rs608367 0.79 0.79 0.776 0.786142 0.7664 0.996 0.8256 0.5212 0.9202 0.77 1 0.81 0.57 0.7888 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.80169 NA NA 0.759828 0.567924 NA 0.725 NA 1.684972 1492 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 1492 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 1492 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 1492 19 14508964 14508964 T C intronic CD97 NA NA NA intronic ENSG00000123146 NA NA NA NA NA 19p13.12 NA NA NA NA rs7508244 0.82 0.82 0.82 0.846446 0.7535 0.877 0.8343 0.8918 0.8579 0.77 0.85 0.8 0.9 0.8002 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 -1.007417 NA NA 0.763837 0.876986 NA 0.783 NA 1.682463 1492 5 137027953 137027953 A T intronic KLHL3 NA NA NA intronic ENSG00000146021 NA NA NA NA NA 5q31.2 NA NA NA NA rs2301710 0.83 0.83 0.856 0.828075 0.7555 0.9821 0.7522 0.8185 0.8108 0.75 0.98 0.76 0.84 0.796 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 0.025401 NA NA 0.766395 0.802996 NA 0.732 NA 1.682105 1492 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 1492 1 20305065 20305065 C T intronic PLA2G2A NA NA NA intronic ENSG00000188257 NA NA NA NA NA 1p36.13 NA NA NA NA rs10732279 0.83 0.83 0.839 0.834265 0.7714 0.9425 0.7954 0.795 0.8681 0.78 0.94 0.79 0.82 0.7801 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 -0.099758 NA NA 0.76686 0.805493 NA 0.841 NA 1.68164 1492 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 1492 13 99537202 99537202 C A intronic DOCK9 NA NA NA intronic ENSG00000088387 NA NA NA NA NA 13q32.3 NA NA NA NA rs2274641 0.68 0.68 0.653 0.678714 0.7853 0.5258 0.7334 0.5356 0.8814 0.78 0.58 0.77 0.56 0.7505 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 0.999811 NA NA 0.783508 0.592721 NA 0.609 NA 1.680692 1492 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 1492 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 1492 19 18423402 18423402 T C intronic LSM4 NA NA NA intronic ENSG00000130520 NA NA NA NA NA 19p13.11 NA NA NA NA rs2232968 0.76 0.76 0.774 0.773762 0.7694 0.8175 0.8055 0.6679 0.8538 0.76 0.82 0.8 0.69 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 -0.253913 NA NA 0.773023 0.711984 NA 0.696 NA 1.678077 1492 2 31571241 31571241 G C intronic XDH NA NA NA intronic ENSG00000158125 NA NA NA NA NA 2p23.1 NA NA NA NA rs13415401 0.78 0.78 0.771 0.768371 0.7863 0.8433 0.7464 0.6717 0.819 0.81 0.88 0.74 0.65 0.7761 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 0.5031 NA NA 0.759535 0.710622 NA 0.812 NA 1.678065 1492 19 44604914 44604914 T C intronic ZNF224 NA NA NA intronic ENSG00000267680 NA NA NA NA NA 19q13.31 NA NA NA NA rs62115526 0.58 0.58 0.568 0.544329 0.8072 0.5238 0.513 0.2648 0.6953 0.79 0.53 0.58 0.3 0.6975 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 -0.366396 NA NA 0.817558 0.343622 NA 0.667 NA 1.677742 1492 13 20240743 20240743 T C intronic MPHOSPH8 NA NA NA intronic ENSG00000196199 NA NA NA NA NA 13q12.11 NA NA NA NA rs9508812 0.73 0.73 0.711 0.699281 0.7634 0.876 0.7493 0.3722 0.8579 0.79 0.91 0.72 0.42 0.7734 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 -0.280819 NA NA 0.785465 0.430322 NA 0.609 NA 1.677735 1492 2 43015757 43015757 G A intronic HAAO NA NA NA intronic ENSG00000162882 NA NA NA NA NA 2p21 NA NA NA NA rs3816184 0.81 0.81 0.816 0.858427 0.7584 0.8006 0.8934 0.8918 0.9509 0.75 0.8 0.87 0.88 0.8035 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 -1.040566 NA NA 0.761163 0.856786 NA 0.797 NA 1.676937 1492 5 110784822 110784822 A G intronic CAMK4 NA NA NA intronic ENSG00000152495 NA NA NA NA NA 5q22.1 NA NA NA NA rs2116824 0.64 0.64 0.574 0.601038 0.8022 0.5308 0.6931 0.4448 0.6125 0.81 0.53 0.75 0.41 0.7254 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 0.709342 NA NA 0.795581 0.512489 NA 0.601 NA 1.676819 1492 3 108172817 108172817 C T intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA NA NA 3q13.13 NA NA NA NA rs6437783 0.57 0.57 0.584 0.556909 0.827 0.0179 0.6182 0.7209 0.5695 0.84 0.0035 0.67 0.74 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 0.167053 NA NA 0.810486 0.714822 NA 0.674 NA 1.676814 1493 2 31570376 31570376 T C intronic XDH NA NA NA intronic ENSG00000158125 NA NA NA NA NA 2p23.1 NA NA NA NA rs1366813 0.79 0.79 0.771 0.777356 0.7873 0.8472 0.7493 0.6914 0.8313 0.81 0.88 0.75 0.68 0.7785 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 -0.291386 NA NA 0.759535 0.736496 NA 0.812 NA 1.674665 1493 2 103141651 103141651 G C intronic SLC9A4 NA NA NA intronic ENSG00000180251 NA NA NA NA NA 2q12.1 NA NA NA NA rs1024798 0.78 0.78 0.779 0.77496 0.7992 0.5575 0.7839 0.9766 0.6953 0.81 0.56 0.8 0.97 0.757 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 -0.41551 NA NA 0.769186 0.937585 NA 0.899 NA 1.674614 1493 2 103136309 103136309 T C intronic SLC9A4 NA NA NA intronic ENSG00000180251 NA NA NA NA NA 2q12.1 NA NA NA NA rs1403550 0.78 0.78 0.777 0.773762 0.7992 0.5744 0.7824 0.9644 0.6892 0.81 0.57 0.79 0.96 0.7567 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 0.331582 NA NA 0.769651 0.93123 NA 0.891 NA 1.674449 1493 9 79319050 79319050 A C intronic PRUNE2 NA NA NA intronic ENSG00000106772 NA NA NA NA NA 9q21.2 NA NA NA NA rs620476 0.81 0.81 0.81 0.784345 0.7714 0.9127 0.8228 0.6914 0.7638 0.76 0.95 0.81 0.74 0.7957 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 -0.844927 NA NA 0.758727 0.708227 NA 0.754 NA 1.674173 1493 6 33646328 33646328 T C intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs2274195 0.76 0.76 0.717 0.769169 0.7664 0.9464 0.7752 0.5295 0.909 0.77 0.93 0.78 0.54 0.7918 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 -0.77914 NA NA 0.768148 0.586403 NA 0.58 NA 1.673652 1493 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 1493 10 99517355 99517355 A G intronic ZFYVE27 NA NA NA intronic ENSG00000155256 NA NA NA NA NA 10q24.2 NA NA NA NA rs3750612 0.65 0.65 0.679 0.625399 0.83 0.5347 0.5893 0.4985 0.7055 0.82 0.56 0.65 0.51 0.7102 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 0.779262 NA NA 0.787442 0.568543 NA 0.58 NA 1.672358 1493 17 961304 961304 C A intronic ABR NA NA NA intronic ENSG00000159842 NA NA NA NA NA 17p13.3 NA NA NA NA rs2260448 0.83 0.83 0.828 0.854034 0.7853 0.9643 0.7983 0.7943 0.9315 0.78 0.97 0.79 0.8 0.8018 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 0.630675 NA NA 0.741279 0.781661 NA 0.746 NA 1.671621 1493 1 41101572 41101572 A G intronic RIMS3 NA NA NA intronic ENSG00000117016 NA NA NA NA NA 1p34.2 NA NA NA NA rs2253835 0.74 0.74 0.759 0.709065 0.7922 0.5357 0.6801 0.9259 0.5297 0.79 0.52 0.71 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 0.005367 NA NA 0.797093 0.904448 NA 0.812 NA 1.671407 1493 17 39959189 39959189 C G UTR3 LEPREL4 NM_006455:c.*20G>C NA NA UTR3 ENSG00000141696 ENST00000355468:c.*20G>C,ENST00000393928:c.*20G>C,ENST00000465097:c.*20G>C NA NA NA NA 17q21.2 NA NA NA NA rs1065029 0.9 0.9 0.904 0.911142 0.8718 1 0.928 0.8359 0.9499 0.86 1 0.9 0.82 0.9022 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.638686 NA NA 0.888488 0.85202 NA 0.92 NA 1.6708454 1493 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 1493 2 159028800 159028800 A G ncRNA_intronic CCDC148-AS1 NA NA NA ncRNA_intronic ENSG00000227480 NA NA NA NA NA 2q24.1 NA NA NA NA rs2222390 0.99 0.99 0.986 0.986222 1 1 0.9957 0.9501 1 1 1 1 0.96 0.9961 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.525917 NA NA 0.999883 0.956471 NA 0.993 NA 1.6706836 1493 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 1493 2 166799893 166799893 G A ncRNA_intronic LOC100506134 NA NA NA ncRNA_intronic ENSG00000224490 NA NA NA NA NA 2q24.3 NA NA NA NA rs10930190 1 1 0.998 0.996406 0.999 1 1 0.9871 1 1 1 1 0.98 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.018308 NA NA 1 0.986073 NA 1 NA 1.6690666 1493 17 8194319 8194319 T C intronic SLC25A35 NA NA NA intronic ENSG00000125434 NA NA NA NA NA 17p13.1 NA NA NA NA rs6503098 0.55 0.55 0.568 0.598442 0.8121 0.3502 0.6095 0.5582 0.681 0.74 0.31 0.6 0.48 0.7196 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 0.325021 NA NA 0.799302 0.603722 NA 0.159 NA 1.668998 1493 2 26321526 26321526 T C intronic RAB10 NA NA NA intronic ENSG00000084733 NA NA NA NA NA 2p23.3 NA NA NA NA rs11678157 0.78 0.78 0.77 0.756589 0.7863 0.8899 0.7968 0.6392 0.7188 0.79 0.89 0.79 0.61 0.7744 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 2.617965 2.617965 NA 0.770581 0.66069 NA 0.688 NA 1.668719 1493 17 20908325 20908325 T C intronic USP22 NA NA NA intronic ENSG00000124422 NA NA NA NA NA 17p11.2 NA NA NA NA rs9797279 0.67 0.67 0.671 0.694489 0.7863 0.4573 0.7118 0.7057 0.817 0.77 0.49 0.68 0.7 0.7501 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 -0.048549 NA NA 0.79533 0.711688 NA 0.696 NA 1.66827 1493 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 1493 10 28032136 28032136 C T intronic MKX NA NA NA intronic ENSG00000150051 NA NA NA NA NA 10p12.1 NA NA NA NA rs2252651 0.62 0.62 0.611 0.576677 0.7952 0.4226 0.7536 0.4175 0.6002 0.8 0.45 0.73 0.46 0.7331 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 1.856559 1.856559 NA 0.804445 0.481388 NA 0.58 NA 1.667255 1493 1 158507160 158507160 T G intergenic OR10R2,OR6Y1 dist=56485;dist=9758 NA NA intergenic ENSG00000231434,ENSG00000197532 dist=11532;dist=9758 NA NA NA NA 1q23.1 NA NA NA NA rs2051666 0.6 0.6 0.575 0.567292 0.5755 0.5754 0.4697 0.6846 0.4611 0.59 0.61 0.47 0.72 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 -0.612392 NA NA 0.537921 0.649543 NA 0.623 NA 1.6669124 1493 9 73213610 73213610 A G intronic TRPM3 NA NA NA intronic ENSG00000083067 NA NA NA NA NA 9q21.12 NA NA NA NA rs4744605 0.8 0.8 0.778 0.803315 0.7614 0.8482 0.8703 0.7995 0.7577 0.76 0.83 0.87 0.79 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 1.377163 1.377163 NA 0.784535 0.780527 NA 0.87 NA 1.665865 1493 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 1493 1 44442521 44442521 A C intronic ATP6V0B NA NA NA intronic ENSG00000117410 NA NA NA NA NA 1p34.1 NA NA NA NA rs12410334 0.61 0.61 0.56 0.559305 0.7992 0.7361 0.6513 0.0946 0.6933 0.8 0.71 0.69 0.12 0.7159 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 -0.199522 NA NA 0.819302 0.226509 NA 0.565 NA 1.665598 1493 6 95173764 95173764 C T intergenic TSG1,MANEA dist=687565;dist=851609 NA NA intergenic ENSG00000216853,ENSG00000219627 dist=16867;dist=778294 NA NA NA NA 6q16.1 NA NA NA NA rs1322420 0.46 0.46 0.44 0.453674 0.5487 0.3085 0.5187 0.4168 0.5092 0.54 0.32 0.54 0.45 0.5609 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.626542 NA NA 0.558186 0.448968 NA 0.543 NA 1.6655474 1494 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 1494 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 1494 6 41197785 41197785 T C intronic TREML4 NA NA NA intronic ENSG00000188056 NA NA NA NA NA 6p21.1 NA NA NA NA rs9296357 0.72 0.72 0.711 0.690495 0.7734 0.8383 0.8141 0.4228 0.727 0.77 0.87 0.79 0.42 0.7737 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 0.687498 NA NA 0.79093 0.489106 NA 0.768 NA 1.66197 1494 13 99540395 99540395 A G intronic DOCK9 NA NA NA intronic ENSG00000088387 NA NA NA NA NA 13q32.3 NA NA NA NA rs1928104 0.66 0.66 0.658 0.677516 0.7813 0.5268 0.732 0.5348 0.8804 0.77 0.56 0.76 0.55 0.7757 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 -1.084671 NA NA 0.781765 0.587797 NA 0.514 NA 1.661235 1494 19 13443770 13443770 T C intronic CACNA1A NA NA NA intronic ENSG00000141837 NA NA NA NA NA 19p13.2 NA NA NA NA rs16008 0.87 0.87 0.872 0.900359 0.7535 0.999 0.8718 0.9289 0.9315 0.75 1 0.85 0.91 0.8216 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.017993 NA NA 0.764372 0.907807 NA 0.855 NA 1.660528 1494 2 201473674 201473674 G A intronic AOX1 NA NA NA intronic ENSG00000138356 NA NA NA NA NA 2q33.1 NA NA NA NA rs2470902 0.76 0.76 0.773 0.726637 0.7962 0.8165 0.6628 0.702 0.6411 0.78 0.81 0.69 0.72 0.754 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 0.663992 NA NA 0.789302 0.696096 NA 0.826 NA 1.660498 1494 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 1494 3 108158574 108158574 C T intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA NA NA 3q13.13 NA NA NA NA rs3996040 0.62 0.62 0.629 0.600639 0.827 0.2232 0.6167 0.7307 0.5695 0.84 0.17 0.67 0.75 0.7026 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 -0.525999 NA NA 0.810301 0.71659 NA 0.688 NA 1.660099 1494 17 42156471 42156471 A C intronic HDAC5 NA NA NA intronic ENSG00000108840 NA NA NA NA NA 17q21.31 NA NA NA NA rs376816 0.77 0.77 0.735 0.781749 0.7783 0.9306 0.8646 0.534 0.908 0.78 0.93 0.84 0.51 0.7904 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 0.356427 NA NA 0.771628 0.581026 NA 0.63 NA 1.659672 1494 1 92446398 92446398 T A intronic BRDT NA NA NA intronic ENSG00000137948 NA NA NA NA NA 1p22.1 NA NA NA NA rs2303967 0.67 0.67 0.659 0.661542 0.7952 0.6081 0.7291 0.497 0.7536 0.79 0.57 0.71 0.56 0.7601 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 -0.577883 NA NA 0.785482 0.543824 NA 0.681 NA 1.659218 1494 12 6747578 6747578 G C intronic ACRBP NA NA NA intronic ENSG00000111644 NA NA NA NA NA 12p13.31 NA NA NA NA rs1882553 0.7 0.7 0.66 0.679313 0.7913 0.6448 0.7968 0.5408 0.7035 0.78 0.65 0.8 0.54 0.7568 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 1.145364 NA NA 0.792907 0.581707 NA 0.674 NA 1.658993 1494 1 227073410 227073410 G C intronic PSEN2 NA NA NA intronic ENSG00000143801 NA NA NA NA NA 1q42.13 NA NA NA NA rs2236910 0.74 0.74 0.767 0.735623 0.8022 0.5427 0.7176 0.8313 0.7495 0.81 0.59 0.74 0.83 0.7605 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 0.496928 NA NA 0.78 0.818202 NA 0.826 NA 1.6573 1494 1 214551276 214551276 G A intronic PTPN14 NA NA NA intronic ENSG00000152104 NA NA NA NA NA 1q41 NA NA NA NA rs3013451 0.77 0.77 0.786 0.786542 0.7863 0.6488 0.6758 0.9607 0.772 0.81 0.6 0.68 0.96 0.7778 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 0.66006 NA NA 0.778837 0.935089 NA 0.717 NA 1.657063 1494 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 1494 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 1494 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 1494 11 65357697 65357697 A G intronic EHBP1L1 NA NA NA intronic ENSG00000173442 NA NA NA NA NA 11q13.1 NA NA NA NA rs1151503 0.84 0.84 0.831 0.851438 0.7624 0.9583 0.8516 0.8048 0.8957 0.76 0.96 0.82 0.84 0.8162 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 1.175553 NA NA 0.765357 0.820864 NA 0.841 NA 1.656043 1494 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 1494 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 1494 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 1494 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 1494 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 1494 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 1495 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 1495 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 1495 1 226578099 226578099 T C intronic PARP1 NA NA NA intronic ENSG00000143799 NA NA NA NA NA 1q42.12 NA NA NA NA rs1805403 0.87 0.87 0.882 0.857628 0.7734 0.9315 0.8127 0.9713 0.7464 0.78 0.93 0.81 0.98 0.8059 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 -0.688961 NA NA 0.76686 0.9335 NA 0.92 NA 1.65384 1495 21 45540207 45540207 C T intronic PWP2 NA NA NA intronic ENSG00000241945 NA NA NA NA NA 21q22.3 NA NA NA NA rs2850157 0.65 0.65 0.614 0.579872 0.8201 0.7004 0.6787 0.2708 0.5562 0.81 0.7 0.7 0.29 0.7184 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 -0.784893 NA NA 0.807674 0.344076 NA 0.645 NA 1.653826 1495 1 109778577 109778577 T C intronic SARS NA NA NA intronic ENSG00000031698 NA NA NA NA NA 1p13.3 NA NA NA NA rs658092 0.73 0.73 0.696 0.689297 0.7873 0.8879 0.8127 0.4259 0.6524 0.78 0.87 0.81 0.43 0.7638 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 0.130962 NA NA 0.795581 0.510667 NA 0.659 NA 1.653319 1495 8 38835456 38835456 T C intronic HTRA4 NA NA NA intronic ENSG00000169495 NA NA NA NA NA 8p11.22 NA NA NA NA rs4733960 0.82 0.82 0.795 0.779153 0.8002 0.9494 0.8559 0.6687 0.6769 0.8 0.94 0.85 0.68 0.7819 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 0.560048 NA NA 0.764651 0.68611 NA 0.826 NA 1.653249 1495 5 131006356 131006356 T A intronic FNIP1 NA NA NA intronic ENSG00000217128 NA NA NA NA NA 5q31.1 NA NA NA NA rs26007 0.7 0.7 0.709 0.71266 0.7853 0.4911 0.6729 0.8177 0.7526 0.77 0.51 0.72 0.8 0.7572 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 -0.012859 NA NA 0.804373 0.804269 NA 0.522 NA 1.653127 1495 6 32307446 32307446 T C intronic C6orf10 NA NA NA intronic ENSG00000204296 NA NA NA NA NA 6p21.32 NA NA NA NA rs3132944 0.79 0.79 0.79 0.785942 0.7833 0.8135 0.7983 0.6982 0.8701 0.8 0.83 0.8 0.73 0.8019 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 -0.735293 NA NA 0.761729 0.717219 NA 0.812 NA 1.653071 1495 14 53325090 53325090 C T UTR3 FERMT2 NM_001134999:c.*5G>A,NM_006832:c.*5G>A NA NA UTR3 ENSG00000073712 ENST00000341590:c.*5G>A,ENST00000395631:c.*5G>A,ENST00000554152:c.*5G>A,ENST00000343279:c.*5G>A NA NA NA NA 14q22.1 NA NA NA NA rs6572868 0.81 0.81 0.801 0.795128 0.9085 0.7808 0.8458 0.6475 0.8569 0.91 0.77 0.86 0.64 0.8646 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 -0.85038 NA NA 0.907442 0.685202 NA 0.79 NA 1.6527914 1495 1 3646192 3646192 G A intronic TP73 NA NA NA intronic ENSG00000078900 NA NA NA NA NA 1p36.32 NA NA NA NA rs1885867 0.63 0.63 0.649 0.597444 0.833 0.3284 0.6628 0.6059 0.5746 0.84 0.34 0.69 0.6 0.7228 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 0.066534 NA NA 0.791897 0.619102 NA 0.652 NA 1.652303 1495 1 23101688 23101688 T G intronic EPHB2 NA NA NA UTR5 ENSG00000133216 ENST00000374627:c.-7T>G NA NA NA NA 1p36.12 NA NA NA NA rs1561624 0.66 0.66 0.652 0.691693 0.8598 0.4504 0.6801 0.6528 0.8282 0.87 0.4 0.7 0.62 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 -0.847093 NA NA 0.858614 0.689498 NA 0.638 NA 1.6511527 1495 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 1495 12 21317810 21317810 A G intronic SLCO1B1 NA NA NA intronic ENSG00000134538,ENSG00000257062 NA NA NA NA NA 12p12.1 NA NA NA NA rs4149033 0.8 0.8 0.793 0.83107 0.7773 0.879 0.7781 0.7814 0.9417 0.77 0.88 0.78 0.76 0.7916 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 0.135594 NA NA 0.780998 0.783333 NA 0.688 NA 1.650102 1495 1 151499635 151499635 C T intronic CGN NA NA NA intronic ENSG00000143375 NA NA NA NA NA 1q21.3 NA NA NA NA rs2298168 0.51 0.51 0.527 0.500599 0.825 0.1885 0.572 0.3457 0.6472 0.82 0.19 0.61 0.34 0.6858 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 0.431545 NA NA 0.839757 0.427656 NA 0.616 NA 1.649443 1495 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 1495 21 26965100 26965100 C A intronic MRPL39 NA NA NA intronic ENSG00000154719 NA NA NA NA NA 21q21.3 NA NA NA NA rs2829809 0.64 0.64 0.621 0.600439 0.8091 0.5605 0.6354 0.4947 0.545 0.8 0.57 0.66 0.47 0.7195 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 -0.401478 NA NA 0.823488 0.547003 NA 0.674 NA 1.647912 1495 2 61413723 61413723 A G intronic AHSA2 NA NA NA intronic ENSG00000173209 NA NA NA NA NA 2p15 NA NA NA NA rs1809028 0.8 0.8 0.815 0.795527 0.8012 0.6786 0.7795 0.9871 0.6626 0.79 0.68 0.8 0.98 0.7752 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 1.049231 NA NA 0.776279 0.947118 ID=COSN166104;OCCURENCE=1(breast) 0.812 NA 1.647321 1495 1 3646214 3646214 T C intronic TP73 NA NA NA intronic ENSG00000078900 NA NA NA NA NA 1p36.32 NA NA NA NA rs1885866 0.65 0.65 0.679 0.626398 0.833 0.3383 0.6715 0.6967 0.5838 0.84 0.35 0.7 0.7 0.7261 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 -0.641067 NA NA 0.79391 0.690531 NA 0.688 NA 1.64699 1495 20 3657804 3657804 T A intronic ADAM33 NA NA NA intronic ENSG00000149451 NA NA NA NA NA 20p13 NA NA NA NA rs597165 0.76 0.76 0.534 0.904952 0.8439 0.9702 0.9078 0.9297 0.865 0.7 0.85 0.78 0.73 0.8704 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 0.756341 NA NA 0.63887 0.749433 NA NA NA 1.64683 1496 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 1496 16 57113229 57113229 A G intronic NLRC5 NA NA NA intronic ENSG00000140853 NA NA NA NA NA 16q13 NA NA NA NA rs42221 0.78 0.78 0.761 0.75639 0.7823 0.8224 0.7925 0.6551 0.773 0.8 0.85 0.79 0.66 0.7828 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 -0.10432 NA NA 0.790714 0.698858 NA 0.775 NA 1.644186 1496 13 99098882 99098882 A C intronic FARP1 NA NA NA intronic ENSG00000152767 NA NA NA NA NA 13q32.2 NA NA NA NA rs2281766 0.65 0.65 0.62 0.584265 0.8042 0.6429 0.5793 0.4198 0.5235 0.79 0.63 0.66 0.43 0.7235 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 0.664555 NA NA 0.82814 0.494326 NA 0.667 NA 1.64416 1496 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 1496 17 10219366 10219366 C T intronic MYH13 NA NA NA intronic ENSG00000006788 NA NA NA NA NA 17p13.1 NA NA NA NA rs2240577 0.83 0.83 0.833 0.826478 0.7803 0.8175 0.8372 0.907 0.7669 0.79 0.82 0.82 0.9 0.7973 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 -0.863814 NA NA 0.782625 0.887019 NA 0.913 NA 1.639775 1496 21 45538725 45538725 C A intronic PWP2 NA NA NA intronic ENSG00000241945 NA NA NA NA NA 21q22.3 NA NA NA NA rs756554 0.67 0.67 0.619 0.601837 0.8231 0.6994 0.6801 0.3517 0.5562 0.82 0.7 0.71 0.38 0.7288 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 -1.085329 NA NA 0.808605 0.399909 NA 0.667 NA 1.639495 1496 20 3657803 3657803 A G intronic ADAM33 NA NA NA intronic ENSG00000149451 NA NA NA NA NA 20p13 NA NA NA NA rs568251 0.76 0.76 0.456 0.904752 0.8439 0.9702 0.9078 0.9297 0.864 0.7 0.86 0.78 0.73 0.8702 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 0.891912 NA NA 0.646662 0.756468 NA NA NA 1.639238 1496 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 1496 14 52509484 52509484 G A intronic NID2 NA NA NA intronic ENSG00000087303 NA NA NA NA NA 14q22.1 NA NA NA NA rs4901186 0.69 0.69 0.838 0.853035 0.7863 0.8542 0.7867 0.9039 0.8988 0.66 0.73 0.68 0.71 0.808 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 -1.165135 NA NA 0.767558 0.871766 NA NA NA 1.638142 1496 2 74128391 74128391 G C intronic ACTG2 NA NA NA intronic ENSG00000163017 NA NA NA NA NA 2p13.1 NA NA NA NA rs1721241 0.73 0.73 0.689 0.700479 0.7992 0.5952 0.8516 0.6672 0.6452 0.8 0.58 0.83 0.72 0.7669 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 -0.840634 NA NA 0.795814 0.70177 NA 0.688 NA 1.638086 1496 14 52509101 52509101 G A intronic NID2 NA NA NA intronic ENSG00000087303 NA NA NA NA NA 14q22.1 NA NA NA NA rs1982963 0.83 0.83 0.846 0.853035 0.7863 0.8542 0.7867 0.9032 0.8998 0.81 0.83 0.78 0.92 0.8074 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 -0.475172 NA NA 0.768372 0.872674 NA 0.841 NA 1.637928 1496 14 52509483 52509483 T C intronic NID2 NA NA NA intronic ENSG00000087303 NA NA NA NA NA 14q22.1 NA NA NA NA rs56834750 0.68 0.68 0.837 0.853435 0.7873 0.8542 0.7867 0.9039 0.8998 0.65 0.72 0.67 0.7 0.8081 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 -0.210735 NA NA 0.76686 0.872447 NA NA NA 1.63774 1496 22 17586471 17586471 C T intronic IL17RA NA NA NA intronic ENSG00000177663 NA NA NA NA NA 22q11.1 NA NA NA NA rs2241046 0.83 0.83 0.834 0.832268 0.7704 0.8105 0.8689 0.8994 0.8016 0.78 0.82 0.83 0.92 0.8115 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 0.332716 NA NA 0.780581 0.880844 NA 0.717 NA 1.637519 1496 14 22509188 22509188 T C intergenic OR4E2,DAD1 dist=374950;dist=524619 NA NA exonic ENSG00000211800 NA synonymous SNV ENSG00000211800:ENST00000390448:exon2:c.T126C:p.L42L NA NA 14q11.2 NA NA NA NA rs4982545 0.97 0.97 0.971 0.970048 0.9503 0.999 0.9683 0.9554 0.9816 0.96 1 0.95 0.96 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 -0.661461 NA NA 0.94833 0.953994 NA 0.978 NA 1.63637 1496 15 68618961 68618961 T C intronic ITGA11 NA NA NA intronic ENSG00000137809 NA NA NA NA NA 15q23 NA NA NA NA rs2271722 0.68 0.68 0.628 0.65655 0.8022 0.8016 0.8127 0.2231 0.8323 0.81 0.83 0.79 0.21 0.7774 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 -0.761259 NA NA 0.784722 0.329461 NA 0.58 NA 1.635678 1496 7 158719084 158719084 C T intronic WDR60 NA NA NA intronic ENSG00000126870 NA NA NA NA NA 7q36.3 NA NA NA NA rs2244789 0.79 0.79 0.757 0.780551 0.7803 0.9187 0.8386 0.6316 0.7986 0.78 0.92 0.83 0.63 0.7931 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 2.478319 2.478319 NA 0.791373 0.700371 NA 0.71 NA 1.635227 1496 1 1653004 1653004 T C intronic CDK11A,CDK11B NA NA NA ncRNA_intronic ENSG00000268575 NA NA NA NA NA 1p36.33 NA NA NA NA rs36039898 0.74 0.74 0.767 0.747404 0.9225 0.7788 0.879 0.4985 0.7781 0.85 0.76 0.81 0.47 0.8485 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 -0.819151 NA NA 0.927319 0.553319 NA 0.761 NA 1.6350143 1497 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 1497 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 1497 8 67813633 67813633 A G UTR3 MCMDC2 NM_001136161:c.*46A>G NA NA UTR3 ENSG00000178460 ENST00000396592:c.*46A>G NA NA NA NA 8q13.1 NA NA NA NA rs2358008 0.95 0.95 0.954 0.964257 0.8917 1 0.9582 0.997 0.9622 0.89 1 0.94 1 0.92 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.201497 NA NA 0.887442 0.983432 NA 0.971 NA 1.6341914 1497 11 66101974 66101974 C T intronic RIN1 NA NA NA ncRNA_exonic ENSG00000254756 NA NA NA NA NA 11q13.2 NA NA NA NA rs3016317 0.77 0.77 0.736 0.746605 0.9085 0.8333 0.8833 0.3389 0.9448 0.9 0.86 0.89 0.36 0.871 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 0.307783 NA NA 0.919795 0.422202 NA 0.659 NA 1.6340383 1497 21 45539240 45539240 G C intronic PWP2 NA NA NA intronic ENSG00000241945 NA NA NA NA NA 21q22.3 NA NA NA NA rs2855652 0.65 0.65 0.621 0.58147 0.8201 0.7024 0.6715 0.2784 0.5573 0.81 0.71 0.7 0.29 0.741 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 -0.26537 NA NA 0.805478 0.352579 NA 0.623 NA 1.633422 1497 12 53416251 53416251 C T intronic EIF4B NA NA NA ncRNA_intronic ENSG00000257337 NA NA NA NA NA 12q13.13 NA NA NA NA rs10506315 0.79 0.79 0.776 0.753395 0.9085 0.7946 0.9121 0.4531 0.8446 0.9 0.82 0.9 0.49 0.8657 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 -0.991169 NA NA 0.926388 0.534221 NA 0.775 NA 1.6327453 1497 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 1497 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 1497 15 64448365 64448365 C T UTR3 SNX22 NM_024798:c.*1658C>T NA NA UTR3 ENSG00000157734 ENST00000325881:c.*1658C>T NA NA NA NA 15q22.31 NA NA NA NA rs2253557 0.9 0.9 0.903 0.822085 0.9225 0.9554 0.9323 0.7814 0.5583 0.93 0.95 0.93 0.78 0.8644 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 -0.769469 NA NA 0.916163 0.797549 NA 0.826 NA 1.6302704 1497 6 32713188 32713188 C T intronic HLA-DQA2 NA NA NA intronic ENSG00000237541 NA NA NA NA NA 6p21.32 NA NA NA NA rs2213565 0.82 0.82 0.811 0.852436 0.7913 0.9107 0.8112 0.8298 0.9151 0.77 0.89 0.81 0.81 0.809 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 -0.79178 NA NA 0.769841 0.821641 NA 0.775 NA 1.629859 1497 2 26417533 26417533 C A intronic HADHA NA NA NA intronic ENSG00000084754 NA NA NA NA NA 2p23.3 NA NA NA NA rs1865324 0.86 0.86 0.87 0.851837 0.7913 0.8542 0.8357 0.9599 0.7771 0.8 0.87 0.83 0.96 0.7957 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 2.778276 2.778276 NA 0.783721 0.929414 NA 0.79 NA 1.629279 1497 9 114484682 114484682 T C intronic C9orf84 NA NA NA intronic ENSG00000165181 NA NA NA NA NA 9q31.3 NA NA NA NA rs1337581 0.84 0.84 0.827 0.827676 0.7883 0.9266 0.866 0.7882 0.7924 0.79 0.92 0.86 0.81 0.8067 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 0.029047 NA NA 0.77686 0.802088 NA 0.79 NA 1.62814 1497 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 1497 16 57007451 57007451 G A intronic CETP NA NA NA intronic ENSG00000087237 NA NA NA NA NA 16q13 NA NA NA NA rs289714 0.67 0.67 0.647 0.652556 0.7982 0.7321 0.6614 0.3971 0.7597 0.79 0.73 0.72 0.39 0.7611 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 0.095098 NA NA 0.813488 0.464513 ID=COSN165213;OCCURENCE=1(breast) 0.659 NA 1.627212 1497 1 1653028 1653028 C T intronic CDK11A,CDK11B NA NA NA ncRNA_intronic ENSG00000268575 NA NA NA NA NA 1p36.33 NA NA NA NA rs16825265 0.8 0.8 0.788 0.747404 0.9225 0.7788 0.879 0.4985 0.7781 0.92 0.8 0.86 0.56 0.8549 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 -0.186397 NA NA 0.929788 0.561422 NA 0.768 NA 1.6261453 1497 6 33748831 33748831 T G intronic LEMD2 NA NA NA intronic ENSG00000161904 NA NA NA NA NA 6p21.31 NA NA NA NA rs2182658 0.81 0.81 0.791 0.823482 0.7833 0.9544 0.8429 0.6914 0.8947 0.79 0.95 0.84 0.66 0.8191 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 1.411 1.411 NA 0.771512 0.710849 NA 0.826 NA 1.626088 1497 8 144644787 144644787 T A intronic GSDMD NA NA NA intronic ENSG00000104518 NA NA NA NA NA 8q24.3 NA NA NA NA rs1377663 0.82 0.82 0.812 0.813299 0.7724 0.9643 0.853 0.6906 0.8374 0.79 0.98 0.86 0.66 0.8195 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 0.418863 NA NA 0.782275 0.720374 NA 0.783 NA 1.625825 1497 3 119171280 119171280 C G intronic TMEM39A NA NA NA intronic ENSG00000176142 NA NA NA NA NA 3q13.33 NA NA NA NA rs1919586 0.81 0.81 0.827 0.819089 0.7843 0.8482 0.7464 0.8313 0.8599 0.77 0.87 0.75 0.84 0.8015 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 3.266682 3.266682 NA 0.789186 0.835225 NA 0.696 NA 1.625014 1498 6 31475127 31475127 A G intronic MICB NA NA NA intronic ENSG00000204516 NA NA NA NA NA 6p21.33 NA NA NA NA rs3131638 0.82 0.82 0.829 0.853634 0.7744 0.9058 0.8703 0.8464 0.8793 0.76 0.87 0.83 0.83 0.8169 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 -0.340836 NA NA 0.784252 0.844622 NA 0.768 NA 1.624448 1498 6 7578819 7578819 T G intronic DSP NA NA NA intronic ENSG00000096696 NA NA NA NA NA 6p24.3 NA NA NA NA rs2806229 0.75 0.75 0.728 0.740016 0.8002 0.8036 0.7925 0.6248 0.7311 0.79 0.8 0.78 0.62 0.7732 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 0.262797 NA NA 0.802326 0.657966 NA 0.717 NA 1.624274 1498 16 23079353 23079353 T C UTR3 USP31 NM_020718:c.*14A>G NA NA UTR3 ENSG00000103404 ENST00000219689:c.*14A>G,ENST00000567975:c.*14A>G NA NA NA NA 16p12.2 NA NA NA NA rs8047644 0.92 0.92 0.95 0.889177 0.9125 0.9335 0.8703 0.9962 0.6881 0.91 0.91 0.88 0.99 0.8835 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 -1.202231 NA NA 0.913256 0.981566 NA 0.877 NA 1.6240774 1498 11 1855854 1855854 G C intronic SYT8 NA NA NA intronic ENSG00000149043 NA NA NA NA NA 11p15.5 NA NA NA NA rs2063551 0.73 0.73 0.715 0.735823 0.7903 0.6399 0.7839 0.6967 0.7975 0.79 0.65 0.79 0.69 0.7861 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 0.552334 NA NA 0.800256 0.685447 NA 0.746 NA 1.623344 1498 18 47093790 47093790 C T intronic LIPG NA NA NA intronic ENSG00000101670 NA NA NA NA NA 18q21.1 NA NA NA NA rs2000812 0.74 0.74 0.776 0.790136 0.7893 0.5546 0.6599 0.9902 0.8558 0.77 0.52 0.72 0.98 0.7773 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 -0.311601 NA NA 0.810814 0.950068 NA 0.826 NA 1.622586 1498 5 176523562 176523562 C A intronic FGFR4 NA NA NA intronic ENSG00000160867 NA NA NA NA NA 5q35.2 NA NA NA NA rs31777 0.85 0.85 0.832 0.852835 0.7684 1 0.8473 0.7451 0.9376 0.77 1 0.83 0.8 0.8272 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.273898 NA NA 0.781977 0.752837 NA 0.899 NA 1.622423 1498 17 74570408 74570408 A G intronic ST6GALNAC2 NA NA NA intronic ENSG00000070731 NA NA NA NA NA 17q25.1 NA NA NA NA rs7207173 0.8 0.8 0.789 0.78095 0.8091 0.8869 0.8184 0.6657 0.772 0.82 0.88 0.81 0.68 0.7875 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 1.236954 1.236954 NA 0.781744 0.689287 NA 0.833 NA 1.621656 1498 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 1498 2 109513321 109513321 C A UTR3 EDAR NM_022336:c.*42G>T NA NA UTR3 ENSG00000135960 ENST00000258443:c.*42G>T,ENST00000409271:c.*42G>T,ENST00000376651:c.*42G>T NA NA NA NA 2q12.3 NA NA NA NA rs7607563 0.9 0.9 0.888 0.882987 0.9046 0.994 0.9236 0.733 0.9202 0.91 1 0.94 0.75 0.9066 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.423967 NA NA 0.90114 0.776668 NA 0.884 NA 1.6209934 1498 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 1498 18 61261565 61261565 C G intronic SERPINB13 NA NA NA intronic ENSG00000197641 NA NA NA NA NA 18q21.33 NA NA NA NA rs11152396 0.78 0.78 0.776 0.785743 0.8042 0.875 0.7738 0.6853 0.819 0.8 0.86 0.78 0.65 0.7859 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 -0.612774 NA NA 0.789884 0.729914 NA 0.812 NA 1.620016 1498 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 1498 22 50961169 50961169 A G intronic NCAPH2 NA NA NA intronic ENSG00000025770 NA NA NA NA NA 22q13.33 NA NA NA NA rs131813 0.85 0.85 0.845 0.881789 0.7724 0.9653 0.8573 0.8896 0.9151 0.76 0.97 0.81 0.88 0.8306 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 1.172271 NA NA 0.778488 0.892873 NA 0.913 NA 1.618512 1498 1 197316435 197316435 T C intronic CRB1 NA NA NA intronic ENSG00000134376 NA NA NA NA NA 1q31.3 NA NA NA NA rs1337167 0.8 0.8 0.821 0.839257 0.7714 0.7649 0.7968 0.9244 0.9008 0.77 0.76 0.78 0.91 0.8184 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 1.267928 1.267928 NA 0.792442 0.90581 NA 0.819 NA 1.617758 1498 13 28539185 28539185 T A intronic CDX2 NA NA NA intronic ENSG00000165556 NA NA NA NA NA 13q12.2 NA NA NA NA rs2481953 0.68 0.68 0.667 0.695088 0.7982 0.8085 0.7075 0.3828 0.8855 0.77 0.79 0.7 0.39 0.7822 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 -1.066421 NA NA 0.80186 0.427599 ID=COSN164452;OCCURENCE=1(breast) 0.399 NA 1.61774 1498 9 115598447 115598447 C T intronic SNX30 NA NA NA intronic ENSG00000148158 NA NA NA NA NA 9q32 NA NA NA NA rs6477961 0.76 0.76 0.744 0.752596 0.7922 0.7877 0.7896 0.5961 0.8609 0.79 0.83 0.79 0.61 0.7859 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 -0.509273 NA NA 0.804474 0.637235 NA 0.732 NA 1.617426 1498 19 35649324 35649324 C G intronic FXYD5 NA NA NA intronic ENSG00000089327 NA NA NA NA NA 19q13.12 NA NA NA NA rs1633915 0.86 0.86 0.864 0.882188 0.7843 0.9782 0.8761 0.8661 0.91 0.78 0.98 0.87 0.86 0.8197 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 -0.167589 NA NA 0.778605 0.860418 NA 0.87 NA 1.617395 1498 6 7578823 7578823 G A intronic DSP NA NA NA intronic ENSG00000096696 NA NA NA NA NA 6p24.3 NA NA NA NA rs2842691 0.78 0.78 0.774 0.764377 0.8002 0.8036 0.7954 0.7156 0.7311 0.79 0.8 0.78 0.72 0.7799 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 0.32897 NA NA 0.803023 0.730141 NA 0.761 NA 1.616877 1498 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 1498 9 130164818 130164818 T C intronic SLC2A8 NA NA NA intronic ENSG00000136856 NA NA NA NA NA 9q33.3 NA NA NA NA rs3802367 0.73 0.73 0.673 0.733826 0.8052 0.7431 0.8127 0.5446 0.8507 0.82 0.74 0.77 0.55 0.7975 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 -0.24515 NA NA 0.780974 0.617523 NA 0.746 NA 1.616326 1499 1 117690272 117690272 G A UTR3 VTCN1 NM_024626:c.*8C>T,NM_001253850:c.*8C>T,NM_001253849:c.*8C>T NA NA UTR3 ENSG00000134258 ENST00000328189:c.*8C>T,ENST00000369458:c.*8C>T,ENST00000359008:c.*8C>T,ENST00000539893:c.*8C>T NA NA NA NA 1p13.1 NA NA NA NA rs10754339 0.76 0.76 0.747 0.734625 0.9225 0.9206 0.8718 0.2897 0.8538 0.93 0.9 0.85 0.28 0.8725 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 0.693758 NA NA 0.923488 0.415116 NA 0.768 NA 1.6148454 1499 16 23540798 23540798 C T intronic EARS2 NA NA NA intronic ENSG00000103356 NA NA NA NA NA 16p12.2 NA NA NA NA rs2072062 0.71 0.71 0.72 0.688698 0.8131 0.6974 0.7277 0.5643 0.6922 0.81 0.67 0.75 0.58 0.7598 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 -0.627329 NA NA 0.81253 0.634716 NA 0.761 NA 1.61457 1499 1 160971146 160971146 A G intronic F11R NA NA NA intronic ENSG00000158769,ENSG00000270149 NA NA NA NA NA 1q23.3 NA NA NA NA rs790055 0.84 0.84 0.841 0.829872 0.7913 0.8343 0.804 0.9206 0.7607 0.79 0.86 0.8 0.91 0.8049 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 1.362068 1.362068 NA 0.789767 0.886064 NA 0.862 NA 1.614033 1499 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 1499 12 54805765 54805765 C T intronic ITGA5 NA NA NA ncRNA_intronic ENSG00000258086,ENSG00000258137 NA NA NA NA NA 12q13.13 NA NA NA NA rs1249181 0.88 0.88 0.889 0.845447 0.9205 0.9345 0.8473 0.7496 0.8047 0.92 0.95 0.86 0.74 0.8832 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 -1.49628 NA NA 0.917093 0.790513 NA 0.812 NA 1.6125403 1499 13 47297352 47297352 G A intronic LRCH1 NA NA NA intronic ENSG00000136141 NA NA NA NA NA 13q14.13 NA NA NA NA rs7319836 0.79 0.79 0.77 0.749401 0.8032 0.9137 0.8631 0.5522 0.7106 0.8 0.92 0.83 0.59 0.7842 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 -1.202394 NA NA 0.800116 0.58965 NA 0.768 NA 1.612484 1499 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 1499 6 17855864 17855864 G C intronic KIF13A NA NA NA intronic ENSG00000137177 NA NA NA NA NA 6p22.3 NA NA NA NA rs624105 0.79 0.79 0.818 0.813898 0.7823 0.7857 0.6268 0.9289 0.8528 0.79 0.74 0.67 0.91 0.7985 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 0.393643 NA NA 0.807441 0.903927 NA 0.775 NA 1.611759 1499 22 24106674 24106674 G A intronic C22orf15 NA NA NA intronic ENSG00000169314 NA NA NA NA NA 22q11.23 NA NA NA NA rs140181 0.79 0.79 0.791 0.744209 0.8091 0.6647 0.8401 0.8359 0.5675 0.82 0.68 0.82 0.87 0.7702 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 0.168084 NA NA 0.809651 0.82198 NA 0.804 NA 1.611049 1499 17 39923614 39923614 A G intronic JUP NA NA NA intronic ENSG00000173801 NA NA NA NA NA 17q21.2 NA NA NA NA rs12942034 0.73 0.73 0.755 0.744209 0.8171 0.5119 0.6023 0.9054 0.7914 0.81 0.51 0.64 0.91 0.7638 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 0.630941 NA NA 0.808372 0.88493 NA 0.812 NA 1.610728 1499 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 1499 11 20127046 20127046 C A intronic NAV2 NA NA NA intronic ENSG00000166833 NA NA NA NA NA 11p15.1 NA NA NA NA rs11025385 0.57 0.57 0.53 0.571086 0.828 0.5169 0.6297 0.1952 0.8292 0.83 0.47 0.68 0.19 0.7343 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 0.207893 NA NA 0.828023 0.28552 NA 0.514 NA 1.609677 1499 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 1499 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 1499 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 1499 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 1499 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 1499 5 176519287 176519287 G A intronic FGFR4 NA NA NA intronic ENSG00000160867 NA NA NA NA NA 5q35.2 NA NA NA NA rs393923 0.88 0.88 0.857 0.899361 0.7684 1 0.8631 0.913 0.9376 0.77 1 0.83 0.93 0.8422 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.376698 NA NA 0.780624 0.897547 NA 0.942 NA 1.608776 1499 3 129020778 129020778 A G intronic C3orf37 NA NA NA intronic ENSG00000183624 NA NA NA NA NA 3q21.3 NA NA NA NA rs6765930 0.81 0.81 0.796 0.809704 0.8141 0.6974 0.7738 0.9039 0.819 0.82 0.73 0.81 0.9 0.7957 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 -0.56471 NA NA 0.781512 0.89832 NA 0.884 NA 1.608688 1499 17 7403942 7403942 A C intronic POLR2A NA NA NA intronic ENSG00000181222 NA NA NA NA NA 17p13.1 NA NA NA NA rs12936464 0.81 0.81 0.781 0.772963 0.8151 0.9772 0.879 0.5855 0.6973 0.81 0.98 0.88 0.57 0.7866 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 -0.236992 NA NA 0.789884 0.632773 NA 0.688 NA 1.608416 1499 11 2979798 2979798 G T intronic NAP1L4 NA NA NA intronic ENSG00000205531 NA NA NA NA NA 11p15.4 NA NA NA NA rs7940694 0.87 0.87 0.867 0.897564 0.7873 0.9127 0.8977 0.9592 0.9121 0.8 0.91 0.86 0.95 0.8278 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 -0.110423 NA NA 0.778246 0.93176 NA 0.754 NA 1.606654 1499 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 1499 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 1499 3 49166069 49166069 C T intronic LAMB2 NA NA NA intronic ENSG00000172037 NA NA NA NA NA 3p21.31 NA NA NA NA rs9865051 0.88 0.88 0.875 0.903355 0.7913 1 0.853 0.8994 0.9601 0.79 1 0.86 0.89 0.8349 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.71222 NA NA 0.767907 0.874943 NA 0.899 NA 1.605893 1499 20 62234273 62234273 A G intronic GMEB2 NA NA NA intronic ENSG00000101216 NA NA NA NA NA 20q13.33 NA NA NA NA rs766915 0.64 0.64 0.624 0.601837 0.833 0.6151 0.6138 0.4002 0.6145 0.83 0.62 0.65 0.39 0.7288 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 -0.228204 NA NA 0.832791 0.479573 NA 0.659 NA 1.605409 1499 7 50023122 50023122 C T intronic ZPBP NA NA NA intronic ENSG00000042813 NA NA NA NA NA 7p12.2 NA NA NA NA rs988392 0.81 0.81 0.829 0.783347 0.8072 0.8839 0.6484 0.8086 0.7168 0.82 0.89 0.67 0.81 0.7857 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 -1.336135 NA NA 0.801797 0.802608 NA 0.746 NA 1.605303 1500 16 19471665 19471665 T C intronic TMC5 NA NA NA intronic ENSG00000103534 NA NA NA NA NA 16p12.3 NA NA NA NA rs6497375 0.78 0.78 0.747 0.809904 0.7813 0.8591 0.781 0.7216 0.9284 0.8 0.83 0.77 0.72 0.8222 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 0.452058 NA NA 0.791744 0.726445 NA 0.572 NA 1.604756 1500 6 41196156 41196156 C T UTR5 TREML4 NM_198153:c.-10C>T NA NA UTR5 ENSG00000188056 ENST00000341495:c.-10C>T,ENST00000448827:c.-10C>T NA NA NA NA 6p21.1 NA NA NA NA rs2803496 0.9 0.9 0.891 0.890974 0.9135 0.9494 0.951 0.7738 0.9233 0.92 0.96 0.94 0.79 0.9115 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 -0.115786 NA NA 0.905 0.787012 NA 0.906 NA 1.6033334 1500 17 79389251 79389251 C T intronic BAHCC1 NA NA NA intronic ENSG00000171282 NA NA NA NA NA 17q25.3 NA NA NA NA rs9897258 0.86 0.86 0.876 0.880591 0.7793 0.999 0.879 0.8328 0.9284 0.78 1 0.86 0.82 0.8238 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.538035 NA NA 0.795045 0.833913 NA 0.884 NA 1.601855 1500 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 1500 11 1901467 1901467 A C intronic LSP1 NA NA NA intronic ENSG00000130592 NA NA NA NA NA 11p15.5 NA NA NA NA rs2271439 0.7 0.7 0.685 0.702476 0.7903 0.4454 0.7536 0.7398 0.7904 0.8 0.46 0.79 0.74 0.7834 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 -0.377319 NA NA 0.825035 0.761829 NA 0.659 NA 1.601265 1500 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 1500 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 1500 19 51485194 51485194 C T intronic KLK7 NA NA NA ncRNA_intronic ENSG00000267879 NA NA NA NA NA 19q13.41 NA NA NA NA rs1654523 0.94 0.94 0.943 0.945487 0.8986 1 0.964 0.9175 0.9622 0.9 1 0.96 0.9 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 -0.909312 NA NA 0.907093 0.930549 NA 0.855 NA 1.5998403 1500 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 1500 4 75248544 75248544 C T intronic EREG NA NA NA intronic ENSG00000124882 NA NA NA NA NA 4q13.3 NA NA NA NA rs2367708 0.8 0.8 0.809 0.792332 0.8101 0.6964 0.8458 0.8782 0.7188 0.82 0.69 0.83 0.88 0.7998 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 0.509558 NA NA 0.791163 0.849682 NA 0.768 NA 1.598937 1500 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 1500 2 113326502 113326502 C T intronic POLR1B NA NA NA intronic ENSG00000125630 NA NA NA NA NA 2q13 NA NA NA NA rs13010814 0.75 0.75 0.747 0.770767 0.7783 0.7113 0.7882 0.7784 0.8016 0.77 0.67 0.8 0.76 0.7931 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 -0.898215 NA NA 0.829884 0.809124 NA 0.855 NA 1.598716 1500 11 3026692 3026692 T G intronic CARS NA NA NA intronic ENSG00000110619 NA NA NA NA NA 11p15.4 NA NA NA NA rs4758458 0.86 0.86 0.862 0.88738 0.7853 0.87 0.9035 0.9652 0.8937 0.8 0.86 0.86 0.96 0.8308 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 0.393228 NA NA 0.785249 0.931426 NA 0.725 NA 1.598651 1500 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 1500 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 1501 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 1501 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 1501 17 10535349 10535349 C G intronic MYH3 NA NA NA intronic ENSG00000109063 NA NA NA NA NA 17p13.1 NA NA NA NA rs2239936 0.72 0.72 0.715 0.723842 0.84 0.5536 0.6974 0.7753 0.729 0.83 0.54 0.7 0.76 0.7591 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 -1.501727 NA NA 0.811933 0.772025 NA 0.804 NA 1.588967 1501 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 1501 18 3089522 3089522 G T intronic MYOM1 NA NA NA intronic ENSG00000101605 NA NA NA NA NA 18p11.31 NA NA NA NA rs948298 0.8 0.8 0.801 0.800319 0.8082 0.7411 0.9092 0.8222 0.7464 0.8 0.75 0.9 0.81 0.8092 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 0.693499 NA NA 0.797018 0.830632 NA 0.855 NA 1.585582 1501 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 1501 2 158401137 158401137 T C intronic ACVR1C NA NA NA intronic ENSG00000123612 NA NA NA NA NA 2q24.1 NA NA NA NA rs10432556 0.76 0.76 0.741 0.726038 0.8231 0.9276 0.7709 0.4637 0.7413 0.82 0.92 0.77 0.47 0.7834 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 -0.808245 NA NA 0.808488 0.50227 NA 0.746 NA 1.585012 1502 18 77797321 77797321 C T intronic RBFA NA NA NA intronic ENSG00000101546,ENSG00000267127 NA NA NA NA NA 18q23 NA NA NA NA rs748337 0.79 0.79 0.758 0.783147 0.8022 0.9216 0.817 0.5802 0.8712 0.8 0.91 0.83 0.6 0.8123 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 0.380228 NA NA 0.80093 0.613028 NA 0.703 NA 1.58457 1502 1 1263144 1263144 G A UTR3 GLTPD1 NM_001029885:c.*1G>A NA NA UTR3 ENSG00000224051 ENST00000343938:c.*1G>A NA NA NA NA 1p36.33 NA NA NA NA rs307350 0.84 0.84 0.851 0.84984 0.9235 0.8313 0.8991 0.7935 0.8344 0.9 0.8 0.86 0.77 0.8897 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 -0.193059 NA NA 0.935775 0.852814 NA 0.848 NA 1.5843584 1502 1 159409533 159409533 G A UTR5 OR10J1 NM_012351:c.-16G>A NA NA ncRNA_UTR5 ENSG00000196184 NA NA NA NA NA 1q23.2 NA NA NA NA rs10908721 0.91 0.91 0.902 0.910743 0.9761 1 0.9654 0.7088 0.9857 0.98 1 0.96 0.68 0.9622 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.611432 NA NA 0.977674 0.778711 NA 0.899 NA 1.584026 1502 1 41540861 41540861 T C intronic SCMH1 NA NA NA intronic ENSG00000010803 NA NA NA NA NA 1p34.2 NA NA NA NA rs2011982 0.89 0.89 0.897 0.910942 0.7992 0.9524 0.8631 0.9924 0.907 0.8 0.95 0.83 0.99 0.8339 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 1.468504 1.468504 NA 0.783256 0.95143 NA 0.775 NA 1.583644 1502 16 1836709 1836709 G C intronic NUBP2 NA NA NA intronic ENSG00000095906,ENSG00000162032 NA NA NA NA NA 16p13.3 NA NA NA NA rs2575351 0.81 0.81 0.811 0.816294 0.7932 0.7212 0.7853 0.9478 0.7822 0.79 0.71 0.84 0.93 0.8047 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 -0.486886 NA NA 0.818901 0.926746 NA 0.616 NA 1.583199 1502 11 1950302 1950302 A G intronic TNNT3 NA NA NA intronic ENSG00000130595 NA NA NA NA NA 11p15.5 NA NA NA NA rs629990 0.84 0.84 0.828 0.824281 0.8062 0.9256 0.8804 0.8109 0.7168 0.8 0.93 0.86 0.8 0.8071 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 -0.604102 NA NA 0.803559 0.792916 NA 0.87 NA 1.583141 1502 11 20404757 20404757 T C UTR3 HTATIP2 NM_006410:c.*6T>C,NM_001098521:c.*6T>C,NM_001098520:c.*6T>C,NM_001098522:c.*6T>C NA NA UTR3 ENSG00000109854 ENST00000421577:c.*6T>C,ENST00000443524:c.*6T>C,ENST00000419348:c.*6T>C,ENST00000451739:c.*6T>C,ENST00000531058:c.*6T>C NA NA NA NA 11p15.1 NA NA NA NA rs3781679 0.71 0.71 0.694 0.710663 0.9404 0.4673 0.7176 0.5855 0.8896 0.94 0.47 0.75 0.6 0.8638 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 0.602131 NA NA 0.948256 0.64049 NA 0.754 NA 1.5808774 1502 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 1502 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 1502 12 96374563 96374563 T C intronic HAL NA NA NA intronic ENSG00000084110 NA NA NA NA NA 12q23.1 NA NA NA NA rs6538694 0.87 0.87 0.87 0.887181 0.7952 0.9514 0.8674 0.907 0.9029 0.79 0.96 0.86 0.89 0.8394 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 -1.135648 NA NA 0.785116 0.876759 NA 0.855 NA 1.580284 1502 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 1502 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 1502 9 19550308 19550308 A T intronic SLC24A2 NA NA NA intronic ENSG00000155886 NA NA NA NA NA 9p22.1 NA NA NA NA rs4977555 0.87 0.87 0.858 0.888778 0.7803 1 0.8732 0.8638 0.9305 0.78 1 0.86 0.87 0.8512 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.933649 NA NA 0.791744 0.880617 NA 0.935 NA 1.576756 1502 7 73470782 73470782 C T intronic ELN NA NA NA intronic ENSG00000049540 NA NA NA NA NA 7q11.23 NA NA NA NA rs2856728 0.77 0.77 0.771 0.756589 0.828 0.6815 0.8084 0.7534 0.728 0.82 0.72 0.81 0.73 0.7895 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 0.503318 NA NA 0.806163 0.767817 NA 0.812 NA 1.576337 1502 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 1503 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 1503 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 1503 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 1503 12 76461145 76461145 C T intronic NAP1L1 NA NA NA intronic ENSG00000187109 NA NA NA NA NA 12q21.2 NA NA NA NA rs7972289 0.83 0.83 0.817 0.84984 0.7893 0.996 0.8314 0.7322 0.9335 0.79 0.99 0.79 0.72 0.8367 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 2.726698 2.726698 NA 0.800465 0.758057 NA 0.761 NA 1.573535 1503 18 10680163 10680163 G A intronic PIEZO2 NA NA NA intronic ENSG00000154864 NA NA NA NA NA 18p11.22 NA NA NA NA rs487037 0.67 0.67 0.628 0.67472 0.8241 0.6875 0.7795 0.388 0.8211 0.82 0.65 0.76 0.39 0.7796 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 0.211978 NA NA 0.822907 0.455515 NA 0.667 NA 1.573393 1503 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 1503 2 48925746 48925746 C T intronic LHCGR,STON1-GTF2A1L NA NA NA intronic ENSG00000068781,ENSG00000138039,ENSG00000242441 NA NA NA NA NA 2p16.3 NA NA NA NA rs6755901 0.71 0.71 0.732 0.73742 0.8181 0.4692 0.6527 0.8873 0.7883 0.82 0.44 0.69 0.87 0.7657 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 1.486865 1.486865 NA 0.843256 0.870177 NA 0.848 NA 1.572944 1503 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 1503 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 1503 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 1503 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 1503 12 96371894 96371894 C T intronic HAL NA NA NA intronic ENSG00000084110 NA NA NA NA NA 12q23.1 NA NA NA NA rs4762659 0.89 0.89 0.9 0.916134 0.7952 0.9524 0.879 0.9917 0.9274 0.79 0.96 0.87 0.98 0.8488 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 0.022165 NA NA 0.784535 0.955061 NA 0.884 NA 1.571465 1503 12 96374554 96374554 G A intronic HAL NA NA NA intronic ENSG00000084110 NA NA NA NA NA 12q23.1 NA NA NA NA rs6538693 0.89 0.89 0.899 0.916933 0.7952 0.9534 0.879 0.9917 0.9305 0.79 0.96 0.87 0.98 0.8491 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 -0.886217 NA NA 0.785349 0.955515 NA 0.884 NA 1.570351 1503 4 13615293 13615293 C A intronic BOD1L1 NA NA NA intronic ENSG00000038219 NA NA NA NA NA 4p15.33 NA NA NA NA rs2109917 0.75 0.75 0.724 0.722444 0.8082 0.9712 0.8444 0.3033 0.8579 0.81 0.97 0.83 0.34 0.8094 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 1.063989 NA NA 0.812515 0.368588 NA 0.551 NA 1.569885 1503 1 159002301 159002301 T C intronic IFI16 NA NA NA intronic ENSG00000163565 NA NA NA NA NA 1q23.1 NA NA NA NA rs2518553 0.68 0.68 0.631 0.630192 0.838 0.5873 0.8689 0.3192 0.7117 0.85 0.66 0.87 0.3 0.776 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 2.175763 2.175763 NA 0.816977 0.430549 NA 0.522 NA 1.569023 1503 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 1503 3 130286886 130286886 T C intronic COL6A6 NA NA NA intronic ENSG00000206384 NA NA NA NA NA 3q22.1 NA NA NA NA rs9836961 0.64 0.64 0.582 0.59405 0.8201 0.4444 0.7795 0.4092 0.6339 0.84 0.46 0.8 0.41 0.7686 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 -0.489468 NA NA 0.843125 0.509315 NA 0.638 NA 1.568175 1503 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 1503 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 1504 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 1504 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 1504 18 2909831 2909831 C G intronic EMILIN2 NA NA NA intronic ENSG00000132205 NA NA NA NA NA 18p11.31 NA NA NA NA rs607411 0.72 0.72 0.675 0.707668 0.827 0.8214 0.7695 0.3918 0.8507 0.83 0.79 0.78 0.4 0.7869 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 0.289887 NA NA 0.826744 0.463913 NA 0.652 NA 1.559356 1504 10 16967445 16967445 T G intronic CUBN NA NA NA intronic ENSG00000107611 NA NA NA NA NA 10p13 NA NA NA NA rs1276713 0.86 0.86 0.889 0.88778 0.8091 0.9841 0.8285 0.9092 0.8824 0.81 0.99 0.81 0.83 0.8355 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 -0.79443 NA NA 0.797395 0.899909 NA 0.884 NA 1.558005 1504 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 1504 22 24108288 24108288 C G intronic CHCHD10 NA NA NA intronic ENSG00000250479 NA NA NA NA NA 22q11.23 NA NA NA NA rs140182 0.78 0.78 0.767 0.730232 0.837 0.6647 0.8473 0.7534 0.5736 0.85 0.68 0.83 0.76 0.7734 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 -0.383634 NA NA 0.832326 0.750567 NA 0.79 NA 1.557274 1504 3 112184927 112184927 A G UTR3 BTLA NM_181780:c.*28T>C,NM_001085357:c.*28T>C NA NA UTR3 ENSG00000186265 ENST00000334529:c.*28T>C NA NA NA NA 3q13.2 NA NA NA NA rs2171513 0.74 0.74 0.704 0.684305 0.9573 0.7847 0.8141 0.2436 0.8037 0.96 0.82 0.82 0.26 0.8571 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 0.180826 NA NA 0.962558 0.35497 NA 0.703 NA 1.5563754 1505 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 1505 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 1505 12 132685837 132685837 A G intronic GALNT9 NA NA NA intronic ENSG00000182870 NA NA NA NA NA 12q24.33 NA NA NA NA rs10794457 0.78 0.78 0.754 0.791733 0.8032 0.7312 0.8055 0.8071 0.8119 0.81 0.7 0.8 0.79 0.8099 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 -0.756761 NA NA 0.833373 0.820405 NA 0.826 NA 1.553527 1505 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 1505 17 38556770 38556770 T C intronic TOP2A NA NA NA intronic ENSG00000131747 NA NA NA NA NA 17q21.2 NA NA NA NA rs471692 0.83 0.83 0.846 0.812899 0.835 0.7867 0.6988 0.9841 0.6667 0.84 0.77 0.75 0.97 0.7958 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 -2.454487 NA NA 0.817624 0.960077 NA 0.899 NA 1.551576 1505 11 71730715 71730715 T A intronic NUMA1 NA NA NA ncRNA_intronic ENSG00000251143 NA NA NA NA NA 11q13.4 NA NA NA NA rs2298456 0.83 0.83 0.837 0.826677 0.9404 0.7758 0.8012 0.7965 0.8211 0.94 0.75 0.81 0.77 0.8965 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 0.695302 NA NA 0.945864 0.808591 NA 0.79 NA 1.5505693 1505 2 153519524 153519524 A G intronic PRPF40A NA NA NA intronic ENSG00000196504 NA NA NA NA NA 2q23.3 NA NA NA NA rs1036526 0.76 0.76 0.738 0.765775 0.8191 0.7341 0.8761 0.6831 0.7771 0.81 0.71 0.84 0.7 0.8141 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 0.494195 NA NA 0.817734 0.7199 NA 0.645 NA 1.549066 1505 16 87436720 87436720 G T UTR3 MAP1LC3B NM_022818:c.*17G>T NA NA UTR3 ENSG00000140941 ENST00000268607:c.*17G>T,ENST00000570189:c.*340G>T,ENST00000564844:c.*1129G>T,ENST00000534986:c.*17G>T NA NA NA NA 16q24.2 NA NA NA NA rs1054521 0.77 0.77 0.776 0.8127 0.9384 1 0.9006 0.4024 0.9826 0.9 0.98 0.85 0.27 0.9075 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 -1.231403 NA NA 0.93859 0.423794 NA 0.696 NA 1.5488434 1505 7 99696370 99696370 C G intronic MCM7 NA NA NA intronic ENSG00000166508 NA NA NA NA NA 7q22.1 NA NA NA NA rs1534309 0.81 0.81 0.814 0.820088 0.8241 0.8522 0.8012 0.7617 0.8753 0.83 0.87 0.78 0.74 0.8112 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 -0.281793 NA NA 0.816512 0.777576 NA 0.783 NA 1.548188 1505 6 166737980 166737980 G A intronic SFT2D1 NA NA NA intronic ENSG00000198818 NA NA NA NA NA 6q27 NA NA NA NA rs4710041 0.87 0.87 0.887 0.893171 0.8151 0.9762 0.7781 0.9047 0.954 0.82 0.97 0.79 0.89 0.8347 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 -0.021976 NA NA 0.802442 0.883568 NA 0.877 NA 1.547758 1505 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 1505 11 11398698 11398698 G A intronic GALNT18 NA NA NA intronic ENSG00000110328 NA NA NA NA NA 11p15.3 NA NA NA NA rs10444245 0.69 0.69 0.715 0.659345 0.8509 0.506 0.6037 0.7141 0.5859 0.84 0.47 0.66 0.75 0.7523 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 0.53993 NA NA 0.850373 0.75443 NA 0.725 NA 1.546427 1505 1 22174600 22174600 A G intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs3767138 0.76 0.76 0.781 0.761981 0.8231 0.8085 0.6758 0.6664 0.8415 0.81 0.81 0.68 0.7 0.8116 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 2.081569 2.081569 NA 0.81925 0.714546 NA 0.681 NA 1.54605 1505 17 39888455 39888455 G C intronic HAP1 NA NA NA intronic ENSG00000173801,ENSG00000173805 NA NA NA NA NA 17q21.2 NA NA NA NA rs3895103 0.85 0.85 0.859 0.867812 0.826 0.8929 0.8357 0.8585 0.9202 0.82 0.88 0.83 0.87 0.8177 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 0.023147 NA NA 0.810349 0.849523 NA 0.899 NA 1.545951 1505 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 1506 5 115339086 115339086 A G intronic AQPEP NA NA NA intronic ENSG00000172901 NA NA NA NA NA 5q23.1 NA NA NA NA rs6594929 0.83 0.83 0.801 0.811701 0.8082 0.7718 0.804 0.944 0.683 0.8 0.75 0.82 0.95 0.8152 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 -0.767192 NA NA 0.831968 0.922742 NA 0.819 NA 1.544632 1506 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 1506 11 85977117 85977117 G A intronic EED NA NA NA intronic ENSG00000074266 NA NA NA NA NA 11q14.2 NA NA NA NA rs10898460 0.78 0.78 0.782 0.764976 0.841 0.7212 0.7003 0.7965 0.7352 0.84 0.71 0.71 0.83 0.7872 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 -0.237117 NA NA 0.827965 0.799728 NA 0.812 NA 1.543835 1506 7 128845018 128845018 C T intronic SMO NA NA NA intronic ENSG00000128602 NA NA NA NA NA 7q32.1 NA NA NA NA rs2703091 0.77 0.77 0.76 0.752396 0.8231 0.756 0.7896 0.6664 0.7658 0.81 0.77 0.78 0.69 0.796 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 -0.084193 NA NA 0.838605 0.68906 NA 0.754 NA 1.542295 1506 2 240029736 240029736 T C intronic HDAC4 NA NA NA intronic ENSG00000068024 NA NA NA NA NA 2q37.3 NA NA NA NA rs7585225 0.82 0.82 0.798 0.838658 0.8191 0.8224 0.8977 0.7769 0.9172 0.81 0.83 0.9 0.78 0.8336 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 0.312228 NA NA 0.805446 0.756701 NA 0.877 NA 1.541854 1506 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 1506 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 1506 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 1506 21 47786449 47786449 T A intronic PCNT NA NA NA intronic ENSG00000160299 NA NA NA NA NA 21q22.3 NA NA NA NA rs9637173 0.85 0.85 0.859 0.80651 0.8072 0.7956 0.67 0.9047 0.7812 0.85 0.79 0.83 0.92 0.7806 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 -2.347964 NA NA 0.871899 0.928571 NA 0.819 NA 1.540301 1506 19 52004551 52004551 C T intronic SIGLEC12 NA NA NA intronic ENSG00000254521 NA NA NA NA NA 19q13.41 NA NA NA NA rs3810109 0.74 0.74 0.752 0.754193 0.835 0.4147 0.8545 0.913 0.7352 0.83 0.42 0.85 0.9 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 -0.486201 NA NA 0.83093 0.885837 ID=COSM148703;OCCURENCE=1(stomach) 0.841 NA 1.54017 1506 2 109522720 109522720 G A intronic EDAR NA NA NA intronic ENSG00000135960 NA NA NA NA NA 2q12.3 NA NA NA NA rs260639 0.74 0.74 0.708 0.674321 0.836 0.8968 0.8429 0.3003 0.6646 0.85 0.88 0.85 0.33 0.795 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 -0.164303 NA NA 0.829302 0.396732 NA 0.703 NA 1.539698 1506 11 55656483 55656483 T A intronic TRIM51 NA NA NA intronic ENSG00000124900 NA NA NA NA NA 11q11 NA NA NA NA rs7483200 0.84 0.84 0.801 0.829673 0.8151 0.9087 0.9078 0.6982 0.8855 0.82 0.92 0.9 0.7 0.81 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 -0.96217 NA NA 0.835312 0.740118 NA 0.688 NA 1.539588 1506 1 204915393 204915393 A G intronic NFASC NA NA NA intronic ENSG00000163531 NA NA NA NA NA 1q32.1 NA NA NA NA rs2595960 0.67 0.67 0.675 0.665136 0.8598 0.4187 0.5937 0.7337 0.6769 0.85 0.35 0.69 0.75 0.7522 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 0.043164 NA NA 0.848995 0.75742 NA 0.775 NA 1.539005 1506 17 39334456 39334456 G A UTR5 KRTAP4-2 NM_033062:c.-40C>T NA NA UTR5 ENSG00000244537 ENST00000377726:c.-40C>T NA NA NA NA 17q21.2 NA NA NA NA rs493514 0.94 0.94 0.93 0.952077 0.9324 0.9484 0.9741 0.9395 0.9775 0.93 0.95 0.97 0.93 0.9387 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 0.426408 NA NA 0.923283 0.94313 NA 0.978 NA 1.5389504 1506 17 39333956 39333956 T C UTR3 KRTAP4-2 NM_033062:c.*50A>G NA NA UTR3 ENSG00000244537 ENST00000377726:c.*50A>G NA NA NA NA 17q21.2 NA NA NA NA rs377518 0.94 0.94 0.93 0.952077 0.9324 0.9484 0.9741 0.9395 0.9775 0.93 0.95 0.97 0.93 0.9388 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 0.564508 NA NA 0.923366 0.945199 NA 0.971 NA 1.5387674 1506 4 36160340 36160340 G T intronic ARAP2 NA NA NA intronic ENSG00000047365 NA NA NA NA NA 4p14 NA NA NA NA rs1546495 0.86 0.86 0.853 0.86901 0.8141 0.9206 0.8199 0.857 0.9233 0.82 0.91 0.86 0.87 0.8303 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 -1.413505 NA NA 0.817684 0.840092 NA 0.797 NA 1.537916 1506 3 58520859 58520859 A G UTR5 ACOX2 NM_003500:c.-26T>C NA NA UTR5 ENSG00000168306 ENST00000302819:c.-26T>C,ENST00000459701:c.-26T>C,ENST00000474098:c.-26T>C NA NA NA NA 3p14.3 NA NA NA NA rs4681862 0.88 0.88 0.862 0.869808 0.9453 1 0.9251 0.6006 0.9826 0.95 1 0.93 0.62 0.9171 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.160092 NA NA 0.933605 0.658193 NA 0.812 NA 1.5373284 1506 13 47302934 47302934 T A intronic LRCH1 NA NA NA intronic ENSG00000136141 NA NA NA NA NA 13q14.2 NA NA NA NA rs3742273 0.66 0.66 0.64 0.622404 0.8439 0.7341 0.719 0.2315 0.7393 0.85 0.73 0.72 0.23 0.7724 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 -0.150456 NA NA 0.847674 0.340899 NA 0.558 NA 1.536026 1506 10 27326999 27326999 T C intronic ANKRD26 NA NA NA intronic ENSG00000107890 NA NA NA NA NA 10p12.1 NA NA NA NA rs7096505 0.86 0.86 0.865 0.865216 0.8101 0.9891 0.7262 0.8684 0.8885 0.81 0.98 0.76 0.86 0.8408 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 -1.043299 NA NA 0.8133 0.863914 NA 0.819 NA 1.5358 1506 14 23014062 23014062 G C intergenic OR4E2,DAD1 dist=879824;dist=19745 NA NA downstream ENSG00000211887,ENSG00000211888 NA NA NA NA NA 14q11.2 NA NA NA NA rs1263641 0.67 0.67 0.664 0.660543 0.6481 0.6855 0.5173 0.7821 0.5849 0.65 0.66 0.56 0.8 0.6455 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 -1.549416 NA NA 0.670785 0.770277 NA 0.667 NA 1.535615 1506 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 1507 1 1956362 1956362 G A intronic GABRD NA NA NA intronic ENSG00000187730 NA NA NA NA NA 1p36.33 NA NA NA NA rs2376805 0.8 0.8 0.812 0.775559 0.828 0.7381 0.7349 0.7935 0.7648 0.83 0.74 0.79 0.83 0.8044 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 -0.66977 NA NA 0.832907 0.793917 NA 0.884 NA 1.534693 1507 11 4621485 4621485 C G UTR3 TRIM68 NM_018073:c.*21G>C NA NA UTR3 ENSG00000167333 ENST00000300747:c.*21G>C,ENST00000531101:c.*913G>C NA NA NA NA 11p15.4 NA NA NA NA rs2231978 0.86 0.86 0.835 0.852236 0.9443 0.9633 0.9035 0.584 0.9693 0.95 0.96 0.89 0.59 0.9202 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 -0.400703 NA NA 0.934388 0.642662 NA 0.855 NA 1.5344454 1507 10 17110595 17110595 G A intronic CUBN NA NA NA intronic ENSG00000107611 NA NA NA NA NA 10p13 NA NA NA NA rs10795440 0.89 0.89 0.887 0.911142 0.8072 0.9454 0.853 0.9652 0.9509 0.82 0.95 0.86 0.96 0.8568 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 0.951859 NA NA 0.801628 0.939401 NA 0.812 NA 1.534372 1507 14 24543873 24543873 G A intronic CPNE6 NA NA NA intronic ENSG00000100884 NA NA NA NA NA 14q11.2 NA NA NA NA rs2025256 0.81 0.81 0.792 0.79393 0.8449 0.9623 0.9078 0.4909 0.8967 0.83 0.97 0.9 0.52 0.8164 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 -0.590712 NA NA 0.806628 0.52542 NA 0.725 NA 1.532072 1507 11 554299 554299 C G UTR3 LRRC56 NM_198075:c.*23C>G NA NA UTR3 ENSG00000161328 ENST00000270115:c.*23C>G NA NA NA NA 11p15.5 NA NA NA NA rs10902172 0.9 0.9 0.891 0.881989 0.9453 0.9206 0.9568 0.7685 0.8773 0.94 0.91 0.94 0.77 0.9185 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 0.04295 NA NA 0.93798 0.796212 NA 0.558 NA 1.5315534 1507 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 1507 19 6833989 6833989 G T intronic VAV1 NA NA NA intronic ENSG00000141968 NA NA NA NA NA 19p13.3 NA NA NA NA rs308199 0.64 0.64 0.586 0.630192 0.825 0.7321 0.7839 0.1483 0.8671 0.81 0.7 0.8 0.19 0.7848 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 0.49957 NA NA 0.862674 0.288924 NA 0.609 NA 1.527526 1507 2 55201038 55201038 C T intronic RTN4 NA NA NA intronic ENSG00000115310 NA NA NA NA NA 2p16.1 NA NA NA NA rs2255026 0.84 0.84 0.859 0.817891 0.83 0.7639 0.7839 0.9924 0.6493 0.81 0.77 0.81 0.99 0.8078 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 0.515467 NA NA 0.835 0.966636 NA 0.804 NA 1.5272 1507 8 21925214 21925214 C G intronic EPB49 NA NA NA intronic ENSG00000158856 NA NA NA NA NA 8p21.3 NA NA NA NA rs6997244 0.81 0.81 0.785 0.780351 0.827 0.9772 0.7824 0.5567 0.8303 0.82 0.98 0.79 0.59 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 2.842363 2.842363 NA 0.833721 0.591239 NA 0.768 NA 1.526979 1507 17 40173851 40173851 A C intronic NKIRAS2 NA NA NA intronic ENSG00000168256 NA NA NA NA NA 17q21.2 NA NA NA NA rs9894001 0.78 0.78 0.781 0.785543 0.8072 0.872 0.8689 0.6324 0.8221 0.8 0.86 0.83 0.64 0.8302 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 -0.392752 NA NA 0.835761 0.670091 NA 0.812 NA 1.526839 1507 13 25020910 25020910 G A intronic PARP4 NA NA NA ncRNA_intronic ENSG00000243008 NA NA NA NA NA 13q12.12 NA NA NA NA rs9507346 0.72 0.72 0.868 0.876597 0.9404 0.9663 0.9395 0.6679 0.956 0.77 0.75 0.77 0.58 0.9288 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 -1.148503 NA NA 0.937326 0.661898 NA 0.768 NA 1.5268073 1507 10 64944317 64944317 T A intronic JMJD1C NA NA NA intronic ENSG00000171988 NA NA NA NA NA 10q21.3 NA NA NA NA rs10740107 0.75 0.75 0.742 0.732827 0.8419 0.6468 0.6052 0.7867 0.727 0.84 0.62 0.69 0.78 0.7889 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 -0.647001 NA NA 0.842938 0.804095 NA 0.681 NA 1.526262 1507 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 1507 7 45697297 45697297 T C intronic ADCY1 NA NA NA intronic ENSG00000164742 NA NA NA NA NA 7p12.3 NA NA NA NA rs2471231 0.86 0.86 0.685 0.870407 0.8499 0.9177 0.8934 0.7655 0.9683 0.86 0.93 0.88 0.79 0.8725 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 0.868439 NA NA 0.751744 0.663414 NA 0.13 NA 1.525856 1507 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 1507 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 1508 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 1508 7 151818777 151818777 T C UTR3 GALNT11 NM_022087:c.*15T>C NA NA ncRNA_exonic ENSG00000229591 NA NA NA NA NA 7q36.1 NA NA NA NA rs967093 1 1 0.999 0.991214 0.996 1 0.9885 0.9977 0.9703 1 1 0.99 1 0.9903 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.295077 NA NA 0.990233 0.996369 NA 0.993 NA 1.523467 1508 20 29978216 29978216 T C intronic DEFB119 NA NA NA intronic ENSG00000180483 NA NA NA NA NA 20q11.21 NA NA NA NA rs2206381 0.81 0.81 0.813 0.824681 0.831 0.7579 0.8184 0.9054 0.7822 0.83 0.72 0.8 0.88 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 0.471178 NA NA 0.832093 0.873128 NA 0.87 NA 1.522907 1508 16 81213422 81213422 C T intronic PKD1L2 NA NA NA intronic ENSG00000166473,ENSG00000269323 NA NA NA NA NA 16q23.2 NA NA NA NA rs4889262 0.82 0.82 0.835 0.778355 0.83 0.9593 0.8184 0.6157 0.7301 0.84 0.96 0.82 0.65 0.8132 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 -0.075749 NA NA 0.834094 0.67264 NA 0.688 NA 1.522706 1508 5 176081856 176081856 A G intronic TSPAN17 NA NA NA intronic ENSG00000048140 NA NA NA NA NA 5q35.2 NA NA NA NA rs13183320 0.72 0.72 0.723 0.676518 0.8579 0.4673 0.7464 0.7171 0.6012 0.86 0.48 0.79 0.74 0.7685 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 0.460246 NA NA 0.852873 0.730368 NA 0.797 NA 1.520727 1508 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 1508 13 111955465 111955465 T C UTR3 ARHGEF7 NM_003899:c.*5T>C,NM_001113513:c.*5T>C NA NA UTR3 ENSG00000102606 ENST00000370623:c.*5T>C,ENST00000218789:c.*5T>C,ENST00000375736:c.*5T>C,ENST00000426073:c.*5T>C,ENST00000375737:c.*5T>C NA NA NA NA 13q34 NA NA NA NA rs1555751 0.93 0.93 0.929 0.935903 0.9433 0.9157 0.9553 0.9251 0.9499 0.94 0.9 0.97 0.92 0.9349 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 0.652537 NA NA 0.934884 0.917158 NA 0.906 NA 1.5202494 1508 11 61253973 61253973 A G intronic PPP1R32 NA NA NA intronic ENSG00000162148 NA NA NA NA NA 11q12.2 NA NA NA NA rs2957858 0.76 0.76 0.73 0.720248 0.8459 0.9692 0.768 0.388 0.7495 0.84 0.97 0.77 0.37 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 0.187581 NA NA 0.839381 0.448683 NA 0.652 NA 1.519819 1508 12 7287914 7287914 C T intronic CLSTN3 NA NA NA intronic ENSG00000139182 NA NA NA NA NA 12p13.31 NA NA NA NA rs2278822 0.71 0.71 0.699 0.73123 0.8221 0.5962 0.7824 0.6369 0.8681 0.81 0.59 0.81 0.63 0.8034 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 1.54354 1.54354 NA 0.854884 0.639355 NA 0.732 NA 1.519616 1508 1 55118566 55118566 C G ncRNA_exonic HEATR8-TTC4 NA NA NA UTR5 ENSG00000184313,ENSG00000271723 ENST00000421030:c.-34C>G,ENST00000339553:c.-34C>G,ENST00000440047:c.-34C>G,ENST00000395690:c.-34C>G,ENST00000413188:c.-34C>G,ENST00000422659:c.-34C>G,ENST00000438846:c.-34C>G;ENST00000606515:c.-34C>G,ENST00000425300:c.-34C>G,ENST00000414150:c.-34C>G NA NA NA NA 1p32.3 NA NA NA NA rs1655520 0.96 0.96 0.956 0.948682 0.998 1 0.9914 0.8116 1 1 1 1 0.84 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 0.242651 NA NA 0.998204 0.861931 NA 0.949 NA 1.518996 1508 8 2796277 2796277 C T intronic CSMD1 NA NA NA intronic ENSG00000183117 NA NA NA NA NA 8p23.2 NA NA NA NA rs585000 0.82 0.82 0.812 0.814696 0.8241 0.9236 0.879 0.6498 0.8701 0.84 0.94 0.86 0.64 0.8249 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 1.158955 NA NA 0.83305 0.692608 NA 0.87 NA 1.51795 1508 13 43155443 43155443 G A intronic TNFSF11 NA NA NA intronic ENSG00000120659 NA NA NA NA NA 13q14.11 NA NA NA NA rs2277439 0.76 0.76 0.787 0.788339 0.839 0.6974 0.6715 0.8033 0.8926 0.84 0.68 0.7 0.79 0.8115 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 0.979916 NA NA 0.832209 0.810486 NA 0.79 NA 1.517291 1508 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 1508 11 431834 431834 A G intronic ANO9 NA NA NA intronic ENSG00000185101 NA NA NA NA NA 11p15.5 NA NA NA NA rs55914928 0.9 0.9 0.903 0.924321 0.839 0.996 0.755 0.9902 0.9693 0.84 1 0.75 0.99 0.8451 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.856863 NA NA 0.799744 0.960945 NA 0.833 NA 1.516156 1508 9 133942624 133942624 A G intronic LAMC3 NA NA NA intronic ENSG00000050555 NA NA NA NA NA 9q34.12 NA NA NA NA rs3765569 0.69 0.69 0.721 0.687899 0.8559 0.631 0.6599 0.5363 0.7986 0.83 0.64 0.7 0.53 0.7885 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 0.920828 NA NA 0.839651 0.600999 NA 0.833 NA 1.515949 1508 15 62979016 62979016 A C intronic TLN2 NA NA NA ncRNA_intronic ENSG00000259756 NA NA NA NA NA 15q22.2 NA NA NA NA rs12917611 0.87 0.87 0.84 0.841653 0.9503 0.9593 0.9467 0.59 0.8742 0.95 0.94 0.96 0.59 0.92 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 -0.55319 NA NA 0.947791 0.655697 NA 0.79 NA 1.5152423 1509 7 32598524 32598524 G A intronic AVL9 NA NA NA intronic ENSG00000105778 NA NA NA NA NA 7p14.3 NA NA NA NA rs1466144 0.83 0.83 0.813 0.844449 0.8201 0.7996 0.8948 0.8555 0.865 0.83 0.82 0.87 0.83 0.8402 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 -0.019715 NA NA 0.825349 0.858148 NA 0.754 NA 1.514351 1509 15 35207397 35207397 C G intronic AQR NA NA NA intronic ENSG00000021776 NA NA NA NA NA 15q14 NA NA NA NA rs2044920 0.76 0.76 0.774 0.7502 0.8579 0.6171 0.6441 0.7564 0.8436 0.86 0.63 0.69 0.81 0.7958 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 -0.957615 NA NA 0.833538 0.753039 NA 0.79 NA 1.512762 1509 20 34079200 34079200 A G intronic CEP250 NA NA NA intronic ENSG00000126001 NA NA NA NA NA 20q11.22 NA NA NA NA rs224373 0.92 0.92 0.919 0.9375 0.8091 0.998 0.8991 0.9924 0.9601 0.82 1 0.88 0.99 0.8633 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.73216 NA NA 0.816348 0.962938 NA 0.884 NA 1.511252 1509 4 109769899 109769899 C T intronic COL25A1 NA NA NA intronic ENSG00000188517 NA NA NA NA NA 4q25 NA NA NA NA rs13135591 0.79 0.79 0.761 0.784744 0.835 0.8522 0.8372 0.5847 0.8967 0.84 0.86 0.83 0.59 0.8236 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 0.520088 NA NA 0.830392 0.618342 NA 0.812 NA 1.511008 1509 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 1509 7 780980 780980 T G intronic HEATR2 NA NA NA intronic ENSG00000164818 NA NA NA NA NA 7p22.3 NA NA NA NA rs6943337 0.74 0.74 0.731 0.758986 0.827 0.6181 0.7781 0.7209 0.8722 0.81 0.63 0.75 0.76 0.8385 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 -0.44561 NA NA 0.82589 0.725374 NA 0.659 NA 1.50861 1509 10 126093991 126093991 T C intronic OAT NA NA NA intronic ENSG00000065154 NA NA NA NA NA 10q26.13 NA NA NA NA rs9422807 0.85 0.85 0.839 0.865815 0.8181 0.9653 0.8271 0.7769 0.9601 0.83 0.95 0.83 0.79 0.8526 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 -0.517563 NA NA 0.82093 0.784839 NA 0.841 NA 1.50837 1509 8 96070181 96070181 T C UTR3 NDUFAF6 NM_152416:c.*16T>C NA NA UTR3 ENSG00000156170 ENST00000396113:c.*16T>C,ENST00000396111:c.*16T>C,ENST00000396124:c.*16T>C NA NA NA NA 8q22.1 NA NA NA NA rs2678832 0.92 0.92 0.911 0.926518 0.9354 1 0.9337 0.8147 0.9877 0.94 1 0.93 0.8 0.9433 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.001702 NA NA 0.946887 0.850725 NA 0.942 NA 1.5077464 1509 22 45931262 45931262 C T intronic FBLN1 NA NA NA intronic ENSG00000077942 NA NA NA NA NA 22q13.31 NA NA NA NA rs2071938 0.78 0.78 0.788 0.779353 0.8608 0.8115 0.6527 0.6929 0.8691 0.86 0.83 0.69 0.67 0.8017 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 0.560977 NA NA 0.83093 0.718566 NA 0.826 NA 1.50657 1509 5 133909475 133909475 G A intronic PHF15 NA NA NA intronic ENSG00000043143 NA NA NA NA NA 5q31.1 NA NA NA NA rs329322 0.82 0.82 0.82 0.783347 0.8598 0.7073 0.9078 0.8775 0.5675 0.84 0.69 0.91 0.87 0.8037 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 -0.88251 NA NA 0.830465 0.858375 NA 0.812 NA 1.506035 1509 14 57876265 57876265 G A UTR3 NAA30 NM_001011713:c.*31G>A NA NA UTR3 ENSG00000139977 ENST00000555166:c.*31G>A,ENST00000556492:c.*31G>A,ENST00000554703:c.*140G>A,ENST00000298406:c.*31G>A NA NA NA NA 14q22.3 NA NA NA NA rs11620639 0.83 0.83 0.807 0.791134 0.9642 0.8393 0.9294 0.4947 0.8661 0.96 0.88 0.92 0.49 0.9055 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 -1.83121 NA NA 0.957907 0.578075 NA 0.768 NA 1.5057264 1509 4 186427841 186427841 T C intronic PDLIM3 NA NA NA intronic ENSG00000154553 NA NA NA NA NA 4q35.1 NA NA NA NA rs2306705 0.77 0.77 0.751 0.764177 0.826 0.8085 0.83 0.6785 0.7239 0.83 0.78 0.8 0.65 0.8137 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 -0.614514 NA NA 0.854884 0.705402 NA 0.681 NA 1.505416 1509 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 1509 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 1510 16 81094760 81094760 A G UTR3 C16orf46 NM_152337:c.*6T>C NA NA ncRNA_UTR3 ENSG00000166455 NA NA NA NA NA 16q23.2 NA NA NA NA rs804884 0.98 0.98 0.98 0.984225 1 1 0.9971 0.9418 1 1 1 1 0.93 0.995 1 NA NA 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 1 0.95277 NA 0.978 NA 1.505 1510 8 25174495 25174495 C T intronic DOCK5 NA NA NA intronic ENSG00000147459 NA NA NA NA NA 8p21.2 NA NA NA NA rs2666169 0.8 0.8 0.793 0.777955 0.8618 0.7698 0.8415 0.7678 0.6687 0.84 0.77 0.84 0.74 0.7922 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 0.719415 NA NA 0.841395 0.796414 NA 0.667 NA 1.504605 1510 1 93659350 93659350 A T intronic CCDC18 NA NA NA intronic ENSG00000122483 NA NA NA NA NA 1p22.1 NA NA NA NA rs2815411 0.86 0.86 0.852 0.885184 0.8091 1 0.8862 0.7844 0.9806 0.83 1 0.89 0.75 0.8615 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.405965 NA NA 0.824858 0.801408 NA 0.87 NA 1.504542 1510 17 6353679 6353679 A C intronic FAM64A NA NA NA UTR3 ENSG00000129195 ENST00000571572:c.*301A>C NA NA NA NA 17p13.2 NA NA NA NA rs7218283 0.89 0.89 0.898 0.890575 0.8936 0.8433 0.8631 0.9599 0.862 0.89 0.86 0.87 0.94 0.8824 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 1.41304 1.41304 NA 0.886249 0.951429 NA 0.884 NA 1.5044177 1510 1 150128425 150128425 C T intronic PLEKHO1 NA NA NA intronic ENSG00000023902 NA NA NA NA NA 1q21.2 NA NA NA NA rs1545762 0.77 0.77 0.724 0.766973 0.825 0.999 0.879 0.3336 0.9744 0.82 1 0.87 0.33 0.8383 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.978737 2.978737 NA 0.832558 0.460735 NA 0.703 NA 1.504142 1510 12 108943028 108943028 G A intronic SART3 NA NA NA intronic ENSG00000075856 NA NA NA NA NA 12q23.3 NA NA NA NA rs2052423 0.83 0.83 0.818 0.808307 0.831 0.9355 0.8343 0.6475 0.8528 0.83 0.92 0.84 0.71 0.8312 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 0.191707 NA NA 0.834535 0.668634 NA 0.812 NA 1.503265 1510 14 105622056 105622056 A G intronic JAG2 NA NA NA ncRNA_intronic ENSG00000257622 NA NA NA NA NA 14q32.33 NA NA NA NA rs2816679 0.97 0.97 0.962 0.974042 0.9394 1 0.9582 0.9977 0.9622 0.94 1 0.95 1 0.9565 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.432385 NA NA 0.936249 0.989323 NA 0.906 NA 1.5011843 1510 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 1510 14 106380174 106380174 C A intergenic ELK2AP,KIAA0125 dist=241030;dist=3664 NA NA downstream ENSG00000211930 NA NA NA NA NA 14q32.33 NA NA NA NA rs2157630 1 1 1 1 1 1 1 1 1 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 -2.919323 NA NA NA NA NA 0.565 NA 1.5 1510 1 202703053 202703053 G A intronic KDM5B NA NA NA intronic ENSG00000117139 NA NA NA NA NA 1q32.1 NA NA NA NA rs4310498 0.74 0.74 0.725 0.710663 0.831 0.8135 0.8631 0.4546 0.7188 0.85 0.81 0.84 0.43 0.8126 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 0.83914 NA NA 0.857126 0.501138 NA 0.63 NA 1.499274 1510 19 7831700 7831700 G C intronic CLEC4M NA NA NA intronic ENSG00000104938 NA NA NA NA NA 19p13.2 NA NA NA NA rs562607 0.79 0.79 0.782 0.720647 0.8529 0.5327 0.8401 0.8971 0.455 0.85 0.57 0.83 0.89 0.7886 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 0.034881 NA NA 0.860581 0.894689 NA 0.877 NA 1.497919 1510 13 50129615 50129615 A G intronic RCBTB1 NA NA NA intronic ENSG00000136144 NA NA NA NA NA 13q14.2 NA NA NA NA rs2274284 0.86 0.86 0.852 0.857029 0.8241 0.8889 0.8703 0.885 0.8108 0.84 0.89 0.85 0.88 0.8442 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 0.42688 NA NA 0.833953 0.887653 NA 0.855 NA 1.497747 1510 3 108096098 108096098 C G intronic HHLA2 NA NA NA UTR3 ENSG00000114455 ENST00000482099:c.*640C>G NA NA NA NA 3q13.13 NA NA NA NA rs1463426 0.7 0.7 0.685 0.694489 0.9274 0.2063 0.755 0.8638 0.6861 0.93 0.17 0.83 0.85 0.8229 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 -1.07429 NA NA 0.918968 0.884906 NA 0.783 NA 1.4973987 1510 3 175165201 175165201 T G intronic NAALADL2 NA NA NA intronic ENSG00000177694 NA NA NA NA NA 3q26.31 NA NA NA NA rs2161041 0.85 0.85 0.823 0.834665 0.834 0.9663 0.83 0.7292 0.8456 0.83 0.95 0.85 0.76 0.8349 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 0.855019 NA NA 0.833787 0.722376 NA 0.775 NA 1.497313 1510 16 57937895 57937895 G A intronic CNGB1 NA NA NA intronic ENSG00000070729 NA NA NA NA NA 16q21 NA NA NA NA rs437920 0.75 0.75 0.736 0.748403 0.8419 0.6548 0.7637 0.6392 0.8855 0.84 0.66 0.78 0.67 0.8121 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 -1.152662 NA NA 0.849267 0.689142 NA 0.703 NA 1.496733 1510 4 156847230 156847230 A G intronic CTSO NA NA NA intronic ENSG00000256043 NA NA NA NA NA 4q32.1 NA NA NA NA rs1543108 0.77 0.77 0.29 0.735024 0.8897 0.9087 0.8646 0.326 0.8579 0.9 0.91 0.88 0.33 0.8395 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 -1.305653 NA NA 0.774535 0.222878 NA 0.681 NA 1.496265 1510 3 49739507 49739507 G C intronic RNF123 NA NA NA intronic ENSG00000164068 NA NA NA NA NA 3p21.31 NA NA NA NA rs1491985 0.84 0.84 0.845 0.848442 0.834 0.9871 0.8573 0.6664 0.9601 0.84 1 0.86 0.67 0.8533 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.011157 NA NA 0.816512 0.695188 NA 0.819 NA 1.496188 1510 2 26818021 26818021 C T intronic CIB4 NA NA NA intronic ENSG00000157884 NA NA NA NA NA 2p23.3 NA NA NA NA rs1148963 0.76 0.76 0.716 0.719249 0.8529 0.9861 0.8458 0.2927 0.7935 0.85 0.99 0.83 0.3 0.8111 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 -0.731864 NA NA 0.84 0.388788 NA 0.703 NA 1.496 1510 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 1510 7 20778773 20778773 C G intronic ABCB5 NA NA NA intronic ENSG00000004846 NA NA NA NA NA 7p21.1 NA NA NA NA rs6461516 0.84 0.84 0.827 0.800519 0.834 0.8482 0.8862 0.7526 0.7209 0.83 0.89 0.89 0.77 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 -1.092477 NA NA 0.841977 0.775533 NA 0.819 NA 1.495023 1510 12 10241829 10241829 G T intronic CLEC1A NA NA NA intronic ENSG00000150048 NA NA NA NA NA 12p13.2 NA NA NA NA rs2277416 0.66 0.66 0.652 0.612819 0.8718 0.3512 0.5807 0.6838 0.5429 0.88 0.33 0.64 0.71 0.7532 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 0.912187 NA NA 0.88 0.726385 ID=COSM147433;OCCURENCE=1(stomach) 0.761 NA 1.495 1511 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 1511 8 87076150 87076150 C G intronic PSKH2 NA NA NA intronic ENSG00000147613,ENSG00000147614 NA NA NA NA NA 8q21.3 NA NA NA NA rs981711 0.77 0.77 0.769 0.71885 0.8539 0.8343 0.7032 0.5688 0.6748 0.85 0.87 0.7 0.57 0.7958 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 -0.553215 NA NA 0.860284 0.615962 ID=COSN168360;OCCURENCE=1(large_intestine) 0.768 NA 1.490016 1511 19 16797240 16797240 A G intronic TMEM38A NA NA NA intronic ENSG00000072954 NA NA NA NA NA 19p13.11 NA NA NA NA rs2249827 0.7 0.7 0.681 0.661741 0.8479 0.9087 0.7233 0.177 0.8272 0.84 0.92 0.75 0.2 0.7991 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 -0.748391 NA NA 0.86314 0.305719 NA 0.63 NA 1.48986 1511 19 16798927 16798927 T C intronic TMEM38A NA NA NA intronic ENSG00000072954 NA NA NA NA NA 19p13.11 NA NA NA NA rs2547112 0.72 0.72 0.686 0.677915 0.8479 0.9087 0.732 0.2345 0.8262 0.84 0.92 0.76 0.25 0.7994 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 0.083052 NA NA 0.862907 0.357921 NA 0.652 NA 1.489793 1511 17 26695704 26695704 A G intronic VTN NA NA NA ncRNA_intronic ENSG00000258924 NA NA NA NA NA 17q11.2 NA NA NA NA rs2227725 0.97 0.97 0.968 0.978634 0.9344 1 0.9597 0.9962 0.9918 0.94 1 0.95 0.99 0.9632 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.000746 NA NA 0.946512 0.992283 NA 0.971 NA 1.4892213 1511 7 29103867 29103867 T C intronic CPVL NA NA NA intronic ENSG00000106066 NA NA NA NA NA 7p14.3 NA NA NA NA rs644763 0.85 0.85 0.841 0.863419 0.8161 0.8512 0.8818 0.8517 0.9274 0.81 0.87 0.86 0.86 0.8565 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 -0.960856 NA NA 0.838837 0.860645 NA 0.877 NA 1.488563 1511 9 71555522 71555522 C T intronic PIP5K1B NA NA NA intronic ENSG00000107242 NA NA NA NA NA 9q21.11 NA NA NA NA rs10746974 0.73 0.73 0.697 0.707668 0.8588 0.6042 0.8934 0.5333 0.7628 0.87 0.6 0.9 0.53 0.8017 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 -1.215858 NA NA 0.85186 0.606446 NA 0.667 NA 1.48764 1511 12 1889823 1889823 G A intronic ADIPOR2 NA NA NA intronic ENSG00000006831 NA NA NA NA NA 12p13.33 NA NA NA NA rs767870 0.75 0.75 0.716 0.711462 0.8479 0.8889 0.8588 0.3147 0.82 0.84 0.91 0.84 0.34 0.8173 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 -2.669479 NA NA 0.847442 0.414435 NA 0.71 NA 1.487358 1511 1 227387361 227387361 A G intronic CDC42BPA NA NA NA intronic ENSG00000143776 NA NA NA NA NA 1q42.13 NA NA NA NA rs3768434 0.78 0.78 0.796 0.799321 0.8519 0.6577 0.7291 0.9168 0.7822 0.84 0.62 0.75 0.9 0.8029 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 -0.103811 NA NA 0.858939 0.892144 NA 0.775 NA 1.486261 1511 2 170139346 170139346 C T intronic LRP2 NA NA NA intronic ENSG00000081479 NA NA NA NA NA 2q31.1 NA NA NA NA rs831010 0.86 0.86 0.858 0.832268 0.8459 0.8998 0.8285 0.8298 0.7546 0.85 0.9 0.84 0.86 0.8298 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 -0.405444 NA NA 0.838837 0.804812 NA 0.833 NA 1.485463 1512 20 50071258 50071258 A G intronic NFATC2 NA NA NA intronic ENSG00000101096 NA NA NA NA NA 20q13.2 NA NA NA NA rs228840 0.78 0.78 0.788 0.775759 0.8529 0.7738 0.8401 0.6422 0.8333 0.86 0.76 0.81 0.66 0.8261 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 -0.403414 NA NA 0.836163 0.693827 NA 0.761 NA 1.484837 1512 5 58286625 58286625 C T intronic PDE4D NA NA NA intronic ENSG00000113448 NA NA NA NA NA 5q11.2 NA NA NA NA rs1553114 0.81 0.81 0.81 0.809305 0.83 0.8185 0.8775 0.7436 0.819 0.81 0.81 0.86 0.75 0.8384 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 0.088054 NA NA 0.847083 0.748366 NA 0.833 NA 1.484517 1512 11 92564767 92564767 T G intronic FAT3 NA NA NA intronic ENSG00000165323 NA NA NA NA NA 11q14.3 NA NA NA NA rs6483189 0.77 0.77 0.753 0.747204 0.8549 0.6548 0.8012 0.6657 0.8037 0.86 0.68 0.83 0.67 0.815 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 0.12189 NA NA 0.845678 0.718396 NA 0.819 NA 1.484422 1512 10 52576068 52576068 G A intronic A1CF NA NA NA intronic ENSG00000148584 NA NA NA NA NA 10q11.23 NA NA NA NA rs4245008 0.82 0.82 0.797 0.795128 0.838 0.9663 0.889 0.5946 0.7791 0.83 0.97 0.87 0.6 0.8277 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 0.626019 NA NA 0.850814 0.631185 NA 0.819 NA 1.483486 1512 19 16275515 16275515 A G intronic CIB3 NA NA NA intronic ENSG00000141977 NA NA NA NA NA 19p13.12 NA NA NA NA rs6512086 0.89 0.89 0.908 0.885982 0.835 0.9663 0.8991 0.9092 0.8149 0.83 0.97 0.87 0.91 0.8483 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 0.062886 NA NA 0.833372 0.901952 NA 0.87 NA 1.483328 1512 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 1512 15 93521651 93521651 T G intronic CHD2 NA NA NA intronic ENSG00000173575 NA NA NA NA NA 15q26.1 NA NA NA NA rs11074122 0.82 0.82 0.786 0.809704 0.8479 0.999 0.889 0.5204 0.91 0.84 0.99 0.86 0.54 0.8353 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 0.395598 NA NA 0.834225 0.563496 NA 0.754 NA 1.482575 1512 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 1512 3 118931389 118931389 C T UTR3 B4GALT4 NM_003778:c.*7G>A,NM_212543:c.*7G>A NA NA UTR3 ENSG00000121578 ENST00000483209:c.*7G>A,ENST00000467604:c.*3694G>A,ENST00000393765:c.*7G>A,ENST00000359213:c.*7G>A,ENST00000480814:c.*239G>A NA NA NA NA 3q13.32 NA NA NA NA rs6784208 0.92 0.92 0.926 0.903554 0.9662 0.999 0.7781 0.8094 0.9571 0.96 1 0.79 0.84 0.9285 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.533621 NA NA 0.957791 0.822288 NA 0.899 NA 1.4808424 1512 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 1512 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 1512 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 1512 6 155750219 155750219 G A intronic NOX3 NA NA NA intronic ENSG00000074771 NA NA NA NA NA 6q25.3 NA NA NA NA rs231955 0.9 0.9 0.914 0.919728 0.835 0.9633 0.8732 0.966 0.9325 0.85 0.96 0.84 0.95 0.8746 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 0.547293 NA NA 0.812791 0.944167 NA 0.913 NA 1.477609 1512 14 22972815 22972815 C T intergenic OR4E2,DAD1 dist=838577;dist=60992 NA NA downstream ENSG00000211852 NA NA NA NA NA 14q11.2 NA NA NA NA rs2170811 0.57 0.57 0.519 0.591254 0.665 0.5556 0.7752 0.3638 0.729 0.67 0.52 0.75 0.35 0.6734 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 -0.18971 NA NA 0.684642 0.426327 NA 0.63 NA 1.476958 1512 15 63953153 63953153 A G intronic HERC1 NA NA NA intronic ENSG00000103657 NA NA NA NA NA 15q22.31 NA NA NA NA rs2272209 0.65 0.65 0.644 0.635583 0.8966 0.0962 0.6484 0.8752 0.59 0.89 0.09 0.69 0.89 0.7479 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 2.337248 2.337248 NA 0.87878 0.852957 ID=COSN164974;OCCURENCE=1(breast) 0.638 NA 1.47672 1512 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 1512 2 65488538 65488538 G A intronic ACTR2 NA NA NA intronic ENSG00000138071 NA NA NA NA NA 2p14 NA NA NA NA rs268862 0.85 0.85 0.856 0.813299 0.8499 0.7768 0.781 0.907 0.7096 0.84 0.81 0.83 0.91 0.8269 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 0.479229 NA NA 0.84814 0.899682 NA 0.848 NA 1.47506 1513 3 195300676 195300676 A G intronic APOD NA NA NA intronic ENSG00000189058 NA NA NA NA NA 3q29 NA NA NA NA rs1568566 0.91 0.91 0.923 0.872404 0.8509 0.9891 0.7522 0.9947 0.6943 0.85 0.99 0.77 0.99 0.8359 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 1.676604 1.676604 NA 0.838488 0.967998 NA 0.928 NA 1.474712 1513 1 29557224 29557224 C T intronic MECR NA NA NA intronic ENSG00000116353 NA NA NA NA NA 1p35.3 NA NA NA NA rs2640466 0.72 0.72 0.715 0.700479 0.8579 0.5625 0.7161 0.6853 0.6902 0.86 0.54 0.75 0.7 0.7924 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 3.660184 3.660184 NA 0.875237 0.734404 NA 0.688 NA 1.474463 1513 6 90432662 90432662 C T intronic MDN1 NA NA NA intronic ENSG00000112159 NA NA NA NA NA 6q15 NA NA NA NA rs756363 0.88 0.88 0.866 0.880791 0.838 0.997 0.902 0.8018 0.8967 0.84 1 0.88 0.79 0.8567 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.089861 NA NA 0.83093 0.798457 NA 0.855 NA 1.47437 1513 10 134038715 134038715 A G intronic STK32C NA NA NA intronic ENSG00000165752 NA NA NA NA NA 10q26.3 NA NA NA NA rs902629 0.89 0.89 0.881 0.901957 0.8231 0.9643 0.9092 0.9455 0.8548 0.82 0.95 0.9 0.92 0.8662 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 -0.534178 NA NA 0.836478 0.929516 NA 0.841 NA 1.474222 1513 6 90437699 90437699 G A intronic MDN1 NA NA NA intronic ENSG00000112159 NA NA NA NA NA 6q15 NA NA NA NA rs7767196 0.88 0.88 0.865 0.877596 0.837 0.997 0.902 0.7905 0.8967 0.84 1 0.89 0.8 0.857 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.965171 NA NA 0.832326 0.789605 NA 0.848 NA 1.473674 1513 16 4945221 4945221 A G intronic PPL NA NA NA intronic ENSG00000118898 NA NA NA NA NA 16p13.3 NA NA NA NA rs12709119 0.69 0.69 0.672 0.674521 0.8668 0.75 0.7277 0.3608 0.7853 0.86 0.73 0.74 0.36 0.7961 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 0.248426 NA NA 0.863774 0.428311 NA 0.674 NA 1.473326 1513 19 7916475 7916475 T C intronic EVI5L NA NA NA intronic ENSG00000142459 NA NA NA NA NA 19p13.2 NA NA NA NA rs2452012 0.78 0.78 0.74 0.768171 0.8429 0.7034 0.8473 0.6346 0.8824 0.84 0.76 0.86 0.65 0.8341 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 -0.211189 NA NA 0.850116 0.681117 NA 0.833 NA 1.472884 1513 11 62744899 62744899 A G intronic SLC22A6 NA NA NA intronic ENSG00000197901 NA NA NA NA NA 11q12.3 NA NA NA NA rs3017670 0.86 0.86 0.873 0.845647 0.8419 0.8065 0.7075 0.9728 0.816 0.84 0.84 0.77 0.98 0.8385 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 0.567296 NA NA 0.846718 0.947153 NA 0.92 NA 1.472882 1513 9 131772389 131772389 T G intronic SH3GLB2 NA NA NA intronic ENSG00000148341 NA NA NA NA NA 9q34.11 NA NA NA NA rs3750340 0.81 0.81 0.825 0.837859 0.8489 0.6617 0.7882 0.9902 0.8374 0.84 0.68 0.78 0.96 0.8359 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 0.737062 NA NA 0.842907 0.961189 NA 0.906 NA 1.472293 1513 15 68624641 68624641 A C intronic ITGA11 NA NA NA intronic ENSG00000137809 NA NA NA NA NA 15q23 NA NA NA NA rs6494733 0.88 0.88 0.855 0.896166 0.8439 0.9157 0.9078 0.8911 0.9284 0.84 0.92 0.9 0.89 0.8579 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 0.710239 NA NA 0.826208 0.884865 NA 0.826 NA 1.471992 1513 17 12647490 12647490 T C intronic MYOCD NA NA NA intronic ENSG00000141052 NA NA NA NA NA 17p12 NA NA NA NA rs12709295 0.77 0.77 0.743 0.755791 0.8698 0.7173 0.7334 0.7224 0.7393 0.87 0.72 0.79 0.67 0.8101 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 1.89616 1.89616 NA 0.848372 0.74966 NA 0.841 NA 1.471728 1513 21 38850640 38850640 G A intronic DYRK1A NA NA NA intronic ENSG00000157540 NA NA NA NA NA 21q22.13 NA NA NA NA rs928763 0.91 0.91 0.909 0.899561 0.83 0.998 0.8991 0.9017 0.8671 0.84 1 0.89 0.93 0.8649 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.435707 NA NA 0.83407 0.897413 NA 0.935 NA 1.47103 1513 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 1513 6 90415764 90415764 A G intronic MDN1 NA NA NA intronic ENSG00000112159 NA NA NA NA NA 6q15 NA NA NA NA rs7743484 0.89 0.89 0.867 0.898962 0.838 0.997 0.915 0.8638 0.8967 0.84 1 0.9 0.85 0.8627 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.050471 NA NA 0.831047 0.868815 NA 0.862 NA 1.468253 1513 3 108147295 108147295 C A intronic MYH15 NA NA NA intronic ENSG00000144821 NA NA NA NA NA 3q13.13 NA NA NA NA rs1350235 0.73 0.73 0.734 0.739217 0.8668 0.4752 0.7795 0.795 0.7761 0.88 0.42 0.8 0.82 0.7997 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 -0.055222 NA NA 0.866529 0.811011 NA 0.754 NA 1.466971 1513 14 23302585 23302585 T A intronic MRPL52 NA NA NA intronic ENSG00000172590 NA NA NA NA NA 14q11.2 NA NA NA NA rs12050397 0.89 0.89 0.878 0.867412 0.84 0.998 0.866 0.8328 0.8088 0.83 1 0.88 0.85 0.8523 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.504938 NA NA 0.840814 0.825011 NA 0.877 NA 1.466886 1513 12 21013948 21013948 C T intronic SLCO1B3 NA NA NA intronic ENSG00000111700,ENSG00000205754,ENSG00000257046 NA NA NA NA NA 12p12.2 NA NA NA NA rs3764009 0.71 0.71 0.681 0.702276 0.8638 0.6984 0.8372 0.3555 0.9131 0.85 0.72 0.86 0.38 0.8066 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 -0.269032 NA NA 0.863147 0.448064 NA 0.688 NA 1.466453 1513 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 1513 16 112513 112513 T C intronic RHBDF1 NA NA NA intronic ENSG00000007384 NA NA NA NA NA 16p13.3 NA NA NA NA rs216604 0.84 0.84 0.825 0.866214 0.83 0.746 0.8746 0.9713 0.8793 0.83 0.72 0.88 0.97 0.861 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 0.288778 NA NA 0.843495 0.955394 NA 0.884 NA 1.465505 1513 19 17777431 17777431 A G intronic UNC13A NA NA NA intronic ENSG00000130477 NA NA NA NA NA 19p13.11 NA NA NA NA rs10424761 0.75 0.75 0.742 0.752396 0.8688 0.5139 0.6585 0.8752 0.7791 0.87 0.5 0.72 0.88 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 0.700652 NA NA 0.865722 0.864213 NA 0.812 NA 1.465478 1513 10 129249701 129249701 C G UTR3 DOCK1 NM_001380:c.*10C>G NA NA UTR3 ENSG00000150760 ENST00000280333:c.*10C>G NA NA NA NA 10q26.2 NA NA NA NA rs2229606 0.87 0.87 0.858 0.855032 0.9761 0.9127 0.9409 0.6089 0.9427 0.98 0.93 0.94 0.6 0.9258 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 -0.574826 NA NA 0.966184 0.668481 NA 0.819 NA 1.4652494 1514 12 53204614 53204614 C T intronic KRT4 NA NA NA intronic ENSG00000170477 NA NA NA NA NA 12q13.13 NA NA NA NA rs2307027 0.84 0.84 0.826 0.823482 0.8509 0.8552 0.8285 0.7905 0.8037 0.85 0.87 0.85 0.8 0.8317 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 0.248452 NA NA 0.853292 0.798541 NA 0.826 NA 1.464108 1514 8 132980709 132980709 G A intronic EFR3A NA NA NA intronic ENSG00000132294 NA NA NA NA NA 8q24.22 NA NA NA NA rs6471017 0.91 0.91 0.916 0.922923 0.8459 0.9335 0.9366 0.9932 0.8865 0.84 0.94 0.93 0.98 0.8632 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 -0.948645 NA NA 0.828332 0.963232 NA 0.957 NA 1.462568 1514 15 34146922 34146922 C T intronic RYR3 NA NA NA intronic ENSG00000198838 NA NA NA NA NA 15q14 NA NA NA NA rs713203 0.88 0.88 0.868 0.885982 0.8479 0.9931 0.8761 0.8162 0.9162 0.86 0.99 0.85 0.81 0.8638 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 0.732414 NA NA 0.825809 0.818486 NA 0.819 NA 1.462491 1514 6 2948965 2948965 C T intronic SERPINB6 NA NA NA intronic ENSG00000124570 NA NA NA NA NA 6p25.2 NA NA NA NA rs318426 0.88 0.88 0.89 0.884185 0.8469 0.9663 0.8473 0.8343 0.9315 0.85 0.96 0.83 0.84 0.8613 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 0.599261 NA NA 0.829535 0.852474 NA 0.775 NA 1.462265 1514 3 133692497 133692497 A G intronic SLCO2A1 NA NA NA intronic ENSG00000174640 NA NA NA NA NA 3q22.1 NA NA NA NA rs4634113 0.9 0.9 0.899 0.904553 0.8181 0.9812 0.9236 0.9244 0.8742 0.83 0.98 0.91 0.92 0.8743 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 2.669978 2.669978 NA 0.84686 0.917385 NA 0.87 NA 1.46074 1514 8 21937667 21937667 T C intronic EPB49 NA NA NA intronic ENSG00000158856 NA NA NA NA NA 8p21.3 NA NA NA NA rs6557781 0.85 0.85 0.857 0.833267 0.8479 0.9802 0.8141 0.7171 0.8374 0.84 0.99 0.8 0.75 0.8378 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 0.12577 NA NA 0.853605 0.72946 NA 0.768 NA 1.460695 1514 16 110165 110165 T C intronic RHBDF1 NA NA NA intronic ENSG00000007384 NA NA NA NA NA 16p13.3 NA NA NA NA rs216600 0.84 0.84 0.824 0.867812 0.831 0.747 0.8732 0.9728 0.8845 0.83 0.72 0.88 0.97 0.8633 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 0.783732 NA NA 0.845116 0.95665 NA 0.891 NA 1.460584 1514 1 113658887 113658887 G A intronic LRIG2 NA NA NA intronic ENSG00000198799 NA NA NA NA NA 1p13.2 NA NA NA NA rs1216791 0.79 0.79 0.774 0.789936 0.8539 0.9266 0.7939 0.5408 0.9172 0.86 0.96 0.79 0.51 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 2.273188 2.273188 NA 0.848023 0.60168 NA 0.746 NA 1.459477 1514 12 10511662 10511662 C T intergenic KLRD1,KLRC4-KLRK1 dist=41812;dist=13290 NA NA ncRNA_intronic ENSG00000256155 NA NA NA NA NA 12p13.2 NA NA NA NA rs10743886 0.89 0.89 0.9 0.892772 0.84 0.9325 0.8934 0.8578 0.953 0.84 0.94 0.87 0.91 0.862 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 -0.914289 NA NA 0.838628 0.865561 NA 0.819 NA 1.459372 1514 6 2953445 2953445 A G intronic SERPINB6 NA NA NA intronic ENSG00000124570 NA NA NA NA NA 6p25.2 NA NA NA NA rs3818276 0.89 0.89 0.906 0.897364 0.8469 0.9653 0.853 0.882 0.9315 0.85 0.96 0.84 0.89 0.8646 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 0.506054 NA NA 0.829419 0.884249 NA 0.819 NA 1.459081 1514 9 140110274 140110274 T C intronic NDOR1 NA NA NA intronic ENSG00000188566 NA NA NA NA NA 9q34.3 NA NA NA NA rs7390663 0.9 0.9 0.899 0.899161 0.838 0.9147 0.9424 0.9228 0.8834 0.84 0.93 0.94 0.95 0.8635 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 -0.39207 NA NA 0.841401 0.923042 NA 0.928 NA 1.457099 1514 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 1514 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 1514 1 78383467 78383467 G A intronic NEXN NA NA NA intronic ENSG00000162614 NA NA NA NA NA 1p31.1 NA NA NA NA rs1749913 0.79 0.79 0.807 0.763778 0.8708 0.7669 0.7579 0.7095 0.728 0.87 0.81 0.75 0.7 0.8117 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 -0.854875 NA NA 0.860829 0.745506 NA 0.812 NA 1.456671 1514 6 90405306 90405306 T A intronic MDN1 NA NA NA intronic ENSG00000112159 NA NA NA NA NA 6q15 NA NA NA NA rs9294446 0.92 0.92 0.925 0.933906 0.838 0.997 0.928 0.9894 0.8967 0.84 1 0.91 0.98 0.8739 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.240052 NA NA 0.831512 0.96709 NA 0.92 NA 1.456588 1514 14 91942342 91942342 T A intronic SMEK1 NA NA NA intronic ENSG00000100796 NA NA NA NA NA 14q32.12 NA NA NA NA rs10145724 0.92 0.92 0.914 0.917931 0.8449 0.9702 0.8934 0.9667 0.8906 0.85 0.98 0.87 0.98 0.8744 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 0.373136 NA NA 0.824651 0.948025 NA 0.833 NA 1.456049 1514 1 174417231 174417231 G A UTR5 GPR52 NM_005684:c.-19G>A NA NA UTR5 ENSG00000203737 ENST00000367685:c.-19G>A NA NA NA NA 1q25.1 NA NA NA NA rs7516240 0.98 0.98 0.978 0.985224 0.9543 1 0.9769 0.9977 0.9908 0.96 1 0.96 1 0.9677 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.094693 NA NA 0.955698 0.993872 NA 0.993 NA 1.4556354 1515 2 67637196 67637196 G A UTR3 ETAA1 NM_019002:c.*26G>A NA NA UTR3 ENSG00000143971 ENST00000272342:c.*26G>A NA NA NA NA 2p14 NA NA NA NA rs1569 0.98 0.98 0.982 0.986022 0.9622 1 0.9813 0.9985 0.9826 0.96 1 0.98 1 0.966 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.858887 NA NA 0.950814 0.989101 NA 0.949 NA 1.4543194 1515 20 62193414 62193414 A G intronic HELZ2 NA NA NA intronic ENSG00000130589 NA NA NA NA NA 20q13.33 NA NA NA NA rs310629 0.89 0.89 0.885 0.919928 0.8151 0.999 0.8775 0.9191 0.9775 0.81 1 0.86 0.92 0.8798 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.573747 NA NA 0.851128 0.906441 NA 0.565 NA 1.453972 1515 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 1515 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 1515 5 141364511 141364511 A G intronic RNF14 NA NA NA intronic ENSG00000013561 NA NA NA NA NA 5q31.3 NA NA NA NA rs252099 0.9 0.9 0.905 0.913339 0.831 0.9831 0.915 0.9349 0.8957 0.81 0.98 0.89 0.94 0.8763 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 1.664154 1.664154 NA 0.83907 0.92601 NA 0.848 NA 1.45363 1515 4 156757818 156757818 A C intronic ASIC5 NA NA NA intronic ENSG00000256394 NA NA NA NA NA 4q32.1 NA NA NA NA rs1399046 0.73 0.73 0.707 0.685304 0.8618 0.872 0.7781 0.3336 0.7209 0.87 0.88 0.79 0.32 0.8073 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 0.079151 NA NA 0.877938 0.442818 NA 0.674 NA 1.452962 1515 2 239025523 239025523 T C intronic ESPNL NA NA NA intronic ENSG00000144488 NA NA NA NA NA 2q37.3 NA NA NA NA rs11903074 0.8 0.8 0.82 0.842851 0.8608 0.8234 0.7939 0.8722 0.8395 0.82 0.79 0.78 0.82 0.8368 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 0.000225 NA NA 0.849698 0.855747 NA 0.848 NA 1.452702 1515 19 14875201 14875201 G T intronic EMR2 NA NA NA intronic ENSG00000127507 NA NA NA NA NA 19p13.12 NA NA NA NA rs7253782 0.9 0.9 NA 0.889976 0.8489 0.9097 0.9121 0.9024 0.8793 0.86 0.93 0.91 0.91 0.8612 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 0.108187 NA NA 0.837599 0.889091 NA 0.833 NA 1.452301 1515 12 40037727 40037727 A G intronic C12orf40 NA NA NA intronic ENSG00000180116 NA NA NA NA NA 12q12 NA NA NA NA rs10735878 0.75 0.75 0.717 0.717452 0.8718 0.6022 0.8069 0.649 0.7065 0.86 0.63 0.83 0.66 0.8092 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 -0.168578 NA NA 0.866741 0.675028 NA 0.703 NA 1.452259 1515 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 1515 19 52002488 52002488 C A intronic SIGLEC12 NA NA NA intronic ENSG00000254521 NA NA NA NA NA 19q13.41 NA NA NA NA rs968491 0.8 0.8 0.83 0.825479 0.8569 0.5149 0.9035 0.9713 0.8609 0.85 0.53 0.91 0.97 0.8397 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 -1.369454 NA NA 0.852907 0.946664 ID=COSN165894;OCCURENCE=1(breast) 0.884 NA 1.450493 1515 5 10227548 10227548 C A UTR3 FAM173B NM_001258388:c.*5G>T,NM_199133:c.*5G>T,NM_001258389:c.*186G>T NA NA UTR3 ENSG00000150756 ENST00000280330:c.*5G>T,ENST00000511437:c.*5G>T,ENST00000510047:c.*5G>T NA NA NA NA 5p15.2 NA NA NA NA rs2136197 0.95 0.95 0.969 0.945687 0.9662 0.8601 0.987 1 0.91 0.96 0.88 0.99 1 0.9526 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.302815 NA NA 0.965572 0.992068 NA 0.971 NA 1.4489614 1515 9 99013663 99013663 A G intronic HSD17B3 NA NA NA intronic ENSG00000130948 NA NA NA NA NA 9q22.32 NA NA NA NA rs408876 0.88 0.88 0.883 0.867412 0.8648 0.8373 0.8357 0.9826 0.7679 0.86 0.85 0.85 0.98 0.848 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 0.028938 NA NA 0.838256 0.962324 NA 0.87 NA 1.448944 1515 19 17643065 17643065 T C intronic FAM129C NA NA NA intronic ENSG00000167483 NA NA NA NA NA 19p13.11 NA NA NA NA rs12984143 0.73 0.73 0.752 0.744209 0.8748 0.5179 0.7911 0.8154 0.7137 0.86 0.46 0.82 0.8 0.8124 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 -0.11587 NA NA 0.86593 0.806854 NA 0.797 NA 1.44687 1515 16 55583149 55583149 T A intronic LPCAT2 NA NA NA intronic ENSG00000087253 NA NA NA NA NA 16q12.2 NA NA NA NA rs2160277 0.73 0.73 NA 0.832268 0.9354 0.8234 0.9294 0.6906 0.8579 0.76 0.74 0.81 0.6 0.8041 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 -1.087577 NA NA 0.814043 0.730206 NA 0.21 NA 1.446457 1515 17 7811998 7811998 T C intronic CHD3 NA NA NA intronic ENSG00000170004 NA NA NA NA NA 17p13.1 NA NA NA NA rs4239111 0.92 0.92 0.928 0.944888 0.835 1 0.9063 0.9932 0.9632 0.83 1 0.86 0.99 0.8852 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.247718 3.247718 NA 0.834302 0.969814 NA 0.92 NA 1.445498 1516 19 50805138 50805138 C T intronic MYH14 NA NA NA intronic ENSG00000105357 NA NA NA NA NA 19q13.33 NA NA NA NA rs3826772 0.76 0.76 0.714 0.750799 0.8658 0.8056 0.8012 0.5908 0.7566 0.87 0.75 0.79 0.56 0.83 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 -0.982593 NA NA 0.859264 0.664025 NA 0.667 NA 1.444936 1516 16 71701248 71701248 G A intronic PHLPP2 NA NA NA intronic ENSG00000040199 NA NA NA NA NA 16q22.2 NA NA NA NA rs1423983 0.87 0.87 0.87 0.898163 0.84 0.9911 0.9092 0.8056 0.9796 0.83 0.99 0.91 0.78 0.8772 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 -0.185483 NA NA 0.838605 0.817334 NA 0.826 NA 1.444195 1516 10 70051810 70051810 A G intronic PBLD NA NA NA intronic ENSG00000108187 NA NA NA NA NA 10q21.3 NA NA NA NA rs3835100 0.8 0.8 0.872 0.76258 0.8529 0.8591 0.7334 0.6392 0.7577 0.85 0.86 0.78 0.66 0.8066 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 0.699303 NA NA 0.896977 0.674989 NA 0.768 NA 1.443523 1516 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 1516 13 99115927 99115927 A G intronic STK24 NA NA NA intronic ENSG00000102572 NA NA NA NA NA 13q32.2 NA NA NA NA rs2296149 0.78 0.78 0.793 0.735823 0.8678 0.7212 0.6311 0.789 0.6176 0.86 0.7 0.71 0.82 0.8031 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 -0.586606 NA NA 0.886628 0.797776 NA 0.797 NA 1.442472 1516 1 27426796 27426796 T C UTR3 SLC9A1 NM_003047:c.*2A>G NA NA UTR3 ENSG00000090020 ENST00000263980:c.*2A>G,ENST00000545949:c.*2A>G NA NA NA NA 1p36.11 NA NA NA NA rs4266911 0.98 0.98 0.983 0.98742 0.9632 1 0.9784 0.9939 0.9969 0.96 1 0.98 0.99 0.9685 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.466213 NA NA 0.959632 0.990014 NA 0.783 NA 1.4420014 1516 18 6985506 6985506 T C intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs616722 0.8 0.8 0.841 0.851438 0.838 0.9891 0.866 0.7057 0.91 0.81 0.94 0.79 0.63 0.8666 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 -0.664969 NA NA 0.853721 0.727644 NA 0.413 NA 1.441679 1516 1 67560897 67560897 A G intronic C1orf141 NA NA NA intronic ENSG00000203963 NA NA NA NA NA 1p31.3 NA NA NA NA rs10889653 0.9 0.9 0.899 0.932308 0.8141 0.9722 0.915 0.9644 0.9816 0.81 0.97 0.91 0.96 0.888 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 0.701393 NA NA 0.856827 0.94346 NA 0.906 NA 1.441073 1516 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 1516 17 41846964 41846964 T C UTR3 DUSP3 NM_004090:c.*13A>G NA NA UTR3 ENSG00000108861 ENST00000226004:c.*13A>G,ENST00000590753:c.*13A>G,ENST00000590935:c.*185A>G,ENST00000590342:c.*718A>G,ENST00000397937:c.*13A>G NA NA NA NA 17q21.31 NA NA NA NA rs1230403 0.99 0.99 0.987 0.988618 0.9642 1 0.9856 1 0.9888 0.97 1 0.99 1 0.9746 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.370337 1.370337 NA 0.954292 0.98956 NA 0.986 NA 1.4402414 1516 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 1516 19 5766090 5766090 T C intronic CATSPERD NA NA NA intronic ENSG00000174898 NA NA NA NA NA 19p13.3 NA NA NA NA rs2446200 0.77 0.77 0.772 0.755192 0.8777 0.6597 0.7896 0.6657 0.8241 0.88 0.65 0.84 0.69 0.8172 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 -0.073296 NA NA 0.865486 0.716953 NA 0.877 NA 1.439614 1516 11 117034619 117034619 G T intronic PAFAH1B2 NA NA NA intronic ENSG00000168092 NA NA NA NA NA 11q23.3 NA NA NA NA rs7122944 0.77 0.77 0.774 0.750399 0.8618 0.494 0.7983 0.91 0.6503 0.86 0.51 0.83 0.89 0.8134 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 1.95612 1.95612 NA 0.88629 0.893685 NA 0.855 NA 1.43851 1516 3 139102120 139102120 C A intronic COPB2 NA NA NA intronic ENSG00000184432 NA NA NA NA NA 3q23 NA NA NA NA rs7373302 0.78 0.78 0.735 0.738818 0.8668 0.9435 0.8573 0.3616 0.8221 0.88 0.95 0.83 0.39 0.8348 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 1.22668 NA NA 0.860465 0.439401 NA 0.688 NA 1.437935 1516 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 1516 7 101200835 101200835 A G UTR3 COL26A1 NM_133457:c.*25A>G NA NA UTR3 ENSG00000160963 ENST00000397927:c.*25A>G,ENST00000313669:c.*25A>G,ENST00000528707:c.*25A>G NA NA NA NA 7q22.1 NA NA NA NA rs7809926 0.97 0.97 0.967 0.980431 0.9563 0.999 0.9784 0.9818 0.9857 0.96 1 0.97 0.97 0.9736 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.032797 NA NA 0.967336 0.978239 NA 0.949 NA 1.4360974 1516 11 71727422 71727422 A C intronic NUMA1 NA NA NA ncRNA_exonic ENSG00000251143 NA NA NA NA NA 11q13.4 NA NA NA NA rs1057992 0.9 0.9 0.905 0.899361 0.9781 0.8641 0.8501 0.913 0.8712 0.98 0.84 0.86 0.89 0.941 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 -1.51264 NA NA 0.97822 0.919091 NA 0.949 NA 1.4360133 1516 17 8159232 8159232 A G intronic PFAS NA NA NA intronic ENSG00000178921 NA NA NA NA NA 17p13.1 NA NA NA NA rs7221716 0.79 0.79 0.758 0.784345 0.8757 0.6468 0.8646 0.7519 0.819 0.89 0.7 0.86 0.7 0.8363 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 0.71594 NA NA 0.852558 0.788243 NA 0.804 NA 1.435442 1516 18 6985655 6985655 C T intronic LAMA1 NA NA NA intronic ENSG00000101680 NA NA NA NA NA 18p11.31 NA NA NA NA rs617573 0.86 0.86 0.856 0.851637 0.838 0.9891 0.866 0.7065 0.91 0.85 0.99 0.85 0.73 0.8667 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 -0.614619 NA NA 0.86 0.739673 NA 0.703 NA 1.4353 1516 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 1517 2 174230153 174230153 C G intronic CDCA7 NA NA NA intronic ENSG00000144354 NA NA NA NA NA 2q31.1 NA NA NA NA rs2288993 0.87 0.87 0.874 0.874601 0.8549 0.9742 0.83 0.8306 0.8834 0.86 0.97 0.84 0.8 0.8633 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 -0.249197 NA NA 0.847209 0.829551 NA 0.899 NA 1.434591 1517 16 21136477 21136477 A G intronic DNAH3 NA NA NA ncRNA_intronic ENSG00000263331 NA NA NA NA NA 16p12.3 NA NA NA NA rs7191215 0.98 0.98 0.981 0.984824 0.9622 1 0.9798 0.9985 0.9775 0.96 1 0.98 1 0.9727 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179752 NA NA 0.963953 0.995684 NA 0.986 NA 1.4344803 1517 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 1517 19 6833777 6833777 A G intronic VAV1 NA NA NA intronic ENSG00000141968 NA NA NA NA NA 19p13.3 NA NA NA NA rs186295 0.82 0.82 0.824 0.840655 0.839 0.7599 0.8415 0.8654 0.8916 0.82 0.73 0.85 0.88 0.8539 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 0.142809 NA NA 0.873488 0.885837 NA 0.891 NA 1.433612 1517 12 7805467 7805467 C T intronic APOBEC1 NA NA NA intronic ENSG00000111701 NA NA NA NA NA 12p13.31 NA NA NA NA rs2080127 0.68 0.68 0.652 0.648363 0.8936 0.5546 0.6196 0.4592 0.7689 0.89 0.57 0.7 0.49 0.7821 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 0.466151 NA NA 0.891806 0.537706 NA 0.652 NA 1.432494 1517 6 106992844 106992844 C G intronic AIM1 NA NA NA intronic ENSG00000112297 NA NA NA NA NA 6q21 NA NA NA NA rs2066201 0.85 0.85 0.823 0.833666 0.839 0.9345 0.8674 0.646 0.954 0.84 0.95 0.87 0.7 0.8683 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 1.024712 NA NA 0.860233 0.674989 NA 0.848 NA 1.432467 1517 1 43777852 43777852 C T intronic TIE1 NA NA NA intronic ENSG00000066056 NA NA NA NA NA 1p34.2 NA NA NA NA rs1999595 0.82 0.82 0.812 0.810503 0.8628 0.8373 0.8487 0.6936 0.8599 0.86 0.81 0.86 0.76 0.84 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 -0.776393 NA NA 0.864821 0.718665 NA 0.732 NA 1.432379 1517 20 45856045 45856045 A G intronic ZMYND8 NA NA NA intronic ENSG00000101040 NA NA NA NA NA 20q13.12 NA NA NA NA rs1124178 0.9 0.9 0.9 0.895966 0.8459 0.9425 0.8818 0.9554 0.8292 0.84 0.93 0.9 0.97 0.8667 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 -0.862465 NA NA 0.855698 0.92828 NA 0.913 NA 1.431702 1517 19 2916048 2916048 T A intronic ZNF57 NA NA NA ncRNA_intronic ENSG00000253392 NA NA NA NA NA 19p13.3 NA NA NA NA rs2043335 0.9 0.9 0.91 0.892572 0.9811 0.7063 0.9265 0.9607 0.8773 0.98 0.74 0.94 0.95 0.9416 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 -0.460821 NA NA 0.979884 0.963459 NA 0.913 NA 1.4307493 1517 6 106992592 106992592 A T intronic AIM1 NA NA NA intronic ENSG00000112297 NA NA NA NA NA 6q21 NA NA NA NA rs2247335 0.85 0.85 0.818 0.833466 0.839 0.9345 0.8674 0.6452 0.954 0.84 0.95 0.87 0.7 0.8694 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 0.295884 NA NA 0.86093 0.674081 NA 0.841 NA 1.43067 1517 12 11462275 11462275 A G intronic PRB4 NA NA NA intronic ENSG00000230657 NA NA NA NA NA 12p13.2 NA NA NA NA rs1834857 0.8 0.8 0.783 0.776358 0.8847 0.8224 0.866 0.649 0.726 0.88 0.81 0.87 0.62 0.8275 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 -0.604429 NA NA 0.857791 0.689741 NA 0.819 NA 1.430009 1517 12 72388374 72388374 G T intronic TPH2 NA NA NA intronic ENSG00000139287 NA NA NA NA NA 12q21.1 NA NA NA NA rs1007023 0.86 0.86 0.863 0.879792 0.8559 0.9454 0.8545 0.8253 0.9284 0.85 0.94 0.83 0.83 0.8712 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 0.42677 NA NA 0.843488 0.806627 NA 0.841 NA 1.429412 1517 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 1517 1 62393394 62393394 A G intronic INADL NA NA NA intronic ENSG00000132849 NA NA NA NA NA 1p31.3 NA NA NA NA rs2251182 0.87 0.87 0.855 0.846645 0.8499 0.8125 0.9193 0.8707 0.7945 0.85 0.87 0.91 0.87 0.8561 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 -1.028782 NA NA 0.865814 0.874943 NA 0.797 NA 1.428186 1517 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 1517 17 18003671 18003671 T G intronic DRG2 NA NA NA UTR3 ENSG00000108591 ENST00000582314:c.*823T>G,ENST00000467099:c.*839T>G NA NA NA NA 17p11.2 NA NA NA NA rs2272570 0.89 0.89 0.878 0.904952 0.9085 0.8284 0.8833 0.9297 0.9622 0.91 0.83 0.87 0.92 0.9095 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 0.782409 NA NA 0.920698 0.929868 NA 0.92 NA 1.4279687 1517 9 7798518 7798518 G C UTR3 C9orf123 NM_033428:c.*55C>G NA NA UTR3 ENSG00000137038 ENST00000358227:c.*55C>G NA NA NA NA 9p24.1 NA NA NA NA rs4742410 0.91 0.91 0.913 0.913738 0.9712 0.8294 0.9784 0.9115 0.8988 0.97 0.8 0.98 0.92 0.9548 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 1.060867 NA NA 0.979573 0.937139 NA 0.899 NA 1.4277604 1517 9 131388643 131388643 C T intronic SPTAN1 NA NA NA intronic ENSG00000197694 NA NA NA NA NA 9q34.11 NA NA NA NA rs3737308 0.65 0.65 0.609 0.611422 0.8807 0.5218 0.7795 0.3011 0.727 0.88 0.51 0.81 0.33 0.7915 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 -0.354436 NA NA 0.900698 0.377894 NA 0.594 NA 1.427102 1517 3 123378534 123378534 C G intronic MYLK NA NA NA intronic ENSG00000065534 NA NA NA NA NA 3q21.1 NA NA NA NA rs39639 0.57 0.57 0.556 0.541534 0.9125 0.3601 0.6542 0.2254 0.6943 0.9 0.33 0.71 0.26 0.7588 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 -0.162522 NA NA 0.902562 0.319635 NA 0.609 NA 1.426138 1517 17 57725043 57725043 T G intronic CLTC NA NA NA intronic ENSG00000141367 NA NA NA NA NA 17q23.1 NA NA NA NA rs8071749 0.9 0.9 0.887 0.895367 0.8549 0.9425 0.8084 0.91 0.9305 0.87 0.95 0.85 0.91 0.8708 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 0.610862 NA NA 0.849186 0.887653 NA 0.841 NA 1.425114 1517 19 3113305 3113305 G C intronic GNA11 NA NA NA intronic ENSG00000088256 NA NA NA NA NA 19p13.3 NA NA NA NA rs1682811 0.86 0.86 0.891 0.835663 0.8638 0.7659 0.9092 0.9138 0.7209 0.86 0.79 0.92 0.91 0.85 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 0.024836 NA NA 0.861163 0.90168 NA 0.92 NA 1.425037 1518 9 131347169 131347169 C T intronic SPTAN1 NA NA NA intronic ENSG00000197694 NA NA NA NA NA 9q34.11 NA NA NA NA rs4837284 0.65 0.65 0.615 0.619209 0.8827 0.5139 0.7853 0.3366 0.7209 0.88 0.5 0.81 0.35 0.7928 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 -0.422002 NA NA 0.900581 0.406718 NA 0.594 NA 1.423919 1518 15 66793480 66793480 C T intronic RPL4 NA NA NA intronic ENSG00000174444 NA NA NA NA NA 15q22.31 NA NA NA NA rs11071895 0.9 0.9 0.897 0.927117 0.8668 0.9335 0.879 0.9909 0.9305 0.86 0.92 0.86 0.99 0.8681 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 0.525402 NA NA 0.84171 0.970025 NA 0.841 NA 1.42339 1518 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 1518 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 1518 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 1518 19 44605123 44605123 G A intronic ZNF224 NA NA NA intronic ENSG00000267680 NA NA NA NA NA 19q13.31 NA NA NA NA rs4803676 0.8 0.8 0.821 0.803914 0.8807 0.6081 0.755 0.9138 0.8129 0.87 0.61 0.81 0.92 0.8274 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 -0.54765 NA NA 0.871512 0.891512 NA 0.891 NA 1.420388 1518 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 1518 19 56175149 56175149 G A intronic U2AF2 NA NA NA ncRNA_intronic ENSG00000267523 NA NA NA NA NA 19q13.42 NA NA NA NA rs310444 0.95 0.95 0.942 0.94349 0.9712 0.995 0.9899 0.829 0.9836 0.98 0.99 0.99 0.81 0.9683 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 -1.065906 NA NA 0.973721 0.864503 NA 0.79 NA 1.4201123 1518 3 62431415 62431415 T C intronic CADPS NA NA NA intronic ENSG00000163618 NA NA NA NA NA 3p14.2 NA NA NA NA rs6791296 0.82 0.82 0.788 0.795128 0.8807 0.8472 0.7997 0.671 0.818 0.88 0.83 0.82 0.73 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 0.24076 NA NA 0.869535 0.729687 NA 0.906 NA 1.418565 1518 19 56410340 56410340 T G intronic NLRP13 NA NA NA intronic ENSG00000173572 NA NA NA NA NA 19q13.43 NA NA NA NA rs302828 0.88 0.88 0.883 0.888179 0.8539 0.9692 0.9121 0.8101 0.9284 0.84 0.97 0.91 0.83 0.8675 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 -0.559442 NA NA 0.861977 0.837948 NA 0.862 NA 1.416623 1518 17 4351640 4351640 G A intronic SPNS3 NA NA NA intronic ENSG00000182557 NA NA NA NA NA 17p13.2 NA NA NA NA rs884250 0.69 0.69 0.682 0.69389 0.8767 0.2282 0.8458 0.7935 0.7434 0.87 0.22 0.88 0.81 0.8208 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 -0.362779 NA NA 0.887326 0.818656 NA 0.819 NA 1.415174 1519 15 43322113 43322113 C A intronic UBR1 NA NA NA intronic ENSG00000159459 NA NA NA NA NA 15q15.2 NA NA NA NA rs3736054 0.81 0.81 0.792 0.838458 0.8738 0.8046 0.8646 0.7791 0.8988 0.86 0.78 0.83 0.74 0.8478 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 0.028922 NA NA 0.863457 0.807762 NA 0.696 NA 1.414943 1519 19 15300069 15300069 T C intronic NOTCH3 NA NA NA intronic ENSG00000074181 NA NA NA NA NA 19p13.12 NA NA NA NA rs10423702 0.86 0.86 0.855 0.854233 0.8519 0.869 0.7421 0.9206 0.8313 0.84 0.87 0.77 0.92 0.8572 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 -1.931446 NA NA 0.87686 0.912846 NA 0.703 NA 1.41404 1519 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 1519 10 135197419 135197419 G A intronic PAOX NA NA NA intronic ENSG00000148832 NA NA NA NA NA 10q26.3 NA NA NA NA rs4240520 0.83 0.83 0.809 0.817292 0.8708 0.9821 0.8689 0.5734 0.8855 0.88 0.97 0.84 0.57 0.8589 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 -0.618234 NA NA 0.857907 0.603949 NA 0.79 NA 1.412393 1519 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 1519 17 57750982 57750982 T C intronic CLTC NA NA NA intronic ENSG00000141367 NA NA NA NA NA 17q23.1 NA NA NA NA rs8065248 0.91 0.91 0.917 0.919728 0.8559 0.9504 0.8213 0.9864 0.9335 0.87 0.95 0.86 0.98 0.8802 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 -0.266159 NA NA 0.85227 0.95822 NA 0.87 NA 1.41163 1519 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 1519 16 76523792 76523792 A G intronic CNTNAP4 NA NA NA intronic ENSG00000152910 NA NA NA NA NA 16q23.1 NA NA NA NA rs7201030 0.68 0.68 0.638 0.603834 0.9135 0.7986 0.7536 0.0802 0.6861 0.93 0.79 0.77 0.09 0.7953 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 0.228936 NA NA 0.883229 0.209736 NA 0.601 NA 1.407971 1519 5 71743024 71743024 G C intronic ZNF366 NA NA NA intronic ENSG00000178175 NA NA NA NA NA 5q13.2 NA NA NA NA rs10043295 0.84 0.84 0.843 0.839058 0.8728 0.9593 0.6844 0.7065 0.9693 0.87 0.97 0.72 0.73 0.8526 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 0.371033 NA NA 0.867093 0.716296 NA 0.848 NA 1.407507 1519 18 77107934 77107934 C T intronic ATP9B NA NA NA intronic ENSG00000166377 NA NA NA NA NA 18q23 NA NA NA NA rs9965202 0.9 0.9 0.911 0.905551 0.8429 0.999 0.9135 0.857 0.9335 0.84 1 0.91 0.88 0.8881 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.906024 NA NA 0.863256 0.843168 NA 0.862 NA 1.405744 1519 2 220239534 220239534 G A intronic DNPEP NA NA NA intronic ENSG00000123992 NA NA NA NA NA 2q35 NA NA NA NA rs3731904 0.78 0.78 0.765 0.763379 0.8887 0.7421 0.8228 0.6044 0.8292 0.89 0.75 0.85 0.62 0.836 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 0.961887 NA NA 0.869602 0.651424 NA 0.754 NA 1.405698 1520 6 45922849 45922849 C T intronic CLIC5 NA NA NA intronic ENSG00000112782 NA NA NA NA NA 6p21.1 NA NA NA NA rs3734206 0.73 0.73 0.73 0.714856 0.8857 0.4762 0.7118 0.7723 0.7096 0.89 0.49 0.74 0.75 0.8149 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 1.271556 1.271556 NA 0.895233 0.791875 NA 0.739 NA 1.404167 1520 2 220239561 220239561 C G intronic DNPEP NA NA NA intronic ENSG00000123992 NA NA NA NA NA 2q35 NA NA NA NA rs3731905 0.78 0.78 0.764 0.760583 0.8887 0.7282 0.8228 0.6044 0.8292 0.89 0.73 0.85 0.62 0.8363 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 -0.18355 NA NA 0.871034 0.651652 NA 0.754 NA 1.403966 1520 19 44585159 44585159 T A intronic ZNF284 NA NA NA intronic ENSG00000186026,ENSG00000267022 NA NA NA NA NA 19q13.31 NA NA NA NA rs4803674 0.76 0.76 0.758 0.766573 0.8966 0.6012 0.7161 0.7519 0.8589 0.89 0.58 0.77 0.75 0.8238 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 -0.379666 NA NA 0.876395 0.785293 NA 0.812 NA 1.403205 1520 1 110300504 110300504 A G intronic EPS8L3 NA NA NA ncRNA_intronic ENSG00000241720 NA NA NA NA NA 1p13.3 NA NA NA NA rs10776700 0.99 0.99 0.985 0.992412 0.9712 1 0.9885 1 0.999 0.97 1 0.98 1 0.9833 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603894 NA NA 0.975814 0.993872 NA 0.92 NA 1.4030193 1520 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 1520 5 159665599 159665599 G A intronic FABP6 NA NA NA intronic ENSG00000170231 NA NA NA NA NA 5q33.3 NA NA NA NA rs2277954 0.7 0.7 0.664 0.686502 0.8926 0.6399 0.6787 0.4516 0.8456 0.88 0.65 0.73 0.45 0.8165 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 1.349942 1.349942 NA 0.889302 0.53813 NA 0.717 NA 1.401598 1520 1 201383616 201383616 A G intronic TNNI1 NA NA NA intronic ENSG00000159173 NA NA NA NA NA 1q32.1 NA NA NA NA rs2026593 0.8 0.8 0.807 0.777756 0.8608 0.7222 0.853 0.7277 0.7638 0.87 0.75 0.84 0.74 0.8728 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 -0.479116 NA NA 0.864852 0.784028 NA 0.688 NA 1.401548 1520 4 152070633 152070633 T A intronic SH3D19 NA NA NA intronic ENSG00000109686 NA NA NA NA NA 4q31.3 NA NA NA NA rs3792611 0.69 0.69 0.647 0.618211 0.8917 0.7242 0.7968 0.2057 0.6585 0.88 0.73 0.84 0.22 0.7988 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 0.314104 NA NA 0.908372 0.321607 NA 0.594 NA 1.401128 1520 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 1520 13 25370255 25370255 A G intronic RNF17 NA NA NA intronic ENSG00000132972 NA NA NA NA NA 13q12.12 NA NA NA NA rs1446294 0.86 0.86 0.863 0.864816 0.8678 0.8383 0.8343 0.848 0.9335 0.86 0.85 0.86 0.84 0.8674 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 -1.363366 NA NA 0.864302 0.856786 NA 0.906 NA 1.400498 1520 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 1520 2 88474370 88474370 A G intronic THNSL2 NA NA NA intronic ENSG00000144115 NA NA NA NA NA 2p11.2 NA NA NA NA rs2139100 0.87 0.87 0.867 0.870208 0.8827 0.8591 0.7839 0.9153 0.8691 0.88 0.86 0.79 0.91 0.8586 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 0.496418 NA NA 0.858488 0.916024 NA 0.906 NA 1.400212 1520 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 1520 14 50626836 50626836 C T intronic SOS2 NA NA NA intronic ENSG00000100485 NA NA NA NA NA 14q21.3 NA NA NA NA rs4900992 0.88 0.88 0.864 0.853035 0.8638 0.9018 0.928 0.857 0.7331 0.86 0.9 0.92 0.84 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 -1.437995 NA NA 0.866379 0.854318 NA 0.826 NA 1.398221 1520 4 68436883 68436883 T C intronic STAP1 NA NA NA intronic ENSG00000035720 NA NA NA NA NA 4q13.2 NA NA NA NA rs13111555 0.72 0.72 0.699 0.691294 0.8926 0.4286 0.7406 0.733 0.6636 0.9 0.43 0.77 0.75 0.8056 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 0.43439 NA NA 0.904773 0.777576 NA 0.761 NA 1.397027 1520 3 38350630 38350630 C A intronic SLC22A14 NA NA NA intronic ENSG00000144671 NA NA NA NA NA 3p22.2 NA NA NA NA rs704929 0.82 0.82 0.829 0.825679 0.8708 0.7639 0.8055 0.8389 0.8395 0.86 0.77 0.82 0.83 0.8491 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 -1.245078 NA NA 0.88314 0.832728 NA 0.826 NA 1.39696 1521 13 103301537 103301537 G T intronic TPP2 NA NA NA intronic ENSG00000134900 NA NA NA NA NA 13q33.1 NA NA NA NA rs664660 0.87 0.87 0.906 0.855831 0.8847 0.7669 0.7464 0.9788 0.8292 0.9 0.8 0.77 0.97 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 0.374124 NA NA 0.869535 0.960281 NA 0.913 NA 1.393765 1521 4 155508627 155508627 G A intronic FGA NA NA NA intronic ENSG00000171560 NA NA NA NA NA 4q31.3 NA NA NA NA rs2070018 0.9 0.9 0.903 0.889976 0.8708 0.9296 0.8545 0.9206 0.8528 0.87 0.95 0.85 0.92 0.8767 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 0.085783 NA NA 0.859651 0.888788 NA 0.899 NA 1.392849 1521 19 33406442 33406442 A G intronic CEP89 NA NA NA intronic ENSG00000121289 NA NA NA NA NA 19q13.11 NA NA NA NA rs7246178 0.92 0.92 0.906 0.930911 0.8539 0.9018 0.9308 0.9909 0.9591 0.87 0.92 0.94 0.99 0.8952 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 -0.68833 NA NA 0.859186 0.970268 NA 0.928 NA 1.391714 1521 2 128411950 128411950 A G intronic LIMS2 NA NA NA intronic ENSG00000072163 NA NA NA NA NA 2q14.3 NA NA NA NA rs6707282 0.88 0.88 0.884 0.875399 0.8698 0.9891 0.8919 0.7821 0.8783 0.86 0.98 0.89 0.8 0.8745 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 -0.805588 NA NA 0.864419 0.805946 NA 0.899 NA 1.391281 1521 2 179643886 179643886 A G intronic TTN NA NA NA ncRNA_intronic ENSG00000266413 NA NA NA NA NA 2q31.2 NA NA NA NA rs2291302 0.92 0.92 0.909 0.919928 0.992 0.8829 0.9496 0.8487 0.9591 0.99 0.87 0.94 0.87 0.9608 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 -0.910719 NA NA 0.991279 0.872447 NA 0.928 NA 1.3892543 1521 18 77137202 77137202 A G intronic ATP9B NA NA NA intronic ENSG00000166377 NA NA NA NA NA 18q23 NA NA NA NA rs1110784 0.92 0.92 0.932 0.932308 0.8469 0.999 0.9207 0.9425 0.9458 0.85 1 0.92 0.96 0.898 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.815944 NA NA 0.866163 0.918974 NA 0.899 NA 1.388937 1521 16 20386115 20386115 T C intronic PDILT NA NA NA intronic ENSG00000169340 NA NA NA NA NA 16p12.3 NA NA NA NA rs4522429 0.7 0.7 0.691 0.674321 0.8996 0.3542 0.719 0.6649 0.7536 0.9 0.4 0.75 0.7 0.8019 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 0.085703 NA NA 0.910233 0.686337 NA 0.79 NA 1.388267 1521 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 1521 10 27009334 27009334 A G intronic PDSS1 NA NA NA intronic ENSG00000148459 NA NA NA NA NA 10p12.1 NA NA NA NA rs1780196 0.89 0.89 0.89 0.905351 0.8748 0.9325 0.9236 0.9259 0.8681 0.87 0.92 0.9 0.9 0.8795 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 0.754572 NA NA 0.858721 0.923286 NA 0.928 NA 1.386979 1521 1 186313249 186313249 A G ncRNA_intronic MIR548F1 NA NA NA intronic ENSG00000047410 NA NA NA NA NA 1q31.1 NA NA NA NA rs2950829 0.97 0.97 0.974 0.971246 0.9881 0.9692 0.9135 0.9735 0.9939 0.99 0.98 0.93 0.97 0.9759 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 0.063363 NA NA 0.983163 0.967515 NA 0.949 NA 1.3861703 1521 11 69962642 69962642 A G intronic ANO1 NA NA NA intronic ENSG00000131620 NA NA NA NA NA 11q13.3 NA NA NA NA rs2515245 0.87 0.87 0.861 0.830871 0.8857 0.8522 0.9222 0.7867 0.7474 0.9 0.86 0.93 0.79 0.8523 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 -0.593096 NA NA 0.876667 0.826098 NA 0.696 NA 1.385333 1522 9 134952790 134952790 T C intronic MED27 NA NA NA ncRNA_intronic ENSG00000230940 NA NA NA NA NA 9q34.13 NA NA NA NA rs4440729 0.98 0.98 0.982 0.983027 0.9851 1 0.9726 0.9667 0.9928 0.99 1 0.98 0.97 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 -0.270657 NA NA 0.978488 0.97231 NA 0.986 NA 1.3849453 1522 9 139410424 139410424 A G intronic NOTCH1 NA NA NA intronic ENSG00000148400 NA NA NA NA NA 9q34.3 NA NA NA NA rs3125006 0.9 0.9 0.898 0.883986 0.8847 0.9147 0.928 0.91 0.7853 0.87 0.94 0.9 0.91 0.8704 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 -0.651045 NA NA 0.860516 0.899701 NA 0.928 NA 1.384384 1522 16 68712217 68712217 T C intronic CDH3 NA NA NA intronic ENSG00000062038 NA NA NA NA NA 16q22.1 NA NA NA NA rs2296410 0.83 0.83 0.811 0.826478 0.8857 0.7728 0.7968 0.8638 0.7914 0.87 0.75 0.83 0.87 0.8413 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 0.708952 NA NA 0.88907 0.883303 NA 0.87 NA 1.38393 1522 5 1243009 1243009 A G intronic SLC6A18 NA NA NA intronic ENSG00000164363 NA NA NA NA NA 5p15.33 NA NA NA NA rs7721679 0.93 0.93 0.93 0.941094 0.8588 0.9821 0.9193 0.9924 0.9294 0.85 0.98 0.91 0.99 0.8938 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 -0.420618 NA NA 0.864038 0.971403 NA 0.906 NA 1.383362 1522 3 53766026 53766026 T C intronic CACNA1D NA NA NA intronic ENSG00000157388 NA NA NA NA NA 3p21.1 NA NA NA NA rs2612033 0.92 0.92 0.921 0.910942 0.8688 1 0.9265 0.8858 0.8855 0.88 1 0.91 0.89 0.8887 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.48227 NA NA 0.859767 0.881298 NA 0.949 NA 1.382733 1522 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 1522 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 1522 1 241519098 241519098 T A UTR5 RGS7 NM_002924:c.-22A>T NA NA UTR5 ENSG00000182901 ENST00000366565:c.-22A>T,ENST00000366564:c.-22A>T,ENST00000366563:c.-22A>T NA NA NA NA 1q43 NA NA NA NA rs4659599 0.96 0.96 0.957 0.948283 0.9881 0.9921 0.9899 0.8321 0.9898 0.99 1 0.99 0.86 0.9778 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.774387 1.774387 NA 0.986395 0.882206 NA 0.942 NA 1.3810384 1522 10 12940377 12940377 T C UTR3 CCDC3 NM_031455:c.*39A>G NA NA UTR3 ENSG00000151468 ENST00000378839:c.*39A>G,ENST00000378825:c.*39A>G NA NA NA NA 10p13 NA NA NA NA rs10752280 0.96 0.96 0.954 0.960863 0.9801 1 0.987 0.8896 0.9785 0.98 1 0.99 0.88 0.9812 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.929517 NA NA 0.991563 0.915908 NA 0.993 NA 1.3804704 1522 19 4177051 4177051 A G intronic SIRT6 NA NA NA intronic ENSG00000077463 NA NA NA NA NA 19p13.3 NA NA NA NA rs350844 0.82 0.82 0.813 0.855831 0.8708 0.6935 0.7983 0.9622 0.9049 0.86 0.68 0.79 0.96 0.8683 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 -0.903894 NA NA 0.882442 0.952792 NA 0.725 NA 1.378458 1522 14 57866623 57866623 A G intronic NAA30 NA NA NA intronic ENSG00000139977 NA NA NA NA NA 14q22.3 NA NA NA NA rs2152360 0.7 0.7 0.654 0.653754 0.9016 0.7946 0.8746 0.09 0.8589 0.9 0.84 0.86 0.1 0.8271 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 0.677161 NA NA 0.89304 0.22752 NA 0.638 NA 1.37826 1522 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 1522 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 1522 17 73485033 73485033 T C intronic KIAA0195 NA NA NA intronic ENSG00000177728 NA NA NA NA NA 17q25.1 NA NA NA NA rs11867527 0.77 0.77 0.795 0.781749 0.8936 0.5794 0.6455 0.8593 0.8671 0.9 0.54 0.72 0.89 0.8252 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 -0.555275 NA NA 0.905327 0.88238 NA 0.884 NA 1.375873 1522 19 56413583 56413583 A G intronic NLRP13 NA NA NA intronic ENSG00000173572 NA NA NA NA NA 19q13.43 NA NA NA NA rs302835 0.9 0.9 0.892 0.911342 0.8529 0.9673 0.8963 0.8835 0.9622 0.86 0.97 0.9 0.88 0.8931 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 -0.166299 NA NA 0.878372 0.885384 NA 0.855 NA 1.375628 1523 6 150387302 150387302 A T intronic ULBP3 NA NA NA intronic ENSG00000131019 NA NA NA NA NA 6q25.1 NA NA NA NA rs669009 0.83 0.83 0.843 0.839457 0.8797 0.7044 0.8271 0.8903 0.8773 0.88 0.7 0.82 0.89 0.8564 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 -0.171317 NA NA 0.889767 0.889015 NA 0.877 NA 1.374133 1523 6 150387312 150387312 A G intronic ULBP3 NA NA NA intronic ENSG00000131019 NA NA NA NA NA 6q25.1 NA NA NA NA rs6935471 0.83 0.83 0.835 0.839457 0.8797 0.7044 0.8271 0.8903 0.8773 0.88 0.7 0.82 0.89 0.856 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 -1.020925 NA NA 0.890233 0.895143 NA 0.877 NA 1.374067 1523 1 23735241 23735241 G T intronic TCEA3 NA NA NA intronic ENSG00000204219 NA NA NA NA NA 1p36.12 NA NA NA NA rs1198423 0.86 0.86 0.859 0.842452 0.8767 0.8829 0.8674 0.7579 0.862 0.88 0.91 0.86 0.77 0.8778 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 0.631903 NA NA 0.871708 0.791003 NA 0.848 NA 1.373792 1523 13 47315984 47315984 T C UTR3 LRCH1 NM_001164211:c.*1T>C,NM_015116:c.*1T>C NA NA UTR3 ENSG00000136141 ENST00000389798:c.*1T>C,ENST00000389797:c.*1T>C NA NA NA NA 13q14.2 NA NA NA NA rs3742274 0.93 0.93 0.92 0.905551 0.997 0.8829 0.9755 0.7965 0.9325 1 0.89 0.96 0.85 0.9658 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.135172 3.135172 NA 0.997093 0.826827 NA 0.949 NA 1.3734404 1523 5 132198287 132198287 C G intronic GDF9 NA NA NA intronic ENSG00000164404 NA NA NA NA NA 5q31.1 NA NA NA NA rs254285 0.82 0.82 0.837 0.818291 0.8827 0.5556 0.7406 0.9939 0.8405 0.88 0.58 0.81 0.99 0.8401 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 -0.126274 NA NA 0.904147 0.973188 NA 0.877 NA 1.373053 1523 4 140810334 140810334 T C intronic MAML3 NA NA NA intronic ENSG00000196782 NA NA NA NA NA 4q31.1 NA NA NA NA rs3733381 0.72 0.72 0.697 0.710064 0.8817 0.6944 0.8617 0.3676 0.9049 0.89 0.69 0.87 0.38 0.8523 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 0.51286 NA NA 0.894274 0.429224 NA 0.667 NA 1.371726 1523 1 236924506 236924506 A G intronic ACTN2 NA NA NA intronic ENSG00000077522 NA NA NA NA NA 1q43 NA NA NA NA rs2282366 0.82 0.82 0.812 0.798123 0.8877 0.7421 0.8674 0.7852 0.7321 0.89 0.73 0.84 0.79 0.85 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 -0.339587 NA NA 0.89093 0.802315 NA 0.804 NA 1.37137 1523 16 69752464 69752464 C G intronic NQO1 NA NA NA intronic ENSG00000181019 NA NA NA NA NA 16q22.1 NA NA NA NA rs689452 0.84 0.84 0.829 0.834465 0.8936 0.6508 0.9438 0.8729 0.8333 0.9 0.65 0.93 0.88 0.8597 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 1.033094 NA NA 0.87686 0.859418 NA 0.877 NA 1.36984 1523 1 31899704 31899704 C T intronic SERINC2 NA NA NA intronic ENSG00000168528 NA NA NA NA NA 1p35.2 NA NA NA NA rs10454446 0.76 0.76 0.728 0.739018 0.8807 0.8353 0.8847 0.3192 0.9581 0.88 0.86 0.87 0.36 0.8601 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 -0.501658 NA NA 0.889884 0.43872 NA 0.754 NA 1.369316 1523 8 19689633 19689633 T C intronic INTS10 NA NA NA intronic ENSG00000104613 NA NA NA NA NA 8p21.3 NA NA NA NA rs4434638 0.88 0.88 0.89 0.886781 0.8748 0.8581 0.8573 0.9327 0.8875 0.87 0.85 0.86 0.92 0.8738 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 -0.754045 NA NA 0.882764 0.926001 NA 0.942 NA 1.368636 1523 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 1523 10 71969062 71969062 G A intronic PPA1 NA NA NA intronic ENSG00000180817 NA NA NA NA NA 10q22.1 NA NA NA NA rs9415006 0.93 0.93 0.929 0.928315 0.8817 0.998 0.9337 0.9425 0.8814 0.9 1 0.92 0.92 0.8862 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.463605 1.463605 NA 0.864705 0.940282 NA 0.942 NA 1.367395 1523 10 101841153 101841153 A G intronic CPN1 NA NA NA intronic ENSG00000120054 NA NA NA NA NA 10q24.2 NA NA NA NA rs10883439 0.91 0.91 0.918 0.892971 0.8857 0.9325 0.8732 0.9735 0.7648 0.89 0.93 0.88 0.96 0.8718 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 -0.923655 NA NA 0.875465 0.955288 NA 0.928 NA 1.367035 1523 10 50701156 50701156 G A intronic ERCC6 NA NA NA intronic ENSG00000225830 NA NA NA NA NA 10q11.23 NA NA NA NA rs4253132 0.87 0.87 0.861 0.876997 0.8638 0.999 0.9251 0.7141 0.9509 0.86 1 0.9 0.68 0.8887 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.225104 NA NA 0.88186 0.735361 NA 0.833 NA 1.36564 1523 3 41996275 41996275 A G UTR5 ULK4 NM_017886:c.-24T>C NA NA UTR5 ENSG00000168038 ENST00000301831:c.-24T>C,ENST00000420927:c.-24T>C,ENST00000453224:c.-24T>C,ENST00000431379:c.-24T>C,ENST00000414606:c.-24T>C NA NA NA NA 3p22.1 NA NA NA NA rs7651623 0.93 0.93 0.923 0.915535 0.996 1 0.9755 0.6959 1 1 1 0.98 0.71 0.9763 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.410401 NA NA 0.995486 0.763285 NA 0.899 NA 1.3655474 1523 2 197777589 197777589 C T intronic PGAP1 NA NA NA intronic ENSG00000197121 NA NA NA NA NA 2q33.1 NA NA NA NA rs12693800 0.93 0.93 0.914 0.910543 0.8767 0.9752 0.9352 0.9153 0.8548 0.89 0.98 0.93 0.92 0.8926 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 0.533285 NA NA 0.865581 0.917612 NA 0.891 NA 1.365119 1524 3 196554020 196554020 C T intronic PAK2 NA NA NA intronic ENSG00000180370 NA NA NA NA NA 3q29 NA NA NA NA rs2084386 0.91 0.91 0.911 0.919928 0.8658 1 0.9222 0.9115 0.9029 0.86 1 0.92 0.89 0.8941 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.260441 NA NA 0.876628 0.905086 NA 0.913 NA 1.363472 1524 8 38809663 38809663 A C intronic PLEKHA2 NA NA NA intronic ENSG00000169499 NA NA NA NA NA 8p11.22 NA NA NA NA rs6984871 0.92 0.92 0.911 0.91254 0.8738 0.9246 0.9481 0.9743 0.8313 0.87 0.91 0.93 0.98 0.8888 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 1.026356 NA NA 0.874558 0.947026 NA 0.891 NA 1.362842 1524 13 110850770 110850770 T C intronic COL4A1 NA NA NA intronic ENSG00000187498 NA NA NA NA NA 13q34 NA NA NA NA rs683309 0.91 0.91 0.906 0.901358 0.8787 0.9931 0.8991 0.8752 0.8671 0.88 0.99 0.91 0.86 0.8874 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 0.262761 NA NA 0.871216 0.860164 NA 0.884 NA 1.362684 1524 4 119736598 119736598 C T intronic SEC24D NA NA NA intronic ENSG00000150961 NA NA NA NA NA 4q26 NA NA NA NA rs6843524 0.85 0.85 0.842 0.854832 0.8817 0.6994 0.9035 0.9244 0.8589 0.87 0.71 0.9 0.94 0.8717 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 -0.048719 NA NA 0.88407 0.925783 NA 0.884 NA 1.36253 1524 22 19959955 19959955 A G intronic ARVCF NA NA NA intronic ENSG00000099889 NA NA NA NA NA 22q11.21 NA NA NA NA rs2073744 0.78 0.78 0.805 0.766573 0.8946 0.5615 0.6974 0.8147 0.8303 0.9 0.58 0.77 0.82 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 0.48668 NA NA 0.908837 0.826067 NA 0.87 NA 1.362263 1524 11 45936035 45936035 G A intronic PEX16 NA NA NA intronic ENSG00000121680 NA NA NA NA NA 11p11.2 NA NA NA NA rs3802758 0.67 0.67 0.694 0.684904 0.9145 0.4653 0.6628 0.5537 0.8681 0.92 0.42 0.69 0.58 0.8101 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 -1.66368 NA NA 0.913236 0.598502 NA 0.674 NA 1.362164 1524 12 14834427 14834427 G T intronic GUCY2C NA NA NA ncRNA_intronic ENSG00000214772 NA NA NA NA NA 12p12.3 NA NA NA NA rs58911033 0.93 0.93 NA 0.926118 0.996 0.9841 0.9769 0.7474 1 0.98 0.97 0.97 0.76 0.9769 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.435747 1.435747 NA 0.998488 0.730822 NA NA NA 1.3619453 1524 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 1524 11 125648503 125648503 G A intronic PATE2 NA NA NA intronic ENSG00000196844 NA NA NA NA NA 11q24.2 NA NA NA NA rs494361 0.9 0.9 0.896 0.889976 0.8668 0.997 0.9179 0.8064 0.8967 0.87 1 0.93 0.81 0.8905 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.41053 NA NA 0.881484 0.821445 NA 0.891 NA 1.361216 1524 10 127426835 127426835 G T intronic C10orf137 NA NA NA intronic ENSG00000107938 NA NA NA NA NA 10q26.13 NA NA NA NA rs3943225 0.87 0.87 0.867 0.875998 0.8817 0.9147 0.8545 0.829 0.909 0.88 0.91 0.86 0.82 0.8742 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 -0.139763 NA NA 0.88314 0.824852 NA 0.797 NA 1.36096 1524 11 75902571 75902571 A G intronic WNT11 NA NA NA ncRNA_intronic ENSG00000254933 NA NA NA NA NA 11q13.5 NA NA NA NA rs2508779 0.99 0.99 0.993 0.992412 0.9901 0.999 0.9928 1 0.9775 0.99 1 0.99 1 0.9906 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.45369 NA NA 0.991962 0.998409 NA 0.986 NA 1.3606713 1524 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 1524 15 43352041 43352041 G A intronic UBR1 NA NA NA intronic ENSG00000159459 NA NA NA NA NA 15q15.2 NA NA NA NA rs4924704 0.82 0.82 0.806 0.844449 0.8956 0.8046 0.8703 0.7799 0.9018 0.89 0.78 0.84 0.74 0.8626 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 0.312251 NA NA 0.881949 0.814344 NA 0.703 NA 1.359851 1524 9 136412346 136412346 C T intronic ADAMTSL2 NA NA NA intronic ENSG00000197859 NA NA NA NA NA 9q34.2 NA NA NA NA rs2073878 0.74 0.74 0.752 0.720447 0.9056 0.5079 0.6844 0.761 0.7198 0.91 0.52 0.74 0.75 0.8181 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 0.21393 NA NA 0.916512 0.793917 NA 0.841 NA 1.359788 1524 12 56428344 56428344 G C intronic IKZF4 NA NA NA ncRNA_intronic ENSG00000257449 NA NA NA NA NA 12q13.2 NA NA NA NA rs2452822 0.94 0.94 0.92 0.928514 0.999 1 0.9712 0.7451 1 1 1 0.97 0.74 0.9775 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.383841 NA NA 0.997339 0.773274 NA 0.899 NA 1.3594943 1524 12 52156255 52156255 A C intronic SCN8A NA NA NA intronic ENSG00000196876 NA NA NA NA NA 12q13.13 NA NA NA NA rs303767 0.9 0.9 0.887 0.846046 0.8867 0.9742 0.9236 0.8169 0.6564 0.89 0.97 0.91 0.83 0.87 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 0.457 NA NA 0.884127 0.821293 NA 0.797 NA 1.359173 1524 8 10285825 10285825 T G UTR3 MSRA NM_012331:c.*3T>G,NM_001135670:c.*3T>G,NM_001135671:c.*3T>G,NM_001199729:c.*3T>G NA NA UTR3 ENSG00000175806 ENST00000317173:c.*3T>G,ENST00000441698:c.*3T>G,ENST00000528246:c.*3T>G,ENST00000382490:c.*3T>G NA NA NA NA 8p23.1 NA NA NA NA rs10903326 0.94 0.94 0.919 0.920327 0.999 1 0.9841 0.7095 0.9969 1 1 0.99 0.73 0.9765 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.862499 NA NA 0.998837 0.743985 NA 0.92 NA 1.3589964 1524 14 53326454 53326454 C A intronic FERMT2 NA NA NA intronic ENSG00000073712 NA NA NA NA NA 14q22.1 NA NA NA NA rs3818453 0.73 0.73 0.715 0.704673 0.9016 0.7252 0.8199 0.3722 0.8487 0.91 0.73 0.84 0.39 0.8358 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 -0.477055 NA NA 0.904978 0.448229 NA 0.703 NA 1.357622 1524 17 54925262 54925262 G T intronic DGKE NA NA NA intronic ENSG00000153933 NA NA NA NA NA 17q22 NA NA NA NA rs6503775 0.89 0.89 0.865 0.842452 0.8907 0.9335 0.9222 0.7852 0.7198 0.88 0.94 0.9 0.82 0.8643 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 0.723713 NA NA 0.887558 0.813436 NA 0.928 NA 1.357442 1524 15 43256121 43256121 T C intronic UBR1 NA NA NA intronic ENSG00000159459 NA NA NA NA NA 15q15.2 NA NA NA NA rs2054389 0.82 0.82 0.8 0.844848 0.8956 0.8075 0.8703 0.7799 0.9008 0.89 0.78 0.84 0.75 0.8642 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 -2.079126 NA NA 0.882763 0.814344 NA 0.703 NA 1.357437 1524 4 74847292 74847292 G C intronic PF4 NA NA NA intronic ENSG00000163737 NA NA NA NA NA 4q13.3 NA NA NA NA rs352007 0.82 0.82 0.766 0.806909 0.8847 0.9643 0.8862 0.5129 0.9059 0.88 0.96 0.89 0.52 0.8702 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 -0.498504 NA NA 0.888372 0.591693 NA 0.71 NA 1.356728 1524 1 40879808 40879808 G T intronic SMAP2 NA NA NA intronic ENSG00000084070 NA NA NA NA NA 1p34.2 NA NA NA NA rs209605 0.95 0.95 0.922 0.861222 0.8638 0.7708 0.8199 0.9735 0.8292 0.91 0.97 0.94 0.99 0.8577 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 2.555122 2.555122 NA 0.92186 0.982297 NA 0.928 NA 1.35664 1524 12 56575742 56575742 T G intronic SMARCC2 NA NA NA ncRNA_intronic ENSG00000258199 NA NA NA NA NA 12q13.2 NA NA NA NA rs773644 0.95 0.95 0.939 0.939497 0.999 1 0.9755 0.7844 1 1 1 0.98 0.8 0.9802 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.30423 NA NA 0.997907 0.80345 NA 0.942 NA 1.3562263 1524 13 42882762 42882762 A G intronic AKAP11 NA NA NA intronic ENSG00000023516 NA NA NA NA NA 13q14.11 NA NA NA NA rs238314 0.87 0.87 0.85 0.841653 0.8757 0.8313 0.9193 0.8207 0.7904 0.88 0.84 0.91 0.84 0.8779 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 1.814675 1.814675 NA 0.890581 0.830685 NA 0.862 NA 1.355819 1524 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 1524 3 39167905 39167905 G A intronic TTC21A NA NA NA intronic ENSG00000168026 NA NA NA NA NA 3p22.2 NA NA NA NA rs784506 0.9 0.9 0.893 0.91254 0.8857 0.8948 0.9409 0.947 0.8916 0.88 0.87 0.92 0.93 0.885 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 0.625297 NA NA 0.874223 0.941381 NA 0.928 NA 1.355077 1525 9 111754288 111754288 T C intronic CTNNAL1 NA NA NA UTR3 ENSG00000119326 ENST00000374593:c.*27A>G NA NA NA NA 9q31.3 NA NA NA NA rs838836 0.95 0.95 0.948 0.945288 0.9314 1 0.9726 0.8782 0.9744 0.94 1 0.98 0.89 0.9467 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.169093 3.169093 NA 0.934356 0.891628 NA 0.971 NA 1.3542107 1525 19 44511223 44511223 T G UTR5 ZNF230 NM_006300:c.-8T>G NA NA UTR5 ENSG00000159882 ENST00000429154:c.-8T>G,ENST00000585568:c.-8T>G,ENST00000585632:c.-8T>G,ENST00000585491:c.-8T>G NA NA NA NA 19q13.31 NA NA NA NA rs424147 0.98 0.98 0.984 0.971845 0.995 1 0.9899 0.9054 0.9959 1 1 0.99 0.92 0.9883 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.713643 NA NA 0.996047 0.904675 NA 0.986 NA 1.3539864 1525 10 119042761 119042761 C T UTR3 PDZD8 NM_173791:c.*18G>A NA NA UTR3 ENSG00000165650 ENST00000334464:c.*18G>A NA NA NA NA 10q25.3 NA NA NA NA rs363293 0.96 0.96 0.953 0.946885 0.997 1 0.9798 0.8116 1 1 1 0.98 0.84 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 -1.724548 NA NA 0.997791 0.846346 NA 0.978 NA 1.3539424 1525 4 5830414 5830414 T C intronic CRMP1 NA NA NA UTR3 ENSG00000072840 ENST00000382674:c.*3542T>C NA NA NA NA 4p16.2 NA NA NA NA rs6818391 0.97 0.97 0.975 0.966853 0.9374 1 0.9683 0.9939 0.9254 0.94 1 0.95 0.99 0.9453 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.712908 NA NA 0.930116 0.986382 NA 0.978 NA 1.3538507 1525 8 18457957 18457957 A G intronic PSD3 NA NA NA intronic ENSG00000156011 NA NA NA NA NA 8p22 NA NA NA NA rs2932001 0.86 0.86 0.826 0.85643 0.8946 0.9355 0.879 0.6634 0.9806 0.89 0.95 0.9 0.68 0.8923 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 -1.339388 NA NA 0.860233 0.648434 NA 0.79 NA 1.352867 1525 4 177142776 177142776 C A intronic ASB5 NA NA NA intronic ENSG00000164122 NA NA NA NA NA 4q34.2 NA NA NA NA rs10032098 0.84 0.84 0.802 0.839457 0.9115 0.8274 0.889 0.8775 0.6912 0.87 0.81 0.86 0.83 0.8729 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 1.065256 NA NA 0.86314 0.846346 NA 0.42 NA 1.35246 1525 1 47842431 47842431 G A UTR3 CMPK1 NM_001136140:c.*14G>A,NM_016308:c.*14G>A NA NA UTR3 ENSG00000162368 ENST00000371873:c.*14G>A,ENST00000371871:c.*114G>A,ENST00000450808:c.*14G>A NA NA NA NA 1p33 NA NA NA NA rs3125648 0.96 0.96 0.953 0.953674 0.998 1 0.9769 0.8381 1 0.99 1 0.97 0.85 0.9847 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.458728 2.458728 NA 0.998255 0.847935 NA 0.957 NA 1.3523784 1525 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 1525 15 90144944 90144944 G A intronic TICRR NA NA NA intronic ENSG00000140534 NA NA NA NA NA 15q26.1 NA NA NA NA rs4244876 0.76 0.76 0.743 0.741813 0.8936 0.7262 0.7421 0.5779 0.8231 0.9 0.72 0.77 0.57 0.8434 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 0.366981 NA NA 0.910914 0.642782 ID=COSN165041;OCCURENCE=1(breast) 0.732 NA 1.352086 1525 2 171260708 171260708 C A intronic MYO3B NA NA NA intronic ENSG00000071909 NA NA NA NA NA 2q31.1 NA NA NA NA rs10930425 0.79 0.79 0.786 0.780351 0.8966 0.7312 0.889 0.6838 0.7648 0.9 0.71 0.89 0.64 0.852 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 -0.338929 NA NA 0.900559 0.722898 NA 0.804 NA 1.350841 1525 19 15276919 15276919 G A intronic NOTCH3 NA NA NA intronic ENSG00000074181 NA NA NA NA NA 19p13.12 NA NA NA NA rs2074619 0.87 0.87 0.888 0.866613 0.8817 0.8006 0.7622 0.9803 0.8395 0.88 0.8 0.79 0.98 0.8717 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 -1.173119 NA NA 0.896744 0.971857 NA 0.79 NA 1.349856 1525 17 62080969 62080969 A C UTR3 C17orf72 NM_001191031:c.*1894A>C,NM_001191030:c.*1848A>C,NM_001191029:c.*1634A>C,NM_001164257:c.*1848A>C NA NA UTR3 ENSG00000224383 ENST00000412177:c.*1848A>C NA NA NA NA 17q23.3 NA NA NA NA rs4141180 0.96 0.96 0.954 0.950479 0.998 1 0.9798 0.8245 1 1 1 0.97 0.85 0.9862 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.396946 NA NA 0.999302 0.86246 NA 0.935 NA 1.3498314 1525 19 15276923 15276923 C T intronic NOTCH3 NA NA NA intronic ENSG00000074181 NA NA NA NA NA 19p13.12 NA NA NA NA rs10416777 0.87 0.87 0.889 0.866613 0.8817 0.8006 0.7622 0.9803 0.8395 0.88 0.8 0.79 0.98 0.8718 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 0.655148 NA NA 0.896977 0.971857 NA 0.79 NA 1.349523 1525 12 12618715 12618715 T C UTR3 LOH12CR1 NM_058169:c.*5T>C NA NA UTR3 ENSG00000165714 ENST00000542728:c.*5T>C,ENST00000314565:c.*5T>C,ENST00000298571:c.*5T>C NA NA NA NA 12p13.2 NA NA NA NA rs967648 0.95 0.95 0.926 0.942891 0.999 1 0.9784 0.7995 0.9949 1 1 0.98 0.77 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 0.471208 NA NA 0.999417 0.843253 NA 0.768 NA 1.3490164 1525 19 15276143 15276143 C T intronic NOTCH3 NA NA NA intronic ENSG00000074181 NA NA NA NA NA 19p13.12 NA NA NA NA rs2074618 0.87 0.87 0.887 0.866613 0.8817 0.8006 0.7622 0.9803 0.8395 0.88 0.8 0.79 0.98 0.8729 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 -0.370752 NA NA 0.896744 0.971857 NA 0.79 NA 1.348656 1525 15 45408699 45408699 C T intronic DUOXA2 NA NA NA intronic ENSG00000140274 NA NA NA NA NA 15q21.1 NA NA NA NA rs2252371 0.71 0.71 0.665 0.682907 0.9095 0.8869 0.7839 0.1165 0.9335 0.91 0.87 0.83 0.13 0.8419 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 0.358625 NA NA 0.901457 0.286357 NA 0.71 NA 1.347143 1525 19 15273381 15273381 A G intronic NOTCH3 NA NA NA intronic ENSG00000074181 NA NA NA NA NA 19p13.12 NA NA NA NA rs4809030 0.87 0.87 0.889 0.86901 0.8817 0.8016 0.7622 0.9818 0.8487 0.88 0.8 0.79 0.98 0.8745 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 -0.21105 NA NA 0.896744 0.975034 NA 0.79 NA 1.347056 1525 11 11354393 11354393 A G intronic GALNT18 NA NA NA intronic ENSG00000110328 NA NA NA NA NA 11p15.3 NA NA NA NA rs901554 0.86 0.86 0.844 0.870807 0.8827 0.8978 0.9222 0.7799 0.9172 0.87 0.89 0.94 0.76 0.8865 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 0.403436 NA NA 0.883791 0.7801 NA 0.913 NA 1.347009 1525 15 90135432 90135432 A G intronic TICRR NA NA NA intronic ENSG00000140534 NA NA NA NA NA 15q26.1 NA NA NA NA rs34494298 0.78 0.78 0.767 0.766973 0.8936 0.7331 0.7536 0.6619 0.8231 0.9 0.72 0.78 0.67 0.8494 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 0.580717 NA NA 0.910278 0.705819 NA 0.739 NA 1.346722 1525 5 79735858 79735858 A G intronic ZFYVE16 NA NA NA intronic ENSG00000039319 NA NA NA NA NA 5q14.1 NA NA NA NA rs168939 0.78 0.78 0.782 0.744209 0.8907 0.9157 0.8689 0.3797 0.8211 0.89 0.93 0.86 0.37 0.8573 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 0.042733 NA NA 0.905421 0.428961 NA 0.746 NA 1.346579 1525 2 26804218 26804218 G A UTR3 CIB4 NM_001029881:c.*13C>T NA NA UTR3 ENSG00000157884 ENST00000288861:c.*13C>T NA NA NA NA 2p23.3 NA NA NA NA rs935171 0.97 0.97 0.963 0.961462 0.998 1 0.9827 0.8646 1 1 1 0.99 0.87 0.9895 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.905423 NA NA 0.999535 0.883795 NA 0.928 NA 1.3462984 1525 18 52555398 52555398 G A intronic RAB27B NA NA NA ncRNA_intronic ENSG00000267112 NA NA NA NA NA 18q21.2 NA NA NA NA rs4343367 0.98 0.98 0.972 0.961661 1 0.9931 0.9899 0.8843 0.9744 1 1 0.99 0.92 0.9877 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.116727 NA NA 0.999535 0.904448 NA 0.949 NA 1.3460983 1525 4 155161666 155161666 C T intronic DCHS2 NA NA NA intronic ENSG00000197410 NA NA NA NA NA 4q31.3 NA NA NA NA rs6535989 0.68 0.68 0.648 0.647764 0.9115 0.7718 0.6455 0.2035 0.8507 0.92 0.75 0.72 0.2 0.822 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 3.006048 3.006048 NA 0.920465 0.304131 NA 0.63 NA 1.346035 1525 15 100269309 100269309 T G UTR3 LYSMD4 NM_152449:c.*19A>C NA NA UTR3 ENSG00000183060 ENST00000344791:c.*19A>C,ENST00000409796:c.*19A>C,ENST00000545021:c.*19A>C,ENST00000332728:c.*19A>C NA NA NA NA 15q26.3 NA NA NA NA rs6598263 0.97 0.97 0.965 0.962061 1 1 0.9928 0.8601 1 1 1 0.99 0.88 0.9885 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.531811 NA NA 0.99907 0.871766 NA 0.964 NA 1.3457634 1526 2 220356806 220356806 C T intronic SPEG NA NA NA ncRNA_intronic ENSG00000227432 NA NA NA NA NA 2q35 NA NA NA NA rs907146 0.97 0.97 0.958 0.962061 1 1 0.9827 0.8654 1 1 1 0.98 0.87 0.9893 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139479 NA NA 0.999404 0.894185 NA 0.957 NA 1.3446293 1526 3 112289372 112289372 G A intronic SLC35A5 NA NA NA intronic ENSG00000138459 NA NA NA NA NA 3q13.2 NA NA NA NA rs9869579 0.71 0.71 0.692 0.670527 0.9225 0.7381 0.7378 0.2844 0.816 0.92 0.76 0.75 0.3 0.8174 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 0.303181 NA NA 0.915581 0.357467 NA 0.674 NA 1.344519 1526 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 1526 11 74862391 74862391 A G UTR5 SLCO2B1 NM_001145212:c.-36A>G,NM_007256:c.-36A>G NA NA UTR5 ENSG00000137491 ENST00000289575:c.-36A>G,ENST00000341411:c.-14504A>G,ENST00000532236:c.-14504A>G,ENST00000531756:c.-36A>G,ENST00000525650:c.-36A>G,ENST00000454962:c.-14504A>G NA NA NA NA 11q13.4 NA NA NA NA rs1944612 0.97 0.97 0.971 0.975839 1 0.8839 1 1 0.9959 1 0.87 1 1 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 0.383148 NA NA 0.999185 1 NA 0.993 NA 1.3433484 1526 4 20520993 20520993 T C intronic SLIT2 NA NA NA intronic ENSG00000145147 NA NA NA NA NA 4p15.31 NA NA NA NA rs519813 0.9 0.9 0.891 0.923323 0.8807 0.9911 0.9207 0.8873 0.9479 0.86 0.99 0.91 0.84 0.9029 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 2.090342 2.090342 NA 0.873807 0.885507 NA 0.906 NA 1.342593 1526 1 59004979 59004979 C T UTR5 OMA1 NM_145243:c.-13G>A NA NA UTR5 ENSG00000162600 ENST00000358603:c.-13G>A,ENST00000371226:c.-13G>A,ENST00000456980:c.-13G>A,ENST00000419242:c.-13G>A,ENST00000426139:c.-13G>A,ENST00000453710:c.-13G>A,ENST00000482274:c.-13G>A NA NA NA NA 1p32.1 NA NA NA NA rs902925 0.98 0.98 0.981 0.975439 0.999 1 0.9928 0.9115 1 1 1 0.99 0.93 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 0.106764 NA NA 0.999418 0.927298 NA 0.993 NA 1.3420154 1526 14 50670965 50670965 G C intronic SOS2 NA NA NA intronic ENSG00000100485 NA NA NA NA NA 14q21.3 NA NA NA NA rs1075537 0.88 0.88 0.862 0.857827 0.8837 0.8889 0.9265 0.851 0.7597 0.88 0.9 0.92 0.84 0.8833 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 -0.518427 NA NA 0.891112 0.864957 NA 0.855 NA 1.341888 1526 6 151894278 151894278 G T intronic CCDC170 NA NA NA intronic ENSG00000120262 NA NA NA NA NA 6q25.1 NA NA NA NA rs4242277 0.94 0.94 0.955 0.940695 0.8728 0.996 0.9366 0.9932 0.8855 0.87 1 0.92 0.99 0.9059 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.306227 NA NA 0.880191 0.9766 NA 0.971 NA 1.341109 1526 9 127572710 127572710 C G UTR3 OLFML2A NM_182487:c.*19C>G NA NA UTR3 ENSG00000185585 ENST00000373580:c.*19C>G,ENST00000288815:c.*19C>G NA NA NA NA 9q33.3 NA NA NA NA rs7020260 0.98 0.98 0.983 0.980032 0.999 1 0.9899 0.9304 1 1 1 0.99 0.92 0.9937 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.142203 NA NA 0.999535 0.935542 NA 0.957 NA 1.3410984 1526 8 25744257 25744257 G A intronic EBF2 NA NA NA intronic ENSG00000221818 NA NA NA NA NA 8p21.2 NA NA NA NA rs6557865 0.95 0.95 0.959 0.946286 0.8827 0.999 0.9135 0.9962 0.9131 0.89 1 0.91 0.99 0.902 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.041505 NA NA 0.874239 0.972966 NA 0.884 NA 1.341061 1526 10 3155263 3155263 T C intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs7906901 0.86 0.86 0.841 0.876597 0.9046 0.9762 0.879 0.7277 0.9448 0.89 0.98 0.85 0.68 0.8875 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 -0.0739 NA NA 0.867062 0.650682 NA 0.565 NA 1.340838 1526 9 35100002 35100002 T C UTR3 STOML2 NM_013442:c.*30A>G NA NA UTR3 ENSG00000165283 ENST00000356493:c.*30A>G,ENST00000488050:c.*433A>G,ENST00000452248:c.*30A>G NA NA NA NA 9p13.3 NA NA NA NA rs664357 0.99 0.99 0.986 0.983427 0.999 1 0.9957 0.9402 1 1 1 0.99 0.96 0.9941 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.128402 NA NA 0.999535 0.944621 NA 1 NA 1.3406984 1526 11 72295906 72295906 A G intronic PDE2A NA NA NA ncRNA_exonic ENSG00000256633 NA NA NA NA NA 11q13.4 NA NA NA NA rs452228 0.98 0.98 0.979 0.976637 1 1 0.9928 0.9153 1 1 1 1 0.91 0.9937 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.12417 NA NA 0.999534 0.930455 NA 0.964 NA 1.3400993 1526 8 29931375 29931375 T C ncRNA_intronic MIR548O2 NA NA NA intronic ENSG00000133872 NA NA NA NA NA 8p12 NA NA NA NA rs986636 0.98 0.98 0.981 0.974441 1 1 0.9928 0.907 1 1 1 0.99 0.93 0.9934 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.939203 NA NA 0.999884 0.937358 NA 0.964 NA 1.3400493 1526 18 2771516 2771516 G T intronic SMCHD1 NA NA NA ncRNA_intronic ENSG00000266049 NA NA NA NA NA 18p11.32 NA NA NA NA rs300291 0.97 0.97 0.979 0.980431 0.999 1 0.9942 0.9297 1 0.99 0.99 0.98 0.92 0.9949 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.134888 NA NA 0.999506 0.943017 NA 0.957 NA 1.3399273 1526 1 226253316 226253316 G T ncRNA_intronic H3F3AP4 NA NA NA intronic ENSG00000163041 NA NA NA NA NA 1q42.12 NA NA NA NA rs1849032 0.98 0.98 0.98 0.982628 0.999 1 0.9914 0.9402 0.999 1 1 0.99 0.93 0.9948 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.485155 NA NA 0.999651 0.939628 NA 0.978 NA 1.3398823 1526 9 35089048 35089048 A C UTR3 PIGO NM_001201484:c.*41T>G,NM_032634:c.*41T>G,NM_152850:c.*41T>G NA NA UTR3 ENSG00000165282 ENST00000298004:c.*41T>G,ENST00000378617:c.*41T>G,ENST00000361778:c.*41T>G,ENST00000341666:c.*41T>G NA NA NA NA 9p13.3 NA NA NA NA rs556766 0.99 0.99 0.987 0.984026 0.999 1 0.9971 0.9418 1 1 1 1 0.96 0.995 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.652774 NA NA 0.999535 0.948706 NA 1 NA 1.3397984 1526 10 5682641 5682641 C T UTR3 ASB13 NM_024701:c.*25G>A NA NA UTR3 ENSG00000196372 ENST00000459912:c.*421G>A,ENST00000357700:c.*25G>A NA NA NA NA 10p15.1 NA NA NA NA rs7896492 0.99 0.99 0.982 0.976637 1 1 0.9928 0.9153 1 1 1 0.99 0.94 0.9939 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.039963 NA NA 0.999651 0.9335 NA 0.971 NA 1.3397824 1526 7 42977195 42977195 G A UTR3 MRPL32 NM_031903:c.*20G>A NA NA UTR3 ENSG00000106591 ENST00000223324:c.*20G>A,ENST00000432845:c.*2368G>A,ENST00000413995:c.*341G>A NA NA NA NA 7p14.1 NA NA NA NA rs631561 0.98 0.98 0.982 0.983227 0.999 1 0.9971 0.9387 1 1 1 1 0.94 0.9953 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.847733 1.847733 NA 0.999884 0.951884 NA 0.978 NA 1.3391494 1526 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 1526 17 46970836 46970836 A G intronic ATP5G1 NA NA NA ncRNA_intronic ENSG00000248278 NA NA NA NA NA 17q21.32 NA NA NA NA rs684682 0.98 0.98 0.981 0.982827 1 1 0.9971 0.9365 1 1 1 0.99 0.94 0.9944 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.378711 1.378711 NA 0.999884 0.941443 NA 0.964 NA 1.3390493 1526 12 56625045 56625045 T C UTR5 SLC39A5 NM_173596:c.-14T>C,NM_001135195:c.-14T>C NA NA UTR5 ENSG00000139540 ENST00000419753:c.-14T>C,ENST00000424625:c.-14T>C,ENST00000454355:c.-14T>C,ENST00000417965:c.-14T>C,ENST00000436633:c.-14T>C,ENST00000266980:c.-14T>C,ENST00000437277:c.-14T>C NA NA NA NA 12q13.3 NA NA NA NA rs1274497 0.99 0.99 0.992 0.989816 0.999 1 0.9957 0.9644 1 1 1 1 0.97 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 0.228219 NA NA 0.999165 0.967757 NA 0.949 NA 1.3387684 1526 4 8602816 8602816 A G UTR5 CPZ NM_001014448:c.-324A>G NA NA UTR5;UTR3 ENSG00000109625;ENSG00000109625 ENST00000382480:c.-324A>G;ENST00000515606:c.*141A>G NA NA NA NA 4p16.1 NA NA NA NA rs4594711 0.98 0.98 0.976 0.982827 1 1 0.9971 0.9365 1 1 1 1 0.91 0.995 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.045451 NA NA 0.999884 0.948252 NA 0.942 NA 1.3384494 1526 11 60617646 60617646 T C intronic CCDC86 NA NA NA ncRNA_intronic ENSG00000256813 NA NA NA NA NA 11q12.2 NA NA NA NA rs495949 0.99 0.99 0.987 0.984625 1 1 0.9942 0.9448 1 1 1 0.99 0.95 0.9958 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.728784 NA NA 1 0.955742 NA 0.986 NA 1.3375333 1526 16 8740015 8740015 A C UTR3 METTL22 NM_024109:c.*15A>C NA NA UTR3 ENSG00000067365 ENST00000381920:c.*15A>C,ENST00000163678:c.*571A>C,ENST00000561758:c.*15A>C,ENST00000572956:c.*181A>C,ENST00000565866:c.*361A>C NA NA NA NA 16p13.2 NA NA NA NA rs1730994 0.99 0.99 0.994 0.985423 1 1 0.9928 0.9486 1 1 1 0.99 0.97 0.9961 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.590082 NA NA 1 0.958766 NA 1 NA 1.3372334 1526 20 1292964 1292964 T C ncRNA_intronic FKBP1A-SDCBP2 NA NA NA intronic ENSG00000125775 NA NA NA NA NA 20p13 NA NA NA NA rs4814110 1 1 0.996 0.992612 1 1 0.9986 0.9728 1 1 1 1 0.98 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 -0.704081 NA NA 0.99907 0.97911 NA 0.993 NA 1.3367633 1526 2 158291188 158291188 A C intronic CYTIP NA NA NA intronic ENSG00000115165 NA NA NA NA NA 2q24.1 NA NA NA NA rs11904180 0.82 0.82 0.817 0.816094 0.9105 0.8363 0.8271 0.6664 0.8926 0.91 0.86 0.84 0.61 0.8657 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 0.592855 NA NA 0.887442 0.724342 NA 0.783 NA 1.336358 1526 4 69434217 69434217 G A UTR5 UGT2B17 NM_001077:c.-15C>T NA NA UTR5 ENSG00000197888 ENST00000317746:c.-15C>T NA NA NA NA 4q13.2 NA NA NA NA rs28672900 0.99 0.99 0.988 0.99401 1 1 1 0.9773 1 0.99 0.98 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 -0.840553 NA NA 0.999494 0.97512 NA 0.529 NA 1.3362394 1526 4 55948108 55948108 A G intronic KDR NA NA NA ncRNA_intronic ENSG00000250646 NA NA NA NA NA 4q12 NA NA NA NA rs2412617 1 1 0.998 0.996805 0.999 1 0.9957 0.9909 1 1 1 0.99 0.99 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.16841 NA NA 0.999651 0.993645 NA 0.993 NA 1.3360823 1526 19 11326629 11326629 C A intronic DOCK6 NA NA NA ncRNA_intronic ENSG00000267082 NA NA NA NA NA 19p13.2 NA NA NA NA rs10403991 1 1 1 0.9998 0.999 1 1 1 1 1 1 1 1 0.9996 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22793 NA NA 0.998663 0.999736 NA 1 NA 1.3360703 1526 15 28377772 28377772 C T intronic HERC2 NA NA NA intronic ENSG00000128731 NA NA NA NA NA 15q13.1 NA NA NA NA rs8025035 0.69 0.69 0.623 0.623602 0.8956 0.5833 0.8573 0.3336 0.6115 0.92 0.58 0.86 0.32 0.8338 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 -0.561223 NA NA 0.934849 0.462333 NA 0.667 NA 1.335751 1527 9 131570183 131570183 C G UTR3 TBC1D13 NM_018201:c.*25C>G NA NA UTR3 ENSG00000107021 ENST00000372648:c.*25C>G,ENST00000539497:c.*25C>G,ENST00000223865:c.*25C>G NA NA NA NA 9q34.11 NA NA NA NA rs7862546 1 1 0.999 0.997204 1 1 0.9986 0.9902 1 1 1 1 0.99 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.919863 NA NA 1 0.98502 NA 1 NA 1.3347334 1527 4 140625323 140625323 A G UTR3 MGST2 NM_002413:c.*21A>G,NM_001204368:c.*160A>G,NM_001204367:c.*21A>G,NM_001204366:c.*21A>G NA NA UTR3 ENSG00000085871 ENST00000265498:c.*21A>G,ENST00000506797:c.*160A>G,ENST00000503816:c.*21A>G NA NA NA NA 4q31.1 NA NA NA NA rs925424 1 1 0.994 0.994808 1 1 0.9971 0.9818 1 1 1 1 0.99 0.9988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.722974 NA NA 1 0.987744 NA 0.993 NA 1.3345334 1527 1 152681543 152681543 T C UTR5 LCE4A NM_178356:c.-9T>C NA NA UTR5 ENSG00000187170 ENST00000368777:c.-9T>C,ENST00000335535:c.-9T>C NA NA NA NA 1q21.3 NA NA NA NA rs1332496 1 1 1 0.9998 1 1 1 1 0.999 1 1 1 1 0.9996 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.569283 NA NA 0.999419 1 NA 1 NA 1.3343144 1527 18 44635048 44635048 C T UTR3 HDHD2 NM_032124:c.*5G>A NA NA UTR3 ENSG00000167220 ENST00000300605:c.*5G>A,ENST00000588183:c.*657G>A NA NA NA NA 18q21.1 NA NA NA NA rs2635058 1 1 0.995 0.996605 1 1 0.9986 0.9879 1 1 1 1 0.99 0.9991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.758245 NA NA 1 0.988652 NA 1 NA 1.3342334 1527 2 175622788 175622788 G A intronic CHRNA1 NA NA NA ncRNA_intronic ENSG00000236449 NA NA NA NA NA 2q31.1 NA NA NA NA rs2646164 1 1 0.999 0.998203 1 1 0.9986 0.9939 1 1 1 1 1 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.589138 2.589138 NA 0.999884 0.993642 NA 1 NA 1.3341493 1527 15 45409271 45409271 C T intronic DUOXA2 NA NA NA intronic ENSG00000140274 NA NA NA NA NA 15q21.1 NA NA NA NA rs955152 0.71 0.71 0.676 0.684105 0.9125 0.8819 0.7839 0.1203 0.9366 0.91 0.86 0.83 0.13 0.8517 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 -0.517774 NA NA 0.901768 0.287926 NA 0.696 NA 1.334032 1527 3 134280395 134280395 T A UTR3 CEP63 NM_001042383:c.*18T>A,NM_001042400:c.*18T>A,NM_025180:c.*18T>A NA NA UTR3 ENSG00000182923 ENST00000332047:c.*18T>A,ENST00000337090:c.*18T>A,ENST00000383229:c.*18T>A,ENST00000513612:c.*18T>A,ENST00000606977:c.*18T>A NA NA NA NA 3q22.2 NA NA NA NA rs6777283 1 1 0.998 0.996805 1 1 0.9986 0.9887 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 1.596064 1.596064 NA 1 0.995461 NA 1 NA 1.3338334 1527 2 26818006 26818006 T C intronic CIB4 NA NA NA intronic ENSG00000157884 NA NA NA NA NA 2p23.3 NA NA NA NA rs1148962 0.88 0.88 0.859 0.878195 0.8926 0.997 0.9121 0.7284 0.9192 0.89 1 0.91 0.73 0.8901 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.369489 NA NA 0.883605 0.761462 NA 0.913 NA 1.333695 1527 8 103220351 103220351 A G UTR3 RRM2B NM_001172478:c.*10T>C,NM_001172477:c.*10T>C,NM_015713:c.*10T>C NA NA UTR3 ENSG00000048392 ENST00000251810:c.*10T>C,ENST00000522368:c.*10T>C NA NA NA NA 8q22.3 NA NA NA NA rs1265117 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 -0.376105 NA NA 1 0.999773 NA 0.971 NA 1.3334334 1527 3 176765253 176765253 G A intronic TBL1XR1 NA NA NA ncRNA_intronic ENSG00000231310 NA NA NA NA NA 3q26.32 NA NA NA NA rs1201300 1 1 1 1 1 1 1 1 1 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 -0.340108 NA NA 1 0.999724 NA 1 NA 1.3333333 1527 18 21694618 21694618 G A intronic TTC39C NA NA NA ncRNA_intronic ENSG00000264924 NA NA NA NA NA 18q11.2 NA NA NA NA rs4800176 1 1 1 1 1 1 1 1 1 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 0.904558 NA NA 1 0.999773 NA 1 NA 1.3333333 1527 3 133698280 133698280 C G intronic SLCO2A1 NA NA NA intronic ENSG00000174640 NA NA NA NA NA 3q22.1 NA NA NA NA rs4640563 0.9 0.9 0.913 0.896965 0.8897 0.9375 0.9222 0.8767 0.8722 0.9 0.94 0.91 0.87 0.8963 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 -0.212389 NA NA 0.88093 0.874489 NA 0.87 NA 1.33307 1527 7 31594166 31594166 C T intronic CCDC129 NA NA NA intronic ENSG00000180347 NA NA NA NA NA 7p14.3 NA NA NA NA rs2286710 0.76 0.76 0.774 0.739816 0.9175 0.7857 0.7003 0.5749 0.7607 0.92 0.77 0.72 0.53 0.8313 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 0.069314 NA NA 0.918818 0.63232 NA 0.746 NA 1.332382 1527 6 161509003 161509003 T A intronic MAP3K4 NA NA NA intronic ENSG00000085511 NA NA NA NA NA 6q26 NA NA NA NA rs9355332 0.94 0.94 0.949 0.950479 0.8887 0.995 0.8847 0.9947 0.955 0.89 0.99 0.89 1 0.9055 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.77664 NA NA 0.874302 0.971176 NA 0.949 NA 1.331498 1527 9 136594864 136594864 A G intronic SARDH NA NA NA intronic ENSG00000123453 NA NA NA NA NA 9q34.2 NA NA NA NA rs2427988 0.82 0.82 0.776 0.778954 0.9026 0.8621 0.9366 0.562 0.7474 0.9 0.86 0.92 0.57 0.8649 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 2.221267 2.221267 NA 0.901047 0.619837 NA 0.739 NA 1.331453 1527 1 229783236 229783236 T C intronic URB2 NA NA NA intronic ENSG00000135763 NA NA NA NA NA 1q42.13 NA NA NA NA rs6587349 0.94 0.94 0.942 0.963458 0.8807 1 0.9467 0.9902 0.9867 0.88 1 0.93 0.98 0.9137 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.076674 NA NA 0.874767 0.974807 NA 0.957 NA 1.330833 1527 7 87032613 87032613 A G intronic ABCB4 NA NA NA intronic ENSG00000005471 NA NA NA NA NA 7q21.12 NA NA NA NA rs31653 0.87 0.87 0.875 0.879992 0.8936 0.7272 0.8689 0.9932 0.8783 0.89 0.71 0.9 0.99 0.8775 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 -0.263818 NA NA 0.89907 0.970949 NA 0.87 NA 1.32983 1527 16 81151163 81151163 C T intronic PKD1L2 NA NA NA intronic ENSG00000166473 NA NA NA NA NA 16q23.2 NA NA NA NA rs8053191 0.77 0.77 0.79 0.724641 0.9165 0.7688 0.6354 0.5862 0.7321 0.91 0.76 0.7 0.62 0.8292 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 0.149747 NA NA 0.925411 0.677263 NA 0.819 NA 1.328889 1527 13 30805627 30805627 A G intronic KATNAL1 NA NA NA intronic ENSG00000102781 NA NA NA NA NA 13q12.3 NA NA NA NA rs202087 0.91 0.91 0.902 0.88738 0.8966 0.9514 0.9236 0.8828 0.7924 0.9 0.96 0.9 0.88 0.8888 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 -0.145409 NA NA 0.885904 0.886745 NA 0.833 NA 1.328696 1527 17 53851078 53851078 T C intronic PCTP NA NA NA UTR3 ENSG00000141179 ENST00000417982:c.*6T>C NA NA NA NA 17q22 NA NA NA NA rs2912558 0.81 0.81 0.765 0.777955 0.9612 0.9405 0.8487 0.3691 0.9243 0.96 0.94 0.86 0.38 0.9073 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 -0.647304 NA NA 0.969884 0.49251 NA 0.739 NA 1.3282827 1527 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 1527 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 1527 13 26974562 26974562 G A intronic CDK8 NA NA NA intronic ENSG00000132964 NA NA NA NA NA 13q12.13 NA NA NA NA rs998692 0.8 0.8 0.782 0.746006 0.9095 0.9296 0.8372 0.4085 0.7802 0.91 0.95 0.84 0.42 0.853 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 0.37041 NA NA 0.911279 0.458239 NA 0.659 NA 1.326221 1527 21 42767733 42767733 T C intronic MX2 NA NA NA intronic ENSG00000183486 NA NA NA NA NA 21q22.3 NA NA NA NA rs440364 0.87 0.87 0.866 0.853035 0.8966 0.9702 0.928 0.6762 0.8732 0.9 0.97 0.91 0.67 0.8827 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 -0.401086 NA NA 0.894535 0.697231 NA 0.812 NA 1.326165 1528 1 248005213 248005213 G C upstream OR11L1 NA NA NA UTR5 ENSG00000197591 ENST00000355784:c.-15C>G NA NA NA NA 1q44 NA NA NA NA rs7522811 0.86 0.86 0.845 0.844848 0.8986 0.996 0.8573 0.6218 0.9264 0.91 1 0.87 0.63 0.8926 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.066646 NA NA 0.884079 0.684259 NA 0.819 NA 1.324721 1528 14 24910846 24910846 C T intronic SDR39U1 NA NA NA intronic ENSG00000100445 NA NA NA NA NA 14q12 NA NA NA NA rs11628143 0.8 0.8 0.78 0.764976 0.9036 0.8383 0.8516 0.4667 0.8885 0.92 0.83 0.86 0.54 0.8605 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 0.389688 NA NA 0.912044 0.546077 NA 0.783 NA 1.323856 1528 3 57137090 57137090 A G intronic IL17RD NA NA NA intronic ENSG00000144730 NA NA NA NA NA 3p14.3 NA NA NA NA rs2247656 0.77 0.77 0.73 0.79373 0.9036 0.5208 0.8948 0.7451 0.956 0.9 0.52 0.91 0.73 0.8719 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 0.223168 NA NA 0.900651 0.77692 NA 0.848 NA 1.323849 1528 14 21831112 21831112 G A intronic SUPT16H NA NA NA intronic ENSG00000092201 NA NA NA NA NA 14q11.2 NA NA NA NA rs10146717 0.82 0.82 0.81 0.799321 0.9076 0.8869 0.7781 0.5741 0.9172 0.9 0.9 0.83 0.58 0.8612 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 0.485183 NA NA 0.907791 0.630504 NA 0.783 NA 1.323409 1528 10 7622047 7622047 A G intronic ITIH5 NA NA NA intronic ENSG00000123243 NA NA NA NA NA 10p14 NA NA NA NA rs12256183 0.91 0.91 0.883 0.885383 0.8996 1 0.9409 0.7723 0.8661 0.9 1 0.93 0.8 0.8816 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273183 NA NA 0.895508 0.777021 NA 0.891 NA 1.323292 1528 14 21874068 21874068 G C intronic CHD8 NA NA NA intronic ENSG00000100888 NA NA NA NA NA 14q11.2 NA NA NA NA rs7155123 0.81 0.81 0.8 0.794129 0.9066 0.8869 0.7752 0.556 0.9182 0.9 0.9 0.83 0.56 0.8616 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 -0.040156 NA NA 0.908655 0.623402 NA 0.768 NA 1.323145 1528 1 60505578 60505578 A G intronic C1orf87 NA NA NA intronic ENSG00000162598 NA NA NA NA NA 1p32.1 NA NA NA NA rs680390 0.84 0.84 0.835 0.852037 0.9006 0.7004 0.8012 0.9198 0.9029 0.9 0.71 0.8 0.92 0.8704 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 -0.025633 NA NA 0.905908 0.905313 NA 0.935 NA 1.323092 1528 1 109839392 109839392 A G intronic MYBPHL NA NA NA intronic ENSG00000221986 NA NA NA NA NA 1p13.3 NA NA NA NA rs604349 0.79 0.79 0.746 0.752995 0.9046 0.9722 0.8977 0.2663 0.9264 0.91 0.97 0.89 0.32 0.8676 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 -0.407892 NA NA 0.905116 0.363368 NA 0.754 NA 1.322684 1528 14 21829404 21829404 T C intronic SUPT16H NA NA NA intronic ENSG00000092201 NA NA NA NA NA 14q11.2 NA NA NA NA rs1543494 0.83 0.83 0.829 0.81849 0.9056 0.8869 0.7824 0.6452 0.9182 0.9 0.9 0.83 0.67 0.8669 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 0.467475 NA NA 0.905233 0.682107 NA 0.812 NA 1.322267 1528 2 153492910 153492910 G T intronic FMNL2 NA NA NA intronic ENSG00000157827 NA NA NA NA NA 2q23.3 NA NA NA NA rs1561267 0.84 0.84 0.804 0.826478 0.8946 0.8532 0.9121 0.6747 0.8732 0.9 0.86 0.88 0.69 0.8844 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 -0.605632 NA NA 0.899952 0.737047 NA 0.804 NA 1.321048 1528 12 133349893 133349893 A G intronic GOLGA3 NA NA NA intronic ENSG00000090615 NA NA NA NA NA 12q24.33 NA NA NA NA rs3741484 0.74 0.74 0.74 0.780351 0.9105 0.5575 0.7752 0.7443 0.9284 0.9 0.54 0.77 0.73 0.8387 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 -0.647221 NA NA 0.931589 0.789786 NA 0.848 NA 1.319211 1528 13 37569200 37569200 A G intronic ALG5 NA NA NA intronic ENSG00000120697 NA NA NA NA NA 13q13.3 NA NA NA NA rs2323165 0.94 0.94 0.949 0.951677 0.8966 1 0.9035 0.9773 0.9581 0.89 1 0.91 0.97 0.9084 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.077258 NA NA 0.876221 0.957234 NA 0.899 NA 1.318779 1528 10 135086380 135086380 C T intronic ADAM8 NA NA NA intronic ENSG00000151651 NA NA NA NA NA 10q26.3 NA NA NA NA rs3008324 0.9 0.9 0.896 0.89377 0.8976 0.9286 0.8386 0.9054 0.8773 0.89 0.94 0.86 0.91 0.8934 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 0.171818 NA NA 0.891021 0.893297 NA 0.855 NA 1.317979 1528 1 117660608 117660608 C T intronic TRIM45 NA NA NA intronic ENSG00000134253 NA NA NA NA NA 1p13.1 NA NA NA NA rs1289655 0.87 0.87 0.866 0.868011 0.9056 0.8671 0.8804 0.7973 0.9172 0.91 0.89 0.88 0.78 0.8829 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 -0.316407 NA NA 0.893605 0.83409 NA 0.899 NA 1.317895 1528 10 135076758 135076758 T C intronic ADAM8 NA NA NA intronic ENSG00000151651 NA NA NA NA NA 10q26.3 NA NA NA NA rs3008318 0.9 0.9 0.901 0.895168 0.8976 0.9286 0.8372 0.9168 0.8701 0.89 0.94 0.85 0.92 0.8945 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 -0.032992 NA NA 0.890349 0.903541 NA 0.899 NA 1.317551 1528 3 14708918 14708918 A G intronic CCDC174 NA NA NA intronic ENSG00000154781 NA NA NA NA NA 3p25.1 NA NA NA NA rs2280383 0.78 0.78 0.778 0.758187 0.9066 0.6845 0.8228 0.5711 0.8885 0.91 0.72 0.84 0.63 0.8625 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 0.484659 NA NA 0.913721 0.657286 NA 0.746 NA 1.317179 1528 1 161049358 161049358 G A intronic PVRL4 NA NA NA intronic ENSG00000143217 NA NA NA NA NA 1q23.3 NA NA NA NA rs3820097 0.86 0.86 0.871 0.860623 0.9105 0.6756 0.8775 0.9871 0.817 0.9 0.68 0.88 0.98 0.8664 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 -0.066004 NA NA 0.906032 0.971247 NA 0.913 NA 1.317068 1528 16 86575460 86575460 C G intronic MTHFSD NA NA NA intronic ENSG00000103248 NA NA NA NA NA 16q24.1 NA NA NA NA rs3213418 0.84 0.84 0.821 0.83147 0.9036 0.8383 0.8934 0.6626 0.9346 0.9 0.85 0.89 0.71 0.8817 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 -0.468181 NA NA 0.897886 0.709554 NA 0.833 NA 1.316814 1528 11 836023 836023 C T intronic CD151 NA NA NA UTR5 ENSG00000177697 ENST00000526439:c.-47C>T NA NA NA NA 11p15.5 NA NA NA NA rs28475448 0.97 0.97 0.95 0.967252 0.9483 0.999 0.9769 0.9349 0.9908 0.95 1 0.98 0.94 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 -0.869926 NA NA 0.946217 0.946925 NA 0.775 NA 1.3159497 1528 15 90161355 90161355 G A intronic TICRR NA NA NA intronic ENSG00000140534 NA NA NA NA NA 15q26.1 NA NA NA NA rs2289486 0.86 0.86 0.868 0.855631 0.8976 0.7321 0.7882 0.9766 0.8241 0.9 0.72 0.82 0.97 0.8738 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 0.571527 NA NA 0.912792 0.962226 ID=COSN165042;OCCURENCE=1(breast) 0.855 NA 1.315808 1528 2 26652671 26652671 A G intronic DRC1 NA NA NA intronic ENSG00000157856 NA NA NA NA NA 2p23.3 NA NA NA NA rs4356622 0.74 0.74 0.702 0.775559 0.9135 0.4306 0.7176 0.8805 0.8885 0.92 0.38 0.77 0.86 0.8499 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 0.972896 NA NA 0.920814 0.888561 NA 0.826 NA 1.315786 1528 8 69104521 69104521 A G intronic PREX2 NA NA NA intronic ENSG00000046889 NA NA NA NA NA 8q13.2 NA NA NA NA rs6472389 0.94 0.94 0.935 0.939696 0.8917 1 0.9308 0.9183 0.9622 0.9 1 0.93 0.92 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 0.634362 NA NA 0.882907 0.90808 NA 0.862 NA 1.315493 1528 19 46815297 46815297 T C intronic HIF3A NA NA NA intronic ENSG00000124440 NA NA NA NA NA 19q13.32 NA NA NA NA rs8101216 0.83 0.83 0.829 0.827476 0.9155 0.873 0.8357 0.6762 0.8885 0.92 0.88 0.81 0.66 0.8694 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 0.37791 NA NA 0.899799 0.704338 NA 0.841 NA 1.315301 1528 16 88776297 88776297 T C intronic CTU2 NA NA NA intronic ENSG00000174177 NA NA NA NA NA 16q24.3 NA NA NA NA rs4390574 0.87 0.87 0.859 0.854034 0.8917 0.8889 0.8458 0.851 0.7894 0.89 0.89 0.86 0.82 0.8819 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 -0.384671 NA NA 0.911163 0.86465 NA 0.804 NA 1.315237 1528 18 67741117 67741117 G A intronic RTTN NA NA NA intronic ENSG00000176225 NA NA NA NA NA 18q22.2 NA NA NA NA rs1369292 0.77 0.77 0.733 0.726238 0.9076 0.994 0.8458 0.2057 0.8824 0.91 1 0.85 0.23 0.8623 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.681215 NA NA 0.914928 0.340822 NA 0.616 NA 1.315172 1529 10 135084322 135084322 A G intronic ADAM8 NA NA NA intronic ENSG00000151651 NA NA NA NA NA 10q26.3 NA NA NA NA rs3008321 0.91 0.91 0.901 0.902556 0.8986 0.9286 0.8372 0.9387 0.8773 0.89 0.94 0.86 0.93 0.8956 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 0.583285 NA NA 0.891527 0.921412 NA 0.899 NA 1.314273 1529 8 22886130 22886130 A G intronic TNFRSF10B NA NA NA intronic ENSG00000120889 NA NA NA NA NA 8p21.3 NA NA NA NA rs2293399 0.88 0.88 0.876 0.86222 0.8966 0.9861 0.8761 0.7307 0.8671 0.91 0.98 0.84 0.74 0.8893 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 -0.409086 NA NA 0.900465 0.7601 NA 0.79 NA 1.313635 1529 9 132635944 132635944 C G intronic USP20 NA NA NA intronic ENSG00000136878 NA NA NA NA NA 9q34.11 NA NA NA NA rs2296787 0.87 0.87 0.833 0.851637 0.9066 0.9831 0.9035 0.6498 0.8957 0.91 0.98 0.88 0.67 0.8932 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 -0.675179 NA NA 0.886713 0.703297 NA 0.884 NA 1.313487 1529 17 67150176 67150176 T C intronic ABCA10 NA NA NA intronic ENSG00000154263 NA NA NA NA NA 17q24.3 NA NA NA NA rs2886232 0.94 0.94 0.944 0.963059 0.8867 1 0.9496 0.9932 0.9724 0.88 1 0.92 0.98 0.9208 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.278912 NA NA 0.880321 0.979119 NA 0.92 NA 1.312179 1529 6 26505135 26505135 C T intronic BTN1A1 NA NA NA intronic ENSG00000124557 NA NA NA NA NA 6p22.2 NA NA NA NA rs3736780 0.92 0.92 0.917 0.933307 0.8867 0.9593 0.938 0.9365 0.9468 0.89 0.95 0.92 0.93 0.9095 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 -0.639255 NA NA 0.891744 0.94099 NA 0.841 NA 1.312056 1529 1 43663376 43663376 A G intronic WDR65 NA NA NA intronic ENSG00000243710 NA NA NA NA NA 1p34.2 NA NA NA NA rs513009 0.76 0.76 0.751 0.71885 0.9324 0.6806 0.7378 0.5454 0.7597 0.93 0.7 0.78 0.54 0.8344 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 0.899301 NA NA 0.921163 0.58148 NA 0.79 NA 1.312037 1529 3 195789428 195789428 C A intronic TFRC NA NA NA intronic ENSG00000072274 NA NA NA NA NA 3q29 NA NA NA NA rs507131 0.65 0.65 0.652 0.65615 0.9394 0.3194 0.7291 0.5151 0.8507 0.94 0.31 0.73 0.51 0.8239 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 0.854104 NA NA 0.925349 0.608034 NA 0.761 NA 1.311351 1529 16 1364281 1364281 T C intronic UBE2I NA NA NA intronic ENSG00000103275 NA NA NA NA NA 16p13.3 NA NA NA NA rs4984806 0.94 0.94 0.922 0.950479 0.8857 1 0.9308 0.9705 0.953 0.88 1 0.91 0.98 0.9193 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.595656 NA NA 0.883953 0.962011 NA 0.971 NA 1.311047 1529 6 151281567 151281567 T C intronic MTHFD1L NA NA NA intronic ENSG00000120254 NA NA NA NA NA 6q25.1 NA NA NA NA rs1771798 0.85 0.85 0.829 0.826478 0.8996 0.877 0.9308 0.6868 0.8139 0.9 0.86 0.92 0.7 0.885 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 0.954214 NA NA 0.905166 0.726736 NA 0.725 NA 1.310234 1529 2 25656880 25656880 C G intronic DTNB NA NA NA intronic ENSG00000138101 NA NA NA NA NA 2p23.3 NA NA NA NA rs1395949 0.84 0.84 0.842 0.816294 0.9026 0.7262 0.7406 0.8533 0.8241 0.91 0.78 0.78 0.85 0.8657 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 -0.692421 NA NA 0.92153 0.870582 NA 0.891 NA 1.31017 1529 9 139946804 139946804 C G intronic ENTPD2 NA NA NA intronic ENSG00000054179 NA NA NA NA NA 9q34.3 NA NA NA NA rs2271867 0.89 0.89 0.877 0.90655 0.8897 0.8909 0.9236 0.9115 0.9213 0.89 0.87 0.92 0.9 0.9062 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 -0.579724 NA NA 0.894186 0.908719 NA 0.739 NA 1.309914 1529 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 1529 16 1388888 1388888 C T intronic BAIAP3 NA NA NA intronic ENSG00000007516 NA NA NA NA NA 16p13.3 NA NA NA NA rs7197416 0.94 0.94 0.95 0.946286 0.8986 1 0.928 0.9713 0.9192 0.89 1 0.91 0.98 0.9138 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.361885 NA NA 0.880349 0.960664 NA 0.964 NA 1.307251 1529 14 71227913 71227913 A C intronic MAP3K9 NA NA NA intronic ENSG00000006432 NA NA NA NA NA 14q24.2 NA NA NA NA rs3814872 0.87 0.87 0.869 0.872204 0.9125 0.7877 0.8689 0.9138 0.864 0.91 0.79 0.87 0.89 0.8939 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 -0.318791 NA NA 0.887558 0.906945 NA 0.87 NA 1.306042 1529 9 138591230 138591230 C T intronic SOHLH1 NA NA NA intronic ENSG00000165643 NA NA NA NA NA 9q34.3 NA NA NA NA rs558113 0.81 0.81 0.791 0.808506 0.9145 0.6627 0.8285 0.7716 0.8855 0.92 0.72 0.83 0.74 0.8714 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 0.528702 NA NA 0.908456 0.80041 NA 0.754 NA 1.305644 1529 19 8994373 8994373 A G intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs873869 0.9 0.9 0.919 0.90595 0.8926 0.8651 0.8401 0.9667 0.9264 0.87 0.89 0.86 0.97 0.8948 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 -0.657203 NA NA 0.907029 0.955712 NA 0.942 NA 1.305571 1529 22 24109550 24109550 T C intronic CHCHD10 NA NA NA intronic ENSG00000250479 NA NA NA NA NA 22q11.23 NA NA NA NA rs131444 0.88 0.88 0.891 0.871006 0.9145 0.7391 0.8833 0.9864 0.7975 0.92 0.75 0.87 0.99 0.8789 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 1.527604 1.527604 NA 0.901327 0.967911 NA 0.899 NA 1.305273 1529 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 1530 20 60892692 60892692 C T intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA NA NA NA rs6062216 0.88 0.88 0.891 0.868411 0.8917 0.9702 0.8862 0.8033 0.8149 0.9 0.96 0.86 0.78 0.8886 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 0.093703 NA NA 0.915632 0.813884 NA 0.696 NA 1.304068 1530 16 88780923 88780923 C G intronic CTU2 NA NA NA intronic ENSG00000174177 NA NA NA NA NA 16q24.3 NA NA NA NA rs8050715 0.87 0.87 0.874 0.860423 0.8946 0.9405 0.8444 0.789 0.8507 0.89 0.95 0.86 0.76 0.8896 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 -0.132369 NA NA 0.9128 0.806267 NA 0.797 NA 1.303 1530 12 50386015 50386015 C T intronic RACGAP1 NA NA NA intronic ENSG00000161800 NA NA NA NA NA 12q13.12 NA NA NA NA rs296737 0.75 0.75 0.699 0.692692 0.9314 0.9246 0.8012 0.18 0.8241 0.93 0.91 0.85 0.24 0.8461 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 -1.672388 NA NA 0.919767 0.285293 NA 0.594 NA 1.302733 1530 21 43258000 43258000 T C intronic PRDM15 NA NA NA intronic ENSG00000141956 NA NA NA NA NA 21q22.3 NA NA NA NA rs8127003 0.86 0.86 0.857 0.860423 0.8976 0.7331 0.8847 0.9463 0.82 0.91 0.71 0.89 0.93 0.8884 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 0.567436 NA NA 0.912558 0.947345 NA 0.804 NA 1.301442 1530 4 78669454 78669454 A G intronic CNOT6L NA NA NA intronic ENSG00000138767 NA NA NA NA NA 4q21.1 NA NA NA NA rs6855336 0.86 0.86 0.854 0.832069 0.9185 0.8165 0.9049 0.7791 0.7791 0.92 0.83 0.91 0.79 0.8733 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 1.624908 1.624908 NA 0.907171 0.795669 NA 0.913 NA 1.301029 1530 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 1530 1 26612042 26612042 A G intronic UBXN11 NA NA NA intronic ENSG00000158062 NA NA NA NA NA 1p36.11 NA NA NA NA rs11247898 0.76 0.76 0.798 0.722843 0.9304 0.4583 0.6945 0.882 0.5869 0.93 0.47 0.73 0.85 0.8326 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 1.739855 1.739855 NA 0.937134 0.881906 NA 0.79 NA 1.299866 1530 13 37625601 37625601 T C intronic SUPT20H NA NA NA intronic ENSG00000102710 NA NA NA NA NA 13q13.3 NA NA NA NA rs1543738 0.87 0.87 0.853 0.859225 0.9125 1 0.8948 0.6172 0.9611 0.91 1 0.9 0.63 0.8962 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.091709 2.091709 NA 0.894651 0.653654 NA 0.783 NA 1.296649 1530 2 30986989 30986989 G T intronic CAPN13 NA NA NA intronic ENSG00000162949 NA NA NA NA NA 2p23.1 NA NA NA NA rs579016 0.88 0.88 0.865 0.871406 0.8926 0.8631 0.9366 0.7761 0.9407 0.91 0.88 0.94 0.78 0.9042 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 -0.260518 NA NA 0.90658 0.815908 NA 0.855 NA 1.29662 1530 1 1262591 1262591 C T intronic GLTPD1 NA NA NA intronic ENSG00000224051 NA NA NA NA NA 1p36.33 NA NA NA NA rs2296472 0.75 0.75 0.756 0.719848 0.9195 0.8323 0.8573 0.3253 0.8344 0.92 0.83 0.83 0.34 0.8515 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 -0.821399 NA NA 0.93314 0.421172 NA 0.739 NA 1.29586 1530 2 29383374 29383374 G A intronic CLIP4 NA NA NA intronic ENSG00000115295 NA NA NA NA NA 2p23.2 NA NA NA NA rs2305450 0.87 0.87 0.844 0.863618 0.9085 0.876 0.9222 0.8048 0.8425 0.92 0.86 0.91 0.8 0.8924 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 -0.804759 NA NA 0.90407 0.823877 NA 0.87 NA 1.29503 1531 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 1531 2 202025131 202025131 G A intronic CFLAR NA NA NA intronic ENSG00000003402 NA NA NA NA NA 2q33.1 NA NA NA NA rs2518142 0.87 0.87 0.876 0.83766 0.9274 0.8591 0.889 0.8306 0.6963 0.93 0.83 0.89 0.8 0.8697 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 -0.556203 NA NA 0.9087 0.845665 NA 0.87 NA 1.2942 1531 10 50691360 50691360 T C intronic ERCC6 NA NA NA intronic ENSG00000225830 NA NA NA NA NA 10q11.23 NA NA NA NA rs4253162 0.88 0.88 0.877 0.88758 0.8946 0.999 0.9395 0.7163 0.9601 0.89 1 0.92 0.69 0.9071 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.767656 1.767656 NA 0.904302 0.741943 NA 0.841 NA 1.293998 1531 5 134344497 134344497 T C intronic CATSPER3 NA NA NA intronic ENSG00000152705 NA NA NA NA NA 5q31.1 NA NA NA NA rs299376 0.94 0.94 0.947 0.94389 0.9026 0.999 0.8444 0.9932 0.9335 0.9 1 0.86 0.99 0.9107 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.192947 NA NA 0.894419 0.973672 NA 0.92 NA 1.292281 1531 11 45959669 45959669 C T intronic PHF21A NA NA NA intronic ENSG00000135365 NA NA NA NA NA 11p11.2 NA NA NA NA rs10742773 0.89 0.89 0.872 0.868211 0.9016 0.998 0.9265 0.6989 0.8875 0.91 1 0.93 0.68 0.9027 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.385015 NA NA 0.903582 0.737738 NA 0.812 NA 1.292118 1531 9 16738312 16738312 A G intronic BNC2 NA NA NA intronic ENSG00000173068 NA NA NA NA NA 9p22.2 NA NA NA NA rs7858712 0.9 0.9 0.897 0.872604 0.9125 0.9097 0.8818 0.8971 0.7536 0.91 0.92 0.86 0.89 0.883 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 -0.231161 NA NA 0.913372 0.896505 NA 0.906 NA 1.291128 1531 20 62223371 62223371 A G intronic GMEB2 NA NA NA intronic ENSG00000101216 NA NA NA NA NA 20q13.33 NA NA NA NA rs311494 0.93 0.93 0.927 0.939696 0.8887 0.999 0.9107 0.9206 0.9775 0.88 1 0.92 0.92 0.9177 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.222954 NA NA 0.902907 0.909442 NA 0.913 NA 1.290693 1531 4 151765243 151765243 G A intronic LRBA NA NA NA intronic ENSG00000198589 NA NA NA NA NA 4q31.3 NA NA NA NA rs186080 0.81 0.81 0.816 0.752995 0.9165 0.8661 0.8127 0.5582 0.6892 0.91 0.88 0.85 0.55 0.8569 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 0.88511 NA NA 0.93593 0.640263 NA 0.688 NA 1.29067 1531 19 15789034 15789034 C A intronic CYP4F12 NA NA NA intronic ENSG00000186204 NA NA NA NA NA 19p13.12 NA NA NA NA rs28416595 0.92 0.92 0.906 0.82488 0.8499 0.998 0.9049 0.646 0.8057 0.92 1 0.96 0.79 0.9292 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.173443 NA NA 0.930665 0.828225 NA 0.855 NA 1.290235 1531 9 16738307 16738307 A C intronic BNC2 NA NA NA intronic ENSG00000173068 NA NA NA NA NA 9p22.2 NA NA NA NA rs7858709 0.9 0.9 0.9 0.873203 0.9125 0.9097 0.8818 0.8979 0.7556 0.91 0.92 0.86 0.89 0.884 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 -0.033847 NA NA 0.914302 0.896732 NA 0.906 NA 1.289198 1531 6 128330249 128330249 T C intronic PTPRK NA NA NA intronic ENSG00000152894 NA NA NA NA NA 6q22.33 NA NA NA NA rs9321104 0.9 0.9 0.887 0.88758 0.9056 0.998 0.9438 0.7231 0.9376 0.91 1 0.95 0.74 0.9034 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.221621 NA NA 0.903023 0.717658 NA 0.855 NA 1.287977 1531 16 19083221 19083221 A G intronic COQ7 NA NA NA UTR5 ENSG00000167186 ENST00000566110:c.-70A>G NA NA NA NA 16p12.3 NA NA NA NA rs4782202 0.93 0.93 0.908 0.908746 0.9692 0.9653 0.9568 0.7716 0.9397 0.97 0.98 0.95 0.77 0.9475 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 0.629407 NA NA 0.963605 0.790396 NA 0.913 NA 1.2863617 1531 17 39977862 39977862 C T intronic FKBP10 NA NA NA intronic ENSG00000141756 NA NA NA NA NA 17q21.2 NA NA NA NA rs8072866 0.9 0.9 0.904 0.91853 0.8877 1 0.9366 0.8419 0.9571 0.88 1 0.91 0.82 0.9192 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.457856 NA NA 0.907558 0.86246 NA 0.942 NA 1.285542 1532 15 45408691 45408691 C G intronic DUOXA2 NA NA NA intronic ENSG00000140274 NA NA NA NA NA 15q21.1 NA NA NA NA rs2576091 0.8 0.8 0.768 0.76238 0.9254 0.9544 0.8026 0.3245 0.9601 0.93 0.95 0.85 0.39 0.8734 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 -0.218052 NA NA 0.917165 0.448699 NA 0.826 NA 1.284035 1532 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 1532 1 44386615 44386615 A G intronic ST3GAL3 NA NA NA intronic ENSG00000126091 NA NA NA NA NA 1p34.1 NA NA NA NA rs3120803 0.81 0.81 0.8 0.809105 0.9115 0.8363 0.8602 0.6407 0.8671 0.91 0.78 0.86 0.66 0.8813 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 -0.81736 NA NA 0.923936 0.70699 NA 0.826 NA 1.283264 1532 11 130064223 130064223 A G intronic ST14 NA NA NA intronic ENSG00000149418 NA NA NA NA NA 11q24.3 NA NA NA NA rs610005 0.91 0.91 0.904 0.914137 0.9235 0.9613 0.9409 0.8608 0.909 0.92 0.94 0.93 0.84 0.9067 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 -0.532813 NA NA 0.888035 0.880963 NA 0.92 NA 1.281765 1532 11 67052466 67052466 G A intronic ADRBK1 NA NA NA intronic ENSG00000173020 NA NA NA NA NA 11q13.2 NA NA NA NA rs10896164 0.71 0.71 0.696 0.6877 0.9344 0.7986 0.6182 0.2557 0.953 0.93 0.8 0.7 0.26 0.842 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 -0.753644 NA NA 0.941917 0.396347 NA 0.667 NA 1.281683 1532 20 60897071 60897071 A G intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA NA NA NA rs2274936 0.86 0.86 0.859 0.822284 0.9165 0.9385 0.8256 0.6846 0.7894 0.91 0.95 0.82 0.7 0.8744 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 -0.792523 NA NA 0.927587 0.720756 NA 0.746 NA 1.281513 1532 16 1394551 1394551 A G intronic BAIAP3 NA NA NA intronic ENSG00000007516 NA NA NA NA NA 16p13.3 NA NA NA NA rs11248872 0.95 0.95 0.959 0.953674 0.8996 0.997 0.9395 0.9879 0.9284 0.89 1 0.93 0.99 0.9199 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.599507 NA NA 0.89907 0.978854 NA 0.978 NA 1.28143 1532 1 982941 982941 T C intronic AGRN NA NA NA intronic ENSG00000188157 NA NA NA NA NA 1p36.33 NA NA NA NA rs3128102 0.82 0.82 0.793 0.79992 0.9175 0.9722 0.8991 0.4107 0.9571 0.92 0.97 0.91 0.41 0.8859 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 -1.289322 NA NA 0.915426 0.476169 NA 0.703 NA 1.281174 1532 3 150384807 150384807 T G intronic FAM194A NA NA NA intronic ENSG00000163645 NA NA NA NA NA 3q25.1 NA NA NA NA rs6440691 0.95 0.95 0.94 0.959864 0.9095 1 0.9625 0.966 0.9601 0.91 1 0.96 0.96 0.9232 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.444097 NA NA 0.888488 0.9537 NA 0.957 NA 1.278812 1532 7 76958730 76958730 A G intronic GSAP NA NA NA intronic ENSG00000186088 NA NA NA NA NA 7q11.23 NA NA NA NA rs10274222 0.95 0.95 0.941 0.969249 0.8887 1 0.9568 0.9977 0.9908 0.89 1 0.96 1 0.9303 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.005603 NA NA 0.902484 0.977676 NA 0.92 NA 1.278516 1532 12 124267638 124267638 A G intronic DNAH10 NA NA NA intronic ENSG00000197653 NA NA NA NA NA 12q24.31 NA NA NA NA rs11057354 0.95 0.95 0.958 0.963059 0.9085 0.999 0.9049 0.9939 0.9816 0.9 1 0.9 0.99 0.9133 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.080595 NA NA 0.901744 0.979573 NA 0.935 NA 1.276456 1532 2 197106759 197106759 T C intronic HECW2 NA NA NA intronic ENSG00000138411 NA NA NA NA NA 2q32.3 NA NA NA NA rs2045277 0.82 0.82 0.797 0.798323 0.9215 0.8056 0.8588 0.615 0.8691 0.94 0.81 0.87 0.61 0.8776 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 0.621839 NA NA 0.924767 0.641852 NA 0.841 NA 1.276133 1532 2 27424496 27424496 G A intronic SLC5A6 NA NA NA intronic ENSG00000138074 NA NA NA NA NA 2p23.3 NA NA NA NA rs1006898 0.84 0.84 0.833 0.797724 0.9155 0.998 0.8934 0.4349 0.8926 0.93 1 0.88 0.49 0.8856 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.25137 NA NA 0.922907 0.492964 NA 0.703 NA 1.275993 1532 16 57171233 57171233 C G intronic CPNE2 NA NA NA intronic ENSG00000140848 NA NA NA NA NA 16q13 NA NA NA NA rs2305693 0.92 0.92 0.918 0.92512 0.9076 0.9742 0.9452 0.8835 0.9346 0.91 0.97 0.94 0.88 0.91 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 -0.287252 NA NA 0.90686 0.877616 NA 0.891 NA 1.27554 1532 15 56139153 56139153 T C intronic NEDD4 NA NA NA intronic ENSG00000069869 NA NA NA NA NA 15q21.3 NA NA NA NA rs2288346 0.9 0.9 0.913 0.890375 0.9155 0.9653 0.7997 0.8343 0.9274 0.91 0.96 0.82 0.85 0.896 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 -0.601129 NA NA 0.913109 0.828011 NA 0.928 NA 1.275391 1532 15 56719797 56719797 G T intronic TEX9 NA NA NA intronic ENSG00000151575 NA NA NA NA NA 15q21.3 NA NA NA NA rs795785 0.94 0.94 0.947 0.946685 0.9095 0.9266 0.9337 0.9917 0.954 0.91 0.93 0.94 0.99 0.9218 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 -1.520903 NA NA 0.893371 0.96969 NA 0.891 NA 1.275329 1532 16 65025849 65025849 A G intronic CDH11 NA NA NA intronic ENSG00000140937 NA NA NA NA NA 16q21 NA NA NA NA rs35194 0.92 0.92 0.926 0.925919 0.9046 0.999 0.8674 0.8911 0.9611 0.91 1 0.86 0.89 0.9144 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212713 NA NA 0.90593 0.888107 NA 0.812 NA 1.27507 1533 16 65025658 65025658 T C intronic CDH11 NA NA NA intronic ENSG00000140937 NA NA NA NA NA 16q21 NA NA NA NA rs35196 0.92 0.92 0.928 0.926917 0.9046 0.999 0.8689 0.8941 0.9611 0.91 1 0.86 0.89 0.915 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.923427 NA NA 0.90593 0.894689 NA 0.812 NA 1.27447 1533 8 3201012 3201012 C T intronic CSMD1 NA NA NA intronic ENSG00000183117 NA NA NA NA NA 8p23.2 NA NA NA NA rs156075 0.96 0.96 0.143 0.86222 0.9056 0.997 0.915 0.6248 0.9622 1 1 0.98 0.84 0.9111 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.139506 NA NA 0.90978 0.752151 NA 0.826 NA 1.27352 1533 21 47986633 47986633 C A intronic DIP2A NA NA NA intronic ENSG00000160305 NA NA NA NA NA 21q22.3 NA NA NA NA rs3819044 0.91 0.91 0.909 0.909944 0.9125 0.9008 0.9294 0.916 0.8947 0.91 0.89 0.92 0.94 0.9056 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 -0.698894 NA NA 0.908615 0.926969 NA 0.935 NA 1.273285 1533 5 1232491 1232491 G C intronic SLC6A18 NA NA NA intronic ENSG00000164363 NA NA NA NA NA 5p15.33 NA NA NA NA rs4975623 0.84 0.84 0.865 0.827875 0.9205 0.5853 0.8487 0.947 0.8067 0.91 0.64 0.89 0.93 0.8851 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 -1.0339 NA NA 0.921126 0.946746 NA 0.109 NA 1.273274 1533 8 120602908 120602908 C T intronic ENPP2 NA NA NA intronic ENSG00000136960 NA NA NA NA NA 8q24.12 NA NA NA NA rs935359 0.94 0.94 0.946 0.963259 0.8817 1 0.9409 0.997 0.9796 0.88 1 0.91 1 0.9337 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.676954 NA NA 0.912244 0.981777 NA 0.833 NA 1.272356 1533 17 29670190 29670190 C G intronic NF1 NA NA NA intronic ENSG00000196712 NA NA NA NA NA 17q11.2 NA NA NA NA rs7405740 0.88 0.88 0.887 0.873802 0.9026 0.9028 0.8775 0.7663 0.9571 0.92 0.89 0.88 0.8 0.9069 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 0.259793 NA NA 0.919148 0.812727 NA 0.913 NA 1.271352 1533 9 132636031 132636031 A G intronic USP20 NA NA NA intronic ENSG00000136878 NA NA NA NA NA 9q34.11 NA NA NA NA rs4332226 0.88 0.88 0.832 0.861621 0.9195 0.997 0.9179 0.649 0.91 0.92 0.99 0.9 0.66 0.9075 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 0.098689 NA NA 0.903394 0.702844 NA NA NA 1.269606 1533 9 132636033 132636033 T C intronic USP20 NA NA NA intronic ENSG00000136878 NA NA NA NA NA 9q34.11 NA NA NA NA rs4415421 0.88 0.88 0.838 0.861821 0.9195 0.997 0.9179 0.6498 0.91 0.92 0.99 0.9 0.67 0.9077 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 -0.830895 NA NA 0.903486 0.704405 NA NA NA 1.269314 1533 15 74710593 74710593 C T intronic SEMA7A NA NA NA intronic ENSG00000138623 NA NA NA NA NA 15q24.1 NA NA NA NA rs28362912 0.81 0.81 0.833 0.807508 0.9294 0.5853 0.6556 0.9932 0.7679 0.93 0.54 0.75 0.99 0.8599 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 -0.535766 NA NA 0.943203 0.984069 NA 0.812 NA 1.267497 1533 6 33653111 33653111 T C intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs942637 0.92 0.92 0.922 0.913538 0.9195 0.9881 0.9395 0.829 0.9264 0.92 0.99 0.93 0.82 0.917 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 -0.560237 NA NA 0.897093 0.85429 NA 0.848 NA 1.266407 1533 5 65073224 65073224 C A intronic NLN NA NA NA intronic ENSG00000123213 NA NA NA NA NA 5q12.3 NA NA NA NA rs34979 0.93 0.93 0.925 0.9373 0.9115 0.9058 0.9164 0.9955 0.9325 0.91 0.91 0.92 1 0.9187 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.703475 NA NA 0.904302 0.980254 NA 0.949 NA 1.265498 1533 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 1533 10 108439103 108439103 A C intronic SORCS1 NA NA NA intronic ENSG00000108018 NA NA NA NA NA 10q25.1 NA NA NA NA rs821929 0.78 0.78 0.78 0.775359 0.9324 0.6498 0.83 0.7005 0.8057 0.93 0.64 0.81 0.67 0.8698 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 -0.730643 NA NA 0.932791 0.739219 NA 0.833 NA 1.265009 1534 17 76451921 76451921 A G intronic DNAH17 NA NA NA intronic ENSG00000187775 NA NA NA NA NA 17q25.3 NA NA NA NA rs8069561 0.95 0.95 0.943 0.935503 0.9195 0.9911 0.9452 0.9107 0.9213 0.91 0.99 0.96 0.94 0.9125 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 -0.647539 NA NA 0.905581 0.903768 NA 0.935 NA 1.262419 1534 17 40049473 40049473 A G intronic ACLY NA NA NA intronic ENSG00000131473 NA NA NA NA NA 17q21.2 NA NA NA NA rs4796736 0.9 0.9 0.892 0.904353 0.8986 1 0.9337 0.7678 0.9755 0.89 1 0.91 0.77 0.9203 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.889882 NA NA 0.918953 0.790059 NA 0.942 NA 1.262147 1534 3 2777622 2777622 A G intronic CNTN4 NA NA NA intronic ENSG00000144619 NA NA NA NA NA 3p26.3 NA NA NA NA rs1554198 0.81 0.81 0.795 0.761781 0.9205 0.8631 0.9265 0.4191 0.8405 0.92 0.88 0.9 0.49 0.8832 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 0.537027 NA NA 0.934957 0.517694 NA 0.833 NA 1.261343 1534 22 25716068 25716068 C G ncRNA_exonic IGLL3P NA NA NA downstream ENSG00000206066 NA NA NA NA NA 22q11.23 NA NA NA NA rs133162 0.97 0.97 0.97 0.986621 0.9622 0.9911 0.9928 0.9909 0.9969 0.95 0.98 1 0.98 0.9736 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.185079 NA NA 0.970691 0.988409 NA 0.993 NA 1.2601756 1534 9 132618578 132618578 T C intronic USP20 NA NA NA intronic ENSG00000136878 NA NA NA NA NA 9q34.11 NA NA NA NA rs4836674 0.9 0.9 0.879 0.884385 0.9215 0.997 0.9164 0.7337 0.911 0.92 0.99 0.9 0.74 0.9152 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 -0.545586 NA NA 0.903767 0.781399 NA 0.884 NA 1.259533 1534 9 132623917 132623917 C A intronic USP20 NA NA NA intronic ENSG00000136878 NA NA NA NA NA 9q34.11 NA NA NA NA rs10124224 0.9 0.9 0.883 0.884385 0.9215 0.997 0.9164 0.7337 0.911 0.92 0.99 0.9 0.74 0.9155 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 -0.221896 NA NA 0.904796 0.78223 NA 0.884 NA 1.258204 1534 5 1078898 1078898 A G intronic SLC12A7 NA NA NA intronic ENSG00000113504 NA NA NA NA NA 5p15.33 NA NA NA NA rs4975564 0.8 0.8 0.777 0.769768 0.9195 0.9395 0.9035 0.3699 0.8865 0.92 0.95 0.91 0.35 0.8891 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 -0.4035 NA NA 0.93331 0.47475 NA 0.652 NA 1.25809 1534 8 71510093 71510093 A G intronic TRAM1 NA NA NA intronic ENSG00000067167 NA NA NA NA NA 8q13.3 NA NA NA NA rs268626 0.82 0.82 0.866 0.82488 0.9344 0.6925 0.6902 0.8858 0.862 0.94 0.69 0.71 0.88 0.8728 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 0.150152 NA NA 0.935 0.891058 ID=COSN168344;OCCURENCE=1(large_intestine) 0.855 NA 1.2578 1534 1 1289911 1289911 G A intronic MXRA8 NA NA NA intronic ENSG00000162576 NA NA NA NA NA 1p36.33 NA NA NA NA rs4970365 0.84 0.84 0.851 0.828474 0.9215 0.8333 0.8934 0.7148 0.8354 0.93 0.83 0.87 0.71 0.885 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 0.569627 NA NA 0.937266 0.788848 NA 0.783 NA 1.256234 1534 17 38140524 38140524 T C intronic PSMD3 NA NA NA intronic ENSG00000108344 NA NA NA NA NA 17q21.1 NA NA NA NA rs3816471 0.9 0.9 0.908 0.886781 0.9105 0.8819 0.9035 0.9448 0.7771 0.9 0.86 0.92 0.93 0.9053 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 1.365249 1.365249 NA 0.928023 0.934635 NA 0.971 NA 1.256177 1535 11 197557 197557 A G intronic ODF3 NA NA NA intronic ENSG00000177947,ENSG00000177951 NA NA NA NA NA 11p15.5 NA NA NA NA rs7103852 0.85 0.85 0.826 0.844848 0.9175 0.9921 0.9049 0.553 0.9703 0.91 0.99 0.9 0.57 0.905 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 -1.194765 NA NA 0.922907 0.60059 NA 0.768 NA 1.254593 1535 17 40025285 40025285 A G intronic ACLY NA NA NA intronic ENSG00000131473 NA NA NA NA NA 17q21.2 NA NA NA NA rs9914829 0.91 0.91 0.914 0.923522 0.8986 1 0.9366 0.8389 0.9755 0.89 1 0.91 0.83 0.928 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.521198 NA NA 0.918953 0.857921 NA 0.957 NA 1.254447 1535 11 4133317 4133317 C A intronic RRM1 NA NA NA intronic ENSG00000167325 NA NA NA NA NA 11p15.4 NA NA NA NA rs56336381 0.84 0.84 0.851 0.832668 0.9294 0.7669 0.8256 0.7958 0.8558 0.93 0.78 0.84 0.78 0.8854 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 0.104115 NA NA 0.930782 0.821899 NA 0.826 NA 1.254418 1535 6 43414216 43414216 T C intronic ABCC10 NA NA NA intronic ENSG00000124574 NA NA NA NA NA 6p21.1 NA NA NA NA rs1214746 0.95 0.95 0.952 0.963658 0.8887 0.999 0.9207 0.9992 0.9867 0.89 1 0.91 1 0.9388 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.254868 NA NA 0.918469 0.987057 NA 0.949 NA 1.254031 1535 19 8987133 8987133 T C intronic MUC16 NA NA NA intronic ENSG00000181143 NA NA NA NA NA 19p13.2 NA NA NA NA rs3764555 0.9 0.9 0.905 0.904553 0.9085 0.8869 0.8386 0.9259 0.9366 0.89 0.91 0.86 0.93 0.9098 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 0.208924 NA NA 0.928674 0.934088 NA 0.899 NA 1.253026 1535 14 39784965 39784965 G T intronic CTAGE5 NA NA NA intronic ENSG00000150527,ENSG00000258941 NA NA NA NA NA 14q21.1 NA NA NA NA rs10150863 0.87 0.87 0.849 0.83746 0.9284 0.9325 0.7954 0.6997 0.862 0.92 0.96 0.86 0.69 0.895 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 0.621347 NA NA 0.923705 0.715883 NA 0.797 NA 1.252895 1535 19 8201051 8201051 T C intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs8112525 0.88 0.88 0.88 0.900759 0.9165 0.7599 0.9308 0.9622 0.9254 0.92 0.76 0.94 0.93 0.9116 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 -0.746207 NA NA 0.919302 0.960263 NA 0.913 NA 1.252598 1535 11 45877529 45877529 A G intronic CRY2 NA NA NA intronic ENSG00000121671 NA NA NA NA NA 11p11.2 NA NA NA NA rs2292913 0.78 0.78 0.773 0.794928 0.9334 0.4831 0.879 0.8215 0.8783 0.94 0.45 0.9 0.82 0.8785 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 0.990684 NA NA 0.938707 0.851112 NA 0.862 NA 1.249393 1535 21 40642189 40642189 C T intronic BRWD1 NA NA NA intronic ENSG00000185658 NA NA NA NA NA 21q22.2 NA NA NA NA rs6517532 0.84 0.84 0.831 0.851038 0.9195 0.6081 0.9308 0.972 0.8108 0.92 0.59 0.94 0.96 0.8973 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 -1.628706 NA NA 0.933953 0.970041 NA 0.826 NA 1.249247 1535 1 12418700 12418700 T C intronic VPS13D NA NA NA intronic ENSG00000048707 NA NA NA NA NA 1p36.22 NA NA NA NA rs10864552 0.96 0.96 0.952 0.964058 0.9165 0.999 0.9625 0.9962 0.9346 0.91 1 0.95 1 0.931 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.184286 NA NA 0.903953 0.978212 NA 0.906 NA 1.248547 1535 19 4024020 4024020 G A intronic PIAS4 NA NA NA intronic ENSG00000105229 NA NA NA NA NA 19p13.3 NA NA NA NA rs2028827 0.89 0.89 0.876 0.83127 0.9284 0.9534 0.928 0.6218 0.82 0.94 0.97 0.93 0.72 0.896 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 -0.927662 NA NA 0.927791 0.682932 NA 0.841 NA 1.247809 1535 6 162622304 162622304 A G intronic PARK2 NA NA NA intronic ENSG00000185345 NA NA NA NA NA 6q26 NA NA NA NA rs4709583 0.95 0.95 0.943 0.950479 0.8986 0.9881 0.951 0.9947 0.9049 0.91 0.98 0.94 0.99 0.9329 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 0.406533 NA NA 0.921279 0.977531 NA 0.913 NA 1.247221 1535 3 119900260 119900260 T C intronic GPR156 NA NA NA intronic ENSG00000175697 NA NA NA NA NA 3q13.33 NA NA NA NA rs1488764 0.92 0.92 0.916 0.902157 0.9284 0.9306 0.9265 0.8812 0.8569 0.92 0.94 0.91 0.88 0.913 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 -0.015844 NA NA 0.912949 0.882065 NA 0.913 NA 1.245651 1535 1 117631391 117631391 T C intronic TTF2 NA NA NA intronic ENSG00000116830 NA NA NA NA NA 1p13.1 NA NA NA NA rs1555792 0.9 0.9 0.885 0.908546 0.9294 1 0.9481 0.7496 0.9796 0.92 1 0.96 0.71 0.9149 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.42071 NA NA 0.910349 0.777803 NA 0.913 NA 1.245351 1535 16 1818153 1818153 T C intronic MAPK8IP3 NA NA NA intronic ENSG00000138834 NA NA NA NA NA 16p13.3 NA NA NA NA rs2437734 0.85 0.85 0.784 0.920727 0.9344 0.9246 0.9654 0.8941 0.907 0.83 0.9 0.9 0.8 0.9321 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 -0.681235 NA NA 0.888464 0.835459 NA 0.087 NA 1.245036 1536 1 45796269 45796269 G C intronic MUTYH NA NA NA intronic ENSG00000132781 NA NA NA NA NA 1p34.1 NA NA NA NA rs3219493 0.93 0.93 0.922 0.935304 0.9205 0.9137 0.9352 0.9705 0.9254 0.93 0.89 0.92 0.97 0.9245 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 0.014158 NA NA 0.911279 0.955495 NA 0.949 NA 1.243721 1536 6 46832741 46832741 T C intronic GPR116 NA NA NA intronic ENSG00000069122 NA NA NA NA NA 6p12.3 NA NA NA NA rs529201 0.86 0.86 0.836 0.840655 0.9225 0.9921 0.9078 0.5537 0.9407 0.93 0.99 0.9 0.59 0.9031 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 0.519944 NA NA 0.931163 0.589424 NA 0.746 NA 1.243237 1536 1 3747603 3747603 T C intronic CEP104 NA NA NA intronic ENSG00000116198 NA NA NA NA NA 1p36.32 NA NA NA NA rs6413779 0.8 0.8 0.804 0.789537 0.9443 0.4792 0.8689 0.9198 0.7178 0.94 0.49 0.85 0.91 0.8587 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 -0.257503 NA NA 0.953837 0.911711 NA 0.848 NA 1.243163 1536 6 46823695 46823695 G A intronic GPR116 NA NA NA intronic ENSG00000069122 NA NA NA NA NA 6p12.3 NA NA NA NA rs657340 0.86 0.86 0.848 0.841454 0.9225 0.9921 0.9078 0.5567 0.9407 0.93 0.99 0.9 0.59 0.9038 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 0.619321 NA NA 0.931628 0.597367 NA 0.71 NA 1.242072 1536 1 45798555 45798555 T C intronic MUTYH NA NA NA intronic ENSG00000132781 NA NA NA NA NA 1p34.1 NA NA NA NA rs3219487 0.93 0.93 0.93 0.937101 0.9205 0.9137 0.9366 0.9766 0.9254 0.93 0.89 0.93 0.98 0.9255 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 -2.276105 NA NA 0.911977 0.965956 NA 0.957 NA 1.242023 1536 14 64537657 64537657 G A intronic SYNE2 NA NA NA intronic ENSG00000054654 NA NA NA NA NA 14q23.2 NA NA NA NA rs1255964 0.89 0.89 0.875 0.868211 0.9145 0.8532 0.9179 0.857 0.816 0.91 0.88 0.91 0.85 0.9103 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 0.2931 NA NA 0.933203 0.869328 NA 0.913 NA 1.241997 1536 2 28761257 28761257 A G intronic PLB1 NA NA NA intronic ENSG00000163803 NA NA NA NA NA 2p23.2 NA NA NA NA rs7589169 0.86 0.86 0.842 0.852236 0.9264 0.9931 0.7839 0.6581 0.9417 0.93 0.99 0.82 0.65 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 -0.596074 NA NA 0.928937 0.720708 NA 0.79 NA 1.241963 1536 8 3165814 3165814 A C intronic CSMD1 NA NA NA intronic ENSG00000183117 NA NA NA NA NA 8p23.2 NA NA NA NA rs1393843 0.82 0.82 0.824 0.811102 0.9274 0.6161 0.8329 0.8578 0.8139 0.93 0.61 0.88 0.86 0.8907 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 -0.042878 NA NA 0.940323 0.883693 NA 0.833 NA 1.241577 1536 6 108042213 108042213 G A intronic SCML4 NA NA NA intronic ENSG00000146285 NA NA NA NA NA 6q21 NA NA NA NA rs846977 0.92 0.92 0.927 0.926917 0.9264 0.9167 0.9337 0.9312 0.9274 0.93 0.9 0.93 0.93 0.923 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 0.117299 NA NA 0.91 0.925329 NA 0.957 NA 1.2406 1536 9 71831398 71831398 T C intronic TJP2 NA NA NA intronic ENSG00000119139 NA NA NA NA NA 9q21.11 NA NA NA NA rs2498417 0.9 0.9 0.906 0.894169 0.9165 0.9236 0.8948 0.8404 0.9131 0.91 0.93 0.88 0.89 0.9209 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 -0.27928 NA NA 0.922093 0.868134 NA 0.942 NA 1.240507 1536 4 89022362 89022362 C T intronic ABCG2 NA NA NA intronic ENSG00000118777 NA NA NA NA NA 4q22.1 NA NA NA NA rs2231153 0.72 0.72 0.696 0.672324 0.9453 0.7659 0.7291 0.2451 0.8323 0.95 0.78 0.77 0.27 0.8561 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 0.235017 NA NA 0.958721 0.356559 NA 0.71 NA 1.239879 1536 11 103029373 103029373 G A intronic DYNC2H1 NA NA NA intronic ENSG00000187240 NA NA NA NA NA 11q22.3 NA NA NA NA rs688094 0.94 0.94 0.93 0.932308 0.9324 0.8859 0.9553 0.9955 0.8783 0.94 0.87 0.96 1 0.9049 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.031338 NA NA 0.924004 0.984969 NA 0.906 NA 1.238696 1536 10 114186624 114186624 G A intronic ACSL5 NA NA NA intronic ENSG00000197142 NA NA NA NA NA 10q25.2 NA NA NA NA rs2256368 0.95 0.95 0.965 0.963858 0.9155 0.9871 0.964 0.9803 0.9673 0.9 0.99 0.96 0.98 0.9308 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 0.16155 NA NA 0.915233 0.970495 NA 0.993 NA 1.238467 1536 1 3775454 3775454 C G intronic DFFB NA NA NA intronic ENSG00000169598 NA NA NA NA NA 1p36.32 NA NA NA NA rs4376673 0.82 0.82 0.833 0.813299 0.9433 0.5 0.8703 0.9697 0.7505 0.94 0.52 0.85 0.98 0.867 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 -0.554867 NA NA 0.951395 0.960281 NA 0.899 NA 1.238305 1536 14 21836400 21836400 T C intronic SUPT16H NA NA NA intronic ENSG00000092201 NA NA NA NA NA 14q11.2 NA NA NA NA rs8008670 0.88 0.88 0.88 0.866214 0.9294 0.8879 0.7997 0.795 0.9223 0.92 0.9 0.84 0.81 0.8977 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 0.964935 NA NA 0.936047 0.813436 NA 0.826 NA 1.236853 1536 14 105930923 105930923 G A intronic MTA1 NA NA NA intronic ENSG00000182979 NA NA NA NA NA 14q32.33 NA NA NA NA rs11845995 0.78 0.78 0.758 0.700879 0.8907 0.8879 0.8545 0.1543 0.9427 0.97 0.99 0.9 0.17 0.899 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 -1.520312 NA NA 0.973721 0.299773 NA 0.688 NA 1.236579 1536 16 31371193 31371193 C G intronic ITGAX NA NA NA intronic ENSG00000140678 NA NA NA NA NA 16p11.2 NA NA NA NA rs4264407 0.94 0.94 0.94 0.946086 0.9036 0.9871 0.9323 0.9312 0.9775 0.9 1 0.92 0.93 0.931 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.00074 NA NA 0.92907 0.919208 NA 0.949 NA 1.23633 1536 11 88338165 88338165 G A intronic GRM5 NA NA NA intronic ENSG00000168959 NA NA NA NA NA 11q14.3 NA NA NA NA rs3816649 0.86 0.86 0.85 0.848642 0.9354 0.9266 0.7939 0.702 0.9162 0.94 0.91 0.81 0.69 0.8958 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 1.136857 NA NA 0.933589 0.726488 NA 0.862 NA 1.235211 1537 22 24125565 24125565 G A intronic MMP11 NA NA NA intronic ENSG00000099953,ENSG00000267954 NA NA NA NA NA 22q11.23 NA NA NA NA rs2877173 0.88 0.88 0.88 0.863219 0.9423 0.7312 0.8934 0.9327 0.8027 0.95 0.74 0.88 0.94 0.8956 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 0.34283 NA NA 0.928953 0.934862 NA 0.928 NA 1.233147 1537 17 39636044 39636044 G A intronic KRT35 NA NA NA intronic ENSG00000197079 NA NA NA NA NA 17q21.2 NA NA NA NA rs2011243 0.94 0.94 0.924 0.949081 0.9264 0.9494 0.9611 0.9425 0.9724 0.92 0.95 0.96 0.94 0.93 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 0.060837 NA NA 0.910677 0.946567 NA 0.913 NA 1.232923 1537 11 8115762 8115762 C G intronic TUB NA NA NA intronic ENSG00000166402 NA NA NA NA NA 11p15.4 NA NA NA NA rs7396690 0.78 0.78 0.762 0.773163 0.9364 0.8016 0.879 0.4259 0.9703 0.94 0.79 0.87 0.44 0.8878 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 0.907634 NA NA 0.943087 0.494321 NA 0.739 NA 1.232713 1537 15 73545732 73545732 T C intronic NEO1 NA NA NA intronic ENSG00000067141 NA NA NA NA NA 15q24.1 NA NA NA NA rs2623989 0.85 0.85 0.776 0.817292 0.9394 0.8978 0.9496 0.562 0.8599 0.94 0.9 0.94 0.56 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 0.343899 NA NA 0.93286 0.620792 NA 0.63 NA 1.23234 1537 1 981087 981087 A G intronic AGRN NA NA NA intronic ENSG00000188157 NA NA NA NA NA 1p36.33 NA NA NA NA rs3128098 0.87 0.87 0.854 0.869409 0.9304 0.999 0.9179 0.6225 0.9724 0.93 1 0.92 0.6 0.9128 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.097028 NA NA 0.926977 0.646845 NA 0.761 NA 1.229823 1537 14 31828076 31828076 A C intronic HEATR5A NA NA NA intronic ENSG00000129493,ENSG00000203546 NA NA NA NA NA 14q12 NA NA NA NA rs942907 0.83 0.83 0.837 0.820288 0.9523 0.7956 0.7565 0.702 0.9151 0.95 0.82 0.76 0.73 0.8878 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 -1.278326 NA NA 0.931557 0.728385 NA 0.884 NA 1.228343 1537 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 1537 2 27428877 27428877 C G intronic SLC5A6 NA NA NA intronic ENSG00000138074 NA NA NA NA NA 2p23.3 NA NA NA NA rs1275527 0.85 0.85 0.833 0.811701 0.9344 0.999 0.9006 0.4349 0.9387 0.95 1 0.89 0.49 0.9025 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.856149 NA NA 0.934884 0.49478 NA 0.717 NA 1.228216 1537 1 22211222 22211222 T C intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs4654994 0.91 0.91 0.92 0.896366 0.9254 0.9583 0.9092 0.826 0.8885 0.92 0.96 0.91 0.84 0.9126 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 -1.435865 NA NA 0.934808 0.851296 NA 0.913 NA 1.227192 1537 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 1537 13 78183167 78183167 G C intronic SCEL NA NA NA intronic ENSG00000136155 NA NA NA NA NA 13q22.3 NA NA NA NA rs912293 0.94 0.94 0.942 0.947085 0.9205 0.9306 0.9409 0.972 0.9622 0.92 0.92 0.93 0.98 0.9324 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 1.137975 NA NA 0.921365 0.955272 NA 0.877 NA 1.225735 1537 15 86278174 86278174 C T intronic AKAP13 NA NA NA intronic ENSG00000170776 NA NA NA NA NA 15q25.3 NA NA NA NA rs2241267 0.93 0.93 NA 0.923323 0.9235 0.9772 0.9424 0.8782 0.9151 0.93 0.97 0.94 0.86 0.9291 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 -0.099257 NA NA 0.922191 0.898728 NA 0.906 NA 1.225209 1538 10 3162033 3162033 T C intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs6602025 0.9 0.9 0.892 0.890375 0.9354 0.8839 0.928 0.8434 0.8875 0.94 0.9 0.92 0.86 0.9142 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 -0.077924 NA NA 0.926512 0.874716 NA 0.899 NA 1.223888 1538 7 37901581 37901581 G A intronic NME8 NA NA NA intronic ENSG00000086288,ENSG00000086289 NA NA NA NA NA 7p14.1 NA NA NA NA rs2249451 0.86 0.86 0.878 0.836861 0.9453 0.6508 0.8804 0.916 0.7791 0.94 0.68 0.86 0.92 0.8885 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 1.016455 NA NA 0.94407 0.916478 NA 0.877 NA 1.22213 1538 6 70812123 70812123 A G intronic COL19A1 NA NA NA intronic ENSG00000082293 NA NA NA NA NA 6q13 NA NA NA NA rs7772672 0.84 0.84 0.843 0.845647 0.9563 0.5486 0.8256 0.9909 0.8558 0.95 0.55 0.84 0.98 0.8846 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 0.96492 NA NA 0.937791 0.981389 NA 0.841 NA 1.221309 1538 20 62202240 62202240 A G intronic HELZ2 NA NA NA intronic ENSG00000130589 NA NA NA NA NA 20q13.33 NA NA NA NA rs402211 0.95 0.95 0.949 0.96885 0.9095 0.999 0.9452 0.9879 0.9898 0.9 1 0.94 0.98 0.9442 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.741394 NA NA 0.926142 0.980594 NA 0.971 NA 1.220158 1538 8 139626176 139626176 C G intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs7000261 0.87 0.87 0.878 0.858227 0.9553 0.8115 0.8228 0.8321 0.8671 0.95 0.79 0.85 0.85 0.8892 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 -1.094128 NA NA 0.935581 0.840899 NA 0.812 NA 1.219919 1538 12 97639144 97639144 A G intergenic NEDD1,RMST dist=291675;dist=219655 NA NA intergenic ENSG00000258131,ENSG00000257920 dist=59757;dist=27326 NA NA NA NA 12q23.1 NA NA NA NA rs1012315 0.63 0.63 0.636 0.583866 0.7127 0.6587 0.6801 0.4191 0.5286 0.71 0.67 0.67 0.44 0.6749 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 0.464212 NA NA 0.726268 0.493151 NA 0.645 NA 1.2194654 1538 20 60831300 60831300 G A intronic OSBPL2 NA NA NA intronic ENSG00000130703 NA NA NA NA NA 20q13.33 NA NA NA NA rs6089706 0.89 0.89 0.893 0.846446 0.9334 0.9911 0.8977 0.6611 0.8221 0.94 0.99 0.89 0.68 0.898 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 -0.099601 NA NA 0.949884 0.706764 NA 0.826 NA 1.218716 1538 2 74720002 74720002 C G intronic TTC31 NA NA NA UTR3 ENSG00000115282 ENST00000410003:c.*642C>G,ENST00000449459:c.*1593C>G NA NA NA NA 2p13.1 NA NA NA NA rs4853026 0.99 0.99 0.991 0.994609 0.9841 1 0.9914 0.9985 0.9969 0.98 1 0.99 1 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 -0.324326 NA NA 0.979972 0.99742 NA 0.986 NA 1.2177947 1538 3 172520818 172520818 G C intronic ECT2 NA NA NA intronic ENSG00000114346 NA NA NA NA NA 3q26.31 NA NA NA NA rs7644191 0.87 0.87 0.864 0.836062 0.9414 0.8522 0.9222 0.7133 0.816 0.94 0.87 0.93 0.71 0.9024 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 0.332761 NA NA 0.938488 0.769632 NA 0.819 NA 1.217712 1538 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 1538 10 116068176 116068176 A G intronic AFAP1L2 NA NA NA intronic ENSG00000169129 NA NA NA NA NA 10q25.3 NA NA NA NA rs581327 0.92 0.92 0.914 0.904353 0.9344 0.9802 0.9438 0.8154 0.8875 0.93 0.98 0.94 0.84 0.9254 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 -0.976186 NA NA 0.923256 0.849069 NA 0.928 NA 1.216944 1538 11 71734211 71734211 T C intronic NUMA1 NA NA NA intronic ENSG00000137497 NA NA NA NA NA 11q13.4 NA NA NA NA rs2298457 0.78 0.78 0.829 0.826877 0.9404 0.7758 0.8012 0.7973 0.8211 0.88 0.72 0.78 0.69 0.8961 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 4.498047 4.498047 NA 0.947123 0.818409 NA 0.79 NA 1.216377 1538 14 21930596 21930596 G A intronic RAB2B NA NA NA intronic ENSG00000129472 NA NA NA NA NA 14q11.2 NA NA NA NA rs10143000 0.91 0.91 0.941 0.920128 0.9334 0.8829 0.8055 0.9939 0.9264 0.93 0.88 0.85 0.99 0.9124 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 0.77826 NA NA 0.938372 0.985928 NA 0.899 NA 1.215828 1538 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 1538 17 39659183 39659183 G A intronic KRT13 NA NA NA intronic ENSG00000171401 NA NA NA NA NA 17q21.2 NA NA NA NA rs4796698 0.83 0.83 0.809 0.79992 0.9364 0.9692 0.8991 0.4251 0.9213 0.94 0.97 0.89 0.43 0.906 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 -0.680705 NA NA 0.942558 0.544031 NA 0.804 NA 1.215042 1539 12 6909388 6909388 A G intronic CD4 NA NA NA intronic ENSG00000010610 NA NA NA NA NA 12p13.31 NA NA NA NA rs2365568 0.96 0.96 0.968 0.958666 0.9374 1 0.8199 0.9955 0.9867 0.95 1 0.84 0.99 0.9267 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.799671 2.799671 NA 0.92186 0.983886 NA 0.971 NA 1.21404 1539 6 135763866 135763866 G A intronic AHI1 NA NA NA intronic ENSG00000135541 NA NA NA NA NA 6q23.3 NA NA NA NA rs2757645 0.85 0.85 0.81 0.822883 0.9443 0.9663 0.8905 0.4985 0.9407 0.95 0.97 0.91 0.5 0.9106 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 1.211365 NA NA 0.932792 0.565943 NA 0.848 NA 1.212308 1539 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 1539 14 39620936 39620936 C T intronic TRAPPC6B NA NA NA intronic ENSG00000182400 NA NA NA NA NA 14q21.1 NA NA NA NA rs8003807 0.93 0.93 0.949 0.903355 0.9354 0.9435 0.817 0.9334 0.8497 0.93 0.96 0.88 0.93 0.9156 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 1.189243 NA NA 0.939376 0.93574 NA 0.957 NA 1.209624 1539 5 79743821 79743821 T A intronic ZFYVE16 NA NA NA intronic ENSG00000039319 NA NA NA NA NA 5q14.1 NA NA NA NA rs2251759 0.88 0.88 0.853 0.853435 0.9334 0.9196 0.9294 0.6944 0.864 0.93 0.93 0.94 0.69 0.9142 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 -2.28135 NA NA 0.943161 0.728985 NA 0.862 NA 1.209239 1539 5 176963349 176963349 G A intronic FAM193B NA NA NA intronic ENSG00000146067 NA NA NA NA NA 5q35.3 NA NA NA NA rs335460 0.8 0.8 0.771 0.790335 0.9473 0.8333 0.8847 0.5242 0.8773 0.94 0.8 0.91 0.52 0.8963 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 -0.337407 NA NA 0.947388 0.620707 NA 0.826 NA 1.209012 1539 17 2573652 2573652 C T intronic PAFAH1B1 NA NA NA intronic ENSG00000007168 NA NA NA NA NA 17p13.3 NA NA NA NA rs3213696 0.91 0.91 0.894 0.892372 0.9483 0.9335 0.9236 0.789 0.91 0.95 0.91 0.93 0.83 0.9149 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 0.602415 NA NA 0.930698 0.802542 NA 0.87 NA 1.206102 1539 17 39659529 39659529 T C intronic KRT13 NA NA NA intronic ENSG00000171401 NA NA NA NA NA 17q21.2 NA NA NA NA rs7211835 0.84 0.84 0.811 0.821086 0.9364 0.9702 0.9049 0.4992 0.9243 0.94 0.97 0.9 0.48 0.9139 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 0.101619 NA NA 0.943605 0.618475 NA 0.812 NA 1.206095 1539 9 134361581 134361581 T A intronic PRRC2B NA NA NA intronic ENSG00000130723 NA NA NA NA NA 9q34.13 NA NA NA NA rs10793875 0.87 0.87 0.875 0.878195 0.9304 0.9405 0.8285 0.7436 0.9775 0.93 0.94 0.86 0.72 0.9209 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 0.001982 NA NA 0.9427 0.775334 NA 0.725 NA 1.206 1540 1 22310662 22310662 G T intronic CELA3B NA NA NA intronic ENSG00000219073 NA NA NA NA NA 1p36.12 NA NA NA NA rs6426735 0.83 0.83 0.806 0.840455 0.9423 0.754 0.9251 0.7095 0.9417 0.94 0.71 0.94 0.72 0.9099 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 0.052406 NA NA 0.942907 0.753972 NA 0.819 NA 1.204893 1540 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 1540 2 86305123 86305123 T C intronic POLR1A NA NA NA intronic ENSG00000068654 NA NA NA NA NA 2p11.2 NA NA NA NA rs2288117 0.9 0.9 0.897 0.894768 0.9344 0.9792 0.8963 0.7829 0.9172 0.93 0.98 0.91 0.75 0.9233 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 0.200165 NA NA 0.937668 0.793348 NA 0.862 NA 1.204632 1540 18 21511172 21511172 G C intronic LAMA3 NA NA NA UTR3 ENSG00000053747 ENST00000588164:c.*3G>C NA NA NA NA 18q11.2 NA NA NA NA rs1258107 0.97 0.97 0.964 0.948882 0.996 0.997 0.9784 0.8744 0.9305 1 1 0.97 0.88 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 -1.099051 NA NA 0.993023 0.897867 NA 0.957 NA 1.2044437 1540 2 228204982 228204982 C T intronic MFF NA NA NA intronic ENSG00000168958 NA NA NA NA NA 2q36.3 NA NA NA NA rs4442987 0.85 0.85 0.844 0.839657 0.9334 0.874 0.9236 0.6384 0.9202 0.94 0.87 0.91 0.64 0.9042 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 2.904974 2.904974 NA 0.959767 0.672038 NA 0.913 NA 1.202633 1540 2 233243660 233243660 T C intronic ALPP NA NA NA intronic ENSG00000163283 NA NA NA NA NA 2q37.1 NA NA NA NA rs2014448 0.92 0.92 0.951 0.949681 0.9443 0.9415 0.8703 0.9924 0.9622 0.93 0.92 0.86 0.97 0.9243 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 1.330381 1.330381 NA 0.928937 0.979346 NA 0.964 NA 1.202463 1540 19 44503379 44503379 C T downstream ZNF155 NA NA NA ncRNA_exonic ENSG00000266921 NA NA NA NA NA 19q13.31 NA NA NA NA rs452554 0.93 0.93 0.924 0.927117 0.993 1 0.9741 0.7474 0.9939 0.99 1 0.97 0.74 0.9775 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.381847 NA NA 0.994224 0.772831 NA 0.964 NA 1.2019426 1540 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 1540 19 18245813 18245813 T C intronic MAST3 NA NA NA intronic ENSG00000099308 NA NA NA NA NA 19p13.11 NA NA NA NA rs273499 0.95 0.95 0.943 0.939497 0.9264 0.9623 0.951 0.9349 0.9274 0.93 0.97 0.94 0.94 0.9391 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 0.751871 NA NA 0.934678 0.942061 NA 0.957 NA 1.199822 1540 20 13074235 13074235 G A intronic SPTLC3 NA NA NA intronic ENSG00000172296 NA NA NA NA NA 20p12.1 NA NA NA NA rs708937 0.96 0.96 0.968 0.97504 0.9165 1 0.9683 0.9977 0.9836 0.91 1 0.96 0.99 0.9483 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.081153 NA NA 0.936265 0.99108 NA 0.964 NA 1.198935 1540 6 7414657 7414657 T C intronic RIOK1 NA NA NA intronic ENSG00000124784 NA NA NA NA NA 6p24.3 NA NA NA NA rs4960314 0.89 0.89 0.873 0.885783 0.9404 0.9067 0.9438 0.733 0.9734 0.94 0.91 0.94 0.74 0.9244 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 -0.122478 NA NA 0.936395 0.772129 NA 0.848 NA 1.198805 1540 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 1540 22 26830478 26830478 A G intronic ASPHD2 NA NA NA intronic ENSG00000128203 NA NA NA NA NA 22q12.1 NA NA NA NA rs3788398 0.88 0.88 0.875 0.866014 0.9523 0.8651 0.781 0.8154 0.907 0.96 0.87 0.78 0.83 0.9054 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 1.742967 1.742967 NA 0.944884 0.842261 NA 0.899 NA 1.197416 1540 12 51467596 51467596 A C intronic CSRNP2 NA NA NA intronic ENSG00000110925 NA NA NA NA NA 12q13.12 NA NA NA NA rs11169696 0.82 0.82 0.807 0.823682 0.9433 0.8254 0.7608 0.6861 0.9294 0.94 0.81 0.8 0.68 0.9014 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 1.168952 NA NA 0.958837 0.743078 NA 0.855 NA 1.196463 1540 22 50518723 50518723 A G intronic MLC1 NA NA NA intronic ENSG00000100427 NA NA NA NA NA 22q13.33 NA NA NA NA rs79301 0.96 0.96 0.961 0.973642 0.9254 0.999 0.9452 0.9977 0.9847 0.93 1 0.93 1 0.9515 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.238108 NA NA 0.927309 0.982508 NA 0.993 NA 1.195791 1541 22 26895061 26895061 G A intronic TFIP11 NA NA NA intronic ENSG00000100109 NA NA NA NA NA 22q12.1 NA NA NA NA rs2157586 0.93 0.93 0.932 0.92492 0.9364 0.877 0.8919 0.9962 0.8896 0.94 0.88 0.89 1 0.9346 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.070473 NA NA 0.93407 0.985928 NA 0.935 NA 1.19493 1541 1 887560 887560 A C intronic NOC2L NA NA NA intronic ENSG00000188976 NA NA NA NA NA 1p36.33 NA NA NA NA rs3748595 0.84 0.84 0.901 0.89976 0.9483 0.9206 0.9092 0.829 0.9172 0.85 0.86 0.86 0.78 0.9241 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 -0.559465 NA NA 0.932674 0.831139 NA 0.899 NA 1.194926 1541 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 1541 5 179565071 179565071 G C intronic RASGEF1C NA NA NA UTR5 ENSG00000146090 ENST00000393371:c.-19C>G NA NA NA NA 5q35.3 NA NA NA NA rs4700878 0.94 0.94 0.924 0.927516 0.997 1 0.9697 0.7436 1 1 1 0.98 0.76 0.9778 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.553073 2.553073 NA 0.99907 0.787562 NA 0.913 NA 1.1927967 1541 11 552547 552547 T C intronic LRRC56 NA NA NA intronic ENSG00000161328 NA NA NA NA NA 11p15.5 NA NA NA NA rs3740652 0.9 0.9 0.881 0.893171 0.9364 0.9524 0.9352 0.7602 0.9376 0.94 0.96 0.93 0.77 0.9351 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 0.64527 NA NA 0.936113 0.779439 NA 0.87 NA 1.192387 1541 18 21055092 21055092 A C intronic RIOK3 NA NA NA intronic ENSG00000101782 NA NA NA NA NA 18q11.2 NA NA NA NA rs7235571 0.89 0.89 0.935 0.919928 0.9245 0.9435 0.9669 0.969 0.7914 0.88 0.92 0.91 0.89 0.932 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 2.531318 2.531318 NA 0.951605 0.965048 NA 0.964 NA 1.191895 1541 4 72423624 72423624 C T intronic SLC4A4 NA NA NA intronic ENSG00000080493 NA NA NA NA NA 4q13.3 NA NA NA NA rs1453474 0.82 0.82 0.802 0.786342 0.9632 0.744 0.8919 0.615 0.8047 0.96 0.74 0.89 0.63 0.8911 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 0.495898 NA NA 0.955687 0.671811 NA 0.833 NA 1.190013 1541 9 138590138 138590138 T C intronic SOHLH1 NA NA NA intronic ENSG00000165643 NA NA NA NA NA 9q34.3 NA NA NA NA rs506498 0.89 0.89 0.888 0.903754 0.9473 0.9712 0.9352 0.7723 0.9448 0.94 0.97 0.92 0.72 0.9334 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 0.069037 NA NA 0.93093 0.817666 NA 0.899 NA 1.18837 1541 1 889159 889159 A C intronic NOC2L NA NA NA intronic ENSG00000188976 NA NA NA NA NA 1p36.33 NA NA NA NA rs13302945 0.85 0.85 0.89 0.904353 0.9523 0.9365 0.9135 0.829 0.9172 0.85 0.88 0.87 0.79 0.9279 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 0.515786 NA NA 0.932294 0.823342 NA NA NA 1.187506 1541 15 40313083 40313083 G T intronic EIF2AK4 NA NA NA intronic ENSG00000128829 NA NA NA NA NA 15q15.1 NA NA NA NA rs12916520 0.86 0.86 0.866 0.868211 0.9433 0.7063 0.9164 0.8767 0.9121 0.94 0.7 0.91 0.87 0.9189 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 -0.144091 NA NA 0.950631 0.913952 NA 0.899 NA 1.187169 1541 6 123038888 123038888 T C intronic PKIB NA NA NA UTR5 ENSG00000135549 ENST00000368446:c.-25T>C NA NA NA NA 6q22.31 NA NA NA NA rs6900745 0.94 0.94 0.969 0.989018 1 1 0.9971 0.9599 1 0.96 0.95 0.93 0.91 0.9964 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 0.253217 NA NA 0.983174 0.9121 NA NA NA 1.1870927 1541 4 123949556 123949556 G A intronic SPATA5 NA NA NA intronic ENSG00000145375 NA NA NA NA NA 4q28.1 NA NA NA NA rs1472949 0.9 0.9 0.883 0.878594 0.9463 0.9534 0.8444 0.7587 0.9182 0.95 0.95 0.86 0.78 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 -1.064733 NA NA 0.950465 0.787335 NA 0.855 NA 1.186535 1541 1 889158 889158 G C intronic NOC2L NA NA NA intronic ENSG00000188976 NA NA NA NA NA 1p36.33 NA NA NA NA rs13303056 0.85 0.85 0.889 0.904353 0.9523 0.9365 0.9135 0.829 0.9172 0.85 0.88 0.87 0.79 0.9279 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 -0.33479 NA NA 0.933341 0.823797 NA NA NA 1.186459 1542 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 1542 9 14640055 14640055 C T intronic ZDHHC21 NA NA NA intronic ENSG00000175893 NA NA NA NA NA 9p22.3 NA NA NA NA rs6474849 0.9 0.9 0.885 0.880591 0.9503 0.9216 0.8674 0.7572 0.9427 0.95 0.93 0.88 0.79 0.9181 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 1.224519 NA NA 0.946761 0.80687 NA 0.841 NA 1.184839 1542 18 43221341 43221341 T C intronic SLC14A2 NA NA NA intronic ENSG00000132874 NA NA NA NA NA 18q12.3 NA NA NA NA rs7233416 0.89 0.89 0.89 0.897963 0.9404 0.7837 0.9121 0.9259 0.9243 0.94 0.77 0.9 0.93 0.921 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 0.607312 NA NA 0.953837 0.928507 NA 0.949 NA 1.184763 1542 12 113539822 113539822 A G intronic RASAL1 NA NA NA intronic ENSG00000111344 NA NA NA NA NA 12q24.13 NA NA NA NA rs1674101 0.91 0.91 0.883 0.909145 0.9414 0.8363 0.9784 0.8888 0.9294 0.93 0.84 0.97 0.9 0.9312 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 0.099916 NA NA 0.944535 0.898774 NA 0.906 NA 1.182865 1542 4 143130034 143130034 A T intronic INPP4B NA NA NA intronic ENSG00000109452 NA NA NA NA NA 4q31.21 NA NA NA NA rs1907123 0.92 0.92 0.906 0.903355 0.9463 0.9683 0.9395 0.7844 0.9274 0.95 0.97 0.96 0.78 0.9301 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 0.374681 NA NA 0.940814 0.824784 NA 0.819 NA 1.182786 1542 9 134386903 134386903 G A intronic POMT1 NA NA NA intronic ENSG00000130714 NA NA NA NA NA 9q34.13 NA NA NA NA rs10901066 0.87 0.87 0.861 0.870807 0.9423 0.9246 0.8343 0.7179 0.9744 0.94 0.92 0.86 0.71 0.9231 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 -1.167558 NA NA 0.952209 0.740808 NA 0.928 NA 1.182391 1542 3 38401918 38401918 A G intronic XYLB NA NA NA intronic ENSG00000093217 NA NA NA NA NA 3p22.2 NA NA NA NA rs818849 0.9 0.9 0.893 0.901558 0.9414 1 0.9438 0.7133 0.9836 0.94 1 0.94 0.71 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 0.706985 NA NA 0.938721 0.773945 NA 0.906 NA 1.182279 1542 10 22830719 22830719 G C intronic PIP4K2A NA NA NA intronic ENSG00000150867 NA NA NA NA NA 10p12.2 NA NA NA NA rs943192 0.93 0.93 0.916 0.926917 0.9394 0.999 0.9265 0.8419 0.955 0.94 1 0.92 0.82 0.9427 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.285777 NA NA 0.935698 0.854744 NA 0.913 NA 1.182202 1542 2 121713030 121713030 G A intronic GLI2 NA NA NA intronic ENSG00000074047 NA NA NA NA NA 2q14.2 NA NA NA NA rs12614482 0.82 0.82 0.748 0.785942 0.9513 0.999 0.9063 0.3101 0.954 0.95 1 0.91 0.34 0.9234 1 NA NA 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 0.943678 0.384791 NA 0.717 NA 1.181622 1542 7 2296493 2296493 A G intronic SNX8 NA NA NA intronic ENSG00000106266 NA NA NA NA NA 7p22.3 NA NA NA NA rs2302070 0.85 0.85 0.861 0.83127 0.9583 0.8026 0.866 0.7118 0.8671 0.96 0.8 0.85 0.72 0.9048 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 0.298814 NA NA 0.955465 0.740236 NA 0.826 NA 1.181435 1542 9 111812825 111812825 C T intronic TMEM245 NA NA NA intronic ENSG00000106771 NA NA NA NA NA 9q31.3 NA NA NA NA rs614253 0.95 0.95 0.945 0.942292 0.9334 1 0.9669 0.8684 0.9744 0.94 1 0.97 0.88 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 -1.13308 NA NA 0.938166 0.895216 NA 0.971 NA 1.181134 1542 9 130710726 130710726 A G intronic FAM102A NA NA NA intronic ENSG00000167106 NA NA NA NA NA 9q34.11 NA NA NA NA rs4837212 0.82 0.82 0.791 0.796526 0.9622 0.6518 0.9207 0.7496 0.7505 0.96 0.63 0.91 0.76 0.8951 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 0.240294 NA NA 0.963372 0.762596 NA 0.862 NA 1.179328 1542 12 19406863 19406863 C T intronic PLEKHA5 NA NA NA intronic ENSG00000052126 NA NA NA NA NA 12p12.3 NA NA NA NA rs6486942 0.79 0.79 0.749 0.758786 0.9563 0.5883 0.9308 0.6082 0.8129 0.96 0.6 0.91 0.64 0.8937 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 -0.59855 NA NA 0.970698 0.637994 NA 0.812 NA 1.179302 1542 6 132043349 132043349 A T intronic ENPP3 NA NA NA intronic ENSG00000154269 NA NA NA NA NA 6q23.2 NA NA NA NA rs378697 0.96 0.96 0.969 0.979034 0.9334 1 0.9611 0.9962 0.9939 0.92 1 0.95 1 0.9555 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.35757 NA NA 0.932209 0.986382 NA 0.957 NA 1.178891 1542 10 3155753 3155753 G C intronic PFKP NA NA NA intronic ENSG00000067057 NA NA NA NA NA 10p15.2 NA NA NA NA rs4881087 0.91 0.91 0.914 0.890575 0.9503 0.9762 0.9078 0.7284 0.9479 0.95 0.98 0.9 0.74 0.928 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 -0.491702 NA NA 0.944367 0.727644 NA 0.92 NA 1.177333 1542 1 24485518 24485518 T C intronic IFNLR1 NA NA NA UTR3 ENSG00000185436 ENST00000374419:c.*18A>G NA NA NA NA 1p36.11 NA NA NA NA rs10751769 1 1 0.997 0.995807 0.995 1 0.9986 0.9894 0.999 1 1 1 1 0.9983 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.26437 NA NA 0.998256 0.995007 NA 0.993 NA 1.1751107 1543 1 33134989 33134989 A G intronic RBBP4 NA NA NA intronic ENSG00000162521 NA NA NA NA NA 1p35.1 NA NA NA NA rs359956 0.81 0.81 0.799 0.78095 0.9632 0.869 0.7435 0.4902 0.9223 0.97 0.87 0.78 0.53 0.9019 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 0.162652 NA NA 0.960321 0.576624 NA 0.783 NA 1.174579 1543 9 140040156 140040156 G A intronic GRIN1 NA NA NA intronic ENSG00000176884 NA NA NA NA NA 9q34.3 NA NA NA NA rs10870196 0.95 0.95 0.961 0.948482 0.9463 0.9345 0.9452 0.9826 0.9213 0.95 0.93 0.93 0.98 0.9468 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 0.790226 NA NA 0.932643 0.976623 NA 0.717 NA 1.174257 1543 7 75614082 75614082 C G intronic POR NA NA NA intronic ENSG00000127948 NA NA NA NA NA 7q11.23 NA NA NA NA rs4732516 0.81 0.81 0.788 0.811901 0.9533 0.8442 0.8905 0.5499 0.9315 0.96 0.84 0.89 0.5 0.9091 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 -1.093466 NA NA 0.963585 0.63143 NA 0.725 NA 1.174015 1543 15 56130286 56130286 A T intronic NEDD4 NA NA NA intronic ENSG00000069869 NA NA NA NA NA 15q21.3 NA NA NA NA rs11071227 0.92 0.92 0.932 0.913738 0.9573 0.9683 0.853 0.857 0.9325 0.94 0.97 0.88 0.86 0.9149 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 0.316654 NA NA 0.954347 0.870628 NA 0.957 NA 1.173453 1543 17 73228101 73228101 T C intronic NUP85 NA NA NA UTR3 ENSG00000125450 ENST00000578830:c.*407T>C NA NA NA NA 17q25.1 NA NA NA NA rs899318 0.86 0.86 0.979 0.980431 1 1 0.9914 0.9304 1 0.87 0.9 0.91 0.77 0.9938 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.825599 NA NA 0.999651 0.937812 NA 0.978 NA 1.1732157 1543 5 36260976 36260976 T A intronic RANBP3L NA NA NA intronic ENSG00000164188 NA NA NA NA NA 5p13.2 NA NA NA NA rs6881086 0.78 0.78 0.759 0.783746 0.9563 0.7083 0.8184 0.5749 0.9417 0.96 0.66 0.86 0.61 0.8985 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 3.873693 3.873693 NA 0.972189 0.661588 NA 0.819 NA 1.173011 1543 12 124090453 124090453 A G intronic DDX55 NA NA NA UTR3 ENSG00000111364 ENST00000540763:c.*21A>G NA NA NA NA 12q24.31 NA NA NA NA rs786436 0.99 0.99 0.987 0.988818 1 1 0.9942 0.9607 1 1 1 1 0.96 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 0.269389 NA NA 0.999884 0.959601 NA 0.986 NA 1.1703827 1543 4 48582836 48582836 A T intronic FRYL NA NA NA UTR3 ENSG00000075539 ENST00000506685:c.*7T>A NA NA NA NA 4p11 NA NA NA NA rs4695390 0.99 0.99 0.981 0.987021 1 1 0.9957 0.9531 1 1 1 1 0.94 0.9966 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.465868 NA NA 1 0.964133 NA 0.993 NA 1.1700667 1543 3 56674190 56674190 A C intronic FAM208A NA NA NA intronic ENSG00000163946 NA NA NA NA NA 3p14.3 NA NA NA NA rs1489949 0.97 0.97 0.971 0.980831 0.9394 1 0.964 0.9955 0.9959 0.93 1 0.96 0.99 0.9543 1 NA NA 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 0.936497 0.988874 NA 0.986 NA 1.169803 1543 15 78911261 78911261 T C intronic CHRNA3 NA NA NA UTR5 ENSG00000080644 ENST00000559080:c.-123A>G NA NA NA NA 15q25.1 NA NA NA NA rs2869547 0.99 0.99 0.992 0.986821 1 1 0.9942 0.9531 1 1 1 0.99 0.98 0.9973 1 NA NA 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 0.999651 0.975182 NA 0.993 NA 1.1697157 1543 9 131482467 131482467 T C intronic PKN3 NA NA NA intronic ENSG00000160447 NA NA NA NA NA 9q34.11 NA NA NA NA rs3750325 0.85 0.85 0.825 0.83127 0.9553 0.9157 0.9352 0.5431 0.9325 0.95 0.9 0.92 0.57 0.9201 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 2.488234 2.488234 NA 0.956618 0.578983 NA 0.804 NA 1.167982 1543 19 34885006 34885006 A G intronic GPI NA NA NA intronic ENSG00000105220 NA NA NA NA NA 19q13.11 NA NA NA NA rs8108038 0.91 0.91 0.917 0.885383 0.9533 0.998 0.9294 0.7519 0.8487 0.95 1 0.92 0.75 0.9281 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.122356 NA NA 0.952442 0.795279 NA 0.87 NA 1.166158 1544 12 97085107 97085107 A C intergenic CDK17,NEDD1 dist=290741;dist=215894 NA NA intronic ENSG00000270032 NA NA NA NA NA 12q23.1 NA NA NA NA rs4762319 0.9 0.9 0.901 0.920527 0.8201 0.9474 0.8963 0.9826 0.9294 0.83 0.93 0.87 0.98 0.8751 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 -0.146892 NA NA 0.807164 0.960508 NA 0.87 NA 1.1643027 1544 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 1544 1 52402956 52402956 G A intronic RAB3B NA NA NA intronic ENSG00000169213 NA NA NA NA NA 1p32.3 NA NA NA NA rs10888742 0.91 0.91 0.891 0.881589 0.9503 0.997 0.9539 0.6831 0.909 0.95 1 0.96 0.7 0.9327 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.123101 NA NA 0.953372 0.742397 NA 0.899 NA 1.163628 1544 3 52512318 52512318 A G intronic NISCH NA NA NA intronic ENSG00000010322 NA NA NA NA NA 3p21.1 NA NA NA NA rs2109559 0.96 0.96 0.963 0.964657 0.9364 0.9782 0.9352 0.9962 0.9581 0.94 0.98 0.92 0.99 0.9566 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 0.038547 NA NA 0.943372 0.986382 NA 0.978 NA 1.163628 1544 12 20766685 20766685 G C intronic PDE3A NA NA NA intronic ENSG00000172572 NA NA NA NA NA 12p12.2 NA NA NA NA rs7308381 0.94 0.94 0.941 0.935703 0.9463 1 0.9481 0.8502 0.9652 0.95 1 0.94 0.87 0.9482 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.091246 NA NA 0.942245 0.879318 NA 0.942 NA 1.163255 1544 17 72888836 72888836 G A intronic FADS6 NA NA NA intronic ENSG00000172782 NA NA NA NA NA 17q25.1 NA NA NA NA rs489152 0.88 0.88 0.861 0.878395 0.9543 0.9187 0.9352 0.7163 0.9376 0.95 0.95 0.91 0.66 0.9308 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 -0.284752 NA NA 0.952163 0.776263 NA 0.848 NA 1.162737 1544 20 61990874 61990874 T C intronic CHRNA4 NA NA NA intronic ENSG00000101204 NA NA NA NA NA 20q13.33 NA NA NA NA rs6090384 0.88 0.88 0.848 0.871805 0.9553 0.999 0.9352 0.6089 0.9652 0.96 1 0.93 0.59 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 0.344154 NA NA 0.949242 0.670843 NA 0.848 NA 1.162358 1544 13 21746453 21746453 T C intronic SKA3 NA NA NA intronic ENSG00000165480 NA NA NA NA NA 13q12.11 NA NA NA NA rs2026600 0.92 0.92 0.912 0.914936 0.9473 0.999 0.9337 0.7617 0.9888 0.95 1 0.92 0.78 0.9462 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.919697 NA NA 0.944729 0.799637 NA 0.92 NA 1.161771 1544 12 51089616 51089616 T C intronic DIP2B NA NA NA intronic ENSG00000066084 NA NA NA NA NA 12q13.12 NA NA NA NA rs2684891 0.8 0.8 0.78 0.794329 0.9722 0.6627 0.7968 0.7284 0.8344 0.97 0.64 0.81 0.71 0.8908 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 3.676322 3.676322 NA 0.975465 0.766682 NA 0.841 NA 1.161535 1544 16 57255363 57255363 T C intronic RSPRY1 NA NA NA intronic ENSG00000159579 NA NA NA NA NA 16q13 NA NA NA NA rs7206038 0.97 0.97 0.969 0.971046 0.9473 0.9911 0.9366 0.9909 0.9724 0.95 0.99 0.94 0.99 0.9447 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 0.003486 NA NA 0.948372 0.981119 NA 0.949 NA 1.159628 1544 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 1544 9 96030230 96030230 T C intronic WNK2 NA NA NA intronic ENSG00000165238 NA NA NA NA NA 9q22.31 NA NA NA NA rs7856268 0.92 0.92 0.9 0.891374 0.9563 0.999 0.9582 0.6702 0.9652 0.96 1 0.96 0.74 0.9403 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.752073 NA NA 0.946125 0.71675 NA 0.899 NA 1.157275 1544 6 105577401 105577401 C T intronic BVES NA NA NA intronic ENSG00000112276 NA NA NA NA NA 6q21 NA NA NA NA rs4946656 0.88 0.88 0.868 0.853435 0.9592 0.9355 0.951 0.6233 0.9018 0.96 0.93 0.94 0.67 0.9261 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 -0.079009 NA NA 0.957674 0.689741 NA 0.862 NA 1.157026 1544 7 99365943 99365943 C A intronic CYP3A4 NA NA NA intronic ENSG00000160868 NA NA NA NA NA 7q22.1 NA NA NA NA rs2687116 0.81 0.81 0.769 0.779752 0.9702 0.995 0.8977 0.2791 0.955 0.97 1 0.89 0.27 0.9115 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.623457 NA NA 0.962674 0.400136 NA 0.79 NA 1.155626 1545 7 157370688 157370688 C G intronic PTPRN2 NA NA NA intronic ENSG00000155093 NA NA NA NA NA 7q36.3 NA NA NA NA rs122004 0.9 0.9 0.935 0.918131 0.9473 0.7897 0.8631 0.997 0.953 0.94 0.78 0.86 0.99 0.9365 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 -0.552766 NA NA 0.961279 0.992283 NA 0.957 NA 1.154921 1545 7 106519943 106519943 T C intronic PIK3CG NA NA NA intronic ENSG00000105851 NA NA NA NA NA 7q22.3 NA NA NA NA rs849370 0.94 0.94 0.936 0.940695 0.9513 0.997 0.9597 0.8646 0.9611 0.95 1 0.94 0.86 0.9484 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.031796 NA NA 0.946279 0.871085 NA 0.964 NA 1.154021 1545 2 160737560 160737560 G T intronic LY75,LY75-CD302 NA NA NA intronic ENSG00000054219,ENSG00000248672 NA NA NA NA NA 2q24.2 NA NA NA NA rs2729711 0.86 0.86 0.839 0.832668 0.9612 1 0.9294 0.447 0.9806 0.96 1 0.93 0.47 0.9232 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.644729 NA NA 0.962442 0.540172 NA 0.804 NA 1.153158 1545 1 186925194 186925194 T C intronic PLA2G4A NA NA NA intronic ENSG00000116711 NA NA NA NA NA 1q31.1 NA NA NA NA rs5007824 0.97 0.97 0.972 0.981629 0.9483 0.997 0.9755 0.9977 0.9826 0.94 1 0.96 0.99 0.9556 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.507229 NA NA 0.943372 0.985701 NA 0.986 NA 1.152728 1545 15 45059390 45059390 C T intronic TRIM69 NA NA NA intronic ENSG00000185880 NA NA NA NA NA 15q21.1 NA NA NA NA rs6493127 0.94 0.94 0.954 0.926917 0.9612 0.8532 0.9452 0.9985 0.8579 0.96 0.87 0.93 1 0.9348 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.32866 1.32866 NA 0.951327 0.989031 NA 0.978 NA 1.152673 1545 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 1545 10 72298631 72298631 T C intronic PALD1 NA NA NA intronic ENSG00000107719 NA NA NA NA NA 10q22.1 NA NA NA NA rs1122918 0.92 0.92 0.9 0.900559 0.9523 0.999 0.9597 0.7421 0.9182 0.95 1 0.96 0.76 0.9361 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.567108 NA NA 0.959283 0.780754 NA 0.877 NA 1.152317 1545 1 17418883 17418883 A G intronic PADI2 NA NA NA intronic ENSG00000117115 NA NA NA NA NA 1p36.13 NA NA NA NA rs2647184 0.96 0.96 0.961 0.975639 0.9463 0.997 0.9813 0.9667 0.9918 0.94 1 0.98 0.95 0.9556 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.255408 1.255408 NA 0.946163 0.95665 NA 0.964 NA 1.151937 1545 10 7866268 7866268 C G intronic TAF3 NA NA NA intronic ENSG00000165632 NA NA NA NA NA 10p14 NA NA NA NA rs7070208 0.97 0.97 NA 0.966454 0.999 1 0.9942 0.8767 1 1 1 1 0.89 0.8505 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.425275 NA NA 0.99951 0.911636 NA 0.761 NA 1.15099 1545 1 201113118 201113118 A G intronic TMEM9 NA NA NA intronic ENSG00000116857 NA NA NA NA NA 1q32.1 NA NA NA NA rs3738266 0.94 0.94 0.943 0.938698 0.9543 0.874 0.9625 0.9433 0.9663 0.95 0.88 0.96 0.96 0.942 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 0.309629 NA NA 0.95314 0.937585 NA 0.978 NA 1.15056 1545 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 1545 15 63014548 63014548 A G intronic TLN2 NA NA NA intronic ENSG00000171914 NA NA NA NA NA 15q22.2 NA NA NA NA rs10775181 0.87 0.87 0.851 0.855831 0.9592 0.9702 0.9236 0.5719 0.9673 0.96 0.97 0.9 0.6 0.9326 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 1.89705 1.89705 NA 0.95907 0.633 NA 0.812 NA 1.14913 1545 1 86210546 86210546 G A intronic COL24A1 NA NA NA intronic ENSG00000171502 NA NA NA NA NA 1p22.3 NA NA NA NA rs7547023 0.88 0.88 0.873 0.846845 0.9692 0.9306 0.817 0.6823 0.8783 0.97 0.94 0.84 0.72 0.9167 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 2.199932 2.199932 NA 0.966152 0.743982 NA 0.841 NA 1.147948 1545 11 836227 836227 A G intronic CD151 NA NA NA intronic ENSG00000177697 NA NA NA NA NA 11p15.5 NA NA NA NA rs28434354 0.97 0.97 0.943 0.969249 0.9483 0.999 0.9784 0.9418 0.9908 0.95 1 0.98 0.95 0.9566 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.781713 NA NA 0.947344 0.951114 NA 0.754 NA 1.147756 1545 19 21349311 21349311 C T intronic ZNF431 NA NA NA intronic ENSG00000196705 NA NA NA NA NA 19p12 NA NA NA NA rs7256576 0.91 0.91 0.92 0.899161 0.9632 0.8284 0.8141 0.9546 0.8916 0.96 0.84 0.86 0.96 0.9255 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 -0.774725 NA NA 0.963953 0.958012 NA 0.949 NA 1.147347 1545 2 61121492 61121492 G A intronic REL NA NA NA intronic ENSG00000162924 NA NA NA NA NA 2p16.1 NA NA NA NA rs842644 0.97 0.97 0.976 0.975439 0.9533 1 0.9409 0.997 0.9683 0.94 1 0.95 1 0.9497 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.280188 NA NA 0.950198 0.989086 NA 0.978 NA 1.146802 1545 17 74944709 74944709 T C intronic MGAT5B NA NA NA intronic ENSG00000167889 NA NA NA NA NA 17q25.2 NA NA NA NA rs9894270 0.92 0.92 0.911 0.917133 0.9523 0.9137 0.9035 0.8956 0.9233 0.95 0.91 0.94 0.88 0.9443 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 0.670824 NA NA 0.956608 0.901044 NA 0.891 NA 1.146792 1545 8 48846519 48846519 T C intronic PRKDC NA NA NA intronic ENSG00000253729 NA NA NA NA NA 8q11.21 NA NA NA NA rs1231202 0.97 0.97 0.975 0.983626 0.9453 1 0.9755 0.9992 0.9908 0.94 1 0.97 1 0.9598 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.114971 NA NA 0.948861 0.991132 NA 0.993 NA 1.146039 1545 14 73198506 73198506 T C intronic DPF3 NA NA NA intronic ENSG00000205683 NA NA NA NA NA 14q24.2 NA NA NA NA rs6574094 0.93 0.93 0.907 0.926518 0.9473 1 0.964 0.7965 0.9785 0.95 1 0.96 0.79 0.9525 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.10644 NA NA 0.954981 0.829851 NA 0.913 NA 1.145219 1546 12 123812611 123812611 A G intronic SBNO1 NA NA NA intronic ENSG00000139697 NA NA NA NA NA 12q24.31 NA NA NA NA rs10846517 0.9 0.9 0.905 0.911342 0.9493 0.746 0.938 0.9644 0.9519 0.97 0.74 0.94 0.97 0.9442 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 0.963454 NA NA 0.961628 0.957558 NA 0.964 NA 1.144872 1546 17 65882457 65882457 T A intronic BPTF NA NA NA intronic ENSG00000171634 NA NA NA NA NA 17q24.2 NA NA NA NA rs8072824 0.87 0.87 0.872 0.868211 0.9543 0.881 0.902 0.7073 0.9601 0.96 0.87 0.9 0.73 0.9377 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 -0.063285 NA NA 0.963372 0.745574 NA 0.862 NA 1.144628 1546 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 1546 1 99150635 99150635 G A intronic SNX7 NA NA NA intronic ENSG00000162627 NA NA NA NA NA 1p21.3 NA NA NA NA rs9433747 0.88 0.88 0.862 0.858427 0.9592 0.8958 0.9568 0.6278 0.9581 0.96 0.9 0.96 0.67 0.933 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 -0.095184 NA NA 0.964286 0.684462 NA 0.877 NA 1.143514 1546 13 53254082 53254082 T C intronic SUGT1 NA NA NA intronic ENSG00000165416 NA NA NA NA NA 13q14.3 NA NA NA NA rs4539485 0.97 0.97 0.964 0.96266 0.9583 0.9921 0.9769 0.9644 0.9243 0.96 0.99 0.97 0.96 0.9521 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 2.147032 2.147032 NA 0.946242 0.962761 NA 0.906 NA 1.143358 1546 11 68825037 68825037 A C intronic TPCN2 NA NA NA intronic ENSG00000162341 NA NA NA NA NA 11q13.3 NA NA NA NA rs3750973 0.76 0.76 0.789 0.747804 0.9871 0.5298 0.6138 0.6755 0.9192 0.99 0.55 0.7 0.7 0.8786 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 1.461528 1.461528 NA 0.991034 0.723864 NA 0.775 NA 1.143266 1546 16 81167342 81167342 T G intronic PKD1L2 NA NA NA intronic ENSG00000166473 NA NA NA NA NA 16q23.2 NA NA NA NA rs11150346 0.91 0.91 0.887 0.895767 0.9563 0.9464 0.8761 0.7973 0.9284 0.96 0.93 0.9 0.8 0.9364 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 0.350959 NA NA 0.964759 0.838278 NA 0.797 NA 1.142541 1546 17 67031369 67031369 T C intronic ABCA9 NA NA NA intronic ENSG00000154258 NA NA NA NA NA 17q24.2 NA NA NA NA rs1860448 0.95 0.95 0.961 0.948882 0.9433 1 0.9597 0.8986 0.9622 0.95 1 0.96 0.91 0.9571 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.464643 NA NA 0.958837 0.913754 NA 0.957 NA 1.140763 1546 1 86249911 86249911 A G intronic COL24A1 NA NA NA intronic ENSG00000171502 NA NA NA NA NA 1p22.3 NA NA NA NA rs313725 0.89 0.89 0.89 0.85643 0.9642 0.9444 0.9006 0.6278 0.9325 0.96 0.95 0.91 0.67 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 0.0674 NA NA 0.963456 0.698745 NA 0.862 NA 1.140644 1546 3 62556622 62556622 A G intronic CADPS NA NA NA intronic ENSG00000163618 NA NA NA NA NA 3p14.2 NA NA NA NA rs833663 0.92 0.92 0.917 0.897963 0.9563 0.9782 0.9553 0.7655 0.8937 0.97 0.98 0.94 0.78 0.9408 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 4.409021 4.409021 NA 0.963488 0.776668 NA 0.906 NA 1.139412 1546 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 1546 19 10690557 10690557 G C intronic AP1M2 NA NA NA intronic ENSG00000129354 NA NA NA NA NA 19p13.2 NA NA NA NA rs10426276 0.97 0.97 0.978 0.972644 0.9543 0.997 0.9597 0.9985 0.9407 0.95 1 0.96 0.99 0.9566 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.817257 NA NA 0.95209 0.986366 NA 0.986 NA 1.13701 1546 19 15769992 15769992 A T intronic CYP4F3 NA NA NA intronic ENSG00000186529 NA NA NA NA NA 19p13.12 NA NA NA NA rs2460817 0.95 0.95 0.971 0.986821 0.9702 1 0.9813 1 0.9765 0.94 0.98 0.96 0.95 0.9445 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 0.146585 NA NA 0.948445 0.988132 NA 0.935 NA 1.136855 1547 16 1573810 1573810 A G intronic IFT140 NA NA NA intronic ENSG00000187535 NA NA NA NA NA 16p13.3 NA NA NA NA rs2745176 0.98 0.98 0.975 0.984425 0.9503 1 0.9827 0.9985 0.9857 0.95 1 0.97 1 0.9645 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.583561 NA NA 0.950465 0.990218 NA 0.92 NA 1.134735 1547 2 204111443 204111443 A G intronic CYP20A1 NA NA NA intronic ENSG00000119004 NA NA NA NA NA 2q33.2 NA NA NA NA rs6435176 0.87 0.87 NA 0.86901 0.9632 0.9266 0.9366 0.6596 0.9479 0.97 0.92 0.94 0.63 0.9368 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 0.533147 NA NA 0.965349 0.744212 NA 0.848 NA 1.134651 1547 19 45488567 45488567 T C intronic CLPTM1 NA NA NA intronic ENSG00000104853 NA NA NA NA NA 19q13.32 NA NA NA NA rs204471 0.91 0.91 0.92 0.902157 0.9672 0.9306 0.8689 0.8086 0.956 0.97 0.93 0.9 0.83 0.9431 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 -0.455074 NA NA 0.955698 0.848389 NA 0.884 NA 1.134002 1547 3 118909987 118909987 C T intronic UPK1B NA NA NA intronic ENSG00000114638 NA NA NA NA NA 3q13.32 NA NA NA NA rs3796357 0.91 0.91 0.895 0.882987 0.9672 0.9286 0.9078 0.7784 0.8732 0.97 0.93 0.93 0.78 0.9326 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 0.045968 NA NA 0.966977 0.813209 NA 0.891 NA 1.133223 1547 12 6575191 6575191 A T intronic VAMP1 NA NA NA intronic ENSG00000139190 NA NA NA NA NA 12p13.31 NA NA NA NA rs2534718 0.98 0.98 0.977 0.985823 0.9523 1 0.9841 0.9992 0.9888 0.95 1 0.99 1 0.9662 1 NA NA 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 0.949419 0.990014 NA 0.986 NA 1.132081 1547 1 169272451 169272451 A T intronic NME7 NA NA NA intronic ENSG00000143156 NA NA NA NA NA 1q24.2 NA NA NA NA rs10800427 0.98 0.98 0.977 0.982029 0.9592 0.997 0.9784 0.9985 0.9703 0.96 1 0.98 1 0.9608 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.719941 NA NA 0.947982 0.990661 NA NA NA 1.132018 1547 1 169272453 169272453 G A intronic NME7 NA NA NA intronic ENSG00000143156 NA NA NA NA NA 1q24.2 NA NA NA NA rs10800428 0.98 0.98 0.98 0.982827 0.9592 0.999 0.9784 0.9992 0.9714 0.96 1 0.98 1 0.9607 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.50842 NA NA 0.948203 0.990665 NA NA NA 1.131897 1547 1 31906882 31906882 A G intronic SERINC2 NA NA NA intronic ENSG00000168528 NA NA NA NA NA 1p35.2 NA NA NA NA rs11587589 0.89 0.89 0.9 0.851438 0.9751 0.7331 0.915 0.8918 0.7464 0.98 0.75 0.91 0.88 0.9128 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 -0.52669 NA NA 0.981047 0.903541 NA 0.935 NA 1.131053 1547 11 61106525 61106525 C T intronic DAK NA NA NA intronic ENSG00000149476,ENSG00000167986 NA NA NA NA NA 11q12.2 NA NA NA NA rs2512809 0.82 0.82 0.777 0.77476 0.9761 0.9692 0.9193 0.3533 0.8344 0.97 0.97 0.92 0.33 0.9136 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 -0.141378 NA NA 0.979763 0.449387 NA 0.754 NA 1.130537 1547 8 139889972 139889972 A G intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs4736255 0.97 0.97 0.979 0.977236 0.9533 1 0.9438 0.9977 0.9744 0.95 1 0.95 1 0.9583 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.268908 NA NA 0.958683 0.991084 NA 0.732 NA 1.129717 1547 1 86939390 86939390 G A intronic CLCA1 NA NA NA intronic ENSG00000016490 NA NA NA NA NA 1p22.3 NA NA NA NA rs2180762 0.92 0.92 0.92 0.915136 0.9543 0.9871 0.9582 0.7784 0.955 0.95 0.99 0.95 0.78 0.9507 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 1.592024 1.592024 NA 0.966279 0.812755 NA 0.949 NA 1.128721 1547 19 18650278 18650278 T C intronic FKBP8 NA NA NA intronic ENSG00000105701 NA NA NA NA NA 19p13.11 NA NA NA NA rs7247733 0.98 0.98 0.978 0.986022 0.9563 1 0.9784 0.9985 0.9908 0.96 1 0.96 1 0.9613 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.588885 NA NA 0.953721 0.988198 NA 0.978 NA 1.128679 1547 4 187584771 187584771 C G intronic FAT1 NA NA NA intronic ENSG00000083857 NA NA NA NA NA 4q35.2 NA NA NA NA rs172903 0.98 0.98 0.985 0.983427 0.9553 1 0.9611 0.9992 0.9898 0.96 1 0.96 1 0.9673 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.754005 NA NA 0.949844 0.989291 NA 1 NA 1.127556 1547 8 145234508 145234508 G C intronic MROH1 NA NA NA intronic ENSG00000179832 NA NA NA NA NA 8q24.3 NA NA NA NA rs7842771 0.87 0.87 0.857 0.851637 0.9682 0.998 0.9063 0.5287 0.9785 0.97 1 0.9 0.54 0.932 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.440268 NA NA 0.973227 0.624828 NA 0.768 NA 1.126573 1547 1 35925861 35925861 C A intronic KIAA0319L NA NA NA intronic ENSG00000142687 NA NA NA NA NA 1p34.3 NA NA NA NA rs2819002 0.98 0.98 0.979 0.986621 0.9573 1 0.9755 0.9977 0.9959 0.96 1 0.96 0.99 0.9678 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.81308 NA NA 0.949302 0.989333 NA 0.978 NA 1.125598 1548 1 33560338 33560338 A G intronic ADC NA NA NA intronic ENSG00000142920 NA NA NA NA NA 1p35.1 NA NA NA NA rs804428 0.98 0.98 0.974 0.988618 0.9602 1 0.9827 0.9977 0.998 0.96 1 0.97 0.99 0.9701 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.79247 NA NA 0.944767 0.990921 NA 0.971 NA 1.124933 1548 14 106369534 106369534 A G intergenic ELK2AP,KIAA0125 dist=230390;dist=14304 NA NA upstream;downstream ENSG00000232543;ENSG00000211923 NA NA NA NA NA 14q32.33 NA NA NA NA rs2516960 0.79 0.79 0.95 0.792133 0.8161 0.8899 0.6282 0.8101 0.7587 0.8 0.86 0.71 0.78 0.7716 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 -0.248963 NA NA 0.787488 0.799896 NA 0.196 NA 1.124812 1548 18 67742801 67742801 G A intronic RTTN NA NA NA intronic ENSG00000176225 NA NA NA NA NA 18q22.2 NA NA NA NA rs285228 0.89 0.89 0.849 0.857827 0.9602 1 0.9323 0.5492 0.9703 0.97 1 0.94 0.58 0.943 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.162626 NA NA 0.972331 0.642895 NA 0.797 NA 1.124469 1548 19 549595 549595 T C intronic GZMM NA NA NA intronic ENSG00000197540 NA NA NA NA NA 19p13.3 NA NA NA NA rs1599883 0.95 0.95 0.938 0.94349 0.9573 1 0.9625 0.8419 0.9949 0.97 1 0.95 0.87 0.9589 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.527153 NA NA 0.95939 0.85711 NA 0.797 NA 1.12441 1548 1 7869915 7869915 G C intronic PER3 NA NA NA intronic ENSG00000049246 NA NA NA NA NA 1p36.23 NA NA NA NA rs228668 0.97 0.97 0.969 0.976238 0.9513 1 0.9654 0.9796 0.9806 0.95 1 0.97 0.97 0.9693 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.090655 NA NA 0.955095 0.974569 NA 0.978 NA 1.124305 1548 3 53213538 53213538 C G intronic PRKCD NA NA NA intronic ENSG00000163932 NA NA NA NA NA 3p21.1 NA NA NA NA rs2035451 0.9 0.9 0.899 0.906749 0.9712 0.995 0.9539 0.7035 0.9908 0.97 1 0.96 0.64 0.9483 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.294735 NA NA 0.957057 0.702626 NA 0.848 NA 1.123443 1548 6 79918309 79918309 G A intronic HMGN3 NA NA NA intronic ENSG00000118418 NA NA NA NA NA 6q14.1 NA NA NA NA rs9341761 0.91 0.91 0.923 0.942492 0.9523 1 0.964 0.8411 0.9949 0.9 0.97 0.95 0.81 0.9607 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 4.053194 4.053194 NA 0.964651 0.850431 NA 0.913 NA 1.122349 1548 22 29881884 29881884 G A intronic NEFH NA NA NA intronic ENSG00000100285 NA NA NA NA NA 22q12.2 NA NA NA NA rs4823040 0.98 0.98 0.989 0.985823 0.9612 1 0.9683 0.9985 0.9918 0.96 1 0.96 1 0.9677 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179305 NA NA 0.948953 0.987063 NA 0.993 NA 1.122147 1548 15 69709686 69709686 G A intronic KIF23 NA NA NA intronic ENSG00000137807 NA NA NA NA NA 15q23 NA NA NA NA rs3759825 0.85 0.85 0.834 0.830471 0.9751 0.7986 0.8703 0.6248 0.9642 0.98 0.81 0.89 0.66 0.9251 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 0.15968 NA NA 0.979176 0.686903 NA 0.819 NA 1.120624 1548 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 1548 1 22310674 22310674 C T intronic CELA3B NA NA NA intronic ENSG00000219073 NA NA NA NA NA 1p36.12 NA NA NA NA rs7538207 0.84 0.84 0.815 0.849241 0.9722 0.755 0.9366 0.7095 0.9468 0.98 0.71 0.95 0.72 0.9333 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 0.106113 NA NA 0.974767 0.758965 NA 0.812 NA 1.119733 1548 10 88256943 88256943 C T intronic WAPAL NA NA NA intronic ENSG00000062650 NA NA NA NA NA 10q23.2 NA NA NA NA rs4934215 0.96 0.96 0.978 0.961062 0.9672 0.999 0.8213 0.997 0.9663 0.97 1 0.85 0.99 0.951 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.20309 NA NA 0.962093 0.991829 NA 0.978 NA 1.119707 1548 9 5988333 5988333 C T intronic KIAA2026 NA NA NA intronic ENSG00000183354 NA NA NA NA NA 9p24.1 NA NA NA NA rs2291055 0.84 0.84 0.814 0.811102 0.9751 0.6607 0.8862 0.6861 0.9131 0.98 0.71 0.92 0.72 0.9162 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 -0.890028 NA NA 0.989283 0.735327 NA 0.87 NA 1.119417 1548 12 301843 301843 A G intronic SLC6A12 NA NA NA intronic ENSG00000111181 NA NA NA NA NA 12p13.33 NA NA NA NA rs646569 0.92 0.92 0.919 0.927915 0.9692 0.8046 0.9467 0.9705 0.9417 0.98 0.78 0.96 0.98 0.9472 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 0.261483 NA NA 0.964302 0.965502 NA 0.964 NA 1.119298 1548 6 101312097 101312097 C T intronic ASCC3 NA NA NA intronic ENSG00000112249 NA NA NA NA NA 6q16.3 NA NA NA NA rs846791 0.98 0.98 0.983 0.980032 0.9672 0.9901 0.9885 0.9977 0.953 0.97 0.98 0.98 0.99 0.9605 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 0.29249 NA NA 0.953263 0.990682 NA 0.993 NA 1.119037 1548 20 35838591 35838591 T C intronic RPN2 NA NA NA intronic ENSG00000118705 NA NA NA NA NA 20q11.23 NA NA NA NA rs2050091 0.98 0.98 0.984 0.986621 0.9592 1 0.987 0.9985 0.9847 0.96 1 0.98 1 0.9664 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.533286 NA NA 0.955698 0.99251 NA 0.986 NA 1.118702 1548 9 379965 379965 T C intronic DOCK8 NA NA NA intronic ENSG00000107099 NA NA NA NA NA 9p24.3 NA NA NA NA rs10758420 0.95 0.95 0.932 0.944688 0.9592 1 0.9597 0.851 0.9888 0.96 1 0.98 0.85 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 -0.743492 NA NA 0.960581 0.876986 NA 0.913 NA 1.118519 1548 9 97822941 97822941 T C intronic C9orf3 NA NA NA intronic ENSG00000148120 NA NA NA NA NA 9q22.32 NA NA NA NA rs1888944 0.89 0.89 0.875 0.882188 0.9702 0.9583 0.902 0.708 0.9346 0.97 0.95 0.9 0.67 0.9414 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 2.9073 2.9073 NA 0.97186 0.735815 NA 0.877 NA 1.11654 1548 14 32563640 32563640 A G intronic ARHGAP5 NA NA NA intronic ENSG00000100852 NA NA NA NA NA 14q12 NA NA NA NA rs8004384 0.96 0.96 0.95 0.952476 0.9642 1 0.9755 0.9054 0.9387 0.96 1 0.98 0.87 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 -0.356551 NA NA 0.961456 0.919479 NA 0.942 NA 1.115744 1549 2 197986048 197986048 T C intronic ANKRD44 NA NA NA intronic ENSG00000065413 NA NA NA NA NA 2q33.1 NA NA NA NA rs2697270 0.92 0.92 0.921 0.916134 0.9622 0.9871 0.9467 0.7769 0.9622 0.97 0.98 0.95 0.77 0.9563 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 1.262108 1.262108 NA 0.966977 0.808443 NA 0.891 NA 1.114523 1549 9 139908265 139908265 T C intronic ABCA2 NA NA NA intronic ENSG00000107331 NA NA NA NA NA 9q34.3 NA NA NA NA rs10781531 0.95 0.95 0.945 0.955072 0.9513 1 0.9582 0.9047 0.9785 0.95 1 0.96 0.9 0.9704 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1133 NA NA 0.964072 0.912648 NA 0.92 NA 1.114228 1549 14 24771137 24771137 G A intronic NOP9 NA NA NA intronic ENSG00000196943 NA NA NA NA NA 14q12 NA NA NA NA rs4247000 0.91 0.91 0.935 0.91873 0.9742 0.8552 0.9323 0.8926 0.953 0.98 0.82 0.93 0.91 0.9472 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 0.169847 NA NA 0.964767 0.918066 NA 0.92 NA 1.113833 1549 2 86385886 86385886 A G intronic IMMT NA NA NA intronic ENSG00000132305 NA NA NA NA NA 2p11.2 NA NA NA NA rs6739460 0.95 0.95 0.962 0.954673 0.9583 1 0.9294 0.9228 0.9652 0.95 1 0.94 0.91 0.9607 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.769596 NA NA 0.967529 0.929108 NA 0.942 NA 1.113471 1549 14 24772922 24772922 C T intronic NOP9 NA NA NA intronic ENSG00000196943 NA NA NA NA NA 14q12 NA NA NA NA rs4982895 0.92 0.92 0.926 0.919928 0.9742 0.8552 0.9323 0.8971 0.953 0.98 0.82 0.93 0.92 0.9478 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 -0.084694 NA NA 0.964767 0.922152 NA 0.92 NA 1.113233 1549 12 133277983 133277983 T C intronic PXMP2 NA NA NA intronic ENSG00000176894,ENSG00000256632 NA NA NA NA NA 12q24.33 NA NA NA NA rs7958567 0.98 0.98 0.981 0.984625 0.9583 1 0.9669 0.9985 0.9898 0.96 1 0.96 1 0.9719 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.081263 NA NA 0.95686 0.992056 NA 0.978 NA 1.11294 1549 2 102788409 102788409 G A intronic IL1R1 NA NA NA intronic ENSG00000115594 NA NA NA NA NA 2q12.1 NA NA NA NA rs2041747 0.98 0.98 0.986 0.987021 0.9622 1 0.9928 0.9992 0.9785 0.96 1 0.98 1 0.9707 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287555 NA NA 0.956163 0.991829 NA 1 NA 1.110937 1549 20 60921896 60921896 A G intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA NA NA NA rs4925388 0.88 0.88 0.872 0.857029 0.9761 0.9613 0.8487 0.6089 0.9683 0.98 0.97 0.85 0.64 0.9375 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 -0.313328 NA NA 0.976357 0.678718 NA 0.826 NA 1.110043 1549 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 1549 17 60767461 60767461 C G intronic MRC2 NA NA NA intronic ENSG00000011028 NA NA NA NA NA 17q23.2 NA NA NA NA rs2465426 0.85 0.85 0.817 0.801717 0.9791 0.9435 0.9524 0.4516 0.8395 0.98 0.95 0.95 0.48 0.9285 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 -1.087054 NA NA 0.983946 0.571266 NA 0.819 NA 1.108454 1550 14 96813703 96813703 A T intronic ATG2B NA NA NA intronic ENSG00000066739 NA NA NA NA NA 14q32.2 NA NA NA NA rs4905483 0.85 0.85 0.847 0.844449 0.9841 0.5546 0.8847 0.9539 0.8231 0.98 0.56 0.89 0.95 0.9217 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 -0.250617 NA NA 0.990043 0.958481 NA 0.884 NA 1.104157 1550 9 130715922 130715922 A G intronic FAM102A NA NA NA intronic ENSG00000167106 NA NA NA NA NA 9q34.11 NA NA NA NA rs2417062 0.85 0.85 0.837 0.840655 0.9861 0.6518 0.9467 0.8585 0.7863 0.98 0.63 0.94 0.85 0.924 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 1.289495 1.289495 NA 0.987093 0.856105 NA 0.899 NA 1.102807 1550 12 133233705 133233705 T C intronic POLE NA NA NA intronic ENSG00000177084 NA NA NA NA NA 12q24.33 NA NA NA NA rs5744889 0.98 0.98 0.983 0.983826 0.9622 1 0.9697 0.9992 0.9785 0.96 1 0.96 1 0.9712 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.553899 NA NA 0.963953 0.990468 NA 0.978 NA 1.102647 1550 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 1550 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 1550 1 222825403 222825403 G A intronic MIA3 NA NA NA intronic ENSG00000154305 NA NA NA NA NA 1q41 NA NA NA NA rs3002150 0.95 0.95 0.942 0.932508 0.9771 0.8869 0.9813 0.9501 0.8753 0.98 0.9 0.97 0.94 0.9529 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 0.391375 NA NA 0.968949 0.932628 ID=COSN163447;OCCURENCE=1(breast) 0.971 NA 1.101051 1550 22 50715029 50715029 T C intronic PLXNB2 NA NA NA intronic ENSG00000196576 NA NA NA NA NA 22q13.33 NA NA NA NA rs5771119 0.98 0.98 0.984 0.987819 0.9652 0.998 0.9885 1 0.9836 0.96 0.99 0.99 1 0.9744 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.083858 NA NA 0.959967 0.9923 NA 0.413 NA 1.100433 1550 10 292927 292927 C A intronic ZMYND11 NA NA NA intronic ENSG00000015171 NA NA NA NA NA 10p15.3 NA NA NA NA rs2303990 0.92 0.92 0.915 0.90595 0.9771 0.9454 0.9035 0.7746 0.9714 0.98 0.96 0.91 0.79 0.9522 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 -1.323652 NA NA 0.972791 0.823423 NA 0.957 NA 1.097909 1550 15 28359744 28359744 G A intronic HERC2 NA NA NA intronic ENSG00000128731 NA NA NA NA NA 15q13.1 NA NA NA NA rs7495441 0.84 0.84 0.812 0.790935 0.9841 0.9772 0.9481 0.385 0.8374 0.98 0.98 0.95 0.38 0.9275 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 0.300419 NA NA 0.992326 0.501135 NA 0.775 NA 1.096074 1550 20 60921701 60921701 A G intronic LAMA5 NA NA NA intronic ENSG00000130702 NA NA NA NA NA 20q13.33 NA NA NA NA rs4925387 0.91 0.91 0.922 0.898163 0.9771 0.9613 0.8631 0.7557 0.9693 0.98 0.97 0.86 0.78 0.9497 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 -0.852875 NA NA 0.977897 0.791686 NA 0.899 NA 1.095303 1550 3 78676467 78676467 A G intronic ROBO1 NA NA NA intronic ENSG00000169855 NA NA NA NA NA 3p12.3 NA NA NA NA rs7636043 0.98 0.98 0.985 0.969848 0.9682 0.9861 0.9813 0.9773 0.9366 0.97 0.99 0.98 0.98 0.9648 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 -0.592473 NA NA 0.971915 0.976537 NA 0.964 NA 1.095085 1551 7 36934448 36934448 A G intronic ELMO1 NA NA NA intronic ENSG00000155849 NA NA NA NA NA 7p14.2 NA NA NA NA rs6462722 0.96 0.96 0.959 0.961262 0.9652 0.999 0.9669 0.9002 0.9969 0.97 1 0.95 0.91 0.9729 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.971906 NA NA 0.967209 0.89764 NA 0.942 NA 1.094691 1551 5 16762646 16762646 T C intronic MYO10 NA NA NA intronic ENSG00000145555 NA NA NA NA NA 5p15.1 NA NA NA NA rs31511 0.91 0.91 0.925 0.888578 0.9831 0.7817 0.8127 0.9312 0.8978 0.99 0.81 0.86 0.93 0.9391 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 -0.220788 NA NA 0.983226 0.928641 NA 0.906 NA 1.094574 1551 7 154679447 154679447 G A intronic DPP6 NA NA NA intronic ENSG00000130226 NA NA NA NA NA 7q36.2 NA NA NA NA rs940378 0.99 0.99 0.986 0.987819 0.9722 1 0.9712 0.9992 0.9877 0.97 1 0.98 1 0.9704 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.796826 NA NA 0.963107 0.993885 NA 0.986 NA 1.094293 1551 15 28361764 28361764 C T intronic HERC2 NA NA NA intronic ENSG00000128731 NA NA NA NA NA 15q13.1 NA NA NA NA rs4778247 0.84 0.84 0.813 0.790935 0.9841 0.9772 0.9481 0.385 0.8374 0.98 0.98 0.95 0.38 0.9302 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 -0.913997 NA NA 0.992326 0.502043 NA 0.775 NA 1.093374 1551 1 160722064 160722064 A G intronic SLAMF7 NA NA NA intronic ENSG00000026751 NA NA NA NA NA 1q23.3 NA NA NA NA rs527342 0.92 0.92 0.909 0.908746 0.9771 0.9683 0.964 0.7542 0.9468 0.98 0.96 0.95 0.78 0.9554 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 0.282264 NA NA 0.974535 0.806173 NA 0.935 NA 1.092965 1551 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 1551 7 36370555 36370555 G T intronic KIAA0895 NA NA NA intronic ENSG00000164542 NA NA NA NA NA 7p14.2 NA NA NA NA rs196660 0.93 0.93 0.92 0.942292 0.9702 0.9772 0.9654 0.8495 0.9867 0.96 0.98 0.97 0.8 0.9612 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 -0.797222 NA NA 0.97592 0.864223 NA 0.913 NA 1.09268 1551 18 3277237 3277237 G T intronic MYL12B NA NA NA intronic ENSG00000118680 NA NA NA NA NA 18p11.31 NA NA NA NA rs10853294 0.93 0.93 0.931 0.927516 0.9751 0.8938 0.9035 0.938 0.9162 0.98 0.88 0.93 0.93 0.952 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 0.095789 NA NA 0.980233 0.949841 NA 0.891 NA 1.092667 1551 2 55439963 55439963 C A intronic CLHC1 NA NA NA intronic ENSG00000162994 NA NA NA NA NA 2p16.1 NA NA NA NA rs2118283 0.97 0.97 0.976 0.964856 0.9682 0.9752 0.9856 0.997 0.8926 0.96 0.96 0.98 1 0.9647 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.925882 NA NA 0.976152 0.993869 NA 1 NA 1.090948 1551 5 134033777 134033777 G A intronic SEC24A NA NA NA intronic ENSG00000113615 NA NA NA NA NA 5q31.1 NA NA NA NA rs246341 0.99 0.99 0.986 0.989816 0.9682 1 0.9957 0.9992 0.9847 0.97 1 1 1 0.9769 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.218729 NA NA 0.966316 0.994256 NA 0.949 NA 1.088584 1551 9 78799566 78799566 C T intronic PCSK5 NA NA NA intronic ENSG00000099139 NA NA NA NA NA 9q21.13 NA NA NA NA rs1537183 0.98 0.98 0.987 0.98762 0.9702 1 0.9697 0.9977 0.9918 0.96 1 0.96 1 0.9769 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.807143 2.807143 NA 0.964635 0.994553 NA 0.978 NA 1.088265 1551 19 2991814 2991814 T C intronic TLE6 NA NA NA intronic ENSG00000104953 NA NA NA NA NA 19p13.3 NA NA NA NA rs428113 0.98 0.98 0.989 0.97524 0.9722 1 0.9784 0.9887 0.9325 0.97 1 0.97 0.99 0.9708 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.845487 NA NA 0.968837 0.990921 NA 0.978 NA 1.088163 1551 9 27296595 27296595 C G intronic EQTN NA NA NA intronic ENSG00000120160 NA NA NA NA NA 9p21.2 NA NA NA NA rs7044345 0.83 0.83 0.796 0.79373 0.995 0.8244 0.9481 0.4539 0.9049 1 0.81 0.96 0.49 0.925 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.667157 NA NA 0.992186 0.533606 NA 0.848 NA 1.087814 1551 8 20068163 20068163 T G intronic ATP6V1B2 NA NA NA intronic ENSG00000147416 NA NA NA NA NA 8p21.3 NA NA NA NA rs7460146 0.99 0.99 0.981 0.985823 0.9652 1 0.9928 0.9955 0.9744 0.96 1 1 1 0.9745 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.595125 NA NA 0.972558 0.993645 NA 0.942 NA 1.087742 1551 11 93803717 93803717 C G intronic HEPHL1 NA NA NA intronic ENSG00000181333 NA NA NA NA NA 11q21 NA NA NA NA rs1878799 0.8 0.8 0.767 0.789337 0.9891 0.8085 0.9524 0.4334 0.9294 0.99 0.79 0.96 0.4 0.9329 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 0.568992 NA NA 0.990732 0.556 NA 0.79 NA 1.087268 1551 1 19202770 19202770 T C intronic ALDH4A1 NA NA NA intronic ENSG00000159423,ENSG00000255275 NA NA NA NA NA 1p36.13 NA NA NA NA rs7550822 0.92 0.92 0.909 0.919529 0.9732 1 0.9524 0.7534 0.9826 0.97 1 0.94 0.75 0.9615 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.83842 NA NA 0.979535 0.784839 NA 0.899 NA 1.085765 1551 3 51895850 51895850 C T intronic IQCF2 NA NA NA intronic ENSG00000184345 NA NA NA NA NA 3p21.2 NA NA NA NA rs986539 0.89 0.89 0.869 0.873802 0.9811 0.9573 0.9308 0.6203 0.9796 0.98 0.96 0.92 0.64 0.9528 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 0.601335 NA NA 0.980814 0.688153 NA 0.862 NA 1.085286 1552 2 220250826 220250826 G A intronic DNPEP NA NA NA intronic ENSG00000123992 NA NA NA NA NA 2q35 NA NA NA NA rs2271456 0.87 0.87 0.836 0.843051 0.9861 0.9246 0.9539 0.5129 0.9796 0.99 0.93 0.96 0.53 0.9448 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 1.056654 NA NA 0.985322 0.606373 NA 0.775 NA 1.083778 1552 6 137338276 137338276 A G intronic IL20RA NA NA NA intronic ENSG00000016402 NA NA NA NA NA 6q23.3 NA NA NA NA rs433243 0.84 0.84 0.8 0.810104 0.9891 1 0.9207 0.3313 0.999 0.99 1 0.94 0.35 0.9396 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.683977 NA NA 0.989998 0.40808 NA 0.775 NA 1.081302 1552 2 206562250 206562250 C T intronic NRP2 NA NA NA intronic ENSG00000118257 NA NA NA NA NA 2q33.3 NA NA NA NA rs849558 0.91 0.91 0.895 0.891374 0.9801 0.8938 0.9222 0.7685 0.9417 0.98 0.88 0.94 0.8 0.9523 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 -0.792556 NA NA 0.986628 0.789378 NA 0.913 NA 1.080972 1552 13 49051012 49051012 C T intronic RB1 NA NA NA intronic ENSG00000139687 NA NA NA NA NA 13q14.2 NA NA NA NA rs3020646 0.91 0.91 0.903 0.884984 0.9851 0.998 0.9553 0.6346 0.954 0.99 1 0.94 0.67 0.9552 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.28672 NA NA 0.97907 0.733318 NA 0.906 NA 1.08063 1552 9 130914434 130914434 A G intronic LCN2 NA NA NA intronic ENSG00000148346 NA NA NA NA NA 9q34.11 NA NA NA NA rs2232629 0.96 0.96 0.946 0.960264 0.9791 1 0.9928 0.8797 0.9857 0.98 1 0.98 0.85 0.9707 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.227839 NA NA 0.969767 0.908534 NA 0.949 NA 1.080433 1552 2 121729490 121729490 C T intronic GLI2 NA NA NA intronic ENSG00000074047 NA NA NA NA NA 2q14.2 NA NA NA NA rs2592591 0.9 0.9 0.892 0.876597 0.9831 0.999 0.9481 0.5862 0.9826 0.99 1 0.94 0.62 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 0.877611 NA NA 0.984419 0.64503 NA 0.862 NA 1.076681 1552 19 34942872 34942872 A T intronic UBA2 NA NA NA intronic ENSG00000126261 NA NA NA NA NA 19q13.11 NA NA NA NA rs2161472 0.95 0.95 0.944 0.953874 0.9682 0.9623 0.9769 0.9009 0.9857 0.96 0.97 0.97 0.9 0.975 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 -0.480003 NA NA 0.980331 0.925182 NA 0.645 NA 1.076469 1552 6 2683439 2683439 T A intronic MYLK4 NA NA NA intronic ENSG00000145949 NA NA NA NA NA 6p25.2 NA NA NA NA rs898772 0.95 0.95 0.937 0.950679 0.9712 1 0.9755 0.8525 0.9939 0.97 1 0.96 0.84 0.9725 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.206004 NA NA 0.980233 0.879709 NA 0.891 NA 1.076067 1552 2 121729686 121729686 T C intronic GLI2 NA NA NA intronic ENSG00000074047 NA NA NA NA NA 2q14.2 NA NA NA NA rs2592590 0.9 0.9 0.884 0.876997 0.9831 0.999 0.9481 0.5877 0.9826 0.99 1 0.94 0.62 0.9572 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.011982 NA NA 0.984175 0.646458 NA 0.862 NA 1.075525 1553 7 7645535 7645535 A G intronic MIOS NA NA NA intronic ENSG00000164654 NA NA NA NA NA 7p21.3 NA NA NA NA rs10276434 0.99 0.99 0.991 0.989617 0.9682 1 0.987 1 0.9888 0.97 1 0.98 1 0.982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.820315 NA NA 0.974871 0.994167 NA 1 NA 1.074929 1553 1 162313597 162313597 T C intronic NOS1AP NA NA NA intronic ENSG00000198929 NA NA NA NA NA 1q23.3 NA NA NA NA rs347278 0.93 0.93 0.917 0.925919 0.9781 1 0.9683 0.761 0.9888 0.98 1 0.96 0.76 0.9656 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.175925 NA NA 0.981628 0.797776 NA 0.877 NA 1.074672 1553 13 48919358 48919358 T G intronic RB1 NA NA NA intronic ENSG00000139687 NA NA NA NA NA 13q14.2 NA NA NA NA rs198617 0.94 0.94 0.944 0.913738 0.9851 0.998 0.9625 0.7564 0.9315 0.99 1 0.95 0.8 0.9607 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.893401 NA NA 0.979958 0.827735 NA 0.964 NA 1.074242 1553 1 17402347 17402347 C T intronic PADI2 NA NA NA intronic ENSG00000117115 NA NA NA NA NA 1p36.13 NA NA NA NA rs2647205 0.97 0.97 0.971 0.983227 0.9732 0.996 0.9914 0.9705 0.9918 0.97 1 0.99 0.95 0.9779 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.292043 NA NA 0.974884 0.963005 NA 0.957 NA 1.074016 1553 3 148756825 148756825 G A intronic HLTF NA NA NA intronic ENSG00000071794 NA NA NA NA NA 3q24 NA NA NA NA rs6764352 0.99 0.99 0.991 0.980232 0.9791 1 0.9928 0.9992 0.9264 0.98 1 0.99 1 0.9754 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.978087 NA NA 0.971621 0.995229 NA 0.986 NA 1.073879 1553 10 17199419 17199419 C G intronic TRDMT1 NA NA NA intronic ENSG00000107614 NA NA NA NA NA 10p13 NA NA NA NA rs2295810 0.87 0.87 0.885 0.874401 0.995 0.751 0.8084 0.8729 0.9264 0.99 0.72 0.84 0.86 0.9346 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.063462 NA NA 0.997092 0.897413 NA 0.884 NA 1.073308 1553 12 78582362 78582362 T C intronic NAV3 NA NA NA intronic ENSG00000067798 NA NA NA NA NA 12q21.2 NA NA NA NA rs300513 0.95 0.95 0.934 0.942093 0.9761 1 0.9654 0.82 0.9959 0.98 1 0.98 0.81 0.9707 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.030694 NA NA 0.979946 0.849517 NA 0.928 NA 1.073254 1553 3 195492027 195492027 T C intronic MUC4 NA NA NA intronic ENSG00000145113 NA NA NA NA NA 3q29 NA NA NA NA rs11926236 0.99 0.99 0.987 0.989417 0.9771 0.999 0.9856 0.9992 0.9816 0.98 1 0.98 1 0.9789 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.544754 NA NA 0.971475 0.995201 NA 0.986 NA 1.072525 1553 2 220250322 220250322 C A intronic DNPEP NA NA NA intronic ENSG00000123992 NA NA NA NA NA 2q35 NA NA NA NA rs878437 0.89 0.89 0.876 0.871206 0.9871 0.9246 0.9654 0.612 0.9806 0.99 0.93 0.97 0.62 0.9545 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 0.307012 NA NA 0.986975 0.695827 NA 0.804 NA 1.071425 1553 8 2024207 2024207 A C intronic MYOM2 NA NA NA intronic ENSG00000036448 NA NA NA NA NA 8p23.3 NA NA NA NA rs7822836 0.96 0.96 0.963 0.950479 0.9781 0.9692 0.987 0.916 0.9233 0.98 0.98 0.98 0.9 0.9677 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 0.426308 NA NA 0.98314 0.930549 NA 0.964 NA 1.07106 1553 6 170594819 170594819 T C intronic DLL1 NA NA NA intronic ENSG00000198719 NA NA NA NA NA 6q27 NA NA NA NA rs2255020 0.98 0.98 0.977 0.978435 0.9801 1 0.987 0.9554 0.9796 0.98 1 0.98 0.96 0.9782 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16352 NA NA 0.97093 0.950522 NA 0.964 NA 1.07077 1553 2 220251178 220251178 T C intronic DNPEP NA NA NA intronic ENSG00000123992 NA NA NA NA NA 2q35 NA NA NA NA rs2271457 0.89 0.89 0.866 0.877196 0.9871 0.9246 0.9669 0.6339 0.9806 0.99 0.93 0.97 0.64 0.9559 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 0.056246 NA NA 0.986873 0.715639 NA 0.826 NA 1.070127 1553 12 78582566 78582566 A G intronic NAV3 NA NA NA intronic ENSG00000067798 NA NA NA NA NA 12q21.2 NA NA NA NA rs400289 0.95 0.95 0.942 0.948882 0.9761 1 0.9697 0.8434 0.9959 0.98 1 0.98 0.81 0.9728 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.906081 NA NA 0.981047 0.862798 NA 0.928 NA 1.070053 1553 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 1553 1 113636924 113636924 T C intronic LRIG2 NA NA NA intronic ENSG00000198799 NA NA NA NA NA 1p13.2 NA NA NA NA rs1216802 0.87 0.87 0.855 0.847444 0.9891 0.9514 0.9524 0.5045 0.9836 0.99 0.98 0.95 0.48 0.9558 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 -0.254575 NA NA 0.98655 0.619751 NA 0.841 NA 1.06855 1553 15 58853218 58853218 C T intronic LIPC NA NA NA intronic ENSG00000166035 NA NA NA NA NA 15q21.3 NA NA NA NA rs55913623 0.93 0.93 NA 0.936102 0.9861 0.9405 0.987 0.8313 0.9857 0.99 0.92 0.99 0.8 0.9685 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 0.615652 NA NA 0.977866 0.803832 NA NA NA 1.067534 1553 4 65145955 65145955 T G intronic TECRL NA NA NA intronic ENSG00000205678 NA NA NA NA NA 4q13.1 NA NA NA NA rs1483711 0.97 0.97 0.974 0.970248 0.9801 1 0.9697 0.9266 0.9888 0.98 1 0.97 0.92 0.9783 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.813236 NA NA 0.974138 0.955078 NA 0.783 NA 1.067462 1553 12 57843014 57843014 C T intronic INHBC NA NA NA intronic ENSG00000175189 NA NA NA NA NA 12q13.3 NA NA NA NA rs776037 0.86 0.86 0.838 0.846446 0.9881 0.9246 0.964 0.5076 0.9949 0.99 0.96 0.96 0.48 0.951 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 -1.005264 NA NA 0.993488 0.612801 NA 0.826 NA 1.067412 1553 9 131454120 131454120 C T intronic SET NA NA NA intronic ENSG00000119335 NA NA NA NA NA 9q34.11 NA NA NA NA rs3750330 0.87 0.87 0.824 0.846645 0.992 0.9087 0.964 0.5643 0.9315 0.99 0.89 0.96 0.58 0.947 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 0.848472 NA NA 0.993693 0.603567 NA 0.841 NA 1.067307 1553 9 131455903 131455903 C T intronic SET NA NA NA intronic ENSG00000119335 NA NA NA NA NA 9q34.11 NA NA NA NA rs4836618 0.87 0.87 0.829 0.845248 0.993 0.9097 0.9625 0.5567 0.9335 0.99 0.89 0.96 0.58 0.9465 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 -0.104305 NA NA 0.993372 0.599455 NA 0.841 NA 1.067128 1554 5 154278888 154278888 C T intronic GEMIN5 NA NA NA intronic ENSG00000082516 NA NA NA NA NA 5q33.2 NA NA NA NA rs816740 0.95 0.95 0.945 0.951078 0.9781 0.9782 0.9784 0.8729 0.9816 0.97 0.97 0.98 0.88 0.9711 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 -0.900416 NA NA 0.986512 0.886291 NA 0.935 NA 1.064288 1554 8 62416074 62416074 G A intronic ASPH NA NA NA intronic ENSG00000198363 NA NA NA NA NA 8q12.3 NA NA NA NA rs7005617 0.98 0.98 0.974 0.980232 0.9732 1 0.9755 0.9592 0.999 0.98 1 0.98 0.95 0.9828 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.511276 1.511276 NA 0.979767 0.952565 NA 1 NA 1.064233 1554 8 62438530 62438530 A G intronic ASPH NA NA NA intronic ENSG00000198363 NA NA NA NA NA 8q12.3 NA NA NA NA rs4738904 0.98 0.98 0.974 0.98103 0.9732 1 0.9813 0.9592 0.999 0.98 1 0.99 0.95 0.983 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.168559 NA NA 0.979651 0.951884 NA 1 NA 1.064149 1554 2 209209827 209209827 G A intronic PIKFYVE NA NA NA intronic ENSG00000115020 NA NA NA NA NA 2q34 NA NA NA NA rs2304544 0.94 0.94 0.921 0.910942 0.995 0.9395 0.9769 0.7867 0.9162 1 0.94 0.97 0.81 0.9595 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.111307 NA NA 0.981512 0.804812 NA 0.913 NA 1.063988 1554 2 209168853 209168853 C T intronic PIKFYVE NA NA NA intronic ENSG00000115020 NA NA NA NA NA 2q34 NA NA NA NA rs893256 0.94 0.94 0.912 0.910743 0.995 0.9395 0.9755 0.7867 0.9162 1 0.94 0.97 0.81 0.9597 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.804213 2.804213 NA 0.981628 0.802996 NA 0.913 NA 1.063672 1554 4 76804067 76804067 A G intronic PPEF2 NA NA NA intronic ENSG00000156194 NA NA NA NA NA 4q21.1 NA NA NA NA rs4859564 0.87 0.87 0.854 0.844449 0.994 0.9911 0.9467 0.4592 0.9877 0.99 1 0.95 0.47 0.9503 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.474209 NA NA 0.992326 0.536314 NA 0.833 NA 1.063374 1554 17 45905850 45905850 C T intronic MRPL10 NA NA NA intronic ENSG00000159111 NA NA NA NA NA 17q21.32 NA NA NA NA rs4793671 0.98 0.98 0.99 0.982628 0.9831 0.998 0.9121 0.9992 0.9939 0.99 1 0.93 1 0.9736 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.029893 NA NA 0.98 0.995915 NA 0.978 NA 1.0633 1554 16 815628 815628 A G intronic MSLN NA NA NA intronic ENSG00000102854 NA NA NA NA NA 16p13.3 NA NA NA NA rs1737340 0.99 0.99 0.991 0.99401 0.9781 1 0.9928 0.9992 0.998 0.98 1 0.99 1 0.9857 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.4608 NA NA 0.974059 0.994467 NA 0.957 NA 1.062141 1554 16 67221050 67221050 A G intronic EXOC3L1 NA NA NA intronic ENSG00000179044 NA NA NA NA NA 16q22.1 NA NA NA NA rs9924876 0.99 0.99 0.994 0.992412 0.9781 1 0.9841 0.9992 0.9959 0.98 1 0.98 0.99 0.984 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.498882 NA NA 0.976512 0.994768 NA 0.971 NA 1.061388 1554 2 37094945 37094945 A G intronic STRN NA NA NA intronic ENSG00000115808 NA NA NA NA NA 2p22.2 NA NA NA NA rs2540923 0.93 0.93 0.915 0.907348 0.9871 0.998 0.9553 0.6944 0.9857 0.99 1 0.96 0.73 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 1.975057 1.975057 NA 0.987063 0.741035 NA 0.942 NA 1.060937 1554 2 8916847 8916847 A T intronic KIDINS220 NA NA NA intronic ENSG00000134313 NA NA NA NA NA 2p25.1 NA NA NA NA rs4669338 0.95 0.95 0.955 0.948482 0.9901 0.9663 0.9741 0.8555 0.9949 0.99 0.96 0.97 0.85 0.9686 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 0.822615 NA NA 0.980519 0.860186 NA 0.913 NA 1.060781 1554 2 24521493 24521493 C T intronic ITSN2 NA NA NA intronic ENSG00000198399 NA NA NA NA NA 2p23.3 NA NA NA NA rs7559133 0.98 0.98 0.975 0.973243 0.9811 0.9931 0.9712 0.9675 0.954 0.98 0.99 0.98 0.96 0.9792 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 0.085107 NA NA 0.978953 0.975942 NA 0.986 NA 1.060747 1554 19 11541712 11541712 T C intronic CCDC151 NA NA NA intronic ENSG00000198003 NA NA NA NA NA 19p13.2 NA NA NA NA rs34094 0.92 0.92 0.915 0.91234 0.9851 0.8919 0.9712 0.7943 0.9765 0.99 0.91 0.98 0.8 0.9634 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 0.611461 NA NA 0.99087 0.824405 NA 0.913 NA 1.06063 1554 2 24484150 24484150 T C intronic ITSN2 NA NA NA intronic ENSG00000198399 NA NA NA NA NA 2p23.3 NA NA NA NA rs4665680 0.92 0.92 0.974 0.970847 0.9811 0.9931 0.9712 0.9607 0.9509 0.93 0.95 0.92 0.85 0.9793 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 1.605291 1.605291 NA 0.979065 0.974091 NA 0.964 NA 1.060535 1554 11 20429454 20429454 T C intronic PRMT3 NA NA NA intronic ENSG00000185238 NA NA NA NA NA 11p15.1 NA NA NA NA rs10741836 0.89 0.89 0.89 0.910144 0.995 0.6964 0.8617 0.9977 0.9591 0.99 0.66 0.87 1 0.9489 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.144682 NA NA 0.995814 0.995007 NA 0.899 NA 1.060286 1554 20 54974424 54974424 C A intronic CSTF1 NA NA NA intronic ENSG00000101138 NA NA NA NA NA 20q13.2 NA NA NA NA rs2426617 0.95 0.95 0.95 0.9377 0.9881 0.9206 0.9481 0.9402 0.8926 0.99 0.91 0.94 0.95 0.9629 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 -0.104054 NA NA 0.990116 0.951203 NA 0.928 NA 1.058884 1554 13 95673939 95673939 A G intronic ABCC4 NA NA NA intronic ENSG00000125257 NA NA NA NA NA 13q32.1 NA NA NA NA rs9524765 0.93 0.93 0.936 0.929513 0.996 0.995 0.9697 0.7761 0.9724 0.98 0.99 0.97 0.78 0.949 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -3.344834 NA NA 0.996395 0.805039 NA 0.92 NA 1.058605 1554 13 30098226 30098226 A G intronic SLC7A1 NA NA NA intronic ENSG00000139514 NA NA NA NA NA 13q12.3 NA NA NA NA rs2776958 0.96 0.96 0.957 0.937101 0.9891 0.9613 0.9496 0.8812 0.9254 0.99 0.98 0.96 0.91 0.9671 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 0.242559 NA NA 0.985233 0.891235 NA 0.957 NA 1.058567 1554 15 65624228 65624228 G C intronic IGDCC3 NA NA NA intronic ENSG00000174498 NA NA NA NA NA 15q22.31 NA NA NA NA rs686739 0.96 0.96 0.946 0.952077 0.9851 1 0.9726 0.8449 0.999 0.99 1 0.96 0.85 0.9747 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.640549 NA NA 0.98174 0.852794 NA 0.942 NA 1.05846 1554 1 22208030 22208030 C T intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs921847 0.94 0.94 0.933 0.925919 0.9891 1 0.9769 0.7632 0.9683 0.99 1 0.98 0.79 0.9688 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.797729 1.797729 NA 0.983721 0.815933 NA 0.913 NA 1.058379 1554 17 11604598 11604598 T A intronic DNAH9 NA NA NA intronic ENSG00000007174 NA NA NA NA NA 17p12 NA NA NA NA rs7214186 0.93 0.93 0.926 0.923722 0.9891 0.8998 0.9597 0.8449 0.9622 0.99 0.91 0.96 0.86 0.965 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 -0.547937 NA NA 0.987674 0.864049 NA 0.891 NA 1.058226 1554 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 1554 12 66786644 66786644 G A intronic GRIP1 NA NA NA intronic ENSG00000155974 NA NA NA NA NA 12q14.3 NA NA NA NA rs2270594 0.86 0.86 0.849 0.844249 0.997 0.9296 0.8473 0.5514 0.9928 1 0.92 0.85 0.59 0.9497 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.048739 NA NA 0.996946 0.659215 NA 0.841 NA 1.056354 1554 10 50901809 50901809 T G intronic C10orf53 NA NA NA intronic ENSG00000070748,ENSG00000178645 NA NA NA NA NA 10q11.23 NA NA NA NA rs1153797 0.9 0.9 0.891 0.903155 0.9911 0.7619 0.9683 0.8759 0.9489 0.99 0.74 0.99 0.87 0.9582 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.979905 NA NA 0.995465 0.886064 NA 0.928 NA 1.055235 1555 6 33644773 33644773 T A intronic ITPR3 NA NA NA intronic ENSG00000096433 NA NA NA NA NA 6p21.31 NA NA NA NA rs4713652 0.93 0.93 0.926 0.923922 0.9871 0.996 0.9697 0.7466 0.9918 0.99 0.99 0.96 0.75 0.9706 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 -1.005722 NA NA 0.987674 0.797322 NA 0.949 NA 1.054626 1555 19 1074064 1074064 C G intronic HMHA1 NA NA NA intronic ENSG00000180448 NA NA NA NA NA 19p13.3 NA NA NA NA rs12610818 0.99 0.99 0.985 0.989217 0.9761 1 0.9856 1 0.9796 0.98 1 0.99 1 0.9873 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.301856 NA NA 0.982047 0.997492 NA 0.993 NA 1.054553 1555 17 18194362 18194362 C T intronic TOP3A NA NA NA intronic ENSG00000177302 NA NA NA NA NA 17p11.2 NA NA NA NA rs6502645 0.99 0.99 0.993 0.993411 0.9801 1 0.987 0.9992 0.9969 0.98 1 0.99 1 0.9871 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.622668 NA NA 0.979302 0.995007 NA 0.993 NA 1.053498 1555 5 55246001 55246001 A G intronic IL6ST NA NA NA intronic ENSG00000134352 NA NA NA NA NA 5q11.2 NA NA NA NA rs4865999 0.9 0.9 0.915 0.90635 0.995 0.6935 0.902 0.9985 0.9131 0.99 0.69 0.91 1 0.9569 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.419129 NA NA 0.996224 0.995434 NA 0.949 NA 1.051876 1555 2 8910987 8910987 A T intronic KIDINS220 NA NA NA intronic ENSG00000134313 NA NA NA NA NA 2p25.1 NA NA NA NA rs12476359 0.88 0.88 0.981 0.980631 0.9901 0.9663 0.9813 0.9735 0.9949 0.88 0.88 0.93 0.84 0.9784 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 -0.879892 NA NA 0.980689 0.974609 NA 0.957 NA 1.050811 1555 1 43228189 43228189 T A intronic LEPRE1 NA NA NA intronic ENSG00000117385 NA NA NA NA NA 1p34.2 NA NA NA NA rs2816593 0.99 0.99 0.993 0.99361 0.9791 1 0.9928 0.9985 0.9959 0.97 1 1 1 0.9857 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.472743 NA NA 0.984535 0.996369 NA 0.978 NA 1.050665 1555 9 127637215 127637215 T G intronic ARPC5L NA NA NA intronic ENSG00000136950 NA NA NA NA NA 9q33.3 NA NA NA NA rs581558 0.91 0.91 0.897 0.910543 0.993 0.8234 0.9669 0.8767 0.9213 0.99 0.79 0.97 0.89 0.9613 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.062942 NA NA 0.995349 0.876759 NA 0.957 NA 1.050351 1555 4 122257942 122257942 A C intronic QRFPR NA NA NA intronic ENSG00000186867 NA NA NA NA NA 4q27 NA NA NA NA rs4558890 0.99 0.99 0.996 0.996006 0.9811 1 0.9986 1 1 0.98 1 1 1 0.988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.287927 NA NA 0.981163 0.995461 NA 0.942 NA 1.049737 1555 20 2413126 2413126 C T intronic TGM6 NA NA NA intronic ENSG00000166948 NA NA NA NA NA 20p13 NA NA NA NA rs6036467 0.96 0.96 0.993 0.995807 0.9841 1 0.9957 1 0.998 0.97 0.98 0.99 0.9 0.9868 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.203216 NA NA 0.98 0.99773 NA 0.478 NA 1.0491 1555 21 36080204 36080204 A G intronic CLIC6 NA NA NA intronic ENSG00000159212 NA NA NA NA NA 21q22.12 NA NA NA NA rs6517253 0.99 0.99 0.991 0.981829 0.9861 1 0.987 0.9486 1 0.99 1 0.99 0.97 0.9826 1 NA NA 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 0.982326 0.955515 NA 0.957 NA 1.048974 1555 2 39042639 39042639 G A intronic DHX57 NA NA NA intronic ENSG00000163214 NA NA NA NA NA 2p22.1 NA NA NA NA rs3112138 0.92 0.92 0.912 0.903554 0.9911 0.9861 0.9337 0.6936 0.9908 0.99 0.98 0.95 0.72 0.9674 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 0.030478 NA NA 0.993488 0.747617 NA 0.899 NA 1.048012 1555 17 71346750 71346750 C G intronic SDK2 NA NA NA intronic ENSG00000069188 NA NA NA NA NA 17q25.1 NA NA NA NA rs1995163 0.87 0.87 0.835 0.859026 0.999 0.8859 0.9366 0.5885 0.998 1 0.88 0.95 0.58 0.9552 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.264708 NA NA 0.99814 0.671811 NA 0.877 NA 1.04766 1555 17 71346943 71346943 A G intronic SDK2 NA NA NA intronic ENSG00000069188 NA NA NA NA NA 17q25.1 NA NA NA NA rs4969107 0.87 0.87 0.849 0.859225 0.999 0.8859 0.938 0.5885 0.998 1 0.88 0.96 0.58 0.9561 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.583885 NA NA 0.99814 0.671584 NA 0.877 NA 1.04676 1555 12 78569059 78569059 G A intronic NAV3 NA NA NA intronic ENSG00000067798 NA NA NA NA NA 12q21.2 NA NA NA NA rs2442134 0.96 0.96 0.958 0.960863 0.9841 1 0.9841 0.8722 1 0.99 1 0.99 0.86 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 1.048946 NA NA 0.988559 0.889631 NA 0.964 NA 1.046241 1555 17 71344889 71344889 C T intronic SDK2 NA NA NA intronic ENSG00000069188 NA NA NA NA NA 17q25.1 NA NA NA NA rs9905883 0.87 0.87 0.872 0.858626 0.999 0.8849 0.9366 0.5877 0.998 1 0.88 0.95 0.59 0.9568 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.221302 NA NA 0.998023 0.668407 NA 0.87 NA 1.046177 1555 11 68834968 68834968 T C intronic TPCN2 NA NA NA intronic ENSG00000162341 NA NA NA NA NA 11q13.3 NA NA NA NA rs6591368 0.91 0.91 0.908 0.898363 0.998 0.8522 0.9236 0.8162 0.9366 1 0.86 0.93 0.82 0.9577 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.643602 NA NA 0.99837 0.836364 NA 0.855 NA 1.04593 1555 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 1555 19 54188219 54188219 G A upstream MIR515-1,MIR515-2 NA NA NA upstream ENSG00000207615 NA NA NA NA NA 19q13.42 NA NA NA NA rs2060230 0.9 0.9 0.907 0.878994 0.8688 0.8562 0.8818 0.9841 0.7689 0.87 0.88 0.85 0.97 0.8738 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 -0.833163 NA NA 0.878699 0.97736 NA 0.906 NA 1.0453676 1556 7 148705221 148705221 A G intronic PDIA4 NA NA NA intronic ENSG00000155660 NA NA NA NA NA 7q36.1 NA NA NA NA rs2306172 0.89 0.89 0.875 0.894569 0.998 0.7698 0.9654 0.7995 0.9949 1 0.76 0.97 0.82 0.9611 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.697003 NA NA 0.996279 0.81911 NA 0.899 NA 1.044621 1556 1 172634734 172634734 T C intronic FASLG NA NA NA intronic ENSG00000117560 NA NA NA NA NA 1q24.3 NA NA NA NA rs2639653 0.99 0.99 0.994 0.995807 0.9831 1 0.9942 1 1 0.98 1 0.99 1 0.9905 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.117932 NA NA 0.982093 0.996369 NA 1 NA 1.044307 1556 1 46827214 46827214 A C intronic NSUN4 NA NA NA intronic ENSG00000117481 NA NA NA NA NA 1p33 NA NA NA NA rs324414 0.99 0.99 0.993 0.996605 0.9891 1 1 1 0.9939 0.99 1 1 1 0.9877 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.124531 2.124531 NA 0.979651 0.995688 NA 1 NA 1.043549 1556 8 145223191 145223191 G A intronic MROH1 NA NA NA intronic ENSG00000179832 NA NA NA NA NA 8q24.3 NA NA NA NA rs6982878 0.88 0.88 0.865 0.844449 0.997 1 0.9625 0.4327 1 1 1 0.96 0.49 0.9644 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.097109 NA NA 0.99609 0.551288 NA 0.848 NA 1.04251 1556 11 68846519 68846519 A C intronic TPCN2 NA NA NA intronic ENSG00000162341 NA NA NA NA NA 11q13.3 NA NA NA NA rs7124310 0.84 0.84 0.907 0.906949 0.998 0.8502 0.9236 0.8162 0.9826 0.88 0.81 0.88 0.76 0.9623 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.647113 NA NA 0.99837 0.836591 NA 0.884 NA 1.04133 1556 16 5125365 5125365 C T intronic ALG1 NA NA NA intronic ENSG00000033011 NA NA NA NA NA 16p13.3 NA NA NA NA rs4786590 0.95 0.95 0.944 0.942093 0.9871 1 0.9827 0.8018 0.9969 0.99 1 0.98 0.81 0.9783 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.05663 NA NA 0.993721 0.834547 NA 0.92 NA 1.040879 1556 17 3475367 3475367 T G intronic TRPV1 NA NA NA intronic ENSG00000196689,ENSG00000262304 NA NA NA NA NA 17p13.2 NA NA NA NA rs224548 0.89 0.89 0.865 0.866214 0.999 1 0.9697 0.5106 0.999 1 1 0.98 0.52 0.962 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119723 NA NA 0.998186 0.599188 NA 0.862 NA 1.040814 1556 20 18506616 18506616 T C intronic SEC23B NA NA NA intronic ENSG00000101310 NA NA NA NA NA 20p11.23 NA NA NA NA rs911115 0.91 0.91 0.911 0.900359 0.997 0.9891 0.9654 0.6884 0.9499 0.96 0.99 0.94 0.7 0.9672 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.284752 NA NA 0.995116 0.737404 NA 0.486 NA 1.040684 1556 10 112356331 112356331 G A intronic SMC3 NA NA NA intronic ENSG00000108055 NA NA NA NA NA 10q25.2 NA NA NA NA rs7075340 0.96 0.96 0.957 0.957268 0.9861 0.9692 0.9625 0.8956 0.9949 0.99 0.96 0.96 0.89 0.9793 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 0.448489 NA NA 0.99407 0.930713 NA 0.949 NA 1.04053 1556 8 145667405 145667405 C G intronic TONSL NA NA NA intronic ENSG00000160949 NA NA NA NA NA 8q24.3 NA NA NA NA rs2242264 0.93 0.93 0.927 0.941494 0.995 0.8065 0.9135 0.9758 0.999 1 0.79 0.92 0.98 0.9688 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.778067 NA NA 0.996392 0.978182 NA 0.949 NA 1.039808 1556 17 62049235 62049235 A G intronic SCN4A NA NA NA intronic ENSG00000007314 NA NA NA NA NA 17q23.3 NA NA NA NA rs9892013 0.99 0.99 0.991 0.994808 0.9871 1 0.9914 0.9992 0.9939 0.99 1 0.99 1 0.9878 1 NA NA 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 0.985472 0.99667 NA 0.993 NA 1.039628 1556 17 3475564 3475564 C T intronic TRPV1 NA NA NA intronic ENSG00000196689,ENSG00000262304 NA NA NA NA NA 17p13.2 NA NA NA NA rs224550 0.87 0.87 0.831 0.866414 0.999 1 0.9697 0.5113 0.999 0.98 0.99 0.96 0.49 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 0.078664 NA NA 0.996664 0.56119 NA 0.616 NA 1.039336 1556 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 1556 18 67860719 67860719 T C intronic RTTN NA NA NA intronic ENSG00000176225 NA NA NA NA NA 18q22.2 NA NA NA NA rs283250 0.96 0.96 0.954 0.948083 0.992 1 0.9827 0.826 0.9898 0.99 1 0.98 0.86 0.98 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.520041 NA NA 0.989924 0.85793 NA 0.884 NA 1.038076 1556 12 131471608 131471608 T C intronic GPR133 NA NA NA intronic ENSG00000111452 NA NA NA NA NA 12q24.33 NA NA NA NA rs1547577 0.94 0.94 0.926 0.926717 0.994 0.995 0.9856 0.7428 0.9939 0.99 1 0.99 0.77 0.9734 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.507385 NA NA 0.995349 0.769859 NA 0.949 NA 1.037251 1556 10 135179458 135179458 G C intronic ECHS1 NA NA NA intronic ENSG00000127884 NA NA NA NA NA 10q26.3 NA NA NA NA rs6537598 0.93 0.93 0.922 0.924321 0.995 0.9851 0.9755 0.7481 0.9908 1 0.98 0.97 0.76 0.9733 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.155293 NA NA 0.994884 0.780527 NA 0.913 NA 1.036816 1556 15 42603083 42603083 C T intronic GANC NA NA NA intronic ENSG00000214013 NA NA NA NA NA 15q15.1 NA NA NA NA rs2412694 0.91 0.91 0.895 0.884784 0.999 0.9415 0.9784 0.6747 0.9264 1 0.94 0.98 0.7 0.9661 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218039 NA NA 0.998837 0.75261 NA 0.906 NA 1.036063 1556 3 52877720 52877720 T C intronic TMEM110,TMEM110-MUSTN1 NA NA NA intronic ENSG00000213533,ENSG00000248592 NA NA NA NA NA 3p21.1 NA NA NA NA rs4687668 0.9 0.9 0.878 0.881589 0.999 1 0.951 0.5787 0.999 1 1 0.97 0.6 0.9667 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.32908 NA NA 0.998605 0.653427 NA 0.855 NA 1.035695 1556 1 145016020 145016020 T G intronic NBPF9,PDE4DIP NA NA NA intronic ENSG00000178104 NA NA NA NA NA 1q21.1 NA NA NA NA rs657162 0.94 0.94 NA 0.935104 0.999 0.9593 0.987 0.8079 0.9796 1 0.93 0.98 0.82 0.9661 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.782016 NA NA 0.999535 0.89764 NA 0.935 NA 1.035365 1557 8 10532355 10532355 T C intronic C8orf74 NA NA NA intronic ENSG00000171060 NA NA NA NA NA 8p23.1 NA NA NA NA rs4841419 0.95 0.95 0.934 0.927716 0.996 0.9474 0.9755 0.823 0.9448 1 0.95 0.98 0.84 0.9722 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.067688 NA NA 0.996969 0.838975 NA 0.935 NA 1.034831 1557 3 3170910 3170910 A G intronic TRNT1 NA NA NA intronic ENSG00000072756 NA NA NA NA NA 3p26.2 NA NA NA NA rs334772 0.92 0.92 0.905 0.899161 0.995 1 0.9669 0.6392 1 1 1 0.98 0.65 0.9718 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113754 NA NA 0.998372 0.704267 NA 0.899 NA 1.034828 1557 3 41938500 41938500 G C intronic ULK4 NA NA NA intronic ENSG00000168038 NA NA NA NA NA 3p22.1 NA NA NA NA rs1717005 0.93 0.93 0.924 0.91893 0.995 1 0.9827 0.7057 1 1 1 0.99 0.71 0.9769 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.477736 NA NA 0.994136 0.768584 NA 0.884 NA 1.033964 1557 17 8139327 8139327 A G intronic CTC1 NA NA NA intronic ENSG00000178971 NA NA NA NA NA 17p13.1 NA NA NA NA rs4791626 0.99 0.99 0.995 0.992212 0.9911 1 0.9798 0.9962 0.9888 0.99 1 0.98 0.99 0.9891 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.256927 NA NA 0.98596 0.997671 NA 0.993 NA 1.03384 1557 14 71485692 71485692 A T intronic PCNX NA NA NA intronic ENSG00000100731 NA NA NA NA NA 14q24.2 NA NA NA NA rs1859914 1 1 0.995 0.996805 0.9901 1 0.9986 1 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 1.093351 NA NA 0.987209 0.997957 NA 1 NA 1.033491 1557 3 123457711 123457711 C A intronic MYLK NA NA NA intronic ENSG00000065534 NA NA NA NA NA 3q21.1 NA NA NA NA rs2198766 0.94 0.94 0.934 0.929513 0.995 1 0.9798 0.7587 0.9847 0.99 1 0.98 0.75 0.9755 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.72429 NA NA 0.996279 0.771221 NA 0.971 NA 1.033221 1557 3 123440967 123440967 G A intronic MYLK NA NA NA intronic ENSG00000065534 NA NA NA NA NA 3q21.1 NA NA NA NA rs820355 0.93 0.93 0.92 0.913538 0.997 1 0.9683 0.6982 0.9908 1 1 0.97 0.7 0.9722 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.419432 NA NA 0.997664 0.735039 NA 0.935 NA 1.033136 1557 13 103484060 103484060 G A intronic BIVM,BIVM-ERCC5 NA NA NA intronic ENSG00000134897,ENSG00000270181 NA NA NA NA NA 13q33.1 NA NA NA NA rs2181676 0.93 0.93 0.917 0.906749 0.998 0.9722 0.9798 0.6876 0.9898 1 0.99 0.98 0.71 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 -0.705843 NA NA 0.997791 0.735815 NA 0.92 NA 1.032809 1557 4 79186171 79186171 G A intronic FRAS1 NA NA NA intronic ENSG00000138759 NA NA NA NA NA 4q21.21 NA NA NA NA rs2867014 0.93 0.93 0.934 0.922125 0.999 0.9623 0.9726 0.764 0.9796 1 0.96 0.97 0.76 0.9741 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.175844 NA NA 0.994229 0.811258 NA 0.913 NA 1.032671 1557 4 159568383 159568383 A G intronic RXFP1 NA NA NA intronic ENSG00000171509 NA NA NA NA NA 4q32.1 NA NA NA NA rs13111939 0.9 0.9 0.884 0.891773 0.999 1 0.9597 0.6127 0.999 1 1 0.97 0.59 0.9705 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.63856 NA NA 0.998024 0.696329 NA 0.906 NA 1.032476 1557 18 54354239 54354239 T C intronic WDR7 NA NA NA intronic ENSG00000091157 NA NA NA NA NA 18q21.31 NA NA NA NA rs576095 0.92 0.92 0.898 0.901358 0.998 1 0.9654 0.646 1 1 1 0.96 0.65 0.9735 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.829232 NA NA 0.996393 0.734973 NA 0.891 NA 1.032107 1557 12 9980243 9980243 A G intronic KLRF1 NA NA NA intronic ENSG00000150045 NA NA NA NA NA 12p13.31 NA NA NA NA rs2232543 0.94 0.94 0.928 0.933906 0.995 0.9067 0.9885 0.8321 0.998 0.99 0.94 0.99 0.82 0.977 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.317242 NA NA 0.996589 0.842034 NA 0.913 NA 1.031411 1557 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 1557 11 64507315 64507315 T C intronic RASGRP2 NA NA NA intronic ENSG00000068831 NA NA NA NA NA 11q13.1 NA NA NA NA rs550930 0.94 0.94 0.916 0.91234 0.997 1 0.9841 0.6785 1 1 1 0.98 0.74 0.9736 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.384873 NA NA 0.998603 0.718991 NA 0.833 NA 1.030797 1557 11 64507680 64507680 A C intronic RASGRP2 NA NA NA intronic ENSG00000068831 NA NA NA NA NA 11q13.1 NA NA NA NA rs547280 0.91 0.91 0.917 0.91234 0.997 1 0.9841 0.6785 1 0.97 0.97 0.97 0.69 0.9736 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.243303 NA NA 0.998604 0.718537 NA 0.899 NA 1.030796 1557 15 42568630 42568630 G A intronic GANC NA NA NA intronic ENSG00000214013 NA NA NA NA NA 15q15.1 NA NA NA NA rs8023678 0.93 0.93 0.917 0.906949 0.999 0.9415 0.9827 0.7564 0.9264 1 0.94 0.99 0.77 0.9713 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.355704 NA NA 0.998951 0.80332 NA 0.942 NA 1.030749 1557 18 30950168 30950168 T C intronic CCDC178 NA NA NA intronic ENSG00000166960 NA NA NA NA NA 18q12.1 NA NA NA NA rs9965655 0.92 0.92 0.902 0.901957 0.998 1 0.9683 0.6475 0.999 1 1 0.98 0.67 0.9724 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.290997 NA NA 0.999186 0.707898 NA 0.92 NA 1.030414 1557 17 62122677 62122677 G A intronic ERN1 NA NA NA intronic ENSG00000178607 NA NA NA NA NA 17q23.3 NA NA NA NA rs196917 0.92 0.92 0.902 0.909744 0.995 1 0.9669 0.6793 1 0.99 1 0.96 0.68 0.9761 1 NA NA 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 0.998685 0.739141 NA 0.913 NA 1.030215 1557 10 11789511 11789511 C G intronic ECHDC3 NA NA NA intronic ENSG00000134463 NA NA NA NA NA 10p14 NA NA NA NA rs4750092 0.93 0.93 0.918 0.913538 0.997 1 0.9741 0.6891 0.999 1 1 0.98 0.71 0.975 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.815991 NA NA 0.998256 0.740808 NA 0.891 NA 1.029744 1557 9 37426524 37426524 C T intronic GRHPR NA NA NA intronic ENSG00000137106 NA NA NA NA NA 9p13.2 NA NA NA NA rs2736664 0.94 0.94 0.926 0.919529 0.997 1 0.9553 0.7216 0.999 1 1 0.97 0.75 0.9764 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.102297 2.102297 NA 0.99686 0.776214 NA 0.906 NA 1.02974 1557 6 155571113 155571113 A G intronic TIAM2 NA NA NA intronic ENSG00000146426 NA NA NA NA NA 6q25.3 NA NA NA NA rs3011902 0.99 0.99 0.988 0.973442 0.9901 1 0.9856 0.9554 0.9448 0.99 1 0.99 0.97 0.9862 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.624709 NA NA 0.994884 0.952792 NA 0.993 NA 1.028816 1557 11 129998900 129998900 T C intronic APLP2 NA NA NA intronic ENSG00000084234 NA NA NA NA NA 11q24.3 NA NA NA NA rs651935 0.99 0.99 0.992 0.997204 0.9881 1 0.9971 1 1 0.99 1 0.99 1 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 0.19239 NA NA 0.990691 0.997955 NA 1 NA 1.028709 1557 17 4027392 4027392 G C intronic ZZEF1 NA NA NA intronic ENSG00000074755 NA NA NA NA NA 17p13.2 NA NA NA NA rs7208760 0.93 0.93 0.91 0.910144 1 1 0.9712 0.6747 1 1 1 0.98 0.73 0.9722 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.111071 NA NA 0.999302 0.702224 NA 0.906 NA 1.028498 1557 13 113888201 113888201 T C intronic CUL4A NA NA NA intronic ENSG00000139842 NA NA NA NA NA 13q34 NA NA NA NA rs2146408 0.93 0.93 0.921 0.911941 0.998 1 0.9625 0.6876 1 1 1 0.96 0.72 0.9753 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.349056 NA NA 0.998837 0.738992 NA 0.906 NA 1.027863 1557 10 127693432 127693432 C T intronic FANK1 NA NA NA intronic ENSG00000203780 NA NA NA NA NA 10q26.2 NA NA NA NA rs2138283 0.99 0.99 0.996 0.996605 0.9901 1 0.9928 1 0.998 0.99 1 0.99 1 0.9932 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.612733 NA NA 0.988953 0.997276 NA 1 NA 1.027747 1557 1 31899684 31899684 A T intronic SERINC2 NA NA NA intronic ENSG00000168528 NA NA NA NA NA 1p35.2 NA NA NA NA rs10454445 0.93 0.93 0.92 0.91254 0.997 1 0.9712 0.6861 1 1 1 0.97 0.71 0.9765 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.98039 NA NA 0.998953 0.771448 NA 0.928 NA 1.027547 1557 16 84328756 84328756 G C intronic WFDC1 NA NA NA intronic ENSG00000103175 NA NA NA NA NA 16q24.1 NA NA NA NA rs401782 0.94 0.94 0.933 0.920527 0.998 1 0.9856 0.708 1 1 1 0.98 0.75 0.9769 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.314426 NA NA 0.997907 0.760682 NA 0.942 NA 1.027193 1557 1 204409281 204409281 C G intronic PIK3C2B NA NA NA intronic ENSG00000133056 NA NA NA NA NA 1q32.1 NA NA NA NA rs3014631 0.92 0.92 0.897 0.912141 0.999 1 0.9899 0.6732 1 1 1 0.99 0.65 0.9755 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.598353 NA NA 0.998721 0.74739 NA 0.87 NA 1.026779 1557 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 1557 1 39812620 39812620 G T intronic MACF1 NA NA NA intronic ENSG00000127603 NA NA NA NA NA 1p34.3 NA NA NA NA rs2490944 0.96 0.96 0.947 0.954273 0.996 0.9405 0.9827 0.888 0.9949 1 0.95 0.98 0.88 0.9836 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.585537 NA NA 0.993953 0.903768 NA 0.942 NA 1.026447 1557 10 27405310 27405310 C G intronic YME1L1 NA NA NA intronic ENSG00000136758 NA NA NA NA NA 10p12.1 NA NA NA NA rs2480718 1 1 0.996 0.997604 0.9911 1 1 0.9992 0.998 0.99 1 1 1 0.9934 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.63327 NA NA 0.989184 0.997952 NA 0.986 NA 1.026316 1557 9 13192320 13192320 C G intronic MPDZ NA NA NA intronic ENSG00000107186 NA NA NA NA NA 9p23 NA NA NA NA rs1331676 0.98 0.98 0.987 0.965455 0.999 0.996 0.987 0.9486 0.907 1 1 0.99 0.95 0.9776 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.83415 NA NA 0.997175 0.955721 NA 0.964 NA 1.026225 1557 1 91989572 91989572 T G intronic CDC7 NA NA NA intronic ENSG00000097046 NA NA NA NA NA 1p22.2 NA NA NA NA rs488126 0.98 0.98 0.978 0.988419 1 1 0.9986 0.9569 1 1 1 1 0.93 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 -1.026022 NA NA 0.99895 0.969411 NA 0.978 NA 1.02615 1557 16 84328752 84328752 G T intronic WFDC1 NA NA NA intronic ENSG00000103175 NA NA NA NA NA 16q24.1 NA NA NA NA rs369797 0.94 0.94 0.938 0.923522 0.998 1 0.9856 0.7194 1 1 1 0.98 0.76 0.978 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.186317 NA NA 0.998023 0.771818 NA 0.942 NA 1.025977 1557 1 145585317 145585317 A G intronic NBPF10,PIAS3 NA NA NA intronic ENSG00000131788 NA NA NA NA NA 1q21.1 NA NA NA NA rs4128488 0.94 0.94 0.913 0.919928 1 1 0.9813 0.7065 1 1 1 0.98 0.73 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 2.468199 2.468199 NA 0.999302 0.763958 NA 0.906 NA 1.025798 1557 6 6174786 6174786 G C intronic F13A1 NA NA NA intronic ENSG00000124491 NA NA NA NA NA 6p25.1 NA NA NA NA rs380058 0.96 0.96 0.978 0.970847 0.999 0.9454 0.8732 0.9992 0.999 1 0.93 0.88 1 0.9763 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.37514 NA NA 0.998953 0.998638 NA 0.986 NA 1.025747 1557 10 50828506 50828506 G A intronic CHAT NA NA NA intronic ENSG00000070748 NA NA NA NA NA 10q11.23 NA NA NA NA rs1880677 0.97 0.97 0.955 0.966254 0.994 1 0.9798 0.9138 0.9642 1 1 0.97 0.89 0.9861 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.06824 NA NA 0.994186 0.928507 NA 0.964 NA 1.025714 1557 6 69759148 69759148 A T intronic BAI3 NA NA NA intronic ENSG00000135298 NA NA NA NA NA 6q12 NA NA NA NA rs618372 0.95 0.95 0.927 0.949481 0.998 0.998 0.9813 0.8374 0.9785 1 1 0.98 0.8 0.9821 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.145285 NA NA 0.99464 0.853703 NA 0.877 NA 1.02526 1558 19 54314585 54314585 G A intronic NLRP12 NA NA NA intronic ENSG00000142405 NA NA NA NA NA 19q13.42 NA NA NA NA rs6509827 0.93 0.93 0.94 0.93111 1 0.876 0.951 0.8616 0.9969 1 0.86 0.96 0.89 0.9766 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.041962 NA NA 0.99848 0.902924 NA 0.949 NA 1.02492 1558 12 21799999 21799999 G C intronic LDHB NA NA NA intronic ENSG00000111716 NA NA NA NA NA 12p12.1 NA NA NA NA rs1540405 0.95 0.95 0.951 0.932508 0.998 1 0.9914 0.7579 0.9898 1 1 0.99 0.8 0.9805 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469915 NA NA 0.997326 0.815025 NA 0.928 NA 1.024174 1558 12 21807640 21807640 G A intronic LDHB NA NA NA intronic ENSG00000111716 NA NA NA NA NA 12p12.1 NA NA NA NA rs1650315 0.95 0.95 0.945 0.932508 0.998 1 0.9914 0.7579 0.9898 1 1 0.99 0.8 0.9805 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.149236 NA NA 0.997326 0.81389 NA 0.928 NA 1.024174 1558 8 133880334 133880334 T C intronic TG NA NA NA intronic ENSG00000042832 NA NA NA NA NA 8q24.22 NA NA NA NA rs180203 0.99 0.99 0.997 0.997204 0.9901 1 0.9942 1 1 0.99 1 0.99 1 0.9949 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.453743 NA NA 0.991163 0.996823 NA 1 NA 1.023837 1558 12 53714496 53714496 A G intronic AAAS NA NA NA intronic ENSG00000094914 NA NA NA NA NA 12q13.13 NA NA NA NA rs4759231 0.93 0.93 0.915 0.932109 1 1 0.9856 0.7504 1 1 1 0.99 0.71 0.9771 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.145281 NA NA 0.99907 0.748752 NA 0.906 NA 1.02383 1558 12 53714509 53714509 T G intronic AAAS NA NA NA intronic ENSG00000094914 NA NA NA NA NA 12q13.13 NA NA NA NA rs7298879 0.93 0.93 0.917 0.932109 1 1 0.9856 0.7504 1 1 1 0.99 0.71 0.9771 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.697094 1.697094 NA 0.99907 0.748752 NA 0.906 NA 1.02383 1558 15 58837910 58837910 T C intronic LIPC NA NA NA intronic ENSG00000166035 NA NA NA NA NA 15q21.3 NA NA NA NA rs2414592 0.94 0.94 0.921 0.929712 0.998 1 0.9827 0.7443 1 1 1 0.99 0.75 0.979 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.667586 NA NA 0.999185 0.788321 NA 0.949 NA 1.023815 1558 20 17599214 17599214 T C intronic RRBP1 NA NA NA intronic ENSG00000125844 NA NA NA NA NA 20p12.1 NA NA NA NA rs2328181 0.98 0.98 0.974 0.986022 0.992 0.9931 1 0.9584 1 0.99 0.99 1 0.95 0.9917 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.595191 NA NA 0.992791 0.961643 NA 0.986 NA 1.023509 1558 19 44131297 44131297 T C intronic CADM4 NA NA NA intronic ENSG00000105767 NA NA NA NA NA 19q13.31 NA NA NA NA rs407049 1 1 0.998 0.998403 0.994 1 0.9971 1 1 1 1 1 1 0.9941 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.643353 NA NA 0.98907 0.998865 NA 0.993 NA 1.02283 1558 7 33136983 33136983 G A intronic RP9 NA NA NA intronic ENSG00000164610 NA NA NA NA NA 7p14.3 NA NA NA NA rs6462460 0.99 0.99 0.996 0.996605 0.992 1 0.9885 0.9992 1 0.99 1 0.99 1 0.9938 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.665886 NA NA 0.991512 0.998865 NA 0.978 NA 1.022688 1558 10 13276179 13276179 A G intronic UCMA NA NA NA intronic ENSG00000165623 NA NA NA NA NA 10p13 NA NA NA NA rs942418 0.97 0.97 0.962 0.964856 0.994 1 0.9942 0.8797 0.9928 0.99 1 1 0.9 0.9869 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.242063 NA NA 0.996977 0.916931 NA 0.913 NA 1.022123 1558 1 36762396 36762396 C T intronic THRAP3 NA NA NA intronic ENSG00000054118 NA NA NA NA NA 1p34.3 NA NA NA NA rs1566589 0.94 0.94 0.922 0.926118 1 0.9702 0.9741 0.7617 0.9928 1 0.98 0.97 0.76 0.9788 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.069554 NA NA 0.999186 0.825011 NA 0.928 NA 1.022014 1558 1 220789236 220789236 C T intronic MARK1 NA NA NA intronic ENSG00000116141 NA NA NA NA NA 1q41 NA NA NA NA rs2786599 0.95 0.95 0.949 0.932508 0.999 0.999 0.9755 0.7587 1 1 1 0.98 0.79 0.9797 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.976292 NA NA 0.999301 0.7775 NA 0.935 NA 1.021999 1558 13 113801843 113801843 A G intronic F10 NA NA NA intronic ENSG00000126218 NA NA NA NA NA 13q34 NA NA NA NA rs2031184 0.95 0.95 0.935 0.935703 0.999 1 0.9741 0.7708 1 1 1 0.97 0.79 0.981 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.101007 NA NA 0.998023 0.798457 NA 0.928 NA 1.021977 1558 14 50280688 50280688 T A intronic NEMF NA NA NA intronic ENSG00000165525 NA NA NA NA NA 14q21.3 NA NA NA NA rs3126195 0.94 0.94 0.936 0.932308 0.999 0.9851 0.9813 0.7655 1 1 0.98 0.98 0.78 0.9802 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.262221 1.262221 NA 0.998836 0.802315 NA 0.964 NA 1.021964 1558 11 7723683 7723683 G A intronic OVCH2 NA NA NA intronic ENSG00000183378 NA NA NA NA NA 11p15.4 NA NA NA NA rs4373911 0.93 0.93 0.922 0.929912 0.998 1 0.964 0.7549 1 1 1 0.98 0.71 0.9813 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165772 NA NA 0.998905 0.801002 NA 0.913 NA 1.021795 1558 11 2182004 2182004 A G intronic INS,INS-IGF2 NA NA NA intronic ENSG00000129965,ENSG00000254647 NA NA NA NA NA 11p15.5 NA NA NA NA rs5506 0.94 0.94 0.925 0.933906 0.999 1 0.987 0.7572 1 1 1 0.99 0.74 0.9805 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.282397 NA NA 0.99872 0.801273 NA 0.928 NA 1.02178 1558 1 155755097 155755097 G A intronic GON4L NA NA NA intronic ENSG00000116580 NA NA NA NA NA 1q22 NA NA NA NA rs822021 0.94 0.94 0.935 0.928514 1 1 0.9827 0.7383 1 1 1 0.98 0.75 0.9792 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.736198 NA NA 0.999302 0.776668 NA 0.964 NA 1.021498 1558 1 21804815 21804815 T G intronic NBPF3 NA NA NA intronic ENSG00000142794 NA NA NA NA NA 1p36.12 NA NA NA NA rs7535654 0.95 0.95 0.936 0.942093 0.998 1 0.9726 0.7965 1 1 1 0.98 0.81 0.982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.754376 NA NA 0.998953 0.812982 NA 0.942 NA 1.021047 1558 10 5471200 5471200 C T intronic NET1 NA NA NA intronic ENSG00000173848 NA NA NA NA NA 10p15.1 NA NA NA NA rs4604777 0.96 0.96 0.959 0.95028 1 0.8909 0.9928 0.913 0.9806 1 0.88 0.99 0.94 0.9805 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.549247 NA NA 0.999388 0.917849 NA 0.949 NA 1.020112 1558 2 10045147 10045147 A G intronic TAF1B NA NA NA intronic ENSG00000115750 NA NA NA NA NA 2p25.1 NA NA NA NA rs448327 0.96 0.96 0.942 0.941494 1 1 0.9885 0.7844 1 1 1 0.99 0.82 0.982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.110912 NA NA 0.997907 0.824784 NA 0.913 NA 1.020093 1558 12 123794022 123794022 T C intronic SBNO1 NA NA NA intronic ENSG00000139697 NA NA NA NA NA 12q24.31 NA NA NA NA rs6488867 0.96 0.96 0.954 0.944888 0.999 0.999 0.9813 0.8026 1 1 1 0.98 0.82 0.9832 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.587432 NA NA 0.998023 0.827962 NA 0.964 NA 1.019777 1558 1 210761462 210761462 G C intronic HHAT NA NA NA intronic ENSG00000054392 NA NA NA NA NA 1q32.2 NA NA NA NA rs4297293 0.96 0.96 0.942 0.94988 0.997 1 0.9841 0.8207 1 1 1 0.98 0.83 0.9847 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.630814 NA NA 0.998721 0.854612 NA 0.942 NA 1.019579 1558 11 20648418 20648418 C T intronic SLC6A5 NA NA NA intronic ENSG00000165970 NA NA NA NA NA 11p15.1 NA NA NA NA rs4923548 0.94 0.94 0.929 0.935304 0.999 1 0.9841 0.764 1 1 1 0.98 0.76 0.9824 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.277017 NA NA 0.99907 0.814344 NA 0.899 NA 1.01953 1558 5 180053307 180053307 A G intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA rs402647 0.95 0.95 0.936 0.941494 1 1 0.9885 0.7844 1 1 1 0.99 0.79 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 -0.103889 NA NA 0.999535 0.795506 NA 0.935 NA 1.019365 1558 1 115144703 115144703 A G intronic DENND2C NA NA NA intronic ENSG00000175984 NA NA NA NA NA 1p13.2 NA NA NA NA rs28398 1 1 0.997 0.998403 0.997 1 0.9971 0.9992 0.998 1 1 0.99 1 0.9939 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.400068 NA NA 0.989884 0.997503 NA 1 NA 1.019216 1558 11 93527219 93527219 T C intronic MED17 NA NA NA intronic ENSG00000042429 NA NA NA NA NA 11q21 NA NA NA NA rs657177 0.94 0.94 0.934 0.933107 0.999 1 0.9798 0.7579 1 1 1 0.98 0.77 0.9826 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.101613 2.101613 NA 0.999186 0.824171 NA 0.92 NA 1.019214 1558 11 8118185 8118185 C G intronic TUB NA NA NA intronic ENSG00000166402 NA NA NA NA NA 11p15.4 NA NA NA NA rs10160258 0.96 0.96 0.963 0.957268 0.999 1 0.928 0.8843 0.9898 1 1 0.95 0.88 0.9836 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.753383 NA NA 0.998254 0.89891 NA 0.978 NA 1.019146 1558 1 160093222 160093222 C T intronic ATP1A2 NA NA NA intronic ENSG00000018625 NA NA NA NA NA 1q23.2 NA NA NA NA rs2820581 0.95 0.95 0.941 0.942492 0.997 1 0.9827 0.7995 0.9918 1 1 0.99 0.8 0.9849 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.787536 NA NA 0.99907 0.852474 NA 0.978 NA 1.01903 1558 2 200173684 200173684 T G intronic SATB2 NA NA NA intronic ENSG00000119042 NA NA NA NA NA 2q33.1 NA NA NA NA rs10153730 0.94 0.94 0.932 0.930911 1 1 0.9841 0.7466 1 1 1 0.98 0.75 0.982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.975717 NA NA 0.999535 0.803223 NA 0.92 NA 1.018465 1558 10 118357490 118357490 C T intronic PNLIPRP1 NA NA NA intronic ENSG00000187021 NA NA NA NA NA 10q25.3 NA NA NA NA rs2915764 0.87 0.87 0.944 0.943291 1 1 0.9841 0.7973 0.9949 0.9 0.93 0.93 0.73 0.9824 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.761792 NA NA 0.999186 0.81389 NA 0.957 NA 1.018414 1558 15 45408710 45408710 A G intronic DUOXA2 NA NA NA intronic ENSG00000140274 NA NA NA NA NA 15q21.1 NA NA NA NA rs2554459 0.94 0.94 0.917 0.920327 1 1 0.9856 0.7057 1 1 1 0.98 0.75 0.9819 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.065081 NA NA 0.999881 0.80005 NA 0.913 NA 1.018219 1558 8 25280666 25280666 A C intronic GNRH1 NA NA NA intronic ENSG00000147437 NA NA NA NA NA 8p21.2 NA NA NA NA rs2709608 0.97 0.97 0.96 0.956669 0.999 1 0.9942 0.8495 0.9867 1 1 0.99 0.85 0.9861 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106383 NA NA 0.996693 0.878009 NA 0.935 NA 1.018207 1558 16 16205449 16205449 G A intronic ABCC1 NA NA NA intronic ENSG00000103222 NA NA NA NA NA 16p13.11 NA NA NA NA rs3851716 0.96 0.96 0.941 0.929513 1 1 0.987 0.7398 1 1 1 0.98 0.82 0.9828 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.913808 NA NA 0.999156 0.808473 NA 0.949 NA 1.018044 1558 15 72462165 72462165 A C intronic GRAMD2 NA NA NA intronic ENSG00000175318 NA NA NA NA NA 15q23 NA NA NA NA rs11072348 0.95 0.95 0.944 0.947284 0.998 1 0.9856 0.8101 0.999 1 1 0.99 0.79 0.9851 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.109066 NA NA 0.999185 0.850841 NA 0.949 NA 1.017715 1558 1 232535030 232535030 C T intronic SIPA1L2 NA NA NA intronic ENSG00000116991 NA NA NA NA NA 1q42.2 NA NA NA NA rs629939 1 1 1 0.997604 0.993 1 0.9957 1 0.998 0.99 1 1 1 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.136715 NA NA 0.993701 0.999752 NA 1 NA 1.017699 1558 10 12159647 12159647 A G intronic DHTKD1 NA NA NA intronic ENSG00000181192 NA NA NA NA NA 10p14 NA NA NA NA rs2399771 0.96 0.96 0.949 0.958466 0.999 1 0.9885 0.8495 1 1 1 0.99 0.83 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 0.800542 NA NA 0.997326 0.866773 NA 0.87 NA 1.017374 1558 1 22202109 22202109 C T intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs2501265 0.95 0.95 0.951 0.942292 1 1 0.9784 0.7935 0.999 1 1 0.98 0.81 0.9837 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.362931 NA NA 0.998953 0.827508 NA 0.942 NA 1.017347 1558 11 34678435 34678435 C G intronic EHF NA NA NA intronic ENSG00000135373 NA NA NA NA NA 11p13 NA NA NA NA rs435537 0.95 0.95 0.945 0.943291 1 1 0.9841 0.7935 1 1 1 0.99 0.79 0.9835 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.141785 NA NA 0.999186 0.829019 NA 0.746 NA 1.017314 1558 15 73002035 73002035 G A intronic BBS4 NA NA NA intronic ENSG00000140463 NA NA NA NA NA 15q24.1 NA NA NA NA rs8033604 0.95 0.95 0.939 0.942093 1 1 0.9856 0.7882 1 1 1 0.98 0.81 0.9831 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.138242 NA NA 0.999651 0.819381 NA 0.957 NA 1.017249 1558 15 72987588 72987588 G T intronic BBS4 NA NA NA intronic ENSG00000140463 NA NA NA NA NA 15q24.1 NA NA NA NA rs4777527 0.95 0.95 0.938 0.941893 1 1 0.9856 0.7874 1 1 1 0.98 0.8 0.9833 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.044926 NA NA 0.999651 0.819071 NA 0.957 NA 1.017049 1558 2 20131184 20131184 C A intronic WDR35 NA NA NA intronic ENSG00000118965 NA NA NA NA NA 2p24.1 NA NA NA NA rs1191779 0.98 0.98 0.973 0.964856 0.998 0.999 0.9784 0.8949 0.9806 1 1 1 0.9 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 -0.378242 NA NA 0.997791 0.899637 NA 0.862 NA 1.016309 1558 5 140077699 140077699 A G intronic HARS2 NA NA NA intronic ENSG00000112855 NA NA NA NA NA 5q31.3 NA NA NA NA rs2530234 0.96 0.96 0.942 0.952276 0.998 1 0.9856 0.8283 1 1 1 0.99 0.82 0.9864 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.747996 NA NA 0.999302 0.854744 NA 0.949 NA 1.016298 1558 18 57134152 57134152 A G intronic CCBE1 NA NA NA intronic ENSG00000183287 NA NA NA NA NA 18q21.32 NA NA NA NA rs4940876 0.97 0.97 0.969 0.95627 0.998 1 0.9813 0.8457 1 1 1 0.98 0.89 0.9873 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.759292 NA NA 0.998488 0.867453 NA 0.949 NA 1.016212 1558 10 51549545 51549545 G T upstream MSMB NA NA NA UTR5 ENSG00000138294 ENST00000358559:c.-40G>T NA NA NA NA 10q11.23 NA NA NA NA rs4935176 0.96 0.96 0.947 0.954073 0.999 1 0.9841 0.8351 1 1 1 0.98 0.83 0.9851 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.64078 NA NA 0.999767 0.846573 NA 0.957 NA 1.016133 1558 1 116577981 116577981 G A intronic SLC22A15 NA NA NA intronic ENSG00000163393 NA NA NA NA NA 1p13.1 NA NA NA NA rs1935828 0.97 0.97 0.96 0.960264 0.998 1 0.9856 0.8585 1 1 1 0.99 0.87 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 -0.745575 NA NA 0.997714 0.892693 NA 0.928 NA 1.016086 1558 16 85813963 85813963 C T intronic EMC8 NA NA NA intronic ENSG00000131148 NA NA NA NA NA 16q24.1 NA NA NA NA rs301165 0.96 0.96 0.957 0.954673 1 1 0.9885 0.8343 1 1 1 0.99 0.84 0.9845 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.147084 NA NA 0.999419 0.830755 NA 0.957 NA 1.016081 1558 3 129695538 129695538 C T intronic TRH NA NA NA intronic ENSG00000170893 NA NA NA NA NA 3q22.1 NA NA NA NA rs784704 0.96 0.96 0.942 0.957668 0.999 0.998 0.9741 0.8555 1 1 1 0.97 0.83 0.9868 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.873856 NA NA 0.99814 0.864957 NA 0.942 NA 1.01606 1558 11 60309947 60309947 A T intronic MS4A13 NA NA NA intronic ENSG00000204979 NA NA NA NA NA 11q12.2 NA NA NA NA rs4939400 0.95 0.95 0.935 0.943091 1 1 0.987 0.7912 1 1 1 0.99 0.77 0.9851 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.073503 NA NA 0.999185 0.842297 NA 0.942 NA 1.015715 1558 12 51135167 51135167 A G intronic DIP2B NA NA NA intronic ENSG00000066084 NA NA NA NA NA 12q13.12 NA NA NA NA rs1975351 0.96 0.96 0.954 0.952875 0.999 1 0.9813 0.8321 1 1 1 0.98 0.83 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 1.015004 NA NA 0.999419 0.85497 NA 0.978 NA 1.015681 1558 3 47539751 47539751 T C intronic ELP6 NA NA NA intronic ENSG00000163832 NA NA NA NA NA 3p21.31 NA NA NA NA rs2170814 0.96 0.96 0.951 0.957069 0.998 1 0.9827 0.848 1 1 1 0.98 0.84 0.988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.596672 NA 0.25 0.998326 0.862537 NA 0.928 NA 1.015674 1558 12 53677089 53677089 G A intronic ESPL1 NA NA NA intronic ENSG00000135476 NA NA NA NA NA 12q13.13 NA NA NA NA rs4454760 0.96 0.96 0.952 0.954473 0.999 1 0.9914 0.8328 1 1 1 1 0.84 0.9862 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.488821 NA NA 0.999302 0.859056 NA 0.942 NA 1.015498 1558 12 53677072 53677072 T G intronic ESPL1 NA NA NA intronic ENSG00000135476 NA NA NA NA NA 12q13.13 NA NA NA NA rs1609473 0.96 0.96 0.951 0.954473 0.999 1 0.9914 0.8328 1 1 1 1 0.84 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 -0.155356 NA NA 0.999302 0.859056 NA 0.942 NA 1.015398 1558 11 34226041 34226041 A G intronic ABTB2 NA NA NA intronic ENSG00000166016 NA NA NA NA NA 11p13 NA NA NA NA rs2955944 0.96 0.96 0.934 0.955072 0.999 1 0.9885 0.8366 1 1 1 0.99 0.83 0.9862 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.387276 NA NA 0.999535 0.853769 NA 0.949 NA 1.015265 1558 9 131337661 131337661 A C intronic SPTAN1 NA NA NA intronic ENSG00000197694 NA NA NA NA NA 9q34.11 NA NA NA NA rs2297769 0.97 0.97 0.959 0.951478 1 0.9474 0.9885 0.888 0.9652 1 0.96 0.99 0.91 0.9856 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.912492 NA NA 0.999186 0.909215 NA 0.957 NA 1.015214 1558 4 76725245 76725245 G T intronic USO1 NA NA NA intronic ENSG00000138768 NA NA NA NA NA 4q21.1 NA NA NA NA rs381067 0.96 0.96 0.955 0.952875 0.999 1 0.9885 0.8283 1 1 1 0.99 0.84 0.987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.133622 NA NA 0.9989 0.856989 NA 0.899 NA 1.0151 1559 12 70070942 70070942 A G intronic BEST3 NA NA NA intronic ENSG00000127325 NA NA NA NA NA 12q15 NA NA NA NA rs710718 0.95 0.95 0.95 0.945887 1 1 0.9755 0.8079 1 1 1 0.96 0.81 0.9864 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.027475 NA NA 0.998784 0.844927 NA 0.949 NA 1.014816 1559 3 98541012 98541012 G A intronic DCBLD2 NA NA NA intronic ENSG00000057019 NA NA NA NA NA 3q12.1 NA NA NA NA rs866873 0.96 0.96 0.951 0.957468 0.998 0.9812 0.9942 0.8601 0.9969 1 0.97 1 0.85 0.9886 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22543 NA NA 0.998744 0.896689 NA 0.978 NA 1.014656 1559 16 845901 845901 T C intronic CHTF18 NA NA NA intronic ENSG00000127586 NA NA NA NA NA 16p13.3 NA NA NA NA rs2982244 1 1 1 0.999201 0.996 1 1 1 1 1 1 1 1 0.9963 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.119196 NA NA 0.993044 0.999527 NA 0.87 NA 1.014656 1559 20 13698006 13698006 T C intronic ESF1 NA NA NA intronic ENSG00000089048 NA NA NA NA NA 20p12.1 NA NA NA NA rs4239710 0.98 0.98 0.982 0.973243 0.994 1 0.9914 0.9077 1 0.99 1 0.99 0.92 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 -0.212116 NA NA 0.99907 0.921925 NA 0.993 NA 1.01463 1559 1 208213125 208213125 A G intronic PLXNA2 NA NA NA intronic ENSG00000076356 NA NA NA NA NA 1q32.2 NA NA NA NA rs1751580 0.96 0.96 0.953 0.954273 0.999 1 0.9885 0.8336 1 1 1 0.99 0.84 0.9871 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.025323 NA NA 0.999767 0.867453 NA 0.942 NA 1.014133 1559 10 7846152 7846152 T C intronic ATP5C1 NA NA NA intronic ENSG00000165629 NA NA NA NA NA 10p14 NA NA NA NA rs914609 0.96 0.96 0.947 0.946486 0.999 1 0.9914 0.8041 0.998 1 1 0.99 0.83 0.9877 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.257912 NA NA 0.999247 0.852169 NA 0.942 NA 1.014053 1559 6 52697834 52697834 C A intronic GSTA5 NA NA NA intronic ENSG00000182793 NA NA NA NA NA 6p12.2 NA NA NA NA rs4715346 0.97 0.97 0.965 0.959465 1 1 0.987 0.8533 1 1 1 0.99 0.86 0.9873 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.060978 NA NA 0.99872 0.871766 NA 0.971 NA 1.01398 1559 15 53998314 53998314 G T intronic WDR72 NA NA NA intronic ENSG00000166415 NA NA NA NA NA 15q21.3 NA NA NA NA rs690235 0.95 0.95 0.951 0.95028 1 1 0.9784 0.823 1 1 1 0.98 0.81 0.9862 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.597783 NA NA 0.999884 0.857926 NA 0.906 NA 1.013916 1559 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 1559 11 117332352 117332352 A G intronic DSCAML1 NA NA NA intronic ENSG00000177103 NA NA NA NA NA 11q23.3 NA NA NA NA rs588048 0.98 0.98 0.984 0.98722 0.994 0.9603 0.9769 1 0.998 0.99 0.95 0.99 1 0.993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.745173 NA NA 0.999534 0.999091 NA 1 NA 1.013466 1559 4 151829659 151829659 T C intronic LRBA NA NA NA intronic ENSG00000198589 NA NA NA NA NA 4q31.3 NA NA NA NA rs1201207 0.97 0.97 0.966 0.959465 1 0.998 0.9885 0.8563 0.9969 1 1 0.99 0.89 0.9874 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.673359 NA NA 0.999186 0.866546 NA 0.949 NA 1.013414 1559 17 4439501 4439501 C G intronic SPNS2 NA NA NA intronic ENSG00000183018 NA NA NA NA NA 17p13.2 NA NA NA NA rs1076071 0.96 0.96 0.939 0.961861 1 1 0.9856 0.8835 0.9724 1 1 0.98 0.85 0.9876 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.606296 1.606296 NA 0.99902 0.914486 NA 0.572 NA 1.01338 1559 12 41946453 41946453 T C intronic PDZRN4 NA NA NA intronic ENSG00000165966 NA NA NA NA NA 12q12 NA NA NA NA rs285585 0.99 0.99 0.996 0.997204 0.992 1 0.9914 1 1 0.99 1 0.99 1 0.998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.617086 1.617086 NA 0.996628 0.999773 NA 1 NA 1.013372 1559 5 149644597 149644597 T G intronic CAMK2A NA NA NA intronic ENSG00000070808 NA NA NA NA NA 5q32 NA NA NA NA rs891938 1 1 0.997 0.999002 0.998 0.999 0.9986 0.9992 1 1 1 1 1 0.9967 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.63952 NA NA 0.992219 0.998732 NA 0.993 NA 1.013081 1559 3 50609123 50609123 T C intronic HEMK1 NA NA NA intronic ENSG00000114735 NA NA NA NA NA 3p21.2 NA NA NA NA rs636168 0.96 0.96 0.956 0.955671 1 1 0.9827 0.8411 1 1 1 0.99 0.83 0.9872 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.743383 3.743383 NA 0.999767 0.86246 NA 0.935 NA 1.013033 1559 1 22205466 22205466 T C intronic HSPG2 NA NA NA intronic ENSG00000142798 NA NA NA NA NA 1p36.12 NA NA NA NA rs2454293 0.97 0.97 0.945 0.959465 1 1 0.9899 0.8525 0.999 1 1 0.99 0.86 0.9878 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.570982 NA NA 0.999302 0.888738 NA 0.92 NA 1.012898 1559 1 156536133 156536133 A G intronic IQGAP3 NA NA NA intronic ENSG00000183856 NA NA NA NA NA 1q23.1 NA NA NA NA rs4382715 0.97 0.97 0.965 0.959864 1 1 0.9885 0.854 1 1 1 0.99 0.88 0.9876 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.18882 NA NA 0.999535 0.87517 NA 0.971 NA 1.012865 1559 14 78018614 78018614 C T intronic SPTLC2 NA NA NA intronic ENSG00000100596 NA NA NA NA NA 14q24.3 NA NA NA NA rs2178876 0.95 0.95 0.94 0.948283 1 1 0.9885 0.8101 1 1 1 0.99 0.79 0.9876 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.717209 NA NA 0.999535 0.871539 NA 0.949 NA 1.012865 1559 5 180047863 180047863 C G intronic FLT4 NA NA NA intronic ENSG00000037280 NA NA NA NA NA 5q35.3 NA NA NA NA rs423086 0.97 0.97 0.961 0.960064 1 1 0.9942 0.8517 1 1 1 0.99 0.86 0.9876 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.821314 NA NA 0.999651 0.862335 NA 0.964 NA 1.012749 1559 2 143787274 143787274 C T intronic KYNU NA NA NA intronic ENSG00000115919 NA NA NA NA NA 2q22.2 NA NA NA NA rs6430000 0.98 0.98 0.973 0.976038 1 0.9663 0.9496 0.966 0.9939 1 0.96 0.96 0.97 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 1.706614 1.706614 NA 0.999186 0.976623 NA 0.978 NA 1.012414 1559 2 116497479 116497479 A G intronic DPP10 NA NA NA intronic ENSG00000175497 NA NA NA NA NA 2q14.1 NA NA NA NA rs1550854 0.96 0.96 0.95 0.954872 1 1 0.9899 0.8343 1 1 1 0.99 0.84 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 0.450347 NA NA 0.999767 0.870177 NA 0.949 NA 1.012333 1559 14 50241258 50241258 A C intronic KLHDC2 NA NA NA intronic ENSG00000165516 NA NA NA NA NA 14q21.3 NA NA NA NA rs4499141 0.96 0.96 0.959 0.95607 1 1 0.987 0.8404 1 1 1 0.99 0.85 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 0.462801 NA NA 0.999302 0.881979 NA 0.978 NA 1.012298 1559 1 111778241 111778241 C T intronic CHI3L2 NA NA NA intronic ENSG00000064886 NA NA NA NA NA 1p13.3 NA NA NA NA rs2764544 0.96 0.96 0.963 0.961262 0.999 1 0.987 0.8608 1 1 1 0.98 0.86 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 0.528556 NA NA 0.999535 0.88493 NA 0.957 NA 1.012265 1559 6 99853866 99853866 G A intronic PNISR NA NA NA intronic ENSG00000132424 NA NA NA NA NA 6q16.2 NA NA NA NA rs7744072 0.97 0.97 0.963 0.96226 0.999 1 0.9899 0.8631 1 1 1 0.99 0.87 0.9889 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113823 NA NA 0.999884 0.871539 NA 0.942 NA 1.012216 1559 17 67293535 67293535 A G intronic ABCA5 NA NA NA intronic ENSG00000154265 NA NA NA NA NA 17q24.3 NA NA NA NA rs487382 0.96 0.96 0.95 0.95647 1 1 0.987 0.8419 1 1 1 0.98 0.83 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 0.67555 NA NA 0.999533 0.877732 NA 0.935 NA 1.012067 1559 11 64088435 64088435 A G intronic PRDX5 NA NA NA intronic ENSG00000126432 NA NA NA NA NA 11q13.1 NA NA NA NA rs566049 0.97 0.97 0.964 0.958866 1 1 0.9856 0.8517 1 1 1 0.98 0.88 0.9888 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.005656 NA NA 0.999302 0.876193 NA 0.986 NA 1.011898 1559 12 56822641 56822641 G C intronic TIMELESS NA NA NA intronic ENSG00000111602 NA NA NA NA NA 12q13.3 NA NA NA NA rs774028 0.97 0.97 0.959 0.964657 1 1 0.9885 0.8722 1 1 1 0.98 0.87 0.9886 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106052 NA NA 0.999535 0.884249 NA 0.949 NA 1.011865 1559 5 137420376 137420376 T C intronic WNT8A NA NA NA intronic ENSG00000061492 NA NA NA NA NA 5q31.2 NA NA NA NA rs4835762 0.98 0.98 0.983 0.976438 0.996 1 0.9942 0.9168 1 1 1 0.99 0.94 0.9931 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.324707 2.324707 NA 0.999047 0.936041 NA 0.978 NA 1.011853 1559 11 47364762 47364762 A G intronic MYBPC3 NA NA NA intronic ENSG00000134571 NA NA NA NA NA 11p11.2 NA NA NA NA rs896818 0.97 0.97 0.966 0.964058 1 1 0.9827 0.8729 1 1 1 0.98 0.9 0.9901 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.621483 NA NA 0.998175 0.895833 NA 0.964 NA 1.011725 1559 14 50251888 50251888 C T intronic NEMF NA NA NA intronic ENSG00000165525 NA NA NA NA NA 14q21.3 NA NA NA NA rs8009346 0.97 0.97 0.961 0.958067 1 1 0.9899 0.8464 1 1 1 0.99 0.86 0.9893 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.896126 NA NA 0.999302 0.888334 NA 0.978 NA 1.011398 1559 12 21789968 21789968 G T intronic LDHB NA NA NA intronic ENSG00000111716 NA NA NA NA NA 12p12.1 NA NA NA NA rs1677134 0.98 0.98 0.973 0.964856 0.999 1 0.9971 0.8691 1 1 1 1 0.9 0.9907 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.035769 NA NA 0.998953 0.904222 NA 0.964 NA 1.011347 1559 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 1559 1 154459197 154459197 C G intronic SHE NA NA NA intronic ENSG00000169291 NA NA NA NA NA 1q21.3 NA NA NA NA rs4845633 0.97 0.97 0.964 0.961062 1 1 0.9928 0.8563 1 1 1 0.99 0.87 0.9889 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.254234 NA NA 0.999767 0.879256 NA 0.949 NA 1.011333 1559 2 118706879 118706879 A G intronic CCDC93 NA NA NA intronic ENSG00000125633 NA NA NA NA NA 2q14.1 NA NA NA NA rs1035598 0.97 0.97 0.965 0.966653 0.999 0.999 0.9899 0.8805 1 1 1 0.99 0.87 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 0.089993 NA NA 0.999767 0.893327 NA 0.971 NA 1.011333 1559 15 34537435 34537435 C T intronic SLC12A6 NA NA NA intronic ENSG00000140199 NA NA NA NA NA 15q14 NA NA NA NA rs4371122 0.97 0.97 0.968 0.967053 1 1 0.9813 0.885 1 1 1 0.98 0.89 0.9893 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.146951 NA NA 0.999418 0.887097 NA 0.986 NA 1.011282 1559 12 25147300 25147300 G C intronic C12orf77 NA NA NA intronic ENSG00000226397 NA NA NA NA NA 12p12.1 NA NA NA NA rs699030 0.97 0.97 0.96 0.961661 1 1 0.9914 0.8593 1 1 1 0.99 0.87 0.989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.141991 NA NA 0.999877 0.884658 NA 0.957 NA 1.011123 1559 1 16731646 16731646 T C intronic SPATA21 NA NA NA intronic ENSG00000187144 NA NA NA NA NA 1p36.13 NA NA NA NA rs3106498 0.94 0.94 0.945 0.961062 1 1 0.9841 0.8608 1 0.97 0.97 0.97 0.82 0.9895 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.43622 NA NA 0.999418 0.88493 NA 0.5 NA 1.011082 1559 19 8191323 8191323 T C intronic FBN3 NA NA NA intronic ENSG00000142449 NA NA NA NA NA 19p13.2 NA NA NA NA rs7260558 0.99 0.99 0.996 0.990216 0.997 0.9772 0.9986 0.997 0.9816 1 0.98 1 0.99 0.9936 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.606163 NA NA 0.998486 0.996355 NA 0.993 NA 1.010914 1559 16 28618238 28618238 A G intronic SULT1A1 NA NA NA intronic ENSG00000196502 NA NA NA NA NA 16p11.2 NA NA NA NA rs7499134 0.96 0.96 0.974 0.968251 1 1 0.9928 0.8835 1 0.98 1 0.97 0.88 0.9896 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.679167 NA NA 0.999535 0.893264 NA 0.797 NA 1.010865 1559 14 104573690 104573690 A G intronic ASPG NA NA NA intronic ENSG00000166183 NA NA NA NA NA 14q32.33 NA NA NA NA rs1744301 0.97 0.97 0.961 0.967851 1 1 0.9914 0.8828 1 1 1 0.99 0.87 0.9905 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.446527 NA NA 0.998693 0.890618 NA 0.971 NA 1.010807 1559 17 1516480 1516480 T C intronic SLC43A2 NA NA NA intronic ENSG00000167703 NA NA NA NA NA 17p13.3 NA NA NA NA rs7219369 0.96 0.96 0.955 0.96226 1 1 0.987 0.8638 1 1 1 0.99 0.84 0.9895 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.035519 NA NA 0.999767 0.888334 NA 0.986 NA 1.010733 1559 8 41529856 41529856 A G intronic ANK1 NA NA NA intronic ENSG00000029534 NA NA NA NA NA 8p11.21 NA NA NA NA rs508112 0.98 0.98 0.976 0.977636 0.998 1 0.9942 0.9198 1 1 1 0.99 0.92 0.9921 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.39629 NA NA 0.999419 0.919428 NA 0.971 NA 1.010481 1559 2 214228792 214228792 C T intronic SPAG16 NA NA NA intronic ENSG00000144451 NA NA NA NA NA 2q34 NA NA NA NA rs12469417 0.98 0.98 0.971 0.976038 0.998 1 0.9885 0.9168 1 1 1 0.99 0.9 0.992 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.349429 NA NA 0.99953 0.919213 NA 0.833 NA 1.01047 1559 5 176940871 176940871 G C intronic DDX41 NA NA NA intronic ENSG00000183258 NA NA NA NA NA 5q35.3 NA NA NA NA rs335439 0.98 0.98 0.968 0.970647 0.999 1 0.9928 0.8933 1 1 1 0.99 0.9 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 1.194434 NA NA 0.999767 0.902544 NA 0.971 NA 1.010433 1559 11 67800494 67800494 T G intronic NDUFS8 NA NA NA intronic ENSG00000110717 NA NA NA NA NA 11q13.2 NA NA NA NA rs3115545 0.98 0.98 0.973 0.96865 0.998 1 0.9885 0.8888 1 1 1 0.99 0.9 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 -0.772238 NA NA 0.999418 0.927045 NA 0.942 NA 1.010282 1559 11 33773161 33773161 G C intronic FBXO3 NA NA NA intronic ENSG00000110429 NA NA NA NA NA 11p13 NA NA NA NA rs7479064 0.97 0.97 0.966 0.968051 1 1 0.9914 0.8858 0.9969 1 1 0.99 0.89 0.9907 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.592139 NA NA 0.999069 0.907088 NA 0.964 NA 1.010231 1559 4 110737549 110737549 G A intronic GAR1 NA NA NA intronic ENSG00000109534 NA NA NA NA NA 4q25 NA NA NA NA rs6828254 0.98 0.98 0.979 0.984824 0.998 1 0.9899 0.9493 1 1 1 0.99 0.93 0.9938 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.027065 NA NA 0.998023 0.94394 NA 0.964 NA 1.010177 1559 9 133987060 133987060 G A intronic AIF1L NA NA NA intronic ENSG00000126878 NA NA NA NA NA 9q34.12 NA NA NA NA rs353525 0.98 0.98 0.965 0.970847 1 1 0.987 0.8964 1 1 1 0.98 0.91 0.9905 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.733243 NA NA 0.999419 0.899682 NA 0.957 NA 1.010081 1559 11 70349061 70349061 A G intronic SHANK2 NA NA NA intronic ENSG00000162105 NA NA NA NA NA 11q13.3 NA NA NA NA rs7110158 0.97 0.97 0.965 0.967652 0.999 1 0.9856 0.8858 1 1 1 0.98 0.9 0.9912 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.596263 NA NA 0.999767 0.903636 NA 0.891 NA 1.010033 1559 7 99293475 99293475 T A intronic CYP3A7-CYP3AP1 NA NA NA intergenic ENSG00000106258,ENSG00000160870 dist=15854;dist=9192 NA NA NA NA 7q22.1 NA NA NA NA rs2740565 0.71 0.71 0.681 0.646565 0.9274 0.7133 0.8012 0.3109 0.6329 0.93 0.72 0.78 0.32 0.8149 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 -0.222414 NA NA 0.914365 0.428082 NA 0.688 NA 1.0100017 1559 4 84223461 84223461 G C intronic HPSE NA NA NA intronic ENSG00000173083 NA NA NA NA NA 4q21.23 NA NA NA NA rs4285078 0.98 0.98 0.983 0.976038 0.998 1 0.9841 0.9191 1 1 1 0.98 0.91 0.9933 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.082406 NA NA 0.998721 0.930776 NA 0.957 NA 1.009979 1559 11 67799731 67799731 C G intronic NDUFS8 NA NA NA intronic ENSG00000110717 NA NA NA NA NA 11q13.2 NA NA NA NA rs3133266 0.98 0.98 0.971 0.970248 0.998 1 0.9885 0.8949 1 1 1 0.99 0.9 0.9927 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.5495 NA NA 0.999418 0.926818 NA 0.949 NA 1.009882 1559 9 131347165 131347165 G A intronic SPTAN1 NA NA NA intronic ENSG00000197694 NA NA NA NA NA 9q34.11 NA NA NA NA rs4836615 0.98 0.98 0.974 0.96905 1 1 0.9899 0.888 1 1 1 0.99 0.91 0.991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.82853 NA NA 0.999651 0.909669 NA 0.957 NA 1.009349 1559 13 43839494 43839494 G A intronic ENOX1 NA NA NA intronic ENSG00000120658 NA NA NA NA NA 13q14.11 NA NA NA NA rs4306408 0.98 0.98 0.969 0.967452 1 1 0.9928 0.8805 1 1 1 1 0.9 0.9909 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5.240162 5.240162 NA 0.999767 0.898094 NA 0.964 NA 1.009333 1559 9 131374165 131374165 C G intronic SPTAN1 NA NA NA intronic ENSG00000197694 NA NA NA NA NA 9q34.11 NA NA NA NA rs7024498 0.97 0.97 0.975 0.968251 1 1 0.9885 0.8858 1 1 1 0.98 0.9 0.9911 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.020858 NA NA 0.999651 0.908761 NA 0.942 NA 1.009249 1559 1 156539154 156539154 T C intronic IQGAP3 NA NA NA intronic ENSG00000183856 NA NA NA NA NA 1q23.1 NA NA NA NA rs6427319 0.99 0.99 0.992 0.990815 0.998 1 1 0.9667 1 1 1 1 0.97 0.9954 1 NA NA 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 0.997442 0.972991 NA 1 NA 1.009158 1559 4 187530313 187530313 C T intronic FAT1 NA NA NA intronic ENSG00000083857 NA NA NA NA NA 4q35.2 NA NA NA NA rs4862722 1 1 1 0.999601 0.999 1 0.9986 1 1 1 1 1 1 0.9961 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.609352 NA NA 0.995742 0.998794 NA 1 NA 1.009158 1559 10 32311969 32311969 A G intronic KIF5B NA NA NA intronic ENSG00000170759 NA NA NA NA NA 10p11.22 NA NA NA NA rs176924 0.98 0.98 0.967 0.967053 1 1 0.9914 0.8797 1 1 1 0.99 0.9 0.9914 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.13589 NA NA 0.999651 0.905356 NA 0.942 NA 1.008949 1559 8 86171816 86171816 A G intronic CA13 NA NA NA intronic ENSG00000185015 NA NA NA NA NA 8q21.2 NA NA NA NA rs4739699 1 1 0.999 0.998003 0.995 1 0.9971 1 0.9969 1 1 1 1 0.9983 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.676512 NA NA 0.997791 0.999773 NA 1 NA 1.008909 1559 4 79443774 79443774 T A intronic FRAS1 NA NA NA intronic ENSG00000138759 NA NA NA NA NA 4q21.21 NA NA NA NA rs931604 0.99 0.99 0.993 0.983626 0.999 1 0.9942 0.9418 1 1 1 0.99 0.97 0.9946 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.11423 NA NA 0.99757 0.966012 NA 0.986 NA 1.00883 1559 2 173659913 173659913 T C intronic RAPGEF4 NA NA NA intronic ENSG00000091428 NA NA NA NA NA 2q31.1 NA NA NA NA rs7585729 0.98 0.98 0.983 0.970248 1 1 0.9827 0.8964 1 1 1 0.98 0.93 0.9917 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.166736 NA NA 0.999509 0.90949 NA 0.978 NA 1.008791 1559 8 11687938 11687938 G C intronic FDFT1 NA NA NA intronic ENSG00000079459 NA NA NA NA NA 8p23.1 NA NA NA NA rs1293313 0.97 0.97 0.96 0.970048 1 1 0.9899 0.8933 0.998 1 1 0.99 0.88 0.9915 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.215278 NA NA 0.999767 0.913527 NA 0.986 NA 1.008733 1559 15 78786410 78786410 A C intronic IREB2 NA NA NA intronic ENSG00000136381 NA NA NA NA NA 15q25.1 NA NA NA NA rs4887060 0.98 0.98 0.977 0.976438 1 1 0.9971 0.9123 1 1 1 1 0.91 0.9915 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.197937 NA NA 0.999767 0.899499 NA 0.957 NA 1.008733 1559 12 57581028 57581028 C G intronic LRP1 NA NA NA intronic ENSG00000123384 NA NA NA NA NA 12q13.3 NA NA NA NA rs6581127 0.98 0.98 0.98 0.97504 1 1 0.9928 0.9092 1 1 1 0.99 0.91 0.9916 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.74147 NA NA 0.999767 0.908761 NA 0.978 NA 1.008633 1559 9 131585994 131585994 T C intronic C9orf114 NA NA NA intronic ENSG00000198917 NA NA NA NA NA 9q34.11 NA NA NA NA rs2997918 1 1 0.025 0.977835 1 1 0.9914 0.9206 1 1 1 1 0.99 0.9918 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.645073 NA NA 0.99965 0.934078 NA 0.848 NA 1.00855 1559 2 24475205 24475205 T C intronic ITSN2 NA NA NA intronic ENSG00000198399 NA NA NA NA NA 2p23.3 NA NA NA NA rs4450560 1 1 0.999 0.998203 0.995 1 1 0.9985 0.998 0.99 1 1 1 0.9984 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.218939 NA NA 0.99814 1 NA 1 NA 1.00846 1559 5 58489384 58489384 G A intronic PDE4D NA NA NA intronic ENSG00000113448 NA NA NA NA NA 5q11.2 NA NA NA NA rs27175 0.98 0.98 0.971 0.976038 1 0.8869 1 1 0.9939 1 0.91 1 1 0.9916 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.512537 NA NA 1 0.999197 NA 0.986 NA 1.0084 1559 4 54245476 54245476 A T intronic FIP1L1 NA NA NA intronic ENSG00000145216 NA NA NA NA NA 4q12 NA NA NA NA rs1471596 0.98 0.98 0.97 0.972444 1 1 0.9942 0.9024 0.9949 1 1 0.99 0.9 0.992 1 NA NA 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 0.999651 0.918747 NA 0.986 NA 1.008349 1559 3 440088 440088 T A intronic CHL1 NA NA NA intronic ENSG00000134121 NA NA NA NA NA 3p26.3 NA NA NA NA rs6771803 0.97 0.97 0.957 0.96905 1 1 0.9899 0.888 1 1 1 0.99 0.88 0.9917 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.811449 1.811449 NA 1 0.917839 NA 0.906 NA 1.0083 1559 9 20978312 20978312 A G intronic FOCAD NA NA NA intronic ENSG00000188352 NA NA NA NA NA 9p21.3 NA NA NA NA rs4977616 0.97 0.97 0.97 0.971845 1 1 0.9914 0.8986 0.999 1 1 0.99 0.88 0.9919 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114248 NA NA 0.999884 0.914435 NA 0.942 NA 1.008216 1559 16 89760552 89760552 T C intronic CDK10 NA NA NA intronic ENSG00000185324 NA NA NA NA NA 16q24.3 NA NA NA NA rs460057 0.98 0.98 0.98 0.981829 0.999 1 0.987 0.9395 0.999 1 1 0.99 0.93 0.9939 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.947274 NA NA 0.998953 0.948362 NA 0.986 NA 1.008147 1559 16 16200756 16200756 C T intronic ABCC1 NA NA NA intronic ENSG00000103222 NA NA NA NA NA 16p13.11 NA NA NA NA rs11075296 0.98 0.98 0.967 0.967252 1 1 0.9914 0.8805 1 1 1 0.99 0.91 0.9919 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.350821 NA NA 1 0.919538 NA 0.986 NA 1.0081 1559 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 1559 7 83031907 83031907 T C intronic SEMA3E NA NA NA intronic ENSG00000170381 NA NA NA NA NA 7q21.11 NA NA NA NA rs2709930 0.98 0.98 0.974 0.973243 1 1 0.9957 0.9009 1 1 1 1 0.91 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 -1.096002 NA NA 0.999767 0.91242 NA 0.935 NA 1.007933 1559 12 66786073 66786073 A G intronic GRIP1 NA NA NA intronic ENSG00000155974 NA NA NA NA NA 12q14.3 NA NA NA NA rs7970076 0.98 0.98 0.974 0.974641 0.999 1 0.9841 0.913 1 1 1 0.98 0.92 0.9939 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.050662 NA NA 0.99928 0.934447 NA 0.986 NA 1.00782 1559 14 106361564 106361564 A T intergenic ELK2AP,KIAA0125 dist=222420;dist=22274 NA NA ncRNA_intronic ENSG00000244620 NA NA NA NA NA 14q32.33 NA NA NA NA rs61993633 NA NA NA 0.989816 1 1 0.9957 0.9637 1 NA NA NA NA 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 -0.161864 NA NA 0.998093 0.950689 NA NA NA 1.007707 1559 14 106361562 106361562 C T intergenic ELK2AP,KIAA0125 dist=222418;dist=22276 NA NA ncRNA_intronic ENSG00000244620 NA NA NA NA NA 14q32.33 NA NA NA NA rs61993632 0.9 0.9 NA 0.989816 1 1 0.9957 0.9637 1 0.88 0.93 0.94 0.86 0.9944 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.353859 NA NA 0.99797 0.949684 NA NA NA 1.00763 1559 4 144456124 144456124 A G intronic SMARCA5 NA NA NA intronic ENSG00000153147 NA NA NA NA NA 4q31.21 NA NA NA NA rs6818251 0.98 0.98 0.969 0.974441 0.999 1 0.9928 0.9077 1 1 1 1 0.9 0.9934 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.300031 NA NA 1 0.928053 NA 0.964 NA 1.0076 1559 9 134386675 134386675 T G intronic POMT1 NA NA NA intronic ENSG00000130714 NA NA NA NA NA 9q34.13 NA NA NA NA rs4740163 0.98 0.98 0.979 0.98123 1 1 0.9914 0.9334 1 1 1 0.99 0.93 0.9931 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.370128 NA NA 0.999419 0.929187 NA 0.971 NA 1.007481 1559 10 394714 394714 G A intronic DIP2C NA NA NA intronic ENSG00000151240 NA NA NA NA NA 10p15.3 NA NA NA NA rs4880610 0.98 0.98 0.986 0.980631 1 1 0.9942 0.9297 1 1 1 1 0.92 0.9931 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.285913 NA NA 0.999419 0.931003 NA 0.971 NA 1.007481 1559 10 95279653 95279653 A G intronic CEP55 NA NA NA intronic ENSG00000138180 NA NA NA NA NA 10q23.33 NA NA NA NA rs7068719 0.98 0.98 0.975 0.978634 0.999 1 0.9914 0.9251 0.999 1 1 0.99 0.93 0.9938 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.656993 NA NA 0.999749 0.930365 NA 0.964 NA 1.007451 1559 1 109545046 109545046 C T intronic WDR47 NA NA NA intronic ENSG00000085433 NA NA NA NA NA 1p13.3 NA NA NA NA rs184606 0.98 0.98 0.976 0.98143 1 1 0.9971 0.9312 1 1 1 1 0.92 0.9934 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.556862 NA NA 0.999184 0.952327 NA 0.819 NA 1.007416 1559 10 69935235 69935235 T C intronic MYPN NA NA NA intronic ENSG00000138347 NA NA NA NA NA 10q21.3 NA NA NA NA rs6480306 0.99 0.99 0.988 0.982428 1 1 0.9986 0.9342 1 1 1 1 0.95 0.9938 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.062168 NA NA 0.998953 0.949387 NA 0.978 NA 1.007247 1559 9 14759725 14759725 A G intronic FREM1 NA NA NA intronic ENSG00000164946 NA NA NA NA NA 9p22.3 NA NA NA NA rs7045154 0.98 0.98 0.981 0.976837 1 1 0.9942 0.9153 1 1 1 1 0.93 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 1.207111 NA NA 0.999877 0.929434 NA 0.935 NA 1.007223 1559 10 5242346 5242346 G A intronic AKR1C4 NA NA NA intronic ENSG00000196326,ENSG00000198610 NA NA NA NA NA 10p15.1 NA NA NA NA rs7099651 0.98 0.98 0.979 0.97524 0.999 1 0.9899 0.9123 1 1 1 0.99 0.93 0.9938 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.932388 NA NA 1 0.935089 NA 0.949 NA 1.0072 1559 15 56152598 56152598 A G intronic NEDD4 NA NA NA intronic ENSG00000069869 NA NA NA NA NA 15q21.3 NA NA NA NA rs4774228 0.98 0.98 0.983 0.976438 1 1 0.9942 0.9145 0.999 1 1 0.99 0.93 0.9928 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409731 NA NA 1 0.920429 NA 0.978 NA 1.0072 1559 11 55860780 55860780 G A upstream OR8I2 NA NA NA UTR5 ENSG00000172154 ENST00000302124:c.-4G>A NA NA NA NA 11q12.1 NA NA NA NA rs1842700 0.98 0.98 0.974 0.977835 1 1 0.9885 0.9221 1 1 1 0.99 0.92 0.9935 1 NA NA 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 0.999302 0.936165 NA 0.986 NA 1.007198 1559 10 468748 468748 C T intronic DIP2C NA NA NA intronic ENSG00000151240 NA NA NA NA NA 10p15.3 NA NA NA NA rs4881290 0.98 0.98 0.976 0.980631 1 1 0.9971 0.9289 0.999 1 1 1 0.92 0.9934 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.49271 NA NA 0.999535 0.926464 NA 0.971 NA 1.007065 1559 6 24302087 24302087 G A intronic DCDC2 NA NA NA intronic ENSG00000146038 NA NA NA NA NA 6p22.3 NA NA NA NA rs807703 0.99 0.99 0.985 0.983227 0.999 1 0.9971 0.9387 1 1 1 1 0.94 0.995 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.562911 1.562911 NA 0.998953 0.952111 NA 0.986 NA 1.007047 1559 18 52575002 52575002 G A intronic CCDC68 NA NA NA intronic ENSG00000166510 NA NA NA NA NA 18q21.2 NA NA NA NA rs1944382 0.98 0.98 0.979 0.976038 0.999 1 0.9928 0.9138 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 0.228496 NA NA 0.999767 0.940082 NA 0.957 NA 1.007033 1559 9 134323240 134323240 A C intronic PRRC2B NA NA NA intronic ENSG00000130723 NA NA NA NA NA 9q34.13 NA NA NA NA rs2994064 0.98 0.98 0.984 0.982827 1 1 0.9914 0.9395 1 1 1 0.99 0.94 0.9936 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.178168 NA NA 0.999401 0.935524 NA 0.971 NA 1.006999 1559 5 176939688 176939688 C T intronic DDX41 NA NA NA intronic ENSG00000183258 NA NA NA NA NA 5q35.3 NA NA NA NA rs28544348 0.98 0.98 0.98 0.979233 1 1 0.9942 0.9244 1 1 1 0.99 0.91 0.9934 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.400638 NA NA 0.999767 0.933954 NA 0.993 NA 1.006833 1559 1 200619530 200619530 T C intronic DDX59 NA NA NA intronic ENSG00000118197 NA NA NA NA NA 1q32.1 NA NA NA NA rs2809365 0.98 0.98 0.967 0.975639 1 1 0.9971 0.9092 1 1 1 0.99 0.9 0.9936 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174047 NA NA 0.999651 0.933638 NA 0.942 NA 1.006749 1559 1 6586070 6586070 C T intronic NOL9 NA NA NA intronic ENSG00000162408 NA NA NA NA NA 1p36.31 NA NA NA NA rs7548042 0.98 0.98 0.987 0.979433 1 1 0.9914 0.9266 1 1 1 0.99 0.92 0.9935 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.198312 NA NA 0.999767 0.928053 NA 0.964 NA 1.006733 1559 15 50489677 50489677 A T intronic SLC27A2 NA NA NA intronic ENSG00000140284 NA NA NA NA NA 15q21.2 NA NA NA NA rs1863511 0.99 0.99 0.982 0.971446 1 1 0.9928 0.8956 1 1 1 1 0.94 0.9934 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174713 NA NA 0.999884 0.932574 NA 0.935 NA 1.006716 1559 6 52697825 52697825 A C intronic GSTA5 NA NA NA intronic ENSG00000182793 NA NA NA NA NA 6p12.2 NA NA NA NA rs4715345 0.97 0.97 0.986 0.985224 1 1 0.9957 0.9463 1 0.99 0.98 0.96 0.92 0.9946 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.715946 NA NA 0.99872 0.948025 NA 0.993 NA 1.00668 1559 1 55330966 55330966 T C intronic DHCR24 NA NA NA intronic ENSG00000116133 NA NA NA NA NA 1p32.3 NA NA NA NA rs611057 0.99 0.99 0.985 0.988618 0.997 1 1 0.9592 1 1 1 1 0.96 0.9968 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.439899 3.439899 NA 0.999535 0.965275 NA 0.993 NA 1.006665 1559 10 395266 395266 T C intronic DIP2C NA NA NA intronic ENSG00000151240 NA NA NA NA NA 10p15.3 NA NA NA NA rs4880611 0.98 0.98 0.988 0.980631 1 1 0.9942 0.9297 1 1 1 0.99 0.93 0.9938 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.013271 NA NA 0.999535 0.931457 NA 0.986 NA 1.006665 1559 17 73698557 73698557 C T intronic SAP30BP NA NA NA intronic ENSG00000161526 NA NA NA NA NA 17q25.1 NA NA NA NA rs820232 0.98 0.98 0.972 0.979832 1 1 0.9899 0.9289 1 1 1 0.99 0.92 0.9937 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.661728 NA NA 0.999767 0.932819 NA 0.986 NA 1.006533 1559 17 46926772 46926772 A G intronic CALCOCO2 NA NA NA intronic ENSG00000136436 NA NA NA NA NA 17q21.32 NA NA NA NA rs551605 0.98 0.98 0.978 0.979233 1 1 0.9942 0.9244 1 1 1 0.99 0.93 0.9936 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.949732 NA NA 0.999884 0.931003 NA 0.971 NA 1.006516 1559 4 44696538 44696538 C G intronic GUF1 NA NA NA intronic ENSG00000151806 NA NA NA NA NA 4p12 NA NA NA NA rs12641137 0.99 0.99 0.991 0.976438 1 1 0.9957 0.913 1 1 1 1 0.95 0.994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.029831 NA NA 0.999651 0.934862 NA 0.978 NA 1.006349 1559 11 61123965 61123965 A G intronic CYB561A3 NA NA NA intronic ENSG00000162144 NA NA NA NA NA 11q12.2 NA NA NA NA rs76030461 0.99 0.99 0.995 0.987819 0.999 0.999 0.9971 0.9652 0.9888 1 1 1 0.98 0.9955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.371456 NA NA 0.999186 0.973672 NA 0.978 NA 1.006314 1559 18 55240455 55240455 T C intronic FECH NA NA NA intronic ENSG00000066926 NA NA NA NA NA 18q21.31 NA NA NA NA rs577152 0.98 0.98 0.974 0.982428 0.999 0.999 0.9928 0.9387 1 1 1 0.99 0.92 0.9951 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.601278 NA NA 0.999767 0.95892 NA 0.949 NA 1.006133 1559 5 137257288 137257288 A G intronic PKD2L2 NA NA NA intronic ENSG00000078795 NA NA NA NA NA 5q31.2 NA NA NA NA rs4304074 0.99 0.99 0.987 0.977037 1 1 0.9942 0.916 1 1 1 1 0.94 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 0.562531 NA NA 0.999755 0.933722 NA 0.978 NA 1.006045 1559 12 131285663 131285663 T C intronic STX2 NA NA NA intronic ENSG00000111450 NA NA NA NA NA 12q24.33 NA NA NA NA rs1881060 0.99 0.99 0.982 0.983427 0.999 1 0.9971 0.9395 1 1 1 1 0.94 0.9951 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.975037 NA NA 0.999884 0.945529 NA 0.986 NA 1.006016 1559 17 2598627 2598627 T C intronic CLUH NA NA NA intronic ENSG00000132361 NA NA NA NA NA 17p13.3 NA NA NA NA rs1003398 0.99 0.99 0.99 0.984625 1 1 0.9914 0.9463 1 1 1 0.99 0.96 0.9943 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.640089 NA NA 0.999757 0.935085 NA 0.993 NA 1.005943 1559 10 71010026 71010026 T C intronic HKDC1 NA NA NA intronic ENSG00000156510 NA NA NA NA NA 10q22.1 NA NA NA NA rs4745978 0.99 0.99 0.994 0.988618 0.999 0.995 0.9971 0.9705 0.9898 1 0.99 1 0.98 0.9952 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.857385 NA NA 0.999884 0.980708 NA 0.993 NA 1.005916 1559 10 6156118 6156118 T C intronic RBM17 NA NA NA intronic ENSG00000134453 NA NA NA NA NA 10p15.1 NA NA NA NA rs10795823 0.98 0.98 0.983 0.980431 1 1 0.9957 0.9289 0.999 1 1 1 0.93 0.9944 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.959691 NA NA 0.999767 0.941897 NA 0.986 NA 1.005833 1559 7 142197986 142197986 T C intergenic LOC730441,MTRNR2L6 dist=225918;dist=176145 NA NA ncRNA_exonic ENSG00000241657 NA NA NA NA NA 7q34 NA NA NA NA rs148941368 0.98 0.98 0.975 0.977835 1 1 0.9957 0.9183 1 1 1 1 0.91 0.9943 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.740978 NA NA 0.999879 0.931877 NA 0.877 NA 1.005821 1559 8 144874366 144874366 T C intronic SCRIB NA NA NA intronic ENSG00000180900 NA NA NA NA NA 8q24.3 NA NA NA NA rs7461245 0.99 0.99 0.988 0.989816 0.998 1 0.9971 0.9644 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 -1.998213 NA NA 0.999301 0.972222 NA 0.123 NA 1.005799 1559 2 27261329 27261329 A G intronic TMEM214 NA NA NA intronic ENSG00000119777 NA NA NA NA NA 2p23.3 NA NA NA NA rs11690454 0.98 0.98 0.969 0.980631 1 1 0.9957 0.9289 1 1 1 1 0.92 0.9946 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.105682 NA NA 0.999642 0.945972 NA 0.935 NA 1.005758 1559 7 101870599 101870599 A G intronic CUX1 NA NA NA intronic ENSG00000257923 NA NA NA NA NA 7q22.1 NA NA NA NA rs430841 1 1 1 0.9998 0.999 1 1 1 1 1 1 1 1 0.9988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.925366 NA NA 0.996622 0.999772 NA 1 NA 1.005578 1559 10 13275514 13275514 A G intronic UCMA NA NA NA intronic ENSG00000165623 NA NA NA NA NA 10p13 NA NA NA NA rs4750327 0.99 0.99 0.985 0.98123 1 1 0.9971 0.9304 1 1 1 1 0.97 0.9947 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.52864 NA NA 0.999767 0.963459 NA 0.986 NA 1.005533 1559 6 17809199 17809199 G A intronic KIF13A NA NA NA intronic ENSG00000137177 NA NA NA NA NA 6p22.3 NA NA NA NA rs6913612 0.98 0.98 0.984 0.981629 1 1 0.9914 0.9349 1 1 1 0.99 0.94 0.9948 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.696356 1.696356 NA 0.999755 0.947974 NA 0.971 NA 1.005445 1559 10 120917269 120917269 A T intronic SFXN4 NA NA NA intronic ENSG00000183605 NA NA NA NA NA 10q26.11 NA NA NA NA rs2420494 0.99 0.99 0.985 0.983626 1 1 0.9885 0.944 1 1 1 0.99 0.95 0.9955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.216948 NA NA 0.99907 0.955742 NA 0.978 NA 1.00543 1559 2 209035658 209035658 C T intronic C2orf80 NA NA NA intronic ENSG00000188674 NA NA NA NA NA 2q34 NA NA NA NA rs6748431 0.98 0.98 0.985 0.983427 0.999 1 0.9971 0.9395 1 1 1 1 0.93 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.179036 NA NA 1 0.948943 NA 0.993 NA 1.0054 1559 4 146046138 146046138 T C intronic ABCE1 NA NA NA intronic ENSG00000164163 NA NA NA NA NA 4q31.21 NA NA NA NA rs4835203 0.98 0.98 0.983 0.986222 0.999 0.999 0.9971 0.9508 1 1 1 0.99 0.94 0.996 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.294902 NA NA 0.999767 0.96031 NA 0.986 NA 1.005233 1559 15 63030398 63030398 T C intronic TLN2 NA NA NA intronic ENSG00000171914 NA NA NA NA NA 15q22.2 NA NA NA NA rs12900862 0.98 0.98 0.977 0.982428 1 1 0.9957 0.9357 1 1 1 1 0.93 0.995 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.757188 NA NA 0.999767 0.948252 NA 0.971 NA 1.005233 1559 12 57590735 57590735 T C intronic LRP1 NA NA NA intronic ENSG00000123384 NA NA NA NA NA 12q13.3 NA NA NA NA rs7308552 0.99 0.99 0.986 0.984625 1 1 0.9986 0.9425 1 1 1 1 0.95 0.9949 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.687083 NA NA 0.999884 0.953139 NA 0.978 NA 1.005216 1559 1 33330432 33330432 A G intronic FNDC5 NA NA NA intronic ENSG00000160097 NA NA NA NA NA 1p35.1 NA NA NA NA rs1284368 0.99 0.99 0.992 0.984026 1 1 0.9942 0.9425 1 1 1 0.99 0.97 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.080091 NA NA 0.999186 0.958693 NA 0.986 NA 1.005214 1559 12 44338153 44338153 T A intronic TMEM117 NA NA NA intronic ENSG00000139173 NA NA NA NA NA 12q12 NA NA NA NA rs6582491 0.99 0.99 0.988 0.982228 1 1 0.9957 0.9349 1 1 1 0.99 0.96 0.9951 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.461779 NA NA 0.999884 0.949387 NA 1 NA 1.005016 1560 6 47686101 47686101 T C intronic GPR115 NA NA NA intronic ENSG00000153294 NA NA NA NA NA 6p12.3 NA NA NA NA rs6914013 0.99 0.99 0.985 0.98722 1 1 0.9942 0.9546 1 1 1 0.99 0.95 0.9952 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.718831 NA NA 0.999884 0.944394 NA 0.978 NA 1.004916 1560 2 219257688 219257688 T C intronic SLC11A1 NA NA NA intronic ENSG00000018280 NA NA NA NA NA 2q35 NA NA NA NA rs2045433 0.99 0.99 0.982 0.986821 0.999 1 1 0.9508 1 1 1 1 0.94 0.9966 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.415051 NA NA 0.999535 0.97458 NA 1 NA 1.004865 1560 2 27355454 27355454 A C intronic PREB NA NA NA intronic ENSG00000138073 NA NA NA NA NA 2p23.3 NA NA NA NA rs4665948 0.99 0.99 0.977 0.984225 1 1 0.9971 0.9418 1 1 1 1 0.94 0.9954 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.614154 NA NA 0.999767 0.953019 NA 0.986 NA 1.004833 1560 1 201292110 201292110 T C intronic PKP1 NA NA NA intronic ENSG00000081277 NA NA NA NA NA 1q32.1 NA NA NA NA rs1779288 0.99 0.99 0.992 0.989417 1 1 0.9957 0.9622 1 1 1 0.99 0.98 0.9963 1 NA NA 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 0.998953 0.966409 NA 0.986 NA 1.004747 1560 18 52608329 52608329 C A intronic CCDC68 NA NA NA intronic ENSG00000166510 NA NA NA NA NA 18q21.2 NA NA NA NA rs8087479 0.99 0.99 0.989 0.985423 1 1 0.9957 0.947 1 1 1 0.99 0.96 0.9955 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.472588 NA NA 0.999767 0.951862 NA 0.949 NA 1.004733 1560 4 48577121 48577121 C T intronic FRYL NA NA NA intronic ENSG00000075539 NA NA NA NA NA 4p11 NA NA NA NA rs28558226 0.98 0.98 0.979 0.982628 1 1 0.9957 0.9365 1 1 1 0.99 0.91 0.9953 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.21939 NA NA 1 0.948941 NA 0.986 NA 1.0047 1560 9 131453331 131453331 G A intronic SET NA NA NA intronic ENSG00000119335 NA NA NA NA NA 9q34.11 NA NA NA NA rs4837293 0.99 0.99 0.984 0.988219 1 1 0.9957 0.9576 1 1 1 0.99 0.95 0.9954 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.187337 NA NA 1 0.949143 NA 0.986 NA 1.0046 1560 9 131479023 131479023 T C intronic PKN3 NA NA NA intronic ENSG00000160447 NA NA NA NA NA 9q34.11 NA NA NA NA rs10739729 0.99 0.99 0.988 0.990415 1 1 0.9971 0.9652 1 1 1 1 0.96 0.9956 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.200079 NA NA 0.999884 0.956423 NA 0.986 NA 1.004516 1560 9 131475951 131475951 T C intronic PKN3 NA NA NA intronic ENSG00000160447 NA NA NA NA NA 9q34.11 NA NA NA NA rs4837297 0.99 0.99 0.989 0.990415 1 1 0.9971 0.9652 1 1 1 1 0.96 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 -0.559944 NA NA 0.999884 0.956877 NA 0.986 NA 1.004416 1560 10 105793173 105793173 T G intronic COL17A1 NA NA NA intronic ENSG00000065618 NA NA NA NA NA 10q24.33 NA NA NA NA rs1747675 0.99 0.99 0.985 0.984425 1 1 0.9986 0.9425 0.999 1 1 1 0.94 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 -0.484885 NA NA 0.999884 0.955515 NA 0.978 NA 1.004416 1560 1 94980671 94980671 C G intronic ABCD3 NA NA NA intronic ENSG00000117528 NA NA NA NA NA 1p21.3 NA NA NA NA rs3118109 0.99 0.99 0.987 0.983626 1 1 0.9942 0.941 1 1 1 1 0.95 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 -1.008992 NA NA 1 0.954153 NA 0.993 NA 1.0043 1560 3 111658486 111658486 T G intronic PHLDB2 NA NA NA intronic ENSG00000144824 NA NA NA NA NA 3q13.2 NA NA NA NA rs712510 0.99 0.99 0.988 0.990415 0.999 1 0.9986 0.966 0.999 1 1 1 0.97 0.997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.660641 NA NA 0.999767 0.971857 NA 0.978 NA 1.004233 1560 2 170218816 170218816 T C intronic LRP2 NA NA NA intronic ENSG00000081479 NA NA NA NA NA 2q31.1 NA NA NA NA rs1559013 0.98 0.98 0.979 0.984625 1 1 0.9914 0.9463 1 0.99 1 0.97 0.94 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 1.420775 1.420775 NA 0.999377 0.966783 NA 0.957 NA 1.004223 1560 3 105453034 105453034 A G intronic CBLB NA NA NA intronic ENSG00000114423 NA NA NA NA NA 3q13.11 NA NA NA NA rs6768096 0.99 0.99 0.985 0.984625 1 1 0.9986 0.9425 1 1 1 1 0.95 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 0.360404 NA NA 0.999884 0.956423 NA 0.978 NA 1.004216 1560 3 105495432 105495432 G T intronic CBLB NA NA NA intronic ENSG00000114423 NA NA NA NA NA 3q13.11 NA NA NA NA rs9809911 0.99 0.99 0.984 0.984425 1 1 0.9986 0.9418 1 1 1 1 0.95 0.996 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.707534 NA NA 0.999884 0.957104 NA 0.978 NA 1.004116 1560 8 139712323 139712323 A G intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs4909835 0.99 0.99 0.986 0.986022 1 1 0.9914 0.9516 1 1 1 0.99 0.95 0.996 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.90687 NA NA 0.999884 0.967544 NA 0.957 NA 1.004116 1560 11 120292570 120292570 T A intronic ARHGEF12 NA NA NA intronic ENSG00000196914 NA NA NA NA NA 11q23.3 NA NA NA NA rs532006 0.99 0.99 0.984 0.985024 1 1 0.9971 0.9448 1 1 1 1 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 0.871284 NA NA 0.999512 0.957609 NA 0.978 NA 1.004088 1560 6 53365019 53365019 G C intronic GCLC NA NA NA intronic ENSG00000001084 NA NA NA NA NA 6p12.1 NA NA NA NA rs661346 1 1 0.999 0.999601 0.999 1 0.9986 1 1 1 1 1 1 0.9981 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.918414 NA NA 0.998837 1 NA 1 NA 1.004063 1560 8 139696635 139696635 T C intronic COL22A1 NA NA NA intronic ENSG00000169436 NA NA NA NA NA 8q24.23 NA NA NA NA rs4506262 0.99 0.99 0.984 0.985224 1 1 0.9885 0.9501 1 1 1 0.99 0.94 0.9961 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.39615 NA NA 0.999884 0.969587 NA 0.978 NA 1.004016 1560 10 104128954 104128954 T A intronic GBF1 NA NA NA intronic ENSG00000107862 NA NA NA NA NA 10q24.32 NA NA NA NA rs7902882 0.99 0.99 0.994 0.988219 0.999 1 0.9942 0.9592 1 1 1 0.99 0.98 0.9971 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.296945 NA NA 0.999884 0.970268 NA 0.978 NA 1.004016 1560 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 1560 3 129303197 129303197 T C intronic PLXND1 NA NA NA intronic ENSG00000004399 NA NA NA NA NA 3q22.1 NA NA NA NA rs2811463 0.99 0.99 0.991 0.984824 1 0.999 0.9971 0.9448 1 1 1 1 0.96 0.9961 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.808387 NA NA 1 0.962097 NA 0.913 NA 1.0039 1560 14 56126456 56126456 C A intronic KTN1 NA NA NA intronic ENSG00000126777 NA NA NA NA NA 14q22.3 NA NA NA NA rs7160678 0.99 0.99 0.986 0.989018 0.999 1 0.9986 0.9599 1 1 1 1 0.96 0.9974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.13432 NA NA 0.999883 0.969986 NA 0.978 NA 1.003717 1560 17 11511412 11511412 A G intronic DNAH9 NA NA NA intronic ENSG00000007174 NA NA NA NA NA 17p12 NA NA NA NA rs4792156 0.99 0.99 0.996 0.990216 0.999 1 0.9971 0.9652 1 1 1 1 0.97 0.9974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.191368 NA NA 0.999884 0.976396 NA 0.92 NA 1.003716 1560 16 8728953 8728953 C T intronic METTL22 NA NA NA intronic ENSG00000067365 NA NA NA NA NA 16p13.2 NA NA NA NA rs1731044 0.99 0.99 0.996 0.985623 1 1 0.9928 0.9493 1 1 1 0.99 0.97 0.9963 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.707698 NA NA 1 0.959567 NA 0.986 NA 1.0037 1560 17 73626829 73626829 C G intronic RECQL5 NA NA NA intronic ENSG00000108469 NA NA NA NA NA 17q25.1 NA NA NA NA rs820195 0.99 0.99 0.99 0.989018 1 1 0.9942 0.9614 1 1 1 0.99 0.96 0.9966 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.664863 NA NA 0.999757 0.968338 NA 0.986 NA 1.003643 1560 13 24869025 24869025 A G intronic SPATA13 NA NA NA intronic ENSG00000182957 NA NA NA NA NA 13q12.12 NA NA NA NA rs7993660 0.99 0.99 0.994 0.991014 0.999 1 0.9986 0.9675 1 1 1 1 0.97 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 -1.094544 NA NA 0.999884 0.97231 NA 1 NA 1.003616 1560 17 35956263 35956263 T C intronic SYNRG NA NA NA intronic ENSG00000006114 NA NA NA NA NA 17q12 NA NA NA NA rs4795207 0.99 0.99 0.991 0.991813 0.999 1 1 0.9697 1 1 1 1 0.97 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 0.490269 NA NA 0.999884 0.970268 NA 0.986 NA 1.003616 1560 16 81953081 81953081 T C intronic PLCG2 NA NA NA intronic ENSG00000197943 NA NA NA NA NA 16q23.3 NA NA NA NA rs12448130 0.99 0.99 0.986 0.988618 1 1 0.9957 0.9599 0.999 1 1 0.99 0.95 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 -0.377514 NA NA 0.999516 0.965015 NA 0.993 NA 1.003584 1560 4 73175093 73175093 C T intronic ADAMTS3 NA NA NA intronic ENSG00000156140 NA NA NA NA NA 4q13.3 NA NA NA NA rs10024487 0.99 0.99 0.991 0.988419 1 1 0.9971 0.9576 1 1 1 0.99 0.97 0.9967 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.603557 NA NA 0.999767 0.967771 NA 1 NA 1.003533 1560 4 71698183 71698183 C A intronic GRSF1 NA NA NA intronic ENSG00000132463 NA NA NA NA NA 4q13.3 NA NA NA NA rs4694081 0.99 0.99 0.987 0.986022 1 1 0.9971 0.9486 1 1 1 1 0.96 0.9966 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10169 NA NA 0.999877 0.954096 NA 0.949 NA 1.003523 1560 1 115401136 115401136 G A intronic SYCP1 NA NA NA intronic ENSG00000198765 NA NA NA NA NA 1p13.2 NA NA NA NA rs360615 0.99 0.99 0.993 0.98722 1 1 0.9899 0.9569 1 1 1 0.99 0.97 0.9966 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.259071 3.259071 NA 1 0.962071 NA 0.971 NA 1.0034 1560 6 121632008 121632008 T A intronic C6orf170 NA NA NA intronic ENSG00000146350 NA NA NA NA NA 6q22.31 NA NA NA NA rs9372653 0.99 0.99 0.994 0.989417 1 1 0.9957 0.9622 1 1 1 1 0.97 0.9966 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3.264689 3.264689 NA 1 0.964663 NA 1 NA 1.0034 1560 11 26552702 26552702 T C intronic ANO3 NA NA NA intronic ENSG00000134343 NA NA NA NA NA 11p14.2 NA NA NA NA rs293937 0.99 0.99 0.998 0.989617 1 1 0.9942 0.9637 1 1 1 1 0.98 0.9966 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.106239 NA NA 1 0.958693 NA 0.993 NA 1.0034 1560 12 58127766 58127766 T C intronic AGAP2 NA NA NA intronic ENSG00000135439 NA NA NA NA NA 12q14.1 NA NA NA NA rs238526 0.99 0.99 0.994 0.990216 1 1 0.9942 0.966 1 1 1 0.99 0.98 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 1.569392 1.569392 NA 0.999767 0.970041 NA 1 NA 1.003333 1560 4 162459299 162459299 T C intronic FSTL5 NA NA NA intronic ENSG00000168843 NA NA NA NA NA 4q32.2 NA NA NA NA rs4691769 0.99 0.99 0.985 0.984225 1 1 0.9957 0.9425 1 1 1 1 0.95 0.9967 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.392452 1.392452 NA 1 0.966636 NA 0.993 NA 1.0033 1560 12 58135659 58135659 T C intronic AGAP2 NA NA NA intronic ENSG00000135439 NA NA NA NA NA 12q14.1 NA NA NA NA rs238530 1 1 0.996 0.990415 1 1 0.9942 0.9667 1 1 1 0.99 0.98 0.997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.634486 NA NA 0.999767 0.969587 NA 1 NA 1.003233 1560 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 1560 2 32961745 32961745 T A intronic TTC27 NA NA NA intronic ENSG00000018699 NA NA NA NA NA 2p22.3 NA NA NA NA rs10200333 0.99 0.99 0.984 0.990216 1 1 0.9971 0.9644 1 1 1 1 0.96 0.9972 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.362242 NA NA 0.999651 0.97231 NA 0.978 NA 1.003149 1560 5 137485292 137485292 C T intronic BRD8 NA NA NA intronic ENSG00000112983 NA NA NA NA NA 5q31.2 NA NA NA NA rs217270 0.99 0.99 0.994 0.986821 1 1 0.9957 0.9523 1 1 1 1 0.98 0.997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.771295 NA NA 1 0.971857 NA 0.993 NA 1.003 1560 12 130935710 130935710 C G intronic RIMBP2 NA NA NA intronic ENSG00000060709 NA NA NA NA NA 12q24.33 NA NA NA NA rs2398519 1 1 1 0.995008 0.999 1 0.9986 0.9826 1 1 1 1 0.99 0.998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.96469 NA NA 1 0.979745 NA 1 NA 1.003 1560 11 62384869 62384869 T C intronic B3GAT3 NA NA NA intronic ENSG00000149541 NA NA NA NA NA 11q12.3 NA NA NA NA rs4963224 1 1 0.996 0.995407 0.999 1 0.9986 0.9841 1 1 1 1 0.99 0.9984 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.474612 NA NA 0.999643 0.984235 NA 0.986 NA 1.002957 1560 18 59157764 59157764 T C upstream CDH20 NA NA NA UTR5 ENSG00000101542 ENST00000262717:c.-23T>C,ENST00000538374:c.-23T>C NA NA NA NA 18q21.33 NA NA NA NA rs680530 0.99 0.99 0.991 0.992013 1 1 0.9971 0.9713 1 1 1 1 0.98 0.9971 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.689811 NA NA 1 0.970949 NA 0.978 NA 1.0029 1560 1 224345012 224345012 G A intronic FBXO28 NA NA NA intronic ENSG00000143756 NA NA NA NA NA 1q42.11 NA NA NA NA rs7543762 0.99 0.99 0.999 0.994609 0.999 1 0.9957 0.9826 1 1 1 1 0.97 0.9982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.780576 NA NA 1 0.984091 NA 0.993 NA 1.0028 1560 20 61595537 61595537 A G intronic SLC17A9 NA NA NA intronic ENSG00000101194 NA NA NA NA NA 20q13.33 NA NA NA NA rs2427464 0.87 0.87 0.994 0.988818 1 1 0.9957 0.9599 1 0.87 0.91 0.93 0.79 0.9974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.261267 NA NA 0.99988 0.971918 NA 1 NA 1.00272 1560 10 98321928 98321928 A T intronic TM9SF3 NA NA NA intronic ENSG00000077147 NA NA NA NA NA 10q24.1 NA NA NA NA rs7094142 0.99 0.99 0.986 0.991613 1 1 0.9971 0.9697 1 1 1 1 0.97 0.9974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.171199 NA NA 0.999883 0.972475 NA 0.993 NA 1.002717 1560 3 126751689 126751689 G A intronic PLXNA1 NA NA NA intronic ENSG00000114554 NA NA NA NA NA 3q21.3 NA NA NA NA rs6439031 0.99 0.99 0.993 0.989417 1 1 0.9971 0.9614 1 1 1 1 0.95 0.9973 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.658755 NA NA 1 0.970268 NA 1 NA 1.0027 1560 18 59158065 59158065 T G intronic CDH20 NA NA NA intronic ENSG00000101542 NA NA NA NA NA 18q21.33 NA NA NA NA rs681902 0.99 0.99 0.991 0.992013 1 1 0.9971 0.9713 1 1 1 1 0.98 0.9973 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.680751 NA NA 1 0.971176 NA 0.978 NA 1.0027 1560 8 21958333 21958333 T C intronic FAM160B2 NA NA NA intronic ENSG00000158863 NA NA NA NA NA 8p21.3 NA NA NA NA rs1552283 0.99 0.99 0.99 0.990615 1 1 0.9986 0.9652 1 1 1 1 0.97 0.9974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.465312 NA NA 1 0.977594 NA 0.978 NA 1.0026 1560 11 34107785 34107785 G A intronic CAPRIN1 NA NA NA intronic ENSG00000135387 NA NA NA NA NA 11p13 NA NA NA NA rs4755360 1 1 0.996 0.991414 1 1 1 0.9675 1 1 1 1 0.99 0.9974 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.980457 NA NA 1 0.97525 NA 1 NA 1.0026 1560 17 3493533 3493533 A G intronic TRPV1 NA NA NA intronic ENSG00000196689,ENSG00000262304 NA NA NA NA NA 17p13.2 NA NA NA NA rs161387 1 1 0.997 0.996605 0.999 1 1 0.9879 1 1 1 1 0.99 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -2.181586 NA NA 0.999763 0.990366 NA 1 NA 1.002537 1560 4 186339584 186339584 A G intronic UFSP2 NA NA NA intronic ENSG00000109775 NA NA NA NA NA 4q35.1 NA NA NA NA rs10003160 0.99 0.99 0.995 0.991414 1 1 0.9971 0.969 1 1 1 1 0.98 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 0.97567 NA NA 0.999884 0.975011 NA 0.986 NA 1.002516 1560 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 1560 1 160789196 160789196 A C intronic LY9 NA NA NA intronic ENSG00000122224 NA NA NA NA NA 1q23.3 NA NA NA NA rs537540 0.99 0.99 0.99 0.992412 1 1 1 0.9713 1 1 1 1 0.97 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 -0.630052 NA NA 1 0.972764 NA 0.993 NA 1.0025 1560 17 4436005 4436005 T C intronic SPNS2 NA NA NA intronic ENSG00000183018 NA NA NA NA NA 17p13.2 NA NA NA NA rs9892232 0.99 0.99 0.984 0.988618 1 1 1 0.9569 1 1 1 1 0.94 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 -0.334692 NA NA 1 0.978954 NA 0.978 NA 1.0025 1560 15 45391566 45391566 A T intronic DUOX2 NA NA NA intronic ENSG00000140279 NA NA NA NA NA 15q21.1 NA NA NA NA rs269869 0.99 0.99 0.992 0.991414 1 1 0.9986 0.9682 1 1 1 1 0.98 0.9977 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.302895 1.302895 NA 1 0.975205 NA 1 NA 1.0023 1560 10 111625108 111625108 T C intronic XPNPEP1 NA NA NA intronic ENSG00000108039 NA NA NA NA NA 10q25.1 NA NA NA NA rs483072 1 1 0.996 0.994209 1 1 0.9986 0.9788 1 1 1 1 0.98 0.9982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.174819 NA NA 0.999535 0.981616 NA 0.986 NA 1.002265 1560 13 61988107 61988107 T G intronic PCDH20 NA NA NA intronic ENSG00000197991 NA NA NA NA NA 13q21.2 NA NA NA NA rs4281600 0.99 0.99 0.992 0.992013 1 1 0.9971 0.9713 1 0.99 1 0.99 0.97 0.998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.05607 NA NA 0.999765 0.983738 NA 0.986 NA 1.002235 1560 4 126355609 126355609 T G intronic FAT4 NA NA NA intronic ENSG00000196159 NA NA NA NA NA 4q28.1 NA NA NA NA rs7656135 1 1 0.997 0.990815 1 1 1 0.9652 1 1 1 1 0.98 0.9978 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.316207 NA NA 1 0.977531 NA 0.971 NA 1.0022 1560 11 113618968 113618968 G C intronic ZW10 NA NA NA intronic ENSG00000086827 NA NA NA NA NA 11q23.2 NA NA NA NA rs2513584 0.99 0.99 0.997 0.994609 1 1 0.9957 0.9818 1 1 1 1 0.98 0.9978 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.51151 NA NA 1 0.975239 NA 0.978 NA 1.0022 1560 8 13258936 13258936 T A intronic DLC1 NA NA NA intronic ENSG00000164741 NA NA NA NA NA 8p22 NA NA NA NA rs289583 1 1 0.998 0.995208 1 1 0.9971 0.9834 1 1 1 1 0.99 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 0.048228 NA NA 1 0.982297 NA 0.993 NA 1.0021 1560 10 27456003 27456003 G A intronic MASTL NA NA NA intronic ENSG00000120539 NA NA NA NA NA 10p12.1 NA NA NA NA rs788238 0.99 0.99 0.991 0.991014 1 1 0.9942 0.969 1 1 1 1 0.97 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 1.349812 1.349812 NA 1 0.9798 NA 0.978 NA 1.0021 1560 10 27508837 27508837 T C intronic ACBD5 NA NA NA intronic ENSG00000107897 NA NA NA NA NA 10p12.1 NA NA NA NA rs788213 0.99 0.99 0.99 0.991014 1 1 0.9942 0.969 1 1 1 1 0.97 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 -0.302691 NA NA 1 0.979564 NA 0.942 NA 1.0021 1560 15 75653378 75653378 T C intronic MAN2C1 NA NA NA intronic ENSG00000140400 NA NA NA NA NA 15q24.2 NA NA NA NA rs7174408 0.99 0.99 0.996 0.995008 1 1 0.9971 0.9826 1 1 1 1 0.98 0.9983 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.511397 NA NA 0.999651 0.982468 NA 0.993 NA 1.002049 1560 1 201840464 201840464 T C intronic IPO9 NA NA NA intronic ENSG00000198700 NA NA NA NA NA 1q32.1 NA NA NA NA rs2644124 1 1 0.996 0.992412 1 1 0.9986 0.972 1 1 1 1 0.99 0.998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.505668 NA NA 1 0.980481 NA 0.993 NA 1.002 1560 15 50888619 50888619 A T intronic TRPM7 NA NA NA intronic ENSG00000092439 NA NA NA NA NA 15q21.2 NA NA NA NA rs675011 0.99 0.99 0.994 0.99381 1 1 0.9986 0.9773 1 1 1 1 0.98 0.998 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.734482 NA NA 1 0.97716 NA 0.986 NA 1.002 1560 11 60268679 60268679 G C intronic MS4A12 NA NA NA intronic ENSG00000071203 NA NA NA NA NA 11q12.2 NA NA NA NA rs2186918 1 1 0.997 0.995607 1 1 1 0.9834 1 1 1 1 0.99 0.9983 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.187483 NA NA 0.999767 0.981843 NA 0.986 NA 1.001933 1560 2 118704478 118704478 T G intronic CCDC93 NA NA NA intronic ENSG00000125633 NA NA NA NA NA 2q14.1 NA NA NA NA rs7580124 1 1 0.997 0.991813 1 1 0.9957 0.9713 1 1 1 1 0.99 0.9981 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.357748 NA NA 1 0.983432 NA 0.971 NA 1.0019 1560 11 9167399 9167399 T C intronic DENND5A NA NA NA intronic ENSG00000184014 NA NA NA NA NA 11p15.4 NA NA NA NA rs10732517 0.99 0.99 0.996 0.992612 1 1 0.9971 0.9735 1 1 1 1 0.98 0.9983 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.75451 NA NA 0.999884 0.980691 NA 0.993 NA 1.001816 1560 8 18413875 18413875 A G intronic PSD3 NA NA NA intronic ENSG00000156011 NA NA NA NA NA 8p22 NA NA NA NA rs2260920 0.99 0.99 0.99 0.991813 1 1 0.9986 0.9697 1 1 1 1 0.97 0.9982 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.676739 NA NA 1 0.978892 NA 0.993 NA 1.0018 1560 11 60776334 60776334 A G intronic CD6 NA NA NA intronic ENSG00000013725 NA NA NA NA NA 11q12.2 NA NA NA NA rs2905518 1 1 0.999 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 0.094634 NA NA 0.999767 0.985133 NA 0.797 NA 1.001733 1560 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 1560 12 27813903 27813903 C T intronic PPFIBP1 NA NA NA intronic ENSG00000110841 NA NA NA NA NA 12p11.22 NA NA NA NA rs7133222 1 1 0.994 0.995807 1 1 1 0.9841 1 1 1 1 0.98 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 -1.230309 NA NA 0.999884 0.980935 NA 1 NA 1.001616 1560 4 114267023 114267023 G A intronic ANK2 NA NA NA intronic ENSG00000145362 NA NA NA NA NA 4q26 NA NA NA NA rs9968405 1 1 1 0.9998 0.999 1 1 1 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 -0.258948 NA NA 0.999651 1 NA 1 NA 1.001549 1560 6 52702324 52702324 T C intronic GSTA5 NA NA NA intronic ENSG00000182793 NA NA NA NA NA 6p12.2 NA NA NA NA rs4715350 1 1 0.998 0.995407 1 1 0.9986 0.9834 1 1 1 1 0.99 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.442644 NA NA 0.999767 0.989333 NA 1 NA 1.001533 1560 2 180835589 180835589 A G intronic CWC22 NA NA NA intronic ENSG00000163510 NA NA NA NA NA 2q31.3 NA NA NA NA rs4894140 1 1 0.998 0.995807 1 1 1 0.9841 1 1 1 1 0.99 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.114716 NA NA 0.999877 0.986173 NA 1 NA 1.001523 1560 4 184170025 184170025 G A intronic WWC2 NA NA NA intronic ENSG00000151718 NA NA NA NA NA 4q35.1 NA NA NA NA rs907357 1 1 0.999 0.999601 0.999 1 1 0.9992 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 -1.097469 NA NA 0.999767 0.999319 NA 1 NA 1.001433 1560 11 64669417 64669417 T C intronic ATG2A NA NA NA intronic ENSG00000110046 NA NA NA NA NA 11q13.1 NA NA NA NA rs682673 1 1 0.995 0.994409 1 1 0.9986 0.9796 1 1 1 1 0.99 0.9988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.291579 NA NA 0.999767 0.987733 NA 1 NA 1.001433 1560 1 162743418 162743418 G T intronic DDR2 NA NA NA intronic ENSG00000162733 NA NA NA NA NA 1q23.3 NA NA NA NA rs1355287 1 1 0.996 0.992412 1 1 0.9986 0.972 1 1 1 1 0.98 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.182986 NA NA 1 0.984567 NA 1 NA 1.0014 1560 7 16913394 16913394 A G intronic AGR3 NA NA NA intronic ENSG00000173467 NA NA NA NA NA 7p21.1 NA NA NA NA rs10249749 1 1 0.996 0.996006 1 1 0.9986 0.9856 1 1 1 1 0.98 0.9986 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.641123 NA NA 1 0.983205 NA 0.986 NA 1.0014 1560 6 348080 348080 A G intronic DUSP22 NA NA NA intronic ENSG00000112679 NA NA NA NA NA 6p25.3 NA NA NA NA rs2797333 1 1 0.996 0.997005 1 1 0.9986 0.9894 1 1 1 1 0.99 0.9988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.409912 NA NA 0.999884 0.991602 NA 1 NA 1.001316 1560 3 44869026 44869026 A T intronic KIF15 NA NA NA intronic ENSG00000163808 NA NA NA NA NA 3p21.31 NA NA NA NA rs4682999 1 1 0.997 0.997604 1 1 0.9971 0.9924 1 1 1 1 0.99 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.23327 1.23327 NA 1 0.985247 NA 0.993 NA 1.0013 1560 9 131898880 131898880 A G intronic PPP2R4 NA NA NA intronic ENSG00000119383 NA NA NA NA NA 9q34.11 NA NA NA NA rs1536548 1 1 0.997 0.996406 1 1 0.9971 0.9879 1 1 1 1 0.99 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.75363 NA NA 1 0.988198 NA 1 NA 1.0013 1560 10 35324076 35324076 A G intronic CUL2 NA NA NA intronic ENSG00000108094 NA NA NA NA NA 10p11.21 NA NA NA NA rs2244174 0.99 0.99 0.996 0.995607 1 1 1 0.9834 1 0.99 0.99 1 0.96 0.9987 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.864146 NA NA 1 0.990921 NA 0.993 NA 1.0013 1560 3 134266148 134266148 G C intronic CEP63 NA NA NA intronic ENSG00000182923 NA NA NA NA NA 3q22.2 NA NA NA NA rs12632372 1 1 0.996 0.995607 1 1 0.9986 0.9841 1 1 1 1 0.99 0.9988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.593446 1.593446 NA 1 0.986836 NA 1 NA 1.0012 1560 11 8117228 8117228 A G intronic TUB NA NA NA intronic ENSG00000166402 NA NA NA NA NA 11p15.4 NA NA NA NA rs11041739 0.99 0.99 0.993 0.994609 1 1 0.9986 0.9803 1 1 1 1 0.98 0.9988 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.916888 2.916888 NA 1 0.991969 NA 0.971 NA 1.0012 1560 2 112605465 112605465 T C intronic ANAPC1 NA NA NA intronic ENSG00000153107 NA NA NA NA NA 2q13 NA NA NA NA rs4848800 1 1 0.993 0.995407 1 1 0.9971 0.9841 1 1 1 1 0.98 0.9989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.23786 NA NA 1 0.988864 NA 0.862 NA 1.0011 1560 12 123471402 123471402 T C intronic PITPNM2 NA NA NA intronic ENSG00000090975 NA NA NA NA NA 12q24.31 NA NA NA NA rs2049506 1 1 0.997 0.996206 1 1 1 0.9856 1 1 1 1 0.98 0.9989 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.67988 NA NA 1 0.990468 NA 1 NA 1.0011 1560 14 61497147 61497147 A T intronic SLC38A6 NA NA NA intronic ENSG00000139974 NA NA NA NA NA 14q23.1 NA NA NA NA rs1465146 1 1 0.997 0.997204 1 1 0.9986 0.9902 1 1 1 1 0.99 0.9991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.233275 NA NA 0.999884 0.991595 NA 0.986 NA 1.001016 1560 1 110467745 110467745 A G intronic CSF1 NA NA NA intronic ENSG00000184371 NA NA NA NA NA 1p13.3 NA NA NA NA rs333972 1 1 0.998 0.996805 1 1 0.9986 0.9887 1 1 1 1 0.99 0.9991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.584138 NA NA 1 0.990695 NA 0.993 NA 1.0009 1560 12 7945829 7945829 G C intronic NANOG NA NA NA intronic ENSG00000111704 NA NA NA NA NA 12p13.31 NA NA NA NA rs4242903 0.99 0.99 0.997 0.994808 1 1 0.9971 0.9818 1 1 1 1 0.98 0.9991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.132078 NA NA 1 0.991883 NA 0.993 NA 1.0009 1560 13 31531195 31531195 T C intronic TEX26 NA NA NA intronic ENSG00000175664 NA NA NA NA NA 13q12.3 NA NA NA NA rs6560988 1 1 0.994 0.996006 1 1 1 0.9849 1 1 1 1 0.98 0.9991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.163937 NA NA 1 0.990468 NA 0.993 NA 1.0009 1560 13 36747798 36747798 C G intronic CCDC169-SOHLH2,SOHLH2 NA NA NA intronic ENSG00000120669,ENSG00000250709 NA NA NA NA NA 13q13.3 NA NA NA NA rs1410633 1 1 0.998 0.996605 1 1 1 0.9871 1 1 1 1 0.99 0.9991 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.272972 NA NA 1 0.991829 NA 1 NA 1.0009 1560 3 36896653 36896653 G C intronic TRANK1 NA NA NA intronic ENSG00000168016 NA NA NA NA NA 3p22.2 NA NA NA NA rs9818599 1 1 0.997 0.996406 1 1 0.9957 0.9887 1 1 1 0.99 0.99 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.98737 NA NA 0.99988 0.994084 NA 1 NA 1.00082 1560 6 335175 335175 A T intronic DUSP22 NA NA NA intronic ENSG00000112679 NA NA NA NA NA 6p25.3 NA NA NA NA rs2671431 1 1 1 0.997804 1 1 1 0.9917 1 1 1 1 0.99 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.758517 1.758517 NA 0.999884 0.994326 NA 1 NA 1.000816 1560 11 64563934 64563934 A G intronic MAP4K2 NA NA NA intronic ENSG00000168067 NA NA NA NA NA 11q13.1 NA NA NA NA rs483544 1 1 1 0.997604 1 1 1 0.9909 1 1 1 1 0.99 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.740193 NA NA 0.999884 0.995457 NA 1 NA 1.000816 1560 1 43652369 43652369 T C intronic WDR65 NA NA NA intronic ENSG00000243710 NA NA NA NA NA 1p34.2 NA NA NA NA rs6413971 1 1 0.992 0.996805 1 1 1 0.9879 1 1 1 1 0.98 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 2.748474 2.748474 NA 1 0.990014 NA 0.986 NA 1.0008 1560 1 222798106 222798106 G A intronic MIA3 NA NA NA intronic ENSG00000154305 NA NA NA NA NA 1q41 NA NA NA NA rs3008617 1 1 0.998 0.998403 1 1 1 0.9939 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 -0.95917 NA NA 1 0.987514 NA 0.993 NA 1.0008 1560 7 99772298 99772298 A C intronic GPC2 NA NA NA intronic ENSG00000213420 NA NA NA NA NA 7q22.1 NA NA NA NA rs10252037 1 1 0.993 0.997005 1 1 1 0.9887 1 1 1 1 0.98 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 0.740705 NA NA 1 0.992056 NA 0.986 NA 1.0008 1560 16 84486867 84486867 A G intronic ATP2C2 NA NA NA intronic ENSG00000064270 NA NA NA NA NA 16q24.1 NA NA NA NA rs2435172 1 1 1 0.998003 1 1 0.9986 0.9932 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 -0.073309 NA NA 1 0.992501 NA 0.978 NA 1.0008 1560 4 185681475 185681475 G C intronic ACSL1 NA NA NA intronic ENSG00000151726 NA NA NA NA NA 4q35.1 NA NA NA NA rs6825554 1 1 1 0.997404 1 1 0.9971 0.9917 1 1 1 1 1 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.100888 NA NA 1 0.995007 NA 1 NA 1.0007 1560 11 8118200 8118200 C A intronic TUB NA NA NA intronic ENSG00000166402 NA NA NA NA NA 11p15.4 NA NA NA NA rs7931842 1 1 0.996 0.996006 1 1 0.9986 0.9856 1 1 1 1 0.98 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.029341 NA NA 1 0.993866 NA 0.993 NA 1.0007 1560 11 121475798 121475798 T A intronic SORL1 NA NA NA intronic ENSG00000137642 NA NA NA NA NA 11q24.1 NA NA NA NA rs1784929 1 1 1 0.998602 1 1 1 0.9947 1 1 1 1 1 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.583054 NA NA 1 0.991602 NA 0.993 NA 1.0007 1560 17 10205067 10205067 C T intronic MYH13 NA NA NA intronic ENSG00000006788 NA NA NA NA NA 17p13.1 NA NA NA NA rs2008528 1 1 0.999 0.997005 1 1 1 0.9887 1 1 1 1 0.98 0.9993 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.103061 NA NA 1 0.990566 NA 0.993 NA 1.0007 1560 2 242142737 242142737 T C intronic ANO7 NA NA NA intronic ENSG00000146205 NA NA NA NA NA 2q37.3 NA NA NA NA rs1179530 1 1 1 1 1 1 1 1 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 0.196228 NA NA 0.999533 1 NA 0.993 NA 1.000667 1560 2 153481943 153481943 T C intronic FMNL2 NA NA NA intronic ENSG00000157827 NA NA NA NA NA 2q23.3 NA NA NA NA rs2346532 1 1 0.999 0.998203 1 1 1 0.9932 1 1 1 1 1 0.9994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.089488 NA NA 1 0.995765 NA 0.993 NA 1.0006 1560 4 74313169 74313169 T C intronic AFP NA NA NA intronic ENSG00000081051 NA NA NA NA NA 4q13.3 NA NA NA NA rs7667494 1 1 0.999 0.997204 1 1 1 0.9894 1 1 1 1 0.99 0.9994 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.933434 NA NA 1 0.992507 NA 0.986 NA 1.0006 1560 1 38464639 38464639 C G intronic FHL3 NA NA NA intronic ENSG00000183386 NA NA NA NA NA 1p34.3 NA NA NA NA rs4570384 1 1 0.998 0.998003 1 1 1 0.9924 1 1 1 1 0.99 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 0.658249 NA NA 1 0.99478 NA 0.993 NA 1.0005 1560 12 22047151 22047151 G T intronic ABCC9 NA NA NA intronic ENSG00000069431 NA NA NA NA NA 12p12.1 NA NA NA NA rs704216 1 1 0.998 0.997804 1 1 0.9986 0.9924 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 -0.089028 NA NA 1 0.994326 NA 1 NA 1.0005 1560 13 99093094 99093094 T C intronic FARP1 NA NA NA intronic ENSG00000152767 NA NA NA NA NA 13q32.2 NA NA NA NA rs2146998 1 1 1 0.997804 1 1 1 0.9917 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 -1.258444 NA NA 1 0.995452 NA 1 NA 1.0005 1560 13 78191824 78191824 G T intronic SCEL NA NA NA intronic ENSG00000136155 NA NA NA NA NA 13q22.3 NA NA NA NA rs4142585 1 1 1 0.998802 1 1 0.9986 0.9962 1 1 1 1 1 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.329009 NA NA 0.999883 0.996798 NA 1 NA 1.000417 1560 2 215851246 215851246 A G intronic ABCA12 NA NA NA intronic ENSG00000144452 NA NA NA NA NA 2q35 NA NA NA NA rs7559069 1 1 0.999 0.999002 1 1 1 0.9962 1 1 1 1 1 0.9997 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.242014 NA NA 0.999884 0.996823 NA 1 NA 1.000416 1560 1 158607788 158607788 T G intronic SPTA1 NA NA NA intronic ENSG00000163554 NA NA NA NA NA 1q23.1 NA NA NA NA rs2518492 1 1 1 0.9998 1 1 1 0.9992 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 -0.064495 NA NA 0.999878 0.997601 NA 0.993 NA 1.000322 1560 1 22925292 22925292 C G intronic EPHA8 NA NA NA intronic ENSG00000070886 NA NA NA NA NA 1p36.12 NA NA NA NA rs664340 1 1 1 1 1 1 1 1 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 -0.546917 NA NA 0.999884 1 NA 1 NA 1.000316 1560 1 91841301 91841301 T C intronic HFM1 NA NA NA intronic ENSG00000162669 NA NA NA NA NA 1p22.2 NA NA NA NA rs282036 1 1 0.996 0.999201 1 1 1 0.997 1 1 1 1 0.99 0.9997 1 NA NA 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 1 0.99696 NA 1 NA 1.0003 1560 1 158587784 158587784 T G intronic SPTA1 NA NA NA intronic ENSG00000163554 NA NA NA NA NA 1q23.1 NA NA NA NA rs857717 1 1 0.999 0.9998 1 1 1 0.9992 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 0.251073 NA NA 0.999877 0.998063 NA 1 NA 1.000223 1560 2 24255862 24255862 C G intronic C2orf44 NA NA NA intronic ENSG00000163026,ENSG00000205639 NA NA NA NA NA 2p23.3 NA NA NA NA rs10179142 1 1 0.999 0.9998 1 1 1 0.9992 1 1 1 1 0.99 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 0.394713 NA NA 1 0.997276 NA 1 NA 1.0002 1560 10 124271589 124271589 G A intronic HTRA1 NA NA NA intronic ENSG00000166033 NA NA NA NA NA 10q26.13 NA NA NA NA rs2672586 1 1 0.999 0.999401 1 1 1 0.9977 1 1 1 1 0.99 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 1.389717 1.389717 NA 1 0.998184 NA 0.993 NA 1.0002 1560 16 50388657 50388657 G A intronic BRD7 NA NA NA intronic ENSG00000166164 NA NA NA NA NA 16q12.1 NA NA NA NA rs4407056 1 1 1 0.999201 1 1 1 0.997 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 -0.890154 NA NA 1 0.997724 NA 0.993 NA 1.0002 1560 11 47776047 47776047 G A intronic FNBP4 NA NA NA intronic ENSG00000109920 NA NA NA NA NA 11p11.2 NA NA NA NA rs7928954 1 1 1 1 1 1 1 1 1 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 0.173412 NA NA 0.999881 0.99927 NA 1 NA 1.000119 1560 1 909768 909768 A G intronic PLEKHN1 NA NA NA intronic ENSG00000187583 NA NA NA NA NA 1p36.33 NA NA NA NA rs2340593 1 1 0.999 0.999601 1 1 1 0.9985 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 0.465101 NA NA 1 0.999546 NA 0.935 NA 1.0001 1560 1 66036501 66036501 G T intronic LEPR NA NA NA intronic ENSG00000116678 NA NA NA NA NA 1p31.3 NA NA NA NA rs2186248 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 0.280678 NA NA 1 0.998407 NA 0.935 NA 1.0001 1560 1 223156382 223156382 C T intronic DISP1 NA NA NA intronic ENSG00000154309 NA NA NA NA NA 1q41 NA NA NA NA rs2926159 1 1 0.998 0.9998 1 1 1 0.9992 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 1.287472 1.287472 NA 1 0.999546 NA 1 NA 1.0001 1560 2 216190691 216190691 A C intronic ATIC NA NA NA intronic ENSG00000138363 NA NA NA NA NA 2q35 NA NA NA NA rs2177737 1 1 0.999 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 -1.381107 NA NA 1 0.999546 NA 1 NA 1.0001 1560 12 122658383 122658383 A G intronic IL31,LRRC43 NA NA NA intronic ENSG00000158113,ENSG00000204671 NA NA NA NA NA 12q24.31 NA NA NA NA rs6489173 1 1 0.999 0.9998 1 1 1 0.9992 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 0.095328 NA NA 1 0.998411 NA 1 NA 1.0001 1560 17 79872129 79872129 A G intronic SIRT7 NA NA NA intronic ENSG00000187531 NA NA NA NA NA 17q25.3 NA NA NA NA rs1879568 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 -1.012229 NA NA 1 0.998865 NA 1 NA 1.0001 1560 1 15813751 15813751 C T intronic CELA2B NA NA NA intronic ENSG00000215704 NA NA NA NA NA 1p36.21 NA NA NA NA rs2011159 1 1 1 1 1 1 1 1 1 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 -0.614132 NA NA 1 0.999773 NA 0.986 NA 1 1560 1 205495976 205495976 A G intronic CDK18 NA NA NA intronic ENSG00000117266 NA NA NA NA NA 1q32.1 NA NA NA NA rs1544154 1 1 1 1 1 1 1 1 1 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 -1.259774 NA NA 1 0.999546 NA 1 NA 1 1560 4 184932609 184932609 G A intronic STOX2 NA NA NA intronic ENSG00000173320 NA NA NA NA NA 4q35.1 NA NA NA NA rs4862282 1 1 1 1 1 1 1 1 1 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 0.381764 NA NA 1 0.999762 NA 1 NA 1 1561 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 1562 11 59189405 59189405 T C downstream OR5A2 NA NA NA downstream ENSG00000172324 NA NA NA NA NA 11q12.1 NA NA NA NA rs9988824 0.9 0.9 0.891 0.891573 0.9901 0.9405 0.8501 0.7398 0.9744 0.99 0.93 0.87 0.75 0.9448 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 0.570864 NA NA 0.988242 0.7775 NA 0.768 NA 0.7435246 1563 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 1564 20 54823779 54823779 G T upstream MC3R NA NA NA upstream ENSG00000124089 NA NA NA NA NA 20q13.2 NA NA NA NA rs13044293 1 1 0.994 0.993411 1 1 1 0.975 1 1 1 1 0.98 0.9977 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.12934 NA NA 0.999884 0.979564 NA 1 NA 0.6690826 1565 21 10863087 10863087 T G intergenic TEKT4P2,TPTE dist=894494;dist=43656 NA NA downstream ENSG00000169861 NA NA NA NA NA 21p11.2 NA NA NA NA rs28521368 NA NA 0.887 0.875599 0.9791 0.8254 0.8818 0.8434 0.8599 NA NA NA NA 0.9256 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 -0.234935 NA NA 0.978893 0.890318 NA 0.92 NA 0.616407 1566 7 142379096 142379096 T C intergenic MTRNR2L6,PRSS1 dist=3571;dist=78223 NA NA downstream ENSG00000211751 NA NA NA NA NA 7q34 NA NA NA NA rs115675145 0.99 0.99 0.986 0.979633 1 1 0.9957 0.9251 1 1 1 0.99 0.95 0.9946 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.153174 NA NA 0.999759 0.945269 NA 1 NA 0.505641